question stringlengths 84 268 | answer stringlengths 6 879 | reference_sequence stringlengths 4.1k 4.1k | mutated_sequence stringlengths 4.1k 4.1k | cleaned_pathogenicity stringclasses 2 values | __index_level_0__ int64 67 343k |
|---|---|---|---|---|---|
Variant in gene MEN1 (menin 1), located at chromosome 11 position 64804753: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Multiple_endocrine_neoplasia,_type_1'] | AGTGCCCCCATCTGCAAAATGGGCACAGAGTGCCTCCCTCCGGGCCAGGCAGGTGCAGGTGACAGCACCTCCCGGGGCACGCCTCTCAGGGGTCTCGGAAACGTCAACCCTCCGCCCGCACCCCGCGCCCGCGGGCGCTCTGCCCTTCCTCTGGCGCAGAGGCCCGACCCGGGCCCTCACCTGGGTCTAGCTTGACTATCTTCACGGCGGCCAGTTCGGACGTGACCGTGTCGCGGGCCTGCAGGGGCGGAGGGTGAAGCGGGATGGGGGGCGGGGCCGGGGGCTAGATCCTGCCGCGGGGTGCGGGGCTGGCACCCTCCTCCCGGCTCTCCCGCCCGTCCCGTCGCACCTTGTAGACGTCGCCATAGGTCCCGGCCCCCACGCGCTGCAGCAGCTCGAAGCGGTCCCGCGGGTCCTGCAGCGACACATCCCGCAGCAGCGCCATGGCCCGGCGCCGGGCGGGCCGGCAGGCGGGCGGGCGCGAGCTGCGGAGCCGGCGCGGGGCGGCGCGGGGCGGGGCGGGCGCCCGTGGCTCTGAGGCCGCGGGGGCGGGGCTGAGGCCCGGGGGCGGGGCCGCGCCGGGGATGCCCCACCGCCAGTCCGGGAGGAGGCGCCCGCGGGACGGGCCCTCGGCGGCGCGGGGAAGCCCCAAGGCCGGGGCGGAGCCTACGTCCTTCCGCCGCCACTGTCGCTCGCGCTCCACAGGTAGGGAGCGCAAAGTCCCGGGAGCCAGAAGACAGAGGGAAGAGGGGGCGCTCCACTCCCCGCCCCATCCCCAATTTCCCAGATAAACATGGACTTGCGCTTTATATTTTTTTTAACAAAATGTATTCATCTTTCTTGGAACTGAAAAATAAATCTATGTACAAAACAGGAAGAGATCAGGCTCTTGTCACCCACTCCTAACCCTCTGCAGATTTCCTCCGGGATGCTCCGAGATGGGCTGGACCTCTGGGAGGTTCCCAGAGGGTCGGAAGGGAGGTCCTGCTCTGATCCGGGGCCAGTTTCGTCAGGAAGAGGGCGGGGCTCAGGATGCTCATAGGCTGGGGGCGGAGTTTTGTGTCCCAGACTCGGGATACGAAGGAGAGGAAACTAGGATTTCCAAATTCTGGAGCAGGACTGAAGTTATTTGGGGCAGGGAGCTTGGATTCGCAAGATATGGAATTCTGAAGTGCGGAAATATACTCCTAGGGGCTGAGTGGTCCTAGGCTCCCGGGCTGGAGGTGGGACCTGTGCTCCTTGGGTTAAGGGTGAAACCTCAGCTCCTACAAGCTGGGAGGAGCCCTGAGTAACGTTGGTCTGGCTCTAGGTGAGCGGTTCCGAGGAGGAGCTTGGGTTTCTAGGGGCTGGGCCTTTAAAGACTGGTAATTAGGACCCAGCGTGAGGTTTCCATTGGCCGGCTGGGATTCTGGGAGAAGAGACCTATATTCTAACGACTGGGGCAGAGCCCTGGGTTCTGAGCTGGAGAAAATCGTGGGTTTGATACAGACTGTACTCGGGACCGGGAACCTAGGGTTTGGGTAGAGGTGAGGCCTGTCCCCTTTGGGCTGGGGGCAGAACATGGGCTCAGAGTTGGGGGACTAAGGGCGGAGCCTGGGTCCCCACAAGCGGTCCGAAGTCCCCAGTAGTTCAGAGGCCTTTGCGCTGCCGCTTGAGGAAAGACAGAGTGTAGTCACTAGGGGTGGACACTTTCTGCTTCTTCATCTGCACTTGCGACTGTGCCGTGAGTTGCAGCTTGATGGCGCTCGAGTTGATCTTGGTGGCCACCAGCAGCTCCTTCATGCCCTTCATCTTCTCACTCTGGAAAGTGAGCACTGGACCCTCCGGCGGTGGTGATGCTGTGGGTGCTGGCACCTGAGCCGTGCTGCCACCTTCAGGGCCTCGGGCTGTGCCAGCGACAGTCCCAGGAGGCTTCCGGGGGGGTCCTGACACTGCACCCTGGCCGGTGCCCAGGCCCTTGTCCAGTGCTGGCTTCTTGGGCGGCGGGGGCTCCTCTGGCTTGGACTCCCGCCGTGGGCCCCGCCGCCGGCCTTCCCGGGCTTCCTCGCCCCACGGCTCCTCGGCCTCGGCCGCCTCGGCCTCTCGGCTCACTATGCGCACCTTCTGCCGCACCTGGGCCAGTGGGGAGAGCAAGGTGAGAGCAAGGTTGCCGGCCAGTGGCTGGAACTCCAGGACCCTGCTCTGGCCATCCCATCCCACCCAGGGGGTCTCAGTCCCATCGGCACCCAAGGGGATGGGCAGATGCTGCCCCTGGGCCAGAAAAGTCTGACAAGCCCGTGGCTGCTGTCACCACCTGTAGTGCCCAGACCTCTGTGCAGCTGTCCCTCACCTGTCCCTCAAAACGGCCTAGGGACTGCACAAGAAAGGTGGCCCAGCCCACATGCAGCACAGGCGTGGGACTGCCCTCCTCCCATTTGCAGATGCCGTCGTAGAATCGCAGCAGGTGGGCGAAGCACTCAGGGTCCTGGAGGGCGGAACCTTGGCTCTGGGTGCCCTGGACGAGGGGGAAGGGAGGGCACAGATCAGTCTCTTACTCACCCCTTAGCAGAGGGCACAGGCCAGGCCCCCCACCTAGGCAAAGACCCCTGGCTCCAGAAAAGGTAAGCATAGGTTGGGAACATTCTTAGAACCTCTTTCCTTTTATAAAGCCAATCCATAGCCAGGACGTACCATCCCTACCTCCACCCCTCAGCTGAGGGAGGGAGTCTGGCCATGAAACTGAAGGCACAGGGTAGAAACCTCTAAAATACCTTCAGTCCCGTCCAACGTGGGCCCAGGACCTCAGTTATAGCAAAAGGGAACATAGCTGTCTGCTCAGGGCCACCTTCCTCCTGCCATCCCTAATCCCGTACATGCAGCCCCCATGGCCTGTGGAAGGGAGCCCTGTCCAGGTGGGAGGCTGGACACAGGCTGGAGCTCCAGCCTTTCACCTGGCTTTGCTCCCCCGGCCGCTCCTCGCCCGCCTCCAGCAAGCTGGCTGCCTCCTTCAGCAGGTTGGGGATGACATCATTGGCTACTTCAAAGAACTCCTTGTAGATCTCCTCGTCTTCCCGGCAGTAGTTGTAGCTGTGAGAGCAGTGGGGTCTCTGTAGGGTCTGAAGGGGTCTCACCATCGGGGGTAGCCCCAGGGACCTGGCGGGGGATGGAGCCCCCAGGGGCTGGGGGAGTAGGTGGGGTCCTCACTGCAAAATGATGCTGTCTGGGTCAGCCCAGAGGAAGAAAGCAAGAATGAGGAGGGGGGCATGGGGCCGAGGGTGGAAGTCCCACTGCTGGATGATGGTGGTTAAACATTGGAGATTTGAGACTGTTCTGAGAAAAAAAAAATTAGGAGGAGAGGGGAGGGAGGGAAAGATGTGACACCTTAATCAGGGTCCCTACCTCCTGGGTAATGGTGGCCTTGCTGCCTAGGGACTGGATGGAAAGGGGATGGGGCGTGGGAGCCAGGCCTCAGTCCTGGACGAGGGTGGTTGGAAACTGATGGAGGGGAAGAAAGGACAGGCTGCAGGCCCTAGTAGGGGGATCCTCACTCCTGGATGACAGTGGCCGTGTCCGCCCAGGCCTGCAGGGCTTCCCGCACATTGCGGTTGCGACAGTGGTAGCCAGCCAGGTACATGTAGGGGTAGATGTGTTCATCCCGATAGTAGGTCTTGGCTGAGGCAATGCCCTGGATGGAGGTGAGGCAGAGGATCCTCAGGGAGGCAGCCCCAGCTGCCCTGCTGGCACAAATGCCCCACCAGGGCACACCCAGAAGGGGCCACAGGAAGATCCCAGGGAGTCCTCTCCATCTCCACTCCCACCTCCACTCGCTGCCAGCCCTTCTACCTGGTCTCCTCCCTGGGTCTACAGGACTGCTGGCTGAGGCCTGGGGCAGACTGCAGGGGTGGGGCCTGCCCTCCGAGCTCAGGGCCCTTCTCTTTCTCAGACACTCTTCTACACATCACCAAAGACTTTCAAGCCCAGCCCAATGGCCCTCCTCCCCACCTACACCCACCAAGTGAACACCCCCTCTTCATCAGTGCTCCTGCCACATTTGACCTCTGTTATACTCCAGGAAGGACAGTAAGCAGTGGCAGAAAAGGCAGGGCTGAGGGGACAA | AGTGCCCCCATCTGCAAAATGGGCACAGAGTGCCTCCCTCCGGGCCAGGCAGGTGCAGGTGACAGCACCTCCCGGGGCACGCCTCTCAGGGGTCTCGGAAACGTCAACCCTCCGCCCGCACCCCGCGCCCGCGGGCGCTCTGCCCTTCCTCTGGCGCAGAGGCCCGACCCGGGCCCTCACCTGGGTCTAGCTTGACTATCTTCACGGCGGCCAGTTCGGACGTGACCGTGTCGCGGGCCTGCAGGGGCGGAGGGTGAAGCGGGATGGGGGGCGGGGCCGGGGGCTAGATCCTGCCGCGGGGTGCGGGGCTGGCACCCTCCTCCCGGCTCTCCCGCCCGTCCCGTCGCACCTTGTAGACGTCGCCATAGGTCCCGGCCCCCACGCGCTGCAGCAGCTCGAAGCGGTCCCGCGGGTCCTGCAGCGACACATCCCGCAGCAGCGCCATGGCCCGGCGCCGGGCGGGCCGGCAGGCGGGCGGGCGCGAGCTGCGGAGCCGGCGCGGGGCGGCGCGGGGCGGGGCGGGCGCCCGTGGCTCTGAGGCCGCGGGGGCGGGGCTGAGGCCCGGGGGCGGGGCCGCGCCGGGGATGCCCCACCGCCAGTCCGGGAGGAGGCGCCCGCGGGACGGGCCCTCGGCGGCGCGGGGAAGCCCCAAGGCCGGGGCGGAGCCTACGTCCTTCCGCCGCCACTGTCGCTCGCGCTCCACAGGTAGGGAGCGCAAAGTCCCGGGAGCCAGAAGACAGAGGGAAGAGGGGGCGCTCCACTCCCCGCCCCATCCCCAATTTCCCAGATAAACATGGACTTGCGCTTTATATTTTTTTTAACAAAATGTATTCATCTTTCTTGGAACTGAAAAATAAATCTATGTACAAAACAGGAAGAGATCAGGCTCTTGTCACCCACTCCTAACCCTCTGCAGATTTCCTCCGGGATGCTCCGAGATGGGCTGGACCTCTGGGAGGTTCCCAGAGGGTCGGAAGGGAGGTCCTGCTCTGATCCGGGGCCAGTTTCGTCAGGAAGAGGGCGGGGCTCAGGATGCTCATAGGCTGGGGGCGGAGTTTTGTGTCCCAGACTCGGGATACGAAGGAGAGGAAACTAGGATTTCCAAATTCTGGAGCAGGACTGAAGTTATTTGGGGCAGGGAGCTTGGATTCGCAAGATATGGAATTCTGAAGTGCGGAAATATACTCCTAGGGGCTGAGTGGTCCTAGGCTCCCGGGCTGGAGGTGGGACCTGTGCTCCTTGGGTTAAGGGTGAAACCTCAGCTCCTACAAGCTGGGAGGAGCCCTGAGTAACGTTGGTCTGGCTCTAGGTGAGCGGTTCCGAGGAGGAGCTTGGGTTTCTAGGGGCTGGGCCTTTAAAGACTGGTAATTAGGACCCAGCGTGAGGTTTCCATTGGCCGGCTGGGATTCTGGGAGAAGAGACCTATATTCTAACGACTGGGGCAGAGCCCTGGGTTCTGAGCTGGAGAAAATCGTGGGTTTGATACAGACTGTACTCGGGACCGGGAACCTAGGGTTTGGGTAGAGGTGAGGCCTGTCCCCTTTGGGCTGGGGGCAGAACATGGGCTCAGAGTTGGGGGACTAAGGGCGGAGCCTGGGTCCCCACAAGCGGTCCGAAGTCCCCAGTAGTTCAGAGGCCTTTGCGCTGCCGCTTGAGGAAAGACAGAGTGTAGTCACTAGGGGTGGACACTTTCTGCTTCTTCATCTGCACTTGCGACTGTGCCGTGAGTTGCAGCTTGATGGCGCTCGAGTTGATCTTGGTGGCCACCAGCAGCTCCTTCATGCCCTTCATCTTCTCACTCTGGAAAGTGAGCACTGGACCCTCCGGCGGTGGTGATGCTGTGGGTGCTGGCACCTGAGCCGTGCTGCCACCTTCAGGGCCTCGGGCTGTGCCAGCGACAGTCCCAGGAGGCTTCCGGGGGGGTCCTGACACTGCACCCTGGCCGGTGCCCAGGCCCTTGTCCAGTGCTGGCTTCTTGGGCGGCGGGGGCTCCTCTGGCTTGGACTCCCGCCGTGGGCCCCGCCGCCGGCCTTCCCGGGCTTCCTCGCCCCACGGCTCCACGGCTCCTCGGCCTCGGCCGCCTCGGCCTCTCGGCTCACTATGCGCACCTTCTGCCGCACCTGGGCCAGTGGGGAGAGCAAGGTGAGAGCAAGGTTGCCGGCCAGTGGCTGGAACTCCAGGACCCTGCTCTGGCCATCCCATCCCACCCAGGGGGTCTCAGTCCCATCGGCACCCAAGGGGATGGGCAGATGCTGCCCCTGGGCCAGAAAAGTCTGACAAGCCCGTGGCTGCTGTCACCACCTGTAGTGCCCAGACCTCTGTGCAGCTGTCCCTCACCTGTCCCTCAAAACGGCCTAGGGACTGCACAAGAAAGGTGGCCCAGCCCACATGCAGCACAGGCGTGGGACTGCCCTCCTCCCATTTGCAGATGCCGTCGTAGAATCGCAGCAGGTGGGCGAAGCACTCAGGGTCCTGGAGGGCGGAACCTTGGCTCTGGGTGCCCTGGACGAGGGGGAAGGGAGGGCACAGATCAGTCTCTTACTCACCCCTTAGCAGAGGGCACAGGCCAGGCCCCCCACCTAGGCAAAGACCCCTGGCTCCAGAAAAGGTAAGCATAGGTTGGGAACATTCTTAGAACCTCTTTCCTTTTATAAAGCCAATCCATAGCCAGGACGTACCATCCCTACCTCCACCCCTCAGCTGAGGGAGGGAGTCTGGCCATGAAACTGAAGGCACAGGGTAGAAACCTCTAAAATACCTTCAGTCCCGTCCAACGTGGGCCCAGGACCTCAGTTATAGCAAAAGGGAACATAGCTGTCTGCTCAGGGCCACCTTCCTCCTGCCATCCCTAATCCCGTACATGCAGCCCCCATGGCCTGTGGAAGGGAGCCCTGTCCAGGTGGGAGGCTGGACACAGGCTGGAGCTCCAGCCTTTCACCTGGCTTTGCTCCCCCGGCCGCTCCTCGCCCGCCTCCAGCAAGCTGGCTGCCTCCTTCAGCAGGTTGGGGATGACATCATTGGCTACTTCAAAGAACTCCTTGTAGATCTCCTCGTCTTCCCGGCAGTAGTTGTAGCTGTGAGAGCAGTGGGGTCTCTGTAGGGTCTGAAGGGGTCTCACCATCGGGGGTAGCCCCAGGGACCTGGCGGGGGATGGAGCCCCCAGGGGCTGGGGGAGTAGGTGGGGTCCTCACTGCAAAATGATGCTGTCTGGGTCAGCCCAGAGGAAGAAAGCAAGAATGAGGAGGGGGGCATGGGGCCGAGGGTGGAAGTCCCACTGCTGGATGATGGTGGTTAAACATTGGAGATTTGAGACTGTTCTGAGAAAAAAAAAATTAGGAGGAGAGGGGAGGGAGGGAAAGATGTGACACCTTAATCAGGGTCCCTACCTCCTGGGTAATGGTGGCCTTGCTGCCTAGGGACTGGATGGAAAGGGGATGGGGCGTGGGAGCCAGGCCTCAGTCCTGGACGAGGGTGGTTGGAAACTGATGGAGGGGAAGAAAGGACAGGCTGCAGGCCCTAGTAGGGGGATCCTCACTCCTGGATGACAGTGGCCGTGTCCGCCCAGGCCTGCAGGGCTTCCCGCACATTGCGGTTGCGACAGTGGTAGCCAGCCAGGTACATGTAGGGGTAGATGTGTTCATCCCGATAGTAGGTCTTGGCTGAGGCAATGCCCTGGATGGAGGTGAGGCAGAGGATCCTCAGGGAGGCAGCCCCAGCTGCCCTGCTGGCACAAATGCCCCACCAGGGCACACCCAGAAGGGGCCACAGGAAGATCCCAGGGAGTCCTCTCCATCTCCACTCCCACCTCCACTCGCTGCCAGCCCTTCTACCTGGTCTCCTCCCTGGGTCTACAGGACTGCTGGCTGAGGCCTGGGGCAGACTGCAGGGGTGGGGCCTGCCCTCCGAGCTCAGGGCCCTTCTCTTTCTCAGACACTCTTCTACACATCACCAAAGACTTTCAAGCCCAGCCCAATGGCCCTCCTCCCCACCTACACCCACCAAGTGAACACCCCCTCTTCATCAGTGCTCCTGCCACATTTGACCTCTGTTATACTCCAGGAAGGACAGTAAGCAGTGGCAGAAAAGGCAGGGCTGA | pathogenic | 177,630 |
Evaluate this variant at chromosome 11, position 64804753, gene MEN1 (menin 1): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Multiple_endocrine_neoplasia,_type_1'] | AGTGCCCCCATCTGCAAAATGGGCACAGAGTGCCTCCCTCCGGGCCAGGCAGGTGCAGGTGACAGCACCTCCCGGGGCACGCCTCTCAGGGGTCTCGGAAACGTCAACCCTCCGCCCGCACCCCGCGCCCGCGGGCGCTCTGCCCTTCCTCTGGCGCAGAGGCCCGACCCGGGCCCTCACCTGGGTCTAGCTTGACTATCTTCACGGCGGCCAGTTCGGACGTGACCGTGTCGCGGGCCTGCAGGGGCGGAGGGTGAAGCGGGATGGGGGGCGGGGCCGGGGGCTAGATCCTGCCGCGGGGTGCGGGGCTGGCACCCTCCTCCCGGCTCTCCCGCCCGTCCCGTCGCACCTTGTAGACGTCGCCATAGGTCCCGGCCCCCACGCGCTGCAGCAGCTCGAAGCGGTCCCGCGGGTCCTGCAGCGACACATCCCGCAGCAGCGCCATGGCCCGGCGCCGGGCGGGCCGGCAGGCGGGCGGGCGCGAGCTGCGGAGCCGGCGCGGGGCGGCGCGGGGCGGGGCGGGCGCCCGTGGCTCTGAGGCCGCGGGGGCGGGGCTGAGGCCCGGGGGCGGGGCCGCGCCGGGGATGCCCCACCGCCAGTCCGGGAGGAGGCGCCCGCGGGACGGGCCCTCGGCGGCGCGGGGAAGCCCCAAGGCCGGGGCGGAGCCTACGTCCTTCCGCCGCCACTGTCGCTCGCGCTCCACAGGTAGGGAGCGCAAAGTCCCGGGAGCCAGAAGACAGAGGGAAGAGGGGGCGCTCCACTCCCCGCCCCATCCCCAATTTCCCAGATAAACATGGACTTGCGCTTTATATTTTTTTTAACAAAATGTATTCATCTTTCTTGGAACTGAAAAATAAATCTATGTACAAAACAGGAAGAGATCAGGCTCTTGTCACCCACTCCTAACCCTCTGCAGATTTCCTCCGGGATGCTCCGAGATGGGCTGGACCTCTGGGAGGTTCCCAGAGGGTCGGAAGGGAGGTCCTGCTCTGATCCGGGGCCAGTTTCGTCAGGAAGAGGGCGGGGCTCAGGATGCTCATAGGCTGGGGGCGGAGTTTTGTGTCCCAGACTCGGGATACGAAGGAGAGGAAACTAGGATTTCCAAATTCTGGAGCAGGACTGAAGTTATTTGGGGCAGGGAGCTTGGATTCGCAAGATATGGAATTCTGAAGTGCGGAAATATACTCCTAGGGGCTGAGTGGTCCTAGGCTCCCGGGCTGGAGGTGGGACCTGTGCTCCTTGGGTTAAGGGTGAAACCTCAGCTCCTACAAGCTGGGAGGAGCCCTGAGTAACGTTGGTCTGGCTCTAGGTGAGCGGTTCCGAGGAGGAGCTTGGGTTTCTAGGGGCTGGGCCTTTAAAGACTGGTAATTAGGACCCAGCGTGAGGTTTCCATTGGCCGGCTGGGATTCTGGGAGAAGAGACCTATATTCTAACGACTGGGGCAGAGCCCTGGGTTCTGAGCTGGAGAAAATCGTGGGTTTGATACAGACTGTACTCGGGACCGGGAACCTAGGGTTTGGGTAGAGGTGAGGCCTGTCCCCTTTGGGCTGGGGGCAGAACATGGGCTCAGAGTTGGGGGACTAAGGGCGGAGCCTGGGTCCCCACAAGCGGTCCGAAGTCCCCAGTAGTTCAGAGGCCTTTGCGCTGCCGCTTGAGGAAAGACAGAGTGTAGTCACTAGGGGTGGACACTTTCTGCTTCTTCATCTGCACTTGCGACTGTGCCGTGAGTTGCAGCTTGATGGCGCTCGAGTTGATCTTGGTGGCCACCAGCAGCTCCTTCATGCCCTTCATCTTCTCACTCTGGAAAGTGAGCACTGGACCCTCCGGCGGTGGTGATGCTGTGGGTGCTGGCACCTGAGCCGTGCTGCCACCTTCAGGGCCTCGGGCTGTGCCAGCGACAGTCCCAGGAGGCTTCCGGGGGGGTCCTGACACTGCACCCTGGCCGGTGCCCAGGCCCTTGTCCAGTGCTGGCTTCTTGGGCGGCGGGGGCTCCTCTGGCTTGGACTCCCGCCGTGGGCCCCGCCGCCGGCCTTCCCGGGCTTCCTCGCCCCACGGCTCCTCGGCCTCGGCCGCCTCGGCCTCTCGGCTCACTATGCGCACCTTCTGCCGCACCTGGGCCAGTGGGGAGAGCAAGGTGAGAGCAAGGTTGCCGGCCAGTGGCTGGAACTCCAGGACCCTGCTCTGGCCATCCCATCCCACCCAGGGGGTCTCAGTCCCATCGGCACCCAAGGGGATGGGCAGATGCTGCCCCTGGGCCAGAAAAGTCTGACAAGCCCGTGGCTGCTGTCACCACCTGTAGTGCCCAGACCTCTGTGCAGCTGTCCCTCACCTGTCCCTCAAAACGGCCTAGGGACTGCACAAGAAAGGTGGCCCAGCCCACATGCAGCACAGGCGTGGGACTGCCCTCCTCCCATTTGCAGATGCCGTCGTAGAATCGCAGCAGGTGGGCGAAGCACTCAGGGTCCTGGAGGGCGGAACCTTGGCTCTGGGTGCCCTGGACGAGGGGGAAGGGAGGGCACAGATCAGTCTCTTACTCACCCCTTAGCAGAGGGCACAGGCCAGGCCCCCCACCTAGGCAAAGACCCCTGGCTCCAGAAAAGGTAAGCATAGGTTGGGAACATTCTTAGAACCTCTTTCCTTTTATAAAGCCAATCCATAGCCAGGACGTACCATCCCTACCTCCACCCCTCAGCTGAGGGAGGGAGTCTGGCCATGAAACTGAAGGCACAGGGTAGAAACCTCTAAAATACCTTCAGTCCCGTCCAACGTGGGCCCAGGACCTCAGTTATAGCAAAAGGGAACATAGCTGTCTGCTCAGGGCCACCTTCCTCCTGCCATCCCTAATCCCGTACATGCAGCCCCCATGGCCTGTGGAAGGGAGCCCTGTCCAGGTGGGAGGCTGGACACAGGCTGGAGCTCCAGCCTTTCACCTGGCTTTGCTCCCCCGGCCGCTCCTCGCCCGCCTCCAGCAAGCTGGCTGCCTCCTTCAGCAGGTTGGGGATGACATCATTGGCTACTTCAAAGAACTCCTTGTAGATCTCCTCGTCTTCCCGGCAGTAGTTGTAGCTGTGAGAGCAGTGGGGTCTCTGTAGGGTCTGAAGGGGTCTCACCATCGGGGGTAGCCCCAGGGACCTGGCGGGGGATGGAGCCCCCAGGGGCTGGGGGAGTAGGTGGGGTCCTCACTGCAAAATGATGCTGTCTGGGTCAGCCCAGAGGAAGAAAGCAAGAATGAGGAGGGGGGCATGGGGCCGAGGGTGGAAGTCCCACTGCTGGATGATGGTGGTTAAACATTGGAGATTTGAGACTGTTCTGAGAAAAAAAAAATTAGGAGGAGAGGGGAGGGAGGGAAAGATGTGACACCTTAATCAGGGTCCCTACCTCCTGGGTAATGGTGGCCTTGCTGCCTAGGGACTGGATGGAAAGGGGATGGGGCGTGGGAGCCAGGCCTCAGTCCTGGACGAGGGTGGTTGGAAACTGATGGAGGGGAAGAAAGGACAGGCTGCAGGCCCTAGTAGGGGGATCCTCACTCCTGGATGACAGTGGCCGTGTCCGCCCAGGCCTGCAGGGCTTCCCGCACATTGCGGTTGCGACAGTGGTAGCCAGCCAGGTACATGTAGGGGTAGATGTGTTCATCCCGATAGTAGGTCTTGGCTGAGGCAATGCCCTGGATGGAGGTGAGGCAGAGGATCCTCAGGGAGGCAGCCCCAGCTGCCCTGCTGGCACAAATGCCCCACCAGGGCACACCCAGAAGGGGCCACAGGAAGATCCCAGGGAGTCCTCTCCATCTCCACTCCCACCTCCACTCGCTGCCAGCCCTTCTACCTGGTCTCCTCCCTGGGTCTACAGGACTGCTGGCTGAGGCCTGGGGCAGACTGCAGGGGTGGGGCCTGCCCTCCGAGCTCAGGGCCCTTCTCTTTCTCAGACACTCTTCTACACATCACCAAAGACTTTCAAGCCCAGCCCAATGGCCCTCCTCCCCACCTACACCCACCAAGTGAACACCCCCTCTTCATCAGTGCTCCTGCCACATTTGACCTCTGTTATACTCCAGGAAGGACAGTAAGCAGTGGCAGAAAAGGCAGGGCTGAGGGGACAA | AGTGCCCCCATCTGCAAAATGGGCACAGAGTGCCTCCCTCCGGGCCAGGCAGGTGCAGGTGACAGCACCTCCCGGGGCACGCCTCTCAGGGGTCTCGGAAACGTCAACCCTCCGCCCGCACCCCGCGCCCGCGGGCGCTCTGCCCTTCCTCTGGCGCAGAGGCCCGACCCGGGCCCTCACCTGGGTCTAGCTTGACTATCTTCACGGCGGCCAGTTCGGACGTGACCGTGTCGCGGGCCTGCAGGGGCGGAGGGTGAAGCGGGATGGGGGGCGGGGCCGGGGGCTAGATCCTGCCGCGGGGTGCGGGGCTGGCACCCTCCTCCCGGCTCTCCCGCCCGTCCCGTCGCACCTTGTAGACGTCGCCATAGGTCCCGGCCCCCACGCGCTGCAGCAGCTCGAAGCGGTCCCGCGGGTCCTGCAGCGACACATCCCGCAGCAGCGCCATGGCCCGGCGCCGGGCGGGCCGGCAGGCGGGCGGGCGCGAGCTGCGGAGCCGGCGCGGGGCGGCGCGGGGCGGGGCGGGCGCCCGTGGCTCTGAGGCCGCGGGGGCGGGGCTGAGGCCCGGGGGCGGGGCCGCGCCGGGGATGCCCCACCGCCAGTCCGGGAGGAGGCGCCCGCGGGACGGGCCCTCGGCGGCGCGGGGAAGCCCCAAGGCCGGGGCGGAGCCTACGTCCTTCCGCCGCCACTGTCGCTCGCGCTCCACAGGTAGGGAGCGCAAAGTCCCGGGAGCCAGAAGACAGAGGGAAGAGGGGGCGCTCCACTCCCCGCCCCATCCCCAATTTCCCAGATAAACATGGACTTGCGCTTTATATTTTTTTTAACAAAATGTATTCATCTTTCTTGGAACTGAAAAATAAATCTATGTACAAAACAGGAAGAGATCAGGCTCTTGTCACCCACTCCTAACCCTCTGCAGATTTCCTCCGGGATGCTCCGAGATGGGCTGGACCTCTGGGAGGTTCCCAGAGGGTCGGAAGGGAGGTCCTGCTCTGATCCGGGGCCAGTTTCGTCAGGAAGAGGGCGGGGCTCAGGATGCTCATAGGCTGGGGGCGGAGTTTTGTGTCCCAGACTCGGGATACGAAGGAGAGGAAACTAGGATTTCCAAATTCTGGAGCAGGACTGAAGTTATTTGGGGCAGGGAGCTTGGATTCGCAAGATATGGAATTCTGAAGTGCGGAAATATACTCCTAGGGGCTGAGTGGTCCTAGGCTCCCGGGCTGGAGGTGGGACCTGTGCTCCTTGGGTTAAGGGTGAAACCTCAGCTCCTACAAGCTGGGAGGAGCCCTGAGTAACGTTGGTCTGGCTCTAGGTGAGCGGTTCCGAGGAGGAGCTTGGGTTTCTAGGGGCTGGGCCTTTAAAGACTGGTAATTAGGACCCAGCGTGAGGTTTCCATTGGCCGGCTGGGATTCTGGGAGAAGAGACCTATATTCTAACGACTGGGGCAGAGCCCTGGGTTCTGAGCTGGAGAAAATCGTGGGTTTGATACAGACTGTACTCGGGACCGGGAACCTAGGGTTTGGGTAGAGGTGAGGCCTGTCCCCTTTGGGCTGGGGGCAGAACATGGGCTCAGAGTTGGGGGACTAAGGGCGGAGCCTGGGTCCCCACAAGCGGTCCGAAGTCCCCAGTAGTTCAGAGGCCTTTGCGCTGCCGCTTGAGGAAAGACAGAGTGTAGTCACTAGGGGTGGACACTTTCTGCTTCTTCATCTGCACTTGCGACTGTGCCGTGAGTTGCAGCTTGATGGCGCTCGAGTTGATCTTGGTGGCCACCAGCAGCTCCTTCATGCCCTTCATCTTCTCACTCTGGAAAGTGAGCACTGGACCCTCCGGCGGTGGTGATGCTGTGGGTGCTGGCACCTGAGCCGTGCTGCCACCTTCAGGGCCTCGGGCTGTGCCAGCGACAGTCCCAGGAGGCTTCCGGGGGGGTCCTGACACTGCACCCTGGCCGGTGCCCAGGCCCTTGTCCAGTGCTGGCTTCTTGGGCGGCGGGGGCTCCTCTGGCTTGGACTCCCGCCGTGGGCCCCGCCGCCGGCCTTCCCGGGCTTCCTCGCCCCTCGGCCGCCTCGGCCTCTCGGCTCACTATGCGCACCTTCTGCCGCACCTGGGCCAGTGGGGAGAGCAAGGTGAGAGCAAGGTTGCCGGCCAGTGGCTGGAACTCCAGGACCCTGCTCTGGCCATCCCATCCCACCCAGGGGGTCTCAGTCCCATCGGCACCCAAGGGGATGGGCAGATGCTGCCCCTGGGCCAGAAAAGTCTGACAAGCCCGTGGCTGCTGTCACCACCTGTAGTGCCCAGACCTCTGTGCAGCTGTCCCTCACCTGTCCCTCAAAACGGCCTAGGGACTGCACAAGAAAGGTGGCCCAGCCCACATGCAGCACAGGCGTGGGACTGCCCTCCTCCCATTTGCAGATGCCGTCGTAGAATCGCAGCAGGTGGGCGAAGCACTCAGGGTCCTGGAGGGCGGAACCTTGGCTCTGGGTGCCCTGGACGAGGGGGAAGGGAGGGCACAGATCAGTCTCTTACTCACCCCTTAGCAGAGGGCACAGGCCAGGCCCCCCACCTAGGCAAAGACCCCTGGCTCCAGAAAAGGTAAGCATAGGTTGGGAACATTCTTAGAACCTCTTTCCTTTTATAAAGCCAATCCATAGCCAGGACGTACCATCCCTACCTCCACCCCTCAGCTGAGGGAGGGAGTCTGGCCATGAAACTGAAGGCACAGGGTAGAAACCTCTAAAATACCTTCAGTCCCGTCCAACGTGGGCCCAGGACCTCAGTTATAGCAAAAGGGAACATAGCTGTCTGCTCAGGGCCACCTTCCTCCTGCCATCCCTAATCCCGTACATGCAGCCCCCATGGCCTGTGGAAGGGAGCCCTGTCCAGGTGGGAGGCTGGACACAGGCTGGAGCTCCAGCCTTTCACCTGGCTTTGCTCCCCCGGCCGCTCCTCGCCCGCCTCCAGCAAGCTGGCTGCCTCCTTCAGCAGGTTGGGGATGACATCATTGGCTACTTCAAAGAACTCCTTGTAGATCTCCTCGTCTTCCCGGCAGTAGTTGTAGCTGTGAGAGCAGTGGGGTCTCTGTAGGGTCTGAAGGGGTCTCACCATCGGGGGTAGCCCCAGGGACCTGGCGGGGGATGGAGCCCCCAGGGGCTGGGGGAGTAGGTGGGGTCCTCACTGCAAAATGATGCTGTCTGGGTCAGCCCAGAGGAAGAAAGCAAGAATGAGGAGGGGGGCATGGGGCCGAGGGTGGAAGTCCCACTGCTGGATGATGGTGGTTAAACATTGGAGATTTGAGACTGTTCTGAGAAAAAAAAAATTAGGAGGAGAGGGGAGGGAGGGAAAGATGTGACACCTTAATCAGGGTCCCTACCTCCTGGGTAATGGTGGCCTTGCTGCCTAGGGACTGGATGGAAAGGGGATGGGGCGTGGGAGCCAGGCCTCAGTCCTGGACGAGGGTGGTTGGAAACTGATGGAGGGGAAGAAAGGACAGGCTGCAGGCCCTAGTAGGGGGATCCTCACTCCTGGATGACAGTGGCCGTGTCCGCCCAGGCCTGCAGGGCTTCCCGCACATTGCGGTTGCGACAGTGGTAGCCAGCCAGGTACATGTAGGGGTAGATGTGTTCATCCCGATAGTAGGTCTTGGCTGAGGCAATGCCCTGGATGGAGGTGAGGCAGAGGATCCTCAGGGAGGCAGCCCCAGCTGCCCTGCTGGCACAAATGCCCCACCAGGGCACACCCAGAAGGGGCCACAGGAAGATCCCAGGGAGTCCTCTCCATCTCCACTCCCACCTCCACTCGCTGCCAGCCCTTCTACCTGGTCTCCTCCCTGGGTCTACAGGACTGCTGGCTGAGGCCTGGGGCAGACTGCAGGGGTGGGGCCTGCCCTCCGAGCTCAGGGCCCTTCTCTTTCTCAGACACTCTTCTACACATCACCAAAGACTTTCAAGCCCAGCCCAATGGCCCTCCTCCCCACCTACACCCACCAAGTGAACACCCCCTCTTCATCAGTGCTCCTGCCACATTTGACCTCTGTTATACTCCAGGAAGGACAGTAAGCAGTGGCAGAAAAGGCAGGGCTGAGGGGACAANNNNNNNNNNNNNN | pathogenic | 177,631 |
Variant chromosome 11, position 64804775, gene MEN1 (menin 1): benign or pathogenic? Disease(s)? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Multiple_endocrine_neoplasia,_type_1'] | GCACAGAGTGCCTCCCTCCGGGCCAGGCAGGTGCAGGTGACAGCACCTCCCGGGGCACGCCTCTCAGGGGTCTCGGAAACGTCAACCCTCCGCCCGCACCCCGCGCCCGCGGGCGCTCTGCCCTTCCTCTGGCGCAGAGGCCCGACCCGGGCCCTCACCTGGGTCTAGCTTGACTATCTTCACGGCGGCCAGTTCGGACGTGACCGTGTCGCGGGCCTGCAGGGGCGGAGGGTGAAGCGGGATGGGGGGCGGGGCCGGGGGCTAGATCCTGCCGCGGGGTGCGGGGCTGGCACCCTCCTCCCGGCTCTCCCGCCCGTCCCGTCGCACCTTGTAGACGTCGCCATAGGTCCCGGCCCCCACGCGCTGCAGCAGCTCGAAGCGGTCCCGCGGGTCCTGCAGCGACACATCCCGCAGCAGCGCCATGGCCCGGCGCCGGGCGGGCCGGCAGGCGGGCGGGCGCGAGCTGCGGAGCCGGCGCGGGGCGGCGCGGGGCGGGGCGGGCGCCCGTGGCTCTGAGGCCGCGGGGGCGGGGCTGAGGCCCGGGGGCGGGGCCGCGCCGGGGATGCCCCACCGCCAGTCCGGGAGGAGGCGCCCGCGGGACGGGCCCTCGGCGGCGCGGGGAAGCCCCAAGGCCGGGGCGGAGCCTACGTCCTTCCGCCGCCACTGTCGCTCGCGCTCCACAGGTAGGGAGCGCAAAGTCCCGGGAGCCAGAAGACAGAGGGAAGAGGGGGCGCTCCACTCCCCGCCCCATCCCCAATTTCCCAGATAAACATGGACTTGCGCTTTATATTTTTTTTAACAAAATGTATTCATCTTTCTTGGAACTGAAAAATAAATCTATGTACAAAACAGGAAGAGATCAGGCTCTTGTCACCCACTCCTAACCCTCTGCAGATTTCCTCCGGGATGCTCCGAGATGGGCTGGACCTCTGGGAGGTTCCCAGAGGGTCGGAAGGGAGGTCCTGCTCTGATCCGGGGCCAGTTTCGTCAGGAAGAGGGCGGGGCTCAGGATGCTCATAGGCTGGGGGCGGAGTTTTGTGTCCCAGACTCGGGATACGAAGGAGAGGAAACTAGGATTTCCAAATTCTGGAGCAGGACTGAAGTTATTTGGGGCAGGGAGCTTGGATTCGCAAGATATGGAATTCTGAAGTGCGGAAATATACTCCTAGGGGCTGAGTGGTCCTAGGCTCCCGGGCTGGAGGTGGGACCTGTGCTCCTTGGGTTAAGGGTGAAACCTCAGCTCCTACAAGCTGGGAGGAGCCCTGAGTAACGTTGGTCTGGCTCTAGGTGAGCGGTTCCGAGGAGGAGCTTGGGTTTCTAGGGGCTGGGCCTTTAAAGACTGGTAATTAGGACCCAGCGTGAGGTTTCCATTGGCCGGCTGGGATTCTGGGAGAAGAGACCTATATTCTAACGACTGGGGCAGAGCCCTGGGTTCTGAGCTGGAGAAAATCGTGGGTTTGATACAGACTGTACTCGGGACCGGGAACCTAGGGTTTGGGTAGAGGTGAGGCCTGTCCCCTTTGGGCTGGGGGCAGAACATGGGCTCAGAGTTGGGGGACTAAGGGCGGAGCCTGGGTCCCCACAAGCGGTCCGAAGTCCCCAGTAGTTCAGAGGCCTTTGCGCTGCCGCTTGAGGAAAGACAGAGTGTAGTCACTAGGGGTGGACACTTTCTGCTTCTTCATCTGCACTTGCGACTGTGCCGTGAGTTGCAGCTTGATGGCGCTCGAGTTGATCTTGGTGGCCACCAGCAGCTCCTTCATGCCCTTCATCTTCTCACTCTGGAAAGTGAGCACTGGACCCTCCGGCGGTGGTGATGCTGTGGGTGCTGGCACCTGAGCCGTGCTGCCACCTTCAGGGCCTCGGGCTGTGCCAGCGACAGTCCCAGGAGGCTTCCGGGGGGGTCCTGACACTGCACCCTGGCCGGTGCCCAGGCCCTTGTCCAGTGCTGGCTTCTTGGGCGGCGGGGGCTCCTCTGGCTTGGACTCCCGCCGTGGGCCCCGCCGCCGGCCTTCCCGGGCTTCCTCGCCCCACGGCTCCTCGGCCTCGGCCGCCTCGGCCTCTCGGCTCACTATGCGCACCTTCTGCCGCACCTGGGCCAGTGGGGAGAGCAAGGTGAGAGCAAGGTTGCCGGCCAGTGGCTGGAACTCCAGGACCCTGCTCTGGCCATCCCATCCCACCCAGGGGGTCTCAGTCCCATCGGCACCCAAGGGGATGGGCAGATGCTGCCCCTGGGCCAGAAAAGTCTGACAAGCCCGTGGCTGCTGTCACCACCTGTAGTGCCCAGACCTCTGTGCAGCTGTCCCTCACCTGTCCCTCAAAACGGCCTAGGGACTGCACAAGAAAGGTGGCCCAGCCCACATGCAGCACAGGCGTGGGACTGCCCTCCTCCCATTTGCAGATGCCGTCGTAGAATCGCAGCAGGTGGGCGAAGCACTCAGGGTCCTGGAGGGCGGAACCTTGGCTCTGGGTGCCCTGGACGAGGGGGAAGGGAGGGCACAGATCAGTCTCTTACTCACCCCTTAGCAGAGGGCACAGGCCAGGCCCCCCACCTAGGCAAAGACCCCTGGCTCCAGAAAAGGTAAGCATAGGTTGGGAACATTCTTAGAACCTCTTTCCTTTTATAAAGCCAATCCATAGCCAGGACGTACCATCCCTACCTCCACCCCTCAGCTGAGGGAGGGAGTCTGGCCATGAAACTGAAGGCACAGGGTAGAAACCTCTAAAATACCTTCAGTCCCGTCCAACGTGGGCCCAGGACCTCAGTTATAGCAAAAGGGAACATAGCTGTCTGCTCAGGGCCACCTTCCTCCTGCCATCCCTAATCCCGTACATGCAGCCCCCATGGCCTGTGGAAGGGAGCCCTGTCCAGGTGGGAGGCTGGACACAGGCTGGAGCTCCAGCCTTTCACCTGGCTTTGCTCCCCCGGCCGCTCCTCGCCCGCCTCCAGCAAGCTGGCTGCCTCCTTCAGCAGGTTGGGGATGACATCATTGGCTACTTCAAAGAACTCCTTGTAGATCTCCTCGTCTTCCCGGCAGTAGTTGTAGCTGTGAGAGCAGTGGGGTCTCTGTAGGGTCTGAAGGGGTCTCACCATCGGGGGTAGCCCCAGGGACCTGGCGGGGGATGGAGCCCCCAGGGGCTGGGGGAGTAGGTGGGGTCCTCACTGCAAAATGATGCTGTCTGGGTCAGCCCAGAGGAAGAAAGCAAGAATGAGGAGGGGGGCATGGGGCCGAGGGTGGAAGTCCCACTGCTGGATGATGGTGGTTAAACATTGGAGATTTGAGACTGTTCTGAGAAAAAAAAAATTAGGAGGAGAGGGGAGGGAGGGAAAGATGTGACACCTTAATCAGGGTCCCTACCTCCTGGGTAATGGTGGCCTTGCTGCCTAGGGACTGGATGGAAAGGGGATGGGGCGTGGGAGCCAGGCCTCAGTCCTGGACGAGGGTGGTTGGAAACTGATGGAGGGGAAGAAAGGACAGGCTGCAGGCCCTAGTAGGGGGATCCTCACTCCTGGATGACAGTGGCCGTGTCCGCCCAGGCCTGCAGGGCTTCCCGCACATTGCGGTTGCGACAGTGGTAGCCAGCCAGGTACATGTAGGGGTAGATGTGTTCATCCCGATAGTAGGTCTTGGCTGAGGCAATGCCCTGGATGGAGGTGAGGCAGAGGATCCTCAGGGAGGCAGCCCCAGCTGCCCTGCTGGCACAAATGCCCCACCAGGGCACACCCAGAAGGGGCCACAGGAAGATCCCAGGGAGTCCTCTCCATCTCCACTCCCACCTCCACTCGCTGCCAGCCCTTCTACCTGGTCTCCTCCCTGGGTCTACAGGACTGCTGGCTGAGGCCTGGGGCAGACTGCAGGGGTGGGGCCTGCCCTCCGAGCTCAGGGCCCTTCTCTTTCTCAGACACTCTTCTACACATCACCAAAGACTTTCAAGCCCAGCCCAATGGCCCTCCTCCCCACCTACACCCACCAAGTGAACACCCCCTCTTCATCAGTGCTCCTGCCACATTTGACCTCTGTTATACTCCAGGAAGGACAGTAAGCAGTGGCAGAAAAGGCAGGGCTGAGGGGACAAATGCAGCCCCTGCCACTCCCAG | GCACAGAGTGCCTCCCTCCGGGCCAGGCAGGTGCAGGTGACAGCACCTCCCGGGGCACGCCTCTCAGGGGTCTCGGAAACGTCAACCCTCCGCCCGCACCCCGCGCCCGCGGGCGCTCTGCCCTTCCTCTGGCGCAGAGGCCCGACCCGGGCCCTCACCTGGGTCTAGCTTGACTATCTTCACGGCGGCCAGTTCGGACGTGACCGTGTCGCGGGCCTGCAGGGGCGGAGGGTGAAGCGGGATGGGGGGCGGGGCCGGGGGCTAGATCCTGCCGCGGGGTGCGGGGCTGGCACCCTCCTCCCGGCTCTCCCGCCCGTCCCGTCGCACCTTGTAGACGTCGCCATAGGTCCCGGCCCCCACGCGCTGCAGCAGCTCGAAGCGGTCCCGCGGGTCCTGCAGCGACACATCCCGCAGCAGCGCCATGGCCCGGCGCCGGGCGGGCCGGCAGGCGGGCGGGCGCGAGCTGCGGAGCCGGCGCGGGGCGGCGCGGGGCGGGGCGGGCGCCCGTGGCTCTGAGGCCGCGGGGGCGGGGCTGAGGCCCGGGGGCGGGGCCGCGCCGGGGATGCCCCACCGCCAGTCCGGGAGGAGGCGCCCGCGGGACGGGCCCTCGGCGGCGCGGGGAAGCCCCAAGGCCGGGGCGGAGCCTACGTCCTTCCGCCGCCACTGTCGCTCGCGCTCCACAGGTAGGGAGCGCAAAGTCCCGGGAGCCAGAAGACAGAGGGAAGAGGGGGCGCTCCACTCCCCGCCCCATCCCCAATTTCCCAGATAAACATGGACTTGCGCTTTATATTTTTTTTAACAAAATGTATTCATCTTTCTTGGAACTGAAAAATAAATCTATGTACAAAACAGGAAGAGATCAGGCTCTTGTCACCCACTCCTAACCCTCTGCAGATTTCCTCCGGGATGCTCCGAGATGGGCTGGACCTCTGGGAGGTTCCCAGAGGGTCGGAAGGGAGGTCCTGCTCTGATCCGGGGCCAGTTTCGTCAGGAAGAGGGCGGGGCTCAGGATGCTCATAGGCTGGGGGCGGAGTTTTGTGTCCCAGACTCGGGATACGAAGGAGAGGAAACTAGGATTTCCAAATTCTGGAGCAGGACTGAAGTTATTTGGGGCAGGGAGCTTGGATTCGCAAGATATGGAATTCTGAAGTGCGGAAATATACTCCTAGGGGCTGAGTGGTCCTAGGCTCCCGGGCTGGAGGTGGGACCTGTGCTCCTTGGGTTAAGGGTGAAACCTCAGCTCCTACAAGCTGGGAGGAGCCCTGAGTAACGTTGGTCTGGCTCTAGGTGAGCGGTTCCGAGGAGGAGCTTGGGTTTCTAGGGGCTGGGCCTTTAAAGACTGGTAATTAGGACCCAGCGTGAGGTTTCCATTGGCCGGCTGGGATTCTGGGAGAAGAGACCTATATTCTAACGACTGGGGCAGAGCCCTGGGTTCTGAGCTGGAGAAAATCGTGGGTTTGATACAGACTGTACTCGGGACCGGGAACCTAGGGTTTGGGTAGAGGTGAGGCCTGTCCCCTTTGGGCTGGGGGCAGAACATGGGCTCAGAGTTGGGGGACTAAGGGCGGAGCCTGGGTCCCCACAAGCGGTCCGAAGTCCCCAGTAGTTCAGAGGCCTTTGCGCTGCCGCTTGAGGAAAGACAGAGTGTAGTCACTAGGGGTGGACACTTTCTGCTTCTTCATCTGCACTTGCGACTGTGCCGTGAGTTGCAGCTTGATGGCGCTCGAGTTGATCTTGGTGGCCACCAGCAGCTCCTTCATGCCCTTCATCTTCTCACTCTGGAAAGTGAGCACTGGACCCTCCGGCGGTGGTGATGCTGTGGGTGCTGGCACCTGAGCCGTGCTGCCACCTTCAGGGCCTCGGGCTGTGCCAGCGACAGTCCCAGGAGGCTTCCGGGGGGGTCCTGACACTGCACCCTGGCCGGTGCCCAGGCCCTTGTCCAGTGCTGGCTTCTTGGGCGGCGGGGGCTCCTCTGGCTTGGACTCCCGCCGTGGGCCCCGCCGCCGGCCTTCCCGGGCTTCCTCGCCCCACGGCTCCTCGGCCTCGGCCGCCTCGGCCTCTCGGCTGCCTCGGCCTCTCGGCTCACTATGCGCACCTTCTGCCGCACCTGGGCCAGTGGGGAGAGCAAGGTGAGAGCAAGGTTGCCGGCCAGTGGCTGGAACTCCAGGACCCTGCTCTGGCCATCCCATCCCACCCAGGGGGTCTCAGTCCCATCGGCACCCAAGGGGATGGGCAGATGCTGCCCCTGGGCCAGAAAAGTCTGACAAGCCCGTGGCTGCTGTCACCACCTGTAGTGCCCAGACCTCTGTGCAGCTGTCCCTCACCTGTCCCTCAAAACGGCCTAGGGACTGCACAAGAAAGGTGGCCCAGCCCACATGCAGCACAGGCGTGGGACTGCCCTCCTCCCATTTGCAGATGCCGTCGTAGAATCGCAGCAGGTGGGCGAAGCACTCAGGGTCCTGGAGGGCGGAACCTTGGCTCTGGGTGCCCTGGACGAGGGGGAAGGGAGGGCACAGATCAGTCTCTTACTCACCCCTTAGCAGAGGGCACAGGCCAGGCCCCCCACCTAGGCAAAGACCCCTGGCTCCAGAAAAGGTAAGCATAGGTTGGGAACATTCTTAGAACCTCTTTCCTTTTATAAAGCCAATCCATAGCCAGGACGTACCATCCCTACCTCCACCCCTCAGCTGAGGGAGGGAGTCTGGCCATGAAACTGAAGGCACAGGGTAGAAACCTCTAAAATACCTTCAGTCCCGTCCAACGTGGGCCCAGGACCTCAGTTATAGCAAAAGGGAACATAGCTGTCTGCTCAGGGCCACCTTCCTCCTGCCATCCCTAATCCCGTACATGCAGCCCCCATGGCCTGTGGAAGGGAGCCCTGTCCAGGTGGGAGGCTGGACACAGGCTGGAGCTCCAGCCTTTCACCTGGCTTTGCTCCCCCGGCCGCTCCTCGCCCGCCTCCAGCAAGCTGGCTGCCTCCTTCAGCAGGTTGGGGATGACATCATTGGCTACTTCAAAGAACTCCTTGTAGATCTCCTCGTCTTCCCGGCAGTAGTTGTAGCTGTGAGAGCAGTGGGGTCTCTGTAGGGTCTGAAGGGGTCTCACCATCGGGGGTAGCCCCAGGGACCTGGCGGGGGATGGAGCCCCCAGGGGCTGGGGGAGTAGGTGGGGTCCTCACTGCAAAATGATGCTGTCTGGGTCAGCCCAGAGGAAGAAAGCAAGAATGAGGAGGGGGGCATGGGGCCGAGGGTGGAAGTCCCACTGCTGGATGATGGTGGTTAAACATTGGAGATTTGAGACTGTTCTGAGAAAAAAAAAATTAGGAGGAGAGGGGAGGGAGGGAAAGATGTGACACCTTAATCAGGGTCCCTACCTCCTGGGTAATGGTGGCCTTGCTGCCTAGGGACTGGATGGAAAGGGGATGGGGCGTGGGAGCCAGGCCTCAGTCCTGGACGAGGGTGGTTGGAAACTGATGGAGGGGAAGAAAGGACAGGCTGCAGGCCCTAGTAGGGGGATCCTCACTCCTGGATGACAGTGGCCGTGTCCGCCCAGGCCTGCAGGGCTTCCCGCACATTGCGGTTGCGACAGTGGTAGCCAGCCAGGTACATGTAGGGGTAGATGTGTTCATCCCGATAGTAGGTCTTGGCTGAGGCAATGCCCTGGATGGAGGTGAGGCAGAGGATCCTCAGGGAGGCAGCCCCAGCTGCCCTGCTGGCACAAATGCCCCACCAGGGCACACCCAGAAGGGGCCACAGGAAGATCCCAGGGAGTCCTCTCCATCTCCACTCCCACCTCCACTCGCTGCCAGCCCTTCTACCTGGTCTCCTCCCTGGGTCTACAGGACTGCTGGCTGAGGCCTGGGGCAGACTGCAGGGGTGGGGCCTGCCCTCCGAGCTCAGGGCCCTTCTCTTTCTCAGACACTCTTCTACACATCACCAAAGACTTTCAAGCCCAGCCCAATGGCCCTCCTCCCCACCTACACCCACCAAGTGAACACCCCCTCTTCATCAGTGCTCCTGCCACATTTGACCTCTGTTATACTCCAGGAAGGACAGTAAGCAGTGGCAGAAAAGGCAGGGCTGAGGGGACAAATGCA | pathogenic | 177,640 |
Mutation at chromosome 11, position 64804777, within MEN1 (menin 1): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Multiple_endocrine_neoplasia,_type_1'] | ACAGAGTGCCTCCCTCCGGGCCAGGCAGGTGCAGGTGACAGCACCTCCCGGGGCACGCCTCTCAGGGGTCTCGGAAACGTCAACCCTCCGCCCGCACCCCGCGCCCGCGGGCGCTCTGCCCTTCCTCTGGCGCAGAGGCCCGACCCGGGCCCTCACCTGGGTCTAGCTTGACTATCTTCACGGCGGCCAGTTCGGACGTGACCGTGTCGCGGGCCTGCAGGGGCGGAGGGTGAAGCGGGATGGGGGGCGGGGCCGGGGGCTAGATCCTGCCGCGGGGTGCGGGGCTGGCACCCTCCTCCCGGCTCTCCCGCCCGTCCCGTCGCACCTTGTAGACGTCGCCATAGGTCCCGGCCCCCACGCGCTGCAGCAGCTCGAAGCGGTCCCGCGGGTCCTGCAGCGACACATCCCGCAGCAGCGCCATGGCCCGGCGCCGGGCGGGCCGGCAGGCGGGCGGGCGCGAGCTGCGGAGCCGGCGCGGGGCGGCGCGGGGCGGGGCGGGCGCCCGTGGCTCTGAGGCCGCGGGGGCGGGGCTGAGGCCCGGGGGCGGGGCCGCGCCGGGGATGCCCCACCGCCAGTCCGGGAGGAGGCGCCCGCGGGACGGGCCCTCGGCGGCGCGGGGAAGCCCCAAGGCCGGGGCGGAGCCTACGTCCTTCCGCCGCCACTGTCGCTCGCGCTCCACAGGTAGGGAGCGCAAAGTCCCGGGAGCCAGAAGACAGAGGGAAGAGGGGGCGCTCCACTCCCCGCCCCATCCCCAATTTCCCAGATAAACATGGACTTGCGCTTTATATTTTTTTTAACAAAATGTATTCATCTTTCTTGGAACTGAAAAATAAATCTATGTACAAAACAGGAAGAGATCAGGCTCTTGTCACCCACTCCTAACCCTCTGCAGATTTCCTCCGGGATGCTCCGAGATGGGCTGGACCTCTGGGAGGTTCCCAGAGGGTCGGAAGGGAGGTCCTGCTCTGATCCGGGGCCAGTTTCGTCAGGAAGAGGGCGGGGCTCAGGATGCTCATAGGCTGGGGGCGGAGTTTTGTGTCCCAGACTCGGGATACGAAGGAGAGGAAACTAGGATTTCCAAATTCTGGAGCAGGACTGAAGTTATTTGGGGCAGGGAGCTTGGATTCGCAAGATATGGAATTCTGAAGTGCGGAAATATACTCCTAGGGGCTGAGTGGTCCTAGGCTCCCGGGCTGGAGGTGGGACCTGTGCTCCTTGGGTTAAGGGTGAAACCTCAGCTCCTACAAGCTGGGAGGAGCCCTGAGTAACGTTGGTCTGGCTCTAGGTGAGCGGTTCCGAGGAGGAGCTTGGGTTTCTAGGGGCTGGGCCTTTAAAGACTGGTAATTAGGACCCAGCGTGAGGTTTCCATTGGCCGGCTGGGATTCTGGGAGAAGAGACCTATATTCTAACGACTGGGGCAGAGCCCTGGGTTCTGAGCTGGAGAAAATCGTGGGTTTGATACAGACTGTACTCGGGACCGGGAACCTAGGGTTTGGGTAGAGGTGAGGCCTGTCCCCTTTGGGCTGGGGGCAGAACATGGGCTCAGAGTTGGGGGACTAAGGGCGGAGCCTGGGTCCCCACAAGCGGTCCGAAGTCCCCAGTAGTTCAGAGGCCTTTGCGCTGCCGCTTGAGGAAAGACAGAGTGTAGTCACTAGGGGTGGACACTTTCTGCTTCTTCATCTGCACTTGCGACTGTGCCGTGAGTTGCAGCTTGATGGCGCTCGAGTTGATCTTGGTGGCCACCAGCAGCTCCTTCATGCCCTTCATCTTCTCACTCTGGAAAGTGAGCACTGGACCCTCCGGCGGTGGTGATGCTGTGGGTGCTGGCACCTGAGCCGTGCTGCCACCTTCAGGGCCTCGGGCTGTGCCAGCGACAGTCCCAGGAGGCTTCCGGGGGGGTCCTGACACTGCACCCTGGCCGGTGCCCAGGCCCTTGTCCAGTGCTGGCTTCTTGGGCGGCGGGGGCTCCTCTGGCTTGGACTCCCGCCGTGGGCCCCGCCGCCGGCCTTCCCGGGCTTCCTCGCCCCACGGCTCCTCGGCCTCGGCCGCCTCGGCCTCTCGGCTCACTATGCGCACCTTCTGCCGCACCTGGGCCAGTGGGGAGAGCAAGGTGAGAGCAAGGTTGCCGGCCAGTGGCTGGAACTCCAGGACCCTGCTCTGGCCATCCCATCCCACCCAGGGGGTCTCAGTCCCATCGGCACCCAAGGGGATGGGCAGATGCTGCCCCTGGGCCAGAAAAGTCTGACAAGCCCGTGGCTGCTGTCACCACCTGTAGTGCCCAGACCTCTGTGCAGCTGTCCCTCACCTGTCCCTCAAAACGGCCTAGGGACTGCACAAGAAAGGTGGCCCAGCCCACATGCAGCACAGGCGTGGGACTGCCCTCCTCCCATTTGCAGATGCCGTCGTAGAATCGCAGCAGGTGGGCGAAGCACTCAGGGTCCTGGAGGGCGGAACCTTGGCTCTGGGTGCCCTGGACGAGGGGGAAGGGAGGGCACAGATCAGTCTCTTACTCACCCCTTAGCAGAGGGCACAGGCCAGGCCCCCCACCTAGGCAAAGACCCCTGGCTCCAGAAAAGGTAAGCATAGGTTGGGAACATTCTTAGAACCTCTTTCCTTTTATAAAGCCAATCCATAGCCAGGACGTACCATCCCTACCTCCACCCCTCAGCTGAGGGAGGGAGTCTGGCCATGAAACTGAAGGCACAGGGTAGAAACCTCTAAAATACCTTCAGTCCCGTCCAACGTGGGCCCAGGACCTCAGTTATAGCAAAAGGGAACATAGCTGTCTGCTCAGGGCCACCTTCCTCCTGCCATCCCTAATCCCGTACATGCAGCCCCCATGGCCTGTGGAAGGGAGCCCTGTCCAGGTGGGAGGCTGGACACAGGCTGGAGCTCCAGCCTTTCACCTGGCTTTGCTCCCCCGGCCGCTCCTCGCCCGCCTCCAGCAAGCTGGCTGCCTCCTTCAGCAGGTTGGGGATGACATCATTGGCTACTTCAAAGAACTCCTTGTAGATCTCCTCGTCTTCCCGGCAGTAGTTGTAGCTGTGAGAGCAGTGGGGTCTCTGTAGGGTCTGAAGGGGTCTCACCATCGGGGGTAGCCCCAGGGACCTGGCGGGGGATGGAGCCCCCAGGGGCTGGGGGAGTAGGTGGGGTCCTCACTGCAAAATGATGCTGTCTGGGTCAGCCCAGAGGAAGAAAGCAAGAATGAGGAGGGGGGCATGGGGCCGAGGGTGGAAGTCCCACTGCTGGATGATGGTGGTTAAACATTGGAGATTTGAGACTGTTCTGAGAAAAAAAAAATTAGGAGGAGAGGGGAGGGAGGGAAAGATGTGACACCTTAATCAGGGTCCCTACCTCCTGGGTAATGGTGGCCTTGCTGCCTAGGGACTGGATGGAAAGGGGATGGGGCGTGGGAGCCAGGCCTCAGTCCTGGACGAGGGTGGTTGGAAACTGATGGAGGGGAAGAAAGGACAGGCTGCAGGCCCTAGTAGGGGGATCCTCACTCCTGGATGACAGTGGCCGTGTCCGCCCAGGCCTGCAGGGCTTCCCGCACATTGCGGTTGCGACAGTGGTAGCCAGCCAGGTACATGTAGGGGTAGATGTGTTCATCCCGATAGTAGGTCTTGGCTGAGGCAATGCCCTGGATGGAGGTGAGGCAGAGGATCCTCAGGGAGGCAGCCCCAGCTGCCCTGCTGGCACAAATGCCCCACCAGGGCACACCCAGAAGGGGCCACAGGAAGATCCCAGGGAGTCCTCTCCATCTCCACTCCCACCTCCACTCGCTGCCAGCCCTTCTACCTGGTCTCCTCCCTGGGTCTACAGGACTGCTGGCTGAGGCCTGGGGCAGACTGCAGGGGTGGGGCCTGCCCTCCGAGCTCAGGGCCCTTCTCTTTCTCAGACACTCTTCTACACATCACCAAAGACTTTCAAGCCCAGCCCAATGGCCCTCCTCCCCACCTACACCCACCAAGTGAACACCCCCTCTTCATCAGTGCTCCTGCCACATTTGACCTCTGTTATACTCCAGGAAGGACAGTAAGCAGTGGCAGAAAAGGCAGGGCTGAGGGGACAAATGCAGCCCCTGCCACTCCCAGGC | ACAGAGTGCCTCCCTCCGGGCCAGGCAGGTGCAGGTGACAGCACCTCCCGGGGCACGCCTCTCAGGGGTCTCGGAAACGTCAACCCTCCGCCCGCACCCCGCGCCCGCGGGCGCTCTGCCCTTCCTCTGGCGCAGAGGCCCGACCCGGGCCCTCACCTGGGTCTAGCTTGACTATCTTCACGGCGGCCAGTTCGGACGTGACCGTGTCGCGGGCCTGCAGGGGCGGAGGGTGAAGCGGGATGGGGGGCGGGGCCGGGGGCTAGATCCTGCCGCGGGGTGCGGGGCTGGCACCCTCCTCCCGGCTCTCCCGCCCGTCCCGTCGCACCTTGTAGACGTCGCCATAGGTCCCGGCCCCCACGCGCTGCAGCAGCTCGAAGCGGTCCCGCGGGTCCTGCAGCGACACATCCCGCAGCAGCGCCATGGCCCGGCGCCGGGCGGGCCGGCAGGCGGGCGGGCGCGAGCTGCGGAGCCGGCGCGGGGCGGCGCGGGGCGGGGCGGGCGCCCGTGGCTCTGAGGCCGCGGGGGCGGGGCTGAGGCCCGGGGGCGGGGCCGCGCCGGGGATGCCCCACCGCCAGTCCGGGAGGAGGCGCCCGCGGGACGGGCCCTCGGCGGCGCGGGGAAGCCCCAAGGCCGGGGCGGAGCCTACGTCCTTCCGCCGCCACTGTCGCTCGCGCTCCACAGGTAGGGAGCGCAAAGTCCCGGGAGCCAGAAGACAGAGGGAAGAGGGGGCGCTCCACTCCCCGCCCCATCCCCAATTTCCCAGATAAACATGGACTTGCGCTTTATATTTTTTTTAACAAAATGTATTCATCTTTCTTGGAACTGAAAAATAAATCTATGTACAAAACAGGAAGAGATCAGGCTCTTGTCACCCACTCCTAACCCTCTGCAGATTTCCTCCGGGATGCTCCGAGATGGGCTGGACCTCTGGGAGGTTCCCAGAGGGTCGGAAGGGAGGTCCTGCTCTGATCCGGGGCCAGTTTCGTCAGGAAGAGGGCGGGGCTCAGGATGCTCATAGGCTGGGGGCGGAGTTTTGTGTCCCAGACTCGGGATACGAAGGAGAGGAAACTAGGATTTCCAAATTCTGGAGCAGGACTGAAGTTATTTGGGGCAGGGAGCTTGGATTCGCAAGATATGGAATTCTGAAGTGCGGAAATATACTCCTAGGGGCTGAGTGGTCCTAGGCTCCCGGGCTGGAGGTGGGACCTGTGCTCCTTGGGTTAAGGGTGAAACCTCAGCTCCTACAAGCTGGGAGGAGCCCTGAGTAACGTTGGTCTGGCTCTAGGTGAGCGGTTCCGAGGAGGAGCTTGGGTTTCTAGGGGCTGGGCCTTTAAAGACTGGTAATTAGGACCCAGCGTGAGGTTTCCATTGGCCGGCTGGGATTCTGGGAGAAGAGACCTATATTCTAACGACTGGGGCAGAGCCCTGGGTTCTGAGCTGGAGAAAATCGTGGGTTTGATACAGACTGTACTCGGGACCGGGAACCTAGGGTTTGGGTAGAGGTGAGGCCTGTCCCCTTTGGGCTGGGGGCAGAACATGGGCTCAGAGTTGGGGGACTAAGGGCGGAGCCTGGGTCCCCACAAGCGGTCCGAAGTCCCCAGTAGTTCAGAGGCCTTTGCGCTGCCGCTTGAGGAAAGACAGAGTGTAGTCACTAGGGGTGGACACTTTCTGCTTCTTCATCTGCACTTGCGACTGTGCCGTGAGTTGCAGCTTGATGGCGCTCGAGTTGATCTTGGTGGCCACCAGCAGCTCCTTCATGCCCTTCATCTTCTCACTCTGGAAAGTGAGCACTGGACCCTCCGGCGGTGGTGATGCTGTGGGTGCTGGCACCTGAGCCGTGCTGCCACCTTCAGGGCCTCGGGCTGTGCCAGCGACAGTCCCAGGAGGCTTCCGGGGGGGTCCTGACACTGCACCCTGGCCGGTGCCCAGGCCCTTGTCCAGTGCTGGCTTCTTGGGCGGCGGGGGCTCCTCTGGCTTGGACTCCCGCCGTGGGCCCCGCCGCCGGCCTTCCCGGGCTTCCTCGCCCCACGGCTCCTCGGCCTCGGCCGCCTCGGCCTCTCGGCCTCTCGGCTCACTATGCGCACCTTCTGCCGCACCTGGGCCAGTGGGGAGAGCAAGGTGAGAGCAAGGTTGCCGGCCAGTGGCTGGAACTCCAGGACCCTGCTCTGGCCATCCCATCCCACCCAGGGGGTCTCAGTCCCATCGGCACCCAAGGGGATGGGCAGATGCTGCCCCTGGGCCAGAAAAGTCTGACAAGCCCGTGGCTGCTGTCACCACCTGTAGTGCCCAGACCTCTGTGCAGCTGTCCCTCACCTGTCCCTCAAAACGGCCTAGGGACTGCACAAGAAAGGTGGCCCAGCCCACATGCAGCACAGGCGTGGGACTGCCCTCCTCCCATTTGCAGATGCCGTCGTAGAATCGCAGCAGGTGGGCGAAGCACTCAGGGTCCTGGAGGGCGGAACCTTGGCTCTGGGTGCCCTGGACGAGGGGGAAGGGAGGGCACAGATCAGTCTCTTACTCACCCCTTAGCAGAGGGCACAGGCCAGGCCCCCCACCTAGGCAAAGACCCCTGGCTCCAGAAAAGGTAAGCATAGGTTGGGAACATTCTTAGAACCTCTTTCCTTTTATAAAGCCAATCCATAGCCAGGACGTACCATCCCTACCTCCACCCCTCAGCTGAGGGAGGGAGTCTGGCCATGAAACTGAAGGCACAGGGTAGAAACCTCTAAAATACCTTCAGTCCCGTCCAACGTGGGCCCAGGACCTCAGTTATAGCAAAAGGGAACATAGCTGTCTGCTCAGGGCCACCTTCCTCCTGCCATCCCTAATCCCGTACATGCAGCCCCCATGGCCTGTGGAAGGGAGCCCTGTCCAGGTGGGAGGCTGGACACAGGCTGGAGCTCCAGCCTTTCACCTGGCTTTGCTCCCCCGGCCGCTCCTCGCCCGCCTCCAGCAAGCTGGCTGCCTCCTTCAGCAGGTTGGGGATGACATCATTGGCTACTTCAAAGAACTCCTTGTAGATCTCCTCGTCTTCCCGGCAGTAGTTGTAGCTGTGAGAGCAGTGGGGTCTCTGTAGGGTCTGAAGGGGTCTCACCATCGGGGGTAGCCCCAGGGACCTGGCGGGGGATGGAGCCCCCAGGGGCTGGGGGAGTAGGTGGGGTCCTCACTGCAAAATGATGCTGTCTGGGTCAGCCCAGAGGAAGAAAGCAAGAATGAGGAGGGGGGCATGGGGCCGAGGGTGGAAGTCCCACTGCTGGATGATGGTGGTTAAACATTGGAGATTTGAGACTGTTCTGAGAAAAAAAAAATTAGGAGGAGAGGGGAGGGAGGGAAAGATGTGACACCTTAATCAGGGTCCCTACCTCCTGGGTAATGGTGGCCTTGCTGCCTAGGGACTGGATGGAAAGGGGATGGGGCGTGGGAGCCAGGCCTCAGTCCTGGACGAGGGTGGTTGGAAACTGATGGAGGGGAAGAAAGGACAGGCTGCAGGCCCTAGTAGGGGGATCCTCACTCCTGGATGACAGTGGCCGTGTCCGCCCAGGCCTGCAGGGCTTCCCGCACATTGCGGTTGCGACAGTGGTAGCCAGCCAGGTACATGTAGGGGTAGATGTGTTCATCCCGATAGTAGGTCTTGGCTGAGGCAATGCCCTGGATGGAGGTGAGGCAGAGGATCCTCAGGGAGGCAGCCCCAGCTGCCCTGCTGGCACAAATGCCCCACCAGGGCACACCCAGAAGGGGCCACAGGAAGATCCCAGGGAGTCCTCTCCATCTCCACTCCCACCTCCACTCGCTGCCAGCCCTTCTACCTGGTCTCCTCCCTGGGTCTACAGGACTGCTGGCTGAGGCCTGGGGCAGACTGCAGGGGTGGGGCCTGCCCTCCGAGCTCAGGGCCCTTCTCTTTCTCAGACACTCTTCTACACATCACCAAAGACTTTCAAGCCCAGCCCAATGGCCCTCCTCCCCACCTACACCCACCAAGTGAACACCCCCTCTTCATCAGTGCTCCTGCCACATTTGACCTCTGTTATACTCCAGGAAGGACAGTAAGCAGTGGCAGAAAAGGCAGGGCTGAGGGGACAAATGCAGCCCCTGCCAC | pathogenic | 177,643 |
Determine if the mutation at chromosome 11, position 64804807 in gene MEN1 (menin 1) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Multiple_endocrine_neoplasia,_type_1'] | GCAGGTGACAGCACCTCCCGGGGCACGCCTCTCAGGGGTCTCGGAAACGTCAACCCTCCGCCCGCACCCCGCGCCCGCGGGCGCTCTGCCCTTCCTCTGGCGCAGAGGCCCGACCCGGGCCCTCACCTGGGTCTAGCTTGACTATCTTCACGGCGGCCAGTTCGGACGTGACCGTGTCGCGGGCCTGCAGGGGCGGAGGGTGAAGCGGGATGGGGGGCGGGGCCGGGGGCTAGATCCTGCCGCGGGGTGCGGGGCTGGCACCCTCCTCCCGGCTCTCCCGCCCGTCCCGTCGCACCTTGTAGACGTCGCCATAGGTCCCGGCCCCCACGCGCTGCAGCAGCTCGAAGCGGTCCCGCGGGTCCTGCAGCGACACATCCCGCAGCAGCGCCATGGCCCGGCGCCGGGCGGGCCGGCAGGCGGGCGGGCGCGAGCTGCGGAGCCGGCGCGGGGCGGCGCGGGGCGGGGCGGGCGCCCGTGGCTCTGAGGCCGCGGGGGCGGGGCTGAGGCCCGGGGGCGGGGCCGCGCCGGGGATGCCCCACCGCCAGTCCGGGAGGAGGCGCCCGCGGGACGGGCCCTCGGCGGCGCGGGGAAGCCCCAAGGCCGGGGCGGAGCCTACGTCCTTCCGCCGCCACTGTCGCTCGCGCTCCACAGGTAGGGAGCGCAAAGTCCCGGGAGCCAGAAGACAGAGGGAAGAGGGGGCGCTCCACTCCCCGCCCCATCCCCAATTTCCCAGATAAACATGGACTTGCGCTTTATATTTTTTTTAACAAAATGTATTCATCTTTCTTGGAACTGAAAAATAAATCTATGTACAAAACAGGAAGAGATCAGGCTCTTGTCACCCACTCCTAACCCTCTGCAGATTTCCTCCGGGATGCTCCGAGATGGGCTGGACCTCTGGGAGGTTCCCAGAGGGTCGGAAGGGAGGTCCTGCTCTGATCCGGGGCCAGTTTCGTCAGGAAGAGGGCGGGGCTCAGGATGCTCATAGGCTGGGGGCGGAGTTTTGTGTCCCAGACTCGGGATACGAAGGAGAGGAAACTAGGATTTCCAAATTCTGGAGCAGGACTGAAGTTATTTGGGGCAGGGAGCTTGGATTCGCAAGATATGGAATTCTGAAGTGCGGAAATATACTCCTAGGGGCTGAGTGGTCCTAGGCTCCCGGGCTGGAGGTGGGACCTGTGCTCCTTGGGTTAAGGGTGAAACCTCAGCTCCTACAAGCTGGGAGGAGCCCTGAGTAACGTTGGTCTGGCTCTAGGTGAGCGGTTCCGAGGAGGAGCTTGGGTTTCTAGGGGCTGGGCCTTTAAAGACTGGTAATTAGGACCCAGCGTGAGGTTTCCATTGGCCGGCTGGGATTCTGGGAGAAGAGACCTATATTCTAACGACTGGGGCAGAGCCCTGGGTTCTGAGCTGGAGAAAATCGTGGGTTTGATACAGACTGTACTCGGGACCGGGAACCTAGGGTTTGGGTAGAGGTGAGGCCTGTCCCCTTTGGGCTGGGGGCAGAACATGGGCTCAGAGTTGGGGGACTAAGGGCGGAGCCTGGGTCCCCACAAGCGGTCCGAAGTCCCCAGTAGTTCAGAGGCCTTTGCGCTGCCGCTTGAGGAAAGACAGAGTGTAGTCACTAGGGGTGGACACTTTCTGCTTCTTCATCTGCACTTGCGACTGTGCCGTGAGTTGCAGCTTGATGGCGCTCGAGTTGATCTTGGTGGCCACCAGCAGCTCCTTCATGCCCTTCATCTTCTCACTCTGGAAAGTGAGCACTGGACCCTCCGGCGGTGGTGATGCTGTGGGTGCTGGCACCTGAGCCGTGCTGCCACCTTCAGGGCCTCGGGCTGTGCCAGCGACAGTCCCAGGAGGCTTCCGGGGGGGTCCTGACACTGCACCCTGGCCGGTGCCCAGGCCCTTGTCCAGTGCTGGCTTCTTGGGCGGCGGGGGCTCCTCTGGCTTGGACTCCCGCCGTGGGCCCCGCCGCCGGCCTTCCCGGGCTTCCTCGCCCCACGGCTCCTCGGCCTCGGCCGCCTCGGCCTCTCGGCTCACTATGCGCACCTTCTGCCGCACCTGGGCCAGTGGGGAGAGCAAGGTGAGAGCAAGGTTGCCGGCCAGTGGCTGGAACTCCAGGACCCTGCTCTGGCCATCCCATCCCACCCAGGGGGTCTCAGTCCCATCGGCACCCAAGGGGATGGGCAGATGCTGCCCCTGGGCCAGAAAAGTCTGACAAGCCCGTGGCTGCTGTCACCACCTGTAGTGCCCAGACCTCTGTGCAGCTGTCCCTCACCTGTCCCTCAAAACGGCCTAGGGACTGCACAAGAAAGGTGGCCCAGCCCACATGCAGCACAGGCGTGGGACTGCCCTCCTCCCATTTGCAGATGCCGTCGTAGAATCGCAGCAGGTGGGCGAAGCACTCAGGGTCCTGGAGGGCGGAACCTTGGCTCTGGGTGCCCTGGACGAGGGGGAAGGGAGGGCACAGATCAGTCTCTTACTCACCCCTTAGCAGAGGGCACAGGCCAGGCCCCCCACCTAGGCAAAGACCCCTGGCTCCAGAAAAGGTAAGCATAGGTTGGGAACATTCTTAGAACCTCTTTCCTTTTATAAAGCCAATCCATAGCCAGGACGTACCATCCCTACCTCCACCCCTCAGCTGAGGGAGGGAGTCTGGCCATGAAACTGAAGGCACAGGGTAGAAACCTCTAAAATACCTTCAGTCCCGTCCAACGTGGGCCCAGGACCTCAGTTATAGCAAAAGGGAACATAGCTGTCTGCTCAGGGCCACCTTCCTCCTGCCATCCCTAATCCCGTACATGCAGCCCCCATGGCCTGTGGAAGGGAGCCCTGTCCAGGTGGGAGGCTGGACACAGGCTGGAGCTCCAGCCTTTCACCTGGCTTTGCTCCCCCGGCCGCTCCTCGCCCGCCTCCAGCAAGCTGGCTGCCTCCTTCAGCAGGTTGGGGATGACATCATTGGCTACTTCAAAGAACTCCTTGTAGATCTCCTCGTCTTCCCGGCAGTAGTTGTAGCTGTGAGAGCAGTGGGGTCTCTGTAGGGTCTGAAGGGGTCTCACCATCGGGGGTAGCCCCAGGGACCTGGCGGGGGATGGAGCCCCCAGGGGCTGGGGGAGTAGGTGGGGTCCTCACTGCAAAATGATGCTGTCTGGGTCAGCCCAGAGGAAGAAAGCAAGAATGAGGAGGGGGGCATGGGGCCGAGGGTGGAAGTCCCACTGCTGGATGATGGTGGTTAAACATTGGAGATTTGAGACTGTTCTGAGAAAAAAAAAATTAGGAGGAGAGGGGAGGGAGGGAAAGATGTGACACCTTAATCAGGGTCCCTACCTCCTGGGTAATGGTGGCCTTGCTGCCTAGGGACTGGATGGAAAGGGGATGGGGCGTGGGAGCCAGGCCTCAGTCCTGGACGAGGGTGGTTGGAAACTGATGGAGGGGAAGAAAGGACAGGCTGCAGGCCCTAGTAGGGGGATCCTCACTCCTGGATGACAGTGGCCGTGTCCGCCCAGGCCTGCAGGGCTTCCCGCACATTGCGGTTGCGACAGTGGTAGCCAGCCAGGTACATGTAGGGGTAGATGTGTTCATCCCGATAGTAGGTCTTGGCTGAGGCAATGCCCTGGATGGAGGTGAGGCAGAGGATCCTCAGGGAGGCAGCCCCAGCTGCCCTGCTGGCACAAATGCCCCACCAGGGCACACCCAGAAGGGGCCACAGGAAGATCCCAGGGAGTCCTCTCCATCTCCACTCCCACCTCCACTCGCTGCCAGCCCTTCTACCTGGTCTCCTCCCTGGGTCTACAGGACTGCTGGCTGAGGCCTGGGGCAGACTGCAGGGGTGGGGCCTGCCCTCCGAGCTCAGGGCCCTTCTCTTTCTCAGACACTCTTCTACACATCACCAAAGACTTTCAAGCCCAGCCCAATGGCCCTCCTCCCCACCTACACCCACCAAGTGAACACCCCCTCTTCATCAGTGCTCCTGCCACATTTGACCTCTGTTATACTCCAGGAAGGACAGTAAGCAGTGGCAGAAAAGGCAGGGCTGAGGGGACAAATGCAGCCCCTGCCACTCCCAGGCTGGGGAACCCTGGACACCCCTCAGACAGCC | GCAGGTGACAGCACCTCCCGGGGCACGCCTCTCAGGGGTCTCGGAAACGTCAACCCTCCGCCCGCACCCCGCGCCCGCGGGCGCTCTGCCCTTCCTCTGGCGCAGAGGCCCGACCCGGGCCCTCACCTGGGTCTAGCTTGACTATCTTCACGGCGGCCAGTTCGGACGTGACCGTGTCGCGGGCCTGCAGGGGCGGAGGGTGAAGCGGGATGGGGGGCGGGGCCGGGGGCTAGATCCTGCCGCGGGGTGCGGGGCTGGCACCCTCCTCCCGGCTCTCCCGCCCGTCCCGTCGCACCTTGTAGACGTCGCCATAGGTCCCGGCCCCCACGCGCTGCAGCAGCTCGAAGCGGTCCCGCGGGTCCTGCAGCGACACATCCCGCAGCAGCGCCATGGCCCGGCGCCGGGCGGGCCGGCAGGCGGGCGGGCGCGAGCTGCGGAGCCGGCGCGGGGCGGCGCGGGGCGGGGCGGGCGCCCGTGGCTCTGAGGCCGCGGGGGCGGGGCTGAGGCCCGGGGGCGGGGCCGCGCCGGGGATGCCCCACCGCCAGTCCGGGAGGAGGCGCCCGCGGGACGGGCCCTCGGCGGCGCGGGGAAGCCCCAAGGCCGGGGCGGAGCCTACGTCCTTCCGCCGCCACTGTCGCTCGCGCTCCACAGGTAGGGAGCGCAAAGTCCCGGGAGCCAGAAGACAGAGGGAAGAGGGGGCGCTCCACTCCCCGCCCCATCCCCAATTTCCCAGATAAACATGGACTTGCGCTTTATATTTTTTTTAACAAAATGTATTCATCTTTCTTGGAACTGAAAAATAAATCTATGTACAAAACAGGAAGAGATCAGGCTCTTGTCACCCACTCCTAACCCTCTGCAGATTTCCTCCGGGATGCTCCGAGATGGGCTGGACCTCTGGGAGGTTCCCAGAGGGTCGGAAGGGAGGTCCTGCTCTGATCCGGGGCCAGTTTCGTCAGGAAGAGGGCGGGGCTCAGGATGCTCATAGGCTGGGGGCGGAGTTTTGTGTCCCAGACTCGGGATACGAAGGAGAGGAAACTAGGATTTCCAAATTCTGGAGCAGGACTGAAGTTATTTGGGGCAGGGAGCTTGGATTCGCAAGATATGGAATTCTGAAGTGCGGAAATATACTCCTAGGGGCTGAGTGGTCCTAGGCTCCCGGGCTGGAGGTGGGACCTGTGCTCCTTGGGTTAAGGGTGAAACCTCAGCTCCTACAAGCTGGGAGGAGCCCTGAGTAACGTTGGTCTGGCTCTAGGTGAGCGGTTCCGAGGAGGAGCTTGGGTTTCTAGGGGCTGGGCCTTTAAAGACTGGTAATTAGGACCCAGCGTGAGGTTTCCATTGGCCGGCTGGGATTCTGGGAGAAGAGACCTATATTCTAACGACTGGGGCAGAGCCCTGGGTTCTGAGCTGGAGAAAATCGTGGGTTTGATACAGACTGTACTCGGGACCGGGAACCTAGGGTTTGGGTAGAGGTGAGGCCTGTCCCCTTTGGGCTGGGGGCAGAACATGGGCTCAGAGTTGGGGGACTAAGGGCGGAGCCTGGGTCCCCACAAGCGGTCCGAAGTCCCCAGTAGTTCAGAGGCCTTTGCGCTGCCGCTTGAGGAAAGACAGAGTGTAGTCACTAGGGGTGGACACTTTCTGCTTCTTCATCTGCACTTGCGACTGTGCCGTGAGTTGCAGCTTGATGGCGCTCGAGTTGATCTTGGTGGCCACCAGCAGCTCCTTCATGCCCTTCATCTTCTCACTCTGGAAAGTGAGCACTGGACCCTCCGGCGGTGGTGATGCTGTGGGTGCTGGCACCTGAGCCGTGCTGCCACCTTCAGGGCCTCGGGCTGTGCCAGCGACAGTCCCAGGAGGCTTCCGGGGGGGTCCTGACACTGCACCCTGGCCGGTGCCCAGGCCCTTGTCCAGTGCTGGCTTCTTGGGCGGCGGGGGCTCCTCTGGCTTGGACTCCCGCCGTGGGCCCCGCCGCCGGCCTTCCCGGGCTTCCTCGCCCCACGGCTCCTCGGCCTCGGCCGCCTCGGCCTCTCGGCTCACTATGCGCACCTTGGCCAGTGGGGAGAGCAAGGTGAGAGCAAGGTTGCCGGCCAGTGGCTGGAACTCCAGGACCCTGCTCTGGCCATCCCATCCCACCCAGGGGGTCTCAGTCCCATCGGCACCCAAGGGGATGGGCAGATGCTGCCCCTGGGCCAGAAAAGTCTGACAAGCCCGTGGCTGCTGTCACCACCTGTAGTGCCCAGACCTCTGTGCAGCTGTCCCTCACCTGTCCCTCAAAACGGCCTAGGGACTGCACAAGAAAGGTGGCCCAGCCCACATGCAGCACAGGCGTGGGACTGCCCTCCTCCCATTTGCAGATGCCGTCGTAGAATCGCAGCAGGTGGGCGAAGCACTCAGGGTCCTGGAGGGCGGAACCTTGGCTCTGGGTGCCCTGGACGAGGGGGAAGGGAGGGCACAGATCAGTCTCTTACTCACCCCTTAGCAGAGGGCACAGGCCAGGCCCCCCACCTAGGCAAAGACCCCTGGCTCCAGAAAAGGTAAGCATAGGTTGGGAACATTCTTAGAACCTCTTTCCTTTTATAAAGCCAATCCATAGCCAGGACGTACCATCCCTACCTCCACCCCTCAGCTGAGGGAGGGAGTCTGGCCATGAAACTGAAGGCACAGGGTAGAAACCTCTAAAATACCTTCAGTCCCGTCCAACGTGGGCCCAGGACCTCAGTTATAGCAAAAGGGAACATAGCTGTCTGCTCAGGGCCACCTTCCTCCTGCCATCCCTAATCCCGTACATGCAGCCCCCATGGCCTGTGGAAGGGAGCCCTGTCCAGGTGGGAGGCTGGACACAGGCTGGAGCTCCAGCCTTTCACCTGGCTTTGCTCCCCCGGCCGCTCCTCGCCCGCCTCCAGCAAGCTGGCTGCCTCCTTCAGCAGGTTGGGGATGACATCATTGGCTACTTCAAAGAACTCCTTGTAGATCTCCTCGTCTTCCCGGCAGTAGTTGTAGCTGTGAGAGCAGTGGGGTCTCTGTAGGGTCTGAAGGGGTCTCACCATCGGGGGTAGCCCCAGGGACCTGGCGGGGGATGGAGCCCCCAGGGGCTGGGGGAGTAGGTGGGGTCCTCACTGCAAAATGATGCTGTCTGGGTCAGCCCAGAGGAAGAAAGCAAGAATGAGGAGGGGGGCATGGGGCCGAGGGTGGAAGTCCCACTGCTGGATGATGGTGGTTAAACATTGGAGATTTGAGACTGTTCTGAGAAAAAAAAAATTAGGAGGAGAGGGGAGGGAGGGAAAGATGTGACACCTTAATCAGGGTCCCTACCTCCTGGGTAATGGTGGCCTTGCTGCCTAGGGACTGGATGGAAAGGGGATGGGGCGTGGGAGCCAGGCCTCAGTCCTGGACGAGGGTGGTTGGAAACTGATGGAGGGGAAGAAAGGACAGGCTGCAGGCCCTAGTAGGGGGATCCTCACTCCTGGATGACAGTGGCCGTGTCCGCCCAGGCCTGCAGGGCTTCCCGCACATTGCGGTTGCGACAGTGGTAGCCAGCCAGGTACATGTAGGGGTAGATGTGTTCATCCCGATAGTAGGTCTTGGCTGAGGCAATGCCCTGGATGGAGGTGAGGCAGAGGATCCTCAGGGAGGCAGCCCCAGCTGCCCTGCTGGCACAAATGCCCCACCAGGGCACACCCAGAAGGGGCCACAGGAAGATCCCAGGGAGTCCTCTCCATCTCCACTCCCACCTCCACTCGCTGCCAGCCCTTCTACCTGGTCTCCTCCCTGGGTCTACAGGACTGCTGGCTGAGGCCTGGGGCAGACTGCAGGGGTGGGGCCTGCCCTCCGAGCTCAGGGCCCTTCTCTTTCTCAGACACTCTTCTACACATCACCAAAGACTTTCAAGCCCAGCCCAATGGCCCTCCTCCCCACCTACACCCACCAAGTGAACACCCCCTCTTCATCAGTGCTCCTGCCACATTTGACCTCTGTTATACTCCAGGAAGGACAGTAAGCAGTGGCAGAAAAGGCAGGGCTGAGGGGACAAATGCAGCCCCTGCCACTCCCAGGCTGGGGAACCCTGGACACCCCTCAGACAGCCNNNNNNNNNNNN | pathogenic | 177,656 |
Evaluate the clinical significance of the mutation at chromosome 11, position 64804829 in gene MEN1 (menin 1): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | benign | GCACGCCTCTCAGGGGTCTCGGAAACGTCAACCCTCCGCCCGCACCCCGCGCCCGCGGGCGCTCTGCCCTTCCTCTGGCGCAGAGGCCCGACCCGGGCCCTCACCTGGGTCTAGCTTGACTATCTTCACGGCGGCCAGTTCGGACGTGACCGTGTCGCGGGCCTGCAGGGGCGGAGGGTGAAGCGGGATGGGGGGCGGGGCCGGGGGCTAGATCCTGCCGCGGGGTGCGGGGCTGGCACCCTCCTCCCGGCTCTCCCGCCCGTCCCGTCGCACCTTGTAGACGTCGCCATAGGTCCCGGCCCCCACGCGCTGCAGCAGCTCGAAGCGGTCCCGCGGGTCCTGCAGCGACACATCCCGCAGCAGCGCCATGGCCCGGCGCCGGGCGGGCCGGCAGGCGGGCGGGCGCGAGCTGCGGAGCCGGCGCGGGGCGGCGCGGGGCGGGGCGGGCGCCCGTGGCTCTGAGGCCGCGGGGGCGGGGCTGAGGCCCGGGGGCGGGGCCGCGCCGGGGATGCCCCACCGCCAGTCCGGGAGGAGGCGCCCGCGGGACGGGCCCTCGGCGGCGCGGGGAAGCCCCAAGGCCGGGGCGGAGCCTACGTCCTTCCGCCGCCACTGTCGCTCGCGCTCCACAGGTAGGGAGCGCAAAGTCCCGGGAGCCAGAAGACAGAGGGAAGAGGGGGCGCTCCACTCCCCGCCCCATCCCCAATTTCCCAGATAAACATGGACTTGCGCTTTATATTTTTTTTAACAAAATGTATTCATCTTTCTTGGAACTGAAAAATAAATCTATGTACAAAACAGGAAGAGATCAGGCTCTTGTCACCCACTCCTAACCCTCTGCAGATTTCCTCCGGGATGCTCCGAGATGGGCTGGACCTCTGGGAGGTTCCCAGAGGGTCGGAAGGGAGGTCCTGCTCTGATCCGGGGCCAGTTTCGTCAGGAAGAGGGCGGGGCTCAGGATGCTCATAGGCTGGGGGCGGAGTTTTGTGTCCCAGACTCGGGATACGAAGGAGAGGAAACTAGGATTTCCAAATTCTGGAGCAGGACTGAAGTTATTTGGGGCAGGGAGCTTGGATTCGCAAGATATGGAATTCTGAAGTGCGGAAATATACTCCTAGGGGCTGAGTGGTCCTAGGCTCCCGGGCTGGAGGTGGGACCTGTGCTCCTTGGGTTAAGGGTGAAACCTCAGCTCCTACAAGCTGGGAGGAGCCCTGAGTAACGTTGGTCTGGCTCTAGGTGAGCGGTTCCGAGGAGGAGCTTGGGTTTCTAGGGGCTGGGCCTTTAAAGACTGGTAATTAGGACCCAGCGTGAGGTTTCCATTGGCCGGCTGGGATTCTGGGAGAAGAGACCTATATTCTAACGACTGGGGCAGAGCCCTGGGTTCTGAGCTGGAGAAAATCGTGGGTTTGATACAGACTGTACTCGGGACCGGGAACCTAGGGTTTGGGTAGAGGTGAGGCCTGTCCCCTTTGGGCTGGGGGCAGAACATGGGCTCAGAGTTGGGGGACTAAGGGCGGAGCCTGGGTCCCCACAAGCGGTCCGAAGTCCCCAGTAGTTCAGAGGCCTTTGCGCTGCCGCTTGAGGAAAGACAGAGTGTAGTCACTAGGGGTGGACACTTTCTGCTTCTTCATCTGCACTTGCGACTGTGCCGTGAGTTGCAGCTTGATGGCGCTCGAGTTGATCTTGGTGGCCACCAGCAGCTCCTTCATGCCCTTCATCTTCTCACTCTGGAAAGTGAGCACTGGACCCTCCGGCGGTGGTGATGCTGTGGGTGCTGGCACCTGAGCCGTGCTGCCACCTTCAGGGCCTCGGGCTGTGCCAGCGACAGTCCCAGGAGGCTTCCGGGGGGGTCCTGACACTGCACCCTGGCCGGTGCCCAGGCCCTTGTCCAGTGCTGGCTTCTTGGGCGGCGGGGGCTCCTCTGGCTTGGACTCCCGCCGTGGGCCCCGCCGCCGGCCTTCCCGGGCTTCCTCGCCCCACGGCTCCTCGGCCTCGGCCGCCTCGGCCTCTCGGCTCACTATGCGCACCTTCTGCCGCACCTGGGCCAGTGGGGAGAGCAAGGTGAGAGCAAGGTTGCCGGCCAGTGGCTGGAACTCCAGGACCCTGCTCTGGCCATCCCATCCCACCCAGGGGGTCTCAGTCCCATCGGCACCCAAGGGGATGGGCAGATGCTGCCCCTGGGCCAGAAAAGTCTGACAAGCCCGTGGCTGCTGTCACCACCTGTAGTGCCCAGACCTCTGTGCAGCTGTCCCTCACCTGTCCCTCAAAACGGCCTAGGGACTGCACAAGAAAGGTGGCCCAGCCCACATGCAGCACAGGCGTGGGACTGCCCTCCTCCCATTTGCAGATGCCGTCGTAGAATCGCAGCAGGTGGGCGAAGCACTCAGGGTCCTGGAGGGCGGAACCTTGGCTCTGGGTGCCCTGGACGAGGGGGAAGGGAGGGCACAGATCAGTCTCTTACTCACCCCTTAGCAGAGGGCACAGGCCAGGCCCCCCACCTAGGCAAAGACCCCTGGCTCCAGAAAAGGTAAGCATAGGTTGGGAACATTCTTAGAACCTCTTTCCTTTTATAAAGCCAATCCATAGCCAGGACGTACCATCCCTACCTCCACCCCTCAGCTGAGGGAGGGAGTCTGGCCATGAAACTGAAGGCACAGGGTAGAAACCTCTAAAATACCTTCAGTCCCGTCCAACGTGGGCCCAGGACCTCAGTTATAGCAAAAGGGAACATAGCTGTCTGCTCAGGGCCACCTTCCTCCTGCCATCCCTAATCCCGTACATGCAGCCCCCATGGCCTGTGGAAGGGAGCCCTGTCCAGGTGGGAGGCTGGACACAGGCTGGAGCTCCAGCCTTTCACCTGGCTTTGCTCCCCCGGCCGCTCCTCGCCCGCCTCCAGCAAGCTGGCTGCCTCCTTCAGCAGGTTGGGGATGACATCATTGGCTACTTCAAAGAACTCCTTGTAGATCTCCTCGTCTTCCCGGCAGTAGTTGTAGCTGTGAGAGCAGTGGGGTCTCTGTAGGGTCTGAAGGGGTCTCACCATCGGGGGTAGCCCCAGGGACCTGGCGGGGGATGGAGCCCCCAGGGGCTGGGGGAGTAGGTGGGGTCCTCACTGCAAAATGATGCTGTCTGGGTCAGCCCAGAGGAAGAAAGCAAGAATGAGGAGGGGGGCATGGGGCCGAGGGTGGAAGTCCCACTGCTGGATGATGGTGGTTAAACATTGGAGATTTGAGACTGTTCTGAGAAAAAAAAAATTAGGAGGAGAGGGGAGGGAGGGAAAGATGTGACACCTTAATCAGGGTCCCTACCTCCTGGGTAATGGTGGCCTTGCTGCCTAGGGACTGGATGGAAAGGGGATGGGGCGTGGGAGCCAGGCCTCAGTCCTGGACGAGGGTGGTTGGAAACTGATGGAGGGGAAGAAAGGACAGGCTGCAGGCCCTAGTAGGGGGATCCTCACTCCTGGATGACAGTGGCCGTGTCCGCCCAGGCCTGCAGGGCTTCCCGCACATTGCGGTTGCGACAGTGGTAGCCAGCCAGGTACATGTAGGGGTAGATGTGTTCATCCCGATAGTAGGTCTTGGCTGAGGCAATGCCCTGGATGGAGGTGAGGCAGAGGATCCTCAGGGAGGCAGCCCCAGCTGCCCTGCTGGCACAAATGCCCCACCAGGGCACACCCAGAAGGGGCCACAGGAAGATCCCAGGGAGTCCTCTCCATCTCCACTCCCACCTCCACTCGCTGCCAGCCCTTCTACCTGGTCTCCTCCCTGGGTCTACAGGACTGCTGGCTGAGGCCTGGGGCAGACTGCAGGGGTGGGGCCTGCCCTCCGAGCTCAGGGCCCTTCTCTTTCTCAGACACTCTTCTACACATCACCAAAGACTTTCAAGCCCAGCCCAATGGCCCTCCTCCCCACCTACACCCACCAAGTGAACACCCCCTCTTCATCAGTGCTCCTGCCACATTTGACCTCTGTTATACTCCAGGAAGGACAGTAAGCAGTGGCAGAAAAGGCAGGGCTGAGGGGACAAATGCAGCCCCTGCCACTCCCAGGCTGGGGAACCCTGGACACCCCTCAGACAGCCCTGACTGAACTGATTCTGCACA | GCACGCCTCTCAGGGGTCTCGGAAACGTCAACCCTCCGCCCGCACCCCGCGCCCGCGGGCGCTCTGCCCTTCCTCTGGCGCAGAGGCCCGACCCGGGCCCTCACCTGGGTCTAGCTTGACTATCTTCACGGCGGCCAGTTCGGACGTGACCGTGTCGCGGGCCTGCAGGGGCGGAGGGTGAAGCGGGATGGGGGGCGGGGCCGGGGGCTAGATCCTGCCGCGGGGTGCGGGGCTGGCACCCTCCTCCCGGCTCTCCCGCCCGTCCCGTCGCACCTTGTAGACGTCGCCATAGGTCCCGGCCCCCACGCGCTGCAGCAGCTCGAAGCGGTCCCGCGGGTCCTGCAGCGACACATCCCGCAGCAGCGCCATGGCCCGGCGCCGGGCGGGCCGGCAGGCGGGCGGGCGCGAGCTGCGGAGCCGGCGCGGGGCGGCGCGGGGCGGGGCGGGCGCCCGTGGCTCTGAGGCCGCGGGGGCGGGGCTGAGGCCCGGGGGCGGGGCCGCGCCGGGGATGCCCCACCGCCAGTCCGGGAGGAGGCGCCCGCGGGACGGGCCCTCGGCGGCGCGGGGAAGCCCCAAGGCCGGGGCGGAGCCTACGTCCTTCCGCCGCCACTGTCGCTCGCGCTCCACAGGTAGGGAGCGCAAAGTCCCGGGAGCCAGAAGACAGAGGGAAGAGGGGGCGCTCCACTCCCCGCCCCATCCCCAATTTCCCAGATAAACATGGACTTGCGCTTTATATTTTTTTTAACAAAATGTATTCATCTTTCTTGGAACTGAAAAATAAATCTATGTACAAAACAGGAAGAGATCAGGCTCTTGTCACCCACTCCTAACCCTCTGCAGATTTCCTCCGGGATGCTCCGAGATGGGCTGGACCTCTGGGAGGTTCCCAGAGGGTCGGAAGGGAGGTCCTGCTCTGATCCGGGGCCAGTTTCGTCAGGAAGAGGGCGGGGCTCAGGATGCTCATAGGCTGGGGGCGGAGTTTTGTGTCCCAGACTCGGGATACGAAGGAGAGGAAACTAGGATTTCCAAATTCTGGAGCAGGACTGAAGTTATTTGGGGCAGGGAGCTTGGATTCGCAAGATATGGAATTCTGAAGTGCGGAAATATACTCCTAGGGGCTGAGTGGTCCTAGGCTCCCGGGCTGGAGGTGGGACCTGTGCTCCTTGGGTTAAGGGTGAAACCTCAGCTCCTACAAGCTGGGAGGAGCCCTGAGTAACGTTGGTCTGGCTCTAGGTGAGCGGTTCCGAGGAGGAGCTTGGGTTTCTAGGGGCTGGGCCTTTAAAGACTGGTAATTAGGACCCAGCGTGAGGTTTCCATTGGCCGGCTGGGATTCTGGGAGAAGAGACCTATATTCTAACGACTGGGGCAGAGCCCTGGGTTCTGAGCTGGAGAAAATCGTGGGTTTGATACAGACTGTACTCGGGACCGGGAACCTAGGGTTTGGGTAGAGGTGAGGCCTGTCCCCTTTGGGCTGGGGGCAGAACATGGGCTCAGAGTTGGGGGACTAAGGGCGGAGCCTGGGTCCCCACAAGCGGTCCGAAGTCCCCAGTAGTTCAGAGGCCTTTGCGCTGCCGCTTGAGGAAAGACAGAGTGTAGTCACTAGGGGTGGACACTTTCTGCTTCTTCATCTGCACTTGCGACTGTGCCGTGAGTTGCAGCTTGATGGCGCTCGAGTTGATCTTGGTGGCCACCAGCAGCTCCTTCATGCCCTTCATCTTCTCACTCTGGAAAGTGAGCACTGGACCCTCCGGCGGTGGTGATGCTGTGGGTGCTGGCACCTGAGCCGTGCTGCCACCTTCAGGGCCTCGGGCTGTGCCAGCGACAGTCCCAGGAGGCTTCCGGGGGGGTCCTGACACTGCACCCTGGCCGGTGCCCAGGCCCTTGTCCAGTGCTGGCTTCTTGGGCGGCGGGGGCTCCTCTGGCTTGGACTCCCGCCGTGGGCCCCGCCGCCGGCCTTCCCGGGCTTCCTCGCCCCACGGCTCCTCGGCCTCGGCCGCCTCGGCCTCTCGGCTCACTATGCGCACCTTCTGCCGCACCTGGGCCAGTGGGGAGAGCAAGGTGAGAGCAAGGTGAGAGCAAGGTTGCCGGCCAGTGGCTGGAACTCCAGGACCCTGCTCTGGCCATCCCATCCCACCCAGGGGGTCTCAGTCCCATCGGCACCCAAGGGGATGGGCAGATGCTGCCCCTGGGCCAGAAAAGTCTGACAAGCCCGTGGCTGCTGTCACCACCTGTAGTGCCCAGACCTCTGTGCAGCTGTCCCTCACCTGTCCCTCAAAACGGCCTAGGGACTGCACAAGAAAGGTGGCCCAGCCCACATGCAGCACAGGCGTGGGACTGCCCTCCTCCCATTTGCAGATGCCGTCGTAGAATCGCAGCAGGTGGGCGAAGCACTCAGGGTCCTGGAGGGCGGAACCTTGGCTCTGGGTGCCCTGGACGAGGGGGAAGGGAGGGCACAGATCAGTCTCTTACTCACCCCTTAGCAGAGGGCACAGGCCAGGCCCCCCACCTAGGCAAAGACCCCTGGCTCCAGAAAAGGTAAGCATAGGTTGGGAACATTCTTAGAACCTCTTTCCTTTTATAAAGCCAATCCATAGCCAGGACGTACCATCCCTACCTCCACCCCTCAGCTGAGGGAGGGAGTCTGGCCATGAAACTGAAGGCACAGGGTAGAAACCTCTAAAATACCTTCAGTCCCGTCCAACGTGGGCCCAGGACCTCAGTTATAGCAAAAGGGAACATAGCTGTCTGCTCAGGGCCACCTTCCTCCTGCCATCCCTAATCCCGTACATGCAGCCCCCATGGCCTGTGGAAGGGAGCCCTGTCCAGGTGGGAGGCTGGACACAGGCTGGAGCTCCAGCCTTTCACCTGGCTTTGCTCCCCCGGCCGCTCCTCGCCCGCCTCCAGCAAGCTGGCTGCCTCCTTCAGCAGGTTGGGGATGACATCATTGGCTACTTCAAAGAACTCCTTGTAGATCTCCTCGTCTTCCCGGCAGTAGTTGTAGCTGTGAGAGCAGTGGGGTCTCTGTAGGGTCTGAAGGGGTCTCACCATCGGGGGTAGCCCCAGGGACCTGGCGGGGGATGGAGCCCCCAGGGGCTGGGGGAGTAGGTGGGGTCCTCACTGCAAAATGATGCTGTCTGGGTCAGCCCAGAGGAAGAAAGCAAGAATGAGGAGGGGGGCATGGGGCCGAGGGTGGAAGTCCCACTGCTGGATGATGGTGGTTAAACATTGGAGATTTGAGACTGTTCTGAGAAAAAAAAAATTAGGAGGAGAGGGGAGGGAGGGAAAGATGTGACACCTTAATCAGGGTCCCTACCTCCTGGGTAATGGTGGCCTTGCTGCCTAGGGACTGGATGGAAAGGGGATGGGGCGTGGGAGCCAGGCCTCAGTCCTGGACGAGGGTGGTTGGAAACTGATGGAGGGGAAGAAAGGACAGGCTGCAGGCCCTAGTAGGGGGATCCTCACTCCTGGATGACAGTGGCCGTGTCCGCCCAGGCCTGCAGGGCTTCCCGCACATTGCGGTTGCGACAGTGGTAGCCAGCCAGGTACATGTAGGGGTAGATGTGTTCATCCCGATAGTAGGTCTTGGCTGAGGCAATGCCCTGGATGGAGGTGAGGCAGAGGATCCTCAGGGAGGCAGCCCCAGCTGCCCTGCTGGCACAAATGCCCCACCAGGGCACACCCAGAAGGGGCCACAGGAAGATCCCAGGGAGTCCTCTCCATCTCCACTCCCACCTCCACTCGCTGCCAGCCCTTCTACCTGGTCTCCTCCCTGGGTCTACAGGACTGCTGGCTGAGGCCTGGGGCAGACTGCAGGGGTGGGGCCTGCCCTCCGAGCTCAGGGCCCTTCTCTTTCTCAGACACTCTTCTACACATCACCAAAGACTTTCAAGCCCAGCCCAATGGCCCTCCTCCCCACCTACACCCACCAAGTGAACACCCCCTCTTCATCAGTGCTCCTGCCACATTTGACCTCTGTTATACTCCAGGAAGGACAGTAAGCAGTGGCAGAAAAGGCAGGGCTGAGGGGACAAATGCAGCCCCTGCCACTCCCAGGCTGGGGAACCCTGGACACCCCTCAGACAGCCCTGACTGAACT | benign | 177,665 |
Does the chromosome 11 mutation at position 64804829 within gene MEN1 (menin 1) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | benign | GCACGCCTCTCAGGGGTCTCGGAAACGTCAACCCTCCGCCCGCACCCCGCGCCCGCGGGCGCTCTGCCCTTCCTCTGGCGCAGAGGCCCGACCCGGGCCCTCACCTGGGTCTAGCTTGACTATCTTCACGGCGGCCAGTTCGGACGTGACCGTGTCGCGGGCCTGCAGGGGCGGAGGGTGAAGCGGGATGGGGGGCGGGGCCGGGGGCTAGATCCTGCCGCGGGGTGCGGGGCTGGCACCCTCCTCCCGGCTCTCCCGCCCGTCCCGTCGCACCTTGTAGACGTCGCCATAGGTCCCGGCCCCCACGCGCTGCAGCAGCTCGAAGCGGTCCCGCGGGTCCTGCAGCGACACATCCCGCAGCAGCGCCATGGCCCGGCGCCGGGCGGGCCGGCAGGCGGGCGGGCGCGAGCTGCGGAGCCGGCGCGGGGCGGCGCGGGGCGGGGCGGGCGCCCGTGGCTCTGAGGCCGCGGGGGCGGGGCTGAGGCCCGGGGGCGGGGCCGCGCCGGGGATGCCCCACCGCCAGTCCGGGAGGAGGCGCCCGCGGGACGGGCCCTCGGCGGCGCGGGGAAGCCCCAAGGCCGGGGCGGAGCCTACGTCCTTCCGCCGCCACTGTCGCTCGCGCTCCACAGGTAGGGAGCGCAAAGTCCCGGGAGCCAGAAGACAGAGGGAAGAGGGGGCGCTCCACTCCCCGCCCCATCCCCAATTTCCCAGATAAACATGGACTTGCGCTTTATATTTTTTTTAACAAAATGTATTCATCTTTCTTGGAACTGAAAAATAAATCTATGTACAAAACAGGAAGAGATCAGGCTCTTGTCACCCACTCCTAACCCTCTGCAGATTTCCTCCGGGATGCTCCGAGATGGGCTGGACCTCTGGGAGGTTCCCAGAGGGTCGGAAGGGAGGTCCTGCTCTGATCCGGGGCCAGTTTCGTCAGGAAGAGGGCGGGGCTCAGGATGCTCATAGGCTGGGGGCGGAGTTTTGTGTCCCAGACTCGGGATACGAAGGAGAGGAAACTAGGATTTCCAAATTCTGGAGCAGGACTGAAGTTATTTGGGGCAGGGAGCTTGGATTCGCAAGATATGGAATTCTGAAGTGCGGAAATATACTCCTAGGGGCTGAGTGGTCCTAGGCTCCCGGGCTGGAGGTGGGACCTGTGCTCCTTGGGTTAAGGGTGAAACCTCAGCTCCTACAAGCTGGGAGGAGCCCTGAGTAACGTTGGTCTGGCTCTAGGTGAGCGGTTCCGAGGAGGAGCTTGGGTTTCTAGGGGCTGGGCCTTTAAAGACTGGTAATTAGGACCCAGCGTGAGGTTTCCATTGGCCGGCTGGGATTCTGGGAGAAGAGACCTATATTCTAACGACTGGGGCAGAGCCCTGGGTTCTGAGCTGGAGAAAATCGTGGGTTTGATACAGACTGTACTCGGGACCGGGAACCTAGGGTTTGGGTAGAGGTGAGGCCTGTCCCCTTTGGGCTGGGGGCAGAACATGGGCTCAGAGTTGGGGGACTAAGGGCGGAGCCTGGGTCCCCACAAGCGGTCCGAAGTCCCCAGTAGTTCAGAGGCCTTTGCGCTGCCGCTTGAGGAAAGACAGAGTGTAGTCACTAGGGGTGGACACTTTCTGCTTCTTCATCTGCACTTGCGACTGTGCCGTGAGTTGCAGCTTGATGGCGCTCGAGTTGATCTTGGTGGCCACCAGCAGCTCCTTCATGCCCTTCATCTTCTCACTCTGGAAAGTGAGCACTGGACCCTCCGGCGGTGGTGATGCTGTGGGTGCTGGCACCTGAGCCGTGCTGCCACCTTCAGGGCCTCGGGCTGTGCCAGCGACAGTCCCAGGAGGCTTCCGGGGGGGTCCTGACACTGCACCCTGGCCGGTGCCCAGGCCCTTGTCCAGTGCTGGCTTCTTGGGCGGCGGGGGCTCCTCTGGCTTGGACTCCCGCCGTGGGCCCCGCCGCCGGCCTTCCCGGGCTTCCTCGCCCCACGGCTCCTCGGCCTCGGCCGCCTCGGCCTCTCGGCTCACTATGCGCACCTTCTGCCGCACCTGGGCCAGTGGGGAGAGCAAGGTGAGAGCAAGGTTGCCGGCCAGTGGCTGGAACTCCAGGACCCTGCTCTGGCCATCCCATCCCACCCAGGGGGTCTCAGTCCCATCGGCACCCAAGGGGATGGGCAGATGCTGCCCCTGGGCCAGAAAAGTCTGACAAGCCCGTGGCTGCTGTCACCACCTGTAGTGCCCAGACCTCTGTGCAGCTGTCCCTCACCTGTCCCTCAAAACGGCCTAGGGACTGCACAAGAAAGGTGGCCCAGCCCACATGCAGCACAGGCGTGGGACTGCCCTCCTCCCATTTGCAGATGCCGTCGTAGAATCGCAGCAGGTGGGCGAAGCACTCAGGGTCCTGGAGGGCGGAACCTTGGCTCTGGGTGCCCTGGACGAGGGGGAAGGGAGGGCACAGATCAGTCTCTTACTCACCCCTTAGCAGAGGGCACAGGCCAGGCCCCCCACCTAGGCAAAGACCCCTGGCTCCAGAAAAGGTAAGCATAGGTTGGGAACATTCTTAGAACCTCTTTCCTTTTATAAAGCCAATCCATAGCCAGGACGTACCATCCCTACCTCCACCCCTCAGCTGAGGGAGGGAGTCTGGCCATGAAACTGAAGGCACAGGGTAGAAACCTCTAAAATACCTTCAGTCCCGTCCAACGTGGGCCCAGGACCTCAGTTATAGCAAAAGGGAACATAGCTGTCTGCTCAGGGCCACCTTCCTCCTGCCATCCCTAATCCCGTACATGCAGCCCCCATGGCCTGTGGAAGGGAGCCCTGTCCAGGTGGGAGGCTGGACACAGGCTGGAGCTCCAGCCTTTCACCTGGCTTTGCTCCCCCGGCCGCTCCTCGCCCGCCTCCAGCAAGCTGGCTGCCTCCTTCAGCAGGTTGGGGATGACATCATTGGCTACTTCAAAGAACTCCTTGTAGATCTCCTCGTCTTCCCGGCAGTAGTTGTAGCTGTGAGAGCAGTGGGGTCTCTGTAGGGTCTGAAGGGGTCTCACCATCGGGGGTAGCCCCAGGGACCTGGCGGGGGATGGAGCCCCCAGGGGCTGGGGGAGTAGGTGGGGTCCTCACTGCAAAATGATGCTGTCTGGGTCAGCCCAGAGGAAGAAAGCAAGAATGAGGAGGGGGGCATGGGGCCGAGGGTGGAAGTCCCACTGCTGGATGATGGTGGTTAAACATTGGAGATTTGAGACTGTTCTGAGAAAAAAAAAATTAGGAGGAGAGGGGAGGGAGGGAAAGATGTGACACCTTAATCAGGGTCCCTACCTCCTGGGTAATGGTGGCCTTGCTGCCTAGGGACTGGATGGAAAGGGGATGGGGCGTGGGAGCCAGGCCTCAGTCCTGGACGAGGGTGGTTGGAAACTGATGGAGGGGAAGAAAGGACAGGCTGCAGGCCCTAGTAGGGGGATCCTCACTCCTGGATGACAGTGGCCGTGTCCGCCCAGGCCTGCAGGGCTTCCCGCACATTGCGGTTGCGACAGTGGTAGCCAGCCAGGTACATGTAGGGGTAGATGTGTTCATCCCGATAGTAGGTCTTGGCTGAGGCAATGCCCTGGATGGAGGTGAGGCAGAGGATCCTCAGGGAGGCAGCCCCAGCTGCCCTGCTGGCACAAATGCCCCACCAGGGCACACCCAGAAGGGGCCACAGGAAGATCCCAGGGAGTCCTCTCCATCTCCACTCCCACCTCCACTCGCTGCCAGCCCTTCTACCTGGTCTCCTCCCTGGGTCTACAGGACTGCTGGCTGAGGCCTGGGGCAGACTGCAGGGGTGGGGCCTGCCCTCCGAGCTCAGGGCCCTTCTCTTTCTCAGACACTCTTCTACACATCACCAAAGACTTTCAAGCCCAGCCCAATGGCCCTCCTCCCCACCTACACCCACCAAGTGAACACCCCCTCTTCATCAGTGCTCCTGCCACATTTGACCTCTGTTATACTCCAGGAAGGACAGTAAGCAGTGGCAGAAAAGGCAGGGCTGAGGGGACAAATGCAGCCCCTGCCACTCCCAGGCTGGGGAACCCTGGACACCCCTCAGACAGCCCTGACTGAACTGATTCTGCACA | GCACGCCTCTCAGGGGTCTCGGAAACGTCAACCCTCCGCCCGCACCCCGCGCCCGCGGGCGCTCTGCCCTTCCTCTGGCGCAGAGGCCCGACCCGGGCCCTCACCTGGGTCTAGCTTGACTATCTTCACGGCGGCCAGTTCGGACGTGACCGTGTCGCGGGCCTGCAGGGGCGGAGGGTGAAGCGGGATGGGGGGCGGGGCCGGGGGCTAGATCCTGCCGCGGGGTGCGGGGCTGGCACCCTCCTCCCGGCTCTCCCGCCCGTCCCGTCGCACCTTGTAGACGTCGCCATAGGTCCCGGCCCCCACGCGCTGCAGCAGCTCGAAGCGGTCCCGCGGGTCCTGCAGCGACACATCCCGCAGCAGCGCCATGGCCCGGCGCCGGGCGGGCCGGCAGGCGGGCGGGCGCGAGCTGCGGAGCCGGCGCGGGGCGGCGCGGGGCGGGGCGGGCGCCCGTGGCTCTGAGGCCGCGGGGGCGGGGCTGAGGCCCGGGGGCGGGGCCGCGCCGGGGATGCCCCACCGCCAGTCCGGGAGGAGGCGCCCGCGGGACGGGCCCTCGGCGGCGCGGGGAAGCCCCAAGGCCGGGGCGGAGCCTACGTCCTTCCGCCGCCACTGTCGCTCGCGCTCCACAGGTAGGGAGCGCAAAGTCCCGGGAGCCAGAAGACAGAGGGAAGAGGGGGCGCTCCACTCCCCGCCCCATCCCCAATTTCCCAGATAAACATGGACTTGCGCTTTATATTTTTTTTAACAAAATGTATTCATCTTTCTTGGAACTGAAAAATAAATCTATGTACAAAACAGGAAGAGATCAGGCTCTTGTCACCCACTCCTAACCCTCTGCAGATTTCCTCCGGGATGCTCCGAGATGGGCTGGACCTCTGGGAGGTTCCCAGAGGGTCGGAAGGGAGGTCCTGCTCTGATCCGGGGCCAGTTTCGTCAGGAAGAGGGCGGGGCTCAGGATGCTCATAGGCTGGGGGCGGAGTTTTGTGTCCCAGACTCGGGATACGAAGGAGAGGAAACTAGGATTTCCAAATTCTGGAGCAGGACTGAAGTTATTTGGGGCAGGGAGCTTGGATTCGCAAGATATGGAATTCTGAAGTGCGGAAATATACTCCTAGGGGCTGAGTGGTCCTAGGCTCCCGGGCTGGAGGTGGGACCTGTGCTCCTTGGGTTAAGGGTGAAACCTCAGCTCCTACAAGCTGGGAGGAGCCCTGAGTAACGTTGGTCTGGCTCTAGGTGAGCGGTTCCGAGGAGGAGCTTGGGTTTCTAGGGGCTGGGCCTTTAAAGACTGGTAATTAGGACCCAGCGTGAGGTTTCCATTGGCCGGCTGGGATTCTGGGAGAAGAGACCTATATTCTAACGACTGGGGCAGAGCCCTGGGTTCTGAGCTGGAGAAAATCGTGGGTTTGATACAGACTGTACTCGGGACCGGGAACCTAGGGTTTGGGTAGAGGTGAGGCCTGTCCCCTTTGGGCTGGGGGCAGAACATGGGCTCAGAGTTGGGGGACTAAGGGCGGAGCCTGGGTCCCCACAAGCGGTCCGAAGTCCCCAGTAGTTCAGAGGCCTTTGCGCTGCCGCTTGAGGAAAGACAGAGTGTAGTCACTAGGGGTGGACACTTTCTGCTTCTTCATCTGCACTTGCGACTGTGCCGTGAGTTGCAGCTTGATGGCGCTCGAGTTGATCTTGGTGGCCACCAGCAGCTCCTTCATGCCCTTCATCTTCTCACTCTGGAAAGTGAGCACTGGACCCTCCGGCGGTGGTGATGCTGTGGGTGCTGGCACCTGAGCCGTGCTGCCACCTTCAGGGCCTCGGGCTGTGCCAGCGACAGTCCCAGGAGGCTTCCGGGGGGGTCCTGACACTGCACCCTGGCCGGTGCCCAGGCCCTTGTCCAGTGCTGGCTTCTTGGGCGGCGGGGGCTCCTCTGGCTTGGACTCCCGCCGTGGGCCCCGCCGCCGGCCTTCCCGGGCTTCCTCGCCCCACGGCTCCTCGGCCTCGGCCGCCTCGGCCTCTCGGCTCACTATGCGCACCTTCTGCCGCACCTGGGCCAGTGGGGAGAGCAAGGTTGCCGGCCAGTGGCTGGAACTCCAGGACCCTGCTCTGGCCATCCCATCCCACCCAGGGGGTCTCAGTCCCATCGGCACCCAAGGGGATGGGCAGATGCTGCCCCTGGGCCAGAAAAGTCTGACAAGCCCGTGGCTGCTGTCACCACCTGTAGTGCCCAGACCTCTGTGCAGCTGTCCCTCACCTGTCCCTCAAAACGGCCTAGGGACTGCACAAGAAAGGTGGCCCAGCCCACATGCAGCACAGGCGTGGGACTGCCCTCCTCCCATTTGCAGATGCCGTCGTAGAATCGCAGCAGGTGGGCGAAGCACTCAGGGTCCTGGAGGGCGGAACCTTGGCTCTGGGTGCCCTGGACGAGGGGGAAGGGAGGGCACAGATCAGTCTCTTACTCACCCCTTAGCAGAGGGCACAGGCCAGGCCCCCCACCTAGGCAAAGACCCCTGGCTCCAGAAAAGGTAAGCATAGGTTGGGAACATTCTTAGAACCTCTTTCCTTTTATAAAGCCAATCCATAGCCAGGACGTACCATCCCTACCTCCACCCCTCAGCTGAGGGAGGGAGTCTGGCCATGAAACTGAAGGCACAGGGTAGAAACCTCTAAAATACCTTCAGTCCCGTCCAACGTGGGCCCAGGACCTCAGTTATAGCAAAAGGGAACATAGCTGTCTGCTCAGGGCCACCTTCCTCCTGCCATCCCTAATCCCGTACATGCAGCCCCCATGGCCTGTGGAAGGGAGCCCTGTCCAGGTGGGAGGCTGGACACAGGCTGGAGCTCCAGCCTTTCACCTGGCTTTGCTCCCCCGGCCGCTCCTCGCCCGCCTCCAGCAAGCTGGCTGCCTCCTTCAGCAGGTTGGGGATGACATCATTGGCTACTTCAAAGAACTCCTTGTAGATCTCCTCGTCTTCCCGGCAGTAGTTGTAGCTGTGAGAGCAGTGGGGTCTCTGTAGGGTCTGAAGGGGTCTCACCATCGGGGGTAGCCCCAGGGACCTGGCGGGGGATGGAGCCCCCAGGGGCTGGGGGAGTAGGTGGGGTCCTCACTGCAAAATGATGCTGTCTGGGTCAGCCCAGAGGAAGAAAGCAAGAATGAGGAGGGGGGCATGGGGCCGAGGGTGGAAGTCCCACTGCTGGATGATGGTGGTTAAACATTGGAGATTTGAGACTGTTCTGAGAAAAAAAAAATTAGGAGGAGAGGGGAGGGAGGGAAAGATGTGACACCTTAATCAGGGTCCCTACCTCCTGGGTAATGGTGGCCTTGCTGCCTAGGGACTGGATGGAAAGGGGATGGGGCGTGGGAGCCAGGCCTCAGTCCTGGACGAGGGTGGTTGGAAACTGATGGAGGGGAAGAAAGGACAGGCTGCAGGCCCTAGTAGGGGGATCCTCACTCCTGGATGACAGTGGCCGTGTCCGCCCAGGCCTGCAGGGCTTCCCGCACATTGCGGTTGCGACAGTGGTAGCCAGCCAGGTACATGTAGGGGTAGATGTGTTCATCCCGATAGTAGGTCTTGGCTGAGGCAATGCCCTGGATGGAGGTGAGGCAGAGGATCCTCAGGGAGGCAGCCCCAGCTGCCCTGCTGGCACAAATGCCCCACCAGGGCACACCCAGAAGGGGCCACAGGAAGATCCCAGGGAGTCCTCTCCATCTCCACTCCCACCTCCACTCGCTGCCAGCCCTTCTACCTGGTCTCCTCCCTGGGTCTACAGGACTGCTGGCTGAGGCCTGGGGCAGACTGCAGGGGTGGGGCCTGCCCTCCGAGCTCAGGGCCCTTCTCTTTCTCAGACACTCTTCTACACATCACCAAAGACTTTCAAGCCCAGCCCAATGGCCCTCCTCCCCACCTACACCCACCAAGTGAACACCCCCTCTTCATCAGTGCTCCTGCCACATTTGACCTCTGTTATACTCCAGGAAGGACAGTAAGCAGTGGCAGAAAAGGCAGGGCTGAGGGGACAAATGCAGCCCCTGCCACTCCCAGGCTGGGGAACCCTGGACACCCCTCAGACAGCCCTGACTGAACTGATTCTGCACANNNNNNNNNNN | benign | 177,666 |
The chromosome 11, position 64805022 genetic variant in gene MEN1 (menin 1): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Multiple_endocrine_neoplasia,_type_1'] | GGCGGGGCCGGGGGCTAGATCCTGCCGCGGGGTGCGGGGCTGGCACCCTCCTCCCGGCTCTCCCGCCCGTCCCGTCGCACCTTGTAGACGTCGCCATAGGTCCCGGCCCCCACGCGCTGCAGCAGCTCGAAGCGGTCCCGCGGGTCCTGCAGCGACACATCCCGCAGCAGCGCCATGGCCCGGCGCCGGGCGGGCCGGCAGGCGGGCGGGCGCGAGCTGCGGAGCCGGCGCGGGGCGGCGCGGGGCGGGGCGGGCGCCCGTGGCTCTGAGGCCGCGGGGGCGGGGCTGAGGCCCGGGGGCGGGGCCGCGCCGGGGATGCCCCACCGCCAGTCCGGGAGGAGGCGCCCGCGGGACGGGCCCTCGGCGGCGCGGGGAAGCCCCAAGGCCGGGGCGGAGCCTACGTCCTTCCGCCGCCACTGTCGCTCGCGCTCCACAGGTAGGGAGCGCAAAGTCCCGGGAGCCAGAAGACAGAGGGAAGAGGGGGCGCTCCACTCCCCGCCCCATCCCCAATTTCCCAGATAAACATGGACTTGCGCTTTATATTTTTTTTAACAAAATGTATTCATCTTTCTTGGAACTGAAAAATAAATCTATGTACAAAACAGGAAGAGATCAGGCTCTTGTCACCCACTCCTAACCCTCTGCAGATTTCCTCCGGGATGCTCCGAGATGGGCTGGACCTCTGGGAGGTTCCCAGAGGGTCGGAAGGGAGGTCCTGCTCTGATCCGGGGCCAGTTTCGTCAGGAAGAGGGCGGGGCTCAGGATGCTCATAGGCTGGGGGCGGAGTTTTGTGTCCCAGACTCGGGATACGAAGGAGAGGAAACTAGGATTTCCAAATTCTGGAGCAGGACTGAAGTTATTTGGGGCAGGGAGCTTGGATTCGCAAGATATGGAATTCTGAAGTGCGGAAATATACTCCTAGGGGCTGAGTGGTCCTAGGCTCCCGGGCTGGAGGTGGGACCTGTGCTCCTTGGGTTAAGGGTGAAACCTCAGCTCCTACAAGCTGGGAGGAGCCCTGAGTAACGTTGGTCTGGCTCTAGGTGAGCGGTTCCGAGGAGGAGCTTGGGTTTCTAGGGGCTGGGCCTTTAAAGACTGGTAATTAGGACCCAGCGTGAGGTTTCCATTGGCCGGCTGGGATTCTGGGAGAAGAGACCTATATTCTAACGACTGGGGCAGAGCCCTGGGTTCTGAGCTGGAGAAAATCGTGGGTTTGATACAGACTGTACTCGGGACCGGGAACCTAGGGTTTGGGTAGAGGTGAGGCCTGTCCCCTTTGGGCTGGGGGCAGAACATGGGCTCAGAGTTGGGGGACTAAGGGCGGAGCCTGGGTCCCCACAAGCGGTCCGAAGTCCCCAGTAGTTCAGAGGCCTTTGCGCTGCCGCTTGAGGAAAGACAGAGTGTAGTCACTAGGGGTGGACACTTTCTGCTTCTTCATCTGCACTTGCGACTGTGCCGTGAGTTGCAGCTTGATGGCGCTCGAGTTGATCTTGGTGGCCACCAGCAGCTCCTTCATGCCCTTCATCTTCTCACTCTGGAAAGTGAGCACTGGACCCTCCGGCGGTGGTGATGCTGTGGGTGCTGGCACCTGAGCCGTGCTGCCACCTTCAGGGCCTCGGGCTGTGCCAGCGACAGTCCCAGGAGGCTTCCGGGGGGGTCCTGACACTGCACCCTGGCCGGTGCCCAGGCCCTTGTCCAGTGCTGGCTTCTTGGGCGGCGGGGGCTCCTCTGGCTTGGACTCCCGCCGTGGGCCCCGCCGCCGGCCTTCCCGGGCTTCCTCGCCCCACGGCTCCTCGGCCTCGGCCGCCTCGGCCTCTCGGCTCACTATGCGCACCTTCTGCCGCACCTGGGCCAGTGGGGAGAGCAAGGTGAGAGCAAGGTTGCCGGCCAGTGGCTGGAACTCCAGGACCCTGCTCTGGCCATCCCATCCCACCCAGGGGGTCTCAGTCCCATCGGCACCCAAGGGGATGGGCAGATGCTGCCCCTGGGCCAGAAAAGTCTGACAAGCCCGTGGCTGCTGTCACCACCTGTAGTGCCCAGACCTCTGTGCAGCTGTCCCTCACCTGTCCCTCAAAACGGCCTAGGGACTGCACAAGAAAGGTGGCCCAGCCCACATGCAGCACAGGCGTGGGACTGCCCTCCTCCCATTTGCAGATGCCGTCGTAGAATCGCAGCAGGTGGGCGAAGCACTCAGGGTCCTGGAGGGCGGAACCTTGGCTCTGGGTGCCCTGGACGAGGGGGAAGGGAGGGCACAGATCAGTCTCTTACTCACCCCTTAGCAGAGGGCACAGGCCAGGCCCCCCACCTAGGCAAAGACCCCTGGCTCCAGAAAAGGTAAGCATAGGTTGGGAACATTCTTAGAACCTCTTTCCTTTTATAAAGCCAATCCATAGCCAGGACGTACCATCCCTACCTCCACCCCTCAGCTGAGGGAGGGAGTCTGGCCATGAAACTGAAGGCACAGGGTAGAAACCTCTAAAATACCTTCAGTCCCGTCCAACGTGGGCCCAGGACCTCAGTTATAGCAAAAGGGAACATAGCTGTCTGCTCAGGGCCACCTTCCTCCTGCCATCCCTAATCCCGTACATGCAGCCCCCATGGCCTGTGGAAGGGAGCCCTGTCCAGGTGGGAGGCTGGACACAGGCTGGAGCTCCAGCCTTTCACCTGGCTTTGCTCCCCCGGCCGCTCCTCGCCCGCCTCCAGCAAGCTGGCTGCCTCCTTCAGCAGGTTGGGGATGACATCATTGGCTACTTCAAAGAACTCCTTGTAGATCTCCTCGTCTTCCCGGCAGTAGTTGTAGCTGTGAGAGCAGTGGGGTCTCTGTAGGGTCTGAAGGGGTCTCACCATCGGGGGTAGCCCCAGGGACCTGGCGGGGGATGGAGCCCCCAGGGGCTGGGGGAGTAGGTGGGGTCCTCACTGCAAAATGATGCTGTCTGGGTCAGCCCAGAGGAAGAAAGCAAGAATGAGGAGGGGGGCATGGGGCCGAGGGTGGAAGTCCCACTGCTGGATGATGGTGGTTAAACATTGGAGATTTGAGACTGTTCTGAGAAAAAAAAAATTAGGAGGAGAGGGGAGGGAGGGAAAGATGTGACACCTTAATCAGGGTCCCTACCTCCTGGGTAATGGTGGCCTTGCTGCCTAGGGACTGGATGGAAAGGGGATGGGGCGTGGGAGCCAGGCCTCAGTCCTGGACGAGGGTGGTTGGAAACTGATGGAGGGGAAGAAAGGACAGGCTGCAGGCCCTAGTAGGGGGATCCTCACTCCTGGATGACAGTGGCCGTGTCCGCCCAGGCCTGCAGGGCTTCCCGCACATTGCGGTTGCGACAGTGGTAGCCAGCCAGGTACATGTAGGGGTAGATGTGTTCATCCCGATAGTAGGTCTTGGCTGAGGCAATGCCCTGGATGGAGGTGAGGCAGAGGATCCTCAGGGAGGCAGCCCCAGCTGCCCTGCTGGCACAAATGCCCCACCAGGGCACACCCAGAAGGGGCCACAGGAAGATCCCAGGGAGTCCTCTCCATCTCCACTCCCACCTCCACTCGCTGCCAGCCCTTCTACCTGGTCTCCTCCCTGGGTCTACAGGACTGCTGGCTGAGGCCTGGGGCAGACTGCAGGGGTGGGGCCTGCCCTCCGAGCTCAGGGCCCTTCTCTTTCTCAGACACTCTTCTACACATCACCAAAGACTTTCAAGCCCAGCCCAATGGCCCTCCTCCCCACCTACACCCACCAAGTGAACACCCCCTCTTCATCAGTGCTCCTGCCACATTTGACCTCTGTTATACTCCAGGAAGGACAGTAAGCAGTGGCAGAAAAGGCAGGGCTGAGGGGACAAATGCAGCCCCTGCCACTCCCAGGCTGGGGAACCCTGGACACCCCTCAGACAGCCCTGACTGAACTGATTCTGCACACAGTTGACACAAAGTGAGACTGGATGGGCGATACCCCCCAACACACAAAGTTCTCTTCTCATCTGCCCAGATGAGGGCCCCTGCCTCAGCCACTGTTAGGGTCTCCCTTCTGCACCCTCCTTAGATGCCCCCACCTTGTGGTAGAGGGTGAGTGGGTCTGGCCGGCCAGGGGTGGGCTCCAGCTCCTCTAGAT | GGCGGGGCCGGGGGCTAGATCCTGCCGCGGGGTGCGGGGCTGGCACCCTCCTCCCGGCTCTCCCGCCCGTCCCGTCGCACCTTGTAGACGTCGCCATAGGTCCCGGCCCCCACGCGCTGCAGCAGCTCGAAGCGGTCCCGCGGGTCCTGCAGCGACACATCCCGCAGCAGCGCCATGGCCCGGCGCCGGGCGGGCCGGCAGGCGGGCGGGCGCGAGCTGCGGAGCCGGCGCGGGGCGGCGCGGGGCGGGGCGGGCGCCCGTGGCTCTGAGGCCGCGGGGGCGGGGCTGAGGCCCGGGGGCGGGGCCGCGCCGGGGATGCCCCACCGCCAGTCCGGGAGGAGGCGCCCGCGGGACGGGCCCTCGGCGGCGCGGGGAAGCCCCAAGGCCGGGGCGGAGCCTACGTCCTTCCGCCGCCACTGTCGCTCGCGCTCCACAGGTAGGGAGCGCAAAGTCCCGGGAGCCAGAAGACAGAGGGAAGAGGGGGCGCTCCACTCCCCGCCCCATCCCCAATTTCCCAGATAAACATGGACTTGCGCTTTATATTTTTTTTAACAAAATGTATTCATCTTTCTTGGAACTGAAAAATAAATCTATGTACAAAACAGGAAGAGATCAGGCTCTTGTCACCCACTCCTAACCCTCTGCAGATTTCCTCCGGGATGCTCCGAGATGGGCTGGACCTCTGGGAGGTTCCCAGAGGGTCGGAAGGGAGGTCCTGCTCTGATCCGGGGCCAGTTTCGTCAGGAAGAGGGCGGGGCTCAGGATGCTCATAGGCTGGGGGCGGAGTTTTGTGTCCCAGACTCGGGATACGAAGGAGAGGAAACTAGGATTTCCAAATTCTGGAGCAGGACTGAAGTTATTTGGGGCAGGGAGCTTGGATTCGCAAGATATGGAATTCTGAAGTGCGGAAATATACTCCTAGGGGCTGAGTGGTCCTAGGCTCCCGGGCTGGAGGTGGGACCTGTGCTCCTTGGGTTAAGGGTGAAACCTCAGCTCCTACAAGCTGGGAGGAGCCCTGAGTAACGTTGGTCTGGCTCTAGGTGAGCGGTTCCGAGGAGGAGCTTGGGTTTCTAGGGGCTGGGCCTTTAAAGACTGGTAATTAGGACCCAGCGTGAGGTTTCCATTGGCCGGCTGGGATTCTGGGAGAAGAGACCTATATTCTAACGACTGGGGCAGAGCCCTGGGTTCTGAGCTGGAGAAAATCGTGGGTTTGATACAGACTGTACTCGGGACCGGGAACCTAGGGTTTGGGTAGAGGTGAGGCCTGTCCCCTTTGGGCTGGGGGCAGAACATGGGCTCAGAGTTGGGGGACTAAGGGCGGAGCCTGGGTCCCCACAAGCGGTCCGAAGTCCCCAGTAGTTCAGAGGCCTTTGCGCTGCCGCTTGAGGAAAGACAGAGTGTAGTCACTAGGGGTGGACACTTTCTGCTTCTTCATCTGCACTTGCGACTGTGCCGTGAGTTGCAGCTTGATGGCGCTCGAGTTGATCTTGGTGGCCACCAGCAGCTCCTTCATGCCCTTCATCTTCTCACTCTGGAAAGTGAGCACTGGACCCTCCGGCGGTGGTGATGCTGTGGGTGCTGGCACCTGAGCCGTGCTGCCACCTTCAGGGCCTCGGGCTGTGCCAGCGACAGTCCCAGGAGGCTTCCGGGGGGGTCCTGACACTGCACCCTGGCCGGTGCCCAGGCCCTTGTCCAGTGCTGGCTTCTTGGGCGGCGGGGGCTCCTCTGGCTTGGACTCCCGCCGTGGGCCCCGCCGCCGGCCTTCCCGGGCTTCCTCGCCCCACGGCTCCTCGGCCTCGGCCGCCTCGGCCTCTCGGCTCACTATGCGCACCTTCTGCCGCACCTGGGCCAGTGGGGAGAGCAAGGTGAGAGCAAGGTTGCCGGCCAGTGGCTGGAACTCCAGGACCCTGCTCTGGCCATCCCATCCCACCCAGGGGGTCTCAGTCCCATCGGCACCCAAGGGGATGGGCAGATGCTGCCCCTGGGCCAGAAAAGTCTGACAAGCCCGTGGCTGCTGTCACCACCTGTAGTGCCCAGACCTCTGTGCAGCTGTCCCTCAAAACGGCCTAGGGACTGCACAAGAAAGGTGGCCCAGCCCACATGCAGCACAGGCGTGGGACTGCCCTCCTCCCATTTGCAGATGCCGTCGTAGAATCGCAGCAGGTGGGCGAAGCACTCAGGGTCCTGGAGGGCGGAACCTTGGCTCTGGGTGCCCTGGACGAGGGGGAAGGGAGGGCACAGATCAGTCTCTTACTCACCCCTTAGCAGAGGGCACAGGCCAGGCCCCCCACCTAGGCAAAGACCCCTGGCTCCAGAAAAGGTAAGCATAGGTTGGGAACATTCTTAGAACCTCTTTCCTTTTATAAAGCCAATCCATAGCCAGGACGTACCATCCCTACCTCCACCCCTCAGCTGAGGGAGGGAGTCTGGCCATGAAACTGAAGGCACAGGGTAGAAACCTCTAAAATACCTTCAGTCCCGTCCAACGTGGGCCCAGGACCTCAGTTATAGCAAAAGGGAACATAGCTGTCTGCTCAGGGCCACCTTCCTCCTGCCATCCCTAATCCCGTACATGCAGCCCCCATGGCCTGTGGAAGGGAGCCCTGTCCAGGTGGGAGGCTGGACACAGGCTGGAGCTCCAGCCTTTCACCTGGCTTTGCTCCCCCGGCCGCTCCTCGCCCGCCTCCAGCAAGCTGGCTGCCTCCTTCAGCAGGTTGGGGATGACATCATTGGCTACTTCAAAGAACTCCTTGTAGATCTCCTCGTCTTCCCGGCAGTAGTTGTAGCTGTGAGAGCAGTGGGGTCTCTGTAGGGTCTGAAGGGGTCTCACCATCGGGGGTAGCCCCAGGGACCTGGCGGGGGATGGAGCCCCCAGGGGCTGGGGGAGTAGGTGGGGTCCTCACTGCAAAATGATGCTGTCTGGGTCAGCCCAGAGGAAGAAAGCAAGAATGAGGAGGGGGGCATGGGGCCGAGGGTGGAAGTCCCACTGCTGGATGATGGTGGTTAAACATTGGAGATTTGAGACTGTTCTGAGAAAAAAAAAATTAGGAGGAGAGGGGAGGGAGGGAAAGATGTGACACCTTAATCAGGGTCCCTACCTCCTGGGTAATGGTGGCCTTGCTGCCTAGGGACTGGATGGAAAGGGGATGGGGCGTGGGAGCCAGGCCTCAGTCCTGGACGAGGGTGGTTGGAAACTGATGGAGGGGAAGAAAGGACAGGCTGCAGGCCCTAGTAGGGGGATCCTCACTCCTGGATGACAGTGGCCGTGTCCGCCCAGGCCTGCAGGGCTTCCCGCACATTGCGGTTGCGACAGTGGTAGCCAGCCAGGTACATGTAGGGGTAGATGTGTTCATCCCGATAGTAGGTCTTGGCTGAGGCAATGCCCTGGATGGAGGTGAGGCAGAGGATCCTCAGGGAGGCAGCCCCAGCTGCCCTGCTGGCACAAATGCCCCACCAGGGCACACCCAGAAGGGGCCACAGGAAGATCCCAGGGAGTCCTCTCCATCTCCACTCCCACCTCCACTCGCTGCCAGCCCTTCTACCTGGTCTCCTCCCTGGGTCTACAGGACTGCTGGCTGAGGCCTGGGGCAGACTGCAGGGGTGGGGCCTGCCCTCCGAGCTCAGGGCCCTTCTCTTTCTCAGACACTCTTCTACACATCACCAAAGACTTTCAAGCCCAGCCCAATGGCCCTCCTCCCCACCTACACCCACCAAGTGAACACCCCCTCTTCATCAGTGCTCCTGCCACATTTGACCTCTGTTATACTCCAGGAAGGACAGTAAGCAGTGGCAGAAAAGGCAGGGCTGAGGGGACAAATGCAGCCCCTGCCACTCCCAGGCTGGGGAACCCTGGACACCCCTCAGACAGCCCTGACTGAACTGATTCTGCACACAGTTGACACAAAGTGAGACTGGATGGGCGATACCCCCCAACACACAAAGTTCTCTTCTCATCTGCCCAGATGAGGGCCCCTGCCTCAGCCACTGTTAGGGTCTCCCTTCTGCACCCTCCTTAGATGCCCCCACCTTGTGGTAGAGGGTGAGTGGGTCTGGCCGGCCAGGGGTGGGCTCCAGCTCCTCTAGATNNNNNNNNNNN | pathogenic | 177,669 |
Evaluate the clinical significance of the mutation at chromosome 11, position 64805101 in gene MEN1 (menin 1): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Multiple_endocrine_neoplasia,_type_1'] | CCTTGTAGACGTCGCCATAGGTCCCGGCCCCCACGCGCTGCAGCAGCTCGAAGCGGTCCCGCGGGTCCTGCAGCGACACATCCCGCAGCAGCGCCATGGCCCGGCGCCGGGCGGGCCGGCAGGCGGGCGGGCGCGAGCTGCGGAGCCGGCGCGGGGCGGCGCGGGGCGGGGCGGGCGCCCGTGGCTCTGAGGCCGCGGGGGCGGGGCTGAGGCCCGGGGGCGGGGCCGCGCCGGGGATGCCCCACCGCCAGTCCGGGAGGAGGCGCCCGCGGGACGGGCCCTCGGCGGCGCGGGGAAGCCCCAAGGCCGGGGCGGAGCCTACGTCCTTCCGCCGCCACTGTCGCTCGCGCTCCACAGGTAGGGAGCGCAAAGTCCCGGGAGCCAGAAGACAGAGGGAAGAGGGGGCGCTCCACTCCCCGCCCCATCCCCAATTTCCCAGATAAACATGGACTTGCGCTTTATATTTTTTTTAACAAAATGTATTCATCTTTCTTGGAACTGAAAAATAAATCTATGTACAAAACAGGAAGAGATCAGGCTCTTGTCACCCACTCCTAACCCTCTGCAGATTTCCTCCGGGATGCTCCGAGATGGGCTGGACCTCTGGGAGGTTCCCAGAGGGTCGGAAGGGAGGTCCTGCTCTGATCCGGGGCCAGTTTCGTCAGGAAGAGGGCGGGGCTCAGGATGCTCATAGGCTGGGGGCGGAGTTTTGTGTCCCAGACTCGGGATACGAAGGAGAGGAAACTAGGATTTCCAAATTCTGGAGCAGGACTGAAGTTATTTGGGGCAGGGAGCTTGGATTCGCAAGATATGGAATTCTGAAGTGCGGAAATATACTCCTAGGGGCTGAGTGGTCCTAGGCTCCCGGGCTGGAGGTGGGACCTGTGCTCCTTGGGTTAAGGGTGAAACCTCAGCTCCTACAAGCTGGGAGGAGCCCTGAGTAACGTTGGTCTGGCTCTAGGTGAGCGGTTCCGAGGAGGAGCTTGGGTTTCTAGGGGCTGGGCCTTTAAAGACTGGTAATTAGGACCCAGCGTGAGGTTTCCATTGGCCGGCTGGGATTCTGGGAGAAGAGACCTATATTCTAACGACTGGGGCAGAGCCCTGGGTTCTGAGCTGGAGAAAATCGTGGGTTTGATACAGACTGTACTCGGGACCGGGAACCTAGGGTTTGGGTAGAGGTGAGGCCTGTCCCCTTTGGGCTGGGGGCAGAACATGGGCTCAGAGTTGGGGGACTAAGGGCGGAGCCTGGGTCCCCACAAGCGGTCCGAAGTCCCCAGTAGTTCAGAGGCCTTTGCGCTGCCGCTTGAGGAAAGACAGAGTGTAGTCACTAGGGGTGGACACTTTCTGCTTCTTCATCTGCACTTGCGACTGTGCCGTGAGTTGCAGCTTGATGGCGCTCGAGTTGATCTTGGTGGCCACCAGCAGCTCCTTCATGCCCTTCATCTTCTCACTCTGGAAAGTGAGCACTGGACCCTCCGGCGGTGGTGATGCTGTGGGTGCTGGCACCTGAGCCGTGCTGCCACCTTCAGGGCCTCGGGCTGTGCCAGCGACAGTCCCAGGAGGCTTCCGGGGGGGTCCTGACACTGCACCCTGGCCGGTGCCCAGGCCCTTGTCCAGTGCTGGCTTCTTGGGCGGCGGGGGCTCCTCTGGCTTGGACTCCCGCCGTGGGCCCCGCCGCCGGCCTTCCCGGGCTTCCTCGCCCCACGGCTCCTCGGCCTCGGCCGCCTCGGCCTCTCGGCTCACTATGCGCACCTTCTGCCGCACCTGGGCCAGTGGGGAGAGCAAGGTGAGAGCAAGGTTGCCGGCCAGTGGCTGGAACTCCAGGACCCTGCTCTGGCCATCCCATCCCACCCAGGGGGTCTCAGTCCCATCGGCACCCAAGGGGATGGGCAGATGCTGCCCCTGGGCCAGAAAAGTCTGACAAGCCCGTGGCTGCTGTCACCACCTGTAGTGCCCAGACCTCTGTGCAGCTGTCCCTCACCTGTCCCTCAAAACGGCCTAGGGACTGCACAAGAAAGGTGGCCCAGCCCACATGCAGCACAGGCGTGGGACTGCCCTCCTCCCATTTGCAGATGCCGTCGTAGAATCGCAGCAGGTGGGCGAAGCACTCAGGGTCCTGGAGGGCGGAACCTTGGCTCTGGGTGCCCTGGACGAGGGGGAAGGGAGGGCACAGATCAGTCTCTTACTCACCCCTTAGCAGAGGGCACAGGCCAGGCCCCCCACCTAGGCAAAGACCCCTGGCTCCAGAAAAGGTAAGCATAGGTTGGGAACATTCTTAGAACCTCTTTCCTTTTATAAAGCCAATCCATAGCCAGGACGTACCATCCCTACCTCCACCCCTCAGCTGAGGGAGGGAGTCTGGCCATGAAACTGAAGGCACAGGGTAGAAACCTCTAAAATACCTTCAGTCCCGTCCAACGTGGGCCCAGGACCTCAGTTATAGCAAAAGGGAACATAGCTGTCTGCTCAGGGCCACCTTCCTCCTGCCATCCCTAATCCCGTACATGCAGCCCCCATGGCCTGTGGAAGGGAGCCCTGTCCAGGTGGGAGGCTGGACACAGGCTGGAGCTCCAGCCTTTCACCTGGCTTTGCTCCCCCGGCCGCTCCTCGCCCGCCTCCAGCAAGCTGGCTGCCTCCTTCAGCAGGTTGGGGATGACATCATTGGCTACTTCAAAGAACTCCTTGTAGATCTCCTCGTCTTCCCGGCAGTAGTTGTAGCTGTGAGAGCAGTGGGGTCTCTGTAGGGTCTGAAGGGGTCTCACCATCGGGGGTAGCCCCAGGGACCTGGCGGGGGATGGAGCCCCCAGGGGCTGGGGGAGTAGGTGGGGTCCTCACTGCAAAATGATGCTGTCTGGGTCAGCCCAGAGGAAGAAAGCAAGAATGAGGAGGGGGGCATGGGGCCGAGGGTGGAAGTCCCACTGCTGGATGATGGTGGTTAAACATTGGAGATTTGAGACTGTTCTGAGAAAAAAAAAATTAGGAGGAGAGGGGAGGGAGGGAAAGATGTGACACCTTAATCAGGGTCCCTACCTCCTGGGTAATGGTGGCCTTGCTGCCTAGGGACTGGATGGAAAGGGGATGGGGCGTGGGAGCCAGGCCTCAGTCCTGGACGAGGGTGGTTGGAAACTGATGGAGGGGAAGAAAGGACAGGCTGCAGGCCCTAGTAGGGGGATCCTCACTCCTGGATGACAGTGGCCGTGTCCGCCCAGGCCTGCAGGGCTTCCCGCACATTGCGGTTGCGACAGTGGTAGCCAGCCAGGTACATGTAGGGGTAGATGTGTTCATCCCGATAGTAGGTCTTGGCTGAGGCAATGCCCTGGATGGAGGTGAGGCAGAGGATCCTCAGGGAGGCAGCCCCAGCTGCCCTGCTGGCACAAATGCCCCACCAGGGCACACCCAGAAGGGGCCACAGGAAGATCCCAGGGAGTCCTCTCCATCTCCACTCCCACCTCCACTCGCTGCCAGCCCTTCTACCTGGTCTCCTCCCTGGGTCTACAGGACTGCTGGCTGAGGCCTGGGGCAGACTGCAGGGGTGGGGCCTGCCCTCCGAGCTCAGGGCCCTTCTCTTTCTCAGACACTCTTCTACACATCACCAAAGACTTTCAAGCCCAGCCCAATGGCCCTCCTCCCCACCTACACCCACCAAGTGAACACCCCCTCTTCATCAGTGCTCCTGCCACATTTGACCTCTGTTATACTCCAGGAAGGACAGTAAGCAGTGGCAGAAAAGGCAGGGCTGAGGGGACAAATGCAGCCCCTGCCACTCCCAGGCTGGGGAACCCTGGACACCCCTCAGACAGCCCTGACTGAACTGATTCTGCACACAGTTGACACAAAGTGAGACTGGATGGGCGATACCCCCCAACACACAAAGTTCTCTTCTCATCTGCCCAGATGAGGGCCCCTGCCTCAGCCACTGTTAGGGTCTCCCTTCTGCACCCTCCTTAGATGCCCCCACCTTGTGGTAGAGGGTGAGTGGGTCTGGCCGGCCAGGGGTGGGCTCCAGCTCCTCTAGATCTGCCAGGTTCCCTAAGGCCATGGGGTACCTAGGAAAGGATCATAATTCAGGCTGCCACCCAGCCCCCCGGCCTCACCA | CCTTGTAGACGTCGCCATAGGTCCCGGCCCCCACGCGCTGCAGCAGCTCGAAGCGGTCCCGCGGGTCCTGCAGCGACACATCCCGCAGCAGCGCCATGGCCCGGCGCCGGGCGGGCCGGCAGGCGGGCGGGCGCGAGCTGCGGAGCCGGCGCGGGGCGGCGCGGGGCGGGGCGGGCGCCCGTGGCTCTGAGGCCGCGGGGGCGGGGCTGAGGCCCGGGGGCGGGGCCGCGCCGGGGATGCCCCACCGCCAGTCCGGGAGGAGGCGCCCGCGGGACGGGCCCTCGGCGGCGCGGGGAAGCCCCAAGGCCGGGGCGGAGCCTACGTCCTTCCGCCGCCACTGTCGCTCGCGCTCCACAGGTAGGGAGCGCAAAGTCCCGGGAGCCAGAAGACAGAGGGAAGAGGGGGCGCTCCACTCCCCGCCCCATCCCCAATTTCCCAGATAAACATGGACTTGCGCTTTATATTTTTTTTAACAAAATGTATTCATCTTTCTTGGAACTGAAAAATAAATCTATGTACAAAACAGGAAGAGATCAGGCTCTTGTCACCCACTCCTAACCCTCTGCAGATTTCCTCCGGGATGCTCCGAGATGGGCTGGACCTCTGGGAGGTTCCCAGAGGGTCGGAAGGGAGGTCCTGCTCTGATCCGGGGCCAGTTTCGTCAGGAAGAGGGCGGGGCTCAGGATGCTCATAGGCTGGGGGCGGAGTTTTGTGTCCCAGACTCGGGATACGAAGGAGAGGAAACTAGGATTTCCAAATTCTGGAGCAGGACTGAAGTTATTTGGGGCAGGGAGCTTGGATTCGCAAGATATGGAATTCTGAAGTGCGGAAATATACTCCTAGGGGCTGAGTGGTCCTAGGCTCCCGGGCTGGAGGTGGGACCTGTGCTCCTTGGGTTAAGGGTGAAACCTCAGCTCCTACAAGCTGGGAGGAGCCCTGAGTAACGTTGGTCTGGCTCTAGGTGAGCGGTTCCGAGGAGGAGCTTGGGTTTCTAGGGGCTGGGCCTTTAAAGACTGGTAATTAGGACCCAGCGTGAGGTTTCCATTGGCCGGCTGGGATTCTGGGAGAAGAGACCTATATTCTAACGACTGGGGCAGAGCCCTGGGTTCTGAGCTGGAGAAAATCGTGGGTTTGATACAGACTGTACTCGGGACCGGGAACCTAGGGTTTGGGTAGAGGTGAGGCCTGTCCCCTTTGGGCTGGGGGCAGAACATGGGCTCAGAGTTGGGGGACTAAGGGCGGAGCCTGGGTCCCCACAAGCGGTCCGAAGTCCCCAGTAGTTCAGAGGCCTTTGCGCTGCCGCTTGAGGAAAGACAGAGTGTAGTCACTAGGGGTGGACACTTTCTGCTTCTTCATCTGCACTTGCGACTGTGCCGTGAGTTGCAGCTTGATGGCGCTCGAGTTGATCTTGGTGGCCACCAGCAGCTCCTTCATGCCCTTCATCTTCTCACTCTGGAAAGTGAGCACTGGACCCTCCGGCGGTGGTGATGCTGTGGGTGCTGGCACCTGAGCCGTGCTGCCACCTTCAGGGCCTCGGGCTGTGCCAGCGACAGTCCCAGGAGGCTTCCGGGGGGGTCCTGACACTGCACCCTGGCCGGTGCCCAGGCCCTTGTCCAGTGCTGGCTTCTTGGGCGGCGGGGGCTCCTCTGGCTTGGACTCCCGCCGTGGGCCCCGCCGCCGGCCTTCCCGGGCTTCCTCGCCCCACGGCTCCTCGGCCTCGGCCGCCTCGGCCTCTCGGCTCACTATGCGCACCTTCTGCCGCACCTGGGCCAGTGGGGAGAGCAAGGTGAGAGCAAGGTTGCCGGCCAGTGGCTGGAACTCCAGGACCCTGCTCTGGCCATCCCATCCCACCCAGGGGGTCTCAGTCCCATCGGCACCCAAGGGGATGGGCAGATGCTGCCCCTGGGCCAGAAAAGTCTGACAAGCCCGTGGCTGCTGTCACCACCTGTAGTGCCCAGACCTCTGTGCAGCTGTCCCTCACCTGTCCCTCAAAACGGCCTAGGGACTGCACAAGAAAGGTGGCCCAGCCCACATGCAGCACAGGCGTGGGACTGACTGCCCTCCTCCCATTTGCAGATGCCGTCGTAGAATCGCAGCAGGTGGGCGAAGCACTCAGGGTCCTGGAGGGCGGAACCTTGGCTCTGGGTGCCCTGGACGAGGGGGAAGGGAGGGCACAGATCAGTCTCTTACTCACCCCTTAGCAGAGGGCACAGGCCAGGCCCCCCACCTAGGCAAAGACCCCTGGCTCCAGAAAAGGTAAGCATAGGTTGGGAACATTCTTAGAACCTCTTTCCTTTTATAAAGCCAATCCATAGCCAGGACGTACCATCCCTACCTCCACCCCTCAGCTGAGGGAGGGAGTCTGGCCATGAAACTGAAGGCACAGGGTAGAAACCTCTAAAATACCTTCAGTCCCGTCCAACGTGGGCCCAGGACCTCAGTTATAGCAAAAGGGAACATAGCTGTCTGCTCAGGGCCACCTTCCTCCTGCCATCCCTAATCCCGTACATGCAGCCCCCATGGCCTGTGGAAGGGAGCCCTGTCCAGGTGGGAGGCTGGACACAGGCTGGAGCTCCAGCCTTTCACCTGGCTTTGCTCCCCCGGCCGCTCCTCGCCCGCCTCCAGCAAGCTGGCTGCCTCCTTCAGCAGGTTGGGGATGACATCATTGGCTACTTCAAAGAACTCCTTGTAGATCTCCTCGTCTTCCCGGCAGTAGTTGTAGCTGTGAGAGCAGTGGGGTCTCTGTAGGGTCTGAAGGGGTCTCACCATCGGGGGTAGCCCCAGGGACCTGGCGGGGGATGGAGCCCCCAGGGGCTGGGGGAGTAGGTGGGGTCCTCACTGCAAAATGATGCTGTCTGGGTCAGCCCAGAGGAAGAAAGCAAGAATGAGGAGGGGGGCATGGGGCCGAGGGTGGAAGTCCCACTGCTGGATGATGGTGGTTAAACATTGGAGATTTGAGACTGTTCTGAGAAAAAAAAAATTAGGAGGAGAGGGGAGGGAGGGAAAGATGTGACACCTTAATCAGGGTCCCTACCTCCTGGGTAATGGTGGCCTTGCTGCCTAGGGACTGGATGGAAAGGGGATGGGGCGTGGGAGCCAGGCCTCAGTCCTGGACGAGGGTGGTTGGAAACTGATGGAGGGGAAGAAAGGACAGGCTGCAGGCCCTAGTAGGGGGATCCTCACTCCTGGATGACAGTGGCCGTGTCCGCCCAGGCCTGCAGGGCTTCCCGCACATTGCGGTTGCGACAGTGGTAGCCAGCCAGGTACATGTAGGGGTAGATGTGTTCATCCCGATAGTAGGTCTTGGCTGAGGCAATGCCCTGGATGGAGGTGAGGCAGAGGATCCTCAGGGAGGCAGCCCCAGCTGCCCTGCTGGCACAAATGCCCCACCAGGGCACACCCAGAAGGGGCCACAGGAAGATCCCAGGGAGTCCTCTCCATCTCCACTCCCACCTCCACTCGCTGCCAGCCCTTCTACCTGGTCTCCTCCCTGGGTCTACAGGACTGCTGGCTGAGGCCTGGGGCAGACTGCAGGGGTGGGGCCTGCCCTCCGAGCTCAGGGCCCTTCTCTTTCTCAGACACTCTTCTACACATCACCAAAGACTTTCAAGCCCAGCCCAATGGCCCTCCTCCCCACCTACACCCACCAAGTGAACACCCCCTCTTCATCAGTGCTCCTGCCACATTTGACCTCTGTTATACTCCAGGAAGGACAGTAAGCAGTGGCAGAAAAGGCAGGGCTGAGGGGACAAATGCAGCCCCTGCCACTCCCAGGCTGGGGAACCCTGGACACCCCTCAGACAGCCCTGACTGAACTGATTCTGCACACAGTTGACACAAAGTGAGACTGGATGGGCGATACCCCCCAACACACAAAGTTCTCTTCTCATCTGCCCAGATGAGGGCCCCTGCCTCAGCCACTGTTAGGGTCTCCCTTCTGCACCCTCCTTAGATGCCCCCACCTTGTGGTAGAGGGTGAGTGGGTCTGGCCGGCCAGGGGTGGGCTCCAGCTCCTCTAGATCTGCCAGGTTCCCTAAGGCCATGGGGTACCTAGGAAAGGATCATAATTCAGGCTGCCACCCAGCCCCCCGGCCTC | pathogenic | 177,688 |
The chromosome 11, position 64805107 genetic variant in gene MEN1 (menin 1): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Multiple_endocrine_neoplasia,_type_1'] | AGACGTCGCCATAGGTCCCGGCCCCCACGCGCTGCAGCAGCTCGAAGCGGTCCCGCGGGTCCTGCAGCGACACATCCCGCAGCAGCGCCATGGCCCGGCGCCGGGCGGGCCGGCAGGCGGGCGGGCGCGAGCTGCGGAGCCGGCGCGGGGCGGCGCGGGGCGGGGCGGGCGCCCGTGGCTCTGAGGCCGCGGGGGCGGGGCTGAGGCCCGGGGGCGGGGCCGCGCCGGGGATGCCCCACCGCCAGTCCGGGAGGAGGCGCCCGCGGGACGGGCCCTCGGCGGCGCGGGGAAGCCCCAAGGCCGGGGCGGAGCCTACGTCCTTCCGCCGCCACTGTCGCTCGCGCTCCACAGGTAGGGAGCGCAAAGTCCCGGGAGCCAGAAGACAGAGGGAAGAGGGGGCGCTCCACTCCCCGCCCCATCCCCAATTTCCCAGATAAACATGGACTTGCGCTTTATATTTTTTTTAACAAAATGTATTCATCTTTCTTGGAACTGAAAAATAAATCTATGTACAAAACAGGAAGAGATCAGGCTCTTGTCACCCACTCCTAACCCTCTGCAGATTTCCTCCGGGATGCTCCGAGATGGGCTGGACCTCTGGGAGGTTCCCAGAGGGTCGGAAGGGAGGTCCTGCTCTGATCCGGGGCCAGTTTCGTCAGGAAGAGGGCGGGGCTCAGGATGCTCATAGGCTGGGGGCGGAGTTTTGTGTCCCAGACTCGGGATACGAAGGAGAGGAAACTAGGATTTCCAAATTCTGGAGCAGGACTGAAGTTATTTGGGGCAGGGAGCTTGGATTCGCAAGATATGGAATTCTGAAGTGCGGAAATATACTCCTAGGGGCTGAGTGGTCCTAGGCTCCCGGGCTGGAGGTGGGACCTGTGCTCCTTGGGTTAAGGGTGAAACCTCAGCTCCTACAAGCTGGGAGGAGCCCTGAGTAACGTTGGTCTGGCTCTAGGTGAGCGGTTCCGAGGAGGAGCTTGGGTTTCTAGGGGCTGGGCCTTTAAAGACTGGTAATTAGGACCCAGCGTGAGGTTTCCATTGGCCGGCTGGGATTCTGGGAGAAGAGACCTATATTCTAACGACTGGGGCAGAGCCCTGGGTTCTGAGCTGGAGAAAATCGTGGGTTTGATACAGACTGTACTCGGGACCGGGAACCTAGGGTTTGGGTAGAGGTGAGGCCTGTCCCCTTTGGGCTGGGGGCAGAACATGGGCTCAGAGTTGGGGGACTAAGGGCGGAGCCTGGGTCCCCACAAGCGGTCCGAAGTCCCCAGTAGTTCAGAGGCCTTTGCGCTGCCGCTTGAGGAAAGACAGAGTGTAGTCACTAGGGGTGGACACTTTCTGCTTCTTCATCTGCACTTGCGACTGTGCCGTGAGTTGCAGCTTGATGGCGCTCGAGTTGATCTTGGTGGCCACCAGCAGCTCCTTCATGCCCTTCATCTTCTCACTCTGGAAAGTGAGCACTGGACCCTCCGGCGGTGGTGATGCTGTGGGTGCTGGCACCTGAGCCGTGCTGCCACCTTCAGGGCCTCGGGCTGTGCCAGCGACAGTCCCAGGAGGCTTCCGGGGGGGTCCTGACACTGCACCCTGGCCGGTGCCCAGGCCCTTGTCCAGTGCTGGCTTCTTGGGCGGCGGGGGCTCCTCTGGCTTGGACTCCCGCCGTGGGCCCCGCCGCCGGCCTTCCCGGGCTTCCTCGCCCCACGGCTCCTCGGCCTCGGCCGCCTCGGCCTCTCGGCTCACTATGCGCACCTTCTGCCGCACCTGGGCCAGTGGGGAGAGCAAGGTGAGAGCAAGGTTGCCGGCCAGTGGCTGGAACTCCAGGACCCTGCTCTGGCCATCCCATCCCACCCAGGGGGTCTCAGTCCCATCGGCACCCAAGGGGATGGGCAGATGCTGCCCCTGGGCCAGAAAAGTCTGACAAGCCCGTGGCTGCTGTCACCACCTGTAGTGCCCAGACCTCTGTGCAGCTGTCCCTCACCTGTCCCTCAAAACGGCCTAGGGACTGCACAAGAAAGGTGGCCCAGCCCACATGCAGCACAGGCGTGGGACTGCCCTCCTCCCATTTGCAGATGCCGTCGTAGAATCGCAGCAGGTGGGCGAAGCACTCAGGGTCCTGGAGGGCGGAACCTTGGCTCTGGGTGCCCTGGACGAGGGGGAAGGGAGGGCACAGATCAGTCTCTTACTCACCCCTTAGCAGAGGGCACAGGCCAGGCCCCCCACCTAGGCAAAGACCCCTGGCTCCAGAAAAGGTAAGCATAGGTTGGGAACATTCTTAGAACCTCTTTCCTTTTATAAAGCCAATCCATAGCCAGGACGTACCATCCCTACCTCCACCCCTCAGCTGAGGGAGGGAGTCTGGCCATGAAACTGAAGGCACAGGGTAGAAACCTCTAAAATACCTTCAGTCCCGTCCAACGTGGGCCCAGGACCTCAGTTATAGCAAAAGGGAACATAGCTGTCTGCTCAGGGCCACCTTCCTCCTGCCATCCCTAATCCCGTACATGCAGCCCCCATGGCCTGTGGAAGGGAGCCCTGTCCAGGTGGGAGGCTGGACACAGGCTGGAGCTCCAGCCTTTCACCTGGCTTTGCTCCCCCGGCCGCTCCTCGCCCGCCTCCAGCAAGCTGGCTGCCTCCTTCAGCAGGTTGGGGATGACATCATTGGCTACTTCAAAGAACTCCTTGTAGATCTCCTCGTCTTCCCGGCAGTAGTTGTAGCTGTGAGAGCAGTGGGGTCTCTGTAGGGTCTGAAGGGGTCTCACCATCGGGGGTAGCCCCAGGGACCTGGCGGGGGATGGAGCCCCCAGGGGCTGGGGGAGTAGGTGGGGTCCTCACTGCAAAATGATGCTGTCTGGGTCAGCCCAGAGGAAGAAAGCAAGAATGAGGAGGGGGGCATGGGGCCGAGGGTGGAAGTCCCACTGCTGGATGATGGTGGTTAAACATTGGAGATTTGAGACTGTTCTGAGAAAAAAAAAATTAGGAGGAGAGGGGAGGGAGGGAAAGATGTGACACCTTAATCAGGGTCCCTACCTCCTGGGTAATGGTGGCCTTGCTGCCTAGGGACTGGATGGAAAGGGGATGGGGCGTGGGAGCCAGGCCTCAGTCCTGGACGAGGGTGGTTGGAAACTGATGGAGGGGAAGAAAGGACAGGCTGCAGGCCCTAGTAGGGGGATCCTCACTCCTGGATGACAGTGGCCGTGTCCGCCCAGGCCTGCAGGGCTTCCCGCACATTGCGGTTGCGACAGTGGTAGCCAGCCAGGTACATGTAGGGGTAGATGTGTTCATCCCGATAGTAGGTCTTGGCTGAGGCAATGCCCTGGATGGAGGTGAGGCAGAGGATCCTCAGGGAGGCAGCCCCAGCTGCCCTGCTGGCACAAATGCCCCACCAGGGCACACCCAGAAGGGGCCACAGGAAGATCCCAGGGAGTCCTCTCCATCTCCACTCCCACCTCCACTCGCTGCCAGCCCTTCTACCTGGTCTCCTCCCTGGGTCTACAGGACTGCTGGCTGAGGCCTGGGGCAGACTGCAGGGGTGGGGCCTGCCCTCCGAGCTCAGGGCCCTTCTCTTTCTCAGACACTCTTCTACACATCACCAAAGACTTTCAAGCCCAGCCCAATGGCCCTCCTCCCCACCTACACCCACCAAGTGAACACCCCCTCTTCATCAGTGCTCCTGCCACATTTGACCTCTGTTATACTCCAGGAAGGACAGTAAGCAGTGGCAGAAAAGGCAGGGCTGAGGGGACAAATGCAGCCCCTGCCACTCCCAGGCTGGGGAACCCTGGACACCCCTCAGACAGCCCTGACTGAACTGATTCTGCACACAGTTGACACAAAGTGAGACTGGATGGGCGATACCCCCCAACACACAAAGTTCTCTTCTCATCTGCCCAGATGAGGGCCCCTGCCTCAGCCACTGTTAGGGTCTCCCTTCTGCACCCTCCTTAGATGCCCCCACCTTGTGGTAGAGGGTGAGTGGGTCTGGCCGGCCAGGGGTGGGCTCCAGCTCCTCTAGATCTGCCAGGTTCCCTAAGGCCATGGGGTACCTAGGAAAGGATCATAATTCAGGCTGCCACCCAGCCCCCCGGCCTCACCAGGCGCA | AGACGTCGCCATAGGTCCCGGCCCCCACGCGCTGCAGCAGCTCGAAGCGGTCCCGCGGGTCCTGCAGCGACACATCCCGCAGCAGCGCCATGGCCCGGCGCCGGGCGGGCCGGCAGGCGGGCGGGCGCGAGCTGCGGAGCCGGCGCGGGGCGGCGCGGGGCGGGGCGGGCGCCCGTGGCTCTGAGGCCGCGGGGGCGGGGCTGAGGCCCGGGGGCGGGGCCGCGCCGGGGATGCCCCACCGCCAGTCCGGGAGGAGGCGCCCGCGGGACGGGCCCTCGGCGGCGCGGGGAAGCCCCAAGGCCGGGGCGGAGCCTACGTCCTTCCGCCGCCACTGTCGCTCGCGCTCCACAGGTAGGGAGCGCAAAGTCCCGGGAGCCAGAAGACAGAGGGAAGAGGGGGCGCTCCACTCCCCGCCCCATCCCCAATTTCCCAGATAAACATGGACTTGCGCTTTATATTTTTTTTAACAAAATGTATTCATCTTTCTTGGAACTGAAAAATAAATCTATGTACAAAACAGGAAGAGATCAGGCTCTTGTCACCCACTCCTAACCCTCTGCAGATTTCCTCCGGGATGCTCCGAGATGGGCTGGACCTCTGGGAGGTTCCCAGAGGGTCGGAAGGGAGGTCCTGCTCTGATCCGGGGCCAGTTTCGTCAGGAAGAGGGCGGGGCTCAGGATGCTCATAGGCTGGGGGCGGAGTTTTGTGTCCCAGACTCGGGATACGAAGGAGAGGAAACTAGGATTTCCAAATTCTGGAGCAGGACTGAAGTTATTTGGGGCAGGGAGCTTGGATTCGCAAGATATGGAATTCTGAAGTGCGGAAATATACTCCTAGGGGCTGAGTGGTCCTAGGCTCCCGGGCTGGAGGTGGGACCTGTGCTCCTTGGGTTAAGGGTGAAACCTCAGCTCCTACAAGCTGGGAGGAGCCCTGAGTAACGTTGGTCTGGCTCTAGGTGAGCGGTTCCGAGGAGGAGCTTGGGTTTCTAGGGGCTGGGCCTTTAAAGACTGGTAATTAGGACCCAGCGTGAGGTTTCCATTGGCCGGCTGGGATTCTGGGAGAAGAGACCTATATTCTAACGACTGGGGCAGAGCCCTGGGTTCTGAGCTGGAGAAAATCGTGGGTTTGATACAGACTGTACTCGGGACCGGGAACCTAGGGTTTGGGTAGAGGTGAGGCCTGTCCCCTTTGGGCTGGGGGCAGAACATGGGCTCAGAGTTGGGGGACTAAGGGCGGAGCCTGGGTCCCCACAAGCGGTCCGAAGTCCCCAGTAGTTCAGAGGCCTTTGCGCTGCCGCTTGAGGAAAGACAGAGTGTAGTCACTAGGGGTGGACACTTTCTGCTTCTTCATCTGCACTTGCGACTGTGCCGTGAGTTGCAGCTTGATGGCGCTCGAGTTGATCTTGGTGGCCACCAGCAGCTCCTTCATGCCCTTCATCTTCTCACTCTGGAAAGTGAGCACTGGACCCTCCGGCGGTGGTGATGCTGTGGGTGCTGGCACCTGAGCCGTGCTGCCACCTTCAGGGCCTCGGGCTGTGCCAGCGACAGTCCCAGGAGGCTTCCGGGGGGGTCCTGACACTGCACCCTGGCCGGTGCCCAGGCCCTTGTCCAGTGCTGGCTTCTTGGGCGGCGGGGGCTCCTCTGGCTTGGACTCCCGCCGTGGGCCCCGCCGCCGGCCTTCCCGGGCTTCCTCGCCCCACGGCTCCTCGGCCTCGGCCGCCTCGGCCTCTCGGCTCACTATGCGCACCTTCTGCCGCACCTGGGCCAGTGGGGAGAGCAAGGTGAGAGCAAGGTTGCCGGCCAGTGGCTGGAACTCCAGGACCCTGCTCTGGCCATCCCATCCCACCCAGGGGGTCTCAGTCCCATCGGCACCCAAGGGGATGGGCAGATGCTGCCCCTGGGCCAGAAAAGTCTGACAAGCCCGTGGCTGCTGTCACCACCTGTAGTGCCCAGACCTCTGTGCAGCTGTCCCTCACCTGTCCCTCAAAACGGCCTAGGGACTGCACAAGAAAGGTGGCCCAGCCCACATGCAGCACAGGCGTGGGACTGCCCTCCCATTTGCAGATGCCGTCGTAGAATCGCAGCAGGTGGGCGAAGCACTCAGGGTCCTGGAGGGCGGAACCTTGGCTCTGGGTGCCCTGGACGAGGGGGAAGGGAGGGCACAGATCAGTCTCTTACTCACCCCTTAGCAGAGGGCACAGGCCAGGCCCCCCACCTAGGCAAAGACCCCTGGCTCCAGAAAAGGTAAGCATAGGTTGGGAACATTCTTAGAACCTCTTTCCTTTTATAAAGCCAATCCATAGCCAGGACGTACCATCCCTACCTCCACCCCTCAGCTGAGGGAGGGAGTCTGGCCATGAAACTGAAGGCACAGGGTAGAAACCTCTAAAATACCTTCAGTCCCGTCCAACGTGGGCCCAGGACCTCAGTTATAGCAAAAGGGAACATAGCTGTCTGCTCAGGGCCACCTTCCTCCTGCCATCCCTAATCCCGTACATGCAGCCCCCATGGCCTGTGGAAGGGAGCCCTGTCCAGGTGGGAGGCTGGACACAGGCTGGAGCTCCAGCCTTTCACCTGGCTTTGCTCCCCCGGCCGCTCCTCGCCCGCCTCCAGCAAGCTGGCTGCCTCCTTCAGCAGGTTGGGGATGACATCATTGGCTACTTCAAAGAACTCCTTGTAGATCTCCTCGTCTTCCCGGCAGTAGTTGTAGCTGTGAGAGCAGTGGGGTCTCTGTAGGGTCTGAAGGGGTCTCACCATCGGGGGTAGCCCCAGGGACCTGGCGGGGGATGGAGCCCCCAGGGGCTGGGGGAGTAGGTGGGGTCCTCACTGCAAAATGATGCTGTCTGGGTCAGCCCAGAGGAAGAAAGCAAGAATGAGGAGGGGGGCATGGGGCCGAGGGTGGAAGTCCCACTGCTGGATGATGGTGGTTAAACATTGGAGATTTGAGACTGTTCTGAGAAAAAAAAAATTAGGAGGAGAGGGGAGGGAGGGAAAGATGTGACACCTTAATCAGGGTCCCTACCTCCTGGGTAATGGTGGCCTTGCTGCCTAGGGACTGGATGGAAAGGGGATGGGGCGTGGGAGCCAGGCCTCAGTCCTGGACGAGGGTGGTTGGAAACTGATGGAGGGGAAGAAAGGACAGGCTGCAGGCCCTAGTAGGGGGATCCTCACTCCTGGATGACAGTGGCCGTGTCCGCCCAGGCCTGCAGGGCTTCCCGCACATTGCGGTTGCGACAGTGGTAGCCAGCCAGGTACATGTAGGGGTAGATGTGTTCATCCCGATAGTAGGTCTTGGCTGAGGCAATGCCCTGGATGGAGGTGAGGCAGAGGATCCTCAGGGAGGCAGCCCCAGCTGCCCTGCTGGCACAAATGCCCCACCAGGGCACACCCAGAAGGGGCCACAGGAAGATCCCAGGGAGTCCTCTCCATCTCCACTCCCACCTCCACTCGCTGCCAGCCCTTCTACCTGGTCTCCTCCCTGGGTCTACAGGACTGCTGGCTGAGGCCTGGGGCAGACTGCAGGGGTGGGGCCTGCCCTCCGAGCTCAGGGCCCTTCTCTTTCTCAGACACTCTTCTACACATCACCAAAGACTTTCAAGCCCAGCCCAATGGCCCTCCTCCCCACCTACACCCACCAAGTGAACACCCCCTCTTCATCAGTGCTCCTGCCACATTTGACCTCTGTTATACTCCAGGAAGGACAGTAAGCAGTGGCAGAAAAGGCAGGGCTGAGGGGACAAATGCAGCCCCTGCCACTCCCAGGCTGGGGAACCCTGGACACCCCTCAGACAGCCCTGACTGAACTGATTCTGCACACAGTTGACACAAAGTGAGACTGGATGGGCGATACCCCCCAACACACAAAGTTCTCTTCTCATCTGCCCAGATGAGGGCCCCTGCCTCAGCCACTGTTAGGGTCTCCCTTCTGCACCCTCCTTAGATGCCCCCACCTTGTGGTAGAGGGTGAGTGGGTCTGGCCGGCCAGGGGTGGGCTCCAGCTCCTCTAGATCTGCCAGGTTCCCTAAGGCCATGGGGTACCTAGGAAAGGATCATAATTCAGGCTGCCACCCAGCCCCCCGGCCTCACCAGGCGCANNN | pathogenic | 177,690 |
A genetic alteration at chromosome 11, position 64805117, in gene MEN1 (menin 1)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Multiple_endocrine_neoplasia,_type_1'] | ATAGGTCCCGGCCCCCACGCGCTGCAGCAGCTCGAAGCGGTCCCGCGGGTCCTGCAGCGACACATCCCGCAGCAGCGCCATGGCCCGGCGCCGGGCGGGCCGGCAGGCGGGCGGGCGCGAGCTGCGGAGCCGGCGCGGGGCGGCGCGGGGCGGGGCGGGCGCCCGTGGCTCTGAGGCCGCGGGGGCGGGGCTGAGGCCCGGGGGCGGGGCCGCGCCGGGGATGCCCCACCGCCAGTCCGGGAGGAGGCGCCCGCGGGACGGGCCCTCGGCGGCGCGGGGAAGCCCCAAGGCCGGGGCGGAGCCTACGTCCTTCCGCCGCCACTGTCGCTCGCGCTCCACAGGTAGGGAGCGCAAAGTCCCGGGAGCCAGAAGACAGAGGGAAGAGGGGGCGCTCCACTCCCCGCCCCATCCCCAATTTCCCAGATAAACATGGACTTGCGCTTTATATTTTTTTTAACAAAATGTATTCATCTTTCTTGGAACTGAAAAATAAATCTATGTACAAAACAGGAAGAGATCAGGCTCTTGTCACCCACTCCTAACCCTCTGCAGATTTCCTCCGGGATGCTCCGAGATGGGCTGGACCTCTGGGAGGTTCCCAGAGGGTCGGAAGGGAGGTCCTGCTCTGATCCGGGGCCAGTTTCGTCAGGAAGAGGGCGGGGCTCAGGATGCTCATAGGCTGGGGGCGGAGTTTTGTGTCCCAGACTCGGGATACGAAGGAGAGGAAACTAGGATTTCCAAATTCTGGAGCAGGACTGAAGTTATTTGGGGCAGGGAGCTTGGATTCGCAAGATATGGAATTCTGAAGTGCGGAAATATACTCCTAGGGGCTGAGTGGTCCTAGGCTCCCGGGCTGGAGGTGGGACCTGTGCTCCTTGGGTTAAGGGTGAAACCTCAGCTCCTACAAGCTGGGAGGAGCCCTGAGTAACGTTGGTCTGGCTCTAGGTGAGCGGTTCCGAGGAGGAGCTTGGGTTTCTAGGGGCTGGGCCTTTAAAGACTGGTAATTAGGACCCAGCGTGAGGTTTCCATTGGCCGGCTGGGATTCTGGGAGAAGAGACCTATATTCTAACGACTGGGGCAGAGCCCTGGGTTCTGAGCTGGAGAAAATCGTGGGTTTGATACAGACTGTACTCGGGACCGGGAACCTAGGGTTTGGGTAGAGGTGAGGCCTGTCCCCTTTGGGCTGGGGGCAGAACATGGGCTCAGAGTTGGGGGACTAAGGGCGGAGCCTGGGTCCCCACAAGCGGTCCGAAGTCCCCAGTAGTTCAGAGGCCTTTGCGCTGCCGCTTGAGGAAAGACAGAGTGTAGTCACTAGGGGTGGACACTTTCTGCTTCTTCATCTGCACTTGCGACTGTGCCGTGAGTTGCAGCTTGATGGCGCTCGAGTTGATCTTGGTGGCCACCAGCAGCTCCTTCATGCCCTTCATCTTCTCACTCTGGAAAGTGAGCACTGGACCCTCCGGCGGTGGTGATGCTGTGGGTGCTGGCACCTGAGCCGTGCTGCCACCTTCAGGGCCTCGGGCTGTGCCAGCGACAGTCCCAGGAGGCTTCCGGGGGGGTCCTGACACTGCACCCTGGCCGGTGCCCAGGCCCTTGTCCAGTGCTGGCTTCTTGGGCGGCGGGGGCTCCTCTGGCTTGGACTCCCGCCGTGGGCCCCGCCGCCGGCCTTCCCGGGCTTCCTCGCCCCACGGCTCCTCGGCCTCGGCCGCCTCGGCCTCTCGGCTCACTATGCGCACCTTCTGCCGCACCTGGGCCAGTGGGGAGAGCAAGGTGAGAGCAAGGTTGCCGGCCAGTGGCTGGAACTCCAGGACCCTGCTCTGGCCATCCCATCCCACCCAGGGGGTCTCAGTCCCATCGGCACCCAAGGGGATGGGCAGATGCTGCCCCTGGGCCAGAAAAGTCTGACAAGCCCGTGGCTGCTGTCACCACCTGTAGTGCCCAGACCTCTGTGCAGCTGTCCCTCACCTGTCCCTCAAAACGGCCTAGGGACTGCACAAGAAAGGTGGCCCAGCCCACATGCAGCACAGGCGTGGGACTGCCCTCCTCCCATTTGCAGATGCCGTCGTAGAATCGCAGCAGGTGGGCGAAGCACTCAGGGTCCTGGAGGGCGGAACCTTGGCTCTGGGTGCCCTGGACGAGGGGGAAGGGAGGGCACAGATCAGTCTCTTACTCACCCCTTAGCAGAGGGCACAGGCCAGGCCCCCCACCTAGGCAAAGACCCCTGGCTCCAGAAAAGGTAAGCATAGGTTGGGAACATTCTTAGAACCTCTTTCCTTTTATAAAGCCAATCCATAGCCAGGACGTACCATCCCTACCTCCACCCCTCAGCTGAGGGAGGGAGTCTGGCCATGAAACTGAAGGCACAGGGTAGAAACCTCTAAAATACCTTCAGTCCCGTCCAACGTGGGCCCAGGACCTCAGTTATAGCAAAAGGGAACATAGCTGTCTGCTCAGGGCCACCTTCCTCCTGCCATCCCTAATCCCGTACATGCAGCCCCCATGGCCTGTGGAAGGGAGCCCTGTCCAGGTGGGAGGCTGGACACAGGCTGGAGCTCCAGCCTTTCACCTGGCTTTGCTCCCCCGGCCGCTCCTCGCCCGCCTCCAGCAAGCTGGCTGCCTCCTTCAGCAGGTTGGGGATGACATCATTGGCTACTTCAAAGAACTCCTTGTAGATCTCCTCGTCTTCCCGGCAGTAGTTGTAGCTGTGAGAGCAGTGGGGTCTCTGTAGGGTCTGAAGGGGTCTCACCATCGGGGGTAGCCCCAGGGACCTGGCGGGGGATGGAGCCCCCAGGGGCTGGGGGAGTAGGTGGGGTCCTCACTGCAAAATGATGCTGTCTGGGTCAGCCCAGAGGAAGAAAGCAAGAATGAGGAGGGGGGCATGGGGCCGAGGGTGGAAGTCCCACTGCTGGATGATGGTGGTTAAACATTGGAGATTTGAGACTGTTCTGAGAAAAAAAAAATTAGGAGGAGAGGGGAGGGAGGGAAAGATGTGACACCTTAATCAGGGTCCCTACCTCCTGGGTAATGGTGGCCTTGCTGCCTAGGGACTGGATGGAAAGGGGATGGGGCGTGGGAGCCAGGCCTCAGTCCTGGACGAGGGTGGTTGGAAACTGATGGAGGGGAAGAAAGGACAGGCTGCAGGCCCTAGTAGGGGGATCCTCACTCCTGGATGACAGTGGCCGTGTCCGCCCAGGCCTGCAGGGCTTCCCGCACATTGCGGTTGCGACAGTGGTAGCCAGCCAGGTACATGTAGGGGTAGATGTGTTCATCCCGATAGTAGGTCTTGGCTGAGGCAATGCCCTGGATGGAGGTGAGGCAGAGGATCCTCAGGGAGGCAGCCCCAGCTGCCCTGCTGGCACAAATGCCCCACCAGGGCACACCCAGAAGGGGCCACAGGAAGATCCCAGGGAGTCCTCTCCATCTCCACTCCCACCTCCACTCGCTGCCAGCCCTTCTACCTGGTCTCCTCCCTGGGTCTACAGGACTGCTGGCTGAGGCCTGGGGCAGACTGCAGGGGTGGGGCCTGCCCTCCGAGCTCAGGGCCCTTCTCTTTCTCAGACACTCTTCTACACATCACCAAAGACTTTCAAGCCCAGCCCAATGGCCCTCCTCCCCACCTACACCCACCAAGTGAACACCCCCTCTTCATCAGTGCTCCTGCCACATTTGACCTCTGTTATACTCCAGGAAGGACAGTAAGCAGTGGCAGAAAAGGCAGGGCTGAGGGGACAAATGCAGCCCCTGCCACTCCCAGGCTGGGGAACCCTGGACACCCCTCAGACAGCCCTGACTGAACTGATTCTGCACACAGTTGACACAAAGTGAGACTGGATGGGCGATACCCCCCAACACACAAAGTTCTCTTCTCATCTGCCCAGATGAGGGCCCCTGCCTCAGCCACTGTTAGGGTCTCCCTTCTGCACCCTCCTTAGATGCCCCCACCTTGTGGTAGAGGGTGAGTGGGTCTGGCCGGCCAGGGGTGGGCTCCAGCTCCTCTAGATCTGCCAGGTTCCCTAAGGCCATGGGGTACCTAGGAAAGGATCATAATTCAGGCTGCCACCCAGCCCCCCGGCCTCACCAGGCGCAGCCTGGCCAC | ATAGGTCCCGGCCCCCACGCGCTGCAGCAGCTCGAAGCGGTCCCGCGGGTCCTGCAGCGACACATCCCGCAGCAGCGCCATGGCCCGGCGCCGGGCGGGCCGGCAGGCGGGCGGGCGCGAGCTGCGGAGCCGGCGCGGGGCGGCGCGGGGCGGGGCGGGCGCCCGTGGCTCTGAGGCCGCGGGGGCGGGGCTGAGGCCCGGGGGCGGGGCCGCGCCGGGGATGCCCCACCGCCAGTCCGGGAGGAGGCGCCCGCGGGACGGGCCCTCGGCGGCGCGGGGAAGCCCCAAGGCCGGGGCGGAGCCTACGTCCTTCCGCCGCCACTGTCGCTCGCGCTCCACAGGTAGGGAGCGCAAAGTCCCGGGAGCCAGAAGACAGAGGGAAGAGGGGGCGCTCCACTCCCCGCCCCATCCCCAATTTCCCAGATAAACATGGACTTGCGCTTTATATTTTTTTTAACAAAATGTATTCATCTTTCTTGGAACTGAAAAATAAATCTATGTACAAAACAGGAAGAGATCAGGCTCTTGTCACCCACTCCTAACCCTCTGCAGATTTCCTCCGGGATGCTCCGAGATGGGCTGGACCTCTGGGAGGTTCCCAGAGGGTCGGAAGGGAGGTCCTGCTCTGATCCGGGGCCAGTTTCGTCAGGAAGAGGGCGGGGCTCAGGATGCTCATAGGCTGGGGGCGGAGTTTTGTGTCCCAGACTCGGGATACGAAGGAGAGGAAACTAGGATTTCCAAATTCTGGAGCAGGACTGAAGTTATTTGGGGCAGGGAGCTTGGATTCGCAAGATATGGAATTCTGAAGTGCGGAAATATACTCCTAGGGGCTGAGTGGTCCTAGGCTCCCGGGCTGGAGGTGGGACCTGTGCTCCTTGGGTTAAGGGTGAAACCTCAGCTCCTACAAGCTGGGAGGAGCCCTGAGTAACGTTGGTCTGGCTCTAGGTGAGCGGTTCCGAGGAGGAGCTTGGGTTTCTAGGGGCTGGGCCTTTAAAGACTGGTAATTAGGACCCAGCGTGAGGTTTCCATTGGCCGGCTGGGATTCTGGGAGAAGAGACCTATATTCTAACGACTGGGGCAGAGCCCTGGGTTCTGAGCTGGAGAAAATCGTGGGTTTGATACAGACTGTACTCGGGACCGGGAACCTAGGGTTTGGGTAGAGGTGAGGCCTGTCCCCTTTGGGCTGGGGGCAGAACATGGGCTCAGAGTTGGGGGACTAAGGGCGGAGCCTGGGTCCCCACAAGCGGTCCGAAGTCCCCAGTAGTTCAGAGGCCTTTGCGCTGCCGCTTGAGGAAAGACAGAGTGTAGTCACTAGGGGTGGACACTTTCTGCTTCTTCATCTGCACTTGCGACTGTGCCGTGAGTTGCAGCTTGATGGCGCTCGAGTTGATCTTGGTGGCCACCAGCAGCTCCTTCATGCCCTTCATCTTCTCACTCTGGAAAGTGAGCACTGGACCCTCCGGCGGTGGTGATGCTGTGGGTGCTGGCACCTGAGCCGTGCTGCCACCTTCAGGGCCTCGGGCTGTGCCAGCGACAGTCCCAGGAGGCTTCCGGGGGGGTCCTGACACTGCACCCTGGCCGGTGCCCAGGCCCTTGTCCAGTGCTGGCTTCTTGGGCGGCGGGGGCTCCTCTGGCTTGGACTCCCGCCGTGGGCCCCGCCGCCGGCCTTCCCGGGCTTCCTCGCCCCACGGCTCCTCGGCCTCGGCCGCCTCGGCCTCTCGGCTCACTATGCGCACCTTCTGCCGCACCTGGGCCAGTGGGGAGAGCAAGGTGAGAGCAAGGTTGCCGGCCAGTGGCTGGAACTCCAGGACCCTGCTCTGGCCATCCCATCCCACCCAGGGGGTCTCAGTCCCATCGGCACCCAAGGGGATGGGCAGATGCTGCCCCTGGGCCAGAAAAGTCTGACAAGCCCGTGGCTGCTGTCACCACCTGTAGTGCCCAGACCTCTGTGCAGCTGTCCCTCACCTGTCCCTCAAAACGGCCTAGGGACTGCACAAGAAAGGTGGCCCAGCCCACATGCAGCACAGGCGTGGGACTGCCCTCCTCCCATTGCAGATGCCGTCGTAGAATCGCAGCAGGTGGGCGAAGCACTCAGGGTCCTGGAGGGCGGAACCTTGGCTCTGGGTGCCCTGGACGAGGGGGAAGGGAGGGCACAGATCAGTCTCTTACTCACCCCTTAGCAGAGGGCACAGGCCAGGCCCCCCACCTAGGCAAAGACCCCTGGCTCCAGAAAAGGTAAGCATAGGTTGGGAACATTCTTAGAACCTCTTTCCTTTTATAAAGCCAATCCATAGCCAGGACGTACCATCCCTACCTCCACCCCTCAGCTGAGGGAGGGAGTCTGGCCATGAAACTGAAGGCACAGGGTAGAAACCTCTAAAATACCTTCAGTCCCGTCCAACGTGGGCCCAGGACCTCAGTTATAGCAAAAGGGAACATAGCTGTCTGCTCAGGGCCACCTTCCTCCTGCCATCCCTAATCCCGTACATGCAGCCCCCATGGCCTGTGGAAGGGAGCCCTGTCCAGGTGGGAGGCTGGACACAGGCTGGAGCTCCAGCCTTTCACCTGGCTTTGCTCCCCCGGCCGCTCCTCGCCCGCCTCCAGCAAGCTGGCTGCCTCCTTCAGCAGGTTGGGGATGACATCATTGGCTACTTCAAAGAACTCCTTGTAGATCTCCTCGTCTTCCCGGCAGTAGTTGTAGCTGTGAGAGCAGTGGGGTCTCTGTAGGGTCTGAAGGGGTCTCACCATCGGGGGTAGCCCCAGGGACCTGGCGGGGGATGGAGCCCCCAGGGGCTGGGGGAGTAGGTGGGGTCCTCACTGCAAAATGATGCTGTCTGGGTCAGCCCAGAGGAAGAAAGCAAGAATGAGGAGGGGGGCATGGGGCCGAGGGTGGAAGTCCCACTGCTGGATGATGGTGGTTAAACATTGGAGATTTGAGACTGTTCTGAGAAAAAAAAAATTAGGAGGAGAGGGGAGGGAGGGAAAGATGTGACACCTTAATCAGGGTCCCTACCTCCTGGGTAATGGTGGCCTTGCTGCCTAGGGACTGGATGGAAAGGGGATGGGGCGTGGGAGCCAGGCCTCAGTCCTGGACGAGGGTGGTTGGAAACTGATGGAGGGGAAGAAAGGACAGGCTGCAGGCCCTAGTAGGGGGATCCTCACTCCTGGATGACAGTGGCCGTGTCCGCCCAGGCCTGCAGGGCTTCCCGCACATTGCGGTTGCGACAGTGGTAGCCAGCCAGGTACATGTAGGGGTAGATGTGTTCATCCCGATAGTAGGTCTTGGCTGAGGCAATGCCCTGGATGGAGGTGAGGCAGAGGATCCTCAGGGAGGCAGCCCCAGCTGCCCTGCTGGCACAAATGCCCCACCAGGGCACACCCAGAAGGGGCCACAGGAAGATCCCAGGGAGTCCTCTCCATCTCCACTCCCACCTCCACTCGCTGCCAGCCCTTCTACCTGGTCTCCTCCCTGGGTCTACAGGACTGCTGGCTGAGGCCTGGGGCAGACTGCAGGGGTGGGGCCTGCCCTCCGAGCTCAGGGCCCTTCTCTTTCTCAGACACTCTTCTACACATCACCAAAGACTTTCAAGCCCAGCCCAATGGCCCTCCTCCCCACCTACACCCACCAAGTGAACACCCCCTCTTCATCAGTGCTCCTGCCACATTTGACCTCTGTTATACTCCAGGAAGGACAGTAAGCAGTGGCAGAAAAGGCAGGGCTGAGGGGACAAATGCAGCCCCTGCCACTCCCAGGCTGGGGAACCCTGGACACCCCTCAGACAGCCCTGACTGAACTGATTCTGCACACAGTTGACACAAAGTGAGACTGGATGGGCGATACCCCCCAACACACAAAGTTCTCTTCTCATCTGCCCAGATGAGGGCCCCTGCCTCAGCCACTGTTAGGGTCTCCCTTCTGCACCCTCCTTAGATGCCCCCACCTTGTGGTAGAGGGTGAGTGGGTCTGGCCGGCCAGGGGTGGGCTCCAGCTCCTCTAGATCTGCCAGGTTCCCTAAGGCCATGGGGTACCTAGGAAAGGATCATAATTCAGGCTGCCACCCAGCCCCCCGGCCTCACCAGGCGCAGCCTGGCCACN | pathogenic | 177,695 |
Does the variant impacting MEN1 (menin 1) on chromosome 11, position 64805127, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Multiple_endocrine_neoplasia,_type_1'] | GCCCCCACGCGCTGCAGCAGCTCGAAGCGGTCCCGCGGGTCCTGCAGCGACACATCCCGCAGCAGCGCCATGGCCCGGCGCCGGGCGGGCCGGCAGGCGGGCGGGCGCGAGCTGCGGAGCCGGCGCGGGGCGGCGCGGGGCGGGGCGGGCGCCCGTGGCTCTGAGGCCGCGGGGGCGGGGCTGAGGCCCGGGGGCGGGGCCGCGCCGGGGATGCCCCACCGCCAGTCCGGGAGGAGGCGCCCGCGGGACGGGCCCTCGGCGGCGCGGGGAAGCCCCAAGGCCGGGGCGGAGCCTACGTCCTTCCGCCGCCACTGTCGCTCGCGCTCCACAGGTAGGGAGCGCAAAGTCCCGGGAGCCAGAAGACAGAGGGAAGAGGGGGCGCTCCACTCCCCGCCCCATCCCCAATTTCCCAGATAAACATGGACTTGCGCTTTATATTTTTTTTAACAAAATGTATTCATCTTTCTTGGAACTGAAAAATAAATCTATGTACAAAACAGGAAGAGATCAGGCTCTTGTCACCCACTCCTAACCCTCTGCAGATTTCCTCCGGGATGCTCCGAGATGGGCTGGACCTCTGGGAGGTTCCCAGAGGGTCGGAAGGGAGGTCCTGCTCTGATCCGGGGCCAGTTTCGTCAGGAAGAGGGCGGGGCTCAGGATGCTCATAGGCTGGGGGCGGAGTTTTGTGTCCCAGACTCGGGATACGAAGGAGAGGAAACTAGGATTTCCAAATTCTGGAGCAGGACTGAAGTTATTTGGGGCAGGGAGCTTGGATTCGCAAGATATGGAATTCTGAAGTGCGGAAATATACTCCTAGGGGCTGAGTGGTCCTAGGCTCCCGGGCTGGAGGTGGGACCTGTGCTCCTTGGGTTAAGGGTGAAACCTCAGCTCCTACAAGCTGGGAGGAGCCCTGAGTAACGTTGGTCTGGCTCTAGGTGAGCGGTTCCGAGGAGGAGCTTGGGTTTCTAGGGGCTGGGCCTTTAAAGACTGGTAATTAGGACCCAGCGTGAGGTTTCCATTGGCCGGCTGGGATTCTGGGAGAAGAGACCTATATTCTAACGACTGGGGCAGAGCCCTGGGTTCTGAGCTGGAGAAAATCGTGGGTTTGATACAGACTGTACTCGGGACCGGGAACCTAGGGTTTGGGTAGAGGTGAGGCCTGTCCCCTTTGGGCTGGGGGCAGAACATGGGCTCAGAGTTGGGGGACTAAGGGCGGAGCCTGGGTCCCCACAAGCGGTCCGAAGTCCCCAGTAGTTCAGAGGCCTTTGCGCTGCCGCTTGAGGAAAGACAGAGTGTAGTCACTAGGGGTGGACACTTTCTGCTTCTTCATCTGCACTTGCGACTGTGCCGTGAGTTGCAGCTTGATGGCGCTCGAGTTGATCTTGGTGGCCACCAGCAGCTCCTTCATGCCCTTCATCTTCTCACTCTGGAAAGTGAGCACTGGACCCTCCGGCGGTGGTGATGCTGTGGGTGCTGGCACCTGAGCCGTGCTGCCACCTTCAGGGCCTCGGGCTGTGCCAGCGACAGTCCCAGGAGGCTTCCGGGGGGGTCCTGACACTGCACCCTGGCCGGTGCCCAGGCCCTTGTCCAGTGCTGGCTTCTTGGGCGGCGGGGGCTCCTCTGGCTTGGACTCCCGCCGTGGGCCCCGCCGCCGGCCTTCCCGGGCTTCCTCGCCCCACGGCTCCTCGGCCTCGGCCGCCTCGGCCTCTCGGCTCACTATGCGCACCTTCTGCCGCACCTGGGCCAGTGGGGAGAGCAAGGTGAGAGCAAGGTTGCCGGCCAGTGGCTGGAACTCCAGGACCCTGCTCTGGCCATCCCATCCCACCCAGGGGGTCTCAGTCCCATCGGCACCCAAGGGGATGGGCAGATGCTGCCCCTGGGCCAGAAAAGTCTGACAAGCCCGTGGCTGCTGTCACCACCTGTAGTGCCCAGACCTCTGTGCAGCTGTCCCTCACCTGTCCCTCAAAACGGCCTAGGGACTGCACAAGAAAGGTGGCCCAGCCCACATGCAGCACAGGCGTGGGACTGCCCTCCTCCCATTTGCAGATGCCGTCGTAGAATCGCAGCAGGTGGGCGAAGCACTCAGGGTCCTGGAGGGCGGAACCTTGGCTCTGGGTGCCCTGGACGAGGGGGAAGGGAGGGCACAGATCAGTCTCTTACTCACCCCTTAGCAGAGGGCACAGGCCAGGCCCCCCACCTAGGCAAAGACCCCTGGCTCCAGAAAAGGTAAGCATAGGTTGGGAACATTCTTAGAACCTCTTTCCTTTTATAAAGCCAATCCATAGCCAGGACGTACCATCCCTACCTCCACCCCTCAGCTGAGGGAGGGAGTCTGGCCATGAAACTGAAGGCACAGGGTAGAAACCTCTAAAATACCTTCAGTCCCGTCCAACGTGGGCCCAGGACCTCAGTTATAGCAAAAGGGAACATAGCTGTCTGCTCAGGGCCACCTTCCTCCTGCCATCCCTAATCCCGTACATGCAGCCCCCATGGCCTGTGGAAGGGAGCCCTGTCCAGGTGGGAGGCTGGACACAGGCTGGAGCTCCAGCCTTTCACCTGGCTTTGCTCCCCCGGCCGCTCCTCGCCCGCCTCCAGCAAGCTGGCTGCCTCCTTCAGCAGGTTGGGGATGACATCATTGGCTACTTCAAAGAACTCCTTGTAGATCTCCTCGTCTTCCCGGCAGTAGTTGTAGCTGTGAGAGCAGTGGGGTCTCTGTAGGGTCTGAAGGGGTCTCACCATCGGGGGTAGCCCCAGGGACCTGGCGGGGGATGGAGCCCCCAGGGGCTGGGGGAGTAGGTGGGGTCCTCACTGCAAAATGATGCTGTCTGGGTCAGCCCAGAGGAAGAAAGCAAGAATGAGGAGGGGGGCATGGGGCCGAGGGTGGAAGTCCCACTGCTGGATGATGGTGGTTAAACATTGGAGATTTGAGACTGTTCTGAGAAAAAAAAAATTAGGAGGAGAGGGGAGGGAGGGAAAGATGTGACACCTTAATCAGGGTCCCTACCTCCTGGGTAATGGTGGCCTTGCTGCCTAGGGACTGGATGGAAAGGGGATGGGGCGTGGGAGCCAGGCCTCAGTCCTGGACGAGGGTGGTTGGAAACTGATGGAGGGGAAGAAAGGACAGGCTGCAGGCCCTAGTAGGGGGATCCTCACTCCTGGATGACAGTGGCCGTGTCCGCCCAGGCCTGCAGGGCTTCCCGCACATTGCGGTTGCGACAGTGGTAGCCAGCCAGGTACATGTAGGGGTAGATGTGTTCATCCCGATAGTAGGTCTTGGCTGAGGCAATGCCCTGGATGGAGGTGAGGCAGAGGATCCTCAGGGAGGCAGCCCCAGCTGCCCTGCTGGCACAAATGCCCCACCAGGGCACACCCAGAAGGGGCCACAGGAAGATCCCAGGGAGTCCTCTCCATCTCCACTCCCACCTCCACTCGCTGCCAGCCCTTCTACCTGGTCTCCTCCCTGGGTCTACAGGACTGCTGGCTGAGGCCTGGGGCAGACTGCAGGGGTGGGGCCTGCCCTCCGAGCTCAGGGCCCTTCTCTTTCTCAGACACTCTTCTACACATCACCAAAGACTTTCAAGCCCAGCCCAATGGCCCTCCTCCCCACCTACACCCACCAAGTGAACACCCCCTCTTCATCAGTGCTCCTGCCACATTTGACCTCTGTTATACTCCAGGAAGGACAGTAAGCAGTGGCAGAAAAGGCAGGGCTGAGGGGACAAATGCAGCCCCTGCCACTCCCAGGCTGGGGAACCCTGGACACCCCTCAGACAGCCCTGACTGAACTGATTCTGCACACAGTTGACACAAAGTGAGACTGGATGGGCGATACCCCCCAACACACAAAGTTCTCTTCTCATCTGCCCAGATGAGGGCCCCTGCCTCAGCCACTGTTAGGGTCTCCCTTCTGCACCCTCCTTAGATGCCCCCACCTTGTGGTAGAGGGTGAGTGGGTCTGGCCGGCCAGGGGTGGGCTCCAGCTCCTCTAGATCTGCCAGGTTCCCTAAGGCCATGGGGTACCTAGGAAAGGATCATAATTCAGGCTGCCACCCAGCCCCCCGGCCTCACCAGGCGCAGCCTGGCCACTTCCCTCTAC | GCCCCCACGCGCTGCAGCAGCTCGAAGCGGTCCCGCGGGTCCTGCAGCGACACATCCCGCAGCAGCGCCATGGCCCGGCGCCGGGCGGGCCGGCAGGCGGGCGGGCGCGAGCTGCGGAGCCGGCGCGGGGCGGCGCGGGGCGGGGCGGGCGCCCGTGGCTCTGAGGCCGCGGGGGCGGGGCTGAGGCCCGGGGGCGGGGCCGCGCCGGGGATGCCCCACCGCCAGTCCGGGAGGAGGCGCCCGCGGGACGGGCCCTCGGCGGCGCGGGGAAGCCCCAAGGCCGGGGCGGAGCCTACGTCCTTCCGCCGCCACTGTCGCTCGCGCTCCACAGGTAGGGAGCGCAAAGTCCCGGGAGCCAGAAGACAGAGGGAAGAGGGGGCGCTCCACTCCCCGCCCCATCCCCAATTTCCCAGATAAACATGGACTTGCGCTTTATATTTTTTTTAACAAAATGTATTCATCTTTCTTGGAACTGAAAAATAAATCTATGTACAAAACAGGAAGAGATCAGGCTCTTGTCACCCACTCCTAACCCTCTGCAGATTTCCTCCGGGATGCTCCGAGATGGGCTGGACCTCTGGGAGGTTCCCAGAGGGTCGGAAGGGAGGTCCTGCTCTGATCCGGGGCCAGTTTCGTCAGGAAGAGGGCGGGGCTCAGGATGCTCATAGGCTGGGGGCGGAGTTTTGTGTCCCAGACTCGGGATACGAAGGAGAGGAAACTAGGATTTCCAAATTCTGGAGCAGGACTGAAGTTATTTGGGGCAGGGAGCTTGGATTCGCAAGATATGGAATTCTGAAGTGCGGAAATATACTCCTAGGGGCTGAGTGGTCCTAGGCTCCCGGGCTGGAGGTGGGACCTGTGCTCCTTGGGTTAAGGGTGAAACCTCAGCTCCTACAAGCTGGGAGGAGCCCTGAGTAACGTTGGTCTGGCTCTAGGTGAGCGGTTCCGAGGAGGAGCTTGGGTTTCTAGGGGCTGGGCCTTTAAAGACTGGTAATTAGGACCCAGCGTGAGGTTTCCATTGGCCGGCTGGGATTCTGGGAGAAGAGACCTATATTCTAACGACTGGGGCAGAGCCCTGGGTTCTGAGCTGGAGAAAATCGTGGGTTTGATACAGACTGTACTCGGGACCGGGAACCTAGGGTTTGGGTAGAGGTGAGGCCTGTCCCCTTTGGGCTGGGGGCAGAACATGGGCTCAGAGTTGGGGGACTAAGGGCGGAGCCTGGGTCCCCACAAGCGGTCCGAAGTCCCCAGTAGTTCAGAGGCCTTTGCGCTGCCGCTTGAGGAAAGACAGAGTGTAGTCACTAGGGGTGGACACTTTCTGCTTCTTCATCTGCACTTGCGACTGTGCCGTGAGTTGCAGCTTGATGGCGCTCGAGTTGATCTTGGTGGCCACCAGCAGCTCCTTCATGCCCTTCATCTTCTCACTCTGGAAAGTGAGCACTGGACCCTCCGGCGGTGGTGATGCTGTGGGTGCTGGCACCTGAGCCGTGCTGCCACCTTCAGGGCCTCGGGCTGTGCCAGCGACAGTCCCAGGAGGCTTCCGGGGGGGTCCTGACACTGCACCCTGGCCGGTGCCCAGGCCCTTGTCCAGTGCTGGCTTCTTGGGCGGCGGGGGCTCCTCTGGCTTGGACTCCCGCCGTGGGCCCCGCCGCCGGCCTTCCCGGGCTTCCTCGCCCCACGGCTCCTCGGCCTCGGCCGCCTCGGCCTCTCGGCTCACTATGCGCACCTTCTGCCGCACCTGGGCCAGTGGGGAGAGCAAGGTGAGAGCAAGGTTGCCGGCCAGTGGCTGGAACTCCAGGACCCTGCTCTGGCCATCCCATCCCACCCAGGGGGTCTCAGTCCCATCGGCACCCAAGGGGATGGGCAGATGCTGCCCCTGGGCCAGAAAAGTCTGACAAGCCCGTGGCTGCTGTCACCACCTGTAGTGCCCAGACCTCTGTGCAGCTGTCCCTCACCTGTCCCTCAAAACGGCCTAGGGACTGCACAAGAAAGGTGGCCCAGCCCACATGCAGCACAGGCGTGGGACTGCCCTCCTCCCATTTGCAGATGCGTAGAATCGCAGCAGGTGGGCGAAGCACTCAGGGTCCTGGAGGGCGGAACCTTGGCTCTGGGTGCCCTGGACGAGGGGGAAGGGAGGGCACAGATCAGTCTCTTACTCACCCCTTAGCAGAGGGCACAGGCCAGGCCCCCCACCTAGGCAAAGACCCCTGGCTCCAGAAAAGGTAAGCATAGGTTGGGAACATTCTTAGAACCTCTTTCCTTTTATAAAGCCAATCCATAGCCAGGACGTACCATCCCTACCTCCACCCCTCAGCTGAGGGAGGGAGTCTGGCCATGAAACTGAAGGCACAGGGTAGAAACCTCTAAAATACCTTCAGTCCCGTCCAACGTGGGCCCAGGACCTCAGTTATAGCAAAAGGGAACATAGCTGTCTGCTCAGGGCCACCTTCCTCCTGCCATCCCTAATCCCGTACATGCAGCCCCCATGGCCTGTGGAAGGGAGCCCTGTCCAGGTGGGAGGCTGGACACAGGCTGGAGCTCCAGCCTTTCACCTGGCTTTGCTCCCCCGGCCGCTCCTCGCCCGCCTCCAGCAAGCTGGCTGCCTCCTTCAGCAGGTTGGGGATGACATCATTGGCTACTTCAAAGAACTCCTTGTAGATCTCCTCGTCTTCCCGGCAGTAGTTGTAGCTGTGAGAGCAGTGGGGTCTCTGTAGGGTCTGAAGGGGTCTCACCATCGGGGGTAGCCCCAGGGACCTGGCGGGGGATGGAGCCCCCAGGGGCTGGGGGAGTAGGTGGGGTCCTCACTGCAAAATGATGCTGTCTGGGTCAGCCCAGAGGAAGAAAGCAAGAATGAGGAGGGGGGCATGGGGCCGAGGGTGGAAGTCCCACTGCTGGATGATGGTGGTTAAACATTGGAGATTTGAGACTGTTCTGAGAAAAAAAAAATTAGGAGGAGAGGGGAGGGAGGGAAAGATGTGACACCTTAATCAGGGTCCCTACCTCCTGGGTAATGGTGGCCTTGCTGCCTAGGGACTGGATGGAAAGGGGATGGGGCGTGGGAGCCAGGCCTCAGTCCTGGACGAGGGTGGTTGGAAACTGATGGAGGGGAAGAAAGGACAGGCTGCAGGCCCTAGTAGGGGGATCCTCACTCCTGGATGACAGTGGCCGTGTCCGCCCAGGCCTGCAGGGCTTCCCGCACATTGCGGTTGCGACAGTGGTAGCCAGCCAGGTACATGTAGGGGTAGATGTGTTCATCCCGATAGTAGGTCTTGGCTGAGGCAATGCCCTGGATGGAGGTGAGGCAGAGGATCCTCAGGGAGGCAGCCCCAGCTGCCCTGCTGGCACAAATGCCCCACCAGGGCACACCCAGAAGGGGCCACAGGAAGATCCCAGGGAGTCCTCTCCATCTCCACTCCCACCTCCACTCGCTGCCAGCCCTTCTACCTGGTCTCCTCCCTGGGTCTACAGGACTGCTGGCTGAGGCCTGGGGCAGACTGCAGGGGTGGGGCCTGCCCTCCGAGCTCAGGGCCCTTCTCTTTCTCAGACACTCTTCTACACATCACCAAAGACTTTCAAGCCCAGCCCAATGGCCCTCCTCCCCACCTACACCCACCAAGTGAACACCCCCTCTTCATCAGTGCTCCTGCCACATTTGACCTCTGTTATACTCCAGGAAGGACAGTAAGCAGTGGCAGAAAAGGCAGGGCTGAGGGGACAAATGCAGCCCCTGCCACTCCCAGGCTGGGGAACCCTGGACACCCCTCAGACAGCCCTGACTGAACTGATTCTGCACACAGTTGACACAAAGTGAGACTGGATGGGCGATACCCCCCAACACACAAAGTTCTCTTCTCATCTGCCCAGATGAGGGCCCCTGCCTCAGCCACTGTTAGGGTCTCCCTTCTGCACCCTCCTTAGATGCCCCCACCTTGTGGTAGAGGGTGAGTGGGTCTGGCCGGCCAGGGGTGGGCTCCAGCTCCTCTAGATCTGCCAGGTTCCCTAAGGCCATGGGGTACCTAGGAAAGGATCATAATTCAGGCTGCCACCCAGCCCCCCGGCCTCACCAGGCGCAGCCTGGCCACTTCCCTCTACNNNN | pathogenic | 177,698 |
Is the genetic mutation found on chromosome 11 at position 64805129, within the gene MEN1 (menin 1), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Multiple_endocrine_neoplasia,_type_1'] | CCCCACGCGCTGCAGCAGCTCGAAGCGGTCCCGCGGGTCCTGCAGCGACACATCCCGCAGCAGCGCCATGGCCCGGCGCCGGGCGGGCCGGCAGGCGGGCGGGCGCGAGCTGCGGAGCCGGCGCGGGGCGGCGCGGGGCGGGGCGGGCGCCCGTGGCTCTGAGGCCGCGGGGGCGGGGCTGAGGCCCGGGGGCGGGGCCGCGCCGGGGATGCCCCACCGCCAGTCCGGGAGGAGGCGCCCGCGGGACGGGCCCTCGGCGGCGCGGGGAAGCCCCAAGGCCGGGGCGGAGCCTACGTCCTTCCGCCGCCACTGTCGCTCGCGCTCCACAGGTAGGGAGCGCAAAGTCCCGGGAGCCAGAAGACAGAGGGAAGAGGGGGCGCTCCACTCCCCGCCCCATCCCCAATTTCCCAGATAAACATGGACTTGCGCTTTATATTTTTTTTAACAAAATGTATTCATCTTTCTTGGAACTGAAAAATAAATCTATGTACAAAACAGGAAGAGATCAGGCTCTTGTCACCCACTCCTAACCCTCTGCAGATTTCCTCCGGGATGCTCCGAGATGGGCTGGACCTCTGGGAGGTTCCCAGAGGGTCGGAAGGGAGGTCCTGCTCTGATCCGGGGCCAGTTTCGTCAGGAAGAGGGCGGGGCTCAGGATGCTCATAGGCTGGGGGCGGAGTTTTGTGTCCCAGACTCGGGATACGAAGGAGAGGAAACTAGGATTTCCAAATTCTGGAGCAGGACTGAAGTTATTTGGGGCAGGGAGCTTGGATTCGCAAGATATGGAATTCTGAAGTGCGGAAATATACTCCTAGGGGCTGAGTGGTCCTAGGCTCCCGGGCTGGAGGTGGGACCTGTGCTCCTTGGGTTAAGGGTGAAACCTCAGCTCCTACAAGCTGGGAGGAGCCCTGAGTAACGTTGGTCTGGCTCTAGGTGAGCGGTTCCGAGGAGGAGCTTGGGTTTCTAGGGGCTGGGCCTTTAAAGACTGGTAATTAGGACCCAGCGTGAGGTTTCCATTGGCCGGCTGGGATTCTGGGAGAAGAGACCTATATTCTAACGACTGGGGCAGAGCCCTGGGTTCTGAGCTGGAGAAAATCGTGGGTTTGATACAGACTGTACTCGGGACCGGGAACCTAGGGTTTGGGTAGAGGTGAGGCCTGTCCCCTTTGGGCTGGGGGCAGAACATGGGCTCAGAGTTGGGGGACTAAGGGCGGAGCCTGGGTCCCCACAAGCGGTCCGAAGTCCCCAGTAGTTCAGAGGCCTTTGCGCTGCCGCTTGAGGAAAGACAGAGTGTAGTCACTAGGGGTGGACACTTTCTGCTTCTTCATCTGCACTTGCGACTGTGCCGTGAGTTGCAGCTTGATGGCGCTCGAGTTGATCTTGGTGGCCACCAGCAGCTCCTTCATGCCCTTCATCTTCTCACTCTGGAAAGTGAGCACTGGACCCTCCGGCGGTGGTGATGCTGTGGGTGCTGGCACCTGAGCCGTGCTGCCACCTTCAGGGCCTCGGGCTGTGCCAGCGACAGTCCCAGGAGGCTTCCGGGGGGGTCCTGACACTGCACCCTGGCCGGTGCCCAGGCCCTTGTCCAGTGCTGGCTTCTTGGGCGGCGGGGGCTCCTCTGGCTTGGACTCCCGCCGTGGGCCCCGCCGCCGGCCTTCCCGGGCTTCCTCGCCCCACGGCTCCTCGGCCTCGGCCGCCTCGGCCTCTCGGCTCACTATGCGCACCTTCTGCCGCACCTGGGCCAGTGGGGAGAGCAAGGTGAGAGCAAGGTTGCCGGCCAGTGGCTGGAACTCCAGGACCCTGCTCTGGCCATCCCATCCCACCCAGGGGGTCTCAGTCCCATCGGCACCCAAGGGGATGGGCAGATGCTGCCCCTGGGCCAGAAAAGTCTGACAAGCCCGTGGCTGCTGTCACCACCTGTAGTGCCCAGACCTCTGTGCAGCTGTCCCTCACCTGTCCCTCAAAACGGCCTAGGGACTGCACAAGAAAGGTGGCCCAGCCCACATGCAGCACAGGCGTGGGACTGCCCTCCTCCCATTTGCAGATGCCGTCGTAGAATCGCAGCAGGTGGGCGAAGCACTCAGGGTCCTGGAGGGCGGAACCTTGGCTCTGGGTGCCCTGGACGAGGGGGAAGGGAGGGCACAGATCAGTCTCTTACTCACCCCTTAGCAGAGGGCACAGGCCAGGCCCCCCACCTAGGCAAAGACCCCTGGCTCCAGAAAAGGTAAGCATAGGTTGGGAACATTCTTAGAACCTCTTTCCTTTTATAAAGCCAATCCATAGCCAGGACGTACCATCCCTACCTCCACCCCTCAGCTGAGGGAGGGAGTCTGGCCATGAAACTGAAGGCACAGGGTAGAAACCTCTAAAATACCTTCAGTCCCGTCCAACGTGGGCCCAGGACCTCAGTTATAGCAAAAGGGAACATAGCTGTCTGCTCAGGGCCACCTTCCTCCTGCCATCCCTAATCCCGTACATGCAGCCCCCATGGCCTGTGGAAGGGAGCCCTGTCCAGGTGGGAGGCTGGACACAGGCTGGAGCTCCAGCCTTTCACCTGGCTTTGCTCCCCCGGCCGCTCCTCGCCCGCCTCCAGCAAGCTGGCTGCCTCCTTCAGCAGGTTGGGGATGACATCATTGGCTACTTCAAAGAACTCCTTGTAGATCTCCTCGTCTTCCCGGCAGTAGTTGTAGCTGTGAGAGCAGTGGGGTCTCTGTAGGGTCTGAAGGGGTCTCACCATCGGGGGTAGCCCCAGGGACCTGGCGGGGGATGGAGCCCCCAGGGGCTGGGGGAGTAGGTGGGGTCCTCACTGCAAAATGATGCTGTCTGGGTCAGCCCAGAGGAAGAAAGCAAGAATGAGGAGGGGGGCATGGGGCCGAGGGTGGAAGTCCCACTGCTGGATGATGGTGGTTAAACATTGGAGATTTGAGACTGTTCTGAGAAAAAAAAAATTAGGAGGAGAGGGGAGGGAGGGAAAGATGTGACACCTTAATCAGGGTCCCTACCTCCTGGGTAATGGTGGCCTTGCTGCCTAGGGACTGGATGGAAAGGGGATGGGGCGTGGGAGCCAGGCCTCAGTCCTGGACGAGGGTGGTTGGAAACTGATGGAGGGGAAGAAAGGACAGGCTGCAGGCCCTAGTAGGGGGATCCTCACTCCTGGATGACAGTGGCCGTGTCCGCCCAGGCCTGCAGGGCTTCCCGCACATTGCGGTTGCGACAGTGGTAGCCAGCCAGGTACATGTAGGGGTAGATGTGTTCATCCCGATAGTAGGTCTTGGCTGAGGCAATGCCCTGGATGGAGGTGAGGCAGAGGATCCTCAGGGAGGCAGCCCCAGCTGCCCTGCTGGCACAAATGCCCCACCAGGGCACACCCAGAAGGGGCCACAGGAAGATCCCAGGGAGTCCTCTCCATCTCCACTCCCACCTCCACTCGCTGCCAGCCCTTCTACCTGGTCTCCTCCCTGGGTCTACAGGACTGCTGGCTGAGGCCTGGGGCAGACTGCAGGGGTGGGGCCTGCCCTCCGAGCTCAGGGCCCTTCTCTTTCTCAGACACTCTTCTACACATCACCAAAGACTTTCAAGCCCAGCCCAATGGCCCTCCTCCCCACCTACACCCACCAAGTGAACACCCCCTCTTCATCAGTGCTCCTGCCACATTTGACCTCTGTTATACTCCAGGAAGGACAGTAAGCAGTGGCAGAAAAGGCAGGGCTGAGGGGACAAATGCAGCCCCTGCCACTCCCAGGCTGGGGAACCCTGGACACCCCTCAGACAGCCCTGACTGAACTGATTCTGCACACAGTTGACACAAAGTGAGACTGGATGGGCGATACCCCCCAACACACAAAGTTCTCTTCTCATCTGCCCAGATGAGGGCCCCTGCCTCAGCCACTGTTAGGGTCTCCCTTCTGCACCCTCCTTAGATGCCCCCACCTTGTGGTAGAGGGTGAGTGGGTCTGGCCGGCCAGGGGTGGGCTCCAGCTCCTCTAGATCTGCCAGGTTCCCTAAGGCCATGGGGTACCTAGGAAAGGATCATAATTCAGGCTGCCACCCAGCCCCCCGGCCTCACCAGGCGCAGCCTGGCCACTTCCCTCTACTG | CCCCACGCGCTGCAGCAGCTCGAAGCGGTCCCGCGGGTCCTGCAGCGACACATCCCGCAGCAGCGCCATGGCCCGGCGCCGGGCGGGCCGGCAGGCGGGCGGGCGCGAGCTGCGGAGCCGGCGCGGGGCGGCGCGGGGCGGGGCGGGCGCCCGTGGCTCTGAGGCCGCGGGGGCGGGGCTGAGGCCCGGGGGCGGGGCCGCGCCGGGGATGCCCCACCGCCAGTCCGGGAGGAGGCGCCCGCGGGACGGGCCCTCGGCGGCGCGGGGAAGCCCCAAGGCCGGGGCGGAGCCTACGTCCTTCCGCCGCCACTGTCGCTCGCGCTCCACAGGTAGGGAGCGCAAAGTCCCGGGAGCCAGAAGACAGAGGGAAGAGGGGGCGCTCCACTCCCCGCCCCATCCCCAATTTCCCAGATAAACATGGACTTGCGCTTTATATTTTTTTTAACAAAATGTATTCATCTTTCTTGGAACTGAAAAATAAATCTATGTACAAAACAGGAAGAGATCAGGCTCTTGTCACCCACTCCTAACCCTCTGCAGATTTCCTCCGGGATGCTCCGAGATGGGCTGGACCTCTGGGAGGTTCCCAGAGGGTCGGAAGGGAGGTCCTGCTCTGATCCGGGGCCAGTTTCGTCAGGAAGAGGGCGGGGCTCAGGATGCTCATAGGCTGGGGGCGGAGTTTTGTGTCCCAGACTCGGGATACGAAGGAGAGGAAACTAGGATTTCCAAATTCTGGAGCAGGACTGAAGTTATTTGGGGCAGGGAGCTTGGATTCGCAAGATATGGAATTCTGAAGTGCGGAAATATACTCCTAGGGGCTGAGTGGTCCTAGGCTCCCGGGCTGGAGGTGGGACCTGTGCTCCTTGGGTTAAGGGTGAAACCTCAGCTCCTACAAGCTGGGAGGAGCCCTGAGTAACGTTGGTCTGGCTCTAGGTGAGCGGTTCCGAGGAGGAGCTTGGGTTTCTAGGGGCTGGGCCTTTAAAGACTGGTAATTAGGACCCAGCGTGAGGTTTCCATTGGCCGGCTGGGATTCTGGGAGAAGAGACCTATATTCTAACGACTGGGGCAGAGCCCTGGGTTCTGAGCTGGAGAAAATCGTGGGTTTGATACAGACTGTACTCGGGACCGGGAACCTAGGGTTTGGGTAGAGGTGAGGCCTGTCCCCTTTGGGCTGGGGGCAGAACATGGGCTCAGAGTTGGGGGACTAAGGGCGGAGCCTGGGTCCCCACAAGCGGTCCGAAGTCCCCAGTAGTTCAGAGGCCTTTGCGCTGCCGCTTGAGGAAAGACAGAGTGTAGTCACTAGGGGTGGACACTTTCTGCTTCTTCATCTGCACTTGCGACTGTGCCGTGAGTTGCAGCTTGATGGCGCTCGAGTTGATCTTGGTGGCCACCAGCAGCTCCTTCATGCCCTTCATCTTCTCACTCTGGAAAGTGAGCACTGGACCCTCCGGCGGTGGTGATGCTGTGGGTGCTGGCACCTGAGCCGTGCTGCCACCTTCAGGGCCTCGGGCTGTGCCAGCGACAGTCCCAGGAGGCTTCCGGGGGGGTCCTGACACTGCACCCTGGCCGGTGCCCAGGCCCTTGTCCAGTGCTGGCTTCTTGGGCGGCGGGGGCTCCTCTGGCTTGGACTCCCGCCGTGGGCCCCGCCGCCGGCCTTCCCGGGCTTCCTCGCCCCACGGCTCCTCGGCCTCGGCCGCCTCGGCCTCTCGGCTCACTATGCGCACCTTCTGCCGCACCTGGGCCAGTGGGGAGAGCAAGGTGAGAGCAAGGTTGCCGGCCAGTGGCTGGAACTCCAGGACCCTGCTCTGGCCATCCCATCCCACCCAGGGGGTCTCAGTCCCATCGGCACCCAAGGGGATGGGCAGATGCTGCCCCTGGGCCAGAAAAGTCTGACAAGCCCGTGGCTGCTGTCACCACCTGTAGTGCCCAGACCTCTGTGCAGCTGTCCCTCACCTGTCCCTCAAAACGGCCTAGGGACTGCACAAGAAAGGTGGCCCAGCCCACATGCAGCACAGGCGTGGGACTGCCCTCCTCCCATTTGCAGATGCCATCGCAGCAGGTGGGCGAAGCACTCAGGGTCCTGGAGGGCGGAACCTTGGCTCTGGGTGCCCTGGACGAGGGGGAAGGGAGGGCACAGATCAGTCTCTTACTCACCCCTTAGCAGAGGGCACAGGCCAGGCCCCCCACCTAGGCAAAGACCCCTGGCTCCAGAAAAGGTAAGCATAGGTTGGGAACATTCTTAGAACCTCTTTCCTTTTATAAAGCCAATCCATAGCCAGGACGTACCATCCCTACCTCCACCCCTCAGCTGAGGGAGGGAGTCTGGCCATGAAACTGAAGGCACAGGGTAGAAACCTCTAAAATACCTTCAGTCCCGTCCAACGTGGGCCCAGGACCTCAGTTATAGCAAAAGGGAACATAGCTGTCTGCTCAGGGCCACCTTCCTCCTGCCATCCCTAATCCCGTACATGCAGCCCCCATGGCCTGTGGAAGGGAGCCCTGTCCAGGTGGGAGGCTGGACACAGGCTGGAGCTCCAGCCTTTCACCTGGCTTTGCTCCCCCGGCCGCTCCTCGCCCGCCTCCAGCAAGCTGGCTGCCTCCTTCAGCAGGTTGGGGATGACATCATTGGCTACTTCAAAGAACTCCTTGTAGATCTCCTCGTCTTCCCGGCAGTAGTTGTAGCTGTGAGAGCAGTGGGGTCTCTGTAGGGTCTGAAGGGGTCTCACCATCGGGGGTAGCCCCAGGGACCTGGCGGGGGATGGAGCCCCCAGGGGCTGGGGGAGTAGGTGGGGTCCTCACTGCAAAATGATGCTGTCTGGGTCAGCCCAGAGGAAGAAAGCAAGAATGAGGAGGGGGGCATGGGGCCGAGGGTGGAAGTCCCACTGCTGGATGATGGTGGTTAAACATTGGAGATTTGAGACTGTTCTGAGAAAAAAAAAATTAGGAGGAGAGGGGAGGGAGGGAAAGATGTGACACCTTAATCAGGGTCCCTACCTCCTGGGTAATGGTGGCCTTGCTGCCTAGGGACTGGATGGAAAGGGGATGGGGCGTGGGAGCCAGGCCTCAGTCCTGGACGAGGGTGGTTGGAAACTGATGGAGGGGAAGAAAGGACAGGCTGCAGGCCCTAGTAGGGGGATCCTCACTCCTGGATGACAGTGGCCGTGTCCGCCCAGGCCTGCAGGGCTTCCCGCACATTGCGGTTGCGACAGTGGTAGCCAGCCAGGTACATGTAGGGGTAGATGTGTTCATCCCGATAGTAGGTCTTGGCTGAGGCAATGCCCTGGATGGAGGTGAGGCAGAGGATCCTCAGGGAGGCAGCCCCAGCTGCCCTGCTGGCACAAATGCCCCACCAGGGCACACCCAGAAGGGGCCACAGGAAGATCCCAGGGAGTCCTCTCCATCTCCACTCCCACCTCCACTCGCTGCCAGCCCTTCTACCTGGTCTCCTCCCTGGGTCTACAGGACTGCTGGCTGAGGCCTGGGGCAGACTGCAGGGGTGGGGCCTGCCCTCCGAGCTCAGGGCCCTTCTCTTTCTCAGACACTCTTCTACACATCACCAAAGACTTTCAAGCCCAGCCCAATGGCCCTCCTCCCCACCTACACCCACCAAGTGAACACCCCCTCTTCATCAGTGCTCCTGCCACATTTGACCTCTGTTATACTCCAGGAAGGACAGTAAGCAGTGGCAGAAAAGGCAGGGCTGAGGGGACAAATGCAGCCCCTGCCACTCCCAGGCTGGGGAACCCTGGACACCCCTCAGACAGCCCTGACTGAACTGATTCTGCACACAGTTGACACAAAGTGAGACTGGATGGGCGATACCCCCCAACACACAAAGTTCTCTTCTCATCTGCCCAGATGAGGGCCCCTGCCTCAGCCACTGTTAGGGTCTCCCTTCTGCACCCTCCTTAGATGCCCCCACCTTGTGGTAGAGGGTGAGTGGGTCTGGCCGGCCAGGGGTGGGCTCCAGCTCCTCTAGATCTGCCAGGTTCCCTAAGGCCATGGGGTACCTAGGAAAGGATCATAATTCAGGCTGCCACCCAGCCCCCCGGCCTCACCAGGCGCAGCCTGGCCACTTCCCTCTACTGNNNNNNNN | pathogenic | 177,699 |
