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 |
|---|---|---|---|---|---|
Regarding the variant found on chromosome 19 at position 1222965 in gene STK11 (serine/threonine kinase 11): is it benign or pathogenic? If pathogenic, identify the disease(s). | benign | GCCCGTCAGGGATCTTCACAGAGTGGCACGGCCGACCCTCCTCCCAGAGCCCCACAGGGAAGCTGGGCGGGTGACAGCAGCTCCAGGCCCCTTCCCCGGGTGGGTCCAGAGGACACTCCCCTCCTACCCCGTAGCCTCCACTAGTGGAAGGTGGTGAAGACAGAGGTGTCCTTGAGTCCACAGGGCCTCTGGTCCAGCAGCCACGGGACGCCTCTGTCCCTGGGGTAGAGCTGGGGCTCCTAGGGCGTCAACCACCTTGACTGACCACGCCTTTCTTCCCTCCCCTCGAAATGAAGCTACAACATCACCACGGGTCTGTACCCCTTCGAAGGGGACAACATCTACAAGTTGTTTGAGAACATCGGGAAGGGGAGCTACGCCATCCCGGGCGACTGTGGCCCCCCGCTCTCTGACCTGCTGAAAGGTGGGAGCCTCATCCCTCTGCCCGCAGCCCCAGGGAGGCGGGGCTTTTGTGCAGAAATGTAGGGTTGGGGGTGTCAGGTGGGGGGCTATTGGCCCCGAGACCCCAGCAGGCATTGAGAGGACTGAGTGGAGAGGCCGACCTCCCCGCAGGGCCTGGTTTGCCAGGTCCCTCAGCTCCACCCTGCTTCTGGGCCCTGTTCACCCTCCGAACTCCCACCCCAGAGGGCAGTGCTGCCCTGCGCCTCCCCCAGCCCCACCCTCGGGGGCTCCCTGGCTTGCAGGGTCTGTCAGGGTTGTCCTGCTGCACTTCCTACGCATGGCAGCAGGTGGCACTGGCCGTCCGTCCATCTGCCCAGTGGCCTTGGGAGAACGGAACCGCCCTGGCCGTCCAGCCCAGCCCTGTCTCCCTGCCAGCCGCGCACAGGCTGTCCCCGGCATGTCCCAGGAGTGGAGTGGCCTCTGTCAGGGAGACCGCCTGTGCGCGGGGTCCCCCTTAGGAGCGTCCAGGTATCACCCAGGGCCTGACAACAGAGGCTGGGCAGGCGGGGACGGTTGGTGGGGTCTCAGGCCTGTGCCCAGCTGACAGGCTCCTCGCCGGCTTCTCCTCAGGGATGCTTGAGTACGAACCGGCCAAGAGGTTCTCCATCCGGCAGATCCGGCAGCACAGGTGAGCGGCCCCTGGGGGCAGTGGGGCCGAGGCTGCAGGGAGGCCGGCCATGTGGGCAGCTGGTTGAGCGGGCGCTAGAGCAGGGCGTGGTGGGGGTGCCAGGCTGGGCTGGGGCCAGACCCCGTGCAGCGCCCGCAGTTCTCGGGGCCCGAGTGGGGTCTCTGGGCAGTGTCCTGTTACCGGCCAGACCCAGGCGCCTTGTCCGAACTGGGGTCTGAGTGAGGACATGCGTCCGTCCCTGCCCTAGGCATGGAGATGCGCCAGGAAGGGCACAGCTGGTCCCAAACACTGGCGAGAGCCTCTCTTTTTCCCCTCCTCCTGGGGCTCCCAGCAGCAGGGTGTGGCTGGGATCCAGCCCAGGGCCCCCAGCTCCATGACAGGGAAGACAGAGCAGCGGACGGGGTCAGCAGGCCCCACAGTGCCGCCTCCCTCACTTCGTGGGCTCTGCTCCTCTGCACCAGCCCCTGGAGGCCCTTGAGCCGTCTGCTGGAGCCCCTCCGAGCCCCGAGGCCACCCACTGAGACCGGCTCTGGGAGTGGGAGTGTCCGGACCCCTGAGGCGCTGGTGCTGATTGTGCCTTGGGGGTCTCTGCACAGCTCGGGTCATCTGGGCGCCTGGCGGGGACTGGGGCTGCCCCCCGATAGCCTCCTGGGCTGGGATGTGCTCAGGGCCCCCCAGACCCCCTTCTGGCCTTTGCTGGCTTTGCAGCCAGCATCCATCTGGTGGGTGCTGGCTTCTGAGTGCCACCTGGGACACAGGCCTCAGGGTGGAGGGGACATCTGTCAGGCTTGGAGTCAGGTCAGCCTGCCTGCTCCTAGAGGACATGGCTGAGCTTCTGTGGTCACAGCCACCCCTTGCACGGCCTGGTCCCAGCTCCTGAGTGTGTGGCAGGTACCCTGGGCCCAGAGGAGCTGGGTCGGAAAACTGGACCGCCCTGGTGCCAGCCTGACAGGCGCCACTGCTTCTGGGCGTTTGCAGCTGGTTCCGGAAGAAACATCCTCCGGCTGAAGCACCAGTGCCCATCCCACCGAGCCCAGACACCAAGGACCGGTGGCGCAGCATGACTGTGGTGCCGTACTTGGAGGACCTGCACGGCGCGGACGAGGACGAGGACCTCTTCGACATCGAGGATGACATCATCTACACTCAGGACTTCACGGTGCCCGGTGAGTCTGGCGGGGGCCCCTGCCCGGCTCTGCTGACTCGGCCAGGATGTCCCACGGGAGCAGGGTGCCTGCCTGTCTGCAACAAGGACAGCTTCTGCCCTCTGGTGGCCAATCCCACGTCCCCAAAGCCTCCAGCCCACCTGCAGGCTGCCTCCGCCCTGCGGGCCGCTGGGACATGGCTGAAAGGTGTGGGGTCAGCGGGGGCACCAGCCCAGGCCTGTCTGGCCAGGAGGGTTCCTCAGGCGTCTCTCCGGGTGCTGCCCAGCCAGGCACCACCCACCGGCCTTGGCCTGAGTCCCAGCAGGAGCAGGCGGGGGAGCCCCAGGGTCGGGGGAGGGTAGGTGAGAGTCAGGGTGCAGGGTGGCCCCTCAGACAGCTGGCATGAGAGAGGGTCCAGTGGCCCTCCCTCCCGTCGTCCCTGAGGCCTGCCCGCTGGCCCTGATGCCGGCCGCCCTTCTTCCCTAGGTGGCGAGGAGGCGTCTGAGGCAGGGCTTAGAGCGGAGCGCGGCTTGCAGAAGAGCGAGGGCTCAGACCTTTCAGGAGAGGAAGCCTCTCGGCCGGCGCCGCAGTAGTGCCTGAGGAGGAGCTCAGGGCCTTAGCGTAGGGGCGGCCCACATTGGCAGCCAGCCCCTCCCCGCCATGCTCCCGGCTTGGCTGTGTTCGGCCCAGGGCTGGGCCGTGTCATAAAGAGTTTTGCAGTGTATCTGCAGGGTGGATGCTTGCTGCGCTCGGGCTGGAGCCTGAGGGGGCTTTCTGCTTTACTGTTTCAGCGGGAAGTGGTGGGCAGGGGCCGGCCTGAGAAGGGGGGTACGCCAGGCAGGTTGGGATGTGAGGACCCAGTGCACAGGGTCCACCCCCGGGCCCGAGGGTCCCAGAATAGTGGGGGCCCTGCAGAGAGCCCCCCATTAGGTCCCTCAGCACTCCTGGGCCCCTCATCAAACCCCTAGGCTCAGCTCAGTAGCTGGTCCCCAGGAGAGTACAGTGTGGGGGCCCCCGAGAGCACAGTGTATGGGGGTCCCCGGGGGGTACAGTGTCTGGGGGCCCCCCAGGAGGATGCAGCATGTGGGGGCCCCCCAGGAGGGTACAGCGTGTGTGGGGCCCCCAGGATCACAGGGTCTCAGCTCCTGGGCTCTTGGATTTGCAGCACCACGACCATCGCGTCTGGTCTGTTGGAACGGGAGGTGCTGCTGGGTACCCTGGTCACTAGGGTGTGCTGGGAGGTGGGGGCCCCTCATGGTGCCCATCCTTGGGGCCTGGCTGCAATTTGACCCCAGGCCCAGGGTCTTCTGCCTTTCAGAGCCCTGGTGCCCTGAGACGGGCAGCCAGGCAAATCCCAGGCAGGAGGGCCAGTTAGGGCAGGGCCAGCCCAGGCAGGTTGCGAGAGTCCCTACTGGGACGTGGACCACACGCTGACCCCCACGGCCGCCCCTGCAGGCCAGGATCCCTGAGCCAGGACCCGGCACTGGCTTCCCTCCTGGGGACCCTCAGGCCTGTGTGAGACCTGGGCTGCCCTGGGGTGAGGTGCCTGGGAGGAGAGCAGGGGCTGGGCCACCTTTTTCATGACCCTGCTAAGCCCACTGTGGGTGGTGAGGAGGAGTACCCAGCAGGGGGAAGGGCCGCCAGACCACTCGGCATGGCTGAGGCCTCAGTACTCAGTACTGGGTACTCAGGTGGACGCCCCTCCCACTGCTCAGATGCTGGGGACAGGCTCAACTTCAGGCTTCAGCGTGAGCCCCGTCCCTGACCTGCAGAGCCCCCTTGCGTTGGGGCAGGACAGCCCGGCGCCCTCGGGTCAGGCCATCCTCTGCGCTCTGCCGGGGCTGCTGCATCGGCCTCTGCG | GCCCGTCAGGGATCTTCACAGAGTGGCACGGCCGACCCTCCTCCCAGAGCCCCACAGGGAAGCTGGGCGGGTGACAGCAGCTCCAGGCCCCTTCCCCGGGTGGGTCCAGAGGACACTCCCCTCCTACCCCGTAGCCTCCACTAGTGGAAGGTGGTGAAGACAGAGGTGTCCTTGAGTCCACAGGGCCTCTGGTCCAGCAGCCACGGGACGCCTCTGTCCCTGGGGTAGAGCTGGGGCTCCTAGGGCGTCAACCACCTTGACTGACCACGCCTTTCTTCCCTCCCCTCGAAATGAAGCTACAACATCACCACGGGTCTGTACCCCTTCGAAGGGGACAACATCTACAAGTTGTTTGAGAACATCGGGAAGGGGAGCTACGCCATCCCGGGCGACTGTGGCCCCCCGCTCTCTGACCTGCTGAAAGGTGGGAGCCTCATCCCTCTGCCCGCAGCCCCAGGGAGGCGGGGCTTTTGTGCAGAAATGTAGGGTTGGGGGTGTCAGGTGGGGGGCTATTGGCCCCGAGACCCCAGCAGGCATTGAGAGGACTGAGTGGAGAGGCCGACCTCCCCGCAGGGCCTGGTTTGCCAGGTCCCTCAGCTCCACCCTGCTTCTGGGCCCTGTTCACCCTCCGAACTCCCACCCCAGAGGGCAGTGCTGCCCTGCGCCTCCCCCAGCCCCACCCTCGGGGGCTCCCTGGCTTGCAGGGTCTGTCAGGGTTGTCCTGCTGCACTTCCTACGCATGGCAGCAGGTGGCACTGGCCGTCCGTCCATCTGCCCAGTGGCCTTGGGAGAACGGAACCGCCCTGGCCGTCCAGCCCAGCCCTGTCTCCCTGCCAGCCGCGCACAGGCTGTCCCCGGCATGTCCCAGGAGTGGAGTGGCCTCTGTCAGGGAGACCGCCTGTGCGCGGGGTCCCCCTTAGGAGCGTCCAGGTATCACCCAGGGCCTGACAACAGAGGCTGGGCAGGCGGGGACGGTTGGTGGGGTCTCAGGCCTGTGCCCAGCTGACAGGCTCCTCGCCGGCTTCTCCTCAGGGATGCTTGAGTACGAACCGGCCAAGAGGTTCTCCATCCGGCAGATCCGGCAGCACAGGTGAGCGGCCCCTGGGGGCAGTGGGGCCGAGGCTGCAGGGAGGCCGGCCATGTGGGCAGCTGGTTGAGCGGGCGCTAGAGCAGGGCGTGGTGGGGGTGCCAGGCTGGGCTGGGGCCAGACCCCGTGCAGCGCCCGCAGTTCTCGGGGCCCGAGTGGGGTCTCTGGGCAGTGTCCTGTTACCGGCCAGACCCAGGCGCCTTGTCCGAACTGGGGTCTGAGTGAGGACATGCGTCCGTCCCTGCCCTAGGCATGGAGATGCGCCAGGAAGGGCACAGCTGGTCCCAAACACTGGCGAGAGCCTCTCTTTTTCCCCTCCTCCTGGGGCTCCCAGCAGCAGGGTGTGGCTGGGATCCAGCCCAGGGCCCCCAGCTCCATGACAGGGAAGACAGAGCAGCGGACGGGGTCAGCAGGCCCCACAGTGCCGCCTCCCTCACTTCGTGGGCTCTGCTCCTCTGCACCAGCCCCTGGAGGCCCTTGAGCCGTCTGCTGGAGCCCCTCCGAGCCCCGAGGCCACCCACTGAGACCGGCTCTGGGAGTGGGAGTGTCCGGACCCCTGAGGCGCTGGTGCTGATTGTGCCTTGGGGGTCTCTGCACAGCTCGGGTCATCTGGGCGCCTGGCGGGGACTGGGGCTGCCCCCCGATAGCCTCCTGGGCTGGGATGTGCTCAGGGCCCCCCAGACCCCCTTCTGGCCTTTGCTGGCTTTGCAGCCAGCATCCATCTGGTGGGTGCTGGCTTCTGAGTGCCACCTGGGACACAGGCCTCAGGGTGGAGGGGACATCTGTCAGGCTTGGAGTCAGGTCAGCCTGCCTGCTCCTAGAGGACATGGCTGAGCTTCTGTGGTCACAGCCACCCCTTGCACGGCCTGGTCCCAGCTCCTGAGTGTGTGGCAGGTACCCTGGGCCCAGAGGAGCTGGGTCGGAAAACTGGACCGCCCTGGTGCCAGCCTGACAGGCGCCACTCTGGGCGTTTGCAGCTGGTTCCGGAAGAAACATCCTCCGGCTGAAGCACCAGTGCCCATCCCACCGAGCCCAGACACCAAGGACCGGTGGCGCAGCATGACTGTGGTGCCGTACTTGGAGGACCTGCACGGCGCGGACGAGGACGAGGACCTCTTCGACATCGAGGATGACATCATCTACACTCAGGACTTCACGGTGCCCGGTGAGTCTGGCGGGGGCCCCTGCCCGGCTCTGCTGACTCGGCCAGGATGTCCCACGGGAGCAGGGTGCCTGCCTGTCTGCAACAAGGACAGCTTCTGCCCTCTGGTGGCCAATCCCACGTCCCCAAAGCCTCCAGCCCACCTGCAGGCTGCCTCCGCCCTGCGGGCCGCTGGGACATGGCTGAAAGGTGTGGGGTCAGCGGGGGCACCAGCCCAGGCCTGTCTGGCCAGGAGGGTTCCTCAGGCGTCTCTCCGGGTGCTGCCCAGCCAGGCACCACCCACCGGCCTTGGCCTGAGTCCCAGCAGGAGCAGGCGGGGGAGCCCCAGGGTCGGGGGAGGGTAGGTGAGAGTCAGGGTGCAGGGTGGCCCCTCAGACAGCTGGCATGAGAGAGGGTCCAGTGGCCCTCCCTCCCGTCGTCCCTGAGGCCTGCCCGCTGGCCCTGATGCCGGCCGCCCTTCTTCCCTAGGTGGCGAGGAGGCGTCTGAGGCAGGGCTTAGAGCGGAGCGCGGCTTGCAGAAGAGCGAGGGCTCAGACCTTTCAGGAGAGGAAGCCTCTCGGCCGGCGCCGCAGTAGTGCCTGAGGAGGAGCTCAGGGCCTTAGCGTAGGGGCGGCCCACATTGGCAGCCAGCCCCTCCCCGCCATGCTCCCGGCTTGGCTGTGTTCGGCCCAGGGCTGGGCCGTGTCATAAAGAGTTTTGCAGTGTATCTGCAGGGTGGATGCTTGCTGCGCTCGGGCTGGAGCCTGAGGGGGCTTTCTGCTTTACTGTTTCAGCGGGAAGTGGTGGGCAGGGGCCGGCCTGAGAAGGGGGGTACGCCAGGCAGGTTGGGATGTGAGGACCCAGTGCACAGGGTCCACCCCCGGGCCCGAGGGTCCCAGAATAGTGGGGGCCCTGCAGAGAGCCCCCCATTAGGTCCCTCAGCACTCCTGGGCCCCTCATCAAACCCCTAGGCTCAGCTCAGTAGCTGGTCCCCAGGAGAGTACAGTGTGGGGGCCCCCGAGAGCACAGTGTATGGGGGTCCCCGGGGGGTACAGTGTCTGGGGGCCCCCCAGGAGGATGCAGCATGTGGGGGCCCCCCAGGAGGGTACAGCGTGTGTGGGGCCCCCAGGATCACAGGGTCTCAGCTCCTGGGCTCTTGGATTTGCAGCACCACGACCATCGCGTCTGGTCTGTTGGAACGGGAGGTGCTGCTGGGTACCCTGGTCACTAGGGTGTGCTGGGAGGTGGGGGCCCCTCATGGTGCCCATCCTTGGGGCCTGGCTGCAATTTGACCCCAGGCCCAGGGTCTTCTGCCTTTCAGAGCCCTGGTGCCCTGAGACGGGCAGCCAGGCAAATCCCAGGCAGGAGGGCCAGTTAGGGCAGGGCCAGCCCAGGCAGGTTGCGAGAGTCCCTACTGGGACGTGGACCACACGCTGACCCCCACGGCCGCCCCTGCAGGCCAGGATCCCTGAGCCAGGACCCGGCACTGGCTTCCCTCCTGGGGACCCTCAGGCCTGTGTGAGACCTGGGCTGCCCTGGGGTGAGGTGCCTGGGAGGAGAGCAGGGGCTGGGCCACCTTTTTCATGACCCTGCTAAGCCCACTGTGGGTGGTGAGGAGGAGTACCCAGCAGGGGGAAGGGCCGCCAGACCACTCGGCATGGCTGAGGCCTCAGTACTCAGTACTGGGTACTCAGGTGGACGCCCCTCCCACTGCTCAGATGCTGGGGACAGGCTCAACTTCAGGCTTCAGCGTGAGCCCCGTCCCTGACCTGCAGAGCCCCCTTGCGTTGGGGCAGGACAGCCCGGCGCCCTCGGGTCAGGCCATCCTCTGCGCTCTGCCGGGGCTGCTGCATCGGCCTCTGCGNNNN | benign | 293,094 |
