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