Is chromosome 11, position 64805130, gene MEN1 (menin 1) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Multiple_endocrine_neoplasia,_type_1'] | CCCACGCGCTGCAGCAGCTCGAAGCGGTCCCGCGGGTCCTGCAGCGACACATCCCGCAGCAGCGCCATGGCCCGGCGCCGGGCGGGCCGGCAGGCGGGCGGGCGCGAGCTGCGGAGCCGGCGCGGGGCGGCGCGGGGCGGGGCGGGCGCCCGTGGCTCTGAGGCCGCGGGGGCGGGGCTGAGGCCCGGGGGCGGGGCCGCGCCGGGGATGCCCCACCGCCAGTCCGGGAGGAGGCGCCCGCGGGACGGGCCCTCGGCGGCGCGGGGAAGCCCCAAGGCCGGGGCGGAGCCTACGTCCTTCCGCCGCCACTGTCGCTCGCGCTCCACAGGTAGGGAGCGCAAAGTCCCGGGAGCCAGAAGACAGAGGGAAGAGGGGGCGCTCCACTCCCCGCCCCATCCCCAATTTCCCAGATAAACATGGACTTGCGCTTTATATTTTTTTTAACAAAATGTATTCATCTTTCTTGGAACTGAAAAATAAATCTATGTACAAAACAGGAAGAGATCAGGCTCTTGTCACCCACTCCTAACCCTCTGCAGATTTCCTCCGGGATGCTCCGAGATGGGCTGGACCTCTGGGAGGTTCCCAGAGGGTCGGAAGGGAGGTCCTGCTCTGATCCGGGGCCAGTTTCGTCAGGAAGAGGGCGGGGCTCAGGATGCTCATAGGCTGGGGGCGGAGTTTTGTGTCCCAGACTCGGGATACGAAGGAGAGGAAACTAGGATTTCCAAATTCTGGAGCAGGACTGAAGTTATTTGGGGCAGGGAGCTTGGATTCGCAAGATATGGAATTCTGAAGTGCGGAAATATACTCCTAGGGGCTGAGTGGTCCTAGGCTCCCGGGCTGGAGGTGGGACCTGTGCTCCTTGGGTTAAGGGTGAAACCTCAGCTCCTACAAGCTGGGAGGAGCCCTGAGTAACGTTGGTCTGGCTCTAGGTGAGCGGTTCCGAGGAGGAGCTTGGGTTTCTAGGGGCTGGGCCTTTAAAGACTGGTAATTAGGACCCAGCGTGAGGTTTCCATTGGCCGGCTGGGATTCTGGGAGAAGAGACCTATATTCTAACGACTGGGGCAGAGCCCTGGGTTCTGAGCTGGAGAAAATCGTGGGTTTGATACAGACTGTACTCGGGACCGGGAACCTAGGGTTTGGGTAGAGGTGAGGCCTGTCCCCTTTGGGCTGGGGGCAGAACATGGGCTCAGAGTTGGGGGACTAAGGGCGGAGCCTGGGTCCCCACAAGCGGTCCGAAGTCCCCAGTAGTTCAGAGGCCTTTGCGCTGCCGCTTGAGGAAAGACAGAGTGTAGTCACTAGGGGTGGACACTTTCTGCTTCTTCATCTGCACTTGCGACTGTGCCGTGAGTTGCAGCTTGATGGCGCTCGAGTTGATCTTGGTGGCCACCAGCAGCTCCTTCATGCCCTTCATCTTCTCACTCTGGAAAGTGAGCACTGGACCCTCCGGCGGTGGTGATGCTGTGGGTGCTGGCACCTGAGCCGTGCTGCCACCTTCAGGGCCTCGGGCTGTGCCAGCGACAGTCCCAGGAGGCTTCCGGGGGGGTCCTGACACTGCACCCTGGCCGGTGCCCAGGCCCTTGTCCAGTGCTGGCTTCTTGGGCGGCGGGGGCTCCTCTGGCTTGGACTCCCGCCGTGGGCCCCGCCGCCGGCCTTCCCGGGCTTCCTCGCCCCACGGCTCCTCGGCCTCGGCCGCCTCGGCCTCTCGGCTCACTATGCGCACCTTCTGCCGCACCTGGGCCAGTGGGGAGAGCAAGGTGAGAGCAAGGTTGCCGGCCAGTGGCTGGAACTCCAGGACCCTGCTCTGGCCATCCCATCCCACCCAGGGGGTCTCAGTCCCATCGGCACCCAAGGGGATGGGCAGATGCTGCCCCTGGGCCAGAAAAGTCTGACAAGCCCGTGGCTGCTGTCACCACCTGTAGTGCCCAGACCTCTGTGCAGCTGTCCCTCACCTGTCCCTCAAAACGGCCTAGGGACTGCACAAGAAAGGTGGCCCAGCCCACATGCAGCACAGGCGTGGGACTGCCCTCCTCCCATTTGCAGATGCCGTCGTAGAATCGCAGCAGGTGGGCGAAGCACTCAGGGTCCTGGAGGGCGGAACCTTGGCTCTGGGTGCCCTGGACGAGGGGGAAGGGAGGGCACAGATCAGTCTCTTACTCACCCCTTAGCAGAGGGCACAGGCCAGGCCCCCCACCTAGGCAAAGACCCCTGGCTCCAGAAAAGGTAAGCATAGGTTGGGAACATTCTTAGAACCTCTTTCCTTTTATAAAGCCAATCCATAGCCAGGACGTACCATCCCTACCTCCACCCCTCAGCTGAGGGAGGGAGTCTGGCCATGAAACTGAAGGCACAGGGTAGAAACCTCTAAAATACCTTCAGTCCCGTCCAACGTGGGCCCAGGACCTCAGTTATAGCAAAAGGGAACATAGCTGTCTGCTCAGGGCCACCTTCCTCCTGCCATCCCTAATCCCGTACATGCAGCCCCCATGGCCTGTGGAAGGGAGCCCTGTCCAGGTGGGAGGCTGGACACAGGCTGGAGCTCCAGCCTTTCACCTGGCTTTGCTCCCCCGGCCGCTCCTCGCCCGCCTCCAGCAAGCTGGCTGCCTCCTTCAGCAGGTTGGGGATGACATCATTGGCTACTTCAAAGAACTCCTTGTAGATCTCCTCGTCTTCCCGGCAGTAGTTGTAGCTGTGAGAGCAGTGGGGTCTCTGTAGGGTCTGAAGGGGTCTCACCATCGGGGGTAGCCCCAGGGACCTGGCGGGGGATGGAGCCCCCAGGGGCTGGGGGAGTAGGTGGGGTCCTCACTGCAAAATGATGCTGTCTGGGTCAGCCCAGAGGAAGAAAGCAAGAATGAGGAGGGGGGCATGGGGCCGAGGGTGGAAGTCCCACTGCTGGATGATGGTGGTTAAACATTGGAGATTTGAGACTGTTCTGAGAAAAAAAAAATTAGGAGGAGAGGGGAGGGAGGGAAAGATGTGACACCTTAATCAGGGTCCCTACCTCCTGGGTAATGGTGGCCTTGCTGCCTAGGGACTGGATGGAAAGGGGATGGGGCGTGGGAGCCAGGCCTCAGTCCTGGACGAGGGTGGTTGGAAACTGATGGAGGGGAAGAAAGGACAGGCTGCAGGCCCTAGTAGGGGGATCCTCACTCCTGGATGACAGTGGCCGTGTCCGCCCAGGCCTGCAGGGCTTCCCGCACATTGCGGTTGCGACAGTGGTAGCCAGCCAGGTACATGTAGGGGTAGATGTGTTCATCCCGATAGTAGGTCTTGGCTGAGGCAATGCCCTGGATGGAGGTGAGGCAGAGGATCCTCAGGGAGGCAGCCCCAGCTGCCCTGCTGGCACAAATGCCCCACCAGGGCACACCCAGAAGGGGCCACAGGAAGATCCCAGGGAGTCCTCTCCATCTCCACTCCCACCTCCACTCGCTGCCAGCCCTTCTACCTGGTCTCCTCCCTGGGTCTACAGGACTGCTGGCTGAGGCCTGGGGCAGACTGCAGGGGTGGGGCCTGCCCTCCGAGCTCAGGGCCCTTCTCTTTCTCAGACACTCTTCTACACATCACCAAAGACTTTCAAGCCCAGCCCAATGGCCCTCCTCCCCACCTACACCCACCAAGTGAACACCCCCTCTTCATCAGTGCTCCTGCCACATTTGACCTCTGTTATACTCCAGGAAGGACAGTAAGCAGTGGCAGAAAAGGCAGGGCTGAGGGGACAAATGCAGCCCCTGCCACTCCCAGGCTGGGGAACCCTGGACACCCCTCAGACAGCCCTGACTGAACTGATTCTGCACACAGTTGACACAAAGTGAGACTGGATGGGCGATACCCCCCAACACACAAAGTTCTCTTCTCATCTGCCCAGATGAGGGCCCCTGCCTCAGCCACTGTTAGGGTCTCCCTTCTGCACCCTCCTTAGATGCCCCCACCTTGTGGTAGAGGGTGAGTGGGTCTGGCCGGCCAGGGGTGGGCTCCAGCTCCTCTAGATCTGCCAGGTTCCCTAAGGCCATGGGGTACCTAGGAAAGGATCATAATTCAGGCTGCCACCCAGCCCCCCGGCCTCACCAGGCGCAGCCTGGCCACTTCCCTCTACTGA | CCCACGCGCTGCAGCAGCTCGAAGCGGTCCCGCGGGTCCTGCAGCGACACATCCCGCAGCAGCGCCATGGCCCGGCGCCGGGCGGGCCGGCAGGCGGGCGGGCGCGAGCTGCGGAGCCGGCGCGGGGCGGCGCGGGGCGGGGCGGGCGCCCGTGGCTCTGAGGCCGCGGGGGCGGGGCTGAGGCCCGGGGGCGGGGCCGCGCCGGGGATGCCCCACCGCCAGTCCGGGAGGAGGCGCCCGCGGGACGGGCCCTCGGCGGCGCGGGGAAGCCCCAAGGCCGGGGCGGAGCCTACGTCCTTCCGCCGCCACTGTCGCTCGCGCTCCACAGGTAGGGAGCGCAAAGTCCCGGGAGCCAGAAGACAGAGGGAAGAGGGGGCGCTCCACTCCCCGCCCCATCCCCAATTTCCCAGATAAACATGGACTTGCGCTTTATATTTTTTTTAACAAAATGTATTCATCTTTCTTGGAACTGAAAAATAAATCTATGTACAAAACAGGAAGAGATCAGGCTCTTGTCACCCACTCCTAACCCTCTGCAGATTTCCTCCGGGATGCTCCGAGATGGGCTGGACCTCTGGGAGGTTCCCAGAGGGTCGGAAGGGAGGTCCTGCTCTGATCCGGGGCCAGTTTCGTCAGGAAGAGGGCGGGGCTCAGGATGCTCATAGGCTGGGGGCGGAGTTTTGTGTCCCAGACTCGGGATACGAAGGAGAGGAAACTAGGATTTCCAAATTCTGGAGCAGGACTGAAGTTATTTGGGGCAGGGAGCTTGGATTCGCAAGATATGGAATTCTGAAGTGCGGAAATATACTCCTAGGGGCTGAGTGGTCCTAGGCTCCCGGGCTGGAGGTGGGACCTGTGCTCCTTGGGTTAAGGGTGAAACCTCAGCTCCTACAAGCTGGGAGGAGCCCTGAGTAACGTTGGTCTGGCTCTAGGTGAGCGGTTCCGAGGAGGAGCTTGGGTTTCTAGGGGCTGGGCCTTTAAAGACTGGTAATTAGGACCCAGCGTGAGGTTTCCATTGGCCGGCTGGGATTCTGGGAGAAGAGACCTATATTCTAACGACTGGGGCAGAGCCCTGGGTTCTGAGCTGGAGAAAATCGTGGGTTTGATACAGACTGTACTCGGGACCGGGAACCTAGGGTTTGGGTAGAGGTGAGGCCTGTCCCCTTTGGGCTGGGGGCAGAACATGGGCTCAGAGTTGGGGGACTAAGGGCGGAGCCTGGGTCCCCACAAGCGGTCCGAAGTCCCCAGTAGTTCAGAGGCCTTTGCGCTGCCGCTTGAGGAAAGACAGAGTGTAGTCACTAGGGGTGGACACTTTCTGCTTCTTCATCTGCACTTGCGACTGTGCCGTGAGTTGCAGCTTGATGGCGCTCGAGTTGATCTTGGTGGCCACCAGCAGCTCCTTCATGCCCTTCATCTTCTCACTCTGGAAAGTGAGCACTGGACCCTCCGGCGGTGGTGATGCTGTGGGTGCTGGCACCTGAGCCGTGCTGCCACCTTCAGGGCCTCGGGCTGTGCCAGCGACAGTCCCAGGAGGCTTCCGGGGGGGTCCTGACACTGCACCCTGGCCGGTGCCCAGGCCCTTGTCCAGTGCTGGCTTCTTGGGCGGCGGGGGCTCCTCTGGCTTGGACTCCCGCCGTGGGCCCCGCCGCCGGCCTTCCCGGGCTTCCTCGCCCCACGGCTCCTCGGCCTCGGCCGCCTCGGCCTCTCGGCTCACTATGCGCACCTTCTGCCGCACCTGGGCCAGTGGGGAGAGCAAGGTGAGAGCAAGGTTGCCGGCCAGTGGCTGGAACTCCAGGACCCTGCTCTGGCCATCCCATCCCACCCAGGGGGTCTCAGTCCCATCGGCACCCAAGGGGATGGGCAGATGCTGCCCCTGGGCCAGAAAAGTCTGACAAGCCCGTGGCTGCTGTCACCACCTGTAGTGCCCAGACCTCTGTGCAGCTGTCCCTCACCTGTCCCTCAAAACGGCCTAGGGACTGCACAAGAAAGGTGGCCCAGCCCACATGCAGCACAGGCGTGGGACTGCCCTCCTCCCATTTGCAGATGCCATTGTAGAATCGCAGCAGGTGGGCGAAGCACTCAGGGTCCTGGAGGGCGGAACCTTGGCTCTGGGTGCCCTGGACGAGGGGGAAGGGAGGGCACAGATCAGTCTCTTACTCACCCCTTAGCAGAGGGCACAGGCCAGGCCCCCCACCTAGGCAAAGACCCCTGGCTCCAGAAAAGGTAAGCATAGGTTGGGAACATTCTTAGAACCTCTTTCCTTTTATAAAGCCAATCCATAGCCAGGACGTACCATCCCTACCTCCACCCCTCAGCTGAGGGAGGGAGTCTGGCCATGAAACTGAAGGCACAGGGTAGAAACCTCTAAAATACCTTCAGTCCCGTCCAACGTGGGCCCAGGACCTCAGTTATAGCAAAAGGGAACATAGCTGTCTGCTCAGGGCCACCTTCCTCCTGCCATCCCTAATCCCGTACATGCAGCCCCCATGGCCTGTGGAAGGGAGCCCTGTCCAGGTGGGAGGCTGGACACAGGCTGGAGCTCCAGCCTTTCACCTGGCTTTGCTCCCCCGGCCGCTCCTCGCCCGCCTCCAGCAAGCTGGCTGCCTCCTTCAGCAGGTTGGGGATGACATCATTGGCTACTTCAAAGAACTCCTTGTAGATCTCCTCGTCTTCCCGGCAGTAGTTGTAGCTGTGAGAGCAGTGGGGTCTCTGTAGGGTCTGAAGGGGTCTCACCATCGGGGGTAGCCCCAGGGACCTGGCGGGGGATGGAGCCCCCAGGGGCTGGGGGAGTAGGTGGGGTCCTCACTGCAAAATGATGCTGTCTGGGTCAGCCCAGAGGAAGAAAGCAAGAATGAGGAGGGGGGCATGGGGCCGAGGGTGGAAGTCCCACTGCTGGATGATGGTGGTTAAACATTGGAGATTTGAGACTGTTCTGAGAAAAAAAAAATTAGGAGGAGAGGGGAGGGAGGGAAAGATGTGACACCTTAATCAGGGTCCCTACCTCCTGGGTAATGGTGGCCTTGCTGCCTAGGGACTGGATGGAAAGGGGATGGGGCGTGGGAGCCAGGCCTCAGTCCTGGACGAGGGTGGTTGGAAACTGATGGAGGGGAAGAAAGGACAGGCTGCAGGCCCTAGTAGGGGGATCCTCACTCCTGGATGACAGTGGCCGTGTCCGCCCAGGCCTGCAGGGCTTCCCGCACATTGCGGTTGCGACAGTGGTAGCCAGCCAGGTACATGTAGGGGTAGATGTGTTCATCCCGATAGTAGGTCTTGGCTGAGGCAATGCCCTGGATGGAGGTGAGGCAGAGGATCCTCAGGGAGGCAGCCCCAGCTGCCCTGCTGGCACAAATGCCCCACCAGGGCACACCCAGAAGGGGCCACAGGAAGATCCCAGGGAGTCCTCTCCATCTCCACTCCCACCTCCACTCGCTGCCAGCCCTTCTACCTGGTCTCCTCCCTGGGTCTACAGGACTGCTGGCTGAGGCCTGGGGCAGACTGCAGGGGTGGGGCCTGCCCTCCGAGCTCAGGGCCCTTCTCTTTCTCAGACACTCTTCTACACATCACCAAAGACTTTCAAGCCCAGCCCAATGGCCCTCCTCCCCACCTACACCCACCAAGTGAACACCCCCTCTTCATCAGTGCTCCTGCCACATTTGACCTCTGTTATACTCCAGGAAGGACAGTAAGCAGTGGCAGAAAAGGCAGGGCTGAGGGGACAAATGCAGCCCCTGCCACTCCCAGGCTGGGGAACCCTGGACACCCCTCAGACAGCCCTGACTGAACTGATTCTGCACACAGTTGACACAAAGTGAGACTGGATGGGCGATACCCCCCAACACACAAAGTTCTCTTCTCATCTGCCCAGATGAGGGCCCCTGCCTCAGCCACTGTTAGGGTCTCCCTTCTGCACCCTCCTTAGATGCCCCCACCTTGTGGTAGAGGGTGAGTGGGTCTGGCCGGCCAGGGGTGGGCTCCAGCTCCTCTAGATCTGCCAGGTTCCCTAAGGCCATGGGGTACCTAGGAAAGGATCATAATTCAGGCTGCCACCCAGCCCCCCGGCCTCACCAGGCGCAGCCTGGCCACTTCCCTCTACTGA | pathogenic | 177,701 |
Does the chromosome 11 mutation at position 64805159 within gene MEN1 (menin 1) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Multiple_endocrine_neoplasia,_type_1'] | CCGCGGGTCCTGCAGCGACACATCCCGCAGCAGCGCCATGGCCCGGCGCCGGGCGGGCCGGCAGGCGGGCGGGCGCGAGCTGCGGAGCCGGCGCGGGGCGGCGCGGGGCGGGGCGGGCGCCCGTGGCTCTGAGGCCGCGGGGGCGGGGCTGAGGCCCGGGGGCGGGGCCGCGCCGGGGATGCCCCACCGCCAGTCCGGGAGGAGGCGCCCGCGGGACGGGCCCTCGGCGGCGCGGGGAAGCCCCAAGGCCGGGGCGGAGCCTACGTCCTTCCGCCGCCACTGTCGCTCGCGCTCCACAGGTAGGGAGCGCAAAGTCCCGGGAGCCAGAAGACAGAGGGAAGAGGGGGCGCTCCACTCCCCGCCCCATCCCCAATTTCCCAGATAAACATGGACTTGCGCTTTATATTTTTTTTAACAAAATGTATTCATCTTTCTTGGAACTGAAAAATAAATCTATGTACAAAACAGGAAGAGATCAGGCTCTTGTCACCCACTCCTAACCCTCTGCAGATTTCCTCCGGGATGCTCCGAGATGGGCTGGACCTCTGGGAGGTTCCCAGAGGGTCGGAAGGGAGGTCCTGCTCTGATCCGGGGCCAGTTTCGTCAGGAAGAGGGCGGGGCTCAGGATGCTCATAGGCTGGGGGCGGAGTTTTGTGTCCCAGACTCGGGATACGAAGGAGAGGAAACTAGGATTTCCAAATTCTGGAGCAGGACTGAAGTTATTTGGGGCAGGGAGCTTGGATTCGCAAGATATGGAATTCTGAAGTGCGGAAATATACTCCTAGGGGCTGAGTGGTCCTAGGCTCCCGGGCTGGAGGTGGGACCTGTGCTCCTTGGGTTAAGGGTGAAACCTCAGCTCCTACAAGCTGGGAGGAGCCCTGAGTAACGTTGGTCTGGCTCTAGGTGAGCGGTTCCGAGGAGGAGCTTGGGTTTCTAGGGGCTGGGCCTTTAAAGACTGGTAATTAGGACCCAGCGTGAGGTTTCCATTGGCCGGCTGGGATTCTGGGAGAAGAGACCTATATTCTAACGACTGGGGCAGAGCCCTGGGTTCTGAGCTGGAGAAAATCGTGGGTTTGATACAGACTGTACTCGGGACCGGGAACCTAGGGTTTGGGTAGAGGTGAGGCCTGTCCCCTTTGGGCTGGGGGCAGAACATGGGCTCAGAGTTGGGGGACTAAGGGCGGAGCCTGGGTCCCCACAAGCGGTCCGAAGTCCCCAGTAGTTCAGAGGCCTTTGCGCTGCCGCTTGAGGAAAGACAGAGTGTAGTCACTAGGGGTGGACACTTTCTGCTTCTTCATCTGCACTTGCGACTGTGCCGTGAGTTGCAGCTTGATGGCGCTCGAGTTGATCTTGGTGGCCACCAGCAGCTCCTTCATGCCCTTCATCTTCTCACTCTGGAAAGTGAGCACTGGACCCTCCGGCGGTGGTGATGCTGTGGGTGCTGGCACCTGAGCCGTGCTGCCACCTTCAGGGCCTCGGGCTGTGCCAGCGACAGTCCCAGGAGGCTTCCGGGGGGGTCCTGACACTGCACCCTGGCCGGTGCCCAGGCCCTTGTCCAGTGCTGGCTTCTTGGGCGGCGGGGGCTCCTCTGGCTTGGACTCCCGCCGTGGGCCCCGCCGCCGGCCTTCCCGGGCTTCCTCGCCCCACGGCTCCTCGGCCTCGGCCGCCTCGGCCTCTCGGCTCACTATGCGCACCTTCTGCCGCACCTGGGCCAGTGGGGAGAGCAAGGTGAGAGCAAGGTTGCCGGCCAGTGGCTGGAACTCCAGGACCCTGCTCTGGCCATCCCATCCCACCCAGGGGGTCTCAGTCCCATCGGCACCCAAGGGGATGGGCAGATGCTGCCCCTGGGCCAGAAAAGTCTGACAAGCCCGTGGCTGCTGTCACCACCTGTAGTGCCCAGACCTCTGTGCAGCTGTCCCTCACCTGTCCCTCAAAACGGCCTAGGGACTGCACAAGAAAGGTGGCCCAGCCCACATGCAGCACAGGCGTGGGACTGCCCTCCTCCCATTTGCAGATGCCGTCGTAGAATCGCAGCAGGTGGGCGAAGCACTCAGGGTCCTGGAGGGCGGAACCTTGGCTCTGGGTGCCCTGGACGAGGGGGAAGGGAGGGCACAGATCAGTCTCTTACTCACCCCTTAGCAGAGGGCACAGGCCAGGCCCCCCACCTAGGCAAAGACCCCTGGCTCCAGAAAAGGTAAGCATAGGTTGGGAACATTCTTAGAACCTCTTTCCTTTTATAAAGCCAATCCATAGCCAGGACGTACCATCCCTACCTCCACCCCTCAGCTGAGGGAGGGAGTCTGGCCATGAAACTGAAGGCACAGGGTAGAAACCTCTAAAATACCTTCAGTCCCGTCCAACGTGGGCCCAGGACCTCAGTTATAGCAAAAGGGAACATAGCTGTCTGCTCAGGGCCACCTTCCTCCTGCCATCCCTAATCCCGTACATGCAGCCCCCATGGCCTGTGGAAGGGAGCCCTGTCCAGGTGGGAGGCTGGACACAGGCTGGAGCTCCAGCCTTTCACCTGGCTTTGCTCCCCCGGCCGCTCCTCGCCCGCCTCCAGCAAGCTGGCTGCCTCCTTCAGCAGGTTGGGGATGACATCATTGGCTACTTCAAAGAACTCCTTGTAGATCTCCTCGTCTTCCCGGCAGTAGTTGTAGCTGTGAGAGCAGTGGGGTCTCTGTAGGGTCTGAAGGGGTCTCACCATCGGGGGTAGCCCCAGGGACCTGGCGGGGGATGGAGCCCCCAGGGGCTGGGGGAGTAGGTGGGGTCCTCACTGCAAAATGATGCTGTCTGGGTCAGCCCAGAGGAAGAAAGCAAGAATGAGGAGGGGGGCATGGGGCCGAGGGTGGAAGTCCCACTGCTGGATGATGGTGGTTAAACATTGGAGATTTGAGACTGTTCTGAGAAAAAAAAAATTAGGAGGAGAGGGGAGGGAGGGAAAGATGTGACACCTTAATCAGGGTCCCTACCTCCTGGGTAATGGTGGCCTTGCTGCCTAGGGACTGGATGGAAAGGGGATGGGGCGTGGGAGCCAGGCCTCAGTCCTGGACGAGGGTGGTTGGAAACTGATGGAGGGGAAGAAAGGACAGGCTGCAGGCCCTAGTAGGGGGATCCTCACTCCTGGATGACAGTGGCCGTGTCCGCCCAGGCCTGCAGGGCTTCCCGCACATTGCGGTTGCGACAGTGGTAGCCAGCCAGGTACATGTAGGGGTAGATGTGTTCATCCCGATAGTAGGTCTTGGCTGAGGCAATGCCCTGGATGGAGGTGAGGCAGAGGATCCTCAGGGAGGCAGCCCCAGCTGCCCTGCTGGCACAAATGCCCCACCAGGGCACACCCAGAAGGGGCCACAGGAAGATCCCAGGGAGTCCTCTCCATCTCCACTCCCACCTCCACTCGCTGCCAGCCCTTCTACCTGGTCTCCTCCCTGGGTCTACAGGACTGCTGGCTGAGGCCTGGGGCAGACTGCAGGGGTGGGGCCTGCCCTCCGAGCTCAGGGCCCTTCTCTTTCTCAGACACTCTTCTACACATCACCAAAGACTTTCAAGCCCAGCCCAATGGCCCTCCTCCCCACCTACACCCACCAAGTGAACACCCCCTCTTCATCAGTGCTCCTGCCACATTTGACCTCTGTTATACTCCAGGAAGGACAGTAAGCAGTGGCAGAAAAGGCAGGGCTGAGGGGACAAATGCAGCCCCTGCCACTCCCAGGCTGGGGAACCCTGGACACCCCTCAGACAGCCCTGACTGAACTGATTCTGCACACAGTTGACACAAAGTGAGACTGGATGGGCGATACCCCCCAACACACAAAGTTCTCTTCTCATCTGCCCAGATGAGGGCCCCTGCCTCAGCCACTGTTAGGGTCTCCCTTCTGCACCCTCCTTAGATGCCCCCACCTTGTGGTAGAGGGTGAGTGGGTCTGGCCGGCCAGGGGTGGGCTCCAGCTCCTCTAGATCTGCCAGGTTCCCTAAGGCCATGGGGTACCTAGGAAAGGATCATAATTCAGGCTGCCACCCAGCCCCCCGGCCTCACCAGGCGCAGCCTGGCCACTTCCCTCTACTGACCTTTCCAGATGTCCCAGGTCATAGAGCA | CCGCGGGTCCTGCAGCGACACATCCCGCAGCAGCGCCATGGCCCGGCGCCGGGCGGGCCGGCAGGCGGGCGGGCGCGAGCTGCGGAGCCGGCGCGGGGCGGCGCGGGGCGGGGCGGGCGCCCGTGGCTCTGAGGCCGCGGGGGCGGGGCTGAGGCCCGGGGGCGGGGCCGCGCCGGGGATGCCCCACCGCCAGTCCGGGAGGAGGCGCCCGCGGGACGGGCCCTCGGCGGCGCGGGGAAGCCCCAAGGCCGGGGCGGAGCCTACGTCCTTCCGCCGCCACTGTCGCTCGCGCTCCACAGGTAGGGAGCGCAAAGTCCCGGGAGCCAGAAGACAGAGGGAAGAGGGGGCGCTCCACTCCCCGCCCCATCCCCAATTTCCCAGATAAACATGGACTTGCGCTTTATATTTTTTTTAACAAAATGTATTCATCTTTCTTGGAACTGAAAAATAAATCTATGTACAAAACAGGAAGAGATCAGGCTCTTGTCACCCACTCCTAACCCTCTGCAGATTTCCTCCGGGATGCTCCGAGATGGGCTGGACCTCTGGGAGGTTCCCAGAGGGTCGGAAGGGAGGTCCTGCTCTGATCCGGGGCCAGTTTCGTCAGGAAGAGGGCGGGGCTCAGGATGCTCATAGGCTGGGGGCGGAGTTTTGTGTCCCAGACTCGGGATACGAAGGAGAGGAAACTAGGATTTCCAAATTCTGGAGCAGGACTGAAGTTATTTGGGGCAGGGAGCTTGGATTCGCAAGATATGGAATTCTGAAGTGCGGAAATATACTCCTAGGGGCTGAGTGGTCCTAGGCTCCCGGGCTGGAGGTGGGACCTGTGCTCCTTGGGTTAAGGGTGAAACCTCAGCTCCTACAAGCTGGGAGGAGCCCTGAGTAACGTTGGTCTGGCTCTAGGTGAGCGGTTCCGAGGAGGAGCTTGGGTTTCTAGGGGCTGGGCCTTTAAAGACTGGTAATTAGGACCCAGCGTGAGGTTTCCATTGGCCGGCTGGGATTCTGGGAGAAGAGACCTATATTCTAACGACTGGGGCAGAGCCCTGGGTTCTGAGCTGGAGAAAATCGTGGGTTTGATACAGACTGTACTCGGGACCGGGAACCTAGGGTTTGGGTAGAGGTGAGGCCTGTCCCCTTTGGGCTGGGGGCAGAACATGGGCTCAGAGTTGGGGGACTAAGGGCGGAGCCTGGGTCCCCACAAGCGGTCCGAAGTCCCCAGTAGTTCAGAGGCCTTTGCGCTGCCGCTTGAGGAAAGACAGAGTGTAGTCACTAGGGGTGGACACTTTCTGCTTCTTCATCTGCACTTGCGACTGTGCCGTGAGTTGCAGCTTGATGGCGCTCGAGTTGATCTTGGTGGCCACCAGCAGCTCCTTCATGCCCTTCATCTTCTCACTCTGGAAAGTGAGCACTGGACCCTCCGGCGGTGGTGATGCTGTGGGTGCTGGCACCTGAGCCGTGCTGCCACCTTCAGGGCCTCGGGCTGTGCCAGCGACAGTCCCAGGAGGCTTCCGGGGGGGTCCTGACACTGCACCCTGGCCGGTGCCCAGGCCCTTGTCCAGTGCTGGCTTCTTGGGCGGCGGGGGCTCCTCTGGCTTGGACTCCCGCCGTGGGCCCCGCCGCCGGCCTTCCCGGGCTTCCTCGCCCCACGGCTCCTCGGCCTCGGCCGCCTCGGCCTCTCGGCTCACTATGCGCACCTTCTGCCGCACCTGGGCCAGTGGGGAGAGCAAGGTGAGAGCAAGGTTGCCGGCCAGTGGCTGGAACTCCAGGACCCTGCTCTGGCCATCCCATCCCACCCAGGGGGTCTCAGTCCCATCGGCACCCAAGGGGATGGGCAGATGCTGCCCCTGGGCCAGAAAAGTCTGACAAGCCCGTGGCTGCTGTCACCACCTGTAGTGCCCAGACCTCTGTGCAGCTGTCCCTCACCTGTCCCTCAAAACGGCCTAGGGACTGCACAAGAAAGGTGGCCCAGCCCACATGCAGCACAGGCGTGGGACTGCCCTCCTCCCATTTGCAGATGCCGTCGTAGAATCGCAGCAGGTGGGCGAAGCAGGACCTCAGGGTCCTGGAGGGCGGAACCTTGGCTCTGGGTGCCCTGGACGAGGGGGAAGGGAGGGCACAGATCAGTCTCTTACTCACCCCTTAGCAGAGGGCACAGGCCAGGCCCCCCACCTAGGCAAAGACCCCTGGCTCCAGAAAAGGTAAGCATAGGTTGGGAACATTCTTAGAACCTCTTTCCTTTTATAAAGCCAATCCATAGCCAGGACGTACCATCCCTACCTCCACCCCTCAGCTGAGGGAGGGAGTCTGGCCATGAAACTGAAGGCACAGGGTAGAAACCTCTAAAATACCTTCAGTCCCGTCCAACGTGGGCCCAGGACCTCAGTTATAGCAAAAGGGAACATAGCTGTCTGCTCAGGGCCACCTTCCTCCTGCCATCCCTAATCCCGTACATGCAGCCCCCATGGCCTGTGGAAGGGAGCCCTGTCCAGGTGGGAGGCTGGACACAGGCTGGAGCTCCAGCCTTTCACCTGGCTTTGCTCCCCCGGCCGCTCCTCGCCCGCCTCCAGCAAGCTGGCTGCCTCCTTCAGCAGGTTGGGGATGACATCATTGGCTACTTCAAAGAACTCCTTGTAGATCTCCTCGTCTTCCCGGCAGTAGTTGTAGCTGTGAGAGCAGTGGGGTCTCTGTAGGGTCTGAAGGGGTCTCACCATCGGGGGTAGCCCCAGGGACCTGGCGGGGGATGGAGCCCCCAGGGGCTGGGGGAGTAGGTGGGGTCCTCACTGCAAAATGATGCTGTCTGGGTCAGCCCAGAGGAAGAAAGCAAGAATGAGGAGGGGGGCATGGGGCCGAGGGTGGAAGTCCCACTGCTGGATGATGGTGGTTAAACATTGGAGATTTGAGACTGTTCTGAGAAAAAAAAAATTAGGAGGAGAGGGGAGGGAGGGAAAGATGTGACACCTTAATCAGGGTCCCTACCTCCTGGGTAATGGTGGCCTTGCTGCCTAGGGACTGGATGGAAAGGGGATGGGGCGTGGGAGCCAGGCCTCAGTCCTGGACGAGGGTGGTTGGAAACTGATGGAGGGGAAGAAAGGACAGGCTGCAGGCCCTAGTAGGGGGATCCTCACTCCTGGATGACAGTGGCCGTGTCCGCCCAGGCCTGCAGGGCTTCCCGCACATTGCGGTTGCGACAGTGGTAGCCAGCCAGGTACATGTAGGGGTAGATGTGTTCATCCCGATAGTAGGTCTTGGCTGAGGCAATGCCCTGGATGGAGGTGAGGCAGAGGATCCTCAGGGAGGCAGCCCCAGCTGCCCTGCTGGCACAAATGCCCCACCAGGGCACACCCAGAAGGGGCCACAGGAAGATCCCAGGGAGTCCTCTCCATCTCCACTCCCACCTCCACTCGCTGCCAGCCCTTCTACCTGGTCTCCTCCCTGGGTCTACAGGACTGCTGGCTGAGGCCTGGGGCAGACTGCAGGGGTGGGGCCTGCCCTCCGAGCTCAGGGCCCTTCTCTTTCTCAGACACTCTTCTACACATCACCAAAGACTTTCAAGCCCAGCCCAATGGCCCTCCTCCCCACCTACACCCACCAAGTGAACACCCCCTCTTCATCAGTGCTCCTGCCACATTTGACCTCTGTTATACTCCAGGAAGGACAGTAAGCAGTGGCAGAAAAGGCAGGGCTGAGGGGACAAATGCAGCCCCTGCCACTCCCAGGCTGGGGAACCCTGGACACCCCTCAGACAGCCCTGACTGAACTGATTCTGCACACAGTTGACACAAAGTGAGACTGGATGGGCGATACCCCCCAACACACAAAGTTCTCTTCTCATCTGCCCAGATGAGGGCCCCTGCCTCAGCCACTGTTAGGGTCTCCCTTCTGCACCCTCCTTAGATGCCCCCACCTTGTGGTAGAGGGTGAGTGGGTCTGGCCGGCCAGGGGTGGGCTCCAGCTCCTCTAGATCTGCCAGGTTCCCTAAGGCCATGGGGTACCTAGGAAAGGATCATAATTCAGGCTGCCACCCAGCCCCCCGGCCTCACCAGGCGCAGCCTGGCCACTTCCCTCTACTGACCTTTCCAGATGTCCCAGGTCATAG | pathogenic | 177,708 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 11, position 64805162, gene MEN1 (menin 1). What disease(s) is it linked to if pathogenic? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Multiple_endocrine_neoplasia,_type_1'] | CGGGTCCTGCAGCGACACATCCCGCAGCAGCGCCATGGCCCGGCGCCGGGCGGGCCGGCAGGCGGGCGGGCGCGAGCTGCGGAGCCGGCGCGGGGCGGCGCGGGGCGGGGCGGGCGCCCGTGGCTCTGAGGCCGCGGGGGCGGGGCTGAGGCCCGGGGGCGGGGCCGCGCCGGGGATGCCCCACCGCCAGTCCGGGAGGAGGCGCCCGCGGGACGGGCCCTCGGCGGCGCGGGGAAGCCCCAAGGCCGGGGCGGAGCCTACGTCCTTCCGCCGCCACTGTCGCTCGCGCTCCACAGGTAGGGAGCGCAAAGTCCCGGGAGCCAGAAGACAGAGGGAAGAGGGGGCGCTCCACTCCCCGCCCCATCCCCAATTTCCCAGATAAACATGGACTTGCGCTTTATATTTTTTTTAACAAAATGTATTCATCTTTCTTGGAACTGAAAAATAAATCTATGTACAAAACAGGAAGAGATCAGGCTCTTGTCACCCACTCCTAACCCTCTGCAGATTTCCTCCGGGATGCTCCGAGATGGGCTGGACCTCTGGGAGGTTCCCAGAGGGTCGGAAGGGAGGTCCTGCTCTGATCCGGGGCCAGTTTCGTCAGGAAGAGGGCGGGGCTCAGGATGCTCATAGGCTGGGGGCGGAGTTTTGTGTCCCAGACTCGGGATACGAAGGAGAGGAAACTAGGATTTCCAAATTCTGGAGCAGGACTGAAGTTATTTGGGGCAGGGAGCTTGGATTCGCAAGATATGGAATTCTGAAGTGCGGAAATATACTCCTAGGGGCTGAGTGGTCCTAGGCTCCCGGGCTGGAGGTGGGACCTGTGCTCCTTGGGTTAAGGGTGAAACCTCAGCTCCTACAAGCTGGGAGGAGCCCTGAGTAACGTTGGTCTGGCTCTAGGTGAGCGGTTCCGAGGAGGAGCTTGGGTTTCTAGGGGCTGGGCCTTTAAAGACTGGTAATTAGGACCCAGCGTGAGGTTTCCATTGGCCGGCTGGGATTCTGGGAGAAGAGACCTATATTCTAACGACTGGGGCAGAGCCCTGGGTTCTGAGCTGGAGAAAATCGTGGGTTTGATACAGACTGTACTCGGGACCGGGAACCTAGGGTTTGGGTAGAGGTGAGGCCTGTCCCCTTTGGGCTGGGGGCAGAACATGGGCTCAGAGTTGGGGGACTAAGGGCGGAGCCTGGGTCCCCACAAGCGGTCCGAAGTCCCCAGTAGTTCAGAGGCCTTTGCGCTGCCGCTTGAGGAAAGACAGAGTGTAGTCACTAGGGGTGGACACTTTCTGCTTCTTCATCTGCACTTGCGACTGTGCCGTGAGTTGCAGCTTGATGGCGCTCGAGTTGATCTTGGTGGCCACCAGCAGCTCCTTCATGCCCTTCATCTTCTCACTCTGGAAAGTGAGCACTGGACCCTCCGGCGGTGGTGATGCTGTGGGTGCTGGCACCTGAGCCGTGCTGCCACCTTCAGGGCCTCGGGCTGTGCCAGCGACAGTCCCAGGAGGCTTCCGGGGGGGTCCTGACACTGCACCCTGGCCGGTGCCCAGGCCCTTGTCCAGTGCTGGCTTCTTGGGCGGCGGGGGCTCCTCTGGCTTGGACTCCCGCCGTGGGCCCCGCCGCCGGCCTTCCCGGGCTTCCTCGCCCCACGGCTCCTCGGCCTCGGCCGCCTCGGCCTCTCGGCTCACTATGCGCACCTTCTGCCGCACCTGGGCCAGTGGGGAGAGCAAGGTGAGAGCAAGGTTGCCGGCCAGTGGCTGGAACTCCAGGACCCTGCTCTGGCCATCCCATCCCACCCAGGGGGTCTCAGTCCCATCGGCACCCAAGGGGATGGGCAGATGCTGCCCCTGGGCCAGAAAAGTCTGACAAGCCCGTGGCTGCTGTCACCACCTGTAGTGCCCAGACCTCTGTGCAGCTGTCCCTCACCTGTCCCTCAAAACGGCCTAGGGACTGCACAAGAAAGGTGGCCCAGCCCACATGCAGCACAGGCGTGGGACTGCCCTCCTCCCATTTGCAGATGCCGTCGTAGAATCGCAGCAGGTGGGCGAAGCACTCAGGGTCCTGGAGGGCGGAACCTTGGCTCTGGGTGCCCTGGACGAGGGGGAAGGGAGGGCACAGATCAGTCTCTTACTCACCCCTTAGCAGAGGGCACAGGCCAGGCCCCCCACCTAGGCAAAGACCCCTGGCTCCAGAAAAGGTAAGCATAGGTTGGGAACATTCTTAGAACCTCTTTCCTTTTATAAAGCCAATCCATAGCCAGGACGTACCATCCCTACCTCCACCCCTCAGCTGAGGGAGGGAGTCTGGCCATGAAACTGAAGGCACAGGGTAGAAACCTCTAAAATACCTTCAGTCCCGTCCAACGTGGGCCCAGGACCTCAGTTATAGCAAAAGGGAACATAGCTGTCTGCTCAGGGCCACCTTCCTCCTGCCATCCCTAATCCCGTACATGCAGCCCCCATGGCCTGTGGAAGGGAGCCCTGTCCAGGTGGGAGGCTGGACACAGGCTGGAGCTCCAGCCTTTCACCTGGCTTTGCTCCCCCGGCCGCTCCTCGCCCGCCTCCAGCAAGCTGGCTGCCTCCTTCAGCAGGTTGGGGATGACATCATTGGCTACTTCAAAGAACTCCTTGTAGATCTCCTCGTCTTCCCGGCAGTAGTTGTAGCTGTGAGAGCAGTGGGGTCTCTGTAGGGTCTGAAGGGGTCTCACCATCGGGGGTAGCCCCAGGGACCTGGCGGGGGATGGAGCCCCCAGGGGCTGGGGGAGTAGGTGGGGTCCTCACTGCAAAATGATGCTGTCTGGGTCAGCCCAGAGGAAGAAAGCAAGAATGAGGAGGGGGGCATGGGGCCGAGGGTGGAAGTCCCACTGCTGGATGATGGTGGTTAAACATTGGAGATTTGAGACTGTTCTGAGAAAAAAAAAATTAGGAGGAGAGGGGAGGGAGGGAAAGATGTGACACCTTAATCAGGGTCCCTACCTCCTGGGTAATGGTGGCCTTGCTGCCTAGGGACTGGATGGAAAGGGGATGGGGCGTGGGAGCCAGGCCTCAGTCCTGGACGAGGGTGGTTGGAAACTGATGGAGGGGAAGAAAGGACAGGCTGCAGGCCCTAGTAGGGGGATCCTCACTCCTGGATGACAGTGGCCGTGTCCGCCCAGGCCTGCAGGGCTTCCCGCACATTGCGGTTGCGACAGTGGTAGCCAGCCAGGTACATGTAGGGGTAGATGTGTTCATCCCGATAGTAGGTCTTGGCTGAGGCAATGCCCTGGATGGAGGTGAGGCAGAGGATCCTCAGGGAGGCAGCCCCAGCTGCCCTGCTGGCACAAATGCCCCACCAGGGCACACCCAGAAGGGGCCACAGGAAGATCCCAGGGAGTCCTCTCCATCTCCACTCCCACCTCCACTCGCTGCCAGCCCTTCTACCTGGTCTCCTCCCTGGGTCTACAGGACTGCTGGCTGAGGCCTGGGGCAGACTGCAGGGGTGGGGCCTGCCCTCCGAGCTCAGGGCCCTTCTCTTTCTCAGACACTCTTCTACACATCACCAAAGACTTTCAAGCCCAGCCCAATGGCCCTCCTCCCCACCTACACCCACCAAGTGAACACCCCCTCTTCATCAGTGCTCCTGCCACATTTGACCTCTGTTATACTCCAGGAAGGACAGTAAGCAGTGGCAGAAAAGGCAGGGCTGAGGGGACAAATGCAGCCCCTGCCACTCCCAGGCTGGGGAACCCTGGACACCCCTCAGACAGCCCTGACTGAACTGATTCTGCACACAGTTGACACAAAGTGAGACTGGATGGGCGATACCCCCCAACACACAAAGTTCTCTTCTCATCTGCCCAGATGAGGGCCCCTGCCTCAGCCACTGTTAGGGTCTCCCTTCTGCACCCTCCTTAGATGCCCCCACCTTGTGGTAGAGGGTGAGTGGGTCTGGCCGGCCAGGGGTGGGCTCCAGCTCCTCTAGATCTGCCAGGTTCCCTAAGGCCATGGGGTACCTAGGAAAGGATCATAATTCAGGCTGCCACCCAGCCCCCCGGCCTCACCAGGCGCAGCCTGGCCACTTCCCTCTACTGACCTTTCCAGATGTCCCAGGTCATAGAGCAGCC | CGGGTCCTGCAGCGACACATCCCGCAGCAGCGCCATGGCCCGGCGCCGGGCGGGCCGGCAGGCGGGCGGGCGCGAGCTGCGGAGCCGGCGCGGGGCGGCGCGGGGCGGGGCGGGCGCCCGTGGCTCTGAGGCCGCGGGGGCGGGGCTGAGGCCCGGGGGCGGGGCCGCGCCGGGGATGCCCCACCGCCAGTCCGGGAGGAGGCGCCCGCGGGACGGGCCCTCGGCGGCGCGGGGAAGCCCCAAGGCCGGGGCGGAGCCTACGTCCTTCCGCCGCCACTGTCGCTCGCGCTCCACAGGTAGGGAGCGCAAAGTCCCGGGAGCCAGAAGACAGAGGGAAGAGGGGGCGCTCCACTCCCCGCCCCATCCCCAATTTCCCAGATAAACATGGACTTGCGCTTTATATTTTTTTTAACAAAATGTATTCATCTTTCTTGGAACTGAAAAATAAATCTATGTACAAAACAGGAAGAGATCAGGCTCTTGTCACCCACTCCTAACCCTCTGCAGATTTCCTCCGGGATGCTCCGAGATGGGCTGGACCTCTGGGAGGTTCCCAGAGGGTCGGAAGGGAGGTCCTGCTCTGATCCGGGGCCAGTTTCGTCAGGAAGAGGGCGGGGCTCAGGATGCTCATAGGCTGGGGGCGGAGTTTTGTGTCCCAGACTCGGGATACGAAGGAGAGGAAACTAGGATTTCCAAATTCTGGAGCAGGACTGAAGTTATTTGGGGCAGGGAGCTTGGATTCGCAAGATATGGAATTCTGAAGTGCGGAAATATACTCCTAGGGGCTGAGTGGTCCTAGGCTCCCGGGCTGGAGGTGGGACCTGTGCTCCTTGGGTTAAGGGTGAAACCTCAGCTCCTACAAGCTGGGAGGAGCCCTGAGTAACGTTGGTCTGGCTCTAGGTGAGCGGTTCCGAGGAGGAGCTTGGGTTTCTAGGGGCTGGGCCTTTAAAGACTGGTAATTAGGACCCAGCGTGAGGTTTCCATTGGCCGGCTGGGATTCTGGGAGAAGAGACCTATATTCTAACGACTGGGGCAGAGCCCTGGGTTCTGAGCTGGAGAAAATCGTGGGTTTGATACAGACTGTACTCGGGACCGGGAACCTAGGGTTTGGGTAGAGGTGAGGCCTGTCCCCTTTGGGCTGGGGGCAGAACATGGGCTCAGAGTTGGGGGACTAAGGGCGGAGCCTGGGTCCCCACAAGCGGTCCGAAGTCCCCAGTAGTTCAGAGGCCTTTGCGCTGCCGCTTGAGGAAAGACAGAGTGTAGTCACTAGGGGTGGACACTTTCTGCTTCTTCATCTGCACTTGCGACTGTGCCGTGAGTTGCAGCTTGATGGCGCTCGAGTTGATCTTGGTGGCCACCAGCAGCTCCTTCATGCCCTTCATCTTCTCACTCTGGAAAGTGAGCACTGGACCCTCCGGCGGTGGTGATGCTGTGGGTGCTGGCACCTGAGCCGTGCTGCCACCTTCAGGGCCTCGGGCTGTGCCAGCGACAGTCCCAGGAGGCTTCCGGGGGGGTCCTGACACTGCACCCTGGCCGGTGCCCAGGCCCTTGTCCAGTGCTGGCTTCTTGGGCGGCGGGGGCTCCTCTGGCTTGGACTCCCGCCGTGGGCCCCGCCGCCGGCCTTCCCGGGCTTCCTCGCCCCACGGCTCCTCGGCCTCGGCCGCCTCGGCCTCTCGGCTCACTATGCGCACCTTCTGCCGCACCTGGGCCAGTGGGGAGAGCAAGGTGAGAGCAAGGTTGCCGGCCAGTGGCTGGAACTCCAGGACCCTGCTCTGGCCATCCCATCCCACCCAGGGGGTCTCAGTCCCATCGGCACCCAAGGGGATGGGCAGATGCTGCCCCTGGGCCAGAAAAGTCTGACAAGCCCGTGGCTGCTGTCACCACCTGTAGTGCCCAGACCTCTGTGCAGCTGTCCCTCACCTGTCCCTCAAAACGGCCTAGGGACTGCACAAGAAAGGTGGCCCAGCCCACATGCAGCACAGGCGTGGGACTGCCCTCCTCCCATTTGCAGATGCCGTCGTAGAATCGCAGCAGGTGGGCGAAGCACTCGGTCCTGGAGGGCGGAACCTTGGCTCTGGGTGCCCTGGACGAGGGGGAAGGGAGGGCACAGATCAGTCTCTTACTCACCCCTTAGCAGAGGGCACAGGCCAGGCCCCCCACCTAGGCAAAGACCCCTGGCTCCAGAAAAGGTAAGCATAGGTTGGGAACATTCTTAGAACCTCTTTCCTTTTATAAAGCCAATCCATAGCCAGGACGTACCATCCCTACCTCCACCCCTCAGCTGAGGGAGGGAGTCTGGCCATGAAACTGAAGGCACAGGGTAGAAACCTCTAAAATACCTTCAGTCCCGTCCAACGTGGGCCCAGGACCTCAGTTATAGCAAAAGGGAACATAGCTGTCTGCTCAGGGCCACCTTCCTCCTGCCATCCCTAATCCCGTACATGCAGCCCCCATGGCCTGTGGAAGGGAGCCCTGTCCAGGTGGGAGGCTGGACACAGGCTGGAGCTCCAGCCTTTCACCTGGCTTTGCTCCCCCGGCCGCTCCTCGCCCGCCTCCAGCAAGCTGGCTGCCTCCTTCAGCAGGTTGGGGATGACATCATTGGCTACTTCAAAGAACTCCTTGTAGATCTCCTCGTCTTCCCGGCAGTAGTTGTAGCTGTGAGAGCAGTGGGGTCTCTGTAGGGTCTGAAGGGGTCTCACCATCGGGGGTAGCCCCAGGGACCTGGCGGGGGATGGAGCCCCCAGGGGCTGGGGGAGTAGGTGGGGTCCTCACTGCAAAATGATGCTGTCTGGGTCAGCCCAGAGGAAGAAAGCAAGAATGAGGAGGGGGGCATGGGGCCGAGGGTGGAAGTCCCACTGCTGGATGATGGTGGTTAAACATTGGAGATTTGAGACTGTTCTGAGAAAAAAAAAATTAGGAGGAGAGGGGAGGGAGGGAAAGATGTGACACCTTAATCAGGGTCCCTACCTCCTGGGTAATGGTGGCCTTGCTGCCTAGGGACTGGATGGAAAGGGGATGGGGCGTGGGAGCCAGGCCTCAGTCCTGGACGAGGGTGGTTGGAAACTGATGGAGGGGAAGAAAGGACAGGCTGCAGGCCCTAGTAGGGGGATCCTCACTCCTGGATGACAGTGGCCGTGTCCGCCCAGGCCTGCAGGGCTTCCCGCACATTGCGGTTGCGACAGTGGTAGCCAGCCAGGTACATGTAGGGGTAGATGTGTTCATCCCGATAGTAGGTCTTGGCTGAGGCAATGCCCTGGATGGAGGTGAGGCAGAGGATCCTCAGGGAGGCAGCCCCAGCTGCCCTGCTGGCACAAATGCCCCACCAGGGCACACCCAGAAGGGGCCACAGGAAGATCCCAGGGAGTCCTCTCCATCTCCACTCCCACCTCCACTCGCTGCCAGCCCTTCTACCTGGTCTCCTCCCTGGGTCTACAGGACTGCTGGCTGAGGCCTGGGGCAGACTGCAGGGGTGGGGCCTGCCCTCCGAGCTCAGGGCCCTTCTCTTTCTCAGACACTCTTCTACACATCACCAAAGACTTTCAAGCCCAGCCCAATGGCCCTCCTCCCCACCTACACCCACCAAGTGAACACCCCCTCTTCATCAGTGCTCCTGCCACATTTGACCTCTGTTATACTCCAGGAAGGACAGTAAGCAGTGGCAGAAAAGGCAGGGCTGAGGGGACAAATGCAGCCCCTGCCACTCCCAGGCTGGGGAACCCTGGACACCCCTCAGACAGCCCTGACTGAACTGATTCTGCACACAGTTGACACAAAGTGAGACTGGATGGGCGATACCCCCCAACACACAAAGTTCTCTTCTCATCTGCCCAGATGAGGGCCCCTGCCTCAGCCACTGTTAGGGTCTCCCTTCTGCACCCTCCTTAGATGCCCCCACCTTGTGGTAGAGGGTGAGTGGGTCTGGCCGGCCAGGGGTGGGCTCCAGCTCCTCTAGATCTGCCAGGTTCCCTAAGGCCATGGGGTACCTAGGAAAGGATCATAATTCAGGCTGCCACCCAGCCCCCCGGCCTCACCAGGCGCAGCCTGGCCACTTCCCTCTACTGACCTTTCCAGATGTCCCAGGTCATAGAGCAGCCNN | pathogenic | 177,709 |
Benign or pathogenic: chromosome 11, position 64805169, gene MEN1 (menin 1) variant? Disease(s) if pathogenic? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Multiple_endocrine_neoplasia,_type_1'] | TGCAGCGACACATCCCGCAGCAGCGCCATGGCCCGGCGCCGGGCGGGCCGGCAGGCGGGCGGGCGCGAGCTGCGGAGCCGGCGCGGGGCGGCGCGGGGCGGGGCGGGCGCCCGTGGCTCTGAGGCCGCGGGGGCGGGGCTGAGGCCCGGGGGCGGGGCCGCGCCGGGGATGCCCCACCGCCAGTCCGGGAGGAGGCGCCCGCGGGACGGGCCCTCGGCGGCGCGGGGAAGCCCCAAGGCCGGGGCGGAGCCTACGTCCTTCCGCCGCCACTGTCGCTCGCGCTCCACAGGTAGGGAGCGCAAAGTCCCGGGAGCCAGAAGACAGAGGGAAGAGGGGGCGCTCCACTCCCCGCCCCATCCCCAATTTCCCAGATAAACATGGACTTGCGCTTTATATTTTTTTTAACAAAATGTATTCATCTTTCTTGGAACTGAAAAATAAATCTATGTACAAAACAGGAAGAGATCAGGCTCTTGTCACCCACTCCTAACCCTCTGCAGATTTCCTCCGGGATGCTCCGAGATGGGCTGGACCTCTGGGAGGTTCCCAGAGGGTCGGAAGGGAGGTCCTGCTCTGATCCGGGGCCAGTTTCGTCAGGAAGAGGGCGGGGCTCAGGATGCTCATAGGCTGGGGGCGGAGTTTTGTGTCCCAGACTCGGGATACGAAGGAGAGGAAACTAGGATTTCCAAATTCTGGAGCAGGACTGAAGTTATTTGGGGCAGGGAGCTTGGATTCGCAAGATATGGAATTCTGAAGTGCGGAAATATACTCCTAGGGGCTGAGTGGTCCTAGGCTCCCGGGCTGGAGGTGGGACCTGTGCTCCTTGGGTTAAGGGTGAAACCTCAGCTCCTACAAGCTGGGAGGAGCCCTGAGTAACGTTGGTCTGGCTCTAGGTGAGCGGTTCCGAGGAGGAGCTTGGGTTTCTAGGGGCTGGGCCTTTAAAGACTGGTAATTAGGACCCAGCGTGAGGTTTCCATTGGCCGGCTGGGATTCTGGGAGAAGAGACCTATATTCTAACGACTGGGGCAGAGCCCTGGGTTCTGAGCTGGAGAAAATCGTGGGTTTGATACAGACTGTACTCGGGACCGGGAACCTAGGGTTTGGGTAGAGGTGAGGCCTGTCCCCTTTGGGCTGGGGGCAGAACATGGGCTCAGAGTTGGGGGACTAAGGGCGGAGCCTGGGTCCCCACAAGCGGTCCGAAGTCCCCAGTAGTTCAGAGGCCTTTGCGCTGCCGCTTGAGGAAAGACAGAGTGTAGTCACTAGGGGTGGACACTTTCTGCTTCTTCATCTGCACTTGCGACTGTGCCGTGAGTTGCAGCTTGATGGCGCTCGAGTTGATCTTGGTGGCCACCAGCAGCTCCTTCATGCCCTTCATCTTCTCACTCTGGAAAGTGAGCACTGGACCCTCCGGCGGTGGTGATGCTGTGGGTGCTGGCACCTGAGCCGTGCTGCCACCTTCAGGGCCTCGGGCTGTGCCAGCGACAGTCCCAGGAGGCTTCCGGGGGGGTCCTGACACTGCACCCTGGCCGGTGCCCAGGCCCTTGTCCAGTGCTGGCTTCTTGGGCGGCGGGGGCTCCTCTGGCTTGGACTCCCGCCGTGGGCCCCGCCGCCGGCCTTCCCGGGCTTCCTCGCCCCACGGCTCCTCGGCCTCGGCCGCCTCGGCCTCTCGGCTCACTATGCGCACCTTCTGCCGCACCTGGGCCAGTGGGGAGAGCAAGGTGAGAGCAAGGTTGCCGGCCAGTGGCTGGAACTCCAGGACCCTGCTCTGGCCATCCCATCCCACCCAGGGGGTCTCAGTCCCATCGGCACCCAAGGGGATGGGCAGATGCTGCCCCTGGGCCAGAAAAGTCTGACAAGCCCGTGGCTGCTGTCACCACCTGTAGTGCCCAGACCTCTGTGCAGCTGTCCCTCACCTGTCCCTCAAAACGGCCTAGGGACTGCACAAGAAAGGTGGCCCAGCCCACATGCAGCACAGGCGTGGGACTGCCCTCCTCCCATTTGCAGATGCCGTCGTAGAATCGCAGCAGGTGGGCGAAGCACTCAGGGTCCTGGAGGGCGGAACCTTGGCTCTGGGTGCCCTGGACGAGGGGGAAGGGAGGGCACAGATCAGTCTCTTACTCACCCCTTAGCAGAGGGCACAGGCCAGGCCCCCCACCTAGGCAAAGACCCCTGGCTCCAGAAAAGGTAAGCATAGGTTGGGAACATTCTTAGAACCTCTTTCCTTTTATAAAGCCAATCCATAGCCAGGACGTACCATCCCTACCTCCACCCCTCAGCTGAGGGAGGGAGTCTGGCCATGAAACTGAAGGCACAGGGTAGAAACCTCTAAAATACCTTCAGTCCCGTCCAACGTGGGCCCAGGACCTCAGTTATAGCAAAAGGGAACATAGCTGTCTGCTCAGGGCCACCTTCCTCCTGCCATCCCTAATCCCGTACATGCAGCCCCCATGGCCTGTGGAAGGGAGCCCTGTCCAGGTGGGAGGCTGGACACAGGCTGGAGCTCCAGCCTTTCACCTGGCTTTGCTCCCCCGGCCGCTCCTCGCCCGCCTCCAGCAAGCTGGCTGCCTCCTTCAGCAGGTTGGGGATGACATCATTGGCTACTTCAAAGAACTCCTTGTAGATCTCCTCGTCTTCCCGGCAGTAGTTGTAGCTGTGAGAGCAGTGGGGTCTCTGTAGGGTCTGAAGGGGTCTCACCATCGGGGGTAGCCCCAGGGACCTGGCGGGGGATGGAGCCCCCAGGGGCTGGGGGAGTAGGTGGGGTCCTCACTGCAAAATGATGCTGTCTGGGTCAGCCCAGAGGAAGAAAGCAAGAATGAGGAGGGGGGCATGGGGCCGAGGGTGGAAGTCCCACTGCTGGATGATGGTGGTTAAACATTGGAGATTTGAGACTGTTCTGAGAAAAAAAAAATTAGGAGGAGAGGGGAGGGAGGGAAAGATGTGACACCTTAATCAGGGTCCCTACCTCCTGGGTAATGGTGGCCTTGCTGCCTAGGGACTGGATGGAAAGGGGATGGGGCGTGGGAGCCAGGCCTCAGTCCTGGACGAGGGTGGTTGGAAACTGATGGAGGGGAAGAAAGGACAGGCTGCAGGCCCTAGTAGGGGGATCCTCACTCCTGGATGACAGTGGCCGTGTCCGCCCAGGCCTGCAGGGCTTCCCGCACATTGCGGTTGCGACAGTGGTAGCCAGCCAGGTACATGTAGGGGTAGATGTGTTCATCCCGATAGTAGGTCTTGGCTGAGGCAATGCCCTGGATGGAGGTGAGGCAGAGGATCCTCAGGGAGGCAGCCCCAGCTGCCCTGCTGGCACAAATGCCCCACCAGGGCACACCCAGAAGGGGCCACAGGAAGATCCCAGGGAGTCCTCTCCATCTCCACTCCCACCTCCACTCGCTGCCAGCCCTTCTACCTGGTCTCCTCCCTGGGTCTACAGGACTGCTGGCTGAGGCCTGGGGCAGACTGCAGGGGTGGGGCCTGCCCTCCGAGCTCAGGGCCCTTCTCTTTCTCAGACACTCTTCTACACATCACCAAAGACTTTCAAGCCCAGCCCAATGGCCCTCCTCCCCACCTACACCCACCAAGTGAACACCCCCTCTTCATCAGTGCTCCTGCCACATTTGACCTCTGTTATACTCCAGGAAGGACAGTAAGCAGTGGCAGAAAAGGCAGGGCTGAGGGGACAAATGCAGCCCCTGCCACTCCCAGGCTGGGGAACCCTGGACACCCCTCAGACAGCCCTGACTGAACTGATTCTGCACACAGTTGACACAAAGTGAGACTGGATGGGCGATACCCCCCAACACACAAAGTTCTCTTCTCATCTGCCCAGATGAGGGCCCCTGCCTCAGCCACTGTTAGGGTCTCCCTTCTGCACCCTCCTTAGATGCCCCCACCTTGTGGTAGAGGGTGAGTGGGTCTGGCCGGCCAGGGGTGGGCTCCAGCTCCTCTAGATCTGCCAGGTTCCCTAAGGCCATGGGGTACCTAGGAAAGGATCATAATTCAGGCTGCCACCCAGCCCCCCGGCCTCACCAGGCGCAGCCTGGCCACTTCCCTCTACTGACCTTTCCAGATGTCCCAGGTCATAGAGCAGCCAGAGCAG | TGCAGCGACACATCCCGCAGCAGCGCCATGGCCCGGCGCCGGGCGGGCCGGCAGGCGGGCGGGCGCGAGCTGCGGAGCCGGCGCGGGGCGGCGCGGGGCGGGGCGGGCGCCCGTGGCTCTGAGGCCGCGGGGGCGGGGCTGAGGCCCGGGGGCGGGGCCGCGCCGGGGATGCCCCACCGCCAGTCCGGGAGGAGGCGCCCGCGGGACGGGCCCTCGGCGGCGCGGGGAAGCCCCAAGGCCGGGGCGGAGCCTACGTCCTTCCGCCGCCACTGTCGCTCGCGCTCCACAGGTAGGGAGCGCAAAGTCCCGGGAGCCAGAAGACAGAGGGAAGAGGGGGCGCTCCACTCCCCGCCCCATCCCCAATTTCCCAGATAAACATGGACTTGCGCTTTATATTTTTTTTAACAAAATGTATTCATCTTTCTTGGAACTGAAAAATAAATCTATGTACAAAACAGGAAGAGATCAGGCTCTTGTCACCCACTCCTAACCCTCTGCAGATTTCCTCCGGGATGCTCCGAGATGGGCTGGACCTCTGGGAGGTTCCCAGAGGGTCGGAAGGGAGGTCCTGCTCTGATCCGGGGCCAGTTTCGTCAGGAAGAGGGCGGGGCTCAGGATGCTCATAGGCTGGGGGCGGAGTTTTGTGTCCCAGACTCGGGATACGAAGGAGAGGAAACTAGGATTTCCAAATTCTGGAGCAGGACTGAAGTTATTTGGGGCAGGGAGCTTGGATTCGCAAGATATGGAATTCTGAAGTGCGGAAATATACTCCTAGGGGCTGAGTGGTCCTAGGCTCCCGGGCTGGAGGTGGGACCTGTGCTCCTTGGGTTAAGGGTGAAACCTCAGCTCCTACAAGCTGGGAGGAGCCCTGAGTAACGTTGGTCTGGCTCTAGGTGAGCGGTTCCGAGGAGGAGCTTGGGTTTCTAGGGGCTGGGCCTTTAAAGACTGGTAATTAGGACCCAGCGTGAGGTTTCCATTGGCCGGCTGGGATTCTGGGAGAAGAGACCTATATTCTAACGACTGGGGCAGAGCCCTGGGTTCTGAGCTGGAGAAAATCGTGGGTTTGATACAGACTGTACTCGGGACCGGGAACCTAGGGTTTGGGTAGAGGTGAGGCCTGTCCCCTTTGGGCTGGGGGCAGAACATGGGCTCAGAGTTGGGGGACTAAGGGCGGAGCCTGGGTCCCCACAAGCGGTCCGAAGTCCCCAGTAGTTCAGAGGCCTTTGCGCTGCCGCTTGAGGAAAGACAGAGTGTAGTCACTAGGGGTGGACACTTTCTGCTTCTTCATCTGCACTTGCGACTGTGCCGTGAGTTGCAGCTTGATGGCGCTCGAGTTGATCTTGGTGGCCACCAGCAGCTCCTTCATGCCCTTCATCTTCTCACTCTGGAAAGTGAGCACTGGACCCTCCGGCGGTGGTGATGCTGTGGGTGCTGGCACCTGAGCCGTGCTGCCACCTTCAGGGCCTCGGGCTGTGCCAGCGACAGTCCCAGGAGGCTTCCGGGGGGGTCCTGACACTGCACCCTGGCCGGTGCCCAGGCCCTTGTCCAGTGCTGGCTTCTTGGGCGGCGGGGGCTCCTCTGGCTTGGACTCCCGCCGTGGGCCCCGCCGCCGGCCTTCCCGGGCTTCCTCGCCCCACGGCTCCTCGGCCTCGGCCGCCTCGGCCTCTCGGCTCACTATGCGCACCTTCTGCCGCACCTGGGCCAGTGGGGAGAGCAAGGTGAGAGCAAGGTTGCCGGCCAGTGGCTGGAACTCCAGGACCCTGCTCTGGCCATCCCATCCCACCCAGGGGGTCTCAGTCCCATCGGCACCCAAGGGGATGGGCAGATGCTGCCCCTGGGCCAGAAAAGTCTGACAAGCCCGTGGCTGCTGTCACCACCTGTAGTGCCCAGACCTCTGTGCAGCTGTCCCTCACCTGTCCCTCAAAACGGCCTAGGGACTGCACAAGAAAGGTGGCCCAGCCCACATGCAGCACAGGCGTGGGACTGCCCTCCTCCCATTTGCAGATGCCGTCGTAGAATCGCAGCAGGTGGGCGAAGCACTCAGGGTCCTTGGAGGGCGGAACCTTGGCTCTGGGTGCCCTGGACGAGGGGGAAGGGAGGGCACAGATCAGTCTCTTACTCACCCCTTAGCAGAGGGCACAGGCCAGGCCCCCCACCTAGGCAAAGACCCCTGGCTCCAGAAAAGGTAAGCATAGGTTGGGAACATTCTTAGAACCTCTTTCCTTTTATAAAGCCAATCCATAGCCAGGACGTACCATCCCTACCTCCACCCCTCAGCTGAGGGAGGGAGTCTGGCCATGAAACTGAAGGCACAGGGTAGAAACCTCTAAAATACCTTCAGTCCCGTCCAACGTGGGCCCAGGACCTCAGTTATAGCAAAAGGGAACATAGCTGTCTGCTCAGGGCCACCTTCCTCCTGCCATCCCTAATCCCGTACATGCAGCCCCCATGGCCTGTGGAAGGGAGCCCTGTCCAGGTGGGAGGCTGGACACAGGCTGGAGCTCCAGCCTTTCACCTGGCTTTGCTCCCCCGGCCGCTCCTCGCCCGCCTCCAGCAAGCTGGCTGCCTCCTTCAGCAGGTTGGGGATGACATCATTGGCTACTTCAAAGAACTCCTTGTAGATCTCCTCGTCTTCCCGGCAGTAGTTGTAGCTGTGAGAGCAGTGGGGTCTCTGTAGGGTCTGAAGGGGTCTCACCATCGGGGGTAGCCCCAGGGACCTGGCGGGGGATGGAGCCCCCAGGGGCTGGGGGAGTAGGTGGGGTCCTCACTGCAAAATGATGCTGTCTGGGTCAGCCCAGAGGAAGAAAGCAAGAATGAGGAGGGGGGCATGGGGCCGAGGGTGGAAGTCCCACTGCTGGATGATGGTGGTTAAACATTGGAGATTTGAGACTGTTCTGAGAAAAAAAAAATTAGGAGGAGAGGGGAGGGAGGGAAAGATGTGACACCTTAATCAGGGTCCCTACCTCCTGGGTAATGGTGGCCTTGCTGCCTAGGGACTGGATGGAAAGGGGATGGGGCGTGGGAGCCAGGCCTCAGTCCTGGACGAGGGTGGTTGGAAACTGATGGAGGGGAAGAAAGGACAGGCTGCAGGCCCTAGTAGGGGGATCCTCACTCCTGGATGACAGTGGCCGTGTCCGCCCAGGCCTGCAGGGCTTCCCGCACATTGCGGTTGCGACAGTGGTAGCCAGCCAGGTACATGTAGGGGTAGATGTGTTCATCCCGATAGTAGGTCTTGGCTGAGGCAATGCCCTGGATGGAGGTGAGGCAGAGGATCCTCAGGGAGGCAGCCCCAGCTGCCCTGCTGGCACAAATGCCCCACCAGGGCACACCCAGAAGGGGCCACAGGAAGATCCCAGGGAGTCCTCTCCATCTCCACTCCCACCTCCACTCGCTGCCAGCCCTTCTACCTGGTCTCCTCCCTGGGTCTACAGGACTGCTGGCTGAGGCCTGGGGCAGACTGCAGGGGTGGGGCCTGCCCTCCGAGCTCAGGGCCCTTCTCTTTCTCAGACACTCTTCTACACATCACCAAAGACTTTCAAGCCCAGCCCAATGGCCCTCCTCCCCACCTACACCCACCAAGTGAACACCCCCTCTTCATCAGTGCTCCTGCCACATTTGACCTCTGTTATACTCCAGGAAGGACAGTAAGCAGTGGCAGAAAAGGCAGGGCTGAGGGGACAAATGCAGCCCCTGCCACTCCCAGGCTGGGGAACCCTGGACACCCCTCAGACAGCCCTGACTGAACTGATTCTGCACACAGTTGACACAAAGTGAGACTGGATGGGCGATACCCCCCAACACACAAAGTTCTCTTCTCATCTGCCCAGATGAGGGCCCCTGCCTCAGCCACTGTTAGGGTCTCCCTTCTGCACCCTCCTTAGATGCCCCCACCTTGTGGTAGAGGGTGAGTGGGTCTGGCCGGCCAGGGGTGGGCTCCAGCTCCTCTAGATCTGCCAGGTTCCCTAAGGCCATGGGGTACCTAGGAAAGGATCATAATTCAGGCTGCCACCCAGCCCCCCGGCCTCACCAGGCGCAGCCTGGCCACTTCCCTCTACTGACCTTTCCAGATGTCCCAGGTCATAGAGCAGCCAGAGCA | pathogenic | 177,710 |
Considering the genetic mutation at chromosome 11, position 64805181, impacting MEN1 (menin 1): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Multiple_endocrine_neoplasia,_type_1'] | TCCCGCAGCAGCGCCATGGCCCGGCGCCGGGCGGGCCGGCAGGCGGGCGGGCGCGAGCTGCGGAGCCGGCGCGGGGCGGCGCGGGGCGGGGCGGGCGCCCGTGGCTCTGAGGCCGCGGGGGCGGGGCTGAGGCCCGGGGGCGGGGCCGCGCCGGGGATGCCCCACCGCCAGTCCGGGAGGAGGCGCCCGCGGGACGGGCCCTCGGCGGCGCGGGGAAGCCCCAAGGCCGGGGCGGAGCCTACGTCCTTCCGCCGCCACTGTCGCTCGCGCTCCACAGGTAGGGAGCGCAAAGTCCCGGGAGCCAGAAGACAGAGGGAAGAGGGGGCGCTCCACTCCCCGCCCCATCCCCAATTTCCCAGATAAACATGGACTTGCGCTTTATATTTTTTTTAACAAAATGTATTCATCTTTCTTGGAACTGAAAAATAAATCTATGTACAAAACAGGAAGAGATCAGGCTCTTGTCACCCACTCCTAACCCTCTGCAGATTTCCTCCGGGATGCTCCGAGATGGGCTGGACCTCTGGGAGGTTCCCAGAGGGTCGGAAGGGAGGTCCTGCTCTGATCCGGGGCCAGTTTCGTCAGGAAGAGGGCGGGGCTCAGGATGCTCATAGGCTGGGGGCGGAGTTTTGTGTCCCAGACTCGGGATACGAAGGAGAGGAAACTAGGATTTCCAAATTCTGGAGCAGGACTGAAGTTATTTGGGGCAGGGAGCTTGGATTCGCAAGATATGGAATTCTGAAGTGCGGAAATATACTCCTAGGGGCTGAGTGGTCCTAGGCTCCCGGGCTGGAGGTGGGACCTGTGCTCCTTGGGTTAAGGGTGAAACCTCAGCTCCTACAAGCTGGGAGGAGCCCTGAGTAACGTTGGTCTGGCTCTAGGTGAGCGGTTCCGAGGAGGAGCTTGGGTTTCTAGGGGCTGGGCCTTTAAAGACTGGTAATTAGGACCCAGCGTGAGGTTTCCATTGGCCGGCTGGGATTCTGGGAGAAGAGACCTATATTCTAACGACTGGGGCAGAGCCCTGGGTTCTGAGCTGGAGAAAATCGTGGGTTTGATACAGACTGTACTCGGGACCGGGAACCTAGGGTTTGGGTAGAGGTGAGGCCTGTCCCCTTTGGGCTGGGGGCAGAACATGGGCTCAGAGTTGGGGGACTAAGGGCGGAGCCTGGGTCCCCACAAGCGGTCCGAAGTCCCCAGTAGTTCAGAGGCCTTTGCGCTGCCGCTTGAGGAAAGACAGAGTGTAGTCACTAGGGGTGGACACTTTCTGCTTCTTCATCTGCACTTGCGACTGTGCCGTGAGTTGCAGCTTGATGGCGCTCGAGTTGATCTTGGTGGCCACCAGCAGCTCCTTCATGCCCTTCATCTTCTCACTCTGGAAAGTGAGCACTGGACCCTCCGGCGGTGGTGATGCTGTGGGTGCTGGCACCTGAGCCGTGCTGCCACCTTCAGGGCCTCGGGCTGTGCCAGCGACAGTCCCAGGAGGCTTCCGGGGGGGTCCTGACACTGCACCCTGGCCGGTGCCCAGGCCCTTGTCCAGTGCTGGCTTCTTGGGCGGCGGGGGCTCCTCTGGCTTGGACTCCCGCCGTGGGCCCCGCCGCCGGCCTTCCCGGGCTTCCTCGCCCCACGGCTCCTCGGCCTCGGCCGCCTCGGCCTCTCGGCTCACTATGCGCACCTTCTGCCGCACCTGGGCCAGTGGGGAGAGCAAGGTGAGAGCAAGGTTGCCGGCCAGTGGCTGGAACTCCAGGACCCTGCTCTGGCCATCCCATCCCACCCAGGGGGTCTCAGTCCCATCGGCACCCAAGGGGATGGGCAGATGCTGCCCCTGGGCCAGAAAAGTCTGACAAGCCCGTGGCTGCTGTCACCACCTGTAGTGCCCAGACCTCTGTGCAGCTGTCCCTCACCTGTCCCTCAAAACGGCCTAGGGACTGCACAAGAAAGGTGGCCCAGCCCACATGCAGCACAGGCGTGGGACTGCCCTCCTCCCATTTGCAGATGCCGTCGTAGAATCGCAGCAGGTGGGCGAAGCACTCAGGGTCCTGGAGGGCGGAACCTTGGCTCTGGGTGCCCTGGACGAGGGGGAAGGGAGGGCACAGATCAGTCTCTTACTCACCCCTTAGCAGAGGGCACAGGCCAGGCCCCCCACCTAGGCAAAGACCCCTGGCTCCAGAAAAGGTAAGCATAGGTTGGGAACATTCTTAGAACCTCTTTCCTTTTATAAAGCCAATCCATAGCCAGGACGTACCATCCCTACCTCCACCCCTCAGCTGAGGGAGGGAGTCTGGCCATGAAACTGAAGGCACAGGGTAGAAACCTCTAAAATACCTTCAGTCCCGTCCAACGTGGGCCCAGGACCTCAGTTATAGCAAAAGGGAACATAGCTGTCTGCTCAGGGCCACCTTCCTCCTGCCATCCCTAATCCCGTACATGCAGCCCCCATGGCCTGTGGAAGGGAGCCCTGTCCAGGTGGGAGGCTGGACACAGGCTGGAGCTCCAGCCTTTCACCTGGCTTTGCTCCCCCGGCCGCTCCTCGCCCGCCTCCAGCAAGCTGGCTGCCTCCTTCAGCAGGTTGGGGATGACATCATTGGCTACTTCAAAGAACTCCTTGTAGATCTCCTCGTCTTCCCGGCAGTAGTTGTAGCTGTGAGAGCAGTGGGGTCTCTGTAGGGTCTGAAGGGGTCTCACCATCGGGGGTAGCCCCAGGGACCTGGCGGGGGATGGAGCCCCCAGGGGCTGGGGGAGTAGGTGGGGTCCTCACTGCAAAATGATGCTGTCTGGGTCAGCCCAGAGGAAGAAAGCAAGAATGAGGAGGGGGGCATGGGGCCGAGGGTGGAAGTCCCACTGCTGGATGATGGTGGTTAAACATTGGAGATTTGAGACTGTTCTGAGAAAAAAAAAATTAGGAGGAGAGGGGAGGGAGGGAAAGATGTGACACCTTAATCAGGGTCCCTACCTCCTGGGTAATGGTGGCCTTGCTGCCTAGGGACTGGATGGAAAGGGGATGGGGCGTGGGAGCCAGGCCTCAGTCCTGGACGAGGGTGGTTGGAAACTGATGGAGGGGAAGAAAGGACAGGCTGCAGGCCCTAGTAGGGGGATCCTCACTCCTGGATGACAGTGGCCGTGTCCGCCCAGGCCTGCAGGGCTTCCCGCACATTGCGGTTGCGACAGTGGTAGCCAGCCAGGTACATGTAGGGGTAGATGTGTTCATCCCGATAGTAGGTCTTGGCTGAGGCAATGCCCTGGATGGAGGTGAGGCAGAGGATCCTCAGGGAGGCAGCCCCAGCTGCCCTGCTGGCACAAATGCCCCACCAGGGCACACCCAGAAGGGGCCACAGGAAGATCCCAGGGAGTCCTCTCCATCTCCACTCCCACCTCCACTCGCTGCCAGCCCTTCTACCTGGTCTCCTCCCTGGGTCTACAGGACTGCTGGCTGAGGCCTGGGGCAGACTGCAGGGGTGGGGCCTGCCCTCCGAGCTCAGGGCCCTTCTCTTTCTCAGACACTCTTCTACACATCACCAAAGACTTTCAAGCCCAGCCCAATGGCCCTCCTCCCCACCTACACCCACCAAGTGAACACCCCCTCTTCATCAGTGCTCCTGCCACATTTGACCTCTGTTATACTCCAGGAAGGACAGTAAGCAGTGGCAGAAAAGGCAGGGCTGAGGGGACAAATGCAGCCCCTGCCACTCCCAGGCTGGGGAACCCTGGACACCCCTCAGACAGCCCTGACTGAACTGATTCTGCACACAGTTGACACAAAGTGAGACTGGATGGGCGATACCCCCCAACACACAAAGTTCTCTTCTCATCTGCCCAGATGAGGGCCCCTGCCTCAGCCACTGTTAGGGTCTCCCTTCTGCACCCTCCTTAGATGCCCCCACCTTGTGGTAGAGGGTGAGTGGGTCTGGCCGGCCAGGGGTGGGCTCCAGCTCCTCTAGATCTGCCAGGTTCCCTAAGGCCATGGGGTACCTAGGAAAGGATCATAATTCAGGCTGCCACCCAGCCCCCCGGCCTCACCAGGCGCAGCCTGGCCACTTCCCTCTACTGACCTTTCCAGATGTCCCAGGTCATAGAGCAGCCAGAGCAGCTTCTAGGAGCC | TCCCGCAGCAGCGCCATGGCCCGGCGCCGGGCGGGCCGGCAGGCGGGCGGGCGCGAGCTGCGGAGCCGGCGCGGGGCGGCGCGGGGCGGGGCGGGCGCCCGTGGCTCTGAGGCCGCGGGGGCGGGGCTGAGGCCCGGGGGCGGGGCCGCGCCGGGGATGCCCCACCGCCAGTCCGGGAGGAGGCGCCCGCGGGACGGGCCCTCGGCGGCGCGGGGAAGCCCCAAGGCCGGGGCGGAGCCTACGTCCTTCCGCCGCCACTGTCGCTCGCGCTCCACAGGTAGGGAGCGCAAAGTCCCGGGAGCCAGAAGACAGAGGGAAGAGGGGGCGCTCCACTCCCCGCCCCATCCCCAATTTCCCAGATAAACATGGACTTGCGCTTTATATTTTTTTTAACAAAATGTATTCATCTTTCTTGGAACTGAAAAATAAATCTATGTACAAAACAGGAAGAGATCAGGCTCTTGTCACCCACTCCTAACCCTCTGCAGATTTCCTCCGGGATGCTCCGAGATGGGCTGGACCTCTGGGAGGTTCCCAGAGGGTCGGAAGGGAGGTCCTGCTCTGATCCGGGGCCAGTTTCGTCAGGAAGAGGGCGGGGCTCAGGATGCTCATAGGCTGGGGGCGGAGTTTTGTGTCCCAGACTCGGGATACGAAGGAGAGGAAACTAGGATTTCCAAATTCTGGAGCAGGACTGAAGTTATTTGGGGCAGGGAGCTTGGATTCGCAAGATATGGAATTCTGAAGTGCGGAAATATACTCCTAGGGGCTGAGTGGTCCTAGGCTCCCGGGCTGGAGGTGGGACCTGTGCTCCTTGGGTTAAGGGTGAAACCTCAGCTCCTACAAGCTGGGAGGAGCCCTGAGTAACGTTGGTCTGGCTCTAGGTGAGCGGTTCCGAGGAGGAGCTTGGGTTTCTAGGGGCTGGGCCTTTAAAGACTGGTAATTAGGACCCAGCGTGAGGTTTCCATTGGCCGGCTGGGATTCTGGGAGAAGAGACCTATATTCTAACGACTGGGGCAGAGCCCTGGGTTCTGAGCTGGAGAAAATCGTGGGTTTGATACAGACTGTACTCGGGACCGGGAACCTAGGGTTTGGGTAGAGGTGAGGCCTGTCCCCTTTGGGCTGGGGGCAGAACATGGGCTCAGAGTTGGGGGACTAAGGGCGGAGCCTGGGTCCCCACAAGCGGTCCGAAGTCCCCAGTAGTTCAGAGGCCTTTGCGCTGCCGCTTGAGGAAAGACAGAGTGTAGTCACTAGGGGTGGACACTTTCTGCTTCTTCATCTGCACTTGCGACTGTGCCGTGAGTTGCAGCTTGATGGCGCTCGAGTTGATCTTGGTGGCCACCAGCAGCTCCTTCATGCCCTTCATCTTCTCACTCTGGAAAGTGAGCACTGGACCCTCCGGCGGTGGTGATGCTGTGGGTGCTGGCACCTGAGCCGTGCTGCCACCTTCAGGGCCTCGGGCTGTGCCAGCGACAGTCCCAGGAGGCTTCCGGGGGGGTCCTGACACTGCACCCTGGCCGGTGCCCAGGCCCTTGTCCAGTGCTGGCTTCTTGGGCGGCGGGGGCTCCTCTGGCTTGGACTCCCGCCGTGGGCCCCGCCGCCGGCCTTCCCGGGCTTCCTCGCCCCACGGCTCCTCGGCCTCGGCCGCCTCGGCCTCTCGGCTCACTATGCGCACCTTCTGCCGCACCTGGGCCAGTGGGGAGAGCAAGGTGAGAGCAAGGTTGCCGGCCAGTGGCTGGAACTCCAGGACCCTGCTCTGGCCATCCCATCCCACCCAGGGGGTCTCAGTCCCATCGGCACCCAAGGGGATGGGCAGATGCTGCCCCTGGGCCAGAAAAGTCTGACAAGCCCGTGGCTGCTGTCACCACCTGTAGTGCCCAGACCTCTGTGCAGCTGTCCCTCACCTGTCCCTCAAAACGGCCTAGGGACTGCACAAGAAAGGTGGCCCAGCCCACATGCAGCACAGGCGTGGGACTGCCCTCCTCCCATTTGCAGATGCCGTCGTAGAATCGCAGCAGGTGGGCGAAGCACTCAGGGTCCTGGAGGGCGGAACTTGGCTCTGGGTGCCCTGGACGAGGGGGAAGGGAGGGCACAGATCAGTCTCTTACTCACCCCTTAGCAGAGGGCACAGGCCAGGCCCCCCACCTAGGCAAAGACCCCTGGCTCCAGAAAAGGTAAGCATAGGTTGGGAACATTCTTAGAACCTCTTTCCTTTTATAAAGCCAATCCATAGCCAGGACGTACCATCCCTACCTCCACCCCTCAGCTGAGGGAGGGAGTCTGGCCATGAAACTGAAGGCACAGGGTAGAAACCTCTAAAATACCTTCAGTCCCGTCCAACGTGGGCCCAGGACCTCAGTTATAGCAAAAGGGAACATAGCTGTCTGCTCAGGGCCACCTTCCTCCTGCCATCCCTAATCCCGTACATGCAGCCCCCATGGCCTGTGGAAGGGAGCCCTGTCCAGGTGGGAGGCTGGACACAGGCTGGAGCTCCAGCCTTTCACCTGGCTTTGCTCCCCCGGCCGCTCCTCGCCCGCCTCCAGCAAGCTGGCTGCCTCCTTCAGCAGGTTGGGGATGACATCATTGGCTACTTCAAAGAACTCCTTGTAGATCTCCTCGTCTTCCCGGCAGTAGTTGTAGCTGTGAGAGCAGTGGGGTCTCTGTAGGGTCTGAAGGGGTCTCACCATCGGGGGTAGCCCCAGGGACCTGGCGGGGGATGGAGCCCCCAGGGGCTGGGGGAGTAGGTGGGGTCCTCACTGCAAAATGATGCTGTCTGGGTCAGCCCAGAGGAAGAAAGCAAGAATGAGGAGGGGGGCATGGGGCCGAGGGTGGAAGTCCCACTGCTGGATGATGGTGGTTAAACATTGGAGATTTGAGACTGTTCTGAGAAAAAAAAAATTAGGAGGAGAGGGGAGGGAGGGAAAGATGTGACACCTTAATCAGGGTCCCTACCTCCTGGGTAATGGTGGCCTTGCTGCCTAGGGACTGGATGGAAAGGGGATGGGGCGTGGGAGCCAGGCCTCAGTCCTGGACGAGGGTGGTTGGAAACTGATGGAGGGGAAGAAAGGACAGGCTGCAGGCCCTAGTAGGGGGATCCTCACTCCTGGATGACAGTGGCCGTGTCCGCCCAGGCCTGCAGGGCTTCCCGCACATTGCGGTTGCGACAGTGGTAGCCAGCCAGGTACATGTAGGGGTAGATGTGTTCATCCCGATAGTAGGTCTTGGCTGAGGCAATGCCCTGGATGGAGGTGAGGCAGAGGATCCTCAGGGAGGCAGCCCCAGCTGCCCTGCTGGCACAAATGCCCCACCAGGGCACACCCAGAAGGGGCCACAGGAAGATCCCAGGGAGTCCTCTCCATCTCCACTCCCACCTCCACTCGCTGCCAGCCCTTCTACCTGGTCTCCTCCCTGGGTCTACAGGACTGCTGGCTGAGGCCTGGGGCAGACTGCAGGGGTGGGGCCTGCCCTCCGAGCTCAGGGCCCTTCTCTTTCTCAGACACTCTTCTACACATCACCAAAGACTTTCAAGCCCAGCCCAATGGCCCTCCTCCCCACCTACACCCACCAAGTGAACACCCCCTCTTCATCAGTGCTCCTGCCACATTTGACCTCTGTTATACTCCAGGAAGGACAGTAAGCAGTGGCAGAAAAGGCAGGGCTGAGGGGACAAATGCAGCCCCTGCCACTCCCAGGCTGGGGAACCCTGGACACCCCTCAGACAGCCCTGACTGAACTGATTCTGCACACAGTTGACACAAAGTGAGACTGGATGGGCGATACCCCCCAACACACAAAGTTCTCTTCTCATCTGCCCAGATGAGGGCCCCTGCCTCAGCCACTGTTAGGGTCTCCCTTCTGCACCCTCCTTAGATGCCCCCACCTTGTGGTAGAGGGTGAGTGGGTCTGGCCGGCCAGGGGTGGGCTCCAGCTCCTCTAGATCTGCCAGGTTCCCTAAGGCCATGGGGTACCTAGGAAAGGATCATAATTCAGGCTGCCACCCAGCCCCCCGGCCTCACCAGGCGCAGCCTGGCCACTTCCCTCTACTGACCTTTCCAGATGTCCCAGGTCATAGAGCAGCCAGAGCAGCTTCTAGGAGCCN | pathogenic | 177,717 |
Does the chromosome 11 mutation at position 64805205 within gene MEN1 (menin 1) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | benign | CGCCGGGCGGGCCGGCAGGCGGGCGGGCGCGAGCTGCGGAGCCGGCGCGGGGCGGCGCGGGGCGGGGCGGGCGCCCGTGGCTCTGAGGCCGCGGGGGCGGGGCTGAGGCCCGGGGGCGGGGCCGCGCCGGGGATGCCCCACCGCCAGTCCGGGAGGAGGCGCCCGCGGGACGGGCCCTCGGCGGCGCGGGGAAGCCCCAAGGCCGGGGCGGAGCCTACGTCCTTCCGCCGCCACTGTCGCTCGCGCTCCACAGGTAGGGAGCGCAAAGTCCCGGGAGCCAGAAGACAGAGGGAAGAGGGGGCGCTCCACTCCCCGCCCCATCCCCAATTTCCCAGATAAACATGGACTTGCGCTTTATATTTTTTTTAACAAAATGTATTCATCTTTCTTGGAACTGAAAAATAAATCTATGTACAAAACAGGAAGAGATCAGGCTCTTGTCACCCACTCCTAACCCTCTGCAGATTTCCTCCGGGATGCTCCGAGATGGGCTGGACCTCTGGGAGGTTCCCAGAGGGTCGGAAGGGAGGTCCTGCTCTGATCCGGGGCCAGTTTCGTCAGGAAGAGGGCGGGGCTCAGGATGCTCATAGGCTGGGGGCGGAGTTTTGTGTCCCAGACTCGGGATACGAAGGAGAGGAAACTAGGATTTCCAAATTCTGGAGCAGGACTGAAGTTATTTGGGGCAGGGAGCTTGGATTCGCAAGATATGGAATTCTGAAGTGCGGAAATATACTCCTAGGGGCTGAGTGGTCCTAGGCTCCCGGGCTGGAGGTGGGACCTGTGCTCCTTGGGTTAAGGGTGAAACCTCAGCTCCTACAAGCTGGGAGGAGCCCTGAGTAACGTTGGTCTGGCTCTAGGTGAGCGGTTCCGAGGAGGAGCTTGGGTTTCTAGGGGCTGGGCCTTTAAAGACTGGTAATTAGGACCCAGCGTGAGGTTTCCATTGGCCGGCTGGGATTCTGGGAGAAGAGACCTATATTCTAACGACTGGGGCAGAGCCCTGGGTTCTGAGCTGGAGAAAATCGTGGGTTTGATACAGACTGTACTCGGGACCGGGAACCTAGGGTTTGGGTAGAGGTGAGGCCTGTCCCCTTTGGGCTGGGGGCAGAACATGGGCTCAGAGTTGGGGGACTAAGGGCGGAGCCTGGGTCCCCACAAGCGGTCCGAAGTCCCCAGTAGTTCAGAGGCCTTTGCGCTGCCGCTTGAGGAAAGACAGAGTGTAGTCACTAGGGGTGGACACTTTCTGCTTCTTCATCTGCACTTGCGACTGTGCCGTGAGTTGCAGCTTGATGGCGCTCGAGTTGATCTTGGTGGCCACCAGCAGCTCCTTCATGCCCTTCATCTTCTCACTCTGGAAAGTGAGCACTGGACCCTCCGGCGGTGGTGATGCTGTGGGTGCTGGCACCTGAGCCGTGCTGCCACCTTCAGGGCCTCGGGCTGTGCCAGCGACAGTCCCAGGAGGCTTCCGGGGGGGTCCTGACACTGCACCCTGGCCGGTGCCCAGGCCCTTGTCCAGTGCTGGCTTCTTGGGCGGCGGGGGCTCCTCTGGCTTGGACTCCCGCCGTGGGCCCCGCCGCCGGCCTTCCCGGGCTTCCTCGCCCCACGGCTCCTCGGCCTCGGCCGCCTCGGCCTCTCGGCTCACTATGCGCACCTTCTGCCGCACCTGGGCCAGTGGGGAGAGCAAGGTGAGAGCAAGGTTGCCGGCCAGTGGCTGGAACTCCAGGACCCTGCTCTGGCCATCCCATCCCACCCAGGGGGTCTCAGTCCCATCGGCACCCAAGGGGATGGGCAGATGCTGCCCCTGGGCCAGAAAAGTCTGACAAGCCCGTGGCTGCTGTCACCACCTGTAGTGCCCAGACCTCTGTGCAGCTGTCCCTCACCTGTCCCTCAAAACGGCCTAGGGACTGCACAAGAAAGGTGGCCCAGCCCACATGCAGCACAGGCGTGGGACTGCCCTCCTCCCATTTGCAGATGCCGTCGTAGAATCGCAGCAGGTGGGCGAAGCACTCAGGGTCCTGGAGGGCGGAACCTTGGCTCTGGGTGCCCTGGACGAGGGGGAAGGGAGGGCACAGATCAGTCTCTTACTCACCCCTTAGCAGAGGGCACAGGCCAGGCCCCCCACCTAGGCAAAGACCCCTGGCTCCAGAAAAGGTAAGCATAGGTTGGGAACATTCTTAGAACCTCTTTCCTTTTATAAAGCCAATCCATAGCCAGGACGTACCATCCCTACCTCCACCCCTCAGCTGAGGGAGGGAGTCTGGCCATGAAACTGAAGGCACAGGGTAGAAACCTCTAAAATACCTTCAGTCCCGTCCAACGTGGGCCCAGGACCTCAGTTATAGCAAAAGGGAACATAGCTGTCTGCTCAGGGCCACCTTCCTCCTGCCATCCCTAATCCCGTACATGCAGCCCCCATGGCCTGTGGAAGGGAGCCCTGTCCAGGTGGGAGGCTGGACACAGGCTGGAGCTCCAGCCTTTCACCTGGCTTTGCTCCCCCGGCCGCTCCTCGCCCGCCTCCAGCAAGCTGGCTGCCTCCTTCAGCAGGTTGGGGATGACATCATTGGCTACTTCAAAGAACTCCTTGTAGATCTCCTCGTCTTCCCGGCAGTAGTTGTAGCTGTGAGAGCAGTGGGGTCTCTGTAGGGTCTGAAGGGGTCTCACCATCGGGGGTAGCCCCAGGGACCTGGCGGGGGATGGAGCCCCCAGGGGCTGGGGGAGTAGGTGGGGTCCTCACTGCAAAATGATGCTGTCTGGGTCAGCCCAGAGGAAGAAAGCAAGAATGAGGAGGGGGGCATGGGGCCGAGGGTGGAAGTCCCACTGCTGGATGATGGTGGTTAAACATTGGAGATTTGAGACTGTTCTGAGAAAAAAAAAATTAGGAGGAGAGGGGAGGGAGGGAAAGATGTGACACCTTAATCAGGGTCCCTACCTCCTGGGTAATGGTGGCCTTGCTGCCTAGGGACTGGATGGAAAGGGGATGGGGCGTGGGAGCCAGGCCTCAGTCCTGGACGAGGGTGGTTGGAAACTGATGGAGGGGAAGAAAGGACAGGCTGCAGGCCCTAGTAGGGGGATCCTCACTCCTGGATGACAGTGGCCGTGTCCGCCCAGGCCTGCAGGGCTTCCCGCACATTGCGGTTGCGACAGTGGTAGCCAGCCAGGTACATGTAGGGGTAGATGTGTTCATCCCGATAGTAGGTCTTGGCTGAGGCAATGCCCTGGATGGAGGTGAGGCAGAGGATCCTCAGGGAGGCAGCCCCAGCTGCCCTGCTGGCACAAATGCCCCACCAGGGCACACCCAGAAGGGGCCACAGGAAGATCCCAGGGAGTCCTCTCCATCTCCACTCCCACCTCCACTCGCTGCCAGCCCTTCTACCTGGTCTCCTCCCTGGGTCTACAGGACTGCTGGCTGAGGCCTGGGGCAGACTGCAGGGGTGGGGCCTGCCCTCCGAGCTCAGGGCCCTTCTCTTTCTCAGACACTCTTCTACACATCACCAAAGACTTTCAAGCCCAGCCCAATGGCCCTCCTCCCCACCTACACCCACCAAGTGAACACCCCCTCTTCATCAGTGCTCCTGCCACATTTGACCTCTGTTATACTCCAGGAAGGACAGTAAGCAGTGGCAGAAAAGGCAGGGCTGAGGGGACAAATGCAGCCCCTGCCACTCCCAGGCTGGGGAACCCTGGACACCCCTCAGACAGCCCTGACTGAACTGATTCTGCACACAGTTGACACAAAGTGAGACTGGATGGGCGATACCCCCCAACACACAAAGTTCTCTTCTCATCTGCCCAGATGAGGGCCCCTGCCTCAGCCACTGTTAGGGTCTCCCTTCTGCACCCTCCTTAGATGCCCCCACCTTGTGGTAGAGGGTGAGTGGGTCTGGCCGGCCAGGGGTGGGCTCCAGCTCCTCTAGATCTGCCAGGTTCCCTAAGGCCATGGGGTACCTAGGAAAGGATCATAATTCAGGCTGCCACCCAGCCCCCCGGCCTCACCAGGCGCAGCCTGGCCACTTCCCTCTACTGACCTTTCCAGATGTCCCAGGTCATAGAGCAGCCAGAGCAGCTTCTAGGAGCCGAAGGAGAGAGTTATGAGCCACGG | CGCCGGGCGGGCCGGCAGGCGGGCGGGCGCGAGCTGCGGAGCCGGCGCGGGGCGGCGCGGGGCGGGGCGGGCGCCCGTGGCTCTGAGGCCGCGGGGGCGGGGCTGAGGCCCGGGGGCGGGGCCGCGCCGGGGATGCCCCACCGCCAGTCCGGGAGGAGGCGCCCGCGGGACGGGCCCTCGGCGGCGCGGGGAAGCCCCAAGGCCGGGGCGGAGCCTACGTCCTTCCGCCGCCACTGTCGCTCGCGCTCCACAGGTAGGGAGCGCAAAGTCCCGGGAGCCAGAAGACAGAGGGAAGAGGGGGCGCTCCACTCCCCGCCCCATCCCCAATTTCCCAGATAAACATGGACTTGCGCTTTATATTTTTTTTAACAAAATGTATTCATCTTTCTTGGAACTGAAAAATAAATCTATGTACAAAACAGGAAGAGATCAGGCTCTTGTCACCCACTCCTAACCCTCTGCAGATTTCCTCCGGGATGCTCCGAGATGGGCTGGACCTCTGGGAGGTTCCCAGAGGGTCGGAAGGGAGGTCCTGCTCTGATCCGGGGCCAGTTTCGTCAGGAAGAGGGCGGGGCTCAGGATGCTCATAGGCTGGGGGCGGAGTTTTGTGTCCCAGACTCGGGATACGAAGGAGAGGAAACTAGGATTTCCAAATTCTGGAGCAGGACTGAAGTTATTTGGGGCAGGGAGCTTGGATTCGCAAGATATGGAATTCTGAAGTGCGGAAATATACTCCTAGGGGCTGAGTGGTCCTAGGCTCCCGGGCTGGAGGTGGGACCTGTGCTCCTTGGGTTAAGGGTGAAACCTCAGCTCCTACAAGCTGGGAGGAGCCCTGAGTAACGTTGGTCTGGCTCTAGGTGAGCGGTTCCGAGGAGGAGCTTGGGTTTCTAGGGGCTGGGCCTTTAAAGACTGGTAATTAGGACCCAGCGTGAGGTTTCCATTGGCCGGCTGGGATTCTGGGAGAAGAGACCTATATTCTAACGACTGGGGCAGAGCCCTGGGTTCTGAGCTGGAGAAAATCGTGGGTTTGATACAGACTGTACTCGGGACCGGGAACCTAGGGTTTGGGTAGAGGTGAGGCCTGTCCCCTTTGGGCTGGGGGCAGAACATGGGCTCAGAGTTGGGGGACTAAGGGCGGAGCCTGGGTCCCCACAAGCGGTCCGAAGTCCCCAGTAGTTCAGAGGCCTTTGCGCTGCCGCTTGAGGAAAGACAGAGTGTAGTCACTAGGGGTGGACACTTTCTGCTTCTTCATCTGCACTTGCGACTGTGCCGTGAGTTGCAGCTTGATGGCGCTCGAGTTGATCTTGGTGGCCACCAGCAGCTCCTTCATGCCCTTCATCTTCTCACTCTGGAAAGTGAGCACTGGACCCTCCGGCGGTGGTGATGCTGTGGGTGCTGGCACCTGAGCCGTGCTGCCACCTTCAGGGCCTCGGGCTGTGCCAGCGACAGTCCCAGGAGGCTTCCGGGGGGGTCCTGACACTGCACCCTGGCCGGTGCCCAGGCCCTTGTCCAGTGCTGGCTTCTTGGGCGGCGGGGGCTCCTCTGGCTTGGACTCCCGCCGTGGGCCCCGCCGCCGGCCTTCCCGGGCTTCCTCGCCCCACGGCTCCTCGGCCTCGGCCGCCTCGGCCTCTCGGCTCACTATGCGCACCTTCTGCCGCACCTGGGCCAGTGGGGAGAGCAAGGTGAGAGCAAGGTTGCCGGCCAGTGGCTGGAACTCCAGGACCCTGCTCTGGCCATCCCATCCCACCCAGGGGGTCTCAGTCCCATCGGCACCCAAGGGGATGGGCAGATGCTGCCCCTGGGCCAGAAAAGTCTGACAAGCCCGTGGCTGCTGTCACCACCTGTAGTGCCCAGACCTCTGTGCAGCTGTCCCTCACCTGTCCCTCAAAACGGCCTAGGGACTGCACAAGAAAGGTGGCCCAGCCCACATGCAGCACAGGCGTGGGACTGCCCTCCTCCCATTTGCAGATGCCGTCGTAGAATCGCAGCAGGTGGGCGAAGCACTCAGGGTCCTGGAGGGCGGAACCTTGGCTCTGGGTGCCCTGGACGGGGGGAAGGGAGGGCACAGATCAGTCTCTTACTCACCCCTTAGCAGAGGGCACAGGCCAGGCCCCCCACCTAGGCAAAGACCCCTGGCTCCAGAAAAGGTAAGCATAGGTTGGGAACATTCTTAGAACCTCTTTCCTTTTATAAAGCCAATCCATAGCCAGGACGTACCATCCCTACCTCCACCCCTCAGCTGAGGGAGGGAGTCTGGCCATGAAACTGAAGGCACAGGGTAGAAACCTCTAAAATACCTTCAGTCCCGTCCAACGTGGGCCCAGGACCTCAGTTATAGCAAAAGGGAACATAGCTGTCTGCTCAGGGCCACCTTCCTCCTGCCATCCCTAATCCCGTACATGCAGCCCCCATGGCCTGTGGAAGGGAGCCCTGTCCAGGTGGGAGGCTGGACACAGGCTGGAGCTCCAGCCTTTCACCTGGCTTTGCTCCCCCGGCCGCTCCTCGCCCGCCTCCAGCAAGCTGGCTGCCTCCTTCAGCAGGTTGGGGATGACATCATTGGCTACTTCAAAGAACTCCTTGTAGATCTCCTCGTCTTCCCGGCAGTAGTTGTAGCTGTGAGAGCAGTGGGGTCTCTGTAGGGTCTGAAGGGGTCTCACCATCGGGGGTAGCCCCAGGGACCTGGCGGGGGATGGAGCCCCCAGGGGCTGGGGGAGTAGGTGGGGTCCTCACTGCAAAATGATGCTGTCTGGGTCAGCCCAGAGGAAGAAAGCAAGAATGAGGAGGGGGGCATGGGGCCGAGGGTGGAAGTCCCACTGCTGGATGATGGTGGTTAAACATTGGAGATTTGAGACTGTTCTGAGAAAAAAAAAATTAGGAGGAGAGGGGAGGGAGGGAAAGATGTGACACCTTAATCAGGGTCCCTACCTCCTGGGTAATGGTGGCCTTGCTGCCTAGGGACTGGATGGAAAGGGGATGGGGCGTGGGAGCCAGGCCTCAGTCCTGGACGAGGGTGGTTGGAAACTGATGGAGGGGAAGAAAGGACAGGCTGCAGGCCCTAGTAGGGGGATCCTCACTCCTGGATGACAGTGGCCGTGTCCGCCCAGGCCTGCAGGGCTTCCCGCACATTGCGGTTGCGACAGTGGTAGCCAGCCAGGTACATGTAGGGGTAGATGTGTTCATCCCGATAGTAGGTCTTGGCTGAGGCAATGCCCTGGATGGAGGTGAGGCAGAGGATCCTCAGGGAGGCAGCCCCAGCTGCCCTGCTGGCACAAATGCCCCACCAGGGCACACCCAGAAGGGGCCACAGGAAGATCCCAGGGAGTCCTCTCCATCTCCACTCCCACCTCCACTCGCTGCCAGCCCTTCTACCTGGTCTCCTCCCTGGGTCTACAGGACTGCTGGCTGAGGCCTGGGGCAGACTGCAGGGGTGGGGCCTGCCCTCCGAGCTCAGGGCCCTTCTCTTTCTCAGACACTCTTCTACACATCACCAAAGACTTTCAAGCCCAGCCCAATGGCCCTCCTCCCCACCTACACCCACCAAGTGAACACCCCCTCTTCATCAGTGCTCCTGCCACATTTGACCTCTGTTATACTCCAGGAAGGACAGTAAGCAGTGGCAGAAAAGGCAGGGCTGAGGGGACAAATGCAGCCCCTGCCACTCCCAGGCTGGGGAACCCTGGACACCCCTCAGACAGCCCTGACTGAACTGATTCTGCACACAGTTGACACAAAGTGAGACTGGATGGGCGATACCCCCCAACACACAAAGTTCTCTTCTCATCTGCCCAGATGAGGGCCCCTGCCTCAGCCACTGTTAGGGTCTCCCTTCTGCACCCTCCTTAGATGCCCCCACCTTGTGGTAGAGGGTGAGTGGGTCTGGCCGGCCAGGGGTGGGCTCCAGCTCCTCTAGATCTGCCAGGTTCCCTAAGGCCATGGGGTACCTAGGAAAGGATCATAATTCAGGCTGCCACCCAGCCCCCCGGCCTCACCAGGCGCAGCCTGGCCACTTCCCTCTACTGACCTTTCCAGATGTCCCAGGTCATAGAGCAGCCAGAGCAGCTTCTAGGAGCCGAAGGAGAGAGTTATGAGCCACGGN | benign | 177,723 |
Variant at chromosome position 64805645, chromosome 11, gene MEN1 (menin 1): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Multiple_endocrine_neoplasia,_type_1'] | TCACCCACTCCTAACCCTCTGCAGATTTCCTCCGGGATGCTCCGAGATGGGCTGGACCTCTGGGAGGTTCCCAGAGGGTCGGAAGGGAGGTCCTGCTCTGATCCGGGGCCAGTTTCGTCAGGAAGAGGGCGGGGCTCAGGATGCTCATAGGCTGGGGGCGGAGTTTTGTGTCCCAGACTCGGGATACGAAGGAGAGGAAACTAGGATTTCCAAATTCTGGAGCAGGACTGAAGTTATTTGGGGCAGGGAGCTTGGATTCGCAAGATATGGAATTCTGAAGTGCGGAAATATACTCCTAGGGGCTGAGTGGTCCTAGGCTCCCGGGCTGGAGGTGGGACCTGTGCTCCTTGGGTTAAGGGTGAAACCTCAGCTCCTACAAGCTGGGAGGAGCCCTGAGTAACGTTGGTCTGGCTCTAGGTGAGCGGTTCCGAGGAGGAGCTTGGGTTTCTAGGGGCTGGGCCTTTAAAGACTGGTAATTAGGACCCAGCGTGAGGTTTCCATTGGCCGGCTGGGATTCTGGGAGAAGAGACCTATATTCTAACGACTGGGGCAGAGCCCTGGGTTCTGAGCTGGAGAAAATCGTGGGTTTGATACAGACTGTACTCGGGACCGGGAACCTAGGGTTTGGGTAGAGGTGAGGCCTGTCCCCTTTGGGCTGGGGGCAGAACATGGGCTCAGAGTTGGGGGACTAAGGGCGGAGCCTGGGTCCCCACAAGCGGTCCGAAGTCCCCAGTAGTTCAGAGGCCTTTGCGCTGCCGCTTGAGGAAAGACAGAGTGTAGTCACTAGGGGTGGACACTTTCTGCTTCTTCATCTGCACTTGCGACTGTGCCGTGAGTTGCAGCTTGATGGCGCTCGAGTTGATCTTGGTGGCCACCAGCAGCTCCTTCATGCCCTTCATCTTCTCACTCTGGAAAGTGAGCACTGGACCCTCCGGCGGTGGTGATGCTGTGGGTGCTGGCACCTGAGCCGTGCTGCCACCTTCAGGGCCTCGGGCTGTGCCAGCGACAGTCCCAGGAGGCTTCCGGGGGGGTCCTGACACTGCACCCTGGCCGGTGCCCAGGCCCTTGTCCAGTGCTGGCTTCTTGGGCGGCGGGGGCTCCTCTGGCTTGGACTCCCGCCGTGGGCCCCGCCGCCGGCCTTCCCGGGCTTCCTCGCCCCACGGCTCCTCGGCCTCGGCCGCCTCGGCCTCTCGGCTCACTATGCGCACCTTCTGCCGCACCTGGGCCAGTGGGGAGAGCAAGGTGAGAGCAAGGTTGCCGGCCAGTGGCTGGAACTCCAGGACCCTGCTCTGGCCATCCCATCCCACCCAGGGGGTCTCAGTCCCATCGGCACCCAAGGGGATGGGCAGATGCTGCCCCTGGGCCAGAAAAGTCTGACAAGCCCGTGGCTGCTGTCACCACCTGTAGTGCCCAGACCTCTGTGCAGCTGTCCCTCACCTGTCCCTCAAAACGGCCTAGGGACTGCACAAGAAAGGTGGCCCAGCCCACATGCAGCACAGGCGTGGGACTGCCCTCCTCCCATTTGCAGATGCCGTCGTAGAATCGCAGCAGGTGGGCGAAGCACTCAGGGTCCTGGAGGGCGGAACCTTGGCTCTGGGTGCCCTGGACGAGGGGGAAGGGAGGGCACAGATCAGTCTCTTACTCACCCCTTAGCAGAGGGCACAGGCCAGGCCCCCCACCTAGGCAAAGACCCCTGGCTCCAGAAAAGGTAAGCATAGGTTGGGAACATTCTTAGAACCTCTTTCCTTTTATAAAGCCAATCCATAGCCAGGACGTACCATCCCTACCTCCACCCCTCAGCTGAGGGAGGGAGTCTGGCCATGAAACTGAAGGCACAGGGTAGAAACCTCTAAAATACCTTCAGTCCCGTCCAACGTGGGCCCAGGACCTCAGTTATAGCAAAAGGGAACATAGCTGTCTGCTCAGGGCCACCTTCCTCCTGCCATCCCTAATCCCGTACATGCAGCCCCCATGGCCTGTGGAAGGGAGCCCTGTCCAGGTGGGAGGCTGGACACAGGCTGGAGCTCCAGCCTTTCACCTGGCTTTGCTCCCCCGGCCGCTCCTCGCCCGCCTCCAGCAAGCTGGCTGCCTCCTTCAGCAGGTTGGGGATGACATCATTGGCTACTTCAAAGAACTCCTTGTAGATCTCCTCGTCTTCCCGGCAGTAGTTGTAGCTGTGAGAGCAGTGGGGTCTCTGTAGGGTCTGAAGGGGTCTCACCATCGGGGGTAGCCCCAGGGACCTGGCGGGGGATGGAGCCCCCAGGGGCTGGGGGAGTAGGTGGGGTCCTCACTGCAAAATGATGCTGTCTGGGTCAGCCCAGAGGAAGAAAGCAAGAATGAGGAGGGGGGCATGGGGCCGAGGGTGGAAGTCCCACTGCTGGATGATGGTGGTTAAACATTGGAGATTTGAGACTGTTCTGAGAAAAAAAAAATTAGGAGGAGAGGGGAGGGAGGGAAAGATGTGACACCTTAATCAGGGTCCCTACCTCCTGGGTAATGGTGGCCTTGCTGCCTAGGGACTGGATGGAAAGGGGATGGGGCGTGGGAGCCAGGCCTCAGTCCTGGACGAGGGTGGTTGGAAACTGATGGAGGGGAAGAAAGGACAGGCTGCAGGCCCTAGTAGGGGGATCCTCACTCCTGGATGACAGTGGCCGTGTCCGCCCAGGCCTGCAGGGCTTCCCGCACATTGCGGTTGCGACAGTGGTAGCCAGCCAGGTACATGTAGGGGTAGATGTGTTCATCCCGATAGTAGGTCTTGGCTGAGGCAATGCCCTGGATGGAGGTGAGGCAGAGGATCCTCAGGGAGGCAGCCCCAGCTGCCCTGCTGGCACAAATGCCCCACCAGGGCACACCCAGAAGGGGCCACAGGAAGATCCCAGGGAGTCCTCTCCATCTCCACTCCCACCTCCACTCGCTGCCAGCCCTTCTACCTGGTCTCCTCCCTGGGTCTACAGGACTGCTGGCTGAGGCCTGGGGCAGACTGCAGGGGTGGGGCCTGCCCTCCGAGCTCAGGGCCCTTCTCTTTCTCAGACACTCTTCTACACATCACCAAAGACTTTCAAGCCCAGCCCAATGGCCCTCCTCCCCACCTACACCCACCAAGTGAACACCCCCTCTTCATCAGTGCTCCTGCCACATTTGACCTCTGTTATACTCCAGGAAGGACAGTAAGCAGTGGCAGAAAAGGCAGGGCTGAGGGGACAAATGCAGCCCCTGCCACTCCCAGGCTGGGGAACCCTGGACACCCCTCAGACAGCCCTGACTGAACTGATTCTGCACACAGTTGACACAAAGTGAGACTGGATGGGCGATACCCCCCAACACACAAAGTTCTCTTCTCATCTGCCCAGATGAGGGCCCCTGCCTCAGCCACTGTTAGGGTCTCCCTTCTGCACCCTCCTTAGATGCCCCCACCTTGTGGTAGAGGGTGAGTGGGTCTGGCCGGCCAGGGGTGGGCTCCAGCTCCTCTAGATCTGCCAGGTTCCCTAAGGCCATGGGGTACCTAGGAAAGGATCATAATTCAGGCTGCCACCCAGCCCCCCGGCCTCACCAGGCGCAGCCTGGCCACTTCCCTCTACTGACCTTTCCAGATGTCCCAGGTCATAGAGCAGCCAGAGCAGCTTCTAGGAGCCGAAGGAGAGAGTTATGAGCCACGGAACAGGGAGGAGAACGGGTCCTTAGCCTATCGGGCAGAGGTGGGGGTCAGAACCAACAGGGACCACCCACCATGTGGAAGGGCCAAAATTCTGGGACCAGCCCTTTAATGGAGTCAAAGCAATTTCACATCTCAATTCTACTCTCCCAAGAGCCCTGGGAAAGGCCAGGCCAGGAATTACTAACCCATTTTTCCAGGAGGGGAAGCTGAAGCTCAGGAAGGGAAAGTGCCCCTGCCCAGGGTCCCACAGCAAGTCAAGTCTGGCCTAGCCCAGTCCTGCCCCATTGGCTCAGCCCTCACCTGCTGCAGCTGCAGAAGCTCCAGCGAGTCGGTGTGCAGGTCAATGGAAGGGTTGATGGCACACACCATGAACGCCACCTCCATCTTGCGGTCACAGCGCATGTATGATCCTTTCAGGTACAGCCAGCTCTTAGGGGGGGA | TCACCCACTCCTAACCCTCTGCAGATTTCCTCCGGGATGCTCCGAGATGGGCTGGACCTCTGGGAGGTTCCCAGAGGGTCGGAAGGGAGGTCCTGCTCTGATCCGGGGCCAGTTTCGTCAGGAAGAGGGCGGGGCTCAGGATGCTCATAGGCTGGGGGCGGAGTTTTGTGTCCCAGACTCGGGATACGAAGGAGAGGAAACTAGGATTTCCAAATTCTGGAGCAGGACTGAAGTTATTTGGGGCAGGGAGCTTGGATTCGCAAGATATGGAATTCTGAAGTGCGGAAATATACTCCTAGGGGCTGAGTGGTCCTAGGCTCCCGGGCTGGAGGTGGGACCTGTGCTCCTTGGGTTAAGGGTGAAACCTCAGCTCCTACAAGCTGGGAGGAGCCCTGAGTAACGTTGGTCTGGCTCTAGGTGAGCGGTTCCGAGGAGGAGCTTGGGTTTCTAGGGGCTGGGCCTTTAAAGACTGGTAATTAGGACCCAGCGTGAGGTTTCCATTGGCCGGCTGGGATTCTGGGAGAAGAGACCTATATTCTAACGACTGGGGCAGAGCCCTGGGTTCTGAGCTGGAGAAAATCGTGGGTTTGATACAGACTGTACTCGGGACCGGGAACCTAGGGTTTGGGTAGAGGTGAGGCCTGTCCCCTTTGGGCTGGGGGCAGAACATGGGCTCAGAGTTGGGGGACTAAGGGCGGAGCCTGGGTCCCCACAAGCGGTCCGAAGTCCCCAGTAGTTCAGAGGCCTTTGCGCTGCCGCTTGAGGAAAGACAGAGTGTAGTCACTAGGGGTGGACACTTTCTGCTTCTTCATCTGCACTTGCGACTGTGCCGTGAGTTGCAGCTTGATGGCGCTCGAGTTGATCTTGGTGGCCACCAGCAGCTCCTTCATGCCCTTCATCTTCTCACTCTGGAAAGTGAGCACTGGACCCTCCGGCGGTGGTGATGCTGTGGGTGCTGGCACCTGAGCCGTGCTGCCACCTTCAGGGCCTCGGGCTGTGCCAGCGACAGTCCCAGGAGGCTTCCGGGGGGGTCCTGACACTGCACCCTGGCCGGTGCCCAGGCCCTTGTCCAGTGCTGGCTTCTTGGGCGGCGGGGGCTCCTCTGGCTTGGACTCCCGCCGTGGGCCCCGCCGCCGGCCTTCCCGGGCTTCCTCGCCCCACGGCTCCTCGGCCTCGGCCGCCTCGGCCTCTCGGCTCACTATGCGCACCTTCTGCCGCACCTGGGCCAGTGGGGAGAGCAAGGTGAGAGCAAGGTTGCCGGCCAGTGGCTGGAACTCCAGGACCCTGCTCTGGCCATCCCATCCCACCCAGGGGGTCTCAGTCCCATCGGCACCCAAGGGGATGGGCAGATGCTGCCCCTGGGCCAGAAAAGTCTGACAAGCCCGTGGCTGCTGTCACCACCTGTAGTGCCCAGACCTCTGTGCAGCTGTCCCTCACCTGTCCCTCAAAACGGCCTAGGGACTGCACAAGAAAGGTGGCCCAGCCCACATGCAGCACAGGCGTGGGACTGCCCTCCTCCCATTTGCAGATGCCGTCGTAGAATCGCAGCAGGTGGGCGAAGCACTCAGGGTCCTGGAGGGCGGAACCTTGGCTCTGGGTGCCCTGGACGAGGGGGAAGGGAGGGCACAGATCAGTCTCTTACTCACCCCTTAGCAGAGGGCACAGGCCAGGCCCCCCACCTAGGCAAAGACCCCTGGCTCCAGAAAAGGTAAGCATAGGTTGGGAACATTCTTAGAACCTCTTTCCTTTTATAAAGCCAATCCATAGCCAGGACGTACCATCCCTACCTCCACCCCTCAGCTGAGGGAGGGAGTCTGGCCATGAAACTGAAGGCACAGGGTAGAAACCTCTAAAATACCTTCAGTCCCGTCCAACGTGGGCCCAGGACCTCAGTTATAGCAAAAGGGAACATAGCTGTCTGCTCAGGGCCACCTTCCTCCTGCCATCCCTAATCCCGTACATGCAGCCCCCATGGCCTGTGGAAGGGAGCCCTGTCCAGGTGGGAGGCTGGACACAGGCTGGAGCTCCAGCCTTTCACCTGGCTTTGCTCCCCGGCCGCTCCTCGCCCGCCTCCAGCAAGCTGGCTGCCTCCTTCAGCAGGTTGGGGATGACATCATTGGCTACTTCAAAGAACTCCTTGTAGATCTCCTCGTCTTCCCGGCAGTAGTTGTAGCTGTGAGAGCAGTGGGGTCTCTGTAGGGTCTGAAGGGGTCTCACCATCGGGGGTAGCCCCAGGGACCTGGCGGGGGATGGAGCCCCCAGGGGCTGGGGGAGTAGGTGGGGTCCTCACTGCAAAATGATGCTGTCTGGGTCAGCCCAGAGGAAGAAAGCAAGAATGAGGAGGGGGGCATGGGGCCGAGGGTGGAAGTCCCACTGCTGGATGATGGTGGTTAAACATTGGAGATTTGAGACTGTTCTGAGAAAAAAAAAATTAGGAGGAGAGGGGAGGGAGGGAAAGATGTGACACCTTAATCAGGGTCCCTACCTCCTGGGTAATGGTGGCCTTGCTGCCTAGGGACTGGATGGAAAGGGGATGGGGCGTGGGAGCCAGGCCTCAGTCCTGGACGAGGGTGGTTGGAAACTGATGGAGGGGAAGAAAGGACAGGCTGCAGGCCCTAGTAGGGGGATCCTCACTCCTGGATGACAGTGGCCGTGTCCGCCCAGGCCTGCAGGGCTTCCCGCACATTGCGGTTGCGACAGTGGTAGCCAGCCAGGTACATGTAGGGGTAGATGTGTTCATCCCGATAGTAGGTCTTGGCTGAGGCAATGCCCTGGATGGAGGTGAGGCAGAGGATCCTCAGGGAGGCAGCCCCAGCTGCCCTGCTGGCACAAATGCCCCACCAGGGCACACCCAGAAGGGGCCACAGGAAGATCCCAGGGAGTCCTCTCCATCTCCACTCCCACCTCCACTCGCTGCCAGCCCTTCTACCTGGTCTCCTCCCTGGGTCTACAGGACTGCTGGCTGAGGCCTGGGGCAGACTGCAGGGGTGGGGCCTGCCCTCCGAGCTCAGGGCCCTTCTCTTTCTCAGACACTCTTCTACACATCACCAAAGACTTTCAAGCCCAGCCCAATGGCCCTCCTCCCCACCTACACCCACCAAGTGAACACCCCCTCTTCATCAGTGCTCCTGCCACATTTGACCTCTGTTATACTCCAGGAAGGACAGTAAGCAGTGGCAGAAAAGGCAGGGCTGAGGGGACAAATGCAGCCCCTGCCACTCCCAGGCTGGGGAACCCTGGACACCCCTCAGACAGCCCTGACTGAACTGATTCTGCACACAGTTGACACAAAGTGAGACTGGATGGGCGATACCCCCCAACACACAAAGTTCTCTTCTCATCTGCCCAGATGAGGGCCCCTGCCTCAGCCACTGTTAGGGTCTCCCTTCTGCACCCTCCTTAGATGCCCCCACCTTGTGGTAGAGGGTGAGTGGGTCTGGCCGGCCAGGGGTGGGCTCCAGCTCCTCTAGATCTGCCAGGTTCCCTAAGGCCATGGGGTACCTAGGAAAGGATCATAATTCAGGCTGCCACCCAGCCCCCCGGCCTCACCAGGCGCAGCCTGGCCACTTCCCTCTACTGACCTTTCCAGATGTCCCAGGTCATAGAGCAGCCAGAGCAGCTTCTAGGAGCCGAAGGAGAGAGTTATGAGCCACGGAACAGGGAGGAGAACGGGTCCTTAGCCTATCGGGCAGAGGTGGGGGTCAGAACCAACAGGGACCACCCACCATGTGGAAGGGCCAAAATTCTGGGACCAGCCCTTTAATGGAGTCAAAGCAATTTCACATCTCAATTCTACTCTCCCAAGAGCCCTGGGAAAGGCCAGGCCAGGAATTACTAACCCATTTTTCCAGGAGGGGAAGCTGAAGCTCAGGAAGGGAAAGTGCCCCTGCCCAGGGTCCCACAGCAAGTCAAGTCTGGCCTAGCCCAGTCCTGCCCCATTGGCTCAGCCCTCACCTGCTGCAGCTGCAGAAGCTCCAGCGAGTCGGTGTGCAGGTCAATGGAAGGGTTGATGGCACACACCATGAACGCCACCTCCATCTTGCGGTCACAGCGCATGTATGATCCTTTCAGGTACAGCCAGCTCTTAGGGGGGGAN | pathogenic | 177,733 |
Gene MEN1 (menin 1) variant at chromosome 11, position 64805683—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Multiple_endocrine_neoplasia,_type_1'] | GCTCCGAGATGGGCTGGACCTCTGGGAGGTTCCCAGAGGGTCGGAAGGGAGGTCCTGCTCTGATCCGGGGCCAGTTTCGTCAGGAAGAGGGCGGGGCTCAGGATGCTCATAGGCTGGGGGCGGAGTTTTGTGTCCCAGACTCGGGATACGAAGGAGAGGAAACTAGGATTTCCAAATTCTGGAGCAGGACTGAAGTTATTTGGGGCAGGGAGCTTGGATTCGCAAGATATGGAATTCTGAAGTGCGGAAATATACTCCTAGGGGCTGAGTGGTCCTAGGCTCCCGGGCTGGAGGTGGGACCTGTGCTCCTTGGGTTAAGGGTGAAACCTCAGCTCCTACAAGCTGGGAGGAGCCCTGAGTAACGTTGGTCTGGCTCTAGGTGAGCGGTTCCGAGGAGGAGCTTGGGTTTCTAGGGGCTGGGCCTTTAAAGACTGGTAATTAGGACCCAGCGTGAGGTTTCCATTGGCCGGCTGGGATTCTGGGAGAAGAGACCTATATTCTAACGACTGGGGCAGAGCCCTGGGTTCTGAGCTGGAGAAAATCGTGGGTTTGATACAGACTGTACTCGGGACCGGGAACCTAGGGTTTGGGTAGAGGTGAGGCCTGTCCCCTTTGGGCTGGGGGCAGAACATGGGCTCAGAGTTGGGGGACTAAGGGCGGAGCCTGGGTCCCCACAAGCGGTCCGAAGTCCCCAGTAGTTCAGAGGCCTTTGCGCTGCCGCTTGAGGAAAGACAGAGTGTAGTCACTAGGGGTGGACACTTTCTGCTTCTTCATCTGCACTTGCGACTGTGCCGTGAGTTGCAGCTTGATGGCGCTCGAGTTGATCTTGGTGGCCACCAGCAGCTCCTTCATGCCCTTCATCTTCTCACTCTGGAAAGTGAGCACTGGACCCTCCGGCGGTGGTGATGCTGTGGGTGCTGGCACCTGAGCCGTGCTGCCACCTTCAGGGCCTCGGGCTGTGCCAGCGACAGTCCCAGGAGGCTTCCGGGGGGGTCCTGACACTGCACCCTGGCCGGTGCCCAGGCCCTTGTCCAGTGCTGGCTTCTTGGGCGGCGGGGGCTCCTCTGGCTTGGACTCCCGCCGTGGGCCCCGCCGCCGGCCTTCCCGGGCTTCCTCGCCCCACGGCTCCTCGGCCTCGGCCGCCTCGGCCTCTCGGCTCACTATGCGCACCTTCTGCCGCACCTGGGCCAGTGGGGAGAGCAAGGTGAGAGCAAGGTTGCCGGCCAGTGGCTGGAACTCCAGGACCCTGCTCTGGCCATCCCATCCCACCCAGGGGGTCTCAGTCCCATCGGCACCCAAGGGGATGGGCAGATGCTGCCCCTGGGCCAGAAAAGTCTGACAAGCCCGTGGCTGCTGTCACCACCTGTAGTGCCCAGACCTCTGTGCAGCTGTCCCTCACCTGTCCCTCAAAACGGCCTAGGGACTGCACAAGAAAGGTGGCCCAGCCCACATGCAGCACAGGCGTGGGACTGCCCTCCTCCCATTTGCAGATGCCGTCGTAGAATCGCAGCAGGTGGGCGAAGCACTCAGGGTCCTGGAGGGCGGAACCTTGGCTCTGGGTGCCCTGGACGAGGGGGAAGGGAGGGCACAGATCAGTCTCTTACTCACCCCTTAGCAGAGGGCACAGGCCAGGCCCCCCACCTAGGCAAAGACCCCTGGCTCCAGAAAAGGTAAGCATAGGTTGGGAACATTCTTAGAACCTCTTTCCTTTTATAAAGCCAATCCATAGCCAGGACGTACCATCCCTACCTCCACCCCTCAGCTGAGGGAGGGAGTCTGGCCATGAAACTGAAGGCACAGGGTAGAAACCTCTAAAATACCTTCAGTCCCGTCCAACGTGGGCCCAGGACCTCAGTTATAGCAAAAGGGAACATAGCTGTCTGCTCAGGGCCACCTTCCTCCTGCCATCCCTAATCCCGTACATGCAGCCCCCATGGCCTGTGGAAGGGAGCCCTGTCCAGGTGGGAGGCTGGACACAGGCTGGAGCTCCAGCCTTTCACCTGGCTTTGCTCCCCCGGCCGCTCCTCGCCCGCCTCCAGCAAGCTGGCTGCCTCCTTCAGCAGGTTGGGGATGACATCATTGGCTACTTCAAAGAACTCCTTGTAGATCTCCTCGTCTTCCCGGCAGTAGTTGTAGCTGTGAGAGCAGTGGGGTCTCTGTAGGGTCTGAAGGGGTCTCACCATCGGGGGTAGCCCCAGGGACCTGGCGGGGGATGGAGCCCCCAGGGGCTGGGGGAGTAGGTGGGGTCCTCACTGCAAAATGATGCTGTCTGGGTCAGCCCAGAGGAAGAAAGCAAGAATGAGGAGGGGGGCATGGGGCCGAGGGTGGAAGTCCCACTGCTGGATGATGGTGGTTAAACATTGGAGATTTGAGACTGTTCTGAGAAAAAAAAAATTAGGAGGAGAGGGGAGGGAGGGAAAGATGTGACACCTTAATCAGGGTCCCTACCTCCTGGGTAATGGTGGCCTTGCTGCCTAGGGACTGGATGGAAAGGGGATGGGGCGTGGGAGCCAGGCCTCAGTCCTGGACGAGGGTGGTTGGAAACTGATGGAGGGGAAGAAAGGACAGGCTGCAGGCCCTAGTAGGGGGATCCTCACTCCTGGATGACAGTGGCCGTGTCCGCCCAGGCCTGCAGGGCTTCCCGCACATTGCGGTTGCGACAGTGGTAGCCAGCCAGGTACATGTAGGGGTAGATGTGTTCATCCCGATAGTAGGTCTTGGCTGAGGCAATGCCCTGGATGGAGGTGAGGCAGAGGATCCTCAGGGAGGCAGCCCCAGCTGCCCTGCTGGCACAAATGCCCCACCAGGGCACACCCAGAAGGGGCCACAGGAAGATCCCAGGGAGTCCTCTCCATCTCCACTCCCACCTCCACTCGCTGCCAGCCCTTCTACCTGGTCTCCTCCCTGGGTCTACAGGACTGCTGGCTGAGGCCTGGGGCAGACTGCAGGGGTGGGGCCTGCCCTCCGAGCTCAGGGCCCTTCTCTTTCTCAGACACTCTTCTACACATCACCAAAGACTTTCAAGCCCAGCCCAATGGCCCTCCTCCCCACCTACACCCACCAAGTGAACACCCCCTCTTCATCAGTGCTCCTGCCACATTTGACCTCTGTTATACTCCAGGAAGGACAGTAAGCAGTGGCAGAAAAGGCAGGGCTGAGGGGACAAATGCAGCCCCTGCCACTCCCAGGCTGGGGAACCCTGGACACCCCTCAGACAGCCCTGACTGAACTGATTCTGCACACAGTTGACACAAAGTGAGACTGGATGGGCGATACCCCCCAACACACAAAGTTCTCTTCTCATCTGCCCAGATGAGGGCCCCTGCCTCAGCCACTGTTAGGGTCTCCCTTCTGCACCCTCCTTAGATGCCCCCACCTTGTGGTAGAGGGTGAGTGGGTCTGGCCGGCCAGGGGTGGGCTCCAGCTCCTCTAGATCTGCCAGGTTCCCTAAGGCCATGGGGTACCTAGGAAAGGATCATAATTCAGGCTGCCACCCAGCCCCCCGGCCTCACCAGGCGCAGCCTGGCCACTTCCCTCTACTGACCTTTCCAGATGTCCCAGGTCATAGAGCAGCCAGAGCAGCTTCTAGGAGCCGAAGGAGAGAGTTATGAGCCACGGAACAGGGAGGAGAACGGGTCCTTAGCCTATCGGGCAGAGGTGGGGGTCAGAACCAACAGGGACCACCCACCATGTGGAAGGGCCAAAATTCTGGGACCAGCCCTTTAATGGAGTCAAAGCAATTTCACATCTCAATTCTACTCTCCCAAGAGCCCTGGGAAAGGCCAGGCCAGGAATTACTAACCCATTTTTCCAGGAGGGGAAGCTGAAGCTCAGGAAGGGAAAGTGCCCCTGCCCAGGGTCCCACAGCAAGTCAAGTCTGGCCTAGCCCAGTCCTGCCCCATTGGCTCAGCCCTCACCTGCTGCAGCTGCAGAAGCTCCAGCGAGTCGGTGTGCAGGTCAATGGAAGGGTTGATGGCACACACCATGAACGCCACCTCCATCTTGCGGTCACAGCGCATGTATGATCCTTTCAGGTACAGCCAGCTCTTAGGGGGGGATGAGATCATTATGTCTCATGATGGCCCACCCTGTGCCT | GCTCCGAGATGGGCTGGACCTCTGGGAGGTTCCCAGAGGGTCGGAAGGGAGGTCCTGCTCTGATCCGGGGCCAGTTTCGTCAGGAAGAGGGCGGGGCTCAGGATGCTCATAGGCTGGGGGCGGAGTTTTGTGTCCCAGACTCGGGATACGAAGGAGAGGAAACTAGGATTTCCAAATTCTGGAGCAGGACTGAAGTTATTTGGGGCAGGGAGCTTGGATTCGCAAGATATGGAATTCTGAAGTGCGGAAATATACTCCTAGGGGCTGAGTGGTCCTAGGCTCCCGGGCTGGAGGTGGGACCTGTGCTCCTTGGGTTAAGGGTGAAACCTCAGCTCCTACAAGCTGGGAGGAGCCCTGAGTAACGTTGGTCTGGCTCTAGGTGAGCGGTTCCGAGGAGGAGCTTGGGTTTCTAGGGGCTGGGCCTTTAAAGACTGGTAATTAGGACCCAGCGTGAGGTTTCCATTGGCCGGCTGGGATTCTGGGAGAAGAGACCTATATTCTAACGACTGGGGCAGAGCCCTGGGTTCTGAGCTGGAGAAAATCGTGGGTTTGATACAGACTGTACTCGGGACCGGGAACCTAGGGTTTGGGTAGAGGTGAGGCCTGTCCCCTTTGGGCTGGGGGCAGAACATGGGCTCAGAGTTGGGGGACTAAGGGCGGAGCCTGGGTCCCCACAAGCGGTCCGAAGTCCCCAGTAGTTCAGAGGCCTTTGCGCTGCCGCTTGAGGAAAGACAGAGTGTAGTCACTAGGGGTGGACACTTTCTGCTTCTTCATCTGCACTTGCGACTGTGCCGTGAGTTGCAGCTTGATGGCGCTCGAGTTGATCTTGGTGGCCACCAGCAGCTCCTTCATGCCCTTCATCTTCTCACTCTGGAAAGTGAGCACTGGACCCTCCGGCGGTGGTGATGCTGTGGGTGCTGGCACCTGAGCCGTGCTGCCACCTTCAGGGCCTCGGGCTGTGCCAGCGACAGTCCCAGGAGGCTTCCGGGGGGGTCCTGACACTGCACCCTGGCCGGTGCCCAGGCCCTTGTCCAGTGCTGGCTTCTTGGGCGGCGGGGGCTCCTCTGGCTTGGACTCCCGCCGTGGGCCCCGCCGCCGGCCTTCCCGGGCTTCCTCGCCCCACGGCTCCTCGGCCTCGGCCGCCTCGGCCTCTCGGCTCACTATGCGCACCTTCTGCCGCACCTGGGCCAGTGGGGAGAGCAAGGTGAGAGCAAGGTTGCCGGCCAGTGGCTGGAACTCCAGGACCCTGCTCTGGCCATCCCATCCCACCCAGGGGGTCTCAGTCCCATCGGCACCCAAGGGGATGGGCAGATGCTGCCCCTGGGCCAGAAAAGTCTGACAAGCCCGTGGCTGCTGTCACCACCTGTAGTGCCCAGACCTCTGTGCAGCTGTCCCTCACCTGTCCCTCAAAACGGCCTAGGGACTGCACAAGAAAGGTGGCCCAGCCCACATGCAGCACAGGCGTGGGACTGCCCTCCTCCCATTTGCAGATGCCGTCGTAGAATCGCAGCAGGTGGGCGAAGCACTCAGGGTCCTGGAGGGCGGAACCTTGGCTCTGGGTGCCCTGGACGAGGGGGAAGGGAGGGCACAGATCAGTCTCTTACTCACCCCTTAGCAGAGGGCACAGGCCAGGCCCCCCACCTAGGCAAAGACCCCTGGCTCCAGAAAAGGTAAGCATAGGTTGGGAACATTCTTAGAACCTCTTTCCTTTTATAAAGCCAATCCATAGCCAGGACGTACCATCCCTACCTCCACCCCTCAGCTGAGGGAGGGAGTCTGGCCATGAAACTGAAGGCACAGGGTAGAAACCTCTAAAATACCTTCAGTCCCGTCCAACGTGGGCCCAGGACCTCAGTTATAGCAAAAGGGAACATAGCTGTCTGCTCAGGGCCACCTTCCTCCTGCCATCCCTAATCCCGTACATGCAGCCCCCATGGCCTGTGGAAGGGAGCCCTGTCCAGGTGGGAGGCTGGACACAGGCTGGAGCTCCAGCCTTTCACCTGGCTTTGCTCCCCCGGCCGCTCCTCGCCCGCCTCCAGCAAGCTGGCTGGCCTCCTTCAGCAGGTTGGGGATGACATCATTGGCTACTTCAAAGAACTCCTTGTAGATCTCCTCGTCTTCCCGGCAGTAGTTGTAGCTGTGAGAGCAGTGGGGTCTCTGTAGGGTCTGAAGGGGTCTCACCATCGGGGGTAGCCCCAGGGACCTGGCGGGGGATGGAGCCCCCAGGGGCTGGGGGAGTAGGTGGGGTCCTCACTGCAAAATGATGCTGTCTGGGTCAGCCCAGAGGAAGAAAGCAAGAATGAGGAGGGGGGCATGGGGCCGAGGGTGGAAGTCCCACTGCTGGATGATGGTGGTTAAACATTGGAGATTTGAGACTGTTCTGAGAAAAAAAAAATTAGGAGGAGAGGGGAGGGAGGGAAAGATGTGACACCTTAATCAGGGTCCCTACCTCCTGGGTAATGGTGGCCTTGCTGCCTAGGGACTGGATGGAAAGGGGATGGGGCGTGGGAGCCAGGCCTCAGTCCTGGACGAGGGTGGTTGGAAACTGATGGAGGGGAAGAAAGGACAGGCTGCAGGCCCTAGTAGGGGGATCCTCACTCCTGGATGACAGTGGCCGTGTCCGCCCAGGCCTGCAGGGCTTCCCGCACATTGCGGTTGCGACAGTGGTAGCCAGCCAGGTACATGTAGGGGTAGATGTGTTCATCCCGATAGTAGGTCTTGGCTGAGGCAATGCCCTGGATGGAGGTGAGGCAGAGGATCCTCAGGGAGGCAGCCCCAGCTGCCCTGCTGGCACAAATGCCCCACCAGGGCACACCCAGAAGGGGCCACAGGAAGATCCCAGGGAGTCCTCTCCATCTCCACTCCCACCTCCACTCGCTGCCAGCCCTTCTACCTGGTCTCCTCCCTGGGTCTACAGGACTGCTGGCTGAGGCCTGGGGCAGACTGCAGGGGTGGGGCCTGCCCTCCGAGCTCAGGGCCCTTCTCTTTCTCAGACACTCTTCTACACATCACCAAAGACTTTCAAGCCCAGCCCAATGGCCCTCCTCCCCACCTACACCCACCAAGTGAACACCCCCTCTTCATCAGTGCTCCTGCCACATTTGACCTCTGTTATACTCCAGGAAGGACAGTAAGCAGTGGCAGAAAAGGCAGGGCTGAGGGGACAAATGCAGCCCCTGCCACTCCCAGGCTGGGGAACCCTGGACACCCCTCAGACAGCCCTGACTGAACTGATTCTGCACACAGTTGACACAAAGTGAGACTGGATGGGCGATACCCCCCAACACACAAAGTTCTCTTCTCATCTGCCCAGATGAGGGCCCCTGCCTCAGCCACTGTTAGGGTCTCCCTTCTGCACCCTCCTTAGATGCCCCCACCTTGTGGTAGAGGGTGAGTGGGTCTGGCCGGCCAGGGGTGGGCTCCAGCTCCTCTAGATCTGCCAGGTTCCCTAAGGCCATGGGGTACCTAGGAAAGGATCATAATTCAGGCTGCCACCCAGCCCCCCGGCCTCACCAGGCGCAGCCTGGCCACTTCCCTCTACTGACCTTTCCAGATGTCCCAGGTCATAGAGCAGCCAGAGCAGCTTCTAGGAGCCGAAGGAGAGAGTTATGAGCCACGGAACAGGGAGGAGAACGGGTCCTTAGCCTATCGGGCAGAGGTGGGGGTCAGAACCAACAGGGACCACCCACCATGTGGAAGGGCCAAAATTCTGGGACCAGCCCTTTAATGGAGTCAAAGCAATTTCACATCTCAATTCTACTCTCCCAAGAGCCCTGGGAAAGGCCAGGCCAGGAATTACTAACCCATTTTTCCAGGAGGGGAAGCTGAAGCTCAGGAAGGGAAAGTGCCCCTGCCCAGGGTCCCACAGCAAGTCAAGTCTGGCCTAGCCCAGTCCTGCCCCATTGGCTCAGCCCTCACCTGCTGCAGCTGCAGAAGCTCCAGCGAGTCGGTGTGCAGGTCAATGGAAGGGTTGATGGCACACACCATGAACGCCACCTCCATCTTGCGGTCACAGCGCATGTATGATCCTTTCAGGTACAGCCAGCTCTTAGGGGGGGATGAGATCATTATGTCTCATGATGGCCCACCCTGTGCC | pathogenic | 177,745 |
A genetic alteration at chromosome 11, position 64805709, in gene MEN1 (menin 1)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Hereditary_cancer-predisposing_syndrome'] | AGGTTCCCAGAGGGTCGGAAGGGAGGTCCTGCTCTGATCCGGGGCCAGTTTCGTCAGGAAGAGGGCGGGGCTCAGGATGCTCATAGGCTGGGGGCGGAGTTTTGTGTCCCAGACTCGGGATACGAAGGAGAGGAAACTAGGATTTCCAAATTCTGGAGCAGGACTGAAGTTATTTGGGGCAGGGAGCTTGGATTCGCAAGATATGGAATTCTGAAGTGCGGAAATATACTCCTAGGGGCTGAGTGGTCCTAGGCTCCCGGGCTGGAGGTGGGACCTGTGCTCCTTGGGTTAAGGGTGAAACCTCAGCTCCTACAAGCTGGGAGGAGCCCTGAGTAACGTTGGTCTGGCTCTAGGTGAGCGGTTCCGAGGAGGAGCTTGGGTTTCTAGGGGCTGGGCCTTTAAAGACTGGTAATTAGGACCCAGCGTGAGGTTTCCATTGGCCGGCTGGGATTCTGGGAGAAGAGACCTATATTCTAACGACTGGGGCAGAGCCCTGGGTTCTGAGCTGGAGAAAATCGTGGGTTTGATACAGACTGTACTCGGGACCGGGAACCTAGGGTTTGGGTAGAGGTGAGGCCTGTCCCCTTTGGGCTGGGGGCAGAACATGGGCTCAGAGTTGGGGGACTAAGGGCGGAGCCTGGGTCCCCACAAGCGGTCCGAAGTCCCCAGTAGTTCAGAGGCCTTTGCGCTGCCGCTTGAGGAAAGACAGAGTGTAGTCACTAGGGGTGGACACTTTCTGCTTCTTCATCTGCACTTGCGACTGTGCCGTGAGTTGCAGCTTGATGGCGCTCGAGTTGATCTTGGTGGCCACCAGCAGCTCCTTCATGCCCTTCATCTTCTCACTCTGGAAAGTGAGCACTGGACCCTCCGGCGGTGGTGATGCTGTGGGTGCTGGCACCTGAGCCGTGCTGCCACCTTCAGGGCCTCGGGCTGTGCCAGCGACAGTCCCAGGAGGCTTCCGGGGGGGTCCTGACACTGCACCCTGGCCGGTGCCCAGGCCCTTGTCCAGTGCTGGCTTCTTGGGCGGCGGGGGCTCCTCTGGCTTGGACTCCCGCCGTGGGCCCCGCCGCCGGCCTTCCCGGGCTTCCTCGCCCCACGGCTCCTCGGCCTCGGCCGCCTCGGCCTCTCGGCTCACTATGCGCACCTTCTGCCGCACCTGGGCCAGTGGGGAGAGCAAGGTGAGAGCAAGGTTGCCGGCCAGTGGCTGGAACTCCAGGACCCTGCTCTGGCCATCCCATCCCACCCAGGGGGTCTCAGTCCCATCGGCACCCAAGGGGATGGGCAGATGCTGCCCCTGGGCCAGAAAAGTCTGACAAGCCCGTGGCTGCTGTCACCACCTGTAGTGCCCAGACCTCTGTGCAGCTGTCCCTCACCTGTCCCTCAAAACGGCCTAGGGACTGCACAAGAAAGGTGGCCCAGCCCACATGCAGCACAGGCGTGGGACTGCCCTCCTCCCATTTGCAGATGCCGTCGTAGAATCGCAGCAGGTGGGCGAAGCACTCAGGGTCCTGGAGGGCGGAACCTTGGCTCTGGGTGCCCTGGACGAGGGGGAAGGGAGGGCACAGATCAGTCTCTTACTCACCCCTTAGCAGAGGGCACAGGCCAGGCCCCCCACCTAGGCAAAGACCCCTGGCTCCAGAAAAGGTAAGCATAGGTTGGGAACATTCTTAGAACCTCTTTCCTTTTATAAAGCCAATCCATAGCCAGGACGTACCATCCCTACCTCCACCCCTCAGCTGAGGGAGGGAGTCTGGCCATGAAACTGAAGGCACAGGGTAGAAACCTCTAAAATACCTTCAGTCCCGTCCAACGTGGGCCCAGGACCTCAGTTATAGCAAAAGGGAACATAGCTGTCTGCTCAGGGCCACCTTCCTCCTGCCATCCCTAATCCCGTACATGCAGCCCCCATGGCCTGTGGAAGGGAGCCCTGTCCAGGTGGGAGGCTGGACACAGGCTGGAGCTCCAGCCTTTCACCTGGCTTTGCTCCCCCGGCCGCTCCTCGCCCGCCTCCAGCAAGCTGGCTGCCTCCTTCAGCAGGTTGGGGATGACATCATTGGCTACTTCAAAGAACTCCTTGTAGATCTCCTCGTCTTCCCGGCAGTAGTTGTAGCTGTGAGAGCAGTGGGGTCTCTGTAGGGTCTGAAGGGGTCTCACCATCGGGGGTAGCCCCAGGGACCTGGCGGGGGATGGAGCCCCCAGGGGCTGGGGGAGTAGGTGGGGTCCTCACTGCAAAATGATGCTGTCTGGGTCAGCCCAGAGGAAGAAAGCAAGAATGAGGAGGGGGGCATGGGGCCGAGGGTGGAAGTCCCACTGCTGGATGATGGTGGTTAAACATTGGAGATTTGAGACTGTTCTGAGAAAAAAAAAATTAGGAGGAGAGGGGAGGGAGGGAAAGATGTGACACCTTAATCAGGGTCCCTACCTCCTGGGTAATGGTGGCCTTGCTGCCTAGGGACTGGATGGAAAGGGGATGGGGCGTGGGAGCCAGGCCTCAGTCCTGGACGAGGGTGGTTGGAAACTGATGGAGGGGAAGAAAGGACAGGCTGCAGGCCCTAGTAGGGGGATCCTCACTCCTGGATGACAGTGGCCGTGTCCGCCCAGGCCTGCAGGGCTTCCCGCACATTGCGGTTGCGACAGTGGTAGCCAGCCAGGTACATGTAGGGGTAGATGTGTTCATCCCGATAGTAGGTCTTGGCTGAGGCAATGCCCTGGATGGAGGTGAGGCAGAGGATCCTCAGGGAGGCAGCCCCAGCTGCCCTGCTGGCACAAATGCCCCACCAGGGCACACCCAGAAGGGGCCACAGGAAGATCCCAGGGAGTCCTCTCCATCTCCACTCCCACCTCCACTCGCTGCCAGCCCTTCTACCTGGTCTCCTCCCTGGGTCTACAGGACTGCTGGCTGAGGCCTGGGGCAGACTGCAGGGGTGGGGCCTGCCCTCCGAGCTCAGGGCCCTTCTCTTTCTCAGACACTCTTCTACACATCACCAAAGACTTTCAAGCCCAGCCCAATGGCCCTCCTCCCCACCTACACCCACCAAGTGAACACCCCCTCTTCATCAGTGCTCCTGCCACATTTGACCTCTGTTATACTCCAGGAAGGACAGTAAGCAGTGGCAGAAAAGGCAGGGCTGAGGGGACAAATGCAGCCCCTGCCACTCCCAGGCTGGGGAACCCTGGACACCCCTCAGACAGCCCTGACTGAACTGATTCTGCACACAGTTGACACAAAGTGAGACTGGATGGGCGATACCCCCCAACACACAAAGTTCTCTTCTCATCTGCCCAGATGAGGGCCCCTGCCTCAGCCACTGTTAGGGTCTCCCTTCTGCACCCTCCTTAGATGCCCCCACCTTGTGGTAGAGGGTGAGTGGGTCTGGCCGGCCAGGGGTGGGCTCCAGCTCCTCTAGATCTGCCAGGTTCCCTAAGGCCATGGGGTACCTAGGAAAGGATCATAATTCAGGCTGCCACCCAGCCCCCCGGCCTCACCAGGCGCAGCCTGGCCACTTCCCTCTACTGACCTTTCCAGATGTCCCAGGTCATAGAGCAGCCAGAGCAGCTTCTAGGAGCCGAAGGAGAGAGTTATGAGCCACGGAACAGGGAGGAGAACGGGTCCTTAGCCTATCGGGCAGAGGTGGGGGTCAGAACCAACAGGGACCACCCACCATGTGGAAGGGCCAAAATTCTGGGACCAGCCCTTTAATGGAGTCAAAGCAATTTCACATCTCAATTCTACTCTCCCAAGAGCCCTGGGAAAGGCCAGGCCAGGAATTACTAACCCATTTTTCCAGGAGGGGAAGCTGAAGCTCAGGAAGGGAAAGTGCCCCTGCCCAGGGTCCCACAGCAAGTCAAGTCTGGCCTAGCCCAGTCCTGCCCCATTGGCTCAGCCCTCACCTGCTGCAGCTGCAGAAGCTCCAGCGAGTCGGTGTGCAGGTCAATGGAAGGGTTGATGGCACACACCATGAACGCCACCTCCATCTTGCGGTCACAGCGCATGTATGATCCTTTCAGGTACAGCCAGCTCTTAGGGGGGGATGAGATCATTATGTCTCATGATGGCCCACCCTGTGCCTGCTTCAGGGAATGACAGCCAGGAAAA | AGGTTCCCAGAGGGTCGGAAGGGAGGTCCTGCTCTGATCCGGGGCCAGTTTCGTCAGGAAGAGGGCGGGGCTCAGGATGCTCATAGGCTGGGGGCGGAGTTTTGTGTCCCAGACTCGGGATACGAAGGAGAGGAAACTAGGATTTCCAAATTCTGGAGCAGGACTGAAGTTATTTGGGGCAGGGAGCTTGGATTCGCAAGATATGGAATTCTGAAGTGCGGAAATATACTCCTAGGGGCTGAGTGGTCCTAGGCTCCCGGGCTGGAGGTGGGACCTGTGCTCCTTGGGTTAAGGGTGAAACCTCAGCTCCTACAAGCTGGGAGGAGCCCTGAGTAACGTTGGTCTGGCTCTAGGTGAGCGGTTCCGAGGAGGAGCTTGGGTTTCTAGGGGCTGGGCCTTTAAAGACTGGTAATTAGGACCCAGCGTGAGGTTTCCATTGGCCGGCTGGGATTCTGGGAGAAGAGACCTATATTCTAACGACTGGGGCAGAGCCCTGGGTTCTGAGCTGGAGAAAATCGTGGGTTTGATACAGACTGTACTCGGGACCGGGAACCTAGGGTTTGGGTAGAGGTGAGGCCTGTCCCCTTTGGGCTGGGGGCAGAACATGGGCTCAGAGTTGGGGGACTAAGGGCGGAGCCTGGGTCCCCACAAGCGGTCCGAAGTCCCCAGTAGTTCAGAGGCCTTTGCGCTGCCGCTTGAGGAAAGACAGAGTGTAGTCACTAGGGGTGGACACTTTCTGCTTCTTCATCTGCACTTGCGACTGTGCCGTGAGTTGCAGCTTGATGGCGCTCGAGTTGATCTTGGTGGCCACCAGCAGCTCCTTCATGCCCTTCATCTTCTCACTCTGGAAAGTGAGCACTGGACCCTCCGGCGGTGGTGATGCTGTGGGTGCTGGCACCTGAGCCGTGCTGCCACCTTCAGGGCCTCGGGCTGTGCCAGCGACAGTCCCAGGAGGCTTCCGGGGGGGTCCTGACACTGCACCCTGGCCGGTGCCCAGGCCCTTGTCCAGTGCTGGCTTCTTGGGCGGCGGGGGCTCCTCTGGCTTGGACTCCCGCCGTGGGCCCCGCCGCCGGCCTTCCCGGGCTTCCTCGCCCCACGGCTCCTCGGCCTCGGCCGCCTCGGCCTCTCGGCTCACTATGCGCACCTTCTGCCGCACCTGGGCCAGTGGGGAGAGCAAGGTGAGAGCAAGGTTGCCGGCCAGTGGCTGGAACTCCAGGACCCTGCTCTGGCCATCCCATCCCACCCAGGGGGTCTCAGTCCCATCGGCACCCAAGGGGATGGGCAGATGCTGCCCCTGGGCCAGAAAAGTCTGACAAGCCCGTGGCTGCTGTCACCACCTGTAGTGCCCAGACCTCTGTGCAGCTGTCCCTCACCTGTCCCTCAAAACGGCCTAGGGACTGCACAAGAAAGGTGGCCCAGCCCACATGCAGCACAGGCGTGGGACTGCCCTCCTCCCATTTGCAGATGCCGTCGTAGAATCGCAGCAGGTGGGCGAAGCACTCAGGGTCCTGGAGGGCGGAACCTTGGCTCTGGGTGCCCTGGACGAGGGGGAAGGGAGGGCACAGATCAGTCTCTTACTCACCCCTTAGCAGAGGGCACAGGCCAGGCCCCCCACCTAGGCAAAGACCCCTGGCTCCAGAAAAGGTAAGCATAGGTTGGGAACATTCTTAGAACCTCTTTCCTTTTATAAAGCCAATCCATAGCCAGGACGTACCATCCCTACCTCCACCCCTCAGCTGAGGGAGGGAGTCTGGCCATGAAACTGAAGGCACAGGGTAGAAACCTCTAAAATACCTTCAGTCCCGTCCAACGTGGGCCCAGGACCTCAGTTATAGCAAAAGGGAACATAGCTGTCTGCTCAGGGCCACCTTCCTCCTGCCATCCCTAATCCCGTACATGCAGCCCCCATGGCCTGTGGAAGGGAGCCCTGTCCAGGTGGGAGGCTGGACACAGGCTGGAGCTCCAGCCTTTCACCTGGCTTTGCTCCCCCGGCCGCTCCTCGCCCGCCTCCAGCAAGCTGGCTGCCTCCTTCAGCAGGTTGGGGATGACTCATTGGCTACTTCAAAGAACTCCTTGTAGATCTCCTCGTCTTCCCGGCAGTAGTTGTAGCTGTGAGAGCAGTGGGGTCTCTGTAGGGTCTGAAGGGGTCTCACCATCGGGGGTAGCCCCAGGGACCTGGCGGGGGATGGAGCCCCCAGGGGCTGGGGGAGTAGGTGGGGTCCTCACTGCAAAATGATGCTGTCTGGGTCAGCCCAGAGGAAGAAAGCAAGAATGAGGAGGGGGGCATGGGGCCGAGGGTGGAAGTCCCACTGCTGGATGATGGTGGTTAAACATTGGAGATTTGAGACTGTTCTGAGAAAAAAAAAATTAGGAGGAGAGGGGAGGGAGGGAAAGATGTGACACCTTAATCAGGGTCCCTACCTCCTGGGTAATGGTGGCCTTGCTGCCTAGGGACTGGATGGAAAGGGGATGGGGCGTGGGAGCCAGGCCTCAGTCCTGGACGAGGGTGGTTGGAAACTGATGGAGGGGAAGAAAGGACAGGCTGCAGGCCCTAGTAGGGGGATCCTCACTCCTGGATGACAGTGGCCGTGTCCGCCCAGGCCTGCAGGGCTTCCCGCACATTGCGGTTGCGACAGTGGTAGCCAGCCAGGTACATGTAGGGGTAGATGTGTTCATCCCGATAGTAGGTCTTGGCTGAGGCAATGCCCTGGATGGAGGTGAGGCAGAGGATCCTCAGGGAGGCAGCCCCAGCTGCCCTGCTGGCACAAATGCCCCACCAGGGCACACCCAGAAGGGGCCACAGGAAGATCCCAGGGAGTCCTCTCCATCTCCACTCCCACCTCCACTCGCTGCCAGCCCTTCTACCTGGTCTCCTCCCTGGGTCTACAGGACTGCTGGCTGAGGCCTGGGGCAGACTGCAGGGGTGGGGCCTGCCCTCCGAGCTCAGGGCCCTTCTCTTTCTCAGACACTCTTCTACACATCACCAAAGACTTTCAAGCCCAGCCCAATGGCCCTCCTCCCCACCTACACCCACCAAGTGAACACCCCCTCTTCATCAGTGCTCCTGCCACATTTGACCTCTGTTATACTCCAGGAAGGACAGTAAGCAGTGGCAGAAAAGGCAGGGCTGAGGGGACAAATGCAGCCCCTGCCACTCCCAGGCTGGGGAACCCTGGACACCCCTCAGACAGCCCTGACTGAACTGATTCTGCACACAGTTGACACAAAGTGAGACTGGATGGGCGATACCCCCCAACACACAAAGTTCTCTTCTCATCTGCCCAGATGAGGGCCCCTGCCTCAGCCACTGTTAGGGTCTCCCTTCTGCACCCTCCTTAGATGCCCCCACCTTGTGGTAGAGGGTGAGTGGGTCTGGCCGGCCAGGGGTGGGCTCCAGCTCCTCTAGATCTGCCAGGTTCCCTAAGGCCATGGGGTACCTAGGAAAGGATCATAATTCAGGCTGCCACCCAGCCCCCCGGCCTCACCAGGCGCAGCCTGGCCACTTCCCTCTACTGACCTTTCCAGATGTCCCAGGTCATAGAGCAGCCAGAGCAGCTTCTAGGAGCCGAAGGAGAGAGTTATGAGCCACGGAACAGGGAGGAGAACGGGTCCTTAGCCTATCGGGCAGAGGTGGGGGTCAGAACCAACAGGGACCACCCACCATGTGGAAGGGCCAAAATTCTGGGACCAGCCCTTTAATGGAGTCAAAGCAATTTCACATCTCAATTCTACTCTCCCAAGAGCCCTGGGAAAGGCCAGGCCAGGAATTACTAACCCATTTTTCCAGGAGGGGAAGCTGAAGCTCAGGAAGGGAAAGTGCCCCTGCCCAGGGTCCCACAGCAAGTCAAGTCTGGCCTAGCCCAGTCCTGCCCCATTGGCTCAGCCCTCACCTGCTGCAGCTGCAGAAGCTCCAGCGAGTCGGTGTGCAGGTCAATGGAAGGGTTGATGGCACACACCATGAACGCCACCTCCATCTTGCGGTCACAGCGCATGTATGATCCTTTCAGGTACAGCCAGCTCTTAGGGGGGGATGAGATCATTATGTCTCATGATGGCCCACCCTGTGCCTGCTTCAGGGAATGACAGCCAGGAAAAN | pathogenic | 177,751 |
Is the chromosome 11, position 64805720 variant in MEN1 (menin 1) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Multiple_endocrine_neoplasia,_type_1'] | GGGTCGGAAGGGAGGTCCTGCTCTGATCCGGGGCCAGTTTCGTCAGGAAGAGGGCGGGGCTCAGGATGCTCATAGGCTGGGGGCGGAGTTTTGTGTCCCAGACTCGGGATACGAAGGAGAGGAAACTAGGATTTCCAAATTCTGGAGCAGGACTGAAGTTATTTGGGGCAGGGAGCTTGGATTCGCAAGATATGGAATTCTGAAGTGCGGAAATATACTCCTAGGGGCTGAGTGGTCCTAGGCTCCCGGGCTGGAGGTGGGACCTGTGCTCCTTGGGTTAAGGGTGAAACCTCAGCTCCTACAAGCTGGGAGGAGCCCTGAGTAACGTTGGTCTGGCTCTAGGTGAGCGGTTCCGAGGAGGAGCTTGGGTTTCTAGGGGCTGGGCCTTTAAAGACTGGTAATTAGGACCCAGCGTGAGGTTTCCATTGGCCGGCTGGGATTCTGGGAGAAGAGACCTATATTCTAACGACTGGGGCAGAGCCCTGGGTTCTGAGCTGGAGAAAATCGTGGGTTTGATACAGACTGTACTCGGGACCGGGAACCTAGGGTTTGGGTAGAGGTGAGGCCTGTCCCCTTTGGGCTGGGGGCAGAACATGGGCTCAGAGTTGGGGGACTAAGGGCGGAGCCTGGGTCCCCACAAGCGGTCCGAAGTCCCCAGTAGTTCAGAGGCCTTTGCGCTGCCGCTTGAGGAAAGACAGAGTGTAGTCACTAGGGGTGGACACTTTCTGCTTCTTCATCTGCACTTGCGACTGTGCCGTGAGTTGCAGCTTGATGGCGCTCGAGTTGATCTTGGTGGCCACCAGCAGCTCCTTCATGCCCTTCATCTTCTCACTCTGGAAAGTGAGCACTGGACCCTCCGGCGGTGGTGATGCTGTGGGTGCTGGCACCTGAGCCGTGCTGCCACCTTCAGGGCCTCGGGCTGTGCCAGCGACAGTCCCAGGAGGCTTCCGGGGGGGTCCTGACACTGCACCCTGGCCGGTGCCCAGGCCCTTGTCCAGTGCTGGCTTCTTGGGCGGCGGGGGCTCCTCTGGCTTGGACTCCCGCCGTGGGCCCCGCCGCCGGCCTTCCCGGGCTTCCTCGCCCCACGGCTCCTCGGCCTCGGCCGCCTCGGCCTCTCGGCTCACTATGCGCACCTTCTGCCGCACCTGGGCCAGTGGGGAGAGCAAGGTGAGAGCAAGGTTGCCGGCCAGTGGCTGGAACTCCAGGACCCTGCTCTGGCCATCCCATCCCACCCAGGGGGTCTCAGTCCCATCGGCACCCAAGGGGATGGGCAGATGCTGCCCCTGGGCCAGAAAAGTCTGACAAGCCCGTGGCTGCTGTCACCACCTGTAGTGCCCAGACCTCTGTGCAGCTGTCCCTCACCTGTCCCTCAAAACGGCCTAGGGACTGCACAAGAAAGGTGGCCCAGCCCACATGCAGCACAGGCGTGGGACTGCCCTCCTCCCATTTGCAGATGCCGTCGTAGAATCGCAGCAGGTGGGCGAAGCACTCAGGGTCCTGGAGGGCGGAACCTTGGCTCTGGGTGCCCTGGACGAGGGGGAAGGGAGGGCACAGATCAGTCTCTTACTCACCCCTTAGCAGAGGGCACAGGCCAGGCCCCCCACCTAGGCAAAGACCCCTGGCTCCAGAAAAGGTAAGCATAGGTTGGGAACATTCTTAGAACCTCTTTCCTTTTATAAAGCCAATCCATAGCCAGGACGTACCATCCCTACCTCCACCCCTCAGCTGAGGGAGGGAGTCTGGCCATGAAACTGAAGGCACAGGGTAGAAACCTCTAAAATACCTTCAGTCCCGTCCAACGTGGGCCCAGGACCTCAGTTATAGCAAAAGGGAACATAGCTGTCTGCTCAGGGCCACCTTCCTCCTGCCATCCCTAATCCCGTACATGCAGCCCCCATGGCCTGTGGAAGGGAGCCCTGTCCAGGTGGGAGGCTGGACACAGGCTGGAGCTCCAGCCTTTCACCTGGCTTTGCTCCCCCGGCCGCTCCTCGCCCGCCTCCAGCAAGCTGGCTGCCTCCTTCAGCAGGTTGGGGATGACATCATTGGCTACTTCAAAGAACTCCTTGTAGATCTCCTCGTCTTCCCGGCAGTAGTTGTAGCTGTGAGAGCAGTGGGGTCTCTGTAGGGTCTGAAGGGGTCTCACCATCGGGGGTAGCCCCAGGGACCTGGCGGGGGATGGAGCCCCCAGGGGCTGGGGGAGTAGGTGGGGTCCTCACTGCAAAATGATGCTGTCTGGGTCAGCCCAGAGGAAGAAAGCAAGAATGAGGAGGGGGGCATGGGGCCGAGGGTGGAAGTCCCACTGCTGGATGATGGTGGTTAAACATTGGAGATTTGAGACTGTTCTGAGAAAAAAAAAATTAGGAGGAGAGGGGAGGGAGGGAAAGATGTGACACCTTAATCAGGGTCCCTACCTCCTGGGTAATGGTGGCCTTGCTGCCTAGGGACTGGATGGAAAGGGGATGGGGCGTGGGAGCCAGGCCTCAGTCCTGGACGAGGGTGGTTGGAAACTGATGGAGGGGAAGAAAGGACAGGCTGCAGGCCCTAGTAGGGGGATCCTCACTCCTGGATGACAGTGGCCGTGTCCGCCCAGGCCTGCAGGGCTTCCCGCACATTGCGGTTGCGACAGTGGTAGCCAGCCAGGTACATGTAGGGGTAGATGTGTTCATCCCGATAGTAGGTCTTGGCTGAGGCAATGCCCTGGATGGAGGTGAGGCAGAGGATCCTCAGGGAGGCAGCCCCAGCTGCCCTGCTGGCACAAATGCCCCACCAGGGCACACCCAGAAGGGGCCACAGGAAGATCCCAGGGAGTCCTCTCCATCTCCACTCCCACCTCCACTCGCTGCCAGCCCTTCTACCTGGTCTCCTCCCTGGGTCTACAGGACTGCTGGCTGAGGCCTGGGGCAGACTGCAGGGGTGGGGCCTGCCCTCCGAGCTCAGGGCCCTTCTCTTTCTCAGACACTCTTCTACACATCACCAAAGACTTTCAAGCCCAGCCCAATGGCCCTCCTCCCCACCTACACCCACCAAGTGAACACCCCCTCTTCATCAGTGCTCCTGCCACATTTGACCTCTGTTATACTCCAGGAAGGACAGTAAGCAGTGGCAGAAAAGGCAGGGCTGAGGGGACAAATGCAGCCCCTGCCACTCCCAGGCTGGGGAACCCTGGACACCCCTCAGACAGCCCTGACTGAACTGATTCTGCACACAGTTGACACAAAGTGAGACTGGATGGGCGATACCCCCCAACACACAAAGTTCTCTTCTCATCTGCCCAGATGAGGGCCCCTGCCTCAGCCACTGTTAGGGTCTCCCTTCTGCACCCTCCTTAGATGCCCCCACCTTGTGGTAGAGGGTGAGTGGGTCTGGCCGGCCAGGGGTGGGCTCCAGCTCCTCTAGATCTGCCAGGTTCCCTAAGGCCATGGGGTACCTAGGAAAGGATCATAATTCAGGCTGCCACCCAGCCCCCCGGCCTCACCAGGCGCAGCCTGGCCACTTCCCTCTACTGACCTTTCCAGATGTCCCAGGTCATAGAGCAGCCAGAGCAGCTTCTAGGAGCCGAAGGAGAGAGTTATGAGCCACGGAACAGGGAGGAGAACGGGTCCTTAGCCTATCGGGCAGAGGTGGGGGTCAGAACCAACAGGGACCACCCACCATGTGGAAGGGCCAAAATTCTGGGACCAGCCCTTTAATGGAGTCAAAGCAATTTCACATCTCAATTCTACTCTCCCAAGAGCCCTGGGAAAGGCCAGGCCAGGAATTACTAACCCATTTTTCCAGGAGGGGAAGCTGAAGCTCAGGAAGGGAAAGTGCCCCTGCCCAGGGTCCCACAGCAAGTCAAGTCTGGCCTAGCCCAGTCCTGCCCCATTGGCTCAGCCCTCACCTGCTGCAGCTGCAGAAGCTCCAGCGAGTCGGTGTGCAGGTCAATGGAAGGGTTGATGGCACACACCATGAACGCCACCTCCATCTTGCGGTCACAGCGCATGTATGATCCTTTCAGGTACAGCCAGCTCTTAGGGGGGGATGAGATCATTATGTCTCATGATGGCCCACCCTGTGCCTGCTTCAGGGAATGACAGCCAGGAAAAGGGGCTCTTCT | GGGTCGGAAGGGAGGTCCTGCTCTGATCCGGGGCCAGTTTCGTCAGGAAGAGGGCGGGGCTCAGGATGCTCATAGGCTGGGGGCGGAGTTTTGTGTCCCAGACTCGGGATACGAAGGAGAGGAAACTAGGATTTCCAAATTCTGGAGCAGGACTGAAGTTATTTGGGGCAGGGAGCTTGGATTCGCAAGATATGGAATTCTGAAGTGCGGAAATATACTCCTAGGGGCTGAGTGGTCCTAGGCTCCCGGGCTGGAGGTGGGACCTGTGCTCCTTGGGTTAAGGGTGAAACCTCAGCTCCTACAAGCTGGGAGGAGCCCTGAGTAACGTTGGTCTGGCTCTAGGTGAGCGGTTCCGAGGAGGAGCTTGGGTTTCTAGGGGCTGGGCCTTTAAAGACTGGTAATTAGGACCCAGCGTGAGGTTTCCATTGGCCGGCTGGGATTCTGGGAGAAGAGACCTATATTCTAACGACTGGGGCAGAGCCCTGGGTTCTGAGCTGGAGAAAATCGTGGGTTTGATACAGACTGTACTCGGGACCGGGAACCTAGGGTTTGGGTAGAGGTGAGGCCTGTCCCCTTTGGGCTGGGGGCAGAACATGGGCTCAGAGTTGGGGGACTAAGGGCGGAGCCTGGGTCCCCACAAGCGGTCCGAAGTCCCCAGTAGTTCAGAGGCCTTTGCGCTGCCGCTTGAGGAAAGACAGAGTGTAGTCACTAGGGGTGGACACTTTCTGCTTCTTCATCTGCACTTGCGACTGTGCCGTGAGTTGCAGCTTGATGGCGCTCGAGTTGATCTTGGTGGCCACCAGCAGCTCCTTCATGCCCTTCATCTTCTCACTCTGGAAAGTGAGCACTGGACCCTCCGGCGGTGGTGATGCTGTGGGTGCTGGCACCTGAGCCGTGCTGCCACCTTCAGGGCCTCGGGCTGTGCCAGCGACAGTCCCAGGAGGCTTCCGGGGGGGTCCTGACACTGCACCCTGGCCGGTGCCCAGGCCCTTGTCCAGTGCTGGCTTCTTGGGCGGCGGGGGCTCCTCTGGCTTGGACTCCCGCCGTGGGCCCCGCCGCCGGCCTTCCCGGGCTTCCTCGCCCCACGGCTCCTCGGCCTCGGCCGCCTCGGCCTCTCGGCTCACTATGCGCACCTTCTGCCGCACCTGGGCCAGTGGGGAGAGCAAGGTGAGAGCAAGGTTGCCGGCCAGTGGCTGGAACTCCAGGACCCTGCTCTGGCCATCCCATCCCACCCAGGGGGTCTCAGTCCCATCGGCACCCAAGGGGATGGGCAGATGCTGCCCCTGGGCCAGAAAAGTCTGACAAGCCCGTGGCTGCTGTCACCACCTGTAGTGCCCAGACCTCTGTGCAGCTGTCCCTCACCTGTCCCTCAAAACGGCCTAGGGACTGCACAAGAAAGGTGGCCCAGCCCACATGCAGCACAGGCGTGGGACTGCCCTCCTCCCATTTGCAGATGCCGTCGTAGAATCGCAGCAGGTGGGCGAAGCACTCAGGGTCCTGGAGGGCGGAACCTTGGCTCTGGGTGCCCTGGACGAGGGGGAAGGGAGGGCACAGATCAGTCTCTTACTCACCCCTTAGCAGAGGGCACAGGCCAGGCCCCCCACCTAGGCAAAGACCCCTGGCTCCAGAAAAGGTAAGCATAGGTTGGGAACATTCTTAGAACCTCTTTCCTTTTATAAAGCCAATCCATAGCCAGGACGTACCATCCCTACCTCCACCCCTCAGCTGAGGGAGGGAGTCTGGCCATGAAACTGAAGGCACAGGGTAGAAACCTCTAAAATACCTTCAGTCCCGTCCAACGTGGGCCCAGGACCTCAGTTATAGCAAAAGGGAACATAGCTGTCTGCTCAGGGCCACCTTCCTCCTGCCATCCCTAATCCCGTACATGCAGCCCCCATGGCCTGTGGAAGGGAGCCCTGTCCAGGTGGGAGGCTGGACACAGGCTGGAGCTCCAGCCTTTCACCTGGCTTTGCTCCCCCGGCCGCTCCTCGCCCGCCTCCAGCAAGCTGGCTGCCTCCTTCAGCAGGTTGGGGATGACATCATTGGCTATTCAAAGAACTCCTTGTAGATCTCCTCGTCTTCCCGGCAGTAGTTGTAGCTGTGAGAGCAGTGGGGTCTCTGTAGGGTCTGAAGGGGTCTCACCATCGGGGGTAGCCCCAGGGACCTGGCGGGGGATGGAGCCCCCAGGGGCTGGGGGAGTAGGTGGGGTCCTCACTGCAAAATGATGCTGTCTGGGTCAGCCCAGAGGAAGAAAGCAAGAATGAGGAGGGGGGCATGGGGCCGAGGGTGGAAGTCCCACTGCTGGATGATGGTGGTTAAACATTGGAGATTTGAGACTGTTCTGAGAAAAAAAAAATTAGGAGGAGAGGGGAGGGAGGGAAAGATGTGACACCTTAATCAGGGTCCCTACCTCCTGGGTAATGGTGGCCTTGCTGCCTAGGGACTGGATGGAAAGGGGATGGGGCGTGGGAGCCAGGCCTCAGTCCTGGACGAGGGTGGTTGGAAACTGATGGAGGGGAAGAAAGGACAGGCTGCAGGCCCTAGTAGGGGGATCCTCACTCCTGGATGACAGTGGCCGTGTCCGCCCAGGCCTGCAGGGCTTCCCGCACATTGCGGTTGCGACAGTGGTAGCCAGCCAGGTACATGTAGGGGTAGATGTGTTCATCCCGATAGTAGGTCTTGGCTGAGGCAATGCCCTGGATGGAGGTGAGGCAGAGGATCCTCAGGGAGGCAGCCCCAGCTGCCCTGCTGGCACAAATGCCCCACCAGGGCACACCCAGAAGGGGCCACAGGAAGATCCCAGGGAGTCCTCTCCATCTCCACTCCCACCTCCACTCGCTGCCAGCCCTTCTACCTGGTCTCCTCCCTGGGTCTACAGGACTGCTGGCTGAGGCCTGGGGCAGACTGCAGGGGTGGGGCCTGCCCTCCGAGCTCAGGGCCCTTCTCTTTCTCAGACACTCTTCTACACATCACCAAAGACTTTCAAGCCCAGCCCAATGGCCCTCCTCCCCACCTACACCCACCAAGTGAACACCCCCTCTTCATCAGTGCTCCTGCCACATTTGACCTCTGTTATACTCCAGGAAGGACAGTAAGCAGTGGCAGAAAAGGCAGGGCTGAGGGGACAAATGCAGCCCCTGCCACTCCCAGGCTGGGGAACCCTGGACACCCCTCAGACAGCCCTGACTGAACTGATTCTGCACACAGTTGACACAAAGTGAGACTGGATGGGCGATACCCCCCAACACACAAAGTTCTCTTCTCATCTGCCCAGATGAGGGCCCCTGCCTCAGCCACTGTTAGGGTCTCCCTTCTGCACCCTCCTTAGATGCCCCCACCTTGTGGTAGAGGGTGAGTGGGTCTGGCCGGCCAGGGGTGGGCTCCAGCTCCTCTAGATCTGCCAGGTTCCCTAAGGCCATGGGGTACCTAGGAAAGGATCATAATTCAGGCTGCCACCCAGCCCCCCGGCCTCACCAGGCGCAGCCTGGCCACTTCCCTCTACTGACCTTTCCAGATGTCCCAGGTCATAGAGCAGCCAGAGCAGCTTCTAGGAGCCGAAGGAGAGAGTTATGAGCCACGGAACAGGGAGGAGAACGGGTCCTTAGCCTATCGGGCAGAGGTGGGGGTCAGAACCAACAGGGACCACCCACCATGTGGAAGGGCCAAAATTCTGGGACCAGCCCTTTAATGGAGTCAAAGCAATTTCACATCTCAATTCTACTCTCCCAAGAGCCCTGGGAAAGGCCAGGCCAGGAATTACTAACCCATTTTTCCAGGAGGGGAAGCTGAAGCTCAGGAAGGGAAAGTGCCCCTGCCCAGGGTCCCACAGCAAGTCAAGTCTGGCCTAGCCCAGTCCTGCCCCATTGGCTCAGCCCTCACCTGCTGCAGCTGCAGAAGCTCCAGCGAGTCGGTGTGCAGGTCAATGGAAGGGTTGATGGCACACACCATGAACGCCACCTCCATCTTGCGGTCACAGCGCATGTATGATCCTTTCAGGTACAGCCAGCTCTTAGGGGGGGATGAGATCATTATGTCTCATGATGGCCCACCCTGTGCCTGCTTCAGGGAATGACAGCCAGGAAAAGGGGCTCTTCTN | pathogenic | 177,752 |
Gene MEN1 (menin 1) variant at chromosome 11, position 64805730—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Multiple_endocrine_neoplasia,_type_1'] | GGAGGTCCTGCTCTGATCCGGGGCCAGTTTCGTCAGGAAGAGGGCGGGGCTCAGGATGCTCATAGGCTGGGGGCGGAGTTTTGTGTCCCAGACTCGGGATACGAAGGAGAGGAAACTAGGATTTCCAAATTCTGGAGCAGGACTGAAGTTATTTGGGGCAGGGAGCTTGGATTCGCAAGATATGGAATTCTGAAGTGCGGAAATATACTCCTAGGGGCTGAGTGGTCCTAGGCTCCCGGGCTGGAGGTGGGACCTGTGCTCCTTGGGTTAAGGGTGAAACCTCAGCTCCTACAAGCTGGGAGGAGCCCTGAGTAACGTTGGTCTGGCTCTAGGTGAGCGGTTCCGAGGAGGAGCTTGGGTTTCTAGGGGCTGGGCCTTTAAAGACTGGTAATTAGGACCCAGCGTGAGGTTTCCATTGGCCGGCTGGGATTCTGGGAGAAGAGACCTATATTCTAACGACTGGGGCAGAGCCCTGGGTTCTGAGCTGGAGAAAATCGTGGGTTTGATACAGACTGTACTCGGGACCGGGAACCTAGGGTTTGGGTAGAGGTGAGGCCTGTCCCCTTTGGGCTGGGGGCAGAACATGGGCTCAGAGTTGGGGGACTAAGGGCGGAGCCTGGGTCCCCACAAGCGGTCCGAAGTCCCCAGTAGTTCAGAGGCCTTTGCGCTGCCGCTTGAGGAAAGACAGAGTGTAGTCACTAGGGGTGGACACTTTCTGCTTCTTCATCTGCACTTGCGACTGTGCCGTGAGTTGCAGCTTGATGGCGCTCGAGTTGATCTTGGTGGCCACCAGCAGCTCCTTCATGCCCTTCATCTTCTCACTCTGGAAAGTGAGCACTGGACCCTCCGGCGGTGGTGATGCTGTGGGTGCTGGCACCTGAGCCGTGCTGCCACCTTCAGGGCCTCGGGCTGTGCCAGCGACAGTCCCAGGAGGCTTCCGGGGGGGTCCTGACACTGCACCCTGGCCGGTGCCCAGGCCCTTGTCCAGTGCTGGCTTCTTGGGCGGCGGGGGCTCCTCTGGCTTGGACTCCCGCCGTGGGCCCCGCCGCCGGCCTTCCCGGGCTTCCTCGCCCCACGGCTCCTCGGCCTCGGCCGCCTCGGCCTCTCGGCTCACTATGCGCACCTTCTGCCGCACCTGGGCCAGTGGGGAGAGCAAGGTGAGAGCAAGGTTGCCGGCCAGTGGCTGGAACTCCAGGACCCTGCTCTGGCCATCCCATCCCACCCAGGGGGTCTCAGTCCCATCGGCACCCAAGGGGATGGGCAGATGCTGCCCCTGGGCCAGAAAAGTCTGACAAGCCCGTGGCTGCTGTCACCACCTGTAGTGCCCAGACCTCTGTGCAGCTGTCCCTCACCTGTCCCTCAAAACGGCCTAGGGACTGCACAAGAAAGGTGGCCCAGCCCACATGCAGCACAGGCGTGGGACTGCCCTCCTCCCATTTGCAGATGCCGTCGTAGAATCGCAGCAGGTGGGCGAAGCACTCAGGGTCCTGGAGGGCGGAACCTTGGCTCTGGGTGCCCTGGACGAGGGGGAAGGGAGGGCACAGATCAGTCTCTTACTCACCCCTTAGCAGAGGGCACAGGCCAGGCCCCCCACCTAGGCAAAGACCCCTGGCTCCAGAAAAGGTAAGCATAGGTTGGGAACATTCTTAGAACCTCTTTCCTTTTATAAAGCCAATCCATAGCCAGGACGTACCATCCCTACCTCCACCCCTCAGCTGAGGGAGGGAGTCTGGCCATGAAACTGAAGGCACAGGGTAGAAACCTCTAAAATACCTTCAGTCCCGTCCAACGTGGGCCCAGGACCTCAGTTATAGCAAAAGGGAACATAGCTGTCTGCTCAGGGCCACCTTCCTCCTGCCATCCCTAATCCCGTACATGCAGCCCCCATGGCCTGTGGAAGGGAGCCCTGTCCAGGTGGGAGGCTGGACACAGGCTGGAGCTCCAGCCTTTCACCTGGCTTTGCTCCCCCGGCCGCTCCTCGCCCGCCTCCAGCAAGCTGGCTGCCTCCTTCAGCAGGTTGGGGATGACATCATTGGCTACTTCAAAGAACTCCTTGTAGATCTCCTCGTCTTCCCGGCAGTAGTTGTAGCTGTGAGAGCAGTGGGGTCTCTGTAGGGTCTGAAGGGGTCTCACCATCGGGGGTAGCCCCAGGGACCTGGCGGGGGATGGAGCCCCCAGGGGCTGGGGGAGTAGGTGGGGTCCTCACTGCAAAATGATGCTGTCTGGGTCAGCCCAGAGGAAGAAAGCAAGAATGAGGAGGGGGGCATGGGGCCGAGGGTGGAAGTCCCACTGCTGGATGATGGTGGTTAAACATTGGAGATTTGAGACTGTTCTGAGAAAAAAAAAATTAGGAGGAGAGGGGAGGGAGGGAAAGATGTGACACCTTAATCAGGGTCCCTACCTCCTGGGTAATGGTGGCCTTGCTGCCTAGGGACTGGATGGAAAGGGGATGGGGCGTGGGAGCCAGGCCTCAGTCCTGGACGAGGGTGGTTGGAAACTGATGGAGGGGAAGAAAGGACAGGCTGCAGGCCCTAGTAGGGGGATCCTCACTCCTGGATGACAGTGGCCGTGTCCGCCCAGGCCTGCAGGGCTTCCCGCACATTGCGGTTGCGACAGTGGTAGCCAGCCAGGTACATGTAGGGGTAGATGTGTTCATCCCGATAGTAGGTCTTGGCTGAGGCAATGCCCTGGATGGAGGTGAGGCAGAGGATCCTCAGGGAGGCAGCCCCAGCTGCCCTGCTGGCACAAATGCCCCACCAGGGCACACCCAGAAGGGGCCACAGGAAGATCCCAGGGAGTCCTCTCCATCTCCACTCCCACCTCCACTCGCTGCCAGCCCTTCTACCTGGTCTCCTCCCTGGGTCTACAGGACTGCTGGCTGAGGCCTGGGGCAGACTGCAGGGGTGGGGCCTGCCCTCCGAGCTCAGGGCCCTTCTCTTTCTCAGACACTCTTCTACACATCACCAAAGACTTTCAAGCCCAGCCCAATGGCCCTCCTCCCCACCTACACCCACCAAGTGAACACCCCCTCTTCATCAGTGCTCCTGCCACATTTGACCTCTGTTATACTCCAGGAAGGACAGTAAGCAGTGGCAGAAAAGGCAGGGCTGAGGGGACAAATGCAGCCCCTGCCACTCCCAGGCTGGGGAACCCTGGACACCCCTCAGACAGCCCTGACTGAACTGATTCTGCACACAGTTGACACAAAGTGAGACTGGATGGGCGATACCCCCCAACACACAAAGTTCTCTTCTCATCTGCCCAGATGAGGGCCCCTGCCTCAGCCACTGTTAGGGTCTCCCTTCTGCACCCTCCTTAGATGCCCCCACCTTGTGGTAGAGGGTGAGTGGGTCTGGCCGGCCAGGGGTGGGCTCCAGCTCCTCTAGATCTGCCAGGTTCCCTAAGGCCATGGGGTACCTAGGAAAGGATCATAATTCAGGCTGCCACCCAGCCCCCCGGCCTCACCAGGCGCAGCCTGGCCACTTCCCTCTACTGACCTTTCCAGATGTCCCAGGTCATAGAGCAGCCAGAGCAGCTTCTAGGAGCCGAAGGAGAGAGTTATGAGCCACGGAACAGGGAGGAGAACGGGTCCTTAGCCTATCGGGCAGAGGTGGGGGTCAGAACCAACAGGGACCACCCACCATGTGGAAGGGCCAAAATTCTGGGACCAGCCCTTTAATGGAGTCAAAGCAATTTCACATCTCAATTCTACTCTCCCAAGAGCCCTGGGAAAGGCCAGGCCAGGAATTACTAACCCATTTTTCCAGGAGGGGAAGCTGAAGCTCAGGAAGGGAAAGTGCCCCTGCCCAGGGTCCCACAGCAAGTCAAGTCTGGCCTAGCCCAGTCCTGCCCCATTGGCTCAGCCCTCACCTGCTGCAGCTGCAGAAGCTCCAGCGAGTCGGTGTGCAGGTCAATGGAAGGGTTGATGGCACACACCATGAACGCCACCTCCATCTTGCGGTCACAGCGCATGTATGATCCTTTCAGGTACAGCCAGCTCTTAGGGGGGGATGAGATCATTATGTCTCATGATGGCCCACCCTGTGCCTGCTTCAGGGAATGACAGCCAGGAAAAGGGGCTCTTCTGTCTTCCCTT | GGAGGTCCTGCTCTGATCCGGGGCCAGTTTCGTCAGGAAGAGGGCGGGGCTCAGGATGCTCATAGGCTGGGGGCGGAGTTTTGTGTCCCAGACTCGGGATACGAAGGAGAGGAAACTAGGATTTCCAAATTCTGGAGCAGGACTGAAGTTATTTGGGGCAGGGAGCTTGGATTCGCAAGATATGGAATTCTGAAGTGCGGAAATATACTCCTAGGGGCTGAGTGGTCCTAGGCTCCCGGGCTGGAGGTGGGACCTGTGCTCCTTGGGTTAAGGGTGAAACCTCAGCTCCTACAAGCTGGGAGGAGCCCTGAGTAACGTTGGTCTGGCTCTAGGTGAGCGGTTCCGAGGAGGAGCTTGGGTTTCTAGGGGCTGGGCCTTTAAAGACTGGTAATTAGGACCCAGCGTGAGGTTTCCATTGGCCGGCTGGGATTCTGGGAGAAGAGACCTATATTCTAACGACTGGGGCAGAGCCCTGGGTTCTGAGCTGGAGAAAATCGTGGGTTTGATACAGACTGTACTCGGGACCGGGAACCTAGGGTTTGGGTAGAGGTGAGGCCTGTCCCCTTTGGGCTGGGGGCAGAACATGGGCTCAGAGTTGGGGGACTAAGGGCGGAGCCTGGGTCCCCACAAGCGGTCCGAAGTCCCCAGTAGTTCAGAGGCCTTTGCGCTGCCGCTTGAGGAAAGACAGAGTGTAGTCACTAGGGGTGGACACTTTCTGCTTCTTCATCTGCACTTGCGACTGTGCCGTGAGTTGCAGCTTGATGGCGCTCGAGTTGATCTTGGTGGCCACCAGCAGCTCCTTCATGCCCTTCATCTTCTCACTCTGGAAAGTGAGCACTGGACCCTCCGGCGGTGGTGATGCTGTGGGTGCTGGCACCTGAGCCGTGCTGCCACCTTCAGGGCCTCGGGCTGTGCCAGCGACAGTCCCAGGAGGCTTCCGGGGGGGTCCTGACACTGCACCCTGGCCGGTGCCCAGGCCCTTGTCCAGTGCTGGCTTCTTGGGCGGCGGGGGCTCCTCTGGCTTGGACTCCCGCCGTGGGCCCCGCCGCCGGCCTTCCCGGGCTTCCTCGCCCCACGGCTCCTCGGCCTCGGCCGCCTCGGCCTCTCGGCTCACTATGCGCACCTTCTGCCGCACCTGGGCCAGTGGGGAGAGCAAGGTGAGAGCAAGGTTGCCGGCCAGTGGCTGGAACTCCAGGACCCTGCTCTGGCCATCCCATCCCACCCAGGGGGTCTCAGTCCCATCGGCACCCAAGGGGATGGGCAGATGCTGCCCCTGGGCCAGAAAAGTCTGACAAGCCCGTGGCTGCTGTCACCACCTGTAGTGCCCAGACCTCTGTGCAGCTGTCCCTCACCTGTCCCTCAAAACGGCCTAGGGACTGCACAAGAAAGGTGGCCCAGCCCACATGCAGCACAGGCGTGGGACTGCCCTCCTCCCATTTGCAGATGCCGTCGTAGAATCGCAGCAGGTGGGCGAAGCACTCAGGGTCCTGGAGGGCGGAACCTTGGCTCTGGGTGCCCTGGACGAGGGGGAAGGGAGGGCACAGATCAGTCTCTTACTCACCCCTTAGCAGAGGGCACAGGCCAGGCCCCCCACCTAGGCAAAGACCCCTGGCTCCAGAAAAGGTAAGCATAGGTTGGGAACATTCTTAGAACCTCTTTCCTTTTATAAAGCCAATCCATAGCCAGGACGTACCATCCCTACCTCCACCCCTCAGCTGAGGGAGGGAGTCTGGCCATGAAACTGAAGGCACAGGGTAGAAACCTCTAAAATACCTTCAGTCCCGTCCAACGTGGGCCCAGGACCTCAGTTATAGCAAAAGGGAACATAGCTGTCTGCTCAGGGCCACCTTCCTCCTGCCATCCCTAATCCCGTACATGCAGCCCCCATGGCCTGTGGAAGGGAGCCCTGTCCAGGTGGGAGGCTGGACACAGGCTGGAGCTCCAGCCTTTCACCTGGCTTTGCTCCCCCGGCCGCTCCTCGCCCGCCTCCAGCAAGCTGGCTGCCTCCTTCAGCAGGTTGGGGATGACATCATTGGCTACTTCAAAGAACTTGTAGATCTCCTCGTCTTCCCGGCAGTAGTTGTAGCTGTGAGAGCAGTGGGGTCTCTGTAGGGTCTGAAGGGGTCTCACCATCGGGGGTAGCCCCAGGGACCTGGCGGGGGATGGAGCCCCCAGGGGCTGGGGGAGTAGGTGGGGTCCTCACTGCAAAATGATGCTGTCTGGGTCAGCCCAGAGGAAGAAAGCAAGAATGAGGAGGGGGGCATGGGGCCGAGGGTGGAAGTCCCACTGCTGGATGATGGTGGTTAAACATTGGAGATTTGAGACTGTTCTGAGAAAAAAAAAATTAGGAGGAGAGGGGAGGGAGGGAAAGATGTGACACCTTAATCAGGGTCCCTACCTCCTGGGTAATGGTGGCCTTGCTGCCTAGGGACTGGATGGAAAGGGGATGGGGCGTGGGAGCCAGGCCTCAGTCCTGGACGAGGGTGGTTGGAAACTGATGGAGGGGAAGAAAGGACAGGCTGCAGGCCCTAGTAGGGGGATCCTCACTCCTGGATGACAGTGGCCGTGTCCGCCCAGGCCTGCAGGGCTTCCCGCACATTGCGGTTGCGACAGTGGTAGCCAGCCAGGTACATGTAGGGGTAGATGTGTTCATCCCGATAGTAGGTCTTGGCTGAGGCAATGCCCTGGATGGAGGTGAGGCAGAGGATCCTCAGGGAGGCAGCCCCAGCTGCCCTGCTGGCACAAATGCCCCACCAGGGCACACCCAGAAGGGGCCACAGGAAGATCCCAGGGAGTCCTCTCCATCTCCACTCCCACCTCCACTCGCTGCCAGCCCTTCTACCTGGTCTCCTCCCTGGGTCTACAGGACTGCTGGCTGAGGCCTGGGGCAGACTGCAGGGGTGGGGCCTGCCCTCCGAGCTCAGGGCCCTTCTCTTTCTCAGACACTCTTCTACACATCACCAAAGACTTTCAAGCCCAGCCCAATGGCCCTCCTCCCCACCTACACCCACCAAGTGAACACCCCCTCTTCATCAGTGCTCCTGCCACATTTGACCTCTGTTATACTCCAGGAAGGACAGTAAGCAGTGGCAGAAAAGGCAGGGCTGAGGGGACAAATGCAGCCCCTGCCACTCCCAGGCTGGGGAACCCTGGACACCCCTCAGACAGCCCTGACTGAACTGATTCTGCACACAGTTGACACAAAGTGAGACTGGATGGGCGATACCCCCCAACACACAAAGTTCTCTTCTCATCTGCCCAGATGAGGGCCCCTGCCTCAGCCACTGTTAGGGTCTCCCTTCTGCACCCTCCTTAGATGCCCCCACCTTGTGGTAGAGGGTGAGTGGGTCTGGCCGGCCAGGGGTGGGCTCCAGCTCCTCTAGATCTGCCAGGTTCCCTAAGGCCATGGGGTACCTAGGAAAGGATCATAATTCAGGCTGCCACCCAGCCCCCCGGCCTCACCAGGCGCAGCCTGGCCACTTCCCTCTACTGACCTTTCCAGATGTCCCAGGTCATAGAGCAGCCAGAGCAGCTTCTAGGAGCCGAAGGAGAGAGTTATGAGCCACGGAACAGGGAGGAGAACGGGTCCTTAGCCTATCGGGCAGAGGTGGGGGTCAGAACCAACAGGGACCACCCACCATGTGGAAGGGCCAAAATTCTGGGACCAGCCCTTTAATGGAGTCAAAGCAATTTCACATCTCAATTCTACTCTCCCAAGAGCCCTGGGAAAGGCCAGGCCAGGAATTACTAACCCATTTTTCCAGGAGGGGAAGCTGAAGCTCAGGAAGGGAAAGTGCCCCTGCCCAGGGTCCCACAGCAAGTCAAGTCTGGCCTAGCCCAGTCCTGCCCCATTGGCTCAGCCCTCACCTGCTGCAGCTGCAGAAGCTCCAGCGAGTCGGTGTGCAGGTCAATGGAAGGGTTGATGGCACACACCATGAACGCCACCTCCATCTTGCGGTCACAGCGCATGTATGATCCTTTCAGGTACAGCCAGCTCTTAGGGGGGGATGAGATCATTATGTCTCATGATGGCCCACCCTGTGCCTGCTTCAGGGAATGACAGCCAGGAAAAGGGGCTCTTCTGTCTTCCCTTNNN | pathogenic | 177,755 |
Variant chromosome 11, position 64806267, gene MEN1 (menin 1): benign or pathogenic? Disease(s)? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Multiple_endocrine_neoplasia,_type_1'] | GTTTGGGTAGAGGTGAGGCCTGTCCCCTTTGGGCTGGGGGCAGAACATGGGCTCAGAGTTGGGGGACTAAGGGCGGAGCCTGGGTCCCCACAAGCGGTCCGAAGTCCCCAGTAGTTCAGAGGCCTTTGCGCTGCCGCTTGAGGAAAGACAGAGTGTAGTCACTAGGGGTGGACACTTTCTGCTTCTTCATCTGCACTTGCGACTGTGCCGTGAGTTGCAGCTTGATGGCGCTCGAGTTGATCTTGGTGGCCACCAGCAGCTCCTTCATGCCCTTCATCTTCTCACTCTGGAAAGTGAGCACTGGACCCTCCGGCGGTGGTGATGCTGTGGGTGCTGGCACCTGAGCCGTGCTGCCACCTTCAGGGCCTCGGGCTGTGCCAGCGACAGTCCCAGGAGGCTTCCGGGGGGGTCCTGACACTGCACCCTGGCCGGTGCCCAGGCCCTTGTCCAGTGCTGGCTTCTTGGGCGGCGGGGGCTCCTCTGGCTTGGACTCCCGCCGTGGGCCCCGCCGCCGGCCTTCCCGGGCTTCCTCGCCCCACGGCTCCTCGGCCTCGGCCGCCTCGGCCTCTCGGCTCACTATGCGCACCTTCTGCCGCACCTGGGCCAGTGGGGAGAGCAAGGTGAGAGCAAGGTTGCCGGCCAGTGGCTGGAACTCCAGGACCCTGCTCTGGCCATCCCATCCCACCCAGGGGGTCTCAGTCCCATCGGCACCCAAGGGGATGGGCAGATGCTGCCCCTGGGCCAGAAAAGTCTGACAAGCCCGTGGCTGCTGTCACCACCTGTAGTGCCCAGACCTCTGTGCAGCTGTCCCTCACCTGTCCCTCAAAACGGCCTAGGGACTGCACAAGAAAGGTGGCCCAGCCCACATGCAGCACAGGCGTGGGACTGCCCTCCTCCCATTTGCAGATGCCGTCGTAGAATCGCAGCAGGTGGGCGAAGCACTCAGGGTCCTGGAGGGCGGAACCTTGGCTCTGGGTGCCCTGGACGAGGGGGAAGGGAGGGCACAGATCAGTCTCTTACTCACCCCTTAGCAGAGGGCACAGGCCAGGCCCCCCACCTAGGCAAAGACCCCTGGCTCCAGAAAAGGTAAGCATAGGTTGGGAACATTCTTAGAACCTCTTTCCTTTTATAAAGCCAATCCATAGCCAGGACGTACCATCCCTACCTCCACCCCTCAGCTGAGGGAGGGAGTCTGGCCATGAAACTGAAGGCACAGGGTAGAAACCTCTAAAATACCTTCAGTCCCGTCCAACGTGGGCCCAGGACCTCAGTTATAGCAAAAGGGAACATAGCTGTCTGCTCAGGGCCACCTTCCTCCTGCCATCCCTAATCCCGTACATGCAGCCCCCATGGCCTGTGGAAGGGAGCCCTGTCCAGGTGGGAGGCTGGACACAGGCTGGAGCTCCAGCCTTTCACCTGGCTTTGCTCCCCCGGCCGCTCCTCGCCCGCCTCCAGCAAGCTGGCTGCCTCCTTCAGCAGGTTGGGGATGACATCATTGGCTACTTCAAAGAACTCCTTGTAGATCTCCTCGTCTTCCCGGCAGTAGTTGTAGCTGTGAGAGCAGTGGGGTCTCTGTAGGGTCTGAAGGGGTCTCACCATCGGGGGTAGCCCCAGGGACCTGGCGGGGGATGGAGCCCCCAGGGGCTGGGGGAGTAGGTGGGGTCCTCACTGCAAAATGATGCTGTCTGGGTCAGCCCAGAGGAAGAAAGCAAGAATGAGGAGGGGGGCATGGGGCCGAGGGTGGAAGTCCCACTGCTGGATGATGGTGGTTAAACATTGGAGATTTGAGACTGTTCTGAGAAAAAAAAAATTAGGAGGAGAGGGGAGGGAGGGAAAGATGTGACACCTTAATCAGGGTCCCTACCTCCTGGGTAATGGTGGCCTTGCTGCCTAGGGACTGGATGGAAAGGGGATGGGGCGTGGGAGCCAGGCCTCAGTCCTGGACGAGGGTGGTTGGAAACTGATGGAGGGGAAGAAAGGACAGGCTGCAGGCCCTAGTAGGGGGATCCTCACTCCTGGATGACAGTGGCCGTGTCCGCCCAGGCCTGCAGGGCTTCCCGCACATTGCGGTTGCGACAGTGGTAGCCAGCCAGGTACATGTAGGGGTAGATGTGTTCATCCCGATAGTAGGTCTTGGCTGAGGCAATGCCCTGGATGGAGGTGAGGCAGAGGATCCTCAGGGAGGCAGCCCCAGCTGCCCTGCTGGCACAAATGCCCCACCAGGGCACACCCAGAAGGGGCCACAGGAAGATCCCAGGGAGTCCTCTCCATCTCCACTCCCACCTCCACTCGCTGCCAGCCCTTCTACCTGGTCTCCTCCCTGGGTCTACAGGACTGCTGGCTGAGGCCTGGGGCAGACTGCAGGGGTGGGGCCTGCCCTCCGAGCTCAGGGCCCTTCTCTTTCTCAGACACTCTTCTACACATCACCAAAGACTTTCAAGCCCAGCCCAATGGCCCTCCTCCCCACCTACACCCACCAAGTGAACACCCCCTCTTCATCAGTGCTCCTGCCACATTTGACCTCTGTTATACTCCAGGAAGGACAGTAAGCAGTGGCAGAAAAGGCAGGGCTGAGGGGACAAATGCAGCCCCTGCCACTCCCAGGCTGGGGAACCCTGGACACCCCTCAGACAGCCCTGACTGAACTGATTCTGCACACAGTTGACACAAAGTGAGACTGGATGGGCGATACCCCCCAACACACAAAGTTCTCTTCTCATCTGCCCAGATGAGGGCCCCTGCCTCAGCCACTGTTAGGGTCTCCCTTCTGCACCCTCCTTAGATGCCCCCACCTTGTGGTAGAGGGTGAGTGGGTCTGGCCGGCCAGGGGTGGGCTCCAGCTCCTCTAGATCTGCCAGGTTCCCTAAGGCCATGGGGTACCTAGGAAAGGATCATAATTCAGGCTGCCACCCAGCCCCCCGGCCTCACCAGGCGCAGCCTGGCCACTTCCCTCTACTGACCTTTCCAGATGTCCCAGGTCATAGAGCAGCCAGAGCAGCTTCTAGGAGCCGAAGGAGAGAGTTATGAGCCACGGAACAGGGAGGAGAACGGGTCCTTAGCCTATCGGGCAGAGGTGGGGGTCAGAACCAACAGGGACCACCCACCATGTGGAAGGGCCAAAATTCTGGGACCAGCCCTTTAATGGAGTCAAAGCAATTTCACATCTCAATTCTACTCTCCCAAGAGCCCTGGGAAAGGCCAGGCCAGGAATTACTAACCCATTTTTCCAGGAGGGGAAGCTGAAGCTCAGGAAGGGAAAGTGCCCCTGCCCAGGGTCCCACAGCAAGTCAAGTCTGGCCTAGCCCAGTCCTGCCCCATTGGCTCAGCCCTCACCTGCTGCAGCTGCAGAAGCTCCAGCGAGTCGGTGTGCAGGTCAATGGAAGGGTTGATGGCACACACCATGAACGCCACCTCCATCTTGCGGTCACAGCGCATGTATGATCCTTTCAGGTACAGCCAGCTCTTAGGGGGGGATGAGATCATTATGTCTCATGATGGCCCACCCTGTGCCTGCTTCAGGGAATGACAGCCAGGAAAAGGGGCTCTTCTGTCTTCCCTTCCTATGTGGGTGGTGATGGGAAGAAAGGGGTGTGGCCCAAGAAAATGGAGTCCCTTGGGTGGCTTGGGCTACTACAGTATGAAGGGGACAAGGCTGGGGGGAGGGAACAATACCCGCTCAGCCACACCGGCATTGACTGTCTGGCCCCTGCGGTCCTCGTTGCCCTTGCCGTGCCAGGTGACCTCAGCTGTCTGCTCCCCATTGGGCCCAAACACTACCCAGGCATGATCCTCAGACAGGGCGAGGTGGACATCCCGGAGACCCAGGGCCTGGCAGGCCCCAACCACAGCAAAGGCCACACCGGAGCTGTCCAATTTGGTGCCTGTGGAAGGGGGAGGTAATGAAAGAGGGTCCTCTGTGCTTTAACATGGGGAAAGGGGGCCAGGTAGTGATGGGCCACACTCCCTCCCACTCCCTTTCCAAGCCTGTGACCCAACCTCAGATTCTCCTGCCCACTATCCCTCCATCCCTTCCCTCCCACGTGTTCAAAGACTCTCTCCCTGTTTACACCCTCTATGTCCAACAAGATACCTTTCT | GTTTGGGTAGAGGTGAGGCCTGTCCCCTTTGGGCTGGGGGCAGAACATGGGCTCAGAGTTGGGGGACTAAGGGCGGAGCCTGGGTCCCCACAAGCGGTCCGAAGTCCCCAGTAGTTCAGAGGCCTTTGCGCTGCCGCTTGAGGAAAGACAGAGTGTAGTCACTAGGGGTGGACACTTTCTGCTTCTTCATCTGCACTTGCGACTGTGCCGTGAGTTGCAGCTTGATGGCGCTCGAGTTGATCTTGGTGGCCACCAGCAGCTCCTTCATGCCCTTCATCTTCTCACTCTGGAAAGTGAGCACTGGACCCTCCGGCGGTGGTGATGCTGTGGGTGCTGGCACCTGAGCCGTGCTGCCACCTTCAGGGCCTCGGGCTGTGCCAGCGACAGTCCCAGGAGGCTTCCGGGGGGGTCCTGACACTGCACCCTGGCCGGTGCCCAGGCCCTTGTCCAGTGCTGGCTTCTTGGGCGGCGGGGGCTCCTCTGGCTTGGACTCCCGCCGTGGGCCCCGCCGCCGGCCTTCCCGGGCTTCCTCGCCCCACGGCTCCTCGGCCTCGGCCGCCTCGGCCTCTCGGCTCACTATGCGCACCTTCTGCCGCACCTGGGCCAGTGGGGAGAGCAAGGTGAGAGCAAGGTTGCCGGCCAGTGGCTGGAACTCCAGGACCCTGCTCTGGCCATCCCATCCCACCCAGGGGGTCTCAGTCCCATCGGCACCCAAGGGGATGGGCAGATGCTGCCCCTGGGCCAGAAAAGTCTGACAAGCCCGTGGCTGCTGTCACCACCTGTAGTGCCCAGACCTCTGTGCAGCTGTCCCTCACCTGTCCCTCAAAACGGCCTAGGGACTGCACAAGAAAGGTGGCCCAGCCCACATGCAGCACAGGCGTGGGACTGCCCTCCTCCCATTTGCAGATGCCGTCGTAGAATCGCAGCAGGTGGGCGAAGCACTCAGGGTCCTGGAGGGCGGAACCTTGGCTCTGGGTGCCCTGGACGAGGGGGAAGGGAGGGCACAGATCAGTCTCTTACTCACCCCTTAGCAGAGGGCACAGGCCAGGCCCCCCACCTAGGCAAAGACCCCTGGCTCCAGAAAAGGTAAGCATAGGTTGGGAACATTCTTAGAACCTCTTTCCTTTTATAAAGCCAATCCATAGCCAGGACGTACCATCCCTACCTCCACCCCTCAGCTGAGGGAGGGAGTCTGGCCATGAAACTGAAGGCACAGGGTAGAAACCTCTAAAATACCTTCAGTCCCGTCCAACGTGGGCCCAGGACCTCAGTTATAGCAAAAGGGAACATAGCTGTCTGCTCAGGGCCACCTTCCTCCTGCCATCCCTAATCCCGTACATGCAGCCCCCATGGCCTGTGGAAGGGAGCCCTGTCCAGGTGGGAGGCTGGACACAGGCTGGAGCTCCAGCCTTTCACCTGGCTTTGCTCCCCCGGCCGCTCCTCGCCCGCCTCCAGCAAGCTGGCTGCCTCCTTCAGCAGGTTGGGGATGACATCATTGGCTACTTCAAAGAACTCCTTGTAGATCTCCTCGTCTTCCCGGCAGTAGTTGTAGCTGTGAGAGCAGTGGGGTCTCTGTAGGGTCTGAAGGGGTCTCACCATCGGGGGTAGCCCCAGGGACCTGGCGGGGGATGGAGCCCCCAGGGGCTGGGGGAGTAGGTGGGGTCCTCACTGCAAAATGATGCTGTCTGGGTCAGCCCAGAGGAAGAAAGCAAGAATGAGGAGGGGGGCATGGGGCCGAGGGTGGAAGTCCCACTGCTGGATGATGGTGGTTAAACATTGGAGATTTGAGACTGTTCTGAGAAAAAAAAAATTAGGAGGAGAGGGGAGGGAGGGAAAGATGTGACACCTTAATCAGGGTCCCTACCTCCTGGGTAATGGTGGCCTTGCTGCCTAGGGACTGGATGGAAAGGGGATGGGGCGTGGGAGCCAGGCCTCAGTCCTGGACGAGGGTGGTTGGAAACTGATGGAGGGGAAGAAAGGACAGGCTGCAGGCCCTAGTAGGGGGATCCTCACTCCTGGATGACAGTGGCCGTGTCCGCCCAGGCCTGCGGGCTTCCCGCACATTGCGGTTGCGACAGTGGTAGCCAGCCAGGTACATGTAGGGGTAGATGTGTTCATCCCGATAGTAGGTCTTGGCTGAGGCAATGCCCTGGATGGAGGTGAGGCAGAGGATCCTCAGGGAGGCAGCCCCAGCTGCCCTGCTGGCACAAATGCCCCACCAGGGCACACCCAGAAGGGGCCACAGGAAGATCCCAGGGAGTCCTCTCCATCTCCACTCCCACCTCCACTCGCTGCCAGCCCTTCTACCTGGTCTCCTCCCTGGGTCTACAGGACTGCTGGCTGAGGCCTGGGGCAGACTGCAGGGGTGGGGCCTGCCCTCCGAGCTCAGGGCCCTTCTCTTTCTCAGACACTCTTCTACACATCACCAAAGACTTTCAAGCCCAGCCCAATGGCCCTCCTCCCCACCTACACCCACCAAGTGAACACCCCCTCTTCATCAGTGCTCCTGCCACATTTGACCTCTGTTATACTCCAGGAAGGACAGTAAGCAGTGGCAGAAAAGGCAGGGCTGAGGGGACAAATGCAGCCCCTGCCACTCCCAGGCTGGGGAACCCTGGACACCCCTCAGACAGCCCTGACTGAACTGATTCTGCACACAGTTGACACAAAGTGAGACTGGATGGGCGATACCCCCCAACACACAAAGTTCTCTTCTCATCTGCCCAGATGAGGGCCCCTGCCTCAGCCACTGTTAGGGTCTCCCTTCTGCACCCTCCTTAGATGCCCCCACCTTGTGGTAGAGGGTGAGTGGGTCTGGCCGGCCAGGGGTGGGCTCCAGCTCCTCTAGATCTGCCAGGTTCCCTAAGGCCATGGGGTACCTAGGAAAGGATCATAATTCAGGCTGCCACCCAGCCCCCCGGCCTCACCAGGCGCAGCCTGGCCACTTCCCTCTACTGACCTTTCCAGATGTCCCAGGTCATAGAGCAGCCAGAGCAGCTTCTAGGAGCCGAAGGAGAGAGTTATGAGCCACGGAACAGGGAGGAGAACGGGTCCTTAGCCTATCGGGCAGAGGTGGGGGTCAGAACCAACAGGGACCACCCACCATGTGGAAGGGCCAAAATTCTGGGACCAGCCCTTTAATGGAGTCAAAGCAATTTCACATCTCAATTCTACTCTCCCAAGAGCCCTGGGAAAGGCCAGGCCAGGAATTACTAACCCATTTTTCCAGGAGGGGAAGCTGAAGCTCAGGAAGGGAAAGTGCCCCTGCCCAGGGTCCCACAGCAAGTCAAGTCTGGCCTAGCCCAGTCCTGCCCCATTGGCTCAGCCCTCACCTGCTGCAGCTGCAGAAGCTCCAGCGAGTCGGTGTGCAGGTCAATGGAAGGGTTGATGGCACACACCATGAACGCCACCTCCATCTTGCGGTCACAGCGCATGTATGATCCTTTCAGGTACAGCCAGCTCTTAGGGGGGGATGAGATCATTATGTCTCATGATGGCCCACCCTGTGCCTGCTTCAGGGAATGACAGCCAGGAAAAGGGGCTCTTCTGTCTTCCCTTCCTATGTGGGTGGTGATGGGAAGAAAGGGGTGTGGCCCAAGAAAATGGAGTCCCTTGGGTGGCTTGGGCTACTACAGTATGAAGGGGACAAGGCTGGGGGGAGGGAACAATACCCGCTCAGCCACACCGGCATTGACTGTCTGGCCCCTGCGGTCCTCGTTGCCCTTGCCGTGCCAGGTGACCTCAGCTGTCTGCTCCCCATTGGGCCCAAACACTACCCAGGCATGATCCTCAGACAGGGCGAGGTGGACATCCCGGAGACCCAGGGCCTGGCAGGCCCCAACCACAGCAAAGGCCACACCGGAGCTGTCCAATTTGGTGCCTGTGGAAGGGGGAGGTAATGAAAGAGGGTCCTCTGTGCTTTAACATGGGGAAAGGGGGCCAGGTAGTGATGGGCCACACTCCCTCCCACTCCCTTTCCAAGCCTGTGACCCAACCTCAGATTCTCCTGCCCACTATCCCTCCATCCCTTCCCTCCCACGTGTTCAAAGACTCTCTCCCTGTTTACACCCTCTATGTCCAACAAGATACCTTTCTN | pathogenic | 177,789 |