Located at chromosome 19 position 1222975, the variant affecting gene STK11 (serine/threonine kinase 11)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | benign | GATCTTCACAGAGTGGCACGGCCGACCCTCCTCCCAGAGCCCCACAGGGAAGCTGGGCGGGTGACAGCAGCTCCAGGCCCCTTCCCCGGGTGGGTCCAGAGGACACTCCCCTCCTACCCCGTAGCCTCCACTAGTGGAAGGTGGTGAAGACAGAGGTGTCCTTGAGTCCACAGGGCCTCTGGTCCAGCAGCCACGGGACGCCTCTGTCCCTGGGGTAGAGCTGGGGCTCCTAGGGCGTCAACCACCTTGACTGACCACGCCTTTCTTCCCTCCCCTCGAAATGAAGCTACAACATCACCACGGGTCTGTACCCCTTCGAAGGGGACAACATCTACAAGTTGTTTGAGAACATCGGGAAGGGGAGCTACGCCATCCCGGGCGACTGTGGCCCCCCGCTCTCTGACCTGCTGAAAGGTGGGAGCCTCATCCCTCTGCCCGCAGCCCCAGGGAGGCGGGGCTTTTGTGCAGAAATGTAGGGTTGGGGGTGTCAGGTGGGGGGCTATTGGCCCCGAGACCCCAGCAGGCATTGAGAGGACTGAGTGGAGAGGCCGACCTCCCCGCAGGGCCTGGTTTGCCAGGTCCCTCAGCTCCACCCTGCTTCTGGGCCCTGTTCACCCTCCGAACTCCCACCCCAGAGGGCAGTGCTGCCCTGCGCCTCCCCCAGCCCCACCCTCGGGGGCTCCCTGGCTTGCAGGGTCTGTCAGGGTTGTCCTGCTGCACTTCCTACGCATGGCAGCAGGTGGCACTGGCCGTCCGTCCATCTGCCCAGTGGCCTTGGGAGAACGGAACCGCCCTGGCCGTCCAGCCCAGCCCTGTCTCCCTGCCAGCCGCGCACAGGCTGTCCCCGGCATGTCCCAGGAGTGGAGTGGCCTCTGTCAGGGAGACCGCCTGTGCGCGGGGTCCCCCTTAGGAGCGTCCAGGTATCACCCAGGGCCTGACAACAGAGGCTGGGCAGGCGGGGACGGTTGGTGGGGTCTCAGGCCTGTGCCCAGCTGACAGGCTCCTCGCCGGCTTCTCCTCAGGGATGCTTGAGTACGAACCGGCCAAGAGGTTCTCCATCCGGCAGATCCGGCAGCACAGGTGAGCGGCCCCTGGGGGCAGTGGGGCCGAGGCTGCAGGGAGGCCGGCCATGTGGGCAGCTGGTTGAGCGGGCGCTAGAGCAGGGCGTGGTGGGGGTGCCAGGCTGGGCTGGGGCCAGACCCCGTGCAGCGCCCGCAGTTCTCGGGGCCCGAGTGGGGTCTCTGGGCAGTGTCCTGTTACCGGCCAGACCCAGGCGCCTTGTCCGAACTGGGGTCTGAGTGAGGACATGCGTCCGTCCCTGCCCTAGGCATGGAGATGCGCCAGGAAGGGCACAGCTGGTCCCAAACACTGGCGAGAGCCTCTCTTTTTCCCCTCCTCCTGGGGCTCCCAGCAGCAGGGTGTGGCTGGGATCCAGCCCAGGGCCCCCAGCTCCATGACAGGGAAGACAGAGCAGCGGACGGGGTCAGCAGGCCCCACAGTGCCGCCTCCCTCACTTCGTGGGCTCTGCTCCTCTGCACCAGCCCCTGGAGGCCCTTGAGCCGTCTGCTGGAGCCCCTCCGAGCCCCGAGGCCACCCACTGAGACCGGCTCTGGGAGTGGGAGTGTCCGGACCCCTGAGGCGCTGGTGCTGATTGTGCCTTGGGGGTCTCTGCACAGCTCGGGTCATCTGGGCGCCTGGCGGGGACTGGGGCTGCCCCCCGATAGCCTCCTGGGCTGGGATGTGCTCAGGGCCCCCCAGACCCCCTTCTGGCCTTTGCTGGCTTTGCAGCCAGCATCCATCTGGTGGGTGCTGGCTTCTGAGTGCCACCTGGGACACAGGCCTCAGGGTGGAGGGGACATCTGTCAGGCTTGGAGTCAGGTCAGCCTGCCTGCTCCTAGAGGACATGGCTGAGCTTCTGTGGTCACAGCCACCCCTTGCACGGCCTGGTCCCAGCTCCTGAGTGTGTGGCAGGTACCCTGGGCCCAGAGGAGCTGGGTCGGAAAACTGGACCGCCCTGGTGCCAGCCTGACAGGCGCCACTGCTTCTGGGCGTTTGCAGCTGGTTCCGGAAGAAACATCCTCCGGCTGAAGCACCAGTGCCCATCCCACCGAGCCCAGACACCAAGGACCGGTGGCGCAGCATGACTGTGGTGCCGTACTTGGAGGACCTGCACGGCGCGGACGAGGACGAGGACCTCTTCGACATCGAGGATGACATCATCTACACTCAGGACTTCACGGTGCCCGGTGAGTCTGGCGGGGGCCCCTGCCCGGCTCTGCTGACTCGGCCAGGATGTCCCACGGGAGCAGGGTGCCTGCCTGTCTGCAACAAGGACAGCTTCTGCCCTCTGGTGGCCAATCCCACGTCCCCAAAGCCTCCAGCCCACCTGCAGGCTGCCTCCGCCCTGCGGGCCGCTGGGACATGGCTGAAAGGTGTGGGGTCAGCGGGGGCACCAGCCCAGGCCTGTCTGGCCAGGAGGGTTCCTCAGGCGTCTCTCCGGGTGCTGCCCAGCCAGGCACCACCCACCGGCCTTGGCCTGAGTCCCAGCAGGAGCAGGCGGGGGAGCCCCAGGGTCGGGGGAGGGTAGGTGAGAGTCAGGGTGCAGGGTGGCCCCTCAGACAGCTGGCATGAGAGAGGGTCCAGTGGCCCTCCCTCCCGTCGTCCCTGAGGCCTGCCCGCTGGCCCTGATGCCGGCCGCCCTTCTTCCCTAGGTGGCGAGGAGGCGTCTGAGGCAGGGCTTAGAGCGGAGCGCGGCTTGCAGAAGAGCGAGGGCTCAGACCTTTCAGGAGAGGAAGCCTCTCGGCCGGCGCCGCAGTAGTGCCTGAGGAGGAGCTCAGGGCCTTAGCGTAGGGGCGGCCCACATTGGCAGCCAGCCCCTCCCCGCCATGCTCCCGGCTTGGCTGTGTTCGGCCCAGGGCTGGGCCGTGTCATAAAGAGTTTTGCAGTGTATCTGCAGGGTGGATGCTTGCTGCGCTCGGGCTGGAGCCTGAGGGGGCTTTCTGCTTTACTGTTTCAGCGGGAAGTGGTGGGCAGGGGCCGGCCTGAGAAGGGGGGTACGCCAGGCAGGTTGGGATGTGAGGACCCAGTGCACAGGGTCCACCCCCGGGCCCGAGGGTCCCAGAATAGTGGGGGCCCTGCAGAGAGCCCCCCATTAGGTCCCTCAGCACTCCTGGGCCCCTCATCAAACCCCTAGGCTCAGCTCAGTAGCTGGTCCCCAGGAGAGTACAGTGTGGGGGCCCCCGAGAGCACAGTGTATGGGGGTCCCCGGGGGGTACAGTGTCTGGGGGCCCCCCAGGAGGATGCAGCATGTGGGGGCCCCCCAGGAGGGTACAGCGTGTGTGGGGCCCCCAGGATCACAGGGTCTCAGCTCCTGGGCTCTTGGATTTGCAGCACCACGACCATCGCGTCTGGTCTGTTGGAACGGGAGGTGCTGCTGGGTACCCTGGTCACTAGGGTGTGCTGGGAGGTGGGGGCCCCTCATGGTGCCCATCCTTGGGGCCTGGCTGCAATTTGACCCCAGGCCCAGGGTCTTCTGCCTTTCAGAGCCCTGGTGCCCTGAGACGGGCAGCCAGGCAAATCCCAGGCAGGAGGGCCAGTTAGGGCAGGGCCAGCCCAGGCAGGTTGCGAGAGTCCCTACTGGGACGTGGACCACACGCTGACCCCCACGGCCGCCCCTGCAGGCCAGGATCCCTGAGCCAGGACCCGGCACTGGCTTCCCTCCTGGGGACCCTCAGGCCTGTGTGAGACCTGGGCTGCCCTGGGGTGAGGTGCCTGGGAGGAGAGCAGGGGCTGGGCCACCTTTTTCATGACCCTGCTAAGCCCACTGTGGGTGGTGAGGAGGAGTACCCAGCAGGGGGAAGGGCCGCCAGACCACTCGGCATGGCTGAGGCCTCAGTACTCAGTACTGGGTACTCAGGTGGACGCCCCTCCCACTGCTCAGATGCTGGGGACAGGCTCAACTTCAGGCTTCAGCGTGAGCCCCGTCCCTGACCTGCAGAGCCCCCTTGCGTTGGGGCAGGACAGCCCGGCGCCCTCGGGTCAGGCCATCCTCTGCGCTCTGCCGGGGCTGCTGCATCGGCCTCTGCGTGCCTCCACT | GATCTTCACAGAGTGGCACGGCCGACCCTCCTCCCAGAGCCCCACAGGGAAGCTGGGCGGGTGACAGCAGCTCCAGGCCCCTTCCCCGGGTGGGTCCAGAGGACACTCCCCTCCTACCCCGTAGCCTCCACTAGTGGAAGGTGGTGAAGACAGAGGTGTCCTTGAGTCCACAGGGCCTCTGGTCCAGCAGCCACGGGACGCCTCTGTCCCTGGGGTAGAGCTGGGGCTCCTAGGGCGTCAACCACCTTGACTGACCACGCCTTTCTTCCCTCCCCTCGAAATGAAGCTACAACATCACCACGGGTCTGTACCCCTTCGAAGGGGACAACATCTACAAGTTGTTTGAGAACATCGGGAAGGGGAGCTACGCCATCCCGGGCGACTGTGGCCCCCCGCTCTCTGACCTGCTGAAAGGTGGGAGCCTCATCCCTCTGCCCGCAGCCCCAGGGAGGCGGGGCTTTTGTGCAGAAATGTAGGGTTGGGGGTGTCAGGTGGGGGGCTATTGGCCCCGAGACCCCAGCAGGCATTGAGAGGACTGAGTGGAGAGGCCGACCTCCCCGCAGGGCCTGGTTTGCCAGGTCCCTCAGCTCCACCCTGCTTCTGGGCCCTGTTCACCCTCCGAACTCCCACCCCAGAGGGCAGTGCTGCCCTGCGCCTCCCCCAGCCCCACCCTCGGGGGCTCCCTGGCTTGCAGGGTCTGTCAGGGTTGTCCTGCTGCACTTCCTACGCATGGCAGCAGGTGGCACTGGCCGTCCGTCCATCTGCCCAGTGGCCTTGGGAGAACGGAACCGCCCTGGCCGTCCAGCCCAGCCCTGTCTCCCTGCCAGCCGCGCACAGGCTGTCCCCGGCATGTCCCAGGAGTGGAGTGGCCTCTGTCAGGGAGACCGCCTGTGCGCGGGGTCCCCCTTAGGAGCGTCCAGGTATCACCCAGGGCCTGACAACAGAGGCTGGGCAGGCGGGGACGGTTGGTGGGGTCTCAGGCCTGTGCCCAGCTGACAGGCTCCTCGCCGGCTTCTCCTCAGGGATGCTTGAGTACGAACCGGCCAAGAGGTTCTCCATCCGGCAGATCCGGCAGCACAGGTGAGCGGCCCCTGGGGGCAGTGGGGCCGAGGCTGCAGGGAGGCCGGCCATGTGGGCAGCTGGTTGAGCGGGCGCTAGAGCAGGGCGTGGTGGGGGTGCCAGGCTGGGCTGGGGCCAGACCCCGTGCAGCGCCCGCAGTTCTCGGGGCCCGAGTGGGGTCTCTGGGCAGTGTCCTGTTACCGGCCAGACCCAGGCGCCTTGTCCGAACTGGGGTCTGAGTGAGGACATGCGTCCGTCCCTGCCCTAGGCATGGAGATGCGCCAGGAAGGGCACAGCTGGTCCCAAACACTGGCGAGAGCCTCTCTTTTTCCCCTCCTCCTGGGGCTCCCAGCAGCAGGGTGTGGCTGGGATCCAGCCCAGGGCCCCCAGCTCCATGACAGGGAAGACAGAGCAGCGGACGGGGTCAGCAGGCCCCACAGTGCCGCCTCCCTCACTTCGTGGGCTCTGCTCCTCTGCACCAGCCCCTGGAGGCCCTTGAGCCGTCTGCTGGAGCCCCTCCGAGCCCCGAGGCCACCCACTGAGACCGGCTCTGGGAGTGGGAGTGTCCGGACCCCTGAGGCGCTGGTGCTGATTGTGCCTTGGGGGTCTCTGCACAGCTCGGGTCATCTGGGCGCCTGGCGGGGACTGGGGCTGCCCCCCGATAGCCTCCTGGGCTGGGATGTGCTCAGGGCCCCCCAGACCCCCTTCTGGCCTTTGCTGGCTTTGCAGCCAGCATCCATCTGGTGGGTGCTGGCTTCTGAGTGCCACCTGGGACACAGGCCTCAGGGTGGAGGGGACATCTGTCAGGCTTGGAGTCAGGTCAGCCTGCCTGCTCCTAGAGGACATGGCTGAGCTTCTGTGGTCACAGCCACCCCTTGCACGGCCTGGTCCCAGCTCCTGAGTGTGTGGCAGGTACCCTGGGCCCAGAGGAGCTGGGTCGGAAAACTGGACCGCCCTGGTGCCAGCCTGACAGGCGCCACTGCTTCTGGGGTTTGCAGCTGGTTCCGGAAGAAACATCCTCCGGCTGAAGCACCAGTGCCCATCCCACCGAGCCCAGACACCAAGGACCGGTGGCGCAGCATGACTGTGGTGCCGTACTTGGAGGACCTGCACGGCGCGGACGAGGACGAGGACCTCTTCGACATCGAGGATGACATCATCTACACTCAGGACTTCACGGTGCCCGGTGAGTCTGGCGGGGGCCCCTGCCCGGCTCTGCTGACTCGGCCAGGATGTCCCACGGGAGCAGGGTGCCTGCCTGTCTGCAACAAGGACAGCTTCTGCCCTCTGGTGGCCAATCCCACGTCCCCAAAGCCTCCAGCCCACCTGCAGGCTGCCTCCGCCCTGCGGGCCGCTGGGACATGGCTGAAAGGTGTGGGGTCAGCGGGGGCACCAGCCCAGGCCTGTCTGGCCAGGAGGGTTCCTCAGGCGTCTCTCCGGGTGCTGCCCAGCCAGGCACCACCCACCGGCCTTGGCCTGAGTCCCAGCAGGAGCAGGCGGGGGAGCCCCAGGGTCGGGGGAGGGTAGGTGAGAGTCAGGGTGCAGGGTGGCCCCTCAGACAGCTGGCATGAGAGAGGGTCCAGTGGCCCTCCCTCCCGTCGTCCCTGAGGCCTGCCCGCTGGCCCTGATGCCGGCCGCCCTTCTTCCCTAGGTGGCGAGGAGGCGTCTGAGGCAGGGCTTAGAGCGGAGCGCGGCTTGCAGAAGAGCGAGGGCTCAGACCTTTCAGGAGAGGAAGCCTCTCGGCCGGCGCCGCAGTAGTGCCTGAGGAGGAGCTCAGGGCCTTAGCGTAGGGGCGGCCCACATTGGCAGCCAGCCCCTCCCCGCCATGCTCCCGGCTTGGCTGTGTTCGGCCCAGGGCTGGGCCGTGTCATAAAGAGTTTTGCAGTGTATCTGCAGGGTGGATGCTTGCTGCGCTCGGGCTGGAGCCTGAGGGGGCTTTCTGCTTTACTGTTTCAGCGGGAAGTGGTGGGCAGGGGCCGGCCTGAGAAGGGGGGTACGCCAGGCAGGTTGGGATGTGAGGACCCAGTGCACAGGGTCCACCCCCGGGCCCGAGGGTCCCAGAATAGTGGGGGCCCTGCAGAGAGCCCCCCATTAGGTCCCTCAGCACTCCTGGGCCCCTCATCAAACCCCTAGGCTCAGCTCAGTAGCTGGTCCCCAGGAGAGTACAGTGTGGGGGCCCCCGAGAGCACAGTGTATGGGGGTCCCCGGGGGGTACAGTGTCTGGGGGCCCCCCAGGAGGATGCAGCATGTGGGGGCCCCCCAGGAGGGTACAGCGTGTGTGGGGCCCCCAGGATCACAGGGTCTCAGCTCCTGGGCTCTTGGATTTGCAGCACCACGACCATCGCGTCTGGTCTGTTGGAACGGGAGGTGCTGCTGGGTACCCTGGTCACTAGGGTGTGCTGGGAGGTGGGGGCCCCTCATGGTGCCCATCCTTGGGGCCTGGCTGCAATTTGACCCCAGGCCCAGGGTCTTCTGCCTTTCAGAGCCCTGGTGCCCTGAGACGGGCAGCCAGGCAAATCCCAGGCAGGAGGGCCAGTTAGGGCAGGGCCAGCCCAGGCAGGTTGCGAGAGTCCCTACTGGGACGTGGACCACACGCTGACCCCCACGGCCGCCCCTGCAGGCCAGGATCCCTGAGCCAGGACCCGGCACTGGCTTCCCTCCTGGGGACCCTCAGGCCTGTGTGAGACCTGGGCTGCCCTGGGGTGAGGTGCCTGGGAGGAGAGCAGGGGCTGGGCCACCTTTTTCATGACCCTGCTAAGCCCACTGTGGGTGGTGAGGAGGAGTACCCAGCAGGGGGAAGGGCCGCCAGACCACTCGGCATGGCTGAGGCCTCAGTACTCAGTACTGGGTACTCAGGTGGACGCCCCTCCCACTGCTCAGATGCTGGGGACAGGCTCAACTTCAGGCTTCAGCGTGAGCCCCGTCCCTGACCTGCAGAGCCCCCTTGCGTTGGGGCAGGACAGCCCGGCGCCCTCGGGTCAGGCCATCCTCTGCGCTCTGCCGGGGCTGCTGCATCGGCCTCTGCGTGCCTCCACTN | benign | 293,097 |