Is the variant located on chromosome 11 at position 64806274, gene MEN1 (menin 1), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Multiple_endocrine_neoplasia,_type_1'] | TAGAGGTGAGGCCTGTCCCCTTTGGGCTGGGGGCAGAACATGGGCTCAGAGTTGGGGGACTAAGGGCGGAGCCTGGGTCCCCACAAGCGGTCCGAAGTCCCCAGTAGTTCAGAGGCCTTTGCGCTGCCGCTTGAGGAAAGACAGAGTGTAGTCACTAGGGGTGGACACTTTCTGCTTCTTCATCTGCACTTGCGACTGTGCCGTGAGTTGCAGCTTGATGGCGCTCGAGTTGATCTTGGTGGCCACCAGCAGCTCCTTCATGCCCTTCATCTTCTCACTCTGGAAAGTGAGCACTGGACCCTCCGGCGGTGGTGATGCTGTGGGTGCTGGCACCTGAGCCGTGCTGCCACCTTCAGGGCCTCGGGCTGTGCCAGCGACAGTCCCAGGAGGCTTCCGGGGGGGTCCTGACACTGCACCCTGGCCGGTGCCCAGGCCCTTGTCCAGTGCTGGCTTCTTGGGCGGCGGGGGCTCCTCTGGCTTGGACTCCCGCCGTGGGCCCCGCCGCCGGCCTTCCCGGGCTTCCTCGCCCCACGGCTCCTCGGCCTCGGCCGCCTCGGCCTCTCGGCTCACTATGCGCACCTTCTGCCGCACCTGGGCCAGTGGGGAGAGCAAGGTGAGAGCAAGGTTGCCGGCCAGTGGCTGGAACTCCAGGACCCTGCTCTGGCCATCCCATCCCACCCAGGGGGTCTCAGTCCCATCGGCACCCAAGGGGATGGGCAGATGCTGCCCCTGGGCCAGAAAAGTCTGACAAGCCCGTGGCTGCTGTCACCACCTGTAGTGCCCAGACCTCTGTGCAGCTGTCCCTCACCTGTCCCTCAAAACGGCCTAGGGACTGCACAAGAAAGGTGGCCCAGCCCACATGCAGCACAGGCGTGGGACTGCCCTCCTCCCATTTGCAGATGCCGTCGTAGAATCGCAGCAGGTGGGCGAAGCACTCAGGGTCCTGGAGGGCGGAACCTTGGCTCTGGGTGCCCTGGACGAGGGGGAAGGGAGGGCACAGATCAGTCTCTTACTCACCCCTTAGCAGAGGGCACAGGCCAGGCCCCCCACCTAGGCAAAGACCCCTGGCTCCAGAAAAGGTAAGCATAGGTTGGGAACATTCTTAGAACCTCTTTCCTTTTATAAAGCCAATCCATAGCCAGGACGTACCATCCCTACCTCCACCCCTCAGCTGAGGGAGGGAGTCTGGCCATGAAACTGAAGGCACAGGGTAGAAACCTCTAAAATACCTTCAGTCCCGTCCAACGTGGGCCCAGGACCTCAGTTATAGCAAAAGGGAACATAGCTGTCTGCTCAGGGCCACCTTCCTCCTGCCATCCCTAATCCCGTACATGCAGCCCCCATGGCCTGTGGAAGGGAGCCCTGTCCAGGTGGGAGGCTGGACACAGGCTGGAGCTCCAGCCTTTCACCTGGCTTTGCTCCCCCGGCCGCTCCTCGCCCGCCTCCAGCAAGCTGGCTGCCTCCTTCAGCAGGTTGGGGATGACATCATTGGCTACTTCAAAGAACTCCTTGTAGATCTCCTCGTCTTCCCGGCAGTAGTTGTAGCTGTGAGAGCAGTGGGGTCTCTGTAGGGTCTGAAGGGGTCTCACCATCGGGGGTAGCCCCAGGGACCTGGCGGGGGATGGAGCCCCCAGGGGCTGGGGGAGTAGGTGGGGTCCTCACTGCAAAATGATGCTGTCTGGGTCAGCCCAGAGGAAGAAAGCAAGAATGAGGAGGGGGGCATGGGGCCGAGGGTGGAAGTCCCACTGCTGGATGATGGTGGTTAAACATTGGAGATTTGAGACTGTTCTGAGAAAAAAAAAATTAGGAGGAGAGGGGAGGGAGGGAAAGATGTGACACCTTAATCAGGGTCCCTACCTCCTGGGTAATGGTGGCCTTGCTGCCTAGGGACTGGATGGAAAGGGGATGGGGCGTGGGAGCCAGGCCTCAGTCCTGGACGAGGGTGGTTGGAAACTGATGGAGGGGAAGAAAGGACAGGCTGCAGGCCCTAGTAGGGGGATCCTCACTCCTGGATGACAGTGGCCGTGTCCGCCCAGGCCTGCAGGGCTTCCCGCACATTGCGGTTGCGACAGTGGTAGCCAGCCAGGTACATGTAGGGGTAGATGTGTTCATCCCGATAGTAGGTCTTGGCTGAGGCAATGCCCTGGATGGAGGTGAGGCAGAGGATCCTCAGGGAGGCAGCCCCAGCTGCCCTGCTGGCACAAATGCCCCACCAGGGCACACCCAGAAGGGGCCACAGGAAGATCCCAGGGAGTCCTCTCCATCTCCACTCCCACCTCCACTCGCTGCCAGCCCTTCTACCTGGTCTCCTCCCTGGGTCTACAGGACTGCTGGCTGAGGCCTGGGGCAGACTGCAGGGGTGGGGCCTGCCCTCCGAGCTCAGGGCCCTTCTCTTTCTCAGACACTCTTCTACACATCACCAAAGACTTTCAAGCCCAGCCCAATGGCCCTCCTCCCCACCTACACCCACCAAGTGAACACCCCCTCTTCATCAGTGCTCCTGCCACATTTGACCTCTGTTATACTCCAGGAAGGACAGTAAGCAGTGGCAGAAAAGGCAGGGCTGAGGGGACAAATGCAGCCCCTGCCACTCCCAGGCTGGGGAACCCTGGACACCCCTCAGACAGCCCTGACTGAACTGATTCTGCACACAGTTGACACAAAGTGAGACTGGATGGGCGATACCCCCCAACACACAAAGTTCTCTTCTCATCTGCCCAGATGAGGGCCCCTGCCTCAGCCACTGTTAGGGTCTCCCTTCTGCACCCTCCTTAGATGCCCCCACCTTGTGGTAGAGGGTGAGTGGGTCTGGCCGGCCAGGGGTGGGCTCCAGCTCCTCTAGATCTGCCAGGTTCCCTAAGGCCATGGGGTACCTAGGAAAGGATCATAATTCAGGCTGCCACCCAGCCCCCCGGCCTCACCAGGCGCAGCCTGGCCACTTCCCTCTACTGACCTTTCCAGATGTCCCAGGTCATAGAGCAGCCAGAGCAGCTTCTAGGAGCCGAAGGAGAGAGTTATGAGCCACGGAACAGGGAGGAGAACGGGTCCTTAGCCTATCGGGCAGAGGTGGGGGTCAGAACCAACAGGGACCACCCACCATGTGGAAGGGCCAAAATTCTGGGACCAGCCCTTTAATGGAGTCAAAGCAATTTCACATCTCAATTCTACTCTCCCAAGAGCCCTGGGAAAGGCCAGGCCAGGAATTACTAACCCATTTTTCCAGGAGGGGAAGCTGAAGCTCAGGAAGGGAAAGTGCCCCTGCCCAGGGTCCCACAGCAAGTCAAGTCTGGCCTAGCCCAGTCCTGCCCCATTGGCTCAGCCCTCACCTGCTGCAGCTGCAGAAGCTCCAGCGAGTCGGTGTGCAGGTCAATGGAAGGGTTGATGGCACACACCATGAACGCCACCTCCATCTTGCGGTCACAGCGCATGTATGATCCTTTCAGGTACAGCCAGCTCTTAGGGGGGGATGAGATCATTATGTCTCATGATGGCCCACCCTGTGCCTGCTTCAGGGAATGACAGCCAGGAAAAGGGGCTCTTCTGTCTTCCCTTCCTATGTGGGTGGTGATGGGAAGAAAGGGGTGTGGCCCAAGAAAATGGAGTCCCTTGGGTGGCTTGGGCTACTACAGTATGAAGGGGACAAGGCTGGGGGGAGGGAACAATACCCGCTCAGCCACACCGGCATTGACTGTCTGGCCCCTGCGGTCCTCGTTGCCCTTGCCGTGCCAGGTGACCTCAGCTGTCTGCTCCCCATTGGGCCCAAACACTACCCAGGCATGATCCTCAGACAGGGCGAGGTGGACATCCCGGAGACCCAGGGCCTGGCAGGCCCCAACCACAGCAAAGGCCACACCGGAGCTGTCCAATTTGGTGCCTGTGGAAGGGGGAGGTAATGAAAGAGGGTCCTCTGTGCTTTAACATGGGGAAAGGGGGCCAGGTAGTGATGGGCCACACTCCCTCCCACTCCCTTTCCAAGCCTGTGACCCAACCTCAGATTCTCCTGCCCACTATCCCTCCATCCCTTCCCTCCCACGTGTTCAAAGACTCTCTCCCTGTTTACACCCTCTATGTCCAACAAGATACCTTTCTGGATATC | TAGAGGTGAGGCCTGTCCCCTTTGGGCTGGGGGCAGAACATGGGCTCAGAGTTGGGGGACTAAGGGCGGAGCCTGGGTCCCCACAAGCGGTCCGAAGTCCCCAGTAGTTCAGAGGCCTTTGCGCTGCCGCTTGAGGAAAGACAGAGTGTAGTCACTAGGGGTGGACACTTTCTGCTTCTTCATCTGCACTTGCGACTGTGCCGTGAGTTGCAGCTTGATGGCGCTCGAGTTGATCTTGGTGGCCACCAGCAGCTCCTTCATGCCCTTCATCTTCTCACTCTGGAAAGTGAGCACTGGACCCTCCGGCGGTGGTGATGCTGTGGGTGCTGGCACCTGAGCCGTGCTGCCACCTTCAGGGCCTCGGGCTGTGCCAGCGACAGTCCCAGGAGGCTTCCGGGGGGGTCCTGACACTGCACCCTGGCCGGTGCCCAGGCCCTTGTCCAGTGCTGGCTTCTTGGGCGGCGGGGGCTCCTCTGGCTTGGACTCCCGCCGTGGGCCCCGCCGCCGGCCTTCCCGGGCTTCCTCGCCCCACGGCTCCTCGGCCTCGGCCGCCTCGGCCTCTCGGCTCACTATGCGCACCTTCTGCCGCACCTGGGCCAGTGGGGAGAGCAAGGTGAGAGCAAGGTTGCCGGCCAGTGGCTGGAACTCCAGGACCCTGCTCTGGCCATCCCATCCCACCCAGGGGGTCTCAGTCCCATCGGCACCCAAGGGGATGGGCAGATGCTGCCCCTGGGCCAGAAAAGTCTGACAAGCCCGTGGCTGCTGTCACCACCTGTAGTGCCCAGACCTCTGTGCAGCTGTCCCTCACCTGTCCCTCAAAACGGCCTAGGGACTGCACAAGAAAGGTGGCCCAGCCCACATGCAGCACAGGCGTGGGACTGCCCTCCTCCCATTTGCAGATGCCGTCGTAGAATCGCAGCAGGTGGGCGAAGCACTCAGGGTCCTGGAGGGCGGAACCTTGGCTCTGGGTGCCCTGGACGAGGGGGAAGGGAGGGCACAGATCAGTCTCTTACTCACCCCTTAGCAGAGGGCACAGGCCAGGCCCCCCACCTAGGCAAAGACCCCTGGCTCCAGAAAAGGTAAGCATAGGTTGGGAACATTCTTAGAACCTCTTTCCTTTTATAAAGCCAATCCATAGCCAGGACGTACCATCCCTACCTCCACCCCTCAGCTGAGGGAGGGAGTCTGGCCATGAAACTGAAGGCACAGGGTAGAAACCTCTAAAATACCTTCAGTCCCGTCCAACGTGGGCCCAGGACCTCAGTTATAGCAAAAGGGAACATAGCTGTCTGCTCAGGGCCACCTTCCTCCTGCCATCCCTAATCCCGTACATGCAGCCCCCATGGCCTGTGGAAGGGAGCCCTGTCCAGGTGGGAGGCTGGACACAGGCTGGAGCTCCAGCCTTTCACCTGGCTTTGCTCCCCCGGCCGCTCCTCGCCCGCCTCCAGCAAGCTGGCTGCCTCCTTCAGCAGGTTGGGGATGACATCATTGGCTACTTCAAAGAACTCCTTGTAGATCTCCTCGTCTTCCCGGCAGTAGTTGTAGCTGTGAGAGCAGTGGGGTCTCTGTAGGGTCTGAAGGGGTCTCACCATCGGGGGTAGCCCCAGGGACCTGGCGGGGGATGGAGCCCCCAGGGGCTGGGGGAGTAGGTGGGGTCCTCACTGCAAAATGATGCTGTCTGGGTCAGCCCAGAGGAAGAAAGCAAGAATGAGGAGGGGGGCATGGGGCCGAGGGTGGAAGTCCCACTGCTGGATGATGGTGGTTAAACATTGGAGATTTGAGACTGTTCTGAGAAAAAAAAAATTAGGAGGAGAGGGGAGGGAGGGAAAGATGTGACACCTTAATCAGGGTCCCTACCTCCTGGGTAATGGTGGCCTTGCTGCCTAGGGACTGGATGGAAAGGGGATGGGGCGTGGGAGCCAGGCCTCAGTCCTGGACGAGGGTGGTTGGAAACTGATGGAGGGGAAGAAAGGACAGGCTGCAGGCCCTAGTAGGGGGATCCTCACTCCTGGATGACAGTGGCCGTGTCCGCCCAGGCCTGCAGGGCTTCCCCGCACATTGCGGTTGCGACAGTGGTAGCCAGCCAGGTACATGTAGGGGTAGATGTGTTCATCCCGATAGTAGGTCTTGGCTGAGGCAATGCCCTGGATGGAGGTGAGGCAGAGGATCCTCAGGGAGGCAGCCCCAGCTGCCCTGCTGGCACAAATGCCCCACCAGGGCACACCCAGAAGGGGCCACAGGAAGATCCCAGGGAGTCCTCTCCATCTCCACTCCCACCTCCACTCGCTGCCAGCCCTTCTACCTGGTCTCCTCCCTGGGTCTACAGGACTGCTGGCTGAGGCCTGGGGCAGACTGCAGGGGTGGGGCCTGCCCTCCGAGCTCAGGGCCCTTCTCTTTCTCAGACACTCTTCTACACATCACCAAAGACTTTCAAGCCCAGCCCAATGGCCCTCCTCCCCACCTACACCCACCAAGTGAACACCCCCTCTTCATCAGTGCTCCTGCCACATTTGACCTCTGTTATACTCCAGGAAGGACAGTAAGCAGTGGCAGAAAAGGCAGGGCTGAGGGGACAAATGCAGCCCCTGCCACTCCCAGGCTGGGGAACCCTGGACACCCCTCAGACAGCCCTGACTGAACTGATTCTGCACACAGTTGACACAAAGTGAGACTGGATGGGCGATACCCCCCAACACACAAAGTTCTCTTCTCATCTGCCCAGATGAGGGCCCCTGCCTCAGCCACTGTTAGGGTCTCCCTTCTGCACCCTCCTTAGATGCCCCCACCTTGTGGTAGAGGGTGAGTGGGTCTGGCCGGCCAGGGGTGGGCTCCAGCTCCTCTAGATCTGCCAGGTTCCCTAAGGCCATGGGGTACCTAGGAAAGGATCATAATTCAGGCTGCCACCCAGCCCCCCGGCCTCACCAGGCGCAGCCTGGCCACTTCCCTCTACTGACCTTTCCAGATGTCCCAGGTCATAGAGCAGCCAGAGCAGCTTCTAGGAGCCGAAGGAGAGAGTTATGAGCCACGGAACAGGGAGGAGAACGGGTCCTTAGCCTATCGGGCAGAGGTGGGGGTCAGAACCAACAGGGACCACCCACCATGTGGAAGGGCCAAAATTCTGGGACCAGCCCTTTAATGGAGTCAAAGCAATTTCACATCTCAATTCTACTCTCCCAAGAGCCCTGGGAAAGGCCAGGCCAGGAATTACTAACCCATTTTTCCAGGAGGGGAAGCTGAAGCTCAGGAAGGGAAAGTGCCCCTGCCCAGGGTCCCACAGCAAGTCAAGTCTGGCCTAGCCCAGTCCTGCCCCATTGGCTCAGCCCTCACCTGCTGCAGCTGCAGAAGCTCCAGCGAGTCGGTGTGCAGGTCAATGGAAGGGTTGATGGCACACACCATGAACGCCACCTCCATCTTGCGGTCACAGCGCATGTATGATCCTTTCAGGTACAGCCAGCTCTTAGGGGGGGATGAGATCATTATGTCTCATGATGGCCCACCCTGTGCCTGCTTCAGGGAATGACAGCCAGGAAAAGGGGCTCTTCTGTCTTCCCTTCCTATGTGGGTGGTGATGGGAAGAAAGGGGTGTGGCCCAAGAAAATGGAGTCCCTTGGGTGGCTTGGGCTACTACAGTATGAAGGGGACAAGGCTGGGGGGAGGGAACAATACCCGCTCAGCCACACCGGCATTGACTGTCTGGCCCCTGCGGTCCTCGTTGCCCTTGCCGTGCCAGGTGACCTCAGCTGTCTGCTCCCCATTGGGCCCAAACACTACCCAGGCATGATCCTCAGACAGGGCGAGGTGGACATCCCGGAGACCCAGGGCCTGGCAGGCCCCAACCACAGCAAAGGCCACACCGGAGCTGTCCAATTTGGTGCCTGTGGAAGGGGGAGGTAATGAAAGAGGGTCCTCTGTGCTTTAACATGGGGAAAGGGGGCCAGGTAGTGATGGGCCACACTCCCTCCCACTCCCTTTCCAAGCCTGTGACCCAACCTCAGATTCTCCTGCCCACTATCCCTCCATCCCTTCCCTCCCACGTGTTCAAAGACTCTCTCCCTGTTTACACCCTCTATGTCCAACAAGATACCTTTCTGGATAT | pathogenic | 177,792 |
Assess the variant on chromosome 11, position 64806275, impacting MEN1 (menin 1): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Multiple_endocrine_neoplasia,_type_1'] | AGAGGTGAGGCCTGTCCCCTTTGGGCTGGGGGCAGAACATGGGCTCAGAGTTGGGGGACTAAGGGCGGAGCCTGGGTCCCCACAAGCGGTCCGAAGTCCCCAGTAGTTCAGAGGCCTTTGCGCTGCCGCTTGAGGAAAGACAGAGTGTAGTCACTAGGGGTGGACACTTTCTGCTTCTTCATCTGCACTTGCGACTGTGCCGTGAGTTGCAGCTTGATGGCGCTCGAGTTGATCTTGGTGGCCACCAGCAGCTCCTTCATGCCCTTCATCTTCTCACTCTGGAAAGTGAGCACTGGACCCTCCGGCGGTGGTGATGCTGTGGGTGCTGGCACCTGAGCCGTGCTGCCACCTTCAGGGCCTCGGGCTGTGCCAGCGACAGTCCCAGGAGGCTTCCGGGGGGGTCCTGACACTGCACCCTGGCCGGTGCCCAGGCCCTTGTCCAGTGCTGGCTTCTTGGGCGGCGGGGGCTCCTCTGGCTTGGACTCCCGCCGTGGGCCCCGCCGCCGGCCTTCCCGGGCTTCCTCGCCCCACGGCTCCTCGGCCTCGGCCGCCTCGGCCTCTCGGCTCACTATGCGCACCTTCTGCCGCACCTGGGCCAGTGGGGAGAGCAAGGTGAGAGCAAGGTTGCCGGCCAGTGGCTGGAACTCCAGGACCCTGCTCTGGCCATCCCATCCCACCCAGGGGGTCTCAGTCCCATCGGCACCCAAGGGGATGGGCAGATGCTGCCCCTGGGCCAGAAAAGTCTGACAAGCCCGTGGCTGCTGTCACCACCTGTAGTGCCCAGACCTCTGTGCAGCTGTCCCTCACCTGTCCCTCAAAACGGCCTAGGGACTGCACAAGAAAGGTGGCCCAGCCCACATGCAGCACAGGCGTGGGACTGCCCTCCTCCCATTTGCAGATGCCGTCGTAGAATCGCAGCAGGTGGGCGAAGCACTCAGGGTCCTGGAGGGCGGAACCTTGGCTCTGGGTGCCCTGGACGAGGGGGAAGGGAGGGCACAGATCAGTCTCTTACTCACCCCTTAGCAGAGGGCACAGGCCAGGCCCCCCACCTAGGCAAAGACCCCTGGCTCCAGAAAAGGTAAGCATAGGTTGGGAACATTCTTAGAACCTCTTTCCTTTTATAAAGCCAATCCATAGCCAGGACGTACCATCCCTACCTCCACCCCTCAGCTGAGGGAGGGAGTCTGGCCATGAAACTGAAGGCACAGGGTAGAAACCTCTAAAATACCTTCAGTCCCGTCCAACGTGGGCCCAGGACCTCAGTTATAGCAAAAGGGAACATAGCTGTCTGCTCAGGGCCACCTTCCTCCTGCCATCCCTAATCCCGTACATGCAGCCCCCATGGCCTGTGGAAGGGAGCCCTGTCCAGGTGGGAGGCTGGACACAGGCTGGAGCTCCAGCCTTTCACCTGGCTTTGCTCCCCCGGCCGCTCCTCGCCCGCCTCCAGCAAGCTGGCTGCCTCCTTCAGCAGGTTGGGGATGACATCATTGGCTACTTCAAAGAACTCCTTGTAGATCTCCTCGTCTTCCCGGCAGTAGTTGTAGCTGTGAGAGCAGTGGGGTCTCTGTAGGGTCTGAAGGGGTCTCACCATCGGGGGTAGCCCCAGGGACCTGGCGGGGGATGGAGCCCCCAGGGGCTGGGGGAGTAGGTGGGGTCCTCACTGCAAAATGATGCTGTCTGGGTCAGCCCAGAGGAAGAAAGCAAGAATGAGGAGGGGGGCATGGGGCCGAGGGTGGAAGTCCCACTGCTGGATGATGGTGGTTAAACATTGGAGATTTGAGACTGTTCTGAGAAAAAAAAAATTAGGAGGAGAGGGGAGGGAGGGAAAGATGTGACACCTTAATCAGGGTCCCTACCTCCTGGGTAATGGTGGCCTTGCTGCCTAGGGACTGGATGGAAAGGGGATGGGGCGTGGGAGCCAGGCCTCAGTCCTGGACGAGGGTGGTTGGAAACTGATGGAGGGGAAGAAAGGACAGGCTGCAGGCCCTAGTAGGGGGATCCTCACTCCTGGATGACAGTGGCCGTGTCCGCCCAGGCCTGCAGGGCTTCCCGCACATTGCGGTTGCGACAGTGGTAGCCAGCCAGGTACATGTAGGGGTAGATGTGTTCATCCCGATAGTAGGTCTTGGCTGAGGCAATGCCCTGGATGGAGGTGAGGCAGAGGATCCTCAGGGAGGCAGCCCCAGCTGCCCTGCTGGCACAAATGCCCCACCAGGGCACACCCAGAAGGGGCCACAGGAAGATCCCAGGGAGTCCTCTCCATCTCCACTCCCACCTCCACTCGCTGCCAGCCCTTCTACCTGGTCTCCTCCCTGGGTCTACAGGACTGCTGGCTGAGGCCTGGGGCAGACTGCAGGGGTGGGGCCTGCCCTCCGAGCTCAGGGCCCTTCTCTTTCTCAGACACTCTTCTACACATCACCAAAGACTTTCAAGCCCAGCCCAATGGCCCTCCTCCCCACCTACACCCACCAAGTGAACACCCCCTCTTCATCAGTGCTCCTGCCACATTTGACCTCTGTTATACTCCAGGAAGGACAGTAAGCAGTGGCAGAAAAGGCAGGGCTGAGGGGACAAATGCAGCCCCTGCCACTCCCAGGCTGGGGAACCCTGGACACCCCTCAGACAGCCCTGACTGAACTGATTCTGCACACAGTTGACACAAAGTGAGACTGGATGGGCGATACCCCCCAACACACAAAGTTCTCTTCTCATCTGCCCAGATGAGGGCCCCTGCCTCAGCCACTGTTAGGGTCTCCCTTCTGCACCCTCCTTAGATGCCCCCACCTTGTGGTAGAGGGTGAGTGGGTCTGGCCGGCCAGGGGTGGGCTCCAGCTCCTCTAGATCTGCCAGGTTCCCTAAGGCCATGGGGTACCTAGGAAAGGATCATAATTCAGGCTGCCACCCAGCCCCCCGGCCTCACCAGGCGCAGCCTGGCCACTTCCCTCTACTGACCTTTCCAGATGTCCCAGGTCATAGAGCAGCCAGAGCAGCTTCTAGGAGCCGAAGGAGAGAGTTATGAGCCACGGAACAGGGAGGAGAACGGGTCCTTAGCCTATCGGGCAGAGGTGGGGGTCAGAACCAACAGGGACCACCCACCATGTGGAAGGGCCAAAATTCTGGGACCAGCCCTTTAATGGAGTCAAAGCAATTTCACATCTCAATTCTACTCTCCCAAGAGCCCTGGGAAAGGCCAGGCCAGGAATTACTAACCCATTTTTCCAGGAGGGGAAGCTGAAGCTCAGGAAGGGAAAGTGCCCCTGCCCAGGGTCCCACAGCAAGTCAAGTCTGGCCTAGCCCAGTCCTGCCCCATTGGCTCAGCCCTCACCTGCTGCAGCTGCAGAAGCTCCAGCGAGTCGGTGTGCAGGTCAATGGAAGGGTTGATGGCACACACCATGAACGCCACCTCCATCTTGCGGTCACAGCGCATGTATGATCCTTTCAGGTACAGCCAGCTCTTAGGGGGGGATGAGATCATTATGTCTCATGATGGCCCACCCTGTGCCTGCTTCAGGGAATGACAGCCAGGAAAAGGGGCTCTTCTGTCTTCCCTTCCTATGTGGGTGGTGATGGGAAGAAAGGGGTGTGGCCCAAGAAAATGGAGTCCCTTGGGTGGCTTGGGCTACTACAGTATGAAGGGGACAAGGCTGGGGGGAGGGAACAATACCCGCTCAGCCACACCGGCATTGACTGTCTGGCCCCTGCGGTCCTCGTTGCCCTTGCCGTGCCAGGTGACCTCAGCTGTCTGCTCCCCATTGGGCCCAAACACTACCCAGGCATGATCCTCAGACAGGGCGAGGTGGACATCCCGGAGACCCAGGGCCTGGCAGGCCCCAACCACAGCAAAGGCCACACCGGAGCTGTCCAATTTGGTGCCTGTGGAAGGGGGAGGTAATGAAAGAGGGTCCTCTGTGCTTTAACATGGGGAAAGGGGGCCAGGTAGTGATGGGCCACACTCCCTCCCACTCCCTTTCCAAGCCTGTGACCCAACCTCAGATTCTCCTGCCCACTATCCCTCCATCCCTTCCCTCCCACGTGTTCAAAGACTCTCTCCCTGTTTACACCCTCTATGTCCAACAAGATACCTTTCTGGATATCC | AGAGGTGAGGCCTGTCCCCTTTGGGCTGGGGGCAGAACATGGGCTCAGAGTTGGGGGACTAAGGGCGGAGCCTGGGTCCCCACAAGCGGTCCGAAGTCCCCAGTAGTTCAGAGGCCTTTGCGCTGCCGCTTGAGGAAAGACAGAGTGTAGTCACTAGGGGTGGACACTTTCTGCTTCTTCATCTGCACTTGCGACTGTGCCGTGAGTTGCAGCTTGATGGCGCTCGAGTTGATCTTGGTGGCCACCAGCAGCTCCTTCATGCCCTTCATCTTCTCACTCTGGAAAGTGAGCACTGGACCCTCCGGCGGTGGTGATGCTGTGGGTGCTGGCACCTGAGCCGTGCTGCCACCTTCAGGGCCTCGGGCTGTGCCAGCGACAGTCCCAGGAGGCTTCCGGGGGGGTCCTGACACTGCACCCTGGCCGGTGCCCAGGCCCTTGTCCAGTGCTGGCTTCTTGGGCGGCGGGGGCTCCTCTGGCTTGGACTCCCGCCGTGGGCCCCGCCGCCGGCCTTCCCGGGCTTCCTCGCCCCACGGCTCCTCGGCCTCGGCCGCCTCGGCCTCTCGGCTCACTATGCGCACCTTCTGCCGCACCTGGGCCAGTGGGGAGAGCAAGGTGAGAGCAAGGTTGCCGGCCAGTGGCTGGAACTCCAGGACCCTGCTCTGGCCATCCCATCCCACCCAGGGGGTCTCAGTCCCATCGGCACCCAAGGGGATGGGCAGATGCTGCCCCTGGGCCAGAAAAGTCTGACAAGCCCGTGGCTGCTGTCACCACCTGTAGTGCCCAGACCTCTGTGCAGCTGTCCCTCACCTGTCCCTCAAAACGGCCTAGGGACTGCACAAGAAAGGTGGCCCAGCCCACATGCAGCACAGGCGTGGGACTGCCCTCCTCCCATTTGCAGATGCCGTCGTAGAATCGCAGCAGGTGGGCGAAGCACTCAGGGTCCTGGAGGGCGGAACCTTGGCTCTGGGTGCCCTGGACGAGGGGGAAGGGAGGGCACAGATCAGTCTCTTACTCACCCCTTAGCAGAGGGCACAGGCCAGGCCCCCCACCTAGGCAAAGACCCCTGGCTCCAGAAAAGGTAAGCATAGGTTGGGAACATTCTTAGAACCTCTTTCCTTTTATAAAGCCAATCCATAGCCAGGACGTACCATCCCTACCTCCACCCCTCAGCTGAGGGAGGGAGTCTGGCCATGAAACTGAAGGCACAGGGTAGAAACCTCTAAAATACCTTCAGTCCCGTCCAACGTGGGCCCAGGACCTCAGTTATAGCAAAAGGGAACATAGCTGTCTGCTCAGGGCCACCTTCCTCCTGCCATCCCTAATCCCGTACATGCAGCCCCCATGGCCTGTGGAAGGGAGCCCTGTCCAGGTGGGAGGCTGGACACAGGCTGGAGCTCCAGCCTTTCACCTGGCTTTGCTCCCCCGGCCGCTCCTCGCCCGCCTCCAGCAAGCTGGCTGCCTCCTTCAGCAGGTTGGGGATGACATCATTGGCTACTTCAAAGAACTCCTTGTAGATCTCCTCGTCTTCCCGGCAGTAGTTGTAGCTGTGAGAGCAGTGGGGTCTCTGTAGGGTCTGAAGGGGTCTCACCATCGGGGGTAGCCCCAGGGACCTGGCGGGGGATGGAGCCCCCAGGGGCTGGGGGAGTAGGTGGGGTCCTCACTGCAAAATGATGCTGTCTGGGTCAGCCCAGAGGAAGAAAGCAAGAATGAGGAGGGGGGCATGGGGCCGAGGGTGGAAGTCCCACTGCTGGATGATGGTGGTTAAACATTGGAGATTTGAGACTGTTCTGAGAAAAAAAAAATTAGGAGGAGAGGGGAGGGAGGGAAAGATGTGACACCTTAATCAGGGTCCCTACCTCCTGGGTAATGGTGGCCTTGCTGCCTAGGGACTGGATGGAAAGGGGATGGGGCGTGGGAGCCAGGCCTCAGTCCTGGACGAGGGTGGTTGGAAACTGATGGAGGGGAAGAAAGGACAGGCTGCAGGCCCTAGTAGGGGGATCCTCACTCCTGGATGACAGTGGCCGTGTCCGCCCAGGCCTGCAGGGCTTCCCGCACCGCACATTGCGGTTGCGACAGTGGTAGCCAGCCAGGTACATGTAGGGGTAGATGTGTTCATCCCGATAGTAGGTCTTGGCTGAGGCAATGCCCTGGATGGAGGTGAGGCAGAGGATCCTCAGGGAGGCAGCCCCAGCTGCCCTGCTGGCACAAATGCCCCACCAGGGCACACCCAGAAGGGGCCACAGGAAGATCCCAGGGAGTCCTCTCCATCTCCACTCCCACCTCCACTCGCTGCCAGCCCTTCTACCTGGTCTCCTCCCTGGGTCTACAGGACTGCTGGCTGAGGCCTGGGGCAGACTGCAGGGGTGGGGCCTGCCCTCCGAGCTCAGGGCCCTTCTCTTTCTCAGACACTCTTCTACACATCACCAAAGACTTTCAAGCCCAGCCCAATGGCCCTCCTCCCCACCTACACCCACCAAGTGAACACCCCCTCTTCATCAGTGCTCCTGCCACATTTGACCTCTGTTATACTCCAGGAAGGACAGTAAGCAGTGGCAGAAAAGGCAGGGCTGAGGGGACAAATGCAGCCCCTGCCACTCCCAGGCTGGGGAACCCTGGACACCCCTCAGACAGCCCTGACTGAACTGATTCTGCACACAGTTGACACAAAGTGAGACTGGATGGGCGATACCCCCCAACACACAAAGTTCTCTTCTCATCTGCCCAGATGAGGGCCCCTGCCTCAGCCACTGTTAGGGTCTCCCTTCTGCACCCTCCTTAGATGCCCCCACCTTGTGGTAGAGGGTGAGTGGGTCTGGCCGGCCAGGGGTGGGCTCCAGCTCCTCTAGATCTGCCAGGTTCCCTAAGGCCATGGGGTACCTAGGAAAGGATCATAATTCAGGCTGCCACCCAGCCCCCCGGCCTCACCAGGCGCAGCCTGGCCACTTCCCTCTACTGACCTTTCCAGATGTCCCAGGTCATAGAGCAGCCAGAGCAGCTTCTAGGAGCCGAAGGAGAGAGTTATGAGCCACGGAACAGGGAGGAGAACGGGTCCTTAGCCTATCGGGCAGAGGTGGGGGTCAGAACCAACAGGGACCACCCACCATGTGGAAGGGCCAAAATTCTGGGACCAGCCCTTTAATGGAGTCAAAGCAATTTCACATCTCAATTCTACTCTCCCAAGAGCCCTGGGAAAGGCCAGGCCAGGAATTACTAACCCATTTTTCCAGGAGGGGAAGCTGAAGCTCAGGAAGGGAAAGTGCCCCTGCCCAGGGTCCCACAGCAAGTCAAGTCTGGCCTAGCCCAGTCCTGCCCCATTGGCTCAGCCCTCACCTGCTGCAGCTGCAGAAGCTCCAGCGAGTCGGTGTGCAGGTCAATGGAAGGGTTGATGGCACACACCATGAACGCCACCTCCATCTTGCGGTCACAGCGCATGTATGATCCTTTCAGGTACAGCCAGCTCTTAGGGGGGGATGAGATCATTATGTCTCATGATGGCCCACCCTGTGCCTGCTTCAGGGAATGACAGCCAGGAAAAGGGGCTCTTCTGTCTTCCCTTCCTATGTGGGTGGTGATGGGAAGAAAGGGGTGTGGCCCAAGAAAATGGAGTCCCTTGGGTGGCTTGGGCTACTACAGTATGAAGGGGACAAGGCTGGGGGGAGGGAACAATACCCGCTCAGCCACACCGGCATTGACTGTCTGGCCCCTGCGGTCCTCGTTGCCCTTGCCGTGCCAGGTGACCTCAGCTGTCTGCTCCCCATTGGGCCCAAACACTACCCAGGCATGATCCTCAGACAGGGCGAGGTGGACATCCCGGAGACCCAGGGCCTGGCAGGCCCCAACCACAGCAAAGGCCACACCGGAGCTGTCCAATTTGGTGCCTGTGGAAGGGGGAGGTAATGAAAGAGGGTCCTCTGTGCTTTAACATGGGGAAAGGGGGCCAGGTAGTGATGGGCCACACTCCCTCCCACTCCCTTTCCAAGCCTGTGACCCAACCTCAGATTCTCCTGCCCACTATCCCTCCATCCCTTCCCTCCCACGTGTTCAAAGACTCTCTCCCTGTTTACACCCTCTATGTCCAACAAGATACCTTTCTGGA | pathogenic | 177,793 |
Chromosome 11, position 64806310, gene MEN1 (menin 1): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Multiple_endocrine_neoplasia,_type_1'] | AACATGGGCTCAGAGTTGGGGGACTAAGGGCGGAGCCTGGGTCCCCACAAGCGGTCCGAAGTCCCCAGTAGTTCAGAGGCCTTTGCGCTGCCGCTTGAGGAAAGACAGAGTGTAGTCACTAGGGGTGGACACTTTCTGCTTCTTCATCTGCACTTGCGACTGTGCCGTGAGTTGCAGCTTGATGGCGCTCGAGTTGATCTTGGTGGCCACCAGCAGCTCCTTCATGCCCTTCATCTTCTCACTCTGGAAAGTGAGCACTGGACCCTCCGGCGGTGGTGATGCTGTGGGTGCTGGCACCTGAGCCGTGCTGCCACCTTCAGGGCCTCGGGCTGTGCCAGCGACAGTCCCAGGAGGCTTCCGGGGGGGTCCTGACACTGCACCCTGGCCGGTGCCCAGGCCCTTGTCCAGTGCTGGCTTCTTGGGCGGCGGGGGCTCCTCTGGCTTGGACTCCCGCCGTGGGCCCCGCCGCCGGCCTTCCCGGGCTTCCTCGCCCCACGGCTCCTCGGCCTCGGCCGCCTCGGCCTCTCGGCTCACTATGCGCACCTTCTGCCGCACCTGGGCCAGTGGGGAGAGCAAGGTGAGAGCAAGGTTGCCGGCCAGTGGCTGGAACTCCAGGACCCTGCTCTGGCCATCCCATCCCACCCAGGGGGTCTCAGTCCCATCGGCACCCAAGGGGATGGGCAGATGCTGCCCCTGGGCCAGAAAAGTCTGACAAGCCCGTGGCTGCTGTCACCACCTGTAGTGCCCAGACCTCTGTGCAGCTGTCCCTCACCTGTCCCTCAAAACGGCCTAGGGACTGCACAAGAAAGGTGGCCCAGCCCACATGCAGCACAGGCGTGGGACTGCCCTCCTCCCATTTGCAGATGCCGTCGTAGAATCGCAGCAGGTGGGCGAAGCACTCAGGGTCCTGGAGGGCGGAACCTTGGCTCTGGGTGCCCTGGACGAGGGGGAAGGGAGGGCACAGATCAGTCTCTTACTCACCCCTTAGCAGAGGGCACAGGCCAGGCCCCCCACCTAGGCAAAGACCCCTGGCTCCAGAAAAGGTAAGCATAGGTTGGGAACATTCTTAGAACCTCTTTCCTTTTATAAAGCCAATCCATAGCCAGGACGTACCATCCCTACCTCCACCCCTCAGCTGAGGGAGGGAGTCTGGCCATGAAACTGAAGGCACAGGGTAGAAACCTCTAAAATACCTTCAGTCCCGTCCAACGTGGGCCCAGGACCTCAGTTATAGCAAAAGGGAACATAGCTGTCTGCTCAGGGCCACCTTCCTCCTGCCATCCCTAATCCCGTACATGCAGCCCCCATGGCCTGTGGAAGGGAGCCCTGTCCAGGTGGGAGGCTGGACACAGGCTGGAGCTCCAGCCTTTCACCTGGCTTTGCTCCCCCGGCCGCTCCTCGCCCGCCTCCAGCAAGCTGGCTGCCTCCTTCAGCAGGTTGGGGATGACATCATTGGCTACTTCAAAGAACTCCTTGTAGATCTCCTCGTCTTCCCGGCAGTAGTTGTAGCTGTGAGAGCAGTGGGGTCTCTGTAGGGTCTGAAGGGGTCTCACCATCGGGGGTAGCCCCAGGGACCTGGCGGGGGATGGAGCCCCCAGGGGCTGGGGGAGTAGGTGGGGTCCTCACTGCAAAATGATGCTGTCTGGGTCAGCCCAGAGGAAGAAAGCAAGAATGAGGAGGGGGGCATGGGGCCGAGGGTGGAAGTCCCACTGCTGGATGATGGTGGTTAAACATTGGAGATTTGAGACTGTTCTGAGAAAAAAAAAATTAGGAGGAGAGGGGAGGGAGGGAAAGATGTGACACCTTAATCAGGGTCCCTACCTCCTGGGTAATGGTGGCCTTGCTGCCTAGGGACTGGATGGAAAGGGGATGGGGCGTGGGAGCCAGGCCTCAGTCCTGGACGAGGGTGGTTGGAAACTGATGGAGGGGAAGAAAGGACAGGCTGCAGGCCCTAGTAGGGGGATCCTCACTCCTGGATGACAGTGGCCGTGTCCGCCCAGGCCTGCAGGGCTTCCCGCACATTGCGGTTGCGACAGTGGTAGCCAGCCAGGTACATGTAGGGGTAGATGTGTTCATCCCGATAGTAGGTCTTGGCTGAGGCAATGCCCTGGATGGAGGTGAGGCAGAGGATCCTCAGGGAGGCAGCCCCAGCTGCCCTGCTGGCACAAATGCCCCACCAGGGCACACCCAGAAGGGGCCACAGGAAGATCCCAGGGAGTCCTCTCCATCTCCACTCCCACCTCCACTCGCTGCCAGCCCTTCTACCTGGTCTCCTCCCTGGGTCTACAGGACTGCTGGCTGAGGCCTGGGGCAGACTGCAGGGGTGGGGCCTGCCCTCCGAGCTCAGGGCCCTTCTCTTTCTCAGACACTCTTCTACACATCACCAAAGACTTTCAAGCCCAGCCCAATGGCCCTCCTCCCCACCTACACCCACCAAGTGAACACCCCCTCTTCATCAGTGCTCCTGCCACATTTGACCTCTGTTATACTCCAGGAAGGACAGTAAGCAGTGGCAGAAAAGGCAGGGCTGAGGGGACAAATGCAGCCCCTGCCACTCCCAGGCTGGGGAACCCTGGACACCCCTCAGACAGCCCTGACTGAACTGATTCTGCACACAGTTGACACAAAGTGAGACTGGATGGGCGATACCCCCCAACACACAAAGTTCTCTTCTCATCTGCCCAGATGAGGGCCCCTGCCTCAGCCACTGTTAGGGTCTCCCTTCTGCACCCTCCTTAGATGCCCCCACCTTGTGGTAGAGGGTGAGTGGGTCTGGCCGGCCAGGGGTGGGCTCCAGCTCCTCTAGATCTGCCAGGTTCCCTAAGGCCATGGGGTACCTAGGAAAGGATCATAATTCAGGCTGCCACCCAGCCCCCCGGCCTCACCAGGCGCAGCCTGGCCACTTCCCTCTACTGACCTTTCCAGATGTCCCAGGTCATAGAGCAGCCAGAGCAGCTTCTAGGAGCCGAAGGAGAGAGTTATGAGCCACGGAACAGGGAGGAGAACGGGTCCTTAGCCTATCGGGCAGAGGTGGGGGTCAGAACCAACAGGGACCACCCACCATGTGGAAGGGCCAAAATTCTGGGACCAGCCCTTTAATGGAGTCAAAGCAATTTCACATCTCAATTCTACTCTCCCAAGAGCCCTGGGAAAGGCCAGGCCAGGAATTACTAACCCATTTTTCCAGGAGGGGAAGCTGAAGCTCAGGAAGGGAAAGTGCCCCTGCCCAGGGTCCCACAGCAAGTCAAGTCTGGCCTAGCCCAGTCCTGCCCCATTGGCTCAGCCCTCACCTGCTGCAGCTGCAGAAGCTCCAGCGAGTCGGTGTGCAGGTCAATGGAAGGGTTGATGGCACACACCATGAACGCCACCTCCATCTTGCGGTCACAGCGCATGTATGATCCTTTCAGGTACAGCCAGCTCTTAGGGGGGGATGAGATCATTATGTCTCATGATGGCCCACCCTGTGCCTGCTTCAGGGAATGACAGCCAGGAAAAGGGGCTCTTCTGTCTTCCCTTCCTATGTGGGTGGTGATGGGAAGAAAGGGGTGTGGCCCAAGAAAATGGAGTCCCTTGGGTGGCTTGGGCTACTACAGTATGAAGGGGACAAGGCTGGGGGGAGGGAACAATACCCGCTCAGCCACACCGGCATTGACTGTCTGGCCCCTGCGGTCCTCGTTGCCCTTGCCGTGCCAGGTGACCTCAGCTGTCTGCTCCCCATTGGGCCCAAACACTACCCAGGCATGATCCTCAGACAGGGCGAGGTGGACATCCCGGAGACCCAGGGCCTGGCAGGCCCCAACCACAGCAAAGGCCACACCGGAGCTGTCCAATTTGGTGCCTGTGGAAGGGGGAGGTAATGAAAGAGGGTCCTCTGTGCTTTAACATGGGGAAAGGGGGCCAGGTAGTGATGGGCCACACTCCCTCCCACTCCCTTTCCAAGCCTGTGACCCAACCTCAGATTCTCCTGCCCACTATCCCTCCATCCCTTCCCTCCCACGTGTTCAAAGACTCTCTCCCTGTTTACACCCTCTATGTCCAACAAGATACCTTTCTGGATATCCTGTAGCTGACCCAGCCTTTGGCCCTACCTCGTCTT | AACATGGGCTCAGAGTTGGGGGACTAAGGGCGGAGCCTGGGTCCCCACAAGCGGTCCGAAGTCCCCAGTAGTTCAGAGGCCTTTGCGCTGCCGCTTGAGGAAAGACAGAGTGTAGTCACTAGGGGTGGACACTTTCTGCTTCTTCATCTGCACTTGCGACTGTGCCGTGAGTTGCAGCTTGATGGCGCTCGAGTTGATCTTGGTGGCCACCAGCAGCTCCTTCATGCCCTTCATCTTCTCACTCTGGAAAGTGAGCACTGGACCCTCCGGCGGTGGTGATGCTGTGGGTGCTGGCACCTGAGCCGTGCTGCCACCTTCAGGGCCTCGGGCTGTGCCAGCGACAGTCCCAGGAGGCTTCCGGGGGGGTCCTGACACTGCACCCTGGCCGGTGCCCAGGCCCTTGTCCAGTGCTGGCTTCTTGGGCGGCGGGGGCTCCTCTGGCTTGGACTCCCGCCGTGGGCCCCGCCGCCGGCCTTCCCGGGCTTCCTCGCCCCACGGCTCCTCGGCCTCGGCCGCCTCGGCCTCTCGGCTCACTATGCGCACCTTCTGCCGCACCTGGGCCAGTGGGGAGAGCAAGGTGAGAGCAAGGTTGCCGGCCAGTGGCTGGAACTCCAGGACCCTGCTCTGGCCATCCCATCCCACCCAGGGGGTCTCAGTCCCATCGGCACCCAAGGGGATGGGCAGATGCTGCCCCTGGGCCAGAAAAGTCTGACAAGCCCGTGGCTGCTGTCACCACCTGTAGTGCCCAGACCTCTGTGCAGCTGTCCCTCACCTGTCCCTCAAAACGGCCTAGGGACTGCACAAGAAAGGTGGCCCAGCCCACATGCAGCACAGGCGTGGGACTGCCCTCCTCCCATTTGCAGATGCCGTCGTAGAATCGCAGCAGGTGGGCGAAGCACTCAGGGTCCTGGAGGGCGGAACCTTGGCTCTGGGTGCCCTGGACGAGGGGGAAGGGAGGGCACAGATCAGTCTCTTACTCACCCCTTAGCAGAGGGCACAGGCCAGGCCCCCCACCTAGGCAAAGACCCCTGGCTCCAGAAAAGGTAAGCATAGGTTGGGAACATTCTTAGAACCTCTTTCCTTTTATAAAGCCAATCCATAGCCAGGACGTACCATCCCTACCTCCACCCCTCAGCTGAGGGAGGGAGTCTGGCCATGAAACTGAAGGCACAGGGTAGAAACCTCTAAAATACCTTCAGTCCCGTCCAACGTGGGCCCAGGACCTCAGTTATAGCAAAAGGGAACATAGCTGTCTGCTCAGGGCCACCTTCCTCCTGCCATCCCTAATCCCGTACATGCAGCCCCCATGGCCTGTGGAAGGGAGCCCTGTCCAGGTGGGAGGCTGGACACAGGCTGGAGCTCCAGCCTTTCACCTGGCTTTGCTCCCCCGGCCGCTCCTCGCCCGCCTCCAGCAAGCTGGCTGCCTCCTTCAGCAGGTTGGGGATGACATCATTGGCTACTTCAAAGAACTCCTTGTAGATCTCCTCGTCTTCCCGGCAGTAGTTGTAGCTGTGAGAGCAGTGGGGTCTCTGTAGGGTCTGAAGGGGTCTCACCATCGGGGGTAGCCCCAGGGACCTGGCGGGGGATGGAGCCCCCAGGGGCTGGGGGAGTAGGTGGGGTCCTCACTGCAAAATGATGCTGTCTGGGTCAGCCCAGAGGAAGAAAGCAAGAATGAGGAGGGGGGCATGGGGCCGAGGGTGGAAGTCCCACTGCTGGATGATGGTGGTTAAACATTGGAGATTTGAGACTGTTCTGAGAAAAAAAAAATTAGGAGGAGAGGGGAGGGAGGGAAAGATGTGACACCTTAATCAGGGTCCCTACCTCCTGGGTAATGGTGGCCTTGCTGCCTAGGGACTGGATGGAAAGGGGATGGGGCGTGGGAGCCAGGCCTCAGTCCTGGACGAGGGTGGTTGGAAACTGATGGAGGGGAAGAAAGGACAGGCTGCAGGCCCTAGTAGGGGGATCCTCACTCCTGGATGACAGTGGCCGTGTCCGCCCAGGCCTGCAGGGCTTCCCGCACATTGCGGTTGCGACAGTGGTAGCCAGCCAGTACATGTAGGGGTAGATGTGTTCATCCCGATAGTAGGTCTTGGCTGAGGCAATGCCCTGGATGGAGGTGAGGCAGAGGATCCTCAGGGAGGCAGCCCCAGCTGCCCTGCTGGCACAAATGCCCCACCAGGGCACACCCAGAAGGGGCCACAGGAAGATCCCAGGGAGTCCTCTCCATCTCCACTCCCACCTCCACTCGCTGCCAGCCCTTCTACCTGGTCTCCTCCCTGGGTCTACAGGACTGCTGGCTGAGGCCTGGGGCAGACTGCAGGGGTGGGGCCTGCCCTCCGAGCTCAGGGCCCTTCTCTTTCTCAGACACTCTTCTACACATCACCAAAGACTTTCAAGCCCAGCCCAATGGCCCTCCTCCCCACCTACACCCACCAAGTGAACACCCCCTCTTCATCAGTGCTCCTGCCACATTTGACCTCTGTTATACTCCAGGAAGGACAGTAAGCAGTGGCAGAAAAGGCAGGGCTGAGGGGACAAATGCAGCCCCTGCCACTCCCAGGCTGGGGAACCCTGGACACCCCTCAGACAGCCCTGACTGAACTGATTCTGCACACAGTTGACACAAAGTGAGACTGGATGGGCGATACCCCCCAACACACAAAGTTCTCTTCTCATCTGCCCAGATGAGGGCCCCTGCCTCAGCCACTGTTAGGGTCTCCCTTCTGCACCCTCCTTAGATGCCCCCACCTTGTGGTAGAGGGTGAGTGGGTCTGGCCGGCCAGGGGTGGGCTCCAGCTCCTCTAGATCTGCCAGGTTCCCTAAGGCCATGGGGTACCTAGGAAAGGATCATAATTCAGGCTGCCACCCAGCCCCCCGGCCTCACCAGGCGCAGCCTGGCCACTTCCCTCTACTGACCTTTCCAGATGTCCCAGGTCATAGAGCAGCCAGAGCAGCTTCTAGGAGCCGAAGGAGAGAGTTATGAGCCACGGAACAGGGAGGAGAACGGGTCCTTAGCCTATCGGGCAGAGGTGGGGGTCAGAACCAACAGGGACCACCCACCATGTGGAAGGGCCAAAATTCTGGGACCAGCCCTTTAATGGAGTCAAAGCAATTTCACATCTCAATTCTACTCTCCCAAGAGCCCTGGGAAAGGCCAGGCCAGGAATTACTAACCCATTTTTCCAGGAGGGGAAGCTGAAGCTCAGGAAGGGAAAGTGCCCCTGCCCAGGGTCCCACAGCAAGTCAAGTCTGGCCTAGCCCAGTCCTGCCCCATTGGCTCAGCCCTCACCTGCTGCAGCTGCAGAAGCTCCAGCGAGTCGGTGTGCAGGTCAATGGAAGGGTTGATGGCACACACCATGAACGCCACCTCCATCTTGCGGTCACAGCGCATGTATGATCCTTTCAGGTACAGCCAGCTCTTAGGGGGGGATGAGATCATTATGTCTCATGATGGCCCACCCTGTGCCTGCTTCAGGGAATGACAGCCAGGAAAAGGGGCTCTTCTGTCTTCCCTTCCTATGTGGGTGGTGATGGGAAGAAAGGGGTGTGGCCCAAGAAAATGGAGTCCCTTGGGTGGCTTGGGCTACTACAGTATGAAGGGGACAAGGCTGGGGGGAGGGAACAATACCCGCTCAGCCACACCGGCATTGACTGTCTGGCCCCTGCGGTCCTCGTTGCCCTTGCCGTGCCAGGTGACCTCAGCTGTCTGCTCCCCATTGGGCCCAAACACTACCCAGGCATGATCCTCAGACAGGGCGAGGTGGACATCCCGGAGACCCAGGGCCTGGCAGGCCCCAACCACAGCAAAGGCCACACCGGAGCTGTCCAATTTGGTGCCTGTGGAAGGGGGAGGTAATGAAAGAGGGTCCTCTGTGCTTTAACATGGGGAAAGGGGGCCAGGTAGTGATGGGCCACACTCCCTCCCACTCCCTTTCCAAGCCTGTGACCCAACCTCAGATTCTCCTGCCCACTATCCCTCCATCCCTTCCCTCCCACGTGTTCAAAGACTCTCTCCCTGTTTACACCCTCTATGTCCAACAAGATACCTTTCTGGATATCCTGTAGCTGACCCAGCCTTTGGCCCTACCTCGTCTTN | pathogenic | 177,802 |
Is the genetic variant on chromosome 11, position 64806337, gene MEN1 (menin 1), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Multiple_endocrine_neoplasia,_type_1'] | GGGCGGAGCCTGGGTCCCCACAAGCGGTCCGAAGTCCCCAGTAGTTCAGAGGCCTTTGCGCTGCCGCTTGAGGAAAGACAGAGTGTAGTCACTAGGGGTGGACACTTTCTGCTTCTTCATCTGCACTTGCGACTGTGCCGTGAGTTGCAGCTTGATGGCGCTCGAGTTGATCTTGGTGGCCACCAGCAGCTCCTTCATGCCCTTCATCTTCTCACTCTGGAAAGTGAGCACTGGACCCTCCGGCGGTGGTGATGCTGTGGGTGCTGGCACCTGAGCCGTGCTGCCACCTTCAGGGCCTCGGGCTGTGCCAGCGACAGTCCCAGGAGGCTTCCGGGGGGGTCCTGACACTGCACCCTGGCCGGTGCCCAGGCCCTTGTCCAGTGCTGGCTTCTTGGGCGGCGGGGGCTCCTCTGGCTTGGACTCCCGCCGTGGGCCCCGCCGCCGGCCTTCCCGGGCTTCCTCGCCCCACGGCTCCTCGGCCTCGGCCGCCTCGGCCTCTCGGCTCACTATGCGCACCTTCTGCCGCACCTGGGCCAGTGGGGAGAGCAAGGTGAGAGCAAGGTTGCCGGCCAGTGGCTGGAACTCCAGGACCCTGCTCTGGCCATCCCATCCCACCCAGGGGGTCTCAGTCCCATCGGCACCCAAGGGGATGGGCAGATGCTGCCCCTGGGCCAGAAAAGTCTGACAAGCCCGTGGCTGCTGTCACCACCTGTAGTGCCCAGACCTCTGTGCAGCTGTCCCTCACCTGTCCCTCAAAACGGCCTAGGGACTGCACAAGAAAGGTGGCCCAGCCCACATGCAGCACAGGCGTGGGACTGCCCTCCTCCCATTTGCAGATGCCGTCGTAGAATCGCAGCAGGTGGGCGAAGCACTCAGGGTCCTGGAGGGCGGAACCTTGGCTCTGGGTGCCCTGGACGAGGGGGAAGGGAGGGCACAGATCAGTCTCTTACTCACCCCTTAGCAGAGGGCACAGGCCAGGCCCCCCACCTAGGCAAAGACCCCTGGCTCCAGAAAAGGTAAGCATAGGTTGGGAACATTCTTAGAACCTCTTTCCTTTTATAAAGCCAATCCATAGCCAGGACGTACCATCCCTACCTCCACCCCTCAGCTGAGGGAGGGAGTCTGGCCATGAAACTGAAGGCACAGGGTAGAAACCTCTAAAATACCTTCAGTCCCGTCCAACGTGGGCCCAGGACCTCAGTTATAGCAAAAGGGAACATAGCTGTCTGCTCAGGGCCACCTTCCTCCTGCCATCCCTAATCCCGTACATGCAGCCCCCATGGCCTGTGGAAGGGAGCCCTGTCCAGGTGGGAGGCTGGACACAGGCTGGAGCTCCAGCCTTTCACCTGGCTTTGCTCCCCCGGCCGCTCCTCGCCCGCCTCCAGCAAGCTGGCTGCCTCCTTCAGCAGGTTGGGGATGACATCATTGGCTACTTCAAAGAACTCCTTGTAGATCTCCTCGTCTTCCCGGCAGTAGTTGTAGCTGTGAGAGCAGTGGGGTCTCTGTAGGGTCTGAAGGGGTCTCACCATCGGGGGTAGCCCCAGGGACCTGGCGGGGGATGGAGCCCCCAGGGGCTGGGGGAGTAGGTGGGGTCCTCACTGCAAAATGATGCTGTCTGGGTCAGCCCAGAGGAAGAAAGCAAGAATGAGGAGGGGGGCATGGGGCCGAGGGTGGAAGTCCCACTGCTGGATGATGGTGGTTAAACATTGGAGATTTGAGACTGTTCTGAGAAAAAAAAAATTAGGAGGAGAGGGGAGGGAGGGAAAGATGTGACACCTTAATCAGGGTCCCTACCTCCTGGGTAATGGTGGCCTTGCTGCCTAGGGACTGGATGGAAAGGGGATGGGGCGTGGGAGCCAGGCCTCAGTCCTGGACGAGGGTGGTTGGAAACTGATGGAGGGGAAGAAAGGACAGGCTGCAGGCCCTAGTAGGGGGATCCTCACTCCTGGATGACAGTGGCCGTGTCCGCCCAGGCCTGCAGGGCTTCCCGCACATTGCGGTTGCGACAGTGGTAGCCAGCCAGGTACATGTAGGGGTAGATGTGTTCATCCCGATAGTAGGTCTTGGCTGAGGCAATGCCCTGGATGGAGGTGAGGCAGAGGATCCTCAGGGAGGCAGCCCCAGCTGCCCTGCTGGCACAAATGCCCCACCAGGGCACACCCAGAAGGGGCCACAGGAAGATCCCAGGGAGTCCTCTCCATCTCCACTCCCACCTCCACTCGCTGCCAGCCCTTCTACCTGGTCTCCTCCCTGGGTCTACAGGACTGCTGGCTGAGGCCTGGGGCAGACTGCAGGGGTGGGGCCTGCCCTCCGAGCTCAGGGCCCTTCTCTTTCTCAGACACTCTTCTACACATCACCAAAGACTTTCAAGCCCAGCCCAATGGCCCTCCTCCCCACCTACACCCACCAAGTGAACACCCCCTCTTCATCAGTGCTCCTGCCACATTTGACCTCTGTTATACTCCAGGAAGGACAGTAAGCAGTGGCAGAAAAGGCAGGGCTGAGGGGACAAATGCAGCCCCTGCCACTCCCAGGCTGGGGAACCCTGGACACCCCTCAGACAGCCCTGACTGAACTGATTCTGCACACAGTTGACACAAAGTGAGACTGGATGGGCGATACCCCCCAACACACAAAGTTCTCTTCTCATCTGCCCAGATGAGGGCCCCTGCCTCAGCCACTGTTAGGGTCTCCCTTCTGCACCCTCCTTAGATGCCCCCACCTTGTGGTAGAGGGTGAGTGGGTCTGGCCGGCCAGGGGTGGGCTCCAGCTCCTCTAGATCTGCCAGGTTCCCTAAGGCCATGGGGTACCTAGGAAAGGATCATAATTCAGGCTGCCACCCAGCCCCCCGGCCTCACCAGGCGCAGCCTGGCCACTTCCCTCTACTGACCTTTCCAGATGTCCCAGGTCATAGAGCAGCCAGAGCAGCTTCTAGGAGCCGAAGGAGAGAGTTATGAGCCACGGAACAGGGAGGAGAACGGGTCCTTAGCCTATCGGGCAGAGGTGGGGGTCAGAACCAACAGGGACCACCCACCATGTGGAAGGGCCAAAATTCTGGGACCAGCCCTTTAATGGAGTCAAAGCAATTTCACATCTCAATTCTACTCTCCCAAGAGCCCTGGGAAAGGCCAGGCCAGGAATTACTAACCCATTTTTCCAGGAGGGGAAGCTGAAGCTCAGGAAGGGAAAGTGCCCCTGCCCAGGGTCCCACAGCAAGTCAAGTCTGGCCTAGCCCAGTCCTGCCCCATTGGCTCAGCCCTCACCTGCTGCAGCTGCAGAAGCTCCAGCGAGTCGGTGTGCAGGTCAATGGAAGGGTTGATGGCACACACCATGAACGCCACCTCCATCTTGCGGTCACAGCGCATGTATGATCCTTTCAGGTACAGCCAGCTCTTAGGGGGGGATGAGATCATTATGTCTCATGATGGCCCACCCTGTGCCTGCTTCAGGGAATGACAGCCAGGAAAAGGGGCTCTTCTGTCTTCCCTTCCTATGTGGGTGGTGATGGGAAGAAAGGGGTGTGGCCCAAGAAAATGGAGTCCCTTGGGTGGCTTGGGCTACTACAGTATGAAGGGGACAAGGCTGGGGGGAGGGAACAATACCCGCTCAGCCACACCGGCATTGACTGTCTGGCCCCTGCGGTCCTCGTTGCCCTTGCCGTGCCAGGTGACCTCAGCTGTCTGCTCCCCATTGGGCCCAAACACTACCCAGGCATGATCCTCAGACAGGGCGAGGTGGACATCCCGGAGACCCAGGGCCTGGCAGGCCCCAACCACAGCAAAGGCCACACCGGAGCTGTCCAATTTGGTGCCTGTGGAAGGGGGAGGTAATGAAAGAGGGTCCTCTGTGCTTTAACATGGGGAAAGGGGGCCAGGTAGTGATGGGCCACACTCCCTCCCACTCCCTTTCCAAGCCTGTGACCCAACCTCAGATTCTCCTGCCCACTATCCCTCCATCCCTTCCCTCCCACGTGTTCAAAGACTCTCTCCCTGTTTACACCCTCTATGTCCAACAAGATACCTTTCTGGATATCCTGTAGCTGACCCAGCCTTTGGCCCTACCTCGTCTTTCTCTGCAACTCTATTATATATTCTAT | GGGCGGAGCCTGGGTCCCCACAAGCGGTCCGAAGTCCCCAGTAGTTCAGAGGCCTTTGCGCTGCCGCTTGAGGAAAGACAGAGTGTAGTCACTAGGGGTGGACACTTTCTGCTTCTTCATCTGCACTTGCGACTGTGCCGTGAGTTGCAGCTTGATGGCGCTCGAGTTGATCTTGGTGGCCACCAGCAGCTCCTTCATGCCCTTCATCTTCTCACTCTGGAAAGTGAGCACTGGACCCTCCGGCGGTGGTGATGCTGTGGGTGCTGGCACCTGAGCCGTGCTGCCACCTTCAGGGCCTCGGGCTGTGCCAGCGACAGTCCCAGGAGGCTTCCGGGGGGGTCCTGACACTGCACCCTGGCCGGTGCCCAGGCCCTTGTCCAGTGCTGGCTTCTTGGGCGGCGGGGGCTCCTCTGGCTTGGACTCCCGCCGTGGGCCCCGCCGCCGGCCTTCCCGGGCTTCCTCGCCCCACGGCTCCTCGGCCTCGGCCGCCTCGGCCTCTCGGCTCACTATGCGCACCTTCTGCCGCACCTGGGCCAGTGGGGAGAGCAAGGTGAGAGCAAGGTTGCCGGCCAGTGGCTGGAACTCCAGGACCCTGCTCTGGCCATCCCATCCCACCCAGGGGGTCTCAGTCCCATCGGCACCCAAGGGGATGGGCAGATGCTGCCCCTGGGCCAGAAAAGTCTGACAAGCCCGTGGCTGCTGTCACCACCTGTAGTGCCCAGACCTCTGTGCAGCTGTCCCTCACCTGTCCCTCAAAACGGCCTAGGGACTGCACAAGAAAGGTGGCCCAGCCCACATGCAGCACAGGCGTGGGACTGCCCTCCTCCCATTTGCAGATGCCGTCGTAGAATCGCAGCAGGTGGGCGAAGCACTCAGGGTCCTGGAGGGCGGAACCTTGGCTCTGGGTGCCCTGGACGAGGGGGAAGGGAGGGCACAGATCAGTCTCTTACTCACCCCTTAGCAGAGGGCACAGGCCAGGCCCCCCACCTAGGCAAAGACCCCTGGCTCCAGAAAAGGTAAGCATAGGTTGGGAACATTCTTAGAACCTCTTTCCTTTTATAAAGCCAATCCATAGCCAGGACGTACCATCCCTACCTCCACCCCTCAGCTGAGGGAGGGAGTCTGGCCATGAAACTGAAGGCACAGGGTAGAAACCTCTAAAATACCTTCAGTCCCGTCCAACGTGGGCCCAGGACCTCAGTTATAGCAAAAGGGAACATAGCTGTCTGCTCAGGGCCACCTTCCTCCTGCCATCCCTAATCCCGTACATGCAGCCCCCATGGCCTGTGGAAGGGAGCCCTGTCCAGGTGGGAGGCTGGACACAGGCTGGAGCTCCAGCCTTTCACCTGGCTTTGCTCCCCCGGCCGCTCCTCGCCCGCCTCCAGCAAGCTGGCTGCCTCCTTCAGCAGGTTGGGGATGACATCATTGGCTACTTCAAAGAACTCCTTGTAGATCTCCTCGTCTTCCCGGCAGTAGTTGTAGCTGTGAGAGCAGTGGGGTCTCTGTAGGGTCTGAAGGGGTCTCACCATCGGGGGTAGCCCCAGGGACCTGGCGGGGGATGGAGCCCCCAGGGGCTGGGGGAGTAGGTGGGGTCCTCACTGCAAAATGATGCTGTCTGGGTCAGCCCAGAGGAAGAAAGCAAGAATGAGGAGGGGGGCATGGGGCCGAGGGTGGAAGTCCCACTGCTGGATGATGGTGGTTAAACATTGGAGATTTGAGACTGTTCTGAGAAAAAAAAAATTAGGAGGAGAGGGGAGGGAGGGAAAGATGTGACACCTTAATCAGGGTCCCTACCTCCTGGGTAATGGTGGCCTTGCTGCCTAGGGACTGGATGGAAAGGGGATGGGGCGTGGGAGCCAGGCCTCAGTCCTGGACGAGGGTGGTTGGAAACTGATGGAGGGGAAGAAAGGACAGGCTGCAGGCCCTAGTAGGGGGATCCTCACTCCTGGATGACAGTGGCCGTGTCCGCCCAGGCCTGCAGGGCTTCCCGCACATTGCGGTTGCGACAGTGGTAGCCAGCCAGGTACATGTAGGGGTAGATGTGTTCATCCGATAGTAGGTCTTGGCTGAGGCAATGCCCTGGATGGAGGTGAGGCAGAGGATCCTCAGGGAGGCAGCCCCAGCTGCCCTGCTGGCACAAATGCCCCACCAGGGCACACCCAGAAGGGGCCACAGGAAGATCCCAGGGAGTCCTCTCCATCTCCACTCCCACCTCCACTCGCTGCCAGCCCTTCTACCTGGTCTCCTCCCTGGGTCTACAGGACTGCTGGCTGAGGCCTGGGGCAGACTGCAGGGGTGGGGCCTGCCCTCCGAGCTCAGGGCCCTTCTCTTTCTCAGACACTCTTCTACACATCACCAAAGACTTTCAAGCCCAGCCCAATGGCCCTCCTCCCCACCTACACCCACCAAGTGAACACCCCCTCTTCATCAGTGCTCCTGCCACATTTGACCTCTGTTATACTCCAGGAAGGACAGTAAGCAGTGGCAGAAAAGGCAGGGCTGAGGGGACAAATGCAGCCCCTGCCACTCCCAGGCTGGGGAACCCTGGACACCCCTCAGACAGCCCTGACTGAACTGATTCTGCACACAGTTGACACAAAGTGAGACTGGATGGGCGATACCCCCCAACACACAAAGTTCTCTTCTCATCTGCCCAGATGAGGGCCCCTGCCTCAGCCACTGTTAGGGTCTCCCTTCTGCACCCTCCTTAGATGCCCCCACCTTGTGGTAGAGGGTGAGTGGGTCTGGCCGGCCAGGGGTGGGCTCCAGCTCCTCTAGATCTGCCAGGTTCCCTAAGGCCATGGGGTACCTAGGAAAGGATCATAATTCAGGCTGCCACCCAGCCCCCCGGCCTCACCAGGCGCAGCCTGGCCACTTCCCTCTACTGACCTTTCCAGATGTCCCAGGTCATAGAGCAGCCAGAGCAGCTTCTAGGAGCCGAAGGAGAGAGTTATGAGCCACGGAACAGGGAGGAGAACGGGTCCTTAGCCTATCGGGCAGAGGTGGGGGTCAGAACCAACAGGGACCACCCACCATGTGGAAGGGCCAAAATTCTGGGACCAGCCCTTTAATGGAGTCAAAGCAATTTCACATCTCAATTCTACTCTCCCAAGAGCCCTGGGAAAGGCCAGGCCAGGAATTACTAACCCATTTTTCCAGGAGGGGAAGCTGAAGCTCAGGAAGGGAAAGTGCCCCTGCCCAGGGTCCCACAGCAAGTCAAGTCTGGCCTAGCCCAGTCCTGCCCCATTGGCTCAGCCCTCACCTGCTGCAGCTGCAGAAGCTCCAGCGAGTCGGTGTGCAGGTCAATGGAAGGGTTGATGGCACACACCATGAACGCCACCTCCATCTTGCGGTCACAGCGCATGTATGATCCTTTCAGGTACAGCCAGCTCTTAGGGGGGGATGAGATCATTATGTCTCATGATGGCCCACCCTGTGCCTGCTTCAGGGAATGACAGCCAGGAAAAGGGGCTCTTCTGTCTTCCCTTCCTATGTGGGTGGTGATGGGAAGAAAGGGGTGTGGCCCAAGAAAATGGAGTCCCTTGGGTGGCTTGGGCTACTACAGTATGAAGGGGACAAGGCTGGGGGGAGGGAACAATACCCGCTCAGCCACACCGGCATTGACTGTCTGGCCCCTGCGGTCCTCGTTGCCCTTGCCGTGCCAGGTGACCTCAGCTGTCTGCTCCCCATTGGGCCCAAACACTACCCAGGCATGATCCTCAGACAGGGCGAGGTGGACATCCCGGAGACCCAGGGCCTGGCAGGCCCCAACCACAGCAAAGGCCACACCGGAGCTGTCCAATTTGGTGCCTGTGGAAGGGGGAGGTAATGAAAGAGGGTCCTCTGTGCTTTAACATGGGGAAAGGGGGCCAGGTAGTGATGGGCCACACTCCCTCCCACTCCCTTTCCAAGCCTGTGACCCAACCTCAGATTCTCCTGCCCACTATCCCTCCATCCCTTCCCTCCCACGTGTTCAAAGACTCTCTCCCTGTTTACACCCTCTATGTCCAACAAGATACCTTTCTGGATATCCTGTAGCTGACCCAGCCTTTGGCCCTACCTCGTCTTTCTCTGCAACTCTATTATATATTCTATN | pathogenic | 177,811 |
Considering the genetic mutation at chromosome 11, position 64806382, impacting MEN1 (menin 1): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | benign | TCAGAGGCCTTTGCGCTGCCGCTTGAGGAAAGACAGAGTGTAGTCACTAGGGGTGGACACTTTCTGCTTCTTCATCTGCACTTGCGACTGTGCCGTGAGTTGCAGCTTGATGGCGCTCGAGTTGATCTTGGTGGCCACCAGCAGCTCCTTCATGCCCTTCATCTTCTCACTCTGGAAAGTGAGCACTGGACCCTCCGGCGGTGGTGATGCTGTGGGTGCTGGCACCTGAGCCGTGCTGCCACCTTCAGGGCCTCGGGCTGTGCCAGCGACAGTCCCAGGAGGCTTCCGGGGGGGTCCTGACACTGCACCCTGGCCGGTGCCCAGGCCCTTGTCCAGTGCTGGCTTCTTGGGCGGCGGGGGCTCCTCTGGCTTGGACTCCCGCCGTGGGCCCCGCCGCCGGCCTTCCCGGGCTTCCTCGCCCCACGGCTCCTCGGCCTCGGCCGCCTCGGCCTCTCGGCTCACTATGCGCACCTTCTGCCGCACCTGGGCCAGTGGGGAGAGCAAGGTGAGAGCAAGGTTGCCGGCCAGTGGCTGGAACTCCAGGACCCTGCTCTGGCCATCCCATCCCACCCAGGGGGTCTCAGTCCCATCGGCACCCAAGGGGATGGGCAGATGCTGCCCCTGGGCCAGAAAAGTCTGACAAGCCCGTGGCTGCTGTCACCACCTGTAGTGCCCAGACCTCTGTGCAGCTGTCCCTCACCTGTCCCTCAAAACGGCCTAGGGACTGCACAAGAAAGGTGGCCCAGCCCACATGCAGCACAGGCGTGGGACTGCCCTCCTCCCATTTGCAGATGCCGTCGTAGAATCGCAGCAGGTGGGCGAAGCACTCAGGGTCCTGGAGGGCGGAACCTTGGCTCTGGGTGCCCTGGACGAGGGGGAAGGGAGGGCACAGATCAGTCTCTTACTCACCCCTTAGCAGAGGGCACAGGCCAGGCCCCCCACCTAGGCAAAGACCCCTGGCTCCAGAAAAGGTAAGCATAGGTTGGGAACATTCTTAGAACCTCTTTCCTTTTATAAAGCCAATCCATAGCCAGGACGTACCATCCCTACCTCCACCCCTCAGCTGAGGGAGGGAGTCTGGCCATGAAACTGAAGGCACAGGGTAGAAACCTCTAAAATACCTTCAGTCCCGTCCAACGTGGGCCCAGGACCTCAGTTATAGCAAAAGGGAACATAGCTGTCTGCTCAGGGCCACCTTCCTCCTGCCATCCCTAATCCCGTACATGCAGCCCCCATGGCCTGTGGAAGGGAGCCCTGTCCAGGTGGGAGGCTGGACACAGGCTGGAGCTCCAGCCTTTCACCTGGCTTTGCTCCCCCGGCCGCTCCTCGCCCGCCTCCAGCAAGCTGGCTGCCTCCTTCAGCAGGTTGGGGATGACATCATTGGCTACTTCAAAGAACTCCTTGTAGATCTCCTCGTCTTCCCGGCAGTAGTTGTAGCTGTGAGAGCAGTGGGGTCTCTGTAGGGTCTGAAGGGGTCTCACCATCGGGGGTAGCCCCAGGGACCTGGCGGGGGATGGAGCCCCCAGGGGCTGGGGGAGTAGGTGGGGTCCTCACTGCAAAATGATGCTGTCTGGGTCAGCCCAGAGGAAGAAAGCAAGAATGAGGAGGGGGGCATGGGGCCGAGGGTGGAAGTCCCACTGCTGGATGATGGTGGTTAAACATTGGAGATTTGAGACTGTTCTGAGAAAAAAAAAATTAGGAGGAGAGGGGAGGGAGGGAAAGATGTGACACCTTAATCAGGGTCCCTACCTCCTGGGTAATGGTGGCCTTGCTGCCTAGGGACTGGATGGAAAGGGGATGGGGCGTGGGAGCCAGGCCTCAGTCCTGGACGAGGGTGGTTGGAAACTGATGGAGGGGAAGAAAGGACAGGCTGCAGGCCCTAGTAGGGGGATCCTCACTCCTGGATGACAGTGGCCGTGTCCGCCCAGGCCTGCAGGGCTTCCCGCACATTGCGGTTGCGACAGTGGTAGCCAGCCAGGTACATGTAGGGGTAGATGTGTTCATCCCGATAGTAGGTCTTGGCTGAGGCAATGCCCTGGATGGAGGTGAGGCAGAGGATCCTCAGGGAGGCAGCCCCAGCTGCCCTGCTGGCACAAATGCCCCACCAGGGCACACCCAGAAGGGGCCACAGGAAGATCCCAGGGAGTCCTCTCCATCTCCACTCCCACCTCCACTCGCTGCCAGCCCTTCTACCTGGTCTCCTCCCTGGGTCTACAGGACTGCTGGCTGAGGCCTGGGGCAGACTGCAGGGGTGGGGCCTGCCCTCCGAGCTCAGGGCCCTTCTCTTTCTCAGACACTCTTCTACACATCACCAAAGACTTTCAAGCCCAGCCCAATGGCCCTCCTCCCCACCTACACCCACCAAGTGAACACCCCCTCTTCATCAGTGCTCCTGCCACATTTGACCTCTGTTATACTCCAGGAAGGACAGTAAGCAGTGGCAGAAAAGGCAGGGCTGAGGGGACAAATGCAGCCCCTGCCACTCCCAGGCTGGGGAACCCTGGACACCCCTCAGACAGCCCTGACTGAACTGATTCTGCACACAGTTGACACAAAGTGAGACTGGATGGGCGATACCCCCCAACACACAAAGTTCTCTTCTCATCTGCCCAGATGAGGGCCCCTGCCTCAGCCACTGTTAGGGTCTCCCTTCTGCACCCTCCTTAGATGCCCCCACCTTGTGGTAGAGGGTGAGTGGGTCTGGCCGGCCAGGGGTGGGCTCCAGCTCCTCTAGATCTGCCAGGTTCCCTAAGGCCATGGGGTACCTAGGAAAGGATCATAATTCAGGCTGCCACCCAGCCCCCCGGCCTCACCAGGCGCAGCCTGGCCACTTCCCTCTACTGACCTTTCCAGATGTCCCAGGTCATAGAGCAGCCAGAGCAGCTTCTAGGAGCCGAAGGAGAGAGTTATGAGCCACGGAACAGGGAGGAGAACGGGTCCTTAGCCTATCGGGCAGAGGTGGGGGTCAGAACCAACAGGGACCACCCACCATGTGGAAGGGCCAAAATTCTGGGACCAGCCCTTTAATGGAGTCAAAGCAATTTCACATCTCAATTCTACTCTCCCAAGAGCCCTGGGAAAGGCCAGGCCAGGAATTACTAACCCATTTTTCCAGGAGGGGAAGCTGAAGCTCAGGAAGGGAAAGTGCCCCTGCCCAGGGTCCCACAGCAAGTCAAGTCTGGCCTAGCCCAGTCCTGCCCCATTGGCTCAGCCCTCACCTGCTGCAGCTGCAGAAGCTCCAGCGAGTCGGTGTGCAGGTCAATGGAAGGGTTGATGGCACACACCATGAACGCCACCTCCATCTTGCGGTCACAGCGCATGTATGATCCTTTCAGGTACAGCCAGCTCTTAGGGGGGGATGAGATCATTATGTCTCATGATGGCCCACCCTGTGCCTGCTTCAGGGAATGACAGCCAGGAAAAGGGGCTCTTCTGTCTTCCCTTCCTATGTGGGTGGTGATGGGAAGAAAGGGGTGTGGCCCAAGAAAATGGAGTCCCTTGGGTGGCTTGGGCTACTACAGTATGAAGGGGACAAGGCTGGGGGGAGGGAACAATACCCGCTCAGCCACACCGGCATTGACTGTCTGGCCCCTGCGGTCCTCGTTGCCCTTGCCGTGCCAGGTGACCTCAGCTGTCTGCTCCCCATTGGGCCCAAACACTACCCAGGCATGATCCTCAGACAGGGCGAGGTGGACATCCCGGAGACCCAGGGCCTGGCAGGCCCCAACCACAGCAAAGGCCACACCGGAGCTGTCCAATTTGGTGCCTGTGGAAGGGGGAGGTAATGAAAGAGGGTCCTCTGTGCTTTAACATGGGGAAAGGGGGCCAGGTAGTGATGGGCCACACTCCCTCCCACTCCCTTTCCAAGCCTGTGACCCAACCTCAGATTCTCCTGCCCACTATCCCTCCATCCCTTCCCTCCCACGTGTTCAAAGACTCTCTCCCTGTTTACACCCTCTATGTCCAACAAGATACCTTTCTGGATATCCTGTAGCTGACCCAGCCTTTGGCCCTACCTCGTCTTTCTCTGCAACTCTATTATATATTCTATGGATTTAGGGATTCCATTTTACTGCACTTACTAGGTTAAAACAGG | TCAGAGGCCTTTGCGCTGCCGCTTGAGGAAAGACAGAGTGTAGTCACTAGGGGTGGACACTTTCTGCTTCTTCATCTGCACTTGCGACTGTGCCGTGAGTTGCAGCTTGATGGCGCTCGAGTTGATCTTGGTGGCCACCAGCAGCTCCTTCATGCCCTTCATCTTCTCACTCTGGAAAGTGAGCACTGGACCCTCCGGCGGTGGTGATGCTGTGGGTGCTGGCACCTGAGCCGTGCTGCCACCTTCAGGGCCTCGGGCTGTGCCAGCGACAGTCCCAGGAGGCTTCCGGGGGGGTCCTGACACTGCACCCTGGCCGGTGCCCAGGCCCTTGTCCAGTGCTGGCTTCTTGGGCGGCGGGGGCTCCTCTGGCTTGGACTCCCGCCGTGGGCCCCGCCGCCGGCCTTCCCGGGCTTCCTCGCCCCACGGCTCCTCGGCCTCGGCCGCCTCGGCCTCTCGGCTCACTATGCGCACCTTCTGCCGCACCTGGGCCAGTGGGGAGAGCAAGGTGAGAGCAAGGTTGCCGGCCAGTGGCTGGAACTCCAGGACCCTGCTCTGGCCATCCCATCCCACCCAGGGGGTCTCAGTCCCATCGGCACCCAAGGGGATGGGCAGATGCTGCCCCTGGGCCAGAAAAGTCTGACAAGCCCGTGGCTGCTGTCACCACCTGTAGTGCCCAGACCTCTGTGCAGCTGTCCCTCACCTGTCCCTCAAAACGGCCTAGGGACTGCACAAGAAAGGTGGCCCAGCCCACATGCAGCACAGGCGTGGGACTGCCCTCCTCCCATTTGCAGATGCCGTCGTAGAATCGCAGCAGGTGGGCGAAGCACTCAGGGTCCTGGAGGGCGGAACCTTGGCTCTGGGTGCCCTGGACGAGGGGGAAGGGAGGGCACAGATCAGTCTCTTACTCACCCCTTAGCAGAGGGCACAGGCCAGGCCCCCCACCTAGGCAAAGACCCCTGGCTCCAGAAAAGGTAAGCATAGGTTGGGAACATTCTTAGAACCTCTTTCCTTTTATAAAGCCAATCCATAGCCAGGACGTACCATCCCTACCTCCACCCCTCAGCTGAGGGAGGGAGTCTGGCCATGAAACTGAAGGCACAGGGTAGAAACCTCTAAAATACCTTCAGTCCCGTCCAACGTGGGCCCAGGACCTCAGTTATAGCAAAAGGGAACATAGCTGTCTGCTCAGGGCCACCTTCCTCCTGCCATCCCTAATCCCGTACATGCAGCCCCCATGGCCTGTGGAAGGGAGCCCTGTCCAGGTGGGAGGCTGGACACAGGCTGGAGCTCCAGCCTTTCACCTGGCTTTGCTCCCCCGGCCGCTCCTCGCCCGCCTCCAGCAAGCTGGCTGCCTCCTTCAGCAGGTTGGGGATGACATCATTGGCTACTTCAAAGAACTCCTTGTAGATCTCCTCGTCTTCCCGGCAGTAGTTGTAGCTGTGAGAGCAGTGGGGTCTCTGTAGGGTCTGAAGGGGTCTCACCATCGGGGGTAGCCCCAGGGACCTGGCGGGGGATGGAGCCCCCAGGGGCTGGGGGAGTAGGTGGGGTCCTCACTGCAAAATGATGCTGTCTGGGTCAGCCCAGAGGAAGAAAGCAAGAATGAGGAGGGGGGCATGGGGCCGAGGGTGGAAGTCCCACTGCTGGATGATGGTGGTTAAACATTGGAGATTTGAGACTGTTCTGAGAAAAAAAAAATTAGGAGGAGAGGGGAGGGAGGGAAAGATGTGACACCTTAATCAGGGTCCCTACCTCCTGGGTAATGGTGGCCTTGCTGCCTAGGGACTGGATGGAAAGGGGATGGGGCGTGGGAGCCAGGCCTCAGTCCTGGACGAGGGTGGTTGGAAACTGATGGAGGGGAAGAAAGGACAGGCTGCAGGCCCTAGTAGGGGGATCCTCACTCCTGGATGACAGTGGCCGTGTCCGCCCAGGCCTGCAGGGCTTCCCGCACATTGCGGTTGCGACAGTGGTAGCCAGCCAGGTACATGTAGGGGTAGATGTGTTCATCCCGATAGTAGGTCTTGGCTGAGGCAATGCCCTGGATGGAGGTGAGCAGAGGATCCTCAGGGAGGCAGCCCCAGCTGCCCTGCTGGCACAAATGCCCCACCAGGGCACACCCAGAAGGGGCCACAGGAAGATCCCAGGGAGTCCTCTCCATCTCCACTCCCACCTCCACTCGCTGCCAGCCCTTCTACCTGGTCTCCTCCCTGGGTCTACAGGACTGCTGGCTGAGGCCTGGGGCAGACTGCAGGGGTGGGGCCTGCCCTCCGAGCTCAGGGCCCTTCTCTTTCTCAGACACTCTTCTACACATCACCAAAGACTTTCAAGCCCAGCCCAATGGCCCTCCTCCCCACCTACACCCACCAAGTGAACACCCCCTCTTCATCAGTGCTCCTGCCACATTTGACCTCTGTTATACTCCAGGAAGGACAGTAAGCAGTGGCAGAAAAGGCAGGGCTGAGGGGACAAATGCAGCCCCTGCCACTCCCAGGCTGGGGAACCCTGGACACCCCTCAGACAGCCCTGACTGAACTGATTCTGCACACAGTTGACACAAAGTGAGACTGGATGGGCGATACCCCCCAACACACAAAGTTCTCTTCTCATCTGCCCAGATGAGGGCCCCTGCCTCAGCCACTGTTAGGGTCTCCCTTCTGCACCCTCCTTAGATGCCCCCACCTTGTGGTAGAGGGTGAGTGGGTCTGGCCGGCCAGGGGTGGGCTCCAGCTCCTCTAGATCTGCCAGGTTCCCTAAGGCCATGGGGTACCTAGGAAAGGATCATAATTCAGGCTGCCACCCAGCCCCCCGGCCTCACCAGGCGCAGCCTGGCCACTTCCCTCTACTGACCTTTCCAGATGTCCCAGGTCATAGAGCAGCCAGAGCAGCTTCTAGGAGCCGAAGGAGAGAGTTATGAGCCACGGAACAGGGAGGAGAACGGGTCCTTAGCCTATCGGGCAGAGGTGGGGGTCAGAACCAACAGGGACCACCCACCATGTGGAAGGGCCAAAATTCTGGGACCAGCCCTTTAATGGAGTCAAAGCAATTTCACATCTCAATTCTACTCTCCCAAGAGCCCTGGGAAAGGCCAGGCCAGGAATTACTAACCCATTTTTCCAGGAGGGGAAGCTGAAGCTCAGGAAGGGAAAGTGCCCCTGCCCAGGGTCCCACAGCAAGTCAAGTCTGGCCTAGCCCAGTCCTGCCCCATTGGCTCAGCCCTCACCTGCTGCAGCTGCAGAAGCTCCAGCGAGTCGGTGTGCAGGTCAATGGAAGGGTTGATGGCACACACCATGAACGCCACCTCCATCTTGCGGTCACAGCGCATGTATGATCCTTTCAGGTACAGCCAGCTCTTAGGGGGGGATGAGATCATTATGTCTCATGATGGCCCACCCTGTGCCTGCTTCAGGGAATGACAGCCAGGAAAAGGGGCTCTTCTGTCTTCCCTTCCTATGTGGGTGGTGATGGGAAGAAAGGGGTGTGGCCCAAGAAAATGGAGTCCCTTGGGTGGCTTGGGCTACTACAGTATGAAGGGGACAAGGCTGGGGGGAGGGAACAATACCCGCTCAGCCACACCGGCATTGACTGTCTGGCCCCTGCGGTCCTCGTTGCCCTTGCCGTGCCAGGTGACCTCAGCTGTCTGCTCCCCATTGGGCCCAAACACTACCCAGGCATGATCCTCAGACAGGGCGAGGTGGACATCCCGGAGACCCAGGGCCTGGCAGGCCCCAACCACAGCAAAGGCCACACCGGAGCTGTCCAATTTGGTGCCTGTGGAAGGGGGAGGTAATGAAAGAGGGTCCTCTGTGCTTTAACATGGGGAAAGGGGGCCAGGTAGTGATGGGCCACACTCCCTCCCACTCCCTTTCCAAGCCTGTGACCCAACCTCAGATTCTCCTGCCCACTATCCCTCCATCCCTTCCCTCCCACGTGTTCAAAGACTCTCTCCCTGTTTACACCCTCTATGTCCAACAAGATACCTTTCTGGATATCCTGTAGCTGACCCAGCCTTTGGCCCTACCTCGTCTTTCTCTGCAACTCTATTATATATTCTATGGATTTAGGGATTCCATTTTACTGCACTTACTAGGTTAAAACAGGN | benign | 177,832 |
Evaluate the clinical significance of the mutation at chromosome 11, position 64807108 in gene MEN1 (menin 1): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | benign | GCACAAGAAAGGTGGCCCAGCCCACATGCAGCACAGGCGTGGGACTGCCCTCCTCCCATTTGCAGATGCCGTCGTAGAATCGCAGCAGGTGGGCGAAGCACTCAGGGTCCTGGAGGGCGGAACCTTGGCTCTGGGTGCCCTGGACGAGGGGGAAGGGAGGGCACAGATCAGTCTCTTACTCACCCCTTAGCAGAGGGCACAGGCCAGGCCCCCCACCTAGGCAAAGACCCCTGGCTCCAGAAAAGGTAAGCATAGGTTGGGAACATTCTTAGAACCTCTTTCCTTTTATAAAGCCAATCCATAGCCAGGACGTACCATCCCTACCTCCACCCCTCAGCTGAGGGAGGGAGTCTGGCCATGAAACTGAAGGCACAGGGTAGAAACCTCTAAAATACCTTCAGTCCCGTCCAACGTGGGCCCAGGACCTCAGTTATAGCAAAAGGGAACATAGCTGTCTGCTCAGGGCCACCTTCCTCCTGCCATCCCTAATCCCGTACATGCAGCCCCCATGGCCTGTGGAAGGGAGCCCTGTCCAGGTGGGAGGCTGGACACAGGCTGGAGCTCCAGCCTTTCACCTGGCTTTGCTCCCCCGGCCGCTCCTCGCCCGCCTCCAGCAAGCTGGCTGCCTCCTTCAGCAGGTTGGGGATGACATCATTGGCTACTTCAAAGAACTCCTTGTAGATCTCCTCGTCTTCCCGGCAGTAGTTGTAGCTGTGAGAGCAGTGGGGTCTCTGTAGGGTCTGAAGGGGTCTCACCATCGGGGGTAGCCCCAGGGACCTGGCGGGGGATGGAGCCCCCAGGGGCTGGGGGAGTAGGTGGGGTCCTCACTGCAAAATGATGCTGTCTGGGTCAGCCCAGAGGAAGAAAGCAAGAATGAGGAGGGGGGCATGGGGCCGAGGGTGGAAGTCCCACTGCTGGATGATGGTGGTTAAACATTGGAGATTTGAGACTGTTCTGAGAAAAAAAAAATTAGGAGGAGAGGGGAGGGAGGGAAAGATGTGACACCTTAATCAGGGTCCCTACCTCCTGGGTAATGGTGGCCTTGCTGCCTAGGGACTGGATGGAAAGGGGATGGGGCGTGGGAGCCAGGCCTCAGTCCTGGACGAGGGTGGTTGGAAACTGATGGAGGGGAAGAAAGGACAGGCTGCAGGCCCTAGTAGGGGGATCCTCACTCCTGGATGACAGTGGCCGTGTCCGCCCAGGCCTGCAGGGCTTCCCGCACATTGCGGTTGCGACAGTGGTAGCCAGCCAGGTACATGTAGGGGTAGATGTGTTCATCCCGATAGTAGGTCTTGGCTGAGGCAATGCCCTGGATGGAGGTGAGGCAGAGGATCCTCAGGGAGGCAGCCCCAGCTGCCCTGCTGGCACAAATGCCCCACCAGGGCACACCCAGAAGGGGCCACAGGAAGATCCCAGGGAGTCCTCTCCATCTCCACTCCCACCTCCACTCGCTGCCAGCCCTTCTACCTGGTCTCCTCCCTGGGTCTACAGGACTGCTGGCTGAGGCCTGGGGCAGACTGCAGGGGTGGGGCCTGCCCTCCGAGCTCAGGGCCCTTCTCTTTCTCAGACACTCTTCTACACATCACCAAAGACTTTCAAGCCCAGCCCAATGGCCCTCCTCCCCACCTACACCCACCAAGTGAACACCCCCTCTTCATCAGTGCTCCTGCCACATTTGACCTCTGTTATACTCCAGGAAGGACAGTAAGCAGTGGCAGAAAAGGCAGGGCTGAGGGGACAAATGCAGCCCCTGCCACTCCCAGGCTGGGGAACCCTGGACACCCCTCAGACAGCCCTGACTGAACTGATTCTGCACACAGTTGACACAAAGTGAGACTGGATGGGCGATACCCCCCAACACACAAAGTTCTCTTCTCATCTGCCCAGATGAGGGCCCCTGCCTCAGCCACTGTTAGGGTCTCCCTTCTGCACCCTCCTTAGATGCCCCCACCTTGTGGTAGAGGGTGAGTGGGTCTGGCCGGCCAGGGGTGGGCTCCAGCTCCTCTAGATCTGCCAGGTTCCCTAAGGCCATGGGGTACCTAGGAAAGGATCATAATTCAGGCTGCCACCCAGCCCCCCGGCCTCACCAGGCGCAGCCTGGCCACTTCCCTCTACTGACCTTTCCAGATGTCCCAGGTCATAGAGCAGCCAGAGCAGCTTCTAGGAGCCGAAGGAGAGAGTTATGAGCCACGGAACAGGGAGGAGAACGGGTCCTTAGCCTATCGGGCAGAGGTGGGGGTCAGAACCAACAGGGACCACCCACCATGTGGAAGGGCCAAAATTCTGGGACCAGCCCTTTAATGGAGTCAAAGCAATTTCACATCTCAATTCTACTCTCCCAAGAGCCCTGGGAAAGGCCAGGCCAGGAATTACTAACCCATTTTTCCAGGAGGGGAAGCTGAAGCTCAGGAAGGGAAAGTGCCCCTGCCCAGGGTCCCACAGCAAGTCAAGTCTGGCCTAGCCCAGTCCTGCCCCATTGGCTCAGCCCTCACCTGCTGCAGCTGCAGAAGCTCCAGCGAGTCGGTGTGCAGGTCAATGGAAGGGTTGATGGCACACACCATGAACGCCACCTCCATCTTGCGGTCACAGCGCATGTATGATCCTTTCAGGTACAGCCAGCTCTTAGGGGGGGATGAGATCATTATGTCTCATGATGGCCCACCCTGTGCCTGCTTCAGGGAATGACAGCCAGGAAAAGGGGCTCTTCTGTCTTCCCTTCCTATGTGGGTGGTGATGGGAAGAAAGGGGTGTGGCCCAAGAAAATGGAGTCCCTTGGGTGGCTTGGGCTACTACAGTATGAAGGGGACAAGGCTGGGGGGAGGGAACAATACCCGCTCAGCCACACCGGCATTGACTGTCTGGCCCCTGCGGTCCTCGTTGCCCTTGCCGTGCCAGGTGACCTCAGCTGTCTGCTCCCCATTGGGCCCAAACACTACCCAGGCATGATCCTCAGACAGGGCGAGGTGGACATCCCGGAGACCCAGGGCCTGGCAGGCCCCAACCACAGCAAAGGCCACACCGGAGCTGTCCAATTTGGTGCCTGTGGAAGGGGGAGGTAATGAAAGAGGGTCCTCTGTGCTTTAACATGGGGAAAGGGGGCCAGGTAGTGATGGGCCACACTCCCTCCCACTCCCTTTCCAAGCCTGTGACCCAACCTCAGATTCTCCTGCCCACTATCCCTCCATCCCTTCCCTCCCACGTGTTCAAAGACTCTCTCCCTGTTTACACCCTCTATGTCCAACAAGATACCTTTCTGGATATCCTGTAGCTGACCCAGCCTTTGGCCCTACCTCGTCTTTCTCTGCAACTCTATTATATATTCTATGGATTTAGGGATTCCATTTTACTGCACTTACTAGGTTAAAACAGGAATGGCAAAAACAGGACGCTGGCCAACACTCTCTGGCTATACACCCACCAACAAATAACCCTCATTTATCTCTGCACTCTTTTCCTGCTAAGCTGAGAAGCAGCCTCTGATTCCTTCTCAATATGGCACACCAGGATGGGATTGCCAGTCAACCGGGCTTGGTGCAAAGCTCTTTGCAAGCCCTGACTCTTAAGCCTTTTGAGGTCAAGCCCCTTCTCTGTCTCAAACATTTTTGACCAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCTCGTCTCTACTAAAAATCCAAAAAAAAATTAGCCAGGCATGGTGGCAGGCTCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGGCAGGAGAATGGCATGAAAGCAGGAGGCAGAGCTTGCAGTGAGCCGAGATTGCACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACGCCGTCTGAAAAAAAAAAAAAAATTTTCATAGGCCACCAGTTGCGGTGGCTCACACCTGTAATCCCAGCATTTGGGAGACTGAGGCGGGCAGATCACTTGAGCCCAAGAGTTCAAGACCAGTCTGGGCCACATAGTGAGACACCATCTCTACAAAAAAAATACAAAAAATTAACCAGCACCACGGTGCATGCCTGTACTCTCAGCTACT | GCACAAGAAAGGTGGCCCAGCCCACATGCAGCACAGGCGTGGGACTGCCCTCCTCCCATTTGCAGATGCCGTCGTAGAATCGCAGCAGGTGGGCGAAGCACTCAGGGTCCTGGAGGGCGGAACCTTGGCTCTGGGTGCCCTGGACGAGGGGGAAGGGAGGGCACAGATCAGTCTCTTACTCACCCCTTAGCAGAGGGCACAGGCCAGGCCCCCCACCTAGGCAAAGACCCCTGGCTCCAGAAAAGGTAAGCATAGGTTGGGAACATTCTTAGAACCTCTTTCCTTTTATAAAGCCAATCCATAGCCAGGACGTACCATCCCTACCTCCACCCCTCAGCTGAGGGAGGGAGTCTGGCCATGAAACTGAAGGCACAGGGTAGAAACCTCTAAAATACCTTCAGTCCCGTCCAACGTGGGCCCAGGACCTCAGTTATAGCAAAAGGGAACATAGCTGTCTGCTCAGGGCCACCTTCCTCCTGCCATCCCTAATCCCGTACATGCAGCCCCCATGGCCTGTGGAAGGGAGCCCTGTCCAGGTGGGAGGCTGGACACAGGCTGGAGCTCCAGCCTTTCACCTGGCTTTGCTCCCCCGGCCGCTCCTCGCCCGCCTCCAGCAAGCTGGCTGCCTCCTTCAGCAGGTTGGGGATGACATCATTGGCTACTTCAAAGAACTCCTTGTAGATCTCCTCGTCTTCCCGGCAGTAGTTGTAGCTGTGAGAGCAGTGGGGTCTCTGTAGGGTCTGAAGGGGTCTCACCATCGGGGGTAGCCCCAGGGACCTGGCGGGGGATGGAGCCCCCAGGGGCTGGGGGAGTAGGTGGGGTCCTCACTGCAAAATGATGCTGTCTGGGTCAGCCCAGAGGAAGAAAGCAAGAATGAGGAGGGGGGCATGGGGCCGAGGGTGGAAGTCCCACTGCTGGATGATGGTGGTTAAACATTGGAGATTTGAGACTGTTCTGAGAAAAAAAAAATTAGGAGGAGAGGGGAGGGAGGGAAAGATGTGACACCTTAATCAGGGTCCCTACCTCCTGGGTAATGGTGGCCTTGCTGCCTAGGGACTGGATGGAAAGGGGATGGGGCGTGGGAGCCAGGCCTCAGTCCTGGACGAGGGTGGTTGGAAACTGATGGAGGGGAAGAAAGGACAGGCTGCAGGCCCTAGTAGGGGGATCCTCACTCCTGGATGACAGTGGCCGTGTCCGCCCAGGCCTGCAGGGCTTCCCGCACATTGCGGTTGCGACAGTGGTAGCCAGCCAGGTACATGTAGGGGTAGATGTGTTCATCCCGATAGTAGGTCTTGGCTGAGGCAATGCCCTGGATGGAGGTGAGGCAGAGGATCCTCAGGGAGGCAGCCCCAGCTGCCCTGCTGGCACAAATGCCCCACCAGGGCACACCCAGAAGGGGCCACAGGAAGATCCCAGGGAGTCCTCTCCATCTCCACTCCCACCTCCACTCGCTGCCAGCCCTTCTACCTGGTCTCCTCCCTGGGTCTACAGGACTGCTGGCTGAGGCCTGGGGCAGACTGCAGGGGTGGGGCCTGCCCTCCGAGCTCAGGGCCCTTCTCTTTCTCAGACACTCTTCTACACATCACCAAAGACTTTCAAGCCCAGCCCAATGGCCCTCCTCCCCACCTACACCCACCAAGTGAACACCCCCTCTTCATCAGTGCTCCTGCCACATTTGACCTCTGTTATACTCCAGGAAGGACAGTAAGCAGTGGCAGAAAAGGCAGGGCTGAGGGGACAAATGCAGCCCCTGCCACTCCCAGGCTGGGGAACCCTGGACACCCCTCAGACAGCCCTGACTGAACTGATTCTGCACACAGTTGACACAAAGTGAGACTGGATGGGCGATACCCCCCAACACACAAAGTTCTCTTCTCATCTGCCCAGATGAGGGCCCCTGCCTCAGCCACTGTTAGGGTCTCCCTTCTGCACCCTCCTTAGATGCCCCCACCTTGTGGTAGAGGGTGAGTGGGTCTGGCCGGCCAGGGGTGGGCTCCAGCTCCTCTAGATCTGCCAGGTTCCCTAAGGCCATGGGGTACCTAGGAAAGGATAATTCAGGCTGCCACCCAGCCCCCCGGCCTCACCAGGCGCAGCCTGGCCACTTCCCTCTACTGACCTTTCCAGATGTCCCAGGTCATAGAGCAGCCAGAGCAGCTTCTAGGAGCCGAAGGAGAGAGTTATGAGCCACGGAACAGGGAGGAGAACGGGTCCTTAGCCTATCGGGCAGAGGTGGGGGTCAGAACCAACAGGGACCACCCACCATGTGGAAGGGCCAAAATTCTGGGACCAGCCCTTTAATGGAGTCAAAGCAATTTCACATCTCAATTCTACTCTCCCAAGAGCCCTGGGAAAGGCCAGGCCAGGAATTACTAACCCATTTTTCCAGGAGGGGAAGCTGAAGCTCAGGAAGGGAAAGTGCCCCTGCCCAGGGTCCCACAGCAAGTCAAGTCTGGCCTAGCCCAGTCCTGCCCCATTGGCTCAGCCCTCACCTGCTGCAGCTGCAGAAGCTCCAGCGAGTCGGTGTGCAGGTCAATGGAAGGGTTGATGGCACACACCATGAACGCCACCTCCATCTTGCGGTCACAGCGCATGTATGATCCTTTCAGGTACAGCCAGCTCTTAGGGGGGGATGAGATCATTATGTCTCATGATGGCCCACCCTGTGCCTGCTTCAGGGAATGACAGCCAGGAAAAGGGGCTCTTCTGTCTTCCCTTCCTATGTGGGTGGTGATGGGAAGAAAGGGGTGTGGCCCAAGAAAATGGAGTCCCTTGGGTGGCTTGGGCTACTACAGTATGAAGGGGACAAGGCTGGGGGGAGGGAACAATACCCGCTCAGCCACACCGGCATTGACTGTCTGGCCCCTGCGGTCCTCGTTGCCCTTGCCGTGCCAGGTGACCTCAGCTGTCTGCTCCCCATTGGGCCCAAACACTACCCAGGCATGATCCTCAGACAGGGCGAGGTGGACATCCCGGAGACCCAGGGCCTGGCAGGCCCCAACCACAGCAAAGGCCACACCGGAGCTGTCCAATTTGGTGCCTGTGGAAGGGGGAGGTAATGAAAGAGGGTCCTCTGTGCTTTAACATGGGGAAAGGGGGCCAGGTAGTGATGGGCCACACTCCCTCCCACTCCCTTTCCAAGCCTGTGACCCAACCTCAGATTCTCCTGCCCACTATCCCTCCATCCCTTCCCTCCCACGTGTTCAAAGACTCTCTCCCTGTTTACACCCTCTATGTCCAACAAGATACCTTTCTGGATATCCTGTAGCTGACCCAGCCTTTGGCCCTACCTCGTCTTTCTCTGCAACTCTATTATATATTCTATGGATTTAGGGATTCCATTTTACTGCACTTACTAGGTTAAAACAGGAATGGCAAAAACAGGACGCTGGCCAACACTCTCTGGCTATACACCCACCAACAAATAACCCTCATTTATCTCTGCACTCTTTTCCTGCTAAGCTGAGAAGCAGCCTCTGATTCCTTCTCAATATGGCACACCAGGATGGGATTGCCAGTCAACCGGGCTTGGTGCAAAGCTCTTTGCAAGCCCTGACTCTTAAGCCTTTTGAGGTCAAGCCCCTTCTCTGTCTCAAACATTTTTGACCAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCTCGTCTCTACTAAAAATCCAAAAAAAAATTAGCCAGGCATGGTGGCAGGCTCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGGCAGGAGAATGGCATGAAAGCAGGAGGCAGAGCTTGCAGTGAGCCGAGATTGCACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACGCCGTCTGAAAAAAAAAAAAAAATTTTCATAGGCCACCAGTTGCGGTGGCTCACACCTGTAATCCCAGCATTTGGGAGACTGAGGCGGGCAGATCACTTGAGCCCAAGAGTTCAAGACCAGTCTGGGCCACATAGTGAGACACCATCTCTACAAAAAAAATACAAAAAATTAACCAGCACCACGGTGCATGCCTGTACTCTCAGCTACTNNN | benign | 177,862 |
Variant at chromosome position 64807179, chromosome 11, gene MEN1 (menin 1): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Multiple_endocrine_neoplasia,_type_1'] | TCGTAGAATCGCAGCAGGTGGGCGAAGCACTCAGGGTCCTGGAGGGCGGAACCTTGGCTCTGGGTGCCCTGGACGAGGGGGAAGGGAGGGCACAGATCAGTCTCTTACTCACCCCTTAGCAGAGGGCACAGGCCAGGCCCCCCACCTAGGCAAAGACCCCTGGCTCCAGAAAAGGTAAGCATAGGTTGGGAACATTCTTAGAACCTCTTTCCTTTTATAAAGCCAATCCATAGCCAGGACGTACCATCCCTACCTCCACCCCTCAGCTGAGGGAGGGAGTCTGGCCATGAAACTGAAGGCACAGGGTAGAAACCTCTAAAATACCTTCAGTCCCGTCCAACGTGGGCCCAGGACCTCAGTTATAGCAAAAGGGAACATAGCTGTCTGCTCAGGGCCACCTTCCTCCTGCCATCCCTAATCCCGTACATGCAGCCCCCATGGCCTGTGGAAGGGAGCCCTGTCCAGGTGGGAGGCTGGACACAGGCTGGAGCTCCAGCCTTTCACCTGGCTTTGCTCCCCCGGCCGCTCCTCGCCCGCCTCCAGCAAGCTGGCTGCCTCCTTCAGCAGGTTGGGGATGACATCATTGGCTACTTCAAAGAACTCCTTGTAGATCTCCTCGTCTTCCCGGCAGTAGTTGTAGCTGTGAGAGCAGTGGGGTCTCTGTAGGGTCTGAAGGGGTCTCACCATCGGGGGTAGCCCCAGGGACCTGGCGGGGGATGGAGCCCCCAGGGGCTGGGGGAGTAGGTGGGGTCCTCACTGCAAAATGATGCTGTCTGGGTCAGCCCAGAGGAAGAAAGCAAGAATGAGGAGGGGGGCATGGGGCCGAGGGTGGAAGTCCCACTGCTGGATGATGGTGGTTAAACATTGGAGATTTGAGACTGTTCTGAGAAAAAAAAAATTAGGAGGAGAGGGGAGGGAGGGAAAGATGTGACACCTTAATCAGGGTCCCTACCTCCTGGGTAATGGTGGCCTTGCTGCCTAGGGACTGGATGGAAAGGGGATGGGGCGTGGGAGCCAGGCCTCAGTCCTGGACGAGGGTGGTTGGAAACTGATGGAGGGGAAGAAAGGACAGGCTGCAGGCCCTAGTAGGGGGATCCTCACTCCTGGATGACAGTGGCCGTGTCCGCCCAGGCCTGCAGGGCTTCCCGCACATTGCGGTTGCGACAGTGGTAGCCAGCCAGGTACATGTAGGGGTAGATGTGTTCATCCCGATAGTAGGTCTTGGCTGAGGCAATGCCCTGGATGGAGGTGAGGCAGAGGATCCTCAGGGAGGCAGCCCCAGCTGCCCTGCTGGCACAAATGCCCCACCAGGGCACACCCAGAAGGGGCCACAGGAAGATCCCAGGGAGTCCTCTCCATCTCCACTCCCACCTCCACTCGCTGCCAGCCCTTCTACCTGGTCTCCTCCCTGGGTCTACAGGACTGCTGGCTGAGGCCTGGGGCAGACTGCAGGGGTGGGGCCTGCCCTCCGAGCTCAGGGCCCTTCTCTTTCTCAGACACTCTTCTACACATCACCAAAGACTTTCAAGCCCAGCCCAATGGCCCTCCTCCCCACCTACACCCACCAAGTGAACACCCCCTCTTCATCAGTGCTCCTGCCACATTTGACCTCTGTTATACTCCAGGAAGGACAGTAAGCAGTGGCAGAAAAGGCAGGGCTGAGGGGACAAATGCAGCCCCTGCCACTCCCAGGCTGGGGAACCCTGGACACCCCTCAGACAGCCCTGACTGAACTGATTCTGCACACAGTTGACACAAAGTGAGACTGGATGGGCGATACCCCCCAACACACAAAGTTCTCTTCTCATCTGCCCAGATGAGGGCCCCTGCCTCAGCCACTGTTAGGGTCTCCCTTCTGCACCCTCCTTAGATGCCCCCACCTTGTGGTAGAGGGTGAGTGGGTCTGGCCGGCCAGGGGTGGGCTCCAGCTCCTCTAGATCTGCCAGGTTCCCTAAGGCCATGGGGTACCTAGGAAAGGATCATAATTCAGGCTGCCACCCAGCCCCCCGGCCTCACCAGGCGCAGCCTGGCCACTTCCCTCTACTGACCTTTCCAGATGTCCCAGGTCATAGAGCAGCCAGAGCAGCTTCTAGGAGCCGAAGGAGAGAGTTATGAGCCACGGAACAGGGAGGAGAACGGGTCCTTAGCCTATCGGGCAGAGGTGGGGGTCAGAACCAACAGGGACCACCCACCATGTGGAAGGGCCAAAATTCTGGGACCAGCCCTTTAATGGAGTCAAAGCAATTTCACATCTCAATTCTACTCTCCCAAGAGCCCTGGGAAAGGCCAGGCCAGGAATTACTAACCCATTTTTCCAGGAGGGGAAGCTGAAGCTCAGGAAGGGAAAGTGCCCCTGCCCAGGGTCCCACAGCAAGTCAAGTCTGGCCTAGCCCAGTCCTGCCCCATTGGCTCAGCCCTCACCTGCTGCAGCTGCAGAAGCTCCAGCGAGTCGGTGTGCAGGTCAATGGAAGGGTTGATGGCACACACCATGAACGCCACCTCCATCTTGCGGTCACAGCGCATGTATGATCCTTTCAGGTACAGCCAGCTCTTAGGGGGGGATGAGATCATTATGTCTCATGATGGCCCACCCTGTGCCTGCTTCAGGGAATGACAGCCAGGAAAAGGGGCTCTTCTGTCTTCCCTTCCTATGTGGGTGGTGATGGGAAGAAAGGGGTGTGGCCCAAGAAAATGGAGTCCCTTGGGTGGCTTGGGCTACTACAGTATGAAGGGGACAAGGCTGGGGGGAGGGAACAATACCCGCTCAGCCACACCGGCATTGACTGTCTGGCCCCTGCGGTCCTCGTTGCCCTTGCCGTGCCAGGTGACCTCAGCTGTCTGCTCCCCATTGGGCCCAAACACTACCCAGGCATGATCCTCAGACAGGGCGAGGTGGACATCCCGGAGACCCAGGGCCTGGCAGGCCCCAACCACAGCAAAGGCCACACCGGAGCTGTCCAATTTGGTGCCTGTGGAAGGGGGAGGTAATGAAAGAGGGTCCTCTGTGCTTTAACATGGGGAAAGGGGGCCAGGTAGTGATGGGCCACACTCCCTCCCACTCCCTTTCCAAGCCTGTGACCCAACCTCAGATTCTCCTGCCCACTATCCCTCCATCCCTTCCCTCCCACGTGTTCAAAGACTCTCTCCCTGTTTACACCCTCTATGTCCAACAAGATACCTTTCTGGATATCCTGTAGCTGACCCAGCCTTTGGCCCTACCTCGTCTTTCTCTGCAACTCTATTATATATTCTATGGATTTAGGGATTCCATTTTACTGCACTTACTAGGTTAAAACAGGAATGGCAAAAACAGGACGCTGGCCAACACTCTCTGGCTATACACCCACCAACAAATAACCCTCATTTATCTCTGCACTCTTTTCCTGCTAAGCTGAGAAGCAGCCTCTGATTCCTTCTCAATATGGCACACCAGGATGGGATTGCCAGTCAACCGGGCTTGGTGCAAAGCTCTTTGCAAGCCCTGACTCTTAAGCCTTTTGAGGTCAAGCCCCTTCTCTGTCTCAAACATTTTTGACCAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCTCGTCTCTACTAAAAATCCAAAAAAAAATTAGCCAGGCATGGTGGCAGGCTCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGGCAGGAGAATGGCATGAAAGCAGGAGGCAGAGCTTGCAGTGAGCCGAGATTGCACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACGCCGTCTGAAAAAAAAAAAAAAATTTTCATAGGCCACCAGTTGCGGTGGCTCACACCTGTAATCCCAGCATTTGGGAGACTGAGGCGGGCAGATCACTTGAGCCCAAGAGTTCAAGACCAGTCTGGGCCACATAGTGAGACACCATCTCTACAAAAAAAATACAAAAAATTAACCAGCACCACGGTGCATGCCTGTACTCTCAGCTACTCAGGAGGCTGAGGTTGGAGGATCTCTGAGCCCAGGGAGACTGAGGCTGCAGTGAGCCATGATCACACCACT | TCGTAGAATCGCAGCAGGTGGGCGAAGCACTCAGGGTCCTGGAGGGCGGAACCTTGGCTCTGGGTGCCCTGGACGAGGGGGAAGGGAGGGCACAGATCAGTCTCTTACTCACCCCTTAGCAGAGGGCACAGGCCAGGCCCCCCACCTAGGCAAAGACCCCTGGCTCCAGAAAAGGTAAGCATAGGTTGGGAACATTCTTAGAACCTCTTTCCTTTTATAAAGCCAATCCATAGCCAGGACGTACCATCCCTACCTCCACCCCTCAGCTGAGGGAGGGAGTCTGGCCATGAAACTGAAGGCACAGGGTAGAAACCTCTAAAATACCTTCAGTCCCGTCCAACGTGGGCCCAGGACCTCAGTTATAGCAAAAGGGAACATAGCTGTCTGCTCAGGGCCACCTTCCTCCTGCCATCCCTAATCCCGTACATGCAGCCCCCATGGCCTGTGGAAGGGAGCCCTGTCCAGGTGGGAGGCTGGACACAGGCTGGAGCTCCAGCCTTTCACCTGGCTTTGCTCCCCCGGCCGCTCCTCGCCCGCCTCCAGCAAGCTGGCTGCCTCCTTCAGCAGGTTGGGGATGACATCATTGGCTACTTCAAAGAACTCCTTGTAGATCTCCTCGTCTTCCCGGCAGTAGTTGTAGCTGTGAGAGCAGTGGGGTCTCTGTAGGGTCTGAAGGGGTCTCACCATCGGGGGTAGCCCCAGGGACCTGGCGGGGGATGGAGCCCCCAGGGGCTGGGGGAGTAGGTGGGGTCCTCACTGCAAAATGATGCTGTCTGGGTCAGCCCAGAGGAAGAAAGCAAGAATGAGGAGGGGGGCATGGGGCCGAGGGTGGAAGTCCCACTGCTGGATGATGGTGGTTAAACATTGGAGATTTGAGACTGTTCTGAGAAAAAAAAAATTAGGAGGAGAGGGGAGGGAGGGAAAGATGTGACACCTTAATCAGGGTCCCTACCTCCTGGGTAATGGTGGCCTTGCTGCCTAGGGACTGGATGGAAAGGGGATGGGGCGTGGGAGCCAGGCCTCAGTCCTGGACGAGGGTGGTTGGAAACTGATGGAGGGGAAGAAAGGACAGGCTGCAGGCCCTAGTAGGGGGATCCTCACTCCTGGATGACAGTGGCCGTGTCCGCCCAGGCCTGCAGGGCTTCCCGCACATTGCGGTTGCGACAGTGGTAGCCAGCCAGGTACATGTAGGGGTAGATGTGTTCATCCCGATAGTAGGTCTTGGCTGAGGCAATGCCCTGGATGGAGGTGAGGCAGAGGATCCTCAGGGAGGCAGCCCCAGCTGCCCTGCTGGCACAAATGCCCCACCAGGGCACACCCAGAAGGGGCCACAGGAAGATCCCAGGGAGTCCTCTCCATCTCCACTCCCACCTCCACTCGCTGCCAGCCCTTCTACCTGGTCTCCTCCCTGGGTCTACAGGACTGCTGGCTGAGGCCTGGGGCAGACTGCAGGGGTGGGGCCTGCCCTCCGAGCTCAGGGCCCTTCTCTTTCTCAGACACTCTTCTACACATCACCAAAGACTTTCAAGCCCAGCCCAATGGCCCTCCTCCCCACCTACACCCACCAAGTGAACACCCCCTCTTCATCAGTGCTCCTGCCACATTTGACCTCTGTTATACTCCAGGAAGGACAGTAAGCAGTGGCAGAAAAGGCAGGGCTGAGGGGACAAATGCAGCCCCTGCCACTCCCAGGCTGGGGAACCCTGGACACCCCTCAGACAGCCCTGACTGAACTGATTCTGCACACAGTTGACACAAAGTGAGACTGGATGGGCGATACCCCCCAACACACAAAGTTCTCTTCTCATCTGCCCAGATGAGGGCCCCTGCCTCAGCCACTGTTAGGGTCTCCCTTCTGCACCCTCCTTAGATGCCCCCACCTTGTGGTAGAGGGTGAGTGGGTCTGGCCGGCCAGGGGTGGGCTCCAGCTCCTCTAGATCTGCCAGGTTCCCTAAGGCCATGGGGTACCTAGGAAAGGATCATAATTCAGGCTGCCACCCAGCCCCCCGGCCTCACCAGGCGCAGCCTGGCCACTTCCCTCTACTGACCTTCCAGATGTCCCAGGTCATAGAGCAGCCAGAGCAGCTTCTAGGAGCCGAAGGAGAGAGTTATGAGCCACGGAACAGGGAGGAGAACGGGTCCTTAGCCTATCGGGCAGAGGTGGGGGTCAGAACCAACAGGGACCACCCACCATGTGGAAGGGCCAAAATTCTGGGACCAGCCCTTTAATGGAGTCAAAGCAATTTCACATCTCAATTCTACTCTCCCAAGAGCCCTGGGAAAGGCCAGGCCAGGAATTACTAACCCATTTTTCCAGGAGGGGAAGCTGAAGCTCAGGAAGGGAAAGTGCCCCTGCCCAGGGTCCCACAGCAAGTCAAGTCTGGCCTAGCCCAGTCCTGCCCCATTGGCTCAGCCCTCACCTGCTGCAGCTGCAGAAGCTCCAGCGAGTCGGTGTGCAGGTCAATGGAAGGGTTGATGGCACACACCATGAACGCCACCTCCATCTTGCGGTCACAGCGCATGTATGATCCTTTCAGGTACAGCCAGCTCTTAGGGGGGGATGAGATCATTATGTCTCATGATGGCCCACCCTGTGCCTGCTTCAGGGAATGACAGCCAGGAAAAGGGGCTCTTCTGTCTTCCCTTCCTATGTGGGTGGTGATGGGAAGAAAGGGGTGTGGCCCAAGAAAATGGAGTCCCTTGGGTGGCTTGGGCTACTACAGTATGAAGGGGACAAGGCTGGGGGGAGGGAACAATACCCGCTCAGCCACACCGGCATTGACTGTCTGGCCCCTGCGGTCCTCGTTGCCCTTGCCGTGCCAGGTGACCTCAGCTGTCTGCTCCCCATTGGGCCCAAACACTACCCAGGCATGATCCTCAGACAGGGCGAGGTGGACATCCCGGAGACCCAGGGCCTGGCAGGCCCCAACCACAGCAAAGGCCACACCGGAGCTGTCCAATTTGGTGCCTGTGGAAGGGGGAGGTAATGAAAGAGGGTCCTCTGTGCTTTAACATGGGGAAAGGGGGCCAGGTAGTGATGGGCCACACTCCCTCCCACTCCCTTTCCAAGCCTGTGACCCAACCTCAGATTCTCCTGCCCACTATCCCTCCATCCCTTCCCTCCCACGTGTTCAAAGACTCTCTCCCTGTTTACACCCTCTATGTCCAACAAGATACCTTTCTGGATATCCTGTAGCTGACCCAGCCTTTGGCCCTACCTCGTCTTTCTCTGCAACTCTATTATATATTCTATGGATTTAGGGATTCCATTTTACTGCACTTACTAGGTTAAAACAGGAATGGCAAAAACAGGACGCTGGCCAACACTCTCTGGCTATACACCCACCAACAAATAACCCTCATTTATCTCTGCACTCTTTTCCTGCTAAGCTGAGAAGCAGCCTCTGATTCCTTCTCAATATGGCACACCAGGATGGGATTGCCAGTCAACCGGGCTTGGTGCAAAGCTCTTTGCAAGCCCTGACTCTTAAGCCTTTTGAGGTCAAGCCCCTTCTCTGTCTCAAACATTTTTGACCAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCTCGTCTCTACTAAAAATCCAAAAAAAAATTAGCCAGGCATGGTGGCAGGCTCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGGCAGGAGAATGGCATGAAAGCAGGAGGCAGAGCTTGCAGTGAGCCGAGATTGCACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACGCCGTCTGAAAAAAAAAAAAAAATTTTCATAGGCCACCAGTTGCGGTGGCTCACACCTGTAATCCCAGCATTTGGGAGACTGAGGCGGGCAGATCACTTGAGCCCAAGAGTTCAAGACCAGTCTGGGCCACATAGTGAGACACCATCTCTACAAAAAAAATACAAAAAATTAACCAGCACCACGGTGCATGCCTGTACTCTCAGCTACTCAGGAGGCTGAGGTTGGAGGATCTCTGAGCCCAGGGAGACTGAGGCTGCAGTGAGCCATGATCACACCACTN | pathogenic | 177,868 |
Determine if the mutation at chromosome 11, position 64807206 in gene MEN1 (menin 1) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Multiple_endocrine_neoplasia,_type_1'] | CACTCAGGGTCCTGGAGGGCGGAACCTTGGCTCTGGGTGCCCTGGACGAGGGGGAAGGGAGGGCACAGATCAGTCTCTTACTCACCCCTTAGCAGAGGGCACAGGCCAGGCCCCCCACCTAGGCAAAGACCCCTGGCTCCAGAAAAGGTAAGCATAGGTTGGGAACATTCTTAGAACCTCTTTCCTTTTATAAAGCCAATCCATAGCCAGGACGTACCATCCCTACCTCCACCCCTCAGCTGAGGGAGGGAGTCTGGCCATGAAACTGAAGGCACAGGGTAGAAACCTCTAAAATACCTTCAGTCCCGTCCAACGTGGGCCCAGGACCTCAGTTATAGCAAAAGGGAACATAGCTGTCTGCTCAGGGCCACCTTCCTCCTGCCATCCCTAATCCCGTACATGCAGCCCCCATGGCCTGTGGAAGGGAGCCCTGTCCAGGTGGGAGGCTGGACACAGGCTGGAGCTCCAGCCTTTCACCTGGCTTTGCTCCCCCGGCCGCTCCTCGCCCGCCTCCAGCAAGCTGGCTGCCTCCTTCAGCAGGTTGGGGATGACATCATTGGCTACTTCAAAGAACTCCTTGTAGATCTCCTCGTCTTCCCGGCAGTAGTTGTAGCTGTGAGAGCAGTGGGGTCTCTGTAGGGTCTGAAGGGGTCTCACCATCGGGGGTAGCCCCAGGGACCTGGCGGGGGATGGAGCCCCCAGGGGCTGGGGGAGTAGGTGGGGTCCTCACTGCAAAATGATGCTGTCTGGGTCAGCCCAGAGGAAGAAAGCAAGAATGAGGAGGGGGGCATGGGGCCGAGGGTGGAAGTCCCACTGCTGGATGATGGTGGTTAAACATTGGAGATTTGAGACTGTTCTGAGAAAAAAAAAATTAGGAGGAGAGGGGAGGGAGGGAAAGATGTGACACCTTAATCAGGGTCCCTACCTCCTGGGTAATGGTGGCCTTGCTGCCTAGGGACTGGATGGAAAGGGGATGGGGCGTGGGAGCCAGGCCTCAGTCCTGGACGAGGGTGGTTGGAAACTGATGGAGGGGAAGAAAGGACAGGCTGCAGGCCCTAGTAGGGGGATCCTCACTCCTGGATGACAGTGGCCGTGTCCGCCCAGGCCTGCAGGGCTTCCCGCACATTGCGGTTGCGACAGTGGTAGCCAGCCAGGTACATGTAGGGGTAGATGTGTTCATCCCGATAGTAGGTCTTGGCTGAGGCAATGCCCTGGATGGAGGTGAGGCAGAGGATCCTCAGGGAGGCAGCCCCAGCTGCCCTGCTGGCACAAATGCCCCACCAGGGCACACCCAGAAGGGGCCACAGGAAGATCCCAGGGAGTCCTCTCCATCTCCACTCCCACCTCCACTCGCTGCCAGCCCTTCTACCTGGTCTCCTCCCTGGGTCTACAGGACTGCTGGCTGAGGCCTGGGGCAGACTGCAGGGGTGGGGCCTGCCCTCCGAGCTCAGGGCCCTTCTCTTTCTCAGACACTCTTCTACACATCACCAAAGACTTTCAAGCCCAGCCCAATGGCCCTCCTCCCCACCTACACCCACCAAGTGAACACCCCCTCTTCATCAGTGCTCCTGCCACATTTGACCTCTGTTATACTCCAGGAAGGACAGTAAGCAGTGGCAGAAAAGGCAGGGCTGAGGGGACAAATGCAGCCCCTGCCACTCCCAGGCTGGGGAACCCTGGACACCCCTCAGACAGCCCTGACTGAACTGATTCTGCACACAGTTGACACAAAGTGAGACTGGATGGGCGATACCCCCCAACACACAAAGTTCTCTTCTCATCTGCCCAGATGAGGGCCCCTGCCTCAGCCACTGTTAGGGTCTCCCTTCTGCACCCTCCTTAGATGCCCCCACCTTGTGGTAGAGGGTGAGTGGGTCTGGCCGGCCAGGGGTGGGCTCCAGCTCCTCTAGATCTGCCAGGTTCCCTAAGGCCATGGGGTACCTAGGAAAGGATCATAATTCAGGCTGCCACCCAGCCCCCCGGCCTCACCAGGCGCAGCCTGGCCACTTCCCTCTACTGACCTTTCCAGATGTCCCAGGTCATAGAGCAGCCAGAGCAGCTTCTAGGAGCCGAAGGAGAGAGTTATGAGCCACGGAACAGGGAGGAGAACGGGTCCTTAGCCTATCGGGCAGAGGTGGGGGTCAGAACCAACAGGGACCACCCACCATGTGGAAGGGCCAAAATTCTGGGACCAGCCCTTTAATGGAGTCAAAGCAATTTCACATCTCAATTCTACTCTCCCAAGAGCCCTGGGAAAGGCCAGGCCAGGAATTACTAACCCATTTTTCCAGGAGGGGAAGCTGAAGCTCAGGAAGGGAAAGTGCCCCTGCCCAGGGTCCCACAGCAAGTCAAGTCTGGCCTAGCCCAGTCCTGCCCCATTGGCTCAGCCCTCACCTGCTGCAGCTGCAGAAGCTCCAGCGAGTCGGTGTGCAGGTCAATGGAAGGGTTGATGGCACACACCATGAACGCCACCTCCATCTTGCGGTCACAGCGCATGTATGATCCTTTCAGGTACAGCCAGCTCTTAGGGGGGGATGAGATCATTATGTCTCATGATGGCCCACCCTGTGCCTGCTTCAGGGAATGACAGCCAGGAAAAGGGGCTCTTCTGTCTTCCCTTCCTATGTGGGTGGTGATGGGAAGAAAGGGGTGTGGCCCAAGAAAATGGAGTCCCTTGGGTGGCTTGGGCTACTACAGTATGAAGGGGACAAGGCTGGGGGGAGGGAACAATACCCGCTCAGCCACACCGGCATTGACTGTCTGGCCCCTGCGGTCCTCGTTGCCCTTGCCGTGCCAGGTGACCTCAGCTGTCTGCTCCCCATTGGGCCCAAACACTACCCAGGCATGATCCTCAGACAGGGCGAGGTGGACATCCCGGAGACCCAGGGCCTGGCAGGCCCCAACCACAGCAAAGGCCACACCGGAGCTGTCCAATTTGGTGCCTGTGGAAGGGGGAGGTAATGAAAGAGGGTCCTCTGTGCTTTAACATGGGGAAAGGGGGCCAGGTAGTGATGGGCCACACTCCCTCCCACTCCCTTTCCAAGCCTGTGACCCAACCTCAGATTCTCCTGCCCACTATCCCTCCATCCCTTCCCTCCCACGTGTTCAAAGACTCTCTCCCTGTTTACACCCTCTATGTCCAACAAGATACCTTTCTGGATATCCTGTAGCTGACCCAGCCTTTGGCCCTACCTCGTCTTTCTCTGCAACTCTATTATATATTCTATGGATTTAGGGATTCCATTTTACTGCACTTACTAGGTTAAAACAGGAATGGCAAAAACAGGACGCTGGCCAACACTCTCTGGCTATACACCCACCAACAAATAACCCTCATTTATCTCTGCACTCTTTTCCTGCTAAGCTGAGAAGCAGCCTCTGATTCCTTCTCAATATGGCACACCAGGATGGGATTGCCAGTCAACCGGGCTTGGTGCAAAGCTCTTTGCAAGCCCTGACTCTTAAGCCTTTTGAGGTCAAGCCCCTTCTCTGTCTCAAACATTTTTGACCAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCTCGTCTCTACTAAAAATCCAAAAAAAAATTAGCCAGGCATGGTGGCAGGCTCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGGCAGGAGAATGGCATGAAAGCAGGAGGCAGAGCTTGCAGTGAGCCGAGATTGCACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACGCCGTCTGAAAAAAAAAAAAAAATTTTCATAGGCCACCAGTTGCGGTGGCTCACACCTGTAATCCCAGCATTTGGGAGACTGAGGCGGGCAGATCACTTGAGCCCAAGAGTTCAAGACCAGTCTGGGCCACATAGTGAGACACCATCTCTACAAAAAAAATACAAAAAATTAACCAGCACCACGGTGCATGCCTGTACTCTCAGCTACTCAGGAGGCTGAGGTTGGAGGATCTCTGAGCCCAGGGAGACTGAGGCTGCAGTGAGCCATGATCACACCACTGCACTCCAGCCTGGGGGACAGAGTGAG | CACTCAGGGTCCTGGAGGGCGGAACCTTGGCTCTGGGTGCCCTGGACGAGGGGGAAGGGAGGGCACAGATCAGTCTCTTACTCACCCCTTAGCAGAGGGCACAGGCCAGGCCCCCCACCTAGGCAAAGACCCCTGGCTCCAGAAAAGGTAAGCATAGGTTGGGAACATTCTTAGAACCTCTTTCCTTTTATAAAGCCAATCCATAGCCAGGACGTACCATCCCTACCTCCACCCCTCAGCTGAGGGAGGGAGTCTGGCCATGAAACTGAAGGCACAGGGTAGAAACCTCTAAAATACCTTCAGTCCCGTCCAACGTGGGCCCAGGACCTCAGTTATAGCAAAAGGGAACATAGCTGTCTGCTCAGGGCCACCTTCCTCCTGCCATCCCTAATCCCGTACATGCAGCCCCCATGGCCTGTGGAAGGGAGCCCTGTCCAGGTGGGAGGCTGGACACAGGCTGGAGCTCCAGCCTTTCACCTGGCTTTGCTCCCCCGGCCGCTCCTCGCCCGCCTCCAGCAAGCTGGCTGCCTCCTTCAGCAGGTTGGGGATGACATCATTGGCTACTTCAAAGAACTCCTTGTAGATCTCCTCGTCTTCCCGGCAGTAGTTGTAGCTGTGAGAGCAGTGGGGTCTCTGTAGGGTCTGAAGGGGTCTCACCATCGGGGGTAGCCCCAGGGACCTGGCGGGGGATGGAGCCCCCAGGGGCTGGGGGAGTAGGTGGGGTCCTCACTGCAAAATGATGCTGTCTGGGTCAGCCCAGAGGAAGAAAGCAAGAATGAGGAGGGGGGCATGGGGCCGAGGGTGGAAGTCCCACTGCTGGATGATGGTGGTTAAACATTGGAGATTTGAGACTGTTCTGAGAAAAAAAAAATTAGGAGGAGAGGGGAGGGAGGGAAAGATGTGACACCTTAATCAGGGTCCCTACCTCCTGGGTAATGGTGGCCTTGCTGCCTAGGGACTGGATGGAAAGGGGATGGGGCGTGGGAGCCAGGCCTCAGTCCTGGACGAGGGTGGTTGGAAACTGATGGAGGGGAAGAAAGGACAGGCTGCAGGCCCTAGTAGGGGGATCCTCACTCCTGGATGACAGTGGCCGTGTCCGCCCAGGCCTGCAGGGCTTCCCGCACATTGCGGTTGCGACAGTGGTAGCCAGCCAGGTACATGTAGGGGTAGATGTGTTCATCCCGATAGTAGGTCTTGGCTGAGGCAATGCCCTGGATGGAGGTGAGGCAGAGGATCCTCAGGGAGGCAGCCCCAGCTGCCCTGCTGGCACAAATGCCCCACCAGGGCACACCCAGAAGGGGCCACAGGAAGATCCCAGGGAGTCCTCTCCATCTCCACTCCCACCTCCACTCGCTGCCAGCCCTTCTACCTGGTCTCCTCCCTGGGTCTACAGGACTGCTGGCTGAGGCCTGGGGCAGACTGCAGGGGTGGGGCCTGCCCTCCGAGCTCAGGGCCCTTCTCTTTCTCAGACACTCTTCTACACATCACCAAAGACTTTCAAGCCCAGCCCAATGGCCCTCCTCCCCACCTACACCCACCAAGTGAACACCCCCTCTTCATCAGTGCTCCTGCCACATTTGACCTCTGTTATACTCCAGGAAGGACAGTAAGCAGTGGCAGAAAAGGCAGGGCTGAGGGGACAAATGCAGCCCCTGCCACTCCCAGGCTGGGGAACCCTGGACACCCCTCAGACAGCCCTGACTGAACTGATTCTGCACACAGTTGACACAAAGTGAGACTGGATGGGCGATACCCCCCAACACACAAAGTTCTCTTCTCATCTGCCCAGATGAGGGCCCCTGCCTCAGCCACTGTTAGGGTCTCCCTTCTGCACCCTCCTTAGATGCCCCCACCTTGTGGTAGAGGGTGAGTGGGTCTGGCCGGCCAGGGGTGGGCTCCAGCTCCTCTAGATCTGCCAGGTTCCCTAAGGCCATGGGGTACCTAGGAAAGGATCATAATTCAGGCTGCCACCCAGCCCCCCGGCCTCACCAGGCGCAGCCTGGCCACTTCCCTCTACTGACCTTTCCAGATGTCCCAGGTCATAGAGCACCAGAGCAGCTTCTAGGAGCCGAAGGAGAGAGTTATGAGCCACGGAACAGGGAGGAGAACGGGTCCTTAGCCTATCGGGCAGAGGTGGGGGTCAGAACCAACAGGGACCACCCACCATGTGGAAGGGCCAAAATTCTGGGACCAGCCCTTTAATGGAGTCAAAGCAATTTCACATCTCAATTCTACTCTCCCAAGAGCCCTGGGAAAGGCCAGGCCAGGAATTACTAACCCATTTTTCCAGGAGGGGAAGCTGAAGCTCAGGAAGGGAAAGTGCCCCTGCCCAGGGTCCCACAGCAAGTCAAGTCTGGCCTAGCCCAGTCCTGCCCCATTGGCTCAGCCCTCACCTGCTGCAGCTGCAGAAGCTCCAGCGAGTCGGTGTGCAGGTCAATGGAAGGGTTGATGGCACACACCATGAACGCCACCTCCATCTTGCGGTCACAGCGCATGTATGATCCTTTCAGGTACAGCCAGCTCTTAGGGGGGGATGAGATCATTATGTCTCATGATGGCCCACCCTGTGCCTGCTTCAGGGAATGACAGCCAGGAAAAGGGGCTCTTCTGTCTTCCCTTCCTATGTGGGTGGTGATGGGAAGAAAGGGGTGTGGCCCAAGAAAATGGAGTCCCTTGGGTGGCTTGGGCTACTACAGTATGAAGGGGACAAGGCTGGGGGGAGGGAACAATACCCGCTCAGCCACACCGGCATTGACTGTCTGGCCCCTGCGGTCCTCGTTGCCCTTGCCGTGCCAGGTGACCTCAGCTGTCTGCTCCCCATTGGGCCCAAACACTACCCAGGCATGATCCTCAGACAGGGCGAGGTGGACATCCCGGAGACCCAGGGCCTGGCAGGCCCCAACCACAGCAAAGGCCACACCGGAGCTGTCCAATTTGGTGCCTGTGGAAGGGGGAGGTAATGAAAGAGGGTCCTCTGTGCTTTAACATGGGGAAAGGGGGCCAGGTAGTGATGGGCCACACTCCCTCCCACTCCCTTTCCAAGCCTGTGACCCAACCTCAGATTCTCCTGCCCACTATCCCTCCATCCCTTCCCTCCCACGTGTTCAAAGACTCTCTCCCTGTTTACACCCTCTATGTCCAACAAGATACCTTTCTGGATATCCTGTAGCTGACCCAGCCTTTGGCCCTACCTCGTCTTTCTCTGCAACTCTATTATATATTCTATGGATTTAGGGATTCCATTTTACTGCACTTACTAGGTTAAAACAGGAATGGCAAAAACAGGACGCTGGCCAACACTCTCTGGCTATACACCCACCAACAAATAACCCTCATTTATCTCTGCACTCTTTTCCTGCTAAGCTGAGAAGCAGCCTCTGATTCCTTCTCAATATGGCACACCAGGATGGGATTGCCAGTCAACCGGGCTTGGTGCAAAGCTCTTTGCAAGCCCTGACTCTTAAGCCTTTTGAGGTCAAGCCCCTTCTCTGTCTCAAACATTTTTGACCAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCTCGTCTCTACTAAAAATCCAAAAAAAAATTAGCCAGGCATGGTGGCAGGCTCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGGCAGGAGAATGGCATGAAAGCAGGAGGCAGAGCTTGCAGTGAGCCGAGATTGCACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACGCCGTCTGAAAAAAAAAAAAAAATTTTCATAGGCCACCAGTTGCGGTGGCTCACACCTGTAATCCCAGCATTTGGGAGACTGAGGCGGGCAGATCACTTGAGCCCAAGAGTTCAAGACCAGTCTGGGCCACATAGTGAGACACCATCTCTACAAAAAAAATACAAAAAATTAACCAGCACCACGGTGCATGCCTGTACTCTCAGCTACTCAGGAGGCTGAGGTTGGAGGATCTCTGAGCCCAGGGAGACTGAGGCTGCAGTGAGCCATGATCACACCACTGCACTCCAGCCTGGGGGACAGAGTGAGN | pathogenic | 177,872 |
The chromosome 11, position 64807216 genetic variant in gene MEN1 (menin 1): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Multiple_endocrine_neoplasia,_type_1'] | CCTGGAGGGCGGAACCTTGGCTCTGGGTGCCCTGGACGAGGGGGAAGGGAGGGCACAGATCAGTCTCTTACTCACCCCTTAGCAGAGGGCACAGGCCAGGCCCCCCACCTAGGCAAAGACCCCTGGCTCCAGAAAAGGTAAGCATAGGTTGGGAACATTCTTAGAACCTCTTTCCTTTTATAAAGCCAATCCATAGCCAGGACGTACCATCCCTACCTCCACCCCTCAGCTGAGGGAGGGAGTCTGGCCATGAAACTGAAGGCACAGGGTAGAAACCTCTAAAATACCTTCAGTCCCGTCCAACGTGGGCCCAGGACCTCAGTTATAGCAAAAGGGAACATAGCTGTCTGCTCAGGGCCACCTTCCTCCTGCCATCCCTAATCCCGTACATGCAGCCCCCATGGCCTGTGGAAGGGAGCCCTGTCCAGGTGGGAGGCTGGACACAGGCTGGAGCTCCAGCCTTTCACCTGGCTTTGCTCCCCCGGCCGCTCCTCGCCCGCCTCCAGCAAGCTGGCTGCCTCCTTCAGCAGGTTGGGGATGACATCATTGGCTACTTCAAAGAACTCCTTGTAGATCTCCTCGTCTTCCCGGCAGTAGTTGTAGCTGTGAGAGCAGTGGGGTCTCTGTAGGGTCTGAAGGGGTCTCACCATCGGGGGTAGCCCCAGGGACCTGGCGGGGGATGGAGCCCCCAGGGGCTGGGGGAGTAGGTGGGGTCCTCACTGCAAAATGATGCTGTCTGGGTCAGCCCAGAGGAAGAAAGCAAGAATGAGGAGGGGGGCATGGGGCCGAGGGTGGAAGTCCCACTGCTGGATGATGGTGGTTAAACATTGGAGATTTGAGACTGTTCTGAGAAAAAAAAAATTAGGAGGAGAGGGGAGGGAGGGAAAGATGTGACACCTTAATCAGGGTCCCTACCTCCTGGGTAATGGTGGCCTTGCTGCCTAGGGACTGGATGGAAAGGGGATGGGGCGTGGGAGCCAGGCCTCAGTCCTGGACGAGGGTGGTTGGAAACTGATGGAGGGGAAGAAAGGACAGGCTGCAGGCCCTAGTAGGGGGATCCTCACTCCTGGATGACAGTGGCCGTGTCCGCCCAGGCCTGCAGGGCTTCCCGCACATTGCGGTTGCGACAGTGGTAGCCAGCCAGGTACATGTAGGGGTAGATGTGTTCATCCCGATAGTAGGTCTTGGCTGAGGCAATGCCCTGGATGGAGGTGAGGCAGAGGATCCTCAGGGAGGCAGCCCCAGCTGCCCTGCTGGCACAAATGCCCCACCAGGGCACACCCAGAAGGGGCCACAGGAAGATCCCAGGGAGTCCTCTCCATCTCCACTCCCACCTCCACTCGCTGCCAGCCCTTCTACCTGGTCTCCTCCCTGGGTCTACAGGACTGCTGGCTGAGGCCTGGGGCAGACTGCAGGGGTGGGGCCTGCCCTCCGAGCTCAGGGCCCTTCTCTTTCTCAGACACTCTTCTACACATCACCAAAGACTTTCAAGCCCAGCCCAATGGCCCTCCTCCCCACCTACACCCACCAAGTGAACACCCCCTCTTCATCAGTGCTCCTGCCACATTTGACCTCTGTTATACTCCAGGAAGGACAGTAAGCAGTGGCAGAAAAGGCAGGGCTGAGGGGACAAATGCAGCCCCTGCCACTCCCAGGCTGGGGAACCCTGGACACCCCTCAGACAGCCCTGACTGAACTGATTCTGCACACAGTTGACACAAAGTGAGACTGGATGGGCGATACCCCCCAACACACAAAGTTCTCTTCTCATCTGCCCAGATGAGGGCCCCTGCCTCAGCCACTGTTAGGGTCTCCCTTCTGCACCCTCCTTAGATGCCCCCACCTTGTGGTAGAGGGTGAGTGGGTCTGGCCGGCCAGGGGTGGGCTCCAGCTCCTCTAGATCTGCCAGGTTCCCTAAGGCCATGGGGTACCTAGGAAAGGATCATAATTCAGGCTGCCACCCAGCCCCCCGGCCTCACCAGGCGCAGCCTGGCCACTTCCCTCTACTGACCTTTCCAGATGTCCCAGGTCATAGAGCAGCCAGAGCAGCTTCTAGGAGCCGAAGGAGAGAGTTATGAGCCACGGAACAGGGAGGAGAACGGGTCCTTAGCCTATCGGGCAGAGGTGGGGGTCAGAACCAACAGGGACCACCCACCATGTGGAAGGGCCAAAATTCTGGGACCAGCCCTTTAATGGAGTCAAAGCAATTTCACATCTCAATTCTACTCTCCCAAGAGCCCTGGGAAAGGCCAGGCCAGGAATTACTAACCCATTTTTCCAGGAGGGGAAGCTGAAGCTCAGGAAGGGAAAGTGCCCCTGCCCAGGGTCCCACAGCAAGTCAAGTCTGGCCTAGCCCAGTCCTGCCCCATTGGCTCAGCCCTCACCTGCTGCAGCTGCAGAAGCTCCAGCGAGTCGGTGTGCAGGTCAATGGAAGGGTTGATGGCACACACCATGAACGCCACCTCCATCTTGCGGTCACAGCGCATGTATGATCCTTTCAGGTACAGCCAGCTCTTAGGGGGGGATGAGATCATTATGTCTCATGATGGCCCACCCTGTGCCTGCTTCAGGGAATGACAGCCAGGAAAAGGGGCTCTTCTGTCTTCCCTTCCTATGTGGGTGGTGATGGGAAGAAAGGGGTGTGGCCCAAGAAAATGGAGTCCCTTGGGTGGCTTGGGCTACTACAGTATGAAGGGGACAAGGCTGGGGGGAGGGAACAATACCCGCTCAGCCACACCGGCATTGACTGTCTGGCCCCTGCGGTCCTCGTTGCCCTTGCCGTGCCAGGTGACCTCAGCTGTCTGCTCCCCATTGGGCCCAAACACTACCCAGGCATGATCCTCAGACAGGGCGAGGTGGACATCCCGGAGACCCAGGGCCTGGCAGGCCCCAACCACAGCAAAGGCCACACCGGAGCTGTCCAATTTGGTGCCTGTGGAAGGGGGAGGTAATGAAAGAGGGTCCTCTGTGCTTTAACATGGGGAAAGGGGGCCAGGTAGTGATGGGCCACACTCCCTCCCACTCCCTTTCCAAGCCTGTGACCCAACCTCAGATTCTCCTGCCCACTATCCCTCCATCCCTTCCCTCCCACGTGTTCAAAGACTCTCTCCCTGTTTACACCCTCTATGTCCAACAAGATACCTTTCTGGATATCCTGTAGCTGACCCAGCCTTTGGCCCTACCTCGTCTTTCTCTGCAACTCTATTATATATTCTATGGATTTAGGGATTCCATTTTACTGCACTTACTAGGTTAAAACAGGAATGGCAAAAACAGGACGCTGGCCAACACTCTCTGGCTATACACCCACCAACAAATAACCCTCATTTATCTCTGCACTCTTTTCCTGCTAAGCTGAGAAGCAGCCTCTGATTCCTTCTCAATATGGCACACCAGGATGGGATTGCCAGTCAACCGGGCTTGGTGCAAAGCTCTTTGCAAGCCCTGACTCTTAAGCCTTTTGAGGTCAAGCCCCTTCTCTGTCTCAAACATTTTTGACCAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCTCGTCTCTACTAAAAATCCAAAAAAAAATTAGCCAGGCATGGTGGCAGGCTCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGGCAGGAGAATGGCATGAAAGCAGGAGGCAGAGCTTGCAGTGAGCCGAGATTGCACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACGCCGTCTGAAAAAAAAAAAAAAATTTTCATAGGCCACCAGTTGCGGTGGCTCACACCTGTAATCCCAGCATTTGGGAGACTGAGGCGGGCAGATCACTTGAGCCCAAGAGTTCAAGACCAGTCTGGGCCACATAGTGAGACACCATCTCTACAAAAAAAATACAAAAAATTAACCAGCACCACGGTGCATGCCTGTACTCTCAGCTACTCAGGAGGCTGAGGTTGGAGGATCTCTGAGCCCAGGGAGACTGAGGCTGCAGTGAGCCATGATCACACCACTGCACTCCAGCCTGGGGGACAGAGTGAGACCCTGTCTC | CCTGGAGGGCGGAACCTTGGCTCTGGGTGCCCTGGACGAGGGGGAAGGGAGGGCACAGATCAGTCTCTTACTCACCCCTTAGCAGAGGGCACAGGCCAGGCCCCCCACCTAGGCAAAGACCCCTGGCTCCAGAAAAGGTAAGCATAGGTTGGGAACATTCTTAGAACCTCTTTCCTTTTATAAAGCCAATCCATAGCCAGGACGTACCATCCCTACCTCCACCCCTCAGCTGAGGGAGGGAGTCTGGCCATGAAACTGAAGGCACAGGGTAGAAACCTCTAAAATACCTTCAGTCCCGTCCAACGTGGGCCCAGGACCTCAGTTATAGCAAAAGGGAACATAGCTGTCTGCTCAGGGCCACCTTCCTCCTGCCATCCCTAATCCCGTACATGCAGCCCCCATGGCCTGTGGAAGGGAGCCCTGTCCAGGTGGGAGGCTGGACACAGGCTGGAGCTCCAGCCTTTCACCTGGCTTTGCTCCCCCGGCCGCTCCTCGCCCGCCTCCAGCAAGCTGGCTGCCTCCTTCAGCAGGTTGGGGATGACATCATTGGCTACTTCAAAGAACTCCTTGTAGATCTCCTCGTCTTCCCGGCAGTAGTTGTAGCTGTGAGAGCAGTGGGGTCTCTGTAGGGTCTGAAGGGGTCTCACCATCGGGGGTAGCCCCAGGGACCTGGCGGGGGATGGAGCCCCCAGGGGCTGGGGGAGTAGGTGGGGTCCTCACTGCAAAATGATGCTGTCTGGGTCAGCCCAGAGGAAGAAAGCAAGAATGAGGAGGGGGGCATGGGGCCGAGGGTGGAAGTCCCACTGCTGGATGATGGTGGTTAAACATTGGAGATTTGAGACTGTTCTGAGAAAAAAAAAATTAGGAGGAGAGGGGAGGGAGGGAAAGATGTGACACCTTAATCAGGGTCCCTACCTCCTGGGTAATGGTGGCCTTGCTGCCTAGGGACTGGATGGAAAGGGGATGGGGCGTGGGAGCCAGGCCTCAGTCCTGGACGAGGGTGGTTGGAAACTGATGGAGGGGAAGAAAGGACAGGCTGCAGGCCCTAGTAGGGGGATCCTCACTCCTGGATGACAGTGGCCGTGTCCGCCCAGGCCTGCAGGGCTTCCCGCACATTGCGGTTGCGACAGTGGTAGCCAGCCAGGTACATGTAGGGGTAGATGTGTTCATCCCGATAGTAGGTCTTGGCTGAGGCAATGCCCTGGATGGAGGTGAGGCAGAGGATCCTCAGGGAGGCAGCCCCAGCTGCCCTGCTGGCACAAATGCCCCACCAGGGCACACCCAGAAGGGGCCACAGGAAGATCCCAGGGAGTCCTCTCCATCTCCACTCCCACCTCCACTCGCTGCCAGCCCTTCTACCTGGTCTCCTCCCTGGGTCTACAGGACTGCTGGCTGAGGCCTGGGGCAGACTGCAGGGGTGGGGCCTGCCCTCCGAGCTCAGGGCCCTTCTCTTTCTCAGACACTCTTCTACACATCACCAAAGACTTTCAAGCCCAGCCCAATGGCCCTCCTCCCCACCTACACCCACCAAGTGAACACCCCCTCTTCATCAGTGCTCCTGCCACATTTGACCTCTGTTATACTCCAGGAAGGACAGTAAGCAGTGGCAGAAAAGGCAGGGCTGAGGGGACAAATGCAGCCCCTGCCACTCCCAGGCTGGGGAACCCTGGACACCCCTCAGACAGCCCTGACTGAACTGATTCTGCACACAGTTGACACAAAGTGAGACTGGATGGGCGATACCCCCCAACACACAAAGTTCTCTTCTCATCTGCCCAGATGAGGGCCCCTGCCTCAGCCACTGTTAGGGTCTCCCTTCTGCACCCTCCTTAGATGCCCCCACCTTGTGGTAGAGGGTGAGTGGGTCTGGCCGGCCAGGGGTGGGCTCCAGCTCCTCTAGATCTGCCAGGTTCCCTAAGGCCATGGGGTACCTAGGAAAGGATCATAATTCAGGCTGCCACCCAGCCCCCCGGCCTCACCAGGCGCAGCCTGGCCACTTCCCTCTACTGACCTTTCCAGATGTCCCAGGTCATAGAGCAGCCAGAGCAGTTCTAGGAGCCGAAGGAGAGAGTTATGAGCCACGGAACAGGGAGGAGAACGGGTCCTTAGCCTATCGGGCAGAGGTGGGGGTCAGAACCAACAGGGACCACCCACCATGTGGAAGGGCCAAAATTCTGGGACCAGCCCTTTAATGGAGTCAAAGCAATTTCACATCTCAATTCTACTCTCCCAAGAGCCCTGGGAAAGGCCAGGCCAGGAATTACTAACCCATTTTTCCAGGAGGGGAAGCTGAAGCTCAGGAAGGGAAAGTGCCCCTGCCCAGGGTCCCACAGCAAGTCAAGTCTGGCCTAGCCCAGTCCTGCCCCATTGGCTCAGCCCTCACCTGCTGCAGCTGCAGAAGCTCCAGCGAGTCGGTGTGCAGGTCAATGGAAGGGTTGATGGCACACACCATGAACGCCACCTCCATCTTGCGGTCACAGCGCATGTATGATCCTTTCAGGTACAGCCAGCTCTTAGGGGGGGATGAGATCATTATGTCTCATGATGGCCCACCCTGTGCCTGCTTCAGGGAATGACAGCCAGGAAAAGGGGCTCTTCTGTCTTCCCTTCCTATGTGGGTGGTGATGGGAAGAAAGGGGTGTGGCCCAAGAAAATGGAGTCCCTTGGGTGGCTTGGGCTACTACAGTATGAAGGGGACAAGGCTGGGGGGAGGGAACAATACCCGCTCAGCCACACCGGCATTGACTGTCTGGCCCCTGCGGTCCTCGTTGCCCTTGCCGTGCCAGGTGACCTCAGCTGTCTGCTCCCCATTGGGCCCAAACACTACCCAGGCATGATCCTCAGACAGGGCGAGGTGGACATCCCGGAGACCCAGGGCCTGGCAGGCCCCAACCACAGCAAAGGCCACACCGGAGCTGTCCAATTTGGTGCCTGTGGAAGGGGGAGGTAATGAAAGAGGGTCCTCTGTGCTTTAACATGGGGAAAGGGGGCCAGGTAGTGATGGGCCACACTCCCTCCCACTCCCTTTCCAAGCCTGTGACCCAACCTCAGATTCTCCTGCCCACTATCCCTCCATCCCTTCCCTCCCACGTGTTCAAAGACTCTCTCCCTGTTTACACCCTCTATGTCCAACAAGATACCTTTCTGGATATCCTGTAGCTGACCCAGCCTTTGGCCCTACCTCGTCTTTCTCTGCAACTCTATTATATATTCTATGGATTTAGGGATTCCATTTTACTGCACTTACTAGGTTAAAACAGGAATGGCAAAAACAGGACGCTGGCCAACACTCTCTGGCTATACACCCACCAACAAATAACCCTCATTTATCTCTGCACTCTTTTCCTGCTAAGCTGAGAAGCAGCCTCTGATTCCTTCTCAATATGGCACACCAGGATGGGATTGCCAGTCAACCGGGCTTGGTGCAAAGCTCTTTGCAAGCCCTGACTCTTAAGCCTTTTGAGGTCAAGCCCCTTCTCTGTCTCAAACATTTTTGACCAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCTCGTCTCTACTAAAAATCCAAAAAAAAATTAGCCAGGCATGGTGGCAGGCTCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGGCAGGAGAATGGCATGAAAGCAGGAGGCAGAGCTTGCAGTGAGCCGAGATTGCACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACGCCGTCTGAAAAAAAAAAAAAAATTTTCATAGGCCACCAGTTGCGGTGGCTCACACCTGTAATCCCAGCATTTGGGAGACTGAGGCGGGCAGATCACTTGAGCCCAAGAGTTCAAGACCAGTCTGGGCCACATAGTGAGACACCATCTCTACAAAAAAAATACAAAAAATTAACCAGCACCACGGTGCATGCCTGTACTCTCAGCTACTCAGGAGGCTGAGGTTGGAGGATCTCTGAGCCCAGGGAGACTGAGGCTGCAGTGAGCCATGATCACACCACTGCACTCCAGCCTGGGGGACAGAGTGAGACCCTGTCTCN | pathogenic | 177,878 |
The genetic variant at chromosome 11, position 64807592, affecting gene MEN1 (menin 1): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Multiple_endocrine_neoplasia,_type_1'] | CCTAATCCCGTACATGCAGCCCCCATGGCCTGTGGAAGGGAGCCCTGTCCAGGTGGGAGGCTGGACACAGGCTGGAGCTCCAGCCTTTCACCTGGCTTTGCTCCCCCGGCCGCTCCTCGCCCGCCTCCAGCAAGCTGGCTGCCTCCTTCAGCAGGTTGGGGATGACATCATTGGCTACTTCAAAGAACTCCTTGTAGATCTCCTCGTCTTCCCGGCAGTAGTTGTAGCTGTGAGAGCAGTGGGGTCTCTGTAGGGTCTGAAGGGGTCTCACCATCGGGGGTAGCCCCAGGGACCTGGCGGGGGATGGAGCCCCCAGGGGCTGGGGGAGTAGGTGGGGTCCTCACTGCAAAATGATGCTGTCTGGGTCAGCCCAGAGGAAGAAAGCAAGAATGAGGAGGGGGGCATGGGGCCGAGGGTGGAAGTCCCACTGCTGGATGATGGTGGTTAAACATTGGAGATTTGAGACTGTTCTGAGAAAAAAAAAATTAGGAGGAGAGGGGAGGGAGGGAAAGATGTGACACCTTAATCAGGGTCCCTACCTCCTGGGTAATGGTGGCCTTGCTGCCTAGGGACTGGATGGAAAGGGGATGGGGCGTGGGAGCCAGGCCTCAGTCCTGGACGAGGGTGGTTGGAAACTGATGGAGGGGAAGAAAGGACAGGCTGCAGGCCCTAGTAGGGGGATCCTCACTCCTGGATGACAGTGGCCGTGTCCGCCCAGGCCTGCAGGGCTTCCCGCACATTGCGGTTGCGACAGTGGTAGCCAGCCAGGTACATGTAGGGGTAGATGTGTTCATCCCGATAGTAGGTCTTGGCTGAGGCAATGCCCTGGATGGAGGTGAGGCAGAGGATCCTCAGGGAGGCAGCCCCAGCTGCCCTGCTGGCACAAATGCCCCACCAGGGCACACCCAGAAGGGGCCACAGGAAGATCCCAGGGAGTCCTCTCCATCTCCACTCCCACCTCCACTCGCTGCCAGCCCTTCTACCTGGTCTCCTCCCTGGGTCTACAGGACTGCTGGCTGAGGCCTGGGGCAGACTGCAGGGGTGGGGCCTGCCCTCCGAGCTCAGGGCCCTTCTCTTTCTCAGACACTCTTCTACACATCACCAAAGACTTTCAAGCCCAGCCCAATGGCCCTCCTCCCCACCTACACCCACCAAGTGAACACCCCCTCTTCATCAGTGCTCCTGCCACATTTGACCTCTGTTATACTCCAGGAAGGACAGTAAGCAGTGGCAGAAAAGGCAGGGCTGAGGGGACAAATGCAGCCCCTGCCACTCCCAGGCTGGGGAACCCTGGACACCCCTCAGACAGCCCTGACTGAACTGATTCTGCACACAGTTGACACAAAGTGAGACTGGATGGGCGATACCCCCCAACACACAAAGTTCTCTTCTCATCTGCCCAGATGAGGGCCCCTGCCTCAGCCACTGTTAGGGTCTCCCTTCTGCACCCTCCTTAGATGCCCCCACCTTGTGGTAGAGGGTGAGTGGGTCTGGCCGGCCAGGGGTGGGCTCCAGCTCCTCTAGATCTGCCAGGTTCCCTAAGGCCATGGGGTACCTAGGAAAGGATCATAATTCAGGCTGCCACCCAGCCCCCCGGCCTCACCAGGCGCAGCCTGGCCACTTCCCTCTACTGACCTTTCCAGATGTCCCAGGTCATAGAGCAGCCAGAGCAGCTTCTAGGAGCCGAAGGAGAGAGTTATGAGCCACGGAACAGGGAGGAGAACGGGTCCTTAGCCTATCGGGCAGAGGTGGGGGTCAGAACCAACAGGGACCACCCACCATGTGGAAGGGCCAAAATTCTGGGACCAGCCCTTTAATGGAGTCAAAGCAATTTCACATCTCAATTCTACTCTCCCAAGAGCCCTGGGAAAGGCCAGGCCAGGAATTACTAACCCATTTTTCCAGGAGGGGAAGCTGAAGCTCAGGAAGGGAAAGTGCCCCTGCCCAGGGTCCCACAGCAAGTCAAGTCTGGCCTAGCCCAGTCCTGCCCCATTGGCTCAGCCCTCACCTGCTGCAGCTGCAGAAGCTCCAGCGAGTCGGTGTGCAGGTCAATGGAAGGGTTGATGGCACACACCATGAACGCCACCTCCATCTTGCGGTCACAGCGCATGTATGATCCTTTCAGGTACAGCCAGCTCTTAGGGGGGGATGAGATCATTATGTCTCATGATGGCCCACCCTGTGCCTGCTTCAGGGAATGACAGCCAGGAAAAGGGGCTCTTCTGTCTTCCCTTCCTATGTGGGTGGTGATGGGAAGAAAGGGGTGTGGCCCAAGAAAATGGAGTCCCTTGGGTGGCTTGGGCTACTACAGTATGAAGGGGACAAGGCTGGGGGGAGGGAACAATACCCGCTCAGCCACACCGGCATTGACTGTCTGGCCCCTGCGGTCCTCGTTGCCCTTGCCGTGCCAGGTGACCTCAGCTGTCTGCTCCCCATTGGGCCCAAACACTACCCAGGCATGATCCTCAGACAGGGCGAGGTGGACATCCCGGAGACCCAGGGCCTGGCAGGCCCCAACCACAGCAAAGGCCACACCGGAGCTGTCCAATTTGGTGCCTGTGGAAGGGGGAGGTAATGAAAGAGGGTCCTCTGTGCTTTAACATGGGGAAAGGGGGCCAGGTAGTGATGGGCCACACTCCCTCCCACTCCCTTTCCAAGCCTGTGACCCAACCTCAGATTCTCCTGCCCACTATCCCTCCATCCCTTCCCTCCCACGTGTTCAAAGACTCTCTCCCTGTTTACACCCTCTATGTCCAACAAGATACCTTTCTGGATATCCTGTAGCTGACCCAGCCTTTGGCCCTACCTCGTCTTTCTCTGCAACTCTATTATATATTCTATGGATTTAGGGATTCCATTTTACTGCACTTACTAGGTTAAAACAGGAATGGCAAAAACAGGACGCTGGCCAACACTCTCTGGCTATACACCCACCAACAAATAACCCTCATTTATCTCTGCACTCTTTTCCTGCTAAGCTGAGAAGCAGCCTCTGATTCCTTCTCAATATGGCACACCAGGATGGGATTGCCAGTCAACCGGGCTTGGTGCAAAGCTCTTTGCAAGCCCTGACTCTTAAGCCTTTTGAGGTCAAGCCCCTTCTCTGTCTCAAACATTTTTGACCAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCTCGTCTCTACTAAAAATCCAAAAAAAAATTAGCCAGGCATGGTGGCAGGCTCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGGCAGGAGAATGGCATGAAAGCAGGAGGCAGAGCTTGCAGTGAGCCGAGATTGCACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACGCCGTCTGAAAAAAAAAAAAAAATTTTCATAGGCCACCAGTTGCGGTGGCTCACACCTGTAATCCCAGCATTTGGGAGACTGAGGCGGGCAGATCACTTGAGCCCAAGAGTTCAAGACCAGTCTGGGCCACATAGTGAGACACCATCTCTACAAAAAAAATACAAAAAATTAACCAGCACCACGGTGCATGCCTGTACTCTCAGCTACTCAGGAGGCTGAGGTTGGAGGATCTCTGAGCCCAGGGAGACTGAGGCTGCAGTGAGCCATGATCACACCACTGCACTCCAGCCTGGGGGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAATCTTCATAGCCATTATTTTGTTTAACTGCCTCAAATGCAGCCCAATTTCATCTTCTTGCCCCCTAAATCTGCTGCCGCCCTCTGTGTCTCATGCTTAGAACTCCTGTAGCTGTTCAGTGGCAAGGGTGGGGGTGCTGAGGGGGCAGAGGTGAGGTTGATGATTTGGAGCCAAGTGATCAGGCTTCACTTCCAGCCCTGCCATGCCGTGTGTGACTTTGGCATATCATTTCCCCTCTCTGGGCTTCAGTTTCCCAACTGCAAAGAGGAAAATAACACCTGCCGAACCTCACAAGGCTTACAGTTCTTAAAAGGGTTCTGTAAACCATGGAGGGTTTTGAAGAAGTGGGTCATGGATA | CCTAATCCCGTACATGCAGCCCCCATGGCCTGTGGAAGGGAGCCCTGTCCAGGTGGGAGGCTGGACACAGGCTGGAGCTCCAGCCTTTCACCTGGCTTTGCTCCCCCGGCCGCTCCTCGCCCGCCTCCAGCAAGCTGGCTGCCTCCTTCAGCAGGTTGGGGATGACATCATTGGCTACTTCAAAGAACTCCTTGTAGATCTCCTCGTCTTCCCGGCAGTAGTTGTAGCTGTGAGAGCAGTGGGGTCTCTGTAGGGTCTGAAGGGGTCTCACCATCGGGGGTAGCCCCAGGGACCTGGCGGGGGATGGAGCCCCCAGGGGCTGGGGGAGTAGGTGGGGTCCTCACTGCAAAATGATGCTGTCTGGGTCAGCCCAGAGGAAGAAAGCAAGAATGAGGAGGGGGGCATGGGGCCGAGGGTGGAAGTCCCACTGCTGGATGATGGTGGTTAAACATTGGAGATTTGAGACTGTTCTGAGAAAAAAAAAATTAGGAGGAGAGGGGAGGGAGGGAAAGATGTGACACCTTAATCAGGGTCCCTACCTCCTGGGTAATGGTGGCCTTGCTGCCTAGGGACTGGATGGAAAGGGGATGGGGCGTGGGAGCCAGGCCTCAGTCCTGGACGAGGGTGGTTGGAAACTGATGGAGGGGAAGAAAGGACAGGCTGCAGGCCCTAGTAGGGGGATCCTCACTCCTGGATGACAGTGGCCGTGTCCGCCCAGGCCTGCAGGGCTTCCCGCACATTGCGGTTGCGACAGTGGTAGCCAGCCAGGTACATGTAGGGGTAGATGTGTTCATCCCGATAGTAGGTCTTGGCTGAGGCAATGCCCTGGATGGAGGTGAGGCAGAGGATCCTCAGGGAGGCAGCCCCAGCTGCCCTGCTGGCACAAATGCCCCACCAGGGCACACCCAGAAGGGGCCACAGGAAGATCCCAGGGAGTCCTCTCCATCTCCACTCCCACCTCCACTCGCTGCCAGCCCTTCTACCTGGTCTCCTCCCTGGGTCTACAGGACTGCTGGCTGAGGCCTGGGGCAGACTGCAGGGGTGGGGCCTGCCCTCCGAGCTCAGGGCCCTTCTCTTTCTCAGACACTCTTCTACACATCACCAAAGACTTTCAAGCCCAGCCCAATGGCCCTCCTCCCCACCTACACCCACCAAGTGAACACCCCCTCTTCATCAGTGCTCCTGCCACATTTGACCTCTGTTATACTCCAGGAAGGACAGTAAGCAGTGGCAGAAAAGGCAGGGCTGAGGGGACAAATGCAGCCCCTGCCACTCCCAGGCTGGGGAACCCTGGACACCCCTCAGACAGCCCTGACTGAACTGATTCTGCACACAGTTGACACAAAGTGAGACTGGATGGGCGATACCCCCCAACACACAAAGTTCTCTTCTCATCTGCCCAGATGAGGGCCCCTGCCTCAGCCACTGTTAGGGTCTCCCTTCTGCACCCTCCTTAGATGCCCCCACCTTGTGGTAGAGGGTGAGTGGGTCTGGCCGGCCAGGGGTGGGCTCCAGCTCCTCTAGATCTGCCAGGTTCCCTAAGGCCATGGGGTACCTAGGAAAGGATCATAATTCAGGCTGCCACCCAGCCCCCCGGCCTCACCAGGCGCAGCCTGGCCACTTCCCTCTACTGACCTTTCCAGATGTCCCAGGTCATAGAGCAGCCAGAGCAGCTTCTAGGAGCCGAAGGAGAGAGTTATGAGCCACGGAACAGGGAGGAGAACGGGTCCTTAGCCTATCGGGCAGAGGTGGGGGTCAGAACCAACAGGGACCACCCACCATGTGGAAGGGCCAAAATTCTGGGACCAGCCCTTTAATGGAGTCAAAGCAATTTCACATCTCAATTCTACTCTCCCAAGAGCCCTGGGAAAGGCCAGGCCAGGAATTACTAACCCATTTTTCCAGGAGGGGAAGCTGAAGCTCAGGAAGGGAAAGTGCCCCTGCCCAGGGTCCCACAGCAAGTCAAGTCTGGCCTAGCCCAGTCCTGCCCCATTGGCTCAGCCCTCACCTGCTGCAGCTGCAGAAGCTCCAGCGAGTCGGTGTGCAGGTAATGGAAGGGTTGATGGCACACACCATGAACGCCACCTCCATCTTGCGGTCACAGCGCATGTATGATCCTTTCAGGTACAGCCAGCTCTTAGGGGGGGATGAGATCATTATGTCTCATGATGGCCCACCCTGTGCCTGCTTCAGGGAATGACAGCCAGGAAAAGGGGCTCTTCTGTCTTCCCTTCCTATGTGGGTGGTGATGGGAAGAAAGGGGTGTGGCCCAAGAAAATGGAGTCCCTTGGGTGGCTTGGGCTACTACAGTATGAAGGGGACAAGGCTGGGGGGAGGGAACAATACCCGCTCAGCCACACCGGCATTGACTGTCTGGCCCCTGCGGTCCTCGTTGCCCTTGCCGTGCCAGGTGACCTCAGCTGTCTGCTCCCCATTGGGCCCAAACACTACCCAGGCATGATCCTCAGACAGGGCGAGGTGGACATCCCGGAGACCCAGGGCCTGGCAGGCCCCAACCACAGCAAAGGCCACACCGGAGCTGTCCAATTTGGTGCCTGTGGAAGGGGGAGGTAATGAAAGAGGGTCCTCTGTGCTTTAACATGGGGAAAGGGGGCCAGGTAGTGATGGGCCACACTCCCTCCCACTCCCTTTCCAAGCCTGTGACCCAACCTCAGATTCTCCTGCCCACTATCCCTCCATCCCTTCCCTCCCACGTGTTCAAAGACTCTCTCCCTGTTTACACCCTCTATGTCCAACAAGATACCTTTCTGGATATCCTGTAGCTGACCCAGCCTTTGGCCCTACCTCGTCTTTCTCTGCAACTCTATTATATATTCTATGGATTTAGGGATTCCATTTTACTGCACTTACTAGGTTAAAACAGGAATGGCAAAAACAGGACGCTGGCCAACACTCTCTGGCTATACACCCACCAACAAATAACCCTCATTTATCTCTGCACTCTTTTCCTGCTAAGCTGAGAAGCAGCCTCTGATTCCTTCTCAATATGGCACACCAGGATGGGATTGCCAGTCAACCGGGCTTGGTGCAAAGCTCTTTGCAAGCCCTGACTCTTAAGCCTTTTGAGGTCAAGCCCCTTCTCTGTCTCAAACATTTTTGACCAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCTCGTCTCTACTAAAAATCCAAAAAAAAATTAGCCAGGCATGGTGGCAGGCTCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGGCAGGAGAATGGCATGAAAGCAGGAGGCAGAGCTTGCAGTGAGCCGAGATTGCACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACGCCGTCTGAAAAAAAAAAAAAAATTTTCATAGGCCACCAGTTGCGGTGGCTCACACCTGTAATCCCAGCATTTGGGAGACTGAGGCGGGCAGATCACTTGAGCCCAAGAGTTCAAGACCAGTCTGGGCCACATAGTGAGACACCATCTCTACAAAAAAAATACAAAAAATTAACCAGCACCACGGTGCATGCCTGTACTCTCAGCTACTCAGGAGGCTGAGGTTGGAGGATCTCTGAGCCCAGGGAGACTGAGGCTGCAGTGAGCCATGATCACACCACTGCACTCCAGCCTGGGGGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAATCTTCATAGCCATTATTTTGTTTAACTGCCTCAAATGCAGCCCAATTTCATCTTCTTGCCCCCTAAATCTGCTGCCGCCCTCTGTGTCTCATGCTTAGAACTCCTGTAGCTGTTCAGTGGCAAGGGTGGGGGTGCTGAGGGGGCAGAGGTGAGGTTGATGATTTGGAGCCAAGTGATCAGGCTTCACTTCCAGCCCTGCCATGCCGTGTGTGACTTTGGCATATCATTTCCCCTCTCTGGGCTTCAGTTTCCCAACTGCAAAGAGGAAAATAACACCTGCCGAACCTCACAAGGCTTACAGTTCTTAAAAGGGTTCTGTAAACCATGGAGGGTTTTGAAGAAGTGGGTCATGGATAN | pathogenic | 177,902 |
Does the variant on chromosome 11 at location 64807610 affecting gene MEN1 (menin 1) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Multiple_endocrine_neoplasia,_type_1'] | GCCCCCATGGCCTGTGGAAGGGAGCCCTGTCCAGGTGGGAGGCTGGACACAGGCTGGAGCTCCAGCCTTTCACCTGGCTTTGCTCCCCCGGCCGCTCCTCGCCCGCCTCCAGCAAGCTGGCTGCCTCCTTCAGCAGGTTGGGGATGACATCATTGGCTACTTCAAAGAACTCCTTGTAGATCTCCTCGTCTTCCCGGCAGTAGTTGTAGCTGTGAGAGCAGTGGGGTCTCTGTAGGGTCTGAAGGGGTCTCACCATCGGGGGTAGCCCCAGGGACCTGGCGGGGGATGGAGCCCCCAGGGGCTGGGGGAGTAGGTGGGGTCCTCACTGCAAAATGATGCTGTCTGGGTCAGCCCAGAGGAAGAAAGCAAGAATGAGGAGGGGGGCATGGGGCCGAGGGTGGAAGTCCCACTGCTGGATGATGGTGGTTAAACATTGGAGATTTGAGACTGTTCTGAGAAAAAAAAAATTAGGAGGAGAGGGGAGGGAGGGAAAGATGTGACACCTTAATCAGGGTCCCTACCTCCTGGGTAATGGTGGCCTTGCTGCCTAGGGACTGGATGGAAAGGGGATGGGGCGTGGGAGCCAGGCCTCAGTCCTGGACGAGGGTGGTTGGAAACTGATGGAGGGGAAGAAAGGACAGGCTGCAGGCCCTAGTAGGGGGATCCTCACTCCTGGATGACAGTGGCCGTGTCCGCCCAGGCCTGCAGGGCTTCCCGCACATTGCGGTTGCGACAGTGGTAGCCAGCCAGGTACATGTAGGGGTAGATGTGTTCATCCCGATAGTAGGTCTTGGCTGAGGCAATGCCCTGGATGGAGGTGAGGCAGAGGATCCTCAGGGAGGCAGCCCCAGCTGCCCTGCTGGCACAAATGCCCCACCAGGGCACACCCAGAAGGGGCCACAGGAAGATCCCAGGGAGTCCTCTCCATCTCCACTCCCACCTCCACTCGCTGCCAGCCCTTCTACCTGGTCTCCTCCCTGGGTCTACAGGACTGCTGGCTGAGGCCTGGGGCAGACTGCAGGGGTGGGGCCTGCCCTCCGAGCTCAGGGCCCTTCTCTTTCTCAGACACTCTTCTACACATCACCAAAGACTTTCAAGCCCAGCCCAATGGCCCTCCTCCCCACCTACACCCACCAAGTGAACACCCCCTCTTCATCAGTGCTCCTGCCACATTTGACCTCTGTTATACTCCAGGAAGGACAGTAAGCAGTGGCAGAAAAGGCAGGGCTGAGGGGACAAATGCAGCCCCTGCCACTCCCAGGCTGGGGAACCCTGGACACCCCTCAGACAGCCCTGACTGAACTGATTCTGCACACAGTTGACACAAAGTGAGACTGGATGGGCGATACCCCCCAACACACAAAGTTCTCTTCTCATCTGCCCAGATGAGGGCCCCTGCCTCAGCCACTGTTAGGGTCTCCCTTCTGCACCCTCCTTAGATGCCCCCACCTTGTGGTAGAGGGTGAGTGGGTCTGGCCGGCCAGGGGTGGGCTCCAGCTCCTCTAGATCTGCCAGGTTCCCTAAGGCCATGGGGTACCTAGGAAAGGATCATAATTCAGGCTGCCACCCAGCCCCCCGGCCTCACCAGGCGCAGCCTGGCCACTTCCCTCTACTGACCTTTCCAGATGTCCCAGGTCATAGAGCAGCCAGAGCAGCTTCTAGGAGCCGAAGGAGAGAGTTATGAGCCACGGAACAGGGAGGAGAACGGGTCCTTAGCCTATCGGGCAGAGGTGGGGGTCAGAACCAACAGGGACCACCCACCATGTGGAAGGGCCAAAATTCTGGGACCAGCCCTTTAATGGAGTCAAAGCAATTTCACATCTCAATTCTACTCTCCCAAGAGCCCTGGGAAAGGCCAGGCCAGGAATTACTAACCCATTTTTCCAGGAGGGGAAGCTGAAGCTCAGGAAGGGAAAGTGCCCCTGCCCAGGGTCCCACAGCAAGTCAAGTCTGGCCTAGCCCAGTCCTGCCCCATTGGCTCAGCCCTCACCTGCTGCAGCTGCAGAAGCTCCAGCGAGTCGGTGTGCAGGTCAATGGAAGGGTTGATGGCACACACCATGAACGCCACCTCCATCTTGCGGTCACAGCGCATGTATGATCCTTTCAGGTACAGCCAGCTCTTAGGGGGGGATGAGATCATTATGTCTCATGATGGCCCACCCTGTGCCTGCTTCAGGGAATGACAGCCAGGAAAAGGGGCTCTTCTGTCTTCCCTTCCTATGTGGGTGGTGATGGGAAGAAAGGGGTGTGGCCCAAGAAAATGGAGTCCCTTGGGTGGCTTGGGCTACTACAGTATGAAGGGGACAAGGCTGGGGGGAGGGAACAATACCCGCTCAGCCACACCGGCATTGACTGTCTGGCCCCTGCGGTCCTCGTTGCCCTTGCCGTGCCAGGTGACCTCAGCTGTCTGCTCCCCATTGGGCCCAAACACTACCCAGGCATGATCCTCAGACAGGGCGAGGTGGACATCCCGGAGACCCAGGGCCTGGCAGGCCCCAACCACAGCAAAGGCCACACCGGAGCTGTCCAATTTGGTGCCTGTGGAAGGGGGAGGTAATGAAAGAGGGTCCTCTGTGCTTTAACATGGGGAAAGGGGGCCAGGTAGTGATGGGCCACACTCCCTCCCACTCCCTTTCCAAGCCTGTGACCCAACCTCAGATTCTCCTGCCCACTATCCCTCCATCCCTTCCCTCCCACGTGTTCAAAGACTCTCTCCCTGTTTACACCCTCTATGTCCAACAAGATACCTTTCTGGATATCCTGTAGCTGACCCAGCCTTTGGCCCTACCTCGTCTTTCTCTGCAACTCTATTATATATTCTATGGATTTAGGGATTCCATTTTACTGCACTTACTAGGTTAAAACAGGAATGGCAAAAACAGGACGCTGGCCAACACTCTCTGGCTATACACCCACCAACAAATAACCCTCATTTATCTCTGCACTCTTTTCCTGCTAAGCTGAGAAGCAGCCTCTGATTCCTTCTCAATATGGCACACCAGGATGGGATTGCCAGTCAACCGGGCTTGGTGCAAAGCTCTTTGCAAGCCCTGACTCTTAAGCCTTTTGAGGTCAAGCCCCTTCTCTGTCTCAAACATTTTTGACCAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCTCGTCTCTACTAAAAATCCAAAAAAAAATTAGCCAGGCATGGTGGCAGGCTCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGGCAGGAGAATGGCATGAAAGCAGGAGGCAGAGCTTGCAGTGAGCCGAGATTGCACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACGCCGTCTGAAAAAAAAAAAAAAATTTTCATAGGCCACCAGTTGCGGTGGCTCACACCTGTAATCCCAGCATTTGGGAGACTGAGGCGGGCAGATCACTTGAGCCCAAGAGTTCAAGACCAGTCTGGGCCACATAGTGAGACACCATCTCTACAAAAAAAATACAAAAAATTAACCAGCACCACGGTGCATGCCTGTACTCTCAGCTACTCAGGAGGCTGAGGTTGGAGGATCTCTGAGCCCAGGGAGACTGAGGCTGCAGTGAGCCATGATCACACCACTGCACTCCAGCCTGGGGGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAATCTTCATAGCCATTATTTTGTTTAACTGCCTCAAATGCAGCCCAATTTCATCTTCTTGCCCCCTAAATCTGCTGCCGCCCTCTGTGTCTCATGCTTAGAACTCCTGTAGCTGTTCAGTGGCAAGGGTGGGGGTGCTGAGGGGGCAGAGGTGAGGTTGATGATTTGGAGCCAAGTGATCAGGCTTCACTTCCAGCCCTGCCATGCCGTGTGTGACTTTGGCATATCATTTCCCCTCTCTGGGCTTCAGTTTCCCAACTGCAAAGAGGAAAATAACACCTGCCGAACCTCACAAGGCTTACAGTTCTTAAAAGGGTTCTGTAAACCATGGAGGGTTTTGAAGAAGTGGGTCATGGATAAGATTCCCACCTACTGGG | GCCCCCATGGCCTGTGGAAGGGAGCCCTGTCCAGGTGGGAGGCTGGACACAGGCTGGAGCTCCAGCCTTTCACCTGGCTTTGCTCCCCCGGCCGCTCCTCGCCCGCCTCCAGCAAGCTGGCTGCCTCCTTCAGCAGGTTGGGGATGACATCATTGGCTACTTCAAAGAACTCCTTGTAGATCTCCTCGTCTTCCCGGCAGTAGTTGTAGCTGTGAGAGCAGTGGGGTCTCTGTAGGGTCTGAAGGGGTCTCACCATCGGGGGTAGCCCCAGGGACCTGGCGGGGGATGGAGCCCCCAGGGGCTGGGGGAGTAGGTGGGGTCCTCACTGCAAAATGATGCTGTCTGGGTCAGCCCAGAGGAAGAAAGCAAGAATGAGGAGGGGGGCATGGGGCCGAGGGTGGAAGTCCCACTGCTGGATGATGGTGGTTAAACATTGGAGATTTGAGACTGTTCTGAGAAAAAAAAAATTAGGAGGAGAGGGGAGGGAGGGAAAGATGTGACACCTTAATCAGGGTCCCTACCTCCTGGGTAATGGTGGCCTTGCTGCCTAGGGACTGGATGGAAAGGGGATGGGGCGTGGGAGCCAGGCCTCAGTCCTGGACGAGGGTGGTTGGAAACTGATGGAGGGGAAGAAAGGACAGGCTGCAGGCCCTAGTAGGGGGATCCTCACTCCTGGATGACAGTGGCCGTGTCCGCCCAGGCCTGCAGGGCTTCCCGCACATTGCGGTTGCGACAGTGGTAGCCAGCCAGGTACATGTAGGGGTAGATGTGTTCATCCCGATAGTAGGTCTTGGCTGAGGCAATGCCCTGGATGGAGGTGAGGCAGAGGATCCTCAGGGAGGCAGCCCCAGCTGCCCTGCTGGCACAAATGCCCCACCAGGGCACACCCAGAAGGGGCCACAGGAAGATCCCAGGGAGTCCTCTCCATCTCCACTCCCACCTCCACTCGCTGCCAGCCCTTCTACCTGGTCTCCTCCCTGGGTCTACAGGACTGCTGGCTGAGGCCTGGGGCAGACTGCAGGGGTGGGGCCTGCCCTCCGAGCTCAGGGCCCTTCTCTTTCTCAGACACTCTTCTACACATCACCAAAGACTTTCAAGCCCAGCCCAATGGCCCTCCTCCCCACCTACACCCACCAAGTGAACACCCCCTCTTCATCAGTGCTCCTGCCACATTTGACCTCTGTTATACTCCAGGAAGGACAGTAAGCAGTGGCAGAAAAGGCAGGGCTGAGGGGACAAATGCAGCCCCTGCCACTCCCAGGCTGGGGAACCCTGGACACCCCTCAGACAGCCCTGACTGAACTGATTCTGCACACAGTTGACACAAAGTGAGACTGGATGGGCGATACCCCCCAACACACAAAGTTCTCTTCTCATCTGCCCAGATGAGGGCCCCTGCCTCAGCCACTGTTAGGGTCTCCCTTCTGCACCCTCCTTAGATGCCCCCACCTTGTGGTAGAGGGTGAGTGGGTCTGGCCGGCCAGGGGTGGGCTCCAGCTCCTCTAGATCTGCCAGGTTCCCTAAGGCCATGGGGTACCTAGGAAAGGATCATAATTCAGGCTGCCACCCAGCCCCCCGGCCTCACCAGGCGCAGCCTGGCCACTTCCCTCTACTGACCTTTCCAGATGTCCCAGGTCATAGAGCAGCCAGAGCAGCTTCTAGGAGCCGAAGGAGAGAGTTATGAGCCACGGAACAGGGAGGAGAACGGGTCCTTAGCCTATCGGGCAGAGGTGGGGGTCAGAACCAACAGGGACCACCCACCATGTGGAAGGGCCAAAATTCTGGGACCAGCCCTTTAATGGAGTCAAAGCAATTTCACATCTCAATTCTACTCTCCCAAGAGCCCTGGGAAAGGCCAGGCCAGGAATTACTAACCCATTTTTCCAGGAGGGGAAGCTGAAGCTCAGGAAGGGAAAGTGCCCCTGCCCAGGGTCCCACAGCAAGTCAAGTCTGGCCTAGCCCAGTCCTGCCCCATTGGCTCAGCCCTCACCTGCTGCAGCTGCAGAAGCTCCAGCGAGTCGGTGTGCAGGTCAATGGAAGGGTTGATGGCACACCATGAACGCCACCTCCATCTTGCGGTCACAGCGCATGTATGATCCTTTCAGGTACAGCCAGCTCTTAGGGGGGGATGAGATCATTATGTCTCATGATGGCCCACCCTGTGCCTGCTTCAGGGAATGACAGCCAGGAAAAGGGGCTCTTCTGTCTTCCCTTCCTATGTGGGTGGTGATGGGAAGAAAGGGGTGTGGCCCAAGAAAATGGAGTCCCTTGGGTGGCTTGGGCTACTACAGTATGAAGGGGACAAGGCTGGGGGGAGGGAACAATACCCGCTCAGCCACACCGGCATTGACTGTCTGGCCCCTGCGGTCCTCGTTGCCCTTGCCGTGCCAGGTGACCTCAGCTGTCTGCTCCCCATTGGGCCCAAACACTACCCAGGCATGATCCTCAGACAGGGCGAGGTGGACATCCCGGAGACCCAGGGCCTGGCAGGCCCCAACCACAGCAAAGGCCACACCGGAGCTGTCCAATTTGGTGCCTGTGGAAGGGGGAGGTAATGAAAGAGGGTCCTCTGTGCTTTAACATGGGGAAAGGGGGCCAGGTAGTGATGGGCCACACTCCCTCCCACTCCCTTTCCAAGCCTGTGACCCAACCTCAGATTCTCCTGCCCACTATCCCTCCATCCCTTCCCTCCCACGTGTTCAAAGACTCTCTCCCTGTTTACACCCTCTATGTCCAACAAGATACCTTTCTGGATATCCTGTAGCTGACCCAGCCTTTGGCCCTACCTCGTCTTTCTCTGCAACTCTATTATATATTCTATGGATTTAGGGATTCCATTTTACTGCACTTACTAGGTTAAAACAGGAATGGCAAAAACAGGACGCTGGCCAACACTCTCTGGCTATACACCCACCAACAAATAACCCTCATTTATCTCTGCACTCTTTTCCTGCTAAGCTGAGAAGCAGCCTCTGATTCCTTCTCAATATGGCACACCAGGATGGGATTGCCAGTCAACCGGGCTTGGTGCAAAGCTCTTTGCAAGCCCTGACTCTTAAGCCTTTTGAGGTCAAGCCCCTTCTCTGTCTCAAACATTTTTGACCAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCTCGTCTCTACTAAAAATCCAAAAAAAAATTAGCCAGGCATGGTGGCAGGCTCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGGCAGGAGAATGGCATGAAAGCAGGAGGCAGAGCTTGCAGTGAGCCGAGATTGCACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACGCCGTCTGAAAAAAAAAAAAAAATTTTCATAGGCCACCAGTTGCGGTGGCTCACACCTGTAATCCCAGCATTTGGGAGACTGAGGCGGGCAGATCACTTGAGCCCAAGAGTTCAAGACCAGTCTGGGCCACATAGTGAGACACCATCTCTACAAAAAAAATACAAAAAATTAACCAGCACCACGGTGCATGCCTGTACTCTCAGCTACTCAGGAGGCTGAGGTTGGAGGATCTCTGAGCCCAGGGAGACTGAGGCTGCAGTGAGCCATGATCACACCACTGCACTCCAGCCTGGGGGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAATCTTCATAGCCATTATTTTGTTTAACTGCCTCAAATGCAGCCCAATTTCATCTTCTTGCCCCCTAAATCTGCTGCCGCCCTCTGTGTCTCATGCTTAGAACTCCTGTAGCTGTTCAGTGGCAAGGGTGGGGGTGCTGAGGGGGCAGAGGTGAGGTTGATGATTTGGAGCCAAGTGATCAGGCTTCACTTCCAGCCCTGCCATGCCGTGTGTGACTTTGGCATATCATTTCCCCTCTCTGGGCTTCAGTTTCCCAACTGCAAAGAGGAAAATAACACCTGCCGAACCTCACAAGGCTTACAGTTCTTAAAAGGGTTCTGTAAACCATGGAGGGTTTTGAAGAAGTGGGTCATGGATAAGATTCCCACCTACTGGGNN | pathogenic | 177,906 |
Clinically, how would you classify the variant at chromosome 11, position 64807649, gene MEN1 (menin 1): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Multiple_endocrine_neoplasia,_type_1'] | AGGCTGGACACAGGCTGGAGCTCCAGCCTTTCACCTGGCTTTGCTCCCCCGGCCGCTCCTCGCCCGCCTCCAGCAAGCTGGCTGCCTCCTTCAGCAGGTTGGGGATGACATCATTGGCTACTTCAAAGAACTCCTTGTAGATCTCCTCGTCTTCCCGGCAGTAGTTGTAGCTGTGAGAGCAGTGGGGTCTCTGTAGGGTCTGAAGGGGTCTCACCATCGGGGGTAGCCCCAGGGACCTGGCGGGGGATGGAGCCCCCAGGGGCTGGGGGAGTAGGTGGGGTCCTCACTGCAAAATGATGCTGTCTGGGTCAGCCCAGAGGAAGAAAGCAAGAATGAGGAGGGGGGCATGGGGCCGAGGGTGGAAGTCCCACTGCTGGATGATGGTGGTTAAACATTGGAGATTTGAGACTGTTCTGAGAAAAAAAAAATTAGGAGGAGAGGGGAGGGAGGGAAAGATGTGACACCTTAATCAGGGTCCCTACCTCCTGGGTAATGGTGGCCTTGCTGCCTAGGGACTGGATGGAAAGGGGATGGGGCGTGGGAGCCAGGCCTCAGTCCTGGACGAGGGTGGTTGGAAACTGATGGAGGGGAAGAAAGGACAGGCTGCAGGCCCTAGTAGGGGGATCCTCACTCCTGGATGACAGTGGCCGTGTCCGCCCAGGCCTGCAGGGCTTCCCGCACATTGCGGTTGCGACAGTGGTAGCCAGCCAGGTACATGTAGGGGTAGATGTGTTCATCCCGATAGTAGGTCTTGGCTGAGGCAATGCCCTGGATGGAGGTGAGGCAGAGGATCCTCAGGGAGGCAGCCCCAGCTGCCCTGCTGGCACAAATGCCCCACCAGGGCACACCCAGAAGGGGCCACAGGAAGATCCCAGGGAGTCCTCTCCATCTCCACTCCCACCTCCACTCGCTGCCAGCCCTTCTACCTGGTCTCCTCCCTGGGTCTACAGGACTGCTGGCTGAGGCCTGGGGCAGACTGCAGGGGTGGGGCCTGCCCTCCGAGCTCAGGGCCCTTCTCTTTCTCAGACACTCTTCTACACATCACCAAAGACTTTCAAGCCCAGCCCAATGGCCCTCCTCCCCACCTACACCCACCAAGTGAACACCCCCTCTTCATCAGTGCTCCTGCCACATTTGACCTCTGTTATACTCCAGGAAGGACAGTAAGCAGTGGCAGAAAAGGCAGGGCTGAGGGGACAAATGCAGCCCCTGCCACTCCCAGGCTGGGGAACCCTGGACACCCCTCAGACAGCCCTGACTGAACTGATTCTGCACACAGTTGACACAAAGTGAGACTGGATGGGCGATACCCCCCAACACACAAAGTTCTCTTCTCATCTGCCCAGATGAGGGCCCCTGCCTCAGCCACTGTTAGGGTCTCCCTTCTGCACCCTCCTTAGATGCCCCCACCTTGTGGTAGAGGGTGAGTGGGTCTGGCCGGCCAGGGGTGGGCTCCAGCTCCTCTAGATCTGCCAGGTTCCCTAAGGCCATGGGGTACCTAGGAAAGGATCATAATTCAGGCTGCCACCCAGCCCCCCGGCCTCACCAGGCGCAGCCTGGCCACTTCCCTCTACTGACCTTTCCAGATGTCCCAGGTCATAGAGCAGCCAGAGCAGCTTCTAGGAGCCGAAGGAGAGAGTTATGAGCCACGGAACAGGGAGGAGAACGGGTCCTTAGCCTATCGGGCAGAGGTGGGGGTCAGAACCAACAGGGACCACCCACCATGTGGAAGGGCCAAAATTCTGGGACCAGCCCTTTAATGGAGTCAAAGCAATTTCACATCTCAATTCTACTCTCCCAAGAGCCCTGGGAAAGGCCAGGCCAGGAATTACTAACCCATTTTTCCAGGAGGGGAAGCTGAAGCTCAGGAAGGGAAAGTGCCCCTGCCCAGGGTCCCACAGCAAGTCAAGTCTGGCCTAGCCCAGTCCTGCCCCATTGGCTCAGCCCTCACCTGCTGCAGCTGCAGAAGCTCCAGCGAGTCGGTGTGCAGGTCAATGGAAGGGTTGATGGCACACACCATGAACGCCACCTCCATCTTGCGGTCACAGCGCATGTATGATCCTTTCAGGTACAGCCAGCTCTTAGGGGGGGATGAGATCATTATGTCTCATGATGGCCCACCCTGTGCCTGCTTCAGGGAATGACAGCCAGGAAAAGGGGCTCTTCTGTCTTCCCTTCCTATGTGGGTGGTGATGGGAAGAAAGGGGTGTGGCCCAAGAAAATGGAGTCCCTTGGGTGGCTTGGGCTACTACAGTATGAAGGGGACAAGGCTGGGGGGAGGGAACAATACCCGCTCAGCCACACCGGCATTGACTGTCTGGCCCCTGCGGTCCTCGTTGCCCTTGCCGTGCCAGGTGACCTCAGCTGTCTGCTCCCCATTGGGCCCAAACACTACCCAGGCATGATCCTCAGACAGGGCGAGGTGGACATCCCGGAGACCCAGGGCCTGGCAGGCCCCAACCACAGCAAAGGCCACACCGGAGCTGTCCAATTTGGTGCCTGTGGAAGGGGGAGGTAATGAAAGAGGGTCCTCTGTGCTTTAACATGGGGAAAGGGGGCCAGGTAGTGATGGGCCACACTCCCTCCCACTCCCTTTCCAAGCCTGTGACCCAACCTCAGATTCTCCTGCCCACTATCCCTCCATCCCTTCCCTCCCACGTGTTCAAAGACTCTCTCCCTGTTTACACCCTCTATGTCCAACAAGATACCTTTCTGGATATCCTGTAGCTGACCCAGCCTTTGGCCCTACCTCGTCTTTCTCTGCAACTCTATTATATATTCTATGGATTTAGGGATTCCATTTTACTGCACTTACTAGGTTAAAACAGGAATGGCAAAAACAGGACGCTGGCCAACACTCTCTGGCTATACACCCACCAACAAATAACCCTCATTTATCTCTGCACTCTTTTCCTGCTAAGCTGAGAAGCAGCCTCTGATTCCTTCTCAATATGGCACACCAGGATGGGATTGCCAGTCAACCGGGCTTGGTGCAAAGCTCTTTGCAAGCCCTGACTCTTAAGCCTTTTGAGGTCAAGCCCCTTCTCTGTCTCAAACATTTTTGACCAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCTCGTCTCTACTAAAAATCCAAAAAAAAATTAGCCAGGCATGGTGGCAGGCTCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGGCAGGAGAATGGCATGAAAGCAGGAGGCAGAGCTTGCAGTGAGCCGAGATTGCACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACGCCGTCTGAAAAAAAAAAAAAAATTTTCATAGGCCACCAGTTGCGGTGGCTCACACCTGTAATCCCAGCATTTGGGAGACTGAGGCGGGCAGATCACTTGAGCCCAAGAGTTCAAGACCAGTCTGGGCCACATAGTGAGACACCATCTCTACAAAAAAAATACAAAAAATTAACCAGCACCACGGTGCATGCCTGTACTCTCAGCTACTCAGGAGGCTGAGGTTGGAGGATCTCTGAGCCCAGGGAGACTGAGGCTGCAGTGAGCCATGATCACACCACTGCACTCCAGCCTGGGGGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAATCTTCATAGCCATTATTTTGTTTAACTGCCTCAAATGCAGCCCAATTTCATCTTCTTGCCCCCTAAATCTGCTGCCGCCCTCTGTGTCTCATGCTTAGAACTCCTGTAGCTGTTCAGTGGCAAGGGTGGGGGTGCTGAGGGGGCAGAGGTGAGGTTGATGATTTGGAGCCAAGTGATCAGGCTTCACTTCCAGCCCTGCCATGCCGTGTGTGACTTTGGCATATCATTTCCCCTCTCTGGGCTTCAGTTTCCCAACTGCAAAGAGGAAAATAACACCTGCCGAACCTCACAAGGCTTACAGTTCTTAAAAGGGTTCTGTAAACCATGGAGGGTTTTGAAGAAGTGGGTCATGGATAAGATTCCCACCTACTGGGCTCCAACCTGTGATGAAGCTGAAGAGGGACTGGATGTGG | AGGCTGGACACAGGCTGGAGCTCCAGCCTTTCACCTGGCTTTGCTCCCCCGGCCGCTCCTCGCCCGCCTCCAGCAAGCTGGCTGCCTCCTTCAGCAGGTTGGGGATGACATCATTGGCTACTTCAAAGAACTCCTTGTAGATCTCCTCGTCTTCCCGGCAGTAGTTGTAGCTGTGAGAGCAGTGGGGTCTCTGTAGGGTCTGAAGGGGTCTCACCATCGGGGGTAGCCCCAGGGACCTGGCGGGGGATGGAGCCCCCAGGGGCTGGGGGAGTAGGTGGGGTCCTCACTGCAAAATGATGCTGTCTGGGTCAGCCCAGAGGAAGAAAGCAAGAATGAGGAGGGGGGCATGGGGCCGAGGGTGGAAGTCCCACTGCTGGATGATGGTGGTTAAACATTGGAGATTTGAGACTGTTCTGAGAAAAAAAAAATTAGGAGGAGAGGGGAGGGAGGGAAAGATGTGACACCTTAATCAGGGTCCCTACCTCCTGGGTAATGGTGGCCTTGCTGCCTAGGGACTGGATGGAAAGGGGATGGGGCGTGGGAGCCAGGCCTCAGTCCTGGACGAGGGTGGTTGGAAACTGATGGAGGGGAAGAAAGGACAGGCTGCAGGCCCTAGTAGGGGGATCCTCACTCCTGGATGACAGTGGCCGTGTCCGCCCAGGCCTGCAGGGCTTCCCGCACATTGCGGTTGCGACAGTGGTAGCCAGCCAGGTACATGTAGGGGTAGATGTGTTCATCCCGATAGTAGGTCTTGGCTGAGGCAATGCCCTGGATGGAGGTGAGGCAGAGGATCCTCAGGGAGGCAGCCCCAGCTGCCCTGCTGGCACAAATGCCCCACCAGGGCACACCCAGAAGGGGCCACAGGAAGATCCCAGGGAGTCCTCTCCATCTCCACTCCCACCTCCACTCGCTGCCAGCCCTTCTACCTGGTCTCCTCCCTGGGTCTACAGGACTGCTGGCTGAGGCCTGGGGCAGACTGCAGGGGTGGGGCCTGCCCTCCGAGCTCAGGGCCCTTCTCTTTCTCAGACACTCTTCTACACATCACCAAAGACTTTCAAGCCCAGCCCAATGGCCCTCCTCCCCACCTACACCCACCAAGTGAACACCCCCTCTTCATCAGTGCTCCTGCCACATTTGACCTCTGTTATACTCCAGGAAGGACAGTAAGCAGTGGCAGAAAAGGCAGGGCTGAGGGGACAAATGCAGCCCCTGCCACTCCCAGGCTGGGGAACCCTGGACACCCCTCAGACAGCCCTGACTGAACTGATTCTGCACACAGTTGACACAAAGTGAGACTGGATGGGCGATACCCCCCAACACACAAAGTTCTCTTCTCATCTGCCCAGATGAGGGCCCCTGCCTCAGCCACTGTTAGGGTCTCCCTTCTGCACCCTCCTTAGATGCCCCCACCTTGTGGTAGAGGGTGAGTGGGTCTGGCCGGCCAGGGGTGGGCTCCAGCTCCTCTAGATCTGCCAGGTTCCCTAAGGCCATGGGGTACCTAGGAAAGGATCATAATTCAGGCTGCCACCCAGCCCCCCGGCCTCACCAGGCGCAGCCTGGCCACTTCCCTCTACTGACCTTTCCAGATGTCCCAGGTCATAGAGCAGCCAGAGCAGCTTCTAGGAGCCGAAGGAGAGAGTTATGAGCCACGGAACAGGGAGGAGAACGGGTCCTTAGCCTATCGGGCAGAGGTGGGGGTCAGAACCAACAGGGACCACCCACCATGTGGAAGGGCCAAAATTCTGGGACCAGCCCTTTAATGGAGTCAAAGCAATTTCACATCTCAATTCTACTCTCCCAAGAGCCCTGGGAAAGGCCAGGCCAGGAATTACTAACCCATTTTTCCAGGAGGGGAAGCTGAAGCTCAGGAAGGGAAAGTGCCCCTGCCCAGGGTCCCACAGCAAGTCAAGTCTGGCCTAGCCCAGTCCTGCCCCATTGGCTCAGCCCTCACCTGCTGCAGCTGCAGAAGCTCCAGCGAGTCGGTGTGCAGGTCAATGGAAGGGTTGATGGCACACACCATGAACGCCACCTCCATCTTGCGGTCACAGCGCATGCATGTATGATCCTTTCAGGTACAGCCAGCTCTTAGGGGGGGATGAGATCATTATGTCTCATGATGGCCCACCCTGTGCCTGCTTCAGGGAATGACAGCCAGGAAAAGGGGCTCTTCTGTCTTCCCTTCCTATGTGGGTGGTGATGGGAAGAAAGGGGTGTGGCCCAAGAAAATGGAGTCCCTTGGGTGGCTTGGGCTACTACAGTATGAAGGGGACAAGGCTGGGGGGAGGGAACAATACCCGCTCAGCCACACCGGCATTGACTGTCTGGCCCCTGCGGTCCTCGTTGCCCTTGCCGTGCCAGGTGACCTCAGCTGTCTGCTCCCCATTGGGCCCAAACACTACCCAGGCATGATCCTCAGACAGGGCGAGGTGGACATCCCGGAGACCCAGGGCCTGGCAGGCCCCAACCACAGCAAAGGCCACACCGGAGCTGTCCAATTTGGTGCCTGTGGAAGGGGGAGGTAATGAAAGAGGGTCCTCTGTGCTTTAACATGGGGAAAGGGGGCCAGGTAGTGATGGGCCACACTCCCTCCCACTCCCTTTCCAAGCCTGTGACCCAACCTCAGATTCTCCTGCCCACTATCCCTCCATCCCTTCCCTCCCACGTGTTCAAAGACTCTCTCCCTGTTTACACCCTCTATGTCCAACAAGATACCTTTCTGGATATCCTGTAGCTGACCCAGCCTTTGGCCCTACCTCGTCTTTCTCTGCAACTCTATTATATATTCTATGGATTTAGGGATTCCATTTTACTGCACTTACTAGGTTAAAACAGGAATGGCAAAAACAGGACGCTGGCCAACACTCTCTGGCTATACACCCACCAACAAATAACCCTCATTTATCTCTGCACTCTTTTCCTGCTAAGCTGAGAAGCAGCCTCTGATTCCTTCTCAATATGGCACACCAGGATGGGATTGCCAGTCAACCGGGCTTGGTGCAAAGCTCTTTGCAAGCCCTGACTCTTAAGCCTTTTGAGGTCAAGCCCCTTCTCTGTCTCAAACATTTTTGACCAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCTCGTCTCTACTAAAAATCCAAAAAAAAATTAGCCAGGCATGGTGGCAGGCTCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGGCAGGAGAATGGCATGAAAGCAGGAGGCAGAGCTTGCAGTGAGCCGAGATTGCACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACGCCGTCTGAAAAAAAAAAAAAAATTTTCATAGGCCACCAGTTGCGGTGGCTCACACCTGTAATCCCAGCATTTGGGAGACTGAGGCGGGCAGATCACTTGAGCCCAAGAGTTCAAGACCAGTCTGGGCCACATAGTGAGACACCATCTCTACAAAAAAAATACAAAAAATTAACCAGCACCACGGTGCATGCCTGTACTCTCAGCTACTCAGGAGGCTGAGGTTGGAGGATCTCTGAGCCCAGGGAGACTGAGGCTGCAGTGAGCCATGATCACACCACTGCACTCCAGCCTGGGGGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAATCTTCATAGCCATTATTTTGTTTAACTGCCTCAAATGCAGCCCAATTTCATCTTCTTGCCCCCTAAATCTGCTGCCGCCCTCTGTGTCTCATGCTTAGAACTCCTGTAGCTGTTCAGTGGCAAGGGTGGGGGTGCTGAGGGGGCAGAGGTGAGGTTGATGATTTGGAGCCAAGTGATCAGGCTTCACTTCCAGCCCTGCCATGCCGTGTGTGACTTTGGCATATCATTTCCCCTCTCTGGGCTTCAGTTTCCCAACTGCAAAGAGGAAAATAACACCTGCCGAACCTCACAAGGCTTACAGTTCTTAAAAGGGTTCTGTAAACCATGGAGGGTTTTGAAGAAGTGGGTCATGGATAAGATTCCCACCTACTGGGCTCCAACCTGTGATGAAGCTGAAGAGGGACTGGAT | pathogenic | 177,915 |
A genetic variant on chromosome 11, position 64807684, affects the gene MEN1 (menin 1). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | benign | TGGCTTTGCTCCCCCGGCCGCTCCTCGCCCGCCTCCAGCAAGCTGGCTGCCTCCTTCAGCAGGTTGGGGATGACATCATTGGCTACTTCAAAGAACTCCTTGTAGATCTCCTCGTCTTCCCGGCAGTAGTTGTAGCTGTGAGAGCAGTGGGGTCTCTGTAGGGTCTGAAGGGGTCTCACCATCGGGGGTAGCCCCAGGGACCTGGCGGGGGATGGAGCCCCCAGGGGCTGGGGGAGTAGGTGGGGTCCTCACTGCAAAATGATGCTGTCTGGGTCAGCCCAGAGGAAGAAAGCAAGAATGAGGAGGGGGGCATGGGGCCGAGGGTGGAAGTCCCACTGCTGGATGATGGTGGTTAAACATTGGAGATTTGAGACTGTTCTGAGAAAAAAAAAATTAGGAGGAGAGGGGAGGGAGGGAAAGATGTGACACCTTAATCAGGGTCCCTACCTCCTGGGTAATGGTGGCCTTGCTGCCTAGGGACTGGATGGAAAGGGGATGGGGCGTGGGAGCCAGGCCTCAGTCCTGGACGAGGGTGGTTGGAAACTGATGGAGGGGAAGAAAGGACAGGCTGCAGGCCCTAGTAGGGGGATCCTCACTCCTGGATGACAGTGGCCGTGTCCGCCCAGGCCTGCAGGGCTTCCCGCACATTGCGGTTGCGACAGTGGTAGCCAGCCAGGTACATGTAGGGGTAGATGTGTTCATCCCGATAGTAGGTCTTGGCTGAGGCAATGCCCTGGATGGAGGTGAGGCAGAGGATCCTCAGGGAGGCAGCCCCAGCTGCCCTGCTGGCACAAATGCCCCACCAGGGCACACCCAGAAGGGGCCACAGGAAGATCCCAGGGAGTCCTCTCCATCTCCACTCCCACCTCCACTCGCTGCCAGCCCTTCTACCTGGTCTCCTCCCTGGGTCTACAGGACTGCTGGCTGAGGCCTGGGGCAGACTGCAGGGGTGGGGCCTGCCCTCCGAGCTCAGGGCCCTTCTCTTTCTCAGACACTCTTCTACACATCACCAAAGACTTTCAAGCCCAGCCCAATGGCCCTCCTCCCCACCTACACCCACCAAGTGAACACCCCCTCTTCATCAGTGCTCCTGCCACATTTGACCTCTGTTATACTCCAGGAAGGACAGTAAGCAGTGGCAGAAAAGGCAGGGCTGAGGGGACAAATGCAGCCCCTGCCACTCCCAGGCTGGGGAACCCTGGACACCCCTCAGACAGCCCTGACTGAACTGATTCTGCACACAGTTGACACAAAGTGAGACTGGATGGGCGATACCCCCCAACACACAAAGTTCTCTTCTCATCTGCCCAGATGAGGGCCCCTGCCTCAGCCACTGTTAGGGTCTCCCTTCTGCACCCTCCTTAGATGCCCCCACCTTGTGGTAGAGGGTGAGTGGGTCTGGCCGGCCAGGGGTGGGCTCCAGCTCCTCTAGATCTGCCAGGTTCCCTAAGGCCATGGGGTACCTAGGAAAGGATCATAATTCAGGCTGCCACCCAGCCCCCCGGCCTCACCAGGCGCAGCCTGGCCACTTCCCTCTACTGACCTTTCCAGATGTCCCAGGTCATAGAGCAGCCAGAGCAGCTTCTAGGAGCCGAAGGAGAGAGTTATGAGCCACGGAACAGGGAGGAGAACGGGTCCTTAGCCTATCGGGCAGAGGTGGGGGTCAGAACCAACAGGGACCACCCACCATGTGGAAGGGCCAAAATTCTGGGACCAGCCCTTTAATGGAGTCAAAGCAATTTCACATCTCAATTCTACTCTCCCAAGAGCCCTGGGAAAGGCCAGGCCAGGAATTACTAACCCATTTTTCCAGGAGGGGAAGCTGAAGCTCAGGAAGGGAAAGTGCCCCTGCCCAGGGTCCCACAGCAAGTCAAGTCTGGCCTAGCCCAGTCCTGCCCCATTGGCTCAGCCCTCACCTGCTGCAGCTGCAGAAGCTCCAGCGAGTCGGTGTGCAGGTCAATGGAAGGGTTGATGGCACACACCATGAACGCCACCTCCATCTTGCGGTCACAGCGCATGTATGATCCTTTCAGGTACAGCCAGCTCTTAGGGGGGGATGAGATCATTATGTCTCATGATGGCCCACCCTGTGCCTGCTTCAGGGAATGACAGCCAGGAAAAGGGGCTCTTCTGTCTTCCCTTCCTATGTGGGTGGTGATGGGAAGAAAGGGGTGTGGCCCAAGAAAATGGAGTCCCTTGGGTGGCTTGGGCTACTACAGTATGAAGGGGACAAGGCTGGGGGGAGGGAACAATACCCGCTCAGCCACACCGGCATTGACTGTCTGGCCCCTGCGGTCCTCGTTGCCCTTGCCGTGCCAGGTGACCTCAGCTGTCTGCTCCCCATTGGGCCCAAACACTACCCAGGCATGATCCTCAGACAGGGCGAGGTGGACATCCCGGAGACCCAGGGCCTGGCAGGCCCCAACCACAGCAAAGGCCACACCGGAGCTGTCCAATTTGGTGCCTGTGGAAGGGGGAGGTAATGAAAGAGGGTCCTCTGTGCTTTAACATGGGGAAAGGGGGCCAGGTAGTGATGGGCCACACTCCCTCCCACTCCCTTTCCAAGCCTGTGACCCAACCTCAGATTCTCCTGCCCACTATCCCTCCATCCCTTCCCTCCCACGTGTTCAAAGACTCTCTCCCTGTTTACACCCTCTATGTCCAACAAGATACCTTTCTGGATATCCTGTAGCTGACCCAGCCTTTGGCCCTACCTCGTCTTTCTCTGCAACTCTATTATATATTCTATGGATTTAGGGATTCCATTTTACTGCACTTACTAGGTTAAAACAGGAATGGCAAAAACAGGACGCTGGCCAACACTCTCTGGCTATACACCCACCAACAAATAACCCTCATTTATCTCTGCACTCTTTTCCTGCTAAGCTGAGAAGCAGCCTCTGATTCCTTCTCAATATGGCACACCAGGATGGGATTGCCAGTCAACCGGGCTTGGTGCAAAGCTCTTTGCAAGCCCTGACTCTTAAGCCTTTTGAGGTCAAGCCCCTTCTCTGTCTCAAACATTTTTGACCAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCTCGTCTCTACTAAAAATCCAAAAAAAAATTAGCCAGGCATGGTGGCAGGCTCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGGCAGGAGAATGGCATGAAAGCAGGAGGCAGAGCTTGCAGTGAGCCGAGATTGCACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACGCCGTCTGAAAAAAAAAAAAAAATTTTCATAGGCCACCAGTTGCGGTGGCTCACACCTGTAATCCCAGCATTTGGGAGACTGAGGCGGGCAGATCACTTGAGCCCAAGAGTTCAAGACCAGTCTGGGCCACATAGTGAGACACCATCTCTACAAAAAAAATACAAAAAATTAACCAGCACCACGGTGCATGCCTGTACTCTCAGCTACTCAGGAGGCTGAGGTTGGAGGATCTCTGAGCCCAGGGAGACTGAGGCTGCAGTGAGCCATGATCACACCACTGCACTCCAGCCTGGGGGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAATCTTCATAGCCATTATTTTGTTTAACTGCCTCAAATGCAGCCCAATTTCATCTTCTTGCCCCCTAAATCTGCTGCCGCCCTCTGTGTCTCATGCTTAGAACTCCTGTAGCTGTTCAGTGGCAAGGGTGGGGGTGCTGAGGGGGCAGAGGTGAGGTTGATGATTTGGAGCCAAGTGATCAGGCTTCACTTCCAGCCCTGCCATGCCGTGTGTGACTTTGGCATATCATTTCCCCTCTCTGGGCTTCAGTTTCCCAACTGCAAAGAGGAAAATAACACCTGCCGAACCTCACAAGGCTTACAGTTCTTAAAAGGGTTCTGTAAACCATGGAGGGTTTTGAAGAAGTGGGTCATGGATAAGATTCCCACCTACTGGGCTCCAACCTGTGATGAAGCTGAAGAGGGACTGGATGTGGGCCCGATCCTTGAAGTAGGAGCGGCTGAGGCTGTT | TGGCTTTGCTCCCCCGGCCGCTCCTCGCCCGCCTCCAGCAAGCTGGCTGCCTCCTTCAGCAGGTTGGGGATGACATCATTGGCTACTTCAAAGAACTCCTTGTAGATCTCCTCGTCTTCCCGGCAGTAGTTGTAGCTGTGAGAGCAGTGGGGTCTCTGTAGGGTCTGAAGGGGTCTCACCATCGGGGGTAGCCCCAGGGACCTGGCGGGGGATGGAGCCCCCAGGGGCTGGGGGAGTAGGTGGGGTCCTCACTGCAAAATGATGCTGTCTGGGTCAGCCCAGAGGAAGAAAGCAAGAATGAGGAGGGGGGCATGGGGCCGAGGGTGGAAGTCCCACTGCTGGATGATGGTGGTTAAACATTGGAGATTTGAGACTGTTCTGAGAAAAAAAAAATTAGGAGGAGAGGGGAGGGAGGGAAAGATGTGACACCTTAATCAGGGTCCCTACCTCCTGGGTAATGGTGGCCTTGCTGCCTAGGGACTGGATGGAAAGGGGATGGGGCGTGGGAGCCAGGCCTCAGTCCTGGACGAGGGTGGTTGGAAACTGATGGAGGGGAAGAAAGGACAGGCTGCAGGCCCTAGTAGGGGGATCCTCACTCCTGGATGACAGTGGCCGTGTCCGCCCAGGCCTGCAGGGCTTCCCGCACATTGCGGTTGCGACAGTGGTAGCCAGCCAGGTACATGTAGGGGTAGATGTGTTCATCCCGATAGTAGGTCTTGGCTGAGGCAATGCCCTGGATGGAGGTGAGGCAGAGGATCCTCAGGGAGGCAGCCCCAGCTGCCCTGCTGGCACAAATGCCCCACCAGGGCACACCCAGAAGGGGCCACAGGAAGATCCCAGGGAGTCCTCTCCATCTCCACTCCCACCTCCACTCGCTGCCAGCCCTTCTACCTGGTCTCCTCCCTGGGTCTACAGGACTGCTGGCTGAGGCCTGGGGCAGACTGCAGGGGTGGGGCCTGCCCTCCGAGCTCAGGGCCCTTCTCTTTCTCAGACACTCTTCTACACATCACCAAAGACTTTCAAGCCCAGCCCAATGGCCCTCCTCCCCACCTACACCCACCAAGTGAACACCCCCTCTTCATCAGTGCTCCTGCCACATTTGACCTCTGTTATACTCCAGGAAGGACAGTAAGCAGTGGCAGAAAAGGCAGGGCTGAGGGGACAAATGCAGCCCCTGCCACTCCCAGGCTGGGGAACCCTGGACACCCCTCAGACAGCCCTGACTGAACTGATTCTGCACACAGTTGACACAAAGTGAGACTGGATGGGCGATACCCCCCAACACACAAAGTTCTCTTCTCATCTGCCCAGATGAGGGCCCCTGCCTCAGCCACTGTTAGGGTCTCCCTTCTGCACCCTCCTTAGATGCCCCCACCTTGTGGTAGAGGGTGAGTGGGTCTGGCCGGCCAGGGGTGGGCTCCAGCTCCTCTAGATCTGCCAGGTTCCCTAAGGCCATGGGGTACCTAGGAAAGGATCATAATTCAGGCTGCCACCCAGCCCCCCGGCCTCACCAGGCGCAGCCTGGCCACTTCCCTCTACTGACCTTTCCAGATGTCCCAGGTCATAGAGCAGCCAGAGCAGCTTCTAGGAGCCGAAGGAGAGAGTTATGAGCCACGGAACAGGGAGGAGAACGGGTCCTTAGCCTATCGGGCAGAGGTGGGGGTCAGAACCAACAGGGACCACCCACCATGTGGAAGGGCCAAAATTCTGGGACCAGCCCTTTAATGGAGTCAAAGCAATTTCACATCTCAATTCTACTCTCCCAAGAGCCCTGGGAAAGGCCAGGCCAGGAATTACTAACCCATTTTTCCAGGAGGGGAAGCTGAAGCTCAGGAAGGGAAAGTGCCCCTGCCCAGGGTCCCACAGCAAGTCAAGTCTGGCCTAGCCCAGTCCTGCCCCATTGGCTCAGCCCTCACCTGCTGCAGCTGCAGAAGCTCCAGCGAGTCGGTGTGCAGGTCAATGGAAGGGTTGATGGCACACACCATGAACGCCACCTCCATCTTGCGGTCACAGCGCATGTATGATCCTTTCAGGTACAGCCAGCTCTTAGGGGGGATGAGATCATTATGTCTCATGATGGCCCACCCTGTGCCTGCTTCAGGGAATGACAGCCAGGAAAAGGGGCTCTTCTGTCTTCCCTTCCTATGTGGGTGGTGATGGGAAGAAAGGGGTGTGGCCCAAGAAAATGGAGTCCCTTGGGTGGCTTGGGCTACTACAGTATGAAGGGGACAAGGCTGGGGGGAGGGAACAATACCCGCTCAGCCACACCGGCATTGACTGTCTGGCCCCTGCGGTCCTCGTTGCCCTTGCCGTGCCAGGTGACCTCAGCTGTCTGCTCCCCATTGGGCCCAAACACTACCCAGGCATGATCCTCAGACAGGGCGAGGTGGACATCCCGGAGACCCAGGGCCTGGCAGGCCCCAACCACAGCAAAGGCCACACCGGAGCTGTCCAATTTGGTGCCTGTGGAAGGGGGAGGTAATGAAAGAGGGTCCTCTGTGCTTTAACATGGGGAAAGGGGGCCAGGTAGTGATGGGCCACACTCCCTCCCACTCCCTTTCCAAGCCTGTGACCCAACCTCAGATTCTCCTGCCCACTATCCCTCCATCCCTTCCCTCCCACGTGTTCAAAGACTCTCTCCCTGTTTACACCCTCTATGTCCAACAAGATACCTTTCTGGATATCCTGTAGCTGACCCAGCCTTTGGCCCTACCTCGTCTTTCTCTGCAACTCTATTATATATTCTATGGATTTAGGGATTCCATTTTACTGCACTTACTAGGTTAAAACAGGAATGGCAAAAACAGGACGCTGGCCAACACTCTCTGGCTATACACCCACCAACAAATAACCCTCATTTATCTCTGCACTCTTTTCCTGCTAAGCTGAGAAGCAGCCTCTGATTCCTTCTCAATATGGCACACCAGGATGGGATTGCCAGTCAACCGGGCTTGGTGCAAAGCTCTTTGCAAGCCCTGACTCTTAAGCCTTTTGAGGTCAAGCCCCTTCTCTGTCTCAAACATTTTTGACCAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCTCGTCTCTACTAAAAATCCAAAAAAAAATTAGCCAGGCATGGTGGCAGGCTCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGGCAGGAGAATGGCATGAAAGCAGGAGGCAGAGCTTGCAGTGAGCCGAGATTGCACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACGCCGTCTGAAAAAAAAAAAAAAATTTTCATAGGCCACCAGTTGCGGTGGCTCACACCTGTAATCCCAGCATTTGGGAGACTGAGGCGGGCAGATCACTTGAGCCCAAGAGTTCAAGACCAGTCTGGGCCACATAGTGAGACACCATCTCTACAAAAAAAATACAAAAAATTAACCAGCACCACGGTGCATGCCTGTACTCTCAGCTACTCAGGAGGCTGAGGTTGGAGGATCTCTGAGCCCAGGGAGACTGAGGCTGCAGTGAGCCATGATCACACCACTGCACTCCAGCCTGGGGGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAATCTTCATAGCCATTATTTTGTTTAACTGCCTCAAATGCAGCCCAATTTCATCTTCTTGCCCCCTAAATCTGCTGCCGCCCTCTGTGTCTCATGCTTAGAACTCCTGTAGCTGTTCAGTGGCAAGGGTGGGGGTGCTGAGGGGGCAGAGGTGAGGTTGATGATTTGGAGCCAAGTGATCAGGCTTCACTTCCAGCCCTGCCATGCCGTGTGTGACTTTGGCATATCATTTCCCCTCTCTGGGCTTCAGTTTCCCAACTGCAAAGAGGAAAATAACACCTGCCGAACCTCACAAGGCTTACAGTTCTTAAAAGGGTTCTGTAAACCATGGAGGGTTTTGAAGAAGTGGGTCATGGATAAGATTCCCACCTACTGGGCTCCAACCTGTGATGAAGCTGAAGAGGGACTGGATGTGGGCCCGATCCTTGAAGTAGGAGCGGCTGAGGCTGTTN | benign | 177,927 |
The mutation impacting MEN1 (menin 1) on chromosome 11 at position 64807913: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Multiple_endocrine_neoplasia,_type_1'] | GGGGGAGTAGGTGGGGTCCTCACTGCAAAATGATGCTGTCTGGGTCAGCCCAGAGGAAGAAAGCAAGAATGAGGAGGGGGGCATGGGGCCGAGGGTGGAAGTCCCACTGCTGGATGATGGTGGTTAAACATTGGAGATTTGAGACTGTTCTGAGAAAAAAAAAATTAGGAGGAGAGGGGAGGGAGGGAAAGATGTGACACCTTAATCAGGGTCCCTACCTCCTGGGTAATGGTGGCCTTGCTGCCTAGGGACTGGATGGAAAGGGGATGGGGCGTGGGAGCCAGGCCTCAGTCCTGGACGAGGGTGGTTGGAAACTGATGGAGGGGAAGAAAGGACAGGCTGCAGGCCCTAGTAGGGGGATCCTCACTCCTGGATGACAGTGGCCGTGTCCGCCCAGGCCTGCAGGGCTTCCCGCACATTGCGGTTGCGACAGTGGTAGCCAGCCAGGTACATGTAGGGGTAGATGTGTTCATCCCGATAGTAGGTCTTGGCTGAGGCAATGCCCTGGATGGAGGTGAGGCAGAGGATCCTCAGGGAGGCAGCCCCAGCTGCCCTGCTGGCACAAATGCCCCACCAGGGCACACCCAGAAGGGGCCACAGGAAGATCCCAGGGAGTCCTCTCCATCTCCACTCCCACCTCCACTCGCTGCCAGCCCTTCTACCTGGTCTCCTCCCTGGGTCTACAGGACTGCTGGCTGAGGCCTGGGGCAGACTGCAGGGGTGGGGCCTGCCCTCCGAGCTCAGGGCCCTTCTCTTTCTCAGACACTCTTCTACACATCACCAAAGACTTTCAAGCCCAGCCCAATGGCCCTCCTCCCCACCTACACCCACCAAGTGAACACCCCCTCTTCATCAGTGCTCCTGCCACATTTGACCTCTGTTATACTCCAGGAAGGACAGTAAGCAGTGGCAGAAAAGGCAGGGCTGAGGGGACAAATGCAGCCCCTGCCACTCCCAGGCTGGGGAACCCTGGACACCCCTCAGACAGCCCTGACTGAACTGATTCTGCACACAGTTGACACAAAGTGAGACTGGATGGGCGATACCCCCCAACACACAAAGTTCTCTTCTCATCTGCCCAGATGAGGGCCCCTGCCTCAGCCACTGTTAGGGTCTCCCTTCTGCACCCTCCTTAGATGCCCCCACCTTGTGGTAGAGGGTGAGTGGGTCTGGCCGGCCAGGGGTGGGCTCCAGCTCCTCTAGATCTGCCAGGTTCCCTAAGGCCATGGGGTACCTAGGAAAGGATCATAATTCAGGCTGCCACCCAGCCCCCCGGCCTCACCAGGCGCAGCCTGGCCACTTCCCTCTACTGACCTTTCCAGATGTCCCAGGTCATAGAGCAGCCAGAGCAGCTTCTAGGAGCCGAAGGAGAGAGTTATGAGCCACGGAACAGGGAGGAGAACGGGTCCTTAGCCTATCGGGCAGAGGTGGGGGTCAGAACCAACAGGGACCACCCACCATGTGGAAGGGCCAAAATTCTGGGACCAGCCCTTTAATGGAGTCAAAGCAATTTCACATCTCAATTCTACTCTCCCAAGAGCCCTGGGAAAGGCCAGGCCAGGAATTACTAACCCATTTTTCCAGGAGGGGAAGCTGAAGCTCAGGAAGGGAAAGTGCCCCTGCCCAGGGTCCCACAGCAAGTCAAGTCTGGCCTAGCCCAGTCCTGCCCCATTGGCTCAGCCCTCACCTGCTGCAGCTGCAGAAGCTCCAGCGAGTCGGTGTGCAGGTCAATGGAAGGGTTGATGGCACACACCATGAACGCCACCTCCATCTTGCGGTCACAGCGCATGTATGATCCTTTCAGGTACAGCCAGCTCTTAGGGGGGGATGAGATCATTATGTCTCATGATGGCCCACCCTGTGCCTGCTTCAGGGAATGACAGCCAGGAAAAGGGGCTCTTCTGTCTTCCCTTCCTATGTGGGTGGTGATGGGAAGAAAGGGGTGTGGCCCAAGAAAATGGAGTCCCTTGGGTGGCTTGGGCTACTACAGTATGAAGGGGACAAGGCTGGGGGGAGGGAACAATACCCGCTCAGCCACACCGGCATTGACTGTCTGGCCCCTGCGGTCCTCGTTGCCCTTGCCGTGCCAGGTGACCTCAGCTGTCTGCTCCCCATTGGGCCCAAACACTACCCAGGCATGATCCTCAGACAGGGCGAGGTGGACATCCCGGAGACCCAGGGCCTGGCAGGCCCCAACCACAGCAAAGGCCACACCGGAGCTGTCCAATTTGGTGCCTGTGGAAGGGGGAGGTAATGAAAGAGGGTCCTCTGTGCTTTAACATGGGGAAAGGGGGCCAGGTAGTGATGGGCCACACTCCCTCCCACTCCCTTTCCAAGCCTGTGACCCAACCTCAGATTCTCCTGCCCACTATCCCTCCATCCCTTCCCTCCCACGTGTTCAAAGACTCTCTCCCTGTTTACACCCTCTATGTCCAACAAGATACCTTTCTGGATATCCTGTAGCTGACCCAGCCTTTGGCCCTACCTCGTCTTTCTCTGCAACTCTATTATATATTCTATGGATTTAGGGATTCCATTTTACTGCACTTACTAGGTTAAAACAGGAATGGCAAAAACAGGACGCTGGCCAACACTCTCTGGCTATACACCCACCAACAAATAACCCTCATTTATCTCTGCACTCTTTTCCTGCTAAGCTGAGAAGCAGCCTCTGATTCCTTCTCAATATGGCACACCAGGATGGGATTGCCAGTCAACCGGGCTTGGTGCAAAGCTCTTTGCAAGCCCTGACTCTTAAGCCTTTTGAGGTCAAGCCCCTTCTCTGTCTCAAACATTTTTGACCAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCTCGTCTCTACTAAAAATCCAAAAAAAAATTAGCCAGGCATGGTGGCAGGCTCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGGCAGGAGAATGGCATGAAAGCAGGAGGCAGAGCTTGCAGTGAGCCGAGATTGCACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACGCCGTCTGAAAAAAAAAAAAAAATTTTCATAGGCCACCAGTTGCGGTGGCTCACACCTGTAATCCCAGCATTTGGGAGACTGAGGCGGGCAGATCACTTGAGCCCAAGAGTTCAAGACCAGTCTGGGCCACATAGTGAGACACCATCTCTACAAAAAAAATACAAAAAATTAACCAGCACCACGGTGCATGCCTGTACTCTCAGCTACTCAGGAGGCTGAGGTTGGAGGATCTCTGAGCCCAGGGAGACTGAGGCTGCAGTGAGCCATGATCACACCACTGCACTCCAGCCTGGGGGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAATCTTCATAGCCATTATTTTGTTTAACTGCCTCAAATGCAGCCCAATTTCATCTTCTTGCCCCCTAAATCTGCTGCCGCCCTCTGTGTCTCATGCTTAGAACTCCTGTAGCTGTTCAGTGGCAAGGGTGGGGGTGCTGAGGGGGCAGAGGTGAGGTTGATGATTTGGAGCCAAGTGATCAGGCTTCACTTCCAGCCCTGCCATGCCGTGTGTGACTTTGGCATATCATTTCCCCTCTCTGGGCTTCAGTTTCCCAACTGCAAAGAGGAAAATAACACCTGCCGAACCTCACAAGGCTTACAGTTCTTAAAAGGGTTCTGTAAACCATGGAGGGTTTTGAAGAAGTGGGTCATGGATAAGATTCCCACCTACTGGGCTCCAACCTGTGATGAAGCTGAAGAGGGACTGGATGTGGGCCCGATCCTTGAAGTAGGAGCGGCTGAGGCTGTTCCATATGACATCGGAGACCTTCTTCACCAGCTCACGGCTGGAGACACCCCCTTCTCGAGGATAGAGGGACAGGTCGACGGCGCCTCGGATCTGGGCGGTGAAGCGGGCATAGAGGGCGGCGATGATAGACAGGTCGGCCACGGGAAAGTAGGTGAGGCCGCCAGGCGGGTCGGGGGCGGGGCTGGGCTGGAAGGTGAGCTCGGGAACGTTGGTAGGGATGACGCGGTTG | GGGGGAGTAGGTGGGGTCCTCACTGCAAAATGATGCTGTCTGGGTCAGCCCAGAGGAAGAAAGCAAGAATGAGGAGGGGGGCATGGGGCCGAGGGTGGAAGTCCCACTGCTGGATGATGGTGGTTAAACATTGGAGATTTGAGACTGTTCTGAGAAAAAAAAAATTAGGAGGAGAGGGGAGGGAGGGAAAGATGTGACACCTTAATCAGGGTCCCTACCTCCTGGGTAATGGTGGCCTTGCTGCCTAGGGACTGGATGGAAAGGGGATGGGGCGTGGGAGCCAGGCCTCAGTCCTGGACGAGGGTGGTTGGAAACTGATGGAGGGGAAGAAAGGACAGGCTGCAGGCCCTAGTAGGGGGATCCTCACTCCTGGATGACAGTGGCCGTGTCCGCCCAGGCCTGCAGGGCTTCCCGCACATTGCGGTTGCGACAGTGGTAGCCAGCCAGGTACATGTAGGGGTAGATGTGTTCATCCCGATAGTAGGTCTTGGCTGAGGCAATGCCCTGGATGGAGGTGAGGCAGAGGATCCTCAGGGAGGCAGCCCCAGCTGCCCTGCTGGCACAAATGCCCCACCAGGGCACACCCAGAAGGGGCCACAGGAAGATCCCAGGGAGTCCTCTCCATCTCCACTCCCACCTCCACTCGCTGCCAGCCCTTCTACCTGGTCTCCTCCCTGGGTCTACAGGACTGCTGGCTGAGGCCTGGGGCAGACTGCAGGGGTGGGGCCTGCCCTCCGAGCTCAGGGCCCTTCTCTTTCTCAGACACTCTTCTACACATCACCAAAGACTTTCAAGCCCAGCCCAATGGCCCTCCTCCCCACCTACACCCACCAAGTGAACACCCCCTCTTCATCAGTGCTCCTGCCACATTTGACCTCTGTTATACTCCAGGAAGGACAGTAAGCAGTGGCAGAAAAGGCAGGGCTGAGGGGACAAATGCAGCCCCTGCCACTCCCAGGCTGGGGAACCCTGGACACCCCTCAGACAGCCCTGACTGAACTGATTCTGCACACAGTTGACACAAAGTGAGACTGGATGGGCGATACCCCCCAACACACAAAGTTCTCTTCTCATCTGCCCAGATGAGGGCCCCTGCCTCAGCCACTGTTAGGGTCTCCCTTCTGCACCCTCCTTAGATGCCCCCACCTTGTGGTAGAGGGTGAGTGGGTCTGGCCGGCCAGGGGTGGGCTCCAGCTCCTCTAGATCTGCCAGGTTCCCTAAGGCCATGGGGTACCTAGGAAAGGATCATAATTCAGGCTGCCACCCAGCCCCCCGGCCTCACCAGGCGCAGCCTGGCCACTTCCCTCTACTGACCTTTCCAGATGTCCCAGGTCATAGAGCAGCCAGAGCAGCTTCTAGGAGCCGAAGGAGAGAGTTATGAGCCACGGAACAGGGAGGAGAACGGGTCCTTAGCCTATCGGGCAGAGGTGGGGGTCAGAACCAACAGGGACCACCCACCATGTGGAAGGGCCAAAATTCTGGGACCAGCCCTTTAATGGAGTCAAAGCAATTTCACATCTCAATTCTACTCTCCCAAGAGCCCTGGGAAAGGCCAGGCCAGGAATTACTAACCCATTTTTCCAGGAGGGGAAGCTGAAGCTCAGGAAGGGAAAGTGCCCCTGCCCAGGGTCCCACAGCAAGTCAAGTCTGGCCTAGCCCAGTCCTGCCCCATTGGCTCAGCCCTCACCTGCTGCAGCTGCAGAAGCTCCAGCGAGTCGGTGTGCAGGTCAATGGAAGGGTTGATGGCACACACCATGAACGCCACCTCCATCTTGCGGTCACAGCGCATGTATGATCCTTTCAGGTACAGCCAGCTCTTAGGGGGGGATGAGATCATTATGTCTCATGATGGCCCACCCTGTGCCTGCTTCAGGGAATGACAGCCAGGAAAAGGGGCTCTTCTGTCTTCCCTTCCTATGTGGGTGGTGATGGGAAGAAAGGGGTGTGGCCCAAGAAAATGGAGTCCCTTGGGTGGCTTGGGCTACTACAGTATGAAGGGGACAAGGCTGGGGGGAGGGAACAATACCCGCTCAGCCACACCGGCATTGACTGGCCCCTGCGGTCCTCGTTGCCCTTGCCGTGCCAGGTGACCTCAGCTGTCTGCTCCCCATTGGGCCCAAACACTACCCAGGCATGATCCTCAGACAGGGCGAGGTGGACATCCCGGAGACCCAGGGCCTGGCAGGCCCCAACCACAGCAAAGGCCACACCGGAGCTGTCCAATTTGGTGCCTGTGGAAGGGGGAGGTAATGAAAGAGGGTCCTCTGTGCTTTAACATGGGGAAAGGGGGCCAGGTAGTGATGGGCCACACTCCCTCCCACTCCCTTTCCAAGCCTGTGACCCAACCTCAGATTCTCCTGCCCACTATCCCTCCATCCCTTCCCTCCCACGTGTTCAAAGACTCTCTCCCTGTTTACACCCTCTATGTCCAACAAGATACCTTTCTGGATATCCTGTAGCTGACCCAGCCTTTGGCCCTACCTCGTCTTTCTCTGCAACTCTATTATATATTCTATGGATTTAGGGATTCCATTTTACTGCACTTACTAGGTTAAAACAGGAATGGCAAAAACAGGACGCTGGCCAACACTCTCTGGCTATACACCCACCAACAAATAACCCTCATTTATCTCTGCACTCTTTTCCTGCTAAGCTGAGAAGCAGCCTCTGATTCCTTCTCAATATGGCACACCAGGATGGGATTGCCAGTCAACCGGGCTTGGTGCAAAGCTCTTTGCAAGCCCTGACTCTTAAGCCTTTTGAGGTCAAGCCCCTTCTCTGTCTCAAACATTTTTGACCAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCTCGTCTCTACTAAAAATCCAAAAAAAAATTAGCCAGGCATGGTGGCAGGCTCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGGCAGGAGAATGGCATGAAAGCAGGAGGCAGAGCTTGCAGTGAGCCGAGATTGCACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACGCCGTCTGAAAAAAAAAAAAAAATTTTCATAGGCCACCAGTTGCGGTGGCTCACACCTGTAATCCCAGCATTTGGGAGACTGAGGCGGGCAGATCACTTGAGCCCAAGAGTTCAAGACCAGTCTGGGCCACATAGTGAGACACCATCTCTACAAAAAAAATACAAAAAATTAACCAGCACCACGGTGCATGCCTGTACTCTCAGCTACTCAGGAGGCTGAGGTTGGAGGATCTCTGAGCCCAGGGAGACTGAGGCTGCAGTGAGCCATGATCACACCACTGCACTCCAGCCTGGGGGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAATCTTCATAGCCATTATTTTGTTTAACTGCCTCAAATGCAGCCCAATTTCATCTTCTTGCCCCCTAAATCTGCTGCCGCCCTCTGTGTCTCATGCTTAGAACTCCTGTAGCTGTTCAGTGGCAAGGGTGGGGGTGCTGAGGGGGCAGAGGTGAGGTTGATGATTTGGAGCCAAGTGATCAGGCTTCACTTCCAGCCCTGCCATGCCGTGTGTGACTTTGGCATATCATTTCCCCTCTCTGGGCTTCAGTTTCCCAACTGCAAAGAGGAAAATAACACCTGCCGAACCTCACAAGGCTTACAGTTCTTAAAAGGGTTCTGTAAACCATGGAGGGTTTTGAAGAAGTGGGTCATGGATAAGATTCCCACCTACTGGGCTCCAACCTGTGATGAAGCTGAAGAGGGACTGGATGTGGGCCCGATCCTTGAAGTAGGAGCGGCTGAGGCTGTTCCATATGACATCGGAGACCTTCTTCACCAGCTCACGGCTGGAGACACCCCCTTCTCGAGGATAGAGGGACAGGTCGACGGCGCCTCGGATCTGGGCGGTGAAGCGGGCATAGAGGGCGGCGATGATAGACAGGTCGGCCACGGGAAAGTAGGTGAGGCCGCCAGGCGGGTCGGGGGCGGGGCTGGGCTGGAAGGTGAGCTCGGGAACGTTGGTAGGGATGACGCGGTTGNNNN | pathogenic | 177,942 |
Clinical significance of chromosome 11, position 64807919, gene MEN1: benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Multiple_endocrine_neoplasia,_type_1'] | GTAGGTGGGGTCCTCACTGCAAAATGATGCTGTCTGGGTCAGCCCAGAGGAAGAAAGCAAGAATGAGGAGGGGGGCATGGGGCCGAGGGTGGAAGTCCCACTGCTGGATGATGGTGGTTAAACATTGGAGATTTGAGACTGTTCTGAGAAAAAAAAAATTAGGAGGAGAGGGGAGGGAGGGAAAGATGTGACACCTTAATCAGGGTCCCTACCTCCTGGGTAATGGTGGCCTTGCTGCCTAGGGACTGGATGGAAAGGGGATGGGGCGTGGGAGCCAGGCCTCAGTCCTGGACGAGGGTGGTTGGAAACTGATGGAGGGGAAGAAAGGACAGGCTGCAGGCCCTAGTAGGGGGATCCTCACTCCTGGATGACAGTGGCCGTGTCCGCCCAGGCCTGCAGGGCTTCCCGCACATTGCGGTTGCGACAGTGGTAGCCAGCCAGGTACATGTAGGGGTAGATGTGTTCATCCCGATAGTAGGTCTTGGCTGAGGCAATGCCCTGGATGGAGGTGAGGCAGAGGATCCTCAGGGAGGCAGCCCCAGCTGCCCTGCTGGCACAAATGCCCCACCAGGGCACACCCAGAAGGGGCCACAGGAAGATCCCAGGGAGTCCTCTCCATCTCCACTCCCACCTCCACTCGCTGCCAGCCCTTCTACCTGGTCTCCTCCCTGGGTCTACAGGACTGCTGGCTGAGGCCTGGGGCAGACTGCAGGGGTGGGGCCTGCCCTCCGAGCTCAGGGCCCTTCTCTTTCTCAGACACTCTTCTACACATCACCAAAGACTTTCAAGCCCAGCCCAATGGCCCTCCTCCCCACCTACACCCACCAAGTGAACACCCCCTCTTCATCAGTGCTCCTGCCACATTTGACCTCTGTTATACTCCAGGAAGGACAGTAAGCAGTGGCAGAAAAGGCAGGGCTGAGGGGACAAATGCAGCCCCTGCCACTCCCAGGCTGGGGAACCCTGGACACCCCTCAGACAGCCCTGACTGAACTGATTCTGCACACAGTTGACACAAAGTGAGACTGGATGGGCGATACCCCCCAACACACAAAGTTCTCTTCTCATCTGCCCAGATGAGGGCCCCTGCCTCAGCCACTGTTAGGGTCTCCCTTCTGCACCCTCCTTAGATGCCCCCACCTTGTGGTAGAGGGTGAGTGGGTCTGGCCGGCCAGGGGTGGGCTCCAGCTCCTCTAGATCTGCCAGGTTCCCTAAGGCCATGGGGTACCTAGGAAAGGATCATAATTCAGGCTGCCACCCAGCCCCCCGGCCTCACCAGGCGCAGCCTGGCCACTTCCCTCTACTGACCTTTCCAGATGTCCCAGGTCATAGAGCAGCCAGAGCAGCTTCTAGGAGCCGAAGGAGAGAGTTATGAGCCACGGAACAGGGAGGAGAACGGGTCCTTAGCCTATCGGGCAGAGGTGGGGGTCAGAACCAACAGGGACCACCCACCATGTGGAAGGGCCAAAATTCTGGGACCAGCCCTTTAATGGAGTCAAAGCAATTTCACATCTCAATTCTACTCTCCCAAGAGCCCTGGGAAAGGCCAGGCCAGGAATTACTAACCCATTTTTCCAGGAGGGGAAGCTGAAGCTCAGGAAGGGAAAGTGCCCCTGCCCAGGGTCCCACAGCAAGTCAAGTCTGGCCTAGCCCAGTCCTGCCCCATTGGCTCAGCCCTCACCTGCTGCAGCTGCAGAAGCTCCAGCGAGTCGGTGTGCAGGTCAATGGAAGGGTTGATGGCACACACCATGAACGCCACCTCCATCTTGCGGTCACAGCGCATGTATGATCCTTTCAGGTACAGCCAGCTCTTAGGGGGGGATGAGATCATTATGTCTCATGATGGCCCACCCTGTGCCTGCTTCAGGGAATGACAGCCAGGAAAAGGGGCTCTTCTGTCTTCCCTTCCTATGTGGGTGGTGATGGGAAGAAAGGGGTGTGGCCCAAGAAAATGGAGTCCCTTGGGTGGCTTGGGCTACTACAGTATGAAGGGGACAAGGCTGGGGGGAGGGAACAATACCCGCTCAGCCACACCGGCATTGACTGTCTGGCCCCTGCGGTCCTCGTTGCCCTTGCCGTGCCAGGTGACCTCAGCTGTCTGCTCCCCATTGGGCCCAAACACTACCCAGGCATGATCCTCAGACAGGGCGAGGTGGACATCCCGGAGACCCAGGGCCTGGCAGGCCCCAACCACAGCAAAGGCCACACCGGAGCTGTCCAATTTGGTGCCTGTGGAAGGGGGAGGTAATGAAAGAGGGTCCTCTGTGCTTTAACATGGGGAAAGGGGGCCAGGTAGTGATGGGCCACACTCCCTCCCACTCCCTTTCCAAGCCTGTGACCCAACCTCAGATTCTCCTGCCCACTATCCCTCCATCCCTTCCCTCCCACGTGTTCAAAGACTCTCTCCCTGTTTACACCCTCTATGTCCAACAAGATACCTTTCTGGATATCCTGTAGCTGACCCAGCCTTTGGCCCTACCTCGTCTTTCTCTGCAACTCTATTATATATTCTATGGATTTAGGGATTCCATTTTACTGCACTTACTAGGTTAAAACAGGAATGGCAAAAACAGGACGCTGGCCAACACTCTCTGGCTATACACCCACCAACAAATAACCCTCATTTATCTCTGCACTCTTTTCCTGCTAAGCTGAGAAGCAGCCTCTGATTCCTTCTCAATATGGCACACCAGGATGGGATTGCCAGTCAACCGGGCTTGGTGCAAAGCTCTTTGCAAGCCCTGACTCTTAAGCCTTTTGAGGTCAAGCCCCTTCTCTGTCTCAAACATTTTTGACCAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCTCGTCTCTACTAAAAATCCAAAAAAAAATTAGCCAGGCATGGTGGCAGGCTCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGGCAGGAGAATGGCATGAAAGCAGGAGGCAGAGCTTGCAGTGAGCCGAGATTGCACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACGCCGTCTGAAAAAAAAAAAAAAATTTTCATAGGCCACCAGTTGCGGTGGCTCACACCTGTAATCCCAGCATTTGGGAGACTGAGGCGGGCAGATCACTTGAGCCCAAGAGTTCAAGACCAGTCTGGGCCACATAGTGAGACACCATCTCTACAAAAAAAATACAAAAAATTAACCAGCACCACGGTGCATGCCTGTACTCTCAGCTACTCAGGAGGCTGAGGTTGGAGGATCTCTGAGCCCAGGGAGACTGAGGCTGCAGTGAGCCATGATCACACCACTGCACTCCAGCCTGGGGGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAATCTTCATAGCCATTATTTTGTTTAACTGCCTCAAATGCAGCCCAATTTCATCTTCTTGCCCCCTAAATCTGCTGCCGCCCTCTGTGTCTCATGCTTAGAACTCCTGTAGCTGTTCAGTGGCAAGGGTGGGGGTGCTGAGGGGGCAGAGGTGAGGTTGATGATTTGGAGCCAAGTGATCAGGCTTCACTTCCAGCCCTGCCATGCCGTGTGTGACTTTGGCATATCATTTCCCCTCTCTGGGCTTCAGTTTCCCAACTGCAAAGAGGAAAATAACACCTGCCGAACCTCACAAGGCTTACAGTTCTTAAAAGGGTTCTGTAAACCATGGAGGGTTTTGAAGAAGTGGGTCATGGATAAGATTCCCACCTACTGGGCTCCAACCTGTGATGAAGCTGAAGAGGGACTGGATGTGGGCCCGATCCTTGAAGTAGGAGCGGCTGAGGCTGTTCCATATGACATCGGAGACCTTCTTCACCAGCTCACGGCTGGAGACACCCCCTTCTCGAGGATAGAGGGACAGGTCGACGGCGCCTCGGATCTGGGCGGTGAAGCGGGCATAGAGGGCGGCGATGATAGACAGGTCGGCCACGGGAAAGTAGGTGAGGCCGCCAGGCGGGTCGGGGGCGGGGCTGGGCTGGAAGGTGAGCTCGGGAACGTTGGTAGGGATGACGCGGTTGACAGCC | GTAGGTGGGGTCCTCACTGCAAAATGATGCTGTCTGGGTCAGCCCAGAGGAAGAAAGCAAGAATGAGGAGGGGGGCATGGGGCCGAGGGTGGAAGTCCCACTGCTGGATGATGGTGGTTAAACATTGGAGATTTGAGACTGTTCTGAGAAAAAAAAAATTAGGAGGAGAGGGGAGGGAGGGAAAGATGTGACACCTTAATCAGGGTCCCTACCTCCTGGGTAATGGTGGCCTTGCTGCCTAGGGACTGGATGGAAAGGGGATGGGGCGTGGGAGCCAGGCCTCAGTCCTGGACGAGGGTGGTTGGAAACTGATGGAGGGGAAGAAAGGACAGGCTGCAGGCCCTAGTAGGGGGATCCTCACTCCTGGATGACAGTGGCCGTGTCCGCCCAGGCCTGCAGGGCTTCCCGCACATTGCGGTTGCGACAGTGGTAGCCAGCCAGGTACATGTAGGGGTAGATGTGTTCATCCCGATAGTAGGTCTTGGCTGAGGCAATGCCCTGGATGGAGGTGAGGCAGAGGATCCTCAGGGAGGCAGCCCCAGCTGCCCTGCTGGCACAAATGCCCCACCAGGGCACACCCAGAAGGGGCCACAGGAAGATCCCAGGGAGTCCTCTCCATCTCCACTCCCACCTCCACTCGCTGCCAGCCCTTCTACCTGGTCTCCTCCCTGGGTCTACAGGACTGCTGGCTGAGGCCTGGGGCAGACTGCAGGGGTGGGGCCTGCCCTCCGAGCTCAGGGCCCTTCTCTTTCTCAGACACTCTTCTACACATCACCAAAGACTTTCAAGCCCAGCCCAATGGCCCTCCTCCCCACCTACACCCACCAAGTGAACACCCCCTCTTCATCAGTGCTCCTGCCACATTTGACCTCTGTTATACTCCAGGAAGGACAGTAAGCAGTGGCAGAAAAGGCAGGGCTGAGGGGACAAATGCAGCCCCTGCCACTCCCAGGCTGGGGAACCCTGGACACCCCTCAGACAGCCCTGACTGAACTGATTCTGCACACAGTTGACACAAAGTGAGACTGGATGGGCGATACCCCCCAACACACAAAGTTCTCTTCTCATCTGCCCAGATGAGGGCCCCTGCCTCAGCCACTGTTAGGGTCTCCCTTCTGCACCCTCCTTAGATGCCCCCACCTTGTGGTAGAGGGTGAGTGGGTCTGGCCGGCCAGGGGTGGGCTCCAGCTCCTCTAGATCTGCCAGGTTCCCTAAGGCCATGGGGTACCTAGGAAAGGATCATAATTCAGGCTGCCACCCAGCCCCCCGGCCTCACCAGGCGCAGCCTGGCCACTTCCCTCTACTGACCTTTCCAGATGTCCCAGGTCATAGAGCAGCCAGAGCAGCTTCTAGGAGCCGAAGGAGAGAGTTATGAGCCACGGAACAGGGAGGAGAACGGGTCCTTAGCCTATCGGGCAGAGGTGGGGGTCAGAACCAACAGGGACCACCCACCATGTGGAAGGGCCAAAATTCTGGGACCAGCCCTTTAATGGAGTCAAAGCAATTTCACATCTCAATTCTACTCTCCCAAGAGCCCTGGGAAAGGCCAGGCCAGGAATTACTAACCCATTTTTCCAGGAGGGGAAGCTGAAGCTCAGGAAGGGAAAGTGCCCCTGCCCAGGGTCCCACAGCAAGTCAAGTCTGGCCTAGCCCAGTCCTGCCCCATTGGCTCAGCCCTCACCTGCTGCAGCTGCAGAAGCTCCAGCGAGTCGGTGTGCAGGTCAATGGAAGGGTTGATGGCACACACCATGAACGCCACCTCCATCTTGCGGTCACAGCGCATGTATGATCCTTTCAGGTACAGCCAGCTCTTAGGGGGGGATGAGATCATTATGTCTCATGATGGCCCACCCTGTGCCTGCTTCAGGGAATGACAGCCAGGAAAAGGGGCTCTTCTGTCTTCCCTTCCTATGTGGGTGGTGATGGGAAGAAAGGGGTGTGGCCCAAGAAAATGGAGTCCCTTGGGTGGCTTGGGCTACTACAGTATGAAGGGGACAAGGCTGGGGGGAGGGAACAATACCCGCTCAGCCACACCGGCATTGACTGTCTGCCCCTGCGGTCCTCGTTGCCCTTGCCGTGCCAGGTGACCTCAGCTGTCTGCTCCCCATTGGGCCCAAACACTACCCAGGCATGATCCTCAGACAGGGCGAGGTGGACATCCCGGAGACCCAGGGCCTGGCAGGCCCCAACCACAGCAAAGGCCACACCGGAGCTGTCCAATTTGGTGCCTGTGGAAGGGGGAGGTAATGAAAGAGGGTCCTCTGTGCTTTAACATGGGGAAAGGGGGCCAGGTAGTGATGGGCCACACTCCCTCCCACTCCCTTTCCAAGCCTGTGACCCAACCTCAGATTCTCCTGCCCACTATCCCTCCATCCCTTCCCTCCCACGTGTTCAAAGACTCTCTCCCTGTTTACACCCTCTATGTCCAACAAGATACCTTTCTGGATATCCTGTAGCTGACCCAGCCTTTGGCCCTACCTCGTCTTTCTCTGCAACTCTATTATATATTCTATGGATTTAGGGATTCCATTTTACTGCACTTACTAGGTTAAAACAGGAATGGCAAAAACAGGACGCTGGCCAACACTCTCTGGCTATACACCCACCAACAAATAACCCTCATTTATCTCTGCACTCTTTTCCTGCTAAGCTGAGAAGCAGCCTCTGATTCCTTCTCAATATGGCACACCAGGATGGGATTGCCAGTCAACCGGGCTTGGTGCAAAGCTCTTTGCAAGCCCTGACTCTTAAGCCTTTTGAGGTCAAGCCCCTTCTCTGTCTCAAACATTTTTGACCAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCTCGTCTCTACTAAAAATCCAAAAAAAAATTAGCCAGGCATGGTGGCAGGCTCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGGCAGGAGAATGGCATGAAAGCAGGAGGCAGAGCTTGCAGTGAGCCGAGATTGCACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACGCCGTCTGAAAAAAAAAAAAAAATTTTCATAGGCCACCAGTTGCGGTGGCTCACACCTGTAATCCCAGCATTTGGGAGACTGAGGCGGGCAGATCACTTGAGCCCAAGAGTTCAAGACCAGTCTGGGCCACATAGTGAGACACCATCTCTACAAAAAAAATACAAAAAATTAACCAGCACCACGGTGCATGCCTGTACTCTCAGCTACTCAGGAGGCTGAGGTTGGAGGATCTCTGAGCCCAGGGAGACTGAGGCTGCAGTGAGCCATGATCACACCACTGCACTCCAGCCTGGGGGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAATCTTCATAGCCATTATTTTGTTTAACTGCCTCAAATGCAGCCCAATTTCATCTTCTTGCCCCCTAAATCTGCTGCCGCCCTCTGTGTCTCATGCTTAGAACTCCTGTAGCTGTTCAGTGGCAAGGGTGGGGGTGCTGAGGGGGCAGAGGTGAGGTTGATGATTTGGAGCCAAGTGATCAGGCTTCACTTCCAGCCCTGCCATGCCGTGTGTGACTTTGGCATATCATTTCCCCTCTCTGGGCTTCAGTTTCCCAACTGCAAAGAGGAAAATAACACCTGCCGAACCTCACAAGGCTTACAGTTCTTAAAAGGGTTCTGTAAACCATGGAGGGTTTTGAAGAAGTGGGTCATGGATAAGATTCCCACCTACTGGGCTCCAACCTGTGATGAAGCTGAAGAGGGACTGGATGTGGGCCCGATCCTTGAAGTAGGAGCGGCTGAGGCTGTTCCATATGACATCGGAGACCTTCTTCACCAGCTCACGGCTGGAGACACCCCCTTCTCGAGGATAGAGGGACAGGTCGACGGCGCCTCGGATCTGGGCGGTGAAGCGGGCATAGAGGGCGGCGATGATAGACAGGTCGGCCACGGGAAAGTAGGTGAGGCCGCCAGGCGGGTCGGGGGCGGGGCTGGGCTGGAAGGTGAGCTCGGGAACGTTGGTAGGGATGACGCGGTTGACAGCCN | pathogenic | 177,944 |
Variant chromosome 11, position 64807939, gene MEN1 (menin 1): benign or pathogenic? Disease(s)? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Multiple_endocrine_neoplasia,_type_1'] | AAAATGATGCTGTCTGGGTCAGCCCAGAGGAAGAAAGCAAGAATGAGGAGGGGGGCATGGGGCCGAGGGTGGAAGTCCCACTGCTGGATGATGGTGGTTAAACATTGGAGATTTGAGACTGTTCTGAGAAAAAAAAAATTAGGAGGAGAGGGGAGGGAGGGAAAGATGTGACACCTTAATCAGGGTCCCTACCTCCTGGGTAATGGTGGCCTTGCTGCCTAGGGACTGGATGGAAAGGGGATGGGGCGTGGGAGCCAGGCCTCAGTCCTGGACGAGGGTGGTTGGAAACTGATGGAGGGGAAGAAAGGACAGGCTGCAGGCCCTAGTAGGGGGATCCTCACTCCTGGATGACAGTGGCCGTGTCCGCCCAGGCCTGCAGGGCTTCCCGCACATTGCGGTTGCGACAGTGGTAGCCAGCCAGGTACATGTAGGGGTAGATGTGTTCATCCCGATAGTAGGTCTTGGCTGAGGCAATGCCCTGGATGGAGGTGAGGCAGAGGATCCTCAGGGAGGCAGCCCCAGCTGCCCTGCTGGCACAAATGCCCCACCAGGGCACACCCAGAAGGGGCCACAGGAAGATCCCAGGGAGTCCTCTCCATCTCCACTCCCACCTCCACTCGCTGCCAGCCCTTCTACCTGGTCTCCTCCCTGGGTCTACAGGACTGCTGGCTGAGGCCTGGGGCAGACTGCAGGGGTGGGGCCTGCCCTCCGAGCTCAGGGCCCTTCTCTTTCTCAGACACTCTTCTACACATCACCAAAGACTTTCAAGCCCAGCCCAATGGCCCTCCTCCCCACCTACACCCACCAAGTGAACACCCCCTCTTCATCAGTGCTCCTGCCACATTTGACCTCTGTTATACTCCAGGAAGGACAGTAAGCAGTGGCAGAAAAGGCAGGGCTGAGGGGACAAATGCAGCCCCTGCCACTCCCAGGCTGGGGAACCCTGGACACCCCTCAGACAGCCCTGACTGAACTGATTCTGCACACAGTTGACACAAAGTGAGACTGGATGGGCGATACCCCCCAACACACAAAGTTCTCTTCTCATCTGCCCAGATGAGGGCCCCTGCCTCAGCCACTGTTAGGGTCTCCCTTCTGCACCCTCCTTAGATGCCCCCACCTTGTGGTAGAGGGTGAGTGGGTCTGGCCGGCCAGGGGTGGGCTCCAGCTCCTCTAGATCTGCCAGGTTCCCTAAGGCCATGGGGTACCTAGGAAAGGATCATAATTCAGGCTGCCACCCAGCCCCCCGGCCTCACCAGGCGCAGCCTGGCCACTTCCCTCTACTGACCTTTCCAGATGTCCCAGGTCATAGAGCAGCCAGAGCAGCTTCTAGGAGCCGAAGGAGAGAGTTATGAGCCACGGAACAGGGAGGAGAACGGGTCCTTAGCCTATCGGGCAGAGGTGGGGGTCAGAACCAACAGGGACCACCCACCATGTGGAAGGGCCAAAATTCTGGGACCAGCCCTTTAATGGAGTCAAAGCAATTTCACATCTCAATTCTACTCTCCCAAGAGCCCTGGGAAAGGCCAGGCCAGGAATTACTAACCCATTTTTCCAGGAGGGGAAGCTGAAGCTCAGGAAGGGAAAGTGCCCCTGCCCAGGGTCCCACAGCAAGTCAAGTCTGGCCTAGCCCAGTCCTGCCCCATTGGCTCAGCCCTCACCTGCTGCAGCTGCAGAAGCTCCAGCGAGTCGGTGTGCAGGTCAATGGAAGGGTTGATGGCACACACCATGAACGCCACCTCCATCTTGCGGTCACAGCGCATGTATGATCCTTTCAGGTACAGCCAGCTCTTAGGGGGGGATGAGATCATTATGTCTCATGATGGCCCACCCTGTGCCTGCTTCAGGGAATGACAGCCAGGAAAAGGGGCTCTTCTGTCTTCCCTTCCTATGTGGGTGGTGATGGGAAGAAAGGGGTGTGGCCCAAGAAAATGGAGTCCCTTGGGTGGCTTGGGCTACTACAGTATGAAGGGGACAAGGCTGGGGGGAGGGAACAATACCCGCTCAGCCACACCGGCATTGACTGTCTGGCCCCTGCGGTCCTCGTTGCCCTTGCCGTGCCAGGTGACCTCAGCTGTCTGCTCCCCATTGGGCCCAAACACTACCCAGGCATGATCCTCAGACAGGGCGAGGTGGACATCCCGGAGACCCAGGGCCTGGCAGGCCCCAACCACAGCAAAGGCCACACCGGAGCTGTCCAATTTGGTGCCTGTGGAAGGGGGAGGTAATGAAAGAGGGTCCTCTGTGCTTTAACATGGGGAAAGGGGGCCAGGTAGTGATGGGCCACACTCCCTCCCACTCCCTTTCCAAGCCTGTGACCCAACCTCAGATTCTCCTGCCCACTATCCCTCCATCCCTTCCCTCCCACGTGTTCAAAGACTCTCTCCCTGTTTACACCCTCTATGTCCAACAAGATACCTTTCTGGATATCCTGTAGCTGACCCAGCCTTTGGCCCTACCTCGTCTTTCTCTGCAACTCTATTATATATTCTATGGATTTAGGGATTCCATTTTACTGCACTTACTAGGTTAAAACAGGAATGGCAAAAACAGGACGCTGGCCAACACTCTCTGGCTATACACCCACCAACAAATAACCCTCATTTATCTCTGCACTCTTTTCCTGCTAAGCTGAGAAGCAGCCTCTGATTCCTTCTCAATATGGCACACCAGGATGGGATTGCCAGTCAACCGGGCTTGGTGCAAAGCTCTTTGCAAGCCCTGACTCTTAAGCCTTTTGAGGTCAAGCCCCTTCTCTGTCTCAAACATTTTTGACCAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCTCGTCTCTACTAAAAATCCAAAAAAAAATTAGCCAGGCATGGTGGCAGGCTCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGGCAGGAGAATGGCATGAAAGCAGGAGGCAGAGCTTGCAGTGAGCCGAGATTGCACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACGCCGTCTGAAAAAAAAAAAAAAATTTTCATAGGCCACCAGTTGCGGTGGCTCACACCTGTAATCCCAGCATTTGGGAGACTGAGGCGGGCAGATCACTTGAGCCCAAGAGTTCAAGACCAGTCTGGGCCACATAGTGAGACACCATCTCTACAAAAAAAATACAAAAAATTAACCAGCACCACGGTGCATGCCTGTACTCTCAGCTACTCAGGAGGCTGAGGTTGGAGGATCTCTGAGCCCAGGGAGACTGAGGCTGCAGTGAGCCATGATCACACCACTGCACTCCAGCCTGGGGGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAATCTTCATAGCCATTATTTTGTTTAACTGCCTCAAATGCAGCCCAATTTCATCTTCTTGCCCCCTAAATCTGCTGCCGCCCTCTGTGTCTCATGCTTAGAACTCCTGTAGCTGTTCAGTGGCAAGGGTGGGGGTGCTGAGGGGGCAGAGGTGAGGTTGATGATTTGGAGCCAAGTGATCAGGCTTCACTTCCAGCCCTGCCATGCCGTGTGTGACTTTGGCATATCATTTCCCCTCTCTGGGCTTCAGTTTCCCAACTGCAAAGAGGAAAATAACACCTGCCGAACCTCACAAGGCTTACAGTTCTTAAAAGGGTTCTGTAAACCATGGAGGGTTTTGAAGAAGTGGGTCATGGATAAGATTCCCACCTACTGGGCTCCAACCTGTGATGAAGCTGAAGAGGGACTGGATGTGGGCCCGATCCTTGAAGTAGGAGCGGCTGAGGCTGTTCCATATGACATCGGAGACCTTCTTCACCAGCTCACGGCTGGAGACACCCCCTTCTCGAGGATAGAGGGACAGGTCGACGGCGCCTCGGATCTGGGCGGTGAAGCGGGCATAGAGGGCGGCGATGATAGACAGGTCGGCCACGGGAAAGTAGGTGAGGCCGCCAGGCGGGTCGGGGGCGGGGCTGGGCTGGAAGGTGAGCTCGGGAACGTTGGTAGGGATGACGCGGTTGACAGCCAGAAAATGCTCCACGAAGCC | AAAATGATGCTGTCTGGGTCAGCCCAGAGGAAGAAAGCAAGAATGAGGAGGGGGGCATGGGGCCGAGGGTGGAAGTCCCACTGCTGGATGATGGTGGTTAAACATTGGAGATTTGAGACTGTTCTGAGAAAAAAAAAATTAGGAGGAGAGGGGAGGGAGGGAAAGATGTGACACCTTAATCAGGGTCCCTACCTCCTGGGTAATGGTGGCCTTGCTGCCTAGGGACTGGATGGAAAGGGGATGGGGCGTGGGAGCCAGGCCTCAGTCCTGGACGAGGGTGGTTGGAAACTGATGGAGGGGAAGAAAGGACAGGCTGCAGGCCCTAGTAGGGGGATCCTCACTCCTGGATGACAGTGGCCGTGTCCGCCCAGGCCTGCAGGGCTTCCCGCACATTGCGGTTGCGACAGTGGTAGCCAGCCAGGTACATGTAGGGGTAGATGTGTTCATCCCGATAGTAGGTCTTGGCTGAGGCAATGCCCTGGATGGAGGTGAGGCAGAGGATCCTCAGGGAGGCAGCCCCAGCTGCCCTGCTGGCACAAATGCCCCACCAGGGCACACCCAGAAGGGGCCACAGGAAGATCCCAGGGAGTCCTCTCCATCTCCACTCCCACCTCCACTCGCTGCCAGCCCTTCTACCTGGTCTCCTCCCTGGGTCTACAGGACTGCTGGCTGAGGCCTGGGGCAGACTGCAGGGGTGGGGCCTGCCCTCCGAGCTCAGGGCCCTTCTCTTTCTCAGACACTCTTCTACACATCACCAAAGACTTTCAAGCCCAGCCCAATGGCCCTCCTCCCCACCTACACCCACCAAGTGAACACCCCCTCTTCATCAGTGCTCCTGCCACATTTGACCTCTGTTATACTCCAGGAAGGACAGTAAGCAGTGGCAGAAAAGGCAGGGCTGAGGGGACAAATGCAGCCCCTGCCACTCCCAGGCTGGGGAACCCTGGACACCCCTCAGACAGCCCTGACTGAACTGATTCTGCACACAGTTGACACAAAGTGAGACTGGATGGGCGATACCCCCCAACACACAAAGTTCTCTTCTCATCTGCCCAGATGAGGGCCCCTGCCTCAGCCACTGTTAGGGTCTCCCTTCTGCACCCTCCTTAGATGCCCCCACCTTGTGGTAGAGGGTGAGTGGGTCTGGCCGGCCAGGGGTGGGCTCCAGCTCCTCTAGATCTGCCAGGTTCCCTAAGGCCATGGGGTACCTAGGAAAGGATCATAATTCAGGCTGCCACCCAGCCCCCCGGCCTCACCAGGCGCAGCCTGGCCACTTCCCTCTACTGACCTTTCCAGATGTCCCAGGTCATAGAGCAGCCAGAGCAGCTTCTAGGAGCCGAAGGAGAGAGTTATGAGCCACGGAACAGGGAGGAGAACGGGTCCTTAGCCTATCGGGCAGAGGTGGGGGTCAGAACCAACAGGGACCACCCACCATGTGGAAGGGCCAAAATTCTGGGACCAGCCCTTTAATGGAGTCAAAGCAATTTCACATCTCAATTCTACTCTCCCAAGAGCCCTGGGAAAGGCCAGGCCAGGAATTACTAACCCATTTTTCCAGGAGGGGAAGCTGAAGCTCAGGAAGGGAAAGTGCCCCTGCCCAGGGTCCCACAGCAAGTCAAGTCTGGCCTAGCCCAGTCCTGCCCCATTGGCTCAGCCCTCACCTGCTGCAGCTGCAGAAGCTCCAGCGAGTCGGTGTGCAGGTCAATGGAAGGGTTGATGGCACACACCATGAACGCCACCTCCATCTTGCGGTCACAGCGCATGTATGATCCTTTCAGGTACAGCCAGCTCTTAGGGGGGGATGAGATCATTATGTCTCATGATGGCCCACCCTGTGCCTGCTTCAGGGAATGACAGCCAGGAAAAGGGGCTCTTCTGTCTTCCCTTCCTATGTGGGTGGTGATGGGAAGAAAGGGGTGTGGCCCAAGAAAATGGAGTCCCTTGGGTGGCTTGGGCTACTACAGTATGAAGGGGACAAGGCTGGGGGGAGGGAACAATACCCGCTCAGCCACACCGGCATTGACTGTCTGGCCCCTGCGGTCCTCGTTGCCTTGCCGTGCCAGGTGACCTCAGCTGTCTGCTCCCCATTGGGCCCAAACACTACCCAGGCATGATCCTCAGACAGGGCGAGGTGGACATCCCGGAGACCCAGGGCCTGGCAGGCCCCAACCACAGCAAAGGCCACACCGGAGCTGTCCAATTTGGTGCCTGTGGAAGGGGGAGGTAATGAAAGAGGGTCCTCTGTGCTTTAACATGGGGAAAGGGGGCCAGGTAGTGATGGGCCACACTCCCTCCCACTCCCTTTCCAAGCCTGTGACCCAACCTCAGATTCTCCTGCCCACTATCCCTCCATCCCTTCCCTCCCACGTGTTCAAAGACTCTCTCCCTGTTTACACCCTCTATGTCCAACAAGATACCTTTCTGGATATCCTGTAGCTGACCCAGCCTTTGGCCCTACCTCGTCTTTCTCTGCAACTCTATTATATATTCTATGGATTTAGGGATTCCATTTTACTGCACTTACTAGGTTAAAACAGGAATGGCAAAAACAGGACGCTGGCCAACACTCTCTGGCTATACACCCACCAACAAATAACCCTCATTTATCTCTGCACTCTTTTCCTGCTAAGCTGAGAAGCAGCCTCTGATTCCTTCTCAATATGGCACACCAGGATGGGATTGCCAGTCAACCGGGCTTGGTGCAAAGCTCTTTGCAAGCCCTGACTCTTAAGCCTTTTGAGGTCAAGCCCCTTCTCTGTCTCAAACATTTTTGACCAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCTCGTCTCTACTAAAAATCCAAAAAAAAATTAGCCAGGCATGGTGGCAGGCTCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGGCAGGAGAATGGCATGAAAGCAGGAGGCAGAGCTTGCAGTGAGCCGAGATTGCACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACGCCGTCTGAAAAAAAAAAAAAAATTTTCATAGGCCACCAGTTGCGGTGGCTCACACCTGTAATCCCAGCATTTGGGAGACTGAGGCGGGCAGATCACTTGAGCCCAAGAGTTCAAGACCAGTCTGGGCCACATAGTGAGACACCATCTCTACAAAAAAAATACAAAAAATTAACCAGCACCACGGTGCATGCCTGTACTCTCAGCTACTCAGGAGGCTGAGGTTGGAGGATCTCTGAGCCCAGGGAGACTGAGGCTGCAGTGAGCCATGATCACACCACTGCACTCCAGCCTGGGGGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAATCTTCATAGCCATTATTTTGTTTAACTGCCTCAAATGCAGCCCAATTTCATCTTCTTGCCCCCTAAATCTGCTGCCGCCCTCTGTGTCTCATGCTTAGAACTCCTGTAGCTGTTCAGTGGCAAGGGTGGGGGTGCTGAGGGGGCAGAGGTGAGGTTGATGATTTGGAGCCAAGTGATCAGGCTTCACTTCCAGCCCTGCCATGCCGTGTGTGACTTTGGCATATCATTTCCCCTCTCTGGGCTTCAGTTTCCCAACTGCAAAGAGGAAAATAACACCTGCCGAACCTCACAAGGCTTACAGTTCTTAAAAGGGTTCTGTAAACCATGGAGGGTTTTGAAGAAGTGGGTCATGGATAAGATTCCCACCTACTGGGCTCCAACCTGTGATGAAGCTGAAGAGGGACTGGATGTGGGCCCGATCCTTGAAGTAGGAGCGGCTGAGGCTGTTCCATATGACATCGGAGACCTTCTTCACCAGCTCACGGCTGGAGACACCCCCTTCTCGAGGATAGAGGGACAGGTCGACGGCGCCTCGGATCTGGGCGGTGAAGCGGGCATAGAGGGCGGCGATGATAGACAGGTCGGCCACGGGAAAGTAGGTGAGGCCGCCAGGCGGGTCGGGGGCGGGGCTGGGCTGGAAGGTGAGCTCGGGAACGTTGGTAGGGATGACGCGGTTGACAGCCAGAAAATGCTCCACGAAGCCN | pathogenic | 177,948 |
A mutation at chromosome position 64807980 on chromosome 11 in gene MEN1 (menin 1): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Multiple_endocrine_neoplasia,_type_1'] | AATGAGGAGGGGGGCATGGGGCCGAGGGTGGAAGTCCCACTGCTGGATGATGGTGGTTAAACATTGGAGATTTGAGACTGTTCTGAGAAAAAAAAAATTAGGAGGAGAGGGGAGGGAGGGAAAGATGTGACACCTTAATCAGGGTCCCTACCTCCTGGGTAATGGTGGCCTTGCTGCCTAGGGACTGGATGGAAAGGGGATGGGGCGTGGGAGCCAGGCCTCAGTCCTGGACGAGGGTGGTTGGAAACTGATGGAGGGGAAGAAAGGACAGGCTGCAGGCCCTAGTAGGGGGATCCTCACTCCTGGATGACAGTGGCCGTGTCCGCCCAGGCCTGCAGGGCTTCCCGCACATTGCGGTTGCGACAGTGGTAGCCAGCCAGGTACATGTAGGGGTAGATGTGTTCATCCCGATAGTAGGTCTTGGCTGAGGCAATGCCCTGGATGGAGGTGAGGCAGAGGATCCTCAGGGAGGCAGCCCCAGCTGCCCTGCTGGCACAAATGCCCCACCAGGGCACACCCAGAAGGGGCCACAGGAAGATCCCAGGGAGTCCTCTCCATCTCCACTCCCACCTCCACTCGCTGCCAGCCCTTCTACCTGGTCTCCTCCCTGGGTCTACAGGACTGCTGGCTGAGGCCTGGGGCAGACTGCAGGGGTGGGGCCTGCCCTCCGAGCTCAGGGCCCTTCTCTTTCTCAGACACTCTTCTACACATCACCAAAGACTTTCAAGCCCAGCCCAATGGCCCTCCTCCCCACCTACACCCACCAAGTGAACACCCCCTCTTCATCAGTGCTCCTGCCACATTTGACCTCTGTTATACTCCAGGAAGGACAGTAAGCAGTGGCAGAAAAGGCAGGGCTGAGGGGACAAATGCAGCCCCTGCCACTCCCAGGCTGGGGAACCCTGGACACCCCTCAGACAGCCCTGACTGAACTGATTCTGCACACAGTTGACACAAAGTGAGACTGGATGGGCGATACCCCCCAACACACAAAGTTCTCTTCTCATCTGCCCAGATGAGGGCCCCTGCCTCAGCCACTGTTAGGGTCTCCCTTCTGCACCCTCCTTAGATGCCCCCACCTTGTGGTAGAGGGTGAGTGGGTCTGGCCGGCCAGGGGTGGGCTCCAGCTCCTCTAGATCTGCCAGGTTCCCTAAGGCCATGGGGTACCTAGGAAAGGATCATAATTCAGGCTGCCACCCAGCCCCCCGGCCTCACCAGGCGCAGCCTGGCCACTTCCCTCTACTGACCTTTCCAGATGTCCCAGGTCATAGAGCAGCCAGAGCAGCTTCTAGGAGCCGAAGGAGAGAGTTATGAGCCACGGAACAGGGAGGAGAACGGGTCCTTAGCCTATCGGGCAGAGGTGGGGGTCAGAACCAACAGGGACCACCCACCATGTGGAAGGGCCAAAATTCTGGGACCAGCCCTTTAATGGAGTCAAAGCAATTTCACATCTCAATTCTACTCTCCCAAGAGCCCTGGGAAAGGCCAGGCCAGGAATTACTAACCCATTTTTCCAGGAGGGGAAGCTGAAGCTCAGGAAGGGAAAGTGCCCCTGCCCAGGGTCCCACAGCAAGTCAAGTCTGGCCTAGCCCAGTCCTGCCCCATTGGCTCAGCCCTCACCTGCTGCAGCTGCAGAAGCTCCAGCGAGTCGGTGTGCAGGTCAATGGAAGGGTTGATGGCACACACCATGAACGCCACCTCCATCTTGCGGTCACAGCGCATGTATGATCCTTTCAGGTACAGCCAGCTCTTAGGGGGGGATGAGATCATTATGTCTCATGATGGCCCACCCTGTGCCTGCTTCAGGGAATGACAGCCAGGAAAAGGGGCTCTTCTGTCTTCCCTTCCTATGTGGGTGGTGATGGGAAGAAAGGGGTGTGGCCCAAGAAAATGGAGTCCCTTGGGTGGCTTGGGCTACTACAGTATGAAGGGGACAAGGCTGGGGGGAGGGAACAATACCCGCTCAGCCACACCGGCATTGACTGTCTGGCCCCTGCGGTCCTCGTTGCCCTTGCCGTGCCAGGTGACCTCAGCTGTCTGCTCCCCATTGGGCCCAAACACTACCCAGGCATGATCCTCAGACAGGGCGAGGTGGACATCCCGGAGACCCAGGGCCTGGCAGGCCCCAACCACAGCAAAGGCCACACCGGAGCTGTCCAATTTGGTGCCTGTGGAAGGGGGAGGTAATGAAAGAGGGTCCTCTGTGCTTTAACATGGGGAAAGGGGGCCAGGTAGTGATGGGCCACACTCCCTCCCACTCCCTTTCCAAGCCTGTGACCCAACCTCAGATTCTCCTGCCCACTATCCCTCCATCCCTTCCCTCCCACGTGTTCAAAGACTCTCTCCCTGTTTACACCCTCTATGTCCAACAAGATACCTTTCTGGATATCCTGTAGCTGACCCAGCCTTTGGCCCTACCTCGTCTTTCTCTGCAACTCTATTATATATTCTATGGATTTAGGGATTCCATTTTACTGCACTTACTAGGTTAAAACAGGAATGGCAAAAACAGGACGCTGGCCAACACTCTCTGGCTATACACCCACCAACAAATAACCCTCATTTATCTCTGCACTCTTTTCCTGCTAAGCTGAGAAGCAGCCTCTGATTCCTTCTCAATATGGCACACCAGGATGGGATTGCCAGTCAACCGGGCTTGGTGCAAAGCTCTTTGCAAGCCCTGACTCTTAAGCCTTTTGAGGTCAAGCCCCTTCTCTGTCTCAAACATTTTTGACCAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCTCGTCTCTACTAAAAATCCAAAAAAAAATTAGCCAGGCATGGTGGCAGGCTCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGGCAGGAGAATGGCATGAAAGCAGGAGGCAGAGCTTGCAGTGAGCCGAGATTGCACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACGCCGTCTGAAAAAAAAAAAAAAATTTTCATAGGCCACCAGTTGCGGTGGCTCACACCTGTAATCCCAGCATTTGGGAGACTGAGGCGGGCAGATCACTTGAGCCCAAGAGTTCAAGACCAGTCTGGGCCACATAGTGAGACACCATCTCTACAAAAAAAATACAAAAAATTAACCAGCACCACGGTGCATGCCTGTACTCTCAGCTACTCAGGAGGCTGAGGTTGGAGGATCTCTGAGCCCAGGGAGACTGAGGCTGCAGTGAGCCATGATCACACCACTGCACTCCAGCCTGGGGGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAATCTTCATAGCCATTATTTTGTTTAACTGCCTCAAATGCAGCCCAATTTCATCTTCTTGCCCCCTAAATCTGCTGCCGCCCTCTGTGTCTCATGCTTAGAACTCCTGTAGCTGTTCAGTGGCAAGGGTGGGGGTGCTGAGGGGGCAGAGGTGAGGTTGATGATTTGGAGCCAAGTGATCAGGCTTCACTTCCAGCCCTGCCATGCCGTGTGTGACTTTGGCATATCATTTCCCCTCTCTGGGCTTCAGTTTCCCAACTGCAAAGAGGAAAATAACACCTGCCGAACCTCACAAGGCTTACAGTTCTTAAAAGGGTTCTGTAAACCATGGAGGGTTTTGAAGAAGTGGGTCATGGATAAGATTCCCACCTACTGGGCTCCAACCTGTGATGAAGCTGAAGAGGGACTGGATGTGGGCCCGATCCTTGAAGTAGGAGCGGCTGAGGCTGTTCCATATGACATCGGAGACCTTCTTCACCAGCTCACGGCTGGAGACACCCCCTTCTCGAGGATAGAGGGACAGGTCGACGGCGCCTCGGATCTGGGCGGTGAAGCGGGCATAGAGGGCGGCGATGATAGACAGGTCGGCCACGGGAAAGTAGGTGAGGCCGCCAGGCGGGTCGGGGGCGGGGCTGGGCTGGAAGGTGAGCTCGGGAACGTTGGTAGGGATGACGCGGTTGACAGCCAGAAAATGCTCCACGAAGCCCAGCACCAAGGAAAGGAGCACCAGGTCCGGCTCCTCTCGGC | AATGAGGAGGGGGGCATGGGGCCGAGGGTGGAAGTCCCACTGCTGGATGATGGTGGTTAAACATTGGAGATTTGAGACTGTTCTGAGAAAAAAAAAATTAGGAGGAGAGGGGAGGGAGGGAAAGATGTGACACCTTAATCAGGGTCCCTACCTCCTGGGTAATGGTGGCCTTGCTGCCTAGGGACTGGATGGAAAGGGGATGGGGCGTGGGAGCCAGGCCTCAGTCCTGGACGAGGGTGGTTGGAAACTGATGGAGGGGAAGAAAGGACAGGCTGCAGGCCCTAGTAGGGGGATCCTCACTCCTGGATGACAGTGGCCGTGTCCGCCCAGGCCTGCAGGGCTTCCCGCACATTGCGGTTGCGACAGTGGTAGCCAGCCAGGTACATGTAGGGGTAGATGTGTTCATCCCGATAGTAGGTCTTGGCTGAGGCAATGCCCTGGATGGAGGTGAGGCAGAGGATCCTCAGGGAGGCAGCCCCAGCTGCCCTGCTGGCACAAATGCCCCACCAGGGCACACCCAGAAGGGGCCACAGGAAGATCCCAGGGAGTCCTCTCCATCTCCACTCCCACCTCCACTCGCTGCCAGCCCTTCTACCTGGTCTCCTCCCTGGGTCTACAGGACTGCTGGCTGAGGCCTGGGGCAGACTGCAGGGGTGGGGCCTGCCCTCCGAGCTCAGGGCCCTTCTCTTTCTCAGACACTCTTCTACACATCACCAAAGACTTTCAAGCCCAGCCCAATGGCCCTCCTCCCCACCTACACCCACCAAGTGAACACCCCCTCTTCATCAGTGCTCCTGCCACATTTGACCTCTGTTATACTCCAGGAAGGACAGTAAGCAGTGGCAGAAAAGGCAGGGCTGAGGGGACAAATGCAGCCCCTGCCACTCCCAGGCTGGGGAACCCTGGACACCCCTCAGACAGCCCTGACTGAACTGATTCTGCACACAGTTGACACAAAGTGAGACTGGATGGGCGATACCCCCCAACACACAAAGTTCTCTTCTCATCTGCCCAGATGAGGGCCCCTGCCTCAGCCACTGTTAGGGTCTCCCTTCTGCACCCTCCTTAGATGCCCCCACCTTGTGGTAGAGGGTGAGTGGGTCTGGCCGGCCAGGGGTGGGCTCCAGCTCCTCTAGATCTGCCAGGTTCCCTAAGGCCATGGGGTACCTAGGAAAGGATCATAATTCAGGCTGCCACCCAGCCCCCCGGCCTCACCAGGCGCAGCCTGGCCACTTCCCTCTACTGACCTTTCCAGATGTCCCAGGTCATAGAGCAGCCAGAGCAGCTTCTAGGAGCCGAAGGAGAGAGTTATGAGCCACGGAACAGGGAGGAGAACGGGTCCTTAGCCTATCGGGCAGAGGTGGGGGTCAGAACCAACAGGGACCACCCACCATGTGGAAGGGCCAAAATTCTGGGACCAGCCCTTTAATGGAGTCAAAGCAATTTCACATCTCAATTCTACTCTCCCAAGAGCCCTGGGAAAGGCCAGGCCAGGAATTACTAACCCATTTTTCCAGGAGGGGAAGCTGAAGCTCAGGAAGGGAAAGTGCCCCTGCCCAGGGTCCCACAGCAAGTCAAGTCTGGCCTAGCCCAGTCCTGCCCCATTGGCTCAGCCCTCACCTGCTGCAGCTGCAGAAGCTCCAGCGAGTCGGTGTGCAGGTCAATGGAAGGGTTGATGGCACACACCATGAACGCCACCTCCATCTTGCGGTCACAGCGCATGTATGATCCTTTCAGGTACAGCCAGCTCTTAGGGGGGGATGAGATCATTATGTCTCATGATGGCCCACCCTGTGCCTGCTTCAGGGAATGACAGCCAGGAAAAGGGGCTCTTCTGTCTTCCCTTCCTATGTGGGTGGTGATGGGAAGAAAGGGGTGTGGCCCAAGAAAATGGAGTCCCTTGGGTGGCTTGGGCTACTACAGTATGAAGGGGACAAGGCTGGGGGGAGGGAACAATACCCGCTCAGCCACACCGGCATTGACTGTCTGGCCCCTGCGGTCCTCGTTGCCCTTGCCGTGCCAGGTGACCTCAGCTGTCTGCTCCCCATTGCCCAAACACTACCCAGGCATGATCCTCAGACAGGGCGAGGTGGACATCCCGGAGACCCAGGGCCTGGCAGGCCCCAACCACAGCAAAGGCCACACCGGAGCTGTCCAATTTGGTGCCTGTGGAAGGGGGAGGTAATGAAAGAGGGTCCTCTGTGCTTTAACATGGGGAAAGGGGGCCAGGTAGTGATGGGCCACACTCCCTCCCACTCCCTTTCCAAGCCTGTGACCCAACCTCAGATTCTCCTGCCCACTATCCCTCCATCCCTTCCCTCCCACGTGTTCAAAGACTCTCTCCCTGTTTACACCCTCTATGTCCAACAAGATACCTTTCTGGATATCCTGTAGCTGACCCAGCCTTTGGCCCTACCTCGTCTTTCTCTGCAACTCTATTATATATTCTATGGATTTAGGGATTCCATTTTACTGCACTTACTAGGTTAAAACAGGAATGGCAAAAACAGGACGCTGGCCAACACTCTCTGGCTATACACCCACCAACAAATAACCCTCATTTATCTCTGCACTCTTTTCCTGCTAAGCTGAGAAGCAGCCTCTGATTCCTTCTCAATATGGCACACCAGGATGGGATTGCCAGTCAACCGGGCTTGGTGCAAAGCTCTTTGCAAGCCCTGACTCTTAAGCCTTTTGAGGTCAAGCCCCTTCTCTGTCTCAAACATTTTTGACCAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCTCGTCTCTACTAAAAATCCAAAAAAAAATTAGCCAGGCATGGTGGCAGGCTCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGGCAGGAGAATGGCATGAAAGCAGGAGGCAGAGCTTGCAGTGAGCCGAGATTGCACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACGCCGTCTGAAAAAAAAAAAAAAATTTTCATAGGCCACCAGTTGCGGTGGCTCACACCTGTAATCCCAGCATTTGGGAGACTGAGGCGGGCAGATCACTTGAGCCCAAGAGTTCAAGACCAGTCTGGGCCACATAGTGAGACACCATCTCTACAAAAAAAATACAAAAAATTAACCAGCACCACGGTGCATGCCTGTACTCTCAGCTACTCAGGAGGCTGAGGTTGGAGGATCTCTGAGCCCAGGGAGACTGAGGCTGCAGTGAGCCATGATCACACCACTGCACTCCAGCCTGGGGGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAATCTTCATAGCCATTATTTTGTTTAACTGCCTCAAATGCAGCCCAATTTCATCTTCTTGCCCCCTAAATCTGCTGCCGCCCTCTGTGTCTCATGCTTAGAACTCCTGTAGCTGTTCAGTGGCAAGGGTGGGGGTGCTGAGGGGGCAGAGGTGAGGTTGATGATTTGGAGCCAAGTGATCAGGCTTCACTTCCAGCCCTGCCATGCCGTGTGTGACTTTGGCATATCATTTCCCCTCTCTGGGCTTCAGTTTCCCAACTGCAAAGAGGAAAATAACACCTGCCGAACCTCACAAGGCTTACAGTTCTTAAAAGGGTTCTGTAAACCATGGAGGGTTTTGAAGAAGTGGGTCATGGATAAGATTCCCACCTACTGGGCTCCAACCTGTGATGAAGCTGAAGAGGGACTGGATGTGGGCCCGATCCTTGAAGTAGGAGCGGCTGAGGCTGTTCCATATGACATCGGAGACCTTCTTCACCAGCTCACGGCTGGAGACACCCCCTTCTCGAGGATAGAGGGACAGGTCGACGGCGCCTCGGATCTGGGCGGTGAAGCGGGCATAGAGGGCGGCGATGATAGACAGGTCGGCCACGGGAAAGTAGGTGAGGCCGCCAGGCGGGTCGGGGGCGGGGCTGGGCTGGAAGGTGAGCTCGGGAACGTTGGTAGGGATGACGCGGTTGACAGCCAGAAAATGCTCCACGAAGCCCAGCACCAAGGAAAGGAGCACCAGGTCCGGCTCCTCTCGGCNN | pathogenic | 177,957 |
The mutation in gene MEN1 (menin 1) at chromosome 11, position 64808018—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Multiple_endocrine_neoplasia,_type_1'] | ACTGCTGGATGATGGTGGTTAAACATTGGAGATTTGAGACTGTTCTGAGAAAAAAAAAATTAGGAGGAGAGGGGAGGGAGGGAAAGATGTGACACCTTAATCAGGGTCCCTACCTCCTGGGTAATGGTGGCCTTGCTGCCTAGGGACTGGATGGAAAGGGGATGGGGCGTGGGAGCCAGGCCTCAGTCCTGGACGAGGGTGGTTGGAAACTGATGGAGGGGAAGAAAGGACAGGCTGCAGGCCCTAGTAGGGGGATCCTCACTCCTGGATGACAGTGGCCGTGTCCGCCCAGGCCTGCAGGGCTTCCCGCACATTGCGGTTGCGACAGTGGTAGCCAGCCAGGTACATGTAGGGGTAGATGTGTTCATCCCGATAGTAGGTCTTGGCTGAGGCAATGCCCTGGATGGAGGTGAGGCAGAGGATCCTCAGGGAGGCAGCCCCAGCTGCCCTGCTGGCACAAATGCCCCACCAGGGCACACCCAGAAGGGGCCACAGGAAGATCCCAGGGAGTCCTCTCCATCTCCACTCCCACCTCCACTCGCTGCCAGCCCTTCTACCTGGTCTCCTCCCTGGGTCTACAGGACTGCTGGCTGAGGCCTGGGGCAGACTGCAGGGGTGGGGCCTGCCCTCCGAGCTCAGGGCCCTTCTCTTTCTCAGACACTCTTCTACACATCACCAAAGACTTTCAAGCCCAGCCCAATGGCCCTCCTCCCCACCTACACCCACCAAGTGAACACCCCCTCTTCATCAGTGCTCCTGCCACATTTGACCTCTGTTATACTCCAGGAAGGACAGTAAGCAGTGGCAGAAAAGGCAGGGCTGAGGGGACAAATGCAGCCCCTGCCACTCCCAGGCTGGGGAACCCTGGACACCCCTCAGACAGCCCTGACTGAACTGATTCTGCACACAGTTGACACAAAGTGAGACTGGATGGGCGATACCCCCCAACACACAAAGTTCTCTTCTCATCTGCCCAGATGAGGGCCCCTGCCTCAGCCACTGTTAGGGTCTCCCTTCTGCACCCTCCTTAGATGCCCCCACCTTGTGGTAGAGGGTGAGTGGGTCTGGCCGGCCAGGGGTGGGCTCCAGCTCCTCTAGATCTGCCAGGTTCCCTAAGGCCATGGGGTACCTAGGAAAGGATCATAATTCAGGCTGCCACCCAGCCCCCCGGCCTCACCAGGCGCAGCCTGGCCACTTCCCTCTACTGACCTTTCCAGATGTCCCAGGTCATAGAGCAGCCAGAGCAGCTTCTAGGAGCCGAAGGAGAGAGTTATGAGCCACGGAACAGGGAGGAGAACGGGTCCTTAGCCTATCGGGCAGAGGTGGGGGTCAGAACCAACAGGGACCACCCACCATGTGGAAGGGCCAAAATTCTGGGACCAGCCCTTTAATGGAGTCAAAGCAATTTCACATCTCAATTCTACTCTCCCAAGAGCCCTGGGAAAGGCCAGGCCAGGAATTACTAACCCATTTTTCCAGGAGGGGAAGCTGAAGCTCAGGAAGGGAAAGTGCCCCTGCCCAGGGTCCCACAGCAAGTCAAGTCTGGCCTAGCCCAGTCCTGCCCCATTGGCTCAGCCCTCACCTGCTGCAGCTGCAGAAGCTCCAGCGAGTCGGTGTGCAGGTCAATGGAAGGGTTGATGGCACACACCATGAACGCCACCTCCATCTTGCGGTCACAGCGCATGTATGATCCTTTCAGGTACAGCCAGCTCTTAGGGGGGGATGAGATCATTATGTCTCATGATGGCCCACCCTGTGCCTGCTTCAGGGAATGACAGCCAGGAAAAGGGGCTCTTCTGTCTTCCCTTCCTATGTGGGTGGTGATGGGAAGAAAGGGGTGTGGCCCAAGAAAATGGAGTCCCTTGGGTGGCTTGGGCTACTACAGTATGAAGGGGACAAGGCTGGGGGGAGGGAACAATACCCGCTCAGCCACACCGGCATTGACTGTCTGGCCCCTGCGGTCCTCGTTGCCCTTGCCGTGCCAGGTGACCTCAGCTGTCTGCTCCCCATTGGGCCCAAACACTACCCAGGCATGATCCTCAGACAGGGCGAGGTGGACATCCCGGAGACCCAGGGCCTGGCAGGCCCCAACCACAGCAAAGGCCACACCGGAGCTGTCCAATTTGGTGCCTGTGGAAGGGGGAGGTAATGAAAGAGGGTCCTCTGTGCTTTAACATGGGGAAAGGGGGCCAGGTAGTGATGGGCCACACTCCCTCCCACTCCCTTTCCAAGCCTGTGACCCAACCTCAGATTCTCCTGCCCACTATCCCTCCATCCCTTCCCTCCCACGTGTTCAAAGACTCTCTCCCTGTTTACACCCTCTATGTCCAACAAGATACCTTTCTGGATATCCTGTAGCTGACCCAGCCTTTGGCCCTACCTCGTCTTTCTCTGCAACTCTATTATATATTCTATGGATTTAGGGATTCCATTTTACTGCACTTACTAGGTTAAAACAGGAATGGCAAAAACAGGACGCTGGCCAACACTCTCTGGCTATACACCCACCAACAAATAACCCTCATTTATCTCTGCACTCTTTTCCTGCTAAGCTGAGAAGCAGCCTCTGATTCCTTCTCAATATGGCACACCAGGATGGGATTGCCAGTCAACCGGGCTTGGTGCAAAGCTCTTTGCAAGCCCTGACTCTTAAGCCTTTTGAGGTCAAGCCCCTTCTCTGTCTCAAACATTTTTGACCAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCTCGTCTCTACTAAAAATCCAAAAAAAAATTAGCCAGGCATGGTGGCAGGCTCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGGCAGGAGAATGGCATGAAAGCAGGAGGCAGAGCTTGCAGTGAGCCGAGATTGCACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACGCCGTCTGAAAAAAAAAAAAAAATTTTCATAGGCCACCAGTTGCGGTGGCTCACACCTGTAATCCCAGCATTTGGGAGACTGAGGCGGGCAGATCACTTGAGCCCAAGAGTTCAAGACCAGTCTGGGCCACATAGTGAGACACCATCTCTACAAAAAAAATACAAAAAATTAACCAGCACCACGGTGCATGCCTGTACTCTCAGCTACTCAGGAGGCTGAGGTTGGAGGATCTCTGAGCCCAGGGAGACTGAGGCTGCAGTGAGCCATGATCACACCACTGCACTCCAGCCTGGGGGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAATCTTCATAGCCATTATTTTGTTTAACTGCCTCAAATGCAGCCCAATTTCATCTTCTTGCCCCCTAAATCTGCTGCCGCCCTCTGTGTCTCATGCTTAGAACTCCTGTAGCTGTTCAGTGGCAAGGGTGGGGGTGCTGAGGGGGCAGAGGTGAGGTTGATGATTTGGAGCCAAGTGATCAGGCTTCACTTCCAGCCCTGCCATGCCGTGTGTGACTTTGGCATATCATTTCCCCTCTCTGGGCTTCAGTTTCCCAACTGCAAAGAGGAAAATAACACCTGCCGAACCTCACAAGGCTTACAGTTCTTAAAAGGGTTCTGTAAACCATGGAGGGTTTTGAAGAAGTGGGTCATGGATAAGATTCCCACCTACTGGGCTCCAACCTGTGATGAAGCTGAAGAGGGACTGGATGTGGGCCCGATCCTTGAAGTAGGAGCGGCTGAGGCTGTTCCATATGACATCGGAGACCTTCTTCACCAGCTCACGGCTGGAGACACCCCCTTCTCGAGGATAGAGGGACAGGTCGACGGCGCCTCGGATCTGGGCGGTGAAGCGGGCATAGAGGGCGGCGATGATAGACAGGTCGGCCACGGGAAAGTAGGTGAGGCCGCCAGGCGGGTCGGGGGCGGGGCTGGGCTGGAAGGTGAGCTCGGGAACGTTGGTAGGGATGACGCGGTTGACAGCCAGAAAATGCTCCACGAAGCCCAGCACCAAGGAAAGGAGCACCAGGTCCGGCTCCTCTCGGCCCAGCTCGGCAGCAAACAGGCGCACCACGTCGTCGATG | ACTGCTGGATGATGGTGGTTAAACATTGGAGATTTGAGACTGTTCTGAGAAAAAAAAAATTAGGAGGAGAGGGGAGGGAGGGAAAGATGTGACACCTTAATCAGGGTCCCTACCTCCTGGGTAATGGTGGCCTTGCTGCCTAGGGACTGGATGGAAAGGGGATGGGGCGTGGGAGCCAGGCCTCAGTCCTGGACGAGGGTGGTTGGAAACTGATGGAGGGGAAGAAAGGACAGGCTGCAGGCCCTAGTAGGGGGATCCTCACTCCTGGATGACAGTGGCCGTGTCCGCCCAGGCCTGCAGGGCTTCCCGCACATTGCGGTTGCGACAGTGGTAGCCAGCCAGGTACATGTAGGGGTAGATGTGTTCATCCCGATAGTAGGTCTTGGCTGAGGCAATGCCCTGGATGGAGGTGAGGCAGAGGATCCTCAGGGAGGCAGCCCCAGCTGCCCTGCTGGCACAAATGCCCCACCAGGGCACACCCAGAAGGGGCCACAGGAAGATCCCAGGGAGTCCTCTCCATCTCCACTCCCACCTCCACTCGCTGCCAGCCCTTCTACCTGGTCTCCTCCCTGGGTCTACAGGACTGCTGGCTGAGGCCTGGGGCAGACTGCAGGGGTGGGGCCTGCCCTCCGAGCTCAGGGCCCTTCTCTTTCTCAGACACTCTTCTACACATCACCAAAGACTTTCAAGCCCAGCCCAATGGCCCTCCTCCCCACCTACACCCACCAAGTGAACACCCCCTCTTCATCAGTGCTCCTGCCACATTTGACCTCTGTTATACTCCAGGAAGGACAGTAAGCAGTGGCAGAAAAGGCAGGGCTGAGGGGACAAATGCAGCCCCTGCCACTCCCAGGCTGGGGAACCCTGGACACCCCTCAGACAGCCCTGACTGAACTGATTCTGCACACAGTTGACACAAAGTGAGACTGGATGGGCGATACCCCCCAACACACAAAGTTCTCTTCTCATCTGCCCAGATGAGGGCCCCTGCCTCAGCCACTGTTAGGGTCTCCCTTCTGCACCCTCCTTAGATGCCCCCACCTTGTGGTAGAGGGTGAGTGGGTCTGGCCGGCCAGGGGTGGGCTCCAGCTCCTCTAGATCTGCCAGGTTCCCTAAGGCCATGGGGTACCTAGGAAAGGATCATAATTCAGGCTGCCACCCAGCCCCCCGGCCTCACCAGGCGCAGCCTGGCCACTTCCCTCTACTGACCTTTCCAGATGTCCCAGGTCATAGAGCAGCCAGAGCAGCTTCTAGGAGCCGAAGGAGAGAGTTATGAGCCACGGAACAGGGAGGAGAACGGGTCCTTAGCCTATCGGGCAGAGGTGGGGGTCAGAACCAACAGGGACCACCCACCATGTGGAAGGGCCAAAATTCTGGGACCAGCCCTTTAATGGAGTCAAAGCAATTTCACATCTCAATTCTACTCTCCCAAGAGCCCTGGGAAAGGCCAGGCCAGGAATTACTAACCCATTTTTCCAGGAGGGGAAGCTGAAGCTCAGGAAGGGAAAGTGCCCCTGCCCAGGGTCCCACAGCAAGTCAAGTCTGGCCTAGCCCAGTCCTGCCCCATTGGCTCAGCCCTCACCTGCTGCAGCTGCAGAAGCTCCAGCGAGTCGGTGTGCAGGTCAATGGAAGGGTTGATGGCACACACCATGAACGCCACCTCCATCTTGCGGTCACAGCGCATGTATGATCCTTTCAGGTACAGCCAGCTCTTAGGGGGGGATGAGATCATTATGTCTCATGATGGCCCACCCTGTGCCTGCTTCAGGGAATGACAGCCAGGAAAAGGGGCTCTTCTGTCTTCCCTTCCTATGTGGGTGGTGATGGGAAGAAAGGGGTGTGGCCCAAGAAAATGGAGTCCCTTGGGTGGCTTGGGCTACTACAGTATGAAGGGGACAAGGCTGGGGGGAGGGAACAATACCCGCTCAGCCACACCGGCATTGACTGTCTGGCCCCTGCGGTCCTCGTTGCCCTTGCCGTGCCAGGTGACCTCAGCTGTCTGCTCCCCATTGGGCCCAAACACTACCCAGGCATGATCCTCAGACAGGGGAGGTGGACATCCCGGAGACCCAGGGCCTGGCAGGCCCCAACCACAGCAAAGGCCACACCGGAGCTGTCCAATTTGGTGCCTGTGGAAGGGGGAGGTAATGAAAGAGGGTCCTCTGTGCTTTAACATGGGGAAAGGGGGCCAGGTAGTGATGGGCCACACTCCCTCCCACTCCCTTTCCAAGCCTGTGACCCAACCTCAGATTCTCCTGCCCACTATCCCTCCATCCCTTCCCTCCCACGTGTTCAAAGACTCTCTCCCTGTTTACACCCTCTATGTCCAACAAGATACCTTTCTGGATATCCTGTAGCTGACCCAGCCTTTGGCCCTACCTCGTCTTTCTCTGCAACTCTATTATATATTCTATGGATTTAGGGATTCCATTTTACTGCACTTACTAGGTTAAAACAGGAATGGCAAAAACAGGACGCTGGCCAACACTCTCTGGCTATACACCCACCAACAAATAACCCTCATTTATCTCTGCACTCTTTTCCTGCTAAGCTGAGAAGCAGCCTCTGATTCCTTCTCAATATGGCACACCAGGATGGGATTGCCAGTCAACCGGGCTTGGTGCAAAGCTCTTTGCAAGCCCTGACTCTTAAGCCTTTTGAGGTCAAGCCCCTTCTCTGTCTCAAACATTTTTGACCAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCTCGTCTCTACTAAAAATCCAAAAAAAAATTAGCCAGGCATGGTGGCAGGCTCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGGCAGGAGAATGGCATGAAAGCAGGAGGCAGAGCTTGCAGTGAGCCGAGATTGCACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACGCCGTCTGAAAAAAAAAAAAAAATTTTCATAGGCCACCAGTTGCGGTGGCTCACACCTGTAATCCCAGCATTTGGGAGACTGAGGCGGGCAGATCACTTGAGCCCAAGAGTTCAAGACCAGTCTGGGCCACATAGTGAGACACCATCTCTACAAAAAAAATACAAAAAATTAACCAGCACCACGGTGCATGCCTGTACTCTCAGCTACTCAGGAGGCTGAGGTTGGAGGATCTCTGAGCCCAGGGAGACTGAGGCTGCAGTGAGCCATGATCACACCACTGCACTCCAGCCTGGGGGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAATCTTCATAGCCATTATTTTGTTTAACTGCCTCAAATGCAGCCCAATTTCATCTTCTTGCCCCCTAAATCTGCTGCCGCCCTCTGTGTCTCATGCTTAGAACTCCTGTAGCTGTTCAGTGGCAAGGGTGGGGGTGCTGAGGGGGCAGAGGTGAGGTTGATGATTTGGAGCCAAGTGATCAGGCTTCACTTCCAGCCCTGCCATGCCGTGTGTGACTTTGGCATATCATTTCCCCTCTCTGGGCTTCAGTTTCCCAACTGCAAAGAGGAAAATAACACCTGCCGAACCTCACAAGGCTTACAGTTCTTAAAAGGGTTCTGTAAACCATGGAGGGTTTTGAAGAAGTGGGTCATGGATAAGATTCCCACCTACTGGGCTCCAACCTGTGATGAAGCTGAAGAGGGACTGGATGTGGGCCCGATCCTTGAAGTAGGAGCGGCTGAGGCTGTTCCATATGACATCGGAGACCTTCTTCACCAGCTCACGGCTGGAGACACCCCCTTCTCGAGGATAGAGGGACAGGTCGACGGCGCCTCGGATCTGGGCGGTGAAGCGGGCATAGAGGGCGGCGATGATAGACAGGTCGGCCACGGGAAAGTAGGTGAGGCCGCCAGGCGGGTCGGGGGCGGGGCTGGGCTGGAAGGTGAGCTCGGGAACGTTGGTAGGGATGACGCGGTTGACAGCCAGAAAATGCTCCACGAAGCCCAGCACCAAGGAAAGGAGCACCAGGTCCGGCTCCTCTCGGCCCAGCTCGGCAGCAAACAGGCGCACCACGTCGTCGATGN | pathogenic | 177,964 |
Gene MEN1 (menin 1) variant at chromosome position 64809667 on chromosome 11: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Multiple_endocrine_neoplasia,_type_1'] | ATGAACGCCACCTCCATCTTGCGGTCACAGCGCATGTATGATCCTTTCAGGTACAGCCAGCTCTTAGGGGGGGATGAGATCATTATGTCTCATGATGGCCCACCCTGTGCCTGCTTCAGGGAATGACAGCCAGGAAAAGGGGCTCTTCTGTCTTCCCTTCCTATGTGGGTGGTGATGGGAAGAAAGGGGTGTGGCCCAAGAAAATGGAGTCCCTTGGGTGGCTTGGGCTACTACAGTATGAAGGGGACAAGGCTGGGGGGAGGGAACAATACCCGCTCAGCCACACCGGCATTGACTGTCTGGCCCCTGCGGTCCTCGTTGCCCTTGCCGTGCCAGGTGACCTCAGCTGTCTGCTCCCCATTGGGCCCAAACACTACCCAGGCATGATCCTCAGACAGGGCGAGGTGGACATCCCGGAGACCCAGGGCCTGGCAGGCCCCAACCACAGCAAAGGCCACACCGGAGCTGTCCAATTTGGTGCCTGTGGAAGGGGGAGGTAATGAAAGAGGGTCCTCTGTGCTTTAACATGGGGAAAGGGGGCCAGGTAGTGATGGGCCACACTCCCTCCCACTCCCTTTCCAAGCCTGTGACCCAACCTCAGATTCTCCTGCCCACTATCCCTCCATCCCTTCCCTCCCACGTGTTCAAAGACTCTCTCCCTGTTTACACCCTCTATGTCCAACAAGATACCTTTCTGGATATCCTGTAGCTGACCCAGCCTTTGGCCCTACCTCGTCTTTCTCTGCAACTCTATTATATATTCTATGGATTTAGGGATTCCATTTTACTGCACTTACTAGGTTAAAACAGGAATGGCAAAAACAGGACGCTGGCCAACACTCTCTGGCTATACACCCACCAACAAATAACCCTCATTTATCTCTGCACTCTTTTCCTGCTAAGCTGAGAAGCAGCCTCTGATTCCTTCTCAATATGGCACACCAGGATGGGATTGCCAGTCAACCGGGCTTGGTGCAAAGCTCTTTGCAAGCCCTGACTCTTAAGCCTTTTGAGGTCAAGCCCCTTCTCTGTCTCAAACATTTTTGACCAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCTCGTCTCTACTAAAAATCCAAAAAAAAATTAGCCAGGCATGGTGGCAGGCTCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGGCAGGAGAATGGCATGAAAGCAGGAGGCAGAGCTTGCAGTGAGCCGAGATTGCACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACGCCGTCTGAAAAAAAAAAAAAAATTTTCATAGGCCACCAGTTGCGGTGGCTCACACCTGTAATCCCAGCATTTGGGAGACTGAGGCGGGCAGATCACTTGAGCCCAAGAGTTCAAGACCAGTCTGGGCCACATAGTGAGACACCATCTCTACAAAAAAAATACAAAAAATTAACCAGCACCACGGTGCATGCCTGTACTCTCAGCTACTCAGGAGGCTGAGGTTGGAGGATCTCTGAGCCCAGGGAGACTGAGGCTGCAGTGAGCCATGATCACACCACTGCACTCCAGCCTGGGGGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAATCTTCATAGCCATTATTTTGTTTAACTGCCTCAAATGCAGCCCAATTTCATCTTCTTGCCCCCTAAATCTGCTGCCGCCCTCTGTGTCTCATGCTTAGAACTCCTGTAGCTGTTCAGTGGCAAGGGTGGGGGTGCTGAGGGGGCAGAGGTGAGGTTGATGATTTGGAGCCAAGTGATCAGGCTTCACTTCCAGCCCTGCCATGCCGTGTGTGACTTTGGCATATCATTTCCCCTCTCTGGGCTTCAGTTTCCCAACTGCAAAGAGGAAAATAACACCTGCCGAACCTCACAAGGCTTACAGTTCTTAAAAGGGTTCTGTAAACCATGGAGGGTTTTGAAGAAGTGGGTCATGGATAAGATTCCCACCTACTGGGCTCCAACCTGTGATGAAGCTGAAGAGGGACTGGATGTGGGCCCGATCCTTGAAGTAGGAGCGGCTGAGGCTGTTCCATATGACATCGGAGACCTTCTTCACCAGCTCACGGCTGGAGACACCCCCTTCTCGAGGATAGAGGGACAGGTCGACGGCGCCTCGGATCTGGGCGGTGAAGCGGGCATAGAGGGCGGCGATGATAGACAGGTCGGCCACGGGAAAGTAGGTGAGGCCGCCAGGCGGGTCGGGGGCGGGGCTGGGCTGGAAGGTGAGCTCGGGAACGTTGGTAGGGATGACGCGGTTGACAGCCAGAAAATGCTCCACGAAGCCCAGCACCAAGGAAAGGAGCACCAGGTCCGGCTCCTCTCGGCCCAGCTCGGCAGCAAACAGGCGCACCACGTCGTCGATGGAGCGCAGCGGGAACAGCGTCTTCTGGGCGGCCTTCAGCCCCATGGCGGCGGGCGGTGGGCGGCGGCCTGCAAGGCAAGCCGGGGGAGGGAGGGTCGGGCAGGTTCGGCCGGGGAGCCTCCTCCCAGGGTCCGCTAAGGTTCCACCCGCCCCGACACACGCACAGCTCCCCTGCTTCCCCACCCTCTTCAGCCTCTGCTCACCGGCTTCCCCTCTTTTGTCGGTGAGACCCCTCAGCCGAGACTGCAGAGCCTTTTTGTCCCCCACAATTCCGGGACGCCCGGTACCCGATGGGGTGCGCCCCAAGCACCCCAATGAGGAGCCCCAATGGCCGCCCCGCCCCCTCTCTACGACTGTGCCCCCGGGGCTGTAAAGTCTGTCCAGAAAGCGCACCCAGGTCAAGCCCCCAAACCCCAAGGAGAGTCCTGGCCTCGGTCCCCCTCGCCCACCTCCGCGCTTACATCCCACACTAGGCACCGCGGCGCACGCCGCCCGGAGCCTGCTGGGACATGAAGTCCCGCCCCTAGGGTCGCACTACCCGCCGGGAAGTGGAGTCTGGGCCCACCCCTGCCCCGCTGAGCCTGGAAATAGTGGCGGGCCGGGCCGCTGCGCTGTGGCTTCTGGGATCTCTAGGTCCGCGGCTCCGGACACCTCCTTCCCGAGATACTCAGGGATTGGCCCTTCCCTTCAGGCCGACCAGGCAGGAAGCGTGCCCGCAGTGCCTTCTGGAAAATGTAGTCCGGGGGCACTACCTGCAGACTCGGGGTGGGAGGTCGCCGAGCTTCTGCCGGTTTTGCTGTCACGGGTCGGTCGGCAAGTTATGAGGAAAAAGATCAGGTTGCTTGATCCAGAAAAAATTAAAATAAAACAATATGAGAAAAACAGATACTTTTAAACACTGCCAGAGAGTAAATGTGTTCAGCCGCTTTAGCTGGGTATCAGTGTCTGTTAACATATAAAGATGCCTACTCTGTGTGCAGCACTCGTTTCCCACTTCCGCCCGCGAGATACTCTAACACGTGCTAAGAGTAGCTTTTGTTTGTTTGTTTTGAGACACGGTCTTTCTCTTTCGCCCAGGCTGGAATGCAGTGGCTCGATCTGGGCTCACTGCAGCCTCGACTTCACGGGCTCAAGCGATTCTCGTGCCTCAGCCTCCCGAGTAGCTGTGATCACAGGCGTGCGCCACCACTCCCGCCTAATTTTGTGTGTATGTGCATATACATAAATATATATACATATAACACACACACACACACACACACACACACATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGCAGAGACAGGGATTCCCAGCTACTTGGGAGGCTGAGGCGCGGGGAATCCCTTGAACCTGGGAGGCGGAGGCTTCAGTGAGCCAGAATCTTGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGATTCCGTCTTAAAAAAAAGTCCCAAGTAGCTGGGATTATAGGCGTCCGCCACCACACCCAGAAAACTTTTTGTATTTTAAGTAGAGATGGGGTTTCACCATGTTGGCCAGACTGGTCTCGAACCCCTAACCTCAAGTGATCTGCCCGCCTCAGCCTCCCAAAGTGCTAAAATTACAGGCGTGAACCACCTTACCCGGCCAAA | ATGAACGCCACCTCCATCTTGCGGTCACAGCGCATGTATGATCCTTTCAGGTACAGCCAGCTCTTAGGGGGGGATGAGATCATTATGTCTCATGATGGCCCACCCTGTGCCTGCTTCAGGGAATGACAGCCAGGAAAAGGGGCTCTTCTGTCTTCCCTTCCTATGTGGGTGGTGATGGGAAGAAAGGGGTGTGGCCCAAGAAAATGGAGTCCCTTGGGTGGCTTGGGCTACTACAGTATGAAGGGGACAAGGCTGGGGGGAGGGAACAATACCCGCTCAGCCACACCGGCATTGACTGTCTGGCCCCTGCGGTCCTCGTTGCCCTTGCCGTGCCAGGTGACCTCAGCTGTCTGCTCCCCATTGGGCCCAAACACTACCCAGGCATGATCCTCAGACAGGGCGAGGTGGACATCCCGGAGACCCAGGGCCTGGCAGGCCCCAACCACAGCAAAGGCCACACCGGAGCTGTCCAATTTGGTGCCTGTGGAAGGGGGAGGTAATGAAAGAGGGTCCTCTGTGCTTTAACATGGGGAAAGGGGGCCAGGTAGTGATGGGCCACACTCCCTCCCACTCCCTTTCCAAGCCTGTGACCCAACCTCAGATTCTCCTGCCCACTATCCCTCCATCCCTTCCCTCCCACGTGTTCAAAGACTCTCTCCCTGTTTACACCCTCTATGTCCAACAAGATACCTTTCTGGATATCCTGTAGCTGACCCAGCCTTTGGCCCTACCTCGTCTTTCTCTGCAACTCTATTATATATTCTATGGATTTAGGGATTCCATTTTACTGCACTTACTAGGTTAAAACAGGAATGGCAAAAACAGGACGCTGGCCAACACTCTCTGGCTATACACCCACCAACAAATAACCCTCATTTATCTCTGCACTCTTTTCCTGCTAAGCTGAGAAGCAGCCTCTGATTCCTTCTCAATATGGCACACCAGGATGGGATTGCCAGTCAACCGGGCTTGGTGCAAAGCTCTTTGCAAGCCCTGACTCTTAAGCCTTTTGAGGTCAAGCCCCTTCTCTGTCTCAAACATTTTTGACCAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCTCGTCTCTACTAAAAATCCAAAAAAAAATTAGCCAGGCATGGTGGCAGGCTCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGGCAGGAGAATGGCATGAAAGCAGGAGGCAGAGCTTGCAGTGAGCCGAGATTGCACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACGCCGTCTGAAAAAAAAAAAAAAATTTTCATAGGCCACCAGTTGCGGTGGCTCACACCTGTAATCCCAGCATTTGGGAGACTGAGGCGGGCAGATCACTTGAGCCCAAGAGTTCAAGACCAGTCTGGGCCACATAGTGAGACACCATCTCTACAAAAAAAATACAAAAAATTAACCAGCACCACGGTGCATGCCTGTACTCTCAGCTACTCAGGAGGCTGAGGTTGGAGGATCTCTGAGCCCAGGGAGACTGAGGCTGCAGTGAGCCATGATCACACCACTGCACTCCAGCCTGGGGGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAATCTTCATAGCCATTATTTTGTTTAACTGCCTCAAATGCAGCCCAATTTCATCTTCTTGCCCCCTAAATCTGCTGCCGCCCTCTGTGTCTCATGCTTAGAACTCCTGTAGCTGTTCAGTGGCAAGGGTGGGGGTGCTGAGGGGGCAGAGGTGAGGTTGATGATTTGGAGCCAAGTGATCAGGCTTCACTTCCAGCCCTGCCATGCCGTGTGTGACTTTGGCATATCATTTCCCCTCTCTGGGCTTCAGTTTCCCAACTGCAAAGAGGAAAATAACACCTGCCGAACCTCACAAGGCTTACAGTTCTTAAAAGGGTTCTGTAAACCATGGAGGGTTTTGAAGAAGTGGGTCATGGATAAGATTCCCACCTACTGGGCTCCAACCTGGATGAAGCTGAAGAGGGACTGGATGTGGGCCCGATCCTTGAAGTAGGAGCGGCTGAGGCTGTTCCATATGACATCGGAGACCTTCTTCACCAGCTCACGGCTGGAGACACCCCCTTCTCGAGGATAGAGGGACAGGTCGACGGCGCCTCGGATCTGGGCGGTGAAGCGGGCATAGAGGGCGGCGATGATAGACAGGTCGGCCACGGGAAAGTAGGTGAGGCCGCCAGGCGGGTCGGGGGCGGGGCTGGGCTGGAAGGTGAGCTCGGGAACGTTGGTAGGGATGACGCGGTTGACAGCCAGAAAATGCTCCACGAAGCCCAGCACCAAGGAAAGGAGCACCAGGTCCGGCTCCTCTCGGCCCAGCTCGGCAGCAAACAGGCGCACCACGTCGTCGATGGAGCGCAGCGGGAACAGCGTCTTCTGGGCGGCCTTCAGCCCCATGGCGGCGGGCGGTGGGCGGCGGCCTGCAAGGCAAGCCGGGGGAGGGAGGGTCGGGCAGGTTCGGCCGGGGAGCCTCCTCCCAGGGTCCGCTAAGGTTCCACCCGCCCCGACACACGCACAGCTCCCCTGCTTCCCCACCCTCTTCAGCCTCTGCTCACCGGCTTCCCCTCTTTTGTCGGTGAGACCCCTCAGCCGAGACTGCAGAGCCTTTTTGTCCCCCACAATTCCGGGACGCCCGGTACCCGATGGGGTGCGCCCCAAGCACCCCAATGAGGAGCCCCAATGGCCGCCCCGCCCCCTCTCTACGACTGTGCCCCCGGGGCTGTAAAGTCTGTCCAGAAAGCGCACCCAGGTCAAGCCCCCAAACCCCAAGGAGAGTCCTGGCCTCGGTCCCCCTCGCCCACCTCCGCGCTTACATCCCACACTAGGCACCGCGGCGCACGCCGCCCGGAGCCTGCTGGGACATGAAGTCCCGCCCCTAGGGTCGCACTACCCGCCGGGAAGTGGAGTCTGGGCCCACCCCTGCCCCGCTGAGCCTGGAAATAGTGGCGGGCCGGGCCGCTGCGCTGTGGCTTCTGGGATCTCTAGGTCCGCGGCTCCGGACACCTCCTTCCCGAGATACTCAGGGATTGGCCCTTCCCTTCAGGCCGACCAGGCAGGAAGCGTGCCCGCAGTGCCTTCTGGAAAATGTAGTCCGGGGGCACTACCTGCAGACTCGGGGTGGGAGGTCGCCGAGCTTCTGCCGGTTTTGCTGTCACGGGTCGGTCGGCAAGTTATGAGGAAAAAGATCAGGTTGCTTGATCCAGAAAAAATTAAAATAAAACAATATGAGAAAAACAGATACTTTTAAACACTGCCAGAGAGTAAATGTGTTCAGCCGCTTTAGCTGGGTATCAGTGTCTGTTAACATATAAAGATGCCTACTCTGTGTGCAGCACTCGTTTCCCACTTCCGCCCGCGAGATACTCTAACACGTGCTAAGAGTAGCTTTTGTTTGTTTGTTTTGAGACACGGTCTTTCTCTTTCGCCCAGGCTGGAATGCAGTGGCTCGATCTGGGCTCACTGCAGCCTCGACTTCACGGGCTCAAGCGATTCTCGTGCCTCAGCCTCCCGAGTAGCTGTGATCACAGGCGTGCGCCACCACTCCCGCCTAATTTTGTGTGTATGTGCATATACATAAATATATATACATATAACACACACACACACACACACACACACACATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGCAGAGACAGGGATTCCCAGCTACTTGGGAGGCTGAGGCGCGGGGAATCCCTTGAACCTGGGAGGCGGAGGCTTCAGTGAGCCAGAATCTTGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGATTCCGTCTTAAAAAAAAGTCCCAAGTAGCTGGGATTATAGGCGTCCGCCACCACACCCAGAAAACTTTTTGTATTTTAAGTAGAGATGGGGTTTCACCATGTTGGCCAGACTGGTCTCGAACCCCTAACCTCAAGTGATCTGCCCGCCTCAGCCTCCCAAAGTGCTAAAATTACAGGCGTGAACCACCTTACCCGGCCAAAN | pathogenic | 178,001 |
Does the chromosome 11 mutation at position 64809677 within gene MEN1 (menin 1) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Multiple_endocrine_neoplasia,_type_1'] | CCTCCATCTTGCGGTCACAGCGCATGTATGATCCTTTCAGGTACAGCCAGCTCTTAGGGGGGGATGAGATCATTATGTCTCATGATGGCCCACCCTGTGCCTGCTTCAGGGAATGACAGCCAGGAAAAGGGGCTCTTCTGTCTTCCCTTCCTATGTGGGTGGTGATGGGAAGAAAGGGGTGTGGCCCAAGAAAATGGAGTCCCTTGGGTGGCTTGGGCTACTACAGTATGAAGGGGACAAGGCTGGGGGGAGGGAACAATACCCGCTCAGCCACACCGGCATTGACTGTCTGGCCCCTGCGGTCCTCGTTGCCCTTGCCGTGCCAGGTGACCTCAGCTGTCTGCTCCCCATTGGGCCCAAACACTACCCAGGCATGATCCTCAGACAGGGCGAGGTGGACATCCCGGAGACCCAGGGCCTGGCAGGCCCCAACCACAGCAAAGGCCACACCGGAGCTGTCCAATTTGGTGCCTGTGGAAGGGGGAGGTAATGAAAGAGGGTCCTCTGTGCTTTAACATGGGGAAAGGGGGCCAGGTAGTGATGGGCCACACTCCCTCCCACTCCCTTTCCAAGCCTGTGACCCAACCTCAGATTCTCCTGCCCACTATCCCTCCATCCCTTCCCTCCCACGTGTTCAAAGACTCTCTCCCTGTTTACACCCTCTATGTCCAACAAGATACCTTTCTGGATATCCTGTAGCTGACCCAGCCTTTGGCCCTACCTCGTCTTTCTCTGCAACTCTATTATATATTCTATGGATTTAGGGATTCCATTTTACTGCACTTACTAGGTTAAAACAGGAATGGCAAAAACAGGACGCTGGCCAACACTCTCTGGCTATACACCCACCAACAAATAACCCTCATTTATCTCTGCACTCTTTTCCTGCTAAGCTGAGAAGCAGCCTCTGATTCCTTCTCAATATGGCACACCAGGATGGGATTGCCAGTCAACCGGGCTTGGTGCAAAGCTCTTTGCAAGCCCTGACTCTTAAGCCTTTTGAGGTCAAGCCCCTTCTCTGTCTCAAACATTTTTGACCAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCTCGTCTCTACTAAAAATCCAAAAAAAAATTAGCCAGGCATGGTGGCAGGCTCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGGCAGGAGAATGGCATGAAAGCAGGAGGCAGAGCTTGCAGTGAGCCGAGATTGCACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACGCCGTCTGAAAAAAAAAAAAAAATTTTCATAGGCCACCAGTTGCGGTGGCTCACACCTGTAATCCCAGCATTTGGGAGACTGAGGCGGGCAGATCACTTGAGCCCAAGAGTTCAAGACCAGTCTGGGCCACATAGTGAGACACCATCTCTACAAAAAAAATACAAAAAATTAACCAGCACCACGGTGCATGCCTGTACTCTCAGCTACTCAGGAGGCTGAGGTTGGAGGATCTCTGAGCCCAGGGAGACTGAGGCTGCAGTGAGCCATGATCACACCACTGCACTCCAGCCTGGGGGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAATCTTCATAGCCATTATTTTGTTTAACTGCCTCAAATGCAGCCCAATTTCATCTTCTTGCCCCCTAAATCTGCTGCCGCCCTCTGTGTCTCATGCTTAGAACTCCTGTAGCTGTTCAGTGGCAAGGGTGGGGGTGCTGAGGGGGCAGAGGTGAGGTTGATGATTTGGAGCCAAGTGATCAGGCTTCACTTCCAGCCCTGCCATGCCGTGTGTGACTTTGGCATATCATTTCCCCTCTCTGGGCTTCAGTTTCCCAACTGCAAAGAGGAAAATAACACCTGCCGAACCTCACAAGGCTTACAGTTCTTAAAAGGGTTCTGTAAACCATGGAGGGTTTTGAAGAAGTGGGTCATGGATAAGATTCCCACCTACTGGGCTCCAACCTGTGATGAAGCTGAAGAGGGACTGGATGTGGGCCCGATCCTTGAAGTAGGAGCGGCTGAGGCTGTTCCATATGACATCGGAGACCTTCTTCACCAGCTCACGGCTGGAGACACCCCCTTCTCGAGGATAGAGGGACAGGTCGACGGCGCCTCGGATCTGGGCGGTGAAGCGGGCATAGAGGGCGGCGATGATAGACAGGTCGGCCACGGGAAAGTAGGTGAGGCCGCCAGGCGGGTCGGGGGCGGGGCTGGGCTGGAAGGTGAGCTCGGGAACGTTGGTAGGGATGACGCGGTTGACAGCCAGAAAATGCTCCACGAAGCCCAGCACCAAGGAAAGGAGCACCAGGTCCGGCTCCTCTCGGCCCAGCTCGGCAGCAAACAGGCGCACCACGTCGTCGATGGAGCGCAGCGGGAACAGCGTCTTCTGGGCGGCCTTCAGCCCCATGGCGGCGGGCGGTGGGCGGCGGCCTGCAAGGCAAGCCGGGGGAGGGAGGGTCGGGCAGGTTCGGCCGGGGAGCCTCCTCCCAGGGTCCGCTAAGGTTCCACCCGCCCCGACACACGCACAGCTCCCCTGCTTCCCCACCCTCTTCAGCCTCTGCTCACCGGCTTCCCCTCTTTTGTCGGTGAGACCCCTCAGCCGAGACTGCAGAGCCTTTTTGTCCCCCACAATTCCGGGACGCCCGGTACCCGATGGGGTGCGCCCCAAGCACCCCAATGAGGAGCCCCAATGGCCGCCCCGCCCCCTCTCTACGACTGTGCCCCCGGGGCTGTAAAGTCTGTCCAGAAAGCGCACCCAGGTCAAGCCCCCAAACCCCAAGGAGAGTCCTGGCCTCGGTCCCCCTCGCCCACCTCCGCGCTTACATCCCACACTAGGCACCGCGGCGCACGCCGCCCGGAGCCTGCTGGGACATGAAGTCCCGCCCCTAGGGTCGCACTACCCGCCGGGAAGTGGAGTCTGGGCCCACCCCTGCCCCGCTGAGCCTGGAAATAGTGGCGGGCCGGGCCGCTGCGCTGTGGCTTCTGGGATCTCTAGGTCCGCGGCTCCGGACACCTCCTTCCCGAGATACTCAGGGATTGGCCCTTCCCTTCAGGCCGACCAGGCAGGAAGCGTGCCCGCAGTGCCTTCTGGAAAATGTAGTCCGGGGGCACTACCTGCAGACTCGGGGTGGGAGGTCGCCGAGCTTCTGCCGGTTTTGCTGTCACGGGTCGGTCGGCAAGTTATGAGGAAAAAGATCAGGTTGCTTGATCCAGAAAAAATTAAAATAAAACAATATGAGAAAAACAGATACTTTTAAACACTGCCAGAGAGTAAATGTGTTCAGCCGCTTTAGCTGGGTATCAGTGTCTGTTAACATATAAAGATGCCTACTCTGTGTGCAGCACTCGTTTCCCACTTCCGCCCGCGAGATACTCTAACACGTGCTAAGAGTAGCTTTTGTTTGTTTGTTTTGAGACACGGTCTTTCTCTTTCGCCCAGGCTGGAATGCAGTGGCTCGATCTGGGCTCACTGCAGCCTCGACTTCACGGGCTCAAGCGATTCTCGTGCCTCAGCCTCCCGAGTAGCTGTGATCACAGGCGTGCGCCACCACTCCCGCCTAATTTTGTGTGTATGTGCATATACATAAATATATATACATATAACACACACACACACACACACACACACACATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGCAGAGACAGGGATTCCCAGCTACTTGGGAGGCTGAGGCGCGGGGAATCCCTTGAACCTGGGAGGCGGAGGCTTCAGTGAGCCAGAATCTTGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGATTCCGTCTTAAAAAAAAGTCCCAAGTAGCTGGGATTATAGGCGTCCGCCACCACACCCAGAAAACTTTTTGTATTTTAAGTAGAGATGGGGTTTCACCATGTTGGCCAGACTGGTCTCGAACCCCTAACCTCAAGTGATCTGCCCGCCTCAGCCTCCCAAAGTGCTAAAATTACAGGCGTGAACCACCTTACCCGGCCAAAGAGTAGTTAT | CCTCCATCTTGCGGTCACAGCGCATGTATGATCCTTTCAGGTACAGCCAGCTCTTAGGGGGGGATGAGATCATTATGTCTCATGATGGCCCACCCTGTGCCTGCTTCAGGGAATGACAGCCAGGAAAAGGGGCTCTTCTGTCTTCCCTTCCTATGTGGGTGGTGATGGGAAGAAAGGGGTGTGGCCCAAGAAAATGGAGTCCCTTGGGTGGCTTGGGCTACTACAGTATGAAGGGGACAAGGCTGGGGGGAGGGAACAATACCCGCTCAGCCACACCGGCATTGACTGTCTGGCCCCTGCGGTCCTCGTTGCCCTTGCCGTGCCAGGTGACCTCAGCTGTCTGCTCCCCATTGGGCCCAAACACTACCCAGGCATGATCCTCAGACAGGGCGAGGTGGACATCCCGGAGACCCAGGGCCTGGCAGGCCCCAACCACAGCAAAGGCCACACCGGAGCTGTCCAATTTGGTGCCTGTGGAAGGGGGAGGTAATGAAAGAGGGTCCTCTGTGCTTTAACATGGGGAAAGGGGGCCAGGTAGTGATGGGCCACACTCCCTCCCACTCCCTTTCCAAGCCTGTGACCCAACCTCAGATTCTCCTGCCCACTATCCCTCCATCCCTTCCCTCCCACGTGTTCAAAGACTCTCTCCCTGTTTACACCCTCTATGTCCAACAAGATACCTTTCTGGATATCCTGTAGCTGACCCAGCCTTTGGCCCTACCTCGTCTTTCTCTGCAACTCTATTATATATTCTATGGATTTAGGGATTCCATTTTACTGCACTTACTAGGTTAAAACAGGAATGGCAAAAACAGGACGCTGGCCAACACTCTCTGGCTATACACCCACCAACAAATAACCCTCATTTATCTCTGCACTCTTTTCCTGCTAAGCTGAGAAGCAGCCTCTGATTCCTTCTCAATATGGCACACCAGGATGGGATTGCCAGTCAACCGGGCTTGGTGCAAAGCTCTTTGCAAGCCCTGACTCTTAAGCCTTTTGAGGTCAAGCCCCTTCTCTGTCTCAAACATTTTTGACCAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCTCGTCTCTACTAAAAATCCAAAAAAAAATTAGCCAGGCATGGTGGCAGGCTCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGGCAGGAGAATGGCATGAAAGCAGGAGGCAGAGCTTGCAGTGAGCCGAGATTGCACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACGCCGTCTGAAAAAAAAAAAAAAATTTTCATAGGCCACCAGTTGCGGTGGCTCACACCTGTAATCCCAGCATTTGGGAGACTGAGGCGGGCAGATCACTTGAGCCCAAGAGTTCAAGACCAGTCTGGGCCACATAGTGAGACACCATCTCTACAAAAAAAATACAAAAAATTAACCAGCACCACGGTGCATGCCTGTACTCTCAGCTACTCAGGAGGCTGAGGTTGGAGGATCTCTGAGCCCAGGGAGACTGAGGCTGCAGTGAGCCATGATCACACCACTGCACTCCAGCCTGGGGGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAATCTTCATAGCCATTATTTTGTTTAACTGCCTCAAATGCAGCCCAATTTCATCTTCTTGCCCCCTAAATCTGCTGCCGCCCTCTGTGTCTCATGCTTAGAACTCCTGTAGCTGTTCAGTGGCAAGGGTGGGGGTGCTGAGGGGGCAGAGGTGAGGTTGATGATTTGGAGCCAAGTGATCAGGCTTCACTTCCAGCCCTGCCATGCCGTGTGTGACTTTGGCATATCATTTCCCCTCTCTGGGCTTCAGTTTCCCAACTGCAAAGAGGAAAATAACACCTGCCGAACCTCACAAGGCTTACAGTTCTTAAAAGGGTTCTGTAAACCATGGAGGGTTTTGAAGAAGTGGGTCATGGATAAGATTCCCACCTACTGGGCTCCAACCTGTGATGAAGCTAAGAGGGACTGGATGTGGGCCCGATCCTTGAAGTAGGAGCGGCTGAGGCTGTTCCATATGACATCGGAGACCTTCTTCACCAGCTCACGGCTGGAGACACCCCCTTCTCGAGGATAGAGGGACAGGTCGACGGCGCCTCGGATCTGGGCGGTGAAGCGGGCATAGAGGGCGGCGATGATAGACAGGTCGGCCACGGGAAAGTAGGTGAGGCCGCCAGGCGGGTCGGGGGCGGGGCTGGGCTGGAAGGTGAGCTCGGGAACGTTGGTAGGGATGACGCGGTTGACAGCCAGAAAATGCTCCACGAAGCCCAGCACCAAGGAAAGGAGCACCAGGTCCGGCTCCTCTCGGCCCAGCTCGGCAGCAAACAGGCGCACCACGTCGTCGATGGAGCGCAGCGGGAACAGCGTCTTCTGGGCGGCCTTCAGCCCCATGGCGGCGGGCGGTGGGCGGCGGCCTGCAAGGCAAGCCGGGGGAGGGAGGGTCGGGCAGGTTCGGCCGGGGAGCCTCCTCCCAGGGTCCGCTAAGGTTCCACCCGCCCCGACACACGCACAGCTCCCCTGCTTCCCCACCCTCTTCAGCCTCTGCTCACCGGCTTCCCCTCTTTTGTCGGTGAGACCCCTCAGCCGAGACTGCAGAGCCTTTTTGTCCCCCACAATTCCGGGACGCCCGGTACCCGATGGGGTGCGCCCCAAGCACCCCAATGAGGAGCCCCAATGGCCGCCCCGCCCCCTCTCTACGACTGTGCCCCCGGGGCTGTAAAGTCTGTCCAGAAAGCGCACCCAGGTCAAGCCCCCAAACCCCAAGGAGAGTCCTGGCCTCGGTCCCCCTCGCCCACCTCCGCGCTTACATCCCACACTAGGCACCGCGGCGCACGCCGCCCGGAGCCTGCTGGGACATGAAGTCCCGCCCCTAGGGTCGCACTACCCGCCGGGAAGTGGAGTCTGGGCCCACCCCTGCCCCGCTGAGCCTGGAAATAGTGGCGGGCCGGGCCGCTGCGCTGTGGCTTCTGGGATCTCTAGGTCCGCGGCTCCGGACACCTCCTTCCCGAGATACTCAGGGATTGGCCCTTCCCTTCAGGCCGACCAGGCAGGAAGCGTGCCCGCAGTGCCTTCTGGAAAATGTAGTCCGGGGGCACTACCTGCAGACTCGGGGTGGGAGGTCGCCGAGCTTCTGCCGGTTTTGCTGTCACGGGTCGGTCGGCAAGTTATGAGGAAAAAGATCAGGTTGCTTGATCCAGAAAAAATTAAAATAAAACAATATGAGAAAAACAGATACTTTTAAACACTGCCAGAGAGTAAATGTGTTCAGCCGCTTTAGCTGGGTATCAGTGTCTGTTAACATATAAAGATGCCTACTCTGTGTGCAGCACTCGTTTCCCACTTCCGCCCGCGAGATACTCTAACACGTGCTAAGAGTAGCTTTTGTTTGTTTGTTTTGAGACACGGTCTTTCTCTTTCGCCCAGGCTGGAATGCAGTGGCTCGATCTGGGCTCACTGCAGCCTCGACTTCACGGGCTCAAGCGATTCTCGTGCCTCAGCCTCCCGAGTAGCTGTGATCACAGGCGTGCGCCACCACTCCCGCCTAATTTTGTGTGTATGTGCATATACATAAATATATATACATATAACACACACACACACACACACACACACACATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGCAGAGACAGGGATTCCCAGCTACTTGGGAGGCTGAGGCGCGGGGAATCCCTTGAACCTGGGAGGCGGAGGCTTCAGTGAGCCAGAATCTTGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGATTCCGTCTTAAAAAAAAGTCCCAAGTAGCTGGGATTATAGGCGTCCGCCACCACACCCAGAAAACTTTTTGTATTTTAAGTAGAGATGGGGTTTCACCATGTTGGCCAGACTGGTCTCGAACCCCTAACCTCAAGTGATCTGCCCGCCTCAGCCTCCCAAAGTGCTAAAATTACAGGCGTGAACCACCTTACCCGGCCAAAGAGTAGTTATN | pathogenic | 178,004 |
The genetic variant at chromosome 11, position 64809693, affecting gene MEN1 (menin 1): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Multiple_endocrine_neoplasia,_type_1'] | ACAGCGCATGTATGATCCTTTCAGGTACAGCCAGCTCTTAGGGGGGGATGAGATCATTATGTCTCATGATGGCCCACCCTGTGCCTGCTTCAGGGAATGACAGCCAGGAAAAGGGGCTCTTCTGTCTTCCCTTCCTATGTGGGTGGTGATGGGAAGAAAGGGGTGTGGCCCAAGAAAATGGAGTCCCTTGGGTGGCTTGGGCTACTACAGTATGAAGGGGACAAGGCTGGGGGGAGGGAACAATACCCGCTCAGCCACACCGGCATTGACTGTCTGGCCCCTGCGGTCCTCGTTGCCCTTGCCGTGCCAGGTGACCTCAGCTGTCTGCTCCCCATTGGGCCCAAACACTACCCAGGCATGATCCTCAGACAGGGCGAGGTGGACATCCCGGAGACCCAGGGCCTGGCAGGCCCCAACCACAGCAAAGGCCACACCGGAGCTGTCCAATTTGGTGCCTGTGGAAGGGGGAGGTAATGAAAGAGGGTCCTCTGTGCTTTAACATGGGGAAAGGGGGCCAGGTAGTGATGGGCCACACTCCCTCCCACTCCCTTTCCAAGCCTGTGACCCAACCTCAGATTCTCCTGCCCACTATCCCTCCATCCCTTCCCTCCCACGTGTTCAAAGACTCTCTCCCTGTTTACACCCTCTATGTCCAACAAGATACCTTTCTGGATATCCTGTAGCTGACCCAGCCTTTGGCCCTACCTCGTCTTTCTCTGCAACTCTATTATATATTCTATGGATTTAGGGATTCCATTTTACTGCACTTACTAGGTTAAAACAGGAATGGCAAAAACAGGACGCTGGCCAACACTCTCTGGCTATACACCCACCAACAAATAACCCTCATTTATCTCTGCACTCTTTTCCTGCTAAGCTGAGAAGCAGCCTCTGATTCCTTCTCAATATGGCACACCAGGATGGGATTGCCAGTCAACCGGGCTTGGTGCAAAGCTCTTTGCAAGCCCTGACTCTTAAGCCTTTTGAGGTCAAGCCCCTTCTCTGTCTCAAACATTTTTGACCAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCTCGTCTCTACTAAAAATCCAAAAAAAAATTAGCCAGGCATGGTGGCAGGCTCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGGCAGGAGAATGGCATGAAAGCAGGAGGCAGAGCTTGCAGTGAGCCGAGATTGCACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACGCCGTCTGAAAAAAAAAAAAAAATTTTCATAGGCCACCAGTTGCGGTGGCTCACACCTGTAATCCCAGCATTTGGGAGACTGAGGCGGGCAGATCACTTGAGCCCAAGAGTTCAAGACCAGTCTGGGCCACATAGTGAGACACCATCTCTACAAAAAAAATACAAAAAATTAACCAGCACCACGGTGCATGCCTGTACTCTCAGCTACTCAGGAGGCTGAGGTTGGAGGATCTCTGAGCCCAGGGAGACTGAGGCTGCAGTGAGCCATGATCACACCACTGCACTCCAGCCTGGGGGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAATCTTCATAGCCATTATTTTGTTTAACTGCCTCAAATGCAGCCCAATTTCATCTTCTTGCCCCCTAAATCTGCTGCCGCCCTCTGTGTCTCATGCTTAGAACTCCTGTAGCTGTTCAGTGGCAAGGGTGGGGGTGCTGAGGGGGCAGAGGTGAGGTTGATGATTTGGAGCCAAGTGATCAGGCTTCACTTCCAGCCCTGCCATGCCGTGTGTGACTTTGGCATATCATTTCCCCTCTCTGGGCTTCAGTTTCCCAACTGCAAAGAGGAAAATAACACCTGCCGAACCTCACAAGGCTTACAGTTCTTAAAAGGGTTCTGTAAACCATGGAGGGTTTTGAAGAAGTGGGTCATGGATAAGATTCCCACCTACTGGGCTCCAACCTGTGATGAAGCTGAAGAGGGACTGGATGTGGGCCCGATCCTTGAAGTAGGAGCGGCTGAGGCTGTTCCATATGACATCGGAGACCTTCTTCACCAGCTCACGGCTGGAGACACCCCCTTCTCGAGGATAGAGGGACAGGTCGACGGCGCCTCGGATCTGGGCGGTGAAGCGGGCATAGAGGGCGGCGATGATAGACAGGTCGGCCACGGGAAAGTAGGTGAGGCCGCCAGGCGGGTCGGGGGCGGGGCTGGGCTGGAAGGTGAGCTCGGGAACGTTGGTAGGGATGACGCGGTTGACAGCCAGAAAATGCTCCACGAAGCCCAGCACCAAGGAAAGGAGCACCAGGTCCGGCTCCTCTCGGCCCAGCTCGGCAGCAAACAGGCGCACCACGTCGTCGATGGAGCGCAGCGGGAACAGCGTCTTCTGGGCGGCCTTCAGCCCCATGGCGGCGGGCGGTGGGCGGCGGCCTGCAAGGCAAGCCGGGGGAGGGAGGGTCGGGCAGGTTCGGCCGGGGAGCCTCCTCCCAGGGTCCGCTAAGGTTCCACCCGCCCCGACACACGCACAGCTCCCCTGCTTCCCCACCCTCTTCAGCCTCTGCTCACCGGCTTCCCCTCTTTTGTCGGTGAGACCCCTCAGCCGAGACTGCAGAGCCTTTTTGTCCCCCACAATTCCGGGACGCCCGGTACCCGATGGGGTGCGCCCCAAGCACCCCAATGAGGAGCCCCAATGGCCGCCCCGCCCCCTCTCTACGACTGTGCCCCCGGGGCTGTAAAGTCTGTCCAGAAAGCGCACCCAGGTCAAGCCCCCAAACCCCAAGGAGAGTCCTGGCCTCGGTCCCCCTCGCCCACCTCCGCGCTTACATCCCACACTAGGCACCGCGGCGCACGCCGCCCGGAGCCTGCTGGGACATGAAGTCCCGCCCCTAGGGTCGCACTACCCGCCGGGAAGTGGAGTCTGGGCCCACCCCTGCCCCGCTGAGCCTGGAAATAGTGGCGGGCCGGGCCGCTGCGCTGTGGCTTCTGGGATCTCTAGGTCCGCGGCTCCGGACACCTCCTTCCCGAGATACTCAGGGATTGGCCCTTCCCTTCAGGCCGACCAGGCAGGAAGCGTGCCCGCAGTGCCTTCTGGAAAATGTAGTCCGGGGGCACTACCTGCAGACTCGGGGTGGGAGGTCGCCGAGCTTCTGCCGGTTTTGCTGTCACGGGTCGGTCGGCAAGTTATGAGGAAAAAGATCAGGTTGCTTGATCCAGAAAAAATTAAAATAAAACAATATGAGAAAAACAGATACTTTTAAACACTGCCAGAGAGTAAATGTGTTCAGCCGCTTTAGCTGGGTATCAGTGTCTGTTAACATATAAAGATGCCTACTCTGTGTGCAGCACTCGTTTCCCACTTCCGCCCGCGAGATACTCTAACACGTGCTAAGAGTAGCTTTTGTTTGTTTGTTTTGAGACACGGTCTTTCTCTTTCGCCCAGGCTGGAATGCAGTGGCTCGATCTGGGCTCACTGCAGCCTCGACTTCACGGGCTCAAGCGATTCTCGTGCCTCAGCCTCCCGAGTAGCTGTGATCACAGGCGTGCGCCACCACTCCCGCCTAATTTTGTGTGTATGTGCATATACATAAATATATATACATATAACACACACACACACACACACACACACACATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGCAGAGACAGGGATTCCCAGCTACTTGGGAGGCTGAGGCGCGGGGAATCCCTTGAACCTGGGAGGCGGAGGCTTCAGTGAGCCAGAATCTTGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGATTCCGTCTTAAAAAAAAGTCCCAAGTAGCTGGGATTATAGGCGTCCGCCACCACACCCAGAAAACTTTTTGTATTTTAAGTAGAGATGGGGTTTCACCATGTTGGCCAGACTGGTCTCGAACCCCTAACCTCAAGTGATCTGCCCGCCTCAGCCTCCCAAAGTGCTAAAATTACAGGCGTGAACCACCTTACCCGGCCAAAGAGTAGTTATTTGTTTATTTGTTTTG | ACAGCGCATGTATGATCCTTTCAGGTACAGCCAGCTCTTAGGGGGGGATGAGATCATTATGTCTCATGATGGCCCACCCTGTGCCTGCTTCAGGGAATGACAGCCAGGAAAAGGGGCTCTTCTGTCTTCCCTTCCTATGTGGGTGGTGATGGGAAGAAAGGGGTGTGGCCCAAGAAAATGGAGTCCCTTGGGTGGCTTGGGCTACTACAGTATGAAGGGGACAAGGCTGGGGGGAGGGAACAATACCCGCTCAGCCACACCGGCATTGACTGTCTGGCCCCTGCGGTCCTCGTTGCCCTTGCCGTGCCAGGTGACCTCAGCTGTCTGCTCCCCATTGGGCCCAAACACTACCCAGGCATGATCCTCAGACAGGGCGAGGTGGACATCCCGGAGACCCAGGGCCTGGCAGGCCCCAACCACAGCAAAGGCCACACCGGAGCTGTCCAATTTGGTGCCTGTGGAAGGGGGAGGTAATGAAAGAGGGTCCTCTGTGCTTTAACATGGGGAAAGGGGGCCAGGTAGTGATGGGCCACACTCCCTCCCACTCCCTTTCCAAGCCTGTGACCCAACCTCAGATTCTCCTGCCCACTATCCCTCCATCCCTTCCCTCCCACGTGTTCAAAGACTCTCTCCCTGTTTACACCCTCTATGTCCAACAAGATACCTTTCTGGATATCCTGTAGCTGACCCAGCCTTTGGCCCTACCTCGTCTTTCTCTGCAACTCTATTATATATTCTATGGATTTAGGGATTCCATTTTACTGCACTTACTAGGTTAAAACAGGAATGGCAAAAACAGGACGCTGGCCAACACTCTCTGGCTATACACCCACCAACAAATAACCCTCATTTATCTCTGCACTCTTTTCCTGCTAAGCTGAGAAGCAGCCTCTGATTCCTTCTCAATATGGCACACCAGGATGGGATTGCCAGTCAACCGGGCTTGGTGCAAAGCTCTTTGCAAGCCCTGACTCTTAAGCCTTTTGAGGTCAAGCCCCTTCTCTGTCTCAAACATTTTTGACCAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCTCGTCTCTACTAAAAATCCAAAAAAAAATTAGCCAGGCATGGTGGCAGGCTCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGGCAGGAGAATGGCATGAAAGCAGGAGGCAGAGCTTGCAGTGAGCCGAGATTGCACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACGCCGTCTGAAAAAAAAAAAAAAATTTTCATAGGCCACCAGTTGCGGTGGCTCACACCTGTAATCCCAGCATTTGGGAGACTGAGGCGGGCAGATCACTTGAGCCCAAGAGTTCAAGACCAGTCTGGGCCACATAGTGAGACACCATCTCTACAAAAAAAATACAAAAAATTAACCAGCACCACGGTGCATGCCTGTACTCTCAGCTACTCAGGAGGCTGAGGTTGGAGGATCTCTGAGCCCAGGGAGACTGAGGCTGCAGTGAGCCATGATCACACCACTGCACTCCAGCCTGGGGGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAATCTTCATAGCCATTATTTTGTTTAACTGCCTCAAATGCAGCCCAATTTCATCTTCTTGCCCCCTAAATCTGCTGCCGCCCTCTGTGTCTCATGCTTAGAACTCCTGTAGCTGTTCAGTGGCAAGGGTGGGGGTGCTGAGGGGGCAGAGGTGAGGTTGATGATTTGGAGCCAAGTGATCAGGCTTCACTTCCAGCCCTGCCATGCCGTGTGTGACTTTGGCATATCATTTCCCCTCTCTGGGCTTCAGTTTCCCAACTGCAAAGAGGAAAATAACACCTGCCGAACCTCACAAGGCTTACAGTTCTTAAAAGGGTTCTGTAAACCATGGAGGGTTTTGAAGAAGTGGGTCATGGATAAGATTCCCACCTACTGGGCTCCAACCTGTGATGAAGCTGAAGAGGGACTGGATGGGGCCCGATCCTTGAAGTAGGAGCGGCTGAGGCTGTTCCATATGACATCGGAGACCTTCTTCACCAGCTCACGGCTGGAGACACCCCCTTCTCGAGGATAGAGGGACAGGTCGACGGCGCCTCGGATCTGGGCGGTGAAGCGGGCATAGAGGGCGGCGATGATAGACAGGTCGGCCACGGGAAAGTAGGTGAGGCCGCCAGGCGGGTCGGGGGCGGGGCTGGGCTGGAAGGTGAGCTCGGGAACGTTGGTAGGGATGACGCGGTTGACAGCCAGAAAATGCTCCACGAAGCCCAGCACCAAGGAAAGGAGCACCAGGTCCGGCTCCTCTCGGCCCAGCTCGGCAGCAAACAGGCGCACCACGTCGTCGATGGAGCGCAGCGGGAACAGCGTCTTCTGGGCGGCCTTCAGCCCCATGGCGGCGGGCGGTGGGCGGCGGCCTGCAAGGCAAGCCGGGGGAGGGAGGGTCGGGCAGGTTCGGCCGGGGAGCCTCCTCCCAGGGTCCGCTAAGGTTCCACCCGCCCCGACACACGCACAGCTCCCCTGCTTCCCCACCCTCTTCAGCCTCTGCTCACCGGCTTCCCCTCTTTTGTCGGTGAGACCCCTCAGCCGAGACTGCAGAGCCTTTTTGTCCCCCACAATTCCGGGACGCCCGGTACCCGATGGGGTGCGCCCCAAGCACCCCAATGAGGAGCCCCAATGGCCGCCCCGCCCCCTCTCTACGACTGTGCCCCCGGGGCTGTAAAGTCTGTCCAGAAAGCGCACCCAGGTCAAGCCCCCAAACCCCAAGGAGAGTCCTGGCCTCGGTCCCCCTCGCCCACCTCCGCGCTTACATCCCACACTAGGCACCGCGGCGCACGCCGCCCGGAGCCTGCTGGGACATGAAGTCCCGCCCCTAGGGTCGCACTACCCGCCGGGAAGTGGAGTCTGGGCCCACCCCTGCCCCGCTGAGCCTGGAAATAGTGGCGGGCCGGGCCGCTGCGCTGTGGCTTCTGGGATCTCTAGGTCCGCGGCTCCGGACACCTCCTTCCCGAGATACTCAGGGATTGGCCCTTCCCTTCAGGCCGACCAGGCAGGAAGCGTGCCCGCAGTGCCTTCTGGAAAATGTAGTCCGGGGGCACTACCTGCAGACTCGGGGTGGGAGGTCGCCGAGCTTCTGCCGGTTTTGCTGTCACGGGTCGGTCGGCAAGTTATGAGGAAAAAGATCAGGTTGCTTGATCCAGAAAAAATTAAAATAAAACAATATGAGAAAAACAGATACTTTTAAACACTGCCAGAGAGTAAATGTGTTCAGCCGCTTTAGCTGGGTATCAGTGTCTGTTAACATATAAAGATGCCTACTCTGTGTGCAGCACTCGTTTCCCACTTCCGCCCGCGAGATACTCTAACACGTGCTAAGAGTAGCTTTTGTTTGTTTGTTTTGAGACACGGTCTTTCTCTTTCGCCCAGGCTGGAATGCAGTGGCTCGATCTGGGCTCACTGCAGCCTCGACTTCACGGGCTCAAGCGATTCTCGTGCCTCAGCCTCCCGAGTAGCTGTGATCACAGGCGTGCGCCACCACTCCCGCCTAATTTTGTGTGTATGTGCATATACATAAATATATATACATATAACACACACACACACACACACACACACACATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGCAGAGACAGGGATTCCCAGCTACTTGGGAGGCTGAGGCGCGGGGAATCCCTTGAACCTGGGAGGCGGAGGCTTCAGTGAGCCAGAATCTTGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGATTCCGTCTTAAAAAAAAGTCCCAAGTAGCTGGGATTATAGGCGTCCGCCACCACACCCAGAAAACTTTTTGTATTTTAAGTAGAGATGGGGTTTCACCATGTTGGCCAGACTGGTCTCGAACCCCTAACCTCAAGTGATCTGCCCGCCTCAGCCTCCCAAAGTGCTAAAATTACAGGCGTGAACCACCTTACCCGGCCAAAGAGTAGTTATTTGTTTATTTGTTTTGN | pathogenic | 178,011 |
Clinical significance of chromosome 11, position 64809702, gene MEN1 (menin 1): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Multiple_endocrine_neoplasia,_type_1'] | GTATGATCCTTTCAGGTACAGCCAGCTCTTAGGGGGGGATGAGATCATTATGTCTCATGATGGCCCACCCTGTGCCTGCTTCAGGGAATGACAGCCAGGAAAAGGGGCTCTTCTGTCTTCCCTTCCTATGTGGGTGGTGATGGGAAGAAAGGGGTGTGGCCCAAGAAAATGGAGTCCCTTGGGTGGCTTGGGCTACTACAGTATGAAGGGGACAAGGCTGGGGGGAGGGAACAATACCCGCTCAGCCACACCGGCATTGACTGTCTGGCCCCTGCGGTCCTCGTTGCCCTTGCCGTGCCAGGTGACCTCAGCTGTCTGCTCCCCATTGGGCCCAAACACTACCCAGGCATGATCCTCAGACAGGGCGAGGTGGACATCCCGGAGACCCAGGGCCTGGCAGGCCCCAACCACAGCAAAGGCCACACCGGAGCTGTCCAATTTGGTGCCTGTGGAAGGGGGAGGTAATGAAAGAGGGTCCTCTGTGCTTTAACATGGGGAAAGGGGGCCAGGTAGTGATGGGCCACACTCCCTCCCACTCCCTTTCCAAGCCTGTGACCCAACCTCAGATTCTCCTGCCCACTATCCCTCCATCCCTTCCCTCCCACGTGTTCAAAGACTCTCTCCCTGTTTACACCCTCTATGTCCAACAAGATACCTTTCTGGATATCCTGTAGCTGACCCAGCCTTTGGCCCTACCTCGTCTTTCTCTGCAACTCTATTATATATTCTATGGATTTAGGGATTCCATTTTACTGCACTTACTAGGTTAAAACAGGAATGGCAAAAACAGGACGCTGGCCAACACTCTCTGGCTATACACCCACCAACAAATAACCCTCATTTATCTCTGCACTCTTTTCCTGCTAAGCTGAGAAGCAGCCTCTGATTCCTTCTCAATATGGCACACCAGGATGGGATTGCCAGTCAACCGGGCTTGGTGCAAAGCTCTTTGCAAGCCCTGACTCTTAAGCCTTTTGAGGTCAAGCCCCTTCTCTGTCTCAAACATTTTTGACCAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCTCGTCTCTACTAAAAATCCAAAAAAAAATTAGCCAGGCATGGTGGCAGGCTCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGGCAGGAGAATGGCATGAAAGCAGGAGGCAGAGCTTGCAGTGAGCCGAGATTGCACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACGCCGTCTGAAAAAAAAAAAAAAATTTTCATAGGCCACCAGTTGCGGTGGCTCACACCTGTAATCCCAGCATTTGGGAGACTGAGGCGGGCAGATCACTTGAGCCCAAGAGTTCAAGACCAGTCTGGGCCACATAGTGAGACACCATCTCTACAAAAAAAATACAAAAAATTAACCAGCACCACGGTGCATGCCTGTACTCTCAGCTACTCAGGAGGCTGAGGTTGGAGGATCTCTGAGCCCAGGGAGACTGAGGCTGCAGTGAGCCATGATCACACCACTGCACTCCAGCCTGGGGGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAATCTTCATAGCCATTATTTTGTTTAACTGCCTCAAATGCAGCCCAATTTCATCTTCTTGCCCCCTAAATCTGCTGCCGCCCTCTGTGTCTCATGCTTAGAACTCCTGTAGCTGTTCAGTGGCAAGGGTGGGGGTGCTGAGGGGGCAGAGGTGAGGTTGATGATTTGGAGCCAAGTGATCAGGCTTCACTTCCAGCCCTGCCATGCCGTGTGTGACTTTGGCATATCATTTCCCCTCTCTGGGCTTCAGTTTCCCAACTGCAAAGAGGAAAATAACACCTGCCGAACCTCACAAGGCTTACAGTTCTTAAAAGGGTTCTGTAAACCATGGAGGGTTTTGAAGAAGTGGGTCATGGATAAGATTCCCACCTACTGGGCTCCAACCTGTGATGAAGCTGAAGAGGGACTGGATGTGGGCCCGATCCTTGAAGTAGGAGCGGCTGAGGCTGTTCCATATGACATCGGAGACCTTCTTCACCAGCTCACGGCTGGAGACACCCCCTTCTCGAGGATAGAGGGACAGGTCGACGGCGCCTCGGATCTGGGCGGTGAAGCGGGCATAGAGGGCGGCGATGATAGACAGGTCGGCCACGGGAAAGTAGGTGAGGCCGCCAGGCGGGTCGGGGGCGGGGCTGGGCTGGAAGGTGAGCTCGGGAACGTTGGTAGGGATGACGCGGTTGACAGCCAGAAAATGCTCCACGAAGCCCAGCACCAAGGAAAGGAGCACCAGGTCCGGCTCCTCTCGGCCCAGCTCGGCAGCAAACAGGCGCACCACGTCGTCGATGGAGCGCAGCGGGAACAGCGTCTTCTGGGCGGCCTTCAGCCCCATGGCGGCGGGCGGTGGGCGGCGGCCTGCAAGGCAAGCCGGGGGAGGGAGGGTCGGGCAGGTTCGGCCGGGGAGCCTCCTCCCAGGGTCCGCTAAGGTTCCACCCGCCCCGACACACGCACAGCTCCCCTGCTTCCCCACCCTCTTCAGCCTCTGCTCACCGGCTTCCCCTCTTTTGTCGGTGAGACCCCTCAGCCGAGACTGCAGAGCCTTTTTGTCCCCCACAATTCCGGGACGCCCGGTACCCGATGGGGTGCGCCCCAAGCACCCCAATGAGGAGCCCCAATGGCCGCCCCGCCCCCTCTCTACGACTGTGCCCCCGGGGCTGTAAAGTCTGTCCAGAAAGCGCACCCAGGTCAAGCCCCCAAACCCCAAGGAGAGTCCTGGCCTCGGTCCCCCTCGCCCACCTCCGCGCTTACATCCCACACTAGGCACCGCGGCGCACGCCGCCCGGAGCCTGCTGGGACATGAAGTCCCGCCCCTAGGGTCGCACTACCCGCCGGGAAGTGGAGTCTGGGCCCACCCCTGCCCCGCTGAGCCTGGAAATAGTGGCGGGCCGGGCCGCTGCGCTGTGGCTTCTGGGATCTCTAGGTCCGCGGCTCCGGACACCTCCTTCCCGAGATACTCAGGGATTGGCCCTTCCCTTCAGGCCGACCAGGCAGGAAGCGTGCCCGCAGTGCCTTCTGGAAAATGTAGTCCGGGGGCACTACCTGCAGACTCGGGGTGGGAGGTCGCCGAGCTTCTGCCGGTTTTGCTGTCACGGGTCGGTCGGCAAGTTATGAGGAAAAAGATCAGGTTGCTTGATCCAGAAAAAATTAAAATAAAACAATATGAGAAAAACAGATACTTTTAAACACTGCCAGAGAGTAAATGTGTTCAGCCGCTTTAGCTGGGTATCAGTGTCTGTTAACATATAAAGATGCCTACTCTGTGTGCAGCACTCGTTTCCCACTTCCGCCCGCGAGATACTCTAACACGTGCTAAGAGTAGCTTTTGTTTGTTTGTTTTGAGACACGGTCTTTCTCTTTCGCCCAGGCTGGAATGCAGTGGCTCGATCTGGGCTCACTGCAGCCTCGACTTCACGGGCTCAAGCGATTCTCGTGCCTCAGCCTCCCGAGTAGCTGTGATCACAGGCGTGCGCCACCACTCCCGCCTAATTTTGTGTGTATGTGCATATACATAAATATATATACATATAACACACACACACACACACACACACACACATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGCAGAGACAGGGATTCCCAGCTACTTGGGAGGCTGAGGCGCGGGGAATCCCTTGAACCTGGGAGGCGGAGGCTTCAGTGAGCCAGAATCTTGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGATTCCGTCTTAAAAAAAAGTCCCAAGTAGCTGGGATTATAGGCGTCCGCCACCACACCCAGAAAACTTTTTGTATTTTAAGTAGAGATGGGGTTTCACCATGTTGGCCAGACTGGTCTCGAACCCCTAACCTCAAGTGATCTGCCCGCCTCAGCCTCCCAAAGTGCTAAAATTACAGGCGTGAACCACCTTACCCGGCCAAAGAGTAGTTATTTGTTTATTTGTTTTGAGACAGAGT | GTATGATCCTTTCAGGTACAGCCAGCTCTTAGGGGGGGATGAGATCATTATGTCTCATGATGGCCCACCCTGTGCCTGCTTCAGGGAATGACAGCCAGGAAAAGGGGCTCTTCTGTCTTCCCTTCCTATGTGGGTGGTGATGGGAAGAAAGGGGTGTGGCCCAAGAAAATGGAGTCCCTTGGGTGGCTTGGGCTACTACAGTATGAAGGGGACAAGGCTGGGGGGAGGGAACAATACCCGCTCAGCCACACCGGCATTGACTGTCTGGCCCCTGCGGTCCTCGTTGCCCTTGCCGTGCCAGGTGACCTCAGCTGTCTGCTCCCCATTGGGCCCAAACACTACCCAGGCATGATCCTCAGACAGGGCGAGGTGGACATCCCGGAGACCCAGGGCCTGGCAGGCCCCAACCACAGCAAAGGCCACACCGGAGCTGTCCAATTTGGTGCCTGTGGAAGGGGGAGGTAATGAAAGAGGGTCCTCTGTGCTTTAACATGGGGAAAGGGGGCCAGGTAGTGATGGGCCACACTCCCTCCCACTCCCTTTCCAAGCCTGTGACCCAACCTCAGATTCTCCTGCCCACTATCCCTCCATCCCTTCCCTCCCACGTGTTCAAAGACTCTCTCCCTGTTTACACCCTCTATGTCCAACAAGATACCTTTCTGGATATCCTGTAGCTGACCCAGCCTTTGGCCCTACCTCGTCTTTCTCTGCAACTCTATTATATATTCTATGGATTTAGGGATTCCATTTTACTGCACTTACTAGGTTAAAACAGGAATGGCAAAAACAGGACGCTGGCCAACACTCTCTGGCTATACACCCACCAACAAATAACCCTCATTTATCTCTGCACTCTTTTCCTGCTAAGCTGAGAAGCAGCCTCTGATTCCTTCTCAATATGGCACACCAGGATGGGATTGCCAGTCAACCGGGCTTGGTGCAAAGCTCTTTGCAAGCCCTGACTCTTAAGCCTTTTGAGGTCAAGCCCCTTCTCTGTCTCAAACATTTTTGACCAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCTCGTCTCTACTAAAAATCCAAAAAAAAATTAGCCAGGCATGGTGGCAGGCTCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGGCAGGAGAATGGCATGAAAGCAGGAGGCAGAGCTTGCAGTGAGCCGAGATTGCACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACGCCGTCTGAAAAAAAAAAAAAAATTTTCATAGGCCACCAGTTGCGGTGGCTCACACCTGTAATCCCAGCATTTGGGAGACTGAGGCGGGCAGATCACTTGAGCCCAAGAGTTCAAGACCAGTCTGGGCCACATAGTGAGACACCATCTCTACAAAAAAAATACAAAAAATTAACCAGCACCACGGTGCATGCCTGTACTCTCAGCTACTCAGGAGGCTGAGGTTGGAGGATCTCTGAGCCCAGGGAGACTGAGGCTGCAGTGAGCCATGATCACACCACTGCACTCCAGCCTGGGGGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAATCTTCATAGCCATTATTTTGTTTAACTGCCTCAAATGCAGCCCAATTTCATCTTCTTGCCCCCTAAATCTGCTGCCGCCCTCTGTGTCTCATGCTTAGAACTCCTGTAGCTGTTCAGTGGCAAGGGTGGGGGTGCTGAGGGGGCAGAGGTGAGGTTGATGATTTGGAGCCAAGTGATCAGGCTTCACTTCCAGCCCTGCCATGCCGTGTGTGACTTTGGCATATCATTTCCCCTCTCTGGGCTTCAGTTTCCCAACTGCAAAGAGGAAAATAACACCTGCCGAACCTCACAAGGCTTACAGTTCTTAAAAGGGTTCTGTAAACCATGGAGGGTTTTGAAGAAGTGGGTCATGGATAAGATTCCCACCTACTGGGCTCCAACCTGTGATGAAGCTGAAGAGGGACTGGATGTGGGCCCGATCCTTGAAGTAGGAGCTCCTTGAAGTAGGAGCGGCTGAGGCTGTTCCATATGACATCGGAGACCTTCTTCACCAGCTCACGGCTGGAGACACCCCCTTCTCGAGGATAGAGGGACAGGTCGACGGCGCCTCGGATCTGGGCGGTGAAGCGGGCATAGAGGGCGGCGATGATAGACAGGTCGGCCACGGGAAAGTAGGTGAGGCCGCCAGGCGGGTCGGGGGCGGGGCTGGGCTGGAAGGTGAGCTCGGGAACGTTGGTAGGGATGACGCGGTTGACAGCCAGAAAATGCTCCACGAAGCCCAGCACCAAGGAAAGGAGCACCAGGTCCGGCTCCTCTCGGCCCAGCTCGGCAGCAAACAGGCGCACCACGTCGTCGATGGAGCGCAGCGGGAACAGCGTCTTCTGGGCGGCCTTCAGCCCCATGGCGGCGGGCGGTGGGCGGCGGCCTGCAAGGCAAGCCGGGGGAGGGAGGGTCGGGCAGGTTCGGCCGGGGAGCCTCCTCCCAGGGTCCGCTAAGGTTCCACCCGCCCCGACACACGCACAGCTCCCCTGCTTCCCCACCCTCTTCAGCCTCTGCTCACCGGCTTCCCCTCTTTTGTCGGTGAGACCCCTCAGCCGAGACTGCAGAGCCTTTTTGTCCCCCACAATTCCGGGACGCCCGGTACCCGATGGGGTGCGCCCCAAGCACCCCAATGAGGAGCCCCAATGGCCGCCCCGCCCCCTCTCTACGACTGTGCCCCCGGGGCTGTAAAGTCTGTCCAGAAAGCGCACCCAGGTCAAGCCCCCAAACCCCAAGGAGAGTCCTGGCCTCGGTCCCCCTCGCCCACCTCCGCGCTTACATCCCACACTAGGCACCGCGGCGCACGCCGCCCGGAGCCTGCTGGGACATGAAGTCCCGCCCCTAGGGTCGCACTACCCGCCGGGAAGTGGAGTCTGGGCCCACCCCTGCCCCGCTGAGCCTGGAAATAGTGGCGGGCCGGGCCGCTGCGCTGTGGCTTCTGGGATCTCTAGGTCCGCGGCTCCGGACACCTCCTTCCCGAGATACTCAGGGATTGGCCCTTCCCTTCAGGCCGACCAGGCAGGAAGCGTGCCCGCAGTGCCTTCTGGAAAATGTAGTCCGGGGGCACTACCTGCAGACTCGGGGTGGGAGGTCGCCGAGCTTCTGCCGGTTTTGCTGTCACGGGTCGGTCGGCAAGTTATGAGGAAAAAGATCAGGTTGCTTGATCCAGAAAAAATTAAAATAAAACAATATGAGAAAAACAGATACTTTTAAACACTGCCAGAGAGTAAATGTGTTCAGCCGCTTTAGCTGGGTATCAGTGTCTGTTAACATATAAAGATGCCTACTCTGTGTGCAGCACTCGTTTCCCACTTCCGCCCGCGAGATACTCTAACACGTGCTAAGAGTAGCTTTTGTTTGTTTGTTTTGAGACACGGTCTTTCTCTTTCGCCCAGGCTGGAATGCAGTGGCTCGATCTGGGCTCACTGCAGCCTCGACTTCACGGGCTCAAGCGATTCTCGTGCCTCAGCCTCCCGAGTAGCTGTGATCACAGGCGTGCGCCACCACTCCCGCCTAATTTTGTGTGTATGTGCATATACATAAATATATATACATATAACACACACACACACACACACACACACACATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGCAGAGACAGGGATTCCCAGCTACTTGGGAGGCTGAGGCGCGGGGAATCCCTTGAACCTGGGAGGCGGAGGCTTCAGTGAGCCAGAATCTTGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGATTCCGTCTTAAAAAAAAGTCCCAAGTAGCTGGGATTATAGGCGTCCGCCACCACACCCAGAAAACTTTTTGTATTTTAAGTAGAGATGGGGTTTCACCATGTTGGCCAGACTGGTCTCGAACCCCTAACCTCAAGTGATCTGCCCGCCTCAGCCTCCCAAAGTGCTAAAATTACAGGCGTGAACCACCTTACCCGGCCAAAGAGTAGTTATTTGTTTATT | pathogenic | 178,016 |
Determine if the mutation at chromosome 11, position 64809707 in gene MEN1 (menin 1) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Multiple_endocrine_neoplasia,_type_1'] | ATCCTTTCAGGTACAGCCAGCTCTTAGGGGGGGATGAGATCATTATGTCTCATGATGGCCCACCCTGTGCCTGCTTCAGGGAATGACAGCCAGGAAAAGGGGCTCTTCTGTCTTCCCTTCCTATGTGGGTGGTGATGGGAAGAAAGGGGTGTGGCCCAAGAAAATGGAGTCCCTTGGGTGGCTTGGGCTACTACAGTATGAAGGGGACAAGGCTGGGGGGAGGGAACAATACCCGCTCAGCCACACCGGCATTGACTGTCTGGCCCCTGCGGTCCTCGTTGCCCTTGCCGTGCCAGGTGACCTCAGCTGTCTGCTCCCCATTGGGCCCAAACACTACCCAGGCATGATCCTCAGACAGGGCGAGGTGGACATCCCGGAGACCCAGGGCCTGGCAGGCCCCAACCACAGCAAAGGCCACACCGGAGCTGTCCAATTTGGTGCCTGTGGAAGGGGGAGGTAATGAAAGAGGGTCCTCTGTGCTTTAACATGGGGAAAGGGGGCCAGGTAGTGATGGGCCACACTCCCTCCCACTCCCTTTCCAAGCCTGTGACCCAACCTCAGATTCTCCTGCCCACTATCCCTCCATCCCTTCCCTCCCACGTGTTCAAAGACTCTCTCCCTGTTTACACCCTCTATGTCCAACAAGATACCTTTCTGGATATCCTGTAGCTGACCCAGCCTTTGGCCCTACCTCGTCTTTCTCTGCAACTCTATTATATATTCTATGGATTTAGGGATTCCATTTTACTGCACTTACTAGGTTAAAACAGGAATGGCAAAAACAGGACGCTGGCCAACACTCTCTGGCTATACACCCACCAACAAATAACCCTCATTTATCTCTGCACTCTTTTCCTGCTAAGCTGAGAAGCAGCCTCTGATTCCTTCTCAATATGGCACACCAGGATGGGATTGCCAGTCAACCGGGCTTGGTGCAAAGCTCTTTGCAAGCCCTGACTCTTAAGCCTTTTGAGGTCAAGCCCCTTCTCTGTCTCAAACATTTTTGACCAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCTCGTCTCTACTAAAAATCCAAAAAAAAATTAGCCAGGCATGGTGGCAGGCTCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGGCAGGAGAATGGCATGAAAGCAGGAGGCAGAGCTTGCAGTGAGCCGAGATTGCACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACGCCGTCTGAAAAAAAAAAAAAAATTTTCATAGGCCACCAGTTGCGGTGGCTCACACCTGTAATCCCAGCATTTGGGAGACTGAGGCGGGCAGATCACTTGAGCCCAAGAGTTCAAGACCAGTCTGGGCCACATAGTGAGACACCATCTCTACAAAAAAAATACAAAAAATTAACCAGCACCACGGTGCATGCCTGTACTCTCAGCTACTCAGGAGGCTGAGGTTGGAGGATCTCTGAGCCCAGGGAGACTGAGGCTGCAGTGAGCCATGATCACACCACTGCACTCCAGCCTGGGGGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAATCTTCATAGCCATTATTTTGTTTAACTGCCTCAAATGCAGCCCAATTTCATCTTCTTGCCCCCTAAATCTGCTGCCGCCCTCTGTGTCTCATGCTTAGAACTCCTGTAGCTGTTCAGTGGCAAGGGTGGGGGTGCTGAGGGGGCAGAGGTGAGGTTGATGATTTGGAGCCAAGTGATCAGGCTTCACTTCCAGCCCTGCCATGCCGTGTGTGACTTTGGCATATCATTTCCCCTCTCTGGGCTTCAGTTTCCCAACTGCAAAGAGGAAAATAACACCTGCCGAACCTCACAAGGCTTACAGTTCTTAAAAGGGTTCTGTAAACCATGGAGGGTTTTGAAGAAGTGGGTCATGGATAAGATTCCCACCTACTGGGCTCCAACCTGTGATGAAGCTGAAGAGGGACTGGATGTGGGCCCGATCCTTGAAGTAGGAGCGGCTGAGGCTGTTCCATATGACATCGGAGACCTTCTTCACCAGCTCACGGCTGGAGACACCCCCTTCTCGAGGATAGAGGGACAGGTCGACGGCGCCTCGGATCTGGGCGGTGAAGCGGGCATAGAGGGCGGCGATGATAGACAGGTCGGCCACGGGAAAGTAGGTGAGGCCGCCAGGCGGGTCGGGGGCGGGGCTGGGCTGGAAGGTGAGCTCGGGAACGTTGGTAGGGATGACGCGGTTGACAGCCAGAAAATGCTCCACGAAGCCCAGCACCAAGGAAAGGAGCACCAGGTCCGGCTCCTCTCGGCCCAGCTCGGCAGCAAACAGGCGCACCACGTCGTCGATGGAGCGCAGCGGGAACAGCGTCTTCTGGGCGGCCTTCAGCCCCATGGCGGCGGGCGGTGGGCGGCGGCCTGCAAGGCAAGCCGGGGGAGGGAGGGTCGGGCAGGTTCGGCCGGGGAGCCTCCTCCCAGGGTCCGCTAAGGTTCCACCCGCCCCGACACACGCACAGCTCCCCTGCTTCCCCACCCTCTTCAGCCTCTGCTCACCGGCTTCCCCTCTTTTGTCGGTGAGACCCCTCAGCCGAGACTGCAGAGCCTTTTTGTCCCCCACAATTCCGGGACGCCCGGTACCCGATGGGGTGCGCCCCAAGCACCCCAATGAGGAGCCCCAATGGCCGCCCCGCCCCCTCTCTACGACTGTGCCCCCGGGGCTGTAAAGTCTGTCCAGAAAGCGCACCCAGGTCAAGCCCCCAAACCCCAAGGAGAGTCCTGGCCTCGGTCCCCCTCGCCCACCTCCGCGCTTACATCCCACACTAGGCACCGCGGCGCACGCCGCCCGGAGCCTGCTGGGACATGAAGTCCCGCCCCTAGGGTCGCACTACCCGCCGGGAAGTGGAGTCTGGGCCCACCCCTGCCCCGCTGAGCCTGGAAATAGTGGCGGGCCGGGCCGCTGCGCTGTGGCTTCTGGGATCTCTAGGTCCGCGGCTCCGGACACCTCCTTCCCGAGATACTCAGGGATTGGCCCTTCCCTTCAGGCCGACCAGGCAGGAAGCGTGCCCGCAGTGCCTTCTGGAAAATGTAGTCCGGGGGCACTACCTGCAGACTCGGGGTGGGAGGTCGCCGAGCTTCTGCCGGTTTTGCTGTCACGGGTCGGTCGGCAAGTTATGAGGAAAAAGATCAGGTTGCTTGATCCAGAAAAAATTAAAATAAAACAATATGAGAAAAACAGATACTTTTAAACACTGCCAGAGAGTAAATGTGTTCAGCCGCTTTAGCTGGGTATCAGTGTCTGTTAACATATAAAGATGCCTACTCTGTGTGCAGCACTCGTTTCCCACTTCCGCCCGCGAGATACTCTAACACGTGCTAAGAGTAGCTTTTGTTTGTTTGTTTTGAGACACGGTCTTTCTCTTTCGCCCAGGCTGGAATGCAGTGGCTCGATCTGGGCTCACTGCAGCCTCGACTTCACGGGCTCAAGCGATTCTCGTGCCTCAGCCTCCCGAGTAGCTGTGATCACAGGCGTGCGCCACCACTCCCGCCTAATTTTGTGTGTATGTGCATATACATAAATATATATACATATAACACACACACACACACACACACACACACATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGCAGAGACAGGGATTCCCAGCTACTTGGGAGGCTGAGGCGCGGGGAATCCCTTGAACCTGGGAGGCGGAGGCTTCAGTGAGCCAGAATCTTGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGATTCCGTCTTAAAAAAAAGTCCCAAGTAGCTGGGATTATAGGCGTCCGCCACCACACCCAGAAAACTTTTTGTATTTTAAGTAGAGATGGGGTTTCACCATGTTGGCCAGACTGGTCTCGAACCCCTAACCTCAAGTGATCTGCCCGCCTCAGCCTCCCAAAGTGCTAAAATTACAGGCGTGAACCACCTTACCCGGCCAAAGAGTAGTTATTTGTTTATTTGTTTTGAGACAGAGTCTCGC | ATCCTTTCAGGTACAGCCAGCTCTTAGGGGGGGATGAGATCATTATGTCTCATGATGGCCCACCCTGTGCCTGCTTCAGGGAATGACAGCCAGGAAAAGGGGCTCTTCTGTCTTCCCTTCCTATGTGGGTGGTGATGGGAAGAAAGGGGTGTGGCCCAAGAAAATGGAGTCCCTTGGGTGGCTTGGGCTACTACAGTATGAAGGGGACAAGGCTGGGGGGAGGGAACAATACCCGCTCAGCCACACCGGCATTGACTGTCTGGCCCCTGCGGTCCTCGTTGCCCTTGCCGTGCCAGGTGACCTCAGCTGTCTGCTCCCCATTGGGCCCAAACACTACCCAGGCATGATCCTCAGACAGGGCGAGGTGGACATCCCGGAGACCCAGGGCCTGGCAGGCCCCAACCACAGCAAAGGCCACACCGGAGCTGTCCAATTTGGTGCCTGTGGAAGGGGGAGGTAATGAAAGAGGGTCCTCTGTGCTTTAACATGGGGAAAGGGGGCCAGGTAGTGATGGGCCACACTCCCTCCCACTCCCTTTCCAAGCCTGTGACCCAACCTCAGATTCTCCTGCCCACTATCCCTCCATCCCTTCCCTCCCACGTGTTCAAAGACTCTCTCCCTGTTTACACCCTCTATGTCCAACAAGATACCTTTCTGGATATCCTGTAGCTGACCCAGCCTTTGGCCCTACCTCGTCTTTCTCTGCAACTCTATTATATATTCTATGGATTTAGGGATTCCATTTTACTGCACTTACTAGGTTAAAACAGGAATGGCAAAAACAGGACGCTGGCCAACACTCTCTGGCTATACACCCACCAACAAATAACCCTCATTTATCTCTGCACTCTTTTCCTGCTAAGCTGAGAAGCAGCCTCTGATTCCTTCTCAATATGGCACACCAGGATGGGATTGCCAGTCAACCGGGCTTGGTGCAAAGCTCTTTGCAAGCCCTGACTCTTAAGCCTTTTGAGGTCAAGCCCCTTCTCTGTCTCAAACATTTTTGACCAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCTCGTCTCTACTAAAAATCCAAAAAAAAATTAGCCAGGCATGGTGGCAGGCTCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGGCAGGAGAATGGCATGAAAGCAGGAGGCAGAGCTTGCAGTGAGCCGAGATTGCACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACGCCGTCTGAAAAAAAAAAAAAAATTTTCATAGGCCACCAGTTGCGGTGGCTCACACCTGTAATCCCAGCATTTGGGAGACTGAGGCGGGCAGATCACTTGAGCCCAAGAGTTCAAGACCAGTCTGGGCCACATAGTGAGACACCATCTCTACAAAAAAAATACAAAAAATTAACCAGCACCACGGTGCATGCCTGTACTCTCAGCTACTCAGGAGGCTGAGGTTGGAGGATCTCTGAGCCCAGGGAGACTGAGGCTGCAGTGAGCCATGATCACACCACTGCACTCCAGCCTGGGGGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAATCTTCATAGCCATTATTTTGTTTAACTGCCTCAAATGCAGCCCAATTTCATCTTCTTGCCCCCTAAATCTGCTGCCGCCCTCTGTGTCTCATGCTTAGAACTCCTGTAGCTGTTCAGTGGCAAGGGTGGGGGTGCTGAGGGGGCAGAGGTGAGGTTGATGATTTGGAGCCAAGTGATCAGGCTTCACTTCCAGCCCTGCCATGCCGTGTGTGACTTTGGCATATCATTTCCCCTCTCTGGGCTTCAGTTTCCCAACTGCAAAGAGGAAAATAACACCTGCCGAACCTCACAAGGCTTACAGTTCTTAAAAGGGTTCTGTAAACCATGGAGGGTTTTGAAGAAGTGGGTCATGGATAAGATTCCCACCTACTGGGCTCCAACCTGTGATGAAGCTGAAGAGGGACTGGATGTGGGCCCGATCCTTAAGTAGGAGCGGCTGAGGCTGTTCCATATGACATCGGAGACCTTCTTCACCAGCTCACGGCTGGAGACACCCCCTTCTCGAGGATAGAGGGACAGGTCGACGGCGCCTCGGATCTGGGCGGTGAAGCGGGCATAGAGGGCGGCGATGATAGACAGGTCGGCCACGGGAAAGTAGGTGAGGCCGCCAGGCGGGTCGGGGGCGGGGCTGGGCTGGAAGGTGAGCTCGGGAACGTTGGTAGGGATGACGCGGTTGACAGCCAGAAAATGCTCCACGAAGCCCAGCACCAAGGAAAGGAGCACCAGGTCCGGCTCCTCTCGGCCCAGCTCGGCAGCAAACAGGCGCACCACGTCGTCGATGGAGCGCAGCGGGAACAGCGTCTTCTGGGCGGCCTTCAGCCCCATGGCGGCGGGCGGTGGGCGGCGGCCTGCAAGGCAAGCCGGGGGAGGGAGGGTCGGGCAGGTTCGGCCGGGGAGCCTCCTCCCAGGGTCCGCTAAGGTTCCACCCGCCCCGACACACGCACAGCTCCCCTGCTTCCCCACCCTCTTCAGCCTCTGCTCACCGGCTTCCCCTCTTTTGTCGGTGAGACCCCTCAGCCGAGACTGCAGAGCCTTTTTGTCCCCCACAATTCCGGGACGCCCGGTACCCGATGGGGTGCGCCCCAAGCACCCCAATGAGGAGCCCCAATGGCCGCCCCGCCCCCTCTCTACGACTGTGCCCCCGGGGCTGTAAAGTCTGTCCAGAAAGCGCACCCAGGTCAAGCCCCCAAACCCCAAGGAGAGTCCTGGCCTCGGTCCCCCTCGCCCACCTCCGCGCTTACATCCCACACTAGGCACCGCGGCGCACGCCGCCCGGAGCCTGCTGGGACATGAAGTCCCGCCCCTAGGGTCGCACTACCCGCCGGGAAGTGGAGTCTGGGCCCACCCCTGCCCCGCTGAGCCTGGAAATAGTGGCGGGCCGGGCCGCTGCGCTGTGGCTTCTGGGATCTCTAGGTCCGCGGCTCCGGACACCTCCTTCCCGAGATACTCAGGGATTGGCCCTTCCCTTCAGGCCGACCAGGCAGGAAGCGTGCCCGCAGTGCCTTCTGGAAAATGTAGTCCGGGGGCACTACCTGCAGACTCGGGGTGGGAGGTCGCCGAGCTTCTGCCGGTTTTGCTGTCACGGGTCGGTCGGCAAGTTATGAGGAAAAAGATCAGGTTGCTTGATCCAGAAAAAATTAAAATAAAACAATATGAGAAAAACAGATACTTTTAAACACTGCCAGAGAGTAAATGTGTTCAGCCGCTTTAGCTGGGTATCAGTGTCTGTTAACATATAAAGATGCCTACTCTGTGTGCAGCACTCGTTTCCCACTTCCGCCCGCGAGATACTCTAACACGTGCTAAGAGTAGCTTTTGTTTGTTTGTTTTGAGACACGGTCTTTCTCTTTCGCCCAGGCTGGAATGCAGTGGCTCGATCTGGGCTCACTGCAGCCTCGACTTCACGGGCTCAAGCGATTCTCGTGCCTCAGCCTCCCGAGTAGCTGTGATCACAGGCGTGCGCCACCACTCCCGCCTAATTTTGTGTGTATGTGCATATACATAAATATATATACATATAACACACACACACACACACACACACACACATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGCAGAGACAGGGATTCCCAGCTACTTGGGAGGCTGAGGCGCGGGGAATCCCTTGAACCTGGGAGGCGGAGGCTTCAGTGAGCCAGAATCTTGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGATTCCGTCTTAAAAAAAAGTCCCAAGTAGCTGGGATTATAGGCGTCCGCCACCACACCCAGAAAACTTTTTGTATTTTAAGTAGAGATGGGGTTTCACCATGTTGGCCAGACTGGTCTCGAACCCCTAACCTCAAGTGATCTGCCCGCCTCAGCCTCCCAAAGTGCTAAAATTACAGGCGTGAACCACCTTACCCGGCCAAAGAGTAGTTATTTGTTTATTTGTTTTGAGACAGAGTCTCGCN | pathogenic | 178,017 |
Gene mutation in MEN1 (menin 1) at chromosome 11, position 64809723—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Multiple_endocrine_neoplasia,_type_1'] | CCAGCTCTTAGGGGGGGATGAGATCATTATGTCTCATGATGGCCCACCCTGTGCCTGCTTCAGGGAATGACAGCCAGGAAAAGGGGCTCTTCTGTCTTCCCTTCCTATGTGGGTGGTGATGGGAAGAAAGGGGTGTGGCCCAAGAAAATGGAGTCCCTTGGGTGGCTTGGGCTACTACAGTATGAAGGGGACAAGGCTGGGGGGAGGGAACAATACCCGCTCAGCCACACCGGCATTGACTGTCTGGCCCCTGCGGTCCTCGTTGCCCTTGCCGTGCCAGGTGACCTCAGCTGTCTGCTCCCCATTGGGCCCAAACACTACCCAGGCATGATCCTCAGACAGGGCGAGGTGGACATCCCGGAGACCCAGGGCCTGGCAGGCCCCAACCACAGCAAAGGCCACACCGGAGCTGTCCAATTTGGTGCCTGTGGAAGGGGGAGGTAATGAAAGAGGGTCCTCTGTGCTTTAACATGGGGAAAGGGGGCCAGGTAGTGATGGGCCACACTCCCTCCCACTCCCTTTCCAAGCCTGTGACCCAACCTCAGATTCTCCTGCCCACTATCCCTCCATCCCTTCCCTCCCACGTGTTCAAAGACTCTCTCCCTGTTTACACCCTCTATGTCCAACAAGATACCTTTCTGGATATCCTGTAGCTGACCCAGCCTTTGGCCCTACCTCGTCTTTCTCTGCAACTCTATTATATATTCTATGGATTTAGGGATTCCATTTTACTGCACTTACTAGGTTAAAACAGGAATGGCAAAAACAGGACGCTGGCCAACACTCTCTGGCTATACACCCACCAACAAATAACCCTCATTTATCTCTGCACTCTTTTCCTGCTAAGCTGAGAAGCAGCCTCTGATTCCTTCTCAATATGGCACACCAGGATGGGATTGCCAGTCAACCGGGCTTGGTGCAAAGCTCTTTGCAAGCCCTGACTCTTAAGCCTTTTGAGGTCAAGCCCCTTCTCTGTCTCAAACATTTTTGACCAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCTCGTCTCTACTAAAAATCCAAAAAAAAATTAGCCAGGCATGGTGGCAGGCTCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGGCAGGAGAATGGCATGAAAGCAGGAGGCAGAGCTTGCAGTGAGCCGAGATTGCACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACGCCGTCTGAAAAAAAAAAAAAAATTTTCATAGGCCACCAGTTGCGGTGGCTCACACCTGTAATCCCAGCATTTGGGAGACTGAGGCGGGCAGATCACTTGAGCCCAAGAGTTCAAGACCAGTCTGGGCCACATAGTGAGACACCATCTCTACAAAAAAAATACAAAAAATTAACCAGCACCACGGTGCATGCCTGTACTCTCAGCTACTCAGGAGGCTGAGGTTGGAGGATCTCTGAGCCCAGGGAGACTGAGGCTGCAGTGAGCCATGATCACACCACTGCACTCCAGCCTGGGGGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAATCTTCATAGCCATTATTTTGTTTAACTGCCTCAAATGCAGCCCAATTTCATCTTCTTGCCCCCTAAATCTGCTGCCGCCCTCTGTGTCTCATGCTTAGAACTCCTGTAGCTGTTCAGTGGCAAGGGTGGGGGTGCTGAGGGGGCAGAGGTGAGGTTGATGATTTGGAGCCAAGTGATCAGGCTTCACTTCCAGCCCTGCCATGCCGTGTGTGACTTTGGCATATCATTTCCCCTCTCTGGGCTTCAGTTTCCCAACTGCAAAGAGGAAAATAACACCTGCCGAACCTCACAAGGCTTACAGTTCTTAAAAGGGTTCTGTAAACCATGGAGGGTTTTGAAGAAGTGGGTCATGGATAAGATTCCCACCTACTGGGCTCCAACCTGTGATGAAGCTGAAGAGGGACTGGATGTGGGCCCGATCCTTGAAGTAGGAGCGGCTGAGGCTGTTCCATATGACATCGGAGACCTTCTTCACCAGCTCACGGCTGGAGACACCCCCTTCTCGAGGATAGAGGGACAGGTCGACGGCGCCTCGGATCTGGGCGGTGAAGCGGGCATAGAGGGCGGCGATGATAGACAGGTCGGCCACGGGAAAGTAGGTGAGGCCGCCAGGCGGGTCGGGGGCGGGGCTGGGCTGGAAGGTGAGCTCGGGAACGTTGGTAGGGATGACGCGGTTGACAGCCAGAAAATGCTCCACGAAGCCCAGCACCAAGGAAAGGAGCACCAGGTCCGGCTCCTCTCGGCCCAGCTCGGCAGCAAACAGGCGCACCACGTCGTCGATGGAGCGCAGCGGGAACAGCGTCTTCTGGGCGGCCTTCAGCCCCATGGCGGCGGGCGGTGGGCGGCGGCCTGCAAGGCAAGCCGGGGGAGGGAGGGTCGGGCAGGTTCGGCCGGGGAGCCTCCTCCCAGGGTCCGCTAAGGTTCCACCCGCCCCGACACACGCACAGCTCCCCTGCTTCCCCACCCTCTTCAGCCTCTGCTCACCGGCTTCCCCTCTTTTGTCGGTGAGACCCCTCAGCCGAGACTGCAGAGCCTTTTTGTCCCCCACAATTCCGGGACGCCCGGTACCCGATGGGGTGCGCCCCAAGCACCCCAATGAGGAGCCCCAATGGCCGCCCCGCCCCCTCTCTACGACTGTGCCCCCGGGGCTGTAAAGTCTGTCCAGAAAGCGCACCCAGGTCAAGCCCCCAAACCCCAAGGAGAGTCCTGGCCTCGGTCCCCCTCGCCCACCTCCGCGCTTACATCCCACACTAGGCACCGCGGCGCACGCCGCCCGGAGCCTGCTGGGACATGAAGTCCCGCCCCTAGGGTCGCACTACCCGCCGGGAAGTGGAGTCTGGGCCCACCCCTGCCCCGCTGAGCCTGGAAATAGTGGCGGGCCGGGCCGCTGCGCTGTGGCTTCTGGGATCTCTAGGTCCGCGGCTCCGGACACCTCCTTCCCGAGATACTCAGGGATTGGCCCTTCCCTTCAGGCCGACCAGGCAGGAAGCGTGCCCGCAGTGCCTTCTGGAAAATGTAGTCCGGGGGCACTACCTGCAGACTCGGGGTGGGAGGTCGCCGAGCTTCTGCCGGTTTTGCTGTCACGGGTCGGTCGGCAAGTTATGAGGAAAAAGATCAGGTTGCTTGATCCAGAAAAAATTAAAATAAAACAATATGAGAAAAACAGATACTTTTAAACACTGCCAGAGAGTAAATGTGTTCAGCCGCTTTAGCTGGGTATCAGTGTCTGTTAACATATAAAGATGCCTACTCTGTGTGCAGCACTCGTTTCCCACTTCCGCCCGCGAGATACTCTAACACGTGCTAAGAGTAGCTTTTGTTTGTTTGTTTTGAGACACGGTCTTTCTCTTTCGCCCAGGCTGGAATGCAGTGGCTCGATCTGGGCTCACTGCAGCCTCGACTTCACGGGCTCAAGCGATTCTCGTGCCTCAGCCTCCCGAGTAGCTGTGATCACAGGCGTGCGCCACCACTCCCGCCTAATTTTGTGTGTATGTGCATATACATAAATATATATACATATAACACACACACACACACACACACACACACATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGCAGAGACAGGGATTCCCAGCTACTTGGGAGGCTGAGGCGCGGGGAATCCCTTGAACCTGGGAGGCGGAGGCTTCAGTGAGCCAGAATCTTGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGATTCCGTCTTAAAAAAAAGTCCCAAGTAGCTGGGATTATAGGCGTCCGCCACCACACCCAGAAAACTTTTTGTATTTTAAGTAGAGATGGGGTTTCACCATGTTGGCCAGACTGGTCTCGAACCCCTAACCTCAAGTGATCTGCCCGCCTCAGCCTCCCAAAGTGCTAAAATTACAGGCGTGAACCACCTTACCCGGCCAAAGAGTAGTTATTTGTTTATTTGTTTTGAGACAGAGTCTCGCTCTGTCACTCAGGCTG | CCAGCTCTTAGGGGGGGATGAGATCATTATGTCTCATGATGGCCCACCCTGTGCCTGCTTCAGGGAATGACAGCCAGGAAAAGGGGCTCTTCTGTCTTCCCTTCCTATGTGGGTGGTGATGGGAAGAAAGGGGTGTGGCCCAAGAAAATGGAGTCCCTTGGGTGGCTTGGGCTACTACAGTATGAAGGGGACAAGGCTGGGGGGAGGGAACAATACCCGCTCAGCCACACCGGCATTGACTGTCTGGCCCCTGCGGTCCTCGTTGCCCTTGCCGTGCCAGGTGACCTCAGCTGTCTGCTCCCCATTGGGCCCAAACACTACCCAGGCATGATCCTCAGACAGGGCGAGGTGGACATCCCGGAGACCCAGGGCCTGGCAGGCCCCAACCACAGCAAAGGCCACACCGGAGCTGTCCAATTTGGTGCCTGTGGAAGGGGGAGGTAATGAAAGAGGGTCCTCTGTGCTTTAACATGGGGAAAGGGGGCCAGGTAGTGATGGGCCACACTCCCTCCCACTCCCTTTCCAAGCCTGTGACCCAACCTCAGATTCTCCTGCCCACTATCCCTCCATCCCTTCCCTCCCACGTGTTCAAAGACTCTCTCCCTGTTTACACCCTCTATGTCCAACAAGATACCTTTCTGGATATCCTGTAGCTGACCCAGCCTTTGGCCCTACCTCGTCTTTCTCTGCAACTCTATTATATATTCTATGGATTTAGGGATTCCATTTTACTGCACTTACTAGGTTAAAACAGGAATGGCAAAAACAGGACGCTGGCCAACACTCTCTGGCTATACACCCACCAACAAATAACCCTCATTTATCTCTGCACTCTTTTCCTGCTAAGCTGAGAAGCAGCCTCTGATTCCTTCTCAATATGGCACACCAGGATGGGATTGCCAGTCAACCGGGCTTGGTGCAAAGCTCTTTGCAAGCCCTGACTCTTAAGCCTTTTGAGGTCAAGCCCCTTCTCTGTCTCAAACATTTTTGACCAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCTCGTCTCTACTAAAAATCCAAAAAAAAATTAGCCAGGCATGGTGGCAGGCTCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGGCAGGAGAATGGCATGAAAGCAGGAGGCAGAGCTTGCAGTGAGCCGAGATTGCACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACGCCGTCTGAAAAAAAAAAAAAAATTTTCATAGGCCACCAGTTGCGGTGGCTCACACCTGTAATCCCAGCATTTGGGAGACTGAGGCGGGCAGATCACTTGAGCCCAAGAGTTCAAGACCAGTCTGGGCCACATAGTGAGACACCATCTCTACAAAAAAAATACAAAAAATTAACCAGCACCACGGTGCATGCCTGTACTCTCAGCTACTCAGGAGGCTGAGGTTGGAGGATCTCTGAGCCCAGGGAGACTGAGGCTGCAGTGAGCCATGATCACACCACTGCACTCCAGCCTGGGGGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAATCTTCATAGCCATTATTTTGTTTAACTGCCTCAAATGCAGCCCAATTTCATCTTCTTGCCCCCTAAATCTGCTGCCGCCCTCTGTGTCTCATGCTTAGAACTCCTGTAGCTGTTCAGTGGCAAGGGTGGGGGTGCTGAGGGGGCAGAGGTGAGGTTGATGATTTGGAGCCAAGTGATCAGGCTTCACTTCCAGCCCTGCCATGCCGTGTGTGACTTTGGCATATCATTTCCCCTCTCTGGGCTTCAGTTTCCCAACTGCAAAGAGGAAAATAACACCTGCCGAACCTCACAAGGCTTACAGTTCTTAAAAGGGTTCTGTAAACCATGGAGGGTTTTGAAGAAGTGGGTCATGGATAAGATTCCCACCTACTGGGCTCCAACCTGTGATGAAGCTGAAGAGGGACTGGATGTGGGCCCGATCCTTGAAGTAGGAGCGGCTGGGCTGTTCCATATGACATCGGAGACCTTCTTCACCAGCTCACGGCTGGAGACACCCCCTTCTCGAGGATAGAGGGACAGGTCGACGGCGCCTCGGATCTGGGCGGTGAAGCGGGCATAGAGGGCGGCGATGATAGACAGGTCGGCCACGGGAAAGTAGGTGAGGCCGCCAGGCGGGTCGGGGGCGGGGCTGGGCTGGAAGGTGAGCTCGGGAACGTTGGTAGGGATGACGCGGTTGACAGCCAGAAAATGCTCCACGAAGCCCAGCACCAAGGAAAGGAGCACCAGGTCCGGCTCCTCTCGGCCCAGCTCGGCAGCAAACAGGCGCACCACGTCGTCGATGGAGCGCAGCGGGAACAGCGTCTTCTGGGCGGCCTTCAGCCCCATGGCGGCGGGCGGTGGGCGGCGGCCTGCAAGGCAAGCCGGGGGAGGGAGGGTCGGGCAGGTTCGGCCGGGGAGCCTCCTCCCAGGGTCCGCTAAGGTTCCACCCGCCCCGACACACGCACAGCTCCCCTGCTTCCCCACCCTCTTCAGCCTCTGCTCACCGGCTTCCCCTCTTTTGTCGGTGAGACCCCTCAGCCGAGACTGCAGAGCCTTTTTGTCCCCCACAATTCCGGGACGCCCGGTACCCGATGGGGTGCGCCCCAAGCACCCCAATGAGGAGCCCCAATGGCCGCCCCGCCCCCTCTCTACGACTGTGCCCCCGGGGCTGTAAAGTCTGTCCAGAAAGCGCACCCAGGTCAAGCCCCCAAACCCCAAGGAGAGTCCTGGCCTCGGTCCCCCTCGCCCACCTCCGCGCTTACATCCCACACTAGGCACCGCGGCGCACGCCGCCCGGAGCCTGCTGGGACATGAAGTCCCGCCCCTAGGGTCGCACTACCCGCCGGGAAGTGGAGTCTGGGCCCACCCCTGCCCCGCTGAGCCTGGAAATAGTGGCGGGCCGGGCCGCTGCGCTGTGGCTTCTGGGATCTCTAGGTCCGCGGCTCCGGACACCTCCTTCCCGAGATACTCAGGGATTGGCCCTTCCCTTCAGGCCGACCAGGCAGGAAGCGTGCCCGCAGTGCCTTCTGGAAAATGTAGTCCGGGGGCACTACCTGCAGACTCGGGGTGGGAGGTCGCCGAGCTTCTGCCGGTTTTGCTGTCACGGGTCGGTCGGCAAGTTATGAGGAAAAAGATCAGGTTGCTTGATCCAGAAAAAATTAAAATAAAACAATATGAGAAAAACAGATACTTTTAAACACTGCCAGAGAGTAAATGTGTTCAGCCGCTTTAGCTGGGTATCAGTGTCTGTTAACATATAAAGATGCCTACTCTGTGTGCAGCACTCGTTTCCCACTTCCGCCCGCGAGATACTCTAACACGTGCTAAGAGTAGCTTTTGTTTGTTTGTTTTGAGACACGGTCTTTCTCTTTCGCCCAGGCTGGAATGCAGTGGCTCGATCTGGGCTCACTGCAGCCTCGACTTCACGGGCTCAAGCGATTCTCGTGCCTCAGCCTCCCGAGTAGCTGTGATCACAGGCGTGCGCCACCACTCCCGCCTAATTTTGTGTGTATGTGCATATACATAAATATATATACATATAACACACACACACACACACACACACACACATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGCAGAGACAGGGATTCCCAGCTACTTGGGAGGCTGAGGCGCGGGGAATCCCTTGAACCTGGGAGGCGGAGGCTTCAGTGAGCCAGAATCTTGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGATTCCGTCTTAAAAAAAAGTCCCAAGTAGCTGGGATTATAGGCGTCCGCCACCACACCCAGAAAACTTTTTGTATTTTAAGTAGAGATGGGGTTTCACCATGTTGGCCAGACTGGTCTCGAACCCCTAACCTCAAGTGATCTGCCCGCCTCAGCCTCCCAAAGTGCTAAAATTACAGGCGTGAACCACCTTACCCGGCCAAAGAGTAGTTATTTGTTTATTTGTTTTGAGACAGAGTCTCGCTCTGTCACTCAGGCTGN | pathogenic | 178,023 |
A genetic variant at chromosome 11, position 64809742, affecting gene MEN1 (menin 1)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Multiple_endocrine_neoplasia,_type_1'] | GAGATCATTATGTCTCATGATGGCCCACCCTGTGCCTGCTTCAGGGAATGACAGCCAGGAAAAGGGGCTCTTCTGTCTTCCCTTCCTATGTGGGTGGTGATGGGAAGAAAGGGGTGTGGCCCAAGAAAATGGAGTCCCTTGGGTGGCTTGGGCTACTACAGTATGAAGGGGACAAGGCTGGGGGGAGGGAACAATACCCGCTCAGCCACACCGGCATTGACTGTCTGGCCCCTGCGGTCCTCGTTGCCCTTGCCGTGCCAGGTGACCTCAGCTGTCTGCTCCCCATTGGGCCCAAACACTACCCAGGCATGATCCTCAGACAGGGCGAGGTGGACATCCCGGAGACCCAGGGCCTGGCAGGCCCCAACCACAGCAAAGGCCACACCGGAGCTGTCCAATTTGGTGCCTGTGGAAGGGGGAGGTAATGAAAGAGGGTCCTCTGTGCTTTAACATGGGGAAAGGGGGCCAGGTAGTGATGGGCCACACTCCCTCCCACTCCCTTTCCAAGCCTGTGACCCAACCTCAGATTCTCCTGCCCACTATCCCTCCATCCCTTCCCTCCCACGTGTTCAAAGACTCTCTCCCTGTTTACACCCTCTATGTCCAACAAGATACCTTTCTGGATATCCTGTAGCTGACCCAGCCTTTGGCCCTACCTCGTCTTTCTCTGCAACTCTATTATATATTCTATGGATTTAGGGATTCCATTTTACTGCACTTACTAGGTTAAAACAGGAATGGCAAAAACAGGACGCTGGCCAACACTCTCTGGCTATACACCCACCAACAAATAACCCTCATTTATCTCTGCACTCTTTTCCTGCTAAGCTGAGAAGCAGCCTCTGATTCCTTCTCAATATGGCACACCAGGATGGGATTGCCAGTCAACCGGGCTTGGTGCAAAGCTCTTTGCAAGCCCTGACTCTTAAGCCTTTTGAGGTCAAGCCCCTTCTCTGTCTCAAACATTTTTGACCAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCTCGTCTCTACTAAAAATCCAAAAAAAAATTAGCCAGGCATGGTGGCAGGCTCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGGCAGGAGAATGGCATGAAAGCAGGAGGCAGAGCTTGCAGTGAGCCGAGATTGCACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACGCCGTCTGAAAAAAAAAAAAAAATTTTCATAGGCCACCAGTTGCGGTGGCTCACACCTGTAATCCCAGCATTTGGGAGACTGAGGCGGGCAGATCACTTGAGCCCAAGAGTTCAAGACCAGTCTGGGCCACATAGTGAGACACCATCTCTACAAAAAAAATACAAAAAATTAACCAGCACCACGGTGCATGCCTGTACTCTCAGCTACTCAGGAGGCTGAGGTTGGAGGATCTCTGAGCCCAGGGAGACTGAGGCTGCAGTGAGCCATGATCACACCACTGCACTCCAGCCTGGGGGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAATCTTCATAGCCATTATTTTGTTTAACTGCCTCAAATGCAGCCCAATTTCATCTTCTTGCCCCCTAAATCTGCTGCCGCCCTCTGTGTCTCATGCTTAGAACTCCTGTAGCTGTTCAGTGGCAAGGGTGGGGGTGCTGAGGGGGCAGAGGTGAGGTTGATGATTTGGAGCCAAGTGATCAGGCTTCACTTCCAGCCCTGCCATGCCGTGTGTGACTTTGGCATATCATTTCCCCTCTCTGGGCTTCAGTTTCCCAACTGCAAAGAGGAAAATAACACCTGCCGAACCTCACAAGGCTTACAGTTCTTAAAAGGGTTCTGTAAACCATGGAGGGTTTTGAAGAAGTGGGTCATGGATAAGATTCCCACCTACTGGGCTCCAACCTGTGATGAAGCTGAAGAGGGACTGGATGTGGGCCCGATCCTTGAAGTAGGAGCGGCTGAGGCTGTTCCATATGACATCGGAGACCTTCTTCACCAGCTCACGGCTGGAGACACCCCCTTCTCGAGGATAGAGGGACAGGTCGACGGCGCCTCGGATCTGGGCGGTGAAGCGGGCATAGAGGGCGGCGATGATAGACAGGTCGGCCACGGGAAAGTAGGTGAGGCCGCCAGGCGGGTCGGGGGCGGGGCTGGGCTGGAAGGTGAGCTCGGGAACGTTGGTAGGGATGACGCGGTTGACAGCCAGAAAATGCTCCACGAAGCCCAGCACCAAGGAAAGGAGCACCAGGTCCGGCTCCTCTCGGCCCAGCTCGGCAGCAAACAGGCGCACCACGTCGTCGATGGAGCGCAGCGGGAACAGCGTCTTCTGGGCGGCCTTCAGCCCCATGGCGGCGGGCGGTGGGCGGCGGCCTGCAAGGCAAGCCGGGGGAGGGAGGGTCGGGCAGGTTCGGCCGGGGAGCCTCCTCCCAGGGTCCGCTAAGGTTCCACCCGCCCCGACACACGCACAGCTCCCCTGCTTCCCCACCCTCTTCAGCCTCTGCTCACCGGCTTCCCCTCTTTTGTCGGTGAGACCCCTCAGCCGAGACTGCAGAGCCTTTTTGTCCCCCACAATTCCGGGACGCCCGGTACCCGATGGGGTGCGCCCCAAGCACCCCAATGAGGAGCCCCAATGGCCGCCCCGCCCCCTCTCTACGACTGTGCCCCCGGGGCTGTAAAGTCTGTCCAGAAAGCGCACCCAGGTCAAGCCCCCAAACCCCAAGGAGAGTCCTGGCCTCGGTCCCCCTCGCCCACCTCCGCGCTTACATCCCACACTAGGCACCGCGGCGCACGCCGCCCGGAGCCTGCTGGGACATGAAGTCCCGCCCCTAGGGTCGCACTACCCGCCGGGAAGTGGAGTCTGGGCCCACCCCTGCCCCGCTGAGCCTGGAAATAGTGGCGGGCCGGGCCGCTGCGCTGTGGCTTCTGGGATCTCTAGGTCCGCGGCTCCGGACACCTCCTTCCCGAGATACTCAGGGATTGGCCCTTCCCTTCAGGCCGACCAGGCAGGAAGCGTGCCCGCAGTGCCTTCTGGAAAATGTAGTCCGGGGGCACTACCTGCAGACTCGGGGTGGGAGGTCGCCGAGCTTCTGCCGGTTTTGCTGTCACGGGTCGGTCGGCAAGTTATGAGGAAAAAGATCAGGTTGCTTGATCCAGAAAAAATTAAAATAAAACAATATGAGAAAAACAGATACTTTTAAACACTGCCAGAGAGTAAATGTGTTCAGCCGCTTTAGCTGGGTATCAGTGTCTGTTAACATATAAAGATGCCTACTCTGTGTGCAGCACTCGTTTCCCACTTCCGCCCGCGAGATACTCTAACACGTGCTAAGAGTAGCTTTTGTTTGTTTGTTTTGAGACACGGTCTTTCTCTTTCGCCCAGGCTGGAATGCAGTGGCTCGATCTGGGCTCACTGCAGCCTCGACTTCACGGGCTCAAGCGATTCTCGTGCCTCAGCCTCCCGAGTAGCTGTGATCACAGGCGTGCGCCACCACTCCCGCCTAATTTTGTGTGTATGTGCATATACATAAATATATATACATATAACACACACACACACACACACACACACACATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGCAGAGACAGGGATTCCCAGCTACTTGGGAGGCTGAGGCGCGGGGAATCCCTTGAACCTGGGAGGCGGAGGCTTCAGTGAGCCAGAATCTTGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGATTCCGTCTTAAAAAAAAGTCCCAAGTAGCTGGGATTATAGGCGTCCGCCACCACACCCAGAAAACTTTTTGTATTTTAAGTAGAGATGGGGTTTCACCATGTTGGCCAGACTGGTCTCGAACCCCTAACCTCAAGTGATCTGCCCGCCTCAGCCTCCCAAAGTGCTAAAATTACAGGCGTGAACCACCTTACCCGGCCAAAGAGTAGTTATTTGTTTATTTGTTTTGAGACAGAGTCTCGCTCTGTCACTCAGGCTGGAGTGCAGTGGGGTGATCT | GAGATCATTATGTCTCATGATGGCCCACCCTGTGCCTGCTTCAGGGAATGACAGCCAGGAAAAGGGGCTCTTCTGTCTTCCCTTCCTATGTGGGTGGTGATGGGAAGAAAGGGGTGTGGCCCAAGAAAATGGAGTCCCTTGGGTGGCTTGGGCTACTACAGTATGAAGGGGACAAGGCTGGGGGGAGGGAACAATACCCGCTCAGCCACACCGGCATTGACTGTCTGGCCCCTGCGGTCCTCGTTGCCCTTGCCGTGCCAGGTGACCTCAGCTGTCTGCTCCCCATTGGGCCCAAACACTACCCAGGCATGATCCTCAGACAGGGCGAGGTGGACATCCCGGAGACCCAGGGCCTGGCAGGCCCCAACCACAGCAAAGGCCACACCGGAGCTGTCCAATTTGGTGCCTGTGGAAGGGGGAGGTAATGAAAGAGGGTCCTCTGTGCTTTAACATGGGGAAAGGGGGCCAGGTAGTGATGGGCCACACTCCCTCCCACTCCCTTTCCAAGCCTGTGACCCAACCTCAGATTCTCCTGCCCACTATCCCTCCATCCCTTCCCTCCCACGTGTTCAAAGACTCTCTCCCTGTTTACACCCTCTATGTCCAACAAGATACCTTTCTGGATATCCTGTAGCTGACCCAGCCTTTGGCCCTACCTCGTCTTTCTCTGCAACTCTATTATATATTCTATGGATTTAGGGATTCCATTTTACTGCACTTACTAGGTTAAAACAGGAATGGCAAAAACAGGACGCTGGCCAACACTCTCTGGCTATACACCCACCAACAAATAACCCTCATTTATCTCTGCACTCTTTTCCTGCTAAGCTGAGAAGCAGCCTCTGATTCCTTCTCAATATGGCACACCAGGATGGGATTGCCAGTCAACCGGGCTTGGTGCAAAGCTCTTTGCAAGCCCTGACTCTTAAGCCTTTTGAGGTCAAGCCCCTTCTCTGTCTCAAACATTTTTGACCAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCTCGTCTCTACTAAAAATCCAAAAAAAAATTAGCCAGGCATGGTGGCAGGCTCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGGCAGGAGAATGGCATGAAAGCAGGAGGCAGAGCTTGCAGTGAGCCGAGATTGCACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACGCCGTCTGAAAAAAAAAAAAAAATTTTCATAGGCCACCAGTTGCGGTGGCTCACACCTGTAATCCCAGCATTTGGGAGACTGAGGCGGGCAGATCACTTGAGCCCAAGAGTTCAAGACCAGTCTGGGCCACATAGTGAGACACCATCTCTACAAAAAAAATACAAAAAATTAACCAGCACCACGGTGCATGCCTGTACTCTCAGCTACTCAGGAGGCTGAGGTTGGAGGATCTCTGAGCCCAGGGAGACTGAGGCTGCAGTGAGCCATGATCACACCACTGCACTCCAGCCTGGGGGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAATCTTCATAGCCATTATTTTGTTTAACTGCCTCAAATGCAGCCCAATTTCATCTTCTTGCCCCCTAAATCTGCTGCCGCCCTCTGTGTCTCATGCTTAGAACTCCTGTAGCTGTTCAGTGGCAAGGGTGGGGGTGCTGAGGGGGCAGAGGTGAGGTTGATGATTTGGAGCCAAGTGATCAGGCTTCACTTCCAGCCCTGCCATGCCGTGTGTGACTTTGGCATATCATTTCCCCTCTCTGGGCTTCAGTTTCCCAACTGCAAAGAGGAAAATAACACCTGCCGAACCTCACAAGGCTTACAGTTCTTAAAAGGGTTCTGTAAACCATGGAGGGTTTTGAAGAAGTGGGTCATGGATAAGATTCCCACCTACTGGGCTCCAACCTGTGATGAAGCTGAAGAGGGACTGGATGTGGGCCCGATCCTTGAAGTAGGAGCGGCTGAGGCTGTTCCATATGACATCCGGAGACCTTCTTCACCAGCTCACGGCTGGAGACACCCCCTTCTCGAGGATAGAGGGACAGGTCGACGGCGCCTCGGATCTGGGCGGTGAAGCGGGCATAGAGGGCGGCGATGATAGACAGGTCGGCCACGGGAAAGTAGGTGAGGCCGCCAGGCGGGTCGGGGGCGGGGCTGGGCTGGAAGGTGAGCTCGGGAACGTTGGTAGGGATGACGCGGTTGACAGCCAGAAAATGCTCCACGAAGCCCAGCACCAAGGAAAGGAGCACCAGGTCCGGCTCCTCTCGGCCCAGCTCGGCAGCAAACAGGCGCACCACGTCGTCGATGGAGCGCAGCGGGAACAGCGTCTTCTGGGCGGCCTTCAGCCCCATGGCGGCGGGCGGTGGGCGGCGGCCTGCAAGGCAAGCCGGGGGAGGGAGGGTCGGGCAGGTTCGGCCGGGGAGCCTCCTCCCAGGGTCCGCTAAGGTTCCACCCGCCCCGACACACGCACAGCTCCCCTGCTTCCCCACCCTCTTCAGCCTCTGCTCACCGGCTTCCCCTCTTTTGTCGGTGAGACCCCTCAGCCGAGACTGCAGAGCCTTTTTGTCCCCCACAATTCCGGGACGCCCGGTACCCGATGGGGTGCGCCCCAAGCACCCCAATGAGGAGCCCCAATGGCCGCCCCGCCCCCTCTCTACGACTGTGCCCCCGGGGCTGTAAAGTCTGTCCAGAAAGCGCACCCAGGTCAAGCCCCCAAACCCCAAGGAGAGTCCTGGCCTCGGTCCCCCTCGCCCACCTCCGCGCTTACATCCCACACTAGGCACCGCGGCGCACGCCGCCCGGAGCCTGCTGGGACATGAAGTCCCGCCCCTAGGGTCGCACTACCCGCCGGGAAGTGGAGTCTGGGCCCACCCCTGCCCCGCTGAGCCTGGAAATAGTGGCGGGCCGGGCCGCTGCGCTGTGGCTTCTGGGATCTCTAGGTCCGCGGCTCCGGACACCTCCTTCCCGAGATACTCAGGGATTGGCCCTTCCCTTCAGGCCGACCAGGCAGGAAGCGTGCCCGCAGTGCCTTCTGGAAAATGTAGTCCGGGGGCACTACCTGCAGACTCGGGGTGGGAGGTCGCCGAGCTTCTGCCGGTTTTGCTGTCACGGGTCGGTCGGCAAGTTATGAGGAAAAAGATCAGGTTGCTTGATCCAGAAAAAATTAAAATAAAACAATATGAGAAAAACAGATACTTTTAAACACTGCCAGAGAGTAAATGTGTTCAGCCGCTTTAGCTGGGTATCAGTGTCTGTTAACATATAAAGATGCCTACTCTGTGTGCAGCACTCGTTTCCCACTTCCGCCCGCGAGATACTCTAACACGTGCTAAGAGTAGCTTTTGTTTGTTTGTTTTGAGACACGGTCTTTCTCTTTCGCCCAGGCTGGAATGCAGTGGCTCGATCTGGGCTCACTGCAGCCTCGACTTCACGGGCTCAAGCGATTCTCGTGCCTCAGCCTCCCGAGTAGCTGTGATCACAGGCGTGCGCCACCACTCCCGCCTAATTTTGTGTGTATGTGCATATACATAAATATATATACATATAACACACACACACACACACACACACACACATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGCAGAGACAGGGATTCCCAGCTACTTGGGAGGCTGAGGCGCGGGGAATCCCTTGAACCTGGGAGGCGGAGGCTTCAGTGAGCCAGAATCTTGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGATTCCGTCTTAAAAAAAAGTCCCAAGTAGCTGGGATTATAGGCGTCCGCCACCACACCCAGAAAACTTTTTGTATTTTAAGTAGAGATGGGGTTTCACCATGTTGGCCAGACTGGTCTCGAACCCCTAACCTCAAGTGATCTGCCCGCCTCAGCCTCCCAAAGTGCTAAAATTACAGGCGTGAACCACCTTACCCGGCCAAAGAGTAGTTATTTGTTTATTTGTTTTGAGACAGAGTCTCGCTCTGTCACTCAGGCTGGAGTGCAGTGGGGTGATC | pathogenic | 178,025 |
Clinical impact (benign or pathogenic) of the variant at chromosome 11, location 64809749, gene MEN1 (menin 1): what disease(s) if pathogenic? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Multiple_endocrine_neoplasia,_type_1'] | TTATGTCTCATGATGGCCCACCCTGTGCCTGCTTCAGGGAATGACAGCCAGGAAAAGGGGCTCTTCTGTCTTCCCTTCCTATGTGGGTGGTGATGGGAAGAAAGGGGTGTGGCCCAAGAAAATGGAGTCCCTTGGGTGGCTTGGGCTACTACAGTATGAAGGGGACAAGGCTGGGGGGAGGGAACAATACCCGCTCAGCCACACCGGCATTGACTGTCTGGCCCCTGCGGTCCTCGTTGCCCTTGCCGTGCCAGGTGACCTCAGCTGTCTGCTCCCCATTGGGCCCAAACACTACCCAGGCATGATCCTCAGACAGGGCGAGGTGGACATCCCGGAGACCCAGGGCCTGGCAGGCCCCAACCACAGCAAAGGCCACACCGGAGCTGTCCAATTTGGTGCCTGTGGAAGGGGGAGGTAATGAAAGAGGGTCCTCTGTGCTTTAACATGGGGAAAGGGGGCCAGGTAGTGATGGGCCACACTCCCTCCCACTCCCTTTCCAAGCCTGTGACCCAACCTCAGATTCTCCTGCCCACTATCCCTCCATCCCTTCCCTCCCACGTGTTCAAAGACTCTCTCCCTGTTTACACCCTCTATGTCCAACAAGATACCTTTCTGGATATCCTGTAGCTGACCCAGCCTTTGGCCCTACCTCGTCTTTCTCTGCAACTCTATTATATATTCTATGGATTTAGGGATTCCATTTTACTGCACTTACTAGGTTAAAACAGGAATGGCAAAAACAGGACGCTGGCCAACACTCTCTGGCTATACACCCACCAACAAATAACCCTCATTTATCTCTGCACTCTTTTCCTGCTAAGCTGAGAAGCAGCCTCTGATTCCTTCTCAATATGGCACACCAGGATGGGATTGCCAGTCAACCGGGCTTGGTGCAAAGCTCTTTGCAAGCCCTGACTCTTAAGCCTTTTGAGGTCAAGCCCCTTCTCTGTCTCAAACATTTTTGACCAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCTCGTCTCTACTAAAAATCCAAAAAAAAATTAGCCAGGCATGGTGGCAGGCTCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGGCAGGAGAATGGCATGAAAGCAGGAGGCAGAGCTTGCAGTGAGCCGAGATTGCACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACGCCGTCTGAAAAAAAAAAAAAAATTTTCATAGGCCACCAGTTGCGGTGGCTCACACCTGTAATCCCAGCATTTGGGAGACTGAGGCGGGCAGATCACTTGAGCCCAAGAGTTCAAGACCAGTCTGGGCCACATAGTGAGACACCATCTCTACAAAAAAAATACAAAAAATTAACCAGCACCACGGTGCATGCCTGTACTCTCAGCTACTCAGGAGGCTGAGGTTGGAGGATCTCTGAGCCCAGGGAGACTGAGGCTGCAGTGAGCCATGATCACACCACTGCACTCCAGCCTGGGGGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAATCTTCATAGCCATTATTTTGTTTAACTGCCTCAAATGCAGCCCAATTTCATCTTCTTGCCCCCTAAATCTGCTGCCGCCCTCTGTGTCTCATGCTTAGAACTCCTGTAGCTGTTCAGTGGCAAGGGTGGGGGTGCTGAGGGGGCAGAGGTGAGGTTGATGATTTGGAGCCAAGTGATCAGGCTTCACTTCCAGCCCTGCCATGCCGTGTGTGACTTTGGCATATCATTTCCCCTCTCTGGGCTTCAGTTTCCCAACTGCAAAGAGGAAAATAACACCTGCCGAACCTCACAAGGCTTACAGTTCTTAAAAGGGTTCTGTAAACCATGGAGGGTTTTGAAGAAGTGGGTCATGGATAAGATTCCCACCTACTGGGCTCCAACCTGTGATGAAGCTGAAGAGGGACTGGATGTGGGCCCGATCCTTGAAGTAGGAGCGGCTGAGGCTGTTCCATATGACATCGGAGACCTTCTTCACCAGCTCACGGCTGGAGACACCCCCTTCTCGAGGATAGAGGGACAGGTCGACGGCGCCTCGGATCTGGGCGGTGAAGCGGGCATAGAGGGCGGCGATGATAGACAGGTCGGCCACGGGAAAGTAGGTGAGGCCGCCAGGCGGGTCGGGGGCGGGGCTGGGCTGGAAGGTGAGCTCGGGAACGTTGGTAGGGATGACGCGGTTGACAGCCAGAAAATGCTCCACGAAGCCCAGCACCAAGGAAAGGAGCACCAGGTCCGGCTCCTCTCGGCCCAGCTCGGCAGCAAACAGGCGCACCACGTCGTCGATGGAGCGCAGCGGGAACAGCGTCTTCTGGGCGGCCTTCAGCCCCATGGCGGCGGGCGGTGGGCGGCGGCCTGCAAGGCAAGCCGGGGGAGGGAGGGTCGGGCAGGTTCGGCCGGGGAGCCTCCTCCCAGGGTCCGCTAAGGTTCCACCCGCCCCGACACACGCACAGCTCCCCTGCTTCCCCACCCTCTTCAGCCTCTGCTCACCGGCTTCCCCTCTTTTGTCGGTGAGACCCCTCAGCCGAGACTGCAGAGCCTTTTTGTCCCCCACAATTCCGGGACGCCCGGTACCCGATGGGGTGCGCCCCAAGCACCCCAATGAGGAGCCCCAATGGCCGCCCCGCCCCCTCTCTACGACTGTGCCCCCGGGGCTGTAAAGTCTGTCCAGAAAGCGCACCCAGGTCAAGCCCCCAAACCCCAAGGAGAGTCCTGGCCTCGGTCCCCCTCGCCCACCTCCGCGCTTACATCCCACACTAGGCACCGCGGCGCACGCCGCCCGGAGCCTGCTGGGACATGAAGTCCCGCCCCTAGGGTCGCACTACCCGCCGGGAAGTGGAGTCTGGGCCCACCCCTGCCCCGCTGAGCCTGGAAATAGTGGCGGGCCGGGCCGCTGCGCTGTGGCTTCTGGGATCTCTAGGTCCGCGGCTCCGGACACCTCCTTCCCGAGATACTCAGGGATTGGCCCTTCCCTTCAGGCCGACCAGGCAGGAAGCGTGCCCGCAGTGCCTTCTGGAAAATGTAGTCCGGGGGCACTACCTGCAGACTCGGGGTGGGAGGTCGCCGAGCTTCTGCCGGTTTTGCTGTCACGGGTCGGTCGGCAAGTTATGAGGAAAAAGATCAGGTTGCTTGATCCAGAAAAAATTAAAATAAAACAATATGAGAAAAACAGATACTTTTAAACACTGCCAGAGAGTAAATGTGTTCAGCCGCTTTAGCTGGGTATCAGTGTCTGTTAACATATAAAGATGCCTACTCTGTGTGCAGCACTCGTTTCCCACTTCCGCCCGCGAGATACTCTAACACGTGCTAAGAGTAGCTTTTGTTTGTTTGTTTTGAGACACGGTCTTTCTCTTTCGCCCAGGCTGGAATGCAGTGGCTCGATCTGGGCTCACTGCAGCCTCGACTTCACGGGCTCAAGCGATTCTCGTGCCTCAGCCTCCCGAGTAGCTGTGATCACAGGCGTGCGCCACCACTCCCGCCTAATTTTGTGTGTATGTGCATATACATAAATATATATACATATAACACACACACACACACACACACACACACATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGCAGAGACAGGGATTCCCAGCTACTTGGGAGGCTGAGGCGCGGGGAATCCCTTGAACCTGGGAGGCGGAGGCTTCAGTGAGCCAGAATCTTGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGATTCCGTCTTAAAAAAAAGTCCCAAGTAGCTGGGATTATAGGCGTCCGCCACCACACCCAGAAAACTTTTTGTATTTTAAGTAGAGATGGGGTTTCACCATGTTGGCCAGACTGGTCTCGAACCCCTAACCTCAAGTGATCTGCCCGCCTCAGCCTCCCAAAGTGCTAAAATTACAGGCGTGAACCACCTTACCCGGCCAAAGAGTAGTTATTTGTTTATTTGTTTTGAGACAGAGTCTCGCTCTGTCACTCAGGCTGGAGTGCAGTGGGGTGATCTCGGCTCA | TTATGTCTCATGATGGCCCACCCTGTGCCTGCTTCAGGGAATGACAGCCAGGAAAAGGGGCTCTTCTGTCTTCCCTTCCTATGTGGGTGGTGATGGGAAGAAAGGGGTGTGGCCCAAGAAAATGGAGTCCCTTGGGTGGCTTGGGCTACTACAGTATGAAGGGGACAAGGCTGGGGGGAGGGAACAATACCCGCTCAGCCACACCGGCATTGACTGTCTGGCCCCTGCGGTCCTCGTTGCCCTTGCCGTGCCAGGTGACCTCAGCTGTCTGCTCCCCATTGGGCCCAAACACTACCCAGGCATGATCCTCAGACAGGGCGAGGTGGACATCCCGGAGACCCAGGGCCTGGCAGGCCCCAACCACAGCAAAGGCCACACCGGAGCTGTCCAATTTGGTGCCTGTGGAAGGGGGAGGTAATGAAAGAGGGTCCTCTGTGCTTTAACATGGGGAAAGGGGGCCAGGTAGTGATGGGCCACACTCCCTCCCACTCCCTTTCCAAGCCTGTGACCCAACCTCAGATTCTCCTGCCCACTATCCCTCCATCCCTTCCCTCCCACGTGTTCAAAGACTCTCTCCCTGTTTACACCCTCTATGTCCAACAAGATACCTTTCTGGATATCCTGTAGCTGACCCAGCCTTTGGCCCTACCTCGTCTTTCTCTGCAACTCTATTATATATTCTATGGATTTAGGGATTCCATTTTACTGCACTTACTAGGTTAAAACAGGAATGGCAAAAACAGGACGCTGGCCAACACTCTCTGGCTATACACCCACCAACAAATAACCCTCATTTATCTCTGCACTCTTTTCCTGCTAAGCTGAGAAGCAGCCTCTGATTCCTTCTCAATATGGCACACCAGGATGGGATTGCCAGTCAACCGGGCTTGGTGCAAAGCTCTTTGCAAGCCCTGACTCTTAAGCCTTTTGAGGTCAAGCCCCTTCTCTGTCTCAAACATTTTTGACCAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCTCGTCTCTACTAAAAATCCAAAAAAAAATTAGCCAGGCATGGTGGCAGGCTCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGGCAGGAGAATGGCATGAAAGCAGGAGGCAGAGCTTGCAGTGAGCCGAGATTGCACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACGCCGTCTGAAAAAAAAAAAAAAATTTTCATAGGCCACCAGTTGCGGTGGCTCACACCTGTAATCCCAGCATTTGGGAGACTGAGGCGGGCAGATCACTTGAGCCCAAGAGTTCAAGACCAGTCTGGGCCACATAGTGAGACACCATCTCTACAAAAAAAATACAAAAAATTAACCAGCACCACGGTGCATGCCTGTACTCTCAGCTACTCAGGAGGCTGAGGTTGGAGGATCTCTGAGCCCAGGGAGACTGAGGCTGCAGTGAGCCATGATCACACCACTGCACTCCAGCCTGGGGGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAATCTTCATAGCCATTATTTTGTTTAACTGCCTCAAATGCAGCCCAATTTCATCTTCTTGCCCCCTAAATCTGCTGCCGCCCTCTGTGTCTCATGCTTAGAACTCCTGTAGCTGTTCAGTGGCAAGGGTGGGGGTGCTGAGGGGGCAGAGGTGAGGTTGATGATTTGGAGCCAAGTGATCAGGCTTCACTTCCAGCCCTGCCATGCCGTGTGTGACTTTGGCATATCATTTCCCCTCTCTGGGCTTCAGTTTCCCAACTGCAAAGAGGAAAATAACACCTGCCGAACCTCACAAGGCTTACAGTTCTTAAAAGGGTTCTGTAAACCATGGAGGGTTTTGAAGAAGTGGGTCATGGATAAGATTCCCACCTACTGGGCTCCAACCTGTGATGAAGCTGAAGAGGGACTGGATGTGGGCCCGATCCTTGAAGTAGGAGCGGCTGAGGCTGTTCCATATGACATCGGAGACCTTCACCAGCTCACGGCTGGAGACACCCCCTTCTCGAGGATAGAGGGACAGGTCGACGGCGCCTCGGATCTGGGCGGTGAAGCGGGCATAGAGGGCGGCGATGATAGACAGGTCGGCCACGGGAAAGTAGGTGAGGCCGCCAGGCGGGTCGGGGGCGGGGCTGGGCTGGAAGGTGAGCTCGGGAACGTTGGTAGGGATGACGCGGTTGACAGCCAGAAAATGCTCCACGAAGCCCAGCACCAAGGAAAGGAGCACCAGGTCCGGCTCCTCTCGGCCCAGCTCGGCAGCAAACAGGCGCACCACGTCGTCGATGGAGCGCAGCGGGAACAGCGTCTTCTGGGCGGCCTTCAGCCCCATGGCGGCGGGCGGTGGGCGGCGGCCTGCAAGGCAAGCCGGGGGAGGGAGGGTCGGGCAGGTTCGGCCGGGGAGCCTCCTCCCAGGGTCCGCTAAGGTTCCACCCGCCCCGACACACGCACAGCTCCCCTGCTTCCCCACCCTCTTCAGCCTCTGCTCACCGGCTTCCCCTCTTTTGTCGGTGAGACCCCTCAGCCGAGACTGCAGAGCCTTTTTGTCCCCCACAATTCCGGGACGCCCGGTACCCGATGGGGTGCGCCCCAAGCACCCCAATGAGGAGCCCCAATGGCCGCCCCGCCCCCTCTCTACGACTGTGCCCCCGGGGCTGTAAAGTCTGTCCAGAAAGCGCACCCAGGTCAAGCCCCCAAACCCCAAGGAGAGTCCTGGCCTCGGTCCCCCTCGCCCACCTCCGCGCTTACATCCCACACTAGGCACCGCGGCGCACGCCGCCCGGAGCCTGCTGGGACATGAAGTCCCGCCCCTAGGGTCGCACTACCCGCCGGGAAGTGGAGTCTGGGCCCACCCCTGCCCCGCTGAGCCTGGAAATAGTGGCGGGCCGGGCCGCTGCGCTGTGGCTTCTGGGATCTCTAGGTCCGCGGCTCCGGACACCTCCTTCCCGAGATACTCAGGGATTGGCCCTTCCCTTCAGGCCGACCAGGCAGGAAGCGTGCCCGCAGTGCCTTCTGGAAAATGTAGTCCGGGGGCACTACCTGCAGACTCGGGGTGGGAGGTCGCCGAGCTTCTGCCGGTTTTGCTGTCACGGGTCGGTCGGCAAGTTATGAGGAAAAAGATCAGGTTGCTTGATCCAGAAAAAATTAAAATAAAACAATATGAGAAAAACAGATACTTTTAAACACTGCCAGAGAGTAAATGTGTTCAGCCGCTTTAGCTGGGTATCAGTGTCTGTTAACATATAAAGATGCCTACTCTGTGTGCAGCACTCGTTTCCCACTTCCGCCCGCGAGATACTCTAACACGTGCTAAGAGTAGCTTTTGTTTGTTTGTTTTGAGACACGGTCTTTCTCTTTCGCCCAGGCTGGAATGCAGTGGCTCGATCTGGGCTCACTGCAGCCTCGACTTCACGGGCTCAAGCGATTCTCGTGCCTCAGCCTCCCGAGTAGCTGTGATCACAGGCGTGCGCCACCACTCCCGCCTAATTTTGTGTGTATGTGCATATACATAAATATATATACATATAACACACACACACACACACACACACACACATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGCAGAGACAGGGATTCCCAGCTACTTGGGAGGCTGAGGCGCGGGGAATCCCTTGAACCTGGGAGGCGGAGGCTTCAGTGAGCCAGAATCTTGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGATTCCGTCTTAAAAAAAAGTCCCAAGTAGCTGGGATTATAGGCGTCCGCCACCACACCCAGAAAACTTTTTGTATTTTAAGTAGAGATGGGGTTTCACCATGTTGGCCAGACTGGTCTCGAACCCCTAACCTCAAGTGATCTGCCCGCCTCAGCCTCCCAAAGTGCTAAAATTACAGGCGTGAACCACCTTACCCGGCCAAAGAGTAGTTATTTGTTTATTTGTTTTGAGACAGAGTCTCGCTCTGTCACTCAGGCTGGAGTGCAGTGGGGTGATCTCGGCTCANNN | pathogenic | 178,028 |
Is the genetic change at chromosome 11, position 64809759, within gene MEN1 (menin 1) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Multiple_endocrine_neoplasia,_type_1', 'likely other unspecified diseases'] | TGATGGCCCACCCTGTGCCTGCTTCAGGGAATGACAGCCAGGAAAAGGGGCTCTTCTGTCTTCCCTTCCTATGTGGGTGGTGATGGGAAGAAAGGGGTGTGGCCCAAGAAAATGGAGTCCCTTGGGTGGCTTGGGCTACTACAGTATGAAGGGGACAAGGCTGGGGGGAGGGAACAATACCCGCTCAGCCACACCGGCATTGACTGTCTGGCCCCTGCGGTCCTCGTTGCCCTTGCCGTGCCAGGTGACCTCAGCTGTCTGCTCCCCATTGGGCCCAAACACTACCCAGGCATGATCCTCAGACAGGGCGAGGTGGACATCCCGGAGACCCAGGGCCTGGCAGGCCCCAACCACAGCAAAGGCCACACCGGAGCTGTCCAATTTGGTGCCTGTGGAAGGGGGAGGTAATGAAAGAGGGTCCTCTGTGCTTTAACATGGGGAAAGGGGGCCAGGTAGTGATGGGCCACACTCCCTCCCACTCCCTTTCCAAGCCTGTGACCCAACCTCAGATTCTCCTGCCCACTATCCCTCCATCCCTTCCCTCCCACGTGTTCAAAGACTCTCTCCCTGTTTACACCCTCTATGTCCAACAAGATACCTTTCTGGATATCCTGTAGCTGACCCAGCCTTTGGCCCTACCTCGTCTTTCTCTGCAACTCTATTATATATTCTATGGATTTAGGGATTCCATTTTACTGCACTTACTAGGTTAAAACAGGAATGGCAAAAACAGGACGCTGGCCAACACTCTCTGGCTATACACCCACCAACAAATAACCCTCATTTATCTCTGCACTCTTTTCCTGCTAAGCTGAGAAGCAGCCTCTGATTCCTTCTCAATATGGCACACCAGGATGGGATTGCCAGTCAACCGGGCTTGGTGCAAAGCTCTTTGCAAGCCCTGACTCTTAAGCCTTTTGAGGTCAAGCCCCTTCTCTGTCTCAAACATTTTTGACCAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCTCGTCTCTACTAAAAATCCAAAAAAAAATTAGCCAGGCATGGTGGCAGGCTCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGGCAGGAGAATGGCATGAAAGCAGGAGGCAGAGCTTGCAGTGAGCCGAGATTGCACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACGCCGTCTGAAAAAAAAAAAAAAATTTTCATAGGCCACCAGTTGCGGTGGCTCACACCTGTAATCCCAGCATTTGGGAGACTGAGGCGGGCAGATCACTTGAGCCCAAGAGTTCAAGACCAGTCTGGGCCACATAGTGAGACACCATCTCTACAAAAAAAATACAAAAAATTAACCAGCACCACGGTGCATGCCTGTACTCTCAGCTACTCAGGAGGCTGAGGTTGGAGGATCTCTGAGCCCAGGGAGACTGAGGCTGCAGTGAGCCATGATCACACCACTGCACTCCAGCCTGGGGGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAATCTTCATAGCCATTATTTTGTTTAACTGCCTCAAATGCAGCCCAATTTCATCTTCTTGCCCCCTAAATCTGCTGCCGCCCTCTGTGTCTCATGCTTAGAACTCCTGTAGCTGTTCAGTGGCAAGGGTGGGGGTGCTGAGGGGGCAGAGGTGAGGTTGATGATTTGGAGCCAAGTGATCAGGCTTCACTTCCAGCCCTGCCATGCCGTGTGTGACTTTGGCATATCATTTCCCCTCTCTGGGCTTCAGTTTCCCAACTGCAAAGAGGAAAATAACACCTGCCGAACCTCACAAGGCTTACAGTTCTTAAAAGGGTTCTGTAAACCATGGAGGGTTTTGAAGAAGTGGGTCATGGATAAGATTCCCACCTACTGGGCTCCAACCTGTGATGAAGCTGAAGAGGGACTGGATGTGGGCCCGATCCTTGAAGTAGGAGCGGCTGAGGCTGTTCCATATGACATCGGAGACCTTCTTCACCAGCTCACGGCTGGAGACACCCCCTTCTCGAGGATAGAGGGACAGGTCGACGGCGCCTCGGATCTGGGCGGTGAAGCGGGCATAGAGGGCGGCGATGATAGACAGGTCGGCCACGGGAAAGTAGGTGAGGCCGCCAGGCGGGTCGGGGGCGGGGCTGGGCTGGAAGGTGAGCTCGGGAACGTTGGTAGGGATGACGCGGTTGACAGCCAGAAAATGCTCCACGAAGCCCAGCACCAAGGAAAGGAGCACCAGGTCCGGCTCCTCTCGGCCCAGCTCGGCAGCAAACAGGCGCACCACGTCGTCGATGGAGCGCAGCGGGAACAGCGTCTTCTGGGCGGCCTTCAGCCCCATGGCGGCGGGCGGTGGGCGGCGGCCTGCAAGGCAAGCCGGGGGAGGGAGGGTCGGGCAGGTTCGGCCGGGGAGCCTCCTCCCAGGGTCCGCTAAGGTTCCACCCGCCCCGACACACGCACAGCTCCCCTGCTTCCCCACCCTCTTCAGCCTCTGCTCACCGGCTTCCCCTCTTTTGTCGGTGAGACCCCTCAGCCGAGACTGCAGAGCCTTTTTGTCCCCCACAATTCCGGGACGCCCGGTACCCGATGGGGTGCGCCCCAAGCACCCCAATGAGGAGCCCCAATGGCCGCCCCGCCCCCTCTCTACGACTGTGCCCCCGGGGCTGTAAAGTCTGTCCAGAAAGCGCACCCAGGTCAAGCCCCCAAACCCCAAGGAGAGTCCTGGCCTCGGTCCCCCTCGCCCACCTCCGCGCTTACATCCCACACTAGGCACCGCGGCGCACGCCGCCCGGAGCCTGCTGGGACATGAAGTCCCGCCCCTAGGGTCGCACTACCCGCCGGGAAGTGGAGTCTGGGCCCACCCCTGCCCCGCTGAGCCTGGAAATAGTGGCGGGCCGGGCCGCTGCGCTGTGGCTTCTGGGATCTCTAGGTCCGCGGCTCCGGACACCTCCTTCCCGAGATACTCAGGGATTGGCCCTTCCCTTCAGGCCGACCAGGCAGGAAGCGTGCCCGCAGTGCCTTCTGGAAAATGTAGTCCGGGGGCACTACCTGCAGACTCGGGGTGGGAGGTCGCCGAGCTTCTGCCGGTTTTGCTGTCACGGGTCGGTCGGCAAGTTATGAGGAAAAAGATCAGGTTGCTTGATCCAGAAAAAATTAAAATAAAACAATATGAGAAAAACAGATACTTTTAAACACTGCCAGAGAGTAAATGTGTTCAGCCGCTTTAGCTGGGTATCAGTGTCTGTTAACATATAAAGATGCCTACTCTGTGTGCAGCACTCGTTTCCCACTTCCGCCCGCGAGATACTCTAACACGTGCTAAGAGTAGCTTTTGTTTGTTTGTTTTGAGACACGGTCTTTCTCTTTCGCCCAGGCTGGAATGCAGTGGCTCGATCTGGGCTCACTGCAGCCTCGACTTCACGGGCTCAAGCGATTCTCGTGCCTCAGCCTCCCGAGTAGCTGTGATCACAGGCGTGCGCCACCACTCCCGCCTAATTTTGTGTGTATGTGCATATACATAAATATATATACATATAACACACACACACACACACACACACACACATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGCAGAGACAGGGATTCCCAGCTACTTGGGAGGCTGAGGCGCGGGGAATCCCTTGAACCTGGGAGGCGGAGGCTTCAGTGAGCCAGAATCTTGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGATTCCGTCTTAAAAAAAAGTCCCAAGTAGCTGGGATTATAGGCGTCCGCCACCACACCCAGAAAACTTTTTGTATTTTAAGTAGAGATGGGGTTTCACCATGTTGGCCAGACTGGTCTCGAACCCCTAACCTCAAGTGATCTGCCCGCCTCAGCCTCCCAAAGTGCTAAAATTACAGGCGTGAACCACCTTACCCGGCCAAAGAGTAGTTATTTGTTTATTTGTTTTGAGACAGAGTCTCGCTCTGTCACTCAGGCTGGAGTGCAGTGGGGTGATCTCGGCTCACTGCAACCTC | TGATGGCCCACCCTGTGCCTGCTTCAGGGAATGACAGCCAGGAAAAGGGGCTCTTCTGTCTTCCCTTCCTATGTGGGTGGTGATGGGAAGAAAGGGGTGTGGCCCAAGAAAATGGAGTCCCTTGGGTGGCTTGGGCTACTACAGTATGAAGGGGACAAGGCTGGGGGGAGGGAACAATACCCGCTCAGCCACACCGGCATTGACTGTCTGGCCCCTGCGGTCCTCGTTGCCCTTGCCGTGCCAGGTGACCTCAGCTGTCTGCTCCCCATTGGGCCCAAACACTACCCAGGCATGATCCTCAGACAGGGCGAGGTGGACATCCCGGAGACCCAGGGCCTGGCAGGCCCCAACCACAGCAAAGGCCACACCGGAGCTGTCCAATTTGGTGCCTGTGGAAGGGGGAGGTAATGAAAGAGGGTCCTCTGTGCTTTAACATGGGGAAAGGGGGCCAGGTAGTGATGGGCCACACTCCCTCCCACTCCCTTTCCAAGCCTGTGACCCAACCTCAGATTCTCCTGCCCACTATCCCTCCATCCCTTCCCTCCCACGTGTTCAAAGACTCTCTCCCTGTTTACACCCTCTATGTCCAACAAGATACCTTTCTGGATATCCTGTAGCTGACCCAGCCTTTGGCCCTACCTCGTCTTTCTCTGCAACTCTATTATATATTCTATGGATTTAGGGATTCCATTTTACTGCACTTACTAGGTTAAAACAGGAATGGCAAAAACAGGACGCTGGCCAACACTCTCTGGCTATACACCCACCAACAAATAACCCTCATTTATCTCTGCACTCTTTTCCTGCTAAGCTGAGAAGCAGCCTCTGATTCCTTCTCAATATGGCACACCAGGATGGGATTGCCAGTCAACCGGGCTTGGTGCAAAGCTCTTTGCAAGCCCTGACTCTTAAGCCTTTTGAGGTCAAGCCCCTTCTCTGTCTCAAACATTTTTGACCAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCTCGTCTCTACTAAAAATCCAAAAAAAAATTAGCCAGGCATGGTGGCAGGCTCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGGCAGGAGAATGGCATGAAAGCAGGAGGCAGAGCTTGCAGTGAGCCGAGATTGCACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACGCCGTCTGAAAAAAAAAAAAAAATTTTCATAGGCCACCAGTTGCGGTGGCTCACACCTGTAATCCCAGCATTTGGGAGACTGAGGCGGGCAGATCACTTGAGCCCAAGAGTTCAAGACCAGTCTGGGCCACATAGTGAGACACCATCTCTACAAAAAAAATACAAAAAATTAACCAGCACCACGGTGCATGCCTGTACTCTCAGCTACTCAGGAGGCTGAGGTTGGAGGATCTCTGAGCCCAGGGAGACTGAGGCTGCAGTGAGCCATGATCACACCACTGCACTCCAGCCTGGGGGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAATCTTCATAGCCATTATTTTGTTTAACTGCCTCAAATGCAGCCCAATTTCATCTTCTTGCCCCCTAAATCTGCTGCCGCCCTCTGTGTCTCATGCTTAGAACTCCTGTAGCTGTTCAGTGGCAAGGGTGGGGGTGCTGAGGGGGCAGAGGTGAGGTTGATGATTTGGAGCCAAGTGATCAGGCTTCACTTCCAGCCCTGCCATGCCGTGTGTGACTTTGGCATATCATTTCCCCTCTCTGGGCTTCAGTTTCCCAACTGCAAAGAGGAAAATAACACCTGCCGAACCTCACAAGGCTTACAGTTCTTAAAAGGGTTCTGTAAACCATGGAGGGTTTTGAAGAAGTGGGTCATGGATAAGATTCCCACCTACTGGGCTCCAACCTGTGATGAAGCTGAAGAGGGACTGGATGTGGGCCCGATCCTTGAAGTAGGAGCGGCTGAGGCTGTTCCATATGACATCGGAGACCTTCTTCACCGCTCACGGCTGGAGACACCCCCTTCTCGAGGATAGAGGGACAGGTCGACGGCGCCTCGGATCTGGGCGGTGAAGCGGGCATAGAGGGCGGCGATGATAGACAGGTCGGCCACGGGAAAGTAGGTGAGGCCGCCAGGCGGGTCGGGGGCGGGGCTGGGCTGGAAGGTGAGCTCGGGAACGTTGGTAGGGATGACGCGGTTGACAGCCAGAAAATGCTCCACGAAGCCCAGCACCAAGGAAAGGAGCACCAGGTCCGGCTCCTCTCGGCCCAGCTCGGCAGCAAACAGGCGCACCACGTCGTCGATGGAGCGCAGCGGGAACAGCGTCTTCTGGGCGGCCTTCAGCCCCATGGCGGCGGGCGGTGGGCGGCGGCCTGCAAGGCAAGCCGGGGGAGGGAGGGTCGGGCAGGTTCGGCCGGGGAGCCTCCTCCCAGGGTCCGCTAAGGTTCCACCCGCCCCGACACACGCACAGCTCCCCTGCTTCCCCACCCTCTTCAGCCTCTGCTCACCGGCTTCCCCTCTTTTGTCGGTGAGACCCCTCAGCCGAGACTGCAGAGCCTTTTTGTCCCCCACAATTCCGGGACGCCCGGTACCCGATGGGGTGCGCCCCAAGCACCCCAATGAGGAGCCCCAATGGCCGCCCCGCCCCCTCTCTACGACTGTGCCCCCGGGGCTGTAAAGTCTGTCCAGAAAGCGCACCCAGGTCAAGCCCCCAAACCCCAAGGAGAGTCCTGGCCTCGGTCCCCCTCGCCCACCTCCGCGCTTACATCCCACACTAGGCACCGCGGCGCACGCCGCCCGGAGCCTGCTGGGACATGAAGTCCCGCCCCTAGGGTCGCACTACCCGCCGGGAAGTGGAGTCTGGGCCCACCCCTGCCCCGCTGAGCCTGGAAATAGTGGCGGGCCGGGCCGCTGCGCTGTGGCTTCTGGGATCTCTAGGTCCGCGGCTCCGGACACCTCCTTCCCGAGATACTCAGGGATTGGCCCTTCCCTTCAGGCCGACCAGGCAGGAAGCGTGCCCGCAGTGCCTTCTGGAAAATGTAGTCCGGGGGCACTACCTGCAGACTCGGGGTGGGAGGTCGCCGAGCTTCTGCCGGTTTTGCTGTCACGGGTCGGTCGGCAAGTTATGAGGAAAAAGATCAGGTTGCTTGATCCAGAAAAAATTAAAATAAAACAATATGAGAAAAACAGATACTTTTAAACACTGCCAGAGAGTAAATGTGTTCAGCCGCTTTAGCTGGGTATCAGTGTCTGTTAACATATAAAGATGCCTACTCTGTGTGCAGCACTCGTTTCCCACTTCCGCCCGCGAGATACTCTAACACGTGCTAAGAGTAGCTTTTGTTTGTTTGTTTTGAGACACGGTCTTTCTCTTTCGCCCAGGCTGGAATGCAGTGGCTCGATCTGGGCTCACTGCAGCCTCGACTTCACGGGCTCAAGCGATTCTCGTGCCTCAGCCTCCCGAGTAGCTGTGATCACAGGCGTGCGCCACCACTCCCGCCTAATTTTGTGTGTATGTGCATATACATAAATATATATACATATAACACACACACACACACACACACACACACATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGCAGAGACAGGGATTCCCAGCTACTTGGGAGGCTGAGGCGCGGGGAATCCCTTGAACCTGGGAGGCGGAGGCTTCAGTGAGCCAGAATCTTGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGATTCCGTCTTAAAAAAAAGTCCCAAGTAGCTGGGATTATAGGCGTCCGCCACCACACCCAGAAAACTTTTTGTATTTTAAGTAGAGATGGGGTTTCACCATGTTGGCCAGACTGGTCTCGAACCCCTAACCTCAAGTGATCTGCCCGCCTCAGCCTCCCAAAGTGCTAAAATTACAGGCGTGAACCACCTTACCCGGCCAAAGAGTAGTTATTTGTTTATTTGTTTTGAGACAGAGTCTCGCTCTGTCACTCAGGCTGGAGTGCAGTGGGGTGATCTCGGCTCACTGCAACCTCN | pathogenic | 178,031 |
A genetic variant on chromosome 11, position 64809766, affects the gene MEN1 (menin 1). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Multiple_endocrine_neoplasia,_type_1'] | CCACCCTGTGCCTGCTTCAGGGAATGACAGCCAGGAAAAGGGGCTCTTCTGTCTTCCCTTCCTATGTGGGTGGTGATGGGAAGAAAGGGGTGTGGCCCAAGAAAATGGAGTCCCTTGGGTGGCTTGGGCTACTACAGTATGAAGGGGACAAGGCTGGGGGGAGGGAACAATACCCGCTCAGCCACACCGGCATTGACTGTCTGGCCCCTGCGGTCCTCGTTGCCCTTGCCGTGCCAGGTGACCTCAGCTGTCTGCTCCCCATTGGGCCCAAACACTACCCAGGCATGATCCTCAGACAGGGCGAGGTGGACATCCCGGAGACCCAGGGCCTGGCAGGCCCCAACCACAGCAAAGGCCACACCGGAGCTGTCCAATTTGGTGCCTGTGGAAGGGGGAGGTAATGAAAGAGGGTCCTCTGTGCTTTAACATGGGGAAAGGGGGCCAGGTAGTGATGGGCCACACTCCCTCCCACTCCCTTTCCAAGCCTGTGACCCAACCTCAGATTCTCCTGCCCACTATCCCTCCATCCCTTCCCTCCCACGTGTTCAAAGACTCTCTCCCTGTTTACACCCTCTATGTCCAACAAGATACCTTTCTGGATATCCTGTAGCTGACCCAGCCTTTGGCCCTACCTCGTCTTTCTCTGCAACTCTATTATATATTCTATGGATTTAGGGATTCCATTTTACTGCACTTACTAGGTTAAAACAGGAATGGCAAAAACAGGACGCTGGCCAACACTCTCTGGCTATACACCCACCAACAAATAACCCTCATTTATCTCTGCACTCTTTTCCTGCTAAGCTGAGAAGCAGCCTCTGATTCCTTCTCAATATGGCACACCAGGATGGGATTGCCAGTCAACCGGGCTTGGTGCAAAGCTCTTTGCAAGCCCTGACTCTTAAGCCTTTTGAGGTCAAGCCCCTTCTCTGTCTCAAACATTTTTGACCAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCTCGTCTCTACTAAAAATCCAAAAAAAAATTAGCCAGGCATGGTGGCAGGCTCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGGCAGGAGAATGGCATGAAAGCAGGAGGCAGAGCTTGCAGTGAGCCGAGATTGCACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACGCCGTCTGAAAAAAAAAAAAAAATTTTCATAGGCCACCAGTTGCGGTGGCTCACACCTGTAATCCCAGCATTTGGGAGACTGAGGCGGGCAGATCACTTGAGCCCAAGAGTTCAAGACCAGTCTGGGCCACATAGTGAGACACCATCTCTACAAAAAAAATACAAAAAATTAACCAGCACCACGGTGCATGCCTGTACTCTCAGCTACTCAGGAGGCTGAGGTTGGAGGATCTCTGAGCCCAGGGAGACTGAGGCTGCAGTGAGCCATGATCACACCACTGCACTCCAGCCTGGGGGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAATCTTCATAGCCATTATTTTGTTTAACTGCCTCAAATGCAGCCCAATTTCATCTTCTTGCCCCCTAAATCTGCTGCCGCCCTCTGTGTCTCATGCTTAGAACTCCTGTAGCTGTTCAGTGGCAAGGGTGGGGGTGCTGAGGGGGCAGAGGTGAGGTTGATGATTTGGAGCCAAGTGATCAGGCTTCACTTCCAGCCCTGCCATGCCGTGTGTGACTTTGGCATATCATTTCCCCTCTCTGGGCTTCAGTTTCCCAACTGCAAAGAGGAAAATAACACCTGCCGAACCTCACAAGGCTTACAGTTCTTAAAAGGGTTCTGTAAACCATGGAGGGTTTTGAAGAAGTGGGTCATGGATAAGATTCCCACCTACTGGGCTCCAACCTGTGATGAAGCTGAAGAGGGACTGGATGTGGGCCCGATCCTTGAAGTAGGAGCGGCTGAGGCTGTTCCATATGACATCGGAGACCTTCTTCACCAGCTCACGGCTGGAGACACCCCCTTCTCGAGGATAGAGGGACAGGTCGACGGCGCCTCGGATCTGGGCGGTGAAGCGGGCATAGAGGGCGGCGATGATAGACAGGTCGGCCACGGGAAAGTAGGTGAGGCCGCCAGGCGGGTCGGGGGCGGGGCTGGGCTGGAAGGTGAGCTCGGGAACGTTGGTAGGGATGACGCGGTTGACAGCCAGAAAATGCTCCACGAAGCCCAGCACCAAGGAAAGGAGCACCAGGTCCGGCTCCTCTCGGCCCAGCTCGGCAGCAAACAGGCGCACCACGTCGTCGATGGAGCGCAGCGGGAACAGCGTCTTCTGGGCGGCCTTCAGCCCCATGGCGGCGGGCGGTGGGCGGCGGCCTGCAAGGCAAGCCGGGGGAGGGAGGGTCGGGCAGGTTCGGCCGGGGAGCCTCCTCCCAGGGTCCGCTAAGGTTCCACCCGCCCCGACACACGCACAGCTCCCCTGCTTCCCCACCCTCTTCAGCCTCTGCTCACCGGCTTCCCCTCTTTTGTCGGTGAGACCCCTCAGCCGAGACTGCAGAGCCTTTTTGTCCCCCACAATTCCGGGACGCCCGGTACCCGATGGGGTGCGCCCCAAGCACCCCAATGAGGAGCCCCAATGGCCGCCCCGCCCCCTCTCTACGACTGTGCCCCCGGGGCTGTAAAGTCTGTCCAGAAAGCGCACCCAGGTCAAGCCCCCAAACCCCAAGGAGAGTCCTGGCCTCGGTCCCCCTCGCCCACCTCCGCGCTTACATCCCACACTAGGCACCGCGGCGCACGCCGCCCGGAGCCTGCTGGGACATGAAGTCCCGCCCCTAGGGTCGCACTACCCGCCGGGAAGTGGAGTCTGGGCCCACCCCTGCCCCGCTGAGCCTGGAAATAGTGGCGGGCCGGGCCGCTGCGCTGTGGCTTCTGGGATCTCTAGGTCCGCGGCTCCGGACACCTCCTTCCCGAGATACTCAGGGATTGGCCCTTCCCTTCAGGCCGACCAGGCAGGAAGCGTGCCCGCAGTGCCTTCTGGAAAATGTAGTCCGGGGGCACTACCTGCAGACTCGGGGTGGGAGGTCGCCGAGCTTCTGCCGGTTTTGCTGTCACGGGTCGGTCGGCAAGTTATGAGGAAAAAGATCAGGTTGCTTGATCCAGAAAAAATTAAAATAAAACAATATGAGAAAAACAGATACTTTTAAACACTGCCAGAGAGTAAATGTGTTCAGCCGCTTTAGCTGGGTATCAGTGTCTGTTAACATATAAAGATGCCTACTCTGTGTGCAGCACTCGTTTCCCACTTCCGCCCGCGAGATACTCTAACACGTGCTAAGAGTAGCTTTTGTTTGTTTGTTTTGAGACACGGTCTTTCTCTTTCGCCCAGGCTGGAATGCAGTGGCTCGATCTGGGCTCACTGCAGCCTCGACTTCACGGGCTCAAGCGATTCTCGTGCCTCAGCCTCCCGAGTAGCTGTGATCACAGGCGTGCGCCACCACTCCCGCCTAATTTTGTGTGTATGTGCATATACATAAATATATATACATATAACACACACACACACACACACACACACACATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGCAGAGACAGGGATTCCCAGCTACTTGGGAGGCTGAGGCGCGGGGAATCCCTTGAACCTGGGAGGCGGAGGCTTCAGTGAGCCAGAATCTTGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGATTCCGTCTTAAAAAAAAGTCCCAAGTAGCTGGGATTATAGGCGTCCGCCACCACACCCAGAAAACTTTTTGTATTTTAAGTAGAGATGGGGTTTCACCATGTTGGCCAGACTGGTCTCGAACCCCTAACCTCAAGTGATCTGCCCGCCTCAGCCTCCCAAAGTGCTAAAATTACAGGCGTGAACCACCTTACCCGGCCAAAGAGTAGTTATTTGTTTATTTGTTTTGAGACAGAGTCTCGCTCTGTCACTCAGGCTGGAGTGCAGTGGGGTGATCTCGGCTCACTGCAACCTCTGCCTCC | CCACCCTGTGCCTGCTTCAGGGAATGACAGCCAGGAAAAGGGGCTCTTCTGTCTTCCCTTCCTATGTGGGTGGTGATGGGAAGAAAGGGGTGTGGCCCAAGAAAATGGAGTCCCTTGGGTGGCTTGGGCTACTACAGTATGAAGGGGACAAGGCTGGGGGGAGGGAACAATACCCGCTCAGCCACACCGGCATTGACTGTCTGGCCCCTGCGGTCCTCGTTGCCCTTGCCGTGCCAGGTGACCTCAGCTGTCTGCTCCCCATTGGGCCCAAACACTACCCAGGCATGATCCTCAGACAGGGCGAGGTGGACATCCCGGAGACCCAGGGCCTGGCAGGCCCCAACCACAGCAAAGGCCACACCGGAGCTGTCCAATTTGGTGCCTGTGGAAGGGGGAGGTAATGAAAGAGGGTCCTCTGTGCTTTAACATGGGGAAAGGGGGCCAGGTAGTGATGGGCCACACTCCCTCCCACTCCCTTTCCAAGCCTGTGACCCAACCTCAGATTCTCCTGCCCACTATCCCTCCATCCCTTCCCTCCCACGTGTTCAAAGACTCTCTCCCTGTTTACACCCTCTATGTCCAACAAGATACCTTTCTGGATATCCTGTAGCTGACCCAGCCTTTGGCCCTACCTCGTCTTTCTCTGCAACTCTATTATATATTCTATGGATTTAGGGATTCCATTTTACTGCACTTACTAGGTTAAAACAGGAATGGCAAAAACAGGACGCTGGCCAACACTCTCTGGCTATACACCCACCAACAAATAACCCTCATTTATCTCTGCACTCTTTTCCTGCTAAGCTGAGAAGCAGCCTCTGATTCCTTCTCAATATGGCACACCAGGATGGGATTGCCAGTCAACCGGGCTTGGTGCAAAGCTCTTTGCAAGCCCTGACTCTTAAGCCTTTTGAGGTCAAGCCCCTTCTCTGTCTCAAACATTTTTGACCAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCTCGTCTCTACTAAAAATCCAAAAAAAAATTAGCCAGGCATGGTGGCAGGCTCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGGCAGGAGAATGGCATGAAAGCAGGAGGCAGAGCTTGCAGTGAGCCGAGATTGCACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACGCCGTCTGAAAAAAAAAAAAAAATTTTCATAGGCCACCAGTTGCGGTGGCTCACACCTGTAATCCCAGCATTTGGGAGACTGAGGCGGGCAGATCACTTGAGCCCAAGAGTTCAAGACCAGTCTGGGCCACATAGTGAGACACCATCTCTACAAAAAAAATACAAAAAATTAACCAGCACCACGGTGCATGCCTGTACTCTCAGCTACTCAGGAGGCTGAGGTTGGAGGATCTCTGAGCCCAGGGAGACTGAGGCTGCAGTGAGCCATGATCACACCACTGCACTCCAGCCTGGGGGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAATCTTCATAGCCATTATTTTGTTTAACTGCCTCAAATGCAGCCCAATTTCATCTTCTTGCCCCCTAAATCTGCTGCCGCCCTCTGTGTCTCATGCTTAGAACTCCTGTAGCTGTTCAGTGGCAAGGGTGGGGGTGCTGAGGGGGCAGAGGTGAGGTTGATGATTTGGAGCCAAGTGATCAGGCTTCACTTCCAGCCCTGCCATGCCGTGTGTGACTTTGGCATATCATTTCCCCTCTCTGGGCTTCAGTTTCCCAACTGCAAAGAGGAAAATAACACCTGCCGAACCTCACAAGGCTTACAGTTCTTAAAAGGGTTCTGTAAACCATGGAGGGTTTTGAAGAAGTGGGTCATGGATAAGATTCCCACCTACTGGGCTCCAACCTGTGATGAAGCTGAAGAGGGACTGGATGTGGGCCCGATCCTTGAAGTAGGAGCGGCTGAGGCTGTTCCATATGACATCGGAGACCTTCTTCACCAGCTCACGCTGGAGACACCCCCTTCTCGAGGATAGAGGGACAGGTCGACGGCGCCTCGGATCTGGGCGGTGAAGCGGGCATAGAGGGCGGCGATGATAGACAGGTCGGCCACGGGAAAGTAGGTGAGGCCGCCAGGCGGGTCGGGGGCGGGGCTGGGCTGGAAGGTGAGCTCGGGAACGTTGGTAGGGATGACGCGGTTGACAGCCAGAAAATGCTCCACGAAGCCCAGCACCAAGGAAAGGAGCACCAGGTCCGGCTCCTCTCGGCCCAGCTCGGCAGCAAACAGGCGCACCACGTCGTCGATGGAGCGCAGCGGGAACAGCGTCTTCTGGGCGGCCTTCAGCCCCATGGCGGCGGGCGGTGGGCGGCGGCCTGCAAGGCAAGCCGGGGGAGGGAGGGTCGGGCAGGTTCGGCCGGGGAGCCTCCTCCCAGGGTCCGCTAAGGTTCCACCCGCCCCGACACACGCACAGCTCCCCTGCTTCCCCACCCTCTTCAGCCTCTGCTCACCGGCTTCCCCTCTTTTGTCGGTGAGACCCCTCAGCCGAGACTGCAGAGCCTTTTTGTCCCCCACAATTCCGGGACGCCCGGTACCCGATGGGGTGCGCCCCAAGCACCCCAATGAGGAGCCCCAATGGCCGCCCCGCCCCCTCTCTACGACTGTGCCCCCGGGGCTGTAAAGTCTGTCCAGAAAGCGCACCCAGGTCAAGCCCCCAAACCCCAAGGAGAGTCCTGGCCTCGGTCCCCCTCGCCCACCTCCGCGCTTACATCCCACACTAGGCACCGCGGCGCACGCCGCCCGGAGCCTGCTGGGACATGAAGTCCCGCCCCTAGGGTCGCACTACCCGCCGGGAAGTGGAGTCTGGGCCCACCCCTGCCCCGCTGAGCCTGGAAATAGTGGCGGGCCGGGCCGCTGCGCTGTGGCTTCTGGGATCTCTAGGTCCGCGGCTCCGGACACCTCCTTCCCGAGATACTCAGGGATTGGCCCTTCCCTTCAGGCCGACCAGGCAGGAAGCGTGCCCGCAGTGCCTTCTGGAAAATGTAGTCCGGGGGCACTACCTGCAGACTCGGGGTGGGAGGTCGCCGAGCTTCTGCCGGTTTTGCTGTCACGGGTCGGTCGGCAAGTTATGAGGAAAAAGATCAGGTTGCTTGATCCAGAAAAAATTAAAATAAAACAATATGAGAAAAACAGATACTTTTAAACACTGCCAGAGAGTAAATGTGTTCAGCCGCTTTAGCTGGGTATCAGTGTCTGTTAACATATAAAGATGCCTACTCTGTGTGCAGCACTCGTTTCCCACTTCCGCCCGCGAGATACTCTAACACGTGCTAAGAGTAGCTTTTGTTTGTTTGTTTTGAGACACGGTCTTTCTCTTTCGCCCAGGCTGGAATGCAGTGGCTCGATCTGGGCTCACTGCAGCCTCGACTTCACGGGCTCAAGCGATTCTCGTGCCTCAGCCTCCCGAGTAGCTGTGATCACAGGCGTGCGCCACCACTCCCGCCTAATTTTGTGTGTATGTGCATATACATAAATATATATACATATAACACACACACACACACACACACACACACATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGCAGAGACAGGGATTCCCAGCTACTTGGGAGGCTGAGGCGCGGGGAATCCCTTGAACCTGGGAGGCGGAGGCTTCAGTGAGCCAGAATCTTGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGATTCCGTCTTAAAAAAAAGTCCCAAGTAGCTGGGATTATAGGCGTCCGCCACCACACCCAGAAAACTTTTTGTATTTTAAGTAGAGATGGGGTTTCACCATGTTGGCCAGACTGGTCTCGAACCCCTAACCTCAAGTGATCTGCCCGCCTCAGCCTCCCAAAGTGCTAAAATTACAGGCGTGAACCACCTTACCCGGCCAAAGAGTAGTTATTTGTTTATTTGTTTTGAGACAGAGTCTCGCTCTGTCACTCAGGCTGGAGTGCAGTGGGGTGATCTCGGCTCACTGCAACCTCTGCCTCCN | pathogenic | 178,035 |
Chromosome 11, position 64809769, gene MEN1 (menin 1): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Multiple_endocrine_neoplasia,_type_1'] | CCCTGTGCCTGCTTCAGGGAATGACAGCCAGGAAAAGGGGCTCTTCTGTCTTCCCTTCCTATGTGGGTGGTGATGGGAAGAAAGGGGTGTGGCCCAAGAAAATGGAGTCCCTTGGGTGGCTTGGGCTACTACAGTATGAAGGGGACAAGGCTGGGGGGAGGGAACAATACCCGCTCAGCCACACCGGCATTGACTGTCTGGCCCCTGCGGTCCTCGTTGCCCTTGCCGTGCCAGGTGACCTCAGCTGTCTGCTCCCCATTGGGCCCAAACACTACCCAGGCATGATCCTCAGACAGGGCGAGGTGGACATCCCGGAGACCCAGGGCCTGGCAGGCCCCAACCACAGCAAAGGCCACACCGGAGCTGTCCAATTTGGTGCCTGTGGAAGGGGGAGGTAATGAAAGAGGGTCCTCTGTGCTTTAACATGGGGAAAGGGGGCCAGGTAGTGATGGGCCACACTCCCTCCCACTCCCTTTCCAAGCCTGTGACCCAACCTCAGATTCTCCTGCCCACTATCCCTCCATCCCTTCCCTCCCACGTGTTCAAAGACTCTCTCCCTGTTTACACCCTCTATGTCCAACAAGATACCTTTCTGGATATCCTGTAGCTGACCCAGCCTTTGGCCCTACCTCGTCTTTCTCTGCAACTCTATTATATATTCTATGGATTTAGGGATTCCATTTTACTGCACTTACTAGGTTAAAACAGGAATGGCAAAAACAGGACGCTGGCCAACACTCTCTGGCTATACACCCACCAACAAATAACCCTCATTTATCTCTGCACTCTTTTCCTGCTAAGCTGAGAAGCAGCCTCTGATTCCTTCTCAATATGGCACACCAGGATGGGATTGCCAGTCAACCGGGCTTGGTGCAAAGCTCTTTGCAAGCCCTGACTCTTAAGCCTTTTGAGGTCAAGCCCCTTCTCTGTCTCAAACATTTTTGACCAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCTCGTCTCTACTAAAAATCCAAAAAAAAATTAGCCAGGCATGGTGGCAGGCTCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGGCAGGAGAATGGCATGAAAGCAGGAGGCAGAGCTTGCAGTGAGCCGAGATTGCACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACGCCGTCTGAAAAAAAAAAAAAAATTTTCATAGGCCACCAGTTGCGGTGGCTCACACCTGTAATCCCAGCATTTGGGAGACTGAGGCGGGCAGATCACTTGAGCCCAAGAGTTCAAGACCAGTCTGGGCCACATAGTGAGACACCATCTCTACAAAAAAAATACAAAAAATTAACCAGCACCACGGTGCATGCCTGTACTCTCAGCTACTCAGGAGGCTGAGGTTGGAGGATCTCTGAGCCCAGGGAGACTGAGGCTGCAGTGAGCCATGATCACACCACTGCACTCCAGCCTGGGGGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAATCTTCATAGCCATTATTTTGTTTAACTGCCTCAAATGCAGCCCAATTTCATCTTCTTGCCCCCTAAATCTGCTGCCGCCCTCTGTGTCTCATGCTTAGAACTCCTGTAGCTGTTCAGTGGCAAGGGTGGGGGTGCTGAGGGGGCAGAGGTGAGGTTGATGATTTGGAGCCAAGTGATCAGGCTTCACTTCCAGCCCTGCCATGCCGTGTGTGACTTTGGCATATCATTTCCCCTCTCTGGGCTTCAGTTTCCCAACTGCAAAGAGGAAAATAACACCTGCCGAACCTCACAAGGCTTACAGTTCTTAAAAGGGTTCTGTAAACCATGGAGGGTTTTGAAGAAGTGGGTCATGGATAAGATTCCCACCTACTGGGCTCCAACCTGTGATGAAGCTGAAGAGGGACTGGATGTGGGCCCGATCCTTGAAGTAGGAGCGGCTGAGGCTGTTCCATATGACATCGGAGACCTTCTTCACCAGCTCACGGCTGGAGACACCCCCTTCTCGAGGATAGAGGGACAGGTCGACGGCGCCTCGGATCTGGGCGGTGAAGCGGGCATAGAGGGCGGCGATGATAGACAGGTCGGCCACGGGAAAGTAGGTGAGGCCGCCAGGCGGGTCGGGGGCGGGGCTGGGCTGGAAGGTGAGCTCGGGAACGTTGGTAGGGATGACGCGGTTGACAGCCAGAAAATGCTCCACGAAGCCCAGCACCAAGGAAAGGAGCACCAGGTCCGGCTCCTCTCGGCCCAGCTCGGCAGCAAACAGGCGCACCACGTCGTCGATGGAGCGCAGCGGGAACAGCGTCTTCTGGGCGGCCTTCAGCCCCATGGCGGCGGGCGGTGGGCGGCGGCCTGCAAGGCAAGCCGGGGGAGGGAGGGTCGGGCAGGTTCGGCCGGGGAGCCTCCTCCCAGGGTCCGCTAAGGTTCCACCCGCCCCGACACACGCACAGCTCCCCTGCTTCCCCACCCTCTTCAGCCTCTGCTCACCGGCTTCCCCTCTTTTGTCGGTGAGACCCCTCAGCCGAGACTGCAGAGCCTTTTTGTCCCCCACAATTCCGGGACGCCCGGTACCCGATGGGGTGCGCCCCAAGCACCCCAATGAGGAGCCCCAATGGCCGCCCCGCCCCCTCTCTACGACTGTGCCCCCGGGGCTGTAAAGTCTGTCCAGAAAGCGCACCCAGGTCAAGCCCCCAAACCCCAAGGAGAGTCCTGGCCTCGGTCCCCCTCGCCCACCTCCGCGCTTACATCCCACACTAGGCACCGCGGCGCACGCCGCCCGGAGCCTGCTGGGACATGAAGTCCCGCCCCTAGGGTCGCACTACCCGCCGGGAAGTGGAGTCTGGGCCCACCCCTGCCCCGCTGAGCCTGGAAATAGTGGCGGGCCGGGCCGCTGCGCTGTGGCTTCTGGGATCTCTAGGTCCGCGGCTCCGGACACCTCCTTCCCGAGATACTCAGGGATTGGCCCTTCCCTTCAGGCCGACCAGGCAGGAAGCGTGCCCGCAGTGCCTTCTGGAAAATGTAGTCCGGGGGCACTACCTGCAGACTCGGGGTGGGAGGTCGCCGAGCTTCTGCCGGTTTTGCTGTCACGGGTCGGTCGGCAAGTTATGAGGAAAAAGATCAGGTTGCTTGATCCAGAAAAAATTAAAATAAAACAATATGAGAAAAACAGATACTTTTAAACACTGCCAGAGAGTAAATGTGTTCAGCCGCTTTAGCTGGGTATCAGTGTCTGTTAACATATAAAGATGCCTACTCTGTGTGCAGCACTCGTTTCCCACTTCCGCCCGCGAGATACTCTAACACGTGCTAAGAGTAGCTTTTGTTTGTTTGTTTTGAGACACGGTCTTTCTCTTTCGCCCAGGCTGGAATGCAGTGGCTCGATCTGGGCTCACTGCAGCCTCGACTTCACGGGCTCAAGCGATTCTCGTGCCTCAGCCTCCCGAGTAGCTGTGATCACAGGCGTGCGCCACCACTCCCGCCTAATTTTGTGTGTATGTGCATATACATAAATATATATACATATAACACACACACACACACACACACACACACATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGCAGAGACAGGGATTCCCAGCTACTTGGGAGGCTGAGGCGCGGGGAATCCCTTGAACCTGGGAGGCGGAGGCTTCAGTGAGCCAGAATCTTGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGATTCCGTCTTAAAAAAAAGTCCCAAGTAGCTGGGATTATAGGCGTCCGCCACCACACCCAGAAAACTTTTTGTATTTTAAGTAGAGATGGGGTTTCACCATGTTGGCCAGACTGGTCTCGAACCCCTAACCTCAAGTGATCTGCCCGCCTCAGCCTCCCAAAGTGCTAAAATTACAGGCGTGAACCACCTTACCCGGCCAAAGAGTAGTTATTTGTTTATTTGTTTTGAGACAGAGTCTCGCTCTGTCACTCAGGCTGGAGTGCAGTGGGGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAG | CCCTGTGCCTGCTTCAGGGAATGACAGCCAGGAAAAGGGGCTCTTCTGTCTTCCCTTCCTATGTGGGTGGTGATGGGAAGAAAGGGGTGTGGCCCAAGAAAATGGAGTCCCTTGGGTGGCTTGGGCTACTACAGTATGAAGGGGACAAGGCTGGGGGGAGGGAACAATACCCGCTCAGCCACACCGGCATTGACTGTCTGGCCCCTGCGGTCCTCGTTGCCCTTGCCGTGCCAGGTGACCTCAGCTGTCTGCTCCCCATTGGGCCCAAACACTACCCAGGCATGATCCTCAGACAGGGCGAGGTGGACATCCCGGAGACCCAGGGCCTGGCAGGCCCCAACCACAGCAAAGGCCACACCGGAGCTGTCCAATTTGGTGCCTGTGGAAGGGGGAGGTAATGAAAGAGGGTCCTCTGTGCTTTAACATGGGGAAAGGGGGCCAGGTAGTGATGGGCCACACTCCCTCCCACTCCCTTTCCAAGCCTGTGACCCAACCTCAGATTCTCCTGCCCACTATCCCTCCATCCCTTCCCTCCCACGTGTTCAAAGACTCTCTCCCTGTTTACACCCTCTATGTCCAACAAGATACCTTTCTGGATATCCTGTAGCTGACCCAGCCTTTGGCCCTACCTCGTCTTTCTCTGCAACTCTATTATATATTCTATGGATTTAGGGATTCCATTTTACTGCACTTACTAGGTTAAAACAGGAATGGCAAAAACAGGACGCTGGCCAACACTCTCTGGCTATACACCCACCAACAAATAACCCTCATTTATCTCTGCACTCTTTTCCTGCTAAGCTGAGAAGCAGCCTCTGATTCCTTCTCAATATGGCACACCAGGATGGGATTGCCAGTCAACCGGGCTTGGTGCAAAGCTCTTTGCAAGCCCTGACTCTTAAGCCTTTTGAGGTCAAGCCCCTTCTCTGTCTCAAACATTTTTGACCAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCTCGTCTCTACTAAAAATCCAAAAAAAAATTAGCCAGGCATGGTGGCAGGCTCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGGCAGGAGAATGGCATGAAAGCAGGAGGCAGAGCTTGCAGTGAGCCGAGATTGCACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACGCCGTCTGAAAAAAAAAAAAAAATTTTCATAGGCCACCAGTTGCGGTGGCTCACACCTGTAATCCCAGCATTTGGGAGACTGAGGCGGGCAGATCACTTGAGCCCAAGAGTTCAAGACCAGTCTGGGCCACATAGTGAGACACCATCTCTACAAAAAAAATACAAAAAATTAACCAGCACCACGGTGCATGCCTGTACTCTCAGCTACTCAGGAGGCTGAGGTTGGAGGATCTCTGAGCCCAGGGAGACTGAGGCTGCAGTGAGCCATGATCACACCACTGCACTCCAGCCTGGGGGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAATCTTCATAGCCATTATTTTGTTTAACTGCCTCAAATGCAGCCCAATTTCATCTTCTTGCCCCCTAAATCTGCTGCCGCCCTCTGTGTCTCATGCTTAGAACTCCTGTAGCTGTTCAGTGGCAAGGGTGGGGGTGCTGAGGGGGCAGAGGTGAGGTTGATGATTTGGAGCCAAGTGATCAGGCTTCACTTCCAGCCCTGCCATGCCGTGTGTGACTTTGGCATATCATTTCCCCTCTCTGGGCTTCAGTTTCCCAACTGCAAAGAGGAAAATAACACCTGCCGAACCTCACAAGGCTTACAGTTCTTAAAAGGGTTCTGTAAACCATGGAGGGTTTTGAAGAAGTGGGTCATGGATAAGATTCCCACCTACTGGGCTCCAACCTGTGATGAAGCTGAAGAGGGACTGGATGTGGGCCCGATCCTTGAAGTAGGAGCGGCTGAGGCTGTTCCATATGACATCGGAGACCTTCTTCACCAGCTCACGGCTTGGAGACACCCCCTTCTCGAGGATAGAGGGACAGGTCGACGGCGCCTCGGATCTGGGCGGTGAAGCGGGCATAGAGGGCGGCGATGATAGACAGGTCGGCCACGGGAAAGTAGGTGAGGCCGCCAGGCGGGTCGGGGGCGGGGCTGGGCTGGAAGGTGAGCTCGGGAACGTTGGTAGGGATGACGCGGTTGACAGCCAGAAAATGCTCCACGAAGCCCAGCACCAAGGAAAGGAGCACCAGGTCCGGCTCCTCTCGGCCCAGCTCGGCAGCAAACAGGCGCACCACGTCGTCGATGGAGCGCAGCGGGAACAGCGTCTTCTGGGCGGCCTTCAGCCCCATGGCGGCGGGCGGTGGGCGGCGGCCTGCAAGGCAAGCCGGGGGAGGGAGGGTCGGGCAGGTTCGGCCGGGGAGCCTCCTCCCAGGGTCCGCTAAGGTTCCACCCGCCCCGACACACGCACAGCTCCCCTGCTTCCCCACCCTCTTCAGCCTCTGCTCACCGGCTTCCCCTCTTTTGTCGGTGAGACCCCTCAGCCGAGACTGCAGAGCCTTTTTGTCCCCCACAATTCCGGGACGCCCGGTACCCGATGGGGTGCGCCCCAAGCACCCCAATGAGGAGCCCCAATGGCCGCCCCGCCCCCTCTCTACGACTGTGCCCCCGGGGCTGTAAAGTCTGTCCAGAAAGCGCACCCAGGTCAAGCCCCCAAACCCCAAGGAGAGTCCTGGCCTCGGTCCCCCTCGCCCACCTCCGCGCTTACATCCCACACTAGGCACCGCGGCGCACGCCGCCCGGAGCCTGCTGGGACATGAAGTCCCGCCCCTAGGGTCGCACTACCCGCCGGGAAGTGGAGTCTGGGCCCACCCCTGCCCCGCTGAGCCTGGAAATAGTGGCGGGCCGGGCCGCTGCGCTGTGGCTTCTGGGATCTCTAGGTCCGCGGCTCCGGACACCTCCTTCCCGAGATACTCAGGGATTGGCCCTTCCCTTCAGGCCGACCAGGCAGGAAGCGTGCCCGCAGTGCCTTCTGGAAAATGTAGTCCGGGGGCACTACCTGCAGACTCGGGGTGGGAGGTCGCCGAGCTTCTGCCGGTTTTGCTGTCACGGGTCGGTCGGCAAGTTATGAGGAAAAAGATCAGGTTGCTTGATCCAGAAAAAATTAAAATAAAACAATATGAGAAAAACAGATACTTTTAAACACTGCCAGAGAGTAAATGTGTTCAGCCGCTTTAGCTGGGTATCAGTGTCTGTTAACATATAAAGATGCCTACTCTGTGTGCAGCACTCGTTTCCCACTTCCGCCCGCGAGATACTCTAACACGTGCTAAGAGTAGCTTTTGTTTGTTTGTTTTGAGACACGGTCTTTCTCTTTCGCCCAGGCTGGAATGCAGTGGCTCGATCTGGGCTCACTGCAGCCTCGACTTCACGGGCTCAAGCGATTCTCGTGCCTCAGCCTCCCGAGTAGCTGTGATCACAGGCGTGCGCCACCACTCCCGCCTAATTTTGTGTGTATGTGCATATACATAAATATATATACATATAACACACACACACACACACACACACACACATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGCAGAGACAGGGATTCCCAGCTACTTGGGAGGCTGAGGCGCGGGGAATCCCTTGAACCTGGGAGGCGGAGGCTTCAGTGAGCCAGAATCTTGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGATTCCGTCTTAAAAAAAAGTCCCAAGTAGCTGGGATTATAGGCGTCCGCCACCACACCCAGAAAACTTTTTGTATTTTAAGTAGAGATGGGGTTTCACCATGTTGGCCAGACTGGTCTCGAACCCCTAACCTCAAGTGATCTGCCCGCCTCAGCCTCCCAAAGTGCTAAAATTACAGGCGTGAACCACCTTACCCGGCCAAAGAGTAGTTATTTGTTTATTTGTTTTGAGACAGAGTCTCGCTCTGTCACTCAGGCTGGAGTGCAGTGGGGTGATCTCGGCTCACTGCAACCTCTGCCTCCCA | pathogenic | 178,037 |
Mutation at chromosome 11, position 64809777, within MEN1 (menin 1): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic | CTGCTTCAGGGAATGACAGCCAGGAAAAGGGGCTCTTCTGTCTTCCCTTCCTATGTGGGTGGTGATGGGAAGAAAGGGGTGTGGCCCAAGAAAATGGAGTCCCTTGGGTGGCTTGGGCTACTACAGTATGAAGGGGACAAGGCTGGGGGGAGGGAACAATACCCGCTCAGCCACACCGGCATTGACTGTCTGGCCCCTGCGGTCCTCGTTGCCCTTGCCGTGCCAGGTGACCTCAGCTGTCTGCTCCCCATTGGGCCCAAACACTACCCAGGCATGATCCTCAGACAGGGCGAGGTGGACATCCCGGAGACCCAGGGCCTGGCAGGCCCCAACCACAGCAAAGGCCACACCGGAGCTGTCCAATTTGGTGCCTGTGGAAGGGGGAGGTAATGAAAGAGGGTCCTCTGTGCTTTAACATGGGGAAAGGGGGCCAGGTAGTGATGGGCCACACTCCCTCCCACTCCCTTTCCAAGCCTGTGACCCAACCTCAGATTCTCCTGCCCACTATCCCTCCATCCCTTCCCTCCCACGTGTTCAAAGACTCTCTCCCTGTTTACACCCTCTATGTCCAACAAGATACCTTTCTGGATATCCTGTAGCTGACCCAGCCTTTGGCCCTACCTCGTCTTTCTCTGCAACTCTATTATATATTCTATGGATTTAGGGATTCCATTTTACTGCACTTACTAGGTTAAAACAGGAATGGCAAAAACAGGACGCTGGCCAACACTCTCTGGCTATACACCCACCAACAAATAACCCTCATTTATCTCTGCACTCTTTTCCTGCTAAGCTGAGAAGCAGCCTCTGATTCCTTCTCAATATGGCACACCAGGATGGGATTGCCAGTCAACCGGGCTTGGTGCAAAGCTCTTTGCAAGCCCTGACTCTTAAGCCTTTTGAGGTCAAGCCCCTTCTCTGTCTCAAACATTTTTGACCAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCTCGTCTCTACTAAAAATCCAAAAAAAAATTAGCCAGGCATGGTGGCAGGCTCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGGCAGGAGAATGGCATGAAAGCAGGAGGCAGAGCTTGCAGTGAGCCGAGATTGCACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACGCCGTCTGAAAAAAAAAAAAAAATTTTCATAGGCCACCAGTTGCGGTGGCTCACACCTGTAATCCCAGCATTTGGGAGACTGAGGCGGGCAGATCACTTGAGCCCAAGAGTTCAAGACCAGTCTGGGCCACATAGTGAGACACCATCTCTACAAAAAAAATACAAAAAATTAACCAGCACCACGGTGCATGCCTGTACTCTCAGCTACTCAGGAGGCTGAGGTTGGAGGATCTCTGAGCCCAGGGAGACTGAGGCTGCAGTGAGCCATGATCACACCACTGCACTCCAGCCTGGGGGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAATCTTCATAGCCATTATTTTGTTTAACTGCCTCAAATGCAGCCCAATTTCATCTTCTTGCCCCCTAAATCTGCTGCCGCCCTCTGTGTCTCATGCTTAGAACTCCTGTAGCTGTTCAGTGGCAAGGGTGGGGGTGCTGAGGGGGCAGAGGTGAGGTTGATGATTTGGAGCCAAGTGATCAGGCTTCACTTCCAGCCCTGCCATGCCGTGTGTGACTTTGGCATATCATTTCCCCTCTCTGGGCTTCAGTTTCCCAACTGCAAAGAGGAAAATAACACCTGCCGAACCTCACAAGGCTTACAGTTCTTAAAAGGGTTCTGTAAACCATGGAGGGTTTTGAAGAAGTGGGTCATGGATAAGATTCCCACCTACTGGGCTCCAACCTGTGATGAAGCTGAAGAGGGACTGGATGTGGGCCCGATCCTTGAAGTAGGAGCGGCTGAGGCTGTTCCATATGACATCGGAGACCTTCTTCACCAGCTCACGGCTGGAGACACCCCCTTCTCGAGGATAGAGGGACAGGTCGACGGCGCCTCGGATCTGGGCGGTGAAGCGGGCATAGAGGGCGGCGATGATAGACAGGTCGGCCACGGGAAAGTAGGTGAGGCCGCCAGGCGGGTCGGGGGCGGGGCTGGGCTGGAAGGTGAGCTCGGGAACGTTGGTAGGGATGACGCGGTTGACAGCCAGAAAATGCTCCACGAAGCCCAGCACCAAGGAAAGGAGCACCAGGTCCGGCTCCTCTCGGCCCAGCTCGGCAGCAAACAGGCGCACCACGTCGTCGATGGAGCGCAGCGGGAACAGCGTCTTCTGGGCGGCCTTCAGCCCCATGGCGGCGGGCGGTGGGCGGCGGCCTGCAAGGCAAGCCGGGGGAGGGAGGGTCGGGCAGGTTCGGCCGGGGAGCCTCCTCCCAGGGTCCGCTAAGGTTCCACCCGCCCCGACACACGCACAGCTCCCCTGCTTCCCCACCCTCTTCAGCCTCTGCTCACCGGCTTCCCCTCTTTTGTCGGTGAGACCCCTCAGCCGAGACTGCAGAGCCTTTTTGTCCCCCACAATTCCGGGACGCCCGGTACCCGATGGGGTGCGCCCCAAGCACCCCAATGAGGAGCCCCAATGGCCGCCCCGCCCCCTCTCTACGACTGTGCCCCCGGGGCTGTAAAGTCTGTCCAGAAAGCGCACCCAGGTCAAGCCCCCAAACCCCAAGGAGAGTCCTGGCCTCGGTCCCCCTCGCCCACCTCCGCGCTTACATCCCACACTAGGCACCGCGGCGCACGCCGCCCGGAGCCTGCTGGGACATGAAGTCCCGCCCCTAGGGTCGCACTACCCGCCGGGAAGTGGAGTCTGGGCCCACCCCTGCCCCGCTGAGCCTGGAAATAGTGGCGGGCCGGGCCGCTGCGCTGTGGCTTCTGGGATCTCTAGGTCCGCGGCTCCGGACACCTCCTTCCCGAGATACTCAGGGATTGGCCCTTCCCTTCAGGCCGACCAGGCAGGAAGCGTGCCCGCAGTGCCTTCTGGAAAATGTAGTCCGGGGGCACTACCTGCAGACTCGGGGTGGGAGGTCGCCGAGCTTCTGCCGGTTTTGCTGTCACGGGTCGGTCGGCAAGTTATGAGGAAAAAGATCAGGTTGCTTGATCCAGAAAAAATTAAAATAAAACAATATGAGAAAAACAGATACTTTTAAACACTGCCAGAGAGTAAATGTGTTCAGCCGCTTTAGCTGGGTATCAGTGTCTGTTAACATATAAAGATGCCTACTCTGTGTGCAGCACTCGTTTCCCACTTCCGCCCGCGAGATACTCTAACACGTGCTAAGAGTAGCTTTTGTTTGTTTGTTTTGAGACACGGTCTTTCTCTTTCGCCCAGGCTGGAATGCAGTGGCTCGATCTGGGCTCACTGCAGCCTCGACTTCACGGGCTCAAGCGATTCTCGTGCCTCAGCCTCCCGAGTAGCTGTGATCACAGGCGTGCGCCACCACTCCCGCCTAATTTTGTGTGTATGTGCATATACATAAATATATATACATATAACACACACACACACACACACACACACACATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGCAGAGACAGGGATTCCCAGCTACTTGGGAGGCTGAGGCGCGGGGAATCCCTTGAACCTGGGAGGCGGAGGCTTCAGTGAGCCAGAATCTTGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGATTCCGTCTTAAAAAAAAGTCCCAAGTAGCTGGGATTATAGGCGTCCGCCACCACACCCAGAAAACTTTTTGTATTTTAAGTAGAGATGGGGTTTCACCATGTTGGCCAGACTGGTCTCGAACCCCTAACCTCAAGTGATCTGCCCGCCTCAGCCTCCCAAAGTGCTAAAATTACAGGCGTGAACCACCTTACCCGGCCAAAGAGTAGTTATTTGTTTATTTGTTTTGAGACAGAGTCTCGCTCTGTCACTCAGGCTGGAGTGCAGTGGGGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGT | CTGCTTCAGGGAATGACAGCCAGGAAAAGGGGCTCTTCTGTCTTCCCTTCCTATGTGGGTGGTGATGGGAAGAAAGGGGTGTGGCCCAAGAAAATGGAGTCCCTTGGGTGGCTTGGGCTACTACAGTATGAAGGGGACAAGGCTGGGGGGAGGGAACAATACCCGCTCAGCCACACCGGCATTGACTGTCTGGCCCCTGCGGTCCTCGTTGCCCTTGCCGTGCCAGGTGACCTCAGCTGTCTGCTCCCCATTGGGCCCAAACACTACCCAGGCATGATCCTCAGACAGGGCGAGGTGGACATCCCGGAGACCCAGGGCCTGGCAGGCCCCAACCACAGCAAAGGCCACACCGGAGCTGTCCAATTTGGTGCCTGTGGAAGGGGGAGGTAATGAAAGAGGGTCCTCTGTGCTTTAACATGGGGAAAGGGGGCCAGGTAGTGATGGGCCACACTCCCTCCCACTCCCTTTCCAAGCCTGTGACCCAACCTCAGATTCTCCTGCCCACTATCCCTCCATCCCTTCCCTCCCACGTGTTCAAAGACTCTCTCCCTGTTTACACCCTCTATGTCCAACAAGATACCTTTCTGGATATCCTGTAGCTGACCCAGCCTTTGGCCCTACCTCGTCTTTCTCTGCAACTCTATTATATATTCTATGGATTTAGGGATTCCATTTTACTGCACTTACTAGGTTAAAACAGGAATGGCAAAAACAGGACGCTGGCCAACACTCTCTGGCTATACACCCACCAACAAATAACCCTCATTTATCTCTGCACTCTTTTCCTGCTAAGCTGAGAAGCAGCCTCTGATTCCTTCTCAATATGGCACACCAGGATGGGATTGCCAGTCAACCGGGCTTGGTGCAAAGCTCTTTGCAAGCCCTGACTCTTAAGCCTTTTGAGGTCAAGCCCCTTCTCTGTCTCAAACATTTTTGACCAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCTCGTCTCTACTAAAAATCCAAAAAAAAATTAGCCAGGCATGGTGGCAGGCTCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGGCAGGAGAATGGCATGAAAGCAGGAGGCAGAGCTTGCAGTGAGCCGAGATTGCACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACGCCGTCTGAAAAAAAAAAAAAAATTTTCATAGGCCACCAGTTGCGGTGGCTCACACCTGTAATCCCAGCATTTGGGAGACTGAGGCGGGCAGATCACTTGAGCCCAAGAGTTCAAGACCAGTCTGGGCCACATAGTGAGACACCATCTCTACAAAAAAAATACAAAAAATTAACCAGCACCACGGTGCATGCCTGTACTCTCAGCTACTCAGGAGGCTGAGGTTGGAGGATCTCTGAGCCCAGGGAGACTGAGGCTGCAGTGAGCCATGATCACACCACTGCACTCCAGCCTGGGGGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAATCTTCATAGCCATTATTTTGTTTAACTGCCTCAAATGCAGCCCAATTTCATCTTCTTGCCCCCTAAATCTGCTGCCGCCCTCTGTGTCTCATGCTTAGAACTCCTGTAGCTGTTCAGTGGCAAGGGTGGGGGTGCTGAGGGGGCAGAGGTGAGGTTGATGATTTGGAGCCAAGTGATCAGGCTTCACTTCCAGCCCTGCCATGCCGTGTGTGACTTTGGCATATCATTTCCCCTCTCTGGGCTTCAGTTTCCCAACTGCAAAGAGGAAAATAACACCTGCCGAACCTCACAAGGCTTACAGTTCTTAAAAGGGTTCTGTAAACCATGGAGGGTTTTGAAGAAGTGGGTCATGGATAAGATTCCCACCTACTGGGCTCCAACCTGTGATGAAGCTGAAGAGGGACTGGATGTGGGCCCGATCCTTGAAGTAGGAGCGGCTGAGGCTGTTCCATATGACATCGGAGACCTTCTTCACCAGCTCACGGCTGGAGACACCCCCCTTCTCGAGGATAGAGGGACAGGTCGACGGCGCCTCGGATCTGGGCGGTGAAGCGGGCATAGAGGGCGGCGATGATAGACAGGTCGGCCACGGGAAAGTAGGTGAGGCCGCCAGGCGGGTCGGGGGCGGGGCTGGGCTGGAAGGTGAGCTCGGGAACGTTGGTAGGGATGACGCGGTTGACAGCCAGAAAATGCTCCACGAAGCCCAGCACCAAGGAAAGGAGCACCAGGTCCGGCTCCTCTCGGCCCAGCTCGGCAGCAAACAGGCGCACCACGTCGTCGATGGAGCGCAGCGGGAACAGCGTCTTCTGGGCGGCCTTCAGCCCCATGGCGGCGGGCGGTGGGCGGCGGCCTGCAAGGCAAGCCGGGGGAGGGAGGGTCGGGCAGGTTCGGCCGGGGAGCCTCCTCCCAGGGTCCGCTAAGGTTCCACCCGCCCCGACACACGCACAGCTCCCCTGCTTCCCCACCCTCTTCAGCCTCTGCTCACCGGCTTCCCCTCTTTTGTCGGTGAGACCCCTCAGCCGAGACTGCAGAGCCTTTTTGTCCCCCACAATTCCGGGACGCCCGGTACCCGATGGGGTGCGCCCCAAGCACCCCAATGAGGAGCCCCAATGGCCGCCCCGCCCCCTCTCTACGACTGTGCCCCCGGGGCTGTAAAGTCTGTCCAGAAAGCGCACCCAGGTCAAGCCCCCAAACCCCAAGGAGAGTCCTGGCCTCGGTCCCCCTCGCCCACCTCCGCGCTTACATCCCACACTAGGCACCGCGGCGCACGCCGCCCGGAGCCTGCTGGGACATGAAGTCCCGCCCCTAGGGTCGCACTACCCGCCGGGAAGTGGAGTCTGGGCCCACCCCTGCCCCGCTGAGCCTGGAAATAGTGGCGGGCCGGGCCGCTGCGCTGTGGCTTCTGGGATCTCTAGGTCCGCGGCTCCGGACACCTCCTTCCCGAGATACTCAGGGATTGGCCCTTCCCTTCAGGCCGACCAGGCAGGAAGCGTGCCCGCAGTGCCTTCTGGAAAATGTAGTCCGGGGGCACTACCTGCAGACTCGGGGTGGGAGGTCGCCGAGCTTCTGCCGGTTTTGCTGTCACGGGTCGGTCGGCAAGTTATGAGGAAAAAGATCAGGTTGCTTGATCCAGAAAAAATTAAAATAAAACAATATGAGAAAAACAGATACTTTTAAACACTGCCAGAGAGTAAATGTGTTCAGCCGCTTTAGCTGGGTATCAGTGTCTGTTAACATATAAAGATGCCTACTCTGTGTGCAGCACTCGTTTCCCACTTCCGCCCGCGAGATACTCTAACACGTGCTAAGAGTAGCTTTTGTTTGTTTGTTTTGAGACACGGTCTTTCTCTTTCGCCCAGGCTGGAATGCAGTGGCTCGATCTGGGCTCACTGCAGCCTCGACTTCACGGGCTCAAGCGATTCTCGTGCCTCAGCCTCCCGAGTAGCTGTGATCACAGGCGTGCGCCACCACTCCCGCCTAATTTTGTGTGTATGTGCATATACATAAATATATATACATATAACACACACACACACACACACACACACACATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGCAGAGACAGGGATTCCCAGCTACTTGGGAGGCTGAGGCGCGGGGAATCCCTTGAACCTGGGAGGCGGAGGCTTCAGTGAGCCAGAATCTTGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGATTCCGTCTTAAAAAAAAGTCCCAAGTAGCTGGGATTATAGGCGTCCGCCACCACACCCAGAAAACTTTTTGTATTTTAAGTAGAGATGGGGTTTCACCATGTTGGCCAGACTGGTCTCGAACCCCTAACCTCAAGTGATCTGCCCGCCTCAGCCTCCCAAAGTGCTAAAATTACAGGCGTGAACCACCTTACCCGGCCAAAGAGTAGTTATTTGTTTATTTGTTTTGAGACAGAGTCTCGCTCTGTCACTCAGGCTGGAGTGCAGTGGGGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAG | pathogenic | 178,041 |
Clinical significance of chromosome 11, position 64809789, gene MEN1 (menin 1): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Multiple_endocrine_neoplasia,_type_1'] | ATGACAGCCAGGAAAAGGGGCTCTTCTGTCTTCCCTTCCTATGTGGGTGGTGATGGGAAGAAAGGGGTGTGGCCCAAGAAAATGGAGTCCCTTGGGTGGCTTGGGCTACTACAGTATGAAGGGGACAAGGCTGGGGGGAGGGAACAATACCCGCTCAGCCACACCGGCATTGACTGTCTGGCCCCTGCGGTCCTCGTTGCCCTTGCCGTGCCAGGTGACCTCAGCTGTCTGCTCCCCATTGGGCCCAAACACTACCCAGGCATGATCCTCAGACAGGGCGAGGTGGACATCCCGGAGACCCAGGGCCTGGCAGGCCCCAACCACAGCAAAGGCCACACCGGAGCTGTCCAATTTGGTGCCTGTGGAAGGGGGAGGTAATGAAAGAGGGTCCTCTGTGCTTTAACATGGGGAAAGGGGGCCAGGTAGTGATGGGCCACACTCCCTCCCACTCCCTTTCCAAGCCTGTGACCCAACCTCAGATTCTCCTGCCCACTATCCCTCCATCCCTTCCCTCCCACGTGTTCAAAGACTCTCTCCCTGTTTACACCCTCTATGTCCAACAAGATACCTTTCTGGATATCCTGTAGCTGACCCAGCCTTTGGCCCTACCTCGTCTTTCTCTGCAACTCTATTATATATTCTATGGATTTAGGGATTCCATTTTACTGCACTTACTAGGTTAAAACAGGAATGGCAAAAACAGGACGCTGGCCAACACTCTCTGGCTATACACCCACCAACAAATAACCCTCATTTATCTCTGCACTCTTTTCCTGCTAAGCTGAGAAGCAGCCTCTGATTCCTTCTCAATATGGCACACCAGGATGGGATTGCCAGTCAACCGGGCTTGGTGCAAAGCTCTTTGCAAGCCCTGACTCTTAAGCCTTTTGAGGTCAAGCCCCTTCTCTGTCTCAAACATTTTTGACCAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCTCGTCTCTACTAAAAATCCAAAAAAAAATTAGCCAGGCATGGTGGCAGGCTCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGGCAGGAGAATGGCATGAAAGCAGGAGGCAGAGCTTGCAGTGAGCCGAGATTGCACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACGCCGTCTGAAAAAAAAAAAAAAATTTTCATAGGCCACCAGTTGCGGTGGCTCACACCTGTAATCCCAGCATTTGGGAGACTGAGGCGGGCAGATCACTTGAGCCCAAGAGTTCAAGACCAGTCTGGGCCACATAGTGAGACACCATCTCTACAAAAAAAATACAAAAAATTAACCAGCACCACGGTGCATGCCTGTACTCTCAGCTACTCAGGAGGCTGAGGTTGGAGGATCTCTGAGCCCAGGGAGACTGAGGCTGCAGTGAGCCATGATCACACCACTGCACTCCAGCCTGGGGGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAATCTTCATAGCCATTATTTTGTTTAACTGCCTCAAATGCAGCCCAATTTCATCTTCTTGCCCCCTAAATCTGCTGCCGCCCTCTGTGTCTCATGCTTAGAACTCCTGTAGCTGTTCAGTGGCAAGGGTGGGGGTGCTGAGGGGGCAGAGGTGAGGTTGATGATTTGGAGCCAAGTGATCAGGCTTCACTTCCAGCCCTGCCATGCCGTGTGTGACTTTGGCATATCATTTCCCCTCTCTGGGCTTCAGTTTCCCAACTGCAAAGAGGAAAATAACACCTGCCGAACCTCACAAGGCTTACAGTTCTTAAAAGGGTTCTGTAAACCATGGAGGGTTTTGAAGAAGTGGGTCATGGATAAGATTCCCACCTACTGGGCTCCAACCTGTGATGAAGCTGAAGAGGGACTGGATGTGGGCCCGATCCTTGAAGTAGGAGCGGCTGAGGCTGTTCCATATGACATCGGAGACCTTCTTCACCAGCTCACGGCTGGAGACACCCCCTTCTCGAGGATAGAGGGACAGGTCGACGGCGCCTCGGATCTGGGCGGTGAAGCGGGCATAGAGGGCGGCGATGATAGACAGGTCGGCCACGGGAAAGTAGGTGAGGCCGCCAGGCGGGTCGGGGGCGGGGCTGGGCTGGAAGGTGAGCTCGGGAACGTTGGTAGGGATGACGCGGTTGACAGCCAGAAAATGCTCCACGAAGCCCAGCACCAAGGAAAGGAGCACCAGGTCCGGCTCCTCTCGGCCCAGCTCGGCAGCAAACAGGCGCACCACGTCGTCGATGGAGCGCAGCGGGAACAGCGTCTTCTGGGCGGCCTTCAGCCCCATGGCGGCGGGCGGTGGGCGGCGGCCTGCAAGGCAAGCCGGGGGAGGGAGGGTCGGGCAGGTTCGGCCGGGGAGCCTCCTCCCAGGGTCCGCTAAGGTTCCACCCGCCCCGACACACGCACAGCTCCCCTGCTTCCCCACCCTCTTCAGCCTCTGCTCACCGGCTTCCCCTCTTTTGTCGGTGAGACCCCTCAGCCGAGACTGCAGAGCCTTTTTGTCCCCCACAATTCCGGGACGCCCGGTACCCGATGGGGTGCGCCCCAAGCACCCCAATGAGGAGCCCCAATGGCCGCCCCGCCCCCTCTCTACGACTGTGCCCCCGGGGCTGTAAAGTCTGTCCAGAAAGCGCACCCAGGTCAAGCCCCCAAACCCCAAGGAGAGTCCTGGCCTCGGTCCCCCTCGCCCACCTCCGCGCTTACATCCCACACTAGGCACCGCGGCGCACGCCGCCCGGAGCCTGCTGGGACATGAAGTCCCGCCCCTAGGGTCGCACTACCCGCCGGGAAGTGGAGTCTGGGCCCACCCCTGCCCCGCTGAGCCTGGAAATAGTGGCGGGCCGGGCCGCTGCGCTGTGGCTTCTGGGATCTCTAGGTCCGCGGCTCCGGACACCTCCTTCCCGAGATACTCAGGGATTGGCCCTTCCCTTCAGGCCGACCAGGCAGGAAGCGTGCCCGCAGTGCCTTCTGGAAAATGTAGTCCGGGGGCACTACCTGCAGACTCGGGGTGGGAGGTCGCCGAGCTTCTGCCGGTTTTGCTGTCACGGGTCGGTCGGCAAGTTATGAGGAAAAAGATCAGGTTGCTTGATCCAGAAAAAATTAAAATAAAACAATATGAGAAAAACAGATACTTTTAAACACTGCCAGAGAGTAAATGTGTTCAGCCGCTTTAGCTGGGTATCAGTGTCTGTTAACATATAAAGATGCCTACTCTGTGTGCAGCACTCGTTTCCCACTTCCGCCCGCGAGATACTCTAACACGTGCTAAGAGTAGCTTTTGTTTGTTTGTTTTGAGACACGGTCTTTCTCTTTCGCCCAGGCTGGAATGCAGTGGCTCGATCTGGGCTCACTGCAGCCTCGACTTCACGGGCTCAAGCGATTCTCGTGCCTCAGCCTCCCGAGTAGCTGTGATCACAGGCGTGCGCCACCACTCCCGCCTAATTTTGTGTGTATGTGCATATACATAAATATATATACATATAACACACACACACACACACACACACACACATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGCAGAGACAGGGATTCCCAGCTACTTGGGAGGCTGAGGCGCGGGGAATCCCTTGAACCTGGGAGGCGGAGGCTTCAGTGAGCCAGAATCTTGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGATTCCGTCTTAAAAAAAAGTCCCAAGTAGCTGGGATTATAGGCGTCCGCCACCACACCCAGAAAACTTTTTGTATTTTAAGTAGAGATGGGGTTTCACCATGTTGGCCAGACTGGTCTCGAACCCCTAACCTCAAGTGATCTGCCCGCCTCAGCCTCCCAAAGTGCTAAAATTACAGGCGTGAACCACCTTACCCGGCCAAAGAGTAGTTATTTGTTTATTTGTTTTGAGACAGAGTCTCGCTCTGTCACTCAGGCTGGAGTGCAGTGGGGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTTCTGCC | ATGACAGCCAGGAAAAGGGGCTCTTCTGTCTTCCCTTCCTATGTGGGTGGTGATGGGAAGAAAGGGGTGTGGCCCAAGAAAATGGAGTCCCTTGGGTGGCTTGGGCTACTACAGTATGAAGGGGACAAGGCTGGGGGGAGGGAACAATACCCGCTCAGCCACACCGGCATTGACTGTCTGGCCCCTGCGGTCCTCGTTGCCCTTGCCGTGCCAGGTGACCTCAGCTGTCTGCTCCCCATTGGGCCCAAACACTACCCAGGCATGATCCTCAGACAGGGCGAGGTGGACATCCCGGAGACCCAGGGCCTGGCAGGCCCCAACCACAGCAAAGGCCACACCGGAGCTGTCCAATTTGGTGCCTGTGGAAGGGGGAGGTAATGAAAGAGGGTCCTCTGTGCTTTAACATGGGGAAAGGGGGCCAGGTAGTGATGGGCCACACTCCCTCCCACTCCCTTTCCAAGCCTGTGACCCAACCTCAGATTCTCCTGCCCACTATCCCTCCATCCCTTCCCTCCCACGTGTTCAAAGACTCTCTCCCTGTTTACACCCTCTATGTCCAACAAGATACCTTTCTGGATATCCTGTAGCTGACCCAGCCTTTGGCCCTACCTCGTCTTTCTCTGCAACTCTATTATATATTCTATGGATTTAGGGATTCCATTTTACTGCACTTACTAGGTTAAAACAGGAATGGCAAAAACAGGACGCTGGCCAACACTCTCTGGCTATACACCCACCAACAAATAACCCTCATTTATCTCTGCACTCTTTTCCTGCTAAGCTGAGAAGCAGCCTCTGATTCCTTCTCAATATGGCACACCAGGATGGGATTGCCAGTCAACCGGGCTTGGTGCAAAGCTCTTTGCAAGCCCTGACTCTTAAGCCTTTTGAGGTCAAGCCCCTTCTCTGTCTCAAACATTTTTGACCAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCTCGTCTCTACTAAAAATCCAAAAAAAAATTAGCCAGGCATGGTGGCAGGCTCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGGCAGGAGAATGGCATGAAAGCAGGAGGCAGAGCTTGCAGTGAGCCGAGATTGCACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACGCCGTCTGAAAAAAAAAAAAAAATTTTCATAGGCCACCAGTTGCGGTGGCTCACACCTGTAATCCCAGCATTTGGGAGACTGAGGCGGGCAGATCACTTGAGCCCAAGAGTTCAAGACCAGTCTGGGCCACATAGTGAGACACCATCTCTACAAAAAAAATACAAAAAATTAACCAGCACCACGGTGCATGCCTGTACTCTCAGCTACTCAGGAGGCTGAGGTTGGAGGATCTCTGAGCCCAGGGAGACTGAGGCTGCAGTGAGCCATGATCACACCACTGCACTCCAGCCTGGGGGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAATCTTCATAGCCATTATTTTGTTTAACTGCCTCAAATGCAGCCCAATTTCATCTTCTTGCCCCCTAAATCTGCTGCCGCCCTCTGTGTCTCATGCTTAGAACTCCTGTAGCTGTTCAGTGGCAAGGGTGGGGGTGCTGAGGGGGCAGAGGTGAGGTTGATGATTTGGAGCCAAGTGATCAGGCTTCACTTCCAGCCCTGCCATGCCGTGTGTGACTTTGGCATATCATTTCCCCTCTCTGGGCTTCAGTTTCCCAACTGCAAAGAGGAAAATAACACCTGCCGAACCTCACAAGGCTTACAGTTCTTAAAAGGGTTCTGTAAACCATGGAGGGTTTTGAAGAAGTGGGTCATGGATAAGATTCCCACCTACTGGGCTCCAACCTGTGATGAAGCTGAAGAGGGACTGGATGTGGGCCCGATCCTTGAAGTAGGAGCGGCTGAGGCTGTTCCATATGACATCGGAGACCTTCTTCACCAGCTCACGGCTGGAGACACCCCCTTCTCGAGGGATAGAGGGACAGGTCGACGGCGCCTCGGATCTGGGCGGTGAAGCGGGCATAGAGGGCGGCGATGATAGACAGGTCGGCCACGGGAAAGTAGGTGAGGCCGCCAGGCGGGTCGGGGGCGGGGCTGGGCTGGAAGGTGAGCTCGGGAACGTTGGTAGGGATGACGCGGTTGACAGCCAGAAAATGCTCCACGAAGCCCAGCACCAAGGAAAGGAGCACCAGGTCCGGCTCCTCTCGGCCCAGCTCGGCAGCAAACAGGCGCACCACGTCGTCGATGGAGCGCAGCGGGAACAGCGTCTTCTGGGCGGCCTTCAGCCCCATGGCGGCGGGCGGTGGGCGGCGGCCTGCAAGGCAAGCCGGGGGAGGGAGGGTCGGGCAGGTTCGGCCGGGGAGCCTCCTCCCAGGGTCCGCTAAGGTTCCACCCGCCCCGACACACGCACAGCTCCCCTGCTTCCCCACCCTCTTCAGCCTCTGCTCACCGGCTTCCCCTCTTTTGTCGGTGAGACCCCTCAGCCGAGACTGCAGAGCCTTTTTGTCCCCCACAATTCCGGGACGCCCGGTACCCGATGGGGTGCGCCCCAAGCACCCCAATGAGGAGCCCCAATGGCCGCCCCGCCCCCTCTCTACGACTGTGCCCCCGGGGCTGTAAAGTCTGTCCAGAAAGCGCACCCAGGTCAAGCCCCCAAACCCCAAGGAGAGTCCTGGCCTCGGTCCCCCTCGCCCACCTCCGCGCTTACATCCCACACTAGGCACCGCGGCGCACGCCGCCCGGAGCCTGCTGGGACATGAAGTCCCGCCCCTAGGGTCGCACTACCCGCCGGGAAGTGGAGTCTGGGCCCACCCCTGCCCCGCTGAGCCTGGAAATAGTGGCGGGCCGGGCCGCTGCGCTGTGGCTTCTGGGATCTCTAGGTCCGCGGCTCCGGACACCTCCTTCCCGAGATACTCAGGGATTGGCCCTTCCCTTCAGGCCGACCAGGCAGGAAGCGTGCCCGCAGTGCCTTCTGGAAAATGTAGTCCGGGGGCACTACCTGCAGACTCGGGGTGGGAGGTCGCCGAGCTTCTGCCGGTTTTGCTGTCACGGGTCGGTCGGCAAGTTATGAGGAAAAAGATCAGGTTGCTTGATCCAGAAAAAATTAAAATAAAACAATATGAGAAAAACAGATACTTTTAAACACTGCCAGAGAGTAAATGTGTTCAGCCGCTTTAGCTGGGTATCAGTGTCTGTTAACATATAAAGATGCCTACTCTGTGTGCAGCACTCGTTTCCCACTTCCGCCCGCGAGATACTCTAACACGTGCTAAGAGTAGCTTTTGTTTGTTTGTTTTGAGACACGGTCTTTCTCTTTCGCCCAGGCTGGAATGCAGTGGCTCGATCTGGGCTCACTGCAGCCTCGACTTCACGGGCTCAAGCGATTCTCGTGCCTCAGCCTCCCGAGTAGCTGTGATCACAGGCGTGCGCCACCACTCCCGCCTAATTTTGTGTGTATGTGCATATACATAAATATATATACATATAACACACACACACACACACACACACACACATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGCAGAGACAGGGATTCCCAGCTACTTGGGAGGCTGAGGCGCGGGGAATCCCTTGAACCTGGGAGGCGGAGGCTTCAGTGAGCCAGAATCTTGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGATTCCGTCTTAAAAAAAAGTCCCAAGTAGCTGGGATTATAGGCGTCCGCCACCACACCCAGAAAACTTTTTGTATTTTAAGTAGAGATGGGGTTTCACCATGTTGGCCAGACTGGTCTCGAACCCCTAACCTCAAGTGATCTGCCCGCCTCAGCCTCCCAAAGTGCTAAAATTACAGGCGTGAACCACCTTACCCGGCCAAAGAGTAGTTATTTGTTTATTTGTTTTGAGACAGAGTCTCGCTCTGTCACTCAGGCTGGAGTGCAGTGGGGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTTCTGC | pathogenic | 178,043 |
Gene MEN1 (menin 1) variant at chromosome position 64809802 on chromosome 11: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Multiple_endocrine_neoplasia,_type_1'] | AAAGGGGCTCTTCTGTCTTCCCTTCCTATGTGGGTGGTGATGGGAAGAAAGGGGTGTGGCCCAAGAAAATGGAGTCCCTTGGGTGGCTTGGGCTACTACAGTATGAAGGGGACAAGGCTGGGGGGAGGGAACAATACCCGCTCAGCCACACCGGCATTGACTGTCTGGCCCCTGCGGTCCTCGTTGCCCTTGCCGTGCCAGGTGACCTCAGCTGTCTGCTCCCCATTGGGCCCAAACACTACCCAGGCATGATCCTCAGACAGGGCGAGGTGGACATCCCGGAGACCCAGGGCCTGGCAGGCCCCAACCACAGCAAAGGCCACACCGGAGCTGTCCAATTTGGTGCCTGTGGAAGGGGGAGGTAATGAAAGAGGGTCCTCTGTGCTTTAACATGGGGAAAGGGGGCCAGGTAGTGATGGGCCACACTCCCTCCCACTCCCTTTCCAAGCCTGTGACCCAACCTCAGATTCTCCTGCCCACTATCCCTCCATCCCTTCCCTCCCACGTGTTCAAAGACTCTCTCCCTGTTTACACCCTCTATGTCCAACAAGATACCTTTCTGGATATCCTGTAGCTGACCCAGCCTTTGGCCCTACCTCGTCTTTCTCTGCAACTCTATTATATATTCTATGGATTTAGGGATTCCATTTTACTGCACTTACTAGGTTAAAACAGGAATGGCAAAAACAGGACGCTGGCCAACACTCTCTGGCTATACACCCACCAACAAATAACCCTCATTTATCTCTGCACTCTTTTCCTGCTAAGCTGAGAAGCAGCCTCTGATTCCTTCTCAATATGGCACACCAGGATGGGATTGCCAGTCAACCGGGCTTGGTGCAAAGCTCTTTGCAAGCCCTGACTCTTAAGCCTTTTGAGGTCAAGCCCCTTCTCTGTCTCAAACATTTTTGACCAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCTCGTCTCTACTAAAAATCCAAAAAAAAATTAGCCAGGCATGGTGGCAGGCTCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGGCAGGAGAATGGCATGAAAGCAGGAGGCAGAGCTTGCAGTGAGCCGAGATTGCACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACGCCGTCTGAAAAAAAAAAAAAAATTTTCATAGGCCACCAGTTGCGGTGGCTCACACCTGTAATCCCAGCATTTGGGAGACTGAGGCGGGCAGATCACTTGAGCCCAAGAGTTCAAGACCAGTCTGGGCCACATAGTGAGACACCATCTCTACAAAAAAAATACAAAAAATTAACCAGCACCACGGTGCATGCCTGTACTCTCAGCTACTCAGGAGGCTGAGGTTGGAGGATCTCTGAGCCCAGGGAGACTGAGGCTGCAGTGAGCCATGATCACACCACTGCACTCCAGCCTGGGGGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAATCTTCATAGCCATTATTTTGTTTAACTGCCTCAAATGCAGCCCAATTTCATCTTCTTGCCCCCTAAATCTGCTGCCGCCCTCTGTGTCTCATGCTTAGAACTCCTGTAGCTGTTCAGTGGCAAGGGTGGGGGTGCTGAGGGGGCAGAGGTGAGGTTGATGATTTGGAGCCAAGTGATCAGGCTTCACTTCCAGCCCTGCCATGCCGTGTGTGACTTTGGCATATCATTTCCCCTCTCTGGGCTTCAGTTTCCCAACTGCAAAGAGGAAAATAACACCTGCCGAACCTCACAAGGCTTACAGTTCTTAAAAGGGTTCTGTAAACCATGGAGGGTTTTGAAGAAGTGGGTCATGGATAAGATTCCCACCTACTGGGCTCCAACCTGTGATGAAGCTGAAGAGGGACTGGATGTGGGCCCGATCCTTGAAGTAGGAGCGGCTGAGGCTGTTCCATATGACATCGGAGACCTTCTTCACCAGCTCACGGCTGGAGACACCCCCTTCTCGAGGATAGAGGGACAGGTCGACGGCGCCTCGGATCTGGGCGGTGAAGCGGGCATAGAGGGCGGCGATGATAGACAGGTCGGCCACGGGAAAGTAGGTGAGGCCGCCAGGCGGGTCGGGGGCGGGGCTGGGCTGGAAGGTGAGCTCGGGAACGTTGGTAGGGATGACGCGGTTGACAGCCAGAAAATGCTCCACGAAGCCCAGCACCAAGGAAAGGAGCACCAGGTCCGGCTCCTCTCGGCCCAGCTCGGCAGCAAACAGGCGCACCACGTCGTCGATGGAGCGCAGCGGGAACAGCGTCTTCTGGGCGGCCTTCAGCCCCATGGCGGCGGGCGGTGGGCGGCGGCCTGCAAGGCAAGCCGGGGGAGGGAGGGTCGGGCAGGTTCGGCCGGGGAGCCTCCTCCCAGGGTCCGCTAAGGTTCCACCCGCCCCGACACACGCACAGCTCCCCTGCTTCCCCACCCTCTTCAGCCTCTGCTCACCGGCTTCCCCTCTTTTGTCGGTGAGACCCCTCAGCCGAGACTGCAGAGCCTTTTTGTCCCCCACAATTCCGGGACGCCCGGTACCCGATGGGGTGCGCCCCAAGCACCCCAATGAGGAGCCCCAATGGCCGCCCCGCCCCCTCTCTACGACTGTGCCCCCGGGGCTGTAAAGTCTGTCCAGAAAGCGCACCCAGGTCAAGCCCCCAAACCCCAAGGAGAGTCCTGGCCTCGGTCCCCCTCGCCCACCTCCGCGCTTACATCCCACACTAGGCACCGCGGCGCACGCCGCCCGGAGCCTGCTGGGACATGAAGTCCCGCCCCTAGGGTCGCACTACCCGCCGGGAAGTGGAGTCTGGGCCCACCCCTGCCCCGCTGAGCCTGGAAATAGTGGCGGGCCGGGCCGCTGCGCTGTGGCTTCTGGGATCTCTAGGTCCGCGGCTCCGGACACCTCCTTCCCGAGATACTCAGGGATTGGCCCTTCCCTTCAGGCCGACCAGGCAGGAAGCGTGCCCGCAGTGCCTTCTGGAAAATGTAGTCCGGGGGCACTACCTGCAGACTCGGGGTGGGAGGTCGCCGAGCTTCTGCCGGTTTTGCTGTCACGGGTCGGTCGGCAAGTTATGAGGAAAAAGATCAGGTTGCTTGATCCAGAAAAAATTAAAATAAAACAATATGAGAAAAACAGATACTTTTAAACACTGCCAGAGAGTAAATGTGTTCAGCCGCTTTAGCTGGGTATCAGTGTCTGTTAACATATAAAGATGCCTACTCTGTGTGCAGCACTCGTTTCCCACTTCCGCCCGCGAGATACTCTAACACGTGCTAAGAGTAGCTTTTGTTTGTTTGTTTTGAGACACGGTCTTTCTCTTTCGCCCAGGCTGGAATGCAGTGGCTCGATCTGGGCTCACTGCAGCCTCGACTTCACGGGCTCAAGCGATTCTCGTGCCTCAGCCTCCCGAGTAGCTGTGATCACAGGCGTGCGCCACCACTCCCGCCTAATTTTGTGTGTATGTGCATATACATAAATATATATACATATAACACACACACACACACACACACACACACATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGCAGAGACAGGGATTCCCAGCTACTTGGGAGGCTGAGGCGCGGGGAATCCCTTGAACCTGGGAGGCGGAGGCTTCAGTGAGCCAGAATCTTGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGATTCCGTCTTAAAAAAAAGTCCCAAGTAGCTGGGATTATAGGCGTCCGCCACCACACCCAGAAAACTTTTTGTATTTTAAGTAGAGATGGGGTTTCACCATGTTGGCCAGACTGGTCTCGAACCCCTAACCTCAAGTGATCTGCCCGCCTCAGCCTCCCAAAGTGCTAAAATTACAGGCGTGAACCACCTTACCCGGCCAAAGAGTAGTTATTTGTTTATTTGTTTTGAGACAGAGTCTCGCTCTGTCACTCAGGCTGGAGTGCAGTGGGGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTTCTGCCTCAGCTTCCCAAG | AAAGGGGCTCTTCTGTCTTCCCTTCCTATGTGGGTGGTGATGGGAAGAAAGGGGTGTGGCCCAAGAAAATGGAGTCCCTTGGGTGGCTTGGGCTACTACAGTATGAAGGGGACAAGGCTGGGGGGAGGGAACAATACCCGCTCAGCCACACCGGCATTGACTGTCTGGCCCCTGCGGTCCTCGTTGCCCTTGCCGTGCCAGGTGACCTCAGCTGTCTGCTCCCCATTGGGCCCAAACACTACCCAGGCATGATCCTCAGACAGGGCGAGGTGGACATCCCGGAGACCCAGGGCCTGGCAGGCCCCAACCACAGCAAAGGCCACACCGGAGCTGTCCAATTTGGTGCCTGTGGAAGGGGGAGGTAATGAAAGAGGGTCCTCTGTGCTTTAACATGGGGAAAGGGGGCCAGGTAGTGATGGGCCACACTCCCTCCCACTCCCTTTCCAAGCCTGTGACCCAACCTCAGATTCTCCTGCCCACTATCCCTCCATCCCTTCCCTCCCACGTGTTCAAAGACTCTCTCCCTGTTTACACCCTCTATGTCCAACAAGATACCTTTCTGGATATCCTGTAGCTGACCCAGCCTTTGGCCCTACCTCGTCTTTCTCTGCAACTCTATTATATATTCTATGGATTTAGGGATTCCATTTTACTGCACTTACTAGGTTAAAACAGGAATGGCAAAAACAGGACGCTGGCCAACACTCTCTGGCTATACACCCACCAACAAATAACCCTCATTTATCTCTGCACTCTTTTCCTGCTAAGCTGAGAAGCAGCCTCTGATTCCTTCTCAATATGGCACACCAGGATGGGATTGCCAGTCAACCGGGCTTGGTGCAAAGCTCTTTGCAAGCCCTGACTCTTAAGCCTTTTGAGGTCAAGCCCCTTCTCTGTCTCAAACATTTTTGACCAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCTCGTCTCTACTAAAAATCCAAAAAAAAATTAGCCAGGCATGGTGGCAGGCTCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGGCAGGAGAATGGCATGAAAGCAGGAGGCAGAGCTTGCAGTGAGCCGAGATTGCACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACGCCGTCTGAAAAAAAAAAAAAAATTTTCATAGGCCACCAGTTGCGGTGGCTCACACCTGTAATCCCAGCATTTGGGAGACTGAGGCGGGCAGATCACTTGAGCCCAAGAGTTCAAGACCAGTCTGGGCCACATAGTGAGACACCATCTCTACAAAAAAAATACAAAAAATTAACCAGCACCACGGTGCATGCCTGTACTCTCAGCTACTCAGGAGGCTGAGGTTGGAGGATCTCTGAGCCCAGGGAGACTGAGGCTGCAGTGAGCCATGATCACACCACTGCACTCCAGCCTGGGGGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAATCTTCATAGCCATTATTTTGTTTAACTGCCTCAAATGCAGCCCAATTTCATCTTCTTGCCCCCTAAATCTGCTGCCGCCCTCTGTGTCTCATGCTTAGAACTCCTGTAGCTGTTCAGTGGCAAGGGTGGGGGTGCTGAGGGGGCAGAGGTGAGGTTGATGATTTGGAGCCAAGTGATCAGGCTTCACTTCCAGCCCTGCCATGCCGTGTGTGACTTTGGCATATCATTTCCCCTCTCTGGGCTTCAGTTTCCCAACTGCAAAGAGGAAAATAACACCTGCCGAACCTCACAAGGCTTACAGTTCTTAAAAGGGTTCTGTAAACCATGGAGGGTTTTGAAGAAGTGGGTCATGGATAAGATTCCCACCTACTGGGCTCCAACCTGTGATGAAGCTGAAGAGGGACTGGATGTGGGCCCGATCCTTGAAGTAGGAGCGGCTGAGGCTGTTCCATATGACATCGGAGACCTTCTTCACCAGCTCACGGCTGGAGACACCCCCTTCTCGAGGATAGAGGGACAGTCGACGGCGCCTCGGATCTGGGCGGTGAAGCGGGCATAGAGGGCGGCGATGATAGACAGGTCGGCCACGGGAAAGTAGGTGAGGCCGCCAGGCGGGTCGGGGGCGGGGCTGGGCTGGAAGGTGAGCTCGGGAACGTTGGTAGGGATGACGCGGTTGACAGCCAGAAAATGCTCCACGAAGCCCAGCACCAAGGAAAGGAGCACCAGGTCCGGCTCCTCTCGGCCCAGCTCGGCAGCAAACAGGCGCACCACGTCGTCGATGGAGCGCAGCGGGAACAGCGTCTTCTGGGCGGCCTTCAGCCCCATGGCGGCGGGCGGTGGGCGGCGGCCTGCAAGGCAAGCCGGGGGAGGGAGGGTCGGGCAGGTTCGGCCGGGGAGCCTCCTCCCAGGGTCCGCTAAGGTTCCACCCGCCCCGACACACGCACAGCTCCCCTGCTTCCCCACCCTCTTCAGCCTCTGCTCACCGGCTTCCCCTCTTTTGTCGGTGAGACCCCTCAGCCGAGACTGCAGAGCCTTTTTGTCCCCCACAATTCCGGGACGCCCGGTACCCGATGGGGTGCGCCCCAAGCACCCCAATGAGGAGCCCCAATGGCCGCCCCGCCCCCTCTCTACGACTGTGCCCCCGGGGCTGTAAAGTCTGTCCAGAAAGCGCACCCAGGTCAAGCCCCCAAACCCCAAGGAGAGTCCTGGCCTCGGTCCCCCTCGCCCACCTCCGCGCTTACATCCCACACTAGGCACCGCGGCGCACGCCGCCCGGAGCCTGCTGGGACATGAAGTCCCGCCCCTAGGGTCGCACTACCCGCCGGGAAGTGGAGTCTGGGCCCACCCCTGCCCCGCTGAGCCTGGAAATAGTGGCGGGCCGGGCCGCTGCGCTGTGGCTTCTGGGATCTCTAGGTCCGCGGCTCCGGACACCTCCTTCCCGAGATACTCAGGGATTGGCCCTTCCCTTCAGGCCGACCAGGCAGGAAGCGTGCCCGCAGTGCCTTCTGGAAAATGTAGTCCGGGGGCACTACCTGCAGACTCGGGGTGGGAGGTCGCCGAGCTTCTGCCGGTTTTGCTGTCACGGGTCGGTCGGCAAGTTATGAGGAAAAAGATCAGGTTGCTTGATCCAGAAAAAATTAAAATAAAACAATATGAGAAAAACAGATACTTTTAAACACTGCCAGAGAGTAAATGTGTTCAGCCGCTTTAGCTGGGTATCAGTGTCTGTTAACATATAAAGATGCCTACTCTGTGTGCAGCACTCGTTTCCCACTTCCGCCCGCGAGATACTCTAACACGTGCTAAGAGTAGCTTTTGTTTGTTTGTTTTGAGACACGGTCTTTCTCTTTCGCCCAGGCTGGAATGCAGTGGCTCGATCTGGGCTCACTGCAGCCTCGACTTCACGGGCTCAAGCGATTCTCGTGCCTCAGCCTCCCGAGTAGCTGTGATCACAGGCGTGCGCCACCACTCCCGCCTAATTTTGTGTGTATGTGCATATACATAAATATATATACATATAACACACACACACACACACACACACACACATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGCAGAGACAGGGATTCCCAGCTACTTGGGAGGCTGAGGCGCGGGGAATCCCTTGAACCTGGGAGGCGGAGGCTTCAGTGAGCCAGAATCTTGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGATTCCGTCTTAAAAAAAAGTCCCAAGTAGCTGGGATTATAGGCGTCCGCCACCACACCCAGAAAACTTTTTGTATTTTAAGTAGAGATGGGGTTTCACCATGTTGGCCAGACTGGTCTCGAACCCCTAACCTCAAGTGATCTGCCCGCCTCAGCCTCCCAAAGTGCTAAAATTACAGGCGTGAACCACCTTACCCGGCCAAAGAGTAGTTATTTGTTTATTTGTTTTGAGACAGAGTCTCGCTCTGTCACTCAGGCTGGAGTGCAGTGGGGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTTCTGCCTCAGCTTCCCAAGN | pathogenic | 178,045 |
Regarding the variant at chromosome 11 and position 64809817, affecting gene MEN1 (menin 1): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Multiple_endocrine_neoplasia,_type_1'] | TCTTCCCTTCCTATGTGGGTGGTGATGGGAAGAAAGGGGTGTGGCCCAAGAAAATGGAGTCCCTTGGGTGGCTTGGGCTACTACAGTATGAAGGGGACAAGGCTGGGGGGAGGGAACAATACCCGCTCAGCCACACCGGCATTGACTGTCTGGCCCCTGCGGTCCTCGTTGCCCTTGCCGTGCCAGGTGACCTCAGCTGTCTGCTCCCCATTGGGCCCAAACACTACCCAGGCATGATCCTCAGACAGGGCGAGGTGGACATCCCGGAGACCCAGGGCCTGGCAGGCCCCAACCACAGCAAAGGCCACACCGGAGCTGTCCAATTTGGTGCCTGTGGAAGGGGGAGGTAATGAAAGAGGGTCCTCTGTGCTTTAACATGGGGAAAGGGGGCCAGGTAGTGATGGGCCACACTCCCTCCCACTCCCTTTCCAAGCCTGTGACCCAACCTCAGATTCTCCTGCCCACTATCCCTCCATCCCTTCCCTCCCACGTGTTCAAAGACTCTCTCCCTGTTTACACCCTCTATGTCCAACAAGATACCTTTCTGGATATCCTGTAGCTGACCCAGCCTTTGGCCCTACCTCGTCTTTCTCTGCAACTCTATTATATATTCTATGGATTTAGGGATTCCATTTTACTGCACTTACTAGGTTAAAACAGGAATGGCAAAAACAGGACGCTGGCCAACACTCTCTGGCTATACACCCACCAACAAATAACCCTCATTTATCTCTGCACTCTTTTCCTGCTAAGCTGAGAAGCAGCCTCTGATTCCTTCTCAATATGGCACACCAGGATGGGATTGCCAGTCAACCGGGCTTGGTGCAAAGCTCTTTGCAAGCCCTGACTCTTAAGCCTTTTGAGGTCAAGCCCCTTCTCTGTCTCAAACATTTTTGACCAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCTCGTCTCTACTAAAAATCCAAAAAAAAATTAGCCAGGCATGGTGGCAGGCTCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGGCAGGAGAATGGCATGAAAGCAGGAGGCAGAGCTTGCAGTGAGCCGAGATTGCACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACGCCGTCTGAAAAAAAAAAAAAAATTTTCATAGGCCACCAGTTGCGGTGGCTCACACCTGTAATCCCAGCATTTGGGAGACTGAGGCGGGCAGATCACTTGAGCCCAAGAGTTCAAGACCAGTCTGGGCCACATAGTGAGACACCATCTCTACAAAAAAAATACAAAAAATTAACCAGCACCACGGTGCATGCCTGTACTCTCAGCTACTCAGGAGGCTGAGGTTGGAGGATCTCTGAGCCCAGGGAGACTGAGGCTGCAGTGAGCCATGATCACACCACTGCACTCCAGCCTGGGGGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAATCTTCATAGCCATTATTTTGTTTAACTGCCTCAAATGCAGCCCAATTTCATCTTCTTGCCCCCTAAATCTGCTGCCGCCCTCTGTGTCTCATGCTTAGAACTCCTGTAGCTGTTCAGTGGCAAGGGTGGGGGTGCTGAGGGGGCAGAGGTGAGGTTGATGATTTGGAGCCAAGTGATCAGGCTTCACTTCCAGCCCTGCCATGCCGTGTGTGACTTTGGCATATCATTTCCCCTCTCTGGGCTTCAGTTTCCCAACTGCAAAGAGGAAAATAACACCTGCCGAACCTCACAAGGCTTACAGTTCTTAAAAGGGTTCTGTAAACCATGGAGGGTTTTGAAGAAGTGGGTCATGGATAAGATTCCCACCTACTGGGCTCCAACCTGTGATGAAGCTGAAGAGGGACTGGATGTGGGCCCGATCCTTGAAGTAGGAGCGGCTGAGGCTGTTCCATATGACATCGGAGACCTTCTTCACCAGCTCACGGCTGGAGACACCCCCTTCTCGAGGATAGAGGGACAGGTCGACGGCGCCTCGGATCTGGGCGGTGAAGCGGGCATAGAGGGCGGCGATGATAGACAGGTCGGCCACGGGAAAGTAGGTGAGGCCGCCAGGCGGGTCGGGGGCGGGGCTGGGCTGGAAGGTGAGCTCGGGAACGTTGGTAGGGATGACGCGGTTGACAGCCAGAAAATGCTCCACGAAGCCCAGCACCAAGGAAAGGAGCACCAGGTCCGGCTCCTCTCGGCCCAGCTCGGCAGCAAACAGGCGCACCACGTCGTCGATGGAGCGCAGCGGGAACAGCGTCTTCTGGGCGGCCTTCAGCCCCATGGCGGCGGGCGGTGGGCGGCGGCCTGCAAGGCAAGCCGGGGGAGGGAGGGTCGGGCAGGTTCGGCCGGGGAGCCTCCTCCCAGGGTCCGCTAAGGTTCCACCCGCCCCGACACACGCACAGCTCCCCTGCTTCCCCACCCTCTTCAGCCTCTGCTCACCGGCTTCCCCTCTTTTGTCGGTGAGACCCCTCAGCCGAGACTGCAGAGCCTTTTTGTCCCCCACAATTCCGGGACGCCCGGTACCCGATGGGGTGCGCCCCAAGCACCCCAATGAGGAGCCCCAATGGCCGCCCCGCCCCCTCTCTACGACTGTGCCCCCGGGGCTGTAAAGTCTGTCCAGAAAGCGCACCCAGGTCAAGCCCCCAAACCCCAAGGAGAGTCCTGGCCTCGGTCCCCCTCGCCCACCTCCGCGCTTACATCCCACACTAGGCACCGCGGCGCACGCCGCCCGGAGCCTGCTGGGACATGAAGTCCCGCCCCTAGGGTCGCACTACCCGCCGGGAAGTGGAGTCTGGGCCCACCCCTGCCCCGCTGAGCCTGGAAATAGTGGCGGGCCGGGCCGCTGCGCTGTGGCTTCTGGGATCTCTAGGTCCGCGGCTCCGGACACCTCCTTCCCGAGATACTCAGGGATTGGCCCTTCCCTTCAGGCCGACCAGGCAGGAAGCGTGCCCGCAGTGCCTTCTGGAAAATGTAGTCCGGGGGCACTACCTGCAGACTCGGGGTGGGAGGTCGCCGAGCTTCTGCCGGTTTTGCTGTCACGGGTCGGTCGGCAAGTTATGAGGAAAAAGATCAGGTTGCTTGATCCAGAAAAAATTAAAATAAAACAATATGAGAAAAACAGATACTTTTAAACACTGCCAGAGAGTAAATGTGTTCAGCCGCTTTAGCTGGGTATCAGTGTCTGTTAACATATAAAGATGCCTACTCTGTGTGCAGCACTCGTTTCCCACTTCCGCCCGCGAGATACTCTAACACGTGCTAAGAGTAGCTTTTGTTTGTTTGTTTTGAGACACGGTCTTTCTCTTTCGCCCAGGCTGGAATGCAGTGGCTCGATCTGGGCTCACTGCAGCCTCGACTTCACGGGCTCAAGCGATTCTCGTGCCTCAGCCTCCCGAGTAGCTGTGATCACAGGCGTGCGCCACCACTCCCGCCTAATTTTGTGTGTATGTGCATATACATAAATATATATACATATAACACACACACACACACACACACACACACATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGCAGAGACAGGGATTCCCAGCTACTTGGGAGGCTGAGGCGCGGGGAATCCCTTGAACCTGGGAGGCGGAGGCTTCAGTGAGCCAGAATCTTGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGATTCCGTCTTAAAAAAAAGTCCCAAGTAGCTGGGATTATAGGCGTCCGCCACCACACCCAGAAAACTTTTTGTATTTTAAGTAGAGATGGGGTTTCACCATGTTGGCCAGACTGGTCTCGAACCCCTAACCTCAAGTGATCTGCCCGCCTCAGCCTCCCAAAGTGCTAAAATTACAGGCGTGAACCACCTTACCCGGCCAAAGAGTAGTTATTTGTTTATTTGTTTTGAGACAGAGTCTCGCTCTGTCACTCAGGCTGGAGTGCAGTGGGGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTTCTGCCTCAGCTTCCCAAGTAGCCGGGATTACAG | TCTTCCCTTCCTATGTGGGTGGTGATGGGAAGAAAGGGGTGTGGCCCAAGAAAATGGAGTCCCTTGGGTGGCTTGGGCTACTACAGTATGAAGGGGACAAGGCTGGGGGGAGGGAACAATACCCGCTCAGCCACACCGGCATTGACTGTCTGGCCCCTGCGGTCCTCGTTGCCCTTGCCGTGCCAGGTGACCTCAGCTGTCTGCTCCCCATTGGGCCCAAACACTACCCAGGCATGATCCTCAGACAGGGCGAGGTGGACATCCCGGAGACCCAGGGCCTGGCAGGCCCCAACCACAGCAAAGGCCACACCGGAGCTGTCCAATTTGGTGCCTGTGGAAGGGGGAGGTAATGAAAGAGGGTCCTCTGTGCTTTAACATGGGGAAAGGGGGCCAGGTAGTGATGGGCCACACTCCCTCCCACTCCCTTTCCAAGCCTGTGACCCAACCTCAGATTCTCCTGCCCACTATCCCTCCATCCCTTCCCTCCCACGTGTTCAAAGACTCTCTCCCTGTTTACACCCTCTATGTCCAACAAGATACCTTTCTGGATATCCTGTAGCTGACCCAGCCTTTGGCCCTACCTCGTCTTTCTCTGCAACTCTATTATATATTCTATGGATTTAGGGATTCCATTTTACTGCACTTACTAGGTTAAAACAGGAATGGCAAAAACAGGACGCTGGCCAACACTCTCTGGCTATACACCCACCAACAAATAACCCTCATTTATCTCTGCACTCTTTTCCTGCTAAGCTGAGAAGCAGCCTCTGATTCCTTCTCAATATGGCACACCAGGATGGGATTGCCAGTCAACCGGGCTTGGTGCAAAGCTCTTTGCAAGCCCTGACTCTTAAGCCTTTTGAGGTCAAGCCCCTTCTCTGTCTCAAACATTTTTGACCAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCTCGTCTCTACTAAAAATCCAAAAAAAAATTAGCCAGGCATGGTGGCAGGCTCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGGCAGGAGAATGGCATGAAAGCAGGAGGCAGAGCTTGCAGTGAGCCGAGATTGCACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACGCCGTCTGAAAAAAAAAAAAAAATTTTCATAGGCCACCAGTTGCGGTGGCTCACACCTGTAATCCCAGCATTTGGGAGACTGAGGCGGGCAGATCACTTGAGCCCAAGAGTTCAAGACCAGTCTGGGCCACATAGTGAGACACCATCTCTACAAAAAAAATACAAAAAATTAACCAGCACCACGGTGCATGCCTGTACTCTCAGCTACTCAGGAGGCTGAGGTTGGAGGATCTCTGAGCCCAGGGAGACTGAGGCTGCAGTGAGCCATGATCACACCACTGCACTCCAGCCTGGGGGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAATCTTCATAGCCATTATTTTGTTTAACTGCCTCAAATGCAGCCCAATTTCATCTTCTTGCCCCCTAAATCTGCTGCCGCCCTCTGTGTCTCATGCTTAGAACTCCTGTAGCTGTTCAGTGGCAAGGGTGGGGGTGCTGAGGGGGCAGAGGTGAGGTTGATGATTTGGAGCCAAGTGATCAGGCTTCACTTCCAGCCCTGCCATGCCGTGTGTGACTTTGGCATATCATTTCCCCTCTCTGGGCTTCAGTTTCCCAACTGCAAAGAGGAAAATAACACCTGCCGAACCTCACAAGGCTTACAGTTCTTAAAAGGGTTCTGTAAACCATGGAGGGTTTTGAAGAAGTGGGTCATGGATAAGATTCCCACCTACTGGGCTCCAACCTGTGATGAAGCTGAAGAGGGACTGGATGTGGGCCCGATCCTTGAAGTAGGAGCGGCTGAGGCTGTTCCATATGACATCGGAGACCTTCTTCACCAGCTCACGGCTGGAGACACCCCCTTCTCGAGGATAGAGGGACAGGTCGACGGCGCCTCGATCTGGGCGGTGAAGCGGGCATAGAGGGCGGCGATGATAGACAGGTCGGCCACGGGAAAGTAGGTGAGGCCGCCAGGCGGGTCGGGGGCGGGGCTGGGCTGGAAGGTGAGCTCGGGAACGTTGGTAGGGATGACGCGGTTGACAGCCAGAAAATGCTCCACGAAGCCCAGCACCAAGGAAAGGAGCACCAGGTCCGGCTCCTCTCGGCCCAGCTCGGCAGCAAACAGGCGCACCACGTCGTCGATGGAGCGCAGCGGGAACAGCGTCTTCTGGGCGGCCTTCAGCCCCATGGCGGCGGGCGGTGGGCGGCGGCCTGCAAGGCAAGCCGGGGGAGGGAGGGTCGGGCAGGTTCGGCCGGGGAGCCTCCTCCCAGGGTCCGCTAAGGTTCCACCCGCCCCGACACACGCACAGCTCCCCTGCTTCCCCACCCTCTTCAGCCTCTGCTCACCGGCTTCCCCTCTTTTGTCGGTGAGACCCCTCAGCCGAGACTGCAGAGCCTTTTTGTCCCCCACAATTCCGGGACGCCCGGTACCCGATGGGGTGCGCCCCAAGCACCCCAATGAGGAGCCCCAATGGCCGCCCCGCCCCCTCTCTACGACTGTGCCCCCGGGGCTGTAAAGTCTGTCCAGAAAGCGCACCCAGGTCAAGCCCCCAAACCCCAAGGAGAGTCCTGGCCTCGGTCCCCCTCGCCCACCTCCGCGCTTACATCCCACACTAGGCACCGCGGCGCACGCCGCCCGGAGCCTGCTGGGACATGAAGTCCCGCCCCTAGGGTCGCACTACCCGCCGGGAAGTGGAGTCTGGGCCCACCCCTGCCCCGCTGAGCCTGGAAATAGTGGCGGGCCGGGCCGCTGCGCTGTGGCTTCTGGGATCTCTAGGTCCGCGGCTCCGGACACCTCCTTCCCGAGATACTCAGGGATTGGCCCTTCCCTTCAGGCCGACCAGGCAGGAAGCGTGCCCGCAGTGCCTTCTGGAAAATGTAGTCCGGGGGCACTACCTGCAGACTCGGGGTGGGAGGTCGCCGAGCTTCTGCCGGTTTTGCTGTCACGGGTCGGTCGGCAAGTTATGAGGAAAAAGATCAGGTTGCTTGATCCAGAAAAAATTAAAATAAAACAATATGAGAAAAACAGATACTTTTAAACACTGCCAGAGAGTAAATGTGTTCAGCCGCTTTAGCTGGGTATCAGTGTCTGTTAACATATAAAGATGCCTACTCTGTGTGCAGCACTCGTTTCCCACTTCCGCCCGCGAGATACTCTAACACGTGCTAAGAGTAGCTTTTGTTTGTTTGTTTTGAGACACGGTCTTTCTCTTTCGCCCAGGCTGGAATGCAGTGGCTCGATCTGGGCTCACTGCAGCCTCGACTTCACGGGCTCAAGCGATTCTCGTGCCTCAGCCTCCCGAGTAGCTGTGATCACAGGCGTGCGCCACCACTCCCGCCTAATTTTGTGTGTATGTGCATATACATAAATATATATACATATAACACACACACACACACACACACACACACATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGCAGAGACAGGGATTCCCAGCTACTTGGGAGGCTGAGGCGCGGGGAATCCCTTGAACCTGGGAGGCGGAGGCTTCAGTGAGCCAGAATCTTGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGATTCCGTCTTAAAAAAAAGTCCCAAGTAGCTGGGATTATAGGCGTCCGCCACCACACCCAGAAAACTTTTTGTATTTTAAGTAGAGATGGGGTTTCACCATGTTGGCCAGACTGGTCTCGAACCCCTAACCTCAAGTGATCTGCCCGCCTCAGCCTCCCAAAGTGCTAAAATTACAGGCGTGAACCACCTTACCCGGCCAAAGAGTAGTTATTTGTTTATTTGTTTTGAGACAGAGTCTCGCTCTGTCACTCAGGCTGGAGTGCAGTGGGGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTTCTGCCTCAGCTTCCCAAGTAGCCGGGATTACAGN | pathogenic | 178,051 |
Variant chromosome 11, position 64809833, gene MEN1 (menin 1): benign or pathogenic? Disease(s)? | pathogenic; ['Hereditary_cancer-predisposing_syndrome'] | GGGTGGTGATGGGAAGAAAGGGGTGTGGCCCAAGAAAATGGAGTCCCTTGGGTGGCTTGGGCTACTACAGTATGAAGGGGACAAGGCTGGGGGGAGGGAACAATACCCGCTCAGCCACACCGGCATTGACTGTCTGGCCCCTGCGGTCCTCGTTGCCCTTGCCGTGCCAGGTGACCTCAGCTGTCTGCTCCCCATTGGGCCCAAACACTACCCAGGCATGATCCTCAGACAGGGCGAGGTGGACATCCCGGAGACCCAGGGCCTGGCAGGCCCCAACCACAGCAAAGGCCACACCGGAGCTGTCCAATTTGGTGCCTGTGGAAGGGGGAGGTAATGAAAGAGGGTCCTCTGTGCTTTAACATGGGGAAAGGGGGCCAGGTAGTGATGGGCCACACTCCCTCCCACTCCCTTTCCAAGCCTGTGACCCAACCTCAGATTCTCCTGCCCACTATCCCTCCATCCCTTCCCTCCCACGTGTTCAAAGACTCTCTCCCTGTTTACACCCTCTATGTCCAACAAGATACCTTTCTGGATATCCTGTAGCTGACCCAGCCTTTGGCCCTACCTCGTCTTTCTCTGCAACTCTATTATATATTCTATGGATTTAGGGATTCCATTTTACTGCACTTACTAGGTTAAAACAGGAATGGCAAAAACAGGACGCTGGCCAACACTCTCTGGCTATACACCCACCAACAAATAACCCTCATTTATCTCTGCACTCTTTTCCTGCTAAGCTGAGAAGCAGCCTCTGATTCCTTCTCAATATGGCACACCAGGATGGGATTGCCAGTCAACCGGGCTTGGTGCAAAGCTCTTTGCAAGCCCTGACTCTTAAGCCTTTTGAGGTCAAGCCCCTTCTCTGTCTCAAACATTTTTGACCAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCTCGTCTCTACTAAAAATCCAAAAAAAAATTAGCCAGGCATGGTGGCAGGCTCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGGCAGGAGAATGGCATGAAAGCAGGAGGCAGAGCTTGCAGTGAGCCGAGATTGCACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACGCCGTCTGAAAAAAAAAAAAAAATTTTCATAGGCCACCAGTTGCGGTGGCTCACACCTGTAATCCCAGCATTTGGGAGACTGAGGCGGGCAGATCACTTGAGCCCAAGAGTTCAAGACCAGTCTGGGCCACATAGTGAGACACCATCTCTACAAAAAAAATACAAAAAATTAACCAGCACCACGGTGCATGCCTGTACTCTCAGCTACTCAGGAGGCTGAGGTTGGAGGATCTCTGAGCCCAGGGAGACTGAGGCTGCAGTGAGCCATGATCACACCACTGCACTCCAGCCTGGGGGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAATCTTCATAGCCATTATTTTGTTTAACTGCCTCAAATGCAGCCCAATTTCATCTTCTTGCCCCCTAAATCTGCTGCCGCCCTCTGTGTCTCATGCTTAGAACTCCTGTAGCTGTTCAGTGGCAAGGGTGGGGGTGCTGAGGGGGCAGAGGTGAGGTTGATGATTTGGAGCCAAGTGATCAGGCTTCACTTCCAGCCCTGCCATGCCGTGTGTGACTTTGGCATATCATTTCCCCTCTCTGGGCTTCAGTTTCCCAACTGCAAAGAGGAAAATAACACCTGCCGAACCTCACAAGGCTTACAGTTCTTAAAAGGGTTCTGTAAACCATGGAGGGTTTTGAAGAAGTGGGTCATGGATAAGATTCCCACCTACTGGGCTCCAACCTGTGATGAAGCTGAAGAGGGACTGGATGTGGGCCCGATCCTTGAAGTAGGAGCGGCTGAGGCTGTTCCATATGACATCGGAGACCTTCTTCACCAGCTCACGGCTGGAGACACCCCCTTCTCGAGGATAGAGGGACAGGTCGACGGCGCCTCGGATCTGGGCGGTGAAGCGGGCATAGAGGGCGGCGATGATAGACAGGTCGGCCACGGGAAAGTAGGTGAGGCCGCCAGGCGGGTCGGGGGCGGGGCTGGGCTGGAAGGTGAGCTCGGGAACGTTGGTAGGGATGACGCGGTTGACAGCCAGAAAATGCTCCACGAAGCCCAGCACCAAGGAAAGGAGCACCAGGTCCGGCTCCTCTCGGCCCAGCTCGGCAGCAAACAGGCGCACCACGTCGTCGATGGAGCGCAGCGGGAACAGCGTCTTCTGGGCGGCCTTCAGCCCCATGGCGGCGGGCGGTGGGCGGCGGCCTGCAAGGCAAGCCGGGGGAGGGAGGGTCGGGCAGGTTCGGCCGGGGAGCCTCCTCCCAGGGTCCGCTAAGGTTCCACCCGCCCCGACACACGCACAGCTCCCCTGCTTCCCCACCCTCTTCAGCCTCTGCTCACCGGCTTCCCCTCTTTTGTCGGTGAGACCCCTCAGCCGAGACTGCAGAGCCTTTTTGTCCCCCACAATTCCGGGACGCCCGGTACCCGATGGGGTGCGCCCCAAGCACCCCAATGAGGAGCCCCAATGGCCGCCCCGCCCCCTCTCTACGACTGTGCCCCCGGGGCTGTAAAGTCTGTCCAGAAAGCGCACCCAGGTCAAGCCCCCAAACCCCAAGGAGAGTCCTGGCCTCGGTCCCCCTCGCCCACCTCCGCGCTTACATCCCACACTAGGCACCGCGGCGCACGCCGCCCGGAGCCTGCTGGGACATGAAGTCCCGCCCCTAGGGTCGCACTACCCGCCGGGAAGTGGAGTCTGGGCCCACCCCTGCCCCGCTGAGCCTGGAAATAGTGGCGGGCCGGGCCGCTGCGCTGTGGCTTCTGGGATCTCTAGGTCCGCGGCTCCGGACACCTCCTTCCCGAGATACTCAGGGATTGGCCCTTCCCTTCAGGCCGACCAGGCAGGAAGCGTGCCCGCAGTGCCTTCTGGAAAATGTAGTCCGGGGGCACTACCTGCAGACTCGGGGTGGGAGGTCGCCGAGCTTCTGCCGGTTTTGCTGTCACGGGTCGGTCGGCAAGTTATGAGGAAAAAGATCAGGTTGCTTGATCCAGAAAAAATTAAAATAAAACAATATGAGAAAAACAGATACTTTTAAACACTGCCAGAGAGTAAATGTGTTCAGCCGCTTTAGCTGGGTATCAGTGTCTGTTAACATATAAAGATGCCTACTCTGTGTGCAGCACTCGTTTCCCACTTCCGCCCGCGAGATACTCTAACACGTGCTAAGAGTAGCTTTTGTTTGTTTGTTTTGAGACACGGTCTTTCTCTTTCGCCCAGGCTGGAATGCAGTGGCTCGATCTGGGCTCACTGCAGCCTCGACTTCACGGGCTCAAGCGATTCTCGTGCCTCAGCCTCCCGAGTAGCTGTGATCACAGGCGTGCGCCACCACTCCCGCCTAATTTTGTGTGTATGTGCATATACATAAATATATATACATATAACACACACACACACACACACACACACACATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGCAGAGACAGGGATTCCCAGCTACTTGGGAGGCTGAGGCGCGGGGAATCCCTTGAACCTGGGAGGCGGAGGCTTCAGTGAGCCAGAATCTTGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGATTCCGTCTTAAAAAAAAGTCCCAAGTAGCTGGGATTATAGGCGTCCGCCACCACACCCAGAAAACTTTTTGTATTTTAAGTAGAGATGGGGTTTCACCATGTTGGCCAGACTGGTCTCGAACCCCTAACCTCAAGTGATCTGCCCGCCTCAGCCTCCCAAAGTGCTAAAATTACAGGCGTGAACCACCTTACCCGGCCAAAGAGTAGTTATTTGTTTATTTGTTTTGAGACAGAGTCTCGCTCTGTCACTCAGGCTGGAGTGCAGTGGGGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTTCTGCCTCAGCTTCCCAAGTAGCCGGGATTACAGGTGCCTGCCACCACAC | GGGTGGTGATGGGAAGAAAGGGGTGTGGCCCAAGAAAATGGAGTCCCTTGGGTGGCTTGGGCTACTACAGTATGAAGGGGACAAGGCTGGGGGGAGGGAACAATACCCGCTCAGCCACACCGGCATTGACTGTCTGGCCCCTGCGGTCCTCGTTGCCCTTGCCGTGCCAGGTGACCTCAGCTGTCTGCTCCCCATTGGGCCCAAACACTACCCAGGCATGATCCTCAGACAGGGCGAGGTGGACATCCCGGAGACCCAGGGCCTGGCAGGCCCCAACCACAGCAAAGGCCACACCGGAGCTGTCCAATTTGGTGCCTGTGGAAGGGGGAGGTAATGAAAGAGGGTCCTCTGTGCTTTAACATGGGGAAAGGGGGCCAGGTAGTGATGGGCCACACTCCCTCCCACTCCCTTTCCAAGCCTGTGACCCAACCTCAGATTCTCCTGCCCACTATCCCTCCATCCCTTCCCTCCCACGTGTTCAAAGACTCTCTCCCTGTTTACACCCTCTATGTCCAACAAGATACCTTTCTGGATATCCTGTAGCTGACCCAGCCTTTGGCCCTACCTCGTCTTTCTCTGCAACTCTATTATATATTCTATGGATTTAGGGATTCCATTTTACTGCACTTACTAGGTTAAAACAGGAATGGCAAAAACAGGACGCTGGCCAACACTCTCTGGCTATACACCCACCAACAAATAACCCTCATTTATCTCTGCACTCTTTTCCTGCTAAGCTGAGAAGCAGCCTCTGATTCCTTCTCAATATGGCACACCAGGATGGGATTGCCAGTCAACCGGGCTTGGTGCAAAGCTCTTTGCAAGCCCTGACTCTTAAGCCTTTTGAGGTCAAGCCCCTTCTCTGTCTCAAACATTTTTGACCAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCTCGTCTCTACTAAAAATCCAAAAAAAAATTAGCCAGGCATGGTGGCAGGCTCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGGCAGGAGAATGGCATGAAAGCAGGAGGCAGAGCTTGCAGTGAGCCGAGATTGCACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACGCCGTCTGAAAAAAAAAAAAAAATTTTCATAGGCCACCAGTTGCGGTGGCTCACACCTGTAATCCCAGCATTTGGGAGACTGAGGCGGGCAGATCACTTGAGCCCAAGAGTTCAAGACCAGTCTGGGCCACATAGTGAGACACCATCTCTACAAAAAAAATACAAAAAATTAACCAGCACCACGGTGCATGCCTGTACTCTCAGCTACTCAGGAGGCTGAGGTTGGAGGATCTCTGAGCCCAGGGAGACTGAGGCTGCAGTGAGCCATGATCACACCACTGCACTCCAGCCTGGGGGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAATCTTCATAGCCATTATTTTGTTTAACTGCCTCAAATGCAGCCCAATTTCATCTTCTTGCCCCCTAAATCTGCTGCCGCCCTCTGTGTCTCATGCTTAGAACTCCTGTAGCTGTTCAGTGGCAAGGGTGGGGGTGCTGAGGGGGCAGAGGTGAGGTTGATGATTTGGAGCCAAGTGATCAGGCTTCACTTCCAGCCCTGCCATGCCGTGTGTGACTTTGGCATATCATTTCCCCTCTCTGGGCTTCAGTTTCCCAACTGCAAAGAGGAAAATAACACCTGCCGAACCTCACAAGGCTTACAGTTCTTAAAAGGGTTCTGTAAACCATGGAGGGTTTTGAAGAAGTGGGTCATGGATAAGATTCCCACCTACTGGGCTCCAACCTGTGATGAAGCTGAAGAGGGACTGGATGTGGGCCCGATCCTTGAAGTAGGAGCGGCTGAGGCTGTTCCATATGACATCGGAGACCTTCTTCACCAGCTCACGGCTGGAGACACCCCCTTCTCGAGGATAGAGGGACAGGTCGACGGCGCCTCGGATCTGGGCGGTGAAGCATAGAGGGCGGCGATGATAGACAGGTCGGCCACGGGAAAGTAGGTGAGGCCGCCAGGCGGGTCGGGGGCGGGGCTGGGCTGGAAGGTGAGCTCGGGAACGTTGGTAGGGATGACGCGGTTGACAGCCAGAAAATGCTCCACGAAGCCCAGCACCAAGGAAAGGAGCACCAGGTCCGGCTCCTCTCGGCCCAGCTCGGCAGCAAACAGGCGCACCACGTCGTCGATGGAGCGCAGCGGGAACAGCGTCTTCTGGGCGGCCTTCAGCCCCATGGCGGCGGGCGGTGGGCGGCGGCCTGCAAGGCAAGCCGGGGGAGGGAGGGTCGGGCAGGTTCGGCCGGGGAGCCTCCTCCCAGGGTCCGCTAAGGTTCCACCCGCCCCGACACACGCACAGCTCCCCTGCTTCCCCACCCTCTTCAGCCTCTGCTCACCGGCTTCCCCTCTTTTGTCGGTGAGACCCCTCAGCCGAGACTGCAGAGCCTTTTTGTCCCCCACAATTCCGGGACGCCCGGTACCCGATGGGGTGCGCCCCAAGCACCCCAATGAGGAGCCCCAATGGCCGCCCCGCCCCCTCTCTACGACTGTGCCCCCGGGGCTGTAAAGTCTGTCCAGAAAGCGCACCCAGGTCAAGCCCCCAAACCCCAAGGAGAGTCCTGGCCTCGGTCCCCCTCGCCCACCTCCGCGCTTACATCCCACACTAGGCACCGCGGCGCACGCCGCCCGGAGCCTGCTGGGACATGAAGTCCCGCCCCTAGGGTCGCACTACCCGCCGGGAAGTGGAGTCTGGGCCCACCCCTGCCCCGCTGAGCCTGGAAATAGTGGCGGGCCGGGCCGCTGCGCTGTGGCTTCTGGGATCTCTAGGTCCGCGGCTCCGGACACCTCCTTCCCGAGATACTCAGGGATTGGCCCTTCCCTTCAGGCCGACCAGGCAGGAAGCGTGCCCGCAGTGCCTTCTGGAAAATGTAGTCCGGGGGCACTACCTGCAGACTCGGGGTGGGAGGTCGCCGAGCTTCTGCCGGTTTTGCTGTCACGGGTCGGTCGGCAAGTTATGAGGAAAAAGATCAGGTTGCTTGATCCAGAAAAAATTAAAATAAAACAATATGAGAAAAACAGATACTTTTAAACACTGCCAGAGAGTAAATGTGTTCAGCCGCTTTAGCTGGGTATCAGTGTCTGTTAACATATAAAGATGCCTACTCTGTGTGCAGCACTCGTTTCCCACTTCCGCCCGCGAGATACTCTAACACGTGCTAAGAGTAGCTTTTGTTTGTTTGTTTTGAGACACGGTCTTTCTCTTTCGCCCAGGCTGGAATGCAGTGGCTCGATCTGGGCTCACTGCAGCCTCGACTTCACGGGCTCAAGCGATTCTCGTGCCTCAGCCTCCCGAGTAGCTGTGATCACAGGCGTGCGCCACCACTCCCGCCTAATTTTGTGTGTATGTGCATATACATAAATATATATACATATAACACACACACACACACACACACACACACATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGCAGAGACAGGGATTCCCAGCTACTTGGGAGGCTGAGGCGCGGGGAATCCCTTGAACCTGGGAGGCGGAGGCTTCAGTGAGCCAGAATCTTGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGATTCCGTCTTAAAAAAAAGTCCCAAGTAGCTGGGATTATAGGCGTCCGCCACCACACCCAGAAAACTTTTTGTATTTTAAGTAGAGATGGGGTTTCACCATGTTGGCCAGACTGGTCTCGAACCCCTAACCTCAAGTGATCTGCCCGCCTCAGCCTCCCAAAGTGCTAAAATTACAGGCGTGAACCACCTTACCCGGCCAAAGAGTAGTTATTTGTTTATTTGTTTTGAGACAGAGTCTCGCTCTGTCACTCAGGCTGGAGTGCAGTGGGGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTTCTGCCTCAGCTTCCCAAGTAGCCGGGATTACAGGTGCCTGCCACCACACNNNN | pathogenic | 178,056 |
A genetic alteration at chromosome 11, position 64809835, in gene MEN1 (menin 1)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Multiple_endocrine_neoplasia,_type_1'] | GTGGTGATGGGAAGAAAGGGGTGTGGCCCAAGAAAATGGAGTCCCTTGGGTGGCTTGGGCTACTACAGTATGAAGGGGACAAGGCTGGGGGGAGGGAACAATACCCGCTCAGCCACACCGGCATTGACTGTCTGGCCCCTGCGGTCCTCGTTGCCCTTGCCGTGCCAGGTGACCTCAGCTGTCTGCTCCCCATTGGGCCCAAACACTACCCAGGCATGATCCTCAGACAGGGCGAGGTGGACATCCCGGAGACCCAGGGCCTGGCAGGCCCCAACCACAGCAAAGGCCACACCGGAGCTGTCCAATTTGGTGCCTGTGGAAGGGGGAGGTAATGAAAGAGGGTCCTCTGTGCTTTAACATGGGGAAAGGGGGCCAGGTAGTGATGGGCCACACTCCCTCCCACTCCCTTTCCAAGCCTGTGACCCAACCTCAGATTCTCCTGCCCACTATCCCTCCATCCCTTCCCTCCCACGTGTTCAAAGACTCTCTCCCTGTTTACACCCTCTATGTCCAACAAGATACCTTTCTGGATATCCTGTAGCTGACCCAGCCTTTGGCCCTACCTCGTCTTTCTCTGCAACTCTATTATATATTCTATGGATTTAGGGATTCCATTTTACTGCACTTACTAGGTTAAAACAGGAATGGCAAAAACAGGACGCTGGCCAACACTCTCTGGCTATACACCCACCAACAAATAACCCTCATTTATCTCTGCACTCTTTTCCTGCTAAGCTGAGAAGCAGCCTCTGATTCCTTCTCAATATGGCACACCAGGATGGGATTGCCAGTCAACCGGGCTTGGTGCAAAGCTCTTTGCAAGCCCTGACTCTTAAGCCTTTTGAGGTCAAGCCCCTTCTCTGTCTCAAACATTTTTGACCAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCTCGTCTCTACTAAAAATCCAAAAAAAAATTAGCCAGGCATGGTGGCAGGCTCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGGCAGGAGAATGGCATGAAAGCAGGAGGCAGAGCTTGCAGTGAGCCGAGATTGCACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACGCCGTCTGAAAAAAAAAAAAAAATTTTCATAGGCCACCAGTTGCGGTGGCTCACACCTGTAATCCCAGCATTTGGGAGACTGAGGCGGGCAGATCACTTGAGCCCAAGAGTTCAAGACCAGTCTGGGCCACATAGTGAGACACCATCTCTACAAAAAAAATACAAAAAATTAACCAGCACCACGGTGCATGCCTGTACTCTCAGCTACTCAGGAGGCTGAGGTTGGAGGATCTCTGAGCCCAGGGAGACTGAGGCTGCAGTGAGCCATGATCACACCACTGCACTCCAGCCTGGGGGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAATCTTCATAGCCATTATTTTGTTTAACTGCCTCAAATGCAGCCCAATTTCATCTTCTTGCCCCCTAAATCTGCTGCCGCCCTCTGTGTCTCATGCTTAGAACTCCTGTAGCTGTTCAGTGGCAAGGGTGGGGGTGCTGAGGGGGCAGAGGTGAGGTTGATGATTTGGAGCCAAGTGATCAGGCTTCACTTCCAGCCCTGCCATGCCGTGTGTGACTTTGGCATATCATTTCCCCTCTCTGGGCTTCAGTTTCCCAACTGCAAAGAGGAAAATAACACCTGCCGAACCTCACAAGGCTTACAGTTCTTAAAAGGGTTCTGTAAACCATGGAGGGTTTTGAAGAAGTGGGTCATGGATAAGATTCCCACCTACTGGGCTCCAACCTGTGATGAAGCTGAAGAGGGACTGGATGTGGGCCCGATCCTTGAAGTAGGAGCGGCTGAGGCTGTTCCATATGACATCGGAGACCTTCTTCACCAGCTCACGGCTGGAGACACCCCCTTCTCGAGGATAGAGGGACAGGTCGACGGCGCCTCGGATCTGGGCGGTGAAGCGGGCATAGAGGGCGGCGATGATAGACAGGTCGGCCACGGGAAAGTAGGTGAGGCCGCCAGGCGGGTCGGGGGCGGGGCTGGGCTGGAAGGTGAGCTCGGGAACGTTGGTAGGGATGACGCGGTTGACAGCCAGAAAATGCTCCACGAAGCCCAGCACCAAGGAAAGGAGCACCAGGTCCGGCTCCTCTCGGCCCAGCTCGGCAGCAAACAGGCGCACCACGTCGTCGATGGAGCGCAGCGGGAACAGCGTCTTCTGGGCGGCCTTCAGCCCCATGGCGGCGGGCGGTGGGCGGCGGCCTGCAAGGCAAGCCGGGGGAGGGAGGGTCGGGCAGGTTCGGCCGGGGAGCCTCCTCCCAGGGTCCGCTAAGGTTCCACCCGCCCCGACACACGCACAGCTCCCCTGCTTCCCCACCCTCTTCAGCCTCTGCTCACCGGCTTCCCCTCTTTTGTCGGTGAGACCCCTCAGCCGAGACTGCAGAGCCTTTTTGTCCCCCACAATTCCGGGACGCCCGGTACCCGATGGGGTGCGCCCCAAGCACCCCAATGAGGAGCCCCAATGGCCGCCCCGCCCCCTCTCTACGACTGTGCCCCCGGGGCTGTAAAGTCTGTCCAGAAAGCGCACCCAGGTCAAGCCCCCAAACCCCAAGGAGAGTCCTGGCCTCGGTCCCCCTCGCCCACCTCCGCGCTTACATCCCACACTAGGCACCGCGGCGCACGCCGCCCGGAGCCTGCTGGGACATGAAGTCCCGCCCCTAGGGTCGCACTACCCGCCGGGAAGTGGAGTCTGGGCCCACCCCTGCCCCGCTGAGCCTGGAAATAGTGGCGGGCCGGGCCGCTGCGCTGTGGCTTCTGGGATCTCTAGGTCCGCGGCTCCGGACACCTCCTTCCCGAGATACTCAGGGATTGGCCCTTCCCTTCAGGCCGACCAGGCAGGAAGCGTGCCCGCAGTGCCTTCTGGAAAATGTAGTCCGGGGGCACTACCTGCAGACTCGGGGTGGGAGGTCGCCGAGCTTCTGCCGGTTTTGCTGTCACGGGTCGGTCGGCAAGTTATGAGGAAAAAGATCAGGTTGCTTGATCCAGAAAAAATTAAAATAAAACAATATGAGAAAAACAGATACTTTTAAACACTGCCAGAGAGTAAATGTGTTCAGCCGCTTTAGCTGGGTATCAGTGTCTGTTAACATATAAAGATGCCTACTCTGTGTGCAGCACTCGTTTCCCACTTCCGCCCGCGAGATACTCTAACACGTGCTAAGAGTAGCTTTTGTTTGTTTGTTTTGAGACACGGTCTTTCTCTTTCGCCCAGGCTGGAATGCAGTGGCTCGATCTGGGCTCACTGCAGCCTCGACTTCACGGGCTCAAGCGATTCTCGTGCCTCAGCCTCCCGAGTAGCTGTGATCACAGGCGTGCGCCACCACTCCCGCCTAATTTTGTGTGTATGTGCATATACATAAATATATATACATATAACACACACACACACACACACACACACACATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGCAGAGACAGGGATTCCCAGCTACTTGGGAGGCTGAGGCGCGGGGAATCCCTTGAACCTGGGAGGCGGAGGCTTCAGTGAGCCAGAATCTTGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGATTCCGTCTTAAAAAAAAGTCCCAAGTAGCTGGGATTATAGGCGTCCGCCACCACACCCAGAAAACTTTTTGTATTTTAAGTAGAGATGGGGTTTCACCATGTTGGCCAGACTGGTCTCGAACCCCTAACCTCAAGTGATCTGCCCGCCTCAGCCTCCCAAAGTGCTAAAATTACAGGCGTGAACCACCTTACCCGGCCAAAGAGTAGTTATTTGTTTATTTGTTTTGAGACAGAGTCTCGCTCTGTCACTCAGGCTGGAGTGCAGTGGGGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTTCTGCCTCAGCTTCCCAAGTAGCCGGGATTACAGGTGCCTGCCACCACACTT | GTGGTGATGGGAAGAAAGGGGTGTGGCCCAAGAAAATGGAGTCCCTTGGGTGGCTTGGGCTACTACAGTATGAAGGGGACAAGGCTGGGGGGAGGGAACAATACCCGCTCAGCCACACCGGCATTGACTGTCTGGCCCCTGCGGTCCTCGTTGCCCTTGCCGTGCCAGGTGACCTCAGCTGTCTGCTCCCCATTGGGCCCAAACACTACCCAGGCATGATCCTCAGACAGGGCGAGGTGGACATCCCGGAGACCCAGGGCCTGGCAGGCCCCAACCACAGCAAAGGCCACACCGGAGCTGTCCAATTTGGTGCCTGTGGAAGGGGGAGGTAATGAAAGAGGGTCCTCTGTGCTTTAACATGGGGAAAGGGGGCCAGGTAGTGATGGGCCACACTCCCTCCCACTCCCTTTCCAAGCCTGTGACCCAACCTCAGATTCTCCTGCCCACTATCCCTCCATCCCTTCCCTCCCACGTGTTCAAAGACTCTCTCCCTGTTTACACCCTCTATGTCCAACAAGATACCTTTCTGGATATCCTGTAGCTGACCCAGCCTTTGGCCCTACCTCGTCTTTCTCTGCAACTCTATTATATATTCTATGGATTTAGGGATTCCATTTTACTGCACTTACTAGGTTAAAACAGGAATGGCAAAAACAGGACGCTGGCCAACACTCTCTGGCTATACACCCACCAACAAATAACCCTCATTTATCTCTGCACTCTTTTCCTGCTAAGCTGAGAAGCAGCCTCTGATTCCTTCTCAATATGGCACACCAGGATGGGATTGCCAGTCAACCGGGCTTGGTGCAAAGCTCTTTGCAAGCCCTGACTCTTAAGCCTTTTGAGGTCAAGCCCCTTCTCTGTCTCAAACATTTTTGACCAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCTCGTCTCTACTAAAAATCCAAAAAAAAATTAGCCAGGCATGGTGGCAGGCTCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGGCAGGAGAATGGCATGAAAGCAGGAGGCAGAGCTTGCAGTGAGCCGAGATTGCACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACGCCGTCTGAAAAAAAAAAAAAAATTTTCATAGGCCACCAGTTGCGGTGGCTCACACCTGTAATCCCAGCATTTGGGAGACTGAGGCGGGCAGATCACTTGAGCCCAAGAGTTCAAGACCAGTCTGGGCCACATAGTGAGACACCATCTCTACAAAAAAAATACAAAAAATTAACCAGCACCACGGTGCATGCCTGTACTCTCAGCTACTCAGGAGGCTGAGGTTGGAGGATCTCTGAGCCCAGGGAGACTGAGGCTGCAGTGAGCCATGATCACACCACTGCACTCCAGCCTGGGGGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAATCTTCATAGCCATTATTTTGTTTAACTGCCTCAAATGCAGCCCAATTTCATCTTCTTGCCCCCTAAATCTGCTGCCGCCCTCTGTGTCTCATGCTTAGAACTCCTGTAGCTGTTCAGTGGCAAGGGTGGGGGTGCTGAGGGGGCAGAGGTGAGGTTGATGATTTGGAGCCAAGTGATCAGGCTTCACTTCCAGCCCTGCCATGCCGTGTGTGACTTTGGCATATCATTTCCCCTCTCTGGGCTTCAGTTTCCCAACTGCAAAGAGGAAAATAACACCTGCCGAACCTCACAAGGCTTACAGTTCTTAAAAGGGTTCTGTAAACCATGGAGGGTTTTGAAGAAGTGGGTCATGGATAAGATTCCCACCTACTGGGCTCCAACCTGTGATGAAGCTGAAGAGGGACTGGATGTGGGCCCGATCCTTGAAGTAGGAGCGGCTGAGGCTGTTCCATATGACATCGGAGACCTTCTTCACCAGCTCACGGCTGGAGACACCCCCTTCTCGAGGATAGAGGGACAGGTCGACGGCGCCTCGGATCTGGGCGGTGAAGCGGCATAGAGGGCGGCGATGATAGACAGGTCGGCCACGGGAAAGTAGGTGAGGCCGCCAGGCGGGTCGGGGGCGGGGCTGGGCTGGAAGGTGAGCTCGGGAACGTTGGTAGGGATGACGCGGTTGACAGCCAGAAAATGCTCCACGAAGCCCAGCACCAAGGAAAGGAGCACCAGGTCCGGCTCCTCTCGGCCCAGCTCGGCAGCAAACAGGCGCACCACGTCGTCGATGGAGCGCAGCGGGAACAGCGTCTTCTGGGCGGCCTTCAGCCCCATGGCGGCGGGCGGTGGGCGGCGGCCTGCAAGGCAAGCCGGGGGAGGGAGGGTCGGGCAGGTTCGGCCGGGGAGCCTCCTCCCAGGGTCCGCTAAGGTTCCACCCGCCCCGACACACGCACAGCTCCCCTGCTTCCCCACCCTCTTCAGCCTCTGCTCACCGGCTTCCCCTCTTTTGTCGGTGAGACCCCTCAGCCGAGACTGCAGAGCCTTTTTGTCCCCCACAATTCCGGGACGCCCGGTACCCGATGGGGTGCGCCCCAAGCACCCCAATGAGGAGCCCCAATGGCCGCCCCGCCCCCTCTCTACGACTGTGCCCCCGGGGCTGTAAAGTCTGTCCAGAAAGCGCACCCAGGTCAAGCCCCCAAACCCCAAGGAGAGTCCTGGCCTCGGTCCCCCTCGCCCACCTCCGCGCTTACATCCCACACTAGGCACCGCGGCGCACGCCGCCCGGAGCCTGCTGGGACATGAAGTCCCGCCCCTAGGGTCGCACTACCCGCCGGGAAGTGGAGTCTGGGCCCACCCCTGCCCCGCTGAGCCTGGAAATAGTGGCGGGCCGGGCCGCTGCGCTGTGGCTTCTGGGATCTCTAGGTCCGCGGCTCCGGACACCTCCTTCCCGAGATACTCAGGGATTGGCCCTTCCCTTCAGGCCGACCAGGCAGGAAGCGTGCCCGCAGTGCCTTCTGGAAAATGTAGTCCGGGGGCACTACCTGCAGACTCGGGGTGGGAGGTCGCCGAGCTTCTGCCGGTTTTGCTGTCACGGGTCGGTCGGCAAGTTATGAGGAAAAAGATCAGGTTGCTTGATCCAGAAAAAATTAAAATAAAACAATATGAGAAAAACAGATACTTTTAAACACTGCCAGAGAGTAAATGTGTTCAGCCGCTTTAGCTGGGTATCAGTGTCTGTTAACATATAAAGATGCCTACTCTGTGTGCAGCACTCGTTTCCCACTTCCGCCCGCGAGATACTCTAACACGTGCTAAGAGTAGCTTTTGTTTGTTTGTTTTGAGACACGGTCTTTCTCTTTCGCCCAGGCTGGAATGCAGTGGCTCGATCTGGGCTCACTGCAGCCTCGACTTCACGGGCTCAAGCGATTCTCGTGCCTCAGCCTCCCGAGTAGCTGTGATCACAGGCGTGCGCCACCACTCCCGCCTAATTTTGTGTGTATGTGCATATACATAAATATATATACATATAACACACACACACACACACACACACACACATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGCAGAGACAGGGATTCCCAGCTACTTGGGAGGCTGAGGCGCGGGGAATCCCTTGAACCTGGGAGGCGGAGGCTTCAGTGAGCCAGAATCTTGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGATTCCGTCTTAAAAAAAAGTCCCAAGTAGCTGGGATTATAGGCGTCCGCCACCACACCCAGAAAACTTTTTGTATTTTAAGTAGAGATGGGGTTTCACCATGTTGGCCAGACTGGTCTCGAACCCCTAACCTCAAGTGATCTGCCCGCCTCAGCCTCCCAAAGTGCTAAAATTACAGGCGTGAACCACCTTACCCGGCCAAAGAGTAGTTATTTGTTTATTTGTTTTGAGACAGAGTCTCGCTCTGTCACTCAGGCTGGAGTGCAGTGGGGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTTCTGCCTCAGCTTCCCAAGTAGCCGGGATTACAGGTGCCTGCCACCACACTTN | pathogenic | 178,057 |
Mutation found at chromosome 11 position 64809857, gene MEN1 (menin 1): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Multiple_endocrine_neoplasia,_type_1'] | GTGGCCCAAGAAAATGGAGTCCCTTGGGTGGCTTGGGCTACTACAGTATGAAGGGGACAAGGCTGGGGGGAGGGAACAATACCCGCTCAGCCACACCGGCATTGACTGTCTGGCCCCTGCGGTCCTCGTTGCCCTTGCCGTGCCAGGTGACCTCAGCTGTCTGCTCCCCATTGGGCCCAAACACTACCCAGGCATGATCCTCAGACAGGGCGAGGTGGACATCCCGGAGACCCAGGGCCTGGCAGGCCCCAACCACAGCAAAGGCCACACCGGAGCTGTCCAATTTGGTGCCTGTGGAAGGGGGAGGTAATGAAAGAGGGTCCTCTGTGCTTTAACATGGGGAAAGGGGGCCAGGTAGTGATGGGCCACACTCCCTCCCACTCCCTTTCCAAGCCTGTGACCCAACCTCAGATTCTCCTGCCCACTATCCCTCCATCCCTTCCCTCCCACGTGTTCAAAGACTCTCTCCCTGTTTACACCCTCTATGTCCAACAAGATACCTTTCTGGATATCCTGTAGCTGACCCAGCCTTTGGCCCTACCTCGTCTTTCTCTGCAACTCTATTATATATTCTATGGATTTAGGGATTCCATTTTACTGCACTTACTAGGTTAAAACAGGAATGGCAAAAACAGGACGCTGGCCAACACTCTCTGGCTATACACCCACCAACAAATAACCCTCATTTATCTCTGCACTCTTTTCCTGCTAAGCTGAGAAGCAGCCTCTGATTCCTTCTCAATATGGCACACCAGGATGGGATTGCCAGTCAACCGGGCTTGGTGCAAAGCTCTTTGCAAGCCCTGACTCTTAAGCCTTTTGAGGTCAAGCCCCTTCTCTGTCTCAAACATTTTTGACCAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCTCGTCTCTACTAAAAATCCAAAAAAAAATTAGCCAGGCATGGTGGCAGGCTCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGGCAGGAGAATGGCATGAAAGCAGGAGGCAGAGCTTGCAGTGAGCCGAGATTGCACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACGCCGTCTGAAAAAAAAAAAAAAATTTTCATAGGCCACCAGTTGCGGTGGCTCACACCTGTAATCCCAGCATTTGGGAGACTGAGGCGGGCAGATCACTTGAGCCCAAGAGTTCAAGACCAGTCTGGGCCACATAGTGAGACACCATCTCTACAAAAAAAATACAAAAAATTAACCAGCACCACGGTGCATGCCTGTACTCTCAGCTACTCAGGAGGCTGAGGTTGGAGGATCTCTGAGCCCAGGGAGACTGAGGCTGCAGTGAGCCATGATCACACCACTGCACTCCAGCCTGGGGGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAATCTTCATAGCCATTATTTTGTTTAACTGCCTCAAATGCAGCCCAATTTCATCTTCTTGCCCCCTAAATCTGCTGCCGCCCTCTGTGTCTCATGCTTAGAACTCCTGTAGCTGTTCAGTGGCAAGGGTGGGGGTGCTGAGGGGGCAGAGGTGAGGTTGATGATTTGGAGCCAAGTGATCAGGCTTCACTTCCAGCCCTGCCATGCCGTGTGTGACTTTGGCATATCATTTCCCCTCTCTGGGCTTCAGTTTCCCAACTGCAAAGAGGAAAATAACACCTGCCGAACCTCACAAGGCTTACAGTTCTTAAAAGGGTTCTGTAAACCATGGAGGGTTTTGAAGAAGTGGGTCATGGATAAGATTCCCACCTACTGGGCTCCAACCTGTGATGAAGCTGAAGAGGGACTGGATGTGGGCCCGATCCTTGAAGTAGGAGCGGCTGAGGCTGTTCCATATGACATCGGAGACCTTCTTCACCAGCTCACGGCTGGAGACACCCCCTTCTCGAGGATAGAGGGACAGGTCGACGGCGCCTCGGATCTGGGCGGTGAAGCGGGCATAGAGGGCGGCGATGATAGACAGGTCGGCCACGGGAAAGTAGGTGAGGCCGCCAGGCGGGTCGGGGGCGGGGCTGGGCTGGAAGGTGAGCTCGGGAACGTTGGTAGGGATGACGCGGTTGACAGCCAGAAAATGCTCCACGAAGCCCAGCACCAAGGAAAGGAGCACCAGGTCCGGCTCCTCTCGGCCCAGCTCGGCAGCAAACAGGCGCACCACGTCGTCGATGGAGCGCAGCGGGAACAGCGTCTTCTGGGCGGCCTTCAGCCCCATGGCGGCGGGCGGTGGGCGGCGGCCTGCAAGGCAAGCCGGGGGAGGGAGGGTCGGGCAGGTTCGGCCGGGGAGCCTCCTCCCAGGGTCCGCTAAGGTTCCACCCGCCCCGACACACGCACAGCTCCCCTGCTTCCCCACCCTCTTCAGCCTCTGCTCACCGGCTTCCCCTCTTTTGTCGGTGAGACCCCTCAGCCGAGACTGCAGAGCCTTTTTGTCCCCCACAATTCCGGGACGCCCGGTACCCGATGGGGTGCGCCCCAAGCACCCCAATGAGGAGCCCCAATGGCCGCCCCGCCCCCTCTCTACGACTGTGCCCCCGGGGCTGTAAAGTCTGTCCAGAAAGCGCACCCAGGTCAAGCCCCCAAACCCCAAGGAGAGTCCTGGCCTCGGTCCCCCTCGCCCACCTCCGCGCTTACATCCCACACTAGGCACCGCGGCGCACGCCGCCCGGAGCCTGCTGGGACATGAAGTCCCGCCCCTAGGGTCGCACTACCCGCCGGGAAGTGGAGTCTGGGCCCACCCCTGCCCCGCTGAGCCTGGAAATAGTGGCGGGCCGGGCCGCTGCGCTGTGGCTTCTGGGATCTCTAGGTCCGCGGCTCCGGACACCTCCTTCCCGAGATACTCAGGGATTGGCCCTTCCCTTCAGGCCGACCAGGCAGGAAGCGTGCCCGCAGTGCCTTCTGGAAAATGTAGTCCGGGGGCACTACCTGCAGACTCGGGGTGGGAGGTCGCCGAGCTTCTGCCGGTTTTGCTGTCACGGGTCGGTCGGCAAGTTATGAGGAAAAAGATCAGGTTGCTTGATCCAGAAAAAATTAAAATAAAACAATATGAGAAAAACAGATACTTTTAAACACTGCCAGAGAGTAAATGTGTTCAGCCGCTTTAGCTGGGTATCAGTGTCTGTTAACATATAAAGATGCCTACTCTGTGTGCAGCACTCGTTTCCCACTTCCGCCCGCGAGATACTCTAACACGTGCTAAGAGTAGCTTTTGTTTGTTTGTTTTGAGACACGGTCTTTCTCTTTCGCCCAGGCTGGAATGCAGTGGCTCGATCTGGGCTCACTGCAGCCTCGACTTCACGGGCTCAAGCGATTCTCGTGCCTCAGCCTCCCGAGTAGCTGTGATCACAGGCGTGCGCCACCACTCCCGCCTAATTTTGTGTGTATGTGCATATACATAAATATATATACATATAACACACACACACACACACACACACACACATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGCAGAGACAGGGATTCCCAGCTACTTGGGAGGCTGAGGCGCGGGGAATCCCTTGAACCTGGGAGGCGGAGGCTTCAGTGAGCCAGAATCTTGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGATTCCGTCTTAAAAAAAAGTCCCAAGTAGCTGGGATTATAGGCGTCCGCCACCACACCCAGAAAACTTTTTGTATTTTAAGTAGAGATGGGGTTTCACCATGTTGGCCAGACTGGTCTCGAACCCCTAACCTCAAGTGATCTGCCCGCCTCAGCCTCCCAAAGTGCTAAAATTACAGGCGTGAACCACCTTACCCGGCCAAAGAGTAGTTATTTGTTTATTTGTTTTGAGACAGAGTCTCGCTCTGTCACTCAGGCTGGAGTGCAGTGGGGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTTCTGCCTCAGCTTCCCAAGTAGCCGGGATTACAGGTGCCTGCCACCACACTTGGCTAATTTTTGTATTTTACTT | GTGGCCCAAGAAAATGGAGTCCCTTGGGTGGCTTGGGCTACTACAGTATGAAGGGGACAAGGCTGGGGGGAGGGAACAATACCCGCTCAGCCACACCGGCATTGACTGTCTGGCCCCTGCGGTCCTCGTTGCCCTTGCCGTGCCAGGTGACCTCAGCTGTCTGCTCCCCATTGGGCCCAAACACTACCCAGGCATGATCCTCAGACAGGGCGAGGTGGACATCCCGGAGACCCAGGGCCTGGCAGGCCCCAACCACAGCAAAGGCCACACCGGAGCTGTCCAATTTGGTGCCTGTGGAAGGGGGAGGTAATGAAAGAGGGTCCTCTGTGCTTTAACATGGGGAAAGGGGGCCAGGTAGTGATGGGCCACACTCCCTCCCACTCCCTTTCCAAGCCTGTGACCCAACCTCAGATTCTCCTGCCCACTATCCCTCCATCCCTTCCCTCCCACGTGTTCAAAGACTCTCTCCCTGTTTACACCCTCTATGTCCAACAAGATACCTTTCTGGATATCCTGTAGCTGACCCAGCCTTTGGCCCTACCTCGTCTTTCTCTGCAACTCTATTATATATTCTATGGATTTAGGGATTCCATTTTACTGCACTTACTAGGTTAAAACAGGAATGGCAAAAACAGGACGCTGGCCAACACTCTCTGGCTATACACCCACCAACAAATAACCCTCATTTATCTCTGCACTCTTTTCCTGCTAAGCTGAGAAGCAGCCTCTGATTCCTTCTCAATATGGCACACCAGGATGGGATTGCCAGTCAACCGGGCTTGGTGCAAAGCTCTTTGCAAGCCCTGACTCTTAAGCCTTTTGAGGTCAAGCCCCTTCTCTGTCTCAAACATTTTTGACCAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCTCGTCTCTACTAAAAATCCAAAAAAAAATTAGCCAGGCATGGTGGCAGGCTCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGGCAGGAGAATGGCATGAAAGCAGGAGGCAGAGCTTGCAGTGAGCCGAGATTGCACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACGCCGTCTGAAAAAAAAAAAAAAATTTTCATAGGCCACCAGTTGCGGTGGCTCACACCTGTAATCCCAGCATTTGGGAGACTGAGGCGGGCAGATCACTTGAGCCCAAGAGTTCAAGACCAGTCTGGGCCACATAGTGAGACACCATCTCTACAAAAAAAATACAAAAAATTAACCAGCACCACGGTGCATGCCTGTACTCTCAGCTACTCAGGAGGCTGAGGTTGGAGGATCTCTGAGCCCAGGGAGACTGAGGCTGCAGTGAGCCATGATCACACCACTGCACTCCAGCCTGGGGGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAATCTTCATAGCCATTATTTTGTTTAACTGCCTCAAATGCAGCCCAATTTCATCTTCTTGCCCCCTAAATCTGCTGCCGCCCTCTGTGTCTCATGCTTAGAACTCCTGTAGCTGTTCAGTGGCAAGGGTGGGGGTGCTGAGGGGGCAGAGGTGAGGTTGATGATTTGGAGCCAAGTGATCAGGCTTCACTTCCAGCCCTGCCATGCCGTGTGTGACTTTGGCATATCATTTCCCCTCTCTGGGCTTCAGTTTCCCAACTGCAAAGAGGAAAATAACACCTGCCGAACCTCACAAGGCTTACAGTTCTTAAAAGGGTTCTGTAAACCATGGAGGGTTTTGAAGAAGTGGGTCATGGATAAGATTCCCACCTACTGGGCTCCAACCTGTGATGAAGCTGAAGAGGGACTGGATGTGGGCCCGATCCTTGAAGTAGGAGCGGCTGAGGCTGTTCCATATGACATCGGAGACCTTCTTCACCAGCTCACGGCTGGAGACACCCCCTTCTCGAGGATAGAGGGACAGGTCGACGGCGCCTCGGATCTGGGCGGTGAAGCGGGCATAGAGGGCGGCGATGATAAGACAGGTCGGCCACGGGAAAGTAGGTGAGGCCGCCAGGCGGGTCGGGGGCGGGGCTGGGCTGGAAGGTGAGCTCGGGAACGTTGGTAGGGATGACGCGGTTGACAGCCAGAAAATGCTCCACGAAGCCCAGCACCAAGGAAAGGAGCACCAGGTCCGGCTCCTCTCGGCCCAGCTCGGCAGCAAACAGGCGCACCACGTCGTCGATGGAGCGCAGCGGGAACAGCGTCTTCTGGGCGGCCTTCAGCCCCATGGCGGCGGGCGGTGGGCGGCGGCCTGCAAGGCAAGCCGGGGGAGGGAGGGTCGGGCAGGTTCGGCCGGGGAGCCTCCTCCCAGGGTCCGCTAAGGTTCCACCCGCCCCGACACACGCACAGCTCCCCTGCTTCCCCACCCTCTTCAGCCTCTGCTCACCGGCTTCCCCTCTTTTGTCGGTGAGACCCCTCAGCCGAGACTGCAGAGCCTTTTTGTCCCCCACAATTCCGGGACGCCCGGTACCCGATGGGGTGCGCCCCAAGCACCCCAATGAGGAGCCCCAATGGCCGCCCCGCCCCCTCTCTACGACTGTGCCCCCGGGGCTGTAAAGTCTGTCCAGAAAGCGCACCCAGGTCAAGCCCCCAAACCCCAAGGAGAGTCCTGGCCTCGGTCCCCCTCGCCCACCTCCGCGCTTACATCCCACACTAGGCACCGCGGCGCACGCCGCCCGGAGCCTGCTGGGACATGAAGTCCCGCCCCTAGGGTCGCACTACCCGCCGGGAAGTGGAGTCTGGGCCCACCCCTGCCCCGCTGAGCCTGGAAATAGTGGCGGGCCGGGCCGCTGCGCTGTGGCTTCTGGGATCTCTAGGTCCGCGGCTCCGGACACCTCCTTCCCGAGATACTCAGGGATTGGCCCTTCCCTTCAGGCCGACCAGGCAGGAAGCGTGCCCGCAGTGCCTTCTGGAAAATGTAGTCCGGGGGCACTACCTGCAGACTCGGGGTGGGAGGTCGCCGAGCTTCTGCCGGTTTTGCTGTCACGGGTCGGTCGGCAAGTTATGAGGAAAAAGATCAGGTTGCTTGATCCAGAAAAAATTAAAATAAAACAATATGAGAAAAACAGATACTTTTAAACACTGCCAGAGAGTAAATGTGTTCAGCCGCTTTAGCTGGGTATCAGTGTCTGTTAACATATAAAGATGCCTACTCTGTGTGCAGCACTCGTTTCCCACTTCCGCCCGCGAGATACTCTAACACGTGCTAAGAGTAGCTTTTGTTTGTTTGTTTTGAGACACGGTCTTTCTCTTTCGCCCAGGCTGGAATGCAGTGGCTCGATCTGGGCTCACTGCAGCCTCGACTTCACGGGCTCAAGCGATTCTCGTGCCTCAGCCTCCCGAGTAGCTGTGATCACAGGCGTGCGCCACCACTCCCGCCTAATTTTGTGTGTATGTGCATATACATAAATATATATACATATAACACACACACACACACACACACACACACATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGCAGAGACAGGGATTCCCAGCTACTTGGGAGGCTGAGGCGCGGGGAATCCCTTGAACCTGGGAGGCGGAGGCTTCAGTGAGCCAGAATCTTGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGATTCCGTCTTAAAAAAAAGTCCCAAGTAGCTGGGATTATAGGCGTCCGCCACCACACCCAGAAAACTTTTTGTATTTTAAGTAGAGATGGGGTTTCACCATGTTGGCCAGACTGGTCTCGAACCCCTAACCTCAAGTGATCTGCCCGCCTCAGCCTCCCAAAGTGCTAAAATTACAGGCGTGAACCACCTTACCCGGCCAAAGAGTAGTTATTTGTTTATTTGTTTTGAGACAGAGTCTCGCTCTGTCACTCAGGCTGGAGTGCAGTGGGGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTTCTGCCTCAGCTTCCCAAGTAGCCGGGATTACAGGTGCCTGCCACCACACTTGGCTAATTTTTGTATTTTACT | pathogenic | 178,061 |
The mutation in gene MEN1 (menin 1) at chromosome 11, position 64809857—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Lipoma,_somatic', 'Multiple_endocrine_neoplasia,_type_1'] | GTGGCCCAAGAAAATGGAGTCCCTTGGGTGGCTTGGGCTACTACAGTATGAAGGGGACAAGGCTGGGGGGAGGGAACAATACCCGCTCAGCCACACCGGCATTGACTGTCTGGCCCCTGCGGTCCTCGTTGCCCTTGCCGTGCCAGGTGACCTCAGCTGTCTGCTCCCCATTGGGCCCAAACACTACCCAGGCATGATCCTCAGACAGGGCGAGGTGGACATCCCGGAGACCCAGGGCCTGGCAGGCCCCAACCACAGCAAAGGCCACACCGGAGCTGTCCAATTTGGTGCCTGTGGAAGGGGGAGGTAATGAAAGAGGGTCCTCTGTGCTTTAACATGGGGAAAGGGGGCCAGGTAGTGATGGGCCACACTCCCTCCCACTCCCTTTCCAAGCCTGTGACCCAACCTCAGATTCTCCTGCCCACTATCCCTCCATCCCTTCCCTCCCACGTGTTCAAAGACTCTCTCCCTGTTTACACCCTCTATGTCCAACAAGATACCTTTCTGGATATCCTGTAGCTGACCCAGCCTTTGGCCCTACCTCGTCTTTCTCTGCAACTCTATTATATATTCTATGGATTTAGGGATTCCATTTTACTGCACTTACTAGGTTAAAACAGGAATGGCAAAAACAGGACGCTGGCCAACACTCTCTGGCTATACACCCACCAACAAATAACCCTCATTTATCTCTGCACTCTTTTCCTGCTAAGCTGAGAAGCAGCCTCTGATTCCTTCTCAATATGGCACACCAGGATGGGATTGCCAGTCAACCGGGCTTGGTGCAAAGCTCTTTGCAAGCCCTGACTCTTAAGCCTTTTGAGGTCAAGCCCCTTCTCTGTCTCAAACATTTTTGACCAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCTCGTCTCTACTAAAAATCCAAAAAAAAATTAGCCAGGCATGGTGGCAGGCTCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGGCAGGAGAATGGCATGAAAGCAGGAGGCAGAGCTTGCAGTGAGCCGAGATTGCACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACGCCGTCTGAAAAAAAAAAAAAAATTTTCATAGGCCACCAGTTGCGGTGGCTCACACCTGTAATCCCAGCATTTGGGAGACTGAGGCGGGCAGATCACTTGAGCCCAAGAGTTCAAGACCAGTCTGGGCCACATAGTGAGACACCATCTCTACAAAAAAAATACAAAAAATTAACCAGCACCACGGTGCATGCCTGTACTCTCAGCTACTCAGGAGGCTGAGGTTGGAGGATCTCTGAGCCCAGGGAGACTGAGGCTGCAGTGAGCCATGATCACACCACTGCACTCCAGCCTGGGGGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAATCTTCATAGCCATTATTTTGTTTAACTGCCTCAAATGCAGCCCAATTTCATCTTCTTGCCCCCTAAATCTGCTGCCGCCCTCTGTGTCTCATGCTTAGAACTCCTGTAGCTGTTCAGTGGCAAGGGTGGGGGTGCTGAGGGGGCAGAGGTGAGGTTGATGATTTGGAGCCAAGTGATCAGGCTTCACTTCCAGCCCTGCCATGCCGTGTGTGACTTTGGCATATCATTTCCCCTCTCTGGGCTTCAGTTTCCCAACTGCAAAGAGGAAAATAACACCTGCCGAACCTCACAAGGCTTACAGTTCTTAAAAGGGTTCTGTAAACCATGGAGGGTTTTGAAGAAGTGGGTCATGGATAAGATTCCCACCTACTGGGCTCCAACCTGTGATGAAGCTGAAGAGGGACTGGATGTGGGCCCGATCCTTGAAGTAGGAGCGGCTGAGGCTGTTCCATATGACATCGGAGACCTTCTTCACCAGCTCACGGCTGGAGACACCCCCTTCTCGAGGATAGAGGGACAGGTCGACGGCGCCTCGGATCTGGGCGGTGAAGCGGGCATAGAGGGCGGCGATGATAGACAGGTCGGCCACGGGAAAGTAGGTGAGGCCGCCAGGCGGGTCGGGGGCGGGGCTGGGCTGGAAGGTGAGCTCGGGAACGTTGGTAGGGATGACGCGGTTGACAGCCAGAAAATGCTCCACGAAGCCCAGCACCAAGGAAAGGAGCACCAGGTCCGGCTCCTCTCGGCCCAGCTCGGCAGCAAACAGGCGCACCACGTCGTCGATGGAGCGCAGCGGGAACAGCGTCTTCTGGGCGGCCTTCAGCCCCATGGCGGCGGGCGGTGGGCGGCGGCCTGCAAGGCAAGCCGGGGGAGGGAGGGTCGGGCAGGTTCGGCCGGGGAGCCTCCTCCCAGGGTCCGCTAAGGTTCCACCCGCCCCGACACACGCACAGCTCCCCTGCTTCCCCACCCTCTTCAGCCTCTGCTCACCGGCTTCCCCTCTTTTGTCGGTGAGACCCCTCAGCCGAGACTGCAGAGCCTTTTTGTCCCCCACAATTCCGGGACGCCCGGTACCCGATGGGGTGCGCCCCAAGCACCCCAATGAGGAGCCCCAATGGCCGCCCCGCCCCCTCTCTACGACTGTGCCCCCGGGGCTGTAAAGTCTGTCCAGAAAGCGCACCCAGGTCAAGCCCCCAAACCCCAAGGAGAGTCCTGGCCTCGGTCCCCCTCGCCCACCTCCGCGCTTACATCCCACACTAGGCACCGCGGCGCACGCCGCCCGGAGCCTGCTGGGACATGAAGTCCCGCCCCTAGGGTCGCACTACCCGCCGGGAAGTGGAGTCTGGGCCCACCCCTGCCCCGCTGAGCCTGGAAATAGTGGCGGGCCGGGCCGCTGCGCTGTGGCTTCTGGGATCTCTAGGTCCGCGGCTCCGGACACCTCCTTCCCGAGATACTCAGGGATTGGCCCTTCCCTTCAGGCCGACCAGGCAGGAAGCGTGCCCGCAGTGCCTTCTGGAAAATGTAGTCCGGGGGCACTACCTGCAGACTCGGGGTGGGAGGTCGCCGAGCTTCTGCCGGTTTTGCTGTCACGGGTCGGTCGGCAAGTTATGAGGAAAAAGATCAGGTTGCTTGATCCAGAAAAAATTAAAATAAAACAATATGAGAAAAACAGATACTTTTAAACACTGCCAGAGAGTAAATGTGTTCAGCCGCTTTAGCTGGGTATCAGTGTCTGTTAACATATAAAGATGCCTACTCTGTGTGCAGCACTCGTTTCCCACTTCCGCCCGCGAGATACTCTAACACGTGCTAAGAGTAGCTTTTGTTTGTTTGTTTTGAGACACGGTCTTTCTCTTTCGCCCAGGCTGGAATGCAGTGGCTCGATCTGGGCTCACTGCAGCCTCGACTTCACGGGCTCAAGCGATTCTCGTGCCTCAGCCTCCCGAGTAGCTGTGATCACAGGCGTGCGCCACCACTCCCGCCTAATTTTGTGTGTATGTGCATATACATAAATATATATACATATAACACACACACACACACACACACACACACATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGCAGAGACAGGGATTCCCAGCTACTTGGGAGGCTGAGGCGCGGGGAATCCCTTGAACCTGGGAGGCGGAGGCTTCAGTGAGCCAGAATCTTGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGATTCCGTCTTAAAAAAAAGTCCCAAGTAGCTGGGATTATAGGCGTCCGCCACCACACCCAGAAAACTTTTTGTATTTTAAGTAGAGATGGGGTTTCACCATGTTGGCCAGACTGGTCTCGAACCCCTAACCTCAAGTGATCTGCCCGCCTCAGCCTCCCAAAGTGCTAAAATTACAGGCGTGAACCACCTTACCCGGCCAAAGAGTAGTTATTTGTTTATTTGTTTTGAGACAGAGTCTCGCTCTGTCACTCAGGCTGGAGTGCAGTGGGGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTTCTGCCTCAGCTTCCCAAGTAGCCGGGATTACAGGTGCCTGCCACCACACTTGGCTAATTTTTGTATTTTACTT | GTGGCCCAAGAAAATGGAGTCCCTTGGGTGGCTTGGGCTACTACAGTATGAAGGGGACAAGGCTGGGGGGAGGGAACAATACCCGCTCAGCCACACCGGCATTGACTGTCTGGCCCCTGCGGTCCTCGTTGCCCTTGCCGTGCCAGGTGACCTCAGCTGTCTGCTCCCCATTGGGCCCAAACACTACCCAGGCATGATCCTCAGACAGGGCGAGGTGGACATCCCGGAGACCCAGGGCCTGGCAGGCCCCAACCACAGCAAAGGCCACACCGGAGCTGTCCAATTTGGTGCCTGTGGAAGGGGGAGGTAATGAAAGAGGGTCCTCTGTGCTTTAACATGGGGAAAGGGGGCCAGGTAGTGATGGGCCACACTCCCTCCCACTCCCTTTCCAAGCCTGTGACCCAACCTCAGATTCTCCTGCCCACTATCCCTCCATCCCTTCCCTCCCACGTGTTCAAAGACTCTCTCCCTGTTTACACCCTCTATGTCCAACAAGATACCTTTCTGGATATCCTGTAGCTGACCCAGCCTTTGGCCCTACCTCGTCTTTCTCTGCAACTCTATTATATATTCTATGGATTTAGGGATTCCATTTTACTGCACTTACTAGGTTAAAACAGGAATGGCAAAAACAGGACGCTGGCCAACACTCTCTGGCTATACACCCACCAACAAATAACCCTCATTTATCTCTGCACTCTTTTCCTGCTAAGCTGAGAAGCAGCCTCTGATTCCTTCTCAATATGGCACACCAGGATGGGATTGCCAGTCAACCGGGCTTGGTGCAAAGCTCTTTGCAAGCCCTGACTCTTAAGCCTTTTGAGGTCAAGCCCCTTCTCTGTCTCAAACATTTTTGACCAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCTCGTCTCTACTAAAAATCCAAAAAAAAATTAGCCAGGCATGGTGGCAGGCTCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGGCAGGAGAATGGCATGAAAGCAGGAGGCAGAGCTTGCAGTGAGCCGAGATTGCACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACGCCGTCTGAAAAAAAAAAAAAAATTTTCATAGGCCACCAGTTGCGGTGGCTCACACCTGTAATCCCAGCATTTGGGAGACTGAGGCGGGCAGATCACTTGAGCCCAAGAGTTCAAGACCAGTCTGGGCCACATAGTGAGACACCATCTCTACAAAAAAAATACAAAAAATTAACCAGCACCACGGTGCATGCCTGTACTCTCAGCTACTCAGGAGGCTGAGGTTGGAGGATCTCTGAGCCCAGGGAGACTGAGGCTGCAGTGAGCCATGATCACACCACTGCACTCCAGCCTGGGGGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAATCTTCATAGCCATTATTTTGTTTAACTGCCTCAAATGCAGCCCAATTTCATCTTCTTGCCCCCTAAATCTGCTGCCGCCCTCTGTGTCTCATGCTTAGAACTCCTGTAGCTGTTCAGTGGCAAGGGTGGGGGTGCTGAGGGGGCAGAGGTGAGGTTGATGATTTGGAGCCAAGTGATCAGGCTTCACTTCCAGCCCTGCCATGCCGTGTGTGACTTTGGCATATCATTTCCCCTCTCTGGGCTTCAGTTTCCCAACTGCAAAGAGGAAAATAACACCTGCCGAACCTCACAAGGCTTACAGTTCTTAAAAGGGTTCTGTAAACCATGGAGGGTTTTGAAGAAGTGGGTCATGGATAAGATTCCCACCTACTGGGCTCCAACCTGTGATGAAGCTGAAGAGGGACTGGATGTGGGCCCGATCCTTGAAGTAGGAGCGGCTGAGGCTGTTCCATATGACATCGGAGACCTTCTTCACCAGCTCACGGCTGGAGACACCCCCTTCTCGAGGATAGAGGGACAGGTCGACGGCGCCTCGGATCTGGGCGGTGAAGCGGGCATAGAGGGCGGCGATGATAGGTCGGCCACGGGAAAGTAGGTGAGGCCGCCAGGCGGGTCGGGGGCGGGGCTGGGCTGGAAGGTGAGCTCGGGAACGTTGGTAGGGATGACGCGGTTGACAGCCAGAAAATGCTCCACGAAGCCCAGCACCAAGGAAAGGAGCACCAGGTCCGGCTCCTCTCGGCCCAGCTCGGCAGCAAACAGGCGCACCACGTCGTCGATGGAGCGCAGCGGGAACAGCGTCTTCTGGGCGGCCTTCAGCCCCATGGCGGCGGGCGGTGGGCGGCGGCCTGCAAGGCAAGCCGGGGGAGGGAGGGTCGGGCAGGTTCGGCCGGGGAGCCTCCTCCCAGGGTCCGCTAAGGTTCCACCCGCCCCGACACACGCACAGCTCCCCTGCTTCCCCACCCTCTTCAGCCTCTGCTCACCGGCTTCCCCTCTTTTGTCGGTGAGACCCCTCAGCCGAGACTGCAGAGCCTTTTTGTCCCCCACAATTCCGGGACGCCCGGTACCCGATGGGGTGCGCCCCAAGCACCCCAATGAGGAGCCCCAATGGCCGCCCCGCCCCCTCTCTACGACTGTGCCCCCGGGGCTGTAAAGTCTGTCCAGAAAGCGCACCCAGGTCAAGCCCCCAAACCCCAAGGAGAGTCCTGGCCTCGGTCCCCCTCGCCCACCTCCGCGCTTACATCCCACACTAGGCACCGCGGCGCACGCCGCCCGGAGCCTGCTGGGACATGAAGTCCCGCCCCTAGGGTCGCACTACCCGCCGGGAAGTGGAGTCTGGGCCCACCCCTGCCCCGCTGAGCCTGGAAATAGTGGCGGGCCGGGCCGCTGCGCTGTGGCTTCTGGGATCTCTAGGTCCGCGGCTCCGGACACCTCCTTCCCGAGATACTCAGGGATTGGCCCTTCCCTTCAGGCCGACCAGGCAGGAAGCGTGCCCGCAGTGCCTTCTGGAAAATGTAGTCCGGGGGCACTACCTGCAGACTCGGGGTGGGAGGTCGCCGAGCTTCTGCCGGTTTTGCTGTCACGGGTCGGTCGGCAAGTTATGAGGAAAAAGATCAGGTTGCTTGATCCAGAAAAAATTAAAATAAAACAATATGAGAAAAACAGATACTTTTAAACACTGCCAGAGAGTAAATGTGTTCAGCCGCTTTAGCTGGGTATCAGTGTCTGTTAACATATAAAGATGCCTACTCTGTGTGCAGCACTCGTTTCCCACTTCCGCCCGCGAGATACTCTAACACGTGCTAAGAGTAGCTTTTGTTTGTTTGTTTTGAGACACGGTCTTTCTCTTTCGCCCAGGCTGGAATGCAGTGGCTCGATCTGGGCTCACTGCAGCCTCGACTTCACGGGCTCAAGCGATTCTCGTGCCTCAGCCTCCCGAGTAGCTGTGATCACAGGCGTGCGCCACCACTCCCGCCTAATTTTGTGTGTATGTGCATATACATAAATATATATACATATAACACACACACACACACACACACACACACATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGCAGAGACAGGGATTCCCAGCTACTTGGGAGGCTGAGGCGCGGGGAATCCCTTGAACCTGGGAGGCGGAGGCTTCAGTGAGCCAGAATCTTGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGATTCCGTCTTAAAAAAAAGTCCCAAGTAGCTGGGATTATAGGCGTCCGCCACCACACCCAGAAAACTTTTTGTATTTTAAGTAGAGATGGGGTTTCACCATGTTGGCCAGACTGGTCTCGAACCCCTAACCTCAAGTGATCTGCCCGCCTCAGCCTCCCAAAGTGCTAAAATTACAGGCGTGAACCACCTTACCCGGCCAAAGAGTAGTTATTTGTTTATTTGTTTTGAGACAGAGTCTCGCTCTGTCACTCAGGCTGGAGTGCAGTGGGGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTTCTGCCTCAGCTTCCCAAGTAGCCGGGATTACAGGTGCCTGCCACCACACTTGGCTAATTTTTGTATTTTACTTNNNN | pathogenic | 178,062 |
Variant at chromosome 11, position 64809871, gene MEN1 (menin 1): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Multiple_endocrine_neoplasia,_type_1'] | TGGAGTCCCTTGGGTGGCTTGGGCTACTACAGTATGAAGGGGACAAGGCTGGGGGGAGGGAACAATACCCGCTCAGCCACACCGGCATTGACTGTCTGGCCCCTGCGGTCCTCGTTGCCCTTGCCGTGCCAGGTGACCTCAGCTGTCTGCTCCCCATTGGGCCCAAACACTACCCAGGCATGATCCTCAGACAGGGCGAGGTGGACATCCCGGAGACCCAGGGCCTGGCAGGCCCCAACCACAGCAAAGGCCACACCGGAGCTGTCCAATTTGGTGCCTGTGGAAGGGGGAGGTAATGAAAGAGGGTCCTCTGTGCTTTAACATGGGGAAAGGGGGCCAGGTAGTGATGGGCCACACTCCCTCCCACTCCCTTTCCAAGCCTGTGACCCAACCTCAGATTCTCCTGCCCACTATCCCTCCATCCCTTCCCTCCCACGTGTTCAAAGACTCTCTCCCTGTTTACACCCTCTATGTCCAACAAGATACCTTTCTGGATATCCTGTAGCTGACCCAGCCTTTGGCCCTACCTCGTCTTTCTCTGCAACTCTATTATATATTCTATGGATTTAGGGATTCCATTTTACTGCACTTACTAGGTTAAAACAGGAATGGCAAAAACAGGACGCTGGCCAACACTCTCTGGCTATACACCCACCAACAAATAACCCTCATTTATCTCTGCACTCTTTTCCTGCTAAGCTGAGAAGCAGCCTCTGATTCCTTCTCAATATGGCACACCAGGATGGGATTGCCAGTCAACCGGGCTTGGTGCAAAGCTCTTTGCAAGCCCTGACTCTTAAGCCTTTTGAGGTCAAGCCCCTTCTCTGTCTCAAACATTTTTGACCAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCTCGTCTCTACTAAAAATCCAAAAAAAAATTAGCCAGGCATGGTGGCAGGCTCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGGCAGGAGAATGGCATGAAAGCAGGAGGCAGAGCTTGCAGTGAGCCGAGATTGCACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACGCCGTCTGAAAAAAAAAAAAAAATTTTCATAGGCCACCAGTTGCGGTGGCTCACACCTGTAATCCCAGCATTTGGGAGACTGAGGCGGGCAGATCACTTGAGCCCAAGAGTTCAAGACCAGTCTGGGCCACATAGTGAGACACCATCTCTACAAAAAAAATACAAAAAATTAACCAGCACCACGGTGCATGCCTGTACTCTCAGCTACTCAGGAGGCTGAGGTTGGAGGATCTCTGAGCCCAGGGAGACTGAGGCTGCAGTGAGCCATGATCACACCACTGCACTCCAGCCTGGGGGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAATCTTCATAGCCATTATTTTGTTTAACTGCCTCAAATGCAGCCCAATTTCATCTTCTTGCCCCCTAAATCTGCTGCCGCCCTCTGTGTCTCATGCTTAGAACTCCTGTAGCTGTTCAGTGGCAAGGGTGGGGGTGCTGAGGGGGCAGAGGTGAGGTTGATGATTTGGAGCCAAGTGATCAGGCTTCACTTCCAGCCCTGCCATGCCGTGTGTGACTTTGGCATATCATTTCCCCTCTCTGGGCTTCAGTTTCCCAACTGCAAAGAGGAAAATAACACCTGCCGAACCTCACAAGGCTTACAGTTCTTAAAAGGGTTCTGTAAACCATGGAGGGTTTTGAAGAAGTGGGTCATGGATAAGATTCCCACCTACTGGGCTCCAACCTGTGATGAAGCTGAAGAGGGACTGGATGTGGGCCCGATCCTTGAAGTAGGAGCGGCTGAGGCTGTTCCATATGACATCGGAGACCTTCTTCACCAGCTCACGGCTGGAGACACCCCCTTCTCGAGGATAGAGGGACAGGTCGACGGCGCCTCGGATCTGGGCGGTGAAGCGGGCATAGAGGGCGGCGATGATAGACAGGTCGGCCACGGGAAAGTAGGTGAGGCCGCCAGGCGGGTCGGGGGCGGGGCTGGGCTGGAAGGTGAGCTCGGGAACGTTGGTAGGGATGACGCGGTTGACAGCCAGAAAATGCTCCACGAAGCCCAGCACCAAGGAAAGGAGCACCAGGTCCGGCTCCTCTCGGCCCAGCTCGGCAGCAAACAGGCGCACCACGTCGTCGATGGAGCGCAGCGGGAACAGCGTCTTCTGGGCGGCCTTCAGCCCCATGGCGGCGGGCGGTGGGCGGCGGCCTGCAAGGCAAGCCGGGGGAGGGAGGGTCGGGCAGGTTCGGCCGGGGAGCCTCCTCCCAGGGTCCGCTAAGGTTCCACCCGCCCCGACACACGCACAGCTCCCCTGCTTCCCCACCCTCTTCAGCCTCTGCTCACCGGCTTCCCCTCTTTTGTCGGTGAGACCCCTCAGCCGAGACTGCAGAGCCTTTTTGTCCCCCACAATTCCGGGACGCCCGGTACCCGATGGGGTGCGCCCCAAGCACCCCAATGAGGAGCCCCAATGGCCGCCCCGCCCCCTCTCTACGACTGTGCCCCCGGGGCTGTAAAGTCTGTCCAGAAAGCGCACCCAGGTCAAGCCCCCAAACCCCAAGGAGAGTCCTGGCCTCGGTCCCCCTCGCCCACCTCCGCGCTTACATCCCACACTAGGCACCGCGGCGCACGCCGCCCGGAGCCTGCTGGGACATGAAGTCCCGCCCCTAGGGTCGCACTACCCGCCGGGAAGTGGAGTCTGGGCCCACCCCTGCCCCGCTGAGCCTGGAAATAGTGGCGGGCCGGGCCGCTGCGCTGTGGCTTCTGGGATCTCTAGGTCCGCGGCTCCGGACACCTCCTTCCCGAGATACTCAGGGATTGGCCCTTCCCTTCAGGCCGACCAGGCAGGAAGCGTGCCCGCAGTGCCTTCTGGAAAATGTAGTCCGGGGGCACTACCTGCAGACTCGGGGTGGGAGGTCGCCGAGCTTCTGCCGGTTTTGCTGTCACGGGTCGGTCGGCAAGTTATGAGGAAAAAGATCAGGTTGCTTGATCCAGAAAAAATTAAAATAAAACAATATGAGAAAAACAGATACTTTTAAACACTGCCAGAGAGTAAATGTGTTCAGCCGCTTTAGCTGGGTATCAGTGTCTGTTAACATATAAAGATGCCTACTCTGTGTGCAGCACTCGTTTCCCACTTCCGCCCGCGAGATACTCTAACACGTGCTAAGAGTAGCTTTTGTTTGTTTGTTTTGAGACACGGTCTTTCTCTTTCGCCCAGGCTGGAATGCAGTGGCTCGATCTGGGCTCACTGCAGCCTCGACTTCACGGGCTCAAGCGATTCTCGTGCCTCAGCCTCCCGAGTAGCTGTGATCACAGGCGTGCGCCACCACTCCCGCCTAATTTTGTGTGTATGTGCATATACATAAATATATATACATATAACACACACACACACACACACACACACACATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGCAGAGACAGGGATTCCCAGCTACTTGGGAGGCTGAGGCGCGGGGAATCCCTTGAACCTGGGAGGCGGAGGCTTCAGTGAGCCAGAATCTTGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGATTCCGTCTTAAAAAAAAGTCCCAAGTAGCTGGGATTATAGGCGTCCGCCACCACACCCAGAAAACTTTTTGTATTTTAAGTAGAGATGGGGTTTCACCATGTTGGCCAGACTGGTCTCGAACCCCTAACCTCAAGTGATCTGCCCGCCTCAGCCTCCCAAAGTGCTAAAATTACAGGCGTGAACCACCTTACCCGGCCAAAGAGTAGTTATTTGTTTATTTGTTTTGAGACAGAGTCTCGCTCTGTCACTCAGGCTGGAGTGCAGTGGGGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTTCTGCCTCAGCTTCCCAAGTAGCCGGGATTACAGGTGCCTGCCACCACACTTGGCTAATTTTTGTATTTTACTTAGTAGAGACAGGGG | TGGAGTCCCTTGGGTGGCTTGGGCTACTACAGTATGAAGGGGACAAGGCTGGGGGGAGGGAACAATACCCGCTCAGCCACACCGGCATTGACTGTCTGGCCCCTGCGGTCCTCGTTGCCCTTGCCGTGCCAGGTGACCTCAGCTGTCTGCTCCCCATTGGGCCCAAACACTACCCAGGCATGATCCTCAGACAGGGCGAGGTGGACATCCCGGAGACCCAGGGCCTGGCAGGCCCCAACCACAGCAAAGGCCACACCGGAGCTGTCCAATTTGGTGCCTGTGGAAGGGGGAGGTAATGAAAGAGGGTCCTCTGTGCTTTAACATGGGGAAAGGGGGCCAGGTAGTGATGGGCCACACTCCCTCCCACTCCCTTTCCAAGCCTGTGACCCAACCTCAGATTCTCCTGCCCACTATCCCTCCATCCCTTCCCTCCCACGTGTTCAAAGACTCTCTCCCTGTTTACACCCTCTATGTCCAACAAGATACCTTTCTGGATATCCTGTAGCTGACCCAGCCTTTGGCCCTACCTCGTCTTTCTCTGCAACTCTATTATATATTCTATGGATTTAGGGATTCCATTTTACTGCACTTACTAGGTTAAAACAGGAATGGCAAAAACAGGACGCTGGCCAACACTCTCTGGCTATACACCCACCAACAAATAACCCTCATTTATCTCTGCACTCTTTTCCTGCTAAGCTGAGAAGCAGCCTCTGATTCCTTCTCAATATGGCACACCAGGATGGGATTGCCAGTCAACCGGGCTTGGTGCAAAGCTCTTTGCAAGCCCTGACTCTTAAGCCTTTTGAGGTCAAGCCCCTTCTCTGTCTCAAACATTTTTGACCAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCTCGTCTCTACTAAAAATCCAAAAAAAAATTAGCCAGGCATGGTGGCAGGCTCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGGCAGGAGAATGGCATGAAAGCAGGAGGCAGAGCTTGCAGTGAGCCGAGATTGCACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACGCCGTCTGAAAAAAAAAAAAAAATTTTCATAGGCCACCAGTTGCGGTGGCTCACACCTGTAATCCCAGCATTTGGGAGACTGAGGCGGGCAGATCACTTGAGCCCAAGAGTTCAAGACCAGTCTGGGCCACATAGTGAGACACCATCTCTACAAAAAAAATACAAAAAATTAACCAGCACCACGGTGCATGCCTGTACTCTCAGCTACTCAGGAGGCTGAGGTTGGAGGATCTCTGAGCCCAGGGAGACTGAGGCTGCAGTGAGCCATGATCACACCACTGCACTCCAGCCTGGGGGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAATCTTCATAGCCATTATTTTGTTTAACTGCCTCAAATGCAGCCCAATTTCATCTTCTTGCCCCCTAAATCTGCTGCCGCCCTCTGTGTCTCATGCTTAGAACTCCTGTAGCTGTTCAGTGGCAAGGGTGGGGGTGCTGAGGGGGCAGAGGTGAGGTTGATGATTTGGAGCCAAGTGATCAGGCTTCACTTCCAGCCCTGCCATGCCGTGTGTGACTTTGGCATATCATTTCCCCTCTCTGGGCTTCAGTTTCCCAACTGCAAAGAGGAAAATAACACCTGCCGAACCTCACAAGGCTTACAGTTCTTAAAAGGGTTCTGTAAACCATGGAGGGTTTTGAAGAAGTGGGTCATGGATAAGATTCCCACCTACTGGGCTCCAACCTGTGATGAAGCTGAAGAGGGACTGGATGTGGGCCCGATCCTTGAAGTAGGAGCGGCTGAGGCTGTTCCATATGACATCGGAGACCTTCTTCACCAGCTCACGGCTGGAGACACCCCCTTCTCGAGGATAGAGGGACAGGTCGACGGCGCCTCGGATCTGGGCGGTGAAGCGGGCATAGAGGGCGGCGATGATAGACAGGTCGGCCAGGGAAAGTAGGTGAGGCCGCCAGGCGGGTCGGGGGCGGGGCTGGGCTGGAAGGTGAGCTCGGGAACGTTGGTAGGGATGACGCGGTTGACAGCCAGAAAATGCTCCACGAAGCCCAGCACCAAGGAAAGGAGCACCAGGTCCGGCTCCTCTCGGCCCAGCTCGGCAGCAAACAGGCGCACCACGTCGTCGATGGAGCGCAGCGGGAACAGCGTCTTCTGGGCGGCCTTCAGCCCCATGGCGGCGGGCGGTGGGCGGCGGCCTGCAAGGCAAGCCGGGGGAGGGAGGGTCGGGCAGGTTCGGCCGGGGAGCCTCCTCCCAGGGTCCGCTAAGGTTCCACCCGCCCCGACACACGCACAGCTCCCCTGCTTCCCCACCCTCTTCAGCCTCTGCTCACCGGCTTCCCCTCTTTTGTCGGTGAGACCCCTCAGCCGAGACTGCAGAGCCTTTTTGTCCCCCACAATTCCGGGACGCCCGGTACCCGATGGGGTGCGCCCCAAGCACCCCAATGAGGAGCCCCAATGGCCGCCCCGCCCCCTCTCTACGACTGTGCCCCCGGGGCTGTAAAGTCTGTCCAGAAAGCGCACCCAGGTCAAGCCCCCAAACCCCAAGGAGAGTCCTGGCCTCGGTCCCCCTCGCCCACCTCCGCGCTTACATCCCACACTAGGCACCGCGGCGCACGCCGCCCGGAGCCTGCTGGGACATGAAGTCCCGCCCCTAGGGTCGCACTACCCGCCGGGAAGTGGAGTCTGGGCCCACCCCTGCCCCGCTGAGCCTGGAAATAGTGGCGGGCCGGGCCGCTGCGCTGTGGCTTCTGGGATCTCTAGGTCCGCGGCTCCGGACACCTCCTTCCCGAGATACTCAGGGATTGGCCCTTCCCTTCAGGCCGACCAGGCAGGAAGCGTGCCCGCAGTGCCTTCTGGAAAATGTAGTCCGGGGGCACTACCTGCAGACTCGGGGTGGGAGGTCGCCGAGCTTCTGCCGGTTTTGCTGTCACGGGTCGGTCGGCAAGTTATGAGGAAAAAGATCAGGTTGCTTGATCCAGAAAAAATTAAAATAAAACAATATGAGAAAAACAGATACTTTTAAACACTGCCAGAGAGTAAATGTGTTCAGCCGCTTTAGCTGGGTATCAGTGTCTGTTAACATATAAAGATGCCTACTCTGTGTGCAGCACTCGTTTCCCACTTCCGCCCGCGAGATACTCTAACACGTGCTAAGAGTAGCTTTTGTTTGTTTGTTTTGAGACACGGTCTTTCTCTTTCGCCCAGGCTGGAATGCAGTGGCTCGATCTGGGCTCACTGCAGCCTCGACTTCACGGGCTCAAGCGATTCTCGTGCCTCAGCCTCCCGAGTAGCTGTGATCACAGGCGTGCGCCACCACTCCCGCCTAATTTTGTGTGTATGTGCATATACATAAATATATATACATATAACACACACACACACACACACACACACACATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGCAGAGACAGGGATTCCCAGCTACTTGGGAGGCTGAGGCGCGGGGAATCCCTTGAACCTGGGAGGCGGAGGCTTCAGTGAGCCAGAATCTTGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGATTCCGTCTTAAAAAAAAGTCCCAAGTAGCTGGGATTATAGGCGTCCGCCACCACACCCAGAAAACTTTTTGTATTTTAAGTAGAGATGGGGTTTCACCATGTTGGCCAGACTGGTCTCGAACCCCTAACCTCAAGTGATCTGCCCGCCTCAGCCTCCCAAAGTGCTAAAATTACAGGCGTGAACCACCTTACCCGGCCAAAGAGTAGTTATTTGTTTATTTGTTTTGAGACAGAGTCTCGCTCTGTCACTCAGGCTGGAGTGCAGTGGGGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTTCTGCCTCAGCTTCCCAAGTAGCCGGGATTACAGGTGCCTGCCACCACACTTGGCTAATTTTTGTATTTTACTTAGTAGAGACAGGGGN | pathogenic | 178,068 |
Is chromosome 11, position 64809872, gene MEN1 (menin 1) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Multiple_endocrine_neoplasia,_type_1'] | GGAGTCCCTTGGGTGGCTTGGGCTACTACAGTATGAAGGGGACAAGGCTGGGGGGAGGGAACAATACCCGCTCAGCCACACCGGCATTGACTGTCTGGCCCCTGCGGTCCTCGTTGCCCTTGCCGTGCCAGGTGACCTCAGCTGTCTGCTCCCCATTGGGCCCAAACACTACCCAGGCATGATCCTCAGACAGGGCGAGGTGGACATCCCGGAGACCCAGGGCCTGGCAGGCCCCAACCACAGCAAAGGCCACACCGGAGCTGTCCAATTTGGTGCCTGTGGAAGGGGGAGGTAATGAAAGAGGGTCCTCTGTGCTTTAACATGGGGAAAGGGGGCCAGGTAGTGATGGGCCACACTCCCTCCCACTCCCTTTCCAAGCCTGTGACCCAACCTCAGATTCTCCTGCCCACTATCCCTCCATCCCTTCCCTCCCACGTGTTCAAAGACTCTCTCCCTGTTTACACCCTCTATGTCCAACAAGATACCTTTCTGGATATCCTGTAGCTGACCCAGCCTTTGGCCCTACCTCGTCTTTCTCTGCAACTCTATTATATATTCTATGGATTTAGGGATTCCATTTTACTGCACTTACTAGGTTAAAACAGGAATGGCAAAAACAGGACGCTGGCCAACACTCTCTGGCTATACACCCACCAACAAATAACCCTCATTTATCTCTGCACTCTTTTCCTGCTAAGCTGAGAAGCAGCCTCTGATTCCTTCTCAATATGGCACACCAGGATGGGATTGCCAGTCAACCGGGCTTGGTGCAAAGCTCTTTGCAAGCCCTGACTCTTAAGCCTTTTGAGGTCAAGCCCCTTCTCTGTCTCAAACATTTTTGACCAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCTCGTCTCTACTAAAAATCCAAAAAAAAATTAGCCAGGCATGGTGGCAGGCTCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGGCAGGAGAATGGCATGAAAGCAGGAGGCAGAGCTTGCAGTGAGCCGAGATTGCACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACGCCGTCTGAAAAAAAAAAAAAAATTTTCATAGGCCACCAGTTGCGGTGGCTCACACCTGTAATCCCAGCATTTGGGAGACTGAGGCGGGCAGATCACTTGAGCCCAAGAGTTCAAGACCAGTCTGGGCCACATAGTGAGACACCATCTCTACAAAAAAAATACAAAAAATTAACCAGCACCACGGTGCATGCCTGTACTCTCAGCTACTCAGGAGGCTGAGGTTGGAGGATCTCTGAGCCCAGGGAGACTGAGGCTGCAGTGAGCCATGATCACACCACTGCACTCCAGCCTGGGGGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAATCTTCATAGCCATTATTTTGTTTAACTGCCTCAAATGCAGCCCAATTTCATCTTCTTGCCCCCTAAATCTGCTGCCGCCCTCTGTGTCTCATGCTTAGAACTCCTGTAGCTGTTCAGTGGCAAGGGTGGGGGTGCTGAGGGGGCAGAGGTGAGGTTGATGATTTGGAGCCAAGTGATCAGGCTTCACTTCCAGCCCTGCCATGCCGTGTGTGACTTTGGCATATCATTTCCCCTCTCTGGGCTTCAGTTTCCCAACTGCAAAGAGGAAAATAACACCTGCCGAACCTCACAAGGCTTACAGTTCTTAAAAGGGTTCTGTAAACCATGGAGGGTTTTGAAGAAGTGGGTCATGGATAAGATTCCCACCTACTGGGCTCCAACCTGTGATGAAGCTGAAGAGGGACTGGATGTGGGCCCGATCCTTGAAGTAGGAGCGGCTGAGGCTGTTCCATATGACATCGGAGACCTTCTTCACCAGCTCACGGCTGGAGACACCCCCTTCTCGAGGATAGAGGGACAGGTCGACGGCGCCTCGGATCTGGGCGGTGAAGCGGGCATAGAGGGCGGCGATGATAGACAGGTCGGCCACGGGAAAGTAGGTGAGGCCGCCAGGCGGGTCGGGGGCGGGGCTGGGCTGGAAGGTGAGCTCGGGAACGTTGGTAGGGATGACGCGGTTGACAGCCAGAAAATGCTCCACGAAGCCCAGCACCAAGGAAAGGAGCACCAGGTCCGGCTCCTCTCGGCCCAGCTCGGCAGCAAACAGGCGCACCACGTCGTCGATGGAGCGCAGCGGGAACAGCGTCTTCTGGGCGGCCTTCAGCCCCATGGCGGCGGGCGGTGGGCGGCGGCCTGCAAGGCAAGCCGGGGGAGGGAGGGTCGGGCAGGTTCGGCCGGGGAGCCTCCTCCCAGGGTCCGCTAAGGTTCCACCCGCCCCGACACACGCACAGCTCCCCTGCTTCCCCACCCTCTTCAGCCTCTGCTCACCGGCTTCCCCTCTTTTGTCGGTGAGACCCCTCAGCCGAGACTGCAGAGCCTTTTTGTCCCCCACAATTCCGGGACGCCCGGTACCCGATGGGGTGCGCCCCAAGCACCCCAATGAGGAGCCCCAATGGCCGCCCCGCCCCCTCTCTACGACTGTGCCCCCGGGGCTGTAAAGTCTGTCCAGAAAGCGCACCCAGGTCAAGCCCCCAAACCCCAAGGAGAGTCCTGGCCTCGGTCCCCCTCGCCCACCTCCGCGCTTACATCCCACACTAGGCACCGCGGCGCACGCCGCCCGGAGCCTGCTGGGACATGAAGTCCCGCCCCTAGGGTCGCACTACCCGCCGGGAAGTGGAGTCTGGGCCCACCCCTGCCCCGCTGAGCCTGGAAATAGTGGCGGGCCGGGCCGCTGCGCTGTGGCTTCTGGGATCTCTAGGTCCGCGGCTCCGGACACCTCCTTCCCGAGATACTCAGGGATTGGCCCTTCCCTTCAGGCCGACCAGGCAGGAAGCGTGCCCGCAGTGCCTTCTGGAAAATGTAGTCCGGGGGCACTACCTGCAGACTCGGGGTGGGAGGTCGCCGAGCTTCTGCCGGTTTTGCTGTCACGGGTCGGTCGGCAAGTTATGAGGAAAAAGATCAGGTTGCTTGATCCAGAAAAAATTAAAATAAAACAATATGAGAAAAACAGATACTTTTAAACACTGCCAGAGAGTAAATGTGTTCAGCCGCTTTAGCTGGGTATCAGTGTCTGTTAACATATAAAGATGCCTACTCTGTGTGCAGCACTCGTTTCCCACTTCCGCCCGCGAGATACTCTAACACGTGCTAAGAGTAGCTTTTGTTTGTTTGTTTTGAGACACGGTCTTTCTCTTTCGCCCAGGCTGGAATGCAGTGGCTCGATCTGGGCTCACTGCAGCCTCGACTTCACGGGCTCAAGCGATTCTCGTGCCTCAGCCTCCCGAGTAGCTGTGATCACAGGCGTGCGCCACCACTCCCGCCTAATTTTGTGTGTATGTGCATATACATAAATATATATACATATAACACACACACACACACACACACACACACATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGCAGAGACAGGGATTCCCAGCTACTTGGGAGGCTGAGGCGCGGGGAATCCCTTGAACCTGGGAGGCGGAGGCTTCAGTGAGCCAGAATCTTGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGATTCCGTCTTAAAAAAAAGTCCCAAGTAGCTGGGATTATAGGCGTCCGCCACCACACCCAGAAAACTTTTTGTATTTTAAGTAGAGATGGGGTTTCACCATGTTGGCCAGACTGGTCTCGAACCCCTAACCTCAAGTGATCTGCCCGCCTCAGCCTCCCAAAGTGCTAAAATTACAGGCGTGAACCACCTTACCCGGCCAAAGAGTAGTTATTTGTTTATTTGTTTTGAGACAGAGTCTCGCTCTGTCACTCAGGCTGGAGTGCAGTGGGGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTTCTGCCTCAGCTTCCCAAGTAGCCGGGATTACAGGTGCCTGCCACCACACTTGGCTAATTTTTGTATTTTACTTAGTAGAGACAGGGGT | GGAGTCCCTTGGGTGGCTTGGGCTACTACAGTATGAAGGGGACAAGGCTGGGGGGAGGGAACAATACCCGCTCAGCCACACCGGCATTGACTGTCTGGCCCCTGCGGTCCTCGTTGCCCTTGCCGTGCCAGGTGACCTCAGCTGTCTGCTCCCCATTGGGCCCAAACACTACCCAGGCATGATCCTCAGACAGGGCGAGGTGGACATCCCGGAGACCCAGGGCCTGGCAGGCCCCAACCACAGCAAAGGCCACACCGGAGCTGTCCAATTTGGTGCCTGTGGAAGGGGGAGGTAATGAAAGAGGGTCCTCTGTGCTTTAACATGGGGAAAGGGGGCCAGGTAGTGATGGGCCACACTCCCTCCCACTCCCTTTCCAAGCCTGTGACCCAACCTCAGATTCTCCTGCCCACTATCCCTCCATCCCTTCCCTCCCACGTGTTCAAAGACTCTCTCCCTGTTTACACCCTCTATGTCCAACAAGATACCTTTCTGGATATCCTGTAGCTGACCCAGCCTTTGGCCCTACCTCGTCTTTCTCTGCAACTCTATTATATATTCTATGGATTTAGGGATTCCATTTTACTGCACTTACTAGGTTAAAACAGGAATGGCAAAAACAGGACGCTGGCCAACACTCTCTGGCTATACACCCACCAACAAATAACCCTCATTTATCTCTGCACTCTTTTCCTGCTAAGCTGAGAAGCAGCCTCTGATTCCTTCTCAATATGGCACACCAGGATGGGATTGCCAGTCAACCGGGCTTGGTGCAAAGCTCTTTGCAAGCCCTGACTCTTAAGCCTTTTGAGGTCAAGCCCCTTCTCTGTCTCAAACATTTTTGACCAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCTCGTCTCTACTAAAAATCCAAAAAAAAATTAGCCAGGCATGGTGGCAGGCTCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGGCAGGAGAATGGCATGAAAGCAGGAGGCAGAGCTTGCAGTGAGCCGAGATTGCACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACGCCGTCTGAAAAAAAAAAAAAAATTTTCATAGGCCACCAGTTGCGGTGGCTCACACCTGTAATCCCAGCATTTGGGAGACTGAGGCGGGCAGATCACTTGAGCCCAAGAGTTCAAGACCAGTCTGGGCCACATAGTGAGACACCATCTCTACAAAAAAAATACAAAAAATTAACCAGCACCACGGTGCATGCCTGTACTCTCAGCTACTCAGGAGGCTGAGGTTGGAGGATCTCTGAGCCCAGGGAGACTGAGGCTGCAGTGAGCCATGATCACACCACTGCACTCCAGCCTGGGGGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAATCTTCATAGCCATTATTTTGTTTAACTGCCTCAAATGCAGCCCAATTTCATCTTCTTGCCCCCTAAATCTGCTGCCGCCCTCTGTGTCTCATGCTTAGAACTCCTGTAGCTGTTCAGTGGCAAGGGTGGGGGTGCTGAGGGGGCAGAGGTGAGGTTGATGATTTGGAGCCAAGTGATCAGGCTTCACTTCCAGCCCTGCCATGCCGTGTGTGACTTTGGCATATCATTTCCCCTCTCTGGGCTTCAGTTTCCCAACTGCAAAGAGGAAAATAACACCTGCCGAACCTCACAAGGCTTACAGTTCTTAAAAGGGTTCTGTAAACCATGGAGGGTTTTGAAGAAGTGGGTCATGGATAAGATTCCCACCTACTGGGCTCCAACCTGTGATGAAGCTGAAGAGGGACTGGATGTGGGCCCGATCCTTGAAGTAGGAGCGGCTGAGGCTGTTCCATATGACATCGGAGACCTTCTTCACCAGCTCACGGCTGGAGACACCCCCTTCTCGAGGATAGAGGGACAGGTCGACGGCGCCTCGGATCTGGGCGGTGAAGCGGGCATAGAGGGCGGCGATGATAGACAGGTCGGCCACGGAAAGTAGGTGAGGCCGCCAGGCGGGTCGGGGGCGGGGCTGGGCTGGAAGGTGAGCTCGGGAACGTTGGTAGGGATGACGCGGTTGACAGCCAGAAAATGCTCCACGAAGCCCAGCACCAAGGAAAGGAGCACCAGGTCCGGCTCCTCTCGGCCCAGCTCGGCAGCAAACAGGCGCACCACGTCGTCGATGGAGCGCAGCGGGAACAGCGTCTTCTGGGCGGCCTTCAGCCCCATGGCGGCGGGCGGTGGGCGGCGGCCTGCAAGGCAAGCCGGGGGAGGGAGGGTCGGGCAGGTTCGGCCGGGGAGCCTCCTCCCAGGGTCCGCTAAGGTTCCACCCGCCCCGACACACGCACAGCTCCCCTGCTTCCCCACCCTCTTCAGCCTCTGCTCACCGGCTTCCCCTCTTTTGTCGGTGAGACCCCTCAGCCGAGACTGCAGAGCCTTTTTGTCCCCCACAATTCCGGGACGCCCGGTACCCGATGGGGTGCGCCCCAAGCACCCCAATGAGGAGCCCCAATGGCCGCCCCGCCCCCTCTCTACGACTGTGCCCCCGGGGCTGTAAAGTCTGTCCAGAAAGCGCACCCAGGTCAAGCCCCCAAACCCCAAGGAGAGTCCTGGCCTCGGTCCCCCTCGCCCACCTCCGCGCTTACATCCCACACTAGGCACCGCGGCGCACGCCGCCCGGAGCCTGCTGGGACATGAAGTCCCGCCCCTAGGGTCGCACTACCCGCCGGGAAGTGGAGTCTGGGCCCACCCCTGCCCCGCTGAGCCTGGAAATAGTGGCGGGCCGGGCCGCTGCGCTGTGGCTTCTGGGATCTCTAGGTCCGCGGCTCCGGACACCTCCTTCCCGAGATACTCAGGGATTGGCCCTTCCCTTCAGGCCGACCAGGCAGGAAGCGTGCCCGCAGTGCCTTCTGGAAAATGTAGTCCGGGGGCACTACCTGCAGACTCGGGGTGGGAGGTCGCCGAGCTTCTGCCGGTTTTGCTGTCACGGGTCGGTCGGCAAGTTATGAGGAAAAAGATCAGGTTGCTTGATCCAGAAAAAATTAAAATAAAACAATATGAGAAAAACAGATACTTTTAAACACTGCCAGAGAGTAAATGTGTTCAGCCGCTTTAGCTGGGTATCAGTGTCTGTTAACATATAAAGATGCCTACTCTGTGTGCAGCACTCGTTTCCCACTTCCGCCCGCGAGATACTCTAACACGTGCTAAGAGTAGCTTTTGTTTGTTTGTTTTGAGACACGGTCTTTCTCTTTCGCCCAGGCTGGAATGCAGTGGCTCGATCTGGGCTCACTGCAGCCTCGACTTCACGGGCTCAAGCGATTCTCGTGCCTCAGCCTCCCGAGTAGCTGTGATCACAGGCGTGCGCCACCACTCCCGCCTAATTTTGTGTGTATGTGCATATACATAAATATATATACATATAACACACACACACACACACACACACACACATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGCAGAGACAGGGATTCCCAGCTACTTGGGAGGCTGAGGCGCGGGGAATCCCTTGAACCTGGGAGGCGGAGGCTTCAGTGAGCCAGAATCTTGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGATTCCGTCTTAAAAAAAAGTCCCAAGTAGCTGGGATTATAGGCGTCCGCCACCACACCCAGAAAACTTTTTGTATTTTAAGTAGAGATGGGGTTTCACCATGTTGGCCAGACTGGTCTCGAACCCCTAACCTCAAGTGATCTGCCCGCCTCAGCCTCCCAAAGTGCTAAAATTACAGGCGTGAACCACCTTACCCGGCCAAAGAGTAGTTATTTGTTTATTTGTTTTGAGACAGAGTCTCGCTCTGTCACTCAGGCTGGAGTGCAGTGGGGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTTCTGCCTCAGCTTCCCAAGTAGCCGGGATTACAGGTGCCTGCCACCACACTTGGCTAATTTTTGTATTTTACTTAGTAGAGACAGGGGTN | pathogenic | 178,069 |
Is the genetic mutation found on chromosome 11 at position 64809875, within the gene MEN1 (menin 1), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Multiple_endocrine_neoplasia,_type_1'] | GTCCCTTGGGTGGCTTGGGCTACTACAGTATGAAGGGGACAAGGCTGGGGGGAGGGAACAATACCCGCTCAGCCACACCGGCATTGACTGTCTGGCCCCTGCGGTCCTCGTTGCCCTTGCCGTGCCAGGTGACCTCAGCTGTCTGCTCCCCATTGGGCCCAAACACTACCCAGGCATGATCCTCAGACAGGGCGAGGTGGACATCCCGGAGACCCAGGGCCTGGCAGGCCCCAACCACAGCAAAGGCCACACCGGAGCTGTCCAATTTGGTGCCTGTGGAAGGGGGAGGTAATGAAAGAGGGTCCTCTGTGCTTTAACATGGGGAAAGGGGGCCAGGTAGTGATGGGCCACACTCCCTCCCACTCCCTTTCCAAGCCTGTGACCCAACCTCAGATTCTCCTGCCCACTATCCCTCCATCCCTTCCCTCCCACGTGTTCAAAGACTCTCTCCCTGTTTACACCCTCTATGTCCAACAAGATACCTTTCTGGATATCCTGTAGCTGACCCAGCCTTTGGCCCTACCTCGTCTTTCTCTGCAACTCTATTATATATTCTATGGATTTAGGGATTCCATTTTACTGCACTTACTAGGTTAAAACAGGAATGGCAAAAACAGGACGCTGGCCAACACTCTCTGGCTATACACCCACCAACAAATAACCCTCATTTATCTCTGCACTCTTTTCCTGCTAAGCTGAGAAGCAGCCTCTGATTCCTTCTCAATATGGCACACCAGGATGGGATTGCCAGTCAACCGGGCTTGGTGCAAAGCTCTTTGCAAGCCCTGACTCTTAAGCCTTTTGAGGTCAAGCCCCTTCTCTGTCTCAAACATTTTTGACCAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCTCGTCTCTACTAAAAATCCAAAAAAAAATTAGCCAGGCATGGTGGCAGGCTCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGGCAGGAGAATGGCATGAAAGCAGGAGGCAGAGCTTGCAGTGAGCCGAGATTGCACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACGCCGTCTGAAAAAAAAAAAAAAATTTTCATAGGCCACCAGTTGCGGTGGCTCACACCTGTAATCCCAGCATTTGGGAGACTGAGGCGGGCAGATCACTTGAGCCCAAGAGTTCAAGACCAGTCTGGGCCACATAGTGAGACACCATCTCTACAAAAAAAATACAAAAAATTAACCAGCACCACGGTGCATGCCTGTACTCTCAGCTACTCAGGAGGCTGAGGTTGGAGGATCTCTGAGCCCAGGGAGACTGAGGCTGCAGTGAGCCATGATCACACCACTGCACTCCAGCCTGGGGGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAATCTTCATAGCCATTATTTTGTTTAACTGCCTCAAATGCAGCCCAATTTCATCTTCTTGCCCCCTAAATCTGCTGCCGCCCTCTGTGTCTCATGCTTAGAACTCCTGTAGCTGTTCAGTGGCAAGGGTGGGGGTGCTGAGGGGGCAGAGGTGAGGTTGATGATTTGGAGCCAAGTGATCAGGCTTCACTTCCAGCCCTGCCATGCCGTGTGTGACTTTGGCATATCATTTCCCCTCTCTGGGCTTCAGTTTCCCAACTGCAAAGAGGAAAATAACACCTGCCGAACCTCACAAGGCTTACAGTTCTTAAAAGGGTTCTGTAAACCATGGAGGGTTTTGAAGAAGTGGGTCATGGATAAGATTCCCACCTACTGGGCTCCAACCTGTGATGAAGCTGAAGAGGGACTGGATGTGGGCCCGATCCTTGAAGTAGGAGCGGCTGAGGCTGTTCCATATGACATCGGAGACCTTCTTCACCAGCTCACGGCTGGAGACACCCCCTTCTCGAGGATAGAGGGACAGGTCGACGGCGCCTCGGATCTGGGCGGTGAAGCGGGCATAGAGGGCGGCGATGATAGACAGGTCGGCCACGGGAAAGTAGGTGAGGCCGCCAGGCGGGTCGGGGGCGGGGCTGGGCTGGAAGGTGAGCTCGGGAACGTTGGTAGGGATGACGCGGTTGACAGCCAGAAAATGCTCCACGAAGCCCAGCACCAAGGAAAGGAGCACCAGGTCCGGCTCCTCTCGGCCCAGCTCGGCAGCAAACAGGCGCACCACGTCGTCGATGGAGCGCAGCGGGAACAGCGTCTTCTGGGCGGCCTTCAGCCCCATGGCGGCGGGCGGTGGGCGGCGGCCTGCAAGGCAAGCCGGGGGAGGGAGGGTCGGGCAGGTTCGGCCGGGGAGCCTCCTCCCAGGGTCCGCTAAGGTTCCACCCGCCCCGACACACGCACAGCTCCCCTGCTTCCCCACCCTCTTCAGCCTCTGCTCACCGGCTTCCCCTCTTTTGTCGGTGAGACCCCTCAGCCGAGACTGCAGAGCCTTTTTGTCCCCCACAATTCCGGGACGCCCGGTACCCGATGGGGTGCGCCCCAAGCACCCCAATGAGGAGCCCCAATGGCCGCCCCGCCCCCTCTCTACGACTGTGCCCCCGGGGCTGTAAAGTCTGTCCAGAAAGCGCACCCAGGTCAAGCCCCCAAACCCCAAGGAGAGTCCTGGCCTCGGTCCCCCTCGCCCACCTCCGCGCTTACATCCCACACTAGGCACCGCGGCGCACGCCGCCCGGAGCCTGCTGGGACATGAAGTCCCGCCCCTAGGGTCGCACTACCCGCCGGGAAGTGGAGTCTGGGCCCACCCCTGCCCCGCTGAGCCTGGAAATAGTGGCGGGCCGGGCCGCTGCGCTGTGGCTTCTGGGATCTCTAGGTCCGCGGCTCCGGACACCTCCTTCCCGAGATACTCAGGGATTGGCCCTTCCCTTCAGGCCGACCAGGCAGGAAGCGTGCCCGCAGTGCCTTCTGGAAAATGTAGTCCGGGGGCACTACCTGCAGACTCGGGGTGGGAGGTCGCCGAGCTTCTGCCGGTTTTGCTGTCACGGGTCGGTCGGCAAGTTATGAGGAAAAAGATCAGGTTGCTTGATCCAGAAAAAATTAAAATAAAACAATATGAGAAAAACAGATACTTTTAAACACTGCCAGAGAGTAAATGTGTTCAGCCGCTTTAGCTGGGTATCAGTGTCTGTTAACATATAAAGATGCCTACTCTGTGTGCAGCACTCGTTTCCCACTTCCGCCCGCGAGATACTCTAACACGTGCTAAGAGTAGCTTTTGTTTGTTTGTTTTGAGACACGGTCTTTCTCTTTCGCCCAGGCTGGAATGCAGTGGCTCGATCTGGGCTCACTGCAGCCTCGACTTCACGGGCTCAAGCGATTCTCGTGCCTCAGCCTCCCGAGTAGCTGTGATCACAGGCGTGCGCCACCACTCCCGCCTAATTTTGTGTGTATGTGCATATACATAAATATATATACATATAACACACACACACACACACACACACACACATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGCAGAGACAGGGATTCCCAGCTACTTGGGAGGCTGAGGCGCGGGGAATCCCTTGAACCTGGGAGGCGGAGGCTTCAGTGAGCCAGAATCTTGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGATTCCGTCTTAAAAAAAAGTCCCAAGTAGCTGGGATTATAGGCGTCCGCCACCACACCCAGAAAACTTTTTGTATTTTAAGTAGAGATGGGGTTTCACCATGTTGGCCAGACTGGTCTCGAACCCCTAACCTCAAGTGATCTGCCCGCCTCAGCCTCCCAAAGTGCTAAAATTACAGGCGTGAACCACCTTACCCGGCCAAAGAGTAGTTATTTGTTTATTTGTTTTGAGACAGAGTCTCGCTCTGTCACTCAGGCTGGAGTGCAGTGGGGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTTCTGCCTCAGCTTCCCAAGTAGCCGGGATTACAGGTGCCTGCCACCACACTTGGCTAATTTTTGTATTTTACTTAGTAGAGACAGGGGTGTC | GTCCCTTGGGTGGCTTGGGCTACTACAGTATGAAGGGGACAAGGCTGGGGGGAGGGAACAATACCCGCTCAGCCACACCGGCATTGACTGTCTGGCCCCTGCGGTCCTCGTTGCCCTTGCCGTGCCAGGTGACCTCAGCTGTCTGCTCCCCATTGGGCCCAAACACTACCCAGGCATGATCCTCAGACAGGGCGAGGTGGACATCCCGGAGACCCAGGGCCTGGCAGGCCCCAACCACAGCAAAGGCCACACCGGAGCTGTCCAATTTGGTGCCTGTGGAAGGGGGAGGTAATGAAAGAGGGTCCTCTGTGCTTTAACATGGGGAAAGGGGGCCAGGTAGTGATGGGCCACACTCCCTCCCACTCCCTTTCCAAGCCTGTGACCCAACCTCAGATTCTCCTGCCCACTATCCCTCCATCCCTTCCCTCCCACGTGTTCAAAGACTCTCTCCCTGTTTACACCCTCTATGTCCAACAAGATACCTTTCTGGATATCCTGTAGCTGACCCAGCCTTTGGCCCTACCTCGTCTTTCTCTGCAACTCTATTATATATTCTATGGATTTAGGGATTCCATTTTACTGCACTTACTAGGTTAAAACAGGAATGGCAAAAACAGGACGCTGGCCAACACTCTCTGGCTATACACCCACCAACAAATAACCCTCATTTATCTCTGCACTCTTTTCCTGCTAAGCTGAGAAGCAGCCTCTGATTCCTTCTCAATATGGCACACCAGGATGGGATTGCCAGTCAACCGGGCTTGGTGCAAAGCTCTTTGCAAGCCCTGACTCTTAAGCCTTTTGAGGTCAAGCCCCTTCTCTGTCTCAAACATTTTTGACCAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCTCGTCTCTACTAAAAATCCAAAAAAAAATTAGCCAGGCATGGTGGCAGGCTCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGGCAGGAGAATGGCATGAAAGCAGGAGGCAGAGCTTGCAGTGAGCCGAGATTGCACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACGCCGTCTGAAAAAAAAAAAAAAATTTTCATAGGCCACCAGTTGCGGTGGCTCACACCTGTAATCCCAGCATTTGGGAGACTGAGGCGGGCAGATCACTTGAGCCCAAGAGTTCAAGACCAGTCTGGGCCACATAGTGAGACACCATCTCTACAAAAAAAATACAAAAAATTAACCAGCACCACGGTGCATGCCTGTACTCTCAGCTACTCAGGAGGCTGAGGTTGGAGGATCTCTGAGCCCAGGGAGACTGAGGCTGCAGTGAGCCATGATCACACCACTGCACTCCAGCCTGGGGGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAATCTTCATAGCCATTATTTTGTTTAACTGCCTCAAATGCAGCCCAATTTCATCTTCTTGCCCCCTAAATCTGCTGCCGCCCTCTGTGTCTCATGCTTAGAACTCCTGTAGCTGTTCAGTGGCAAGGGTGGGGGTGCTGAGGGGGCAGAGGTGAGGTTGATGATTTGGAGCCAAGTGATCAGGCTTCACTTCCAGCCCTGCCATGCCGTGTGTGACTTTGGCATATCATTTCCCCTCTCTGGGCTTCAGTTTCCCAACTGCAAAGAGGAAAATAACACCTGCCGAACCTCACAAGGCTTACAGTTCTTAAAAGGGTTCTGTAAACCATGGAGGGTTTTGAAGAAGTGGGTCATGGATAAGATTCCCACCTACTGGGCTCCAACCTGTGATGAAGCTGAAGAGGGACTGGATGTGGGCCCGATCCTTGAAGTAGGAGCGGCTGAGGCTGTTCCATATGACATCGGAGACCTTCTTCACCAGCTCACGGCTGGAGACACCCCCTTCTCGAGGATAGAGGGACAGGTCGACGGCGCCTCGGATCTGGGCGGTGAAGCGGGCATAGAGGGCGGCGATGATAGACAGGTCGGCCACGGGAAAAGTAGGTGAGGCCGCCAGGCGGGTCGGGGGCGGGGCTGGGCTGGAAGGTGAGCTCGGGAACGTTGGTAGGGATGACGCGGTTGACAGCCAGAAAATGCTCCACGAAGCCCAGCACCAAGGAAAGGAGCACCAGGTCCGGCTCCTCTCGGCCCAGCTCGGCAGCAAACAGGCGCACCACGTCGTCGATGGAGCGCAGCGGGAACAGCGTCTTCTGGGCGGCCTTCAGCCCCATGGCGGCGGGCGGTGGGCGGCGGCCTGCAAGGCAAGCCGGGGGAGGGAGGGTCGGGCAGGTTCGGCCGGGGAGCCTCCTCCCAGGGTCCGCTAAGGTTCCACCCGCCCCGACACACGCACAGCTCCCCTGCTTCCCCACCCTCTTCAGCCTCTGCTCACCGGCTTCCCCTCTTTTGTCGGTGAGACCCCTCAGCCGAGACTGCAGAGCCTTTTTGTCCCCCACAATTCCGGGACGCCCGGTACCCGATGGGGTGCGCCCCAAGCACCCCAATGAGGAGCCCCAATGGCCGCCCCGCCCCCTCTCTACGACTGTGCCCCCGGGGCTGTAAAGTCTGTCCAGAAAGCGCACCCAGGTCAAGCCCCCAAACCCCAAGGAGAGTCCTGGCCTCGGTCCCCCTCGCCCACCTCCGCGCTTACATCCCACACTAGGCACCGCGGCGCACGCCGCCCGGAGCCTGCTGGGACATGAAGTCCCGCCCCTAGGGTCGCACTACCCGCCGGGAAGTGGAGTCTGGGCCCACCCCTGCCCCGCTGAGCCTGGAAATAGTGGCGGGCCGGGCCGCTGCGCTGTGGCTTCTGGGATCTCTAGGTCCGCGGCTCCGGACACCTCCTTCCCGAGATACTCAGGGATTGGCCCTTCCCTTCAGGCCGACCAGGCAGGAAGCGTGCCCGCAGTGCCTTCTGGAAAATGTAGTCCGGGGGCACTACCTGCAGACTCGGGGTGGGAGGTCGCCGAGCTTCTGCCGGTTTTGCTGTCACGGGTCGGTCGGCAAGTTATGAGGAAAAAGATCAGGTTGCTTGATCCAGAAAAAATTAAAATAAAACAATATGAGAAAAACAGATACTTTTAAACACTGCCAGAGAGTAAATGTGTTCAGCCGCTTTAGCTGGGTATCAGTGTCTGTTAACATATAAAGATGCCTACTCTGTGTGCAGCACTCGTTTCCCACTTCCGCCCGCGAGATACTCTAACACGTGCTAAGAGTAGCTTTTGTTTGTTTGTTTTGAGACACGGTCTTTCTCTTTCGCCCAGGCTGGAATGCAGTGGCTCGATCTGGGCTCACTGCAGCCTCGACTTCACGGGCTCAAGCGATTCTCGTGCCTCAGCCTCCCGAGTAGCTGTGATCACAGGCGTGCGCCACCACTCCCGCCTAATTTTGTGTGTATGTGCATATACATAAATATATATACATATAACACACACACACACACACACACACACACATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGCAGAGACAGGGATTCCCAGCTACTTGGGAGGCTGAGGCGCGGGGAATCCCTTGAACCTGGGAGGCGGAGGCTTCAGTGAGCCAGAATCTTGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGATTCCGTCTTAAAAAAAAGTCCCAAGTAGCTGGGATTATAGGCGTCCGCCACCACACCCAGAAAACTTTTTGTATTTTAAGTAGAGATGGGGTTTCACCATGTTGGCCAGACTGGTCTCGAACCCCTAACCTCAAGTGATCTGCCCGCCTCAGCCTCCCAAAGTGCTAAAATTACAGGCGTGAACCACCTTACCCGGCCAAAGAGTAGTTATTTGTTTATTTGTTTTGAGACAGAGTCTCGCTCTGTCACTCAGGCTGGAGTGCAGTGGGGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTTCTGCCTCAGCTTCCCAAGTAGCCGGGATTACAGGTGCCTGCCACCACACTTGGCTAATTTTTGTATTTTACTTAGTAGAGACAGGGGTGT | pathogenic | 178,072 |
The chromosome 11, position 64809886 genetic variant in gene MEN1 (menin 1): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Hereditary_cancer-predisposing_syndrome'] | GGCTTGGGCTACTACAGTATGAAGGGGACAAGGCTGGGGGGAGGGAACAATACCCGCTCAGCCACACCGGCATTGACTGTCTGGCCCCTGCGGTCCTCGTTGCCCTTGCCGTGCCAGGTGACCTCAGCTGTCTGCTCCCCATTGGGCCCAAACACTACCCAGGCATGATCCTCAGACAGGGCGAGGTGGACATCCCGGAGACCCAGGGCCTGGCAGGCCCCAACCACAGCAAAGGCCACACCGGAGCTGTCCAATTTGGTGCCTGTGGAAGGGGGAGGTAATGAAAGAGGGTCCTCTGTGCTTTAACATGGGGAAAGGGGGCCAGGTAGTGATGGGCCACACTCCCTCCCACTCCCTTTCCAAGCCTGTGACCCAACCTCAGATTCTCCTGCCCACTATCCCTCCATCCCTTCCCTCCCACGTGTTCAAAGACTCTCTCCCTGTTTACACCCTCTATGTCCAACAAGATACCTTTCTGGATATCCTGTAGCTGACCCAGCCTTTGGCCCTACCTCGTCTTTCTCTGCAACTCTATTATATATTCTATGGATTTAGGGATTCCATTTTACTGCACTTACTAGGTTAAAACAGGAATGGCAAAAACAGGACGCTGGCCAACACTCTCTGGCTATACACCCACCAACAAATAACCCTCATTTATCTCTGCACTCTTTTCCTGCTAAGCTGAGAAGCAGCCTCTGATTCCTTCTCAATATGGCACACCAGGATGGGATTGCCAGTCAACCGGGCTTGGTGCAAAGCTCTTTGCAAGCCCTGACTCTTAAGCCTTTTGAGGTCAAGCCCCTTCTCTGTCTCAAACATTTTTGACCAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCTCGTCTCTACTAAAAATCCAAAAAAAAATTAGCCAGGCATGGTGGCAGGCTCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGGCAGGAGAATGGCATGAAAGCAGGAGGCAGAGCTTGCAGTGAGCCGAGATTGCACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACGCCGTCTGAAAAAAAAAAAAAAATTTTCATAGGCCACCAGTTGCGGTGGCTCACACCTGTAATCCCAGCATTTGGGAGACTGAGGCGGGCAGATCACTTGAGCCCAAGAGTTCAAGACCAGTCTGGGCCACATAGTGAGACACCATCTCTACAAAAAAAATACAAAAAATTAACCAGCACCACGGTGCATGCCTGTACTCTCAGCTACTCAGGAGGCTGAGGTTGGAGGATCTCTGAGCCCAGGGAGACTGAGGCTGCAGTGAGCCATGATCACACCACTGCACTCCAGCCTGGGGGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAATCTTCATAGCCATTATTTTGTTTAACTGCCTCAAATGCAGCCCAATTTCATCTTCTTGCCCCCTAAATCTGCTGCCGCCCTCTGTGTCTCATGCTTAGAACTCCTGTAGCTGTTCAGTGGCAAGGGTGGGGGTGCTGAGGGGGCAGAGGTGAGGTTGATGATTTGGAGCCAAGTGATCAGGCTTCACTTCCAGCCCTGCCATGCCGTGTGTGACTTTGGCATATCATTTCCCCTCTCTGGGCTTCAGTTTCCCAACTGCAAAGAGGAAAATAACACCTGCCGAACCTCACAAGGCTTACAGTTCTTAAAAGGGTTCTGTAAACCATGGAGGGTTTTGAAGAAGTGGGTCATGGATAAGATTCCCACCTACTGGGCTCCAACCTGTGATGAAGCTGAAGAGGGACTGGATGTGGGCCCGATCCTTGAAGTAGGAGCGGCTGAGGCTGTTCCATATGACATCGGAGACCTTCTTCACCAGCTCACGGCTGGAGACACCCCCTTCTCGAGGATAGAGGGACAGGTCGACGGCGCCTCGGATCTGGGCGGTGAAGCGGGCATAGAGGGCGGCGATGATAGACAGGTCGGCCACGGGAAAGTAGGTGAGGCCGCCAGGCGGGTCGGGGGCGGGGCTGGGCTGGAAGGTGAGCTCGGGAACGTTGGTAGGGATGACGCGGTTGACAGCCAGAAAATGCTCCACGAAGCCCAGCACCAAGGAAAGGAGCACCAGGTCCGGCTCCTCTCGGCCCAGCTCGGCAGCAAACAGGCGCACCACGTCGTCGATGGAGCGCAGCGGGAACAGCGTCTTCTGGGCGGCCTTCAGCCCCATGGCGGCGGGCGGTGGGCGGCGGCCTGCAAGGCAAGCCGGGGGAGGGAGGGTCGGGCAGGTTCGGCCGGGGAGCCTCCTCCCAGGGTCCGCTAAGGTTCCACCCGCCCCGACACACGCACAGCTCCCCTGCTTCCCCACCCTCTTCAGCCTCTGCTCACCGGCTTCCCCTCTTTTGTCGGTGAGACCCCTCAGCCGAGACTGCAGAGCCTTTTTGTCCCCCACAATTCCGGGACGCCCGGTACCCGATGGGGTGCGCCCCAAGCACCCCAATGAGGAGCCCCAATGGCCGCCCCGCCCCCTCTCTACGACTGTGCCCCCGGGGCTGTAAAGTCTGTCCAGAAAGCGCACCCAGGTCAAGCCCCCAAACCCCAAGGAGAGTCCTGGCCTCGGTCCCCCTCGCCCACCTCCGCGCTTACATCCCACACTAGGCACCGCGGCGCACGCCGCCCGGAGCCTGCTGGGACATGAAGTCCCGCCCCTAGGGTCGCACTACCCGCCGGGAAGTGGAGTCTGGGCCCACCCCTGCCCCGCTGAGCCTGGAAATAGTGGCGGGCCGGGCCGCTGCGCTGTGGCTTCTGGGATCTCTAGGTCCGCGGCTCCGGACACCTCCTTCCCGAGATACTCAGGGATTGGCCCTTCCCTTCAGGCCGACCAGGCAGGAAGCGTGCCCGCAGTGCCTTCTGGAAAATGTAGTCCGGGGGCACTACCTGCAGACTCGGGGTGGGAGGTCGCCGAGCTTCTGCCGGTTTTGCTGTCACGGGTCGGTCGGCAAGTTATGAGGAAAAAGATCAGGTTGCTTGATCCAGAAAAAATTAAAATAAAACAATATGAGAAAAACAGATACTTTTAAACACTGCCAGAGAGTAAATGTGTTCAGCCGCTTTAGCTGGGTATCAGTGTCTGTTAACATATAAAGATGCCTACTCTGTGTGCAGCACTCGTTTCCCACTTCCGCCCGCGAGATACTCTAACACGTGCTAAGAGTAGCTTTTGTTTGTTTGTTTTGAGACACGGTCTTTCTCTTTCGCCCAGGCTGGAATGCAGTGGCTCGATCTGGGCTCACTGCAGCCTCGACTTCACGGGCTCAAGCGATTCTCGTGCCTCAGCCTCCCGAGTAGCTGTGATCACAGGCGTGCGCCACCACTCCCGCCTAATTTTGTGTGTATGTGCATATACATAAATATATATACATATAACACACACACACACACACACACACACACATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGCAGAGACAGGGATTCCCAGCTACTTGGGAGGCTGAGGCGCGGGGAATCCCTTGAACCTGGGAGGCGGAGGCTTCAGTGAGCCAGAATCTTGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGATTCCGTCTTAAAAAAAAGTCCCAAGTAGCTGGGATTATAGGCGTCCGCCACCACACCCAGAAAACTTTTTGTATTTTAAGTAGAGATGGGGTTTCACCATGTTGGCCAGACTGGTCTCGAACCCCTAACCTCAAGTGATCTGCCCGCCTCAGCCTCCCAAAGTGCTAAAATTACAGGCGTGAACCACCTTACCCGGCCAAAGAGTAGTTATTTGTTTATTTGTTTTGAGACAGAGTCTCGCTCTGTCACTCAGGCTGGAGTGCAGTGGGGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTTCTGCCTCAGCTTCCCAAGTAGCCGGGATTACAGGTGCCTGCCACCACACTTGGCTAATTTTTGTATTTTACTTAGTAGAGACAGGGGTGTCACCATGTTGGT | GGCTTGGGCTACTACAGTATGAAGGGGACAAGGCTGGGGGGAGGGAACAATACCCGCTCAGCCACACCGGCATTGACTGTCTGGCCCCTGCGGTCCTCGTTGCCCTTGCCGTGCCAGGTGACCTCAGCTGTCTGCTCCCCATTGGGCCCAAACACTACCCAGGCATGATCCTCAGACAGGGCGAGGTGGACATCCCGGAGACCCAGGGCCTGGCAGGCCCCAACCACAGCAAAGGCCACACCGGAGCTGTCCAATTTGGTGCCTGTGGAAGGGGGAGGTAATGAAAGAGGGTCCTCTGTGCTTTAACATGGGGAAAGGGGGCCAGGTAGTGATGGGCCACACTCCCTCCCACTCCCTTTCCAAGCCTGTGACCCAACCTCAGATTCTCCTGCCCACTATCCCTCCATCCCTTCCCTCCCACGTGTTCAAAGACTCTCTCCCTGTTTACACCCTCTATGTCCAACAAGATACCTTTCTGGATATCCTGTAGCTGACCCAGCCTTTGGCCCTACCTCGTCTTTCTCTGCAACTCTATTATATATTCTATGGATTTAGGGATTCCATTTTACTGCACTTACTAGGTTAAAACAGGAATGGCAAAAACAGGACGCTGGCCAACACTCTCTGGCTATACACCCACCAACAAATAACCCTCATTTATCTCTGCACTCTTTTCCTGCTAAGCTGAGAAGCAGCCTCTGATTCCTTCTCAATATGGCACACCAGGATGGGATTGCCAGTCAACCGGGCTTGGTGCAAAGCTCTTTGCAAGCCCTGACTCTTAAGCCTTTTGAGGTCAAGCCCCTTCTCTGTCTCAAACATTTTTGACCAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCTCGTCTCTACTAAAAATCCAAAAAAAAATTAGCCAGGCATGGTGGCAGGCTCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGGCAGGAGAATGGCATGAAAGCAGGAGGCAGAGCTTGCAGTGAGCCGAGATTGCACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACGCCGTCTGAAAAAAAAAAAAAAATTTTCATAGGCCACCAGTTGCGGTGGCTCACACCTGTAATCCCAGCATTTGGGAGACTGAGGCGGGCAGATCACTTGAGCCCAAGAGTTCAAGACCAGTCTGGGCCACATAGTGAGACACCATCTCTACAAAAAAAATACAAAAAATTAACCAGCACCACGGTGCATGCCTGTACTCTCAGCTACTCAGGAGGCTGAGGTTGGAGGATCTCTGAGCCCAGGGAGACTGAGGCTGCAGTGAGCCATGATCACACCACTGCACTCCAGCCTGGGGGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAATCTTCATAGCCATTATTTTGTTTAACTGCCTCAAATGCAGCCCAATTTCATCTTCTTGCCCCCTAAATCTGCTGCCGCCCTCTGTGTCTCATGCTTAGAACTCCTGTAGCTGTTCAGTGGCAAGGGTGGGGGTGCTGAGGGGGCAGAGGTGAGGTTGATGATTTGGAGCCAAGTGATCAGGCTTCACTTCCAGCCCTGCCATGCCGTGTGTGACTTTGGCATATCATTTCCCCTCTCTGGGCTTCAGTTTCCCAACTGCAAAGAGGAAAATAACACCTGCCGAACCTCACAAGGCTTACAGTTCTTAAAAGGGTTCTGTAAACCATGGAGGGTTTTGAAGAAGTGGGTCATGGATAAGATTCCCACCTACTGGGCTCCAACCTGTGATGAAGCTGAAGAGGGACTGGATGTGGGCCCGATCCTTGAAGTAGGAGCGGCTGAGGCTGTTCCATATGACATCGGAGACCTTCTTCACCAGCTCACGGCTGGAGACACCCCCTTCTCGAGGATAGAGGGACAGGTCGACGGCGCCTCGGATCTGGGCGGTGAAGCGGGCATAGAGGGCGGCGATGATAGACAGGTCGGCCACGGGAAAGTAGGTGAGCCGCCAGGCGGGTCGGGGGCGGGGCTGGGCTGGAAGGTGAGCTCGGGAACGTTGGTAGGGATGACGCGGTTGACAGCCAGAAAATGCTCCACGAAGCCCAGCACCAAGGAAAGGAGCACCAGGTCCGGCTCCTCTCGGCCCAGCTCGGCAGCAAACAGGCGCACCACGTCGTCGATGGAGCGCAGCGGGAACAGCGTCTTCTGGGCGGCCTTCAGCCCCATGGCGGCGGGCGGTGGGCGGCGGCCTGCAAGGCAAGCCGGGGGAGGGAGGGTCGGGCAGGTTCGGCCGGGGAGCCTCCTCCCAGGGTCCGCTAAGGTTCCACCCGCCCCGACACACGCACAGCTCCCCTGCTTCCCCACCCTCTTCAGCCTCTGCTCACCGGCTTCCCCTCTTTTGTCGGTGAGACCCCTCAGCCGAGACTGCAGAGCCTTTTTGTCCCCCACAATTCCGGGACGCCCGGTACCCGATGGGGTGCGCCCCAAGCACCCCAATGAGGAGCCCCAATGGCCGCCCCGCCCCCTCTCTACGACTGTGCCCCCGGGGCTGTAAAGTCTGTCCAGAAAGCGCACCCAGGTCAAGCCCCCAAACCCCAAGGAGAGTCCTGGCCTCGGTCCCCCTCGCCCACCTCCGCGCTTACATCCCACACTAGGCACCGCGGCGCACGCCGCCCGGAGCCTGCTGGGACATGAAGTCCCGCCCCTAGGGTCGCACTACCCGCCGGGAAGTGGAGTCTGGGCCCACCCCTGCCCCGCTGAGCCTGGAAATAGTGGCGGGCCGGGCCGCTGCGCTGTGGCTTCTGGGATCTCTAGGTCCGCGGCTCCGGACACCTCCTTCCCGAGATACTCAGGGATTGGCCCTTCCCTTCAGGCCGACCAGGCAGGAAGCGTGCCCGCAGTGCCTTCTGGAAAATGTAGTCCGGGGGCACTACCTGCAGACTCGGGGTGGGAGGTCGCCGAGCTTCTGCCGGTTTTGCTGTCACGGGTCGGTCGGCAAGTTATGAGGAAAAAGATCAGGTTGCTTGATCCAGAAAAAATTAAAATAAAACAATATGAGAAAAACAGATACTTTTAAACACTGCCAGAGAGTAAATGTGTTCAGCCGCTTTAGCTGGGTATCAGTGTCTGTTAACATATAAAGATGCCTACTCTGTGTGCAGCACTCGTTTCCCACTTCCGCCCGCGAGATACTCTAACACGTGCTAAGAGTAGCTTTTGTTTGTTTGTTTTGAGACACGGTCTTTCTCTTTCGCCCAGGCTGGAATGCAGTGGCTCGATCTGGGCTCACTGCAGCCTCGACTTCACGGGCTCAAGCGATTCTCGTGCCTCAGCCTCCCGAGTAGCTGTGATCACAGGCGTGCGCCACCACTCCCGCCTAATTTTGTGTGTATGTGCATATACATAAATATATATACATATAACACACACACACACACACACACACACACATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGCAGAGACAGGGATTCCCAGCTACTTGGGAGGCTGAGGCGCGGGGAATCCCTTGAACCTGGGAGGCGGAGGCTTCAGTGAGCCAGAATCTTGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGATTCCGTCTTAAAAAAAAGTCCCAAGTAGCTGGGATTATAGGCGTCCGCCACCACACCCAGAAAACTTTTTGTATTTTAAGTAGAGATGGGGTTTCACCATGTTGGCCAGACTGGTCTCGAACCCCTAACCTCAAGTGATCTGCCCGCCTCAGCCTCCCAAAGTGCTAAAATTACAGGCGTGAACCACCTTACCCGGCCAAAGAGTAGTTATTTGTTTATTTGTTTTGAGACAGAGTCTCGCTCTGTCACTCAGGCTGGAGTGCAGTGGGGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTTCTGCCTCAGCTTCCCAAGTAGCCGGGATTACAGGTGCCTGCCACCACACTTGGCTAATTTTTGTATTTTACTTAGTAGAGACAGGGGTGTCACCATGTTGGTN | pathogenic | 178,076 |
Variant in gene MEN1 (menin 1), located at chromosome 11 position 64809897: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Multiple_endocrine_neoplasia,_type_1'] | CTACAGTATGAAGGGGACAAGGCTGGGGGGAGGGAACAATACCCGCTCAGCCACACCGGCATTGACTGTCTGGCCCCTGCGGTCCTCGTTGCCCTTGCCGTGCCAGGTGACCTCAGCTGTCTGCTCCCCATTGGGCCCAAACACTACCCAGGCATGATCCTCAGACAGGGCGAGGTGGACATCCCGGAGACCCAGGGCCTGGCAGGCCCCAACCACAGCAAAGGCCACACCGGAGCTGTCCAATTTGGTGCCTGTGGAAGGGGGAGGTAATGAAAGAGGGTCCTCTGTGCTTTAACATGGGGAAAGGGGGCCAGGTAGTGATGGGCCACACTCCCTCCCACTCCCTTTCCAAGCCTGTGACCCAACCTCAGATTCTCCTGCCCACTATCCCTCCATCCCTTCCCTCCCACGTGTTCAAAGACTCTCTCCCTGTTTACACCCTCTATGTCCAACAAGATACCTTTCTGGATATCCTGTAGCTGACCCAGCCTTTGGCCCTACCTCGTCTTTCTCTGCAACTCTATTATATATTCTATGGATTTAGGGATTCCATTTTACTGCACTTACTAGGTTAAAACAGGAATGGCAAAAACAGGACGCTGGCCAACACTCTCTGGCTATACACCCACCAACAAATAACCCTCATTTATCTCTGCACTCTTTTCCTGCTAAGCTGAGAAGCAGCCTCTGATTCCTTCTCAATATGGCACACCAGGATGGGATTGCCAGTCAACCGGGCTTGGTGCAAAGCTCTTTGCAAGCCCTGACTCTTAAGCCTTTTGAGGTCAAGCCCCTTCTCTGTCTCAAACATTTTTGACCAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCTCGTCTCTACTAAAAATCCAAAAAAAAATTAGCCAGGCATGGTGGCAGGCTCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGGCAGGAGAATGGCATGAAAGCAGGAGGCAGAGCTTGCAGTGAGCCGAGATTGCACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACGCCGTCTGAAAAAAAAAAAAAAATTTTCATAGGCCACCAGTTGCGGTGGCTCACACCTGTAATCCCAGCATTTGGGAGACTGAGGCGGGCAGATCACTTGAGCCCAAGAGTTCAAGACCAGTCTGGGCCACATAGTGAGACACCATCTCTACAAAAAAAATACAAAAAATTAACCAGCACCACGGTGCATGCCTGTACTCTCAGCTACTCAGGAGGCTGAGGTTGGAGGATCTCTGAGCCCAGGGAGACTGAGGCTGCAGTGAGCCATGATCACACCACTGCACTCCAGCCTGGGGGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAATCTTCATAGCCATTATTTTGTTTAACTGCCTCAAATGCAGCCCAATTTCATCTTCTTGCCCCCTAAATCTGCTGCCGCCCTCTGTGTCTCATGCTTAGAACTCCTGTAGCTGTTCAGTGGCAAGGGTGGGGGTGCTGAGGGGGCAGAGGTGAGGTTGATGATTTGGAGCCAAGTGATCAGGCTTCACTTCCAGCCCTGCCATGCCGTGTGTGACTTTGGCATATCATTTCCCCTCTCTGGGCTTCAGTTTCCCAACTGCAAAGAGGAAAATAACACCTGCCGAACCTCACAAGGCTTACAGTTCTTAAAAGGGTTCTGTAAACCATGGAGGGTTTTGAAGAAGTGGGTCATGGATAAGATTCCCACCTACTGGGCTCCAACCTGTGATGAAGCTGAAGAGGGACTGGATGTGGGCCCGATCCTTGAAGTAGGAGCGGCTGAGGCTGTTCCATATGACATCGGAGACCTTCTTCACCAGCTCACGGCTGGAGACACCCCCTTCTCGAGGATAGAGGGACAGGTCGACGGCGCCTCGGATCTGGGCGGTGAAGCGGGCATAGAGGGCGGCGATGATAGACAGGTCGGCCACGGGAAAGTAGGTGAGGCCGCCAGGCGGGTCGGGGGCGGGGCTGGGCTGGAAGGTGAGCTCGGGAACGTTGGTAGGGATGACGCGGTTGACAGCCAGAAAATGCTCCACGAAGCCCAGCACCAAGGAAAGGAGCACCAGGTCCGGCTCCTCTCGGCCCAGCTCGGCAGCAAACAGGCGCACCACGTCGTCGATGGAGCGCAGCGGGAACAGCGTCTTCTGGGCGGCCTTCAGCCCCATGGCGGCGGGCGGTGGGCGGCGGCCTGCAAGGCAAGCCGGGGGAGGGAGGGTCGGGCAGGTTCGGCCGGGGAGCCTCCTCCCAGGGTCCGCTAAGGTTCCACCCGCCCCGACACACGCACAGCTCCCCTGCTTCCCCACCCTCTTCAGCCTCTGCTCACCGGCTTCCCCTCTTTTGTCGGTGAGACCCCTCAGCCGAGACTGCAGAGCCTTTTTGTCCCCCACAATTCCGGGACGCCCGGTACCCGATGGGGTGCGCCCCAAGCACCCCAATGAGGAGCCCCAATGGCCGCCCCGCCCCCTCTCTACGACTGTGCCCCCGGGGCTGTAAAGTCTGTCCAGAAAGCGCACCCAGGTCAAGCCCCCAAACCCCAAGGAGAGTCCTGGCCTCGGTCCCCCTCGCCCACCTCCGCGCTTACATCCCACACTAGGCACCGCGGCGCACGCCGCCCGGAGCCTGCTGGGACATGAAGTCCCGCCCCTAGGGTCGCACTACCCGCCGGGAAGTGGAGTCTGGGCCCACCCCTGCCCCGCTGAGCCTGGAAATAGTGGCGGGCCGGGCCGCTGCGCTGTGGCTTCTGGGATCTCTAGGTCCGCGGCTCCGGACACCTCCTTCCCGAGATACTCAGGGATTGGCCCTTCCCTTCAGGCCGACCAGGCAGGAAGCGTGCCCGCAGTGCCTTCTGGAAAATGTAGTCCGGGGGCACTACCTGCAGACTCGGGGTGGGAGGTCGCCGAGCTTCTGCCGGTTTTGCTGTCACGGGTCGGTCGGCAAGTTATGAGGAAAAAGATCAGGTTGCTTGATCCAGAAAAAATTAAAATAAAACAATATGAGAAAAACAGATACTTTTAAACACTGCCAGAGAGTAAATGTGTTCAGCCGCTTTAGCTGGGTATCAGTGTCTGTTAACATATAAAGATGCCTACTCTGTGTGCAGCACTCGTTTCCCACTTCCGCCCGCGAGATACTCTAACACGTGCTAAGAGTAGCTTTTGTTTGTTTGTTTTGAGACACGGTCTTTCTCTTTCGCCCAGGCTGGAATGCAGTGGCTCGATCTGGGCTCACTGCAGCCTCGACTTCACGGGCTCAAGCGATTCTCGTGCCTCAGCCTCCCGAGTAGCTGTGATCACAGGCGTGCGCCACCACTCCCGCCTAATTTTGTGTGTATGTGCATATACATAAATATATATACATATAACACACACACACACACACACACACACACATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGCAGAGACAGGGATTCCCAGCTACTTGGGAGGCTGAGGCGCGGGGAATCCCTTGAACCTGGGAGGCGGAGGCTTCAGTGAGCCAGAATCTTGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGATTCCGTCTTAAAAAAAAGTCCCAAGTAGCTGGGATTATAGGCGTCCGCCACCACACCCAGAAAACTTTTTGTATTTTAAGTAGAGATGGGGTTTCACCATGTTGGCCAGACTGGTCTCGAACCCCTAACCTCAAGTGATCTGCCCGCCTCAGCCTCCCAAAGTGCTAAAATTACAGGCGTGAACCACCTTACCCGGCCAAAGAGTAGTTATTTGTTTATTTGTTTTGAGACAGAGTCTCGCTCTGTCACTCAGGCTGGAGTGCAGTGGGGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTTCTGCCTCAGCTTCCCAAGTAGCCGGGATTACAGGTGCCTGCCACCACACTTGGCTAATTTTTGTATTTTACTTAGTAGAGACAGGGGTGTCACCATGTTGGTCAGGCTGGTCT | CTACAGTATGAAGGGGACAAGGCTGGGGGGAGGGAACAATACCCGCTCAGCCACACCGGCATTGACTGTCTGGCCCCTGCGGTCCTCGTTGCCCTTGCCGTGCCAGGTGACCTCAGCTGTCTGCTCCCCATTGGGCCCAAACACTACCCAGGCATGATCCTCAGACAGGGCGAGGTGGACATCCCGGAGACCCAGGGCCTGGCAGGCCCCAACCACAGCAAAGGCCACACCGGAGCTGTCCAATTTGGTGCCTGTGGAAGGGGGAGGTAATGAAAGAGGGTCCTCTGTGCTTTAACATGGGGAAAGGGGGCCAGGTAGTGATGGGCCACACTCCCTCCCACTCCCTTTCCAAGCCTGTGACCCAACCTCAGATTCTCCTGCCCACTATCCCTCCATCCCTTCCCTCCCACGTGTTCAAAGACTCTCTCCCTGTTTACACCCTCTATGTCCAACAAGATACCTTTCTGGATATCCTGTAGCTGACCCAGCCTTTGGCCCTACCTCGTCTTTCTCTGCAACTCTATTATATATTCTATGGATTTAGGGATTCCATTTTACTGCACTTACTAGGTTAAAACAGGAATGGCAAAAACAGGACGCTGGCCAACACTCTCTGGCTATACACCCACCAACAAATAACCCTCATTTATCTCTGCACTCTTTTCCTGCTAAGCTGAGAAGCAGCCTCTGATTCCTTCTCAATATGGCACACCAGGATGGGATTGCCAGTCAACCGGGCTTGGTGCAAAGCTCTTTGCAAGCCCTGACTCTTAAGCCTTTTGAGGTCAAGCCCCTTCTCTGTCTCAAACATTTTTGACCAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCTCGTCTCTACTAAAAATCCAAAAAAAAATTAGCCAGGCATGGTGGCAGGCTCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGGCAGGAGAATGGCATGAAAGCAGGAGGCAGAGCTTGCAGTGAGCCGAGATTGCACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACGCCGTCTGAAAAAAAAAAAAAAATTTTCATAGGCCACCAGTTGCGGTGGCTCACACCTGTAATCCCAGCATTTGGGAGACTGAGGCGGGCAGATCACTTGAGCCCAAGAGTTCAAGACCAGTCTGGGCCACATAGTGAGACACCATCTCTACAAAAAAAATACAAAAAATTAACCAGCACCACGGTGCATGCCTGTACTCTCAGCTACTCAGGAGGCTGAGGTTGGAGGATCTCTGAGCCCAGGGAGACTGAGGCTGCAGTGAGCCATGATCACACCACTGCACTCCAGCCTGGGGGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAATCTTCATAGCCATTATTTTGTTTAACTGCCTCAAATGCAGCCCAATTTCATCTTCTTGCCCCCTAAATCTGCTGCCGCCCTCTGTGTCTCATGCTTAGAACTCCTGTAGCTGTTCAGTGGCAAGGGTGGGGGTGCTGAGGGGGCAGAGGTGAGGTTGATGATTTGGAGCCAAGTGATCAGGCTTCACTTCCAGCCCTGCCATGCCGTGTGTGACTTTGGCATATCATTTCCCCTCTCTGGGCTTCAGTTTCCCAACTGCAAAGAGGAAAATAACACCTGCCGAACCTCACAAGGCTTACAGTTCTTAAAAGGGTTCTGTAAACCATGGAGGGTTTTGAAGAAGTGGGTCATGGATAAGATTCCCACCTACTGGGCTCCAACCTGTGATGAAGCTGAAGAGGGACTGGATGTGGGCCCGATCCTTGAAGTAGGAGCGGCTGAGGCTGTTCCATATGACATCGGAGACCTTCTTCACCAGCTCACGGCTGGAGACACCCCCTTCTCGAGGATAGAGGGACAGGTCGACGGCGCCTCGGATCTGGGCGGTGAAGCGGGCATAGAGGGCGGCGATGATAGACAGGTCGGCCACGGGAAAGTAGGTGAGGCCGCCAGGCGTCGGGGGCGGGGCTGGGCTGGAAGGTGAGCTCGGGAACGTTGGTAGGGATGACGCGGTTGACAGCCAGAAAATGCTCCACGAAGCCCAGCACCAAGGAAAGGAGCACCAGGTCCGGCTCCTCTCGGCCCAGCTCGGCAGCAAACAGGCGCACCACGTCGTCGATGGAGCGCAGCGGGAACAGCGTCTTCTGGGCGGCCTTCAGCCCCATGGCGGCGGGCGGTGGGCGGCGGCCTGCAAGGCAAGCCGGGGGAGGGAGGGTCGGGCAGGTTCGGCCGGGGAGCCTCCTCCCAGGGTCCGCTAAGGTTCCACCCGCCCCGACACACGCACAGCTCCCCTGCTTCCCCACCCTCTTCAGCCTCTGCTCACCGGCTTCCCCTCTTTTGTCGGTGAGACCCCTCAGCCGAGACTGCAGAGCCTTTTTGTCCCCCACAATTCCGGGACGCCCGGTACCCGATGGGGTGCGCCCCAAGCACCCCAATGAGGAGCCCCAATGGCCGCCCCGCCCCCTCTCTACGACTGTGCCCCCGGGGCTGTAAAGTCTGTCCAGAAAGCGCACCCAGGTCAAGCCCCCAAACCCCAAGGAGAGTCCTGGCCTCGGTCCCCCTCGCCCACCTCCGCGCTTACATCCCACACTAGGCACCGCGGCGCACGCCGCCCGGAGCCTGCTGGGACATGAAGTCCCGCCCCTAGGGTCGCACTACCCGCCGGGAAGTGGAGTCTGGGCCCACCCCTGCCCCGCTGAGCCTGGAAATAGTGGCGGGCCGGGCCGCTGCGCTGTGGCTTCTGGGATCTCTAGGTCCGCGGCTCCGGACACCTCCTTCCCGAGATACTCAGGGATTGGCCCTTCCCTTCAGGCCGACCAGGCAGGAAGCGTGCCCGCAGTGCCTTCTGGAAAATGTAGTCCGGGGGCACTACCTGCAGACTCGGGGTGGGAGGTCGCCGAGCTTCTGCCGGTTTTGCTGTCACGGGTCGGTCGGCAAGTTATGAGGAAAAAGATCAGGTTGCTTGATCCAGAAAAAATTAAAATAAAACAATATGAGAAAAACAGATACTTTTAAACACTGCCAGAGAGTAAATGTGTTCAGCCGCTTTAGCTGGGTATCAGTGTCTGTTAACATATAAAGATGCCTACTCTGTGTGCAGCACTCGTTTCCCACTTCCGCCCGCGAGATACTCTAACACGTGCTAAGAGTAGCTTTTGTTTGTTTGTTTTGAGACACGGTCTTTCTCTTTCGCCCAGGCTGGAATGCAGTGGCTCGATCTGGGCTCACTGCAGCCTCGACTTCACGGGCTCAAGCGATTCTCGTGCCTCAGCCTCCCGAGTAGCTGTGATCACAGGCGTGCGCCACCACTCCCGCCTAATTTTGTGTGTATGTGCATATACATAAATATATATACATATAACACACACACACACACACACACACACACATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGCAGAGACAGGGATTCCCAGCTACTTGGGAGGCTGAGGCGCGGGGAATCCCTTGAACCTGGGAGGCGGAGGCTTCAGTGAGCCAGAATCTTGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGATTCCGTCTTAAAAAAAAGTCCCAAGTAGCTGGGATTATAGGCGTCCGCCACCACACCCAGAAAACTTTTTGTATTTTAAGTAGAGATGGGGTTTCACCATGTTGGCCAGACTGGTCTCGAACCCCTAACCTCAAGTGATCTGCCCGCCTCAGCCTCCCAAAGTGCTAAAATTACAGGCGTGAACCACCTTACCCGGCCAAAGAGTAGTTATTTGTTTATTTGTTTTGAGACAGAGTCTCGCTCTGTCACTCAGGCTGGAGTGCAGTGGGGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTTCTGCCTCAGCTTCCCAAGTAGCCGGGATTACAGGTGCCTGCCACCACACTTGGCTAATTTTTGTATTTTACTTAGTAGAGACAGGGGTGTCACCATGTTGGTCAGGCTGGTCTNN | pathogenic | 178,081 |
A mutation at chromosome position 64809902 on chromosome 11 in gene MEN1 (menin 1): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Multiple_endocrine_neoplasia,_type_1'] | GTATGAAGGGGACAAGGCTGGGGGGAGGGAACAATACCCGCTCAGCCACACCGGCATTGACTGTCTGGCCCCTGCGGTCCTCGTTGCCCTTGCCGTGCCAGGTGACCTCAGCTGTCTGCTCCCCATTGGGCCCAAACACTACCCAGGCATGATCCTCAGACAGGGCGAGGTGGACATCCCGGAGACCCAGGGCCTGGCAGGCCCCAACCACAGCAAAGGCCACACCGGAGCTGTCCAATTTGGTGCCTGTGGAAGGGGGAGGTAATGAAAGAGGGTCCTCTGTGCTTTAACATGGGGAAAGGGGGCCAGGTAGTGATGGGCCACACTCCCTCCCACTCCCTTTCCAAGCCTGTGACCCAACCTCAGATTCTCCTGCCCACTATCCCTCCATCCCTTCCCTCCCACGTGTTCAAAGACTCTCTCCCTGTTTACACCCTCTATGTCCAACAAGATACCTTTCTGGATATCCTGTAGCTGACCCAGCCTTTGGCCCTACCTCGTCTTTCTCTGCAACTCTATTATATATTCTATGGATTTAGGGATTCCATTTTACTGCACTTACTAGGTTAAAACAGGAATGGCAAAAACAGGACGCTGGCCAACACTCTCTGGCTATACACCCACCAACAAATAACCCTCATTTATCTCTGCACTCTTTTCCTGCTAAGCTGAGAAGCAGCCTCTGATTCCTTCTCAATATGGCACACCAGGATGGGATTGCCAGTCAACCGGGCTTGGTGCAAAGCTCTTTGCAAGCCCTGACTCTTAAGCCTTTTGAGGTCAAGCCCCTTCTCTGTCTCAAACATTTTTGACCAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCTCGTCTCTACTAAAAATCCAAAAAAAAATTAGCCAGGCATGGTGGCAGGCTCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGGCAGGAGAATGGCATGAAAGCAGGAGGCAGAGCTTGCAGTGAGCCGAGATTGCACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACGCCGTCTGAAAAAAAAAAAAAAATTTTCATAGGCCACCAGTTGCGGTGGCTCACACCTGTAATCCCAGCATTTGGGAGACTGAGGCGGGCAGATCACTTGAGCCCAAGAGTTCAAGACCAGTCTGGGCCACATAGTGAGACACCATCTCTACAAAAAAAATACAAAAAATTAACCAGCACCACGGTGCATGCCTGTACTCTCAGCTACTCAGGAGGCTGAGGTTGGAGGATCTCTGAGCCCAGGGAGACTGAGGCTGCAGTGAGCCATGATCACACCACTGCACTCCAGCCTGGGGGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAATCTTCATAGCCATTATTTTGTTTAACTGCCTCAAATGCAGCCCAATTTCATCTTCTTGCCCCCTAAATCTGCTGCCGCCCTCTGTGTCTCATGCTTAGAACTCCTGTAGCTGTTCAGTGGCAAGGGTGGGGGTGCTGAGGGGGCAGAGGTGAGGTTGATGATTTGGAGCCAAGTGATCAGGCTTCACTTCCAGCCCTGCCATGCCGTGTGTGACTTTGGCATATCATTTCCCCTCTCTGGGCTTCAGTTTCCCAACTGCAAAGAGGAAAATAACACCTGCCGAACCTCACAAGGCTTACAGTTCTTAAAAGGGTTCTGTAAACCATGGAGGGTTTTGAAGAAGTGGGTCATGGATAAGATTCCCACCTACTGGGCTCCAACCTGTGATGAAGCTGAAGAGGGACTGGATGTGGGCCCGATCCTTGAAGTAGGAGCGGCTGAGGCTGTTCCATATGACATCGGAGACCTTCTTCACCAGCTCACGGCTGGAGACACCCCCTTCTCGAGGATAGAGGGACAGGTCGACGGCGCCTCGGATCTGGGCGGTGAAGCGGGCATAGAGGGCGGCGATGATAGACAGGTCGGCCACGGGAAAGTAGGTGAGGCCGCCAGGCGGGTCGGGGGCGGGGCTGGGCTGGAAGGTGAGCTCGGGAACGTTGGTAGGGATGACGCGGTTGACAGCCAGAAAATGCTCCACGAAGCCCAGCACCAAGGAAAGGAGCACCAGGTCCGGCTCCTCTCGGCCCAGCTCGGCAGCAAACAGGCGCACCACGTCGTCGATGGAGCGCAGCGGGAACAGCGTCTTCTGGGCGGCCTTCAGCCCCATGGCGGCGGGCGGTGGGCGGCGGCCTGCAAGGCAAGCCGGGGGAGGGAGGGTCGGGCAGGTTCGGCCGGGGAGCCTCCTCCCAGGGTCCGCTAAGGTTCCACCCGCCCCGACACACGCACAGCTCCCCTGCTTCCCCACCCTCTTCAGCCTCTGCTCACCGGCTTCCCCTCTTTTGTCGGTGAGACCCCTCAGCCGAGACTGCAGAGCCTTTTTGTCCCCCACAATTCCGGGACGCCCGGTACCCGATGGGGTGCGCCCCAAGCACCCCAATGAGGAGCCCCAATGGCCGCCCCGCCCCCTCTCTACGACTGTGCCCCCGGGGCTGTAAAGTCTGTCCAGAAAGCGCACCCAGGTCAAGCCCCCAAACCCCAAGGAGAGTCCTGGCCTCGGTCCCCCTCGCCCACCTCCGCGCTTACATCCCACACTAGGCACCGCGGCGCACGCCGCCCGGAGCCTGCTGGGACATGAAGTCCCGCCCCTAGGGTCGCACTACCCGCCGGGAAGTGGAGTCTGGGCCCACCCCTGCCCCGCTGAGCCTGGAAATAGTGGCGGGCCGGGCCGCTGCGCTGTGGCTTCTGGGATCTCTAGGTCCGCGGCTCCGGACACCTCCTTCCCGAGATACTCAGGGATTGGCCCTTCCCTTCAGGCCGACCAGGCAGGAAGCGTGCCCGCAGTGCCTTCTGGAAAATGTAGTCCGGGGGCACTACCTGCAGACTCGGGGTGGGAGGTCGCCGAGCTTCTGCCGGTTTTGCTGTCACGGGTCGGTCGGCAAGTTATGAGGAAAAAGATCAGGTTGCTTGATCCAGAAAAAATTAAAATAAAACAATATGAGAAAAACAGATACTTTTAAACACTGCCAGAGAGTAAATGTGTTCAGCCGCTTTAGCTGGGTATCAGTGTCTGTTAACATATAAAGATGCCTACTCTGTGTGCAGCACTCGTTTCCCACTTCCGCCCGCGAGATACTCTAACACGTGCTAAGAGTAGCTTTTGTTTGTTTGTTTTGAGACACGGTCTTTCTCTTTCGCCCAGGCTGGAATGCAGTGGCTCGATCTGGGCTCACTGCAGCCTCGACTTCACGGGCTCAAGCGATTCTCGTGCCTCAGCCTCCCGAGTAGCTGTGATCACAGGCGTGCGCCACCACTCCCGCCTAATTTTGTGTGTATGTGCATATACATAAATATATATACATATAACACACACACACACACACACACACACACATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGCAGAGACAGGGATTCCCAGCTACTTGGGAGGCTGAGGCGCGGGGAATCCCTTGAACCTGGGAGGCGGAGGCTTCAGTGAGCCAGAATCTTGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGATTCCGTCTTAAAAAAAAGTCCCAAGTAGCTGGGATTATAGGCGTCCGCCACCACACCCAGAAAACTTTTTGTATTTTAAGTAGAGATGGGGTTTCACCATGTTGGCCAGACTGGTCTCGAACCCCTAACCTCAAGTGATCTGCCCGCCTCAGCCTCCCAAAGTGCTAAAATTACAGGCGTGAACCACCTTACCCGGCCAAAGAGTAGTTATTTGTTTATTTGTTTTGAGACAGAGTCTCGCTCTGTCACTCAGGCTGGAGTGCAGTGGGGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTTCTGCCTCAGCTTCCCAAGTAGCCGGGATTACAGGTGCCTGCCACCACACTTGGCTAATTTTTGTATTTTACTTAGTAGAGACAGGGGTGTCACCATGTTGGTCAGGCTGGTCTCGAAC | GTATGAAGGGGACAAGGCTGGGGGGAGGGAACAATACCCGCTCAGCCACACCGGCATTGACTGTCTGGCCCCTGCGGTCCTCGTTGCCCTTGCCGTGCCAGGTGACCTCAGCTGTCTGCTCCCCATTGGGCCCAAACACTACCCAGGCATGATCCTCAGACAGGGCGAGGTGGACATCCCGGAGACCCAGGGCCTGGCAGGCCCCAACCACAGCAAAGGCCACACCGGAGCTGTCCAATTTGGTGCCTGTGGAAGGGGGAGGTAATGAAAGAGGGTCCTCTGTGCTTTAACATGGGGAAAGGGGGCCAGGTAGTGATGGGCCACACTCCCTCCCACTCCCTTTCCAAGCCTGTGACCCAACCTCAGATTCTCCTGCCCACTATCCCTCCATCCCTTCCCTCCCACGTGTTCAAAGACTCTCTCCCTGTTTACACCCTCTATGTCCAACAAGATACCTTTCTGGATATCCTGTAGCTGACCCAGCCTTTGGCCCTACCTCGTCTTTCTCTGCAACTCTATTATATATTCTATGGATTTAGGGATTCCATTTTACTGCACTTACTAGGTTAAAACAGGAATGGCAAAAACAGGACGCTGGCCAACACTCTCTGGCTATACACCCACCAACAAATAACCCTCATTTATCTCTGCACTCTTTTCCTGCTAAGCTGAGAAGCAGCCTCTGATTCCTTCTCAATATGGCACACCAGGATGGGATTGCCAGTCAACCGGGCTTGGTGCAAAGCTCTTTGCAAGCCCTGACTCTTAAGCCTTTTGAGGTCAAGCCCCTTCTCTGTCTCAAACATTTTTGACCAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCTCGTCTCTACTAAAAATCCAAAAAAAAATTAGCCAGGCATGGTGGCAGGCTCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGGCAGGAGAATGGCATGAAAGCAGGAGGCAGAGCTTGCAGTGAGCCGAGATTGCACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACGCCGTCTGAAAAAAAAAAAAAAATTTTCATAGGCCACCAGTTGCGGTGGCTCACACCTGTAATCCCAGCATTTGGGAGACTGAGGCGGGCAGATCACTTGAGCCCAAGAGTTCAAGACCAGTCTGGGCCACATAGTGAGACACCATCTCTACAAAAAAAATACAAAAAATTAACCAGCACCACGGTGCATGCCTGTACTCTCAGCTACTCAGGAGGCTGAGGTTGGAGGATCTCTGAGCCCAGGGAGACTGAGGCTGCAGTGAGCCATGATCACACCACTGCACTCCAGCCTGGGGGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAATCTTCATAGCCATTATTTTGTTTAACTGCCTCAAATGCAGCCCAATTTCATCTTCTTGCCCCCTAAATCTGCTGCCGCCCTCTGTGTCTCATGCTTAGAACTCCTGTAGCTGTTCAGTGGCAAGGGTGGGGGTGCTGAGGGGGCAGAGGTGAGGTTGATGATTTGGAGCCAAGTGATCAGGCTTCACTTCCAGCCCTGCCATGCCGTGTGTGACTTTGGCATATCATTTCCCCTCTCTGGGCTTCAGTTTCCCAACTGCAAAGAGGAAAATAACACCTGCCGAACCTCACAAGGCTTACAGTTCTTAAAAGGGTTCTGTAAACCATGGAGGGTTTTGAAGAAGTGGGTCATGGATAAGATTCCCACCTACTGGGCTCCAACCTGTGATGAAGCTGAAGAGGGACTGGATGTGGGCCCGATCCTTGAAGTAGGAGCGGCTGAGGCTGTTCCATATGACATCGGAGACCTTCTTCACCAGCTCACGGCTGGAGACACCCCCTTCTCGAGGATAGAGGGACAGGTCGACGGCGCCTCGGATCTGGGCGGTGAAGCGGGCATAGAGGGCGGCGATGATAGACAGGTCGGCCACGGGAAAGTAGGTGAGGCCGCCAGGCGGGTCGGGGCGGGGCTGGGCTGGAAGGTGAGCTCGGGAACGTTGGTAGGGATGACGCGGTTGACAGCCAGAAAATGCTCCACGAAGCCCAGCACCAAGGAAAGGAGCACCAGGTCCGGCTCCTCTCGGCCCAGCTCGGCAGCAAACAGGCGCACCACGTCGTCGATGGAGCGCAGCGGGAACAGCGTCTTCTGGGCGGCCTTCAGCCCCATGGCGGCGGGCGGTGGGCGGCGGCCTGCAAGGCAAGCCGGGGGAGGGAGGGTCGGGCAGGTTCGGCCGGGGAGCCTCCTCCCAGGGTCCGCTAAGGTTCCACCCGCCCCGACACACGCACAGCTCCCCTGCTTCCCCACCCTCTTCAGCCTCTGCTCACCGGCTTCCCCTCTTTTGTCGGTGAGACCCCTCAGCCGAGACTGCAGAGCCTTTTTGTCCCCCACAATTCCGGGACGCCCGGTACCCGATGGGGTGCGCCCCAAGCACCCCAATGAGGAGCCCCAATGGCCGCCCCGCCCCCTCTCTACGACTGTGCCCCCGGGGCTGTAAAGTCTGTCCAGAAAGCGCACCCAGGTCAAGCCCCCAAACCCCAAGGAGAGTCCTGGCCTCGGTCCCCCTCGCCCACCTCCGCGCTTACATCCCACACTAGGCACCGCGGCGCACGCCGCCCGGAGCCTGCTGGGACATGAAGTCCCGCCCCTAGGGTCGCACTACCCGCCGGGAAGTGGAGTCTGGGCCCACCCCTGCCCCGCTGAGCCTGGAAATAGTGGCGGGCCGGGCCGCTGCGCTGTGGCTTCTGGGATCTCTAGGTCCGCGGCTCCGGACACCTCCTTCCCGAGATACTCAGGGATTGGCCCTTCCCTTCAGGCCGACCAGGCAGGAAGCGTGCCCGCAGTGCCTTCTGGAAAATGTAGTCCGGGGGCACTACCTGCAGACTCGGGGTGGGAGGTCGCCGAGCTTCTGCCGGTTTTGCTGTCACGGGTCGGTCGGCAAGTTATGAGGAAAAAGATCAGGTTGCTTGATCCAGAAAAAATTAAAATAAAACAATATGAGAAAAACAGATACTTTTAAACACTGCCAGAGAGTAAATGTGTTCAGCCGCTTTAGCTGGGTATCAGTGTCTGTTAACATATAAAGATGCCTACTCTGTGTGCAGCACTCGTTTCCCACTTCCGCCCGCGAGATACTCTAACACGTGCTAAGAGTAGCTTTTGTTTGTTTGTTTTGAGACACGGTCTTTCTCTTTCGCCCAGGCTGGAATGCAGTGGCTCGATCTGGGCTCACTGCAGCCTCGACTTCACGGGCTCAAGCGATTCTCGTGCCTCAGCCTCCCGAGTAGCTGTGATCACAGGCGTGCGCCACCACTCCCGCCTAATTTTGTGTGTATGTGCATATACATAAATATATATACATATAACACACACACACACACACACACACACACATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGCAGAGACAGGGATTCCCAGCTACTTGGGAGGCTGAGGCGCGGGGAATCCCTTGAACCTGGGAGGCGGAGGCTTCAGTGAGCCAGAATCTTGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGATTCCGTCTTAAAAAAAAGTCCCAAGTAGCTGGGATTATAGGCGTCCGCCACCACACCCAGAAAACTTTTTGTATTTTAAGTAGAGATGGGGTTTCACCATGTTGGCCAGACTGGTCTCGAACCCCTAACCTCAAGTGATCTGCCCGCCTCAGCCTCCCAAAGTGCTAAAATTACAGGCGTGAACCACCTTACCCGGCCAAAGAGTAGTTATTTGTTTATTTGTTTTGAGACAGAGTCTCGCTCTGTCACTCAGGCTGGAGTGCAGTGGGGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTTCTGCCTCAGCTTCCCAAGTAGCCGGGATTACAGGTGCCTGCCACCACACTTGGCTAATTTTTGTATTTTACTTAGTAGAGACAGGGGTGTCACCATGTTGGTCAGGCTGGTCTCGAACN | pathogenic | 178,082 |
Gene MEN1 (menin 1) variant at chromosome 11, position 64809903—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Multiple_endocrine_neoplasia,_type_1'] | TATGAAGGGGACAAGGCTGGGGGGAGGGAACAATACCCGCTCAGCCACACCGGCATTGACTGTCTGGCCCCTGCGGTCCTCGTTGCCCTTGCCGTGCCAGGTGACCTCAGCTGTCTGCTCCCCATTGGGCCCAAACACTACCCAGGCATGATCCTCAGACAGGGCGAGGTGGACATCCCGGAGACCCAGGGCCTGGCAGGCCCCAACCACAGCAAAGGCCACACCGGAGCTGTCCAATTTGGTGCCTGTGGAAGGGGGAGGTAATGAAAGAGGGTCCTCTGTGCTTTAACATGGGGAAAGGGGGCCAGGTAGTGATGGGCCACACTCCCTCCCACTCCCTTTCCAAGCCTGTGACCCAACCTCAGATTCTCCTGCCCACTATCCCTCCATCCCTTCCCTCCCACGTGTTCAAAGACTCTCTCCCTGTTTACACCCTCTATGTCCAACAAGATACCTTTCTGGATATCCTGTAGCTGACCCAGCCTTTGGCCCTACCTCGTCTTTCTCTGCAACTCTATTATATATTCTATGGATTTAGGGATTCCATTTTACTGCACTTACTAGGTTAAAACAGGAATGGCAAAAACAGGACGCTGGCCAACACTCTCTGGCTATACACCCACCAACAAATAACCCTCATTTATCTCTGCACTCTTTTCCTGCTAAGCTGAGAAGCAGCCTCTGATTCCTTCTCAATATGGCACACCAGGATGGGATTGCCAGTCAACCGGGCTTGGTGCAAAGCTCTTTGCAAGCCCTGACTCTTAAGCCTTTTGAGGTCAAGCCCCTTCTCTGTCTCAAACATTTTTGACCAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCTCGTCTCTACTAAAAATCCAAAAAAAAATTAGCCAGGCATGGTGGCAGGCTCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGGCAGGAGAATGGCATGAAAGCAGGAGGCAGAGCTTGCAGTGAGCCGAGATTGCACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACGCCGTCTGAAAAAAAAAAAAAAATTTTCATAGGCCACCAGTTGCGGTGGCTCACACCTGTAATCCCAGCATTTGGGAGACTGAGGCGGGCAGATCACTTGAGCCCAAGAGTTCAAGACCAGTCTGGGCCACATAGTGAGACACCATCTCTACAAAAAAAATACAAAAAATTAACCAGCACCACGGTGCATGCCTGTACTCTCAGCTACTCAGGAGGCTGAGGTTGGAGGATCTCTGAGCCCAGGGAGACTGAGGCTGCAGTGAGCCATGATCACACCACTGCACTCCAGCCTGGGGGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAATCTTCATAGCCATTATTTTGTTTAACTGCCTCAAATGCAGCCCAATTTCATCTTCTTGCCCCCTAAATCTGCTGCCGCCCTCTGTGTCTCATGCTTAGAACTCCTGTAGCTGTTCAGTGGCAAGGGTGGGGGTGCTGAGGGGGCAGAGGTGAGGTTGATGATTTGGAGCCAAGTGATCAGGCTTCACTTCCAGCCCTGCCATGCCGTGTGTGACTTTGGCATATCATTTCCCCTCTCTGGGCTTCAGTTTCCCAACTGCAAAGAGGAAAATAACACCTGCCGAACCTCACAAGGCTTACAGTTCTTAAAAGGGTTCTGTAAACCATGGAGGGTTTTGAAGAAGTGGGTCATGGATAAGATTCCCACCTACTGGGCTCCAACCTGTGATGAAGCTGAAGAGGGACTGGATGTGGGCCCGATCCTTGAAGTAGGAGCGGCTGAGGCTGTTCCATATGACATCGGAGACCTTCTTCACCAGCTCACGGCTGGAGACACCCCCTTCTCGAGGATAGAGGGACAGGTCGACGGCGCCTCGGATCTGGGCGGTGAAGCGGGCATAGAGGGCGGCGATGATAGACAGGTCGGCCACGGGAAAGTAGGTGAGGCCGCCAGGCGGGTCGGGGGCGGGGCTGGGCTGGAAGGTGAGCTCGGGAACGTTGGTAGGGATGACGCGGTTGACAGCCAGAAAATGCTCCACGAAGCCCAGCACCAAGGAAAGGAGCACCAGGTCCGGCTCCTCTCGGCCCAGCTCGGCAGCAAACAGGCGCACCACGTCGTCGATGGAGCGCAGCGGGAACAGCGTCTTCTGGGCGGCCTTCAGCCCCATGGCGGCGGGCGGTGGGCGGCGGCCTGCAAGGCAAGCCGGGGGAGGGAGGGTCGGGCAGGTTCGGCCGGGGAGCCTCCTCCCAGGGTCCGCTAAGGTTCCACCCGCCCCGACACACGCACAGCTCCCCTGCTTCCCCACCCTCTTCAGCCTCTGCTCACCGGCTTCCCCTCTTTTGTCGGTGAGACCCCTCAGCCGAGACTGCAGAGCCTTTTTGTCCCCCACAATTCCGGGACGCCCGGTACCCGATGGGGTGCGCCCCAAGCACCCCAATGAGGAGCCCCAATGGCCGCCCCGCCCCCTCTCTACGACTGTGCCCCCGGGGCTGTAAAGTCTGTCCAGAAAGCGCACCCAGGTCAAGCCCCCAAACCCCAAGGAGAGTCCTGGCCTCGGTCCCCCTCGCCCACCTCCGCGCTTACATCCCACACTAGGCACCGCGGCGCACGCCGCCCGGAGCCTGCTGGGACATGAAGTCCCGCCCCTAGGGTCGCACTACCCGCCGGGAAGTGGAGTCTGGGCCCACCCCTGCCCCGCTGAGCCTGGAAATAGTGGCGGGCCGGGCCGCTGCGCTGTGGCTTCTGGGATCTCTAGGTCCGCGGCTCCGGACACCTCCTTCCCGAGATACTCAGGGATTGGCCCTTCCCTTCAGGCCGACCAGGCAGGAAGCGTGCCCGCAGTGCCTTCTGGAAAATGTAGTCCGGGGGCACTACCTGCAGACTCGGGGTGGGAGGTCGCCGAGCTTCTGCCGGTTTTGCTGTCACGGGTCGGTCGGCAAGTTATGAGGAAAAAGATCAGGTTGCTTGATCCAGAAAAAATTAAAATAAAACAATATGAGAAAAACAGATACTTTTAAACACTGCCAGAGAGTAAATGTGTTCAGCCGCTTTAGCTGGGTATCAGTGTCTGTTAACATATAAAGATGCCTACTCTGTGTGCAGCACTCGTTTCCCACTTCCGCCCGCGAGATACTCTAACACGTGCTAAGAGTAGCTTTTGTTTGTTTGTTTTGAGACACGGTCTTTCTCTTTCGCCCAGGCTGGAATGCAGTGGCTCGATCTGGGCTCACTGCAGCCTCGACTTCACGGGCTCAAGCGATTCTCGTGCCTCAGCCTCCCGAGTAGCTGTGATCACAGGCGTGCGCCACCACTCCCGCCTAATTTTGTGTGTATGTGCATATACATAAATATATATACATATAACACACACACACACACACACACACACACATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGCAGAGACAGGGATTCCCAGCTACTTGGGAGGCTGAGGCGCGGGGAATCCCTTGAACCTGGGAGGCGGAGGCTTCAGTGAGCCAGAATCTTGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGATTCCGTCTTAAAAAAAAGTCCCAAGTAGCTGGGATTATAGGCGTCCGCCACCACACCCAGAAAACTTTTTGTATTTTAAGTAGAGATGGGGTTTCACCATGTTGGCCAGACTGGTCTCGAACCCCTAACCTCAAGTGATCTGCCCGCCTCAGCCTCCCAAAGTGCTAAAATTACAGGCGTGAACCACCTTACCCGGCCAAAGAGTAGTTATTTGTTTATTTGTTTTGAGACAGAGTCTCGCTCTGTCACTCAGGCTGGAGTGCAGTGGGGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTTCTGCCTCAGCTTCCCAAGTAGCCGGGATTACAGGTGCCTGCCACCACACTTGGCTAATTTTTGTATTTTACTTAGTAGAGACAGGGGTGTCACCATGTTGGTCAGGCTGGTCTCGAACT | TATGAAGGGGACAAGGCTGGGGGGAGGGAACAATACCCGCTCAGCCACACCGGCATTGACTGTCTGGCCCCTGCGGTCCTCGTTGCCCTTGCCGTGCCAGGTGACCTCAGCTGTCTGCTCCCCATTGGGCCCAAACACTACCCAGGCATGATCCTCAGACAGGGCGAGGTGGACATCCCGGAGACCCAGGGCCTGGCAGGCCCCAACCACAGCAAAGGCCACACCGGAGCTGTCCAATTTGGTGCCTGTGGAAGGGGGAGGTAATGAAAGAGGGTCCTCTGTGCTTTAACATGGGGAAAGGGGGCCAGGTAGTGATGGGCCACACTCCCTCCCACTCCCTTTCCAAGCCTGTGACCCAACCTCAGATTCTCCTGCCCACTATCCCTCCATCCCTTCCCTCCCACGTGTTCAAAGACTCTCTCCCTGTTTACACCCTCTATGTCCAACAAGATACCTTTCTGGATATCCTGTAGCTGACCCAGCCTTTGGCCCTACCTCGTCTTTCTCTGCAACTCTATTATATATTCTATGGATTTAGGGATTCCATTTTACTGCACTTACTAGGTTAAAACAGGAATGGCAAAAACAGGACGCTGGCCAACACTCTCTGGCTATACACCCACCAACAAATAACCCTCATTTATCTCTGCACTCTTTTCCTGCTAAGCTGAGAAGCAGCCTCTGATTCCTTCTCAATATGGCACACCAGGATGGGATTGCCAGTCAACCGGGCTTGGTGCAAAGCTCTTTGCAAGCCCTGACTCTTAAGCCTTTTGAGGTCAAGCCCCTTCTCTGTCTCAAACATTTTTGACCAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCTCGTCTCTACTAAAAATCCAAAAAAAAATTAGCCAGGCATGGTGGCAGGCTCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGGCAGGAGAATGGCATGAAAGCAGGAGGCAGAGCTTGCAGTGAGCCGAGATTGCACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACGCCGTCTGAAAAAAAAAAAAAAATTTTCATAGGCCACCAGTTGCGGTGGCTCACACCTGTAATCCCAGCATTTGGGAGACTGAGGCGGGCAGATCACTTGAGCCCAAGAGTTCAAGACCAGTCTGGGCCACATAGTGAGACACCATCTCTACAAAAAAAATACAAAAAATTAACCAGCACCACGGTGCATGCCTGTACTCTCAGCTACTCAGGAGGCTGAGGTTGGAGGATCTCTGAGCCCAGGGAGACTGAGGCTGCAGTGAGCCATGATCACACCACTGCACTCCAGCCTGGGGGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAATCTTCATAGCCATTATTTTGTTTAACTGCCTCAAATGCAGCCCAATTTCATCTTCTTGCCCCCTAAATCTGCTGCCGCCCTCTGTGTCTCATGCTTAGAACTCCTGTAGCTGTTCAGTGGCAAGGGTGGGGGTGCTGAGGGGGCAGAGGTGAGGTTGATGATTTGGAGCCAAGTGATCAGGCTTCACTTCCAGCCCTGCCATGCCGTGTGTGACTTTGGCATATCATTTCCCCTCTCTGGGCTTCAGTTTCCCAACTGCAAAGAGGAAAATAACACCTGCCGAACCTCACAAGGCTTACAGTTCTTAAAAGGGTTCTGTAAACCATGGAGGGTTTTGAAGAAGTGGGTCATGGATAAGATTCCCACCTACTGGGCTCCAACCTGTGATGAAGCTGAAGAGGGACTGGATGTGGGCCCGATCCTTGAAGTAGGAGCGGCTGAGGCTGTTCCATATGACATCGGAGACCTTCTTCACCAGCTCACGGCTGGAGACACCCCCTTCTCGAGGATAGAGGGACAGGTCGACGGCGCCTCGGATCTGGGCGGTGAAGCGGGCATAGAGGGCGGCGATGATAGACAGGTCGGCCACGGGAAAGTAGGTGAGGCCGCCAGGCGGGTCGGGGGCGGGGCGGGGCTGGGCTGGAAGGTGAGCTCGGGAACGTTGGTAGGGATGACGCGGTTGACAGCCAGAAAATGCTCCACGAAGCCCAGCACCAAGGAAAGGAGCACCAGGTCCGGCTCCTCTCGGCCCAGCTCGGCAGCAAACAGGCGCACCACGTCGTCGATGGAGCGCAGCGGGAACAGCGTCTTCTGGGCGGCCTTCAGCCCCATGGCGGCGGGCGGTGGGCGGCGGCCTGCAAGGCAAGCCGGGGGAGGGAGGGTCGGGCAGGTTCGGCCGGGGAGCCTCCTCCCAGGGTCCGCTAAGGTTCCACCCGCCCCGACACACGCACAGCTCCCCTGCTTCCCCACCCTCTTCAGCCTCTGCTCACCGGCTTCCCCTCTTTTGTCGGTGAGACCCCTCAGCCGAGACTGCAGAGCCTTTTTGTCCCCCACAATTCCGGGACGCCCGGTACCCGATGGGGTGCGCCCCAAGCACCCCAATGAGGAGCCCCAATGGCCGCCCCGCCCCCTCTCTACGACTGTGCCCCCGGGGCTGTAAAGTCTGTCCAGAAAGCGCACCCAGGTCAAGCCCCCAAACCCCAAGGAGAGTCCTGGCCTCGGTCCCCCTCGCCCACCTCCGCGCTTACATCCCACACTAGGCACCGCGGCGCACGCCGCCCGGAGCCTGCTGGGACATGAAGTCCCGCCCCTAGGGTCGCACTACCCGCCGGGAAGTGGAGTCTGGGCCCACCCCTGCCCCGCTGAGCCTGGAAATAGTGGCGGGCCGGGCCGCTGCGCTGTGGCTTCTGGGATCTCTAGGTCCGCGGCTCCGGACACCTCCTTCCCGAGATACTCAGGGATTGGCCCTTCCCTTCAGGCCGACCAGGCAGGAAGCGTGCCCGCAGTGCCTTCTGGAAAATGTAGTCCGGGGGCACTACCTGCAGACTCGGGGTGGGAGGTCGCCGAGCTTCTGCCGGTTTTGCTGTCACGGGTCGGTCGGCAAGTTATGAGGAAAAAGATCAGGTTGCTTGATCCAGAAAAAATTAAAATAAAACAATATGAGAAAAACAGATACTTTTAAACACTGCCAGAGAGTAAATGTGTTCAGCCGCTTTAGCTGGGTATCAGTGTCTGTTAACATATAAAGATGCCTACTCTGTGTGCAGCACTCGTTTCCCACTTCCGCCCGCGAGATACTCTAACACGTGCTAAGAGTAGCTTTTGTTTGTTTGTTTTGAGACACGGTCTTTCTCTTTCGCCCAGGCTGGAATGCAGTGGCTCGATCTGGGCTCACTGCAGCCTCGACTTCACGGGCTCAAGCGATTCTCGTGCCTCAGCCTCCCGAGTAGCTGTGATCACAGGCGTGCGCCACCACTCCCGCCTAATTTTGTGTGTATGTGCATATACATAAATATATATACATATAACACACACACACACACACACACACACACATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGCAGAGACAGGGATTCCCAGCTACTTGGGAGGCTGAGGCGCGGGGAATCCCTTGAACCTGGGAGGCGGAGGCTTCAGTGAGCCAGAATCTTGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGATTCCGTCTTAAAAAAAAGTCCCAAGTAGCTGGGATTATAGGCGTCCGCCACCACACCCAGAAAACTTTTTGTATTTTAAGTAGAGATGGGGTTTCACCATGTTGGCCAGACTGGTCTCGAACCCCTAACCTCAAGTGATCTGCCCGCCTCAGCCTCCCAAAGTGCTAAAATTACAGGCGTGAACCACCTTACCCGGCCAAAGAGTAGTTATTTGTTTATTTGTTTTGAGACAGAGTCTCGCTCTGTCACTCAGGCTGGAGTGCAGTGGGGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTTCTGCCTCAGCTTCCCAAGTAGCCGGGATTACAGGTGCCTGCCACCACACTTGGCTAATTTTTGTATTTTACTTAGTAGAGACAGGGGTGTCACCATGTTGGTCAGGCTGGTCTC | pathogenic | 178,083 |
Variant at chromosome 11, position 64809909, gene MEN1 (menin 1): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Multiple_endocrine_neoplasia,_type_1'] | GGGGACAAGGCTGGGGGGAGGGAACAATACCCGCTCAGCCACACCGGCATTGACTGTCTGGCCCCTGCGGTCCTCGTTGCCCTTGCCGTGCCAGGTGACCTCAGCTGTCTGCTCCCCATTGGGCCCAAACACTACCCAGGCATGATCCTCAGACAGGGCGAGGTGGACATCCCGGAGACCCAGGGCCTGGCAGGCCCCAACCACAGCAAAGGCCACACCGGAGCTGTCCAATTTGGTGCCTGTGGAAGGGGGAGGTAATGAAAGAGGGTCCTCTGTGCTTTAACATGGGGAAAGGGGGCCAGGTAGTGATGGGCCACACTCCCTCCCACTCCCTTTCCAAGCCTGTGACCCAACCTCAGATTCTCCTGCCCACTATCCCTCCATCCCTTCCCTCCCACGTGTTCAAAGACTCTCTCCCTGTTTACACCCTCTATGTCCAACAAGATACCTTTCTGGATATCCTGTAGCTGACCCAGCCTTTGGCCCTACCTCGTCTTTCTCTGCAACTCTATTATATATTCTATGGATTTAGGGATTCCATTTTACTGCACTTACTAGGTTAAAACAGGAATGGCAAAAACAGGACGCTGGCCAACACTCTCTGGCTATACACCCACCAACAAATAACCCTCATTTATCTCTGCACTCTTTTCCTGCTAAGCTGAGAAGCAGCCTCTGATTCCTTCTCAATATGGCACACCAGGATGGGATTGCCAGTCAACCGGGCTTGGTGCAAAGCTCTTTGCAAGCCCTGACTCTTAAGCCTTTTGAGGTCAAGCCCCTTCTCTGTCTCAAACATTTTTGACCAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCTCGTCTCTACTAAAAATCCAAAAAAAAATTAGCCAGGCATGGTGGCAGGCTCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGGCAGGAGAATGGCATGAAAGCAGGAGGCAGAGCTTGCAGTGAGCCGAGATTGCACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACGCCGTCTGAAAAAAAAAAAAAAATTTTCATAGGCCACCAGTTGCGGTGGCTCACACCTGTAATCCCAGCATTTGGGAGACTGAGGCGGGCAGATCACTTGAGCCCAAGAGTTCAAGACCAGTCTGGGCCACATAGTGAGACACCATCTCTACAAAAAAAATACAAAAAATTAACCAGCACCACGGTGCATGCCTGTACTCTCAGCTACTCAGGAGGCTGAGGTTGGAGGATCTCTGAGCCCAGGGAGACTGAGGCTGCAGTGAGCCATGATCACACCACTGCACTCCAGCCTGGGGGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAATCTTCATAGCCATTATTTTGTTTAACTGCCTCAAATGCAGCCCAATTTCATCTTCTTGCCCCCTAAATCTGCTGCCGCCCTCTGTGTCTCATGCTTAGAACTCCTGTAGCTGTTCAGTGGCAAGGGTGGGGGTGCTGAGGGGGCAGAGGTGAGGTTGATGATTTGGAGCCAAGTGATCAGGCTTCACTTCCAGCCCTGCCATGCCGTGTGTGACTTTGGCATATCATTTCCCCTCTCTGGGCTTCAGTTTCCCAACTGCAAAGAGGAAAATAACACCTGCCGAACCTCACAAGGCTTACAGTTCTTAAAAGGGTTCTGTAAACCATGGAGGGTTTTGAAGAAGTGGGTCATGGATAAGATTCCCACCTACTGGGCTCCAACCTGTGATGAAGCTGAAGAGGGACTGGATGTGGGCCCGATCCTTGAAGTAGGAGCGGCTGAGGCTGTTCCATATGACATCGGAGACCTTCTTCACCAGCTCACGGCTGGAGACACCCCCTTCTCGAGGATAGAGGGACAGGTCGACGGCGCCTCGGATCTGGGCGGTGAAGCGGGCATAGAGGGCGGCGATGATAGACAGGTCGGCCACGGGAAAGTAGGTGAGGCCGCCAGGCGGGTCGGGGGCGGGGCTGGGCTGGAAGGTGAGCTCGGGAACGTTGGTAGGGATGACGCGGTTGACAGCCAGAAAATGCTCCACGAAGCCCAGCACCAAGGAAAGGAGCACCAGGTCCGGCTCCTCTCGGCCCAGCTCGGCAGCAAACAGGCGCACCACGTCGTCGATGGAGCGCAGCGGGAACAGCGTCTTCTGGGCGGCCTTCAGCCCCATGGCGGCGGGCGGTGGGCGGCGGCCTGCAAGGCAAGCCGGGGGAGGGAGGGTCGGGCAGGTTCGGCCGGGGAGCCTCCTCCCAGGGTCCGCTAAGGTTCCACCCGCCCCGACACACGCACAGCTCCCCTGCTTCCCCACCCTCTTCAGCCTCTGCTCACCGGCTTCCCCTCTTTTGTCGGTGAGACCCCTCAGCCGAGACTGCAGAGCCTTTTTGTCCCCCACAATTCCGGGACGCCCGGTACCCGATGGGGTGCGCCCCAAGCACCCCAATGAGGAGCCCCAATGGCCGCCCCGCCCCCTCTCTACGACTGTGCCCCCGGGGCTGTAAAGTCTGTCCAGAAAGCGCACCCAGGTCAAGCCCCCAAACCCCAAGGAGAGTCCTGGCCTCGGTCCCCCTCGCCCACCTCCGCGCTTACATCCCACACTAGGCACCGCGGCGCACGCCGCCCGGAGCCTGCTGGGACATGAAGTCCCGCCCCTAGGGTCGCACTACCCGCCGGGAAGTGGAGTCTGGGCCCACCCCTGCCCCGCTGAGCCTGGAAATAGTGGCGGGCCGGGCCGCTGCGCTGTGGCTTCTGGGATCTCTAGGTCCGCGGCTCCGGACACCTCCTTCCCGAGATACTCAGGGATTGGCCCTTCCCTTCAGGCCGACCAGGCAGGAAGCGTGCCCGCAGTGCCTTCTGGAAAATGTAGTCCGGGGGCACTACCTGCAGACTCGGGGTGGGAGGTCGCCGAGCTTCTGCCGGTTTTGCTGTCACGGGTCGGTCGGCAAGTTATGAGGAAAAAGATCAGGTTGCTTGATCCAGAAAAAATTAAAATAAAACAATATGAGAAAAACAGATACTTTTAAACACTGCCAGAGAGTAAATGTGTTCAGCCGCTTTAGCTGGGTATCAGTGTCTGTTAACATATAAAGATGCCTACTCTGTGTGCAGCACTCGTTTCCCACTTCCGCCCGCGAGATACTCTAACACGTGCTAAGAGTAGCTTTTGTTTGTTTGTTTTGAGACACGGTCTTTCTCTTTCGCCCAGGCTGGAATGCAGTGGCTCGATCTGGGCTCACTGCAGCCTCGACTTCACGGGCTCAAGCGATTCTCGTGCCTCAGCCTCCCGAGTAGCTGTGATCACAGGCGTGCGCCACCACTCCCGCCTAATTTTGTGTGTATGTGCATATACATAAATATATATACATATAACACACACACACACACACACACACACACATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGCAGAGACAGGGATTCCCAGCTACTTGGGAGGCTGAGGCGCGGGGAATCCCTTGAACCTGGGAGGCGGAGGCTTCAGTGAGCCAGAATCTTGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGATTCCGTCTTAAAAAAAAGTCCCAAGTAGCTGGGATTATAGGCGTCCGCCACCACACCCAGAAAACTTTTTGTATTTTAAGTAGAGATGGGGTTTCACCATGTTGGCCAGACTGGTCTCGAACCCCTAACCTCAAGTGATCTGCCCGCCTCAGCCTCCCAAAGTGCTAAAATTACAGGCGTGAACCACCTTACCCGGCCAAAGAGTAGTTATTTGTTTATTTGTTTTGAGACAGAGTCTCGCTCTGTCACTCAGGCTGGAGTGCAGTGGGGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTTCTGCCTCAGCTTCCCAAGTAGCCGGGATTACAGGTGCCTGCCACCACACTTGGCTAATTTTTGTATTTTACTTAGTAGAGACAGGGGTGTCACCATGTTGGTCAGGCTGGTCTCGAACTCCTGAC | GGGGACAAGGCTGGGGGGAGGGAACAATACCCGCTCAGCCACACCGGCATTGACTGTCTGGCCCCTGCGGTCCTCGTTGCCCTTGCCGTGCCAGGTGACCTCAGCTGTCTGCTCCCCATTGGGCCCAAACACTACCCAGGCATGATCCTCAGACAGGGCGAGGTGGACATCCCGGAGACCCAGGGCCTGGCAGGCCCCAACCACAGCAAAGGCCACACCGGAGCTGTCCAATTTGGTGCCTGTGGAAGGGGGAGGTAATGAAAGAGGGTCCTCTGTGCTTTAACATGGGGAAAGGGGGCCAGGTAGTGATGGGCCACACTCCCTCCCACTCCCTTTCCAAGCCTGTGACCCAACCTCAGATTCTCCTGCCCACTATCCCTCCATCCCTTCCCTCCCACGTGTTCAAAGACTCTCTCCCTGTTTACACCCTCTATGTCCAACAAGATACCTTTCTGGATATCCTGTAGCTGACCCAGCCTTTGGCCCTACCTCGTCTTTCTCTGCAACTCTATTATATATTCTATGGATTTAGGGATTCCATTTTACTGCACTTACTAGGTTAAAACAGGAATGGCAAAAACAGGACGCTGGCCAACACTCTCTGGCTATACACCCACCAACAAATAACCCTCATTTATCTCTGCACTCTTTTCCTGCTAAGCTGAGAAGCAGCCTCTGATTCCTTCTCAATATGGCACACCAGGATGGGATTGCCAGTCAACCGGGCTTGGTGCAAAGCTCTTTGCAAGCCCTGACTCTTAAGCCTTTTGAGGTCAAGCCCCTTCTCTGTCTCAAACATTTTTGACCAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCTCGTCTCTACTAAAAATCCAAAAAAAAATTAGCCAGGCATGGTGGCAGGCTCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGGCAGGAGAATGGCATGAAAGCAGGAGGCAGAGCTTGCAGTGAGCCGAGATTGCACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACGCCGTCTGAAAAAAAAAAAAAAATTTTCATAGGCCACCAGTTGCGGTGGCTCACACCTGTAATCCCAGCATTTGGGAGACTGAGGCGGGCAGATCACTTGAGCCCAAGAGTTCAAGACCAGTCTGGGCCACATAGTGAGACACCATCTCTACAAAAAAAATACAAAAAATTAACCAGCACCACGGTGCATGCCTGTACTCTCAGCTACTCAGGAGGCTGAGGTTGGAGGATCTCTGAGCCCAGGGAGACTGAGGCTGCAGTGAGCCATGATCACACCACTGCACTCCAGCCTGGGGGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAATCTTCATAGCCATTATTTTGTTTAACTGCCTCAAATGCAGCCCAATTTCATCTTCTTGCCCCCTAAATCTGCTGCCGCCCTCTGTGTCTCATGCTTAGAACTCCTGTAGCTGTTCAGTGGCAAGGGTGGGGGTGCTGAGGGGGCAGAGGTGAGGTTGATGATTTGGAGCCAAGTGATCAGGCTTCACTTCCAGCCCTGCCATGCCGTGTGTGACTTTGGCATATCATTTCCCCTCTCTGGGCTTCAGTTTCCCAACTGCAAAGAGGAAAATAACACCTGCCGAACCTCACAAGGCTTACAGTTCTTAAAAGGGTTCTGTAAACCATGGAGGGTTTTGAAGAAGTGGGTCATGGATAAGATTCCCACCTACTGGGCTCCAACCTGTGATGAAGCTGAAGAGGGACTGGATGTGGGCCCGATCCTTGAAGTAGGAGCGGCTGAGGCTGTTCCATATGACATCGGAGACCTTCTTCACCAGCTCACGGCTGGAGACACCCCCTTCTCGAGGATAGAGGGACAGGTCGACGGCGCCTCGGATCTGGGCGGTGAAGCGGGCATAGAGGGCGGCGATGATAGACAGGTCGGCCACGGGAAAGTAGGTGAGGCCGCCAGGCGGGTCGGGGGCGGGGCTGGGCTGGGCTGGAAGGTGAGCTCGGGAACGTTGGTAGGGATGACGCGGTTGACAGCCAGAAAATGCTCCACGAAGCCCAGCACCAAGGAAAGGAGCACCAGGTCCGGCTCCTCTCGGCCCAGCTCGGCAGCAAACAGGCGCACCACGTCGTCGATGGAGCGCAGCGGGAACAGCGTCTTCTGGGCGGCCTTCAGCCCCATGGCGGCGGGCGGTGGGCGGCGGCCTGCAAGGCAAGCCGGGGGAGGGAGGGTCGGGCAGGTTCGGCCGGGGAGCCTCCTCCCAGGGTCCGCTAAGGTTCCACCCGCCCCGACACACGCACAGCTCCCCTGCTTCCCCACCCTCTTCAGCCTCTGCTCACCGGCTTCCCCTCTTTTGTCGGTGAGACCCCTCAGCCGAGACTGCAGAGCCTTTTTGTCCCCCACAATTCCGGGACGCCCGGTACCCGATGGGGTGCGCCCCAAGCACCCCAATGAGGAGCCCCAATGGCCGCCCCGCCCCCTCTCTACGACTGTGCCCCCGGGGCTGTAAAGTCTGTCCAGAAAGCGCACCCAGGTCAAGCCCCCAAACCCCAAGGAGAGTCCTGGCCTCGGTCCCCCTCGCCCACCTCCGCGCTTACATCCCACACTAGGCACCGCGGCGCACGCCGCCCGGAGCCTGCTGGGACATGAAGTCCCGCCCCTAGGGTCGCACTACCCGCCGGGAAGTGGAGTCTGGGCCCACCCCTGCCCCGCTGAGCCTGGAAATAGTGGCGGGCCGGGCCGCTGCGCTGTGGCTTCTGGGATCTCTAGGTCCGCGGCTCCGGACACCTCCTTCCCGAGATACTCAGGGATTGGCCCTTCCCTTCAGGCCGACCAGGCAGGAAGCGTGCCCGCAGTGCCTTCTGGAAAATGTAGTCCGGGGGCACTACCTGCAGACTCGGGGTGGGAGGTCGCCGAGCTTCTGCCGGTTTTGCTGTCACGGGTCGGTCGGCAAGTTATGAGGAAAAAGATCAGGTTGCTTGATCCAGAAAAAATTAAAATAAAACAATATGAGAAAAACAGATACTTTTAAACACTGCCAGAGAGTAAATGTGTTCAGCCGCTTTAGCTGGGTATCAGTGTCTGTTAACATATAAAGATGCCTACTCTGTGTGCAGCACTCGTTTCCCACTTCCGCCCGCGAGATACTCTAACACGTGCTAAGAGTAGCTTTTGTTTGTTTGTTTTGAGACACGGTCTTTCTCTTTCGCCCAGGCTGGAATGCAGTGGCTCGATCTGGGCTCACTGCAGCCTCGACTTCACGGGCTCAAGCGATTCTCGTGCCTCAGCCTCCCGAGTAGCTGTGATCACAGGCGTGCGCCACCACTCCCGCCTAATTTTGTGTGTATGTGCATATACATAAATATATATACATATAACACACACACACACACACACACACACACATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGCAGAGACAGGGATTCCCAGCTACTTGGGAGGCTGAGGCGCGGGGAATCCCTTGAACCTGGGAGGCGGAGGCTTCAGTGAGCCAGAATCTTGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGATTCCGTCTTAAAAAAAAGTCCCAAGTAGCTGGGATTATAGGCGTCCGCCACCACACCCAGAAAACTTTTTGTATTTTAAGTAGAGATGGGGTTTCACCATGTTGGCCAGACTGGTCTCGAACCCCTAACCTCAAGTGATCTGCCCGCCTCAGCCTCCCAAAGTGCTAAAATTACAGGCGTGAACCACCTTACCCGGCCAAAGAGTAGTTATTTGTTTATTTGTTTTGAGACAGAGTCTCGCTCTGTCACTCAGGCTGGAGTGCAGTGGGGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTTCTGCCTCAGCTTCCCAAGTAGCCGGGATTACAGGTGCCTGCCACCACACTTGGCTAATTTTTGTATTTTACTTAGTAGAGACAGGGGTGTCACCATGTTGGTCAGGCTGGTCTCGAACTC | pathogenic | 178,086 |
Does the genetic variant at chromosome 11, position 64809941, impacting gene MEN1 (menin 1), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Multiple_endocrine_neoplasia,_type_1'] | GCTCAGCCACACCGGCATTGACTGTCTGGCCCCTGCGGTCCTCGTTGCCCTTGCCGTGCCAGGTGACCTCAGCTGTCTGCTCCCCATTGGGCCCAAACACTACCCAGGCATGATCCTCAGACAGGGCGAGGTGGACATCCCGGAGACCCAGGGCCTGGCAGGCCCCAACCACAGCAAAGGCCACACCGGAGCTGTCCAATTTGGTGCCTGTGGAAGGGGGAGGTAATGAAAGAGGGTCCTCTGTGCTTTAACATGGGGAAAGGGGGCCAGGTAGTGATGGGCCACACTCCCTCCCACTCCCTTTCCAAGCCTGTGACCCAACCTCAGATTCTCCTGCCCACTATCCCTCCATCCCTTCCCTCCCACGTGTTCAAAGACTCTCTCCCTGTTTACACCCTCTATGTCCAACAAGATACCTTTCTGGATATCCTGTAGCTGACCCAGCCTTTGGCCCTACCTCGTCTTTCTCTGCAACTCTATTATATATTCTATGGATTTAGGGATTCCATTTTACTGCACTTACTAGGTTAAAACAGGAATGGCAAAAACAGGACGCTGGCCAACACTCTCTGGCTATACACCCACCAACAAATAACCCTCATTTATCTCTGCACTCTTTTCCTGCTAAGCTGAGAAGCAGCCTCTGATTCCTTCTCAATATGGCACACCAGGATGGGATTGCCAGTCAACCGGGCTTGGTGCAAAGCTCTTTGCAAGCCCTGACTCTTAAGCCTTTTGAGGTCAAGCCCCTTCTCTGTCTCAAACATTTTTGACCAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCTCGTCTCTACTAAAAATCCAAAAAAAAATTAGCCAGGCATGGTGGCAGGCTCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGGCAGGAGAATGGCATGAAAGCAGGAGGCAGAGCTTGCAGTGAGCCGAGATTGCACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACGCCGTCTGAAAAAAAAAAAAAAATTTTCATAGGCCACCAGTTGCGGTGGCTCACACCTGTAATCCCAGCATTTGGGAGACTGAGGCGGGCAGATCACTTGAGCCCAAGAGTTCAAGACCAGTCTGGGCCACATAGTGAGACACCATCTCTACAAAAAAAATACAAAAAATTAACCAGCACCACGGTGCATGCCTGTACTCTCAGCTACTCAGGAGGCTGAGGTTGGAGGATCTCTGAGCCCAGGGAGACTGAGGCTGCAGTGAGCCATGATCACACCACTGCACTCCAGCCTGGGGGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAATCTTCATAGCCATTATTTTGTTTAACTGCCTCAAATGCAGCCCAATTTCATCTTCTTGCCCCCTAAATCTGCTGCCGCCCTCTGTGTCTCATGCTTAGAACTCCTGTAGCTGTTCAGTGGCAAGGGTGGGGGTGCTGAGGGGGCAGAGGTGAGGTTGATGATTTGGAGCCAAGTGATCAGGCTTCACTTCCAGCCCTGCCATGCCGTGTGTGACTTTGGCATATCATTTCCCCTCTCTGGGCTTCAGTTTCCCAACTGCAAAGAGGAAAATAACACCTGCCGAACCTCACAAGGCTTACAGTTCTTAAAAGGGTTCTGTAAACCATGGAGGGTTTTGAAGAAGTGGGTCATGGATAAGATTCCCACCTACTGGGCTCCAACCTGTGATGAAGCTGAAGAGGGACTGGATGTGGGCCCGATCCTTGAAGTAGGAGCGGCTGAGGCTGTTCCATATGACATCGGAGACCTTCTTCACCAGCTCACGGCTGGAGACACCCCCTTCTCGAGGATAGAGGGACAGGTCGACGGCGCCTCGGATCTGGGCGGTGAAGCGGGCATAGAGGGCGGCGATGATAGACAGGTCGGCCACGGGAAAGTAGGTGAGGCCGCCAGGCGGGTCGGGGGCGGGGCTGGGCTGGAAGGTGAGCTCGGGAACGTTGGTAGGGATGACGCGGTTGACAGCCAGAAAATGCTCCACGAAGCCCAGCACCAAGGAAAGGAGCACCAGGTCCGGCTCCTCTCGGCCCAGCTCGGCAGCAAACAGGCGCACCACGTCGTCGATGGAGCGCAGCGGGAACAGCGTCTTCTGGGCGGCCTTCAGCCCCATGGCGGCGGGCGGTGGGCGGCGGCCTGCAAGGCAAGCCGGGGGAGGGAGGGTCGGGCAGGTTCGGCCGGGGAGCCTCCTCCCAGGGTCCGCTAAGGTTCCACCCGCCCCGACACACGCACAGCTCCCCTGCTTCCCCACCCTCTTCAGCCTCTGCTCACCGGCTTCCCCTCTTTTGTCGGTGAGACCCCTCAGCCGAGACTGCAGAGCCTTTTTGTCCCCCACAATTCCGGGACGCCCGGTACCCGATGGGGTGCGCCCCAAGCACCCCAATGAGGAGCCCCAATGGCCGCCCCGCCCCCTCTCTACGACTGTGCCCCCGGGGCTGTAAAGTCTGTCCAGAAAGCGCACCCAGGTCAAGCCCCCAAACCCCAAGGAGAGTCCTGGCCTCGGTCCCCCTCGCCCACCTCCGCGCTTACATCCCACACTAGGCACCGCGGCGCACGCCGCCCGGAGCCTGCTGGGACATGAAGTCCCGCCCCTAGGGTCGCACTACCCGCCGGGAAGTGGAGTCTGGGCCCACCCCTGCCCCGCTGAGCCTGGAAATAGTGGCGGGCCGGGCCGCTGCGCTGTGGCTTCTGGGATCTCTAGGTCCGCGGCTCCGGACACCTCCTTCCCGAGATACTCAGGGATTGGCCCTTCCCTTCAGGCCGACCAGGCAGGAAGCGTGCCCGCAGTGCCTTCTGGAAAATGTAGTCCGGGGGCACTACCTGCAGACTCGGGGTGGGAGGTCGCCGAGCTTCTGCCGGTTTTGCTGTCACGGGTCGGTCGGCAAGTTATGAGGAAAAAGATCAGGTTGCTTGATCCAGAAAAAATTAAAATAAAACAATATGAGAAAAACAGATACTTTTAAACACTGCCAGAGAGTAAATGTGTTCAGCCGCTTTAGCTGGGTATCAGTGTCTGTTAACATATAAAGATGCCTACTCTGTGTGCAGCACTCGTTTCCCACTTCCGCCCGCGAGATACTCTAACACGTGCTAAGAGTAGCTTTTGTTTGTTTGTTTTGAGACACGGTCTTTCTCTTTCGCCCAGGCTGGAATGCAGTGGCTCGATCTGGGCTCACTGCAGCCTCGACTTCACGGGCTCAAGCGATTCTCGTGCCTCAGCCTCCCGAGTAGCTGTGATCACAGGCGTGCGCCACCACTCCCGCCTAATTTTGTGTGTATGTGCATATACATAAATATATATACATATAACACACACACACACACACACACACACACATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGCAGAGACAGGGATTCCCAGCTACTTGGGAGGCTGAGGCGCGGGGAATCCCTTGAACCTGGGAGGCGGAGGCTTCAGTGAGCCAGAATCTTGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGATTCCGTCTTAAAAAAAAGTCCCAAGTAGCTGGGATTATAGGCGTCCGCCACCACACCCAGAAAACTTTTTGTATTTTAAGTAGAGATGGGGTTTCACCATGTTGGCCAGACTGGTCTCGAACCCCTAACCTCAAGTGATCTGCCCGCCTCAGCCTCCCAAAGTGCTAAAATTACAGGCGTGAACCACCTTACCCGGCCAAAGAGTAGTTATTTGTTTATTTGTTTTGAGACAGAGTCTCGCTCTGTCACTCAGGCTGGAGTGCAGTGGGGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTTCTGCCTCAGCTTCCCAAGTAGCCGGGATTACAGGTGCCTGCCACCACACTTGGCTAATTTTTGTATTTTACTTAGTAGAGACAGGGGTGTCACCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCTCCTACCTCGGCCTCCAAAA | GCTCAGCCACACCGGCATTGACTGTCTGGCCCCTGCGGTCCTCGTTGCCCTTGCCGTGCCAGGTGACCTCAGCTGTCTGCTCCCCATTGGGCCCAAACACTACCCAGGCATGATCCTCAGACAGGGCGAGGTGGACATCCCGGAGACCCAGGGCCTGGCAGGCCCCAACCACAGCAAAGGCCACACCGGAGCTGTCCAATTTGGTGCCTGTGGAAGGGGGAGGTAATGAAAGAGGGTCCTCTGTGCTTTAACATGGGGAAAGGGGGCCAGGTAGTGATGGGCCACACTCCCTCCCACTCCCTTTCCAAGCCTGTGACCCAACCTCAGATTCTCCTGCCCACTATCCCTCCATCCCTTCCCTCCCACGTGTTCAAAGACTCTCTCCCTGTTTACACCCTCTATGTCCAACAAGATACCTTTCTGGATATCCTGTAGCTGACCCAGCCTTTGGCCCTACCTCGTCTTTCTCTGCAACTCTATTATATATTCTATGGATTTAGGGATTCCATTTTACTGCACTTACTAGGTTAAAACAGGAATGGCAAAAACAGGACGCTGGCCAACACTCTCTGGCTATACACCCACCAACAAATAACCCTCATTTATCTCTGCACTCTTTTCCTGCTAAGCTGAGAAGCAGCCTCTGATTCCTTCTCAATATGGCACACCAGGATGGGATTGCCAGTCAACCGGGCTTGGTGCAAAGCTCTTTGCAAGCCCTGACTCTTAAGCCTTTTGAGGTCAAGCCCCTTCTCTGTCTCAAACATTTTTGACCAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCTCGTCTCTACTAAAAATCCAAAAAAAAATTAGCCAGGCATGGTGGCAGGCTCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGGCAGGAGAATGGCATGAAAGCAGGAGGCAGAGCTTGCAGTGAGCCGAGATTGCACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACGCCGTCTGAAAAAAAAAAAAAAATTTTCATAGGCCACCAGTTGCGGTGGCTCACACCTGTAATCCCAGCATTTGGGAGACTGAGGCGGGCAGATCACTTGAGCCCAAGAGTTCAAGACCAGTCTGGGCCACATAGTGAGACACCATCTCTACAAAAAAAATACAAAAAATTAACCAGCACCACGGTGCATGCCTGTACTCTCAGCTACTCAGGAGGCTGAGGTTGGAGGATCTCTGAGCCCAGGGAGACTGAGGCTGCAGTGAGCCATGATCACACCACTGCACTCCAGCCTGGGGGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAATCTTCATAGCCATTATTTTGTTTAACTGCCTCAAATGCAGCCCAATTTCATCTTCTTGCCCCCTAAATCTGCTGCCGCCCTCTGTGTCTCATGCTTAGAACTCCTGTAGCTGTTCAGTGGCAAGGGTGGGGGTGCTGAGGGGGCAGAGGTGAGGTTGATGATTTGGAGCCAAGTGATCAGGCTTCACTTCCAGCCCTGCCATGCCGTGTGTGACTTTGGCATATCATTTCCCCTCTCTGGGCTTCAGTTTCCCAACTGCAAAGAGGAAAATAACACCTGCCGAACCTCACAAGGCTTACAGTTCTTAAAAGGGTTCTGTAAACCATGGAGGGTTTTGAAGAAGTGGGTCATGGATAAGATTCCCACCTACTGGGCTCCAACCTGTGATGAAGCTGAAGAGGGACTGGATGTGGGCCCGATCCTTGAAGTAGGAGCGGCTGAGGCTGTTCCATATGACATCGGAGACCTTCTTCACCAGCTCACGGCTGGAGACACCCCCTTCTCGAGGATAGAGGGACAGGTCGACGGCGCCTCGGATCTGGGCGGTGAAGCGGGCATAGAGGGCGGCGATGATAGACAGGTCGGCCACGGGAAAGTAGGTGAGGCCGCCAGGCGGGTCGGGGGCGGGGCTGGGCTGGAAGGTGAGCTCGGGAACGTTGTAGGGATGACGCGGTTGACAGCCAGAAAATGCTCCACGAAGCCCAGCACCAAGGAAAGGAGCACCAGGTCCGGCTCCTCTCGGCCCAGCTCGGCAGCAAACAGGCGCACCACGTCGTCGATGGAGCGCAGCGGGAACAGCGTCTTCTGGGCGGCCTTCAGCCCCATGGCGGCGGGCGGTGGGCGGCGGCCTGCAAGGCAAGCCGGGGGAGGGAGGGTCGGGCAGGTTCGGCCGGGGAGCCTCCTCCCAGGGTCCGCTAAGGTTCCACCCGCCCCGACACACGCACAGCTCCCCTGCTTCCCCACCCTCTTCAGCCTCTGCTCACCGGCTTCCCCTCTTTTGTCGGTGAGACCCCTCAGCCGAGACTGCAGAGCCTTTTTGTCCCCCACAATTCCGGGACGCCCGGTACCCGATGGGGTGCGCCCCAAGCACCCCAATGAGGAGCCCCAATGGCCGCCCCGCCCCCTCTCTACGACTGTGCCCCCGGGGCTGTAAAGTCTGTCCAGAAAGCGCACCCAGGTCAAGCCCCCAAACCCCAAGGAGAGTCCTGGCCTCGGTCCCCCTCGCCCACCTCCGCGCTTACATCCCACACTAGGCACCGCGGCGCACGCCGCCCGGAGCCTGCTGGGACATGAAGTCCCGCCCCTAGGGTCGCACTACCCGCCGGGAAGTGGAGTCTGGGCCCACCCCTGCCCCGCTGAGCCTGGAAATAGTGGCGGGCCGGGCCGCTGCGCTGTGGCTTCTGGGATCTCTAGGTCCGCGGCTCCGGACACCTCCTTCCCGAGATACTCAGGGATTGGCCCTTCCCTTCAGGCCGACCAGGCAGGAAGCGTGCCCGCAGTGCCTTCTGGAAAATGTAGTCCGGGGGCACTACCTGCAGACTCGGGGTGGGAGGTCGCCGAGCTTCTGCCGGTTTTGCTGTCACGGGTCGGTCGGCAAGTTATGAGGAAAAAGATCAGGTTGCTTGATCCAGAAAAAATTAAAATAAAACAATATGAGAAAAACAGATACTTTTAAACACTGCCAGAGAGTAAATGTGTTCAGCCGCTTTAGCTGGGTATCAGTGTCTGTTAACATATAAAGATGCCTACTCTGTGTGCAGCACTCGTTTCCCACTTCCGCCCGCGAGATACTCTAACACGTGCTAAGAGTAGCTTTTGTTTGTTTGTTTTGAGACACGGTCTTTCTCTTTCGCCCAGGCTGGAATGCAGTGGCTCGATCTGGGCTCACTGCAGCCTCGACTTCACGGGCTCAAGCGATTCTCGTGCCTCAGCCTCCCGAGTAGCTGTGATCACAGGCGTGCGCCACCACTCCCGCCTAATTTTGTGTGTATGTGCATATACATAAATATATATACATATAACACACACACACACACACACACACACACATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGCAGAGACAGGGATTCCCAGCTACTTGGGAGGCTGAGGCGCGGGGAATCCCTTGAACCTGGGAGGCGGAGGCTTCAGTGAGCCAGAATCTTGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGATTCCGTCTTAAAAAAAAGTCCCAAGTAGCTGGGATTATAGGCGTCCGCCACCACACCCAGAAAACTTTTTGTATTTTAAGTAGAGATGGGGTTTCACCATGTTGGCCAGACTGGTCTCGAACCCCTAACCTCAAGTGATCTGCCCGCCTCAGCCTCCCAAAGTGCTAAAATTACAGGCGTGAACCACCTTACCCGGCCAAAGAGTAGTTATTTGTTTATTTGTTTTGAGACAGAGTCTCGCTCTGTCACTCAGGCTGGAGTGCAGTGGGGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTTCTGCCTCAGCTTCCCAAGTAGCCGGGATTACAGGTGCCTGCCACCACACTTGGCTAATTTTTGTATTTTACTTAGTAGAGACAGGGGTGTCACCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCTCCTACCTCGGCCTCCAAAAN | pathogenic | 178,094 |
Variant at chromosome position 64809987, chromosome 11, gene MEN1 (menin 1): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Multiple_endocrine_neoplasia,_type_1'] | GCCCTTGCCGTGCCAGGTGACCTCAGCTGTCTGCTCCCCATTGGGCCCAAACACTACCCAGGCATGATCCTCAGACAGGGCGAGGTGGACATCCCGGAGACCCAGGGCCTGGCAGGCCCCAACCACAGCAAAGGCCACACCGGAGCTGTCCAATTTGGTGCCTGTGGAAGGGGGAGGTAATGAAAGAGGGTCCTCTGTGCTTTAACATGGGGAAAGGGGGCCAGGTAGTGATGGGCCACACTCCCTCCCACTCCCTTTCCAAGCCTGTGACCCAACCTCAGATTCTCCTGCCCACTATCCCTCCATCCCTTCCCTCCCACGTGTTCAAAGACTCTCTCCCTGTTTACACCCTCTATGTCCAACAAGATACCTTTCTGGATATCCTGTAGCTGACCCAGCCTTTGGCCCTACCTCGTCTTTCTCTGCAACTCTATTATATATTCTATGGATTTAGGGATTCCATTTTACTGCACTTACTAGGTTAAAACAGGAATGGCAAAAACAGGACGCTGGCCAACACTCTCTGGCTATACACCCACCAACAAATAACCCTCATTTATCTCTGCACTCTTTTCCTGCTAAGCTGAGAAGCAGCCTCTGATTCCTTCTCAATATGGCACACCAGGATGGGATTGCCAGTCAACCGGGCTTGGTGCAAAGCTCTTTGCAAGCCCTGACTCTTAAGCCTTTTGAGGTCAAGCCCCTTCTCTGTCTCAAACATTTTTGACCAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCTCGTCTCTACTAAAAATCCAAAAAAAAATTAGCCAGGCATGGTGGCAGGCTCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGGCAGGAGAATGGCATGAAAGCAGGAGGCAGAGCTTGCAGTGAGCCGAGATTGCACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACGCCGTCTGAAAAAAAAAAAAAAATTTTCATAGGCCACCAGTTGCGGTGGCTCACACCTGTAATCCCAGCATTTGGGAGACTGAGGCGGGCAGATCACTTGAGCCCAAGAGTTCAAGACCAGTCTGGGCCACATAGTGAGACACCATCTCTACAAAAAAAATACAAAAAATTAACCAGCACCACGGTGCATGCCTGTACTCTCAGCTACTCAGGAGGCTGAGGTTGGAGGATCTCTGAGCCCAGGGAGACTGAGGCTGCAGTGAGCCATGATCACACCACTGCACTCCAGCCTGGGGGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAATCTTCATAGCCATTATTTTGTTTAACTGCCTCAAATGCAGCCCAATTTCATCTTCTTGCCCCCTAAATCTGCTGCCGCCCTCTGTGTCTCATGCTTAGAACTCCTGTAGCTGTTCAGTGGCAAGGGTGGGGGTGCTGAGGGGGCAGAGGTGAGGTTGATGATTTGGAGCCAAGTGATCAGGCTTCACTTCCAGCCCTGCCATGCCGTGTGTGACTTTGGCATATCATTTCCCCTCTCTGGGCTTCAGTTTCCCAACTGCAAAGAGGAAAATAACACCTGCCGAACCTCACAAGGCTTACAGTTCTTAAAAGGGTTCTGTAAACCATGGAGGGTTTTGAAGAAGTGGGTCATGGATAAGATTCCCACCTACTGGGCTCCAACCTGTGATGAAGCTGAAGAGGGACTGGATGTGGGCCCGATCCTTGAAGTAGGAGCGGCTGAGGCTGTTCCATATGACATCGGAGACCTTCTTCACCAGCTCACGGCTGGAGACACCCCCTTCTCGAGGATAGAGGGACAGGTCGACGGCGCCTCGGATCTGGGCGGTGAAGCGGGCATAGAGGGCGGCGATGATAGACAGGTCGGCCACGGGAAAGTAGGTGAGGCCGCCAGGCGGGTCGGGGGCGGGGCTGGGCTGGAAGGTGAGCTCGGGAACGTTGGTAGGGATGACGCGGTTGACAGCCAGAAAATGCTCCACGAAGCCCAGCACCAAGGAAAGGAGCACCAGGTCCGGCTCCTCTCGGCCCAGCTCGGCAGCAAACAGGCGCACCACGTCGTCGATGGAGCGCAGCGGGAACAGCGTCTTCTGGGCGGCCTTCAGCCCCATGGCGGCGGGCGGTGGGCGGCGGCCTGCAAGGCAAGCCGGGGGAGGGAGGGTCGGGCAGGTTCGGCCGGGGAGCCTCCTCCCAGGGTCCGCTAAGGTTCCACCCGCCCCGACACACGCACAGCTCCCCTGCTTCCCCACCCTCTTCAGCCTCTGCTCACCGGCTTCCCCTCTTTTGTCGGTGAGACCCCTCAGCCGAGACTGCAGAGCCTTTTTGTCCCCCACAATTCCGGGACGCCCGGTACCCGATGGGGTGCGCCCCAAGCACCCCAATGAGGAGCCCCAATGGCCGCCCCGCCCCCTCTCTACGACTGTGCCCCCGGGGCTGTAAAGTCTGTCCAGAAAGCGCACCCAGGTCAAGCCCCCAAACCCCAAGGAGAGTCCTGGCCTCGGTCCCCCTCGCCCACCTCCGCGCTTACATCCCACACTAGGCACCGCGGCGCACGCCGCCCGGAGCCTGCTGGGACATGAAGTCCCGCCCCTAGGGTCGCACTACCCGCCGGGAAGTGGAGTCTGGGCCCACCCCTGCCCCGCTGAGCCTGGAAATAGTGGCGGGCCGGGCCGCTGCGCTGTGGCTTCTGGGATCTCTAGGTCCGCGGCTCCGGACACCTCCTTCCCGAGATACTCAGGGATTGGCCCTTCCCTTCAGGCCGACCAGGCAGGAAGCGTGCCCGCAGTGCCTTCTGGAAAATGTAGTCCGGGGGCACTACCTGCAGACTCGGGGTGGGAGGTCGCCGAGCTTCTGCCGGTTTTGCTGTCACGGGTCGGTCGGCAAGTTATGAGGAAAAAGATCAGGTTGCTTGATCCAGAAAAAATTAAAATAAAACAATATGAGAAAAACAGATACTTTTAAACACTGCCAGAGAGTAAATGTGTTCAGCCGCTTTAGCTGGGTATCAGTGTCTGTTAACATATAAAGATGCCTACTCTGTGTGCAGCACTCGTTTCCCACTTCCGCCCGCGAGATACTCTAACACGTGCTAAGAGTAGCTTTTGTTTGTTTGTTTTGAGACACGGTCTTTCTCTTTCGCCCAGGCTGGAATGCAGTGGCTCGATCTGGGCTCACTGCAGCCTCGACTTCACGGGCTCAAGCGATTCTCGTGCCTCAGCCTCCCGAGTAGCTGTGATCACAGGCGTGCGCCACCACTCCCGCCTAATTTTGTGTGTATGTGCATATACATAAATATATATACATATAACACACACACACACACACACACACACACATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGCAGAGACAGGGATTCCCAGCTACTTGGGAGGCTGAGGCGCGGGGAATCCCTTGAACCTGGGAGGCGGAGGCTTCAGTGAGCCAGAATCTTGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGATTCCGTCTTAAAAAAAAGTCCCAAGTAGCTGGGATTATAGGCGTCCGCCACCACACCCAGAAAACTTTTTGTATTTTAAGTAGAGATGGGGTTTCACCATGTTGGCCAGACTGGTCTCGAACCCCTAACCTCAAGTGATCTGCCCGCCTCAGCCTCCCAAAGTGCTAAAATTACAGGCGTGAACCACCTTACCCGGCCAAAGAGTAGTTATTTGTTTATTTGTTTTGAGACAGAGTCTCGCTCTGTCACTCAGGCTGGAGTGCAGTGGGGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTTCTGCCTCAGCTTCCCAAGTAGCCGGGATTACAGGTGCCTGCCACCACACTTGGCTAATTTTTGTATTTTACTTAGTAGAGACAGGGGTGTCACCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCTCCTACCTCGGCCTCCAAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCTGGCCTGTATCAAC | GCCCTTGCCGTGCCAGGTGACCTCAGCTGTCTGCTCCCCATTGGGCCCAAACACTACCCAGGCATGATCCTCAGACAGGGCGAGGTGGACATCCCGGAGACCCAGGGCCTGGCAGGCCCCAACCACAGCAAAGGCCACACCGGAGCTGTCCAATTTGGTGCCTGTGGAAGGGGGAGGTAATGAAAGAGGGTCCTCTGTGCTTTAACATGGGGAAAGGGGGCCAGGTAGTGATGGGCCACACTCCCTCCCACTCCCTTTCCAAGCCTGTGACCCAACCTCAGATTCTCCTGCCCACTATCCCTCCATCCCTTCCCTCCCACGTGTTCAAAGACTCTCTCCCTGTTTACACCCTCTATGTCCAACAAGATACCTTTCTGGATATCCTGTAGCTGACCCAGCCTTTGGCCCTACCTCGTCTTTCTCTGCAACTCTATTATATATTCTATGGATTTAGGGATTCCATTTTACTGCACTTACTAGGTTAAAACAGGAATGGCAAAAACAGGACGCTGGCCAACACTCTCTGGCTATACACCCACCAACAAATAACCCTCATTTATCTCTGCACTCTTTTCCTGCTAAGCTGAGAAGCAGCCTCTGATTCCTTCTCAATATGGCACACCAGGATGGGATTGCCAGTCAACCGGGCTTGGTGCAAAGCTCTTTGCAAGCCCTGACTCTTAAGCCTTTTGAGGTCAAGCCCCTTCTCTGTCTCAAACATTTTTGACCAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCTCGTCTCTACTAAAAATCCAAAAAAAAATTAGCCAGGCATGGTGGCAGGCTCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGGCAGGAGAATGGCATGAAAGCAGGAGGCAGAGCTTGCAGTGAGCCGAGATTGCACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACGCCGTCTGAAAAAAAAAAAAAAATTTTCATAGGCCACCAGTTGCGGTGGCTCACACCTGTAATCCCAGCATTTGGGAGACTGAGGCGGGCAGATCACTTGAGCCCAAGAGTTCAAGACCAGTCTGGGCCACATAGTGAGACACCATCTCTACAAAAAAAATACAAAAAATTAACCAGCACCACGGTGCATGCCTGTACTCTCAGCTACTCAGGAGGCTGAGGTTGGAGGATCTCTGAGCCCAGGGAGACTGAGGCTGCAGTGAGCCATGATCACACCACTGCACTCCAGCCTGGGGGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAATCTTCATAGCCATTATTTTGTTTAACTGCCTCAAATGCAGCCCAATTTCATCTTCTTGCCCCCTAAATCTGCTGCCGCCCTCTGTGTCTCATGCTTAGAACTCCTGTAGCTGTTCAGTGGCAAGGGTGGGGGTGCTGAGGGGGCAGAGGTGAGGTTGATGATTTGGAGCCAAGTGATCAGGCTTCACTTCCAGCCCTGCCATGCCGTGTGTGACTTTGGCATATCATTTCCCCTCTCTGGGCTTCAGTTTCCCAACTGCAAAGAGGAAAATAACACCTGCCGAACCTCACAAGGCTTACAGTTCTTAAAAGGGTTCTGTAAACCATGGAGGGTTTTGAAGAAGTGGGTCATGGATAAGATTCCCACCTACTGGGCTCCAACCTGTGATGAAGCTGAAGAGGGACTGGATGTGGGCCCGATCCTTGAAGTAGGAGCGGCTGAGGCTGTTCCATATGACATCGGAGACCTTCTTCACCAGCTCACGGCTGGAGACACCCCCTTCTCGAGGATAGAGGGACAGGTCGACGGCGCCTCGGATCTGGGCGGTGAAGCGGGCATAGAGGGCGGCGATGATAGACAGGTCGGCCACGGGAAAGTAGGTGAGGCCGCCAGGCGGGTCGGGGGCGGGGCTGGGCTGGAAGGTGAGCTCGGGAACGTTGGTAGGGATGACGCGGTTGACAGCCAGAAAATGCTCCACGAAGCCCAGCACCAGGTCCGGCTCCTCTCGGCCCAGCTCGGCAGCAAACAGGCGCACCACGTCGTCGATGGAGCGCAGCGGGAACAGCGTCTTCTGGGCGGCCTTCAGCCCCATGGCGGCGGGCGGTGGGCGGCGGCCTGCAAGGCAAGCCGGGGGAGGGAGGGTCGGGCAGGTTCGGCCGGGGAGCCTCCTCCCAGGGTCCGCTAAGGTTCCACCCGCCCCGACACACGCACAGCTCCCCTGCTTCCCCACCCTCTTCAGCCTCTGCTCACCGGCTTCCCCTCTTTTGTCGGTGAGACCCCTCAGCCGAGACTGCAGAGCCTTTTTGTCCCCCACAATTCCGGGACGCCCGGTACCCGATGGGGTGCGCCCCAAGCACCCCAATGAGGAGCCCCAATGGCCGCCCCGCCCCCTCTCTACGACTGTGCCCCCGGGGCTGTAAAGTCTGTCCAGAAAGCGCACCCAGGTCAAGCCCCCAAACCCCAAGGAGAGTCCTGGCCTCGGTCCCCCTCGCCCACCTCCGCGCTTACATCCCACACTAGGCACCGCGGCGCACGCCGCCCGGAGCCTGCTGGGACATGAAGTCCCGCCCCTAGGGTCGCACTACCCGCCGGGAAGTGGAGTCTGGGCCCACCCCTGCCCCGCTGAGCCTGGAAATAGTGGCGGGCCGGGCCGCTGCGCTGTGGCTTCTGGGATCTCTAGGTCCGCGGCTCCGGACACCTCCTTCCCGAGATACTCAGGGATTGGCCCTTCCCTTCAGGCCGACCAGGCAGGAAGCGTGCCCGCAGTGCCTTCTGGAAAATGTAGTCCGGGGGCACTACCTGCAGACTCGGGGTGGGAGGTCGCCGAGCTTCTGCCGGTTTTGCTGTCACGGGTCGGTCGGCAAGTTATGAGGAAAAAGATCAGGTTGCTTGATCCAGAAAAAATTAAAATAAAACAATATGAGAAAAACAGATACTTTTAAACACTGCCAGAGAGTAAATGTGTTCAGCCGCTTTAGCTGGGTATCAGTGTCTGTTAACATATAAAGATGCCTACTCTGTGTGCAGCACTCGTTTCCCACTTCCGCCCGCGAGATACTCTAACACGTGCTAAGAGTAGCTTTTGTTTGTTTGTTTTGAGACACGGTCTTTCTCTTTCGCCCAGGCTGGAATGCAGTGGCTCGATCTGGGCTCACTGCAGCCTCGACTTCACGGGCTCAAGCGATTCTCGTGCCTCAGCCTCCCGAGTAGCTGTGATCACAGGCGTGCGCCACCACTCCCGCCTAATTTTGTGTGTATGTGCATATACATAAATATATATACATATAACACACACACACACACACACACACACACATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGCAGAGACAGGGATTCCCAGCTACTTGGGAGGCTGAGGCGCGGGGAATCCCTTGAACCTGGGAGGCGGAGGCTTCAGTGAGCCAGAATCTTGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGATTCCGTCTTAAAAAAAAGTCCCAAGTAGCTGGGATTATAGGCGTCCGCCACCACACCCAGAAAACTTTTTGTATTTTAAGTAGAGATGGGGTTTCACCATGTTGGCCAGACTGGTCTCGAACCCCTAACCTCAAGTGATCTGCCCGCCTCAGCCTCCCAAAGTGCTAAAATTACAGGCGTGAACCACCTTACCCGGCCAAAGAGTAGTTATTTGTTTATTTGTTTTGAGACAGAGTCTCGCTCTGTCACTCAGGCTGGAGTGCAGTGGGGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTTCTGCCTCAGCTTCCCAAGTAGCCGGGATTACAGGTGCCTGCCACCACACTTGGCTAATTTTTGTATTTTACTTAGTAGAGACAGGGGTGTCACCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCTCCTACCTCGGCCTCCAAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCTGGCCTGTATCAACNNNNNNNNNNNNNNN | pathogenic | 178,109 |
Determine whether the variant at chromosome 11, position 64810004, in gene MEN1 (menin 1) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Multiple_endocrine_neoplasia,_type_1'] | TGACCTCAGCTGTCTGCTCCCCATTGGGCCCAAACACTACCCAGGCATGATCCTCAGACAGGGCGAGGTGGACATCCCGGAGACCCAGGGCCTGGCAGGCCCCAACCACAGCAAAGGCCACACCGGAGCTGTCCAATTTGGTGCCTGTGGAAGGGGGAGGTAATGAAAGAGGGTCCTCTGTGCTTTAACATGGGGAAAGGGGGCCAGGTAGTGATGGGCCACACTCCCTCCCACTCCCTTTCCAAGCCTGTGACCCAACCTCAGATTCTCCTGCCCACTATCCCTCCATCCCTTCCCTCCCACGTGTTCAAAGACTCTCTCCCTGTTTACACCCTCTATGTCCAACAAGATACCTTTCTGGATATCCTGTAGCTGACCCAGCCTTTGGCCCTACCTCGTCTTTCTCTGCAACTCTATTATATATTCTATGGATTTAGGGATTCCATTTTACTGCACTTACTAGGTTAAAACAGGAATGGCAAAAACAGGACGCTGGCCAACACTCTCTGGCTATACACCCACCAACAAATAACCCTCATTTATCTCTGCACTCTTTTCCTGCTAAGCTGAGAAGCAGCCTCTGATTCCTTCTCAATATGGCACACCAGGATGGGATTGCCAGTCAACCGGGCTTGGTGCAAAGCTCTTTGCAAGCCCTGACTCTTAAGCCTTTTGAGGTCAAGCCCCTTCTCTGTCTCAAACATTTTTGACCAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCTCGTCTCTACTAAAAATCCAAAAAAAAATTAGCCAGGCATGGTGGCAGGCTCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGGCAGGAGAATGGCATGAAAGCAGGAGGCAGAGCTTGCAGTGAGCCGAGATTGCACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACGCCGTCTGAAAAAAAAAAAAAAATTTTCATAGGCCACCAGTTGCGGTGGCTCACACCTGTAATCCCAGCATTTGGGAGACTGAGGCGGGCAGATCACTTGAGCCCAAGAGTTCAAGACCAGTCTGGGCCACATAGTGAGACACCATCTCTACAAAAAAAATACAAAAAATTAACCAGCACCACGGTGCATGCCTGTACTCTCAGCTACTCAGGAGGCTGAGGTTGGAGGATCTCTGAGCCCAGGGAGACTGAGGCTGCAGTGAGCCATGATCACACCACTGCACTCCAGCCTGGGGGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAATCTTCATAGCCATTATTTTGTTTAACTGCCTCAAATGCAGCCCAATTTCATCTTCTTGCCCCCTAAATCTGCTGCCGCCCTCTGTGTCTCATGCTTAGAACTCCTGTAGCTGTTCAGTGGCAAGGGTGGGGGTGCTGAGGGGGCAGAGGTGAGGTTGATGATTTGGAGCCAAGTGATCAGGCTTCACTTCCAGCCCTGCCATGCCGTGTGTGACTTTGGCATATCATTTCCCCTCTCTGGGCTTCAGTTTCCCAACTGCAAAGAGGAAAATAACACCTGCCGAACCTCACAAGGCTTACAGTTCTTAAAAGGGTTCTGTAAACCATGGAGGGTTTTGAAGAAGTGGGTCATGGATAAGATTCCCACCTACTGGGCTCCAACCTGTGATGAAGCTGAAGAGGGACTGGATGTGGGCCCGATCCTTGAAGTAGGAGCGGCTGAGGCTGTTCCATATGACATCGGAGACCTTCTTCACCAGCTCACGGCTGGAGACACCCCCTTCTCGAGGATAGAGGGACAGGTCGACGGCGCCTCGGATCTGGGCGGTGAAGCGGGCATAGAGGGCGGCGATGATAGACAGGTCGGCCACGGGAAAGTAGGTGAGGCCGCCAGGCGGGTCGGGGGCGGGGCTGGGCTGGAAGGTGAGCTCGGGAACGTTGGTAGGGATGACGCGGTTGACAGCCAGAAAATGCTCCACGAAGCCCAGCACCAAGGAAAGGAGCACCAGGTCCGGCTCCTCTCGGCCCAGCTCGGCAGCAAACAGGCGCACCACGTCGTCGATGGAGCGCAGCGGGAACAGCGTCTTCTGGGCGGCCTTCAGCCCCATGGCGGCGGGCGGTGGGCGGCGGCCTGCAAGGCAAGCCGGGGGAGGGAGGGTCGGGCAGGTTCGGCCGGGGAGCCTCCTCCCAGGGTCCGCTAAGGTTCCACCCGCCCCGACACACGCACAGCTCCCCTGCTTCCCCACCCTCTTCAGCCTCTGCTCACCGGCTTCCCCTCTTTTGTCGGTGAGACCCCTCAGCCGAGACTGCAGAGCCTTTTTGTCCCCCACAATTCCGGGACGCCCGGTACCCGATGGGGTGCGCCCCAAGCACCCCAATGAGGAGCCCCAATGGCCGCCCCGCCCCCTCTCTACGACTGTGCCCCCGGGGCTGTAAAGTCTGTCCAGAAAGCGCACCCAGGTCAAGCCCCCAAACCCCAAGGAGAGTCCTGGCCTCGGTCCCCCTCGCCCACCTCCGCGCTTACATCCCACACTAGGCACCGCGGCGCACGCCGCCCGGAGCCTGCTGGGACATGAAGTCCCGCCCCTAGGGTCGCACTACCCGCCGGGAAGTGGAGTCTGGGCCCACCCCTGCCCCGCTGAGCCTGGAAATAGTGGCGGGCCGGGCCGCTGCGCTGTGGCTTCTGGGATCTCTAGGTCCGCGGCTCCGGACACCTCCTTCCCGAGATACTCAGGGATTGGCCCTTCCCTTCAGGCCGACCAGGCAGGAAGCGTGCCCGCAGTGCCTTCTGGAAAATGTAGTCCGGGGGCACTACCTGCAGACTCGGGGTGGGAGGTCGCCGAGCTTCTGCCGGTTTTGCTGTCACGGGTCGGTCGGCAAGTTATGAGGAAAAAGATCAGGTTGCTTGATCCAGAAAAAATTAAAATAAAACAATATGAGAAAAACAGATACTTTTAAACACTGCCAGAGAGTAAATGTGTTCAGCCGCTTTAGCTGGGTATCAGTGTCTGTTAACATATAAAGATGCCTACTCTGTGTGCAGCACTCGTTTCCCACTTCCGCCCGCGAGATACTCTAACACGTGCTAAGAGTAGCTTTTGTTTGTTTGTTTTGAGACACGGTCTTTCTCTTTCGCCCAGGCTGGAATGCAGTGGCTCGATCTGGGCTCACTGCAGCCTCGACTTCACGGGCTCAAGCGATTCTCGTGCCTCAGCCTCCCGAGTAGCTGTGATCACAGGCGTGCGCCACCACTCCCGCCTAATTTTGTGTGTATGTGCATATACATAAATATATATACATATAACACACACACACACACACACACACACACATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGCAGAGACAGGGATTCCCAGCTACTTGGGAGGCTGAGGCGCGGGGAATCCCTTGAACCTGGGAGGCGGAGGCTTCAGTGAGCCAGAATCTTGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGATTCCGTCTTAAAAAAAAGTCCCAAGTAGCTGGGATTATAGGCGTCCGCCACCACACCCAGAAAACTTTTTGTATTTTAAGTAGAGATGGGGTTTCACCATGTTGGCCAGACTGGTCTCGAACCCCTAACCTCAAGTGATCTGCCCGCCTCAGCCTCCCAAAGTGCTAAAATTACAGGCGTGAACCACCTTACCCGGCCAAAGAGTAGTTATTTGTTTATTTGTTTTGAGACAGAGTCTCGCTCTGTCACTCAGGCTGGAGTGCAGTGGGGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTTCTGCCTCAGCTTCCCAAGTAGCCGGGATTACAGGTGCCTGCCACCACACTTGGCTAATTTTTGTATTTTACTTAGTAGAGACAGGGGTGTCACCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCTCCTACCTCGGCCTCCAAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCTGGCCTGTATCAACAACGCTTTGAAACTTTG | TGACCTCAGCTGTCTGCTCCCCATTGGGCCCAAACACTACCCAGGCATGATCCTCAGACAGGGCGAGGTGGACATCCCGGAGACCCAGGGCCTGGCAGGCCCCAACCACAGCAAAGGCCACACCGGAGCTGTCCAATTTGGTGCCTGTGGAAGGGGGAGGTAATGAAAGAGGGTCCTCTGTGCTTTAACATGGGGAAAGGGGGCCAGGTAGTGATGGGCCACACTCCCTCCCACTCCCTTTCCAAGCCTGTGACCCAACCTCAGATTCTCCTGCCCACTATCCCTCCATCCCTTCCCTCCCACGTGTTCAAAGACTCTCTCCCTGTTTACACCCTCTATGTCCAACAAGATACCTTTCTGGATATCCTGTAGCTGACCCAGCCTTTGGCCCTACCTCGTCTTTCTCTGCAACTCTATTATATATTCTATGGATTTAGGGATTCCATTTTACTGCACTTACTAGGTTAAAACAGGAATGGCAAAAACAGGACGCTGGCCAACACTCTCTGGCTATACACCCACCAACAAATAACCCTCATTTATCTCTGCACTCTTTTCCTGCTAAGCTGAGAAGCAGCCTCTGATTCCTTCTCAATATGGCACACCAGGATGGGATTGCCAGTCAACCGGGCTTGGTGCAAAGCTCTTTGCAAGCCCTGACTCTTAAGCCTTTTGAGGTCAAGCCCCTTCTCTGTCTCAAACATTTTTGACCAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCTCGTCTCTACTAAAAATCCAAAAAAAAATTAGCCAGGCATGGTGGCAGGCTCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGGCAGGAGAATGGCATGAAAGCAGGAGGCAGAGCTTGCAGTGAGCCGAGATTGCACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACGCCGTCTGAAAAAAAAAAAAAAATTTTCATAGGCCACCAGTTGCGGTGGCTCACACCTGTAATCCCAGCATTTGGGAGACTGAGGCGGGCAGATCACTTGAGCCCAAGAGTTCAAGACCAGTCTGGGCCACATAGTGAGACACCATCTCTACAAAAAAAATACAAAAAATTAACCAGCACCACGGTGCATGCCTGTACTCTCAGCTACTCAGGAGGCTGAGGTTGGAGGATCTCTGAGCCCAGGGAGACTGAGGCTGCAGTGAGCCATGATCACACCACTGCACTCCAGCCTGGGGGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAATCTTCATAGCCATTATTTTGTTTAACTGCCTCAAATGCAGCCCAATTTCATCTTCTTGCCCCCTAAATCTGCTGCCGCCCTCTGTGTCTCATGCTTAGAACTCCTGTAGCTGTTCAGTGGCAAGGGTGGGGGTGCTGAGGGGGCAGAGGTGAGGTTGATGATTTGGAGCCAAGTGATCAGGCTTCACTTCCAGCCCTGCCATGCCGTGTGTGACTTTGGCATATCATTTCCCCTCTCTGGGCTTCAGTTTCCCAACTGCAAAGAGGAAAATAACACCTGCCGAACCTCACAAGGCTTACAGTTCTTAAAAGGGTTCTGTAAACCATGGAGGGTTTTGAAGAAGTGGGTCATGGATAAGATTCCCACCTACTGGGCTCCAACCTGTGATGAAGCTGAAGAGGGACTGGATGTGGGCCCGATCCTTGAAGTAGGAGCGGCTGAGGCTGTTCCATATGACATCGGAGACCTTCTTCACCAGCTCACGGCTGGAGACACCCCCTTCTCGAGGATAGAGGGACAGGTCGACGGCGCCTCGGATCTGGGCGGTGAAGCGGGCATAGAGGGCGGCGATGATAGACAGGTCGGCCACGGGAAAGTAGGTGAGGCCGCCAGGCGGGTCGGGGGCGGGGCTGGGCTGGAAGGTGAGCTCGGGAACGTTGGTAGGGATGACGCGGTTGACAGCCAGAAAATGCTCCACGAAGCCCAGCACCAAGGAAAGGAGCCACCAGGTCCGGCTCCTCTCGGCCCAGCTCGGCAGCAAACAGGCGCACCACGTCGTCGATGGAGCGCAGCGGGAACAGCGTCTTCTGGGCGGCCTTCAGCCCCATGGCGGCGGGCGGTGGGCGGCGGCCTGCAAGGCAAGCCGGGGGAGGGAGGGTCGGGCAGGTTCGGCCGGGGAGCCTCCTCCCAGGGTCCGCTAAGGTTCCACCCGCCCCGACACACGCACAGCTCCCCTGCTTCCCCACCCTCTTCAGCCTCTGCTCACCGGCTTCCCCTCTTTTGTCGGTGAGACCCCTCAGCCGAGACTGCAGAGCCTTTTTGTCCCCCACAATTCCGGGACGCCCGGTACCCGATGGGGTGCGCCCCAAGCACCCCAATGAGGAGCCCCAATGGCCGCCCCGCCCCCTCTCTACGACTGTGCCCCCGGGGCTGTAAAGTCTGTCCAGAAAGCGCACCCAGGTCAAGCCCCCAAACCCCAAGGAGAGTCCTGGCCTCGGTCCCCCTCGCCCACCTCCGCGCTTACATCCCACACTAGGCACCGCGGCGCACGCCGCCCGGAGCCTGCTGGGACATGAAGTCCCGCCCCTAGGGTCGCACTACCCGCCGGGAAGTGGAGTCTGGGCCCACCCCTGCCCCGCTGAGCCTGGAAATAGTGGCGGGCCGGGCCGCTGCGCTGTGGCTTCTGGGATCTCTAGGTCCGCGGCTCCGGACACCTCCTTCCCGAGATACTCAGGGATTGGCCCTTCCCTTCAGGCCGACCAGGCAGGAAGCGTGCCCGCAGTGCCTTCTGGAAAATGTAGTCCGGGGGCACTACCTGCAGACTCGGGGTGGGAGGTCGCCGAGCTTCTGCCGGTTTTGCTGTCACGGGTCGGTCGGCAAGTTATGAGGAAAAAGATCAGGTTGCTTGATCCAGAAAAAATTAAAATAAAACAATATGAGAAAAACAGATACTTTTAAACACTGCCAGAGAGTAAATGTGTTCAGCCGCTTTAGCTGGGTATCAGTGTCTGTTAACATATAAAGATGCCTACTCTGTGTGCAGCACTCGTTTCCCACTTCCGCCCGCGAGATACTCTAACACGTGCTAAGAGTAGCTTTTGTTTGTTTGTTTTGAGACACGGTCTTTCTCTTTCGCCCAGGCTGGAATGCAGTGGCTCGATCTGGGCTCACTGCAGCCTCGACTTCACGGGCTCAAGCGATTCTCGTGCCTCAGCCTCCCGAGTAGCTGTGATCACAGGCGTGCGCCACCACTCCCGCCTAATTTTGTGTGTATGTGCATATACATAAATATATATACATATAACACACACACACACACACACACACACACATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGCAGAGACAGGGATTCCCAGCTACTTGGGAGGCTGAGGCGCGGGGAATCCCTTGAACCTGGGAGGCGGAGGCTTCAGTGAGCCAGAATCTTGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGATTCCGTCTTAAAAAAAAGTCCCAAGTAGCTGGGATTATAGGCGTCCGCCACCACACCCAGAAAACTTTTTGTATTTTAAGTAGAGATGGGGTTTCACCATGTTGGCCAGACTGGTCTCGAACCCCTAACCTCAAGTGATCTGCCCGCCTCAGCCTCCCAAAGTGCTAAAATTACAGGCGTGAACCACCTTACCCGGCCAAAGAGTAGTTATTTGTTTATTTGTTTTGAGACAGAGTCTCGCTCTGTCACTCAGGCTGGAGTGCAGTGGGGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTTCTGCCTCAGCTTCCCAAGTAGCCGGGATTACAGGTGCCTGCCACCACACTTGGCTAATTTTTGTATTTTACTTAGTAGAGACAGGGGTGTCACCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCTCCTACCTCGGCCTCCAAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCTGGCCTGTATCAACAACGCTTTGAAACTTT | pathogenic | 178,115 |
Considering the variant on chromosome 11, location 64810092, involving gene MEN1 (menin 1), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Multiple_endocrine_neoplasia,_type_1'] | GGCCTGGCAGGCCCCAACCACAGCAAAGGCCACACCGGAGCTGTCCAATTTGGTGCCTGTGGAAGGGGGAGGTAATGAAAGAGGGTCCTCTGTGCTTTAACATGGGGAAAGGGGGCCAGGTAGTGATGGGCCACACTCCCTCCCACTCCCTTTCCAAGCCTGTGACCCAACCTCAGATTCTCCTGCCCACTATCCCTCCATCCCTTCCCTCCCACGTGTTCAAAGACTCTCTCCCTGTTTACACCCTCTATGTCCAACAAGATACCTTTCTGGATATCCTGTAGCTGACCCAGCCTTTGGCCCTACCTCGTCTTTCTCTGCAACTCTATTATATATTCTATGGATTTAGGGATTCCATTTTACTGCACTTACTAGGTTAAAACAGGAATGGCAAAAACAGGACGCTGGCCAACACTCTCTGGCTATACACCCACCAACAAATAACCCTCATTTATCTCTGCACTCTTTTCCTGCTAAGCTGAGAAGCAGCCTCTGATTCCTTCTCAATATGGCACACCAGGATGGGATTGCCAGTCAACCGGGCTTGGTGCAAAGCTCTTTGCAAGCCCTGACTCTTAAGCCTTTTGAGGTCAAGCCCCTTCTCTGTCTCAAACATTTTTGACCAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCTCGTCTCTACTAAAAATCCAAAAAAAAATTAGCCAGGCATGGTGGCAGGCTCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGGCAGGAGAATGGCATGAAAGCAGGAGGCAGAGCTTGCAGTGAGCCGAGATTGCACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACGCCGTCTGAAAAAAAAAAAAAAATTTTCATAGGCCACCAGTTGCGGTGGCTCACACCTGTAATCCCAGCATTTGGGAGACTGAGGCGGGCAGATCACTTGAGCCCAAGAGTTCAAGACCAGTCTGGGCCACATAGTGAGACACCATCTCTACAAAAAAAATACAAAAAATTAACCAGCACCACGGTGCATGCCTGTACTCTCAGCTACTCAGGAGGCTGAGGTTGGAGGATCTCTGAGCCCAGGGAGACTGAGGCTGCAGTGAGCCATGATCACACCACTGCACTCCAGCCTGGGGGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAATCTTCATAGCCATTATTTTGTTTAACTGCCTCAAATGCAGCCCAATTTCATCTTCTTGCCCCCTAAATCTGCTGCCGCCCTCTGTGTCTCATGCTTAGAACTCCTGTAGCTGTTCAGTGGCAAGGGTGGGGGTGCTGAGGGGGCAGAGGTGAGGTTGATGATTTGGAGCCAAGTGATCAGGCTTCACTTCCAGCCCTGCCATGCCGTGTGTGACTTTGGCATATCATTTCCCCTCTCTGGGCTTCAGTTTCCCAACTGCAAAGAGGAAAATAACACCTGCCGAACCTCACAAGGCTTACAGTTCTTAAAAGGGTTCTGTAAACCATGGAGGGTTTTGAAGAAGTGGGTCATGGATAAGATTCCCACCTACTGGGCTCCAACCTGTGATGAAGCTGAAGAGGGACTGGATGTGGGCCCGATCCTTGAAGTAGGAGCGGCTGAGGCTGTTCCATATGACATCGGAGACCTTCTTCACCAGCTCACGGCTGGAGACACCCCCTTCTCGAGGATAGAGGGACAGGTCGACGGCGCCTCGGATCTGGGCGGTGAAGCGGGCATAGAGGGCGGCGATGATAGACAGGTCGGCCACGGGAAAGTAGGTGAGGCCGCCAGGCGGGTCGGGGGCGGGGCTGGGCTGGAAGGTGAGCTCGGGAACGTTGGTAGGGATGACGCGGTTGACAGCCAGAAAATGCTCCACGAAGCCCAGCACCAAGGAAAGGAGCACCAGGTCCGGCTCCTCTCGGCCCAGCTCGGCAGCAAACAGGCGCACCACGTCGTCGATGGAGCGCAGCGGGAACAGCGTCTTCTGGGCGGCCTTCAGCCCCATGGCGGCGGGCGGTGGGCGGCGGCCTGCAAGGCAAGCCGGGGGAGGGAGGGTCGGGCAGGTTCGGCCGGGGAGCCTCCTCCCAGGGTCCGCTAAGGTTCCACCCGCCCCGACACACGCACAGCTCCCCTGCTTCCCCACCCTCTTCAGCCTCTGCTCACCGGCTTCCCCTCTTTTGTCGGTGAGACCCCTCAGCCGAGACTGCAGAGCCTTTTTGTCCCCCACAATTCCGGGACGCCCGGTACCCGATGGGGTGCGCCCCAAGCACCCCAATGAGGAGCCCCAATGGCCGCCCCGCCCCCTCTCTACGACTGTGCCCCCGGGGCTGTAAAGTCTGTCCAGAAAGCGCACCCAGGTCAAGCCCCCAAACCCCAAGGAGAGTCCTGGCCTCGGTCCCCCTCGCCCACCTCCGCGCTTACATCCCACACTAGGCACCGCGGCGCACGCCGCCCGGAGCCTGCTGGGACATGAAGTCCCGCCCCTAGGGTCGCACTACCCGCCGGGAAGTGGAGTCTGGGCCCACCCCTGCCCCGCTGAGCCTGGAAATAGTGGCGGGCCGGGCCGCTGCGCTGTGGCTTCTGGGATCTCTAGGTCCGCGGCTCCGGACACCTCCTTCCCGAGATACTCAGGGATTGGCCCTTCCCTTCAGGCCGACCAGGCAGGAAGCGTGCCCGCAGTGCCTTCTGGAAAATGTAGTCCGGGGGCACTACCTGCAGACTCGGGGTGGGAGGTCGCCGAGCTTCTGCCGGTTTTGCTGTCACGGGTCGGTCGGCAAGTTATGAGGAAAAAGATCAGGTTGCTTGATCCAGAAAAAATTAAAATAAAACAATATGAGAAAAACAGATACTTTTAAACACTGCCAGAGAGTAAATGTGTTCAGCCGCTTTAGCTGGGTATCAGTGTCTGTTAACATATAAAGATGCCTACTCTGTGTGCAGCACTCGTTTCCCACTTCCGCCCGCGAGATACTCTAACACGTGCTAAGAGTAGCTTTTGTTTGTTTGTTTTGAGACACGGTCTTTCTCTTTCGCCCAGGCTGGAATGCAGTGGCTCGATCTGGGCTCACTGCAGCCTCGACTTCACGGGCTCAAGCGATTCTCGTGCCTCAGCCTCCCGAGTAGCTGTGATCACAGGCGTGCGCCACCACTCCCGCCTAATTTTGTGTGTATGTGCATATACATAAATATATATACATATAACACACACACACACACACACACACACACATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGCAGAGACAGGGATTCCCAGCTACTTGGGAGGCTGAGGCGCGGGGAATCCCTTGAACCTGGGAGGCGGAGGCTTCAGTGAGCCAGAATCTTGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGATTCCGTCTTAAAAAAAAGTCCCAAGTAGCTGGGATTATAGGCGTCCGCCACCACACCCAGAAAACTTTTTGTATTTTAAGTAGAGATGGGGTTTCACCATGTTGGCCAGACTGGTCTCGAACCCCTAACCTCAAGTGATCTGCCCGCCTCAGCCTCCCAAAGTGCTAAAATTACAGGCGTGAACCACCTTACCCGGCCAAAGAGTAGTTATTTGTTTATTTGTTTTGAGACAGAGTCTCGCTCTGTCACTCAGGCTGGAGTGCAGTGGGGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTTCTGCCTCAGCTTCCCAAGTAGCCGGGATTACAGGTGCCTGCCACCACACTTGGCTAATTTTTGTATTTTACTTAGTAGAGACAGGGGTGTCACCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCTCCTACCTCGGCCTCCAAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCTGGCCTGTATCAACAACGCTTTGAAACTTTGAAATAATACTAAATTTCCACGGTCACTCATTTATTTGCTTATTCATTCAAAAAAAACAGATTTTTGGTACTTACCATGGGCCAAGTTC | GGCCTGGCAGGCCCCAACCACAGCAAAGGCCACACCGGAGCTGTCCAATTTGGTGCCTGTGGAAGGGGGAGGTAATGAAAGAGGGTCCTCTGTGCTTTAACATGGGGAAAGGGGGCCAGGTAGTGATGGGCCACACTCCCTCCCACTCCCTTTCCAAGCCTGTGACCCAACCTCAGATTCTCCTGCCCACTATCCCTCCATCCCTTCCCTCCCACGTGTTCAAAGACTCTCTCCCTGTTTACACCCTCTATGTCCAACAAGATACCTTTCTGGATATCCTGTAGCTGACCCAGCCTTTGGCCCTACCTCGTCTTTCTCTGCAACTCTATTATATATTCTATGGATTTAGGGATTCCATTTTACTGCACTTACTAGGTTAAAACAGGAATGGCAAAAACAGGACGCTGGCCAACACTCTCTGGCTATACACCCACCAACAAATAACCCTCATTTATCTCTGCACTCTTTTCCTGCTAAGCTGAGAAGCAGCCTCTGATTCCTTCTCAATATGGCACACCAGGATGGGATTGCCAGTCAACCGGGCTTGGTGCAAAGCTCTTTGCAAGCCCTGACTCTTAAGCCTTTTGAGGTCAAGCCCCTTCTCTGTCTCAAACATTTTTGACCAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCTCGTCTCTACTAAAAATCCAAAAAAAAATTAGCCAGGCATGGTGGCAGGCTCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGGCAGGAGAATGGCATGAAAGCAGGAGGCAGAGCTTGCAGTGAGCCGAGATTGCACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACGCCGTCTGAAAAAAAAAAAAAAATTTTCATAGGCCACCAGTTGCGGTGGCTCACACCTGTAATCCCAGCATTTGGGAGACTGAGGCGGGCAGATCACTTGAGCCCAAGAGTTCAAGACCAGTCTGGGCCACATAGTGAGACACCATCTCTACAAAAAAAATACAAAAAATTAACCAGCACCACGGTGCATGCCTGTACTCTCAGCTACTCAGGAGGCTGAGGTTGGAGGATCTCTGAGCCCAGGGAGACTGAGGCTGCAGTGAGCCATGATCACACCACTGCACTCCAGCCTGGGGGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAATCTTCATAGCCATTATTTTGTTTAACTGCCTCAAATGCAGCCCAATTTCATCTTCTTGCCCCCTAAATCTGCTGCCGCCCTCTGTGTCTCATGCTTAGAACTCCTGTAGCTGTTCAGTGGCAAGGGTGGGGGTGCTGAGGGGGCAGAGGTGAGGTTGATGATTTGGAGCCAAGTGATCAGGCTTCACTTCCAGCCCTGCCATGCCGTGTGTGACTTTGGCATATCATTTCCCCTCTCTGGGCTTCAGTTTCCCAACTGCAAAGAGGAAAATAACACCTGCCGAACCTCACAAGGCTTACAGTTCTTAAAAGGGTTCTGTAAACCATGGAGGGTTTTGAAGAAGTGGGTCATGGATAAGATTCCCACCTACTGGGCTCCAACCTGTGATGAAGCTGAAGAGGGACTGGATGTGGGCCCGATCCTTGAAGTAGGAGCGGCTGAGGCTGTTCCATATGACATCGGAGACCTTCTTCACCAGCTCACGGCTGGAGACACCCCCTTCTCGAGGATAGAGGGACAGGTCGACGGCGCCTCGGATCTGGGCGGTGAAGCGGGCATAGAGGGCGGCGATGATAGACAGGTCGGCCACGGGAAAGTAGGTGAGGCCGCCAGGCGGGTCGGGGGCGGGGCTGGGCTGGAAGGTGAGCTCGGGAACGTTGGTAGGGATGACGCGGTTGACAGCCAGAAAATGCTCCACGAAGCCCAGCACCAAGGAAAGGAGCACCAGGTCCGGCTCCTCTCGGCCCAGCTCGGCAGCAAACAGGCGCACCACGTCGTCGATGGAGCGCAGCGGGAACAGCGTCTTCTGGGGCCTTCAGCCCCATGGCGGCGGGCGGTGGGCGGCGGCCTGCAAGGCAAGCCGGGGGAGGGAGGGTCGGGCAGGTTCGGCCGGGGAGCCTCCTCCCAGGGTCCGCTAAGGTTCCACCCGCCCCGACACACGCACAGCTCCCCTGCTTCCCCACCCTCTTCAGCCTCTGCTCACCGGCTTCCCCTCTTTTGTCGGTGAGACCCCTCAGCCGAGACTGCAGAGCCTTTTTGTCCCCCACAATTCCGGGACGCCCGGTACCCGATGGGGTGCGCCCCAAGCACCCCAATGAGGAGCCCCAATGGCCGCCCCGCCCCCTCTCTACGACTGTGCCCCCGGGGCTGTAAAGTCTGTCCAGAAAGCGCACCCAGGTCAAGCCCCCAAACCCCAAGGAGAGTCCTGGCCTCGGTCCCCCTCGCCCACCTCCGCGCTTACATCCCACACTAGGCACCGCGGCGCACGCCGCCCGGAGCCTGCTGGGACATGAAGTCCCGCCCCTAGGGTCGCACTACCCGCCGGGAAGTGGAGTCTGGGCCCACCCCTGCCCCGCTGAGCCTGGAAATAGTGGCGGGCCGGGCCGCTGCGCTGTGGCTTCTGGGATCTCTAGGTCCGCGGCTCCGGACACCTCCTTCCCGAGATACTCAGGGATTGGCCCTTCCCTTCAGGCCGACCAGGCAGGAAGCGTGCCCGCAGTGCCTTCTGGAAAATGTAGTCCGGGGGCACTACCTGCAGACTCGGGGTGGGAGGTCGCCGAGCTTCTGCCGGTTTTGCTGTCACGGGTCGGTCGGCAAGTTATGAGGAAAAAGATCAGGTTGCTTGATCCAGAAAAAATTAAAATAAAACAATATGAGAAAAACAGATACTTTTAAACACTGCCAGAGAGTAAATGTGTTCAGCCGCTTTAGCTGGGTATCAGTGTCTGTTAACATATAAAGATGCCTACTCTGTGTGCAGCACTCGTTTCCCACTTCCGCCCGCGAGATACTCTAACACGTGCTAAGAGTAGCTTTTGTTTGTTTGTTTTGAGACACGGTCTTTCTCTTTCGCCCAGGCTGGAATGCAGTGGCTCGATCTGGGCTCACTGCAGCCTCGACTTCACGGGCTCAAGCGATTCTCGTGCCTCAGCCTCCCGAGTAGCTGTGATCACAGGCGTGCGCCACCACTCCCGCCTAATTTTGTGTGTATGTGCATATACATAAATATATATACATATAACACACACACACACACACACACACACACATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGCAGAGACAGGGATTCCCAGCTACTTGGGAGGCTGAGGCGCGGGGAATCCCTTGAACCTGGGAGGCGGAGGCTTCAGTGAGCCAGAATCTTGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGATTCCGTCTTAAAAAAAAGTCCCAAGTAGCTGGGATTATAGGCGTCCGCCACCACACCCAGAAAACTTTTTGTATTTTAAGTAGAGATGGGGTTTCACCATGTTGGCCAGACTGGTCTCGAACCCCTAACCTCAAGTGATCTGCCCGCCTCAGCCTCCCAAAGTGCTAAAATTACAGGCGTGAACCACCTTACCCGGCCAAAGAGTAGTTATTTGTTTATTTGTTTTGAGACAGAGTCTCGCTCTGTCACTCAGGCTGGAGTGCAGTGGGGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTTCTGCCTCAGCTTCCCAAGTAGCCGGGATTACAGGTGCCTGCCACCACACTTGGCTAATTTTTGTATTTTACTTAGTAGAGACAGGGGTGTCACCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCTCCTACCTCGGCCTCCAAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCTGGCCTGTATCAACAACGCTTTGAAACTTTGAAATAATACTAAATTTCCACGGTCACTCATTTATTTGCTTATTCATTCAAAAAAAACAGATTTTTGGTACTTACCATGGGCCAAGTTCNN | pathogenic | 178,145 |
Variant at chromosome position 64810103, chromosome 11, gene MEN1 (menin 1): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Multiple_endocrine_neoplasia,_type_1'] | CCCCAACCACAGCAAAGGCCACACCGGAGCTGTCCAATTTGGTGCCTGTGGAAGGGGGAGGTAATGAAAGAGGGTCCTCTGTGCTTTAACATGGGGAAAGGGGGCCAGGTAGTGATGGGCCACACTCCCTCCCACTCCCTTTCCAAGCCTGTGACCCAACCTCAGATTCTCCTGCCCACTATCCCTCCATCCCTTCCCTCCCACGTGTTCAAAGACTCTCTCCCTGTTTACACCCTCTATGTCCAACAAGATACCTTTCTGGATATCCTGTAGCTGACCCAGCCTTTGGCCCTACCTCGTCTTTCTCTGCAACTCTATTATATATTCTATGGATTTAGGGATTCCATTTTACTGCACTTACTAGGTTAAAACAGGAATGGCAAAAACAGGACGCTGGCCAACACTCTCTGGCTATACACCCACCAACAAATAACCCTCATTTATCTCTGCACTCTTTTCCTGCTAAGCTGAGAAGCAGCCTCTGATTCCTTCTCAATATGGCACACCAGGATGGGATTGCCAGTCAACCGGGCTTGGTGCAAAGCTCTTTGCAAGCCCTGACTCTTAAGCCTTTTGAGGTCAAGCCCCTTCTCTGTCTCAAACATTTTTGACCAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCTCGTCTCTACTAAAAATCCAAAAAAAAATTAGCCAGGCATGGTGGCAGGCTCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGGCAGGAGAATGGCATGAAAGCAGGAGGCAGAGCTTGCAGTGAGCCGAGATTGCACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACGCCGTCTGAAAAAAAAAAAAAAATTTTCATAGGCCACCAGTTGCGGTGGCTCACACCTGTAATCCCAGCATTTGGGAGACTGAGGCGGGCAGATCACTTGAGCCCAAGAGTTCAAGACCAGTCTGGGCCACATAGTGAGACACCATCTCTACAAAAAAAATACAAAAAATTAACCAGCACCACGGTGCATGCCTGTACTCTCAGCTACTCAGGAGGCTGAGGTTGGAGGATCTCTGAGCCCAGGGAGACTGAGGCTGCAGTGAGCCATGATCACACCACTGCACTCCAGCCTGGGGGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAATCTTCATAGCCATTATTTTGTTTAACTGCCTCAAATGCAGCCCAATTTCATCTTCTTGCCCCCTAAATCTGCTGCCGCCCTCTGTGTCTCATGCTTAGAACTCCTGTAGCTGTTCAGTGGCAAGGGTGGGGGTGCTGAGGGGGCAGAGGTGAGGTTGATGATTTGGAGCCAAGTGATCAGGCTTCACTTCCAGCCCTGCCATGCCGTGTGTGACTTTGGCATATCATTTCCCCTCTCTGGGCTTCAGTTTCCCAACTGCAAAGAGGAAAATAACACCTGCCGAACCTCACAAGGCTTACAGTTCTTAAAAGGGTTCTGTAAACCATGGAGGGTTTTGAAGAAGTGGGTCATGGATAAGATTCCCACCTACTGGGCTCCAACCTGTGATGAAGCTGAAGAGGGACTGGATGTGGGCCCGATCCTTGAAGTAGGAGCGGCTGAGGCTGTTCCATATGACATCGGAGACCTTCTTCACCAGCTCACGGCTGGAGACACCCCCTTCTCGAGGATAGAGGGACAGGTCGACGGCGCCTCGGATCTGGGCGGTGAAGCGGGCATAGAGGGCGGCGATGATAGACAGGTCGGCCACGGGAAAGTAGGTGAGGCCGCCAGGCGGGTCGGGGGCGGGGCTGGGCTGGAAGGTGAGCTCGGGAACGTTGGTAGGGATGACGCGGTTGACAGCCAGAAAATGCTCCACGAAGCCCAGCACCAAGGAAAGGAGCACCAGGTCCGGCTCCTCTCGGCCCAGCTCGGCAGCAAACAGGCGCACCACGTCGTCGATGGAGCGCAGCGGGAACAGCGTCTTCTGGGCGGCCTTCAGCCCCATGGCGGCGGGCGGTGGGCGGCGGCCTGCAAGGCAAGCCGGGGGAGGGAGGGTCGGGCAGGTTCGGCCGGGGAGCCTCCTCCCAGGGTCCGCTAAGGTTCCACCCGCCCCGACACACGCACAGCTCCCCTGCTTCCCCACCCTCTTCAGCCTCTGCTCACCGGCTTCCCCTCTTTTGTCGGTGAGACCCCTCAGCCGAGACTGCAGAGCCTTTTTGTCCCCCACAATTCCGGGACGCCCGGTACCCGATGGGGTGCGCCCCAAGCACCCCAATGAGGAGCCCCAATGGCCGCCCCGCCCCCTCTCTACGACTGTGCCCCCGGGGCTGTAAAGTCTGTCCAGAAAGCGCACCCAGGTCAAGCCCCCAAACCCCAAGGAGAGTCCTGGCCTCGGTCCCCCTCGCCCACCTCCGCGCTTACATCCCACACTAGGCACCGCGGCGCACGCCGCCCGGAGCCTGCTGGGACATGAAGTCCCGCCCCTAGGGTCGCACTACCCGCCGGGAAGTGGAGTCTGGGCCCACCCCTGCCCCGCTGAGCCTGGAAATAGTGGCGGGCCGGGCCGCTGCGCTGTGGCTTCTGGGATCTCTAGGTCCGCGGCTCCGGACACCTCCTTCCCGAGATACTCAGGGATTGGCCCTTCCCTTCAGGCCGACCAGGCAGGAAGCGTGCCCGCAGTGCCTTCTGGAAAATGTAGTCCGGGGGCACTACCTGCAGACTCGGGGTGGGAGGTCGCCGAGCTTCTGCCGGTTTTGCTGTCACGGGTCGGTCGGCAAGTTATGAGGAAAAAGATCAGGTTGCTTGATCCAGAAAAAATTAAAATAAAACAATATGAGAAAAACAGATACTTTTAAACACTGCCAGAGAGTAAATGTGTTCAGCCGCTTTAGCTGGGTATCAGTGTCTGTTAACATATAAAGATGCCTACTCTGTGTGCAGCACTCGTTTCCCACTTCCGCCCGCGAGATACTCTAACACGTGCTAAGAGTAGCTTTTGTTTGTTTGTTTTGAGACACGGTCTTTCTCTTTCGCCCAGGCTGGAATGCAGTGGCTCGATCTGGGCTCACTGCAGCCTCGACTTCACGGGCTCAAGCGATTCTCGTGCCTCAGCCTCCCGAGTAGCTGTGATCACAGGCGTGCGCCACCACTCCCGCCTAATTTTGTGTGTATGTGCATATACATAAATATATATACATATAACACACACACACACACACACACACACACATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGCAGAGACAGGGATTCCCAGCTACTTGGGAGGCTGAGGCGCGGGGAATCCCTTGAACCTGGGAGGCGGAGGCTTCAGTGAGCCAGAATCTTGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGATTCCGTCTTAAAAAAAAGTCCCAAGTAGCTGGGATTATAGGCGTCCGCCACCACACCCAGAAAACTTTTTGTATTTTAAGTAGAGATGGGGTTTCACCATGTTGGCCAGACTGGTCTCGAACCCCTAACCTCAAGTGATCTGCCCGCCTCAGCCTCCCAAAGTGCTAAAATTACAGGCGTGAACCACCTTACCCGGCCAAAGAGTAGTTATTTGTTTATTTGTTTTGAGACAGAGTCTCGCTCTGTCACTCAGGCTGGAGTGCAGTGGGGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTTCTGCCTCAGCTTCCCAAGTAGCCGGGATTACAGGTGCCTGCCACCACACTTGGCTAATTTTTGTATTTTACTTAGTAGAGACAGGGGTGTCACCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCTCCTACCTCGGCCTCCAAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCTGGCCTGTATCAACAACGCTTTGAAACTTTGAAATAATACTAAATTTCCACGGTCACTCATTTATTTGCTTATTCATTCAAAAAAAACAGATTTTTGGTACTTACCATGGGCCAAGTTCCAGACACTCGG | CCCCAACCACAGCAAAGGCCACACCGGAGCTGTCCAATTTGGTGCCTGTGGAAGGGGGAGGTAATGAAAGAGGGTCCTCTGTGCTTTAACATGGGGAAAGGGGGCCAGGTAGTGATGGGCCACACTCCCTCCCACTCCCTTTCCAAGCCTGTGACCCAACCTCAGATTCTCCTGCCCACTATCCCTCCATCCCTTCCCTCCCACGTGTTCAAAGACTCTCTCCCTGTTTACACCCTCTATGTCCAACAAGATACCTTTCTGGATATCCTGTAGCTGACCCAGCCTTTGGCCCTACCTCGTCTTTCTCTGCAACTCTATTATATATTCTATGGATTTAGGGATTCCATTTTACTGCACTTACTAGGTTAAAACAGGAATGGCAAAAACAGGACGCTGGCCAACACTCTCTGGCTATACACCCACCAACAAATAACCCTCATTTATCTCTGCACTCTTTTCCTGCTAAGCTGAGAAGCAGCCTCTGATTCCTTCTCAATATGGCACACCAGGATGGGATTGCCAGTCAACCGGGCTTGGTGCAAAGCTCTTTGCAAGCCCTGACTCTTAAGCCTTTTGAGGTCAAGCCCCTTCTCTGTCTCAAACATTTTTGACCAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCTCGTCTCTACTAAAAATCCAAAAAAAAATTAGCCAGGCATGGTGGCAGGCTCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGGCAGGAGAATGGCATGAAAGCAGGAGGCAGAGCTTGCAGTGAGCCGAGATTGCACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACGCCGTCTGAAAAAAAAAAAAAAATTTTCATAGGCCACCAGTTGCGGTGGCTCACACCTGTAATCCCAGCATTTGGGAGACTGAGGCGGGCAGATCACTTGAGCCCAAGAGTTCAAGACCAGTCTGGGCCACATAGTGAGACACCATCTCTACAAAAAAAATACAAAAAATTAACCAGCACCACGGTGCATGCCTGTACTCTCAGCTACTCAGGAGGCTGAGGTTGGAGGATCTCTGAGCCCAGGGAGACTGAGGCTGCAGTGAGCCATGATCACACCACTGCACTCCAGCCTGGGGGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAATCTTCATAGCCATTATTTTGTTTAACTGCCTCAAATGCAGCCCAATTTCATCTTCTTGCCCCCTAAATCTGCTGCCGCCCTCTGTGTCTCATGCTTAGAACTCCTGTAGCTGTTCAGTGGCAAGGGTGGGGGTGCTGAGGGGGCAGAGGTGAGGTTGATGATTTGGAGCCAAGTGATCAGGCTTCACTTCCAGCCCTGCCATGCCGTGTGTGACTTTGGCATATCATTTCCCCTCTCTGGGCTTCAGTTTCCCAACTGCAAAGAGGAAAATAACACCTGCCGAACCTCACAAGGCTTACAGTTCTTAAAAGGGTTCTGTAAACCATGGAGGGTTTTGAAGAAGTGGGTCATGGATAAGATTCCCACCTACTGGGCTCCAACCTGTGATGAAGCTGAAGAGGGACTGGATGTGGGCCCGATCCTTGAAGTAGGAGCGGCTGAGGCTGTTCCATATGACATCGGAGACCTTCTTCACCAGCTCACGGCTGGAGACACCCCCTTCTCGAGGATAGAGGGACAGGTCGACGGCGCCTCGGATCTGGGCGGTGAAGCGGGCATAGAGGGCGGCGATGATAGACAGGTCGGCCACGGGAAAGTAGGTGAGGCCGCCAGGCGGGTCGGGGGCGGGGCTGGGCTGGAAGGTGAGCTCGGGAACGTTGGTAGGGATGACGCGGTTGACAGCCAGAAAATGCTCCACGAAGCCCAGCACCAAGGAAAGGAGCACCAGGTCCGGCTCCTCTCGGCCCAGCTCGGCAGCAAACAGGCGCACCACGTCGTCGATGGAGCGCAGCGGGAACAGCGTCTTCTGGGCGGCCTTCAGCCCATGGCGGCGGGCGGTGGGCGGCGGCCTGCAAGGCAAGCCGGGGGAGGGAGGGTCGGGCAGGTTCGGCCGGGGAGCCTCCTCCCAGGGTCCGCTAAGGTTCCACCCGCCCCGACACACGCACAGCTCCCCTGCTTCCCCACCCTCTTCAGCCTCTGCTCACCGGCTTCCCCTCTTTTGTCGGTGAGACCCCTCAGCCGAGACTGCAGAGCCTTTTTGTCCCCCACAATTCCGGGACGCCCGGTACCCGATGGGGTGCGCCCCAAGCACCCCAATGAGGAGCCCCAATGGCCGCCCCGCCCCCTCTCTACGACTGTGCCCCCGGGGCTGTAAAGTCTGTCCAGAAAGCGCACCCAGGTCAAGCCCCCAAACCCCAAGGAGAGTCCTGGCCTCGGTCCCCCTCGCCCACCTCCGCGCTTACATCCCACACTAGGCACCGCGGCGCACGCCGCCCGGAGCCTGCTGGGACATGAAGTCCCGCCCCTAGGGTCGCACTACCCGCCGGGAAGTGGAGTCTGGGCCCACCCCTGCCCCGCTGAGCCTGGAAATAGTGGCGGGCCGGGCCGCTGCGCTGTGGCTTCTGGGATCTCTAGGTCCGCGGCTCCGGACACCTCCTTCCCGAGATACTCAGGGATTGGCCCTTCCCTTCAGGCCGACCAGGCAGGAAGCGTGCCCGCAGTGCCTTCTGGAAAATGTAGTCCGGGGGCACTACCTGCAGACTCGGGGTGGGAGGTCGCCGAGCTTCTGCCGGTTTTGCTGTCACGGGTCGGTCGGCAAGTTATGAGGAAAAAGATCAGGTTGCTTGATCCAGAAAAAATTAAAATAAAACAATATGAGAAAAACAGATACTTTTAAACACTGCCAGAGAGTAAATGTGTTCAGCCGCTTTAGCTGGGTATCAGTGTCTGTTAACATATAAAGATGCCTACTCTGTGTGCAGCACTCGTTTCCCACTTCCGCCCGCGAGATACTCTAACACGTGCTAAGAGTAGCTTTTGTTTGTTTGTTTTGAGACACGGTCTTTCTCTTTCGCCCAGGCTGGAATGCAGTGGCTCGATCTGGGCTCACTGCAGCCTCGACTTCACGGGCTCAAGCGATTCTCGTGCCTCAGCCTCCCGAGTAGCTGTGATCACAGGCGTGCGCCACCACTCCCGCCTAATTTTGTGTGTATGTGCATATACATAAATATATATACATATAACACACACACACACACACACACACACACATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGCAGAGACAGGGATTCCCAGCTACTTGGGAGGCTGAGGCGCGGGGAATCCCTTGAACCTGGGAGGCGGAGGCTTCAGTGAGCCAGAATCTTGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGATTCCGTCTTAAAAAAAAGTCCCAAGTAGCTGGGATTATAGGCGTCCGCCACCACACCCAGAAAACTTTTTGTATTTTAAGTAGAGATGGGGTTTCACCATGTTGGCCAGACTGGTCTCGAACCCCTAACCTCAAGTGATCTGCCCGCCTCAGCCTCCCAAAGTGCTAAAATTACAGGCGTGAACCACCTTACCCGGCCAAAGAGTAGTTATTTGTTTATTTGTTTTGAGACAGAGTCTCGCTCTGTCACTCAGGCTGGAGTGCAGTGGGGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTTCTGCCTCAGCTTCCCAAGTAGCCGGGATTACAGGTGCCTGCCACCACACTTGGCTAATTTTTGTATTTTACTTAGTAGAGACAGGGGTGTCACCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCTCCTACCTCGGCCTCCAAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCTGGCCTGTATCAACAACGCTTTGAAACTTTGAAATAATACTAAATTTCCACGGTCACTCATTTATTTGCTTATTCATTCAAAAAAAACAGATTTTTGGTACTTACCATGGGCCAAGTTCCAGACACTCGGN | pathogenic | 178,148 |
Considering the variant on chromosome 11, location 65182883, involving gene CAPN1 (calpain 1), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic | GGCTGCGAGACCAGCGAAAAGCCCTGACTTGGGGGGGTCTCGGGAGTCTCTGCAGTCTCCCCACCCACACCCCCGGCCTCCGCGCCGAATCCTGGCCCCCCAACTTCTTGCAGCCCGTGAAGCAGGATCTCAGGGTCCTGGGGGTGGGGAGAGGGGGCTGCCGTCCTGCTCGCAGCCTCTGCCGCCCTCTCCTGGGTAAGGTGACACATGGGCGCTTCCAGGTGGGTGGGCTGAGAGCCTGGGGGAGAGAACAGGGATGTCCACCTCTCTAAGTTTCCAGGTTCAAGAAACCCCAGAACGTTAGAGAAAGATGGGCTCCCACAATTGCCCAACCCCATCCCATAGGATGCACGCATGCGGAAAGTCGGGCCGAACGGGGCAGGGACTTACCCAAGGTCACGCAGCGAGCCCGGTCCCCCTGCGTTCCCCGGGGAGCGCTGAGCCGGGACGCGGCGGTGGGGTGGGGAAGGGGAGTGGCGCGGCCCTGCGGGGTGAGGCTGCCGTTTGCTGAGTGTCCGGCAGGGGTCTGCTCGCTGCCAGCCCGGCCCCTCCTCAGAGCAGCTGCCGCAGCCCGAGGTAATCTCGGCCCCGCGCCGGGGCTGGCTGGGAACGGCGGGAGCAGCTGCGGTCGCGCGGAGCGAGGGGAGCTGGGGACCGGGCGGGCCCGGGGCTGCGGGAGGCGGCGCCGCCGCACAATCGCCCCGGAATGCCCGCCAGGGCGCGCGTGGGGTGCGGCCGTCCGGCCCTGCAACTCGAGCTGCTGCCCCTGGTTAAAAATACCCCCTGCCCGGCCCTCCCCCTCCGTTCCCCGCGGTGCCCTTCCGCCGCGCCCCAGCCCCCCCATCCCCCCCCGCGCTGGCCCCTCCCCGGGGACTGCTCTGCCTTTTACTAATTTGTCCTCTCGCGGAATTGGCCCCCGGCCTGCGGAGGGAGGGGCGGGGAGACACCGTGAGTAAGAGATAGTCAGAGACCGTGCCGGAGAGATAAGGGAGAGCCGAGAGGAAGCGGGGTAGGAGCCCCAGGAGGAGGAGGAGGAGAAGGAGAGAGGGAGGGCGGAGGGCGGAGGGGCGGCGGGAGGAGGGCGGGGAGGAGCGCTCTTCCTGGTTGGGCCCTGCCCTGAGCTGCCACCGGGAAGCCAGCCTCAGGGACTGCAGCGACCCCCAAACACCCCTCCCCCAGGTAAGAAGCTGGGTAGCCGAGCCGGGATTCCTTGACCCTGGCCACTGCTCCTGGGCTGAGGGGCTGCCCCAGCACGGTCCCTTCTCGGGGGCCTCTGCGTTCCTGGAGCAGGGGTGGGGGCTGGCGGAGCGGCACAGCCCAGGCGCCTGTCCCAGCCTGGCTCACCGCTGTCCCCAGGGGCTGGGCTAGGGCCCACCAGCTCTGATATCGAGCCTGCTGCGGGGGCCTGAGGAGGGGGACCCCGACCGTCTGGGGTTTTCAGCCCACGGCAAGGGGCCGGTGCACCAGGAGCTTGGTTAGTTTGGGGAGGGGGTTGCAGGCCTGTGAACAGGATCAAAGAGGCCTTCCCTGCTGTGTCCCACCTGCCCAGTTCCTTGTGCTGTCTGGAGGCTCCGCCCTGCCCCACCTGACCTGCTGGCTCACTACAGAGCTGCAAGCCCCTGACAATGGGATCCGGGAAAGGAGAGGTGGCCGGCACGCCTGGGAACTGGGAAATCCCTTTCCTGGATTCACTGGGAGCACCGGGAGGTGGCTGAGAACCCTACTTCTGTGAGGGGAGCAGTGAGGCAGGGAAACCCTAGGTTTGGGGATGGATAAGCAGGGGCAGGAGAGCAGAGCTTGCAGGCAGGAGCCCAGGTTCTAGTCTTGGGAAGGCCTGGGTTCTGAGCAGGCCCATCTGTCCGGCAGGATGTCGGAGGAGATCATCACGCCGGTGTACTGCACTGGGGTGTCAGCCCAAGTGCAGAAGCAGCGGGCCAGGGAGCTGGGCCTGGGCCGCCATGAGAATGCCATCAAGTACCTGGGCCAGGATTATGAGCAGCTGCGGGTGCGATGCCTGCAGAGTGGGACCCTCTTCCGTGATGAGGCCTTCCCCCCGGTACCCCAGAGCCTGGGTTACAAGGACCTGGGTCCCAATTCCTCCAAGACCTATGGCATCAAGTGGAAGCGTCCCACGGTGAGAGGGGCCATCCTGGGTGGGACTCGGCTAAGCCAGATCCTGGATGAGGAGTAGGGATGGGACTCCATGTCCCTGGTGGGGAATGGGGTCTGGGGTGGCCTGGTGCCAATTTCTGGGAGGGGCTGGCCGAGGAACAGGACTCTGGGTCTCTCGTAGGAACTGCTGTCAAACCCCCAGTTCATTGTGGATGGAGCTACCCGCACAGACATCTGCCAGGGAGCACTGGGTAGGCCCCCAGGGCGTCGGGTCCCGGGTATTTTTTCCACAGTAGTTCCCCATTCCCGCTCCTTCAGGCTCTGCCCCAACCCCTCCCTCTTGCAAGCCCAGGCAGGATCTGGCTATCAGCGCTGGGGCTGGTTTGCCCAGATTCCTGGGTCTTTTCTGCAAGCTGAGGGGAGTTAAGTGGCACCCTGGCCAAGGAACCCCAGATTCTCCCTAGCACCCGCTTCCCCCCCCGGGGCAGGTTGGTAGAGCAGGCTAATGTGCATCCCTCCTGCCCCAGGGGACTGCTGGCTCTTGGCGGCCATCGCCTCCCTCACTCTCAACGACACCCTCCTGCACCGAGTGGTTCCGCACGGCCAGAGCTTCCAGAATGGCTATGCCGGCATCTTCCATTTCCAGGTGAGGGCTCCCCTGGGGAGGAGGGGCAGCAGGCACTGGGGGAGATGCGGAAGGATGACCCACAATACCTGCAGTTAGGGCCACACCCTGTGGGGCCAGCCCTCCCTCTAGCAGGTATTTGACCTCTCAGTGCCATCTCGGGTCTGTCATGTGTGAAGTGACTGGGCTGGGCAGGTATTTCGGCTGGCAGTTTTCCTAGGTGGTTGTATGTATCAGGTGGAAAGTGCTTGAAAGAACAGAAAGACTTTTGTGTTATATCCTGTGGGACAAATTCCACTCCTCCCGGAGGTCGGTCTCAGTTGCCCCATCTGAGAAAGGAGTGTTCGCTGGGGAAAACAGATCAGCACGTGTGGCCTTCTCCACGTGTCAAGCCTCCTATCCCCCAACTCCTCCTGCGCTTTGGCAAGGTCTGACTGAGCCCAGCAGAAAAGAAAGACTCGGGATTAAGTCTACGTAAACCAGCTTTTCCTGACGGTGTGCCCAGGGCCCATTTTTCAAGTCACACCAATCAATTCTCAATGAGCTGCCTTTGGGAGGGACATGCCCAGCAACCCTGGATGAGACTCTCCAGCCTTGGAGGCCCCAGCCCTGCCCGAAGGACTCTTGGGTGTTCCCTCCTTCTGCCTGGTTAGAGAGCCCCTTACCCTACTCTGTCCTTGCCCGCCTTGCGCGGGTGGAGGTGGCCCTCGGAACCCAGGGTGCGGAACCCACAGTGCGGATCCACTTTGGCCCAGCGCCACACCCACCTGCTCCAGTCTGCAGGGGCGCAGTCTCGCCCCCTTCCCTCGCTCCTCCAATCCGCTCCTCCCTGGCCTCCGATTGGCCAGTTCAGTACCCGCCACCCACACTCTCCGCAACCTGGGCTCCTAGGGCCGCCTCCACCCCGCCCCGCCCCCCGTTGTCCTGGCCCCGACCCCTCAGATGGTACCTCGAGTCCTTGGTCGCTTCTGACCCCAGACGCCTTCGGCCCCGACCCTGCCCTGGGAAACGTGGCCTTTGTGGCATCTCAGAAACAAAGCCCGTGATTGTGAGAACCAGTCCTGCCCATCTTGTGGTTGTAGGATCTGGATGCCACATTTTCACTGCTCATCCAATGACACAGGTGCCCCTAACCCCCTTGAATAGGGAGGGAAGAGCCAGGGGGCCATGGCCTAAAAGGGGGCTAGTTCCGGAAAGCCCAGGCCCCAGAGCTTTTCCACCTCTCCGTGCCTGAGGAGGAACCCTGTTTGTTCAGTGACTCCCTAAAGGCTTTGCCTGTGCTCTTGTTTAAGTCTTCCGTGAAGAAGGCACCGCTGCTCCTTTTTATGGATAGGGAAACTGAGGCTCAGAGGCGATAAC | GGCTGCGAGACCAGCGAAAAGCCCTGACTTGGGGGGGTCTCGGGAGTCTCTGCAGTCTCCCCACCCACACCCCCGGCCTCCGCGCCGAATCCTGGCCCCCCAACTTCTTGCAGCCCGTGAAGCAGGATCTCAGGGTCCTGGGGGTGGGGAGAGGGGGCTGCCGTCCTGCTCGCAGCCTCTGCCGCCCTCTCCTGGGTAAGGTGACACATGGGCGCTTCCAGGTGGGTGGGCTGAGAGCCTGGGGGAGAGAACAGGGATGTCCACCTCTCTAAGTTTCCAGGTTCAAGAAACCCCAGAACGTTAGAGAAAGATGGGCTCCCACAATTGCCCAACCCCATCCCATAGGATGCACGCATGCGGAAAGTCGGGCCGAACGGGGCAGGGACTTACCCAAGGTCACGCAGCGAGCCCGGTCCCCCTGCGTTCCCCGGGGAGCGCTGAGCCGGGACGCGGCGGTGGGGTGGGGAAGGGGAGTGGCGCGGCCCTGCGGGGTGAGGCTGCCGTTTGCTGAGTGTCCGGCAGGGGTCTGCTCGCTGCCAGCCCGGCCCCTCCTCAGAGCAGCTGCCGCAGCCCGAGGTAATCTCGGCCCCGCGCCGGGGCTGGCTGGGAACGGCGGGAGCAGCTGCGGTCGCGCGGAGCGAGGGGAGCTGGGGACCGGGCGGGCCCGGGGCTGCGGGAGGCGGCGCCGCCGCACAATCGCCCCGGAATGCCCGCCAGGGCGCGCGTGGGGTGCGGCCGTCCGGCCCTGCAACTCGAGCTGCTGCCCCTGGTTAAAAATACCCCCTGCCCGGCCCTCCCCCTCCGTTCCCCGCGGTGCCCTTCCGCCGCGCCCCAGCCCCCCCATCCCCCCCCGCGCTGGCCCCTCCCCGGGGACTGCTCTGCCTTTTACTAATTTGTCCTCTCGCGGAATTGGCCCCCGGCCTGCGGAGGGAGGGGCGGGGAGACACCGTGAGTAAGAGATAGTCAGAGACCGTGCCGGAGAGATAAGGGAGAGCCGAGAGGAAGCGGGGTAGGAGCCCCAGGAGGAGGAGGAGGAGAAGGAGAGAGGGAGGGCGGAGGGCGGAGGGGCGGCGGGAGGAGGGCGGGGAGGAGCGCTCTTCCTGGTTGGGCCCTGCCCTGAGCTGCCACCGGGAAGCCAGCCTCAGGGACTGCAGCGACCCCCAAACACCCCTCCCCCAGGTAAGAAGCTGGGTAGCCGAGCCGGGATTCCTTGACCCTGGCCACTGCTCCTGGGCTGAGGGGCTGCCCCAGCACGGTCCCTTCTCGGGGGCCTCTGCGTTCCTGGAGCAGGGGTGGGGGCTGGCGGAGCGGCACAGCCCAGGCGCCTGTCCCAGCCTGGCTCACCGCTGTCCCCAGGGGCTGGGCTAGGGCCCACCAGCTCTGATATCGAGCCTGCTGCGGGGGCCTGAGGAGGGGGACCCCGACCGTCTGGGGTTTTCAGCCCACGGCAAGGGGCCGGTGCACCAGGAGCTTGGTTAGTTTGGGGAGGGGGTTGCAGGCCTGTGAACAGGATCAAAGAGGCCTTCCCTGCTGTGTCCCACCTGCCCAGTTCCTTGTGCTGTCTGGAGGCTCCGCCCTGCCCCACCTGACCTGCTGGCTCACTACAGAGCTGCAAGCCCCTGACAATGGGATCCGGGAAAGGAGAGGTGGCCGGCACGCCTGGGAACTGGGAAATCCCTTTCCTGGATTCACTGGGAGCACCGGGAGGTGGCTGAGAACCCTACTTCTGTGAGGGGAGCAGTGAGGCAGGGAAACCCTAGGTTTGGGGATGGATAAGCAGGGGCAGGAGAGCAGAGCTTGCAGGCAGGAGCCCAGGTTCTAGTCTTGGGAAGGCCTGGGTTCTGAGCAGGCCCATCTGTCCGGCAGGATGTCGGAGGAGATCATCACGCCGGTGTACTGCACTGGGGTGTCAGCCCAAGTGCAGAAGCAGCGGGCCAGGGAGCTGGGCCTGGGCCGCCATGAGAATGCCATCAAGTACCTGGGCCAGGATTATGAGCAGCTGCGGGTGCGATGCCTGCAGAGTGGGACCCTCTTCCGTGATGAGGCCTTCCCCCCCGGTACCCCAGAGCCTGGGTTACAAGGACCTGGGTCCCAATTCCTCCAAGACCTATGGCATCAAGTGGAAGCGTCCCACGGTGAGAGGGGCCATCCTGGGTGGGACTCGGCTAAGCCAGATCCTGGATGAGGAGTAGGGATGGGACTCCATGTCCCTGGTGGGGAATGGGGTCTGGGGTGGCCTGGTGCCAATTTCTGGGAGGGGCTGGCCGAGGAACAGGACTCTGGGTCTCTCGTAGGAACTGCTGTCAAACCCCCAGTTCATTGTGGATGGAGCTACCCGCACAGACATCTGCCAGGGAGCACTGGGTAGGCCCCCAGGGCGTCGGGTCCCGGGTATTTTTTCCACAGTAGTTCCCCATTCCCGCTCCTTCAGGCTCTGCCCCAACCCCTCCCTCTTGCAAGCCCAGGCAGGATCTGGCTATCAGCGCTGGGGCTGGTTTGCCCAGATTCCTGGGTCTTTTCTGCAAGCTGAGGGGAGTTAAGTGGCACCCTGGCCAAGGAACCCCAGATTCTCCCTAGCACCCGCTTCCCCCCCCGGGGCAGGTTGGTAGAGCAGGCTAATGTGCATCCCTCCTGCCCCAGGGGACTGCTGGCTCTTGGCGGCCATCGCCTCCCTCACTCTCAACGACACCCTCCTGCACCGAGTGGTTCCGCACGGCCAGAGCTTCCAGAATGGCTATGCCGGCATCTTCCATTTCCAGGTGAGGGCTCCCCTGGGGAGGAGGGGCAGCAGGCACTGGGGGAGATGCGGAAGGATGACCCACAATACCTGCAGTTAGGGCCACACCCTGTGGGGCCAGCCCTCCCTCTAGCAGGTATTTGACCTCTCAGTGCCATCTCGGGTCTGTCATGTGTGAAGTGACTGGGCTGGGCAGGTATTTCGGCTGGCAGTTTTCCTAGGTGGTTGTATGTATCAGGTGGAAAGTGCTTGAAAGAACAGAAAGACTTTTGTGTTATATCCTGTGGGACAAATTCCACTCCTCCCGGAGGTCGGTCTCAGTTGCCCCATCTGAGAAAGGAGTGTTCGCTGGGGAAAACAGATCAGCACGTGTGGCCTTCTCCACGTGTCAAGCCTCCTATCCCCCAACTCCTCCTGCGCTTTGGCAAGGTCTGACTGAGCCCAGCAGAAAAGAAAGACTCGGGATTAAGTCTACGTAAACCAGCTTTTCCTGACGGTGTGCCCAGGGCCCATTTTTCAAGTCACACCAATCAATTCTCAATGAGCTGCCTTTGGGAGGGACATGCCCAGCAACCCTGGATGAGACTCTCCAGCCTTGGAGGCCCCAGCCCTGCCCGAAGGACTCTTGGGTGTTCCCTCCTTCTGCCTGGTTAGAGAGCCCCTTACCCTACTCTGTCCTTGCCCGCCTTGCGCGGGTGGAGGTGGCCCTCGGAACCCAGGGTGCGGAACCCACAGTGCGGATCCACTTTGGCCCAGCGCCACACCCACCTGCTCCAGTCTGCAGGGGCGCAGTCTCGCCCCCTTCCCTCGCTCCTCCAATCCGCTCCTCCCTGGCCTCCGATTGGCCAGTTCAGTACCCGCCACCCACACTCTCCGCAACCTGGGCTCCTAGGGCCGCCTCCACCCCGCCCCGCCCCCCGTTGTCCTGGCCCCGACCCCTCAGATGGTACCTCGAGTCCTTGGTCGCTTCTGACCCCAGACGCCTTCGGCCCCGACCCTGCCCTGGGAAACGTGGCCTTTGTGGCATCTCAGAAACAAAGCCCGTGATTGTGAGAACCAGTCCTGCCCATCTTGTGGTTGTAGGATCTGGATGCCACATTTTCACTGCTCATCCAATGACACAGGTGCCCCTAACCCCCTTGAATAGGGAGGGAAGAGCCAGGGGGCCATGGCCTAAAAGGGGGCTAGTTCCGGAAAGCCCAGGCCCCAGAGCTTTTCCACCTCTCCGTGCCTGAGGAGGAACCCTGTTTGTTCAGTGACTCCCTAAAGGCTTTGCCTGTGCTCTTGTTTAAGTCTTCCGTGAAGAAGGCACCGCTGCTCCTTTTTATGGATAGGGAAACTGAGGCTCAGAGGCGATAA | pathogenic | 178,199 |
Assess the variant on chromosome 11, position 65537009, impacting SCYL1 (SCY1 like pseudokinase 1): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Acute_infantile_liver_failure-cerebellar_ataxia-peripheral_sensory_motor_neuropathy_syndrome'] | GTGAGTCTAGGTGGAGTGCCATCAGGAGAGCAGAGCAGAGGAAATGGGAAACAGGAGTGCAGACAGACTTTGGAGGTTTTGCTGTAAAGGGGGACAGAAATGGGGTCCCTTTCTTCAACATGCTGGACAGGGCCAGGCCCAGGCTGGGAGGTGGCCTTGCAGGCTTTGATGGGTGTGCTCTGGGATGAGGGCTGCCAGGAGGCTGTTCCTGCACAAGGCCCTTTGCCCGCCACAGCCCACAGTTCCCACTCATTTCTGCCCCACAGTCCATGCTGCTCCTGGCCCCAAAGCTGAACGAGGCCAACCTCAATGTGGAGCTGATGAAGCACTTTGCACGGCTACAGGCCAAGGATGAACAGGGCCCCATCCGCTGCAACACCACAGTCTGCCTGGGCAAAATCGGCTCCTACCTCAGTGCTAGCGTGAGTGTCCTGCACAACTGCTGGAGCCCGGTCCCTGTCGCAGGACCACAGCCTCCTCCAGGGCCAGGAGTCTTGTGTGTGGGGGCCTTCATTCTCCCAGAGACTTAGACCCTGCACGCTGTTGGCCCCATATCTGGGTTCCCAGAGGAGGAGTGAGTTGGCCGAAGTCACACAGTCAGGAGGGATCTGGGATCTGAATCCAGGCGTGCTTGGCCCCATGGCCTGTGTGCATCCCTTCAGCCAGGGTTTGTAAGTTCAGTTGCTTGCCGTGCCCAGACAGTTAACAGGAATGAACGGTCAGCTGGGCAGGGAGGAAGGGAGCCTGTGTCCGAGCCCTGGGGACAGCTGCTGTTGTGGTCCCATGCCCTGAGGCAGTGTGGAACCCAGTGATTTGGGAAGAGAAGCCCAGGTCCAGAGTTTTAGGTCAACTCTCCCCATTTAAGTGATTCATTCATATTTTTCAGATTCTGGGGACCTATGGGTGGTCCCATTCTGGGAAGTAAGGGCTGGTGGTTCTGGGTCCCAACATTGACCCTACACTCAGGAGCCCTCTTTCCTGCCCCATCGTAGACCAGACACAGGGTCCTTACCTCTGCCTTCAGCCGAGCCACTAGGGACCCGTTTGCACCGTCCCGGGTTGCGGGTGTCCTGGGCTTTGCTGCCACCCACAACCTCTACTCAATGAACGACTGTGCCCAGAAGATCCTGCCTGTGCTCTGCGGTCTCACTGTAGATCCTGAGAAATCCGTGCGAGACCAGGTGAGGCACAGCTGGGCCTGGGCCCTGGGCTGGGGCTGTAGGGGATGTCAGCCCCTAGCTGGCCTGGTAGGTTCTTGGGAACCCCAGAGACCCCAGCTCTGCCTCGTTACCCCACAGGCCTTCAAGGCCATTCGGAGCTTCCTGTCCAAATTGGAGTCTGTGTCGGAGGACCCGACCCAGCTGGAGGAAGTGGGTGAGTGGCTTACACTCGTGTTCCCTCTTTCCCTGCCATGTCCTTGACTGTGACCTGTTTGTGTCCCACCCCCACTGGAGTTTCTGAAAGGTCCTAGTGAGCAGACTTGACTCAGCTCCCCCTTCACAGATGGGAGAAATCAGGCCTGGAGAAAGGAGGGGTGGCTGCAGGGCACTGTCAGTTCCTGCTGTCCTGTCACCCATGGGTGCCTGACGTGCCCATACCCACCTCTCTCTCATGCCACTGCCCAGAGAAGGATGTCCATGCAGCCTCCAGCCCTGGCATGGGAGGAGCCGCAGCTAGCTGGGCAGGCTGGGCCGTGACCGGGGTCTCCTCACTCACCTCCAAGCTGATCCGTTCGCACCCAACCACTGCCCCAACAGAAACCAACATTCCCCAAAGACCCACGCCTGAAGGTGAGTGTCCTGGCCTAGCTGCATCAGTGGCTGAGAGGGCTGAGAGCTGCAGGCACCCAGGAACTCTTACTGTCTGACTCCCCCGGGGATGGTGAAGGGGATATAGGAGCTGGGTAGGCTCCAGTCACCCTGTGGGCTTCCTTGGTGCCCCTTCCCCCCAGTAGCCCCCTTCCCCTAGCAGCCTCTGCCCTGTCCCAAGACCCCCCTGAAAGCTCAGTGAGCCTCTGCTCCCCAGGAGTTCCTGCCCCAGCCCCCACCCCTGTTCCTGCCACCCCTACAACCTCAGGCCACTGGGAGACGCAGGAGGAGGACAAGGACACAGCAGAGGACAGCAGCACTGCTGACAGATGGGACGACGAAGACTGGGGCAGCCTGGAGGTGTGTGGGGCTGAGGGAGCCTCCCCAGGGGACCCCAGCTCAAATCCACAGGCTGCCATTCAGGGAGCTTCTGTGGGGCCTGGCTGGAGTTGGCCTGTCCTCATCAGCACAGCATCCCTGGCACGTAGGCCTCATGGAGTGGCCATTGTAGGCCAGAGCCAGCAGCAGGCCCCATTCAACCCCAGCGGCCCCAGGGAGCAGGCTAGGCAGATGGTGCCTGGGGCATTCCCTGAACTTCCTCACTCTTACCCACACCGTCCCCCTTTCCCCTCCTCCAGTGCCCACCCAGCCATGGGGGTCAGCAAGGAGAGGCCACTCCTGGGTCTAGAACCAGACCAGTTCTGCTTGGGGGATGGGCTCAGGTTGGGCTGAGGGAGGACTGGGGCTGTCCTCAGAATGGGGCAGAGCTGGGGGCCCAATTTCCCCATCTGGCTGACAGCAGCAGTTTCTGGCCCTCAAGGCTGTTGGAAGGGGCATCTAGATCTCATTCCCCAGCCTTAAAGAGGGGTGAGGGCAGGCCAGGGTCAGCGTCCATTTAATAGATGGGAAACAGGGCCTGAGGAGCAAATGAGGAGGAAGGCAAAAGACAGTGGTGGGGCCCGTGGCTGGGATGATGCTGGGGCGGGCTCACTTGCCCTTTAGCATGGGGTGGGAGTCAGTGGTCCCTTCCCACACTGCAGCAGGAGGCCGAGTCTGTGCTGGCCCAGCAGGACGACTGGAGCACCGGGGGCCAAGTGAGCCGTGCTAGTCAGGTGAGCTGGGTCTGGTGGGGAGGTGTGTGTATGGGGCTCTTTCCTCCTTGGGCCCAGGGCTACTTCCCCCTCCCGCTCTTCTACAGGTCAGCAACTCCGACCACAAATCCTCCAAATCCCCAGAGTCCGACTGGAGCAGCTGGGAAGCTGAGGGCTCCTGGGAACAGGGCTGGCAGGAGCCAAGCTCCCAGGAGCCACCTCCTGACGGTACACGGCTGGCCAGCGAGTATAACTGGGGTGGCCCAGAGTCCAGCGACAAGGGCGACCCCTTCGCTACCCTGTCTGCACGTCCCAGCACCCAGGTACCCAGCACAGGTCTGGCGAGAGGGTAGAGATGGTGGACCTCAGCCAGAAGTGGGCCCCACTGCAGCCCACACTTCTCTTTACAGCCGAGGCCAGACTCTTGGGGTGAGGACAACTGGGAGGGCCTCGAGACTGACAGTCGTAAGTGCTTCCCCTGGGTGGGCTGAAGACTAGGGCTCCCCGACTAGCCCGCCCCTACAGGCCCCCGGCAGGCACTGGCTGGAGAGCTGAGACCGGGGCTCCCCTTCCTGACGCCAGGACAGGTCAAGGCTGAGCTGGCCCGGAAGAAGCGCGAGGAGCGGCGGCGGGAGATGGAGGCCAAACGCGCCGAGAGGAAGGTGGCCAAGGGCCCCATGAAGCTGGGAGCCCGGAAGCTGGACTGAACCGTGGCGGTGGCCCTTCCCGGCTGCGGAGAGCCCGCCCCACAGATGTATTTATTGTACAAACCATGTGAGCCCGGCCGGCCCAGCCAGGCCATCTCACGTGTACATAATCAGAGCCACAATAAATTCTATTTCACACCCCTTGTGCCGGGCTCAGTCTAGCCCCTGGGAGGCGGCTGGGGTCTGGCGCCGCCCTGCGCAGCCCGCGCCCACGTCAGACGTGAACATCAATTTGCTTCGAAAGCCAAGGGTAAAGAGGCACGATCTGATTTATCAGTTTCTAGGAAACACCCTCTGGGAGGAAGGCAGGCAGCGCCCGCCGGAGACCTTACAACCGCCCGCTAACCGGGGAGGGGGGCCGGTAGGGGCGCCTCGGGTCTCAAGGCGCCGGGAGGGTCTGCGGGCCCTGAAGGTCCCTGGGTCCGAGCCACAAGTCGGGGCAGAAGTGAGGCCGAGCTCGCGGAAATCCCTCAGTGATCACCGAGGTCTG | GTGAGTCTAGGTGGAGTGCCATCAGGAGAGCAGAGCAGAGGAAATGGGAAACAGGAGTGCAGACAGACTTTGGAGGTTTTGCTGTAAAGGGGGACAGAAATGGGGTCCCTTTCTTCAACATGCTGGACAGGGCCAGGCCCAGGCTGGGAGGTGGCCTTGCAGGCTTTGATGGGTGTGCTCTGGGATGAGGGCTGCCAGGAGGCTGTTCCTGCACAAGGCCCTTTGCCCGCCACAGCCCACAGTTCCCACTCATTTCTGCCCCACAGTCCATGCTGCTCCTGGCCCCAAAGCTGAACGAGGCCAACCTCAATGTGGAGCTGATGAAGCACTTTGCACGGCTACAGGCCAAGGATGAACAGGGCCCCATCCGCTGCAACACCACAGTCTGCCTGGGCAAAATCGGCTCCTACCTCAGTGCTAGCGTGAGTGTCCTGCACAACTGCTGGAGCCCGGTCCCTGTCGCAGGACCACAGCCTCCTCCAGGGCCAGGAGTCTTGTGTGTGGGGGCCTTCATTCTCCCAGAGACTTAGACCCTGCACGCTGTTGGCCCCATATCTGGGTTCCCAGAGGAGGAGTGAGTTGGCCGAAGTCACACAGTCAGGAGGGATCTGGGATCTGAATCCAGGCGTGCTTGGCCCCATGGCCTGTGTGCATCCCTTCAGCCAGGGTTTGTAAGTTCAGTTGCTTGCCGTGCCCAGACAGTTAACAGGAATGAACGGTCAGCTGGGCAGGGAGGAAGGGAGCCTGTGTCCGAGCCCTGGGGACAGCTGCTGTTGTGGTCCCATGCCCTGAGGCAGTGTGGAACCCAGTGATTTGGGAAGAGAAGCCCAGGTCCAGAGTTTTAGGTCAACTCTCCCCATTTAAGTGATTCATTCATATTTTTCAGATTCTGGGGACCTATGGGTGGTCCCATTCTGGGAAGTAAGGGCTGGTGGTTCTGGGTCCCAACATTGACCCTACACTCAGGAGCCCTCTTTCCTGCCCCATCGTAGACCAGACACAGGGTCCTTACCTCTGCCTTCAGCCGAGCCACTAGGGACCCGTTTGCACCGTCCCGGGTTGCGGGTGTCCTGGGCTTTGCTGCCACCCACAACCTCTACTCAATGAACGACTGTGCCCAGAAGATCCTGCCTGTGCTCTGCGGTCTCACTGTAGATCCTGAGAAATCCGTGCGAGACCAGGTGAGGCACAGCTGGGCCTGGGCCCTGGGCTGGGGCTGTAGGGGATGTCAGCCCCTAGCTGGCCTGGTAGGTTCTTGGGAACCCCAGAGACCCCAGCTCTGCCTCGTTACCCCACAGGCCTTCAAGGCCATTCGGAGCTTCCTGTCCAAATTGGAGTCTGTGTCGGAGGACCCGACCCAGCTGGAGGAAGTGGGTGAGTGGCTTACACTCGTGTTCCCTCTTTCCCTGCCATGTCCTTGACTGTGACCTGTTTGTGTCCCACCCCCACTGGAGTTTCTGAAAGGTCCTAGTGAGCAGACTTGACTCAGCTCCCCCTTCACAGATGGGAGAAATCAGGCCTGGAGAAAGGAGGGGTGGCTGCAGGGCACTGTCAGTTCCTGCTGTCCTGTCACCCATGGGTGCCTGACGTGCCCATACCCACCTCTCTCTCATGCCACTGCCCAGAGAAGGATGTCCATGCAGCCTCCAGCCCTGGCATGGGAGGAGCCGCAGCTAGCTGGGCAGGCTGGGCCGTGACCGGGGTCTCCTCACTCACCTCCAAGCTGATCCGTTCGCACCCAACCACTGCCCCAACAGAAACCAACATTCCCCAAAGACCCACGCCTGAAGGTGAGTGTCCTGGCCTAGCTGCATCAGTGGCTGAGAGGGCTGAGAGCTGCAGGCACCCAGGAACTCTTACTGTCTGACTCCCCCGGGGATGGTGAAGGGGATATAGGAGCTGGGTAGGCTCCAGTCACCCTGTGGGCTTCCTTGGTGCCCCTTCCCCCCAGTAGCCCCCTTCCCCTAGCAGCCTCTGCCCTGTCCCAAGACCCCCCTGAAAGCTCAGTGAGCCTCTGCTCCCCAGGAGTTCCTGCCCCAGCCCCCACCCGTTCCTGCCACCCCTACAACCTCAGGCCACTGGGAGACGCAGGAGGAGGACAAGGACACAGCAGAGGACAGCAGCACTGCTGACAGATGGGACGACGAAGACTGGGGCAGCCTGGAGGTGTGTGGGGCTGAGGGAGCCTCCCCAGGGGACCCCAGCTCAAATCCACAGGCTGCCATTCAGGGAGCTTCTGTGGGGCCTGGCTGGAGTTGGCCTGTCCTCATCAGCACAGCATCCCTGGCACGTAGGCCTCATGGAGTGGCCATTGTAGGCCAGAGCCAGCAGCAGGCCCCATTCAACCCCAGCGGCCCCAGGGAGCAGGCTAGGCAGATGGTGCCTGGGGCATTCCCTGAACTTCCTCACTCTTACCCACACCGTCCCCCTTTCCCCTCCTCCAGTGCCCACCCAGCCATGGGGGTCAGCAAGGAGAGGCCACTCCTGGGTCTAGAACCAGACCAGTTCTGCTTGGGGGATGGGCTCAGGTTGGGCTGAGGGAGGACTGGGGCTGTCCTCAGAATGGGGCAGAGCTGGGGGCCCAATTTCCCCATCTGGCTGACAGCAGCAGTTTCTGGCCCTCAAGGCTGTTGGAAGGGGCATCTAGATCTCATTCCCCAGCCTTAAAGAGGGGTGAGGGCAGGCCAGGGTCAGCGTCCATTTAATAGATGGGAAACAGGGCCTGAGGAGCAAATGAGGAGGAAGGCAAAAGACAGTGGTGGGGCCCGTGGCTGGGATGATGCTGGGGCGGGCTCACTTGCCCTTTAGCATGGGGTGGGAGTCAGTGGTCCCTTCCCACACTGCAGCAGGAGGCCGAGTCTGTGCTGGCCCAGCAGGACGACTGGAGCACCGGGGGCCAAGTGAGCCGTGCTAGTCAGGTGAGCTGGGTCTGGTGGGGAGGTGTGTGTATGGGGCTCTTTCCTCCTTGGGCCCAGGGCTACTTCCCCCTCCCGCTCTTCTACAGGTCAGCAACTCCGACCACAAATCCTCCAAATCCCCAGAGTCCGACTGGAGCAGCTGGGAAGCTGAGGGCTCCTGGGAACAGGGCTGGCAGGAGCCAAGCTCCCAGGAGCCACCTCCTGACGGTACACGGCTGGCCAGCGAGTATAACTGGGGTGGCCCAGAGTCCAGCGACAAGGGCGACCCCTTCGCTACCCTGTCTGCACGTCCCAGCACCCAGGTACCCAGCACAGGTCTGGCGAGAGGGTAGAGATGGTGGACCTCAGCCAGAAGTGGGCCCCACTGCAGCCCACACTTCTCTTTACAGCCGAGGCCAGACTCTTGGGGTGAGGACAACTGGGAGGGCCTCGAGACTGACAGTCGTAAGTGCTTCCCCTGGGTGGGCTGAAGACTAGGGCTCCCCGACTAGCCCGCCCCTACAGGCCCCCGGCAGGCACTGGCTGGAGAGCTGAGACCGGGGCTCCCCTTCCTGACGCCAGGACAGGTCAAGGCTGAGCTGGCCCGGAAGAAGCGCGAGGAGCGGCGGCGGGAGATGGAGGCCAAACGCGCCGAGAGGAAGGTGGCCAAGGGCCCCATGAAGCTGGGAGCCCGGAAGCTGGACTGAACCGTGGCGGTGGCCCTTCCCGGCTGCGGAGAGCCCGCCCCACAGATGTATTTATTGTACAAACCATGTGAGCCCGGCCGGCCCAGCCAGGCCATCTCACGTGTACATAATCAGAGCCACAATAAATTCTATTTCACACCCCTTGTGCCGGGCTCAGTCTAGCCCCTGGGAGGCGGCTGGGGTCTGGCGCCGCCCTGCGCAGCCCGCGCCCACGTCAGACGTGAACATCAATTTGCTTCGAAAGCCAAGGGTAAAGAGGCACGATCTGATTTATCAGTTTCTAGGAAACACCCTCTGGGAGGAAGGCAGGCAGCGCCCGCCGGAGACCTTACAACCGCCCGCTAACCGGGGAGGGGGGCCGGTAGGGGCGCCTCGGGTCTCAAGGCGCCGGGAGGGTCTGCGGGCCCTGAAGGTCCCTGGGTCCGAGCCACAAGTCGGGGCAGAAGTGAGGCCGAGCTCGCGGAAATCCCTCAGTGATCACCGAGGTCTGNN | pathogenic | 178,272 |
Gene LTBP3 (latent transforming growth factor beta binding protein 3) variant at chromosome position 65539552 on chromosome 11: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Brachyolmia-amelogenesis_imperfecta_syndrome', 'LTBP3-related_disorder'] | AGGACTGGGGCTGTCCTCAGAATGGGGCAGAGCTGGGGGCCCAATTTCCCCATCTGGCTGACAGCAGCAGTTTCTGGCCCTCAAGGCTGTTGGAAGGGGCATCTAGATCTCATTCCCCAGCCTTAAAGAGGGGTGAGGGCAGGCCAGGGTCAGCGTCCATTTAATAGATGGGAAACAGGGCCTGAGGAGCAAATGAGGAGGAAGGCAAAAGACAGTGGTGGGGCCCGTGGCTGGGATGATGCTGGGGCGGGCTCACTTGCCCTTTAGCATGGGGTGGGAGTCAGTGGTCCCTTCCCACACTGCAGCAGGAGGCCGAGTCTGTGCTGGCCCAGCAGGACGACTGGAGCACCGGGGGCCAAGTGAGCCGTGCTAGTCAGGTGAGCTGGGTCTGGTGGGGAGGTGTGTGTATGGGGCTCTTTCCTCCTTGGGCCCAGGGCTACTTCCCCCTCCCGCTCTTCTACAGGTCAGCAACTCCGACCACAAATCCTCCAAATCCCCAGAGTCCGACTGGAGCAGCTGGGAAGCTGAGGGCTCCTGGGAACAGGGCTGGCAGGAGCCAAGCTCCCAGGAGCCACCTCCTGACGGTACACGGCTGGCCAGCGAGTATAACTGGGGTGGCCCAGAGTCCAGCGACAAGGGCGACCCCTTCGCTACCCTGTCTGCACGTCCCAGCACCCAGGTACCCAGCACAGGTCTGGCGAGAGGGTAGAGATGGTGGACCTCAGCCAGAAGTGGGCCCCACTGCAGCCCACACTTCTCTTTACAGCCGAGGCCAGACTCTTGGGGTGAGGACAACTGGGAGGGCCTCGAGACTGACAGTCGTAAGTGCTTCCCCTGGGTGGGCTGAAGACTAGGGCTCCCCGACTAGCCCGCCCCTACAGGCCCCCGGCAGGCACTGGCTGGAGAGCTGAGACCGGGGCTCCCCTTCCTGACGCCAGGACAGGTCAAGGCTGAGCTGGCCCGGAAGAAGCGCGAGGAGCGGCGGCGGGAGATGGAGGCCAAACGCGCCGAGAGGAAGGTGGCCAAGGGCCCCATGAAGCTGGGAGCCCGGAAGCTGGACTGAACCGTGGCGGTGGCCCTTCCCGGCTGCGGAGAGCCCGCCCCACAGATGTATTTATTGTACAAACCATGTGAGCCCGGCCGGCCCAGCCAGGCCATCTCACGTGTACATAATCAGAGCCACAATAAATTCTATTTCACACCCCTTGTGCCGGGCTCAGTCTAGCCCCTGGGAGGCGGCTGGGGTCTGGCGCCGCCCTGCGCAGCCCGCGCCCACGTCAGACGTGAACATCAATTTGCTTCGAAAGCCAAGGGTAAAGAGGCACGATCTGATTTATCAGTTTCTAGGAAACACCCTCTGGGAGGAAGGCAGGCAGCGCCCGCCGGAGACCTTACAACCGCCCGCTAACCGGGGAGGGGGGCCGGTAGGGGCGCCTCGGGTCTCAAGGCGCCGGGAGGGTCTGCGGGCCCTGAAGGTCCCTGGGTCCGAGCCACAAGTCGGGGCAGAAGTGAGGCCGAGCTCGCGGAAATCCCTCAGTGATCACCGAGGTCTGGGCCGAGGGCGGCGTCGGCGGCGTCAGCGGCGGCGCTGGGGAACGCAGGCCCCGTGCGGGCGGCTGCGCGCGAAGCCGGCTTTGCAGACGCAGCGGAAGGAGCCGCTGGTGTTCACGCAGCGCTCGCTCTTGCACAGCAGCCCGCGCTGGTTCAGCTCTCGGCACTCGTCGATATCTGAAGGTGAGGGCGACAGGTGCGGCTTCGCTGAGCCTCCAGGCGGCTCCTCACCACCGGCCCCGCCCCTGCCCCCACCCCCGAAGCCCGGCTCACCCACGCAGCGGGCGCGGGAGGCGTCGAGCTGGAAGCCGCCGGGACACTCGCACACGGCGCCGCCCGGCCGCGGCACGCAGCGGCCACTCACGCAGCGACACTCGTCTGAATCCTCCTCTGAACTGTCCTCATCTGCGTGGCCCGGAACAATATGGACTTCAACACTGAGCCCCGGCCAAAGGCTACCAACCCCGCCACCGCCCGACCCGGCAGCACTCACCTCTTGGGGGCTTCCCCAACAGCAGGGGGCTTGTGTCCCAGAAGGAATTGCTCTCGCTCTGCGATGTCGGGCAATGGGACCCTGGGAGGAGCAGAACTGGTCAGCGACGTCCGGGTCCCCGGGCCCTGGCCCCCATCCTCGCTCCCGGCCAACTCCTCCCCGACTGCCTTACCCGCGCCGCGCGGCGGGCACGGTCGGCATTGGGCGCCCCAGCCGCGGCCCTGGCGGCAGCAGCAGTCGTCGAAGGTGAGGGCAGGCCCGGCCAGGGGGCCAGCGCACATGCCGTCCTCTCCGCGCTGGCTCCAGCACACGTCGCGCCGCTCCGGGGCACGCTCTGCGGAAGACACCTGGCATCAGGGGAGGGGCCCAAGGCAGGAACCGCCCGCCTCCGCCCCACCCCACCTGCGCGGGGGCCACGTGACGGACAGGGCCCCGGGATCGGCCAAGGCCAACCCTCGCCCTCACCGGCCGGGCTCTCGGGGAGCTGGCAATCGCGGCCGGAGGGCCCGGGCACCCAGGGCGGGCGACACTCGCAGCGGTAGGAGCCCGGCAGGTTGACGCAGCGGCCAGGGCGGCAGGCTGCCGGGTCCTGGCACTCGTCCACGTCTACGAACAGCGAGGGGGTGGGTGGGGGCCGTCACAGCTCGGCCCGGGCCCCGCCCCTCCCGCGTACCCCACTCCCCGGCCCGGGCCTCACCCATCTCTTCCGGGCTCAGGCACTGGCGCTGCGCGGGACTGTACTCGGCAGGGGGCGTGCAGGCACAGCGGTAGCCGCCGCGCGTGTTCTCACACACTCCGTTCCGGCAGTTGGACTCGTCCAGGCACTCGTCCACGTCTGCAGGGAGGAAAAGCGTGGGTAGCAGGGGCAGGCCCGGGATGGGCGCGGTGGCGCGTGTCTCCCTGCCGCTTCCCCACGGCCGCCGGGGGGCGGAGCTCACCCACGCATTCCAGCAGGTTCCCGTCGTAGTAGAAGCCCTGCTTGCAGTAGCACTCGTAGCCAGGCTGCGTGTTCACGCACTTGCCCTCCTTGCAAATCTCCGACCCGAACAACATGCACTCGTCGATGTCTGCGGGGTGACAAACACTGGCCGCTCCGGTCCCGCAGCTGCAGCCCGGAGGCGTGGGCTGGGCGCACCACCGGAGCGAAGCCATCCCCGGGCGGGGCCTACAGGAGGGGCGGGGCCTACAGGGCGGGGCCTGCGAGGAAGGTGCGGGCGGGGCTTACCCGGCGCGGGCAGCTGACCCAGCGAGTCCCGGCGGGATCCGGGCGAGCCCAACCCGGGGTGAGAGGGCGCGGGGCGGGCGGAGCCGCAGGGCGCTTACCACGGTGGGCTGGGATGCCGTAGTTGACGATGTTGTTGTCCTGGGTGTAGCCCTTTCCGTCTGGGCAGAGGCTGTGGAACTCGGCTGCAGGGGCAGGGCGGCCGTGGGGAGGGAAGAGGCAGGACTGAGCGCGCGCGTGGGCTTAGGGCTGCAGCCCGCCGCCTATTTCCCAACTGCCAGGGGGCGCCATTTCCCACATTTGGCTTCCAGATGAAGAAACTGAAGATCTGGGAAGGGGCCTGCCCGGCTCCTGACCTGAGCTGTAGACTGGGCAGGGGTAGATTTCGCAGTGGTCGCCCCAGCCGGCCCCCAGAGAGCAGCAGCACTCCTGCTGGGTCACGTTGGTGGCCAATACGCTGTCGCAGAACACTGTGTCATCGAAGTTCAGGTAGCACTCCTTCTTGTGGTGGGGCTGCTCCACCTCTGAGGGGCAGACGGCAGCTCAGGGTTGTGCACAGACCCCCCTTGGCCCTGTCCACCCTGCCCACCCACCACAGGTCTTTCCCCCCACATTCCCTGGCTCCCCTTAGCCTCCTCCTGAGAGTTGGCTCTGTTCTCAACGTGGTGTTCTGGACCCTTCATCGTCTGGCCCCACCAGACTCCCCCAGCCAAAAGAGATTTCTTCCGGTTCCCCAAATTTAGGAGGGTGGGGCCAGGACACATCTCTGAATCCCAGCTGCAGCTCAGGGGAGTTGTCCAGTCCGAGGGAGGAGCTGGGAGGACACTCAC | AGGACTGGGGCTGTCCTCAGAATGGGGCAGAGCTGGGGGCCCAATTTCCCCATCTGGCTGACAGCAGCAGTTTCTGGCCCTCAAGGCTGTTGGAAGGGGCATCTAGATCTCATTCCCCAGCCTTAAAGAGGGGTGAGGGCAGGCCAGGGTCAGCGTCCATTTAATAGATGGGAAACAGGGCCTGAGGAGCAAATGAGGAGGAAGGCAAAAGACAGTGGTGGGGCCCGTGGCTGGGATGATGCTGGGGCGGGCTCACTTGCCCTTTAGCATGGGGTGGGAGTCAGTGGTCCCTTCCCACACTGCAGCAGGAGGCCGAGTCTGTGCTGGCCCAGCAGGACGACTGGAGCACCGGGGGCCAAGTGAGCCGTGCTAGTCAGGTGAGCTGGGTCTGGTGGGGAGGTGTGTGTATGGGGCTCTTTCCTCCTTGGGCCCAGGGCTACTTCCCCCTCCCGCTCTTCTACAGGTCAGCAACTCCGACCACAAATCCTCCAAATCCCCAGAGTCCGACTGGAGCAGCTGGGAAGCTGAGGGCTCCTGGGAACAGGGCTGGCAGGAGCCAAGCTCCCAGGAGCCACCTCCTGACGGTACACGGCTGGCCAGCGAGTATAACTGGGGTGGCCCAGAGTCCAGCGACAAGGGCGACCCCTTCGCTACCCTGTCTGCACGTCCCAGCACCCAGGTACCCAGCACAGGTCTGGCGAGAGGGTAGAGATGGTGGACCTCAGCCAGAAGTGGGCCCCACTGCAGCCCACACTTCTCTTTACAGCCGAGGCCAGACTCTTGGGGTGAGGACAACTGGGAGGGCCTCGAGACTGACAGTCGTAAGTGCTTCCCCTGGGTGGGCTGAAGACTAGGGCTCCCCGACTAGCCCGCCCCTACAGGCCCCCGGCAGGCACTGGCTGGAGAGCTGAGACCGGGGCTCCCCTTCCTGACGCCAGGACAGGTCAAGGCTGAGCTGGCCCGGAAGAAGCGCGAGGAGCGGCGGCGGGAGATGGAGGCCAAACGCGCCGAGAGGAAGGTGGCCAAGGGCCCCATGAAGCTGGGAGCCCGGAAGCTGGACTGAACCGTGGCGGTGGCCCTTCCCGGCTGCGGAGAGCCCGCCCCACAGATGTATTTATTGTACAAACCATGTGAGCCCGGCCGGCCCAGCCAGGCCATCTCACGTGTACATAATCAGAGCCACAATAAATTCTATTTCACACCCCTTGTGCCGGGCTCAGTCTAGCCCCTGGGAGGCGGCTGGGGTCTGGCGCCGCCCTGCGCAGCCCGCGCCCACGTCAGACGTGAACATCAATTTGCTTCGAAAGCCAAGGGTAAAGAGGCACGATCTGATTTATCAGTTTCTAGGAAACACCCTCTGGGAGGAAGGCAGGCAGCGCCCGCCGGAGACCTTACAACCGCCCGCTAACCGGGGAGGGGGGCCGGTAGGGGCGCCTCGGGTCTCAAGGCGCCGGGAGGGTCTGCGGGCCCTGAAGGTCCCTGGGTCCGAGCCACAAGTCGGGGCAGAAGTGAGGCCGAGCTCGCGGAAATCCCTCAGTGATCACCGAGGTCTGGGCCGAGGGCGGCGTCGGCGGCGTCAGCGGCGGCGCTGGGGAACGCAGGCCCCGTGCGGGCGGCTGCGCGCGAAGCCGGCTTTGCAGACGCAGCGGAAGGAGCCGCTGGTGTTCACGCAGCGCTCGCTCTTGCACAGCAGCCCGCGCTGGTTCAGCTCTCGGCACTCGTCGATATCTGAAGGTGAGGGCGACAGGTGCGGCTTCGCTGAGCCTCCAGGCGGCTCCTCACCACCGGCCCCGCCCCTGCCCCCACCCCCGAAGCCCGGCTCACCCACGCAGCGGGCGCGGGAGGCGTCGAGCTGGAAGCCGCCGGGACACTCGCACACGGCGCCGCCCGGCCGCGGCACGCAGCGGCCACTCACGCAGCGACACTCGTCTGAATCCTCCTCTGAACTGTCCTCATCTGCGTGGCCCGGAACAATATGGACTTCAACACTGAGCCCCGGCCAAAGGCTACCAACCCCGCCACCGCCCGACCCGGCAGCACTCACCTCTTGGGGGCTTCCCCAACAGCAGGGGGCTTCCCCAACAGCAGGGGGCTTGTGTCCCAGAAGGAATTGCTCTCGCTCTGCGATGTCGGGCAATGGGACCCTGGGAGGAGCAGAACTGGTCAGCGACGTCCGGGTCCCCGGGCCCTGGCCCCCATCCTCGCTCCCGGCCAACTCCTCCCCGACTGCCTTACCCGCGCCGCGCGGCGGGCACGGTCGGCATTGGGCGCCCCAGCCGCGGCCCTGGCGGCAGCAGCAGTCGTCGAAGGTGAGGGCAGGCCCGGCCAGGGGGCCAGCGCACATGCCGTCCTCTCCGCGCTGGCTCCAGCACACGTCGCGCCGCTCCGGGGCACGCTCTGCGGAAGACACCTGGCATCAGGGGAGGGGCCCAAGGCAGGAACCGCCCGCCTCCGCCCCACCCCACCTGCGCGGGGGCCACGTGACGGACAGGGCCCCGGGATCGGCCAAGGCCAACCCTCGCCCTCACCGGCCGGGCTCTCGGGGAGCTGGCAATCGCGGCCGGAGGGCCCGGGCACCCAGGGCGGGCGACACTCGCAGCGGTAGGAGCCCGGCAGGTTGACGCAGCGGCCAGGGCGGCAGGCTGCCGGGTCCTGGCACTCGTCCACGTCTACGAACAGCGAGGGGGTGGGTGGGGGCCGTCACAGCTCGGCCCGGGCCCCGCCCCTCCCGCGTACCCCACTCCCCGGCCCGGGCCTCACCCATCTCTTCCGGGCTCAGGCACTGGCGCTGCGCGGGACTGTACTCGGCAGGGGGCGTGCAGGCACAGCGGTAGCCGCCGCGCGTGTTCTCACACACTCCGTTCCGGCAGTTGGACTCGTCCAGGCACTCGTCCACGTCTGCAGGGAGGAAAAGCGTGGGTAGCAGGGGCAGGCCCGGGATGGGCGCGGTGGCGCGTGTCTCCCTGCCGCTTCCCCACGGCCGCCGGGGGGCGGAGCTCACCCACGCATTCCAGCAGGTTCCCGTCGTAGTAGAAGCCCTGCTTGCAGTAGCACTCGTAGCCAGGCTGCGTGTTCACGCACTTGCCCTCCTTGCAAATCTCCGACCCGAACAACATGCACTCGTCGATGTCTGCGGGGTGACAAACACTGGCCGCTCCGGTCCCGCAGCTGCAGCCCGGAGGCGTGGGCTGGGCGCACCACCGGAGCGAAGCCATCCCCGGGCGGGGCCTACAGGAGGGGCGGGGCCTACAGGGCGGGGCCTGCGAGGAAGGTGCGGGCGGGGCTTACCCGGCGCGGGCAGCTGACCCAGCGAGTCCCGGCGGGATCCGGGCGAGCCCAACCCGGGGTGAGAGGGCGCGGGGCGGGCGGAGCCGCAGGGCGCTTACCACGGTGGGCTGGGATGCCGTAGTTGACGATGTTGTTGTCCTGGGTGTAGCCCTTTCCGTCTGGGCAGAGGCTGTGGAACTCGGCTGCAGGGGCAGGGCGGCCGTGGGGAGGGAAGAGGCAGGACTGAGCGCGCGCGTGGGCTTAGGGCTGCAGCCCGCCGCCTATTTCCCAACTGCCAGGGGGCGCCATTTCCCACATTTGGCTTCCAGATGAAGAAACTGAAGATCTGGGAAGGGGCCTGCCCGGCTCCTGACCTGAGCTGTAGACTGGGCAGGGGTAGATTTCGCAGTGGTCGCCCCAGCCGGCCCCCAGAGAGCAGCAGCACTCCTGCTGGGTCACGTTGGTGGCCAATACGCTGTCGCAGAACACTGTGTCATCGAAGTTCAGGTAGCACTCCTTCTTGTGGTGGGGCTGCTCCACCTCTGAGGGGCAGACGGCAGCTCAGGGTTGTGCACAGACCCCCCTTGGCCCTGTCCACCCTGCCCACCCACCACAGGTCTTTCCCCCCACATTCCCTGGCTCCCCTTAGCCTCCTCCTGAGAGTTGGCTCTGTTCTCAACGTGGTGTTCTGGACCCTTCATCGTCTGGCCCCACCAGACTCCCCCAGCCAAAAGAGATTTCTTCCGGTTCCCCAAATTTAGGAGGGTGGGGCCAGGACACATCTCTGAATCCCAGCTGCAGCTCAGGGGAGTTGTCCAGTCCGAGGGAG | pathogenic | 178,297 |
Variant on chromosome 11, at position 65540055, affecting LTBP3: is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Brachyolmia-amelogenesis_imperfecta_syndrome'] | CCGACTGGAGCAGCTGGGAAGCTGAGGGCTCCTGGGAACAGGGCTGGCAGGAGCCAAGCTCCCAGGAGCCACCTCCTGACGGTACACGGCTGGCCAGCGAGTATAACTGGGGTGGCCCAGAGTCCAGCGACAAGGGCGACCCCTTCGCTACCCTGTCTGCACGTCCCAGCACCCAGGTACCCAGCACAGGTCTGGCGAGAGGGTAGAGATGGTGGACCTCAGCCAGAAGTGGGCCCCACTGCAGCCCACACTTCTCTTTACAGCCGAGGCCAGACTCTTGGGGTGAGGACAACTGGGAGGGCCTCGAGACTGACAGTCGTAAGTGCTTCCCCTGGGTGGGCTGAAGACTAGGGCTCCCCGACTAGCCCGCCCCTACAGGCCCCCGGCAGGCACTGGCTGGAGAGCTGAGACCGGGGCTCCCCTTCCTGACGCCAGGACAGGTCAAGGCTGAGCTGGCCCGGAAGAAGCGCGAGGAGCGGCGGCGGGAGATGGAGGCCAAACGCGCCGAGAGGAAGGTGGCCAAGGGCCCCATGAAGCTGGGAGCCCGGAAGCTGGACTGAACCGTGGCGGTGGCCCTTCCCGGCTGCGGAGAGCCCGCCCCACAGATGTATTTATTGTACAAACCATGTGAGCCCGGCCGGCCCAGCCAGGCCATCTCACGTGTACATAATCAGAGCCACAATAAATTCTATTTCACACCCCTTGTGCCGGGCTCAGTCTAGCCCCTGGGAGGCGGCTGGGGTCTGGCGCCGCCCTGCGCAGCCCGCGCCCACGTCAGACGTGAACATCAATTTGCTTCGAAAGCCAAGGGTAAAGAGGCACGATCTGATTTATCAGTTTCTAGGAAACACCCTCTGGGAGGAAGGCAGGCAGCGCCCGCCGGAGACCTTACAACCGCCCGCTAACCGGGGAGGGGGGCCGGTAGGGGCGCCTCGGGTCTCAAGGCGCCGGGAGGGTCTGCGGGCCCTGAAGGTCCCTGGGTCCGAGCCACAAGTCGGGGCAGAAGTGAGGCCGAGCTCGCGGAAATCCCTCAGTGATCACCGAGGTCTGGGCCGAGGGCGGCGTCGGCGGCGTCAGCGGCGGCGCTGGGGAACGCAGGCCCCGTGCGGGCGGCTGCGCGCGAAGCCGGCTTTGCAGACGCAGCGGAAGGAGCCGCTGGTGTTCACGCAGCGCTCGCTCTTGCACAGCAGCCCGCGCTGGTTCAGCTCTCGGCACTCGTCGATATCTGAAGGTGAGGGCGACAGGTGCGGCTTCGCTGAGCCTCCAGGCGGCTCCTCACCACCGGCCCCGCCCCTGCCCCCACCCCCGAAGCCCGGCTCACCCACGCAGCGGGCGCGGGAGGCGTCGAGCTGGAAGCCGCCGGGACACTCGCACACGGCGCCGCCCGGCCGCGGCACGCAGCGGCCACTCACGCAGCGACACTCGTCTGAATCCTCCTCTGAACTGTCCTCATCTGCGTGGCCCGGAACAATATGGACTTCAACACTGAGCCCCGGCCAAAGGCTACCAACCCCGCCACCGCCCGACCCGGCAGCACTCACCTCTTGGGGGCTTCCCCAACAGCAGGGGGCTTGTGTCCCAGAAGGAATTGCTCTCGCTCTGCGATGTCGGGCAATGGGACCCTGGGAGGAGCAGAACTGGTCAGCGACGTCCGGGTCCCCGGGCCCTGGCCCCCATCCTCGCTCCCGGCCAACTCCTCCCCGACTGCCTTACCCGCGCCGCGCGGCGGGCACGGTCGGCATTGGGCGCCCCAGCCGCGGCCCTGGCGGCAGCAGCAGTCGTCGAAGGTGAGGGCAGGCCCGGCCAGGGGGCCAGCGCACATGCCGTCCTCTCCGCGCTGGCTCCAGCACACGTCGCGCCGCTCCGGGGCACGCTCTGCGGAAGACACCTGGCATCAGGGGAGGGGCCCAAGGCAGGAACCGCCCGCCTCCGCCCCACCCCACCTGCGCGGGGGCCACGTGACGGACAGGGCCCCGGGATCGGCCAAGGCCAACCCTCGCCCTCACCGGCCGGGCTCTCGGGGAGCTGGCAATCGCGGCCGGAGGGCCCGGGCACCCAGGGCGGGCGACACTCGCAGCGGTAGGAGCCCGGCAGGTTGACGCAGCGGCCAGGGCGGCAGGCTGCCGGGTCCTGGCACTCGTCCACGTCTACGAACAGCGAGGGGGTGGGTGGGGGCCGTCACAGCTCGGCCCGGGCCCCGCCCCTCCCGCGTACCCCACTCCCCGGCCCGGGCCTCACCCATCTCTTCCGGGCTCAGGCACTGGCGCTGCGCGGGACTGTACTCGGCAGGGGGCGTGCAGGCACAGCGGTAGCCGCCGCGCGTGTTCTCACACACTCCGTTCCGGCAGTTGGACTCGTCCAGGCACTCGTCCACGTCTGCAGGGAGGAAAAGCGTGGGTAGCAGGGGCAGGCCCGGGATGGGCGCGGTGGCGCGTGTCTCCCTGCCGCTTCCCCACGGCCGCCGGGGGGCGGAGCTCACCCACGCATTCCAGCAGGTTCCCGTCGTAGTAGAAGCCCTGCTTGCAGTAGCACTCGTAGCCAGGCTGCGTGTTCACGCACTTGCCCTCCTTGCAAATCTCCGACCCGAACAACATGCACTCGTCGATGTCTGCGGGGTGACAAACACTGGCCGCTCCGGTCCCGCAGCTGCAGCCCGGAGGCGTGGGCTGGGCGCACCACCGGAGCGAAGCCATCCCCGGGCGGGGCCTACAGGAGGGGCGGGGCCTACAGGGCGGGGCCTGCGAGGAAGGTGCGGGCGGGGCTTACCCGGCGCGGGCAGCTGACCCAGCGAGTCCCGGCGGGATCCGGGCGAGCCCAACCCGGGGTGAGAGGGCGCGGGGCGGGCGGAGCCGCAGGGCGCTTACCACGGTGGGCTGGGATGCCGTAGTTGACGATGTTGTTGTCCTGGGTGTAGCCCTTTCCGTCTGGGCAGAGGCTGTGGAACTCGGCTGCAGGGGCAGGGCGGCCGTGGGGAGGGAAGAGGCAGGACTGAGCGCGCGCGTGGGCTTAGGGCTGCAGCCCGCCGCCTATTTCCCAACTGCCAGGGGGCGCCATTTCCCACATTTGGCTTCCAGATGAAGAAACTGAAGATCTGGGAAGGGGCCTGCCCGGCTCCTGACCTGAGCTGTAGACTGGGCAGGGGTAGATTTCGCAGTGGTCGCCCCAGCCGGCCCCCAGAGAGCAGCAGCACTCCTGCTGGGTCACGTTGGTGGCCAATACGCTGTCGCAGAACACTGTGTCATCGAAGTTCAGGTAGCACTCCTTCTTGTGGTGGGGCTGCTCCACCTCTGAGGGGCAGACGGCAGCTCAGGGTTGTGCACAGACCCCCCTTGGCCCTGTCCACCCTGCCCACCCACCACAGGTCTTTCCCCCCACATTCCCTGGCTCCCCTTAGCCTCCTCCTGAGAGTTGGCTCTGTTCTCAACGTGGTGTTCTGGACCCTTCATCGTCTGGCCCCACCAGACTCCCCCAGCCAAAAGAGATTTCTTCCGGTTCCCCAAATTTAGGAGGGTGGGGCCAGGACACATCTCTGAATCCCAGCTGCAGCTCAGGGGAGTTGTCCAGTCCGAGGGAGGAGCTGGGAGGACACTCACCCTCACAACCGTGCTGGTCCTGGGTGGGAGTGAAGCCCTCATCGCAGACACACACATAGGAGCCCTGAAGGTTCTTGCAGGCCCCATGGGGAAGGCACAGGCTCGGGTCCTGGCTGCACTCATCTATGTCTGCGGGGCAAGAGTAGCGCAGCTGGAAACCCAGCCCCTCTTTCCCTGGGGCTGCACCTCAAGGGCCTCACACAAGTTCAGAACCTGAATTTCCACTTTGGTTTCAAAGTATGTACAGCAGGAAGTCTGCTGTGTCTGTGCATGTGTCTGAATGTGCATGTGGACATTAGCTGCTGTCCTTCATAACACCTTCAGTGGCTCCCACTAACCTTACAAAACCTAAAAGTATCAGAAGCCCAAATGGAAAGGCCTCAAATGCAATTGAGCTTCCGATACCTTTAGGTCTCATCACGCCTTACTCTAGACCACCCTCCACTCCCCAACTCTGTGCTCAGGGCACCCTCCCCTCCTCTGTAAACACAACTAGCTCCTTC | CCGACTGGAGCAGCTGGGAAGCTGAGGGCTCCTGGGAACAGGGCTGGCAGGAGCCAAGCTCCCAGGAGCCACCTCCTGACGGTACACGGCTGGCCAGCGAGTATAACTGGGGTGGCCCAGAGTCCAGCGACAAGGGCGACCCCTTCGCTACCCTGTCTGCACGTCCCAGCACCCAGGTACCCAGCACAGGTCTGGCGAGAGGGTAGAGATGGTGGACCTCAGCCAGAAGTGGGCCCCACTGCAGCCCACACTTCTCTTTACAGCCGAGGCCAGACTCTTGGGGTGAGGACAACTGGGAGGGCCTCGAGACTGACAGTCGTAAGTGCTTCCCCTGGGTGGGCTGAAGACTAGGGCTCCCCGACTAGCCCGCCCCTACAGGCCCCCGGCAGGCACTGGCTGGAGAGCTGAGACCGGGGCTCCCCTTCCTGACGCCAGGACAGGTCAAGGCTGAGCTGGCCCGGAAGAAGCGCGAGGAGCGGCGGCGGGAGATGGAGGCCAAACGCGCCGAGAGGAAGGTGGCCAAGGGCCCCATGAAGCTGGGAGCCCGGAAGCTGGACTGAACCGTGGCGGTGGCCCTTCCCGGCTGCGGAGAGCCCGCCCCACAGATGTATTTATTGTACAAACCATGTGAGCCCGGCCGGCCCAGCCAGGCCATCTCACGTGTACATAATCAGAGCCACAATAAATTCTATTTCACACCCCTTGTGCCGGGCTCAGTCTAGCCCCTGGGAGGCGGCTGGGGTCTGGCGCCGCCCTGCGCAGCCCGCGCCCACGTCAGACGTGAACATCAATTTGCTTCGAAAGCCAAGGGTAAAGAGGCACGATCTGATTTATCAGTTTCTAGGAAACACCCTCTGGGAGGAAGGCAGGCAGCGCCCGCCGGAGACCTTACAACCGCCCGCTAACCGGGGAGGGGGGCCGGTAGGGGCGCCTCGGGTCTCAAGGCGCCGGGAGGGTCTGCGGGCCCTGAAGGTCCCTGGGTCCGAGCCACAAGTCGGGGCAGAAGTGAGGCCGAGCTCGCGGAAATCCCTCAGTGATCACCGAGGTCTGGGCCGAGGGCGGCGTCGGCGGCGTCAGCGGCGGCGCTGGGGAACGCAGGCCCCGTGCGGGCGGCTGCGCGCGAAGCCGGCTTTGCAGACGCAGCGGAAGGAGCCGCTGGTGTTCACGCAGCGCTCGCTCTTGCACAGCAGCCCGCGCTGGTTCAGCTCTCGGCACTCGTCGATATCTGAAGGTGAGGGCGACAGGTGCGGCTTCGCTGAGCCTCCAGGCGGCTCCTCACCACCGGCCCCGCCCCTGCCCCCACCCCCGAAGCCCGGCTCACCCACGCAGCGGGCGCGGGAGGCGTCGAGCTGGAAGCCGCCGGGACACTCGCACACGGCGCCGCCCGGCCGCGGCACGCAGCGGCCACTCACGCAGCGACACTCGTCTGAATCCTCCTCTGAACTGTCCTCATCTGCGTGGCCCGGAACAATATGGACTTCAACACTGAGCCCCGGCCAAAGGCTACCAACCCCGCCACCGCCCGACCCGGCAGCACTCACCTCTTGGGGGCTTCCCCAACAGCAGGGGGCTTGTGTCCCAGAAGGAATTGCTCTCGCTCTGCGATGTCGGGCAATGGGACCCTGGGAGGAGCAGAACTGGTCAGCGACGTCCGGGTCCCCGGGCCCTGGCCCCCATCCTCGCTCCCGGCCAACTCCTCCCCGACTGCCTTACCCGCGCCGCGCGGCGGGCACGGTCGGCATTGGGCGCCCCAGCCGCGGCCCTGGCGGCAGCAGCAGTCGTCGAAGGTGAGGGCAGGCCCGGCCAGGGGGCCAGCGCACATGCCGTCCTCTCCGCGCTGGCTCCAGCACACGTCGCGCCGCTCCGGGGCACGCTCTGCGGAAGACACCTGGCATCAGGGGAGGGGCCCAAGGCAGGAACCGCCCGCCTCCGCCCCACCCCACCTGCGCGGGGGCCACGTGACGGACAGGGCCCCGGGATCGGCCAAGGCCAACCCTCGCCCTCACCGGCCGGGCTCTCGGGGAGCTGGCAATCGCGGCCGGAGGGCCCGGGGCACCCAGGGCGGGCGACACTCGCAGCGGTAGGAGCCCGGCAGGTTGACGCAGCGGCCAGGGCGGCAGGCTGCCGGGTCCTGGCACTCGTCCACGTCTACGAACAGCGAGGGGGTGGGTGGGGGCCGTCACAGCTCGGCCCGGGCCCCGCCCCTCCCGCGTACCCCACTCCCCGGCCCGGGCCTCACCCATCTCTTCCGGGCTCAGGCACTGGCGCTGCGCGGGACTGTACTCGGCAGGGGGCGTGCAGGCACAGCGGTAGCCGCCGCGCGTGTTCTCACACACTCCGTTCCGGCAGTTGGACTCGTCCAGGCACTCGTCCACGTCTGCAGGGAGGAAAAGCGTGGGTAGCAGGGGCAGGCCCGGGATGGGCGCGGTGGCGCGTGTCTCCCTGCCGCTTCCCCACGGCCGCCGGGGGGCGGAGCTCACCCACGCATTCCAGCAGGTTCCCGTCGTAGTAGAAGCCCTGCTTGCAGTAGCACTCGTAGCCAGGCTGCGTGTTCACGCACTTGCCCTCCTTGCAAATCTCCGACCCGAACAACATGCACTCGTCGATGTCTGCGGGGTGACAAACACTGGCCGCTCCGGTCCCGCAGCTGCAGCCCGGAGGCGTGGGCTGGGCGCACCACCGGAGCGAAGCCATCCCCGGGCGGGGCCTACAGGAGGGGCGGGGCCTACAGGGCGGGGCCTGCGAGGAAGGTGCGGGCGGGGCTTACCCGGCGCGGGCAGCTGACCCAGCGAGTCCCGGCGGGATCCGGGCGAGCCCAACCCGGGGTGAGAGGGCGCGGGGCGGGCGGAGCCGCAGGGCGCTTACCACGGTGGGCTGGGATGCCGTAGTTGACGATGTTGTTGTCCTGGGTGTAGCCCTTTCCGTCTGGGCAGAGGCTGTGGAACTCGGCTGCAGGGGCAGGGCGGCCGTGGGGAGGGAAGAGGCAGGACTGAGCGCGCGCGTGGGCTTAGGGCTGCAGCCCGCCGCCTATTTCCCAACTGCCAGGGGGCGCCATTTCCCACATTTGGCTTCCAGATGAAGAAACTGAAGATCTGGGAAGGGGCCTGCCCGGCTCCTGACCTGAGCTGTAGACTGGGCAGGGGTAGATTTCGCAGTGGTCGCCCCAGCCGGCCCCCAGAGAGCAGCAGCACTCCTGCTGGGTCACGTTGGTGGCCAATACGCTGTCGCAGAACACTGTGTCATCGAAGTTCAGGTAGCACTCCTTCTTGTGGTGGGGCTGCTCCACCTCTGAGGGGCAGACGGCAGCTCAGGGTTGTGCACAGACCCCCCTTGGCCCTGTCCACCCTGCCCACCCACCACAGGTCTTTCCCCCCACATTCCCTGGCTCCCCTTAGCCTCCTCCTGAGAGTTGGCTCTGTTCTCAACGTGGTGTTCTGGACCCTTCATCGTCTGGCCCCACCAGACTCCCCCAGCCAAAAGAGATTTCTTCCGGTTCCCCAAATTTAGGAGGGTGGGGCCAGGACACATCTCTGAATCCCAGCTGCAGCTCAGGGGAGTTGTCCAGTCCGAGGGAGGAGCTGGGAGGACACTCACCCTCACAACCGTGCTGGTCCTGGGTGGGAGTGAAGCCCTCATCGCAGACACACACATAGGAGCCCTGAAGGTTCTTGCAGGCCCCATGGGGAAGGCACAGGCTCGGGTCCTGGCTGCACTCATCTATGTCTGCGGGGCAAGAGTAGCGCAGCTGGAAACCCAGCCCCTCTTTCCCTGGGGCTGCACCTCAAGGGCCTCACACAAGTTCAGAACCTGAATTTCCACTTTGGTTTCAAAGTATGTACAGCAGGAAGTCTGCTGTGTCTGTGCATGTGTCTGAATGTGCATGTGGACATTAGCTGCTGTCCTTCATAACACCTTCAGTGGCTCCCACTAACCTTACAAAACCTAAAAGTATCAGAAGCCCAAATGGAAAGGCCTCAAATGCAATTGAGCTTCCGATACCTTTAGGTCTCATCACGCCTTACTCTAGACCACCCTCCACTCCCCAACTCTGTGCTCAGGGCACCCTCCCCTCCTCTGTAAACACAACTAGCTCCTT | pathogenic | 178,323 |
A mutation at chromosome position 65557827 on chromosome 11 in gene LTBP3 (latent transforming growth factor beta binding protein 3): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Brachyolmia-amelogenesis_imperfecta_syndrome', 'Heritable_Thoracic_Aortic_Disease'] | CCCACCCCATGGCTGCCCTCACTTCCCAGGGCAGGAGGGCAGGAGGGCGGGGGTGCTGCTCTCCTGGATGCCAGAAGGGCCTCACAGGGACAGCCCATATCCATGGCCCTCAGGGTCAGGCTAAGCACATCCCAGCCCAGCCCATCCTGCCTGGCCTCTTGGGGCCAGGCCTCACAGAGCAGAGGGGTGTGTCCTGGGCGGGGGGAGGTAGGATTCTCTTTTTCCTTTCTGCCAGTGAGTCACTCATAGCGGTGAGAGTGACCTCCCAATGACACCCGCCCACTGTGGCCTGGGCACCGAGCCTGGGGGATGTGGGCAGCACAGATGGAGACAGCAGCCTGGGCAGGATGGCCAGGGAGCCTGGGAGATGGACACACGTACACTCACACCCACAGTCCTCTTGTCACACACACACAGAGACTCATCCTGACACCAACACAGGTTCACATAAACATTCCCATACATTTGGCCGGGCGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTAGATCACTCGAGATCAGGAGTTTGAGACCAGGCTGACCAACATGGTGAAACTCCATCTCTACTAAATACAAAAAAATTGGCCAGGCGTGGTGGCGCATGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGAAGGGGGAGGTTGCAGTGAGCTGAGATTGCGCCATTGCACTCCAGCCTGGGTAACAAGAGCAAAACTCCATCTCAAAAACACAAAAACAAAAACATTCCCACATACTCTCTAACAGCGACTAGAGACACACACCCAAGACAACACAAAGACGGGTACTTCACAGTGTGCCACGCCATGCCCATGGCATGACCCCAGACACAGGGGCAATATGCGCACAGACACACGCACGCACACCCCATCTCATGACAAATTTGAGCCACATGAGTGGGGTTCCTTAGCTCTGTGAGTGGGAGAGTGAATATAGGAATGTGTAAGAGGGGCTGTTTTGCTGGTGCCATCCTGGGCCTGGCCTAATTACCCTGTCCAGGAGGGTAATTACTGCTGGGACACCTCCCCGAGCCTGGCCCACGGGGCCTAGCAGGAGGATGACTGAGCCCCAGGCCTGGCCCTTTAAAGAGAGATGCTGGGGAGGGGGTGGACTCCAAGCTGAACTGGGGAGGGTGTAGGGGCTTGGGGGAGGATGAGGGGGGCCCTGAGGGCCTCTGAGGCAGGATGTTAGGAGCTTATGGGGAGGCATTGGAAAAGGAGAGGCTGAGAACCCCGAACTAGTCCCTACCTTCAGGCCTGCACCCTACTTTTAGGCCTCAACACCCTCCCTACTCAGACCTTGCCAGTAGCCGGCTCCCATCCCCAGCCCTGACCTTAGCTCCTCCTCCCAGGGAATGCAGGTGTCTACTCTGGCAGGCCCTACTTTAGACATTTTGTAAAGACTTTTCTTGTTTCTTCCAGCAAGTCTGCTTCTTGCGGGAATATTTAGCCCTTCTCTGAGGCTTCCTGTCCCCGGCTCACATTCCTCAAAAACCCTGTGTGCTCCTGCTCAGAACTCAGCACCTTCTGGGAAGCCAGTGTCATCCAGGACCTCTGCATTTCCCCACCCCTTAGGCCCCAACCCTAACGCAAAGCTTCAAAGTCCAGGCCTCCATGCAGCCCTCCAACTCTGGCCCCCAGAGTTCCAGCCTCCCAAGTTCCCTGAGGCCCCTGGTCCCCCAGGCCCTCGGATCTCTGCCCTTTATACCCTCAGCCCCCAGTCTCTAAGGCCAAGACCCCACTAGCTCTCCCACCGGGCCTGGTGCCTGTCCTTCCCCTGCCCCCAGCCGTGCCCCCGGCCCTCACCCACGCGGAAGCCGGAGCCCGTGAGCGTGTCTGTGCTGTGGCCGTTCTCTCCGATGAGCGTCATGTTGGAGCCCTGCTGACAACTGTCCCGACACTGGCCCTTGAGACAGGTCCGCTTGCAGATCACCGGCGCAAAGACCACCTTGAAGCGCTCGCGGGCCAGCGCCCCGCCCCCGCCTGCGCCCCGCTCGCCGGCCGGCCCCCCCTCGACCCTGCCGCCCAGGCCCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCGCCAGCAGCCCCGCCGCCCCCGCCCCGCGCATCTCAGGGGCCAGGCCGCCAGCAGCCCCTCGGGGCCCGGGCATCCGGGGCCGCAGGACCCGGGGGAGGGGGGGCGCGCCCGGGCGGGGCGAGGGGCCCGCGCCCGAAGGGAGTAGAGGGCCGGGAGCCCCGGGAGAGGGTAGGGGGCAGCGAGGGAGGGCAGCGGGGGAAGCGGGCGGGAGGGGACCGCGGGGGCCCGGCGGGAGGCGCGGAGATGCAGACTGGACAGCGGGGAGCGCAGAAACTTCCCAGCCCCAGGACGAAGCCCAGACCAGGCCCCGAACTCAGGCAGGAGCGAGGAGGCCGGAGCAAGTTGAGGCGGAGAGGAGGAGCGAGGGAGAGGAAGGCCGGGCGGCCGGCCCGCTCCGCGCCTCCCCCTGGCCGGGCTCCTCTCCCGCGGCCGCGGGGAGGCAGGGAGCGCGCGGGGAGGGCTCAGGGAGAAGTGAGCAGTTGTTTTCCCTGGCTGGAGCGCGGCGCGGCGGCGGCGAGGGGGGCTGGGACGCTGGCCCCGGGCCAGGGACACAGTTTTTTTTTTTTTGTTGTTTAAAGCGTCGCCTCTGCCGCCTGGAGAAGCGAGGGTGTGCAGGCTGGCGGAGGCTGGGGGGTGGCGCGGGGACAGTCCCCACCCCAGATGCCCGCCCCCGCCGGAACCCGCGGCCGCGCTGGGCCCTTTCCAGAGGGCCCTCACCTGGGACCGTCTGGCCGGCCGCGGATTCCTCCGGGCGGGGCGGGGCGGGGAGGCCTGCGTAGAGCGAGATACCGAGGCTGAGGGAGAGAGGTGGCCCTGCCGGGTCACACTGACGATGGAGGCCGGGTGGAGCCGGAGCCCAGGCCTTCCAGCTCTTTCCCAGCCTCCCTTGCAAACGTGGGGGTCTCAGGGCCCCAAAGTAACTTCTCGTTAGTGCTGGTCCAATCCCCTCTGAGGAAAGGGCTAAAGGGTGGGGACAGCCTTTGGCCAGGGCTCACGGAGGTCCCAGGAGGAAGTCTGTGGGGTCCAGAAGAGGAGCAGAAAGAACAAAGCTAGAACCCAGCTTCCCTGCCAGCCCCCTCGGAATGGCTTCCTGGTGCCCACCCTGCCACCTCCCCCCTTTCCTTTCGTCTGGCCGTGCTGGCGGGGCTGGCTCTGGGCCTCAGACACTCTGGAATCGCCAAGGTCTGAGCTCAGGGCCTGGCCCCCTTCCCAGGCTAACAGCCGGGAGGACGGGGGCGCTGTCCGAGGGCCCAGGGGCTGGAGAGGGGCACAGCAGAGCCCCAGGGCAGGGGCTGGCAGCGGCTGGGGGTGGGGGTCTTCAGGTTGGCCATGGCTGGAGAGGAGCATAGTTCCAGACCAGGCTTGTCCGCTGGTCTGGAAGGAAAGGCTGCAACGTGCGGGGGCCCAGGCCTTACTGTGGGGCCTGCCAGGAGACCCCAGGGTTCCGTCTCTGACTCACAGAACTCAGCAGGAGGTGGGGACGGCTAGGGCACATCCAGGAAAAGCGCTGCCAAGTCAGGGCGGCACCAGACCCTCTCCCGGACAGCACCCGGGGCAGCAGTCTAATTGGGGAGAGGAGGTTCAGGGACTCACTTTCAGGCACACCTGTCCAAGGAACTCTGTTTTTACTTTGAGCGTAAGTTGATGTGGGTAGCTTTAGGGGGACGCTTAGTAAGTCCCCCTTACTAAGCGGTGCAGGGCTGGGAGGGACAATCACATGTCCCCAGGGATCCCTGCTGCCGGAATCCAGGATGGGGTGTGAGGGGCAAGCCCCTGCTTCTTGGGGCCCTGGTCCACACGGAGGCAGGGAATAATGCTAGGTGCCGACCACCTGCCAGGCACAGGGCTGAGCATTGTATACTCATTTTTTCCTAACACTCATCTGAACCTGTCCTGACTCTGCCTAGAGCTGGCTGTGGCTCACCATGGAGCACAGCACAGTCAAACAGTCCAGGGTTGGATTCTTACTGTCTCTAAGCCCCAGTTTC | CCCACCCCATGGCTGCCCTCACTTCCCAGGGCAGGAGGGCAGGAGGGCGGGGGTGCTGCTCTCCTGGATGCCAGAAGGGCCTCACAGGGACAGCCCATATCCATGGCCCTCAGGGTCAGGCTAAGCACATCCCAGCCCAGCCCATCCTGCCTGGCCTCTTGGGGCCAGGCCTCACAGAGCAGAGGGGTGTGTCCTGGGCGGGGGGAGGTAGGATTCTCTTTTTCCTTTCTGCCAGTGAGTCACTCATAGCGGTGAGAGTGACCTCCCAATGACACCCGCCCACTGTGGCCTGGGCACCGAGCCTGGGGGATGTGGGCAGCACAGATGGAGACAGCAGCCTGGGCAGGATGGCCAGGGAGCCTGGGAGATGGACACACGTACACTCACACCCACAGTCCTCTTGTCACACACACACAGAGACTCATCCTGACACCAACACAGGTTCACATAAACATTCCCATACATTTGGCCGGGCGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTAGATCACTCGAGATCAGGAGTTTGAGACCAGGCTGACCAACATGGTGAAACTCCATCTCTACTAAATACAAAAAAATTGGCCAGGCGTGGTGGCGCATGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGAAGGGGGAGGTTGCAGTGAGCTGAGATTGCGCCATTGCACTCCAGCCTGGGTAACAAGAGCAAAACTCCATCTCAAAAACACAAAAACAAAAACATTCCCACATACTCTCTAACAGCGACTAGAGACACACACCCAAGACAACACAAAGACGGGTACTTCACAGTGTGCCACGCCATGCCCATGGCATGACCCCAGACACAGGGGCAATATGCGCACAGACACACGCACGCACACCCCATCTCATGACAAATTTGAGCCACATGAGTGGGGTTCCTTAGCTCTGTGAGTGGGAGAGTGAATATAGGAATGTGTAAGAGGGGCTGTTTTGCTGGTGCCATCCTGGGCCTGGCCTAATTACCCTGTCCAGGAGGGTAATTACTGCTGGGACACCTCCCCGAGCCTGGCCCACGGGGCCTAGCAGGAGGATGACTGAGCCCCAGGCCTGGCCCTTTAAAGAGAGATGCTGGGGAGGGGGTGGACTCCAAGCTGAACTGGGGAGGGTGTAGGGGCTTGGGGGAGGATGAGGGGGGCCCTGAGGGCCTCTGAGGCAGGATGTTAGGAGCTTATGGGGAGGCATTGGAAAAGGAGAGGCTGAGAACCCCGAACTAGTCCCTACCTTCAGGCCTGCACCCTACTTTTAGGCCTCAACACCCTCCCTACTCAGACCTTGCCAGTAGCCGGCTCCCATCCCCAGCCCTGACCTTAGCTCCTCCTCCCAGGGAATGCAGGTGTCTACTCTGGCAGGCCCTACTTTAGACATTTTGTAAAGACTTTTCTTGTTTCTTCCAGCAAGTCTGCTTCTTGCGGGAATATTTAGCCCTTCTCTGAGGCTTCCTGTCCCCGGCTCACATTCCTCAAAAACCCTGTGTGCTCCTGCTCAGAACTCAGCACCTTCTGGGAAGCCAGTGTCATCCAGGACCTCTGCATTTCCCCACCCCTTAGGCCCCAACCCTAACGCAAAGCTTCAAAGTCCAGGCCTCCATGCAGCCCTCCAACTCTGGCCCCCAGAGTTCCAGCCTCCCAAGTTCCCTGAGGCCCCTGGTCCCCCAGGCCCTCGGATCTCTGCCCTTTATACCCTCAGCCCCCAGTCTCTAAGGCCAAGACCCCACTAGCTCTCCCACCGGGCCTGGTGCCTGTCCTTCCCCTGCCCCCAGCCGTGCCCCCGGCCCTCACCCACGCGGAAGCCGGAGCCCGTGAGCGTGTCTGTGCTGTGGCCGTTCTCTCCGATGAGCGTCATGTTGGAGCCCTGCTGACAACTGTCCCGACACTGGCCCTTGAGACAGGTCCGCTTGCAGATCACCGGCGCAAAGACCACCTTGAAGCGCTCGCGGGCCAGCGCCCCGCCCCCGCCTGCGCCCCGCTCGCCGGCCGGCCCCCCTCGACCCTGCCGCCCAGGCCCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCGCCAGCAGCCCCGCCGCCCCCGCCCCGCGCATCTCAGGGGCCAGGCCGCCAGCAGCCCCTCGGGGCCCGGGCATCCGGGGCCGCAGGACCCGGGGGAGGGGGGGCGCGCCCGGGCGGGGCGAGGGGCCCGCGCCCGAAGGGAGTAGAGGGCCGGGAGCCCCGGGAGAGGGTAGGGGGCAGCGAGGGAGGGCAGCGGGGGAAGCGGGCGGGAGGGGACCGCGGGGGCCCGGCGGGAGGCGCGGAGATGCAGACTGGACAGCGGGGAGCGCAGAAACTTCCCAGCCCCAGGACGAAGCCCAGACCAGGCCCCGAACTCAGGCAGGAGCGAGGAGGCCGGAGCAAGTTGAGGCGGAGAGGAGGAGCGAGGGAGAGGAAGGCCGGGCGGCCGGCCCGCTCCGCGCCTCCCCCTGGCCGGGCTCCTCTCCCGCGGCCGCGGGGAGGCAGGGAGCGCGCGGGGAGGGCTCAGGGAGAAGTGAGCAGTTGTTTTCCCTGGCTGGAGCGCGGCGCGGCGGCGGCGAGGGGGGCTGGGACGCTGGCCCCGGGCCAGGGACACAGTTTTTTTTTTTTTGTTGTTTAAAGCGTCGCCTCTGCCGCCTGGAGAAGCGAGGGTGTGCAGGCTGGCGGAGGCTGGGGGGTGGCGCGGGGACAGTCCCCACCCCAGATGCCCGCCCCCGCCGGAACCCGCGGCCGCGCTGGGCCCTTTCCAGAGGGCCCTCACCTGGGACCGTCTGGCCGGCCGCGGATTCCTCCGGGCGGGGCGGGGCGGGGAGGCCTGCGTAGAGCGAGATACCGAGGCTGAGGGAGAGAGGTGGCCCTGCCGGGTCACACTGACGATGGAGGCCGGGTGGAGCCGGAGCCCAGGCCTTCCAGCTCTTTCCCAGCCTCCCTTGCAAACGTGGGGGTCTCAGGGCCCCAAAGTAACTTCTCGTTAGTGCTGGTCCAATCCCCTCTGAGGAAAGGGCTAAAGGGTGGGGACAGCCTTTGGCCAGGGCTCACGGAGGTCCCAGGAGGAAGTCTGTGGGGTCCAGAAGAGGAGCAGAAAGAACAAAGCTAGAACCCAGCTTCCCTGCCAGCCCCCTCGGAATGGCTTCCTGGTGCCCACCCTGCCACCTCCCCCCTTTCCTTTCGTCTGGCCGTGCTGGCGGGGCTGGCTCTGGGCCTCAGACACTCTGGAATCGCCAAGGTCTGAGCTCAGGGCCTGGCCCCCTTCCCAGGCTAACAGCCGGGAGGACGGGGGCGCTGTCCGAGGGCCCAGGGGCTGGAGAGGGGCACAGCAGAGCCCCAGGGCAGGGGCTGGCAGCGGCTGGGGGTGGGGGTCTTCAGGTTGGCCATGGCTGGAGAGGAGCATAGTTCCAGACCAGGCTTGTCCGCTGGTCTGGAAGGAAAGGCTGCAACGTGCGGGGGCCCAGGCCTTACTGTGGGGCCTGCCAGGAGACCCCAGGGTTCCGTCTCTGACTCACAGAACTCAGCAGGAGGTGGGGACGGCTAGGGCACATCCAGGAAAAGCGCTGCCAAGTCAGGGCGGCACCAGACCCTCTCCCGGACAGCACCCGGGGCAGCAGTCTAATTGGGGAGAGGAGGTTCAGGGACTCACTTTCAGGCACACCTGTCCAAGGAACTCTGTTTTTACTTTGAGCGTAAGTTGATGTGGGTAGCTTTAGGGGGACGCTTAGTAAGTCCCCCTTACTAAGCGGTGCAGGGCTGGGAGGGACAATCACATGTCCCCAGGGATCCCTGCTGCCGGAATCCAGGATGGGGTGTGAGGGGCAAGCCCCTGCTTCTTGGGGCCCTGGTCCACACGGAGGCAGGGAATAATGCTAGGTGCCGACCACCTGCCAGGCACAGGGCTGAGCATTGTATACTCATTTTTTCCTAACACTCATCTGAACCTGTCCTGACTCTGCCTAGAGCTGGCTGTGGCTCACCATGGAGCACAGCACAGTCAAACAGTCCAGGGTTGGATTCTTACTGTCTCTAAGCCCCAGTTTCN | pathogenic | 178,458 |
Clinical impact (benign or pathogenic) of the variant at chromosome 11, location 65557854, gene LTBP3 (latent transforming growth factor beta binding protein 3): what disease(s) if pathogenic? | benign | AGGGCAGGAGGGCAGGAGGGCGGGGGTGCTGCTCTCCTGGATGCCAGAAGGGCCTCACAGGGACAGCCCATATCCATGGCCCTCAGGGTCAGGCTAAGCACATCCCAGCCCAGCCCATCCTGCCTGGCCTCTTGGGGCCAGGCCTCACAGAGCAGAGGGGTGTGTCCTGGGCGGGGGGAGGTAGGATTCTCTTTTTCCTTTCTGCCAGTGAGTCACTCATAGCGGTGAGAGTGACCTCCCAATGACACCCGCCCACTGTGGCCTGGGCACCGAGCCTGGGGGATGTGGGCAGCACAGATGGAGACAGCAGCCTGGGCAGGATGGCCAGGGAGCCTGGGAGATGGACACACGTACACTCACACCCACAGTCCTCTTGTCACACACACACAGAGACTCATCCTGACACCAACACAGGTTCACATAAACATTCCCATACATTTGGCCGGGCGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTAGATCACTCGAGATCAGGAGTTTGAGACCAGGCTGACCAACATGGTGAAACTCCATCTCTACTAAATACAAAAAAATTGGCCAGGCGTGGTGGCGCATGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGAAGGGGGAGGTTGCAGTGAGCTGAGATTGCGCCATTGCACTCCAGCCTGGGTAACAAGAGCAAAACTCCATCTCAAAAACACAAAAACAAAAACATTCCCACATACTCTCTAACAGCGACTAGAGACACACACCCAAGACAACACAAAGACGGGTACTTCACAGTGTGCCACGCCATGCCCATGGCATGACCCCAGACACAGGGGCAATATGCGCACAGACACACGCACGCACACCCCATCTCATGACAAATTTGAGCCACATGAGTGGGGTTCCTTAGCTCTGTGAGTGGGAGAGTGAATATAGGAATGTGTAAGAGGGGCTGTTTTGCTGGTGCCATCCTGGGCCTGGCCTAATTACCCTGTCCAGGAGGGTAATTACTGCTGGGACACCTCCCCGAGCCTGGCCCACGGGGCCTAGCAGGAGGATGACTGAGCCCCAGGCCTGGCCCTTTAAAGAGAGATGCTGGGGAGGGGGTGGACTCCAAGCTGAACTGGGGAGGGTGTAGGGGCTTGGGGGAGGATGAGGGGGGCCCTGAGGGCCTCTGAGGCAGGATGTTAGGAGCTTATGGGGAGGCATTGGAAAAGGAGAGGCTGAGAACCCCGAACTAGTCCCTACCTTCAGGCCTGCACCCTACTTTTAGGCCTCAACACCCTCCCTACTCAGACCTTGCCAGTAGCCGGCTCCCATCCCCAGCCCTGACCTTAGCTCCTCCTCCCAGGGAATGCAGGTGTCTACTCTGGCAGGCCCTACTTTAGACATTTTGTAAAGACTTTTCTTGTTTCTTCCAGCAAGTCTGCTTCTTGCGGGAATATTTAGCCCTTCTCTGAGGCTTCCTGTCCCCGGCTCACATTCCTCAAAAACCCTGTGTGCTCCTGCTCAGAACTCAGCACCTTCTGGGAAGCCAGTGTCATCCAGGACCTCTGCATTTCCCCACCCCTTAGGCCCCAACCCTAACGCAAAGCTTCAAAGTCCAGGCCTCCATGCAGCCCTCCAACTCTGGCCCCCAGAGTTCCAGCCTCCCAAGTTCCCTGAGGCCCCTGGTCCCCCAGGCCCTCGGATCTCTGCCCTTTATACCCTCAGCCCCCAGTCTCTAAGGCCAAGACCCCACTAGCTCTCCCACCGGGCCTGGTGCCTGTCCTTCCCCTGCCCCCAGCCGTGCCCCCGGCCCTCACCCACGCGGAAGCCGGAGCCCGTGAGCGTGTCTGTGCTGTGGCCGTTCTCTCCGATGAGCGTCATGTTGGAGCCCTGCTGACAACTGTCCCGACACTGGCCCTTGAGACAGGTCCGCTTGCAGATCACCGGCGCAAAGACCACCTTGAAGCGCTCGCGGGCCAGCGCCCCGCCCCCGCCTGCGCCCCGCTCGCCGGCCGGCCCCCCCTCGACCCTGCCGCCCAGGCCCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCGCCAGCAGCCCCGCCGCCCCCGCCCCGCGCATCTCAGGGGCCAGGCCGCCAGCAGCCCCTCGGGGCCCGGGCATCCGGGGCCGCAGGACCCGGGGGAGGGGGGGCGCGCCCGGGCGGGGCGAGGGGCCCGCGCCCGAAGGGAGTAGAGGGCCGGGAGCCCCGGGAGAGGGTAGGGGGCAGCGAGGGAGGGCAGCGGGGGAAGCGGGCGGGAGGGGACCGCGGGGGCCCGGCGGGAGGCGCGGAGATGCAGACTGGACAGCGGGGAGCGCAGAAACTTCCCAGCCCCAGGACGAAGCCCAGACCAGGCCCCGAACTCAGGCAGGAGCGAGGAGGCCGGAGCAAGTTGAGGCGGAGAGGAGGAGCGAGGGAGAGGAAGGCCGGGCGGCCGGCCCGCTCCGCGCCTCCCCCTGGCCGGGCTCCTCTCCCGCGGCCGCGGGGAGGCAGGGAGCGCGCGGGGAGGGCTCAGGGAGAAGTGAGCAGTTGTTTTCCCTGGCTGGAGCGCGGCGCGGCGGCGGCGAGGGGGGCTGGGACGCTGGCCCCGGGCCAGGGACACAGTTTTTTTTTTTTTGTTGTTTAAAGCGTCGCCTCTGCCGCCTGGAGAAGCGAGGGTGTGCAGGCTGGCGGAGGCTGGGGGGTGGCGCGGGGACAGTCCCCACCCCAGATGCCCGCCCCCGCCGGAACCCGCGGCCGCGCTGGGCCCTTTCCAGAGGGCCCTCACCTGGGACCGTCTGGCCGGCCGCGGATTCCTCCGGGCGGGGCGGGGCGGGGAGGCCTGCGTAGAGCGAGATACCGAGGCTGAGGGAGAGAGGTGGCCCTGCCGGGTCACACTGACGATGGAGGCCGGGTGGAGCCGGAGCCCAGGCCTTCCAGCTCTTTCCCAGCCTCCCTTGCAAACGTGGGGGTCTCAGGGCCCCAAAGTAACTTCTCGTTAGTGCTGGTCCAATCCCCTCTGAGGAAAGGGCTAAAGGGTGGGGACAGCCTTTGGCCAGGGCTCACGGAGGTCCCAGGAGGAAGTCTGTGGGGTCCAGAAGAGGAGCAGAAAGAACAAAGCTAGAACCCAGCTTCCCTGCCAGCCCCCTCGGAATGGCTTCCTGGTGCCCACCCTGCCACCTCCCCCCTTTCCTTTCGTCTGGCCGTGCTGGCGGGGCTGGCTCTGGGCCTCAGACACTCTGGAATCGCCAAGGTCTGAGCTCAGGGCCTGGCCCCCTTCCCAGGCTAACAGCCGGGAGGACGGGGGCGCTGTCCGAGGGCCCAGGGGCTGGAGAGGGGCACAGCAGAGCCCCAGGGCAGGGGCTGGCAGCGGCTGGGGGTGGGGGTCTTCAGGTTGGCCATGGCTGGAGAGGAGCATAGTTCCAGACCAGGCTTGTCCGCTGGTCTGGAAGGAAAGGCTGCAACGTGCGGGGGCCCAGGCCTTACTGTGGGGCCTGCCAGGAGACCCCAGGGTTCCGTCTCTGACTCACAGAACTCAGCAGGAGGTGGGGACGGCTAGGGCACATCCAGGAAAAGCGCTGCCAAGTCAGGGCGGCACCAGACCCTCTCCCGGACAGCACCCGGGGCAGCAGTCTAATTGGGGAGAGGAGGTTCAGGGACTCACTTTCAGGCACACCTGTCCAAGGAACTCTGTTTTTACTTTGAGCGTAAGTTGATGTGGGTAGCTTTAGGGGGACGCTTAGTAAGTCCCCCTTACTAAGCGGTGCAGGGCTGGGAGGGACAATCACATGTCCCCAGGGATCCCTGCTGCCGGAATCCAGGATGGGGTGTGAGGGGCAAGCCCCTGCTTCTTGGGGCCCTGGTCCACACGGAGGCAGGGAATAATGCTAGGTGCCGACCACCTGCCAGGCACAGGGCTGAGCATTGTATACTCATTTTTTCCTAACACTCATCTGAACCTGTCCTGACTCTGCCTAGAGCTGGCTGTGGCTCACCATGGAGCACAGCACAGTCAAACAGTCCAGGGTTGGATTCTTACTGTCTCTAAGCCCCAGTTTCCTTGCTTGTGAGATGGGTATCTATTCA | AGGGCAGGAGGGCAGGAGGGCGGGGGTGCTGCTCTCCTGGATGCCAGAAGGGCCTCACAGGGACAGCCCATATCCATGGCCCTCAGGGTCAGGCTAAGCACATCCCAGCCCAGCCCATCCTGCCTGGCCTCTTGGGGCCAGGCCTCACAGAGCAGAGGGGTGTGTCCTGGGCGGGGGGAGGTAGGATTCTCTTTTTCCTTTCTGCCAGTGAGTCACTCATAGCGGTGAGAGTGACCTCCCAATGACACCCGCCCACTGTGGCCTGGGCACCGAGCCTGGGGGATGTGGGCAGCACAGATGGAGACAGCAGCCTGGGCAGGATGGCCAGGGAGCCTGGGAGATGGACACACGTACACTCACACCCACAGTCCTCTTGTCACACACACACAGAGACTCATCCTGACACCAACACAGGTTCACATAAACATTCCCATACATTTGGCCGGGCGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTAGATCACTCGAGATCAGGAGTTTGAGACCAGGCTGACCAACATGGTGAAACTCCATCTCTACTAAATACAAAAAAATTGGCCAGGCGTGGTGGCGCATGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGAAGGGGGAGGTTGCAGTGAGCTGAGATTGCGCCATTGCACTCCAGCCTGGGTAACAAGAGCAAAACTCCATCTCAAAAACACAAAAACAAAAACATTCCCACATACTCTCTAACAGCGACTAGAGACACACACCCAAGACAACACAAAGACGGGTACTTCACAGTGTGCCACGCCATGCCCATGGCATGACCCCAGACACAGGGGCAATATGCGCACAGACACACGCACGCACACCCCATCTCATGACAAATTTGAGCCACATGAGTGGGGTTCCTTAGCTCTGTGAGTGGGAGAGTGAATATAGGAATGTGTAAGAGGGGCTGTTTTGCTGGTGCCATCCTGGGCCTGGCCTAATTACCCTGTCCAGGAGGGTAATTACTGCTGGGACACCTCCCCGAGCCTGGCCCACGGGGCCTAGCAGGAGGATGACTGAGCCCCAGGCCTGGCCCTTTAAAGAGAGATGCTGGGGAGGGGGTGGACTCCAAGCTGAACTGGGGAGGGTGTAGGGGCTTGGGGGAGGATGAGGGGGGCCCTGAGGGCCTCTGAGGCAGGATGTTAGGAGCTTATGGGGAGGCATTGGAAAAGGAGAGGCTGAGAACCCCGAACTAGTCCCTACCTTCAGGCCTGCACCCTACTTTTAGGCCTCAACACCCTCCCTACTCAGACCTTGCCAGTAGCCGGCTCCCATCCCCAGCCCTGACCTTAGCTCCTCCTCCCAGGGAATGCAGGTGTCTACTCTGGCAGGCCCTACTTTAGACATTTTGTAAAGACTTTTCTTGTTTCTTCCAGCAAGTCTGCTTCTTGCGGGAATATTTAGCCCTTCTCTGAGGCTTCCTGTCCCCGGCTCACATTCCTCAAAAACCCTGTGTGCTCCTGCTCAGAACTCAGCACCTTCTGGGAAGCCAGTGTCATCCAGGACCTCTGCATTTCCCCACCCCTTAGGCCCCAACCCTAACGCAAAGCTTCAAAGTCCAGGCCTCCATGCAGCCCTCCAACTCTGGCCCCCAGAGTTCCAGCCTCCCAAGTTCCCTGAGGCCCCTGGTCCCCCAGGCCCTCGGATCTCTGCCCTTTATACCCTCAGCCCCCAGTCTCTAAGGCCAAGACCCCACTAGCTCTCCCACCGGGCCTGGTGCCTGTCCTTCCCCTGCCCCCAGCCGTGCCCCCGGCCCTCACCCACGCGGAAGCCGGAGCCCGTGAGCGTGTCTGTGCTGTGGCCGTTCTCTCCGATGAGCGTCATGTTGGAGCCCTGCTGACAACTGTCCCGACACTGGCCCTTGAGACAGGTCCGCTTGCAGATCACCGGCGCAAAGACCACCTTGAAGCGCTCGCGGGCCAGCGCCCCGCCCCCGCCTGCGCCCCGCTCGCCGGCCGGCCCCCCCTCGACCCTGCCGCCCAGGCCCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCGCCAGCAGCCCCGCCGCCCCCGCCCCGCGCATCTCAGGGGCCAGGCCGCCAGCAGCCCCTCGGGGCCCGGGCATCCGGGGCCGCAGGACCCGGGGGAGGGGGGGCGCGCCCGGGCGGGGCGAGGGGCCCGCGCCCGAAGGGAGTAGAGGGCCGGGAGCCCCGGGAGAGGGTAGGGGGCAGCGAGGGAGGGCAGCGGGGGAAGCGGGCGGGAGGGGACCGCGGGGGCCCGGCGGGAGGCGCGGAGATGCAGACTGGACAGCGGGGAGCGCAGAAACTTCCCAGCCCCAGGACGAAGCCCAGACCAGGCCCCGAACTCAGGCAGGAGCGAGGAGGCCGGAGCAAGTTGAGGCGGAGAGGAGGAGCGAGGGAGAGGAAGGCCGGGCGGCCGGCCCGCTCCGCGCCTCCCCCTGGCCGGGCTCCTCTCCCGCGGCCGCGGGGAGGCAGGGAGCGCGCGGGGAGGGCTCAGGGAGAAGTGAGCAGTTGTTTTCCCTGGCTGGAGCGCGGCGCGGCGGCGGCGAGGGGGGCTGGGACGCTGGCCCCGGGCCAGGGACACAGTTTTTTTTTTTTTGTTGTTTAAAGCGTCGCCTCTGCCGCCTGGAGAAGCGAGGGTGTGCAGGCTGGCGGAGGCTGGGGGGTGGCGCGGGGACAGTCCCCACCCCAGATGCCCGCCCCCGCCGGAACCCGCGGCCGCGCTGGGCCCTTTCCAGAGGGCCCTCACCTGGGACCGTCTGGCCGGCCGCGGATTCCTCCGGGCGGGGCGGGGCGGGGAGGCCTGCGTAGAGCGAGATACCGAGGCTGAGGGAGAGAGGTGGCCCTGCCGGGTCACACTGACGATGGAGGCCGGGTGGAGCCGGAGCCCAGGCCTTCCAGCTCTTTCCCAGCCTCCCTTGCAAACGTGGGGGTCTCAGGGCCCCAAAGTAACTTCTCGTTAGTGCTGGTCCAATCCCCTCTGAGGAAAGGGCTAAAGGGTGGGGACAGCCTTTGGCCAGGGCTCACGGAGGTCCCAGGAGGAAGTCTGTGGGGTCCAGAAGAGGAGCAGAAAGAACAAAGCTAGAACCCAGCTTCCCTGCCAGCCCCCTCGGAATGGCTTCCTGGTGCCCACCCTGCCACCTCCCCCCTTTCCTTTCGTCTGGCCGTGCTGGCGGGGCTGGCTCTGGGCCTCAGACACTCTGGAATCGCCAAGGTCTGAGCTCAGGGCCTGGCCCCCTTCCCAGGCTAACAGCCGGGAGGACGGGGGCGCTGTCCGAGGGCCCAGGGGCTGGAGAGGGGCACAGCAGAGCCCCAGGGCAGGGGCTGGCAGCGGCTGGGGGTGGGGGTCTTCAGGTTGGCCATGGCTGGAGAGGAGCATAGTTCCAGACCAGGCTTGTCCGCTGGTCTGGAAGGAAAGGCTGCAACGTGCGGGGGCCCAGGCCTTACTGTGGGGCCTGCCAGGAGACCCCAGGGTTCCGTCTCTGACTCACAGAACTCAGCAGGAGGTGGGGACGGCTAGGGCACATCCAGGAAAAGCGCTGCCAAGTCAGGGCGGCACCAGACCCTCTCCCGGACAGCACCCGGGGCAGCAGTCTAATTGGGGAGAGGAGGTTCAGGGACTCACTTTCAGGCACACCTGTCCAAGGAACTCTGTTTTTACTTTGAGCGTAAGTTGATGTGGGTAGCTTTAGGGGGACGCTTAGTAAGTCCCCCTTACTAAGCGGTGCAGGGCTGGGAGGGACAATCACATGTCCCCAGGGATCCCTGCTGCCGGAATCCAGGATGGGGTGTGAGGGGCAAGCCCCTGCTTCTTGGGGCCCTGGTCCACACGGAGGCAGGGAATAATGCTAGGTGCCGACCACCTGCCAGGCACAGGGCTGAGCATTGTATACTCATTTTTTCCTAACACTCATCTGAACCTGTCCTGACTCTGCCTAGAGCTGGCTGTGGCTCACCATGGAGCACAGCACAGTCAAACAGTCCAGGGTTGGATTCTTACTGTCTCTAAGCCCCAGTTTCCTTGCTTGTGAGATGGGTATCTAT | benign | 178,460 |
Gene LTBP3 (latent transforming growth factor beta binding protein 3) variant at chromosome 11, position 65557854—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | benign | AGGGCAGGAGGGCAGGAGGGCGGGGGTGCTGCTCTCCTGGATGCCAGAAGGGCCTCACAGGGACAGCCCATATCCATGGCCCTCAGGGTCAGGCTAAGCACATCCCAGCCCAGCCCATCCTGCCTGGCCTCTTGGGGCCAGGCCTCACAGAGCAGAGGGGTGTGTCCTGGGCGGGGGGAGGTAGGATTCTCTTTTTCCTTTCTGCCAGTGAGTCACTCATAGCGGTGAGAGTGACCTCCCAATGACACCCGCCCACTGTGGCCTGGGCACCGAGCCTGGGGGATGTGGGCAGCACAGATGGAGACAGCAGCCTGGGCAGGATGGCCAGGGAGCCTGGGAGATGGACACACGTACACTCACACCCACAGTCCTCTTGTCACACACACACAGAGACTCATCCTGACACCAACACAGGTTCACATAAACATTCCCATACATTTGGCCGGGCGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTAGATCACTCGAGATCAGGAGTTTGAGACCAGGCTGACCAACATGGTGAAACTCCATCTCTACTAAATACAAAAAAATTGGCCAGGCGTGGTGGCGCATGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGAAGGGGGAGGTTGCAGTGAGCTGAGATTGCGCCATTGCACTCCAGCCTGGGTAACAAGAGCAAAACTCCATCTCAAAAACACAAAAACAAAAACATTCCCACATACTCTCTAACAGCGACTAGAGACACACACCCAAGACAACACAAAGACGGGTACTTCACAGTGTGCCACGCCATGCCCATGGCATGACCCCAGACACAGGGGCAATATGCGCACAGACACACGCACGCACACCCCATCTCATGACAAATTTGAGCCACATGAGTGGGGTTCCTTAGCTCTGTGAGTGGGAGAGTGAATATAGGAATGTGTAAGAGGGGCTGTTTTGCTGGTGCCATCCTGGGCCTGGCCTAATTACCCTGTCCAGGAGGGTAATTACTGCTGGGACACCTCCCCGAGCCTGGCCCACGGGGCCTAGCAGGAGGATGACTGAGCCCCAGGCCTGGCCCTTTAAAGAGAGATGCTGGGGAGGGGGTGGACTCCAAGCTGAACTGGGGAGGGTGTAGGGGCTTGGGGGAGGATGAGGGGGGCCCTGAGGGCCTCTGAGGCAGGATGTTAGGAGCTTATGGGGAGGCATTGGAAAAGGAGAGGCTGAGAACCCCGAACTAGTCCCTACCTTCAGGCCTGCACCCTACTTTTAGGCCTCAACACCCTCCCTACTCAGACCTTGCCAGTAGCCGGCTCCCATCCCCAGCCCTGACCTTAGCTCCTCCTCCCAGGGAATGCAGGTGTCTACTCTGGCAGGCCCTACTTTAGACATTTTGTAAAGACTTTTCTTGTTTCTTCCAGCAAGTCTGCTTCTTGCGGGAATATTTAGCCCTTCTCTGAGGCTTCCTGTCCCCGGCTCACATTCCTCAAAAACCCTGTGTGCTCCTGCTCAGAACTCAGCACCTTCTGGGAAGCCAGTGTCATCCAGGACCTCTGCATTTCCCCACCCCTTAGGCCCCAACCCTAACGCAAAGCTTCAAAGTCCAGGCCTCCATGCAGCCCTCCAACTCTGGCCCCCAGAGTTCCAGCCTCCCAAGTTCCCTGAGGCCCCTGGTCCCCCAGGCCCTCGGATCTCTGCCCTTTATACCCTCAGCCCCCAGTCTCTAAGGCCAAGACCCCACTAGCTCTCCCACCGGGCCTGGTGCCTGTCCTTCCCCTGCCCCCAGCCGTGCCCCCGGCCCTCACCCACGCGGAAGCCGGAGCCCGTGAGCGTGTCTGTGCTGTGGCCGTTCTCTCCGATGAGCGTCATGTTGGAGCCCTGCTGACAACTGTCCCGACACTGGCCCTTGAGACAGGTCCGCTTGCAGATCACCGGCGCAAAGACCACCTTGAAGCGCTCGCGGGCCAGCGCCCCGCCCCCGCCTGCGCCCCGCTCGCCGGCCGGCCCCCCCTCGACCCTGCCGCCCAGGCCCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCGCCAGCAGCCCCGCCGCCCCCGCCCCGCGCATCTCAGGGGCCAGGCCGCCAGCAGCCCCTCGGGGCCCGGGCATCCGGGGCCGCAGGACCCGGGGGAGGGGGGGCGCGCCCGGGCGGGGCGAGGGGCCCGCGCCCGAAGGGAGTAGAGGGCCGGGAGCCCCGGGAGAGGGTAGGGGGCAGCGAGGGAGGGCAGCGGGGGAAGCGGGCGGGAGGGGACCGCGGGGGCCCGGCGGGAGGCGCGGAGATGCAGACTGGACAGCGGGGAGCGCAGAAACTTCCCAGCCCCAGGACGAAGCCCAGACCAGGCCCCGAACTCAGGCAGGAGCGAGGAGGCCGGAGCAAGTTGAGGCGGAGAGGAGGAGCGAGGGAGAGGAAGGCCGGGCGGCCGGCCCGCTCCGCGCCTCCCCCTGGCCGGGCTCCTCTCCCGCGGCCGCGGGGAGGCAGGGAGCGCGCGGGGAGGGCTCAGGGAGAAGTGAGCAGTTGTTTTCCCTGGCTGGAGCGCGGCGCGGCGGCGGCGAGGGGGGCTGGGACGCTGGCCCCGGGCCAGGGACACAGTTTTTTTTTTTTTGTTGTTTAAAGCGTCGCCTCTGCCGCCTGGAGAAGCGAGGGTGTGCAGGCTGGCGGAGGCTGGGGGGTGGCGCGGGGACAGTCCCCACCCCAGATGCCCGCCCCCGCCGGAACCCGCGGCCGCGCTGGGCCCTTTCCAGAGGGCCCTCACCTGGGACCGTCTGGCCGGCCGCGGATTCCTCCGGGCGGGGCGGGGCGGGGAGGCCTGCGTAGAGCGAGATACCGAGGCTGAGGGAGAGAGGTGGCCCTGCCGGGTCACACTGACGATGGAGGCCGGGTGGAGCCGGAGCCCAGGCCTTCCAGCTCTTTCCCAGCCTCCCTTGCAAACGTGGGGGTCTCAGGGCCCCAAAGTAACTTCTCGTTAGTGCTGGTCCAATCCCCTCTGAGGAAAGGGCTAAAGGGTGGGGACAGCCTTTGGCCAGGGCTCACGGAGGTCCCAGGAGGAAGTCTGTGGGGTCCAGAAGAGGAGCAGAAAGAACAAAGCTAGAACCCAGCTTCCCTGCCAGCCCCCTCGGAATGGCTTCCTGGTGCCCACCCTGCCACCTCCCCCCTTTCCTTTCGTCTGGCCGTGCTGGCGGGGCTGGCTCTGGGCCTCAGACACTCTGGAATCGCCAAGGTCTGAGCTCAGGGCCTGGCCCCCTTCCCAGGCTAACAGCCGGGAGGACGGGGGCGCTGTCCGAGGGCCCAGGGGCTGGAGAGGGGCACAGCAGAGCCCCAGGGCAGGGGCTGGCAGCGGCTGGGGGTGGGGGTCTTCAGGTTGGCCATGGCTGGAGAGGAGCATAGTTCCAGACCAGGCTTGTCCGCTGGTCTGGAAGGAAAGGCTGCAACGTGCGGGGGCCCAGGCCTTACTGTGGGGCCTGCCAGGAGACCCCAGGGTTCCGTCTCTGACTCACAGAACTCAGCAGGAGGTGGGGACGGCTAGGGCACATCCAGGAAAAGCGCTGCCAAGTCAGGGCGGCACCAGACCCTCTCCCGGACAGCACCCGGGGCAGCAGTCTAATTGGGGAGAGGAGGTTCAGGGACTCACTTTCAGGCACACCTGTCCAAGGAACTCTGTTTTTACTTTGAGCGTAAGTTGATGTGGGTAGCTTTAGGGGGACGCTTAGTAAGTCCCCCTTACTAAGCGGTGCAGGGCTGGGAGGGACAATCACATGTCCCCAGGGATCCCTGCTGCCGGAATCCAGGATGGGGTGTGAGGGGCAAGCCCCTGCTTCTTGGGGCCCTGGTCCACACGGAGGCAGGGAATAATGCTAGGTGCCGACCACCTGCCAGGCACAGGGCTGAGCATTGTATACTCATTTTTTCCTAACACTCATCTGAACCTGTCCTGACTCTGCCTAGAGCTGGCTGTGGCTCACCATGGAGCACAGCACAGTCAAACAGTCCAGGGTTGGATTCTTACTGTCTCTAAGCCCCAGTTTCCTTGCTTGTGAGATGGGTATCTATTCA | AGGGCAGGAGGGCAGGAGGGCGGGGGTGCTGCTCTCCTGGATGCCAGAAGGGCCTCACAGGGACAGCCCATATCCATGGCCCTCAGGGTCAGGCTAAGCACATCCCAGCCCAGCCCATCCTGCCTGGCCTCTTGGGGCCAGGCCTCACAGAGCAGAGGGGTGTGTCCTGGGCGGGGGGAGGTAGGATTCTCTTTTTCCTTTCTGCCAGTGAGTCACTCATAGCGGTGAGAGTGACCTCCCAATGACACCCGCCCACTGTGGCCTGGGCACCGAGCCTGGGGGATGTGGGCAGCACAGATGGAGACAGCAGCCTGGGCAGGATGGCCAGGGAGCCTGGGAGATGGACACACGTACACTCACACCCACAGTCCTCTTGTCACACACACACAGAGACTCATCCTGACACCAACACAGGTTCACATAAACATTCCCATACATTTGGCCGGGCGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTAGATCACTCGAGATCAGGAGTTTGAGACCAGGCTGACCAACATGGTGAAACTCCATCTCTACTAAATACAAAAAAATTGGCCAGGCGTGGTGGCGCATGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGAAGGGGGAGGTTGCAGTGAGCTGAGATTGCGCCATTGCACTCCAGCCTGGGTAACAAGAGCAAAACTCCATCTCAAAAACACAAAAACAAAAACATTCCCACATACTCTCTAACAGCGACTAGAGACACACACCCAAGACAACACAAAGACGGGTACTTCACAGTGTGCCACGCCATGCCCATGGCATGACCCCAGACACAGGGGCAATATGCGCACAGACACACGCACGCACACCCCATCTCATGACAAATTTGAGCCACATGAGTGGGGTTCCTTAGCTCTGTGAGTGGGAGAGTGAATATAGGAATGTGTAAGAGGGGCTGTTTTGCTGGTGCCATCCTGGGCCTGGCCTAATTACCCTGTCCAGGAGGGTAATTACTGCTGGGACACCTCCCCGAGCCTGGCCCACGGGGCCTAGCAGGAGGATGACTGAGCCCCAGGCCTGGCCCTTTAAAGAGAGATGCTGGGGAGGGGGTGGACTCCAAGCTGAACTGGGGAGGGTGTAGGGGCTTGGGGGAGGATGAGGGGGGCCCTGAGGGCCTCTGAGGCAGGATGTTAGGAGCTTATGGGGAGGCATTGGAAAAGGAGAGGCTGAGAACCCCGAACTAGTCCCTACCTTCAGGCCTGCACCCTACTTTTAGGCCTCAACACCCTCCCTACTCAGACCTTGCCAGTAGCCGGCTCCCATCCCCAGCCCTGACCTTAGCTCCTCCTCCCAGGGAATGCAGGTGTCTACTCTGGCAGGCCCTACTTTAGACATTTTGTAAAGACTTTTCTTGTTTCTTCCAGCAAGTCTGCTTCTTGCGGGAATATTTAGCCCTTCTCTGAGGCTTCCTGTCCCCGGCTCACATTCCTCAAAAACCCTGTGTGCTCCTGCTCAGAACTCAGCACCTTCTGGGAAGCCAGTGTCATCCAGGACCTCTGCATTTCCCCACCCCTTAGGCCCCAACCCTAACGCAAAGCTTCAAAGTCCAGGCCTCCATGCAGCCCTCCAACTCTGGCCCCCAGAGTTCCAGCCTCCCAAGTTCCCTGAGGCCCCTGGTCCCCCAGGCCCTCGGATCTCTGCCCTTTATACCCTCAGCCCCCAGTCTCTAAGGCCAAGACCCCACTAGCTCTCCCACCGGGCCTGGTGCCTGTCCTTCCCCTGCCCCCAGCCGTGCCCCCGGCCCTCACCCACGCGGAAGCCGGAGCCCGTGAGCGTGTCTGTGCTGTGGCCGTTCTCTCCGATGAGCGTCATGTTGGAGCCCTGCTGACAACTGTCCCGACACTGGCCCTTGAGACAGGTCCGCTTGCAGATCACCGGCGCAAAGACCACCTTGAAGCGCTCGCGGGCCAGCGCCCCGCCCCCGCCTGCGCCCCGCTCGCCGGCCGGCCCCCCCTCGACCCTGCCGCCCAGGCCCAGCAGCAGCAGCAGCAGCAGCAGCAGCGCCAGCAGCCCCGCCGCCCCCGCCCCGCGCATCTCAGGGGCCAGGCCGCCAGCAGCCCCTCGGGGCCCGGGCATCCGGGGCCGCAGGACCCGGGGGAGGGGGGGCGCGCCCGGGCGGGGCGAGGGGCCCGCGCCCGAAGGGAGTAGAGGGCCGGGAGCCCCGGGAGAGGGTAGGGGGCAGCGAGGGAGGGCAGCGGGGGAAGCGGGCGGGAGGGGACCGCGGGGGCCCGGCGGGAGGCGCGGAGATGCAGACTGGACAGCGGGGAGCGCAGAAACTTCCCAGCCCCAGGACGAAGCCCAGACCAGGCCCCGAACTCAGGCAGGAGCGAGGAGGCCGGAGCAAGTTGAGGCGGAGAGGAGGAGCGAGGGAGAGGAAGGCCGGGCGGCCGGCCCGCTCCGCGCCTCCCCCTGGCCGGGCTCCTCTCCCGCGGCCGCGGGGAGGCAGGGAGCGCGCGGGGAGGGCTCAGGGAGAAGTGAGCAGTTGTTTTCCCTGGCTGGAGCGCGGCGCGGCGGCGGCGAGGGGGGCTGGGACGCTGGCCCCGGGCCAGGGACACAGTTTTTTTTTTTTTGTTGTTTAAAGCGTCGCCTCTGCCGCCTGGAGAAGCGAGGGTGTGCAGGCTGGCGGAGGCTGGGGGGTGGCGCGGGGACAGTCCCCACCCCAGATGCCCGCCCCCGCCGGAACCCGCGGCCGCGCTGGGCCCTTTCCAGAGGGCCCTCACCTGGGACCGTCTGGCCGGCCGCGGATTCCTCCGGGCGGGGCGGGGCGGGGAGGCCTGCGTAGAGCGAGATACCGAGGCTGAGGGAGAGAGGTGGCCCTGCCGGGTCACACTGACGATGGAGGCCGGGTGGAGCCGGAGCCCAGGCCTTCCAGCTCTTTCCCAGCCTCCCTTGCAAACGTGGGGGTCTCAGGGCCCCAAAGTAACTTCTCGTTAGTGCTGGTCCAATCCCCTCTGAGGAAAGGGCTAAAGGGTGGGGACAGCCTTTGGCCAGGGCTCACGGAGGTCCCAGGAGGAAGTCTGTGGGGTCCAGAAGAGGAGCAGAAAGAACAAAGCTAGAACCCAGCTTCCCTGCCAGCCCCCTCGGAATGGCTTCCTGGTGCCCACCCTGCCACCTCCCCCCTTTCCTTTCGTCTGGCCGTGCTGGCGGGGCTGGCTCTGGGCCTCAGACACTCTGGAATCGCCAAGGTCTGAGCTCAGGGCCTGGCCCCCTTCCCAGGCTAACAGCCGGGAGGACGGGGGCGCTGTCCGAGGGCCCAGGGGCTGGAGAGGGGCACAGCAGAGCCCCAGGGCAGGGGCTGGCAGCGGCTGGGGGTGGGGGTCTTCAGGTTGGCCATGGCTGGAGAGGAGCATAGTTCCAGACCAGGCTTGTCCGCTGGTCTGGAAGGAAAGGCTGCAACGTGCGGGGGCCCAGGCCTTACTGTGGGGCCTGCCAGGAGACCCCAGGGTTCCGTCTCTGACTCACAGAACTCAGCAGGAGGTGGGGACGGCTAGGGCACATCCAGGAAAAGCGCTGCCAAGTCAGGGCGGCACCAGACCCTCTCCCGGACAGCACCCGGGGCAGCAGTCTAATTGGGGAGAGGAGGTTCAGGGACTCACTTTCAGGCACACCTGTCCAAGGAACTCTGTTTTTACTTTGAGCGTAAGTTGATGTGGGTAGCTTTAGGGGGACGCTTAGTAAGTCCCCCTTACTAAGCGGTGCAGGGCTGGGAGGGACAATCACATGTCCCCAGGGATCCCTGCTGCCGGAATCCAGGATGGGGTGTGAGGGGCAAGCCCCTGCTTCTTGGGGCCCTGGTCCACACGGAGGCAGGGAATAATGCTAGGTGCCGACCACCTGCCAGGCACAGGGCTGAGCATTGTATACTCATTTTTTCCTAACACTCATCTGAACCTGTCCTGACTCTGCCTAGAGCTGGCTGTGGCTCACCATGGAGCACAGCACAGTCAAACAGTCCAGGGTTGGATTCTTACTGTCTCTAAGCCCCAGTTTCCTTGCTTGTGAGATGGGTATCTATTCANNN | benign | 178,461 |
Is chromosome 11, position 65718834, gene KAT5 variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | benign | CATCGTGGGCTACTTCTCCAAGGTCAGTGCCTGCCCAAGCTGTCCCTGTGCCCTGTCCTGAGCCAGATCCCTTCCCTGACACTCACCTGTCCCCCTTCTCCAGGAGAAAGAATCAACGGAAGACTACAATGTGGCCTGCATCCTAACCCTGCCTCCCTACCAGCGCCGGGGCTACGGCAAGCTGCTGATCGAGTTCAGTGAGTATGTGTGCTGCGGCCAGGGGGTAGTGGACCCACTATCGGTGCCTCACAGGCAGATGGGCCAGGCTACTGTGATTCTCAACCCTGGCTGTGCAGCCCAGCCTCTAGGGGAACCAGCCAGAAATAACAGTGGCACTCTCCCGGGGTTCTCTCCGTTCAGGCTGACTGCCCTGCTTATCTGGGGTAGGTTCTCAGCCCCCCAGTTTGCTCCTTGGCCAGGGTTCTAAGTGCCACTCAGCTTTCCCCAAATCTGACTTACGTGCTCCTGCCTGGAGCCATGGGCAGAAGGTTAGTGAGCCGCTGGTGCTGATGTATCTGGTAACGTGTGCCATGATACGAGTACTGGGGCAAGGACCAGTGGCTAATGTCCCCAGTTGTCCCCTGAGCCTTGCAGGCAGGTATCCAAAATGCTGTCAGCAGATAGACATAAGCATGTTGTCCCTCGCTCCTTGTGTCCAGTGAGGTCAGTCTCTTAAAGCCAGAAGGGACTCTGAACTTCATCACACATGGGCTCTTCAGTGCCCTCCCCAACCCTGAGGCCCCTTCTTCCCAGCCTCTTACTCCCCATCACCCCCCATTCTGTCTGTCTCACCACTCACTTGGAATAACCAAGCTCTGACCTGAGAAACAAGGAGGAAGTTCTAGCTGTTGACCTGGTGAAGACACAGAGGCTTTACCTGATCAAGGTTATGGTCCATTCGAGAAATTTTATTGGTTAAATGATGCCCAGATGGGGTCACATCCTCAGAACTTCTCAGCCTGGTAGCACAAGTGGATGCTTGAAGAAACTCAGTCTTGGAACTCAGACAGCAATGGAGACGGGATGTGAGTGGGACCAGCAAGGGGCTAAGGTCCATTATGAGGGTGAGGAAGGGCTTCTAGAAGTAACAAACATCCCAGGTCCCTGACTGGGGAGAATGAAGACACTGACCAAGAGATGTGAAGCCACTCAGGGCTGTGCAGGGTCTGAGGATCTCACTGGGGACGGCCTCCCAGCGGCCAGCTATCAGCACGAGTTGGAGGGAAAGAGCCATGGTGGGGGTCAGTCACGTGGCTCCCAGGAATGGTCTCCCCGACTTAGGAAGCACCTTGGTGCACCTTTTCTCCTTGCATCCTCACAACCACCCAGTCAGGCCACTCAAGTCTTACAGCAGGTGACACTCCCAAGGTCCCAGCTAGGAGGACTTTGAGAATTCAAGCATTCTCAGGTCTGGATTAGAGACAGGAATCTGTCTCCACTTCCTTACATGGCTAGACACAGAGCCCGGGATGGCAAAGGAAAATTGGAGGCCCCTTCTTCCCATGAGCCATTTTCTCTGCATCCCCTGCCCATAAGCCTTCACTGGCCTCTGATCACCCTCATGGTTGACTGCAGCTGCTCCTCTCAGTGCCCTCATGCCCTCCACTGTGCTCAGCGCACGGAAAGAGTGAATACTCAGTTCTTCCTGAGGGAACTGAGGCACAGAGAAGTGGAGGGCATAGAACTGCCAAGTGGCAGGGCCATGATAGGAACTAGGCAGCCTGCCTTGGCAACCTGTGTTTTTAAATGTTGCTTATGTTCATCTGTGACCTCTTACTCACCCTCTCCTGCTCCATTGCTTTAGGCTATGAACTCTCCAAAGTGGAAGGGAAAACAGGGACCCCTGAGAAGCCCCTCTCAGACCTTGGCCTCCTATCCTATCGAAGCTACTGGTCCCAGACCATCCTGGAGATCCTGATGGGGCTGAAGTCGGAGAGCGGGGAGAGGCCACAGATCACCATCAAGTGAGCCTGGCGCTGTCTACCTGGGGGTACATGGCATGGCTTGTCTGTTCCTGGGCTTTCTCTCTCAGGGCTCCTGGGGACAGATAAAGGTCCTCAGGGAACCTGACCTGTGCTCTCCCACAGTGAGATTAGTGAAATCACCAGCATCAAGAAGGAGGATGTCATCTCCACTCTGCAGTACCTCAATCTCATCAACTACTACAAGGTAGGGAGGCAGGCAGGGGAGACAGGTGTGTGGGATGCAGAGTGCAGTCCTCTGTGGGCTGACCACCTGCTGAACCCATCTCCTCTGCCCAGGGCCAGTACATCCTCACACTGTCAGAGGACATCGTGGATGGCCATGAGCGGGCCATGCTCAAGCGGCTCCTGCGGATCGACTCCAAGTGTCTGCACTTCACTCCCAAGGACTGGAGCAAGAGGGGGAAGTGGTGACCAGACACTGCCCACTGCAGTGCCAAGACGGCAGCAGGACTGGGGCTGATAGCCCACCCCGCCCCCACTGCAGCTCCCACAAAGCACTCTAAGGGAGATGGGGCTGAGGACAGCTCAAAAAGGAGAGGACAGGCCTGGCAGGGGCCCACTGGTGCCCAGCACCAAGGCGAGCTCCGGGCTCAGACCAACTCCAAGGTCAGCTGGCCACAGGCCCAGGCCTCCTCTGAAGCAGGGACCAGAGGGAGCCAGGCAGCTGTGTACAGTGAGAAGGGATCCGGATGGGGGAGCTCTGTACAGAGGGCTGGTGATTGTAAAAATTTCTTTTGTAAAGTAGAAGTTGGGGGTGGGGTGGGTGCTGGCTGCAAAAATTTCTGGCTTCTCTTACCCCTATTGCCCCCGGCAATAAATTGTTTCTATATGCCAGAGCCATGCAAAGTTCTTGGTGGGGAGGGGGAAAGGGCCCATGCTGGCTTAGGGGCTCTAAGGCGCCCAGACTCACAGGTGCTGTGAAGAGCTCCTTTATTGGGGTGATGGAATCGGTTCCAAAGAGCTGGTTTACTGCTGTGAAGGGATCGCAGCTTTGAATTTCAAGCTCTGGTTCTCAGTCCTCGGGCACCTGTGCGTGAATCTGCAACAGGAGTCGCCTCTACTGTTGGACTTGTAAGACAGGGCGGCAAGCTGGCCCCCATACCCGAGGAAGGACCCAGCTGTTCAGAATAACCGCTTCTAGACATGCTAGGAAGAGTGGTCAGGGAGCTACGCTTCCCACACACTACCCAGTAGAATCCTCCAGGCTCCGTCTGCGCAATTGTGCTCCCCAGCCCATCCACCCGGGGGCAAGACGGAACTCCTCGTCTACTCACCGCTGCCGCAAGGCTGGGCCAAGTTAAGGCCCCACGCACTTTGGCATCCGGGCCAGGGATGGTCTCCAGACCCCACAGGGTGAAGCGGCTGAAGTTGGCAGTGGCTCCAATGAAGCGGTCCTGGGGAAGGGGCCTGGCTCAGCATCGGGACTACAGCTCCCGCCCGCACCCCCTTTCAACCCTATCCCTTTGCTCACGAAGTCCCGCTCCAGCGGCTCCTCCTCTTGGTCGTCAGTCCCGGAATCCCGCAAGGGGTCTGGCTTCCCCATCGACACCTTCTTCTCTTCTGTCACCATCACGTATCCCACGAGGCCAGGCGGCACCGCCACCTCCTCTCCCCGTAGACAGCGGCCCCGAAACGACACTTCGAGTCCTGGAGCGGGAGGCGCAAAGGGCCTCAGGCAGGACCCACGCTGGGTCGAGCCCGGAGCTGCCCTCCCGCCACCTCCGGACGGACCACGATCCCCAGGAGCCCAGGCGATGAGAAGCGCGCAGGCCGGCGCGGGGGCTGCCGGGAGCCGTAGTCCGGCCGCAGGGCTCACCCTCGGGGCCCTGGCGGATGGCGGGCGTGAAGAAGCGCCCCACCGGGGCGGGCCCGTCCACCGCAACCTCGCAGGGCAGCAGATGCAGTGTGGCGGGTACGGCGTCGCGCAATGTGGCGGAGCGCAAGTGGACGCGGTGCCTCTCGATGGCCGCTTCGTCGCCGCTCTCCATCCTCCCTCCTACGCGACGCCAGGGCTCGCGAGCTGACACTGAAGCTGGCGCGGAAAGCGCGCAGGACCTCTCAGGAAGCCTCCGCGGGGCCTCACGGGAAGCCGCCGCGGAGCTTCACGGGAA | CATCGTGGGCTACTTCTCCAAGGTCAGTGCCTGCCCAAGCTGTCCCTGTGCCCTGTCCTGAGCCAGATCCCTTCCCTGACACTCACCTGTCCCCCTTCTCCAGGAGAAAGAATCAACGGAAGACTACAATGTGGCCTGCATCCTAACCCTGCCTCCCTACCAGCGCCGGGGCTACGGCAAGCTGCTGATCGAGTTCAGTGAGTATGTGTGCTGCGGCCAGGGGGTAGTGGACCCACTATCGGTGCCTCACAGGCAGATGGGCCAGGCTACTGTGATTCTCAACCCTGGCTGTGCAGCCCAGCCTCTAGGGGAACCAGCCAGAAATAACAGTGGCACTCTCCCGGGGTTCTCTCCGTTCAGGCTGACTGCCCTGCTTATCTGGGGTAGGTTCTCAGCCCCCCAGTTTGCTCCTTGGCCAGGGTTCTAAGTGCCACTCAGCTTTCCCCAAATCTGACTTACGTGCTCCTGCCTGGAGCCATGGGCAGAAGGTTAGTGAGCCGCTGGTGCTGATGTATCTGGTAACGTGTGCCATGATACGAGTACTGGGGCAAGGACCAGTGGCTAATGTCCCCAGTTGTCCCCTGAGCCTTGCAGGCAGGTATCCAAAATGCTGTCAGCAGATAGACATAAGCATGTTGTCCCTCGCTCCTTGTGTCCAGTGAGGTCAGTCTCTTAAAGCCAGAAGGGACTCTGAACTTCATCACACATGGGCTCTTCAGTGCCCTCCCCAACCCTGAGGCCCCTTCTTCCCAGCCTCTTACTCCCCATCACCCCCCATTCTGTCTGTCTCACCACTCACTTGGAATAACCAAGCTCTGACCTGAGAAACAAGGAGGAAGTTCTAGCTGTTGACCTGGTGAAGACACAGAGGCTTTACCTGATCAAGGTTATGGTCCATTCGAGAAATTTTATTGGTTAAATGATGCCCAGATGGGGTCACATCCTCAGAACTTCTCAGCCTGGTAGCACAAGTGGATGCTTGAAGAAACTCAGTCTTGGAACTCAGACAGCAATGGAGACGGGATGTGAGTGGGACCAGCAAGGGGCTAAGGTCCATTATGAGGGTGAGGAAGGGCTTCTAGAAGTAACAAACATCCCAGGTCCCTGACTGGGGAGAATGAAGACACTGACCAAGAGATGTGAAGCCACTCAGGGCTGTGCAGGGTCTGAGGATCTCACTGGGGACGGCCTCCCAGCGGCCAGCTATCAGCACGAGTTGGAGGGAAAGAGCCATGGTGGGGGTCAGTCACGTGGCTCCCAGGAATGGTCTCCCCGACTTAGGAAGCACCTTGGTGCACCTTTTCTCCTTGCATCCTCACAACCACCCAGTCAGGCCACTCAAGTCTTACAGCAGGTGACACTCCCAAGGTCCCAGCTAGGAGGACTTTGAGAATTCAAGCATTCTCAGGTCTGGATTAGAGACAGGAATCTGTCTCCACTTCCTTACATGGCTAGACACAGAGCCCGGGATGGCAAAGGAAAATTGGAGGCCCCTTCTTCCCATGAGCCATTTTCTCTGCATCCCCTGCCCATAAGCCTTCACTGGCCTCTGATCACCCTCATGGTTGACTGCAGCTGCTCCTCTCAGTGCCCTCATGCCCTCCACTGTGCTCAGCGCACGGAAAGAGTGAATACTCAGTTCTTCCTGAGGGAACTGAGGCACAGAGAAGTGGAGGGCATAGAACTGCCAAGTGGCAGGGCCATGATAGGAACTAGGCAGCCTGCCTTGGCAACCTGTGTTTTTAAATGTTGCTTATGTTCATCTGTGACCTCTTACTCACCCTCTCCTGCTCCATTGCTTTAGGCTATGAACTCTCCAAAGTGGAAGGGAAAACAGGGACCCCTGAGAAGCCCCTCTCAGACCTTGGCCTCCTATCCTATCGAAGCTACTGGTCCCAGACCATCCTGGAGATCCTGATGGGGCTGAAGTCGGAGAGCGGGGAGAGGCCACAGATCACCATCAAGTGAGCCTGGCGCTGTCTACCTGGGGGTACATGGCATGGCTTGTCTGTTCCTGGGCTTTCTCTCTCAGGGCTCCTGGGGACAGATAAAAGGTCCTCAGGGAACCTGACCTGTGCTCTCCCACAGTGAGATTAGTGAAATCACCAGCATCAAGAAGGAGGATGTCATCTCCACTCTGCAGTACCTCAATCTCATCAACTACTACAAGGTAGGGAGGCAGGCAGGGGAGACAGGTGTGTGGGATGCAGAGTGCAGTCCTCTGTGGGCTGACCACCTGCTGAACCCATCTCCTCTGCCCAGGGCCAGTACATCCTCACACTGTCAGAGGACATCGTGGATGGCCATGAGCGGGCCATGCTCAAGCGGCTCCTGCGGATCGACTCCAAGTGTCTGCACTTCACTCCCAAGGACTGGAGCAAGAGGGGGAAGTGGTGACCAGACACTGCCCACTGCAGTGCCAAGACGGCAGCAGGACTGGGGCTGATAGCCCACCCCGCCCCCACTGCAGCTCCCACAAAGCACTCTAAGGGAGATGGGGCTGAGGACAGCTCAAAAAGGAGAGGACAGGCCTGGCAGGGGCCCACTGGTGCCCAGCACCAAGGCGAGCTCCGGGCTCAGACCAACTCCAAGGTCAGCTGGCCACAGGCCCAGGCCTCCTCTGAAGCAGGGACCAGAGGGAGCCAGGCAGCTGTGTACAGTGAGAAGGGATCCGGATGGGGGAGCTCTGTACAGAGGGCTGGTGATTGTAAAAATTTCTTTTGTAAAGTAGAAGTTGGGGGTGGGGTGGGTGCTGGCTGCAAAAATTTCTGGCTTCTCTTACCCCTATTGCCCCCGGCAATAAATTGTTTCTATATGCCAGAGCCATGCAAAGTTCTTGGTGGGGAGGGGGAAAGGGCCCATGCTGGCTTAGGGGCTCTAAGGCGCCCAGACTCACAGGTGCTGTGAAGAGCTCCTTTATTGGGGTGATGGAATCGGTTCCAAAGAGCTGGTTTACTGCTGTGAAGGGATCGCAGCTTTGAATTTCAAGCTCTGGTTCTCAGTCCTCGGGCACCTGTGCGTGAATCTGCAACAGGAGTCGCCTCTACTGTTGGACTTGTAAGACAGGGCGGCAAGCTGGCCCCCATACCCGAGGAAGGACCCAGCTGTTCAGAATAACCGCTTCTAGACATGCTAGGAAGAGTGGTCAGGGAGCTACGCTTCCCACACACTACCCAGTAGAATCCTCCAGGCTCCGTCTGCGCAATTGTGCTCCCCAGCCCATCCACCCGGGGGCAAGACGGAACTCCTCGTCTACTCACCGCTGCCGCAAGGCTGGGCCAAGTTAAGGCCCCACGCACTTTGGCATCCGGGCCAGGGATGGTCTCCAGACCCCACAGGGTGAAGCGGCTGAAGTTGGCAGTGGCTCCAATGAAGCGGTCCTGGGGAAGGGGCCTGGCTCAGCATCGGGACTACAGCTCCCGCCCGCACCCCCTTTCAACCCTATCCCTTTGCTCACGAAGTCCCGCTCCAGCGGCTCCTCCTCTTGGTCGTCAGTCCCGGAATCCCGCAAGGGGTCTGGCTTCCCCATCGACACCTTCTTCTCTTCTGTCACCATCACGTATCCCACGAGGCCAGGCGGCACCGCCACCTCCTCTCCCCGTAGACAGCGGCCCCGAAACGACACTTCGAGTCCTGGAGCGGGAGGCGCAAAGGGCCTCAGGCAGGACCCACGCTGGGTCGAGCCCGGAGCTGCCCTCCCGCCACCTCCGGACGGACCACGATCCCCAGGAGCCCAGGCGATGAGAAGCGCGCAGGCCGGCGCGGGGGCTGCCGGGAGCCGTAGTCCGGCCGCAGGGCTCACCCTCGGGGCCCTGGCGGATGGCGGGCGTGAAGAAGCGCCCCACCGGGGCGGGCCCGTCCACCGCAACCTCGCAGGGCAGCAGATGCAGTGTGGCGGGTACGGCGTCGCGCAATGTGGCGGAGCGCAAGTGGACGCGGTGCCTCTCGATGGCCGCTTCGTCGCCGCTCTCCATCCTCCCTCCTACGCGACGCCAGGGCTCGCGAGCTGACACTGAAGCTGGCGCGGAAAGCGCGCAGGACCTCTCAGGAAGCCTCCGCGGGGCCTCACGGGAAGCCGCCGCGGAGCTTCACGGGA | benign | 178,497 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 11, position 65720319, gene RNASEH2C (ribonuclease H2 subunit C). What disease(s) is it linked to if pathogenic? | benign | GGAGGCCCCTTCTTCCCATGAGCCATTTTCTCTGCATCCCCTGCCCATAAGCCTTCACTGGCCTCTGATCACCCTCATGGTTGACTGCAGCTGCTCCTCTCAGTGCCCTCATGCCCTCCACTGTGCTCAGCGCACGGAAAGAGTGAATACTCAGTTCTTCCTGAGGGAACTGAGGCACAGAGAAGTGGAGGGCATAGAACTGCCAAGTGGCAGGGCCATGATAGGAACTAGGCAGCCTGCCTTGGCAACCTGTGTTTTTAAATGTTGCTTATGTTCATCTGTGACCTCTTACTCACCCTCTCCTGCTCCATTGCTTTAGGCTATGAACTCTCCAAAGTGGAAGGGAAAACAGGGACCCCTGAGAAGCCCCTCTCAGACCTTGGCCTCCTATCCTATCGAAGCTACTGGTCCCAGACCATCCTGGAGATCCTGATGGGGCTGAAGTCGGAGAGCGGGGAGAGGCCACAGATCACCATCAAGTGAGCCTGGCGCTGTCTACCTGGGGGTACATGGCATGGCTTGTCTGTTCCTGGGCTTTCTCTCTCAGGGCTCCTGGGGACAGATAAAGGTCCTCAGGGAACCTGACCTGTGCTCTCCCACAGTGAGATTAGTGAAATCACCAGCATCAAGAAGGAGGATGTCATCTCCACTCTGCAGTACCTCAATCTCATCAACTACTACAAGGTAGGGAGGCAGGCAGGGGAGACAGGTGTGTGGGATGCAGAGTGCAGTCCTCTGTGGGCTGACCACCTGCTGAACCCATCTCCTCTGCCCAGGGCCAGTACATCCTCACACTGTCAGAGGACATCGTGGATGGCCATGAGCGGGCCATGCTCAAGCGGCTCCTGCGGATCGACTCCAAGTGTCTGCACTTCACTCCCAAGGACTGGAGCAAGAGGGGGAAGTGGTGACCAGACACTGCCCACTGCAGTGCCAAGACGGCAGCAGGACTGGGGCTGATAGCCCACCCCGCCCCCACTGCAGCTCCCACAAAGCACTCTAAGGGAGATGGGGCTGAGGACAGCTCAAAAAGGAGAGGACAGGCCTGGCAGGGGCCCACTGGTGCCCAGCACCAAGGCGAGCTCCGGGCTCAGACCAACTCCAAGGTCAGCTGGCCACAGGCCCAGGCCTCCTCTGAAGCAGGGACCAGAGGGAGCCAGGCAGCTGTGTACAGTGAGAAGGGATCCGGATGGGGGAGCTCTGTACAGAGGGCTGGTGATTGTAAAAATTTCTTTTGTAAAGTAGAAGTTGGGGGTGGGGTGGGTGCTGGCTGCAAAAATTTCTGGCTTCTCTTACCCCTATTGCCCCCGGCAATAAATTGTTTCTATATGCCAGAGCCATGCAAAGTTCTTGGTGGGGAGGGGGAAAGGGCCCATGCTGGCTTAGGGGCTCTAAGGCGCCCAGACTCACAGGTGCTGTGAAGAGCTCCTTTATTGGGGTGATGGAATCGGTTCCAAAGAGCTGGTTTACTGCTGTGAAGGGATCGCAGCTTTGAATTTCAAGCTCTGGTTCTCAGTCCTCGGGCACCTGTGCGTGAATCTGCAACAGGAGTCGCCTCTACTGTTGGACTTGTAAGACAGGGCGGCAAGCTGGCCCCCATACCCGAGGAAGGACCCAGCTGTTCAGAATAACCGCTTCTAGACATGCTAGGAAGAGTGGTCAGGGAGCTACGCTTCCCACACACTACCCAGTAGAATCCTCCAGGCTCCGTCTGCGCAATTGTGCTCCCCAGCCCATCCACCCGGGGGCAAGACGGAACTCCTCGTCTACTCACCGCTGCCGCAAGGCTGGGCCAAGTTAAGGCCCCACGCACTTTGGCATCCGGGCCAGGGATGGTCTCCAGACCCCACAGGGTGAAGCGGCTGAAGTTGGCAGTGGCTCCAATGAAGCGGTCCTGGGGAAGGGGCCTGGCTCAGCATCGGGACTACAGCTCCCGCCCGCACCCCCTTTCAACCCTATCCCTTTGCTCACGAAGTCCCGCTCCAGCGGCTCCTCCTCTTGGTCGTCAGTCCCGGAATCCCGCAAGGGGTCTGGCTTCCCCATCGACACCTTCTTCTCTTCTGTCACCATCACGTATCCCACGAGGCCAGGCGGCACCGCCACCTCCTCTCCCCGTAGACAGCGGCCCCGAAACGACACTTCGAGTCCTGGAGCGGGAGGCGCAAAGGGCCTCAGGCAGGACCCACGCTGGGTCGAGCCCGGAGCTGCCCTCCCGCCACCTCCGGACGGACCACGATCCCCAGGAGCCCAGGCGATGAGAAGCGCGCAGGCCGGCGCGGGGGCTGCCGGGAGCCGTAGTCCGGCCGCAGGGCTCACCCTCGGGGCCCTGGCGGATGGCGGGCGTGAAGAAGCGCCCCACCGGGGCGGGCCCGTCCACCGCAACCTCGCAGGGCAGCAGATGCAGTGTGGCGGGTACGGCGTCGCGCAATGTGGCGGAGCGCAAGTGGACGCGGTGCCTCTCGATGGCCGCTTCGTCGCCGCTCTCCATCCTCCCTCCTACGCGACGCCAGGGCTCGCGAGCTGACACTGAAGCTGGCGCGGAAAGCGCGCAGGACCTCTCAGGAAGCCTCCGCGGGGCCTCACGGGAAGCCGCCGCGGAGCTTCACGGGAAGTGTAGTCCCCTTACCCCCTAACGCTTTCCCTGGGTTCAAGTCCTAGGGTTTTCCAGTTGTGTTTTGTTTTTTTCCTTCCTTCCTTCCCCCCTCCCCTCTTTCCTCCCTCCCCTCTCCCCCTCTCCTTCCCCCTCCCCCCTCCTTCCCCCTCCCCCCTCCCCCTCCTCCCTGCCTCCCTTCCTTCCCCCCTTCCCTTCCCTTCCTTCCCGTCCTTCCCTCTTTCTTTCTTTTTCTTATTTATTATTATTTTTTTTTGACAGAGTCTCGTTTTGTCGCCCAGGCTGGAGTGCCAGGCACGGTCTCAGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCGGAGTAGCTGGGATTACAGGCGCACACCACCATGCCCACCTAATTTTTGTATTTTTAGTAGAGACTGGGTTTCGCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGCGATCCTCCAGCCTCGGCCTTCTGAAGTACTTGGATTACAGGCGTGAGACACCGCCCCCAGCCGGGTTTTTTTCTTTTATTGTTTTTAATGGCACATGTCGTTGTAAAAATCTAAAACGATTCTGAAAAGTACTCTTTTTATATTGATTAGTAGGTAGGTTATTCATTTTTAGTTTATTAGGGACATCAACCCTTTTCTTAAATGCATTGAAAATGTTTTATCTGTGGTCTGTCTTGCAAACCTGTGTAAAGGTGATTTTTGCTGGACAAGGACTTATTTTTGTGGTTGTTTGGTCTTTTAGACAAGGTCTCACTCGCCTAGGCTGGAGTGCAGTGGTTTGATTGGCTCACTGCAGCCTCGACCTCCCAGGCTTAATCCATCCCCCATCCTCAGCTTCCTGTGTAGCTGGAACCACAGGCCTGCGCCACCACGCAGCTAATTTTTGTATTTTTGGTAGAGGTGGAGTTTTGCCATGTTGCCCAGGCTGGTCTTGAACTCCTGGACTCAAGTGATCTGCCCACCTTGGCCTCCCAAATCACGCTGGAATTACAGGCGTGAGCCACTGCACCCAGGACAAAGACTAATTTTTTGTAGTCAAATTTATCAACACTTTTCAGTCTTTTAGATTTCACAATTTTCTCTCTTTGGTTTCTCAGCTCTTCTCTAATGTTTATTTGTTCAGACACCCAACTTAGATATATTTTTTCAAGTTCTCACATAAAACAAACACAAAACTGGAAATTTAGATTTAAATTGCGTTTAATTTATACATCCCTGCACATCTGGGAGCTGGCCTTGGTATTCTGTTGAATATAAACAATTTCAGAGAACATCAGCATCGGACAAGGTCACTCTGTGACCGTGAGGGAGCAAGACAGAAACAGAACCACTCCATCGTCACATCTGAATGCTGGCAAAGGTGAACACTGTCCAAACCACAAAAGGCATGAAACATCCCTCTTTCTCCCATAAGAGAGTGACTGTTGTTTCCTTACCAATTACAGCATTAGCC | GGAGGCCCCTTCTTCCCATGAGCCATTTTCTCTGCATCCCCTGCCCATAAGCCTTCACTGGCCTCTGATCACCCTCATGGTTGACTGCAGCTGCTCCTCTCAGTGCCCTCATGCCCTCCACTGTGCTCAGCGCACGGAAAGAGTGAATACTCAGTTCTTCCTGAGGGAACTGAGGCACAGAGAAGTGGAGGGCATAGAACTGCCAAGTGGCAGGGCCATGATAGGAACTAGGCAGCCTGCCTTGGCAACCTGTGTTTTTAAATGTTGCTTATGTTCATCTGTGACCTCTTACTCACCCTCTCCTGCTCCATTGCTTTAGGCTATGAACTCTCCAAAGTGGAAGGGAAAACAGGGACCCCTGAGAAGCCCCTCTCAGACCTTGGCCTCCTATCCTATCGAAGCTACTGGTCCCAGACCATCCTGGAGATCCTGATGGGGCTGAAGTCGGAGAGCGGGGAGAGGCCACAGATCACCATCAAGTGAGCCTGGCGCTGTCTACCTGGGGGTACATGGCATGGCTTGTCTGTTCCTGGGCTTTCTCTCTCAGGGCTCCTGGGGACAGATAAAGGTCCTCAGGGAACCTGACCTGTGCTCTCCCACAGTGAGATTAGTGAAATCACCAGCATCAAGAAGGAGGATGTCATCTCCACTCTGCAGTACCTCAATCTCATCAACTACTACAAGGTAGGGAGGCAGGCAGGGGAGACAGGTGTGTGGGATGCAGAGTGCAGTCCTCTGTGGGCTGACCACCTGCTGAACCCATCTCCTCTGCCCAGGGCCAGTACATCCTCACACTGTCAGAGGACATCGTGGATGGCCATGAGCGGGCCATGCTCAAGCGGCTCCTGCGGATCGACTCCAAGTGTCTGCACTTCACTCCCAAGGACTGGAGCAAGAGGGGGAAGTGGTGACCAGACACTGCCCACTGCAGTGCCAAGACGGCAGCAGGACTGGGGCTGATAGCCCACCCCGCCCCCACTGCAGCTCCCACAAAGCACTCTAAGGGAGATGGGGCTGAGGACAGCTCAAAAAGGAGAGGACAGGCCTGGCAGGGGCCCACTGGTGCCCAGCACCAAGGCGAGCTCCGGGCTCAGACCAACTCCAAGGTCAGCTGGCCACAGGCCCAGGCCTCCTCTGAAGCAGGGACCAGAGGGAGCCAGGCAGCTGTGTACAGTGAGAAGGGATCCGGATGGGGGAGCTCTGTACAGAGGGCTGGTGATTGTAAAAATTTCTTTTGTAAAGTAGAAGTTGGGGGTGGGGTGGGTGCTGGCTGCAAAAATTTCTGGCTTCTCTTACCCCTATTGCCCCCGGCAATAAATTGTTTCTATATGCCAGAGCCATGCAAAGTTCTTGGTGGGGAGGGGGAAAGGGCCCATGCTGGCTTAGGGGCTCTAAGGCGCCCAGACTCACAGGTGCTGTGAAGAGCTCCTTTATTGGGGTGATGGAATCGGTTCCAAAGAGCTGGTTTACTGCTGTGAAGGGATCGCAGCTTTGAATTTCAAGCTCTGGTTCTCAGTCCTCGGGCACCTGTGCGTGAATCTGCAACAGGAGTCGCCTCTACTGTTGGACTTGTAAGACAGGGCGGCAAGCTGGCCCCCATACCCGAGGAAGGACCCAGCTGTTCAGAATAACCGCTTCTAGACATGCTAGGAAGAGTGGTCAGGGAGCTACGCTTCCCACACACTACCCAGTAGAATCCTCCAGGCTCCGTCTGCGCAATTGTGCTCCCCAGCCCATCCACCCGGGGGCAAGACGGAACTCCTCGTCTACTCACCGCTGCCGCAAGGCTGGGCCAAGTTAAGGCCCCACGCACTTTGGCATCCGGGCCAGGGATGGTCTCCAGACCCCACAGGGTGAAGCGGCTGAAGTTGGCAGTGGCTCCAATGAAGCGGTCCTGGGGAAGGGGCCTGGCTCAGCATCGGGACTACAGCTCCCGCCCGCACCCCCTTTCAACCCTATCCCTTTGCTCACGAAGTCCCGCTCCAGCGGCTCCTCCTCTTGGTCGTCAGTCCCGGAATCCCGCAAGGGGTCTGGCTTCCCCATCGACACCTTCTCTTCTGTCACCATCACGTATCCCACGAGGCCAGGCGGCACCGCCACCTCCTCTCCCCGTAGACAGCGGCCCCGAAACGACACTTCGAGTCCTGGAGCGGGAGGCGCAAAGGGCCTCAGGCAGGACCCACGCTGGGTCGAGCCCGGAGCTGCCCTCCCGCCACCTCCGGACGGACCACGATCCCCAGGAGCCCAGGCGATGAGAAGCGCGCAGGCCGGCGCGGGGGCTGCCGGGAGCCGTAGTCCGGCCGCAGGGCTCACCCTCGGGGCCCTGGCGGATGGCGGGCGTGAAGAAGCGCCCCACCGGGGCGGGCCCGTCCACCGCAACCTCGCAGGGCAGCAGATGCAGTGTGGCGGGTACGGCGTCGCGCAATGTGGCGGAGCGCAAGTGGACGCGGTGCCTCTCGATGGCCGCTTCGTCGCCGCTCTCCATCCTCCCTCCTACGCGACGCCAGGGCTCGCGAGCTGACACTGAAGCTGGCGCGGAAAGCGCGCAGGACCTCTCAGGAAGCCTCCGCGGGGCCTCACGGGAAGCCGCCGCGGAGCTTCACGGGAAGTGTAGTCCCCTTACCCCCTAACGCTTTCCCTGGGTTCAAGTCCTAGGGTTTTCCAGTTGTGTTTTGTTTTTTTCCTTCCTTCCTTCCCCCCTCCCCTCTTTCCTCCCTCCCCTCTCCCCCTCTCCTTCCCCCTCCCCCCTCCTTCCCCCTCCCCCCTCCCCCTCCTCCCTGCCTCCCTTCCTTCCCCCCTTCCCTTCCCTTCCTTCCCGTCCTTCCCTCTTTCTTTCTTTTTCTTATTTATTATTATTTTTTTTTGACAGAGTCTCGTTTTGTCGCCCAGGCTGGAGTGCCAGGCACGGTCTCAGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCGGAGTAGCTGGGATTACAGGCGCACACCACCATGCCCACCTAATTTTTGTATTTTTAGTAGAGACTGGGTTTCGCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGCGATCCTCCAGCCTCGGCCTTCTGAAGTACTTGGATTACAGGCGTGAGACACCGCCCCCAGCCGGGTTTTTTTCTTTTATTGTTTTTAATGGCACATGTCGTTGTAAAAATCTAAAACGATTCTGAAAAGTACTCTTTTTATATTGATTAGTAGGTAGGTTATTCATTTTTAGTTTATTAGGGACATCAACCCTTTTCTTAAATGCATTGAAAATGTTTTATCTGTGGTCTGTCTTGCAAACCTGTGTAAAGGTGATTTTTGCTGGACAAGGACTTATTTTTGTGGTTGTTTGGTCTTTTAGACAAGGTCTCACTCGCCTAGGCTGGAGTGCAGTGGTTTGATTGGCTCACTGCAGCCTCGACCTCCCAGGCTTAATCCATCCCCCATCCTCAGCTTCCTGTGTAGCTGGAACCACAGGCCTGCGCCACCACGCAGCTAATTTTTGTATTTTTGGTAGAGGTGGAGTTTTGCCATGTTGCCCAGGCTGGTCTTGAACTCCTGGACTCAAGTGATCTGCCCACCTTGGCCTCCCAAATCACGCTGGAATTACAGGCGTGAGCCACTGCACCCAGGACAAAGACTAATTTTTTGTAGTCAAATTTATCAACACTTTTCAGTCTTTTAGATTTCACAATTTTCTCTCTTTGGTTTCTCAGCTCTTCTCTAATGTTTATTTGTTCAGACACCCAACTTAGATATATTTTTTCAAGTTCTCACATAAAACAAACACAAAACTGGAAATTTAGATTTAAATTGCGTTTAATTTATACATCCCTGCACATCTGGGAGCTGGCCTTGGTATTCTGTTGAATATAAACAATTTCAGAGAACATCAGCATCGGACAAGGTCACTCTGTGACCGTGAGGGAGCAAGACAGAAACAGAACCACTCCATCGTCACATCTGAATGCTGGCAAAGGTGAACACTGTCCAAACCACAAAAGGCATGAAACATCCCTCTTTCTCCCATAAGAGAGTGACTGTTGTTTCCTTACCAATTACAGCATTAGCCNNN | benign | 178,502 |
A mutation at chromosome position 65868409 on chromosome 11 in gene EFEMP2 (EGF containing fibulin extracellular matrix protein 2): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Cutis_laxa,_autosomal_recessive,_type_1B'] | TAGGAGTGCAGAGGGCTCATTGGGAAAATAAAAATAATAAAAATAAATAAAACTTCCTAAAAGAAAAGATTGAAAACCACTAACAGTCCAGTTGCCTCGTTTTATAGAAAAACAGGCCCAGGGAACTACTAGGGCTTATCCAAATGTACAGTTTGAGGCAGAGTTAGGAATGGAACCCAGGGCCTCCTGGCGCTGTCCAGAGTGGAGTTTCTTAGGACCCCTGCAAGCCAGCCAAGTCCAAATCTCTGGGCCGGGGCCTGGAGTCCGCCCTCCTCGTTACCTCCTCTCCTCTCGGGGTGACTGAAGCTCGTGGTGCAGAGCTCCCAGCTCCTGTCAATGGGGGCCCCTGGGCCTGAACATATAGAGACCCCCATTTAGGTGAACTTGGCCTGCCCCCCCAAGTGCCACCCTGCCCCAGCCTGAGGCTTCCTGCAGTGTGACCCGCCCACCTCAGCCACCAGGACTTTCTTTCTCCCTTTATTGCCTTTCTCATTCTGCCCCTCACAACAGGCTCCTCAGCTAGGGTAGCTGCAGGGAGGGTGGCTCCCTCCTGCTCCTCAGAAGGTGTAGGCCCCTACAAAGACGGTGAGCCTCAGTACAGAGCTGGCCCGGTAGCTCATGAGGGAATTCATGGTGACCATCTCCAGGTCCAGCACGTACTCCCGGGGGCCCGTCACCGGCCGGGCGAGGACCAGCATGGCGCTGACGTTGTTGATTTGCTGCAGGGCAGTGGGTGGGGGGACATATATATTGTGTCAGCCTGTGTGCTAGGCCCCTGCCCCAGCGTCACCTCCCTGCCCCGTGGCCGTGAGGCAGAGGAACAGCCCTGGCCAGGCTGCCACCCCAGCCTCTCATGCAGCTCTTTGACACCCTCGATGTCTCTCCTCCCCACCCAGGCTCCTGCCCTCAGAAATCTCCTGCTGGGGCTCTTCTCACCCTCTCCAGCCTGCTCTGTCTGACCCAGGCTAACTGACGATTCAAGGCCACATGTGGCTCTTGGGACTGGTGGGACCTTTGGTGACCCAAAGTGAGCAGACTCCCTTCAGAGCATTCAATTTCAAAAAGAAAGAGAAGGGCTGGTACTAGACAAACCCCTTCTCCTGCTGAGACCCATGCATGCGGCTGCCAGTCACTGTGAGCAGCTCACTGTGAGCCGCCCCTGGCCCCCTCCCACCTAACAGATCCACTAGCAAGGAGTGGACTTTCTGACCCCAGGGCCCTGCACACGCCATTCCCTTGGTTTGTGGGTGAAGAAACTGAGATCAATATGGAAAACCAGTACCAGGACTCAAACTCCCGTGTCCGAGTGCTTCGTTAGAATTGCATTTAACCGTTAGAATTGCATTTAGAGTACCCCCGTCTTCCTGCAGAAACCCCGCCTCCGGGGGCGGGGCTTTGGGGGAGGGGTGGGGCATAGCAGCCTGGCCGAGTTCCCCCTTAAGGCGTCCTGGAGTTCAGTTTTAGATTGTGCATGTCAGTTGAGGGTTGCAGAAACCTTACCCTAATGTAAAAGTCCCCCTGCGAGTTTCCAGCACGGATCTGAAAGGCATTGTAGGCACCGGGGTAGACGGAGGTCGCCTGGATCTGGAACACGTCAGCGGGCACGCTCCGCTCCGAGGTGATGGTCATGTAGCGGTGCACAATGGATGAAGGCTGCTCTCGACATAGAGGGTTGGAGGCCGGGCAGAGACAGCGGCTAGAGACCCCGAGGTGGGGGACACAAATGAGCTCCTTGCCCGTCCCCCCAATTTCTCCTACCCTACAAAGGGAGGGAATCCCAAAAGGACCCTTCTACCCCTGTGACTGGTTTTCATGAAGGACTATGATTCCCATCATCCCTCAGGGGCACTCGCTGGTCTGAATAGATGCCAGTCAGCCCCAAAGCCCCCTGGGAGACGTAGTTTCTGTGGGGGCCTGGCATCGAATTGACTCACTTCTCAGAGACCTGGATGTAGGGCTCCACGCAGCGGTTGGTGTCCACGCAGCGGTAGCCCCCATGGAAGTTGACACAGGTTTGGGCCTCGGAGCACTGGTGCGCACCAGACTCACACTCATCAATGTCTGTGCCAGGGGAGAGGGGCTGGAATCGGGGGCGTCAGGCTGCCAGCTCCTGACACCGTCCTGCCCATCCCACCCGGGCAACCTGTACCTTGGCAGAGGCGTGTGGCCAGCAGCTGGTAACCCTGTGGGCAGTGGCAGGAGAAACGGCCTGGCTCGTTGATGCAGCGGTACTGACAGAGGTAGCTGGAGTAGCTACACTCATCAATATCTGAGGAAGCATGGGGATGGGGACCCCGGGTCAAGGGCATTCCTCACCATTCAGTCCCACAAACATTTCCCAAGAAGGCCCAGCCCCATGTTAGACTGAATGTAGGAAGACAGAGGGGGATGAGACAAGCCACAAGTTCAGCCGGGAGATGGAGGGTTCAAAGAAAGTTTGCCCAGGCTGCCGCAGCTCACAGACTTCTCTCTGCCCAGAACTGGAAGAAACACTAAATAAGTTACTGGGAATCTAGAGGCTTGGGTGTGAATCCCACCAGCTGATCTAGGGGAATCTCATTTTCCCAATCAGTAAAATGAGTGTGTTAGACTAGATGAGTCTTATGGGTCTGGCTTGTGCTGTAACGCCCAATTCCTGCAACCCACAGTCAACCTGAGCACCCAGTGGTCACCTCCAACTAACTGTGAGCTTCACAGGCAGAACATTTCCTTTCTCTTGTTCCCCTCATGCTGCCAGGTAGCAGTGAGGCCTCATCCCGCAGCAAAGCATAACATAGGGGGTACATGCCAGTTTACAGGGTGTAAGAAGTCTGGGATCCAGCCCTGGCCCCATCTCATCCTGGCTGTATGAGCTTGGGCGGGTCACTTAACCTCTCTTAGCTGAATCATGAAAGTCACCATTTACCCAGGACTTTGTGATTATTTTTATGTAATCCTCCCAACAAACGTGGAGGGAGATATGAATGTCCTCATTTTGTAGAGGAAGGAGAAAATCATACCTCCTAGGATTCTTGAGAGGAAGGAGGCCAAGTGTGTCAGGGAATACACTACGAGGGCAGGTTCTCATTAAGTGGCAGTTCATTCACTTTAAAGCACTGCAGCTTGAGACTTGCTGGAGCCCATCTATCACACTCTCACCTAATCCTCAAGACAACCCATTTTATAGAAGAAGAAACAGGCTCAGAGAGGAGTGACTTGTCCTAGTGCAAAATTCAAATGCAGGTAAATGCAGGTGAGCCTGATATGTGGGACAGGTGGCACCCACATCCTCAGTCTCACCAGTAGGCTTCAGTAAGGACGTAGCTGCCTCTCCTTGTGCCTCCCCCACTAGCCTGGGAGTGCTCCACAGCCAGCCGGGGTCGAGTACCCAGGAGGCAGCTGGGTGCACAGTGACAGGAGGCGGAGGCCTCAAATGGAGAACTGTGTGGCAGGAGGCACGGCATAGCTAGGGCCTGGGGGTCCACAGAGGAGTACACAGCAGGGATGGAGCTCTCACCACTGCAGGAGAAGCCATCCCGATGCAGCTCATAGCCCTGGTGGCAGCGACACAGGAAGGTCCCATAGGAGTTGAAGCAGCGCTGCTCGCATGGGGCCCCCATGTCACACTCGTTCACATCTGGGGGTGCCAGGAAAAACAGGAGGGATGAAAGCGGAGGAGGAGCCCAGAGCCTCCACTCTACCTGGGCTGGTCAAGAAGGGAGCGCCCCCACCTCACACCTCCCTGCCCAGGACCCAGGAGCCTGGCCCAGCCCAGCCTCACCAACACAGGAGCGGTTGTTAGGCCCCAGCTGGAAGCCCGGCTCGCACTGGCAGCGGAAGGAGCCAGGCAGGTTCACGCAGCGGTGCTGGCAGTAGCGGTAGCGGCACTCGTCTATGTCTAGGGATAGAGGCAGGAGAAGGAGGGCGGAGGGCAGAGGGCAGAGGGCAGGTGGGCTCGAGCCGGCTGGGACTCAAGGCTTCACCACCCATAATCCTGTGTCCGAGGAGCTGAATTAGGCAGGGTCAGCCAGGACACCTCCCAAACACTCCCCGCTACAGTCCTCTGTGTCTGATGACGGAGGGTGAGGTGGCAGGGGCCGGGGGTGAAGCCTGGCTT | TAGGAGTGCAGAGGGCTCATTGGGAAAATAAAAATAATAAAAATAAATAAAACTTCCTAAAAGAAAAGATTGAAAACCACTAACAGTCCAGTTGCCTCGTTTTATAGAAAAACAGGCCCAGGGAACTACTAGGGCTTATCCAAATGTACAGTTTGAGGCAGAGTTAGGAATGGAACCCAGGGCCTCCTGGCGCTGTCCAGAGTGGAGTTTCTTAGGACCCCTGCAAGCCAGCCAAGTCCAAATCTCTGGGCCGGGGCCTGGAGTCCGCCCTCCTCGTTACCTCCTCTCCTCTCGGGGTGACTGAAGCTCGTGGTGCAGAGCTCCCAGCTCCTGTCAATGGGGGCCCCTGGGCCTGAACATATAGAGACCCCCATTTAGGTGAACTTGGCCTGCCCCCCCAAGTGCCACCCTGCCCCAGCCTGAGGCTTCCTGCAGTGTGACCCGCCCACCTCAGCCACCAGGACTTTCTTTCTCCCTTTATTGCCTTTCTCATTCTGCCCCTCACAACAGGCTCCTCAGCTAGGGTAGCTGCAGGGAGGGTGGCTCCCTCCTGCTCCTCAGAAGGTGTAGGCCCCTACAAAGACGGTGAGCCTCAGTACAGAGCTGGCCCGGTAGCTCATGAGGGAATTCATGGTGACCATCTCCAGGTCCAGCACGTACTCCCGGGGGCCCGTCACCGGCCGGGCGAGGACCAGCATGGCGCTGACGTTGTTGATTTGCTGCAGGGCAGTGGGTGGGGGGACATATATATTGTGTCAGCCTGTGTGCTAGGCCCCTGCCCCAGCGTCACCTCCCTGCCCCGTGGCCGTGAGGCAGAGGAACAGCCCTGGCCAGGCTGCCACCCCAGCCTCTCATGCAGCTCTTTGACACCCTCGATGTCTCTCCTCCCCACCCAGGCTCCTGCCCTCAGAAATCTCCTGCTGGGGCTCTTCTCACCCTCTCCAGCCTGCTCTGTCTGACCCAGGCTAACTGACGATTCAAGGCCACATGTGGCTCTTGGGACTGGTGGGACCTTTGGTGACCCAAAGTGAGCAGACTCCCTTCAGAGCATTCAATTTCAAAAAGAAAGAGAAGGGCTGGTACTAGACAAACCCCTTCTCCTGCTGAGACCCATGCATGCGGCTGCCAGTCACTGTGAGCAGCTCACTGTGAGCCGCCCCTGGCCCCCTCCCACCTAACAGATCCACTAGCAAGGAGTGGACTTTCTGACCCCAGGGCCCTGCACACGCCATTCCCTTGGTTTGTGGGTGAAGAAACTGAGATCAATATGGAAAACCAGTACCAGGACTCAAACTCCCGTGTCCGAGTGCTTCGTTAGAATTGCATTTAACCGTTAGAATTGCATTTAGAGTACCCCCGTCTTCCTGCAGAAACCCCGCCTCCGGGGGCGGGGCTTTGGGGGAGGGGTGGGGCATAGCAGCCTGGCCGAGTTCCCCCTTAAGGCGTCCTGGAGTTCAGTTTTAGATTGTGCATGTCAGTTGAGGGTTGCAGAAACCTTACCCTAATGTAAAAGTCCCCCTGCGAGTTTCCAGCACGGATCTGAAAGGCATTGTAGGCACCGGGGTAGACGGAGGTCGCCTGGATCTGGAACACGTCAGCGGGCACGCTCCGCTCCGAGGTGATGGTCATGTAGCGGTGCACAATGGATGAAGGCTGCTCTCGACATAGAGGGTTGGAGGCCGGGCAGAGACAGCGGCTAGAGACCCCGAGGTGGGGGACACAAATGAGCTCCTTGCCCGTCCCCCCAATTTCTCCTACCCTACAAAGGGAGGGAATCCCAAAAGGACCCTTCTACCCCTGTGACTGGTTTTCATGAAGGACTATGATTCCCATCATCCCTCAGGGGCACTCGCTGGTCTGAATAGATGCCAGTCAGCCCCAAAGCCCCCTGGGAGACGTAGTTTCTGTGGGGGCCTGGCATCGAATTGACTCACTTCTCAGAGACCTGGATGTAGGGCTCCACGCAGCGGTTGGTGTCCACGCAGCGGTAGCCCCCATGGAAGTTGACACAGGTTTGGGCCTCGGAGCACTGGTGCGCACCAGACTCACAACTCATCAATGTCTGTGCCAGGGGAGAGGGGCTGGAATCGGGGGCGTCAGGCTGCCAGCTCCTGACACCGTCCTGCCCATCCCACCCGGGCAACCTGTACCTTGGCAGAGGCGTGTGGCCAGCAGCTGGTAACCCTGTGGGCAGTGGCAGGAGAAACGGCCTGGCTCGTTGATGCAGCGGTACTGACAGAGGTAGCTGGAGTAGCTACACTCATCAATATCTGAGGAAGCATGGGGATGGGGACCCCGGGTCAAGGGCATTCCTCACCATTCAGTCCCACAAACATTTCCCAAGAAGGCCCAGCCCCATGTTAGACTGAATGTAGGAAGACAGAGGGGGATGAGACAAGCCACAAGTTCAGCCGGGAGATGGAGGGTTCAAAGAAAGTTTGCCCAGGCTGCCGCAGCTCACAGACTTCTCTCTGCCCAGAACTGGAAGAAACACTAAATAAGTTACTGGGAATCTAGAGGCTTGGGTGTGAATCCCACCAGCTGATCTAGGGGAATCTCATTTTCCCAATCAGTAAAATGAGTGTGTTAGACTAGATGAGTCTTATGGGTCTGGCTTGTGCTGTAACGCCCAATTCCTGCAACCCACAGTCAACCTGAGCACCCAGTGGTCACCTCCAACTAACTGTGAGCTTCACAGGCAGAACATTTCCTTTCTCTTGTTCCCCTCATGCTGCCAGGTAGCAGTGAGGCCTCATCCCGCAGCAAAGCATAACATAGGGGGTACATGCCAGTTTACAGGGTGTAAGAAGTCTGGGATCCAGCCCTGGCCCCATCTCATCCTGGCTGTATGAGCTTGGGCGGGTCACTTAACCTCTCTTAGCTGAATCATGAAAGTCACCATTTACCCAGGACTTTGTGATTATTTTTATGTAATCCTCCCAACAAACGTGGAGGGAGATATGAATGTCCTCATTTTGTAGAGGAAGGAGAAAATCATACCTCCTAGGATTCTTGAGAGGAAGGAGGCCAAGTGTGTCAGGGAATACACTACGAGGGCAGGTTCTCATTAAGTGGCAGTTCATTCACTTTAAAGCACTGCAGCTTGAGACTTGCTGGAGCCCATCTATCACACTCTCACCTAATCCTCAAGACAACCCATTTTATAGAAGAAGAAACAGGCTCAGAGAGGAGTGACTTGTCCTAGTGCAAAATTCAAATGCAGGTAAATGCAGGTGAGCCTGATATGTGGGACAGGTGGCACCCACATCCTCAGTCTCACCAGTAGGCTTCAGTAAGGACGTAGCTGCCTCTCCTTGTGCCTCCCCCACTAGCCTGGGAGTGCTCCACAGCCAGCCGGGGTCGAGTACCCAGGAGGCAGCTGGGTGCACAGTGACAGGAGGCGGAGGCCTCAAATGGAGAACTGTGTGGCAGGAGGCACGGCATAGCTAGGGCCTGGGGGTCCACAGAGGAGTACACAGCAGGGATGGAGCTCTCACCACTGCAGGAGAAGCCATCCCGATGCAGCTCATAGCCCTGGTGGCAGCGACACAGGAAGGTCCCATAGGAGTTGAAGCAGCGCTGCTCGCATGGGGCCCCCATGTCACACTCGTTCACATCTGGGGGTGCCAGGAAAAACAGGAGGGATGAAAGCGGAGGAGGAGCCCAGAGCCTCCACTCTACCTGGGCTGGTCAAGAAGGGAGCGCCCCCACCTCACACCTCCCTGCCCAGGACCCAGGAGCCTGGCCCAGCCCAGCCTCACCAACACAGGAGCGGTTGTTAGGCCCCAGCTGGAAGCCCGGCTCGCACTGGCAGCGGAAGGAGCCAGGCAGGTTCACGCAGCGGTGCTGGCAGTAGCGGTAGCGGCACTCGTCTATGTCTAGGGATAGAGGCAGGAGAAGGAGGGCGGAGGGCAGAGGGCAGAGGGCAGGTGGGCTCGAGCCGGCTGGGACTCAAGGCTTCACCACCCATAATCCTGTGTCCGAGGAGCTGAATTAGGCAGGGTCAGCCAGGACACCTCCCAAACACTCCCCGCTACAGTCCTCTGTGTCTGATGACGGAGGGTGAGGTGGCAGGGGCCGGGGGTGAAGCCTGGCT | pathogenic | 178,542 |
Is chromosome 11, position 66026403, gene CATSPER1 (cation channel sperm associated 1) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | benign | GCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGGGTGCACCACCACGCCCAGCTAATTTTTGTATTTTTTTGGTAAAGACGGGATCTCGCCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGCGATCCACCCACCTCGGCCTCCCAAAGTGCTGAGATTACAGGCGTGAGTCACCGCGCCTGGCCTGTTGTCATGTTTATTGAACTACTAGGAAGAAAGTTTGGTGGCGTATGAGCTAAAGGCCATGGTCCCTCCTTGCCCTCCAATAAGGCCCTCATTCAGGCATTAGTTCCTAATCTCTGTTCTCAAGCAGCTCACAGGTGAGTGGGAGAAATCTGGACAGATAGAATCCACCATGGTAAATGTTCTGAGGGCAGGCCCCGAGCACAGGATGATCTGTGGTCAGCTAAGTGACCACTCCTAGTTTTGGGCCCCTCGAGGGCAGCGACTGTGTTGAATTTTTCCCCATGCTGCCATGGCCCAGGCAGGCCACACACCCACATTGGATGAGTATCAATGTTTGACTGGTAGACATATGAATAAATAAGGCAGTGACTGAATGAACAAACACCTCATGGCCTAAAGAGGTACATAATTCAAGGAATAAAAGATGGGACCATGAACAGTCAGGAGAGTGAATAGCCAGTGGGGGACCTGTGCAGGAGGGTCGGGCCTTACGATCTGCGGAAGGACAGTGCGGGGCCGAGATCAGGTCTGGATCCTGCGCCAGGCAGCAGGAGTTGGCATGGGGGGCCCAGCAAAGACTCACTTTTGCGTTTCTGAAATTGCCCTTCTTCTTTGCCCCAGTCTTCTGAATGTTTGGTGGAGATATCCTGGGTATGGACTTTTTTGGACATCTGGGTGACACGTGAGCGGATTGTGCTGGAGGACCGAGTCATGCTGTGAGCCGAGCCCCGTGGGTGTGCTACGTGATAGGGGAAGACTCCTGTACGAGAAGCAGCAGGGCCGGGGGCATCGTGAATCAGGCTCCGGGATGTGTGTGGGATAGAGAGTTGGGAAGTGCTCTGGACGTAGTCGCCATGGAGGTAACTGGAATGATACGCGCCGTGGTGGTCTTGGTGCTGATGGTAGTCTCGGTGCCGGTGGGTCTGGTGGTAGTGGTGCTGTGTGTGGTGGGGATGGTCGCCATGGTGGTACTCACTGGGGTGGTGATCACCTTGGTGGTACTCGCTGTGATAGTCAGATATCCCACGCTGGTAGGACCCCACAGAGGAATGAGGGGAAATGGTCTCTCCGTGATGAGGAGACTTTCCATGCTGGTGGGCTTCATGATGACGGGACCTGCCATGGTGGTGGACTTGGTGATGGTGGGGCCAGCCACGGTGGGGGACTTGGTGATGCTGGGACTCATCGTGTTGGAGCCCGCTAAGGTGGGAAGCCTCGCTGTGGTGGAAGGACTCACTGTAGGGATTGGGTCCATGGGGGAGGTAGGACCCACCATGGTGGGAAGCCTCACCGTGGTGGGGCACGCCAGAGGAATAGTGGGATAAATTCTCACCGAGATATTGGGGTCTGCCATGGTGAGACCCCCTATGGTAATGGGAGTCACTCTGCTGATGGAACCCACCGTATTGGGACCCATCATGATGCCTCCTGCCATCACGTTGGAGCTCATCATGGTAGTCCTCACCGTAGGAACGGTGGGAGGGGACGGCGCCTTGAGAGGGAGCCAGACCAAAGCCTGTGGGGCCATGGGCTCTGCCGTGATTCCGTGCCTCGCTGTGGTGGTGAGATTGGTGGACATGGGAGGACAAGGCTTGGTCGTGGAAGTCTTGGAACTCCGGAGGGTGGTGAGATTCACCACGTTGGTGGGGCACGCCGTGATGGTGCAACTCGTAATGGTGGAGAGCTCTGCTGTGGCCTGGCCTGTGGTGTGGGGGTGATGAGTGAGAGCGAAAGAACCTATCTGCGTTATTGGTGTCTGCCTCATTCTGAGCCTTTTCAGGCACTGAGTTTTGATCCATGACTGTGCTGGGAACTCTGGAGCCAAAAGAGCTCAAGACCTGGGCCCAACAGGCCCCGCCTGGATTTCCCTTCTTTCCTGAGCCAAGCTCAATGCAGACTGTGGCACTGGGCTTCCAGAAAGGCCTGACTATTCTCGTGGAACTCTCCCCTCTATGATGTCACCAGCAGGCCAGGGCCTCATTCCCAAATGCCTCTTCCTGGGCTATAGTTCGGAATCAAGAATTATTGTGTCAAACTCCTTCATTGTAAATGAGGAAACCGAGGTCAAGAAAAGGGAAGGACTAGACCAAGGTGACCTCACAGGTCACTGGCAAAGCTGGACAAAGAAGTCCATGGGGGCGCCATGGCTTCATCAGCTACTTTAGCCCTGTTGTTGGAAAGAAAATGGTCCAAGTGGTCCAGTCTTCAGTCCCATCTAGAGATCAGCTGGCTCTGGGGTGAAGACTGCCTGACTCCCTCATAAGTAGGTGTGTGACCTTGGGCTTGTTGCTGAACTTTCCCGTGCCTCAGTTTCTTCCTCTGTAAAATGGGAATAATAATACCTAGCCCACAGGATCAAAAAAGTTAAGATATGTAAGCCTTATATTAACAGCATAATACATGGTTTTTGTTGTTGTTGTTGTTGTTTGTTTCTTTGTTTGTTTTTGAGATGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTTGACTCACTGCAACCTCCACCTCCCAGCTTCATGCCATTTTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCACCACCACGCCCGGCTAACTTTTTCTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGAATGGTCTTGATCTCCTGACCTCGTGATCCGCCTGCCTTGCCCTTCCAAAGTGTTGGGATTACAGGTGTGAGCCACTGCGCCCAGCCCATGTTTTTTTGTTTTTGTTTTTGTTTTTTGAGACAGTCTCACTGTCACCCAGGCTGGAGTGCAGCGGCATGATCTCCACTCATGGCAATCTCTGCCTCCCAGGTTCAAGTGAGCCTCCTGCCTTAGCCCCCTGAGTAGCTGGGATTACAGCCACCCACCACCATACCCCACCCCGGCTAATTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTACTCTGTCACTAGGCTGGAGTGCCGGGGTGCAATCTTGGCTCACTGCAATCTCTGCCTCCTGGGTTCAGGCAATTCTCCTGCCTCAGCTTTCCTAGTAGCTGCGACTACAGGTGCACACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGACGAGGCTGCTCTTGAACTCCTGACCTCAAATGATCCACCCACCTCGCACTCCCTAAGTGCTGGGATTTCAGGTGTGAGCCACCATGCCTGGCCAATACATGTTAATTGGCATTATTATTCTCTTCTTGATCTTGGAACCCCCCTTTAGGGTTATTACCAAAATTAAACTATCAGCCATCATTTATTGAGGATTGCTTCATACACATTTTGTTTTCTTTCTTTCTTTTTTTTTTTTTGAGACACAGTCTTGCTCTGTCACCTAGGGTGGAGTGCAGTGGCATGGTCTCAGCTCACAGCAACCTCCACCTCCTGAATTCAAGCAATTCTCCTGCCTCAGTCTCCCAAGTAGCTGAAAGTACAGGCGTGCACCACTACGCCCAGCTAACTTCTTTTGTATTTTAGTAGAGATGGGGTTTCACCCTGTTGGTCAGGCTGGTCTCGAACTCCTGATCTCAAACGATCTGCCCGCCTCGACAACCCAAAGTGCTGGGATTACAGGCATGCGCCACCGTGCCCGGCCCATACACATTAAATTTAATCCTCACAATAGCCCCACATGGTAGATATTGTTTATCCCCATTTGACAGACAAAGGTGCTATGGCTCAGAGAATATAAATGAGTTGCTTGATGAATGAAAACTTACCGTCAGTGCTATCTCACTCCAAGTCTGTATCTGTAACCTTCATGCTGTCCTGTCTTCCTCCTGGAATCCACTGCAGAGCTTGCCCTGTATGCTGAATTCATATGTGCACAGCGC | GCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGGGTGCACCACCACGCCCAGCTAATTTTTGTATTTTTTTGGTAAAGACGGGATCTCGCCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGCGATCCACCCACCTCGGCCTCCCAAAGTGCTGAGATTACAGGCGTGAGTCACCGCGCCTGGCCTGTTGTCATGTTTATTGAACTACTAGGAAGAAAGTTTGGTGGCGTATGAGCTAAAGGCCATGGTCCCTCCTTGCCCTCCAATAAGGCCCTCATTCAGGCATTAGTTCCTAATCTCTGTTCTCAAGCAGCTCACAGGTGAGTGGGAGAAATCTGGACAGATAGAATCCACCATGGTAAATGTTCTGAGGGCAGGCCCCGAGCACAGGATGATCTGTGGTCAGCTAAGTGACCACTCCTAGTTTTGGGCCCCTCGAGGGCAGCGACTGTGTTGAATTTTTCCCCATGCTGCCATGGCCCAGGCAGGCCACACACCCACATTGGATGAGTATCAATGTTTGACTGGTAGACATATGAATAAATAAGGCAGTGACTGAATGAACAAACACCTCATGGCCTAAAGAGGTACATAATTCAAGGAATAAAAGATGGGACCATGAACAGTCAGGAGAGTGAATAGCCAGTGGGGGACCTGTGCAGGAGGGTCGGGCCTTACGATCTGCGGAAGGACAGTGCGGGGCCGAGATCAGGTCTGGATCCTGCGCCAGGCAGCAGGAGTTGGCATGGGGGGCCCAGCAAAGACTCACTTTTGCGTTTCTGAAATTGCCCTTCTTCTTTGCCCCAGTCTTCTGAATGTTTGGTGGAGATATCCTGGGTATGGACTTTTTTGGACATCTGGGTGACACGTGAGCGGATTGTGCTGGAGGACCGAGTCATGCTGTGAGCCGAGCCCCGTGGGTGTGCTACGTGATAGGGGAAGACTCCTGTACGAGAAGCAGCAGGGCCGGGGGCATCGTGAATCAGGCTCCGGGATGTGTGTGGGATAGAGAGTTGGGAAGTGCTCTGGACGTAGTCGCCATGGAGGTAACTGGAATGATACGCGCCGTGGTGGTCTTGGTGCTGATGGTAGTCTCGGTGCCGGTGGGTCTGGTGGTAGTGGTGCTGTGTGTGGTGGGGATGGTCGCCATGGTGGTACTCACTGGGGTGGTGATCACCTTGGTGGTACTCGCTGTGATAGTCAGATATCCCACGCTGGTAGGACCCCACAGAGGAATGAGGGGAAATGGTCTCTCCGTGATGAGGAGACTTTCCATGCTGGTGGGCTTCATGATGACGGGACCTGCCATGGTGGTGGACTTGGTGATGGTGGGGCCAGCCACGGTGGGGGACTTGGTGATGCTGGGACTCATCGTGTTGGAGCCCGCTAAGGTGGGAAGCCTCGCTGTGGTGGAAGGACTCACTGTAGGGATTGGGTCCATGGGGGAGGTAGGACCCACCATGGTGGGAAGCCTCACCGTGGTGGGGCACGCCAGAGGAATAGTGGGATAAATTCTCACCGAGATATTGGGGTCTGCCATGGTGAGACCCCCTATGGTAATGGGAGTCACTCTGCTGATGGAACCCACCGTATTGGGACCCATCATGATGCCTCCTGCCATCACGTTGGAGCTCATCATGGTAGTCCTCACCGTAGGAACGGTGGGAGGGGACGGCGCCTTGAGAGGGAGCCAGACCAAAGCCTGTGGGGCCATGGGCTCTGCCGTGATTCCGTGCCTCGCTGTGGTGGTGAGATTGGTGGACATGGGAGGACAAGGCTTGGTCGTGGAAGTCTTGGAACTCCGGAGGGTGGTGAGATTCACCACGTTGGTGGGGCACGCCGTGATGGTGCAACTCGTAATGGTGGAGAGCTCTGCTGTGGCCTGGCCTGTGGTGTGGGGGTGATGAGTGAGAGCGAAAGAACCTATCTGCGTTATTGGTGTCTGCCTCATTCTGAGCCTTTTCAGGCACTGAGTTTTGATCCATGACTGTGCTGGGAACTCTGGAGCCAAAGAGCTCAAGACCTGGGCCCAACAGGCCCCGCCTGGATTTCCCTTCTTTCCTGAGCCAAGCTCAATGCAGACTGTGGCACTGGGCTTCCAGAAAGGCCTGACTATTCTCGTGGAACTCTCCCCTCTATGATGTCACCAGCAGGCCAGGGCCTCATTCCCAAATGCCTCTTCCTGGGCTATAGTTCGGAATCAAGAATTATTGTGTCAAACTCCTTCATTGTAAATGAGGAAACCGAGGTCAAGAAAAGGGAAGGACTAGACCAAGGTGACCTCACAGGTCACTGGCAAAGCTGGACAAAGAAGTCCATGGGGGCGCCATGGCTTCATCAGCTACTTTAGCCCTGTTGTTGGAAAGAAAATGGTCCAAGTGGTCCAGTCTTCAGTCCCATCTAGAGATCAGCTGGCTCTGGGGTGAAGACTGCCTGACTCCCTCATAAGTAGGTGTGTGACCTTGGGCTTGTTGCTGAACTTTCCCGTGCCTCAGTTTCTTCCTCTGTAAAATGGGAATAATAATACCTAGCCCACAGGATCAAAAAAGTTAAGATATGTAAGCCTTATATTAACAGCATAATACATGGTTTTTGTTGTTGTTGTTGTTGTTTGTTTCTTTGTTTGTTTTTGAGATGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTTGACTCACTGCAACCTCCACCTCCCAGCTTCATGCCATTTTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCACCACCACGCCCGGCTAACTTTTTCTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGAATGGTCTTGATCTCCTGACCTCGTGATCCGCCTGCCTTGCCCTTCCAAAGTGTTGGGATTACAGGTGTGAGCCACTGCGCCCAGCCCATGTTTTTTTGTTTTTGTTTTTGTTTTTTGAGACAGTCTCACTGTCACCCAGGCTGGAGTGCAGCGGCATGATCTCCACTCATGGCAATCTCTGCCTCCCAGGTTCAAGTGAGCCTCCTGCCTTAGCCCCCTGAGTAGCTGGGATTACAGCCACCCACCACCATACCCCACCCCGGCTAATTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTACTCTGTCACTAGGCTGGAGTGCCGGGGTGCAATCTTGGCTCACTGCAATCTCTGCCTCCTGGGTTCAGGCAATTCTCCTGCCTCAGCTTTCCTAGTAGCTGCGACTACAGGTGCACACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGACGAGGCTGCTCTTGAACTCCTGACCTCAAATGATCCACCCACCTCGCACTCCCTAAGTGCTGGGATTTCAGGTGTGAGCCACCATGCCTGGCCAATACATGTTAATTGGCATTATTATTCTCTTCTTGATCTTGGAACCCCCCTTTAGGGTTATTACCAAAATTAAACTATCAGCCATCATTTATTGAGGATTGCTTCATACACATTTTGTTTTCTTTCTTTCTTTTTTTTTTTTTGAGACACAGTCTTGCTCTGTCACCTAGGGTGGAGTGCAGTGGCATGGTCTCAGCTCACAGCAACCTCCACCTCCTGAATTCAAGCAATTCTCCTGCCTCAGTCTCCCAAGTAGCTGAAAGTACAGGCGTGCACCACTACGCCCAGCTAACTTCTTTTGTATTTTAGTAGAGATGGGGTTTCACCCTGTTGGTCAGGCTGGTCTCGAACTCCTGATCTCAAACGATCTGCCCGCCTCGACAACCCAAAGTGCTGGGATTACAGGCATGCGCCACCGTGCCCGGCCCATACACATTAAATTTAATCCTCACAATAGCCCCACATGGTAGATATTGTTTATCCCCATTTGACAGACAAAGGTGCTATGGCTCAGAGAATATAAATGAGTTGCTTGATGAATGAAAACTTACCGTCAGTGCTATCTCACTCCAAGTCTGTATCTGTAACCTTCATGCTGTCCTGTCTTCCTCCTGGAATCCACTGCAGAGCTTGCCCTGTATGCTGAATTCATATGTGCACAGCGCN | benign | 178,648 |
Is the genetic change at chromosome 11, position 66070581, within gene PACS1 (phosphofurin acidic cluster sorting protein 1) benign or pathogenic? Name the disease(s) if pathogenic. | benign | TCTGAGAGGGAGCTCGAAGAGAATTCAGATTCAGCGCCTTTCCCACAGACTTCTATGTCTATGTCAGGCTGCCCACCCTTGTTTTGGGGGTCCGGGGGTGGTTCAACCTGTCTTAACCTGTGTCTCTTTCTCCCTATACAGCAAAAAAAACGGAAAGCTCAGCCCCAGGACAGCCGTGGGGGCAGCAAGAAATATAAGGAGTTCAAGTTTTAGGTCCCCTCACACTAGCCCTTTTTTTGGCCCTACGTCTGGATGCCTGGGCTTCACACAAGAACCACCTCTCCCGCAGTTCCCAAGGACTTGTCATTTCATGTTCTTATTTTAGACCTGTTTTGTAAATAAAGCTGTTTCCCAAGGAAAGAGATGAATATTTAACACTCCTGAGCCTCCCTCATCTCCTTTTAGCCCCTTCTTGCAAAAGGACTAAAATAGTCTCTTTCTACAATCACTGGGCTGCCCCAGTAACCACGAACATAAACTGGGATTAGACGGCGCATTTGACTGGTGGTGACGCCAACCCCAGGCTGAAATCTGTGTTTCACCACTGCCCTGCTTTGTAGGAAGGCTTGGGGGAAGTACCTCTAGGTCTGGTTTGACCTTACTACTTTGTCCTTGGGGAGTAAAAATAGCCAGATTAGCGCCCTAGCGCGGCAGAGGAAGTAACAGTGGGCTTGGGAAGTAGGCCAGGGCAGGCCTTCCCAACTGACCTTGTGACCAGAAGTTCAAGTCCTTACCTGTGCGACAACATAGCTCAAAAGCTAAATTGTCTTGAGTCCATATGAACCCTTGGGTTCAAGCAACACTAGTCGCTGGGGTTTGGGATTTGTATGTGGGATGGGGGGACTTACTTTCTCCAGGTTGTAATCTGGTCCTGAGCAGCCTTTCTGACAGACTAGAGCAGGCTGGATCACTGGCTCCCATGGGCATTTGCCAGCCTGTGGGGAGGGTAGTCATGCGCTGCTGTTGTACTACTGTTGGTGTTTAAGTGCACCAGTGGAGGCGCTCACTTGCCGGAGGGTTCAAGATGGTCTCGGGGTTGTGGGGGGCATGATCCAGATAGGACGTGGCAGCTGAGCTAGGCCTTAGGAGGAATGGAATTTTAGAAATTTGGTAAGCAACAAAGCACTGGCACTCTAAAGAGGCATTTGGGGGGTAGGGAAAGAAGAGGAAGGTTGGCTCCAGATGGGCCCCGGGGTAGCTTGAGAATTCACTTATGCGAAGAACCTTCTGGACTCCAGGTCCCTGAGCCCCCGCTTGCCCTCGGGGCGGGAACTTCCCGGATCACAGGCACCCGCGGTGGCAGCGGGCCCCGGGTCTCCGCCGACCTCTCTGTTTGCCGGGGCCGCAGGGCAGGGCTAGGTCGGCAGGCGGAGAGCCGGCTTCCCCGGGCAGACCCCCACCGCTGGGGGCGGGTTCCGCATTGGCTCCGAAGACCCGAGGGGCCGAGGCGCGCTCCCGCGGCGGCCCCCTCCCTGCAGGGACCGAATCCCGGAAAAGCCGGGTTTCCGCTGGCGGGGCCGCGGCCGGCCGTGGGCGGGGAGGGGAGGAGCGGGGGCAGACTGGCAGCGGATTTGAGGGCAGGACCCGTGGGCGCGCGCTGGCCACAGACCACCCCTTCTACTCCGCGGGAGCGAGGGGCGCGCGTGGCTGCACGCAGGGCGCGAGCGCGCCCGGCCCGGCCCCTCCGCGCTGGGTGGGGCCGCGCGGGCCGGGCTCCCCGCCCCCTCCCGGACACGCCCACCCGTGTCGGCCTCGCGAGCCGCAACAGGCAGCGGCGGTCGAGCGCGAGGCCCGCGCGCCCAGAGGCCCCGCGCGTGCGTGCAGCTCGCTGGCTGCTCGCGCTCGGGCAGGCGGGCTGAGGAGGCTGCCGCGCCCCCGCCGCCGCCGCCGCGGGGGAAGCCTGGGAGCCAGATCGGCGTCGCCTCGGCCTCCGTAACCCCCGCCTAGCCGGGCCATGGCGGAACGCGGAGGGGCGGGCGGTGGTCCCGGAGGCGCCGGGGGCGGCAGCGGCCAGCGGGGATCCGGGGTCGCCCAGTCCCCTCAGCAGCCGCCGCCGCAGCAGCAGCAGCAGCAGCCGCCGCAGCAGCCGACGCCCCCCAAGCTGGCCCAGGCCACCTCGTCGTCCTCGTCCACCTCGGCGGCGGCTGCCTCCTCCTCGTCCTCGTCTACCTCCACCTCCATGGCCGTGGCGGTGGCCTCGGGCTCCGCGCCTCCCGGTGGCCCGGGGCCAGGCCGCACCCCCGCCCCGGTGCAGATGAACCTGTACGCCACCTGGGAGGTGGACCGGAGCTCGTCCAGCTGCGTGCCTAGGTGAGCGCGGGAGGGTGCGGCGGGGCGCCGGGGGAGCGGGGTGGCCGCCGGGGCCCAGCCCTCCCCGCCCCAGCGCCCATGGGGTCCCCGCCCTCCATCTCCCCGACTGTCCCGCGGCCCGGCCTGGCTCCAGCCAGGCCTCCCGGGACTCCTGCCACGGGGACCCGCCCTCTCCTGGCAGCCCCACCTTCTGCCTGGGGCCGGGACCACCCTTCTGTCCTCCCCGAGGGACCTTCTGGCCTCGGCCCCGGGCTTTCTCCGATTGGGCTGACCGAATCCGGCCTTCCTGGCAGTCAGTTTCCCTGAGTAAGTCACTCTCCTGCCTCGCCGGCGCCGGGAGCTGTACATACATGGATGTGGTATAGATCTCTTGATATTATTATTTCCCAATAGACTCAGCATGTGCCAAACTCGATTGTCACCTCTTGCAGGTAAAGCTCATATAATCACCCTAGGGGCTTCTCATTAGCCTTCGGCACACATGTTCATTTGAACTTCATATTACACACGTTCTGTCCCAAGCGCTAGGCTCTTAGTTTTGGGGCCCTATTTAATGTGTCCTCAAGTGTATTTTTACCTCCCCTCCCCCACTAAAACTGGTCCCAGAATCTCCCAGCTCTGCAGGGCTGTATGAAATTACTGCCTTGTTCCTAAATTCAATCCATTGCTCTCTGTCTGTTGGAACCATCTGGGGACTTTCCTTCCATTGGCAAAATAGGCCTGAGTTTGGGAATATTTTCTGTTTTTGTATTGGCAAGGCAGTCTGTCTCCAACTCTGGGGACAGGGTGCTGTGTCTTACAGTTTGCCACTTGAATAAGACGGTGTGTGGAGCTGGTTTCACCCAGAAAGCCCAGAGAAGTGCCTGGAGGTGTTCTTTTTTGTCACCTTGTAGCTGAGTTGATTCTGTTGCCTTGAAGTCTTGGGCTGTCTCCTCACTGTTGGTTAGGCAGACGGATGTGTAAGTCAGAGTTAGAGAGGATTGCTGGGCTCCCCCCTCGACTGTCTTCCTTTCCCCACCTTTATTCTGGATAATATTGTTTTATATATATATCCCAGATAGGAATGATGAGAGTACATCTTTCTGTTTCGCTCAGCTTAAGGAACAGAGCATTATCGCTTCTGTTGAAGCTCTCAGGGTGCCCCTTCCTGACTGTCTCCCCTCTTCCTTCTACAAAGGTAAACACTATTTTGAATTGTGTTTATCATTTCCCTTGTTAGAAAAAAATTAGTTTTACTACATAATGCATCTCTATATATTTTATAGTTCTGAATGTTCTTGAAGTTTGTGTACATGGTGTCATCCTGTATGTGTTCTGTGACTTGATTGGTTTTTTTATTTTTTTTTAAATCAGCATTAGGTTTGTGAGAATCATCCATGTGGTATGGTAGCCATAGTTTAAATATTTTCATGATGGGTAGTATTCTGTTGTGTGAATGAATATACCGTAATTCTCTTGAATATGTAGGTTGTTTCCTGTTTAACACCCACAGTAATGCACACATTTCCCCCCAGGACTCCTAGTGCTCTTGTGCAGAAGTTTCTTTAGGTTGTATTCATATGGAGGGGTGGGATTGCCGCTCGCAGGGTATAGATCTGGGACTTCACTAGGCAAAAGTAGATTGTTTCCACAGGCTGCTTCCACTCTGTGTTTCCACATCACTTAACAGATTTACACATTGTTTTTTTTTTCTCTGTCCTTTCTCTAGGGAAATCAGGAGCCACATTAATTTAGTTTGCTGTGGCCAGATCCATAGCACAACACCAAGCTCAAGCGAGAGTTGAGT | TCTGAGAGGGAGCTCGAAGAGAATTCAGATTCAGCGCCTTTCCCACAGACTTCTATGTCTATGTCAGGCTGCCCACCCTTGTTTTGGGGGTCCGGGGGTGGTTCAACCTGTCTTAACCTGTGTCTCTTTCTCCCTATACAGCAAAAAAAACGGAAAGCTCAGCCCCAGGACAGCCGTGGGGGCAGCAAGAAATATAAGGAGTTCAAGTTTTAGGTCCCCTCACACTAGCCCTTTTTTTGGCCCTACGTCTGGATGCCTGGGCTTCACACAAGAACCACCTCTCCCGCAGTTCCCAAGGACTTGTCATTTCATGTTCTTATTTTAGACCTGTTTTGTAAATAAAGCTGTTTCCCAAGGAAAGAGATGAATATTTAACACTCCTGAGCCTCCCTCATCTCCTTTTAGCCCCTTCTTGCAAAAGGACTAAAATAGTCTCTTTCTACAATCACTGGGCTGCCCCAGTAACCACGAACATAAACTGGGATTAGACGGCGCATTTGACTGGTGGTGACGCCAACCCCAGGCTGAAATCTGTGTTTCACCACTGCCCTGCTTTGTAGGAAGGCTTGGGGGAAGTACCTCTAGGTCTGGTTTGACCTTACTACTTTGTCCTTGGGGAGTAAAAATAGCCAGATTAGCGCCCTAGCGCGGCAGAGGAAGTAACAGTGGGCTTGGGAAGTAGGCCAGGGCAGGCCTTCCCAACTGACCTTGTGACCAGAAGTTCAAGTCCTTACCTGTGCGACAACATAGCTCAAAAGCTAAATTGTCTTGAGTCCATATGAACCCTTGGGTTCAAGCAACACTAGTCGCTGGGGTTTGGGATTTGTATGTGGGATGGGGGGACTTACTTTCTCCAGGTTGTAATCTGGTCCTGAGCAGCCTTTCTGACAGACTAGAGCAGGCTGGATCACTGGCTCCCATGGGCATTTGCCAGCCTGTGGGGAGGGTAGTCATGCGCTGCTGTTGTACTACTGTTGGTGTTTAAGTGCACCAGTGGAGGCGCTCACTTGCCGGAGGGTTCAAGATGGTCTCGGGGTTGTGGGGGGCATGATCCAGATAGGACGTGGCAGCTGAGCTAGGCCTTAGGAGGAATGGAATTTTAGAAATTTGGTAAGCAACAAAGCACTGGCACTCTAAAGAGGCATTTGGGGGGTAGGGAAAGAAGAGGAAGGTTGGCTCCAGATGGGCCCCGGGGTAGCTTGAGAATTCACTTATGCGAAGAACCTTCTGGACTCCAGGTCCCTGAGCCCCCGCTTGCCCTCGGGGCGGGAACTTCCCGGATCACAGGCACCCGCGGTGGCAGCGGGCCCCGGGTCTCCGCCGACCTCTCTGTTTGCCGGGGCCGCAGGGCAGGGCTAGGTCGGCAGGCGGAGAGCCGGCTTCCCCGGGCAGACCCCCACCGCTGGGGGCGGGTTCCGCATTGGCTCCGAAGACCCGAGGGGCCGAGGCGCGCTCCCGCGGCGGCCCCCTCCCTGCAGGGACCGAATCCCGGAAAAGCCGGGTTTCCGCTGGCGGGGCCGCGGCCGGCCGTGGGCGGGGAGGGGAGGAGCGGGGGCAGACTGGCAGCGGATTTGAGGGCAGGACCCGTGGGCGCGCGCTGGCCACAGACCACCCCTTCTACTCCGCGGGAGCGAGGGGCGCGCGTGGCTGCACGCAGGGCGCGAGCGCGCCCGGCCCGGCCCCTCCGCGCTGGGTGGGGCCGCGCGGGCCGGGCTCCCCGCCCCCTCCCGGACACGCCCACCCGTGTCGGCCTCGCGAGCCGCAACAGGCAGCGGCGGTCGAGCGCGAGGCCCGCGCGCCCAGAGGCCCCGCGCGTGCGTGCAGCTCGCTGGCTGCTCGCGCTCGGGCAGGCGGGCTGAGGAGGCTGCCGCGCCCCCGCCGCCGCCGCCGCGGGGGAAGCCTGGGAGCCAGATCGGCGTCGCCTCGGCCTCCGTAACCCCCGCCTAGCCGGGCCATGGCGGAACGCGGAGGGGCGGGCGGTGGTCCCGGAGGCGCCGGGGGCGGCAGCGGCCAGCGGGGATCCGGGGTCGCCCAGTCCCCTCAGCAGCCGCCGCCGCAGCAGCAGCAGCAGCAGCCGCCGCAGCAGCAGCAGCAGCAGCCGCCGCAGCAGCCGACGCCCCCCAAGCTGGCCCAGGCCACCTCGTCGTCCTCGTCCACCTCGGCGGCGGCTGCCTCCTCCTCGTCCTCGTCTACCTCCACCTCCATGGCCGTGGCGGTGGCCTCGGGCTCCGCGCCTCCCGGTGGCCCGGGGCCAGGCCGCACCCCCGCCCCGGTGCAGATGAACCTGTACGCCACCTGGGAGGTGGACCGGAGCTCGTCCAGCTGCGTGCCTAGGTGAGCGCGGGAGGGTGCGGCGGGGCGCCGGGGGAGCGGGGTGGCCGCCGGGGCCCAGCCCTCCCCGCCCCAGCGCCCATGGGGTCCCCGCCCTCCATCTCCCCGACTGTCCCGCGGCCCGGCCTGGCTCCAGCCAGGCCTCCCGGGACTCCTGCCACGGGGACCCGCCCTCTCCTGGCAGCCCCACCTTCTGCCTGGGGCCGGGACCACCCTTCTGTCCTCCCCGAGGGACCTTCTGGCCTCGGCCCCGGGCTTTCTCCGATTGGGCTGACCGAATCCGGCCTTCCTGGCAGTCAGTTTCCCTGAGTAAGTCACTCTCCTGCCTCGCCGGCGCCGGGAGCTGTACATACATGGATGTGGTATAGATCTCTTGATATTATTATTTCCCAATAGACTCAGCATGTGCCAAACTCGATTGTCACCTCTTGCAGGTAAAGCTCATATAATCACCCTAGGGGCTTCTCATTAGCCTTCGGCACACATGTTCATTTGAACTTCATATTACACACGTTCTGTCCCAAGCGCTAGGCTCTTAGTTTTGGGGCCCTATTTAATGTGTCCTCAAGTGTATTTTTACCTCCCCTCCCCCACTAAAACTGGTCCCAGAATCTCCCAGCTCTGCAGGGCTGTATGAAATTACTGCCTTGTTCCTAAATTCAATCCATTGCTCTCTGTCTGTTGGAACCATCTGGGGACTTTCCTTCCATTGGCAAAATAGGCCTGAGTTTGGGAATATTTTCTGTTTTTGTATTGGCAAGGCAGTCTGTCTCCAACTCTGGGGACAGGGTGCTGTGTCTTACAGTTTGCCACTTGAATAAGACGGTGTGTGGAGCTGGTTTCACCCAGAAAGCCCAGAGAAGTGCCTGGAGGTGTTCTTTTTTGTCACCTTGTAGCTGAGTTGATTCTGTTGCCTTGAAGTCTTGGGCTGTCTCCTCACTGTTGGTTAGGCAGACGGATGTGTAAGTCAGAGTTAGAGAGGATTGCTGGGCTCCCCCCTCGACTGTCTTCCTTTCCCCACCTTTATTCTGGATAATATTGTTTTATATATATATCCCAGATAGGAATGATGAGAGTACATCTTTCTGTTTCGCTCAGCTTAAGGAACAGAGCATTATCGCTTCTGTTGAAGCTCTCAGGGTGCCCCTTCCTGACTGTCTCCCCTCTTCCTTCTACAAAGGTAAACACTATTTTGAATTGTGTTTATCATTTCCCTTGTTAGAAAAAAATTAGTTTTACTACATAATGCATCTCTATATATTTTATAGTTCTGAATGTTCTTGAAGTTTGTGTACATGGTGTCATCCTGTATGTGTTCTGTGACTTGATTGGTTTTTTTATTTTTTTTTAAATCAGCATTAGGTTTGTGAGAATCATCCATGTGGTATGGTAGCCATAGTTTAAATATTTTCATGATGGGTAGTATTCTGTTGTGTGAATGAATATACCGTAATTCTCTTGAATATGTAGGTTGTTTCCTGTTTAACACCCACAGTAATGCACACATTTCCCCCCAGGACTCCTAGTGCTCTTGTGCAGAAGTTTCTTTAGGTTGTATTCATATGGAGGGGTGGGATTGCCGCTCGCAGGGTATAGATCTGGGACTTCACTAGGCAAAAGTAGATTGTTTCCACAGGCTGCTTCCACTCTGTGTTTCCACATCACTTAACAGATTTACACATTGTTTTTTTTTTCTCTGTCCTTTCTCTAGGGAAATCAGGAGCCACATTAATTTAGTTTGCTGTGGCCAGATCCATAGCACAAC | benign | 178,662 |
A genetic variant on chromosome 11, position 66070728, affects the gene PACS1. Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | benign | AAACGGAAAGCTCAGCCCCAGGACAGCCGTGGGGGCAGCAAGAAATATAAGGAGTTCAAGTTTTAGGTCCCCTCACACTAGCCCTTTTTTTGGCCCTACGTCTGGATGCCTGGGCTTCACACAAGAACCACCTCTCCCGCAGTTCCCAAGGACTTGTCATTTCATGTTCTTATTTTAGACCTGTTTTGTAAATAAAGCTGTTTCCCAAGGAAAGAGATGAATATTTAACACTCCTGAGCCTCCCTCATCTCCTTTTAGCCCCTTCTTGCAAAAGGACTAAAATAGTCTCTTTCTACAATCACTGGGCTGCCCCAGTAACCACGAACATAAACTGGGATTAGACGGCGCATTTGACTGGTGGTGACGCCAACCCCAGGCTGAAATCTGTGTTTCACCACTGCCCTGCTTTGTAGGAAGGCTTGGGGGAAGTACCTCTAGGTCTGGTTTGACCTTACTACTTTGTCCTTGGGGAGTAAAAATAGCCAGATTAGCGCCCTAGCGCGGCAGAGGAAGTAACAGTGGGCTTGGGAAGTAGGCCAGGGCAGGCCTTCCCAACTGACCTTGTGACCAGAAGTTCAAGTCCTTACCTGTGCGACAACATAGCTCAAAAGCTAAATTGTCTTGAGTCCATATGAACCCTTGGGTTCAAGCAACACTAGTCGCTGGGGTTTGGGATTTGTATGTGGGATGGGGGGACTTACTTTCTCCAGGTTGTAATCTGGTCCTGAGCAGCCTTTCTGACAGACTAGAGCAGGCTGGATCACTGGCTCCCATGGGCATTTGCCAGCCTGTGGGGAGGGTAGTCATGCGCTGCTGTTGTACTACTGTTGGTGTTTAAGTGCACCAGTGGAGGCGCTCACTTGCCGGAGGGTTCAAGATGGTCTCGGGGTTGTGGGGGGCATGATCCAGATAGGACGTGGCAGCTGAGCTAGGCCTTAGGAGGAATGGAATTTTAGAAATTTGGTAAGCAACAAAGCACTGGCACTCTAAAGAGGCATTTGGGGGGTAGGGAAAGAAGAGGAAGGTTGGCTCCAGATGGGCCCCGGGGTAGCTTGAGAATTCACTTATGCGAAGAACCTTCTGGACTCCAGGTCCCTGAGCCCCCGCTTGCCCTCGGGGCGGGAACTTCCCGGATCACAGGCACCCGCGGTGGCAGCGGGCCCCGGGTCTCCGCCGACCTCTCTGTTTGCCGGGGCCGCAGGGCAGGGCTAGGTCGGCAGGCGGAGAGCCGGCTTCCCCGGGCAGACCCCCACCGCTGGGGGCGGGTTCCGCATTGGCTCCGAAGACCCGAGGGGCCGAGGCGCGCTCCCGCGGCGGCCCCCTCCCTGCAGGGACCGAATCCCGGAAAAGCCGGGTTTCCGCTGGCGGGGCCGCGGCCGGCCGTGGGCGGGGAGGGGAGGAGCGGGGGCAGACTGGCAGCGGATTTGAGGGCAGGACCCGTGGGCGCGCGCTGGCCACAGACCACCCCTTCTACTCCGCGGGAGCGAGGGGCGCGCGTGGCTGCACGCAGGGCGCGAGCGCGCCCGGCCCGGCCCCTCCGCGCTGGGTGGGGCCGCGCGGGCCGGGCTCCCCGCCCCCTCCCGGACACGCCCACCCGTGTCGGCCTCGCGAGCCGCAACAGGCAGCGGCGGTCGAGCGCGAGGCCCGCGCGCCCAGAGGCCCCGCGCGTGCGTGCAGCTCGCTGGCTGCTCGCGCTCGGGCAGGCGGGCTGAGGAGGCTGCCGCGCCCCCGCCGCCGCCGCCGCGGGGGAAGCCTGGGAGCCAGATCGGCGTCGCCTCGGCCTCCGTAACCCCCGCCTAGCCGGGCCATGGCGGAACGCGGAGGGGCGGGCGGTGGTCCCGGAGGCGCCGGGGGCGGCAGCGGCCAGCGGGGATCCGGGGTCGCCCAGTCCCCTCAGCAGCCGCCGCCGCAGCAGCAGCAGCAGCAGCCGCCGCAGCAGCCGACGCCCCCCAAGCTGGCCCAGGCCACCTCGTCGTCCTCGTCCACCTCGGCGGCGGCTGCCTCCTCCTCGTCCTCGTCTACCTCCACCTCCATGGCCGTGGCGGTGGCCTCGGGCTCCGCGCCTCCCGGTGGCCCGGGGCCAGGCCGCACCCCCGCCCCGGTGCAGATGAACCTGTACGCCACCTGGGAGGTGGACCGGAGCTCGTCCAGCTGCGTGCCTAGGTGAGCGCGGGAGGGTGCGGCGGGGCGCCGGGGGAGCGGGGTGGCCGCCGGGGCCCAGCCCTCCCCGCCCCAGCGCCCATGGGGTCCCCGCCCTCCATCTCCCCGACTGTCCCGCGGCCCGGCCTGGCTCCAGCCAGGCCTCCCGGGACTCCTGCCACGGGGACCCGCCCTCTCCTGGCAGCCCCACCTTCTGCCTGGGGCCGGGACCACCCTTCTGTCCTCCCCGAGGGACCTTCTGGCCTCGGCCCCGGGCTTTCTCCGATTGGGCTGACCGAATCCGGCCTTCCTGGCAGTCAGTTTCCCTGAGTAAGTCACTCTCCTGCCTCGCCGGCGCCGGGAGCTGTACATACATGGATGTGGTATAGATCTCTTGATATTATTATTTCCCAATAGACTCAGCATGTGCCAAACTCGATTGTCACCTCTTGCAGGTAAAGCTCATATAATCACCCTAGGGGCTTCTCATTAGCCTTCGGCACACATGTTCATTTGAACTTCATATTACACACGTTCTGTCCCAAGCGCTAGGCTCTTAGTTTTGGGGCCCTATTTAATGTGTCCTCAAGTGTATTTTTACCTCCCCTCCCCCACTAAAACTGGTCCCAGAATCTCCCAGCTCTGCAGGGCTGTATGAAATTACTGCCTTGTTCCTAAATTCAATCCATTGCTCTCTGTCTGTTGGAACCATCTGGGGACTTTCCTTCCATTGGCAAAATAGGCCTGAGTTTGGGAATATTTTCTGTTTTTGTATTGGCAAGGCAGTCTGTCTCCAACTCTGGGGACAGGGTGCTGTGTCTTACAGTTTGCCACTTGAATAAGACGGTGTGTGGAGCTGGTTTCACCCAGAAAGCCCAGAGAAGTGCCTGGAGGTGTTCTTTTTTGTCACCTTGTAGCTGAGTTGATTCTGTTGCCTTGAAGTCTTGGGCTGTCTCCTCACTGTTGGTTAGGCAGACGGATGTGTAAGTCAGAGTTAGAGAGGATTGCTGGGCTCCCCCCTCGACTGTCTTCCTTTCCCCACCTTTATTCTGGATAATATTGTTTTATATATATATCCCAGATAGGAATGATGAGAGTACATCTTTCTGTTTCGCTCAGCTTAAGGAACAGAGCATTATCGCTTCTGTTGAAGCTCTCAGGGTGCCCCTTCCTGACTGTCTCCCCTCTTCCTTCTACAAAGGTAAACACTATTTTGAATTGTGTTTATCATTTCCCTTGTTAGAAAAAAATTAGTTTTACTACATAATGCATCTCTATATATTTTATAGTTCTGAATGTTCTTGAAGTTTGTGTACATGGTGTCATCCTGTATGTGTTCTGTGACTTGATTGGTTTTTTTATTTTTTTTTAAATCAGCATTAGGTTTGTGAGAATCATCCATGTGGTATGGTAGCCATAGTTTAAATATTTTCATGATGGGTAGTATTCTGTTGTGTGAATGAATATACCGTAATTCTCTTGAATATGTAGGTTGTTTCCTGTTTAACACCCACAGTAATGCACACATTTCCCCCCAGGACTCCTAGTGCTCTTGTGCAGAAGTTTCTTTAGGTTGTATTCATATGGAGGGGTGGGATTGCCGCTCGCAGGGTATAGATCTGGGACTTCACTAGGCAAAAGTAGATTGTTTCCACAGGCTGCTTCCACTCTGTGTTTCCACATCACTTAACAGATTTACACATTGTTTTTTTTTTCTCTGTCCTTTCTCTAGGGAAATCAGGAGCCACATTAATTTAGTTTGCTGTGGCCAGATCCATAGCACAACACCAAGCTCAAGCGAGAGTTGAGTATGTGATGGTGTTCCTCTCTTGATCCTAAGCAGGCCTCTCTCTTTCTATACAGGCCCATCTATCGCTGAAGTATCCTAACCCACCTCTTTCACACATAGAAACACTGTGTTCCTTCCTACGTGGGTCCAGTCTTTCCCATTTCTCCT | AAACGGAAAGCTCAGCCCCAGGACAGCCGTGGGGGCAGCAAGAAATATAAGGAGTTCAAGTTTTAGGTCCCCTCACACTAGCCCTTTTTTTGGCCCTACGTCTGGATGCCTGGGCTTCACACAAGAACCACCTCTCCCGCAGTTCCCAAGGACTTGTCATTTCATGTTCTTATTTTAGACCTGTTTTGTAAATAAAGCTGTTTCCCAAGGAAAGAGATGAATATTTAACACTCCTGAGCCTCCCTCATCTCCTTTTAGCCCCTTCTTGCAAAAGGACTAAAATAGTCTCTTTCTACAATCACTGGGCTGCCCCAGTAACCACGAACATAAACTGGGATTAGACGGCGCATTTGACTGGTGGTGACGCCAACCCCAGGCTGAAATCTGTGTTTCACCACTGCCCTGCTTTGTAGGAAGGCTTGGGGGAAGTACCTCTAGGTCTGGTTTGACCTTACTACTTTGTCCTTGGGGAGTAAAAATAGCCAGATTAGCGCCCTAGCGCGGCAGAGGAAGTAACAGTGGGCTTGGGAAGTAGGCCAGGGCAGGCCTTCCCAACTGACCTTGTGACCAGAAGTTCAAGTCCTTACCTGTGCGACAACATAGCTCAAAAGCTAAATTGTCTTGAGTCCATATGAACCCTTGGGTTCAAGCAACACTAGTCGCTGGGGTTTGGGATTTGTATGTGGGATGGGGGGACTTACTTTCTCCAGGTTGTAATCTGGTCCTGAGCAGCCTTTCTGACAGACTAGAGCAGGCTGGATCACTGGCTCCCATGGGCATTTGCCAGCCTGTGGGGAGGGTAGTCATGCGCTGCTGTTGTACTACTGTTGGTGTTTAAGTGCACCAGTGGAGGCGCTCACTTGCCGGAGGGTTCAAGATGGTCTCGGGGTTGTGGGGGGCATGATCCAGATAGGACGTGGCAGCTGAGCTAGGCCTTAGGAGGAATGGAATTTTAGAAATTTGGTAAGCAACAAAGCACTGGCACTCTAAAGAGGCATTTGGGGGGTAGGGAAAGAAGAGGAAGGTTGGCTCCAGATGGGCCCCGGGGTAGCTTGAGAATTCACTTATGCGAAGAACCTTCTGGACTCCAGGTCCCTGAGCCCCCGCTTGCCCTCGGGGCGGGAACTTCCCGGATCACAGGCACCCGCGGTGGCAGCGGGCCCCGGGTCTCCGCCGACCTCTCTGTTTGCCGGGGCCGCAGGGCAGGGCTAGGTCGGCAGGCGGAGAGCCGGCTTCCCCGGGCAGACCCCCACCGCTGGGGGCGGGTTCCGCATTGGCTCCGAAGACCCGAGGGGCCGAGGCGCGCTCCCGCGGCGGCCCCCTCCCTGCAGGGACCGAATCCCGGAAAAGCCGGGTTTCCGCTGGCGGGGCCGCGGCCGGCCGTGGGCGGGGAGGGGAGGAGCGGGGGCAGACTGGCAGCGGATTTGAGGGCAGGACCCGTGGGCGCGCGCTGGCCACAGACCACCCCTTCTACTCCGCGGGAGCGAGGGGCGCGCGTGGCTGCACGCAGGGCGCGAGCGCGCCCGGCCCGGCCCCTCCGCGCTGGGTGGGGCCGCGCGGGCCGGGCTCCCCGCCCCCTCCCGGACACGCCCACCCGTGTCGGCCTCGCGAGCCGCAACAGGCAGCGGCGGTCGAGCGCGAGGCCCGCGCGCCCAGAGGCCCCGCGCGTGCGTGCAGCTCGCTGGCTGCTCGCGCTCGGGCAGGCGGGCTGAGGAGGCTGCCGCGCCCCCGCCGCCGCCGCCGCGGGGGAAGCCTGGGAGCCAGATCGGCGTCGCCTCGGCCTCCGTAACCCCCGCCTAGCCGGGCCATGGCGGAACGCGGAGGGGCGGGCGGTGGTCCCGGAGGCGCCGGGGGCGGCAGCGGCCAGCGGGGATCCGGGGTCGCCCAGTCCCCTCAGCAGCCGCCGCCGCAGCAGCAGCAGCAGCAGCCGCCGCAGCAGCCGACGCCCCCCAAGCTGGCCCAGGCCACCTCGTCGTCCTCGTCCACCTCGGCGGCGGCTGCCTCCTCCTCGTCCTCGTCTACCTCCACCTCCATGGCCGTGGCGGTGGCCTCCGCGCCTCCCGGTGGCCCGGGGCCAGGCCGCACCCCCGCCCCGGTGCAGATGAACCTGTACGCCACCTGGGAGGTGGACCGGAGCTCGTCCAGCTGCGTGCCTAGGTGAGCGCGGGAGGGTGCGGCGGGGCGCCGGGGGAGCGGGGTGGCCGCCGGGGCCCAGCCCTCCCCGCCCCAGCGCCCATGGGGTCCCCGCCCTCCATCTCCCCGACTGTCCCGCGGCCCGGCCTGGCTCCAGCCAGGCCTCCCGGGACTCCTGCCACGGGGACCCGCCCTCTCCTGGCAGCCCCACCTTCTGCCTGGGGCCGGGACCACCCTTCTGTCCTCCCCGAGGGACCTTCTGGCCTCGGCCCCGGGCTTTCTCCGATTGGGCTGACCGAATCCGGCCTTCCTGGCAGTCAGTTTCCCTGAGTAAGTCACTCTCCTGCCTCGCCGGCGCCGGGAGCTGTACATACATGGATGTGGTATAGATCTCTTGATATTATTATTTCCCAATAGACTCAGCATGTGCCAAACTCGATTGTCACCTCTTGCAGGTAAAGCTCATATAATCACCCTAGGGGCTTCTCATTAGCCTTCGGCACACATGTTCATTTGAACTTCATATTACACACGTTCTGTCCCAAGCGCTAGGCTCTTAGTTTTGGGGCCCTATTTAATGTGTCCTCAAGTGTATTTTTACCTCCCCTCCCCCACTAAAACTGGTCCCAGAATCTCCCAGCTCTGCAGGGCTGTATGAAATTACTGCCTTGTTCCTAAATTCAATCCATTGCTCTCTGTCTGTTGGAACCATCTGGGGACTTTCCTTCCATTGGCAAAATAGGCCTGAGTTTGGGAATATTTTCTGTTTTTGTATTGGCAAGGCAGTCTGTCTCCAACTCTGGGGACAGGGTGCTGTGTCTTACAGTTTGCCACTTGAATAAGACGGTGTGTGGAGCTGGTTTCACCCAGAAAGCCCAGAGAAGTGCCTGGAGGTGTTCTTTTTTGTCACCTTGTAGCTGAGTTGATTCTGTTGCCTTGAAGTCTTGGGCTGTCTCCTCACTGTTGGTTAGGCAGACGGATGTGTAAGTCAGAGTTAGAGAGGATTGCTGGGCTCCCCCCTCGACTGTCTTCCTTTCCCCACCTTTATTCTGGATAATATTGTTTTATATATATATCCCAGATAGGAATGATGAGAGTACATCTTTCTGTTTCGCTCAGCTTAAGGAACAGAGCATTATCGCTTCTGTTGAAGCTCTCAGGGTGCCCCTTCCTGACTGTCTCCCCTCTTCCTTCTACAAAGGTAAACACTATTTTGAATTGTGTTTATCATTTCCCTTGTTAGAAAAAAATTAGTTTTACTACATAATGCATCTCTATATATTTTATAGTTCTGAATGTTCTTGAAGTTTGTGTACATGGTGTCATCCTGTATGTGTTCTGTGACTTGATTGGTTTTTTTATTTTTTTTTAAATCAGCATTAGGTTTGTGAGAATCATCCATGTGGTATGGTAGCCATAGTTTAAATATTTTCATGATGGGTAGTATTCTGTTGTGTGAATGAATATACCGTAATTCTCTTGAATATGTAGGTTGTTTCCTGTTTAACACCCACAGTAATGCACACATTTCCCCCCAGGACTCCTAGTGCTCTTGTGCAGAAGTTTCTTTAGGTTGTATTCATATGGAGGGGTGGGATTGCCGCTCGCAGGGTATAGATCTGGGACTTCACTAGGCAAAAGTAGATTGTTTCCACAGGCTGCTTCCACTCTGTGTTTCCACATCACTTAACAGATTTACACATTGTTTTTTTTTTCTCTGTCCTTTCTCTAGGGAAATCAGGAGCCACATTAATTTAGTTTGCTGTGGCCAGATCCATAGCACAACACCAAGCTCAAGCGAGAGTTGAGTATGTGATGGTGTTCCTCTCTTGATCCTAAGCAGGCCTCTCTCTTTCTATACAGGCCCATCTATCGCTGAAGTATCCTAACCCACCTCTTTCACACATAGAAACACTGTGTTCCTTCCTACGTGGGTCCAGTCTTTCCCATTTCTCCTNNNNNN | benign | 178,666 |
Determine if the mutation at chromosome 11, position 66239134 in gene PACS1 (phosphofurin acidic cluster sorting protein 1) is benign or pathogenic. If pathogenic, what disease(s) is associated? | benign | TTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCTTGACCTCGTGATCCGGCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCCCTGTGCACGGCATGCCCGGCTAATTTTTGTATTTTTCTGCTGAGATGGCATTTCGCCATGGTGCCCAGGCTGGTCTCAAACTCTTGGACTCAGGAGATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCCCACCAGCTTGTATCTTTTTTTGTAATTTCCTTGAGGCTCCCTCGTAGCTTCTAGACAGGGAGGGGCTCATGTGGATGAGGGGGCCTAGCTCCCTGCTCTCCCTGCTTTCTGCGCATCCAAGATGTGGGTGTCTTGAGTGATCTCAGGAGATACCTGAGCTGGGGAAATCCAGCAGCCCTTTCTCGTGCCTTGCAGAGCCTCCTGTCCTGCAGTCTAGCCAGTCCCCGGTTAGCCCCTGGGCTGCTCCCATAGCCACATTACAGGCCCCAAGACCATGGCCCATAGCTGTGGCTGGTGGTTTGACACATCTTCGTGGAGCTGTGAGTTGCTGCTCACTCAGGCCTCGCAACCGAGAGAGACAGAGAGATAACAAATTTAAAACAAATTAAAAACCAAAAGAGCTAGCAACCTCACCAAATGCCAGGCAAACAAGGAGAGAAGGGGAGTTGTATCCAGGAAGCCCCAGAGTGGCAATTTGTTCCTCTCTGGGAATCAAAAGAAGGGCGCATAGAGAATCGGGACAGACTTCAGCAAACACAGCCTTGCTGTCGCGGCAGCCTCCAGGCAACCACCTGCAGGCCTGTGCGGTAGATTTCGCCCCATCAGGGTCCAGCCCTCTGGACTCCCAGCCCAGCTGCCTCTTTGCCTAGGCCTGGGCCCAGGTGATAGGGCCCAGGACTTTACCTGTCACTTCAGACCACAGCCTGGATGCTCACCTAGTCTGTGGCTGTGTTCTTTTCTAGCCACTGGAGGGCCCAGGCTGTCCTTTCCAGAATTCTCTATGGAGAATTGAAAATTCCTAAAGAACCCCCCCACCCCCATTCAGTACACTTCCAGATTCCAGGAAGACCAGAGAGGAGAAGGCTGGTGTCCACACCTTAGCACGTCCACTTGGCTTTAGACTCTCCCACCTGGCAGAGACAGAGCCATCTTCCTAGGCCCTCTGCCCACAGGACCTTAGAGAAACAACATCAGGACATCACAGTGATTCCTGCCTTCAGCCCTTTATCCCCAGAGAAGAGCTGCAAAGTCTCGCATGCCCCATCTCATTGTTGCAACTAGGTTTTGTTGTTTTTTGTTTGTTTGTTTCTACAGCTGGGCTGCTCCAGATTTGCAAAGATTTTTTTATTTACTTATTTATTTGATGTATTTATTTATTTTGAGATGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCCATCTCAGCTCACTGAAACCTCCGCCTCTCAGGTTCAAGCGATTCTCCTATCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATAAGCCACCACGCCCAGCCCAGATTTGCAAAGATTTTAAAGTCGGCAATAAAATAATGTGTAGTGATGGCTCTTGTGCCACCAATGTGTTTCTGGTTGGATCAGAACATGCCTGCTTTAACAGGAGGATCTAATGAGTGCCTCTTCTCTCCTTGCAGGTGGTGAAGGTGGGTCTGGTTGAAGACTCTCCCTCCACAGCAGGTGAGGCTGGGGCTCCCTTGTTCTGTGGAGTGAGGCTGGTGCCCTCCCTGTCTTCCCTCTAGTCCAGCAGGCCAGAAGTTAAGCTCTGGATGCCCTGAGGGAAGTCAGAGCTTGAGCAGGAAGCCTATGGGCGCCCTCACTCCCCTGCTGCGGTGGTGGCTGGGGGAGGTGGAAGGAGCCTGGGGCCAAAGGAGGAAAGCAGGCCACAGGATGGGAGGAACCCCGGCTCCTTGCCACCACCAAGTCAGAGATAGCTTCCTCTGGCCAACTGTGTTTGTCGTTTGTCCCCTGACAGGCGATGGGGACGATTCTCCTGTGGTCAGCCTTACTGTGCCCTCCACATCACCACCCTCCAGCTCGGGCCTGAGCCGAGACGCCACGGCCACCCCTCCCTCCTCCCCATCTATGAGCAGCGCCCTGGCCATCGTGGGGTAAGGCTCCTGCCCGTACCTGTCCTGCCATGCCCTCCATCAGGCCCACCCGGCTGATTCCAGTGACAGGCGCATGGGCTTAGAAGGTAGCCACAGGAAGCCGGGCGTGGTAGTGCACACCTGTGGTCCTAGCTACTCAGGCTGAGGCAGGAGGATTGCTTGAGCCCAGGAATTTGAGGCTGCAGTGAGCCATGACTGCGCCACTGCACTGTAGCCTGTGTGACAGCAAGACCCTGTCTCTCAAAAAAAAACCCAAAACACTAAAGTTAGAATTCAGAGACATATCACTAGCCGGCCTGGTCATGGGAGGACACTTTCTGCCCTGTTTCACAGTATTGGGTTGAATGAGACAATGTTGGCAGAGGCCTGTGAAGTGCTGTGCAAGTGTCTTGTTATGGGACCTCCCAGGTGTTGTTATGGGACCTCCCAGGTGCAAGAAAGAGCATGGCACTTGGGAAATAAAACACACGTGGGTTTGAGTGGTTCTGTCTTGTCTCTGCACTGCCTTAGCTTAGACAAGTTACTGAACTTCAATTTCATCTAATGAAAAGAGGTGAAGTGGCCACCTTGCAGGACTGTGGAGCAGGTTACATAAGAACGTGGAAACCAGGCCTCATCCTGTAGTTCCAGCCACTCCGGAGGCCAAGGCCGGAGGATCGCTTGAGCCCAGGAGTTCAAAGCTAGGCCTGGGCCACGTAGTGACGTGGATTGGGCTGTTCTTTCTAGTGTCTTCCTTTTTTCTTCTTTTTTAGGGACGTGGATTGTCTCCTTTGGTGACAGTCAGAGGGCCTCTCTAAAGGAAACAATCCACGTCTCTAAAAAAGAGAAAAAGAACATGCGTGTCAGTGCCTGGCACAGTGAGGCAGCCCTGCTGAGGCGCTAGAGCTGGAGCCGGCGCGGGAGCAAGCGGCGGAGCTCGGGTTCAGGCTGAATCTCTGAGACCACTGGAAGCAGTGATATAGCAGGAGGCCGTGTCTTTAGGATCTCAAGTATCTACAGTTTAGATCAAGGGTCCAGCAGCAGGGGGCAGAGAGAGGGTGGAGGGGTGGGCTCCTGACAAGAAGGCCGAGGTGAGGAGAGCAGGCGTGGTCAGCGCTGGGAAGGAGCAGCCTGCCTTCCCTTCCCCCATTTCGCTGCCTTCCGCCTTCGCCTCTTCCCTTTCCTTGTAGCAACAGCGAGGATGGCATTGGCCGGTGGCTTCCCCCAAAGTGCTAGTAATGTGTTGGGTGGCACGAAGCCTGCCCCGGAGCTAGAATCCCAGTCCCTGGTCTCCCTCAGCCTCTGCTCCTCGGGGCACTTCCCTTCAGGGTCTTCTGGAGGGAACAGTAGAGGAAAGGAGGAAGTACCCACGCAGCCAAGTTCTGCCCTGGGGACCTCAGGTTCCTGGCCTCCTGGAGGCGTTTTCTCTCATCTCACCCCACAGCGGAAGGGTTTCTGTCCAGCATGGGTTTGGGGAGCCTTGGCACCAACCCTTTCCTCTACCTCCTTTCCCTTCCAAGTTAATCTTGTTTTTTAATGGAACCTCCAAAATGAGGCAGAAAGAGAAAAGTCAGATGACTTTCCTAGCCTGTGTACCTATTGTGTCTGACACCTCCTTTCAAGACATACCAGCCCTTCTCCCGGGAGCTAAAATTATCGCTGAGCTAAGAGTGCCATGAAAAGGAGAAAGCTGCAGGTCGGGTGGCACCAGCTGCTGTCCTGAGGCTGCACTGGAGCCGCCCGCAGGGGCTTCTGCCGGGCTCAGGCCTTCTCTCCAGCTCGAGGCTCAGTTTGGCCCAGGCTTTGCCTGCTGGGCGTGTATGTGTGTGTGTGTGTGTTATATGTGTGTATATGTGTGTGCACGCATGCACTTATGTACACACACACTTTCTTCCTTCATAAAGCTTCCTTCTCTGCTGCCCTTG | TTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCTTGACCTCGTGATCCGGCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCCCTGTGCACGGCATGCCCGGCTAATTTTTGTATTTTTCTGCTGAGATGGCATTTCGCCATGGTGCCCAGGCTGGTCTCAAACTCTTGGACTCAGGAGATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCCCACCAGCTTGTATCTTTTTTTGTAATTTCCTTGAGGCTCCCTCGTAGCTTCTAGACAGGGAGGGGCTCATGTGGATGAGGGGGCCTAGCTCCCTGCTCTCCCTGCTTTCTGCGCATCCAAGATGTGGGTGTCTTGAGTGATCTCAGGAGATACCTGAGCTGGGGAAATCCAGCAGCCCTTTCTCGTGCCTTGCAGAGCCTCCTGTCCTGCAGTCTAGCCAGTCCCCGGTTAGCCCCTGGGCTGCTCCCATAGCCACATTACAGGCCCCAAGACCATGGCCCATAGCTGTGGCTGGTGGTTTGACACATCTTCGTGGAGCTGTGAGTTGCTGCTCACTCAGGCCTCGCAACCGAGAGAGACAGAGAGATAACAAATTTAAAACAAATTAAAAACCAAAAGAGCTAGCAACCTCACCAAATGCCAGGCAAACAAGGAGAGAAGGGGAGTTGTATCCAGGAAGCCCCAGAGTGGCAATTTGTTCCTCTCTGGGAATCAAAAGAAGGGCGCATAGAGAATCGGGACAGACTTCAGCAAACACAGCCTTGCTGTCGCGGCAGCCTCCAGGCAACCACCTGCAGGCCTGTGCGGTAGATTTCGCCCCATCAGGGTCCAGCCCTCTGGACTCCCAGCCCAGCTGCCTCTTTGCCTAGGCCTGGGCCCAGGTGATAGGGCCCAGGACTTTACCTGTCACTTCAGACCACAGCCTGGATGCTCACCTAGTCTGTGGCTGTGTTCTTTTCTAGCCACTGGAGGGCCCAGGCTGTCCTTTCCAGAATTCTCTATGGAGAATTGAAAATTCCTAAAGAACCCCCCCACCCCCATTCAGTACACTTCCAGATTCCAGGAAGACCAGAGAGGAGAAGGCTGGTGTCCACACCTTAGCACGTCCACTTGGCTTTAGACTCTCCCACCTGGCAGAGACAGAGCCATCTTCCTAGGCCCTCTGCCCACAGGACCTTAGAGAAACAACATCAGGACATCACAGTGATTCCTGCCTTCAGCCCTTTATCCCCAGAGAAGAGCTGCAAAGTCTCGCATGCCCCATCTCATTGTTGCAACTAGGTTTTGTTGTTTTTTGTTTGTTTGTTTCTACAGCTGGGCTGCTCCAGATTTGCAAAGATTTTTTTATTTACTTATTTATTTGATGTATTTATTTATTTTGAGATGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCCATCTCAGCTCACTGAAACCTCCGCCTCTCAGGTTCAAGCGATTCTCCTATCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATAAGCCACCACGCCCAGCCCAGATTTGCAAAGATTTTAAAGTCGGCAATAAAATAATGTGTAGTGATGGCTCTTGTGCCACCAATGTGTTTCTGGTTGGATCAGAACATGCCTGCTTTAACAGGAGGATCTAATGAGTGCCTCTTCTCTCCTTGCAGGTGGTGAAGGTGGGTCTGGTTGAAGACTCTCCCTCCACAGCAGGTGAGGCTGGGGCTCCCTTGTTCTGTGGAGTGAGGCTGGTGCCCTCCCTGTCTTCCCTCTAGTCCAGCAGGCCAGAAGTTAAGCTCTGGATGCCCTGAGGGAAGTCAGAGCTTGAGCAGGAAGCCTATGGGCGCCCTCACTCCCCTGCTGCGGTGGTGGCTGGGGGAGGTGGAAGGAGCCTGGGGCCAAAGGAGGAAAGCAGGCCACAGGATGGGAGGAACCCCGGCTCCTTGCCACCACCAAGTCAGAGATAGCTTCCTCTGGCCAACTGTGTTTGTCGTTTGTCCCGACAGGCGATGGGGACGATTCTCCTGTGGTCAGCCTTACTGTGCCCTCCACATCACCACCCTCCAGCTCGGGCCTGAGCCGAGACGCCACGGCCACCCCTCCCTCCTCCCCATCTATGAGCAGCGCCCTGGCCATCGTGGGGTAAGGCTCCTGCCCGTACCTGTCCTGCCATGCCCTCCATCAGGCCCACCCGGCTGATTCCAGTGACAGGCGCATGGGCTTAGAAGGTAGCCACAGGAAGCCGGGCGTGGTAGTGCACACCTGTGGTCCTAGCTACTCAGGCTGAGGCAGGAGGATTGCTTGAGCCCAGGAATTTGAGGCTGCAGTGAGCCATGACTGCGCCACTGCACTGTAGCCTGTGTGACAGCAAGACCCTGTCTCTCAAAAAAAAACCCAAAACACTAAAGTTAGAATTCAGAGACATATCACTAGCCGGCCTGGTCATGGGAGGACACTTTCTGCCCTGTTTCACAGTATTGGGTTGAATGAGACAATGTTGGCAGAGGCCTGTGAAGTGCTGTGCAAGTGTCTTGTTATGGGACCTCCCAGGTGTTGTTATGGGACCTCCCAGGTGCAAGAAAGAGCATGGCACTTGGGAAATAAAACACACGTGGGTTTGAGTGGTTCTGTCTTGTCTCTGCACTGCCTTAGCTTAGACAAGTTACTGAACTTCAATTTCATCTAATGAAAAGAGGTGAAGTGGCCACCTTGCAGGACTGTGGAGCAGGTTACATAAGAACGTGGAAACCAGGCCTCATCCTGTAGTTCCAGCCACTCCGGAGGCCAAGGCCGGAGGATCGCTTGAGCCCAGGAGTTCAAAGCTAGGCCTGGGCCACGTAGTGACGTGGATTGGGCTGTTCTTTCTAGTGTCTTCCTTTTTTCTTCTTTTTTAGGGACGTGGATTGTCTCCTTTGGTGACAGTCAGAGGGCCTCTCTAAAGGAAACAATCCACGTCTCTAAAAAAGAGAAAAAGAACATGCGTGTCAGTGCCTGGCACAGTGAGGCAGCCCTGCTGAGGCGCTAGAGCTGGAGCCGGCGCGGGAGCAAGCGGCGGAGCTCGGGTTCAGGCTGAATCTCTGAGACCACTGGAAGCAGTGATATAGCAGGAGGCCGTGTCTTTAGGATCTCAAGTATCTACAGTTTAGATCAAGGGTCCAGCAGCAGGGGGCAGAGAGAGGGTGGAGGGGTGGGCTCCTGACAAGAAGGCCGAGGTGAGGAGAGCAGGCGTGGTCAGCGCTGGGAAGGAGCAGCCTGCCTTCCCTTCCCCCATTTCGCTGCCTTCCGCCTTCGCCTCTTCCCTTTCCTTGTAGCAACAGCGAGGATGGCATTGGCCGGTGGCTTCCCCCAAAGTGCTAGTAATGTGTTGGGTGGCACGAAGCCTGCCCCGGAGCTAGAATCCCAGTCCCTGGTCTCCCTCAGCCTCTGCTCCTCGGGGCACTTCCCTTCAGGGTCTTCTGGAGGGAACAGTAGAGGAAAGGAGGAAGTACCCACGCAGCCAAGTTCTGCCCTGGGGACCTCAGGTTCCTGGCCTCCTGGAGGCGTTTTCTCTCATCTCACCCCACAGCGGAAGGGTTTCTGTCCAGCATGGGTTTGGGGAGCCTTGGCACCAACCCTTTCCTCTACCTCCTTTCCCTTCCAAGTTAATCTTGTTTTTTAATGGAACCTCCAAAATGAGGCAGAAAGAGAAAAGTCAGATGACTTTCCTAGCCTGTGTACCTATTGTGTCTGACACCTCCTTTCAAGACATACCAGCCCTTCTCCCGGGAGCTAAAATTATCGCTGAGCTAAGAGTGCCATGAAAAGGAGAAAGCTGCAGGTCGGGTGGCACCAGCTGCTGTCCTGAGGCTGCACTGGAGCCGCCCGCAGGGGCTTCTGCCGGGCTCAGGCCTTCTCTCCAGCTCGAGGCTCAGTTTGGCCCAGGCTTTGCCTGCTGGGCGTGTATGTGTGTGTGTGTGTGTTATATGTGTGTATATGTGTGTGCACGCATGCACTTATGTACACACACACTTTCTTCCTTCATAAAGCTTCCTTCTCTGCTGCCCTTGNN | benign | 178,748 |
Variant at chromosome position 66510675, chromosome 11, gene BBS1 (Bardet-Biedl syndrome 1): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Bardet-Biedl_syndrome', 'Bardet-Biedl_syndrome_1', 'Retinal_dystrophy'] | ATTCTCCAGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCTCATGCCACCACGCCCAGCTAATTTTTTTGTATGTTTAGTATAAACAGTGTTTCATCATGTTGGCCAAGCTGGTCTCAAACTCCTGACCTCAGGTGATCCTCCCACCTCAGCCTACCAAGGTGCTAGGATTACAGGCATGAGCCACCATGCCCAGCCTAAATCTTTATTTGATTGACTGAATGAACGAAAGCAGCAATGCATTTAATACTCCCCCTGTAGTATTTCCTTCCTCACAGGGTTACTGTAAAGAGTAAATTAAGTAATTAACCTAAAACGTAGAGCACAGGTTTTTTTGGCAGAGCTCAGTAAGAAACAGCTGCTGCTGTAATTGTGATTATTAAGATTTTTATGATGATTCAGTTTCCCTATTCAGACCTTTCCCTGCTGTTTTCTCTCCATCTCCTCCCCAGGCTCAGACGTGCAGCTTCTGGAATACGAGGCGTCAGCTGCTGGCCTCATCCGATCCTTCTCTGAGCGTTTCCCAGAGGATGGACCCGAGTTGGAGGAGATCCTCACACAGCTGGCCACAGCCGATGCCCGATTCTGGAAGGGCCCCAGTGAGGCCCCATCTGGCCAAGCTTGAGGAAGATGTGTGGCCTTGCCCCCAATTCCATCAGACCAAGGCTGCAAGTGGCCCTCCATTCGTGTGTGTATTTAGGGGCTGGGGAGGGGGAGGGGCAGGAGCTTGGACCTTGGTACTACCTCAGCTGAGGGTGGTGACACAACCCCTTCCATTTGTCAGCACTTTCCAGCCTGCCAATTGCTTCCCCTCTGTGATCTCATTTCATCTGCACTGCCATACGTGGAGTGAGCAAGACAGGGCTTACCATCCTGTCTACCAGATGAGGAAATGGCAGTTCTGAGAAGTCACTGGTCTAGATCCCGCAGGTGGCACGTGACAGCTAGGGTTCAAAACGTTCTCACCAAATCCAATGCTCCTCACATATTAATTTTATAACCAGACAAATAAATATTAGAGACAACCACCATCTTTGCGGCGTGTGTGGCTCCTCCTTGCCTTTGCCTGTCTTCTCATTTACTCCCAGCAGAGTGATGGGCTCAAGGCCTGGGGAGGGGGCAAGGAGGGCCATTTTTAGCCTCCCTTCCACAACAGGATGTTGACATTATCTCTAGATGAGGATACGCAGTCACAGAGCTGAACATAGCACAATTTTTGCAGCTCTCCTTTGTGGCATTCCTTGCATTTTTAAATGTTCTGGGGCCGGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGAGGGGATCACGAGGTCAGGAGTTCGAGACCGGCTTGGCCAATATGGTGAAACCTCGTCTCTACTAAAAAATAAAGTAGCTGGGCATGGTGGCATGCGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCCCTGGAACCCGGGAGGCGGAGGTTGCGGTGAGCCGAAATCGCGCTACTGCGCTCCAGCGCAAGCGACAGAGCGAGACTACGTCTCAAAAAAAAAAAAAAAAAAAAAAAGTTCTGGGAACCTACAAACTCAACTTCAGTCAGAATCCTCTGCATTTGTCCCATAACCCTCGTGTTTTGTTTCTCTGGGCCTGGACCTCTACAGTAACGCAGCAAGGCAGGACATGGTCCTTTTCAACCGGGTAACCATGAAGATGGAGACAGGAGGAGTTCTTTTTGCTGCTCATAAATGCTAGAAGGGGCTTCTTTCCAACCCTGGAAGCCAGAGGGCTCTGTGGCTGACCCAGAGATTGTAGGACCCAGACGCCTGGAAAGGTGGCTCTGACTGGGAAGGAGCAAAGATAAATATCTTTGAGGAATCTGAGACAGATTCCTCAACCCAGGAAGGTGGCCAGCGCGTCCTCCTGAGCCTGGGTGGGAAAGCTTGGCGCCCGGAACCTTTGTACTCGCCCTTCCCTGTGCTCGGGCACTATTGGGCGTTACGCGAGGGCGGGGCCGGTTGCCAGGACGACGCCTGCGAAGATGGCCGCTGCGTCCTCATCGGATTCCGACGCCTGCGGAGCTGAGAGGTGAAGGCAGGGCTCCTCAAGGCCTCTTTTCCCACCCGTGTAAAGAGGGTCCCTTGGTCCCCGGGCTCTGGGCTCCTGCTGTTCTCGGGCAGTCTGGAAGGACTCTTAAGAGGTCAGATAGGGAAACCGAGGCCTAAGATGTGCATATGTGTGTCTGGAGGTCGCTCGGTGAGCCAGTGGCGGAGCCTGGACTTGTACCCAGACGTTCTGTACCTTATGTTCAGAGTGACCTGTACCAGCTTCCTCAAAGTTTTTTTTTCCCCTCCCATGGGACTCACTCCCCAACTGTCTTTCCCCCACTTCCAGCAATGAGGCCAATTCGAAGTGGTTGGATGCGCACTACGACCCAATGGCCAATATCCACACCTTTTCTGCCTGCCTAGGTGAGTCTCTGGAACCAGGAACCCTGGGTTCTAGTGGGATGGGGAGTCAGACAATGGTCCTGTAGTGAAGCCTCTGGGATTCTGAGACTCTGGTTTTGGCCCTTTTGTTTTCCAGCGCTGGCAGATTTACATGGGGATGGGGAATACAAGGTAAGCATATCACCCTAGCCAGGAGAGTTGAGGGTAGGGGGGTGTACCCAGAAATGAGATTTCCTGACGGCTGAAAATAGGCCCAGCATACTCTGGAATTCACATATACTGTGAAAAAGCACATTTAGCGTTAAATTTTGTTTTTATATGGAAAGTGAAGAGAACTTATTGATTTCATAATACAGACTGCAGAAAGTAAAGCAGATCAAATATTTCTGGGGATTCTACTAAGACAAAGCCTCTTAGTTAACCTGATTTCTTTGTTGGAAGGGCAAATCCCTTGGTTGGGGGTGGGCACTAGAATCTGGAGGGAAAGTAAAAAGGAGGGAAGTGAACGTTTGATGTTTATCAAAAGATTTTAAGATGGGCCATGAGCTGTCAATTTTTGAAGCTGGATAATGGGATATATGGGGACTCATTATATGAGTCTCTCTACTTTTGTATGTGAATGAAAATTTTCCATAGTAAAAATGTTACATTTTAAATTTAATTTTAAGGCCAGCAATCCCAGCACTTTGGGAGGCTGAGGTGGGTGGATCGCTTGAGCTTAGGCATTCGAGACCAGCCTGTCCAACATGGTGAAACACCATCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTGATGGGCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGGTCAAACCCAGGAGGCGGAGGTTGAGTGAGCTGAGACCATGCCACTACACTCCAGCCTGGATGACAGAGTGAGACAGTTTCAAAAAAAAATATATATATATATATGTGTATATATATGTATATATATGTATATATATGTGTATATATATGTATATATATATACATATATTTAATTTTAAATAAAAATGTAAATTTAAAAAGATACAAGTTTTTTAAAGGTAGAGAAATATATTGGGATAAAAGAAAGGAAGTTAGCATGGATTCAGTATCCATTTCTGGACTAGACATTCCATGGAGGCACATAAACATGGATTTTATTTATTCCCATTTTGTGAATGGGAAAATAGTTTCAAAGAGGTGAAGTTTACTGAATTTGTAACTGGGTCTGTTTGATTCCAAGTTTTGTGCTTTTTCTACCAAAGCTCAGCCCTCACCATGGGCAACAACACCACAATGGATATATCATGTGGGTGGCTAGAAGATAGTCCTGGAATCCCACCCCACACAGAGAGTGCAATAGGACTCAGTGGTTTTTGCCCCCAAATTCCTATCCATAATGTATTCAGTAATTCAGCAAGTGTATAGTGAGTCCCTACTGTGTGTCAGGCATCATGGGGACACTACACTCAGAAATGCATCAGCATGTGGTCAGGAGGAGATACACTGTCGACAATTATTCCATGATATTGATTGAATACCTAGTTTGTATTTGGCTCTGGGCTTACAATAGTGAGGGAAGAGAAACCACAGACACAGTAGCTAATAAGAAATGTTAGCCAGGCACAGTGGCTCATGCCTGTAATCCCAG | ATTCTCCAGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCTCATGCCACCACGCCCAGCTAATTTTTTTGTATGTTTAGTATAAACAGTGTTTCATCATGTTGGCCAAGCTGGTCTCAAACTCCTGACCTCAGGTGATCCTCCCACCTCAGCCTACCAAGGTGCTAGGATTACAGGCATGAGCCACCATGCCCAGCCTAAATCTTTATTTGATTGACTGAATGAACGAAAGCAGCAATGCATTTAATACTCCCCCTGTAGTATTTCCTTCCTCACAGGGTTACTGTAAAGAGTAAATTAAGTAATTAACCTAAAACGTAGAGCACAGGTTTTTTTGGCAGAGCTCAGTAAGAAACAGCTGCTGCTGTAATTGTGATTATTAAGATTTTTATGATGATTCAGTTTCCCTATTCAGACCTTTCCCTGCTGTTTTCTCTCCATCTCCTCCCCAGGCTCAGACGTGCAGCTTCTGGAATACGAGGCGTCAGCTGCTGGCCTCATCCGATCCTTCTCTGAGCGTTTCCCAGAGGATGGACCCGAGTTGGAGGAGATCCTCACACAGCTGGCCACAGCCGATGCCCGATTCTGGAAGGGCCCCAGTGAGGCCCCATCTGGCCAAGCTTGAGGAAGATGTGTGGCCTTGCCCCCAATTCCATCAGACCAAGGCTGCAAGTGGCCCTCCATTCGTGTGTGTATTTAGGGGCTGGGGAGGGGGAGGGGCAGGAGCTTGGACCTTGGTACTACCTCAGCTGAGGGTGGTGACACAACCCCTTCCATTTGTCAGCACTTTCCAGCCTGCCAATTGCTTCCCCTCTGTGATCTCATTTCATCTGCACTGCCATACGTGGAGTGAGCAAGACAGGGCTTACCATCCTGTCTACCAGATGAGGAAATGGCAGTTCTGAGAAGTCACTGGTCTAGATCCCGCAGGTGGCACGTGACAGCTAGGGTTCAAAACGTTCTCACCAAATCCAATGCTCCTCACATATTAATTTTATAACCAGACAAATAAATATTAGAGACAACCACCATCTTTGCGGCGTGTGTGGCTCCTCCTTGCCTTTGCCTGTCTTCTCATTTACTCCCAGCAGAGTGATGGGCTCAAGGCCTGGGGAGGGGGCAAGGAGGGCCATTTTTAGCCTCCCTTCCACAACAGGATGTTGACATTATCTCTAGATGAGGATACGCAGTCACAGAGCTGAACATAGCACAATTTTTGCAGCTCTCCTTTGTGGCATTCCTTGCATTTTTAAATGTTCTGGGGCCGGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGAGGGGATCACGAGGTCAGGAGTTCGAGACCGGCTTGGCCAATATGGTGAAACCTCGTCTCTACTAAAAAATAAAGTAGCTGGGCATGGTGGCATGCGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCCCTGGAACCCGGGAGGCGGAGGTTGCGGTGAGCCGAAATCGCGCTACTGCGCTCCAGCGCAAGCGACAGAGCGAGACTACGTCTCAAAAAAAAAAAAAAAAAAAAAAAGTTCTGGGAACCTACAAACTCAACTTCAGTCAGAATCCTCTGCATTTGTCCCATAACCCTCGTGTTTTGTTTCTCTGGGCCTGGACCTCTACAGTAACGCAGCAAGGCAGGACATGGTCCTTTTCAACCGGGTAACCATGAAGATGGAGACAGGAGGAGTTCTTTTTGCTGCTCATAAATGCTAGAAGGGGCTTCTTTCCAACCCTGGAAGCCAGAGGGCTCTGTGGCTGACCCAGAGATTGTAGGACCCAGACGCCTGGAAAGGTGGCTCTGACTGGGAAGGAGCAAAGATAAATATCTTTGAGGAATCTGAGACAGATTCCTCAACCCAGGAAGGTGGCCAGCGCGTCCTCCTGAGCCTGGGTGGGAAAGCTTGGCGCCCGGAACCTTTGTACTCGCCCTTCCCTGTGCTCGGGCACTATTGGGCGTTACGCGAGGGCGGGGCCGGTTGCCAGGACGACGCCTGCGAAGATGGCCGCTGCGTCCTCCATCGGATTCCGACGCCTGCGGAGCTGAGAGGTGAAGGCAGGGCTCCTCAAGGCCTCTTTTCCCACCCGTGTAAAGAGGGTCCCTTGGTCCCCGGGCTCTGGGCTCCTGCTGTTCTCGGGCAGTCTGGAAGGACTCTTAAGAGGTCAGATAGGGAAACCGAGGCCTAAGATGTGCATATGTGTGTCTGGAGGTCGCTCGGTGAGCCAGTGGCGGAGCCTGGACTTGTACCCAGACGTTCTGTACCTTATGTTCAGAGTGACCTGTACCAGCTTCCTCAAAGTTTTTTTTTCCCCTCCCATGGGACTCACTCCCCAACTGTCTTTCCCCCACTTCCAGCAATGAGGCCAATTCGAAGTGGTTGGATGCGCACTACGACCCAATGGCCAATATCCACACCTTTTCTGCCTGCCTAGGTGAGTCTCTGGAACCAGGAACCCTGGGTTCTAGTGGGATGGGGAGTCAGACAATGGTCCTGTAGTGAAGCCTCTGGGATTCTGAGACTCTGGTTTTGGCCCTTTTGTTTTCCAGCGCTGGCAGATTTACATGGGGATGGGGAATACAAGGTAAGCATATCACCCTAGCCAGGAGAGTTGAGGGTAGGGGGGTGTACCCAGAAATGAGATTTCCTGACGGCTGAAAATAGGCCCAGCATACTCTGGAATTCACATATACTGTGAAAAAGCACATTTAGCGTTAAATTTTGTTTTTATATGGAAAGTGAAGAGAACTTATTGATTTCATAATACAGACTGCAGAAAGTAAAGCAGATCAAATATTTCTGGGGATTCTACTAAGACAAAGCCTCTTAGTTAACCTGATTTCTTTGTTGGAAGGGCAAATCCCTTGGTTGGGGGTGGGCACTAGAATCTGGAGGGAAAGTAAAAAGGAGGGAAGTGAACGTTTGATGTTTATCAAAAGATTTTAAGATGGGCCATGAGCTGTCAATTTTTGAAGCTGGATAATGGGATATATGGGGACTCATTATATGAGTCTCTCTACTTTTGTATGTGAATGAAAATTTTCCATAGTAAAAATGTTACATTTTAAATTTAATTTTAAGGCCAGCAATCCCAGCACTTTGGGAGGCTGAGGTGGGTGGATCGCTTGAGCTTAGGCATTCGAGACCAGCCTGTCCAACATGGTGAAACACCATCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTGATGGGCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGGTCAAACCCAGGAGGCGGAGGTTGAGTGAGCTGAGACCATGCCACTACACTCCAGCCTGGATGACAGAGTGAGACAGTTTCAAAAAAAAATATATATATATATATGTGTATATATATGTATATATATGTATATATATGTGTATATATATGTATATATATATACATATATTTAATTTTAAATAAAAATGTAAATTTAAAAAGATACAAGTTTTTTAAAGGTAGAGAAATATATTGGGATAAAAGAAAGGAAGTTAGCATGGATTCAGTATCCATTTCTGGACTAGACATTCCATGGAGGCACATAAACATGGATTTTATTTATTCCCATTTTGTGAATGGGAAAATAGTTTCAAAGAGGTGAAGTTTACTGAATTTGTAACTGGGTCTGTTTGATTCCAAGTTTTGTGCTTTTTCTACCAAAGCTCAGCCCTCACCATGGGCAACAACACCACAATGGATATATCATGTGGGTGGCTAGAAGATAGTCCTGGAATCCCACCCCACACAGAGAGTGCAATAGGACTCAGTGGTTTTTGCCCCCAAATTCCTATCCATAATGTATTCAGTAATTCAGCAAGTGTATAGTGAGTCCCTACTGTGTGTCAGGCATCATGGGGACACTACACTCAGAAATGCATCAGCATGTGGTCAGGAGGAGATACACTGTCGACAATTATTCCATGATATTGATTGAATACCTAGTTTGTATTTGGCTCTGGGCTTACAATAGTGAGGGAAGAGAAACCACAGACACAGTAGCTAATAAGAAATGTTAGCCAGGCACAGTGGCTCATGCCTGTAATCCCA | pathogenic | 178,833 |
Determine whether the variant at chromosome 11, position 66511034, in gene BBS1 (Bardet-Biedl syndrome 1) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Bardet-Biedl_syndrome', 'Bardet-Biedl_syndrome_1'] | TGCTGCTGTAATTGTGATTATTAAGATTTTTATGATGATTCAGTTTCCCTATTCAGACCTTTCCCTGCTGTTTTCTCTCCATCTCCTCCCCAGGCTCAGACGTGCAGCTTCTGGAATACGAGGCGTCAGCTGCTGGCCTCATCCGATCCTTCTCTGAGCGTTTCCCAGAGGATGGACCCGAGTTGGAGGAGATCCTCACACAGCTGGCCACAGCCGATGCCCGATTCTGGAAGGGCCCCAGTGAGGCCCCATCTGGCCAAGCTTGAGGAAGATGTGTGGCCTTGCCCCCAATTCCATCAGACCAAGGCTGCAAGTGGCCCTCCATTCGTGTGTGTATTTAGGGGCTGGGGAGGGGGAGGGGCAGGAGCTTGGACCTTGGTACTACCTCAGCTGAGGGTGGTGACACAACCCCTTCCATTTGTCAGCACTTTCCAGCCTGCCAATTGCTTCCCCTCTGTGATCTCATTTCATCTGCACTGCCATACGTGGAGTGAGCAAGACAGGGCTTACCATCCTGTCTACCAGATGAGGAAATGGCAGTTCTGAGAAGTCACTGGTCTAGATCCCGCAGGTGGCACGTGACAGCTAGGGTTCAAAACGTTCTCACCAAATCCAATGCTCCTCACATATTAATTTTATAACCAGACAAATAAATATTAGAGACAACCACCATCTTTGCGGCGTGTGTGGCTCCTCCTTGCCTTTGCCTGTCTTCTCATTTACTCCCAGCAGAGTGATGGGCTCAAGGCCTGGGGAGGGGGCAAGGAGGGCCATTTTTAGCCTCCCTTCCACAACAGGATGTTGACATTATCTCTAGATGAGGATACGCAGTCACAGAGCTGAACATAGCACAATTTTTGCAGCTCTCCTTTGTGGCATTCCTTGCATTTTTAAATGTTCTGGGGCCGGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGAGGGGATCACGAGGTCAGGAGTTCGAGACCGGCTTGGCCAATATGGTGAAACCTCGTCTCTACTAAAAAATAAAGTAGCTGGGCATGGTGGCATGCGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCCCTGGAACCCGGGAGGCGGAGGTTGCGGTGAGCCGAAATCGCGCTACTGCGCTCCAGCGCAAGCGACAGAGCGAGACTACGTCTCAAAAAAAAAAAAAAAAAAAAAAAGTTCTGGGAACCTACAAACTCAACTTCAGTCAGAATCCTCTGCATTTGTCCCATAACCCTCGTGTTTTGTTTCTCTGGGCCTGGACCTCTACAGTAACGCAGCAAGGCAGGACATGGTCCTTTTCAACCGGGTAACCATGAAGATGGAGACAGGAGGAGTTCTTTTTGCTGCTCATAAATGCTAGAAGGGGCTTCTTTCCAACCCTGGAAGCCAGAGGGCTCTGTGGCTGACCCAGAGATTGTAGGACCCAGACGCCTGGAAAGGTGGCTCTGACTGGGAAGGAGCAAAGATAAATATCTTTGAGGAATCTGAGACAGATTCCTCAACCCAGGAAGGTGGCCAGCGCGTCCTCCTGAGCCTGGGTGGGAAAGCTTGGCGCCCGGAACCTTTGTACTCGCCCTTCCCTGTGCTCGGGCACTATTGGGCGTTACGCGAGGGCGGGGCCGGTTGCCAGGACGACGCCTGCGAAGATGGCCGCTGCGTCCTCATCGGATTCCGACGCCTGCGGAGCTGAGAGGTGAAGGCAGGGCTCCTCAAGGCCTCTTTTCCCACCCGTGTAAAGAGGGTCCCTTGGTCCCCGGGCTCTGGGCTCCTGCTGTTCTCGGGCAGTCTGGAAGGACTCTTAAGAGGTCAGATAGGGAAACCGAGGCCTAAGATGTGCATATGTGTGTCTGGAGGTCGCTCGGTGAGCCAGTGGCGGAGCCTGGACTTGTACCCAGACGTTCTGTACCTTATGTTCAGAGTGACCTGTACCAGCTTCCTCAAAGTTTTTTTTTCCCCTCCCATGGGACTCACTCCCCAACTGTCTTTCCCCCACTTCCAGCAATGAGGCCAATTCGAAGTGGTTGGATGCGCACTACGACCCAATGGCCAATATCCACACCTTTTCTGCCTGCCTAGGTGAGTCTCTGGAACCAGGAACCCTGGGTTCTAGTGGGATGGGGAGTCAGACAATGGTCCTGTAGTGAAGCCTCTGGGATTCTGAGACTCTGGTTTTGGCCCTTTTGTTTTCCAGCGCTGGCAGATTTACATGGGGATGGGGAATACAAGGTAAGCATATCACCCTAGCCAGGAGAGTTGAGGGTAGGGGGGTGTACCCAGAAATGAGATTTCCTGACGGCTGAAAATAGGCCCAGCATACTCTGGAATTCACATATACTGTGAAAAAGCACATTTAGCGTTAAATTTTGTTTTTATATGGAAAGTGAAGAGAACTTATTGATTTCATAATACAGACTGCAGAAAGTAAAGCAGATCAAATATTTCTGGGGATTCTACTAAGACAAAGCCTCTTAGTTAACCTGATTTCTTTGTTGGAAGGGCAAATCCCTTGGTTGGGGGTGGGCACTAGAATCTGGAGGGAAAGTAAAAAGGAGGGAAGTGAACGTTTGATGTTTATCAAAAGATTTTAAGATGGGCCATGAGCTGTCAATTTTTGAAGCTGGATAATGGGATATATGGGGACTCATTATATGAGTCTCTCTACTTTTGTATGTGAATGAAAATTTTCCATAGTAAAAATGTTACATTTTAAATTTAATTTTAAGGCCAGCAATCCCAGCACTTTGGGAGGCTGAGGTGGGTGGATCGCTTGAGCTTAGGCATTCGAGACCAGCCTGTCCAACATGGTGAAACACCATCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTGATGGGCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGGTCAAACCCAGGAGGCGGAGGTTGAGTGAGCTGAGACCATGCCACTACACTCCAGCCTGGATGACAGAGTGAGACAGTTTCAAAAAAAAATATATATATATATATGTGTATATATATGTATATATATGTATATATATGTGTATATATATGTATATATATATACATATATTTAATTTTAAATAAAAATGTAAATTTAAAAAGATACAAGTTTTTTAAAGGTAGAGAAATATATTGGGATAAAAGAAAGGAAGTTAGCATGGATTCAGTATCCATTTCTGGACTAGACATTCCATGGAGGCACATAAACATGGATTTTATTTATTCCCATTTTGTGAATGGGAAAATAGTTTCAAAGAGGTGAAGTTTACTGAATTTGTAACTGGGTCTGTTTGATTCCAAGTTTTGTGCTTTTTCTACCAAAGCTCAGCCCTCACCATGGGCAACAACACCACAATGGATATATCATGTGGGTGGCTAGAAGATAGTCCTGGAATCCCACCCCACACAGAGAGTGCAATAGGACTCAGTGGTTTTTGCCCCCAAATTCCTATCCATAATGTATTCAGTAATTCAGCAAGTGTATAGTGAGTCCCTACTGTGTGTCAGGCATCATGGGGACACTACACTCAGAAATGCATCAGCATGTGGTCAGGAGGAGATACACTGTCGACAATTATTCCATGATATTGATTGAATACCTAGTTTGTATTTGGCTCTGGGCTTACAATAGTGAGGGAAGAGAAACCACAGACACAGTAGCTAATAAGAAATGTTAGCCAGGCACAGTGGCTCATGCCTGTAATCCCAGCACTTTAGGAGGAGGCCAAGGCGGGTGGATCACGAGGTCAGGAGTTTGAGACCAGCCTGGACAACATGGTGAAACCCTGTCTGTACTAAAAATACAAAAATCAGCCGGGCGTGGTGGCAGGCGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCTTGAAACCAGAAGGCGGAGGTTGCAGTGAGCCGAAATCACGCCATCGCACTTCAGCCTGGGTGACAGAGCGAGACTCCATCTCAAAAAAAAAAAGAAATGTTAAATATCTTCACATAATAGAATGTTTAATGGCTAGTTTATTCACCATTGAGTCCCAGCATCTAGTCCAGTACCTGACATAAAGTAGGTACT | TGCTGCTGTAATTGTGATTATTAAGATTTTTATGATGATTCAGTTTCCCTATTCAGACCTTTCCCTGCTGTTTTCTCTCCATCTCCTCCCCAGGCTCAGACGTGCAGCTTCTGGAATACGAGGCGTCAGCTGCTGGCCTCATCCGATCCTTCTCTGAGCGTTTCCCAGAGGATGGACCCGAGTTGGAGGAGATCCTCACACAGCTGGCCACAGCCGATGCCCGATTCTGGAAGGGCCCCAGTGAGGCCCCATCTGGCCAAGCTTGAGGAAGATGTGTGGCCTTGCCCCCAATTCCATCAGACCAAGGCTGCAAGTGGCCCTCCATTCGTGTGTGTATTTAGGGGCTGGGGAGGGGGAGGGGCAGGAGCTTGGACCTTGGTACTACCTCAGCTGAGGGTGGTGACACAACCCCTTCCATTTGTCAGCACTTTCCAGCCTGCCAATTGCTTCCCCTCTGTGATCTCATTTCATCTGCACTGCCATACGTGGAGTGAGCAAGACAGGGCTTACCATCCTGTCTACCAGATGAGGAAATGGCAGTTCTGAGAAGTCACTGGTCTAGATCCCGCAGGTGGCACGTGACAGCTAGGGTTCAAAACGTTCTCACCAAATCCAATGCTCCTCACATATTAATTTTATAACCAGACAAATAAATATTAGAGACAACCACCATCTTTGCGGCGTGTGTGGCTCCTCCTTGCCTTTGCCTGTCTTCTCATTTACTCCCAGCAGAGTGATGGGCTCAAGGCCTGGGGAGGGGGCAAGGAGGGCCATTTTTAGCCTCCCTTCCACAACAGGATGTTGACATTATCTCTAGATGAGGATACGCAGTCACAGAGCTGAACATAGCACAATTTTTGCAGCTCTCCTTTGTGGCATTCCTTGCATTTTTAAATGTTCTGGGGCCGGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGAGGGGATCACGAGGTCAGGAGTTCGAGACCGGCTTGGCCAATATGGTGAAACCTCGTCTCTACTAAAAAATAAAGTAGCTGGGCATGGTGGCATGCGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCCCTGGAACCCGGGAGGCGGAGGTTGCGGTGAGCCGAAATCGCGCTACTGCGCTCCAGCGCAAGCGACAGAGCGAGACTACGTCTCAAAAAAAAAAAAAAAAAAAAAAAGTTCTGGGAACCTACAAACTCAACTTCAGTCAGAATCCTCTGCATTTGTCCCATAACCCTCGTGTTTTGTTTCTCTGGGCCTGGACCTCTACAGTAACGCAGCAAGGCAGGACATGGTCCTTTTCAACCGGGTAACCATGAAGATGGAGACAGGAGGAGTTCTTTTTGCTGCTCATAAATGCTAGAAGGGGCTTCTTTCCAACCCTGGAAGCCAGAGGGCTCTGTGGCTGACCCAGAGATTGTAGGACCCAGACGCCTGGAAAGGTGGCTCTGACTGGGAAGGAGCAAAGATAAATATCTTTGAGGAATCTGAGACAGATTCCTCAACCCAGGAAGGTGGCCAGCGCGTCCTCCTGAGCCTGGGTGGGAAAGCTTGGCGCCCGGAACCTTTGTACTCGCCCTTCCCTGTGCTCGGGCACTATTGGGCGTTACGCGAGGGCGGGGCCGGTTGCCAGGACGACGCCTGCGAAGATGGCCGCTGCGTCCTCATCGGATTCCGACGCCTGCGGAGCTGAGAGGTGAAGGCAGGGCTCCTCAAGGCCTCTTTTCCCACCCGTGTAAAGAGGGTCCCTTGGTCCCCGGGCTCTGGGCTCCTGCTGTTCTCGGGCAGTCTGGAAGGACTCTTAAGAGGTCAGATAGGGAAACCGAGGCCTAAGATGTGCATATGTGTGTCTGGAGGTCGCTCGGTGAGCCAGTGGCGGAGCCTGGACTTGTACCCAGACGTTCTGTACCTTATGTTCAGAGTGACCTGTACCAGCTTCCTCAAAGTTTTTTTTTCCCCTCCCATGGGACTCACTCCCCAACTGTCTTTCCCCCACTTCCAGCAATGAGGCCAATTCGAAGTGGTTTGGATGCGCACTACGACCCAATGGCCAATATCCACACCTTTTCTGCCTGCCTAGGTGAGTCTCTGGAACCAGGAACCCTGGGTTCTAGTGGGATGGGGAGTCAGACAATGGTCCTGTAGTGAAGCCTCTGGGATTCTGAGACTCTGGTTTTGGCCCTTTTGTTTTCCAGCGCTGGCAGATTTACATGGGGATGGGGAATACAAGGTAAGCATATCACCCTAGCCAGGAGAGTTGAGGGTAGGGGGGTGTACCCAGAAATGAGATTTCCTGACGGCTGAAAATAGGCCCAGCATACTCTGGAATTCACATATACTGTGAAAAAGCACATTTAGCGTTAAATTTTGTTTTTATATGGAAAGTGAAGAGAACTTATTGATTTCATAATACAGACTGCAGAAAGTAAAGCAGATCAAATATTTCTGGGGATTCTACTAAGACAAAGCCTCTTAGTTAACCTGATTTCTTTGTTGGAAGGGCAAATCCCTTGGTTGGGGGTGGGCACTAGAATCTGGAGGGAAAGTAAAAAGGAGGGAAGTGAACGTTTGATGTTTATCAAAAGATTTTAAGATGGGCCATGAGCTGTCAATTTTTGAAGCTGGATAATGGGATATATGGGGACTCATTATATGAGTCTCTCTACTTTTGTATGTGAATGAAAATTTTCCATAGTAAAAATGTTACATTTTAAATTTAATTTTAAGGCCAGCAATCCCAGCACTTTGGGAGGCTGAGGTGGGTGGATCGCTTGAGCTTAGGCATTCGAGACCAGCCTGTCCAACATGGTGAAACACCATCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTGATGGGCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGGTCAAACCCAGGAGGCGGAGGTTGAGTGAGCTGAGACCATGCCACTACACTCCAGCCTGGATGACAGAGTGAGACAGTTTCAAAAAAAAATATATATATATATATGTGTATATATATGTATATATATGTATATATATGTGTATATATATGTATATATATATACATATATTTAATTTTAAATAAAAATGTAAATTTAAAAAGATACAAGTTTTTTAAAGGTAGAGAAATATATTGGGATAAAAGAAAGGAAGTTAGCATGGATTCAGTATCCATTTCTGGACTAGACATTCCATGGAGGCACATAAACATGGATTTTATTTATTCCCATTTTGTGAATGGGAAAATAGTTTCAAAGAGGTGAAGTTTACTGAATTTGTAACTGGGTCTGTTTGATTCCAAGTTTTGTGCTTTTTCTACCAAAGCTCAGCCCTCACCATGGGCAACAACACCACAATGGATATATCATGTGGGTGGCTAGAAGATAGTCCTGGAATCCCACCCCACACAGAGAGTGCAATAGGACTCAGTGGTTTTTGCCCCCAAATTCCTATCCATAATGTATTCAGTAATTCAGCAAGTGTATAGTGAGTCCCTACTGTGTGTCAGGCATCATGGGGACACTACACTCAGAAATGCATCAGCATGTGGTCAGGAGGAGATACACTGTCGACAATTATTCCATGATATTGATTGAATACCTAGTTTGTATTTGGCTCTGGGCTTACAATAGTGAGGGAAGAGAAACCACAGACACAGTAGCTAATAAGAAATGTTAGCCAGGCACAGTGGCTCATGCCTGTAATCCCAGCACTTTAGGAGGAGGCCAAGGCGGGTGGATCACGAGGTCAGGAGTTTGAGACCAGCCTGGACAACATGGTGAAACCCTGTCTGTACTAAAAATACAAAAATCAGCCGGGCGTGGTGGCAGGCGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCTTGAAACCAGAAGGCGGAGGTTGCAGTGAGCCGAAATCACGCCATCGCACTTCAGCCTGGGTGACAGAGCGAGACTCCATCTCAAAAAAAAAAAGAAATGTTAAATATCTTCACATAATAGAATGTTTAATGGCTAGTTTATTCACCATTGAGTCCCAGCATCTAGTCCAGTACCTGACATAAAGTAGGTAC | pathogenic | 178,842 |
Variant on chromosome 11, at position 66511082, affecting BBS1 (Bardet-Biedl syndrome 1): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['BBS1-related_disorder', 'Bardet-Biedl_syndrome', 'Bardet-Biedl_syndrome_1'] | CTATTCAGACCTTTCCCTGCTGTTTTCTCTCCATCTCCTCCCCAGGCTCAGACGTGCAGCTTCTGGAATACGAGGCGTCAGCTGCTGGCCTCATCCGATCCTTCTCTGAGCGTTTCCCAGAGGATGGACCCGAGTTGGAGGAGATCCTCACACAGCTGGCCACAGCCGATGCCCGATTCTGGAAGGGCCCCAGTGAGGCCCCATCTGGCCAAGCTTGAGGAAGATGTGTGGCCTTGCCCCCAATTCCATCAGACCAAGGCTGCAAGTGGCCCTCCATTCGTGTGTGTATTTAGGGGCTGGGGAGGGGGAGGGGCAGGAGCTTGGACCTTGGTACTACCTCAGCTGAGGGTGGTGACACAACCCCTTCCATTTGTCAGCACTTTCCAGCCTGCCAATTGCTTCCCCTCTGTGATCTCATTTCATCTGCACTGCCATACGTGGAGTGAGCAAGACAGGGCTTACCATCCTGTCTACCAGATGAGGAAATGGCAGTTCTGAGAAGTCACTGGTCTAGATCCCGCAGGTGGCACGTGACAGCTAGGGTTCAAAACGTTCTCACCAAATCCAATGCTCCTCACATATTAATTTTATAACCAGACAAATAAATATTAGAGACAACCACCATCTTTGCGGCGTGTGTGGCTCCTCCTTGCCTTTGCCTGTCTTCTCATTTACTCCCAGCAGAGTGATGGGCTCAAGGCCTGGGGAGGGGGCAAGGAGGGCCATTTTTAGCCTCCCTTCCACAACAGGATGTTGACATTATCTCTAGATGAGGATACGCAGTCACAGAGCTGAACATAGCACAATTTTTGCAGCTCTCCTTTGTGGCATTCCTTGCATTTTTAAATGTTCTGGGGCCGGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGAGGGGATCACGAGGTCAGGAGTTCGAGACCGGCTTGGCCAATATGGTGAAACCTCGTCTCTACTAAAAAATAAAGTAGCTGGGCATGGTGGCATGCGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCCCTGGAACCCGGGAGGCGGAGGTTGCGGTGAGCCGAAATCGCGCTACTGCGCTCCAGCGCAAGCGACAGAGCGAGACTACGTCTCAAAAAAAAAAAAAAAAAAAAAAAGTTCTGGGAACCTACAAACTCAACTTCAGTCAGAATCCTCTGCATTTGTCCCATAACCCTCGTGTTTTGTTTCTCTGGGCCTGGACCTCTACAGTAACGCAGCAAGGCAGGACATGGTCCTTTTCAACCGGGTAACCATGAAGATGGAGACAGGAGGAGTTCTTTTTGCTGCTCATAAATGCTAGAAGGGGCTTCTTTCCAACCCTGGAAGCCAGAGGGCTCTGTGGCTGACCCAGAGATTGTAGGACCCAGACGCCTGGAAAGGTGGCTCTGACTGGGAAGGAGCAAAGATAAATATCTTTGAGGAATCTGAGACAGATTCCTCAACCCAGGAAGGTGGCCAGCGCGTCCTCCTGAGCCTGGGTGGGAAAGCTTGGCGCCCGGAACCTTTGTACTCGCCCTTCCCTGTGCTCGGGCACTATTGGGCGTTACGCGAGGGCGGGGCCGGTTGCCAGGACGACGCCTGCGAAGATGGCCGCTGCGTCCTCATCGGATTCCGACGCCTGCGGAGCTGAGAGGTGAAGGCAGGGCTCCTCAAGGCCTCTTTTCCCACCCGTGTAAAGAGGGTCCCTTGGTCCCCGGGCTCTGGGCTCCTGCTGTTCTCGGGCAGTCTGGAAGGACTCTTAAGAGGTCAGATAGGGAAACCGAGGCCTAAGATGTGCATATGTGTGTCTGGAGGTCGCTCGGTGAGCCAGTGGCGGAGCCTGGACTTGTACCCAGACGTTCTGTACCTTATGTTCAGAGTGACCTGTACCAGCTTCCTCAAAGTTTTTTTTTCCCCTCCCATGGGACTCACTCCCCAACTGTCTTTCCCCCACTTCCAGCAATGAGGCCAATTCGAAGTGGTTGGATGCGCACTACGACCCAATGGCCAATATCCACACCTTTTCTGCCTGCCTAGGTGAGTCTCTGGAACCAGGAACCCTGGGTTCTAGTGGGATGGGGAGTCAGACAATGGTCCTGTAGTGAAGCCTCTGGGATTCTGAGACTCTGGTTTTGGCCCTTTTGTTTTCCAGCGCTGGCAGATTTACATGGGGATGGGGAATACAAGGTAAGCATATCACCCTAGCCAGGAGAGTTGAGGGTAGGGGGGTGTACCCAGAAATGAGATTTCCTGACGGCTGAAAATAGGCCCAGCATACTCTGGAATTCACATATACTGTGAAAAAGCACATTTAGCGTTAAATTTTGTTTTTATATGGAAAGTGAAGAGAACTTATTGATTTCATAATACAGACTGCAGAAAGTAAAGCAGATCAAATATTTCTGGGGATTCTACTAAGACAAAGCCTCTTAGTTAACCTGATTTCTTTGTTGGAAGGGCAAATCCCTTGGTTGGGGGTGGGCACTAGAATCTGGAGGGAAAGTAAAAAGGAGGGAAGTGAACGTTTGATGTTTATCAAAAGATTTTAAGATGGGCCATGAGCTGTCAATTTTTGAAGCTGGATAATGGGATATATGGGGACTCATTATATGAGTCTCTCTACTTTTGTATGTGAATGAAAATTTTCCATAGTAAAAATGTTACATTTTAAATTTAATTTTAAGGCCAGCAATCCCAGCACTTTGGGAGGCTGAGGTGGGTGGATCGCTTGAGCTTAGGCATTCGAGACCAGCCTGTCCAACATGGTGAAACACCATCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTGATGGGCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGGTCAAACCCAGGAGGCGGAGGTTGAGTGAGCTGAGACCATGCCACTACACTCCAGCCTGGATGACAGAGTGAGACAGTTTCAAAAAAAAATATATATATATATATGTGTATATATATGTATATATATGTATATATATGTGTATATATATGTATATATATATACATATATTTAATTTTAAATAAAAATGTAAATTTAAAAAGATACAAGTTTTTTAAAGGTAGAGAAATATATTGGGATAAAAGAAAGGAAGTTAGCATGGATTCAGTATCCATTTCTGGACTAGACATTCCATGGAGGCACATAAACATGGATTTTATTTATTCCCATTTTGTGAATGGGAAAATAGTTTCAAAGAGGTGAAGTTTACTGAATTTGTAACTGGGTCTGTTTGATTCCAAGTTTTGTGCTTTTTCTACCAAAGCTCAGCCCTCACCATGGGCAACAACACCACAATGGATATATCATGTGGGTGGCTAGAAGATAGTCCTGGAATCCCACCCCACACAGAGAGTGCAATAGGACTCAGTGGTTTTTGCCCCCAAATTCCTATCCATAATGTATTCAGTAATTCAGCAAGTGTATAGTGAGTCCCTACTGTGTGTCAGGCATCATGGGGACACTACACTCAGAAATGCATCAGCATGTGGTCAGGAGGAGATACACTGTCGACAATTATTCCATGATATTGATTGAATACCTAGTTTGTATTTGGCTCTGGGCTTACAATAGTGAGGGAAGAGAAACCACAGACACAGTAGCTAATAAGAAATGTTAGCCAGGCACAGTGGCTCATGCCTGTAATCCCAGCACTTTAGGAGGAGGCCAAGGCGGGTGGATCACGAGGTCAGGAGTTTGAGACCAGCCTGGACAACATGGTGAAACCCTGTCTGTACTAAAAATACAAAAATCAGCCGGGCGTGGTGGCAGGCGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCTTGAAACCAGAAGGCGGAGGTTGCAGTGAGCCGAAATCACGCCATCGCACTTCAGCCTGGGTGACAGAGCGAGACTCCATCTCAAAAAAAAAAAGAAATGTTAAATATCTTCACATAATAGAATGTTTAATGGCTAGTTTATTCACCATTGAGTCCCAGCATCTAGTCCAGTACCTGACATAAAGTAGGTACTTGATAAATATTTGTGGGGAAGTGAGTAGATGCTAAAATTGAACATGTA | CTATTCAGACCTTTCCCTGCTGTTTTCTCTCCATCTCCTCCCCAGGCTCAGACGTGCAGCTTCTGGAATACGAGGCGTCAGCTGCTGGCCTCATCCGATCCTTCTCTGAGCGTTTCCCAGAGGATGGACCCGAGTTGGAGGAGATCCTCACACAGCTGGCCACAGCCGATGCCCGATTCTGGAAGGGCCCCAGTGAGGCCCCATCTGGCCAAGCTTGAGGAAGATGTGTGGCCTTGCCCCCAATTCCATCAGACCAAGGCTGCAAGTGGCCCTCCATTCGTGTGTGTATTTAGGGGCTGGGGAGGGGGAGGGGCAGGAGCTTGGACCTTGGTACTACCTCAGCTGAGGGTGGTGACACAACCCCTTCCATTTGTCAGCACTTTCCAGCCTGCCAATTGCTTCCCCTCTGTGATCTCATTTCATCTGCACTGCCATACGTGGAGTGAGCAAGACAGGGCTTACCATCCTGTCTACCAGATGAGGAAATGGCAGTTCTGAGAAGTCACTGGTCTAGATCCCGCAGGTGGCACGTGACAGCTAGGGTTCAAAACGTTCTCACCAAATCCAATGCTCCTCACATATTAATTTTATAACCAGACAAATAAATATTAGAGACAACCACCATCTTTGCGGCGTGTGTGGCTCCTCCTTGCCTTTGCCTGTCTTCTCATTTACTCCCAGCAGAGTGATGGGCTCAAGGCCTGGGGAGGGGGCAAGGAGGGCCATTTTTAGCCTCCCTTCCACAACAGGATGTTGACATTATCTCTAGATGAGGATACGCAGTCACAGAGCTGAACATAGCACAATTTTTGCAGCTCTCCTTTGTGGCATTCCTTGCATTTTTAAATGTTCTGGGGCCGGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGAGGGGATCACGAGGTCAGGAGTTCGAGACCGGCTTGGCCAATATGGTGAAACCTCGTCTCTACTAAAAAATAAAGTAGCTGGGCATGGTGGCATGCGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCCCTGGAACCCGGGAGGCGGAGGTTGCGGTGAGCCGAAATCGCGCTACTGCGCTCCAGCGCAAGCGACAGAGCGAGACTACGTCTCAAAAAAAAAAAAAAAAAAAAAAAGTTCTGGGAACCTACAAACTCAACTTCAGTCAGAATCCTCTGCATTTGTCCCATAACCCTCGTGTTTTGTTTCTCTGGGCCTGGACCTCTACAGTAACGCAGCAAGGCAGGACATGGTCCTTTTCAACCGGGTAACCATGAAGATGGAGACAGGAGGAGTTCTTTTTGCTGCTCATAAATGCTAGAAGGGGCTTCTTTCCAACCCTGGAAGCCAGAGGGCTCTGTGGCTGACCCAGAGATTGTAGGACCCAGACGCCTGGAAAGGTGGCTCTGACTGGGAAGGAGCAAAGATAAATATCTTTGAGGAATCTGAGACAGATTCCTCAACCCAGGAAGGTGGCCAGCGCGTCCTCCTGAGCCTGGGTGGGAAAGCTTGGCGCCCGGAACCTTTGTACTCGCCCTTCCCTGTGCTCGGGCACTATTGGGCGTTACGCGAGGGCGGGGCCGGTTGCCAGGACGACGCCTGCGAAGATGGCCGCTGCGTCCTCATCGGATTCCGACGCCTGCGGAGCTGAGAGGTGAAGGCAGGGCTCCTCAAGGCCTCTTTTCCCACCCGTGTAAAGAGGGTCCCTTGGTCCCCGGGCTCTGGGCTCCTGCTGTTCTCGGGCAGTCTGGAAGGACTCTTAAGAGGTCAGATAGGGAAACCGAGGCCTAAGATGTGCATATGTGTGTCTGGAGGTCGCTCGGTGAGCCAGTGGCGGAGCCTGGACTTGTACCCAGACGTTCTGTACCTTATGTTCAGAGTGACCTGTACCAGCTTCCTCAAAGTTTTTTTTTCCCCTCCCATGGGACTCACTCCCCAACTGTCTTTCCCCCACTTCCAGCAATGAGGCCAATTCGAAGTGGTTGGATGCGCACTACGACCCAATGGCCAATATCCACACCTTTTCTGCCGCCTAGGTGAGTCTCTGGAACCAGGAACCCTGGGTTCTAGTGGGATGGGGAGTCAGACAATGGTCCTGTAGTGAAGCCTCTGGGATTCTGAGACTCTGGTTTTGGCCCTTTTGTTTTCCAGCGCTGGCAGATTTACATGGGGATGGGGAATACAAGGTAAGCATATCACCCTAGCCAGGAGAGTTGAGGGTAGGGGGGTGTACCCAGAAATGAGATTTCCTGACGGCTGAAAATAGGCCCAGCATACTCTGGAATTCACATATACTGTGAAAAAGCACATTTAGCGTTAAATTTTGTTTTTATATGGAAAGTGAAGAGAACTTATTGATTTCATAATACAGACTGCAGAAAGTAAAGCAGATCAAATATTTCTGGGGATTCTACTAAGACAAAGCCTCTTAGTTAACCTGATTTCTTTGTTGGAAGGGCAAATCCCTTGGTTGGGGGTGGGCACTAGAATCTGGAGGGAAAGTAAAAAGGAGGGAAGTGAACGTTTGATGTTTATCAAAAGATTTTAAGATGGGCCATGAGCTGTCAATTTTTGAAGCTGGATAATGGGATATATGGGGACTCATTATATGAGTCTCTCTACTTTTGTATGTGAATGAAAATTTTCCATAGTAAAAATGTTACATTTTAAATTTAATTTTAAGGCCAGCAATCCCAGCACTTTGGGAGGCTGAGGTGGGTGGATCGCTTGAGCTTAGGCATTCGAGACCAGCCTGTCCAACATGGTGAAACACCATCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTGATGGGCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGGTCAAACCCAGGAGGCGGAGGTTGAGTGAGCTGAGACCATGCCACTACACTCCAGCCTGGATGACAGAGTGAGACAGTTTCAAAAAAAAATATATATATATATATGTGTATATATATGTATATATATGTATATATATGTGTATATATATGTATATATATATACATATATTTAATTTTAAATAAAAATGTAAATTTAAAAAGATACAAGTTTTTTAAAGGTAGAGAAATATATTGGGATAAAAGAAAGGAAGTTAGCATGGATTCAGTATCCATTTCTGGACTAGACATTCCATGGAGGCACATAAACATGGATTTTATTTATTCCCATTTTGTGAATGGGAAAATAGTTTCAAAGAGGTGAAGTTTACTGAATTTGTAACTGGGTCTGTTTGATTCCAAGTTTTGTGCTTTTTCTACCAAAGCTCAGCCCTCACCATGGGCAACAACACCACAATGGATATATCATGTGGGTGGCTAGAAGATAGTCCTGGAATCCCACCCCACACAGAGAGTGCAATAGGACTCAGTGGTTTTTGCCCCCAAATTCCTATCCATAATGTATTCAGTAATTCAGCAAGTGTATAGTGAGTCCCTACTGTGTGTCAGGCATCATGGGGACACTACACTCAGAAATGCATCAGCATGTGGTCAGGAGGAGATACACTGTCGACAATTATTCCATGATATTGATTGAATACCTAGTTTGTATTTGGCTCTGGGCTTACAATAGTGAGGGAAGAGAAACCACAGACACAGTAGCTAATAAGAAATGTTAGCCAGGCACAGTGGCTCATGCCTGTAATCCCAGCACTTTAGGAGGAGGCCAAGGCGGGTGGATCACGAGGTCAGGAGTTTGAGACCAGCCTGGACAACATGGTGAAACCCTGTCTGTACTAAAAATACAAAAATCAGCCGGGCGTGGTGGCAGGCGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCTTGAAACCAGAAGGCGGAGGTTGCAGTGAGCCGAAATCACGCCATCGCACTTCAGCCTGGGTGACAGAGCGAGACTCCATCTCAAAAAAAAAAAGAAATGTTAAATATCTTCACATAATAGAATGTTTAATGGCTAGTTTATTCACCATTGAGTCCCAGCATCTAGTCCAGTACCTGACATAAAGTAGGTACTTGATAAATATTTGTGGGGAAGTGAGTAGATGCTAAAATTGAACATGTAN | pathogenic | 178,843 |
Evaluate the clinical significance of the mutation at chromosome 11, position 66511236 in gene BBS1 (Bardet-Biedl syndrome 1): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Bardet-Biedl_syndrome', 'Bardet-Biedl_syndrome_1'] | GCTGGCCACAGCCGATGCCCGATTCTGGAAGGGCCCCAGTGAGGCCCCATCTGGCCAAGCTTGAGGAAGATGTGTGGCCTTGCCCCCAATTCCATCAGACCAAGGCTGCAAGTGGCCCTCCATTCGTGTGTGTATTTAGGGGCTGGGGAGGGGGAGGGGCAGGAGCTTGGACCTTGGTACTACCTCAGCTGAGGGTGGTGACACAACCCCTTCCATTTGTCAGCACTTTCCAGCCTGCCAATTGCTTCCCCTCTGTGATCTCATTTCATCTGCACTGCCATACGTGGAGTGAGCAAGACAGGGCTTACCATCCTGTCTACCAGATGAGGAAATGGCAGTTCTGAGAAGTCACTGGTCTAGATCCCGCAGGTGGCACGTGACAGCTAGGGTTCAAAACGTTCTCACCAAATCCAATGCTCCTCACATATTAATTTTATAACCAGACAAATAAATATTAGAGACAACCACCATCTTTGCGGCGTGTGTGGCTCCTCCTTGCCTTTGCCTGTCTTCTCATTTACTCCCAGCAGAGTGATGGGCTCAAGGCCTGGGGAGGGGGCAAGGAGGGCCATTTTTAGCCTCCCTTCCACAACAGGATGTTGACATTATCTCTAGATGAGGATACGCAGTCACAGAGCTGAACATAGCACAATTTTTGCAGCTCTCCTTTGTGGCATTCCTTGCATTTTTAAATGTTCTGGGGCCGGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGAGGGGATCACGAGGTCAGGAGTTCGAGACCGGCTTGGCCAATATGGTGAAACCTCGTCTCTACTAAAAAATAAAGTAGCTGGGCATGGTGGCATGCGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCCCTGGAACCCGGGAGGCGGAGGTTGCGGTGAGCCGAAATCGCGCTACTGCGCTCCAGCGCAAGCGACAGAGCGAGACTACGTCTCAAAAAAAAAAAAAAAAAAAAAAAGTTCTGGGAACCTACAAACTCAACTTCAGTCAGAATCCTCTGCATTTGTCCCATAACCCTCGTGTTTTGTTTCTCTGGGCCTGGACCTCTACAGTAACGCAGCAAGGCAGGACATGGTCCTTTTCAACCGGGTAACCATGAAGATGGAGACAGGAGGAGTTCTTTTTGCTGCTCATAAATGCTAGAAGGGGCTTCTTTCCAACCCTGGAAGCCAGAGGGCTCTGTGGCTGACCCAGAGATTGTAGGACCCAGACGCCTGGAAAGGTGGCTCTGACTGGGAAGGAGCAAAGATAAATATCTTTGAGGAATCTGAGACAGATTCCTCAACCCAGGAAGGTGGCCAGCGCGTCCTCCTGAGCCTGGGTGGGAAAGCTTGGCGCCCGGAACCTTTGTACTCGCCCTTCCCTGTGCTCGGGCACTATTGGGCGTTACGCGAGGGCGGGGCCGGTTGCCAGGACGACGCCTGCGAAGATGGCCGCTGCGTCCTCATCGGATTCCGACGCCTGCGGAGCTGAGAGGTGAAGGCAGGGCTCCTCAAGGCCTCTTTTCCCACCCGTGTAAAGAGGGTCCCTTGGTCCCCGGGCTCTGGGCTCCTGCTGTTCTCGGGCAGTCTGGAAGGACTCTTAAGAGGTCAGATAGGGAAACCGAGGCCTAAGATGTGCATATGTGTGTCTGGAGGTCGCTCGGTGAGCCAGTGGCGGAGCCTGGACTTGTACCCAGACGTTCTGTACCTTATGTTCAGAGTGACCTGTACCAGCTTCCTCAAAGTTTTTTTTTCCCCTCCCATGGGACTCACTCCCCAACTGTCTTTCCCCCACTTCCAGCAATGAGGCCAATTCGAAGTGGTTGGATGCGCACTACGACCCAATGGCCAATATCCACACCTTTTCTGCCTGCCTAGGTGAGTCTCTGGAACCAGGAACCCTGGGTTCTAGTGGGATGGGGAGTCAGACAATGGTCCTGTAGTGAAGCCTCTGGGATTCTGAGACTCTGGTTTTGGCCCTTTTGTTTTCCAGCGCTGGCAGATTTACATGGGGATGGGGAATACAAGGTAAGCATATCACCCTAGCCAGGAGAGTTGAGGGTAGGGGGGTGTACCCAGAAATGAGATTTCCTGACGGCTGAAAATAGGCCCAGCATACTCTGGAATTCACATATACTGTGAAAAAGCACATTTAGCGTTAAATTTTGTTTTTATATGGAAAGTGAAGAGAACTTATTGATTTCATAATACAGACTGCAGAAAGTAAAGCAGATCAAATATTTCTGGGGATTCTACTAAGACAAAGCCTCTTAGTTAACCTGATTTCTTTGTTGGAAGGGCAAATCCCTTGGTTGGGGGTGGGCACTAGAATCTGGAGGGAAAGTAAAAAGGAGGGAAGTGAACGTTTGATGTTTATCAAAAGATTTTAAGATGGGCCATGAGCTGTCAATTTTTGAAGCTGGATAATGGGATATATGGGGACTCATTATATGAGTCTCTCTACTTTTGTATGTGAATGAAAATTTTCCATAGTAAAAATGTTACATTTTAAATTTAATTTTAAGGCCAGCAATCCCAGCACTTTGGGAGGCTGAGGTGGGTGGATCGCTTGAGCTTAGGCATTCGAGACCAGCCTGTCCAACATGGTGAAACACCATCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTGATGGGCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGGTCAAACCCAGGAGGCGGAGGTTGAGTGAGCTGAGACCATGCCACTACACTCCAGCCTGGATGACAGAGTGAGACAGTTTCAAAAAAAAATATATATATATATATGTGTATATATATGTATATATATGTATATATATGTGTATATATATGTATATATATATACATATATTTAATTTTAAATAAAAATGTAAATTTAAAAAGATACAAGTTTTTTAAAGGTAGAGAAATATATTGGGATAAAAGAAAGGAAGTTAGCATGGATTCAGTATCCATTTCTGGACTAGACATTCCATGGAGGCACATAAACATGGATTTTATTTATTCCCATTTTGTGAATGGGAAAATAGTTTCAAAGAGGTGAAGTTTACTGAATTTGTAACTGGGTCTGTTTGATTCCAAGTTTTGTGCTTTTTCTACCAAAGCTCAGCCCTCACCATGGGCAACAACACCACAATGGATATATCATGTGGGTGGCTAGAAGATAGTCCTGGAATCCCACCCCACACAGAGAGTGCAATAGGACTCAGTGGTTTTTGCCCCCAAATTCCTATCCATAATGTATTCAGTAATTCAGCAAGTGTATAGTGAGTCCCTACTGTGTGTCAGGCATCATGGGGACACTACACTCAGAAATGCATCAGCATGTGGTCAGGAGGAGATACACTGTCGACAATTATTCCATGATATTGATTGAATACCTAGTTTGTATTTGGCTCTGGGCTTACAATAGTGAGGGAAGAGAAACCACAGACACAGTAGCTAATAAGAAATGTTAGCCAGGCACAGTGGCTCATGCCTGTAATCCCAGCACTTTAGGAGGAGGCCAAGGCGGGTGGATCACGAGGTCAGGAGTTTGAGACCAGCCTGGACAACATGGTGAAACCCTGTCTGTACTAAAAATACAAAAATCAGCCGGGCGTGGTGGCAGGCGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCTTGAAACCAGAAGGCGGAGGTTGCAGTGAGCCGAAATCACGCCATCGCACTTCAGCCTGGGTGACAGAGCGAGACTCCATCTCAAAAAAAAAAAGAAATGTTAAATATCTTCACATAATAGAATGTTTAATGGCTAGTTTATTCACCATTGAGTCCCAGCATCTAGTCCAGTACCTGACATAAAGTAGGTACTTGATAAATATTTGTGGGGAAGTGAGTAGATGCTAAAATTGAACATGTAGAAAGTATTACGGGAGCGCCAACGAGAACAATGGATTCTGTCTGGAGGCACCAGGAGGTAGTAATGTGTGAACTGGGCATTGAAGGATGAATGAAGTCTATCAAGAAGTCAAGGATGAGAGGATGGGGAAGGCATTTCAGGTAGAAGAAACAGC | GCTGGCCACAGCCGATGCCCGATTCTGGAAGGGCCCCAGTGAGGCCCCATCTGGCCAAGCTTGAGGAAGATGTGTGGCCTTGCCCCCAATTCCATCAGACCAAGGCTGCAAGTGGCCCTCCATTCGTGTGTGTATTTAGGGGCTGGGGAGGGGGAGGGGCAGGAGCTTGGACCTTGGTACTACCTCAGCTGAGGGTGGTGACACAACCCCTTCCATTTGTCAGCACTTTCCAGCCTGCCAATTGCTTCCCCTCTGTGATCTCATTTCATCTGCACTGCCATACGTGGAGTGAGCAAGACAGGGCTTACCATCCTGTCTACCAGATGAGGAAATGGCAGTTCTGAGAAGTCACTGGTCTAGATCCCGCAGGTGGCACGTGACAGCTAGGGTTCAAAACGTTCTCACCAAATCCAATGCTCCTCACATATTAATTTTATAACCAGACAAATAAATATTAGAGACAACCACCATCTTTGCGGCGTGTGTGGCTCCTCCTTGCCTTTGCCTGTCTTCTCATTTACTCCCAGCAGAGTGATGGGCTCAAGGCCTGGGGAGGGGGCAAGGAGGGCCATTTTTAGCCTCCCTTCCACAACAGGATGTTGACATTATCTCTAGATGAGGATACGCAGTCACAGAGCTGAACATAGCACAATTTTTGCAGCTCTCCTTTGTGGCATTCCTTGCATTTTTAAATGTTCTGGGGCCGGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGAGGGGATCACGAGGTCAGGAGTTCGAGACCGGCTTGGCCAATATGGTGAAACCTCGTCTCTACTAAAAAATAAAGTAGCTGGGCATGGTGGCATGCGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCCCTGGAACCCGGGAGGCGGAGGTTGCGGTGAGCCGAAATCGCGCTACTGCGCTCCAGCGCAAGCGACAGAGCGAGACTACGTCTCAAAAAAAAAAAAAAAAAAAAAAAGTTCTGGGAACCTACAAACTCAACTTCAGTCAGAATCCTCTGCATTTGTCCCATAACCCTCGTGTTTTGTTTCTCTGGGCCTGGACCTCTACAGTAACGCAGCAAGGCAGGACATGGTCCTTTTCAACCGGGTAACCATGAAGATGGAGACAGGAGGAGTTCTTTTTGCTGCTCATAAATGCTAGAAGGGGCTTCTTTCCAACCCTGGAAGCCAGAGGGCTCTGTGGCTGACCCAGAGATTGTAGGACCCAGACGCCTGGAAAGGTGGCTCTGACTGGGAAGGAGCAAAGATAAATATCTTTGAGGAATCTGAGACAGATTCCTCAACCCAGGAAGGTGGCCAGCGCGTCCTCCTGAGCCTGGGTGGGAAAGCTTGGCGCCCGGAACCTTTGTACTCGCCCTTCCCTGTGCTCGGGCACTATTGGGCGTTACGCGAGGGCGGGGCCGGTTGCCAGGACGACGCCTGCGAAGATGGCCGCTGCGTCCTCATCGGATTCCGACGCCTGCGGAGCTGAGAGGTGAAGGCAGGGCTCCTCAAGGCCTCTTTTCCCACCCGTGTAAAGAGGGTCCCTTGGTCCCCGGGCTCTGGGCTCCTGCTGTTCTCGGGCAGTCTGGAAGGACTCTTAAGAGGTCAGATAGGGAAACCGAGGCCTAAGATGTGCATATGTGTGTCTGGAGGTCGCTCGGTGAGCCAGTGGCGGAGCCTGGACTTGTACCCAGACGTTCTGTACCTTATGTTCAGAGTGACCTGTACCAGCTTCCTCAAAGTTTTTTTTTCCCCTCCCATGGGACTCACTCCCCAACTGTCTTTCCCCCACTTCCAGCAATGAGGCCAATTCGAAGTGGTTGGATGCGCACTACGACCCAATGGCCAATATCCACACCTTTTCTGCCTGCCTAGGTGAGTCTCTGGAACCAGGAACCCTGGGTTCTAGTGGGATGGGGAGTCAGACAATGGTCCTGTAGTGAAGCCTCTGGGATTCTGAGACTCTGGTTTTGGCCCTTTTGTTTTCCAGCGCTGGCAGATTTACATGGGGATGGGGAATACAAAGGTAAGCATATCACCCTAGCCAGGAGAGTTGAGGGTAGGGGGGTGTACCCAGAAATGAGATTTCCTGACGGCTGAAAATAGGCCCAGCATACTCTGGAATTCACATATACTGTGAAAAAGCACATTTAGCGTTAAATTTTGTTTTTATATGGAAAGTGAAGAGAACTTATTGATTTCATAATACAGACTGCAGAAAGTAAAGCAGATCAAATATTTCTGGGGATTCTACTAAGACAAAGCCTCTTAGTTAACCTGATTTCTTTGTTGGAAGGGCAAATCCCTTGGTTGGGGGTGGGCACTAGAATCTGGAGGGAAAGTAAAAAGGAGGGAAGTGAACGTTTGATGTTTATCAAAAGATTTTAAGATGGGCCATGAGCTGTCAATTTTTGAAGCTGGATAATGGGATATATGGGGACTCATTATATGAGTCTCTCTACTTTTGTATGTGAATGAAAATTTTCCATAGTAAAAATGTTACATTTTAAATTTAATTTTAAGGCCAGCAATCCCAGCACTTTGGGAGGCTGAGGTGGGTGGATCGCTTGAGCTTAGGCATTCGAGACCAGCCTGTCCAACATGGTGAAACACCATCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTGATGGGCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGGTCAAACCCAGGAGGCGGAGGTTGAGTGAGCTGAGACCATGCCACTACACTCCAGCCTGGATGACAGAGTGAGACAGTTTCAAAAAAAAATATATATATATATATGTGTATATATATGTATATATATGTATATATATGTGTATATATATGTATATATATATACATATATTTAATTTTAAATAAAAATGTAAATTTAAAAAGATACAAGTTTTTTAAAGGTAGAGAAATATATTGGGATAAAAGAAAGGAAGTTAGCATGGATTCAGTATCCATTTCTGGACTAGACATTCCATGGAGGCACATAAACATGGATTTTATTTATTCCCATTTTGTGAATGGGAAAATAGTTTCAAAGAGGTGAAGTTTACTGAATTTGTAACTGGGTCTGTTTGATTCCAAGTTTTGTGCTTTTTCTACCAAAGCTCAGCCCTCACCATGGGCAACAACACCACAATGGATATATCATGTGGGTGGCTAGAAGATAGTCCTGGAATCCCACCCCACACAGAGAGTGCAATAGGACTCAGTGGTTTTTGCCCCCAAATTCCTATCCATAATGTATTCAGTAATTCAGCAAGTGTATAGTGAGTCCCTACTGTGTGTCAGGCATCATGGGGACACTACACTCAGAAATGCATCAGCATGTGGTCAGGAGGAGATACACTGTCGACAATTATTCCATGATATTGATTGAATACCTAGTTTGTATTTGGCTCTGGGCTTACAATAGTGAGGGAAGAGAAACCACAGACACAGTAGCTAATAAGAAATGTTAGCCAGGCACAGTGGCTCATGCCTGTAATCCCAGCACTTTAGGAGGAGGCCAAGGCGGGTGGATCACGAGGTCAGGAGTTTGAGACCAGCCTGGACAACATGGTGAAACCCTGTCTGTACTAAAAATACAAAAATCAGCCGGGCGTGGTGGCAGGCGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCTTGAAACCAGAAGGCGGAGGTTGCAGTGAGCCGAAATCACGCCATCGCACTTCAGCCTGGGTGACAGAGCGAGACTCCATCTCAAAAAAAAAAAGAAATGTTAAATATCTTCACATAATAGAATGTTTAATGGCTAGTTTATTCACCATTGAGTCCCAGCATCTAGTCCAGTACCTGACATAAAGTAGGTACTTGATAAATATTTGTGGGGAAGTGAGTAGATGCTAAAATTGAACATGTAGAAAGTATTACGGGAGCGCCAACGAGAACAATGGATTCTGTCTGGAGGCACCAGGAGGTAGTAATGTGTGAACTGGGCATTGAAGGATGAATGAAGTCTATCAAGAAGTCAAGGATGAGAGGATGGGGAAGGCATTTCAGGTAGAAGAAACAG | pathogenic | 178,846 |
A genetic variant on chromosome 11, position 66511240, affects the gene BBS1 (Bardet-Biedl syndrome 1). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['BBS1-related_disorder', 'Bardet-Biedl_syndrome', 'Bardet-Biedl_syndrome_1'] | GCCACAGCCGATGCCCGATTCTGGAAGGGCCCCAGTGAGGCCCCATCTGGCCAAGCTTGAGGAAGATGTGTGGCCTTGCCCCCAATTCCATCAGACCAAGGCTGCAAGTGGCCCTCCATTCGTGTGTGTATTTAGGGGCTGGGGAGGGGGAGGGGCAGGAGCTTGGACCTTGGTACTACCTCAGCTGAGGGTGGTGACACAACCCCTTCCATTTGTCAGCACTTTCCAGCCTGCCAATTGCTTCCCCTCTGTGATCTCATTTCATCTGCACTGCCATACGTGGAGTGAGCAAGACAGGGCTTACCATCCTGTCTACCAGATGAGGAAATGGCAGTTCTGAGAAGTCACTGGTCTAGATCCCGCAGGTGGCACGTGACAGCTAGGGTTCAAAACGTTCTCACCAAATCCAATGCTCCTCACATATTAATTTTATAACCAGACAAATAAATATTAGAGACAACCACCATCTTTGCGGCGTGTGTGGCTCCTCCTTGCCTTTGCCTGTCTTCTCATTTACTCCCAGCAGAGTGATGGGCTCAAGGCCTGGGGAGGGGGCAAGGAGGGCCATTTTTAGCCTCCCTTCCACAACAGGATGTTGACATTATCTCTAGATGAGGATACGCAGTCACAGAGCTGAACATAGCACAATTTTTGCAGCTCTCCTTTGTGGCATTCCTTGCATTTTTAAATGTTCTGGGGCCGGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGAGGGGATCACGAGGTCAGGAGTTCGAGACCGGCTTGGCCAATATGGTGAAACCTCGTCTCTACTAAAAAATAAAGTAGCTGGGCATGGTGGCATGCGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCCCTGGAACCCGGGAGGCGGAGGTTGCGGTGAGCCGAAATCGCGCTACTGCGCTCCAGCGCAAGCGACAGAGCGAGACTACGTCTCAAAAAAAAAAAAAAAAAAAAAAAGTTCTGGGAACCTACAAACTCAACTTCAGTCAGAATCCTCTGCATTTGTCCCATAACCCTCGTGTTTTGTTTCTCTGGGCCTGGACCTCTACAGTAACGCAGCAAGGCAGGACATGGTCCTTTTCAACCGGGTAACCATGAAGATGGAGACAGGAGGAGTTCTTTTTGCTGCTCATAAATGCTAGAAGGGGCTTCTTTCCAACCCTGGAAGCCAGAGGGCTCTGTGGCTGACCCAGAGATTGTAGGACCCAGACGCCTGGAAAGGTGGCTCTGACTGGGAAGGAGCAAAGATAAATATCTTTGAGGAATCTGAGACAGATTCCTCAACCCAGGAAGGTGGCCAGCGCGTCCTCCTGAGCCTGGGTGGGAAAGCTTGGCGCCCGGAACCTTTGTACTCGCCCTTCCCTGTGCTCGGGCACTATTGGGCGTTACGCGAGGGCGGGGCCGGTTGCCAGGACGACGCCTGCGAAGATGGCCGCTGCGTCCTCATCGGATTCCGACGCCTGCGGAGCTGAGAGGTGAAGGCAGGGCTCCTCAAGGCCTCTTTTCCCACCCGTGTAAAGAGGGTCCCTTGGTCCCCGGGCTCTGGGCTCCTGCTGTTCTCGGGCAGTCTGGAAGGACTCTTAAGAGGTCAGATAGGGAAACCGAGGCCTAAGATGTGCATATGTGTGTCTGGAGGTCGCTCGGTGAGCCAGTGGCGGAGCCTGGACTTGTACCCAGACGTTCTGTACCTTATGTTCAGAGTGACCTGTACCAGCTTCCTCAAAGTTTTTTTTTCCCCTCCCATGGGACTCACTCCCCAACTGTCTTTCCCCCACTTCCAGCAATGAGGCCAATTCGAAGTGGTTGGATGCGCACTACGACCCAATGGCCAATATCCACACCTTTTCTGCCTGCCTAGGTGAGTCTCTGGAACCAGGAACCCTGGGTTCTAGTGGGATGGGGAGTCAGACAATGGTCCTGTAGTGAAGCCTCTGGGATTCTGAGACTCTGGTTTTGGCCCTTTTGTTTTCCAGCGCTGGCAGATTTACATGGGGATGGGGAATACAAGGTAAGCATATCACCCTAGCCAGGAGAGTTGAGGGTAGGGGGGTGTACCCAGAAATGAGATTTCCTGACGGCTGAAAATAGGCCCAGCATACTCTGGAATTCACATATACTGTGAAAAAGCACATTTAGCGTTAAATTTTGTTTTTATATGGAAAGTGAAGAGAACTTATTGATTTCATAATACAGACTGCAGAAAGTAAAGCAGATCAAATATTTCTGGGGATTCTACTAAGACAAAGCCTCTTAGTTAACCTGATTTCTTTGTTGGAAGGGCAAATCCCTTGGTTGGGGGTGGGCACTAGAATCTGGAGGGAAAGTAAAAAGGAGGGAAGTGAACGTTTGATGTTTATCAAAAGATTTTAAGATGGGCCATGAGCTGTCAATTTTTGAAGCTGGATAATGGGATATATGGGGACTCATTATATGAGTCTCTCTACTTTTGTATGTGAATGAAAATTTTCCATAGTAAAAATGTTACATTTTAAATTTAATTTTAAGGCCAGCAATCCCAGCACTTTGGGAGGCTGAGGTGGGTGGATCGCTTGAGCTTAGGCATTCGAGACCAGCCTGTCCAACATGGTGAAACACCATCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTGATGGGCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGGTCAAACCCAGGAGGCGGAGGTTGAGTGAGCTGAGACCATGCCACTACACTCCAGCCTGGATGACAGAGTGAGACAGTTTCAAAAAAAAATATATATATATATATGTGTATATATATGTATATATATGTATATATATGTGTATATATATGTATATATATATACATATATTTAATTTTAAATAAAAATGTAAATTTAAAAAGATACAAGTTTTTTAAAGGTAGAGAAATATATTGGGATAAAAGAAAGGAAGTTAGCATGGATTCAGTATCCATTTCTGGACTAGACATTCCATGGAGGCACATAAACATGGATTTTATTTATTCCCATTTTGTGAATGGGAAAATAGTTTCAAAGAGGTGAAGTTTACTGAATTTGTAACTGGGTCTGTTTGATTCCAAGTTTTGTGCTTTTTCTACCAAAGCTCAGCCCTCACCATGGGCAACAACACCACAATGGATATATCATGTGGGTGGCTAGAAGATAGTCCTGGAATCCCACCCCACACAGAGAGTGCAATAGGACTCAGTGGTTTTTGCCCCCAAATTCCTATCCATAATGTATTCAGTAATTCAGCAAGTGTATAGTGAGTCCCTACTGTGTGTCAGGCATCATGGGGACACTACACTCAGAAATGCATCAGCATGTGGTCAGGAGGAGATACACTGTCGACAATTATTCCATGATATTGATTGAATACCTAGTTTGTATTTGGCTCTGGGCTTACAATAGTGAGGGAAGAGAAACCACAGACACAGTAGCTAATAAGAAATGTTAGCCAGGCACAGTGGCTCATGCCTGTAATCCCAGCACTTTAGGAGGAGGCCAAGGCGGGTGGATCACGAGGTCAGGAGTTTGAGACCAGCCTGGACAACATGGTGAAACCCTGTCTGTACTAAAAATACAAAAATCAGCCGGGCGTGGTGGCAGGCGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCTTGAAACCAGAAGGCGGAGGTTGCAGTGAGCCGAAATCACGCCATCGCACTTCAGCCTGGGTGACAGAGCGAGACTCCATCTCAAAAAAAAAAAGAAATGTTAAATATCTTCACATAATAGAATGTTTAATGGCTAGTTTATTCACCATTGAGTCCCAGCATCTAGTCCAGTACCTGACATAAAGTAGGTACTTGATAAATATTTGTGGGGAAGTGAGTAGATGCTAAAATTGAACATGTAGAAAGTATTACGGGAGCGCCAACGAGAACAATGGATTCTGTCTGGAGGCACCAGGAGGTAGTAATGTGTGAACTGGGCATTGAAGGATGAATGAAGTCTATCAAGAAGTCAAGGATGAGAGGATGGGGAAGGCATTTCAGGTAGAAGAAACAGCACAA | GCCACAGCCGATGCCCGATTCTGGAAGGGCCCCAGTGAGGCCCCATCTGGCCAAGCTTGAGGAAGATGTGTGGCCTTGCCCCCAATTCCATCAGACCAAGGCTGCAAGTGGCCCTCCATTCGTGTGTGTATTTAGGGGCTGGGGAGGGGGAGGGGCAGGAGCTTGGACCTTGGTACTACCTCAGCTGAGGGTGGTGACACAACCCCTTCCATTTGTCAGCACTTTCCAGCCTGCCAATTGCTTCCCCTCTGTGATCTCATTTCATCTGCACTGCCATACGTGGAGTGAGCAAGACAGGGCTTACCATCCTGTCTACCAGATGAGGAAATGGCAGTTCTGAGAAGTCACTGGTCTAGATCCCGCAGGTGGCACGTGACAGCTAGGGTTCAAAACGTTCTCACCAAATCCAATGCTCCTCACATATTAATTTTATAACCAGACAAATAAATATTAGAGACAACCACCATCTTTGCGGCGTGTGTGGCTCCTCCTTGCCTTTGCCTGTCTTCTCATTTACTCCCAGCAGAGTGATGGGCTCAAGGCCTGGGGAGGGGGCAAGGAGGGCCATTTTTAGCCTCCCTTCCACAACAGGATGTTGACATTATCTCTAGATGAGGATACGCAGTCACAGAGCTGAACATAGCACAATTTTTGCAGCTCTCCTTTGTGGCATTCCTTGCATTTTTAAATGTTCTGGGGCCGGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGAGGGGATCACGAGGTCAGGAGTTCGAGACCGGCTTGGCCAATATGGTGAAACCTCGTCTCTACTAAAAAATAAAGTAGCTGGGCATGGTGGCATGCGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCCCTGGAACCCGGGAGGCGGAGGTTGCGGTGAGCCGAAATCGCGCTACTGCGCTCCAGCGCAAGCGACAGAGCGAGACTACGTCTCAAAAAAAAAAAAAAAAAAAAAAAGTTCTGGGAACCTACAAACTCAACTTCAGTCAGAATCCTCTGCATTTGTCCCATAACCCTCGTGTTTTGTTTCTCTGGGCCTGGACCTCTACAGTAACGCAGCAAGGCAGGACATGGTCCTTTTCAACCGGGTAACCATGAAGATGGAGACAGGAGGAGTTCTTTTTGCTGCTCATAAATGCTAGAAGGGGCTTCTTTCCAACCCTGGAAGCCAGAGGGCTCTGTGGCTGACCCAGAGATTGTAGGACCCAGACGCCTGGAAAGGTGGCTCTGACTGGGAAGGAGCAAAGATAAATATCTTTGAGGAATCTGAGACAGATTCCTCAACCCAGGAAGGTGGCCAGCGCGTCCTCCTGAGCCTGGGTGGGAAAGCTTGGCGCCCGGAACCTTTGTACTCGCCCTTCCCTGTGCTCGGGCACTATTGGGCGTTACGCGAGGGCGGGGCCGGTTGCCAGGACGACGCCTGCGAAGATGGCCGCTGCGTCCTCATCGGATTCCGACGCCTGCGGAGCTGAGAGGTGAAGGCAGGGCTCCTCAAGGCCTCTTTTCCCACCCGTGTAAAGAGGGTCCCTTGGTCCCCGGGCTCTGGGCTCCTGCTGTTCTCGGGCAGTCTGGAAGGACTCTTAAGAGGTCAGATAGGGAAACCGAGGCCTAAGATGTGCATATGTGTGTCTGGAGGTCGCTCGGTGAGCCAGTGGCGGAGCCTGGACTTGTACCCAGACGTTCTGTACCTTATGTTCAGAGTGACCTGTACCAGCTTCCTCAAAGTTTTTTTTTCCCCTCCCATGGGACTCACTCCCCAACTGTCTTTCCCCCACTTCCAGCAATGAGGCCAATTCGAAGTGGTTGGATGCGCACTACGACCCAATGGCCAATATCCACACCTTTTCTGCCTGCCTAGGTGAGTCTCTGGAACCAGGAACCCTGGGTTCTAGTGGGATGGGGAGTCAGACAATGGTCCTGTAGTGAAGCCTCTGGGATTCTGAGACTCTGGTTTTGGCCCTTTTGTTTTCCAGCGCTGGCAGATTTACATGGGGATGGGGAATACAAGGAAGCATATCACCCTAGCCAGGAGAGTTGAGGGTAGGGGGGTGTACCCAGAAATGAGATTTCCTGACGGCTGAAAATAGGCCCAGCATACTCTGGAATTCACATATACTGTGAAAAAGCACATTTAGCGTTAAATTTTGTTTTTATATGGAAAGTGAAGAGAACTTATTGATTTCATAATACAGACTGCAGAAAGTAAAGCAGATCAAATATTTCTGGGGATTCTACTAAGACAAAGCCTCTTAGTTAACCTGATTTCTTTGTTGGAAGGGCAAATCCCTTGGTTGGGGGTGGGCACTAGAATCTGGAGGGAAAGTAAAAAGGAGGGAAGTGAACGTTTGATGTTTATCAAAAGATTTTAAGATGGGCCATGAGCTGTCAATTTTTGAAGCTGGATAATGGGATATATGGGGACTCATTATATGAGTCTCTCTACTTTTGTATGTGAATGAAAATTTTCCATAGTAAAAATGTTACATTTTAAATTTAATTTTAAGGCCAGCAATCCCAGCACTTTGGGAGGCTGAGGTGGGTGGATCGCTTGAGCTTAGGCATTCGAGACCAGCCTGTCCAACATGGTGAAACACCATCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTGATGGGCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGGTCAAACCCAGGAGGCGGAGGTTGAGTGAGCTGAGACCATGCCACTACACTCCAGCCTGGATGACAGAGTGAGACAGTTTCAAAAAAAAATATATATATATATATGTGTATATATATGTATATATATGTATATATATGTGTATATATATGTATATATATATACATATATTTAATTTTAAATAAAAATGTAAATTTAAAAAGATACAAGTTTTTTAAAGGTAGAGAAATATATTGGGATAAAAGAAAGGAAGTTAGCATGGATTCAGTATCCATTTCTGGACTAGACATTCCATGGAGGCACATAAACATGGATTTTATTTATTCCCATTTTGTGAATGGGAAAATAGTTTCAAAGAGGTGAAGTTTACTGAATTTGTAACTGGGTCTGTTTGATTCCAAGTTTTGTGCTTTTTCTACCAAAGCTCAGCCCTCACCATGGGCAACAACACCACAATGGATATATCATGTGGGTGGCTAGAAGATAGTCCTGGAATCCCACCCCACACAGAGAGTGCAATAGGACTCAGTGGTTTTTGCCCCCAAATTCCTATCCATAATGTATTCAGTAATTCAGCAAGTGTATAGTGAGTCCCTACTGTGTGTCAGGCATCATGGGGACACTACACTCAGAAATGCATCAGCATGTGGTCAGGAGGAGATACACTGTCGACAATTATTCCATGATATTGATTGAATACCTAGTTTGTATTTGGCTCTGGGCTTACAATAGTGAGGGAAGAGAAACCACAGACACAGTAGCTAATAAGAAATGTTAGCCAGGCACAGTGGCTCATGCCTGTAATCCCAGCACTTTAGGAGGAGGCCAAGGCGGGTGGATCACGAGGTCAGGAGTTTGAGACCAGCCTGGACAACATGGTGAAACCCTGTCTGTACTAAAAATACAAAAATCAGCCGGGCGTGGTGGCAGGCGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCTTGAAACCAGAAGGCGGAGGTTGCAGTGAGCCGAAATCACGCCATCGCACTTCAGCCTGGGTGACAGAGCGAGACTCCATCTCAAAAAAAAAAAGAAATGTTAAATATCTTCACATAATAGAATGTTTAATGGCTAGTTTATTCACCATTGAGTCCCAGCATCTAGTCCAGTACCTGACATAAAGTAGGTACTTGATAAATATTTGTGGGGAAGTGAGTAGATGCTAAAATTGAACATGTAGAAAGTATTACGGGAGCGCCAACGAGAACAATGGATTCTGTCTGGAGGCACCAGGAGGTAGTAATGTGTGAACTGGGCATTGAAGGATGAATGAAGTCTATCAAGAAGTCAAGGATGAGAGGATGGGGAAGGCATTTCAGGTAGAAGAAACAGCACAAN | pathogenic | 178,847 |
Classify the chromosome 11 variant at position 66514425 affecting gene BBS1 (Bardet-Biedl syndrome 1) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Bardet-Biedl_syndrome_1'] | TCATGTGGGTGGCTAGAAGATAGTCCTGGAATCCCACCCCACACAGAGAGTGCAATAGGACTCAGTGGTTTTTGCCCCCAAATTCCTATCCATAATGTATTCAGTAATTCAGCAAGTGTATAGTGAGTCCCTACTGTGTGTCAGGCATCATGGGGACACTACACTCAGAAATGCATCAGCATGTGGTCAGGAGGAGATACACTGTCGACAATTATTCCATGATATTGATTGAATACCTAGTTTGTATTTGGCTCTGGGCTTACAATAGTGAGGGAAGAGAAACCACAGACACAGTAGCTAATAAGAAATGTTAGCCAGGCACAGTGGCTCATGCCTGTAATCCCAGCACTTTAGGAGGAGGCCAAGGCGGGTGGATCACGAGGTCAGGAGTTTGAGACCAGCCTGGACAACATGGTGAAACCCTGTCTGTACTAAAAATACAAAAATCAGCCGGGCGTGGTGGCAGGCGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCTTGAAACCAGAAGGCGGAGGTTGCAGTGAGCCGAAATCACGCCATCGCACTTCAGCCTGGGTGACAGAGCGAGACTCCATCTCAAAAAAAAAAAGAAATGTTAAATATCTTCACATAATAGAATGTTTAATGGCTAGTTTATTCACCATTGAGTCCCAGCATCTAGTCCAGTACCTGACATAAAGTAGGTACTTGATAAATATTTGTGGGGAAGTGAGTAGATGCTAAAATTGAACATGTAGAAAGTATTACGGGAGCGCCAACGAGAACAATGGATTCTGTCTGGAGGCACCAGGAGGTAGTAATGTGTGAACTGGGCATTGAAGGATGAATGAAGTCTATCAAGAAGTCAAGGATGAGAGGATGGGGAAGGCATTTCAGGTAGAAGAAACAGCACAAGCAGAAGGACAGAGACTTAGAAGTTCATAGCATATTTGGAAAGAATAAATGTGAAGTTAGAAAGTTGAGACCCATATAAAATAACTACCACATAAAATAGTAGTTAAGACTATGGCTTTGGATTCAGACAGAACTAGCTCTACCACTTAATAGCTGTATGACTTTTACTTAACTTCTCTAAGACACAGCTTCCTCATTTGAGAAATGAGGCTAATAATGGTGCCTACTTCATAAGGTTGTTGAAAGCCAGGTGTAGTGGCACACACCTGTAGTCCTAGCTGCTTGGGAGGCTAAGGTGGGAAGACTGCTTAAGCCCAGGAGTTTGAGGCTGCAGCGAGCCATGATCGCACCACTGCACTCCAGCCTAGGTGACAGAGCAAGACCCAGTCGCTTAAAAATAATAAGACTGTTGAGAGGGTTAAATGAAACGATGCATGCAGTTTCTGATGTGGTCCCTGGCATATACTGCATGCTCAGTATCCAGGAGTTCTTGGGTACCCCCTTTCTGGCCGGAGCACAGCAATGGGAAGGGTGATAGGAAACAAGTTGGGAACTAGATCAGAGAGGCCTTCCAGGCCTCATTCAGGGAAATGGGCTTGTGTGGCAGCTCCAGCAGCTTGGAAGATGGATTAGAGGGTGGAAAGCTGAGATCAAGGAGCTTGTTTCCCCTCTGTGTGTCCACAGAGCACATCCTGCCCTGCATTTGGAAACCAGGCTTCAGCAGCCCAGATATGGGTGTCCCCGTCCCCTCCCACACTGACCTCTACCACTGTCCCAGTATCTCTCTAGAAGTGCCTGGTGTGGAAGAAATGTTTGCTGAATGAATAATAAAAACATCAACTGCCACTTATTCCTCAGTAGCACTTACCAGGTTCTGTAACTCATTATCTCACTTGATTTTCACCACATACCATGAAAGTATCACCATTCTGCAAGCGGGAAACCTGAGATTCAGAAAGGTTAGTCAACTTTCCCAAGGTCAGGCAGCTTGAAAGCCTGAGGGCAAAGCCTTTATTGGTGCAGGAATGAATGAATGTGCACCAGCAATAAGGCAAGAAGAGGGTCAGTGGAGAGGTCTTCAGACCCTGAGCCTAGAATGAGCCATCCTCTCCCTGCAGCTGGTGGTAGGGGACCTTGGCCCTGGTGGGCAGCAGCCCCGCCTGAAGGTGCTCAAAGGACCACTGGTGATGACCGAAAGCCCGCTACCTGCTCTGCCAGCTGCTGCTGCCACCTTCCTCATGGAGCAACATGAGCCCCGGACCCCAGCTCTGGCACTTGCTTCAGGCCCTTGTGTCTATGTGTATAAGAATCTCAGACCCTACTTCAAGTTCAGCCTGCCCCAATTGCCTCCAAATCCTCTGGAACAAGACCTTTGGAACCAGGCCAAAGAGGTAAATAAATAACATGGGAGTTGGGAACCAGAAGGCAAAGATGGCAGCCACTGGGTGAAGAGGGCTGGGCTCCTGGGAAGAACGTGGGCTGGTGGCAGGAGGTCAGCTATAGTCCATCTCTGACAGCAGCAGTGATGGCACTTTTTTTTTTTTTGAGACGGAGTTTCACTCTTGTTGCCCAGACTGGAGTGCAATGACGTGATCTTGGTTCACTGCAGCCTCTGGCTCCCGGGTTAAAGCAATTCTTCTGTCTCATCCTCCTGAGTAGCTGGGATTGCAGGCACCAGCAACCACGCCTGGCGAATTTTTTGTATGTGTTAGTAGAGACAAGGTTTTACTATGTTGGCCAGGCTGGTCTTGAACTCCTGGCCTCATATGATCTACCCACCTCGGCCTCCCAAAGTGTTGGGATTACAGGCATGAACCACCGTGCCCAGCCTAGTGATGGCACTTCTGGACAAGGTGTTGTGCTTGGCTACTCAGCATGGCTCCCAGAGAGGCACTGAGCCAGTTCTCTTGGAGAGTGGAACCCAGAAAATTTCTCTGCACTAGCCACATCCCTGCCCAAATTTGAGGAAGATGAAACCAAAGAAGGTAGGGGCCTGTCAGAGAAGAAGGAGGACTGGAAACACCAAGAGAGGAGGGGAATTTGGGGAGGCATGGATTTGGGGAGGGATGATGTACATGGCCATGAGACTGGATTCAGATAAAGGACGTGAGCTTGGTGCTCAGTGCAGAGGTAGGCTGGCAGGGAGGCAGAGACCAAGAGGTACCCCTAGAAGTGTGGAGCTGTCTGGGGGTGTAGACATTGGGTTTCCTGCCTGGCTTGAGCTCACAGGCTCTCTTCCCACATTGTCACAGGACCGAATCGACCCCTTAACCCTGAAGGAGATGCTGGAGAGCATCCGGTGAGAGGCTGCCTTCCCCTTCATACCCCCCTCACTCCTTCATCCCATCTGAGCCCCAGGGCCCCATTCTTCCATTCGGCTGCCATGCTGGCCCCTTTCCTTGCAGGGAGACGGCAGAGGAGCCTTTGTCCATCCAGTCACTCAGGTAAGGACCCTGTGGAGGGCCAGGGTTTGGGAGGCTCCAGGGAGAGGAAGCAGCCGCCAGAATGTGCCAGAATGATGGAGGAGGGCAGCGAGGCCGGGGCCTGCAGATGCCAGTTCTCTGTGTGTCTAGGTTTCTGCAGCTGGAGCTAAGTGAAATGGAGGCATTTGTAAACCAACACAAGTCCAACTCCATCAAGCGGCAGGTAATACCCCCTTCTCTTTTTATTTCCCTGTAAAAAAATTTACATTTTTTTAAAAGACCACTTAACATCAGTGGTAAATTCTATAAGCAAACCCAACCAGTATCTCTTTGCTATATCCCTTCCAGCCATGCCATGTGTGTGTAGTCATAAAGCTGCAGTGACTTCCACATTCCAGTTAGTAGTGACAGCTTTTTTTTTTTTTTTTTTTTTTTGAGACAGTCTTGCTCTGTCACCCAGGCTGGAGTACAGTGGCACAATCTCAGCTCACTACAACCTCTGTTTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTATAGGCATGCACCAACACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGTCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCGCCTACCTTGACCTCCCAAAGTGCTCAGATTACAGGTGTGAGCCATCGTGCCATGCCAACCACTCACATTTTTGAGTTATCATTAACATTTGGGATGGGAATAG | TCATGTGGGTGGCTAGAAGATAGTCCTGGAATCCCACCCCACACAGAGAGTGCAATAGGACTCAGTGGTTTTTGCCCCCAAATTCCTATCCATAATGTATTCAGTAATTCAGCAAGTGTATAGTGAGTCCCTACTGTGTGTCAGGCATCATGGGGACACTACACTCAGAAATGCATCAGCATGTGGTCAGGAGGAGATACACTGTCGACAATTATTCCATGATATTGATTGAATACCTAGTTTGTATTTGGCTCTGGGCTTACAATAGTGAGGGAAGAGAAACCACAGACACAGTAGCTAATAAGAAATGTTAGCCAGGCACAGTGGCTCATGCCTGTAATCCCAGCACTTTAGGAGGAGGCCAAGGCGGGTGGATCACGAGGTCAGGAGTTTGAGACCAGCCTGGACAACATGGTGAAACCCTGTCTGTACTAAAAATACAAAAATCAGCCGGGCGTGGTGGCAGGCGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCTTGAAACCAGAAGGCGGAGGTTGCAGTGAGCCGAAATCACGCCATCGCACTTCAGCCTGGGTGACAGAGCGAGACTCCATCTCAAAAAAAAAAAGAAATGTTAAATATCTTCACATAATAGAATGTTTAATGGCTAGTTTATTCACCATTGAGTCCCAGCATCTAGTCCAGTACCTGACATAAAGTAGGTACTTGATAAATATTTGTGGGGAAGTGAGTAGATGCTAAAATTGAACATGTAGAAAGTATTACGGGAGCGCCAACGAGAACAATGGATTCTGTCTGGAGGCACCAGGAGGTAGTAATGTGTGAACTGGGCATTGAAGGATGAATGAAGTCTATCAAGAAGTCAAGGATGAGAGGATGGGGAAGGCATTTCAGGTAGAAGAAACAGCACAAGCAGAAGGACAGAGACTTAGAAGTTCATAGCATATTTGGAAAGAATAAATGTGAAGTTAGAAAGTTGAGACCCATATAAAATAACTACCACATAAAATAGTAGTTAAGACTATGGCTTTGGATTCAGACAGAACTAGCTCTACCACTTAATAGCTGTATGACTTTTACTTAACTTCTCTAAGACACAGCTTCCTCATTTGAGAAATGAGGCTAATAATGGTGCCTACTTCATAAGGTTGTTGAAAGCCAGGTGTAGTGGCACACACCTGTAGTCCTAGCTGCTTGGGAGGCTAAGGTGGGAAGACTGCTTAAGCCCAGGAGTTTGAGGCTGCAGCGAGCCATGATCGCACCACTGCACTCCAGCCTAGGTGACAGAGCAAGACCCAGTCGCTTAAAAATAATAAGACTGTTGAGAGGGTTAAATGAAACGATGCATGCAGTTTCTGATGTGGTCCCTGGCATATACTGCATGCTCAGTATCCAGGAGTTCTTGGGTACCCCCTTTCTGGCCGGAGCACAGCAATGGGAAGGGTGATAGGAAACAAGTTGGGAACTAGATCAGAGAGGCCTTCCAGGCCTCATTCAGGGAAATGGGCTTGTGTGGCAGCTCCAGCAGCTTGGAAGATGGATTAGAGGGTGGAAAGCTGAGATCAAGGAGCTTGTTTCCCCTCTGTGTGTCCACAGAGCACATCCTGCCCTGCATTTGGAAACCAGGCTTCAGCAGCCCAGATATGGGTGTCCCCGTCCCCTCCCACACTGACCTCTACCACTGTCCCAGTATCTCTCTAGAAGTGCCTGGTGTGGAAGAAATGTTTGCTGAATGAATAATAAAAACATCAACTGCCACTTATTCCTCAGTAGCACTTACCAGGTTCTGTAACTCATTATCTCACTTGATTTTCACCACATACCATGAAAGTATCACCATTCTGCAAGCGGGAAACCTGAGATTCAGAAAGGTTAGTCAACTTTCCCAAGGTCAGGCAGCTTGAAAGCCTGAGGGCAAAGCCTTTATTGGTGCAGGAATGAATGAATGTGCACCAGCAATAAGGCAAGAAGAGGGTCAGTGGAGAGGTCTTCAGACCCTGAGCCTAGAATGAGCCATCCTCTCCCTGCAGCTGGTGGTAGGGGACCTTGGCCTGGTGGGCAGCAGCCCCGCCTGAAGGTGCTCAAAGGACCACTGGTGATGACCGAAAGCCCGCTACCTGCTCTGCCAGCTGCTGCTGCCACCTTCCTCATGGAGCAACATGAGCCCCGGACCCCAGCTCTGGCACTTGCTTCAGGCCCTTGTGTCTATGTGTATAAGAATCTCAGACCCTACTTCAAGTTCAGCCTGCCCCAATTGCCTCCAAATCCTCTGGAACAAGACCTTTGGAACCAGGCCAAAGAGGTAAATAAATAACATGGGAGTTGGGAACCAGAAGGCAAAGATGGCAGCCACTGGGTGAAGAGGGCTGGGCTCCTGGGAAGAACGTGGGCTGGTGGCAGGAGGTCAGCTATAGTCCATCTCTGACAGCAGCAGTGATGGCACTTTTTTTTTTTTTGAGACGGAGTTTCACTCTTGTTGCCCAGACTGGAGTGCAATGACGTGATCTTGGTTCACTGCAGCCTCTGGCTCCCGGGTTAAAGCAATTCTTCTGTCTCATCCTCCTGAGTAGCTGGGATTGCAGGCACCAGCAACCACGCCTGGCGAATTTTTTGTATGTGTTAGTAGAGACAAGGTTTTACTATGTTGGCCAGGCTGGTCTTGAACTCCTGGCCTCATATGATCTACCCACCTCGGCCTCCCAAAGTGTTGGGATTACAGGCATGAACCACCGTGCCCAGCCTAGTGATGGCACTTCTGGACAAGGTGTTGTGCTTGGCTACTCAGCATGGCTCCCAGAGAGGCACTGAGCCAGTTCTCTTGGAGAGTGGAACCCAGAAAATTTCTCTGCACTAGCCACATCCCTGCCCAAATTTGAGGAAGATGAAACCAAAGAAGGTAGGGGCCTGTCAGAGAAGAAGGAGGACTGGAAACACCAAGAGAGGAGGGGAATTTGGGGAGGCATGGATTTGGGGAGGGATGATGTACATGGCCATGAGACTGGATTCAGATAAAGGACGTGAGCTTGGTGCTCAGTGCAGAGGTAGGCTGGCAGGGAGGCAGAGACCAAGAGGTACCCCTAGAAGTGTGGAGCTGTCTGGGGGTGTAGACATTGGGTTTCCTGCCTGGCTTGAGCTCACAGGCTCTCTTCCCACATTGTCACAGGACCGAATCGACCCCTTAACCCTGAAGGAGATGCTGGAGAGCATCCGGTGAGAGGCTGCCTTCCCCTTCATACCCCCCTCACTCCTTCATCCCATCTGAGCCCCAGGGCCCCATTCTTCCATTCGGCTGCCATGCTGGCCCCTTTCCTTGCAGGGAGACGGCAGAGGAGCCTTTGTCCATCCAGTCACTCAGGTAAGGACCCTGTGGAGGGCCAGGGTTTGGGAGGCTCCAGGGAGAGGAAGCAGCCGCCAGAATGTGCCAGAATGATGGAGGAGGGCAGCGAGGCCGGGGCCTGCAGATGCCAGTTCTCTGTGTGTCTAGGTTTCTGCAGCTGGAGCTAAGTGAAATGGAGGCATTTGTAAACCAACACAAGTCCAACTCCATCAAGCGGCAGGTAATACCCCCTTCTCTTTTTATTTCCCTGTAAAAAAATTTACATTTTTTTAAAAGACCACTTAACATCAGTGGTAAATTCTATAAGCAAACCCAACCAGTATCTCTTTGCTATATCCCTTCCAGCCATGCCATGTGTGTGTAGTCATAAAGCTGCAGTGACTTCCACATTCCAGTTAGTAGTGACAGCTTTTTTTTTTTTTTTTTTTTTTTGAGACAGTCTTGCTCTGTCACCCAGGCTGGAGTACAGTGGCACAATCTCAGCTCACTACAACCTCTGTTTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTATAGGCATGCACCAACACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGTCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCGCCTACCTTGACCTCCCAAAGTGCTCAGATTACAGGTGTGAGCCATCGTGCCATGCCAACCACTCACATTTTTGAGTTATCATTAACATTTGGGATGGGAATAGN | pathogenic | 178,849 |
Mutation found at chromosome 11 position 66514468, gene BBS1 (Bardet-Biedl syndrome 1): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Bardet-Biedl_syndrome', 'Bardet-Biedl_syndrome_1', 'Retinal_dystrophy'] | CAGAGAGTGCAATAGGACTCAGTGGTTTTTGCCCCCAAATTCCTATCCATAATGTATTCAGTAATTCAGCAAGTGTATAGTGAGTCCCTACTGTGTGTCAGGCATCATGGGGACACTACACTCAGAAATGCATCAGCATGTGGTCAGGAGGAGATACACTGTCGACAATTATTCCATGATATTGATTGAATACCTAGTTTGTATTTGGCTCTGGGCTTACAATAGTGAGGGAAGAGAAACCACAGACACAGTAGCTAATAAGAAATGTTAGCCAGGCACAGTGGCTCATGCCTGTAATCCCAGCACTTTAGGAGGAGGCCAAGGCGGGTGGATCACGAGGTCAGGAGTTTGAGACCAGCCTGGACAACATGGTGAAACCCTGTCTGTACTAAAAATACAAAAATCAGCCGGGCGTGGTGGCAGGCGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCTTGAAACCAGAAGGCGGAGGTTGCAGTGAGCCGAAATCACGCCATCGCACTTCAGCCTGGGTGACAGAGCGAGACTCCATCTCAAAAAAAAAAAGAAATGTTAAATATCTTCACATAATAGAATGTTTAATGGCTAGTTTATTCACCATTGAGTCCCAGCATCTAGTCCAGTACCTGACATAAAGTAGGTACTTGATAAATATTTGTGGGGAAGTGAGTAGATGCTAAAATTGAACATGTAGAAAGTATTACGGGAGCGCCAACGAGAACAATGGATTCTGTCTGGAGGCACCAGGAGGTAGTAATGTGTGAACTGGGCATTGAAGGATGAATGAAGTCTATCAAGAAGTCAAGGATGAGAGGATGGGGAAGGCATTTCAGGTAGAAGAAACAGCACAAGCAGAAGGACAGAGACTTAGAAGTTCATAGCATATTTGGAAAGAATAAATGTGAAGTTAGAAAGTTGAGACCCATATAAAATAACTACCACATAAAATAGTAGTTAAGACTATGGCTTTGGATTCAGACAGAACTAGCTCTACCACTTAATAGCTGTATGACTTTTACTTAACTTCTCTAAGACACAGCTTCCTCATTTGAGAAATGAGGCTAATAATGGTGCCTACTTCATAAGGTTGTTGAAAGCCAGGTGTAGTGGCACACACCTGTAGTCCTAGCTGCTTGGGAGGCTAAGGTGGGAAGACTGCTTAAGCCCAGGAGTTTGAGGCTGCAGCGAGCCATGATCGCACCACTGCACTCCAGCCTAGGTGACAGAGCAAGACCCAGTCGCTTAAAAATAATAAGACTGTTGAGAGGGTTAAATGAAACGATGCATGCAGTTTCTGATGTGGTCCCTGGCATATACTGCATGCTCAGTATCCAGGAGTTCTTGGGTACCCCCTTTCTGGCCGGAGCACAGCAATGGGAAGGGTGATAGGAAACAAGTTGGGAACTAGATCAGAGAGGCCTTCCAGGCCTCATTCAGGGAAATGGGCTTGTGTGGCAGCTCCAGCAGCTTGGAAGATGGATTAGAGGGTGGAAAGCTGAGATCAAGGAGCTTGTTTCCCCTCTGTGTGTCCACAGAGCACATCCTGCCCTGCATTTGGAAACCAGGCTTCAGCAGCCCAGATATGGGTGTCCCCGTCCCCTCCCACACTGACCTCTACCACTGTCCCAGTATCTCTCTAGAAGTGCCTGGTGTGGAAGAAATGTTTGCTGAATGAATAATAAAAACATCAACTGCCACTTATTCCTCAGTAGCACTTACCAGGTTCTGTAACTCATTATCTCACTTGATTTTCACCACATACCATGAAAGTATCACCATTCTGCAAGCGGGAAACCTGAGATTCAGAAAGGTTAGTCAACTTTCCCAAGGTCAGGCAGCTTGAAAGCCTGAGGGCAAAGCCTTTATTGGTGCAGGAATGAATGAATGTGCACCAGCAATAAGGCAAGAAGAGGGTCAGTGGAGAGGTCTTCAGACCCTGAGCCTAGAATGAGCCATCCTCTCCCTGCAGCTGGTGGTAGGGGACCTTGGCCCTGGTGGGCAGCAGCCCCGCCTGAAGGTGCTCAAAGGACCACTGGTGATGACCGAAAGCCCGCTACCTGCTCTGCCAGCTGCTGCTGCCACCTTCCTCATGGAGCAACATGAGCCCCGGACCCCAGCTCTGGCACTTGCTTCAGGCCCTTGTGTCTATGTGTATAAGAATCTCAGACCCTACTTCAAGTTCAGCCTGCCCCAATTGCCTCCAAATCCTCTGGAACAAGACCTTTGGAACCAGGCCAAAGAGGTAAATAAATAACATGGGAGTTGGGAACCAGAAGGCAAAGATGGCAGCCACTGGGTGAAGAGGGCTGGGCTCCTGGGAAGAACGTGGGCTGGTGGCAGGAGGTCAGCTATAGTCCATCTCTGACAGCAGCAGTGATGGCACTTTTTTTTTTTTTGAGACGGAGTTTCACTCTTGTTGCCCAGACTGGAGTGCAATGACGTGATCTTGGTTCACTGCAGCCTCTGGCTCCCGGGTTAAAGCAATTCTTCTGTCTCATCCTCCTGAGTAGCTGGGATTGCAGGCACCAGCAACCACGCCTGGCGAATTTTTTGTATGTGTTAGTAGAGACAAGGTTTTACTATGTTGGCCAGGCTGGTCTTGAACTCCTGGCCTCATATGATCTACCCACCTCGGCCTCCCAAAGTGTTGGGATTACAGGCATGAACCACCGTGCCCAGCCTAGTGATGGCACTTCTGGACAAGGTGTTGTGCTTGGCTACTCAGCATGGCTCCCAGAGAGGCACTGAGCCAGTTCTCTTGGAGAGTGGAACCCAGAAAATTTCTCTGCACTAGCCACATCCCTGCCCAAATTTGAGGAAGATGAAACCAAAGAAGGTAGGGGCCTGTCAGAGAAGAAGGAGGACTGGAAACACCAAGAGAGGAGGGGAATTTGGGGAGGCATGGATTTGGGGAGGGATGATGTACATGGCCATGAGACTGGATTCAGATAAAGGACGTGAGCTTGGTGCTCAGTGCAGAGGTAGGCTGGCAGGGAGGCAGAGACCAAGAGGTACCCCTAGAAGTGTGGAGCTGTCTGGGGGTGTAGACATTGGGTTTCCTGCCTGGCTTGAGCTCACAGGCTCTCTTCCCACATTGTCACAGGACCGAATCGACCCCTTAACCCTGAAGGAGATGCTGGAGAGCATCCGGTGAGAGGCTGCCTTCCCCTTCATACCCCCCTCACTCCTTCATCCCATCTGAGCCCCAGGGCCCCATTCTTCCATTCGGCTGCCATGCTGGCCCCTTTCCTTGCAGGGAGACGGCAGAGGAGCCTTTGTCCATCCAGTCACTCAGGTAAGGACCCTGTGGAGGGCCAGGGTTTGGGAGGCTCCAGGGAGAGGAAGCAGCCGCCAGAATGTGCCAGAATGATGGAGGAGGGCAGCGAGGCCGGGGCCTGCAGATGCCAGTTCTCTGTGTGTCTAGGTTTCTGCAGCTGGAGCTAAGTGAAATGGAGGCATTTGTAAACCAACACAAGTCCAACTCCATCAAGCGGCAGGTAATACCCCCTTCTCTTTTTATTTCCCTGTAAAAAAATTTACATTTTTTTAAAAGACCACTTAACATCAGTGGTAAATTCTATAAGCAAACCCAACCAGTATCTCTTTGCTATATCCCTTCCAGCCATGCCATGTGTGTGTAGTCATAAAGCTGCAGTGACTTCCACATTCCAGTTAGTAGTGACAGCTTTTTTTTTTTTTTTTTTTTTTTGAGACAGTCTTGCTCTGTCACCCAGGCTGGAGTACAGTGGCACAATCTCAGCTCACTACAACCTCTGTTTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTATAGGCATGCACCAACACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGTCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCGCCTACCTTGACCTCCCAAAGTGCTCAGATTACAGGTGTGAGCCATCGTGCCATGCCAACCACTCACATTTTTGAGTTATCATTAACATTTGGGATGGGAATAGTTACCACTAATATTTGTCCACATTTTTGTAAGCTTTCGCCTTC | CAGAGAGTGCAATAGGACTCAGTGGTTTTTGCCCCCAAATTCCTATCCATAATGTATTCAGTAATTCAGCAAGTGTATAGTGAGTCCCTACTGTGTGTCAGGCATCATGGGGACACTACACTCAGAAATGCATCAGCATGTGGTCAGGAGGAGATACACTGTCGACAATTATTCCATGATATTGATTGAATACCTAGTTTGTATTTGGCTCTGGGCTTACAATAGTGAGGGAAGAGAAACCACAGACACAGTAGCTAATAAGAAATGTTAGCCAGGCACAGTGGCTCATGCCTGTAATCCCAGCACTTTAGGAGGAGGCCAAGGCGGGTGGATCACGAGGTCAGGAGTTTGAGACCAGCCTGGACAACATGGTGAAACCCTGTCTGTACTAAAAATACAAAAATCAGCCGGGCGTGGTGGCAGGCGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCTTGAAACCAGAAGGCGGAGGTTGCAGTGAGCCGAAATCACGCCATCGCACTTCAGCCTGGGTGACAGAGCGAGACTCCATCTCAAAAAAAAAAAGAAATGTTAAATATCTTCACATAATAGAATGTTTAATGGCTAGTTTATTCACCATTGAGTCCCAGCATCTAGTCCAGTACCTGACATAAAGTAGGTACTTGATAAATATTTGTGGGGAAGTGAGTAGATGCTAAAATTGAACATGTAGAAAGTATTACGGGAGCGCCAACGAGAACAATGGATTCTGTCTGGAGGCACCAGGAGGTAGTAATGTGTGAACTGGGCATTGAAGGATGAATGAAGTCTATCAAGAAGTCAAGGATGAGAGGATGGGGAAGGCATTTCAGGTAGAAGAAACAGCACAAGCAGAAGGACAGAGACTTAGAAGTTCATAGCATATTTGGAAAGAATAAATGTGAAGTTAGAAAGTTGAGACCCATATAAAATAACTACCACATAAAATAGTAGTTAAGACTATGGCTTTGGATTCAGACAGAACTAGCTCTACCACTTAATAGCTGTATGACTTTTACTTAACTTCTCTAAGACACAGCTTCCTCATTTGAGAAATGAGGCTAATAATGGTGCCTACTTCATAAGGTTGTTGAAAGCCAGGTGTAGTGGCACACACCTGTAGTCCTAGCTGCTTGGGAGGCTAAGGTGGGAAGACTGCTTAAGCCCAGGAGTTTGAGGCTGCAGCGAGCCATGATCGCACCACTGCACTCCAGCCTAGGTGACAGAGCAAGACCCAGTCGCTTAAAAATAATAAGACTGTTGAGAGGGTTAAATGAAACGATGCATGCAGTTTCTGATGTGGTCCCTGGCATATACTGCATGCTCAGTATCCAGGAGTTCTTGGGTACCCCCTTTCTGGCCGGAGCACAGCAATGGGAAGGGTGATAGGAAACAAGTTGGGAACTAGATCAGAGAGGCCTTCCAGGCCTCATTCAGGGAAATGGGCTTGTGTGGCAGCTCCAGCAGCTTGGAAGATGGATTAGAGGGTGGAAAGCTGAGATCAAGGAGCTTGTTTCCCCTCTGTGTGTCCACAGAGCACATCCTGCCCTGCATTTGGAAACCAGGCTTCAGCAGCCCAGATATGGGTGTCCCCGTCCCCTCCCACACTGACCTCTACCACTGTCCCAGTATCTCTCTAGAAGTGCCTGGTGTGGAAGAAATGTTTGCTGAATGAATAATAAAAACATCAACTGCCACTTATTCCTCAGTAGCACTTACCAGGTTCTGTAACTCATTATCTCACTTGATTTTCACCACATACCATGAAAGTATCACCATTCTGCAAGCGGGAAACCTGAGATTCAGAAAGGTTAGTCAACTTTCCCAAGGTCAGGCAGCTTGAAAGCCTGAGGGCAAAGCCTTTATTGGTGCAGGAATGAATGAATGTGCACCAGCAATAAGGCAAGAAGAGGGTCAGTGGAGAGGTCTTCAGACCCTGAGCCTAGAATGAGCCATCCTCTCCCTGCAGCTGGTGGTAGGGGACCTTGGCCCTGGTGGGCAGCAGCCCCGCCTGAAGGTGCTCAAAGGACCAGGTGATGACCGAAAGCCCGCTACCTGCTCTGCCAGCTGCTGCTGCCACCTTCCTCATGGAGCAACATGAGCCCCGGACCCCAGCTCTGGCACTTGCTTCAGGCCCTTGTGTCTATGTGTATAAGAATCTCAGACCCTACTTCAAGTTCAGCCTGCCCCAATTGCCTCCAAATCCTCTGGAACAAGACCTTTGGAACCAGGCCAAAGAGGTAAATAAATAACATGGGAGTTGGGAACCAGAAGGCAAAGATGGCAGCCACTGGGTGAAGAGGGCTGGGCTCCTGGGAAGAACGTGGGCTGGTGGCAGGAGGTCAGCTATAGTCCATCTCTGACAGCAGCAGTGATGGCACTTTTTTTTTTTTTGAGACGGAGTTTCACTCTTGTTGCCCAGACTGGAGTGCAATGACGTGATCTTGGTTCACTGCAGCCTCTGGCTCCCGGGTTAAAGCAATTCTTCTGTCTCATCCTCCTGAGTAGCTGGGATTGCAGGCACCAGCAACCACGCCTGGCGAATTTTTTGTATGTGTTAGTAGAGACAAGGTTTTACTATGTTGGCCAGGCTGGTCTTGAACTCCTGGCCTCATATGATCTACCCACCTCGGCCTCCCAAAGTGTTGGGATTACAGGCATGAACCACCGTGCCCAGCCTAGTGATGGCACTTCTGGACAAGGTGTTGTGCTTGGCTACTCAGCATGGCTCCCAGAGAGGCACTGAGCCAGTTCTCTTGGAGAGTGGAACCCAGAAAATTTCTCTGCACTAGCCACATCCCTGCCCAAATTTGAGGAAGATGAAACCAAAGAAGGTAGGGGCCTGTCAGAGAAGAAGGAGGACTGGAAACACCAAGAGAGGAGGGGAATTTGGGGAGGCATGGATTTGGGGAGGGATGATGTACATGGCCATGAGACTGGATTCAGATAAAGGACGTGAGCTTGGTGCTCAGTGCAGAGGTAGGCTGGCAGGGAGGCAGAGACCAAGAGGTACCCCTAGAAGTGTGGAGCTGTCTGGGGGTGTAGACATTGGGTTTCCTGCCTGGCTTGAGCTCACAGGCTCTCTTCCCACATTGTCACAGGACCGAATCGACCCCTTAACCCTGAAGGAGATGCTGGAGAGCATCCGGTGAGAGGCTGCCTTCCCCTTCATACCCCCCTCACTCCTTCATCCCATCTGAGCCCCAGGGCCCCATTCTTCCATTCGGCTGCCATGCTGGCCCCTTTCCTTGCAGGGAGACGGCAGAGGAGCCTTTGTCCATCCAGTCACTCAGGTAAGGACCCTGTGGAGGGCCAGGGTTTGGGAGGCTCCAGGGAGAGGAAGCAGCCGCCAGAATGTGCCAGAATGATGGAGGAGGGCAGCGAGGCCGGGGCCTGCAGATGCCAGTTCTCTGTGTGTCTAGGTTTCTGCAGCTGGAGCTAAGTGAAATGGAGGCATTTGTAAACCAACACAAGTCCAACTCCATCAAGCGGCAGGTAATACCCCCTTCTCTTTTTATTTCCCTGTAAAAAAATTTACATTTTTTTAAAAGACCACTTAACATCAGTGGTAAATTCTATAAGCAAACCCAACCAGTATCTCTTTGCTATATCCCTTCCAGCCATGCCATGTGTGTGTAGTCATAAAGCTGCAGTGACTTCCACATTCCAGTTAGTAGTGACAGCTTTTTTTTTTTTTTTTTTTTTTTGAGACAGTCTTGCTCTGTCACCCAGGCTGGAGTACAGTGGCACAATCTCAGCTCACTACAACCTCTGTTTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTATAGGCATGCACCAACACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGTCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCGCCTACCTTGACCTCCCAAAGTGCTCAGATTACAGGTGTGAGCCATCGTGCCATGCCAACCACTCACATTTTTGAGTTATCATTAACATTTGGGATGGGAATAGTTACCACTAATATTTGTCCACATTTTTGTAAGCTTTCGCCTTCNN | pathogenic | 178,851 |
Determine whether the variant at chromosome 11, position 66514564, in gene BBS1 (Bardet-Biedl syndrome 1) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Bardet-Biedl_syndrome', 'Bardet-Biedl_syndrome_1'] | GTCAGGCATCATGGGGACACTACACTCAGAAATGCATCAGCATGTGGTCAGGAGGAGATACACTGTCGACAATTATTCCATGATATTGATTGAATACCTAGTTTGTATTTGGCTCTGGGCTTACAATAGTGAGGGAAGAGAAACCACAGACACAGTAGCTAATAAGAAATGTTAGCCAGGCACAGTGGCTCATGCCTGTAATCCCAGCACTTTAGGAGGAGGCCAAGGCGGGTGGATCACGAGGTCAGGAGTTTGAGACCAGCCTGGACAACATGGTGAAACCCTGTCTGTACTAAAAATACAAAAATCAGCCGGGCGTGGTGGCAGGCGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCTTGAAACCAGAAGGCGGAGGTTGCAGTGAGCCGAAATCACGCCATCGCACTTCAGCCTGGGTGACAGAGCGAGACTCCATCTCAAAAAAAAAAAGAAATGTTAAATATCTTCACATAATAGAATGTTTAATGGCTAGTTTATTCACCATTGAGTCCCAGCATCTAGTCCAGTACCTGACATAAAGTAGGTACTTGATAAATATTTGTGGGGAAGTGAGTAGATGCTAAAATTGAACATGTAGAAAGTATTACGGGAGCGCCAACGAGAACAATGGATTCTGTCTGGAGGCACCAGGAGGTAGTAATGTGTGAACTGGGCATTGAAGGATGAATGAAGTCTATCAAGAAGTCAAGGATGAGAGGATGGGGAAGGCATTTCAGGTAGAAGAAACAGCACAAGCAGAAGGACAGAGACTTAGAAGTTCATAGCATATTTGGAAAGAATAAATGTGAAGTTAGAAAGTTGAGACCCATATAAAATAACTACCACATAAAATAGTAGTTAAGACTATGGCTTTGGATTCAGACAGAACTAGCTCTACCACTTAATAGCTGTATGACTTTTACTTAACTTCTCTAAGACACAGCTTCCTCATTTGAGAAATGAGGCTAATAATGGTGCCTACTTCATAAGGTTGTTGAAAGCCAGGTGTAGTGGCACACACCTGTAGTCCTAGCTGCTTGGGAGGCTAAGGTGGGAAGACTGCTTAAGCCCAGGAGTTTGAGGCTGCAGCGAGCCATGATCGCACCACTGCACTCCAGCCTAGGTGACAGAGCAAGACCCAGTCGCTTAAAAATAATAAGACTGTTGAGAGGGTTAAATGAAACGATGCATGCAGTTTCTGATGTGGTCCCTGGCATATACTGCATGCTCAGTATCCAGGAGTTCTTGGGTACCCCCTTTCTGGCCGGAGCACAGCAATGGGAAGGGTGATAGGAAACAAGTTGGGAACTAGATCAGAGAGGCCTTCCAGGCCTCATTCAGGGAAATGGGCTTGTGTGGCAGCTCCAGCAGCTTGGAAGATGGATTAGAGGGTGGAAAGCTGAGATCAAGGAGCTTGTTTCCCCTCTGTGTGTCCACAGAGCACATCCTGCCCTGCATTTGGAAACCAGGCTTCAGCAGCCCAGATATGGGTGTCCCCGTCCCCTCCCACACTGACCTCTACCACTGTCCCAGTATCTCTCTAGAAGTGCCTGGTGTGGAAGAAATGTTTGCTGAATGAATAATAAAAACATCAACTGCCACTTATTCCTCAGTAGCACTTACCAGGTTCTGTAACTCATTATCTCACTTGATTTTCACCACATACCATGAAAGTATCACCATTCTGCAAGCGGGAAACCTGAGATTCAGAAAGGTTAGTCAACTTTCCCAAGGTCAGGCAGCTTGAAAGCCTGAGGGCAAAGCCTTTATTGGTGCAGGAATGAATGAATGTGCACCAGCAATAAGGCAAGAAGAGGGTCAGTGGAGAGGTCTTCAGACCCTGAGCCTAGAATGAGCCATCCTCTCCCTGCAGCTGGTGGTAGGGGACCTTGGCCCTGGTGGGCAGCAGCCCCGCCTGAAGGTGCTCAAAGGACCACTGGTGATGACCGAAAGCCCGCTACCTGCTCTGCCAGCTGCTGCTGCCACCTTCCTCATGGAGCAACATGAGCCCCGGACCCCAGCTCTGGCACTTGCTTCAGGCCCTTGTGTCTATGTGTATAAGAATCTCAGACCCTACTTCAAGTTCAGCCTGCCCCAATTGCCTCCAAATCCTCTGGAACAAGACCTTTGGAACCAGGCCAAAGAGGTAAATAAATAACATGGGAGTTGGGAACCAGAAGGCAAAGATGGCAGCCACTGGGTGAAGAGGGCTGGGCTCCTGGGAAGAACGTGGGCTGGTGGCAGGAGGTCAGCTATAGTCCATCTCTGACAGCAGCAGTGATGGCACTTTTTTTTTTTTTGAGACGGAGTTTCACTCTTGTTGCCCAGACTGGAGTGCAATGACGTGATCTTGGTTCACTGCAGCCTCTGGCTCCCGGGTTAAAGCAATTCTTCTGTCTCATCCTCCTGAGTAGCTGGGATTGCAGGCACCAGCAACCACGCCTGGCGAATTTTTTGTATGTGTTAGTAGAGACAAGGTTTTACTATGTTGGCCAGGCTGGTCTTGAACTCCTGGCCTCATATGATCTACCCACCTCGGCCTCCCAAAGTGTTGGGATTACAGGCATGAACCACCGTGCCCAGCCTAGTGATGGCACTTCTGGACAAGGTGTTGTGCTTGGCTACTCAGCATGGCTCCCAGAGAGGCACTGAGCCAGTTCTCTTGGAGAGTGGAACCCAGAAAATTTCTCTGCACTAGCCACATCCCTGCCCAAATTTGAGGAAGATGAAACCAAAGAAGGTAGGGGCCTGTCAGAGAAGAAGGAGGACTGGAAACACCAAGAGAGGAGGGGAATTTGGGGAGGCATGGATTTGGGGAGGGATGATGTACATGGCCATGAGACTGGATTCAGATAAAGGACGTGAGCTTGGTGCTCAGTGCAGAGGTAGGCTGGCAGGGAGGCAGAGACCAAGAGGTACCCCTAGAAGTGTGGAGCTGTCTGGGGGTGTAGACATTGGGTTTCCTGCCTGGCTTGAGCTCACAGGCTCTCTTCCCACATTGTCACAGGACCGAATCGACCCCTTAACCCTGAAGGAGATGCTGGAGAGCATCCGGTGAGAGGCTGCCTTCCCCTTCATACCCCCCTCACTCCTTCATCCCATCTGAGCCCCAGGGCCCCATTCTTCCATTCGGCTGCCATGCTGGCCCCTTTCCTTGCAGGGAGACGGCAGAGGAGCCTTTGTCCATCCAGTCACTCAGGTAAGGACCCTGTGGAGGGCCAGGGTTTGGGAGGCTCCAGGGAGAGGAAGCAGCCGCCAGAATGTGCCAGAATGATGGAGGAGGGCAGCGAGGCCGGGGCCTGCAGATGCCAGTTCTCTGTGTGTCTAGGTTTCTGCAGCTGGAGCTAAGTGAAATGGAGGCATTTGTAAACCAACACAAGTCCAACTCCATCAAGCGGCAGGTAATACCCCCTTCTCTTTTTATTTCCCTGTAAAAAAATTTACATTTTTTTAAAAGACCACTTAACATCAGTGGTAAATTCTATAAGCAAACCCAACCAGTATCTCTTTGCTATATCCCTTCCAGCCATGCCATGTGTGTGTAGTCATAAAGCTGCAGTGACTTCCACATTCCAGTTAGTAGTGACAGCTTTTTTTTTTTTTTTTTTTTTTTGAGACAGTCTTGCTCTGTCACCCAGGCTGGAGTACAGTGGCACAATCTCAGCTCACTACAACCTCTGTTTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTATAGGCATGCACCAACACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGTCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCGCCTACCTTGACCTCCCAAAGTGCTCAGATTACAGGTGTGAGCCATCGTGCCATGCCAACCACTCACATTTTTGAGTTATCATTAACATTTGGGATGGGAATAGTTACCACTAATATTTGTCCACATTTTTGTAAGCTTTCGCCTTCCATTAGGCACTGAAAATCATTCCTCTTTTTTAATCTCTTTTGGGGAAGGGTAGGGAGCTGGGTCTTCCTCCGTCACCCAGGCTGGAGTGCAGTGGT | GTCAGGCATCATGGGGACACTACACTCAGAAATGCATCAGCATGTGGTCAGGAGGAGATACACTGTCGACAATTATTCCATGATATTGATTGAATACCTAGTTTGTATTTGGCTCTGGGCTTACAATAGTGAGGGAAGAGAAACCACAGACACAGTAGCTAATAAGAAATGTTAGCCAGGCACAGTGGCTCATGCCTGTAATCCCAGCACTTTAGGAGGAGGCCAAGGCGGGTGGATCACGAGGTCAGGAGTTTGAGACCAGCCTGGACAACATGGTGAAACCCTGTCTGTACTAAAAATACAAAAATCAGCCGGGCGTGGTGGCAGGCGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCTTGAAACCAGAAGGCGGAGGTTGCAGTGAGCCGAAATCACGCCATCGCACTTCAGCCTGGGTGACAGAGCGAGACTCCATCTCAAAAAAAAAAAGAAATGTTAAATATCTTCACATAATAGAATGTTTAATGGCTAGTTTATTCACCATTGAGTCCCAGCATCTAGTCCAGTACCTGACATAAAGTAGGTACTTGATAAATATTTGTGGGGAAGTGAGTAGATGCTAAAATTGAACATGTAGAAAGTATTACGGGAGCGCCAACGAGAACAATGGATTCTGTCTGGAGGCACCAGGAGGTAGTAATGTGTGAACTGGGCATTGAAGGATGAATGAAGTCTATCAAGAAGTCAAGGATGAGAGGATGGGGAAGGCATTTCAGGTAGAAGAAACAGCACAAGCAGAAGGACAGAGACTTAGAAGTTCATAGCATATTTGGAAAGAATAAATGTGAAGTTAGAAAGTTGAGACCCATATAAAATAACTACCACATAAAATAGTAGTTAAGACTATGGCTTTGGATTCAGACAGAACTAGCTCTACCACTTAATAGCTGTATGACTTTTACTTAACTTCTCTAAGACACAGCTTCCTCATTTGAGAAATGAGGCTAATAATGGTGCCTACTTCATAAGGTTGTTGAAAGCCAGGTGTAGTGGCACACACCTGTAGTCCTAGCTGCTTGGGAGGCTAAGGTGGGAAGACTGCTTAAGCCCAGGAGTTTGAGGCTGCAGCGAGCCATGATCGCACCACTGCACTCCAGCCTAGGTGACAGAGCAAGACCCAGTCGCTTAAAAATAATAAGACTGTTGAGAGGGTTAAATGAAACGATGCATGCAGTTTCTGATGTGGTCCCTGGCATATACTGCATGCTCAGTATCCAGGAGTTCTTGGGTACCCCCTTTCTGGCCGGAGCACAGCAATGGGAAGGGTGATAGGAAACAAGTTGGGAACTAGATCAGAGAGGCCTTCCAGGCCTCATTCAGGGAAATGGGCTTGTGTGGCAGCTCCAGCAGCTTGGAAGATGGATTAGAGGGTGGAAAGCTGAGATCAAGGAGCTTGTTTCCCCTCTGTGTGTCCACAGAGCACATCCTGCCCTGCATTTGGAAACCAGGCTTCAGCAGCCCAGATATGGGTGTCCCCGTCCCCTCCCACACTGACCTCTACCACTGTCCCAGTATCTCTCTAGAAGTGCCTGGTGTGGAAGAAATGTTTGCTGAATGAATAATAAAAACATCAACTGCCACTTATTCCTCAGTAGCACTTACCAGGTTCTGTAACTCATTATCTCACTTGATTTTCACCACATACCATGAAAGTATCACCATTCTGCAAGCGGGAAACCTGAGATTCAGAAAGGTTAGTCAACTTTCCCAAGGTCAGGCAGCTTGAAAGCCTGAGGGCAAAGCCTTTATTGGTGCAGGAATGAATGAATGTGCACCAGCAATAAGGCAAGAAGAGGGTCAGTGGAGAGGTCTTCAGACCCTGAGCCTAGAATGAGCCATCCTCTCCCTGCAGCTGGTGGTAGGGGACCTTGGCCCTGGTGGGCAGCAGCCCCGCCTGAAGGTGCTCAAAGGACCACTGGTGATGACCGAAAGCCCGCTACCTGCTCTGCCAGCTGCTGCTGCCACCTTCCTCATGGAGCAACATGAGCCCCGGACCCCAGCTCTGGCACTTGGCTTCAGGCCCTTGTGTCTATGTGTATAAGAATCTCAGACCCTACTTCAAGTTCAGCCTGCCCCAATTGCCTCCAAATCCTCTGGAACAAGACCTTTGGAACCAGGCCAAAGAGGTAAATAAATAACATGGGAGTTGGGAACCAGAAGGCAAAGATGGCAGCCACTGGGTGAAGAGGGCTGGGCTCCTGGGAAGAACGTGGGCTGGTGGCAGGAGGTCAGCTATAGTCCATCTCTGACAGCAGCAGTGATGGCACTTTTTTTTTTTTTGAGACGGAGTTTCACTCTTGTTGCCCAGACTGGAGTGCAATGACGTGATCTTGGTTCACTGCAGCCTCTGGCTCCCGGGTTAAAGCAATTCTTCTGTCTCATCCTCCTGAGTAGCTGGGATTGCAGGCACCAGCAACCACGCCTGGCGAATTTTTTGTATGTGTTAGTAGAGACAAGGTTTTACTATGTTGGCCAGGCTGGTCTTGAACTCCTGGCCTCATATGATCTACCCACCTCGGCCTCCCAAAGTGTTGGGATTACAGGCATGAACCACCGTGCCCAGCCTAGTGATGGCACTTCTGGACAAGGTGTTGTGCTTGGCTACTCAGCATGGCTCCCAGAGAGGCACTGAGCCAGTTCTCTTGGAGAGTGGAACCCAGAAAATTTCTCTGCACTAGCCACATCCCTGCCCAAATTTGAGGAAGATGAAACCAAAGAAGGTAGGGGCCTGTCAGAGAAGAAGGAGGACTGGAAACACCAAGAGAGGAGGGGAATTTGGGGAGGCATGGATTTGGGGAGGGATGATGTACATGGCCATGAGACTGGATTCAGATAAAGGACGTGAGCTTGGTGCTCAGTGCAGAGGTAGGCTGGCAGGGAGGCAGAGACCAAGAGGTACCCCTAGAAGTGTGGAGCTGTCTGGGGGTGTAGACATTGGGTTTCCTGCCTGGCTTGAGCTCACAGGCTCTCTTCCCACATTGTCACAGGACCGAATCGACCCCTTAACCCTGAAGGAGATGCTGGAGAGCATCCGGTGAGAGGCTGCCTTCCCCTTCATACCCCCCTCACTCCTTCATCCCATCTGAGCCCCAGGGCCCCATTCTTCCATTCGGCTGCCATGCTGGCCCCTTTCCTTGCAGGGAGACGGCAGAGGAGCCTTTGTCCATCCAGTCACTCAGGTAAGGACCCTGTGGAGGGCCAGGGTTTGGGAGGCTCCAGGGAGAGGAAGCAGCCGCCAGAATGTGCCAGAATGATGGAGGAGGGCAGCGAGGCCGGGGCCTGCAGATGCCAGTTCTCTGTGTGTCTAGGTTTCTGCAGCTGGAGCTAAGTGAAATGGAGGCATTTGTAAACCAACACAAGTCCAACTCCATCAAGCGGCAGGTAATACCCCCTTCTCTTTTTATTTCCCTGTAAAAAAATTTACATTTTTTTAAAAGACCACTTAACATCAGTGGTAAATTCTATAAGCAAACCCAACCAGTATCTCTTTGCTATATCCCTTCCAGCCATGCCATGTGTGTGTAGTCATAAAGCTGCAGTGACTTCCACATTCCAGTTAGTAGTGACAGCTTTTTTTTTTTTTTTTTTTTTTTGAGACAGTCTTGCTCTGTCACCCAGGCTGGAGTACAGTGGCACAATCTCAGCTCACTACAACCTCTGTTTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTATAGGCATGCACCAACACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGTCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCGCCTACCTTGACCTCCCAAAGTGCTCAGATTACAGGTGTGAGCCATCGTGCCATGCCAACCACTCACATTTTTGAGTTATCATTAACATTTGGGATGGGAATAGTTACCACTAATATTTGTCCACATTTTTGTAAGCTTTCGCCTTCCATTAGGCACTGAAAATCATTCCTCTTTTTTAATCTCTTTTGGGGAAGGGTAGGGAGCTGGGTCTTCCTCCGTCACCCAGGCTGGAGTGCAGTGG | pathogenic | 178,852 |
Clinical classification of chromosome 11, position 66514590, gene BBS1 (Bardet-Biedl syndrome 1): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Bardet-Biedl_syndrome', 'Bardet-Biedl_syndrome_1'] | CAGAAATGCATCAGCATGTGGTCAGGAGGAGATACACTGTCGACAATTATTCCATGATATTGATTGAATACCTAGTTTGTATTTGGCTCTGGGCTTACAATAGTGAGGGAAGAGAAACCACAGACACAGTAGCTAATAAGAAATGTTAGCCAGGCACAGTGGCTCATGCCTGTAATCCCAGCACTTTAGGAGGAGGCCAAGGCGGGTGGATCACGAGGTCAGGAGTTTGAGACCAGCCTGGACAACATGGTGAAACCCTGTCTGTACTAAAAATACAAAAATCAGCCGGGCGTGGTGGCAGGCGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCTTGAAACCAGAAGGCGGAGGTTGCAGTGAGCCGAAATCACGCCATCGCACTTCAGCCTGGGTGACAGAGCGAGACTCCATCTCAAAAAAAAAAAGAAATGTTAAATATCTTCACATAATAGAATGTTTAATGGCTAGTTTATTCACCATTGAGTCCCAGCATCTAGTCCAGTACCTGACATAAAGTAGGTACTTGATAAATATTTGTGGGGAAGTGAGTAGATGCTAAAATTGAACATGTAGAAAGTATTACGGGAGCGCCAACGAGAACAATGGATTCTGTCTGGAGGCACCAGGAGGTAGTAATGTGTGAACTGGGCATTGAAGGATGAATGAAGTCTATCAAGAAGTCAAGGATGAGAGGATGGGGAAGGCATTTCAGGTAGAAGAAACAGCACAAGCAGAAGGACAGAGACTTAGAAGTTCATAGCATATTTGGAAAGAATAAATGTGAAGTTAGAAAGTTGAGACCCATATAAAATAACTACCACATAAAATAGTAGTTAAGACTATGGCTTTGGATTCAGACAGAACTAGCTCTACCACTTAATAGCTGTATGACTTTTACTTAACTTCTCTAAGACACAGCTTCCTCATTTGAGAAATGAGGCTAATAATGGTGCCTACTTCATAAGGTTGTTGAAAGCCAGGTGTAGTGGCACACACCTGTAGTCCTAGCTGCTTGGGAGGCTAAGGTGGGAAGACTGCTTAAGCCCAGGAGTTTGAGGCTGCAGCGAGCCATGATCGCACCACTGCACTCCAGCCTAGGTGACAGAGCAAGACCCAGTCGCTTAAAAATAATAAGACTGTTGAGAGGGTTAAATGAAACGATGCATGCAGTTTCTGATGTGGTCCCTGGCATATACTGCATGCTCAGTATCCAGGAGTTCTTGGGTACCCCCTTTCTGGCCGGAGCACAGCAATGGGAAGGGTGATAGGAAACAAGTTGGGAACTAGATCAGAGAGGCCTTCCAGGCCTCATTCAGGGAAATGGGCTTGTGTGGCAGCTCCAGCAGCTTGGAAGATGGATTAGAGGGTGGAAAGCTGAGATCAAGGAGCTTGTTTCCCCTCTGTGTGTCCACAGAGCACATCCTGCCCTGCATTTGGAAACCAGGCTTCAGCAGCCCAGATATGGGTGTCCCCGTCCCCTCCCACACTGACCTCTACCACTGTCCCAGTATCTCTCTAGAAGTGCCTGGTGTGGAAGAAATGTTTGCTGAATGAATAATAAAAACATCAACTGCCACTTATTCCTCAGTAGCACTTACCAGGTTCTGTAACTCATTATCTCACTTGATTTTCACCACATACCATGAAAGTATCACCATTCTGCAAGCGGGAAACCTGAGATTCAGAAAGGTTAGTCAACTTTCCCAAGGTCAGGCAGCTTGAAAGCCTGAGGGCAAAGCCTTTATTGGTGCAGGAATGAATGAATGTGCACCAGCAATAAGGCAAGAAGAGGGTCAGTGGAGAGGTCTTCAGACCCTGAGCCTAGAATGAGCCATCCTCTCCCTGCAGCTGGTGGTAGGGGACCTTGGCCCTGGTGGGCAGCAGCCCCGCCTGAAGGTGCTCAAAGGACCACTGGTGATGACCGAAAGCCCGCTACCTGCTCTGCCAGCTGCTGCTGCCACCTTCCTCATGGAGCAACATGAGCCCCGGACCCCAGCTCTGGCACTTGCTTCAGGCCCTTGTGTCTATGTGTATAAGAATCTCAGACCCTACTTCAAGTTCAGCCTGCCCCAATTGCCTCCAAATCCTCTGGAACAAGACCTTTGGAACCAGGCCAAAGAGGTAAATAAATAACATGGGAGTTGGGAACCAGAAGGCAAAGATGGCAGCCACTGGGTGAAGAGGGCTGGGCTCCTGGGAAGAACGTGGGCTGGTGGCAGGAGGTCAGCTATAGTCCATCTCTGACAGCAGCAGTGATGGCACTTTTTTTTTTTTTGAGACGGAGTTTCACTCTTGTTGCCCAGACTGGAGTGCAATGACGTGATCTTGGTTCACTGCAGCCTCTGGCTCCCGGGTTAAAGCAATTCTTCTGTCTCATCCTCCTGAGTAGCTGGGATTGCAGGCACCAGCAACCACGCCTGGCGAATTTTTTGTATGTGTTAGTAGAGACAAGGTTTTACTATGTTGGCCAGGCTGGTCTTGAACTCCTGGCCTCATATGATCTACCCACCTCGGCCTCCCAAAGTGTTGGGATTACAGGCATGAACCACCGTGCCCAGCCTAGTGATGGCACTTCTGGACAAGGTGTTGTGCTTGGCTACTCAGCATGGCTCCCAGAGAGGCACTGAGCCAGTTCTCTTGGAGAGTGGAACCCAGAAAATTTCTCTGCACTAGCCACATCCCTGCCCAAATTTGAGGAAGATGAAACCAAAGAAGGTAGGGGCCTGTCAGAGAAGAAGGAGGACTGGAAACACCAAGAGAGGAGGGGAATTTGGGGAGGCATGGATTTGGGGAGGGATGATGTACATGGCCATGAGACTGGATTCAGATAAAGGACGTGAGCTTGGTGCTCAGTGCAGAGGTAGGCTGGCAGGGAGGCAGAGACCAAGAGGTACCCCTAGAAGTGTGGAGCTGTCTGGGGGTGTAGACATTGGGTTTCCTGCCTGGCTTGAGCTCACAGGCTCTCTTCCCACATTGTCACAGGACCGAATCGACCCCTTAACCCTGAAGGAGATGCTGGAGAGCATCCGGTGAGAGGCTGCCTTCCCCTTCATACCCCCCTCACTCCTTCATCCCATCTGAGCCCCAGGGCCCCATTCTTCCATTCGGCTGCCATGCTGGCCCCTTTCCTTGCAGGGAGACGGCAGAGGAGCCTTTGTCCATCCAGTCACTCAGGTAAGGACCCTGTGGAGGGCCAGGGTTTGGGAGGCTCCAGGGAGAGGAAGCAGCCGCCAGAATGTGCCAGAATGATGGAGGAGGGCAGCGAGGCCGGGGCCTGCAGATGCCAGTTCTCTGTGTGTCTAGGTTTCTGCAGCTGGAGCTAAGTGAAATGGAGGCATTTGTAAACCAACACAAGTCCAACTCCATCAAGCGGCAGGTAATACCCCCTTCTCTTTTTATTTCCCTGTAAAAAAATTTACATTTTTTTAAAAGACCACTTAACATCAGTGGTAAATTCTATAAGCAAACCCAACCAGTATCTCTTTGCTATATCCCTTCCAGCCATGCCATGTGTGTGTAGTCATAAAGCTGCAGTGACTTCCACATTCCAGTTAGTAGTGACAGCTTTTTTTTTTTTTTTTTTTTTTTGAGACAGTCTTGCTCTGTCACCCAGGCTGGAGTACAGTGGCACAATCTCAGCTCACTACAACCTCTGTTTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTATAGGCATGCACCAACACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGTCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCGCCTACCTTGACCTCCCAAAGTGCTCAGATTACAGGTGTGAGCCATCGTGCCATGCCAACCACTCACATTTTTGAGTTATCATTAACATTTGGGATGGGAATAGTTACCACTAATATTTGTCCACATTTTTGTAAGCTTTCGCCTTCCATTAGGCACTGAAAATCATTCCTCTTTTTTAATCTCTTTTGGGGAAGGGTAGGGAGCTGGGTCTTCCTCCGTCACCCAGGCTGGAGTGCAGTGGTGTGATCGTGGCTCACTACAGCCTCAA | CAGAAATGCATCAGCATGTGGTCAGGAGGAGATACACTGTCGACAATTATTCCATGATATTGATTGAATACCTAGTTTGTATTTGGCTCTGGGCTTACAATAGTGAGGGAAGAGAAACCACAGACACAGTAGCTAATAAGAAATGTTAGCCAGGCACAGTGGCTCATGCCTGTAATCCCAGCACTTTAGGAGGAGGCCAAGGCGGGTGGATCACGAGGTCAGGAGTTTGAGACCAGCCTGGACAACATGGTGAAACCCTGTCTGTACTAAAAATACAAAAATCAGCCGGGCGTGGTGGCAGGCGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCTTGAAACCAGAAGGCGGAGGTTGCAGTGAGCCGAAATCACGCCATCGCACTTCAGCCTGGGTGACAGAGCGAGACTCCATCTCAAAAAAAAAAAGAAATGTTAAATATCTTCACATAATAGAATGTTTAATGGCTAGTTTATTCACCATTGAGTCCCAGCATCTAGTCCAGTACCTGACATAAAGTAGGTACTTGATAAATATTTGTGGGGAAGTGAGTAGATGCTAAAATTGAACATGTAGAAAGTATTACGGGAGCGCCAACGAGAACAATGGATTCTGTCTGGAGGCACCAGGAGGTAGTAATGTGTGAACTGGGCATTGAAGGATGAATGAAGTCTATCAAGAAGTCAAGGATGAGAGGATGGGGAAGGCATTTCAGGTAGAAGAAACAGCACAAGCAGAAGGACAGAGACTTAGAAGTTCATAGCATATTTGGAAAGAATAAATGTGAAGTTAGAAAGTTGAGACCCATATAAAATAACTACCACATAAAATAGTAGTTAAGACTATGGCTTTGGATTCAGACAGAACTAGCTCTACCACTTAATAGCTGTATGACTTTTACTTAACTTCTCTAAGACACAGCTTCCTCATTTGAGAAATGAGGCTAATAATGGTGCCTACTTCATAAGGTTGTTGAAAGCCAGGTGTAGTGGCACACACCTGTAGTCCTAGCTGCTTGGGAGGCTAAGGTGGGAAGACTGCTTAAGCCCAGGAGTTTGAGGCTGCAGCGAGCCATGATCGCACCACTGCACTCCAGCCTAGGTGACAGAGCAAGACCCAGTCGCTTAAAAATAATAAGACTGTTGAGAGGGTTAAATGAAACGATGCATGCAGTTTCTGATGTGGTCCCTGGCATATACTGCATGCTCAGTATCCAGGAGTTCTTGGGTACCCCCTTTCTGGCCGGAGCACAGCAATGGGAAGGGTGATAGGAAACAAGTTGGGAACTAGATCAGAGAGGCCTTCCAGGCCTCATTCAGGGAAATGGGCTTGTGTGGCAGCTCCAGCAGCTTGGAAGATGGATTAGAGGGTGGAAAGCTGAGATCAAGGAGCTTGTTTCCCCTCTGTGTGTCCACAGAGCACATCCTGCCCTGCATTTGGAAACCAGGCTTCAGCAGCCCAGATATGGGTGTCCCCGTCCCCTCCCACACTGACCTCTACCACTGTCCCAGTATCTCTCTAGAAGTGCCTGGTGTGGAAGAAATGTTTGCTGAATGAATAATAAAAACATCAACTGCCACTTATTCCTCAGTAGCACTTACCAGGTTCTGTAACTCATTATCTCACTTGATTTTCACCACATACCATGAAAGTATCACCATTCTGCAAGCGGGAAACCTGAGATTCAGAAAGGTTAGTCAACTTTCCCAAGGTCAGGCAGCTTGAAAGCCTGAGGGCAAAGCCTTTATTGGTGCAGGAATGAATGAATGTGCACCAGCAATAAGGCAAGAAGAGGGTCAGTGGAGAGGTCTTCAGACCCTGAGCCTAGAATGAGCCATCCTCTCCCTGCAGCTGGTGGTAGGGGACCTTGGCCCTGGTGGGCAGCAGCCCCGCCTGAAGGTGCTCAAAGGACCACTGGTGATGACCGAAAGCCCGCTACCTGCTCTGCCAGCTGCTGCTGCCACCTTCCTCATGGAGCAACATGAGCCCCGGACCCCAGCTCTGGCACTTGCTTCAGGCCCTTGTGTCTATGTGTATTAAGAATCTCAGACCCTACTTCAAGTTCAGCCTGCCCCAATTGCCTCCAAATCCTCTGGAACAAGACCTTTGGAACCAGGCCAAAGAGGTAAATAAATAACATGGGAGTTGGGAACCAGAAGGCAAAGATGGCAGCCACTGGGTGAAGAGGGCTGGGCTCCTGGGAAGAACGTGGGCTGGTGGCAGGAGGTCAGCTATAGTCCATCTCTGACAGCAGCAGTGATGGCACTTTTTTTTTTTTTGAGACGGAGTTTCACTCTTGTTGCCCAGACTGGAGTGCAATGACGTGATCTTGGTTCACTGCAGCCTCTGGCTCCCGGGTTAAAGCAATTCTTCTGTCTCATCCTCCTGAGTAGCTGGGATTGCAGGCACCAGCAACCACGCCTGGCGAATTTTTTGTATGTGTTAGTAGAGACAAGGTTTTACTATGTTGGCCAGGCTGGTCTTGAACTCCTGGCCTCATATGATCTACCCACCTCGGCCTCCCAAAGTGTTGGGATTACAGGCATGAACCACCGTGCCCAGCCTAGTGATGGCACTTCTGGACAAGGTGTTGTGCTTGGCTACTCAGCATGGCTCCCAGAGAGGCACTGAGCCAGTTCTCTTGGAGAGTGGAACCCAGAAAATTTCTCTGCACTAGCCACATCCCTGCCCAAATTTGAGGAAGATGAAACCAAAGAAGGTAGGGGCCTGTCAGAGAAGAAGGAGGACTGGAAACACCAAGAGAGGAGGGGAATTTGGGGAGGCATGGATTTGGGGAGGGATGATGTACATGGCCATGAGACTGGATTCAGATAAAGGACGTGAGCTTGGTGCTCAGTGCAGAGGTAGGCTGGCAGGGAGGCAGAGACCAAGAGGTACCCCTAGAAGTGTGGAGCTGTCTGGGGGTGTAGACATTGGGTTTCCTGCCTGGCTTGAGCTCACAGGCTCTCTTCCCACATTGTCACAGGACCGAATCGACCCCTTAACCCTGAAGGAGATGCTGGAGAGCATCCGGTGAGAGGCTGCCTTCCCCTTCATACCCCCCTCACTCCTTCATCCCATCTGAGCCCCAGGGCCCCATTCTTCCATTCGGCTGCCATGCTGGCCCCTTTCCTTGCAGGGAGACGGCAGAGGAGCCTTTGTCCATCCAGTCACTCAGGTAAGGACCCTGTGGAGGGCCAGGGTTTGGGAGGCTCCAGGGAGAGGAAGCAGCCGCCAGAATGTGCCAGAATGATGGAGGAGGGCAGCGAGGCCGGGGCCTGCAGATGCCAGTTCTCTGTGTGTCTAGGTTTCTGCAGCTGGAGCTAAGTGAAATGGAGGCATTTGTAAACCAACACAAGTCCAACTCCATCAAGCGGCAGGTAATACCCCCTTCTCTTTTTATTTCCCTGTAAAAAAATTTACATTTTTTTAAAAGACCACTTAACATCAGTGGTAAATTCTATAAGCAAACCCAACCAGTATCTCTTTGCTATATCCCTTCCAGCCATGCCATGTGTGTGTAGTCATAAAGCTGCAGTGACTTCCACATTCCAGTTAGTAGTGACAGCTTTTTTTTTTTTTTTTTTTTTTTGAGACAGTCTTGCTCTGTCACCCAGGCTGGAGTACAGTGGCACAATCTCAGCTCACTACAACCTCTGTTTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTATAGGCATGCACCAACACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGTCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCGCCTACCTTGACCTCCCAAAGTGCTCAGATTACAGGTGTGAGCCATCGTGCCATGCCAACCACTCACATTTTTGAGTTATCATTAACATTTGGGATGGGAATAGTTACCACTAATATTTGTCCACATTTTTGTAAGCTTTCGCCTTCCATTAGGCACTGAAAATCATTCCTCTTTTTTAATCTCTTTTGGGGAAGGGTAGGGAGCTGGGTCTTCCTCCGTCACCCAGGCTGGAGTGCAGTGGTGTGATCGTGGCTCACTACAGCCTCA | pathogenic | 178,853 |
Variant at chromosome position 66519617, chromosome 11, gene BBS1 (Bardet-Biedl syndrome 1): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Bardet-Biedl_syndrome', 'Bardet-Biedl_syndrome_1'] | GCTATTCTCCTGCCTCAGCCTCCCAAGTAGCTGAGACTACAGGCGCACACCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGATGGTGTTTCACCATGCTGGCCAGGATGGTCTCGATCTCTTGACCTCGTGATCTGCCTGCCTCAGCCTCCCAAAATGCTGGGATTACAGGTGTGAGCCACCACGCCCATCTTATTTATTTATTTATTTTTTTAAGAGATGGGGTCTCACCATGTTGCCCAGACTGGTCTCAAACTCCTGATCTAAAGTGATCCTCCCACCTGGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCTTATTTAGCCTATATTCATATATTTTTAAAACTAGGATTATACTAACGTCACTTTTTTTTTTCTTTTCTTTTTTTTTTTTGAGATGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCGCAATCTCAGCTCATCGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCGCAGCCTCCCGAGTAGATGGGATTACAGGGATGTGCCACCACGCCCGGCTAATTTTGTATTTTTAGTAGGGACAGGGTTTCTCCCTGTTGGTCAGGCTGGTCTCGAACTCCCAACCTCACGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAACCACCGCATCCGGCCTTTTCTTTTATTTATTTTTGAAACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAATGGCATGATCTCAGCTCACTGCAACCTCCATTTCCCAGGTCCAAGCAATTCTCCTGCCTCAGCCTCACAAGTAGCTGGGATTACAGGCACCCGCCATCATGCCTGGGCTAATGGTTGTATTTCTGTACAGATGAGGTTTCTTTTTTTTTTTTTTTTCTTTTCTTTCTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTACAGTGGTGCAATCTTGGCTCACTGCAGCCTCTGCTTCCCGGGTTCCAGCGATTCTCCTGCCTCAGCCTCCTGGGTAGCTGGGATTACAGGTGCATGCCACCATGCCTGGCTAATTTTCATATTTTTTGGTAGAGATGGGGTTTCACCATTTTGGCCAGGCTGGTCTTAAACTTCTGACCACTTCAGCCTCCCAGAGTGCTGGGCTTACAGGTGTGAGCCACCACGCCCAGCCCTTTTCTTTTTTTTTTTTTTTTTTAAGACAGGGTCTTACTCTGTCAGTCAGGCTGGAATGCAGTGGCAGGATCATAGCTCACTGGAGCATTGAACTCCTGGGATCAAGGGATCCTCCTGCCTCAGCCTCCTGAGTACCTGGGACTACAGATGCATGCCATCGCACCTGGCTGATTTTTTATTTTTATTTTTTGTAGAGTTGGGGTCTCACTTTGCTGCCCAAGCTGGTCTTGGACTCCTGGGCTCATGCAGTCCACCTGCCTTGGTCCCCAAAAGTGCTGGGATTACAGGCATGATCTGCTGAGCCTGGCCCAAATATTCTTTTTAAATATGACTTTTAAGAAATGACTGCAGCCGGGCATGGTGGCTCATGCATGTAATCCCAGCACTTTAGGGGGCTGAGGCGGGTGGATCACAGGTCAGGAGTTCAAGACCAACCTGGGCAACATGGTGAAACTAAAAATACAAAAAGTAGCTGGGCACGGTGGCGTGCGCCTGTAATCCCAGCTAGTTGGGAGGCTAAGGCAGGAGAATTGCTTGAACCTGCGAGGCAGAGGTTGCAGTGAGCCGAGATTGTACCACTGCACTCCTGCCTGGGCGACAGAGCGAGAACCTGTCTCAAGAAAAAAAAAAGACTGCATAGTTTTTGATCATATGGATGGCTCATAATTGACTTAGACAATCCTCTTTTGTTAGAAAGTTAGATTTGTTGCAATAAACACCTTTGTACTTAAATCTTCTGTCACATCTCTGATATTTCCTCTTCATCCTCCTTTGCCCTCTTTCTTCCCTCATGTGGCATTCTGGGAGTATCTTGGGGGTGGTGTGTGGAGGTTCCCTGGGTGACCCCTGGAGTCCTTCTGTAGACAGTCATCACCACCATGACCACCTTGAAGAAGAACCTGGCTGACGAGGATGCTGTGTCTTGCCTGGTGCTGGGCACCGAGAACAAGGAGCTCCTGGTGCTTGACCCCGAGGCCTTCACCATTTTAGCCAAGGTCAGCGTCAGGTCTGGCCCTGGGCCCGCTGGAGGCCCAGGCTGCATTCTCTCCCCATGCTCCACAGTTAGTTCTGGGTAATATATATGTTCCTTGTAGAAAAATTAGAAACTAGATAAGCATTAAAAAAGATATATATCCAAAAATCCTACCGCCTATGGATGTATACTGTTAAAGTTGAGGCATAGGTCTCTCTAGACATTTTCATATTTAGACATAGATATATAACTTTATGTAAATATTTCTCTTTATAAAAACAGGATTAGCTGGGTGTGGTGGCCCATGCCTCTAACCCTAGTGCTTTGGGAGGCCGAGGCAGGAGGATGGCTTGAGCCCAAGAGTTTCAGGCTGCAGTGAGCTATGATTGTGGCACTGCACTCCAGCCTGGGCGACAGAGTGAGACCCTGTCTCTAAAAACAATAAGTAAATAAATAAATAAAAGCAGGAGGATCATGTAACATGTTCTTTTCATGTAGCAGTATATCATCAGTGTCTTTCTATATCTATAAAACCACATCAGCCTTTTATTTTCTTTTGTTTTGTTTTTTGTTTTTGAGGCAGAATCTTGCTGTGTCACCCAGGCTGGAGTACAGTGGCTCTATCTCAGCTCACTGCAGCTTCTACCTCCCGGGTTCAAGCAGTTCTCATGCCTCAGCCACCTGAGTAGCTGGGACTGCAGGCATGTACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTATCACCCTGTTGGCCAGGCTGGTCTCAAATTCCTTACCTCAAGTGATCTCTGCATCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCTGACCCCACATCAGCCTTTTTAAAGACCACGCAATATCCATCATATTGAGGTACCATAATTTATTTACCCTGTCACCTATTGTACATTTAAACTGTTTTTCATTTTTTGCTATTAATACCAATGCTATAGACCTTTTTACCCAAATATCCTTGCATGCTTGTTTGTTTGTTTTTGAGACAATCTTGTTCTCTTGCCCAGGCTGAAGTGCAGTGGTACAATCTCAGCTTACTGCAACCTATGCCACCTGGGCTCAAACAGTCCTCTCACCTCATCTTCTCATCTGTGGGACCACCACGCCCAGCTAAGTTTTGTACTTTTGGTAGAGACAAAGTTTTGCCATGTTGGACAGGCTGGTCTTGAACTCCTGAGCTCAAGCGATCCACCCGCCTCAGCCTCTCAAAGTGTTGGGATTACAGGTGTGGGCCACCACACCCAGCTGCACGGTTGTTTAAGTACATCCTTAGGATGCAGTCCTAGAAGTGGCATCGTTTAGTCAAAAGGCACAGACTAAAAGGCTTTTGCTAAATGTTGCCCCAAGTTTCCCTCCTGAAAAACTGTATGAGTTTAAACTGGGTGTAAGTGAGGAGATTGGGACTTTAGACCAGGCACTCACTCAGAGGAGTTACTGACAGGGCAGGGAGGGACGGGGGCTCCAGAGAAATTGGAGTGTTTGCGCTTCTTGTTTGCAGATGAGCCTTCCCAGCGTCCCCGTCTTCCTAGAGGTTTCTGGCCAGTTTGATGTTGAGTTCCGGCTTGCCGCGGCCTGCCGCAATGGAAACATCTATATTCTGAGAAGGTAGCCACATCCGTGGTCTCCGGGGCCGGGAGGAACATCTCAGAAAACTGGTGGCTTCAGAGGCTTGCAAGATGAGAGTGGGCTTTAAGGCTGGAATTTGGAAATGCAAAGAGCTGAGAACTTCATAAAGGAGGCTGAGCCCACAAACACAGGGGAGGATACCTGGAGGCTTGTGAGATAGGGGCTGGCACAGTGAGAGACTAGGCTGGGTGGCTATAGTACAGGAGTGATCAGAAATGAGAGGACAGGCTGGGCGCTGTGGCTCACGCCTGTAATCCCAGCACTTTG | GCTATTCTCCTGCCTCAGCCTCCCAAGTAGCTGAGACTACAGGCGCACACCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGATGGTGTTTCACCATGCTGGCCAGGATGGTCTCGATCTCTTGACCTCGTGATCTGCCTGCCTCAGCCTCCCAAAATGCTGGGATTACAGGTGTGAGCCACCACGCCCATCTTATTTATTTATTTATTTTTTTAAGAGATGGGGTCTCACCATGTTGCCCAGACTGGTCTCAAACTCCTGATCTAAAGTGATCCTCCCACCTGGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCTTATTTAGCCTATATTCATATATTTTTAAAACTAGGATTATACTAACGTCACTTTTTTTTTTCTTTTCTTTTTTTTTTTTGAGATGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCGCAATCTCAGCTCATCGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCGCAGCCTCCCGAGTAGATGGGATTACAGGGATGTGCCACCACGCCCGGCTAATTTTGTATTTTTAGTAGGGACAGGGTTTCTCCCTGTTGGTCAGGCTGGTCTCGAACTCCCAACCTCACGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAACCACCGCATCCGGCCTTTTCTTTTATTTATTTTTGAAACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAATGGCATGATCTCAGCTCACTGCAACCTCCATTTCCCAGGTCCAAGCAATTCTCCTGCCTCAGCCTCACAAGTAGCTGGGATTACAGGCACCCGCCATCATGCCTGGGCTAATGGTTGTATTTCTGTACAGATGAGGTTTCTTTTTTTTTTTTTTTTCTTTTCTTTCTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTACAGTGGTGCAATCTTGGCTCACTGCAGCCTCTGCTTCCCGGGTTCCAGCGATTCTCCTGCCTCAGCCTCCTGGGTAGCTGGGATTACAGGTGCATGCCACCATGCCTGGCTAATTTTCATATTTTTTGGTAGAGATGGGGTTTCACCATTTTGGCCAGGCTGGTCTTAAACTTCTGACCACTTCAGCCTCCCAGAGTGCTGGGCTTACAGGTGTGAGCCACCACGCCCAGCCCTTTTCTTTTTTTTTTTTTTTTTTAAGACAGGGTCTTACTCTGTCAGTCAGGCTGGAATGCAGTGGCAGGATCATAGCTCACTGGAGCATTGAACTCCTGGGATCAAGGGATCCTCCTGCCTCAGCCTCCTGAGTACCTGGGACTACAGATGCATGCCATCGCACCTGGCTGATTTTTTATTTTTATTTTTTGTAGAGTTGGGGTCTCACTTTGCTGCCCAAGCTGGTCTTGGACTCCTGGGCTCATGCAGTCCACCTGCCTTGGTCCCCAAAAGTGCTGGGATTACAGGCATGATCTGCTGAGCCTGGCCCAAATATTCTTTTTAAATATGACTTTTAAGAAATGACTGCAGCCGGGCATGGTGGCTCATGCATGTAATCCCAGCACTTTAGGGGGCTGAGGCGGGTGGATCACAGGTCAGGAGTTCAAGACCAACCTGGGCAACATGGTGAAACTAAAAATACAAAAAGTAGCTGGGCACGGTGGCGTGCGCCTGTAATCCCAGCTAGTTGGGAGGCTAAGGCAGGAGAATTGCTTGAACCTGCGAGGCAGAGGTTGCAGTGAGCCGAGATTGTACCACTGCACTCCTGCCTGGGCGACAGAGCGAGAACCTGTCTCAAGAAAAAAAAAAGACTGCATAGTTTTTGATCATATGGATGGCTCATAATTGACTTAGACAATCCTCTTTTGTTAGAAAGTTAGATTTGTTGCAATAAACACCTTTGTACTTAAATCTTCTGTCACATCTCTGATATTTCCTCTTCATCCTCCTTTGCCCTCTTTCTTCCCTCATGTGGCATTCTGGGAGTATCTTGGGGGTGGTGTGTGGAGGTTCCCTGGGTGACCCCTGGAGTCCTTCTGTAGACATCACCACCATGACCACCTTGAAGAAGAACCTGGCTGACGAGGATGCTGTGTCTTGCCTGGTGCTGGGCACCGAGAACAAGGAGCTCCTGGTGCTTGACCCCGAGGCCTTCACCATTTTAGCCAAGGTCAGCGTCAGGTCTGGCCCTGGGCCCGCTGGAGGCCCAGGCTGCATTCTCTCCCCATGCTCCACAGTTAGTTCTGGGTAATATATATGTTCCTTGTAGAAAAATTAGAAACTAGATAAGCATTAAAAAAGATATATATCCAAAAATCCTACCGCCTATGGATGTATACTGTTAAAGTTGAGGCATAGGTCTCTCTAGACATTTTCATATTTAGACATAGATATATAACTTTATGTAAATATTTCTCTTTATAAAAACAGGATTAGCTGGGTGTGGTGGCCCATGCCTCTAACCCTAGTGCTTTGGGAGGCCGAGGCAGGAGGATGGCTTGAGCCCAAGAGTTTCAGGCTGCAGTGAGCTATGATTGTGGCACTGCACTCCAGCCTGGGCGACAGAGTGAGACCCTGTCTCTAAAAACAATAAGTAAATAAATAAATAAAAGCAGGAGGATCATGTAACATGTTCTTTTCATGTAGCAGTATATCATCAGTGTCTTTCTATATCTATAAAACCACATCAGCCTTTTATTTTCTTTTGTTTTGTTTTTTGTTTTTGAGGCAGAATCTTGCTGTGTCACCCAGGCTGGAGTACAGTGGCTCTATCTCAGCTCACTGCAGCTTCTACCTCCCGGGTTCAAGCAGTTCTCATGCCTCAGCCACCTGAGTAGCTGGGACTGCAGGCATGTACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTATCACCCTGTTGGCCAGGCTGGTCTCAAATTCCTTACCTCAAGTGATCTCTGCATCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCTGACCCCACATCAGCCTTTTTAAAGACCACGCAATATCCATCATATTGAGGTACCATAATTTATTTACCCTGTCACCTATTGTACATTTAAACTGTTTTTCATTTTTTGCTATTAATACCAATGCTATAGACCTTTTTACCCAAATATCCTTGCATGCTTGTTTGTTTGTTTTTGAGACAATCTTGTTCTCTTGCCCAGGCTGAAGTGCAGTGGTACAATCTCAGCTTACTGCAACCTATGCCACCTGGGCTCAAACAGTCCTCTCACCTCATCTTCTCATCTGTGGGACCACCACGCCCAGCTAAGTTTTGTACTTTTGGTAGAGACAAAGTTTTGCCATGTTGGACAGGCTGGTCTTGAACTCCTGAGCTCAAGCGATCCACCCGCCTCAGCCTCTCAAAGTGTTGGGATTACAGGTGTGGGCCACCACACCCAGCTGCACGGTTGTTTAAGTACATCCTTAGGATGCAGTCCTAGAAGTGGCATCGTTTAGTCAAAAGGCACAGACTAAAAGGCTTTTGCTAAATGTTGCCCCAAGTTTCCCTCCTGAAAAACTGTATGAGTTTAAACTGGGTGTAAGTGAGGAGATTGGGACTTTAGACCAGGCACTCACTCAGAGGAGTTACTGACAGGGCAGGGAGGGACGGGGGCTCCAGAGAAATTGGAGTGTTTGCGCTTCTTGTTTGCAGATGAGCCTTCCCAGCGTCCCCGTCTTCCTAGAGGTTTCTGGCCAGTTTGATGTTGAGTTCCGGCTTGCCGCGGCCTGCCGCAATGGAAACATCTATATTCTGAGAAGGTAGCCACATCCGTGGTCTCCGGGGCCGGGAGGAACATCTCAGAAAACTGGTGGCTTCAGAGGCTTGCAAGATGAGAGTGGGCTTTAAGGCTGGAATTTGGAAATGCAAAGAGCTGAGAACTTCATAAAGGAGGCTGAGCCCACAAACACAGGGGAGGATACCTGGAGGCTTGTGAGATAGGGGCTGGCACAGTGAGAGACTAGGCTGGGTGGCTATAGTACAGGAGTGATCAGAAATGAGAGGACAGGCTGGGCGCTGTGGCTCACGCCTGTAATCCCAGCACTTTGNNNN | pathogenic | 178,869 |
Mutation at chromosome 11, position 66519631, within BBS1 (Bardet-Biedl syndrome 1): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Bardet-Biedl_syndrome', 'Bardet-Biedl_syndrome_1'] | TCAGCCTCCCAAGTAGCTGAGACTACAGGCGCACACCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGATGGTGTTTCACCATGCTGGCCAGGATGGTCTCGATCTCTTGACCTCGTGATCTGCCTGCCTCAGCCTCCCAAAATGCTGGGATTACAGGTGTGAGCCACCACGCCCATCTTATTTATTTATTTATTTTTTTAAGAGATGGGGTCTCACCATGTTGCCCAGACTGGTCTCAAACTCCTGATCTAAAGTGATCCTCCCACCTGGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCTTATTTAGCCTATATTCATATATTTTTAAAACTAGGATTATACTAACGTCACTTTTTTTTTTCTTTTCTTTTTTTTTTTTGAGATGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCGCAATCTCAGCTCATCGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCGCAGCCTCCCGAGTAGATGGGATTACAGGGATGTGCCACCACGCCCGGCTAATTTTGTATTTTTAGTAGGGACAGGGTTTCTCCCTGTTGGTCAGGCTGGTCTCGAACTCCCAACCTCACGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAACCACCGCATCCGGCCTTTTCTTTTATTTATTTTTGAAACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAATGGCATGATCTCAGCTCACTGCAACCTCCATTTCCCAGGTCCAAGCAATTCTCCTGCCTCAGCCTCACAAGTAGCTGGGATTACAGGCACCCGCCATCATGCCTGGGCTAATGGTTGTATTTCTGTACAGATGAGGTTTCTTTTTTTTTTTTTTTTCTTTTCTTTCTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTACAGTGGTGCAATCTTGGCTCACTGCAGCCTCTGCTTCCCGGGTTCCAGCGATTCTCCTGCCTCAGCCTCCTGGGTAGCTGGGATTACAGGTGCATGCCACCATGCCTGGCTAATTTTCATATTTTTTGGTAGAGATGGGGTTTCACCATTTTGGCCAGGCTGGTCTTAAACTTCTGACCACTTCAGCCTCCCAGAGTGCTGGGCTTACAGGTGTGAGCCACCACGCCCAGCCCTTTTCTTTTTTTTTTTTTTTTTTAAGACAGGGTCTTACTCTGTCAGTCAGGCTGGAATGCAGTGGCAGGATCATAGCTCACTGGAGCATTGAACTCCTGGGATCAAGGGATCCTCCTGCCTCAGCCTCCTGAGTACCTGGGACTACAGATGCATGCCATCGCACCTGGCTGATTTTTTATTTTTATTTTTTGTAGAGTTGGGGTCTCACTTTGCTGCCCAAGCTGGTCTTGGACTCCTGGGCTCATGCAGTCCACCTGCCTTGGTCCCCAAAAGTGCTGGGATTACAGGCATGATCTGCTGAGCCTGGCCCAAATATTCTTTTTAAATATGACTTTTAAGAAATGACTGCAGCCGGGCATGGTGGCTCATGCATGTAATCCCAGCACTTTAGGGGGCTGAGGCGGGTGGATCACAGGTCAGGAGTTCAAGACCAACCTGGGCAACATGGTGAAACTAAAAATACAAAAAGTAGCTGGGCACGGTGGCGTGCGCCTGTAATCCCAGCTAGTTGGGAGGCTAAGGCAGGAGAATTGCTTGAACCTGCGAGGCAGAGGTTGCAGTGAGCCGAGATTGTACCACTGCACTCCTGCCTGGGCGACAGAGCGAGAACCTGTCTCAAGAAAAAAAAAAGACTGCATAGTTTTTGATCATATGGATGGCTCATAATTGACTTAGACAATCCTCTTTTGTTAGAAAGTTAGATTTGTTGCAATAAACACCTTTGTACTTAAATCTTCTGTCACATCTCTGATATTTCCTCTTCATCCTCCTTTGCCCTCTTTCTTCCCTCATGTGGCATTCTGGGAGTATCTTGGGGGTGGTGTGTGGAGGTTCCCTGGGTGACCCCTGGAGTCCTTCTGTAGACAGTCATCACCACCATGACCACCTTGAAGAAGAACCTGGCTGACGAGGATGCTGTGTCTTGCCTGGTGCTGGGCACCGAGAACAAGGAGCTCCTGGTGCTTGACCCCGAGGCCTTCACCATTTTAGCCAAGGTCAGCGTCAGGTCTGGCCCTGGGCCCGCTGGAGGCCCAGGCTGCATTCTCTCCCCATGCTCCACAGTTAGTTCTGGGTAATATATATGTTCCTTGTAGAAAAATTAGAAACTAGATAAGCATTAAAAAAGATATATATCCAAAAATCCTACCGCCTATGGATGTATACTGTTAAAGTTGAGGCATAGGTCTCTCTAGACATTTTCATATTTAGACATAGATATATAACTTTATGTAAATATTTCTCTTTATAAAAACAGGATTAGCTGGGTGTGGTGGCCCATGCCTCTAACCCTAGTGCTTTGGGAGGCCGAGGCAGGAGGATGGCTTGAGCCCAAGAGTTTCAGGCTGCAGTGAGCTATGATTGTGGCACTGCACTCCAGCCTGGGCGACAGAGTGAGACCCTGTCTCTAAAAACAATAAGTAAATAAATAAATAAAAGCAGGAGGATCATGTAACATGTTCTTTTCATGTAGCAGTATATCATCAGTGTCTTTCTATATCTATAAAACCACATCAGCCTTTTATTTTCTTTTGTTTTGTTTTTTGTTTTTGAGGCAGAATCTTGCTGTGTCACCCAGGCTGGAGTACAGTGGCTCTATCTCAGCTCACTGCAGCTTCTACCTCCCGGGTTCAAGCAGTTCTCATGCCTCAGCCACCTGAGTAGCTGGGACTGCAGGCATGTACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTATCACCCTGTTGGCCAGGCTGGTCTCAAATTCCTTACCTCAAGTGATCTCTGCATCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCTGACCCCACATCAGCCTTTTTAAAGACCACGCAATATCCATCATATTGAGGTACCATAATTTATTTACCCTGTCACCTATTGTACATTTAAACTGTTTTTCATTTTTTGCTATTAATACCAATGCTATAGACCTTTTTACCCAAATATCCTTGCATGCTTGTTTGTTTGTTTTTGAGACAATCTTGTTCTCTTGCCCAGGCTGAAGTGCAGTGGTACAATCTCAGCTTACTGCAACCTATGCCACCTGGGCTCAAACAGTCCTCTCACCTCATCTTCTCATCTGTGGGACCACCACGCCCAGCTAAGTTTTGTACTTTTGGTAGAGACAAAGTTTTGCCATGTTGGACAGGCTGGTCTTGAACTCCTGAGCTCAAGCGATCCACCCGCCTCAGCCTCTCAAAGTGTTGGGATTACAGGTGTGGGCCACCACACCCAGCTGCACGGTTGTTTAAGTACATCCTTAGGATGCAGTCCTAGAAGTGGCATCGTTTAGTCAAAAGGCACAGACTAAAAGGCTTTTGCTAAATGTTGCCCCAAGTTTCCCTCCTGAAAAACTGTATGAGTTTAAACTGGGTGTAAGTGAGGAGATTGGGACTTTAGACCAGGCACTCACTCAGAGGAGTTACTGACAGGGCAGGGAGGGACGGGGGCTCCAGAGAAATTGGAGTGTTTGCGCTTCTTGTTTGCAGATGAGCCTTCCCAGCGTCCCCGTCTTCCTAGAGGTTTCTGGCCAGTTTGATGTTGAGTTCCGGCTTGCCGCGGCCTGCCGCAATGGAAACATCTATATTCTGAGAAGGTAGCCACATCCGTGGTCTCCGGGGCCGGGAGGAACATCTCAGAAAACTGGTGGCTTCAGAGGCTTGCAAGATGAGAGTGGGCTTTAAGGCTGGAATTTGGAAATGCAAAGAGCTGAGAACTTCATAAAGGAGGCTGAGCCCACAAACACAGGGGAGGATACCTGGAGGCTTGTGAGATAGGGGCTGGCACAGTGAGAGACTAGGCTGGGTGGCTATAGTACAGGAGTGATCAGAAATGAGAGGACAGGCTGGGCGCTGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAA | TCAGCCTCCCAAGTAGCTGAGACTACAGGCGCACACCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGATGGTGTTTCACCATGCTGGCCAGGATGGTCTCGATCTCTTGACCTCGTGATCTGCCTGCCTCAGCCTCCCAAAATGCTGGGATTACAGGTGTGAGCCACCACGCCCATCTTATTTATTTATTTATTTTTTTAAGAGATGGGGTCTCACCATGTTGCCCAGACTGGTCTCAAACTCCTGATCTAAAGTGATCCTCCCACCTGGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCTTATTTAGCCTATATTCATATATTTTTAAAACTAGGATTATACTAACGTCACTTTTTTTTTTCTTTTCTTTTTTTTTTTTGAGATGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCGCAATCTCAGCTCATCGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCGCAGCCTCCCGAGTAGATGGGATTACAGGGATGTGCCACCACGCCCGGCTAATTTTGTATTTTTAGTAGGGACAGGGTTTCTCCCTGTTGGTCAGGCTGGTCTCGAACTCCCAACCTCACGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAACCACCGCATCCGGCCTTTTCTTTTATTTATTTTTGAAACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAATGGCATGATCTCAGCTCACTGCAACCTCCATTTCCCAGGTCCAAGCAATTCTCCTGCCTCAGCCTCACAAGTAGCTGGGATTACAGGCACCCGCCATCATGCCTGGGCTAATGGTTGTATTTCTGTACAGATGAGGTTTCTTTTTTTTTTTTTTTTCTTTTCTTTCTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTACAGTGGTGCAATCTTGGCTCACTGCAGCCTCTGCTTCCCGGGTTCCAGCGATTCTCCTGCCTCAGCCTCCTGGGTAGCTGGGATTACAGGTGCATGCCACCATGCCTGGCTAATTTTCATATTTTTTGGTAGAGATGGGGTTTCACCATTTTGGCCAGGCTGGTCTTAAACTTCTGACCACTTCAGCCTCCCAGAGTGCTGGGCTTACAGGTGTGAGCCACCACGCCCAGCCCTTTTCTTTTTTTTTTTTTTTTTTAAGACAGGGTCTTACTCTGTCAGTCAGGCTGGAATGCAGTGGCAGGATCATAGCTCACTGGAGCATTGAACTCCTGGGATCAAGGGATCCTCCTGCCTCAGCCTCCTGAGTACCTGGGACTACAGATGCATGCCATCGCACCTGGCTGATTTTTTATTTTTATTTTTTGTAGAGTTGGGGTCTCACTTTGCTGCCCAAGCTGGTCTTGGACTCCTGGGCTCATGCAGTCCACCTGCCTTGGTCCCCAAAAGTGCTGGGATTACAGGCATGATCTGCTGAGCCTGGCCCAAATATTCTTTTTAAATATGACTTTTAAGAAATGACTGCAGCCGGGCATGGTGGCTCATGCATGTAATCCCAGCACTTTAGGGGGCTGAGGCGGGTGGATCACAGGTCAGGAGTTCAAGACCAACCTGGGCAACATGGTGAAACTAAAAATACAAAAAGTAGCTGGGCACGGTGGCGTGCGCCTGTAATCCCAGCTAGTTGGGAGGCTAAGGCAGGAGAATTGCTTGAACCTGCGAGGCAGAGGTTGCAGTGAGCCGAGATTGTACCACTGCACTCCTGCCTGGGCGACAGAGCGAGAACCTGTCTCAAGAAAAAAAAAAGACTGCATAGTTTTTGATCATATGGATGGCTCATAATTGACTTAGACAATCCTCTTTTGTTAGAAAGTTAGATTTGTTGCAATAAACACCTTTGTACTTAAATCTTCTGTCACATCTCTGATATTTCCTCTTCATCCTCCTTTGCCCTCTTTCTTCCCTCATGTGGCATTCTGGGAGTATCTTGGGGGTGGTGTGTGGAGGTTCCCTGGGTGACCCCTGGAGTCCTTCTGTAGACAGTCATCACCACCTGACCACCTTGAAGAAGAACCTGGCTGACGAGGATGCTGTGTCTTGCCTGGTGCTGGGCACCGAGAACAAGGAGCTCCTGGTGCTTGACCCCGAGGCCTTCACCATTTTAGCCAAGGTCAGCGTCAGGTCTGGCCCTGGGCCCGCTGGAGGCCCAGGCTGCATTCTCTCCCCATGCTCCACAGTTAGTTCTGGGTAATATATATGTTCCTTGTAGAAAAATTAGAAACTAGATAAGCATTAAAAAAGATATATATCCAAAAATCCTACCGCCTATGGATGTATACTGTTAAAGTTGAGGCATAGGTCTCTCTAGACATTTTCATATTTAGACATAGATATATAACTTTATGTAAATATTTCTCTTTATAAAAACAGGATTAGCTGGGTGTGGTGGCCCATGCCTCTAACCCTAGTGCTTTGGGAGGCCGAGGCAGGAGGATGGCTTGAGCCCAAGAGTTTCAGGCTGCAGTGAGCTATGATTGTGGCACTGCACTCCAGCCTGGGCGACAGAGTGAGACCCTGTCTCTAAAAACAATAAGTAAATAAATAAATAAAAGCAGGAGGATCATGTAACATGTTCTTTTCATGTAGCAGTATATCATCAGTGTCTTTCTATATCTATAAAACCACATCAGCCTTTTATTTTCTTTTGTTTTGTTTTTTGTTTTTGAGGCAGAATCTTGCTGTGTCACCCAGGCTGGAGTACAGTGGCTCTATCTCAGCTCACTGCAGCTTCTACCTCCCGGGTTCAAGCAGTTCTCATGCCTCAGCCACCTGAGTAGCTGGGACTGCAGGCATGTACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTATCACCCTGTTGGCCAGGCTGGTCTCAAATTCCTTACCTCAAGTGATCTCTGCATCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCTGACCCCACATCAGCCTTTTTAAAGACCACGCAATATCCATCATATTGAGGTACCATAATTTATTTACCCTGTCACCTATTGTACATTTAAACTGTTTTTCATTTTTTGCTATTAATACCAATGCTATAGACCTTTTTACCCAAATATCCTTGCATGCTTGTTTGTTTGTTTTTGAGACAATCTTGTTCTCTTGCCCAGGCTGAAGTGCAGTGGTACAATCTCAGCTTACTGCAACCTATGCCACCTGGGCTCAAACAGTCCTCTCACCTCATCTTCTCATCTGTGGGACCACCACGCCCAGCTAAGTTTTGTACTTTTGGTAGAGACAAAGTTTTGCCATGTTGGACAGGCTGGTCTTGAACTCCTGAGCTCAAGCGATCCACCCGCCTCAGCCTCTCAAAGTGTTGGGATTACAGGTGTGGGCCACCACACCCAGCTGCACGGTTGTTTAAGTACATCCTTAGGATGCAGTCCTAGAAGTGGCATCGTTTAGTCAAAAGGCACAGACTAAAAGGCTTTTGCTAAATGTTGCCCCAAGTTTCCCTCCTGAAAAACTGTATGAGTTTAAACTGGGTGTAAGTGAGGAGATTGGGACTTTAGACCAGGCACTCACTCAGAGGAGTTACTGACAGGGCAGGGAGGGACGGGGGCTCCAGAGAAATTGGAGTGTTTGCGCTTCTTGTTTGCAGATGAGCCTTCCCAGCGTCCCCGTCTTCCTAGAGGTTTCTGGCCAGTTTGATGTTGAGTTCCGGCTTGCCGCGGCCTGCCGCAATGGAAACATCTATATTCTGAGAAGGTAGCCACATCCGTGGTCTCCGGGGCCGGGAGGAACATCTCAGAAAACTGGTGGCTTCAGAGGCTTGCAAGATGAGAGTGGGCTTTAAGGCTGGAATTTGGAAATGCAAAGAGCTGAGAACTTCATAAAGGAGGCTGAGCCCACAAACACAGGGGAGGATACCTGGAGGCTTGTGAGATAGGGGCTGGCACAGTGAGAGACTAGGCTGGGTGGCTATAGTACAGGAGTGATCAGAAATGAGAGGACAGGCTGGGCGCTGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAAN | pathogenic | 178,871 |
Subsets and Splits
No community queries yet
The top public SQL queries from the community will appear here once available.