Gene mutation in STK11 at chromosome 19, position 1223071—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Peutz-Jeghers_syndrome'] | CAGAGGACACTCCCCTCCTACCCCGTAGCCTCCACTAGTGGAAGGTGGTGAAGACAGAGGTGTCCTTGAGTCCACAGGGCCTCTGGTCCAGCAGCCACGGGACGCCTCTGTCCCTGGGGTAGAGCTGGGGCTCCTAGGGCGTCAACCACCTTGACTGACCACGCCTTTCTTCCCTCCCCTCGAAATGAAGCTACAACATCACCACGGGTCTGTACCCCTTCGAAGGGGACAACATCTACAAGTTGTTTGAGAACATCGGGAAGGGGAGCTACGCCATCCCGGGCGACTGTGGCCCCCCGCTCTCTGACCTGCTGAAAGGTGGGAGCCTCATCCCTCTGCCCGCAGCCCCAGGGAGGCGGGGCTTTTGTGCAGAAATGTAGGGTTGGGGGTGTCAGGTGGGGGGCTATTGGCCCCGAGACCCCAGCAGGCATTGAGAGGACTGAGTGGAGAGGCCGACCTCCCCGCAGGGCCTGGTTTGCCAGGTCCCTCAGCTCCACCCTGCTTCTGGGCCCTGTTCACCCTCCGAACTCCCACCCCAGAGGGCAGTGCTGCCCTGCGCCTCCCCCAGCCCCACCCTCGGGGGCTCCCTGGCTTGCAGGGTCTGTCAGGGTTGTCCTGCTGCACTTCCTACGCATGGCAGCAGGTGGCACTGGCCGTCCGTCCATCTGCCCAGTGGCCTTGGGAGAACGGAACCGCCCTGGCCGTCCAGCCCAGCCCTGTCTCCCTGCCAGCCGCGCACAGGCTGTCCCCGGCATGTCCCAGGAGTGGAGTGGCCTCTGTCAGGGAGACCGCCTGTGCGCGGGGTCCCCCTTAGGAGCGTCCAGGTATCACCCAGGGCCTGACAACAGAGGCTGGGCAGGCGGGGACGGTTGGTGGGGTCTCAGGCCTGTGCCCAGCTGACAGGCTCCTCGCCGGCTTCTCCTCAGGGATGCTTGAGTACGAACCGGCCAAGAGGTTCTCCATCCGGCAGATCCGGCAGCACAGGTGAGCGGCCCCTGGGGGCAGTGGGGCCGAGGCTGCAGGGAGGCCGGCCATGTGGGCAGCTGGTTGAGCGGGCGCTAGAGCAGGGCGTGGTGGGGGTGCCAGGCTGGGCTGGGGCCAGACCCCGTGCAGCGCCCGCAGTTCTCGGGGCCCGAGTGGGGTCTCTGGGCAGTGTCCTGTTACCGGCCAGACCCAGGCGCCTTGTCCGAACTGGGGTCTGAGTGAGGACATGCGTCCGTCCCTGCCCTAGGCATGGAGATGCGCCAGGAAGGGCACAGCTGGTCCCAAACACTGGCGAGAGCCTCTCTTTTTCCCCTCCTCCTGGGGCTCCCAGCAGCAGGGTGTGGCTGGGATCCAGCCCAGGGCCCCCAGCTCCATGACAGGGAAGACAGAGCAGCGGACGGGGTCAGCAGGCCCCACAGTGCCGCCTCCCTCACTTCGTGGGCTCTGCTCCTCTGCACCAGCCCCTGGAGGCCCTTGAGCCGTCTGCTGGAGCCCCTCCGAGCCCCGAGGCCACCCACTGAGACCGGCTCTGGGAGTGGGAGTGTCCGGACCCCTGAGGCGCTGGTGCTGATTGTGCCTTGGGGGTCTCTGCACAGCTCGGGTCATCTGGGCGCCTGGCGGGGACTGGGGCTGCCCCCCGATAGCCTCCTGGGCTGGGATGTGCTCAGGGCCCCCCAGACCCCCTTCTGGCCTTTGCTGGCTTTGCAGCCAGCATCCATCTGGTGGGTGCTGGCTTCTGAGTGCCACCTGGGACACAGGCCTCAGGGTGGAGGGGACATCTGTCAGGCTTGGAGTCAGGTCAGCCTGCCTGCTCCTAGAGGACATGGCTGAGCTTCTGTGGTCACAGCCACCCCTTGCACGGCCTGGTCCCAGCTCCTGAGTGTGTGGCAGGTACCCTGGGCCCAGAGGAGCTGGGTCGGAAAACTGGACCGCCCTGGTGCCAGCCTGACAGGCGCCACTGCTTCTGGGCGTTTGCAGCTGGTTCCGGAAGAAACATCCTCCGGCTGAAGCACCAGTGCCCATCCCACCGAGCCCAGACACCAAGGACCGGTGGCGCAGCATGACTGTGGTGCCGTACTTGGAGGACCTGCACGGCGCGGACGAGGACGAGGACCTCTTCGACATCGAGGATGACATCATCTACACTCAGGACTTCACGGTGCCCGGTGAGTCTGGCGGGGGCCCCTGCCCGGCTCTGCTGACTCGGCCAGGATGTCCCACGGGAGCAGGGTGCCTGCCTGTCTGCAACAAGGACAGCTTCTGCCCTCTGGTGGCCAATCCCACGTCCCCAAAGCCTCCAGCCCACCTGCAGGCTGCCTCCGCCCTGCGGGCCGCTGGGACATGGCTGAAAGGTGTGGGGTCAGCGGGGGCACCAGCCCAGGCCTGTCTGGCCAGGAGGGTTCCTCAGGCGTCTCTCCGGGTGCTGCCCAGCCAGGCACCACCCACCGGCCTTGGCCTGAGTCCCAGCAGGAGCAGGCGGGGGAGCCCCAGGGTCGGGGGAGGGTAGGTGAGAGTCAGGGTGCAGGGTGGCCCCTCAGACAGCTGGCATGAGAGAGGGTCCAGTGGCCCTCCCTCCCGTCGTCCCTGAGGCCTGCCCGCTGGCCCTGATGCCGGCCGCCCTTCTTCCCTAGGTGGCGAGGAGGCGTCTGAGGCAGGGCTTAGAGCGGAGCGCGGCTTGCAGAAGAGCGAGGGCTCAGACCTTTCAGGAGAGGAAGCCTCTCGGCCGGCGCCGCAGTAGTGCCTGAGGAGGAGCTCAGGGCCTTAGCGTAGGGGCGGCCCACATTGGCAGCCAGCCCCTCCCCGCCATGCTCCCGGCTTGGCTGTGTTCGGCCCAGGGCTGGGCCGTGTCATAAAGAGTTTTGCAGTGTATCTGCAGGGTGGATGCTTGCTGCGCTCGGGCTGGAGCCTGAGGGGGCTTTCTGCTTTACTGTTTCAGCGGGAAGTGGTGGGCAGGGGCCGGCCTGAGAAGGGGGGTACGCCAGGCAGGTTGGGATGTGAGGACCCAGTGCACAGGGTCCACCCCCGGGCCCGAGGGTCCCAGAATAGTGGGGGCCCTGCAGAGAGCCCCCCATTAGGTCCCTCAGCACTCCTGGGCCCCTCATCAAACCCCTAGGCTCAGCTCAGTAGCTGGTCCCCAGGAGAGTACAGTGTGGGGGCCCCCGAGAGCACAGTGTATGGGGGTCCCCGGGGGGTACAGTGTCTGGGGGCCCCCCAGGAGGATGCAGCATGTGGGGGCCCCCCAGGAGGGTACAGCGTGTGTGGGGCCCCCAGGATCACAGGGTCTCAGCTCCTGGGCTCTTGGATTTGCAGCACCACGACCATCGCGTCTGGTCTGTTGGAACGGGAGGTGCTGCTGGGTACCCTGGTCACTAGGGTGTGCTGGGAGGTGGGGGCCCCTCATGGTGCCCATCCTTGGGGCCTGGCTGCAATTTGACCCCAGGCCCAGGGTCTTCTGCCTTTCAGAGCCCTGGTGCCCTGAGACGGGCAGCCAGGCAAATCCCAGGCAGGAGGGCCAGTTAGGGCAGGGCCAGCCCAGGCAGGTTGCGAGAGTCCCTACTGGGACGTGGACCACACGCTGACCCCCACGGCCGCCCCTGCAGGCCAGGATCCCTGAGCCAGGACCCGGCACTGGCTTCCCTCCTGGGGACCCTCAGGCCTGTGTGAGACCTGGGCTGCCCTGGGGTGAGGTGCCTGGGAGGAGAGCAGGGGCTGGGCCACCTTTTTCATGACCCTGCTAAGCCCACTGTGGGTGGTGAGGAGGAGTACCCAGCAGGGGGAAGGGCCGCCAGACCACTCGGCATGGCTGAGGCCTCAGTACTCAGTACTGGGTACTCAGGTGGACGCCCCTCCCACTGCTCAGATGCTGGGGACAGGCTCAACTTCAGGCTTCAGCGTGAGCCCCGTCCCTGACCTGCAGAGCCCCCTTGCGTTGGGGCAGGACAGCCCGGCGCCCTCGGGTCAGGCCATCCTCTGCGCTCTGCCGGGGCTGCTGCATCGGCCTCTGCGTGCCTCCACTTTGGCCTCACGTGTCCCTACCCAGGATGCGGGTCCTGCTGCCAACACCCAGATCCCAGGGAAGGGGCTTGGGCTAGATCCTGGGCACCAGTGCAGA | CAGAGGACACTCCCCTCCTACCCCGTAGCCTCCACTAGTGGAAGGTGGTGAAGACAGAGGTGTCCTTGAGTCCACAGGGCCTCTGGTCCAGCAGCCACGGGACGCCTCTGTCCCTGGGGTAGAGCTGGGGCTCCTAGGGCGTCAACCACCTTGACTGACCACGCCTTTCTTCCCTCCCCTCGAAATGAAGCTACAACATCACCACGGGTCTGTACCCCTTCGAAGGGGACAACATCTACAAGTTGTTTGAGAACATCGGGAAGGGGAGCTACGCCATCCCGGGCGACTGTGGCCCCCCGCTCTCTGACCTGCTGAAAGGTGGGAGCCTCATCCCTCTGCCCGCAGCCCCAGGGAGGCGGGGCTTTTGTGCAGAAATGTAGGGTTGGGGGTGTCAGGTGGGGGGCTATTGGCCCCGAGACCCCAGCAGGCATTGAGAGGACTGAGTGGAGAGGCCGACCTCCCCGCAGGGCCTGGTTTGCCAGGTCCCTCAGCTCCACCCTGCTTCTGGGCCCTGTTCACCCTCCGAACTCCCACCCCAGAGGGCAGTGCTGCCCTGCGCCTCCCCCAGCCCCACCCTCGGGGGCTCCCTGGCTTGCAGGGTCTGTCAGGGTTGTCCTGCTGCACTTCCTACGCATGGCAGCAGGTGGCACTGGCCGTCCGTCCATCTGCCCAGTGGCCTTGGGAGAACGGAACCGCCCTGGCCGTCCAGCCCAGCCCTGTCTCCCTGCCAGCCGCGCACAGGCTGTCCCCGGCATGTCCCAGGAGTGGAGTGGCCTCTGTCAGGGAGACCGCCTGTGCGCGGGGTCCCCCTTAGGAGCGTCCAGGTATCACCCAGGGCCTGACAACAGAGGCTGGGCAGGCGGGGACGGTTGGTGGGGTCTCAGGCCTGTGCCCAGCTGACAGGCTCCTCGCCGGCTTCTCCTCAGGGATGCTTGAGTACGAACCGGCCAAGAGGTTCTCCATCCGGCAGATCCGGCAGCACAGGTGAGCGGCCCCTGGGGGCAGTGGGGCCGAGGCTGCAGGGAGGCCGGCCATGTGGGCAGCTGGTTGAGCGGGCGCTAGAGCAGGGCGTGGTGGGGGTGCCAGGCTGGGCTGGGGCCAGACCCCGTGCAGCGCCCGCAGTTCTCGGGGCCCGAGTGGGGTCTCTGGGCAGTGTCCTGTTACCGGCCAGACCCAGGCGCCTTGTCCGAACTGGGGTCTGAGTGAGGACATGCGTCCGTCCCTGCCCTAGGCATGGAGATGCGCCAGGAAGGGCACAGCTGGTCCCAAACACTGGCGAGAGCCTCTCTTTTTCCCCTCCTCCTGGGGCTCCCAGCAGCAGGGTGTGGCTGGGATCCAGCCCAGGGCCCCCAGCTCCATGACAGGGAAGACAGAGCAGCGGACGGGGTCAGCAGGCCCCACAGTGCCGCCTCCCTCACTTCGTGGGCTCTGCTCCTCTGCACCAGCCCCTGGAGGCCCTTGAGCCGTCTGCTGGAGCCCCTCCGAGCCCCGAGGCCACCCACTGAGACCGGCTCTGGGAGTGGGAGTGTCCGGACCCCTGAGGCGCTGGTGCTGATTGTGCCTTGGGGGTCTCTGCACAGCTCGGGTCATCTGGGCGCCTGGCGGGGACTGGGGCTGCCCCCCGATAGCCTCCTGGGCTGGGATGTGCTCAGGGCCCCCCAGACCCCCTTCTGGCCTTTGCTGGCTTTGCAGCCAGCATCCATCTGGTGGGTGCTGGCTTCTGAGTGCCACCTGGGACACAGGCCTCAGGGTGGAGGGGACATCTGTCAGGCTTGGAGTCAGGTCAGCCTGCCTGCTCCTAGAGGACATGGCTGAGCTTCTGTGGTCACAGCCACCCCTTGCACGGCCTGGTCCCAGCTCCTGAGTGTGTGGCAGGTACCCTGGGCCCAGAGGAGCTGGGTCGGAAAACTGGACCGCCCTGGTGCCAGCCTGACAGGCGCCACTGCTTCTGGGCGTTTGCAGCTGGTTCCGGAAGAAACATCCTCCGGCTGAAGCACCAGTGCCCATCCCACCGAGCCCAGACACCAAGGACCGGTGGCGCAGCATGACTGGTGCCGTACTTGGAGGACCTGCACGGCGCGGACGAGGACGAGGACCTCTTCGACATCGAGGATGACATCATCTACACTCAGGACTTCACGGTGCCCGGTGAGTCTGGCGGGGGCCCCTGCCCGGCTCTGCTGACTCGGCCAGGATGTCCCACGGGAGCAGGGTGCCTGCCTGTCTGCAACAAGGACAGCTTCTGCCCTCTGGTGGCCAATCCCACGTCCCCAAAGCCTCCAGCCCACCTGCAGGCTGCCTCCGCCCTGCGGGCCGCTGGGACATGGCTGAAAGGTGTGGGGTCAGCGGGGGCACCAGCCCAGGCCTGTCTGGCCAGGAGGGTTCCTCAGGCGTCTCTCCGGGTGCTGCCCAGCCAGGCACCACCCACCGGCCTTGGCCTGAGTCCCAGCAGGAGCAGGCGGGGGAGCCCCAGGGTCGGGGGAGGGTAGGTGAGAGTCAGGGTGCAGGGTGGCCCCTCAGACAGCTGGCATGAGAGAGGGTCCAGTGGCCCTCCCTCCCGTCGTCCCTGAGGCCTGCCCGCTGGCCCTGATGCCGGCCGCCCTTCTTCCCTAGGTGGCGAGGAGGCGTCTGAGGCAGGGCTTAGAGCGGAGCGCGGCTTGCAGAAGAGCGAGGGCTCAGACCTTTCAGGAGAGGAAGCCTCTCGGCCGGCGCCGCAGTAGTGCCTGAGGAGGAGCTCAGGGCCTTAGCGTAGGGGCGGCCCACATTGGCAGCCAGCCCCTCCCCGCCATGCTCCCGGCTTGGCTGTGTTCGGCCCAGGGCTGGGCCGTGTCATAAAGAGTTTTGCAGTGTATCTGCAGGGTGGATGCTTGCTGCGCTCGGGCTGGAGCCTGAGGGGGCTTTCTGCTTTACTGTTTCAGCGGGAAGTGGTGGGCAGGGGCCGGCCTGAGAAGGGGGGTACGCCAGGCAGGTTGGGATGTGAGGACCCAGTGCACAGGGTCCACCCCCGGGCCCGAGGGTCCCAGAATAGTGGGGGCCCTGCAGAGAGCCCCCCATTAGGTCCCTCAGCACTCCTGGGCCCCTCATCAAACCCCTAGGCTCAGCTCAGTAGCTGGTCCCCAGGAGAGTACAGTGTGGGGGCCCCCGAGAGCACAGTGTATGGGGGTCCCCGGGGGGTACAGTGTCTGGGGGCCCCCCAGGAGGATGCAGCATGTGGGGGCCCCCCAGGAGGGTACAGCGTGTGTGGGGCCCCCAGGATCACAGGGTCTCAGCTCCTGGGCTCTTGGATTTGCAGCACCACGACCATCGCGTCTGGTCTGTTGGAACGGGAGGTGCTGCTGGGTACCCTGGTCACTAGGGTGTGCTGGGAGGTGGGGGCCCCTCATGGTGCCCATCCTTGGGGCCTGGCTGCAATTTGACCCCAGGCCCAGGGTCTTCTGCCTTTCAGAGCCCTGGTGCCCTGAGACGGGCAGCCAGGCAAATCCCAGGCAGGAGGGCCAGTTAGGGCAGGGCCAGCCCAGGCAGGTTGCGAGAGTCCCTACTGGGACGTGGACCACACGCTGACCCCCACGGCCGCCCCTGCAGGCCAGGATCCCTGAGCCAGGACCCGGCACTGGCTTCCCTCCTGGGGACCCTCAGGCCTGTGTGAGACCTGGGCTGCCCTGGGGTGAGGTGCCTGGGAGGAGAGCAGGGGCTGGGCCACCTTTTTCATGACCCTGCTAAGCCCACTGTGGGTGGTGAGGAGGAGTACCCAGCAGGGGGAAGGGCCGCCAGACCACTCGGCATGGCTGAGGCCTCAGTACTCAGTACTGGGTACTCAGGTGGACGCCCCTCCCACTGCTCAGATGCTGGGGACAGGCTCAACTTCAGGCTTCAGCGTGAGCCCCGTCCCTGACCTGCAGAGCCCCCTTGCGTTGGGGCAGGACAGCCCGGCGCCCTCGGGTCAGGCCATCCTCTGCGCTCTGCCGGGGCTGCTGCATCGGCCTCTGCGTGCCTCCACTTTGGCCTCACGTGTCCCTACCCAGGATGCGGGTCCTGCTGCCAACACCCAGATCCCAGGGAAGGGGCTTGGGCTAGATCCTGGGCACCAGTGCAGANN | pathogenic | 293,122 |
Considering the variant on chromosome 19, location 1390971, involving gene NDUFS7 (NADH:ubiquinone oxidoreductase core subunit S7), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Mitochondrial_complex_1_deficiency,_nuclear_type_3'] | CAACTGGGCCCGCCGGGTGAGTACTATGAGCTGTAGGCCCTCCTCGAGCGCCAGGGCCTCTCTGCACACTCACAGGCACACACATACACACACCAACGTGCAGACACGTACACACACAACACATGCATGCACACTCACATGCGCACATGTGCATGCAAGCTCACATGTATGGACAGATGTGTACACGGACCACACGCACACTCACGCACACAATGCACATATGCACACTCGCACACATGCACACTTGCACACACATGCACACACAAGCACATGTGCACACACGCTTGCACACATACACACATGCACACTTGCACTCATGCACACTCATGCGCACATATACACATGCACACGCACACTCGCACACACGTGCACATATATGCACAGTCATGCACACACATGCACACTCACACACATGCACACACGTCCTTGTGTGGACACATGCATGTGTGCCTGTTGGCATGCATGCACACAGGCACACTCACTGATGCACACACACCCCTGCGGCCGTGGAGCAGGGCGGACCCTCCCGGAGGCCCCTGTGCTGGCCTGGTGGCCTGTGGTTCCATCTGAGGATTCGGACCCTGCTGGAGATGACCCCTCCGTTTCCGTCATTCTCTTTCTGGCGTCCGTGTGTTCCTCTTGTTTCTCTTTTAAGGTGAAAGCAGTGTTTTAAGTTAAAAGGAGCGCGTGTGAAGGCAGTAGATCCTTCTCGGTACCCGTTTAAAGCCTCCCCTGCCTGTGGCGCCAGCCCCCACGCAGCCCCTGCCATCCCCCTGCAGCGTGAGCACGTGCAGCTCCCTCCAGCTCCTGCGGCACTTGCTGCGACAGCCCGGGTTCAACAATCCCCCATTGATGGACGTTCACTGTTTCCTTTTGTTTTTTGTTTCCTAAACAATGCCACGGCGAACGTCCTGCCAGGGCCGCAGTGGTCGAGACAAGGATAGTTTTTAATGCAGGATAGTTCTTTTCTTTTTCTTTTCTTTTCTTTTTTTTTTTTTTGAGACGGAGGCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCATGCTCCGCTTGCCGGGTTCTCCTGCCTCAGCCTCCTAAGTAGCTGGGACTACAGGTGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTATTTTTAGTAGAGATGGGGTTTCACCGTGTTGGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCCGGCTAATGCAGGATAGTTTCTAATGGAGGGAACCTGAGACATGGCCAGCGGCCGTCCCAACACAGGCTTCTGGCGGGCAGGTGGACCTGGCCATTTCTGCCCGGGCAGCCCTGCCTCACTCTGTAGCCTGACCCTGTCACCCGCCAACACATGCAGCAGGGCCCCTGCCAGGTCTCAGAGCCGCGTGCAGGGAGAGCGGGAACGGTGGGGGAAATGAGAAGCCACAGGGATGGAGGAGAGGGGAGGGAGTGGCCAAGGAGATCTGAGAGGGCTTCCTGGAGGCGTCGCACTTGGTATGTGGACCCAGATCTAGTTAACGCAGAGAGTTCCCGGTTAGACCTGCGCTACTACTCGCCTGTAGCCCACGCGCTCAGAGAGTGGCTGGAGCCCCCTGTTGAAATGGTGGGACTTAGGATACACTGGGTTCGAGGAACTATGTGATGAGGACAGATCTCACCCGTTTCTCTCTATTTTATGTATTTGAATGTGGCTGGTGGGGCGCGCTTTACAACTCTTGGGGCCCGGAGGCCACCTGCAGGAGCCGCTGTGCCTCTCACCTCTGCCGGCTGCCGCCCCGGGACATGAGTCGGGGGTTCTGGGTGCTCCACGTGGAGTCTCACGCTGGGCCACGCGGGGCTCCGGGGGTGGCGTCTGACCCGAGCCCGGCCTCCGCAGAGTTCTCTGTGGCCCATGACCTTCGGCCTGGCCTGCTGCGCCGTGGAGATGATGCACATGGCAGCACCCCGCTACGACATGGACCGCTTTGGCGTGGTCTTCCGCGCCAGCCCGCGCCAGTCCGACGTCATGATCGTGGCCGGCACACTCACCAACAAGATGGCCCCAGCGCTTCGCAAGGTAGGCCTCGTCCCAGCCGCCCAGCCGCCCCCAGAGTGAGCTGCGCACGGACCCCGCCTCTCTTCCAGGTCTACGACCAGATGCCGGAGCCGCGCTACGTGGTCTCCATGGGGAGGTGAGTGCAGGGCGGGGGGTCTCCAGGGACAGACGTAGCGTGAGTGCTGGCCTGGCCGTGCCCTGATGGCGCTTATCAAAAGTGTCATCTACATTCAGTGAAATCCCACGTGGTCCCGGCGCTGCCCTTCAGCCGTCTCGGTGCCTCCACCCTAGGCAGATGCGCTGGTGGGCCTCTCCCCAGAACGATTCCTCCCATCCACCCCCACGCAGCAGACCCCACATTCCGCCCAGTTCTCTGCTTTACTCACACATAAGTGATGACAGGTGCTGTAGATAGTTTTATAATCTCAGCCTTCTCACTTGCCATTAGTTTTTTTTCTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCAACCCAGGCTGGAGTGCGGTGGAACCATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCAATTTTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTTACCATGTTGGCCAGGCTGGTCTTGAACTCCCTCAGGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTATAGGCATAAGCCACCACGCCTGGCCTTGCCCTCATTTTTTAGTCATTTCCCCGTAACATTGAAAGGTATTTAGTCTCTTAACATTTTAAAATATTTATTTATTTACTTAAAGATGGAGTCTAGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTCAGCCCACTACAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCTGCCACCACACCTGGCCAATTTTTGTATTTTTAGTAAAGAAGAGGTTTCACCATGTTGGCTAGGATGGTCTCGATCTCCTGATCTCGTGATCCACCCACCTCAGCCTCCCAAAGTTCTGGGATTACAGGCATGAGCCACCATGCCTGGCCAATATTTATTATTTTTATTTTTTAGAGACAGAGTCTCACTGAGTTGCCCAGGCTGGAGTGCAGTGGTGCAGTCATAGCTCACTGCAGCCTTGACCTCCTGGGCTCAAGCGGTCCCCCAACCTTAGCCTCTCAGAGTGCTGGGATTACAGATGTACTCCACTGTGCCTACTTTTTAAAATTTCTGTAGAGATCAGGTCTTGATAAGTTTACCCTTTTAAAGCGAGCAGTTCAGTGGTTTTTAGGCCACCACCTCTAATTCCAGAACATTCTCATCACCCCCAAATGAAATGCTGTCCCCATCAGCAGTCACTCTGCATCCCCTTCCGAGCCCCGGTGCCCACACCTCCCCTCCCTGTCTCTGTGGATGGGCCCGTCCTGGACATTTCACAGAAACAGGATCACACGCCGCATGGCCTTCTGTGTCCGGCGTCTCTCACTGAGCGCGACGTCCTCAAGGTGCATCCGTGCTGTGGCCTGTGTCCGAGCCTCGTGCCTTTTCTTGGCTGAATAATATCCCACTGTGTGGACATATTACTAATCTAATTCTAAACAGTTAATTAGAATATTCCAGAGTTTTCATAACCGTCTCCCACTGCTGGGCATTCAGGGTATGTCCATTTTTACGGCTGTGGGAAGCAGTGCTGGGAGTGGAGTCTGTGTGGTCTCCTGGGGTTTCCAGCTCCCTGCCCCGGGTGGACCCCAGCGCCTCACTGACAGAGCCGGAATCAGGCGAGGGTGAGGCTCAGCCGCCCCATAGACAGGGGCTGGGTGTTGGCACTGTGGCTGTCTGAAGTGGCTTTTTGTTGACACATGTGATCTGACACATCCCAGCCCCGGGAATCGGTGGTCAGGAGCCCCCTCGGGAGGGGAGC | CAACTGGGCCCGCCGGGTGAGTACTATGAGCTGTAGGCCCTCCTCGAGCGCCAGGGCCTCTCTGCACACTCACAGGCACACACATACACACACCAACGTGCAGACACGTACACACACAACACATGCATGCACACTCACATGCGCACATGTGCATGCAAGCTCACATGTATGGACAGATGTGTACACGGACCACACGCACACTCACGCACACAATGCACATATGCACACTCGCACACATGCACACTTGCACACACATGCACACACAAGCACATGTGCACACACGCTTGCACACATACACACATGCACACTTGCACTCATGCACACTCATGCGCACATATACACATGCACACGCACACTCGCACACACGTGCACATATATGCACAGTCATGCACACACATGCACACTCACACACATGCACACACGTCCTTGTGTGGACACATGCATGTGTGCCTGTTGGCATGCATGCACACAGGCACACTCACTGATGCACACACACCCCTGCGGCCGTGGAGCAGGGCGGACCCTCCCGGAGGCCCCTGTGCTGGCCTGGTGGCCTGTGGTTCCATCTGAGGATTCGGACCCTGCTGGAGATGACCCCTCCGTTTCCGTCATTCTCTTTCTGGCGTCCGTGTGTTCCTCTTGTTTCTCTTTTAAGGTGAAAGCAGTGTTTTAAGTTAAAAGGAGCGCGTGTGAAGGCAGTAGATCCTTCTCGGTACCCGTTTAAAGCCTCCCCTGCCTGTGGCGCCAGCCCCCACGCAGCCCCTGCCATCCCCCTGCAGCGTGAGCACGTGCAGCTCCCTCCAGCTCCTGCGGCACTTGCTGCGACAGCCCGGGTTCAACAATCCCCCATTGATGGACGTTCACTGTTTCCTTTTGTTTTTTGTTTCCTAAACAATGCCACGGCGAACGTCCTGCCAGGGCCGCAGTGGTCGAGACAAGGATAGTTTTTAATGCAGGATAGTTCTTTTCTTTTTCTTTTCTTTTCTTTTTTTTTTTTTTGAGACGGAGGCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCATGCTCCGCTTGCCGGGTTCTCCTGCCTCAGCCTCCTAAGTAGCTGGGACTACAGGTGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTATTTTTAGTAGAGATGGGGTTTCACCGTGTTGGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCCGGCTAATGCAGGATAGTTTCTAATGGAGGGAACCTGAGACATGGCCAGCGGCCGTCCCAACACAGGCTTCTGGCGGGCAGGTGGACCTGGCCATTTCTGCCCGGGCAGCCCTGCCTCACTCTGTAGCCTGACCCTGTCACCCGCCAACACATGCAGCAGGGCCCCTGCCAGGTCTCAGAGCCGCGTGCAGGGAGAGCGGGAACGGTGGGGGAAATGAGAAGCCACAGGGATGGAGGAGAGGGGAGGGAGTGGCCAAGGAGATCTGAGAGGGCTTCCTGGAGGCGTCGCACTTGGTATGTGGACCCAGATCTAGTTAACGCAGAGAGTTCCCGGTTAGACCTGCGCTACTACTCGCCTGTAGCCCACGCGCTCAGAGAGTGGCTGGAGCCCCCTGTTGAAATGGTGGGACTTAGGATACACTGGGTTCGAGGAACTATGTGATGAGGACAGATCTCACCCGTTTCTCTCTATTTTATGTATTTGAATGTGGCTGGTGGGGCGCGCTTTACAACTCTTGGGGCCCGGAGGCCACCTGCAGGAGCCGCTGTGCCTCTCACCTCTGCCGGCTGCCGCCCCGGGACATGAGTCGGGGGTTCTGGGTGCTCCACGTGGAGTCTCACGCTGGGCCACGCGGGGCTCCGGGGGTGGCGTCTGACCCGAGCCCGGCCTCCGCAGAGTTCTCTGTGGCCCATGACCTTCGGCCTGGCCTGCTGCGCCGTGGAGATGATGCACATGGCAGCACCCCGCTACGACATGGACCGCTTTGGCGTGGTCTTCCGCGCCAGTCCGACGTCATGATCGTGGCCGGCACACTCACCAACAAGATGGCCCCAGCGCTTCGCAAGGTAGGCCTCGTCCCAGCCGCCCAGCCGCCCCCAGAGTGAGCTGCGCACGGACCCCGCCTCTCTTCCAGGTCTACGACCAGATGCCGGAGCCGCGCTACGTGGTCTCCATGGGGAGGTGAGTGCAGGGCGGGGGGTCTCCAGGGACAGACGTAGCGTGAGTGCTGGCCTGGCCGTGCCCTGATGGCGCTTATCAAAAGTGTCATCTACATTCAGTGAAATCCCACGTGGTCCCGGCGCTGCCCTTCAGCCGTCTCGGTGCCTCCACCCTAGGCAGATGCGCTGGTGGGCCTCTCCCCAGAACGATTCCTCCCATCCACCCCCACGCAGCAGACCCCACATTCCGCCCAGTTCTCTGCTTTACTCACACATAAGTGATGACAGGTGCTGTAGATAGTTTTATAATCTCAGCCTTCTCACTTGCCATTAGTTTTTTTTCTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCAACCCAGGCTGGAGTGCGGTGGAACCATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCAATTTTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTTACCATGTTGGCCAGGCTGGTCTTGAACTCCCTCAGGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTATAGGCATAAGCCACCACGCCTGGCCTTGCCCTCATTTTTTAGTCATTTCCCCGTAACATTGAAAGGTATTTAGTCTCTTAACATTTTAAAATATTTATTTATTTACTTAAAGATGGAGTCTAGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTCAGCCCACTACAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCTGCCACCACACCTGGCCAATTTTTGTATTTTTAGTAAAGAAGAGGTTTCACCATGTTGGCTAGGATGGTCTCGATCTCCTGATCTCGTGATCCACCCACCTCAGCCTCCCAAAGTTCTGGGATTACAGGCATGAGCCACCATGCCTGGCCAATATTTATTATTTTTATTTTTTAGAGACAGAGTCTCACTGAGTTGCCCAGGCTGGAGTGCAGTGGTGCAGTCATAGCTCACTGCAGCCTTGACCTCCTGGGCTCAAGCGGTCCCCCAACCTTAGCCTCTCAGAGTGCTGGGATTACAGATGTACTCCACTGTGCCTACTTTTTAAAATTTCTGTAGAGATCAGGTCTTGATAAGTTTACCCTTTTAAAGCGAGCAGTTCAGTGGTTTTTAGGCCACCACCTCTAATTCCAGAACATTCTCATCACCCCCAAATGAAATGCTGTCCCCATCAGCAGTCACTCTGCATCCCCTTCCGAGCCCCGGTGCCCACACCTCCCCTCCCTGTCTCTGTGGATGGGCCCGTCCTGGACATTTCACAGAAACAGGATCACACGCCGCATGGCCTTCTGTGTCCGGCGTCTCTCACTGAGCGCGACGTCCTCAAGGTGCATCCGTGCTGTGGCCTGTGTCCGAGCCTCGTGCCTTTTCTTGGCTGAATAATATCCCACTGTGTGGACATATTACTAATCTAATTCTAAACAGTTAATTAGAATATTCCAGAGTTTTCATAACCGTCTCCCACTGCTGGGCATTCAGGGTATGTCCATTTTTACGGCTGTGGGAAGCAGTGCTGGGAGTGGAGTCTGTGTGGTCTCCTGGGGTTTCCAGCTCCCTGCCCCGGGTGGACCCCAGCGCCTCACTGACAGAGCCGGAATCAGGCGAGGGTGAGGCTCAGCCGCCCCATAGACAGGGGCTGGGTGTTGGCACTGTGGCTGTCTGAAGTGGCTTTTTGTTGACACATGTGATCTGACACATCCCAGCCCCGGGAATCGGTGGTCAGGAGCCCCCTCGGGAGGGGAGCNNNNNNNNNN | pathogenic | 293,277 |
Is the variant located on chromosome 19 at position 1390981, gene NDUFS7 (NADH:ubiquinone oxidoreductase core subunit S7), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Mitochondrial_complex_1_deficiency,_nuclear_type_3'] | CGCCGGGTGAGTACTATGAGCTGTAGGCCCTCCTCGAGCGCCAGGGCCTCTCTGCACACTCACAGGCACACACATACACACACCAACGTGCAGACACGTACACACACAACACATGCATGCACACTCACATGCGCACATGTGCATGCAAGCTCACATGTATGGACAGATGTGTACACGGACCACACGCACACTCACGCACACAATGCACATATGCACACTCGCACACATGCACACTTGCACACACATGCACACACAAGCACATGTGCACACACGCTTGCACACATACACACATGCACACTTGCACTCATGCACACTCATGCGCACATATACACATGCACACGCACACTCGCACACACGTGCACATATATGCACAGTCATGCACACACATGCACACTCACACACATGCACACACGTCCTTGTGTGGACACATGCATGTGTGCCTGTTGGCATGCATGCACACAGGCACACTCACTGATGCACACACACCCCTGCGGCCGTGGAGCAGGGCGGACCCTCCCGGAGGCCCCTGTGCTGGCCTGGTGGCCTGTGGTTCCATCTGAGGATTCGGACCCTGCTGGAGATGACCCCTCCGTTTCCGTCATTCTCTTTCTGGCGTCCGTGTGTTCCTCTTGTTTCTCTTTTAAGGTGAAAGCAGTGTTTTAAGTTAAAAGGAGCGCGTGTGAAGGCAGTAGATCCTTCTCGGTACCCGTTTAAAGCCTCCCCTGCCTGTGGCGCCAGCCCCCACGCAGCCCCTGCCATCCCCCTGCAGCGTGAGCACGTGCAGCTCCCTCCAGCTCCTGCGGCACTTGCTGCGACAGCCCGGGTTCAACAATCCCCCATTGATGGACGTTCACTGTTTCCTTTTGTTTTTTGTTTCCTAAACAATGCCACGGCGAACGTCCTGCCAGGGCCGCAGTGGTCGAGACAAGGATAGTTTTTAATGCAGGATAGTTCTTTTCTTTTTCTTTTCTTTTCTTTTTTTTTTTTTTGAGACGGAGGCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCATGCTCCGCTTGCCGGGTTCTCCTGCCTCAGCCTCCTAAGTAGCTGGGACTACAGGTGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTATTTTTAGTAGAGATGGGGTTTCACCGTGTTGGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCCGGCTAATGCAGGATAGTTTCTAATGGAGGGAACCTGAGACATGGCCAGCGGCCGTCCCAACACAGGCTTCTGGCGGGCAGGTGGACCTGGCCATTTCTGCCCGGGCAGCCCTGCCTCACTCTGTAGCCTGACCCTGTCACCCGCCAACACATGCAGCAGGGCCCCTGCCAGGTCTCAGAGCCGCGTGCAGGGAGAGCGGGAACGGTGGGGGAAATGAGAAGCCACAGGGATGGAGGAGAGGGGAGGGAGTGGCCAAGGAGATCTGAGAGGGCTTCCTGGAGGCGTCGCACTTGGTATGTGGACCCAGATCTAGTTAACGCAGAGAGTTCCCGGTTAGACCTGCGCTACTACTCGCCTGTAGCCCACGCGCTCAGAGAGTGGCTGGAGCCCCCTGTTGAAATGGTGGGACTTAGGATACACTGGGTTCGAGGAACTATGTGATGAGGACAGATCTCACCCGTTTCTCTCTATTTTATGTATTTGAATGTGGCTGGTGGGGCGCGCTTTACAACTCTTGGGGCCCGGAGGCCACCTGCAGGAGCCGCTGTGCCTCTCACCTCTGCCGGCTGCCGCCCCGGGACATGAGTCGGGGGTTCTGGGTGCTCCACGTGGAGTCTCACGCTGGGCCACGCGGGGCTCCGGGGGTGGCGTCTGACCCGAGCCCGGCCTCCGCAGAGTTCTCTGTGGCCCATGACCTTCGGCCTGGCCTGCTGCGCCGTGGAGATGATGCACATGGCAGCACCCCGCTACGACATGGACCGCTTTGGCGTGGTCTTCCGCGCCAGCCCGCGCCAGTCCGACGTCATGATCGTGGCCGGCACACTCACCAACAAGATGGCCCCAGCGCTTCGCAAGGTAGGCCTCGTCCCAGCCGCCCAGCCGCCCCCAGAGTGAGCTGCGCACGGACCCCGCCTCTCTTCCAGGTCTACGACCAGATGCCGGAGCCGCGCTACGTGGTCTCCATGGGGAGGTGAGTGCAGGGCGGGGGGTCTCCAGGGACAGACGTAGCGTGAGTGCTGGCCTGGCCGTGCCCTGATGGCGCTTATCAAAAGTGTCATCTACATTCAGTGAAATCCCACGTGGTCCCGGCGCTGCCCTTCAGCCGTCTCGGTGCCTCCACCCTAGGCAGATGCGCTGGTGGGCCTCTCCCCAGAACGATTCCTCCCATCCACCCCCACGCAGCAGACCCCACATTCCGCCCAGTTCTCTGCTTTACTCACACATAAGTGATGACAGGTGCTGTAGATAGTTTTATAATCTCAGCCTTCTCACTTGCCATTAGTTTTTTTTCTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCAACCCAGGCTGGAGTGCGGTGGAACCATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCAATTTTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTTACCATGTTGGCCAGGCTGGTCTTGAACTCCCTCAGGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTATAGGCATAAGCCACCACGCCTGGCCTTGCCCTCATTTTTTAGTCATTTCCCCGTAACATTGAAAGGTATTTAGTCTCTTAACATTTTAAAATATTTATTTATTTACTTAAAGATGGAGTCTAGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTCAGCCCACTACAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCTGCCACCACACCTGGCCAATTTTTGTATTTTTAGTAAAGAAGAGGTTTCACCATGTTGGCTAGGATGGTCTCGATCTCCTGATCTCGTGATCCACCCACCTCAGCCTCCCAAAGTTCTGGGATTACAGGCATGAGCCACCATGCCTGGCCAATATTTATTATTTTTATTTTTTAGAGACAGAGTCTCACTGAGTTGCCCAGGCTGGAGTGCAGTGGTGCAGTCATAGCTCACTGCAGCCTTGACCTCCTGGGCTCAAGCGGTCCCCCAACCTTAGCCTCTCAGAGTGCTGGGATTACAGATGTACTCCACTGTGCCTACTTTTTAAAATTTCTGTAGAGATCAGGTCTTGATAAGTTTACCCTTTTAAAGCGAGCAGTTCAGTGGTTTTTAGGCCACCACCTCTAATTCCAGAACATTCTCATCACCCCCAAATGAAATGCTGTCCCCATCAGCAGTCACTCTGCATCCCCTTCCGAGCCCCGGTGCCCACACCTCCCCTCCCTGTCTCTGTGGATGGGCCCGTCCTGGACATTTCACAGAAACAGGATCACACGCCGCATGGCCTTCTGTGTCCGGCGTCTCTCACTGAGCGCGACGTCCTCAAGGTGCATCCGTGCTGTGGCCTGTGTCCGAGCCTCGTGCCTTTTCTTGGCTGAATAATATCCCACTGTGTGGACATATTACTAATCTAATTCTAAACAGTTAATTAGAATATTCCAGAGTTTTCATAACCGTCTCCCACTGCTGGGCATTCAGGGTATGTCCATTTTTACGGCTGTGGGAAGCAGTGCTGGGAGTGGAGTCTGTGTGGTCTCCTGGGGTTTCCAGCTCCCTGCCCCGGGTGGACCCCAGCGCCTCACTGACAGAGCCGGAATCAGGCGAGGGTGAGGCTCAGCCGCCCCATAGACAGGGGCTGGGTGTTGGCACTGTGGCTGTCTGAAGTGGCTTTTTGTTGACACATGTGATCTGACACATCCCAGCCCCGGGAATCGGTGGTCAGGAGCCCCCTCGGGAGGGGAGCACTTTTCCCC | CGCCGGGTGAGTACTATGAGCTGTAGGCCCTCCTCGAGCGCCAGGGCCTCTCTGCACACTCACAGGCACACACATACACACACCAACGTGCAGACACGTACACACACAACACATGCATGCACACTCACATGCGCACATGTGCATGCAAGCTCACATGTATGGACAGATGTGTACACGGACCACACGCACACTCACGCACACAATGCACATATGCACACTCGCACACATGCACACTTGCACACACATGCACACACAAGCACATGTGCACACACGCTTGCACACATACACACATGCACACTTGCACTCATGCACACTCATGCGCACATATACACATGCACACGCACACTCGCACACACGTGCACATATATGCACAGTCATGCACACACATGCACACTCACACACATGCACACACGTCCTTGTGTGGACACATGCATGTGTGCCTGTTGGCATGCATGCACACAGGCACACTCACTGATGCACACACACCCCTGCGGCCGTGGAGCAGGGCGGACCCTCCCGGAGGCCCCTGTGCTGGCCTGGTGGCCTGTGGTTCCATCTGAGGATTCGGACCCTGCTGGAGATGACCCCTCCGTTTCCGTCATTCTCTTTCTGGCGTCCGTGTGTTCCTCTTGTTTCTCTTTTAAGGTGAAAGCAGTGTTTTAAGTTAAAAGGAGCGCGTGTGAAGGCAGTAGATCCTTCTCGGTACCCGTTTAAAGCCTCCCCTGCCTGTGGCGCCAGCCCCCACGCAGCCCCTGCCATCCCCCTGCAGCGTGAGCACGTGCAGCTCCCTCCAGCTCCTGCGGCACTTGCTGCGACAGCCCGGGTTCAACAATCCCCCATTGATGGACGTTCACTGTTTCCTTTTGTTTTTTGTTTCCTAAACAATGCCACGGCGAACGTCCTGCCAGGGCCGCAGTGGTCGAGACAAGGATAGTTTTTAATGCAGGATAGTTCTTTTCTTTTTCTTTTCTTTTCTTTTTTTTTTTTTTGAGACGGAGGCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCATGCTCCGCTTGCCGGGTTCTCCTGCCTCAGCCTCCTAAGTAGCTGGGACTACAGGTGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTATTTTTAGTAGAGATGGGGTTTCACCGTGTTGGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCCGGCTAATGCAGGATAGTTTCTAATGGAGGGAACCTGAGACATGGCCAGCGGCCGTCCCAACACAGGCTTCTGGCGGGCAGGTGGACCTGGCCATTTCTGCCCGGGCAGCCCTGCCTCACTCTGTAGCCTGACCCTGTCACCCGCCAACACATGCAGCAGGGCCCCTGCCAGGTCTCAGAGCCGCGTGCAGGGAGAGCGGGAACGGTGGGGGAAATGAGAAGCCACAGGGATGGAGGAGAGGGGAGGGAGTGGCCAAGGAGATCTGAGAGGGCTTCCTGGAGGCGTCGCACTTGGTATGTGGACCCAGATCTAGTTAACGCAGAGAGTTCCCGGTTAGACCTGCGCTACTACTCGCCTGTAGCCCACGCGCTCAGAGAGTGGCTGGAGCCCCCTGTTGAAATGGTGGGACTTAGGATACACTGGGTTCGAGGAACTATGTGATGAGGACAGATCTCACCCGTTTCTCTCTATTTTATGTATTTGAATGTGGCTGGTGGGGCGCGCTTTACAACTCTTGGGGCCCGGAGGCCACCTGCAGGAGCCGCTGTGCCTCTCACCTCTGCCGGCTGCCGCCCCGGGACATGAGTCGGGGGTTCTGGGTGCTCCACGTGGAGTCTCACGCTGGGCCACGCGGGGCTCCGGGGGTGGCGTCTGACCCGAGCCCGGCCTCCGCAGAGTTCTCTGTGGCCCATGACCTTCGGCCTGGCCTGCTGCGCCGTGGAGATGATGCACATGGCAGCACCCCGCTACGACATGGACCGCTTTGGCGTGGTCTTCCGCGCCAGCCCGCGCCAGTCCGCGCCAGTCCGACGTCATGATCGTGGCCGGCACACTCACCAACAAGATGGCCCCAGCGCTTCGCAAGGTAGGCCTCGTCCCAGCCGCCCAGCCGCCCCCAGAGTGAGCTGCGCACGGACCCCGCCTCTCTTCCAGGTCTACGACCAGATGCCGGAGCCGCGCTACGTGGTCTCCATGGGGAGGTGAGTGCAGGGCGGGGGGTCTCCAGGGACAGACGTAGCGTGAGTGCTGGCCTGGCCGTGCCCTGATGGCGCTTATCAAAAGTGTCATCTACATTCAGTGAAATCCCACGTGGTCCCGGCGCTGCCCTTCAGCCGTCTCGGTGCCTCCACCCTAGGCAGATGCGCTGGTGGGCCTCTCCCCAGAACGATTCCTCCCATCCACCCCCACGCAGCAGACCCCACATTCCGCCCAGTTCTCTGCTTTACTCACACATAAGTGATGACAGGTGCTGTAGATAGTTTTATAATCTCAGCCTTCTCACTTGCCATTAGTTTTTTTTCTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCAACCCAGGCTGGAGTGCGGTGGAACCATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCAATTTTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTTACCATGTTGGCCAGGCTGGTCTTGAACTCCCTCAGGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTATAGGCATAAGCCACCACGCCTGGCCTTGCCCTCATTTTTTAGTCATTTCCCCGTAACATTGAAAGGTATTTAGTCTCTTAACATTTTAAAATATTTATTTATTTACTTAAAGATGGAGTCTAGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTCAGCCCACTACAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCTGCCACCACACCTGGCCAATTTTTGTATTTTTAGTAAAGAAGAGGTTTCACCATGTTGGCTAGGATGGTCTCGATCTCCTGATCTCGTGATCCACCCACCTCAGCCTCCCAAAGTTCTGGGATTACAGGCATGAGCCACCATGCCTGGCCAATATTTATTATTTTTATTTTTTAGAGACAGAGTCTCACTGAGTTGCCCAGGCTGGAGTGCAGTGGTGCAGTCATAGCTCACTGCAGCCTTGACCTCCTGGGCTCAAGCGGTCCCCCAACCTTAGCCTCTCAGAGTGCTGGGATTACAGATGTACTCCACTGTGCCTACTTTTTAAAATTTCTGTAGAGATCAGGTCTTGATAAGTTTACCCTTTTAAAGCGAGCAGTTCAGTGGTTTTTAGGCCACCACCTCTAATTCCAGAACATTCTCATCACCCCCAAATGAAATGCTGTCCCCATCAGCAGTCACTCTGCATCCCCTTCCGAGCCCCGGTGCCCACACCTCCCCTCCCTGTCTCTGTGGATGGGCCCGTCCTGGACATTTCACAGAAACAGGATCACACGCCGCATGGCCTTCTGTGTCCGGCGTCTCTCACTGAGCGCGACGTCCTCAAGGTGCATCCGTGCTGTGGCCTGTGTCCGAGCCTCGTGCCTTTTCTTGGCTGAATAATATCCCACTGTGTGGACATATTACTAATCTAATTCTAAACAGTTAATTAGAATATTCCAGAGTTTTCATAACCGTCTCCCACTGCTGGGCATTCAGGGTATGTCCATTTTTACGGCTGTGGGAAGCAGTGCTGGGAGTGGAGTCTGTGTGGTCTCCTGGGGTTTCCAGCTCCCTGCCCCGGGTGGACCCCAGCGCCTCACTGACAGAGCCGGAATCAGGCGAGGGTGAGGCTCAGCCGCCCCATAGACAGGGGCTGGGTGTTGGCACTGTGGCTGTCTGAAGTGGCTTTTTGTTGACACATGTGATCTGACACATCCCAGCCCCGGGAATCGGTGGTCAGGAGCCCCCTCGGGAGGGGAGC | pathogenic | 293,278 |
Variant in NDUFS7 (NADH:ubiquinone oxidoreductase core subunit S7), chromosome 19, position 1391178—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | benign | ACACAATGCACATATGCACACTCGCACACATGCACACTTGCACACACATGCACACACAAGCACATGTGCACACACGCTTGCACACATACACACATGCACACTTGCACTCATGCACACTCATGCGCACATATACACATGCACACGCACACTCGCACACACGTGCACATATATGCACAGTCATGCACACACATGCACACTCACACACATGCACACACGTCCTTGTGTGGACACATGCATGTGTGCCTGTTGGCATGCATGCACACAGGCACACTCACTGATGCACACACACCCCTGCGGCCGTGGAGCAGGGCGGACCCTCCCGGAGGCCCCTGTGCTGGCCTGGTGGCCTGTGGTTCCATCTGAGGATTCGGACCCTGCTGGAGATGACCCCTCCGTTTCCGTCATTCTCTTTCTGGCGTCCGTGTGTTCCTCTTGTTTCTCTTTTAAGGTGAAAGCAGTGTTTTAAGTTAAAAGGAGCGCGTGTGAAGGCAGTAGATCCTTCTCGGTACCCGTTTAAAGCCTCCCCTGCCTGTGGCGCCAGCCCCCACGCAGCCCCTGCCATCCCCCTGCAGCGTGAGCACGTGCAGCTCCCTCCAGCTCCTGCGGCACTTGCTGCGACAGCCCGGGTTCAACAATCCCCCATTGATGGACGTTCACTGTTTCCTTTTGTTTTTTGTTTCCTAAACAATGCCACGGCGAACGTCCTGCCAGGGCCGCAGTGGTCGAGACAAGGATAGTTTTTAATGCAGGATAGTTCTTTTCTTTTTCTTTTCTTTTCTTTTTTTTTTTTTTGAGACGGAGGCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCATGCTCCGCTTGCCGGGTTCTCCTGCCTCAGCCTCCTAAGTAGCTGGGACTACAGGTGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTATTTTTAGTAGAGATGGGGTTTCACCGTGTTGGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCCGGCTAATGCAGGATAGTTTCTAATGGAGGGAACCTGAGACATGGCCAGCGGCCGTCCCAACACAGGCTTCTGGCGGGCAGGTGGACCTGGCCATTTCTGCCCGGGCAGCCCTGCCTCACTCTGTAGCCTGACCCTGTCACCCGCCAACACATGCAGCAGGGCCCCTGCCAGGTCTCAGAGCCGCGTGCAGGGAGAGCGGGAACGGTGGGGGAAATGAGAAGCCACAGGGATGGAGGAGAGGGGAGGGAGTGGCCAAGGAGATCTGAGAGGGCTTCCTGGAGGCGTCGCACTTGGTATGTGGACCCAGATCTAGTTAACGCAGAGAGTTCCCGGTTAGACCTGCGCTACTACTCGCCTGTAGCCCACGCGCTCAGAGAGTGGCTGGAGCCCCCTGTTGAAATGGTGGGACTTAGGATACACTGGGTTCGAGGAACTATGTGATGAGGACAGATCTCACCCGTTTCTCTCTATTTTATGTATTTGAATGTGGCTGGTGGGGCGCGCTTTACAACTCTTGGGGCCCGGAGGCCACCTGCAGGAGCCGCTGTGCCTCTCACCTCTGCCGGCTGCCGCCCCGGGACATGAGTCGGGGGTTCTGGGTGCTCCACGTGGAGTCTCACGCTGGGCCACGCGGGGCTCCGGGGGTGGCGTCTGACCCGAGCCCGGCCTCCGCAGAGTTCTCTGTGGCCCATGACCTTCGGCCTGGCCTGCTGCGCCGTGGAGATGATGCACATGGCAGCACCCCGCTACGACATGGACCGCTTTGGCGTGGTCTTCCGCGCCAGCCCGCGCCAGTCCGACGTCATGATCGTGGCCGGCACACTCACCAACAAGATGGCCCCAGCGCTTCGCAAGGTAGGCCTCGTCCCAGCCGCCCAGCCGCCCCCAGAGTGAGCTGCGCACGGACCCCGCCTCTCTTCCAGGTCTACGACCAGATGCCGGAGCCGCGCTACGTGGTCTCCATGGGGAGGTGAGTGCAGGGCGGGGGGTCTCCAGGGACAGACGTAGCGTGAGTGCTGGCCTGGCCGTGCCCTGATGGCGCTTATCAAAAGTGTCATCTACATTCAGTGAAATCCCACGTGGTCCCGGCGCTGCCCTTCAGCCGTCTCGGTGCCTCCACCCTAGGCAGATGCGCTGGTGGGCCTCTCCCCAGAACGATTCCTCCCATCCACCCCCACGCAGCAGACCCCACATTCCGCCCAGTTCTCTGCTTTACTCACACATAAGTGATGACAGGTGCTGTAGATAGTTTTATAATCTCAGCCTTCTCACTTGCCATTAGTTTTTTTTCTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCAACCCAGGCTGGAGTGCGGTGGAACCATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCAATTTTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTTACCATGTTGGCCAGGCTGGTCTTGAACTCCCTCAGGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTATAGGCATAAGCCACCACGCCTGGCCTTGCCCTCATTTTTTAGTCATTTCCCCGTAACATTGAAAGGTATTTAGTCTCTTAACATTTTAAAATATTTATTTATTTACTTAAAGATGGAGTCTAGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTCAGCCCACTACAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCTGCCACCACACCTGGCCAATTTTTGTATTTTTAGTAAAGAAGAGGTTTCACCATGTTGGCTAGGATGGTCTCGATCTCCTGATCTCGTGATCCACCCACCTCAGCCTCCCAAAGTTCTGGGATTACAGGCATGAGCCACCATGCCTGGCCAATATTTATTATTTTTATTTTTTAGAGACAGAGTCTCACTGAGTTGCCCAGGCTGGAGTGCAGTGGTGCAGTCATAGCTCACTGCAGCCTTGACCTCCTGGGCTCAAGCGGTCCCCCAACCTTAGCCTCTCAGAGTGCTGGGATTACAGATGTACTCCACTGTGCCTACTTTTTAAAATTTCTGTAGAGATCAGGTCTTGATAAGTTTACCCTTTTAAAGCGAGCAGTTCAGTGGTTTTTAGGCCACCACCTCTAATTCCAGAACATTCTCATCACCCCCAAATGAAATGCTGTCCCCATCAGCAGTCACTCTGCATCCCCTTCCGAGCCCCGGTGCCCACACCTCCCCTCCCTGTCTCTGTGGATGGGCCCGTCCTGGACATTTCACAGAAACAGGATCACACGCCGCATGGCCTTCTGTGTCCGGCGTCTCTCACTGAGCGCGACGTCCTCAAGGTGCATCCGTGCTGTGGCCTGTGTCCGAGCCTCGTGCCTTTTCTTGGCTGAATAATATCCCACTGTGTGGACATATTACTAATCTAATTCTAAACAGTTAATTAGAATATTCCAGAGTTTTCATAACCGTCTCCCACTGCTGGGCATTCAGGGTATGTCCATTTTTACGGCTGTGGGAAGCAGTGCTGGGAGTGGAGTCTGTGTGGTCTCCTGGGGTTTCCAGCTCCCTGCCCCGGGTGGACCCCAGCGCCTCACTGACAGAGCCGGAATCAGGCGAGGGTGAGGCTCAGCCGCCCCATAGACAGGGGCTGGGTGTTGGCACTGTGGCTGTCTGAAGTGGCTTTTTGTTGACACATGTGATCTGACACATCCCAGCCCCGGGAATCGGTGGTCAGGAGCCCCCTCGGGAGGGGAGCACTTTTCCCCGAGTTATCAGCCACGTGTGAGCTTGCGCCCCACTGGTCCCACAGAGGCTCTGGGAGCCTGTGCGTGTTTGCTCATTGCTTCTCCGTGACAAGTTCCAGCCTCGTAGGTGCCTGGCCTGCAGTTGAAGGCGGGTGGGGATGGGGCGAGGCCTCGTGGAGGGAGGGTGGGCAGGCGGGTCTTCGGCACACTCCCCTCAC | ACACAATGCACATATGCACACTCGCACACATGCACACTTGCACACACATGCACACACAAGCACATGTGCACACACGCTTGCACACATACACACATGCACACTTGCACTCATGCACACTCATGCGCACATATACACATGCACACGCACACTCGCACACACGTGCACATATATGCACAGTCATGCACACACATGCACACTCACACACATGCACACACGTCCTTGTGTGGACACATGCATGTGTGCCTGTTGGCATGCATGCACACAGGCACACTCACTGATGCACACACACCCCTGCGGCCGTGGAGCAGGGCGGACCCTCCCGGAGGCCCCTGTGCTGGCCTGGTGGCCTGTGGTTCCATCTGAGGATTCGGACCCTGCTGGAGATGACCCCTCCGTTTCCGTCATTCTCTTTCTGGCGTCCGTGTGTTCCTCTTGTTTCTCTTTTAAGGTGAAAGCAGTGTTTTAAGTTAAAAGGAGCGCGTGTGAAGGCAGTAGATCCTTCTCGGTACCCGTTTAAAGCCTCCCCTGCCTGTGGCGCCAGCCCCCACGCAGCCCCTGCCATCCCCCTGCAGCGTGAGCACGTGCAGCTCCCTCCAGCTCCTGCGGCACTTGCTGCGACAGCCCGGGTTCAACAATCCCCCATTGATGGACGTTCACTGTTTCCTTTTGTTTTTTGTTTCCTAAACAATGCCACGGCGAACGTCCTGCCAGGGCCGCAGTGGTCGAGACAAGGATAGTTTTTAATGCAGGATAGTTCTTTTCTTTTTCTTTTCTTTTCTTTTTTTTTTTTTTGAGACGGAGGCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCATGCTCCGCTTGCCGGGTTCTCCTGCCTCAGCCTCCTAAGTAGCTGGGACTACAGGTGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTATTTTTAGTAGAGATGGGGTTTCACCGTGTTGGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCCGGCTAATGCAGGATAGTTTCTAATGGAGGGAACCTGAGACATGGCCAGCGGCCGTCCCAACACAGGCTTCTGGCGGGCAGGTGGACCTGGCCATTTCTGCCCGGGCAGCCCTGCCTCACTCTGTAGCCTGACCCTGTCACCCGCCAACACATGCAGCAGGGCCCCTGCCAGGTCTCAGAGCCGCGTGCAGGGAGAGCGGGAACGGTGGGGGAAATGAGAAGCCACAGGGATGGAGGAGAGGGGAGGGAGTGGCCAAGGAGATCTGAGAGGGCTTCCTGGAGGCGTCGCACTTGGTATGTGGACCCAGATCTAGTTAACGCAGAGAGTTCCCGGTTAGACCTGCGCTACTACTCGCCTGTAGCCCACGCGCTCAGAGAGTGGCTGGAGCCCCCTGTTGAAATGGTGGGACTTAGGATACACTGGGTTCGAGGAACTATGTGATGAGGACAGATCTCACCCGTTTCTCTCTATTTTATGTATTTGAATGTGGCTGGTGGGGCGCGCTTTACAACTCTTGGGGCCCGGAGGCCACCTGCAGGAGCCGCTGTGCCTCTCACCTCTGCCGGCTGCCGCCCCGGGACATGAGTCGGGGGTTCTGGGTGCTCCACGTGGAGTCTCACGCTGGGCCACGCGGGGCTCCGGGGGTGGCGTCTGACCCGAGCCCGGCCTCCGCAGAGTTCTCTGTGGCCCATGACCTTCGGCCTGGCCTGCTGCGCCGTGGAGATGATGCACATGGCAGCACCCCGCTACGACATGGACCGCTTTGGCGTGGTCTTCCGCGCCAGCCCGCGCCAGTCCGACGTCATGATCGTGGCCGGCACACTCACCAACAAGATGGCCCCAGCGCTTCGCAAGGTAGGCCTCGTCCCAGCCGCCCAGCCGCCCCCAGAGTGAGCTGCGCACGGACCCCGCCTCTCTTCCAGGTCTACGACCAGATGCCGGAGCCGCGCTACGTGGTCTCCATGGGGAGGTGAGTGCAGGGCGGGGGGGTCTCCAGGGACAGACGTAGCGTGAGTGCTGGCCTGGCCGTGCCCTGATGGCGCTTATCAAAAGTGTCATCTACATTCAGTGAAATCCCACGTGGTCCCGGCGCTGCCCTTCAGCCGTCTCGGTGCCTCCACCCTAGGCAGATGCGCTGGTGGGCCTCTCCCCAGAACGATTCCTCCCATCCACCCCCACGCAGCAGACCCCACATTCCGCCCAGTTCTCTGCTTTACTCACACATAAGTGATGACAGGTGCTGTAGATAGTTTTATAATCTCAGCCTTCTCACTTGCCATTAGTTTTTTTTCTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCAACCCAGGCTGGAGTGCGGTGGAACCATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCAATTTTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTTACCATGTTGGCCAGGCTGGTCTTGAACTCCCTCAGGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTATAGGCATAAGCCACCACGCCTGGCCTTGCCCTCATTTTTTAGTCATTTCCCCGTAACATTGAAAGGTATTTAGTCTCTTAACATTTTAAAATATTTATTTATTTACTTAAAGATGGAGTCTAGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTCAGCCCACTACAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCTGCCACCACACCTGGCCAATTTTTGTATTTTTAGTAAAGAAGAGGTTTCACCATGTTGGCTAGGATGGTCTCGATCTCCTGATCTCGTGATCCACCCACCTCAGCCTCCCAAAGTTCTGGGATTACAGGCATGAGCCACCATGCCTGGCCAATATTTATTATTTTTATTTTTTAGAGACAGAGTCTCACTGAGTTGCCCAGGCTGGAGTGCAGTGGTGCAGTCATAGCTCACTGCAGCCTTGACCTCCTGGGCTCAAGCGGTCCCCCAACCTTAGCCTCTCAGAGTGCTGGGATTACAGATGTACTCCACTGTGCCTACTTTTTAAAATTTCTGTAGAGATCAGGTCTTGATAAGTTTACCCTTTTAAAGCGAGCAGTTCAGTGGTTTTTAGGCCACCACCTCTAATTCCAGAACATTCTCATCACCCCCAAATGAAATGCTGTCCCCATCAGCAGTCACTCTGCATCCCCTTCCGAGCCCCGGTGCCCACACCTCCCCTCCCTGTCTCTGTGGATGGGCCCGTCCTGGACATTTCACAGAAACAGGATCACACGCCGCATGGCCTTCTGTGTCCGGCGTCTCTCACTGAGCGCGACGTCCTCAAGGTGCATCCGTGCTGTGGCCTGTGTCCGAGCCTCGTGCCTTTTCTTGGCTGAATAATATCCCACTGTGTGGACATATTACTAATCTAATTCTAAACAGTTAATTAGAATATTCCAGAGTTTTCATAACCGTCTCCCACTGCTGGGCATTCAGGGTATGTCCATTTTTACGGCTGTGGGAAGCAGTGCTGGGAGTGGAGTCTGTGTGGTCTCCTGGGGTTTCCAGCTCCCTGCCCCGGGTGGACCCCAGCGCCTCACTGACAGAGCCGGAATCAGGCGAGGGTGAGGCTCAGCCGCCCCATAGACAGGGGCTGGGTGTTGGCACTGTGGCTGTCTGAAGTGGCTTTTTGTTGACACATGTGATCTGACACATCCCAGCCCCGGGAATCGGTGGTCAGGAGCCCCCTCGGGAGGGGAGCACTTTTCCCCGAGTTATCAGCCACGTGTGAGCTTGCGCCCCACTGGTCCCACAGAGGCTCTGGGAGCCTGTGCGTGTTTGCTCATTGCTTCTCCGTGACAAGTTCCAGCCTCGTAGGTGCCTGGCCTGCAGTTGAAGGCGGGTGGGGATGGGGCGAGGCCTCGTGGAGGGAGGGTGGGCAGGCGGGTCTTCGGCACACTCCCCTCA | benign | 293,285 |
Does the genetic variant at chromosome 19, position 1397459, impacting gene GAMT (guanidinoacetate N-methyltransferase), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Deficiency_of_guanidinoacetate_methyltransferase'] | GCCCTGCTCTACGGCATCCTGCAGCTGCAGAGGAAGATCAAGCGGGAGCGGAGGCTGCAGATCTGGTACCGCAGGTAGCGCCGCCGCCGCCGCCGCCGGAGCCTGTCGCCGTCCTGTCCCCAGCCTGCTTGTGTCCCGTGAGGTTGTCAATAAACCTGCCCTCGGGCTGCCGCCTCCCAGTGTGGTGTGTGGGTGAAAGGAGCCGGGGACGTGGGGGGATCACAGACCCCCTGCGGCGTGCCGCCCTTGGGCTGGGGGCGGTTGGAGCAGAGCCGGGGGCAGAGACGGGCACTGTGCCTGCCAGCAGGGTCCTTTCCCGCTGCTCTGCGAAGACCCTGGGGTGGACATCGTGGCCCAAAGTCCCGAGCGTGGAAGGCCGCACACCCATCCTTCCTGGGAGGGCCCTGACTCAGTCTCCCTCTATGCCCTAAGGCAGGCTGAGCAAAGCCCGTCTGAGCCTGCCCCGGGGTTCAGAGTGTGGCCTGTGGCCTGCGTGTGGACTTGGGCAGGTCGCCACTGCCCTCTGGCCCATTTCCAGGCGGTGGCATGGGCTGGTTAGCTGAGGGCTGGGGCCAGGGAGATGGGGAGGTGGCACCTGGTCCAAACCAAAGGGCTGCAGGGCAGGACTGTGAGCCTCACAGGCTGTCTGACCCCACTTTGGGGACCCTCTCCACCCAGGGCTTTCGGGGAACCCTGACTCCACCCCACCAGCCCCTTCATCCGTCGAAGTCCAGGCCTCATCAGGGACGTGCATTCATTCAGCAAACGTCCCATCTTCCTGTGTTCAGCGCCAGATGCCGCCGGTGCTGGGACCTCGCTCTGCAGGCCCACCCTGCATGCCTGCTGCACACCAGGGACAGTTCTGGGGATCGGCAGTTATGACGGGCCAGGCTGGGATGGGGCCCGGGAGACTGGGGCGGGGGTGGGGAAGAGGCACCCAGCCCAGCCGGGTCAAGCAGCCTGGAAGCAGGACATGCTGGGGTGGGGACAGGGCGTCAGCCAGCGGAACAGCAGCCCTGGGCCAGAGTGCAGAGCACAGGAGCCGGCCTTCTCTCAGGGCAAGGAGGTCAGTGGAGGGGGCGAGCAGGACGGCCCCAGGAAGATGGGCGGGCTGCACACATGTGGATGCAGGGGGCAAAGTGGGAGGCATGGGGTGACCAGCTGGGCACAAGGGCACAGACAGGCAGGACCCGGGATGTTCCTGGGGCTGGGCAGGTGGGGCTGCCCCTGCAATGGGCCCAGCAGGGGCGATGCCTCCTGAGAGGAAACCACATCTGGAAATGGGAGGCTTGGGGAACGGGGCTGTCAGCAGCCACGCCCCTCCTGGGGCGGGAGGAGGGGAGCTCAGGGTGTGCTGGGGCGGGCAGAGAAGTGGGTTCCTGCCTGGGGTGGGCAAAGATCCTTGTCCCACCCACACCCCGGCCGTGGTGCTGCCACCCCCTGAGACCCTGACCTAGTTACCCCCTTCCCTGACCCCACTGCAAAGGGTCAGGTGGCTTTCATCTGAGGAAGGGACATCGGGCATCAGCTGGAGATGTCTGCTATGGGCAAGACAGTGGGGGGGGCGGGGCGGATCCTGGGGCCGCTCAGAAACCTGGAGGGGAGTCACCCACTTTTCCTGTGTCCATGGGATGGGCGGGAGGTGAGGGAGCAGCCGCTGGAAGTAACAGTCGCACGCTCACTGCCGACTGGCCAAGCCCAGCGCCGGCGTTTACTTCACCTCAGGGACCCTGCAGTGGGCAGCAGTGACCCTCACAGAGAAGCTGGGAAAGCTGCTGGTGACACACAGCTGGGATCAGCCCTGGGCTGGTGGGACCCCTCACAGAGAAGCCGGGAAAGCTTCTGGTGACACACAGCTGGGATCAGCCCAGGGCTGGTGCGACACCCTGGACTCCCGGCCAGGAAGGCACGGAGGAGGGCATGGGTGTGGCCGGGCCGGGGTGGGGGCTCAGCCTTTGGTCACCAGGGGCGTGATCATCTGTGGGAAGGCGTAGTAGCGGCAGTCGGCCGGTGGGACCAGCGCCATCACCTCCGTACGGATGTTCTCCCTCCGGAAGCCGGCCTCCAGCAGCGCGGGCACCTGCGTCTCCTGGTCGGGGATGGCACCAGGTCACCTCTGAGGGCCATGGGGGTCACGTGCACCCTGGCGCCCACCCCTCATTGAAGAGTGTTTACAGATGGCAAGGCCCGGGTGGGCGGCTGCAGCTCCCGTGGGCACGTGGCAGGGCAGCCCTGGAAGCCCAGGTGTGAACGGGAATCTCCAGCTCCCCAGTGCGGGCAGCAGCTTCCCGGCTGTCCTGGAACCCCAGCCCCACACTCGAGCCACCCCCGGGCACCTACTCCACAGTTCTCCAGACCTTGCCAGTGTGGCGGGTGGAGCCAAAGAATCACACCAGAAAAAGAACACAGGCCACTAGTTCCCATTTTGGAAGAAAAGCTGCCCCAGGGGCCACAGGCACCCAGCCGGCTCTCACAACAGCAGCCCAGGGCAACCACATAGAGCCCTTCTCAGATAGGCCGCCTCCACCAGGCAGAGGGAACAGCGAGACAAGCACTGCTGAACCAGCAAAGACAGCCAGGTGGAGGCAGCTGGAGGGAGGGGAACACGCAGGGCTTAGGCTGAACCACAGGGCACTGGGGAGCCATGGGAGGTTGTTGAGCTGGTGAGGGACTTTGATTTCCATTTTTTTTGTTTTTGTTTTGTTGAGATGGAGTCTCGGTCTGTTGCCCAGGCTGGAGTACAACGGTGCAATCTCGGCTCACAGCAACCTCCGCCTCCCATGTTCAAGTGATTCTCATGCCTCAGCCTCCCGAGTAGCTGGAATTACAGGCGCCCGCCACCACGCCTGGCTAACTTTTGTATTTTTAGTAGAGATGGGATTCTGCCATGTTGGCCAGGCTAGGCTCAAACTCCTGGGCTCAAGTGATCCACCCGCCTTGGCCTTCCGAAGTGCCGGGATCACAGGTGTGAGCCACCACGCCCAGCCTGATTTCCATTTTTTTTTTAAATTTTCTTTCTTTCTTTCTTTCTTTCTTTTTTCTTGAGACAGGGTCTGGCTCTGTTACCCAGGCTGGAGTGCAGTGGTTCGATCTGGGCTCACTGCAACCTCTGCCCCTGGGGCCCAAGCAATCCTCCTACCTCAGCCTCCCAAGTAGCTGGGAGTACAGGCACACGCCACCACGCCCAGCTAGTTTTTTGTATTTTTTTTTTTTAGGAAAGATGAGGTCTTGCTCTGTAGCCCAGGCTGGTCTTGAACTCCTAGGCTCAAGCAATCTGCCCACCTCGGCCTTCCACAGTGCTGGGATTATAGACCTGAGCCACTGCTCCTGGCAGCCACTGCGCCAGGCAAAGGACTTTGATTTCTAAATGAACCAGCACAGTCCAGCCCACCCAGGGGGTCAGGAAGGGACCCTCCCCAGGTAGCAAGGTGGCTCCAGCAGCCCCTTCCCACCCCCATCCAAGGTCACTTCCTGGAGACCCATGGGGAACTTCAGGTGGGCGCACCTCAAACATGATGGTGATGTCTGAGTACTTGGACTTCATCAGCTCCCCCCAGGAGGTGAGGTTGCAGTAGGTGAGGACGCCCCCCGGCTTCAGCAGGCGAAAGGCGTGGTTCTGTGGAAGGGGAGTGGCCAGTGGTCAGGACGGAGGTGGGGGTGTGGGCAGAGGGGCTTCCCCGAGGGCCTCCCGCATCCCAGCAAGTCAGAGAGAACCACCTTGATGAAGTTGAACTGGTGTGTGTGCCAGGTCTCCTCCGAGAGTGGGTACGTGTCGTACAGGATCCCTGCACGGAGAACAGAAGCCCACGCGGTCAGGGCCGGGCTCAGCGCCTCACCCAGCCTCACCCGGCTCATCCCCCAGCGGGTGGAGGTGCAGTGAGACGGGGCCGTGGGTAGAGGTGGGGCTCCCACACAGGCTTGAGAACCCCGAGATCGCCTCCAGGGCCCCTCCGTGAGCATGCCCATCCCCGGTGCTCCGCCATCCCACAGCCAGGCCCACACCCACTTGGGCTCTGTCCCCCCAGTGCACATCAGAGGGACCCCCACAAGCAAAGGAGGGGCTGCATTGGAGCTGGGGAGGCCCACCCTGTGATAC | GCCCTGCTCTACGGCATCCTGCAGCTGCAGAGGAAGATCAAGCGGGAGCGGAGGCTGCAGATCTGGTACCGCAGGTAGCGCCGCCGCCGCCGCCGCCGGAGCCTGTCGCCGTCCTGTCCCCAGCCTGCTTGTGTCCCGTGAGGTTGTCAATAAACCTGCCCTCGGGCTGCCGCCTCCCAGTGTGGTGTGTGGGTGAAAGGAGCCGGGGACGTGGGGGGATCACAGACCCCCTGCGGCGTGCCGCCCTTGGGCTGGGGGCGGTTGGAGCAGAGCCGGGGGCAGAGACGGGCACTGTGCCTGCCAGCAGGGTCCTTTCCCGCTGCTCTGCGAAGACCCTGGGGTGGACATCGTGGCCCAAAGTCCCGAGCGTGGAAGGCCGCACACCCATCCTTCCTGGGAGGGCCCTGACTCAGTCTCCCTCTATGCCCTAAGGCAGGCTGAGCAAAGCCCGTCTGAGCCTGCCCCGGGGTTCAGAGTGTGGCCTGTGGCCTGCGTGTGGACTTGGGCAGGTCGCCACTGCCCTCTGGCCCATTTCCAGGCGGTGGCATGGGCTGGTTAGCTGAGGGCTGGGGCCAGGGAGATGGGGAGGTGGCACCTGGTCCAAACCAAAGGGCTGCAGGGCAGGACTGTGAGCCTCACAGGCTGTCTGACCCCACTTTGGGGACCCTCTCCACCCAGGGCTTTCGGGGAACCCTGACTCCACCCCACCAGCCCCTTCATCCGTCGAAGTCCAGGCCTCATCAGGGACGTGCATTCATTCAGCAAACGTCCCATCTTCCTGTGTTCAGCGCCAGATGCCGCCGGTGCTGGGACCTCGCTCTGCAGGCCCACCCTGCATGCCTGCTGCACACCAGGGACAGTTCTGGGGATCGGCAGTTATGACGGGCCAGGCTGGGATGGGGCCCGGGAGACTGGGGCGGGGGTGGGGAAGAGGCACCCAGCCCAGCCGGGTCAAGCAGCCTGGAAGCAGGACATGCTGGGGTGGGGACAGGGCGTCAGCCAGCGGAACAGCAGCCCTGGGCCAGAGTGCAGAGCACAGGAGCCGGCCTTCTCTCAGGGCAAGGAGGTCAGTGGAGGGGGCGAGCAGGACGGCCCCAGGAAGATGGGCGGGCTGCACACATGTGGATGCAGGGGGCAAAGTGGGAGGCATGGGGTGACCAGCTGGGCACAAGGGCACAGACAGGCAGGACCCGGGATGTTCCTGGGGCTGGGCAGGTGGGGCTGCCCCTGCAATGGGCCCAGCAGGGGCGATGCCTCCTGAGAGGAAACCACATCTGGAAATGGGAGGCTTGGGGAACGGGGCTGTCAGCAGCCACGCCCCTCCTGGGGCGGGAGGAGGGGAGCTCAGGGTGTGCTGGGGCGGGCAGAGAAGTGGGTTCCTGCCTGGGGTGGGCAAAGATCCTTGTCCCACCCACACCCCGGCCGTGGTGCTGCCACCCCCTGAGACCCTGACCTAGTTACCCCCTTCCCTGACCCCACTGCAAAGGGTCAGGTGGCTTTCATCTGAGGAAGGGACATCGGGCATCAGCTGGAGATGTCTGCTATGGGCAAGACAGTGGGGGGGGCGGGGCGGATCCTGGGGCCGCTCAGAAACCTGGAGGGGAGTCACCCACTTTTCCTGTGTCCATGGGATGGGCGGGAGGTGAGGGAGCAGCCGCTGGAAGTAACAGTCGCACGCTCACTGCCGACTGGCCAAGCCCAGCGCCGGCGTTTACTTCACCTCAGGGACCCTGCAGTGGGCAGCAGTGACCCTCACAGAGAAGCTGGGAAAGCTGCTGGTGACACACAGCTGGGATCAGCCCTGGGCTGGTGGGACCCCTCACAGAGAAGCCGGGAAAGCTTCTGGTGACACACAGCTGGGATCAGCCCAGGGCTGGTGCGACACCCTGGACTCCCGGCCAGGAAGGCACGGAGGAGGGCATGGGTGTGGCCGGGCCGGGGTGGGGGCTCAGCCTTTGGTCACCAGGGGCGTGATCATCTGTGGGAAGGCGTAGTAGCGGCAGTCGGCCGGTGGGACCAGCGCCATCACCTCCGTACGGATGTTCTCCTTCCCGGAAGCCGGCCTCCAGCAGCGCGGGCACCTGCGTCTCCTGGTCGGGGATGGCACCAGGTCACCTCTGAGGGCCATGGGGGTCACGTGCACCCTGGCGCCCACCCCTCATTGAAGAGTGTTTACAGATGGCAAGGCCCGGGTGGGCGGCTGCAGCTCCCGTGGGCACGTGGCAGGGCAGCCCTGGAAGCCCAGGTGTGAACGGGAATCTCCAGCTCCCCAGTGCGGGCAGCAGCTTCCCGGCTGTCCTGGAACCCCAGCCCCACACTCGAGCCACCCCCGGGCACCTACTCCACAGTTCTCCAGACCTTGCCAGTGTGGCGGGTGGAGCCAAAGAATCACACCAGAAAAAGAACACAGGCCACTAGTTCCCATTTTGGAAGAAAAGCTGCCCCAGGGGCCACAGGCACCCAGCCGGCTCTCACAACAGCAGCCCAGGGCAACCACATAGAGCCCTTCTCAGATAGGCCGCCTCCACCAGGCAGAGGGAACAGCGAGACAAGCACTGCTGAACCAGCAAAGACAGCCAGGTGGAGGCAGCTGGAGGGAGGGGAACACGCAGGGCTTAGGCTGAACCACAGGGCACTGGGGAGCCATGGGAGGTTGTTGAGCTGGTGAGGGACTTTGATTTCCATTTTTTTTGTTTTTGTTTTGTTGAGATGGAGTCTCGGTCTGTTGCCCAGGCTGGAGTACAACGGTGCAATCTCGGCTCACAGCAACCTCCGCCTCCCATGTTCAAGTGATTCTCATGCCTCAGCCTCCCGAGTAGCTGGAATTACAGGCGCCCGCCACCACGCCTGGCTAACTTTTGTATTTTTAGTAGAGATGGGATTCTGCCATGTTGGCCAGGCTAGGCTCAAACTCCTGGGCTCAAGTGATCCACCCGCCTTGGCCTTCCGAAGTGCCGGGATCACAGGTGTGAGCCACCACGCCCAGCCTGATTTCCATTTTTTTTTTAAATTTTCTTTCTTTCTTTCTTTCTTTCTTTTTTCTTGAGACAGGGTCTGGCTCTGTTACCCAGGCTGGAGTGCAGTGGTTCGATCTGGGCTCACTGCAACCTCTGCCCCTGGGGCCCAAGCAATCCTCCTACCTCAGCCTCCCAAGTAGCTGGGAGTACAGGCACACGCCACCACGCCCAGCTAGTTTTTTGTATTTTTTTTTTTTAGGAAAGATGAGGTCTTGCTCTGTAGCCCAGGCTGGTCTTGAACTCCTAGGCTCAAGCAATCTGCCCACCTCGGCCTTCCACAGTGCTGGGATTATAGACCTGAGCCACTGCTCCTGGCAGCCACTGCGCCAGGCAAAGGACTTTGATTTCTAAATGAACCAGCACAGTCCAGCCCACCCAGGGGGTCAGGAAGGGACCCTCCCCAGGTAGCAAGGTGGCTCCAGCAGCCCCTTCCCACCCCCATCCAAGGTCACTTCCTGGAGACCCATGGGGAACTTCAGGTGGGCGCACCTCAAACATGATGGTGATGTCTGAGTACTTGGACTTCATCAGCTCCCCCCAGGAGGTGAGGTTGCAGTAGGTGAGGACGCCCCCCGGCTTCAGCAGGCGAAAGGCGTGGTTCTGTGGAAGGGGAGTGGCCAGTGGTCAGGACGGAGGTGGGGGTGTGGGCAGAGGGGCTTCCCCGAGGGCCTCCCGCATCCCAGCAAGTCAGAGAGAACCACCTTGATGAAGTTGAACTGGTGTGTGTGCCAGGTCTCCTCCGAGAGTGGGTACGTGTCGTACAGGATCCCTGCACGGAGAACAGAAGCCCACGCGGTCAGGGCCGGGCTCAGCGCCTCACCCAGCCTCACCCGGCTCATCCCCCAGCGGGTGGAGGTGCAGTGAGACGGGGCCGTGGGTAGAGGTGGGGCTCCCACACAGGCTTGAGAACCCCGAGATCGCCTCCAGGGCCCCTCCGTGAGCATGCCCATCCCCGGTGCTCCGCCATCCCACAGCCAGGCCCACACCCACTTGGGCTCTGTCCCCCCAGTGCACATCAGAGGGACCCCCACAAGCAAAGGAGGGGCTGCATTGGAGCTGGGGAGGCCCACCCTGTGATA | pathogenic | 293,311 |
The mutation in gene GAMT (guanidinoacetate N-methyltransferase) at chromosome 19, position 1397474—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Deficiency_of_guanidinoacetate_methyltransferase'] | ATCCTGCAGCTGCAGAGGAAGATCAAGCGGGAGCGGAGGCTGCAGATCTGGTACCGCAGGTAGCGCCGCCGCCGCCGCCGCCGGAGCCTGTCGCCGTCCTGTCCCCAGCCTGCTTGTGTCCCGTGAGGTTGTCAATAAACCTGCCCTCGGGCTGCCGCCTCCCAGTGTGGTGTGTGGGTGAAAGGAGCCGGGGACGTGGGGGGATCACAGACCCCCTGCGGCGTGCCGCCCTTGGGCTGGGGGCGGTTGGAGCAGAGCCGGGGGCAGAGACGGGCACTGTGCCTGCCAGCAGGGTCCTTTCCCGCTGCTCTGCGAAGACCCTGGGGTGGACATCGTGGCCCAAAGTCCCGAGCGTGGAAGGCCGCACACCCATCCTTCCTGGGAGGGCCCTGACTCAGTCTCCCTCTATGCCCTAAGGCAGGCTGAGCAAAGCCCGTCTGAGCCTGCCCCGGGGTTCAGAGTGTGGCCTGTGGCCTGCGTGTGGACTTGGGCAGGTCGCCACTGCCCTCTGGCCCATTTCCAGGCGGTGGCATGGGCTGGTTAGCTGAGGGCTGGGGCCAGGGAGATGGGGAGGTGGCACCTGGTCCAAACCAAAGGGCTGCAGGGCAGGACTGTGAGCCTCACAGGCTGTCTGACCCCACTTTGGGGACCCTCTCCACCCAGGGCTTTCGGGGAACCCTGACTCCACCCCACCAGCCCCTTCATCCGTCGAAGTCCAGGCCTCATCAGGGACGTGCATTCATTCAGCAAACGTCCCATCTTCCTGTGTTCAGCGCCAGATGCCGCCGGTGCTGGGACCTCGCTCTGCAGGCCCACCCTGCATGCCTGCTGCACACCAGGGACAGTTCTGGGGATCGGCAGTTATGACGGGCCAGGCTGGGATGGGGCCCGGGAGACTGGGGCGGGGGTGGGGAAGAGGCACCCAGCCCAGCCGGGTCAAGCAGCCTGGAAGCAGGACATGCTGGGGTGGGGACAGGGCGTCAGCCAGCGGAACAGCAGCCCTGGGCCAGAGTGCAGAGCACAGGAGCCGGCCTTCTCTCAGGGCAAGGAGGTCAGTGGAGGGGGCGAGCAGGACGGCCCCAGGAAGATGGGCGGGCTGCACACATGTGGATGCAGGGGGCAAAGTGGGAGGCATGGGGTGACCAGCTGGGCACAAGGGCACAGACAGGCAGGACCCGGGATGTTCCTGGGGCTGGGCAGGTGGGGCTGCCCCTGCAATGGGCCCAGCAGGGGCGATGCCTCCTGAGAGGAAACCACATCTGGAAATGGGAGGCTTGGGGAACGGGGCTGTCAGCAGCCACGCCCCTCCTGGGGCGGGAGGAGGGGAGCTCAGGGTGTGCTGGGGCGGGCAGAGAAGTGGGTTCCTGCCTGGGGTGGGCAAAGATCCTTGTCCCACCCACACCCCGGCCGTGGTGCTGCCACCCCCTGAGACCCTGACCTAGTTACCCCCTTCCCTGACCCCACTGCAAAGGGTCAGGTGGCTTTCATCTGAGGAAGGGACATCGGGCATCAGCTGGAGATGTCTGCTATGGGCAAGACAGTGGGGGGGGCGGGGCGGATCCTGGGGCCGCTCAGAAACCTGGAGGGGAGTCACCCACTTTTCCTGTGTCCATGGGATGGGCGGGAGGTGAGGGAGCAGCCGCTGGAAGTAACAGTCGCACGCTCACTGCCGACTGGCCAAGCCCAGCGCCGGCGTTTACTTCACCTCAGGGACCCTGCAGTGGGCAGCAGTGACCCTCACAGAGAAGCTGGGAAAGCTGCTGGTGACACACAGCTGGGATCAGCCCTGGGCTGGTGGGACCCCTCACAGAGAAGCCGGGAAAGCTTCTGGTGACACACAGCTGGGATCAGCCCAGGGCTGGTGCGACACCCTGGACTCCCGGCCAGGAAGGCACGGAGGAGGGCATGGGTGTGGCCGGGCCGGGGTGGGGGCTCAGCCTTTGGTCACCAGGGGCGTGATCATCTGTGGGAAGGCGTAGTAGCGGCAGTCGGCCGGTGGGACCAGCGCCATCACCTCCGTACGGATGTTCTCCCTCCGGAAGCCGGCCTCCAGCAGCGCGGGCACCTGCGTCTCCTGGTCGGGGATGGCACCAGGTCACCTCTGAGGGCCATGGGGGTCACGTGCACCCTGGCGCCCACCCCTCATTGAAGAGTGTTTACAGATGGCAAGGCCCGGGTGGGCGGCTGCAGCTCCCGTGGGCACGTGGCAGGGCAGCCCTGGAAGCCCAGGTGTGAACGGGAATCTCCAGCTCCCCAGTGCGGGCAGCAGCTTCCCGGCTGTCCTGGAACCCCAGCCCCACACTCGAGCCACCCCCGGGCACCTACTCCACAGTTCTCCAGACCTTGCCAGTGTGGCGGGTGGAGCCAAAGAATCACACCAGAAAAAGAACACAGGCCACTAGTTCCCATTTTGGAAGAAAAGCTGCCCCAGGGGCCACAGGCACCCAGCCGGCTCTCACAACAGCAGCCCAGGGCAACCACATAGAGCCCTTCTCAGATAGGCCGCCTCCACCAGGCAGAGGGAACAGCGAGACAAGCACTGCTGAACCAGCAAAGACAGCCAGGTGGAGGCAGCTGGAGGGAGGGGAACACGCAGGGCTTAGGCTGAACCACAGGGCACTGGGGAGCCATGGGAGGTTGTTGAGCTGGTGAGGGACTTTGATTTCCATTTTTTTTGTTTTTGTTTTGTTGAGATGGAGTCTCGGTCTGTTGCCCAGGCTGGAGTACAACGGTGCAATCTCGGCTCACAGCAACCTCCGCCTCCCATGTTCAAGTGATTCTCATGCCTCAGCCTCCCGAGTAGCTGGAATTACAGGCGCCCGCCACCACGCCTGGCTAACTTTTGTATTTTTAGTAGAGATGGGATTCTGCCATGTTGGCCAGGCTAGGCTCAAACTCCTGGGCTCAAGTGATCCACCCGCCTTGGCCTTCCGAAGTGCCGGGATCACAGGTGTGAGCCACCACGCCCAGCCTGATTTCCATTTTTTTTTTAAATTTTCTTTCTTTCTTTCTTTCTTTCTTTTTTCTTGAGACAGGGTCTGGCTCTGTTACCCAGGCTGGAGTGCAGTGGTTCGATCTGGGCTCACTGCAACCTCTGCCCCTGGGGCCCAAGCAATCCTCCTACCTCAGCCTCCCAAGTAGCTGGGAGTACAGGCACACGCCACCACGCCCAGCTAGTTTTTTGTATTTTTTTTTTTTAGGAAAGATGAGGTCTTGCTCTGTAGCCCAGGCTGGTCTTGAACTCCTAGGCTCAAGCAATCTGCCCACCTCGGCCTTCCACAGTGCTGGGATTATAGACCTGAGCCACTGCTCCTGGCAGCCACTGCGCCAGGCAAAGGACTTTGATTTCTAAATGAACCAGCACAGTCCAGCCCACCCAGGGGGTCAGGAAGGGACCCTCCCCAGGTAGCAAGGTGGCTCCAGCAGCCCCTTCCCACCCCCATCCAAGGTCACTTCCTGGAGACCCATGGGGAACTTCAGGTGGGCGCACCTCAAACATGATGGTGATGTCTGAGTACTTGGACTTCATCAGCTCCCCCCAGGAGGTGAGGTTGCAGTAGGTGAGGACGCCCCCCGGCTTCAGCAGGCGAAAGGCGTGGTTCTGTGGAAGGGGAGTGGCCAGTGGTCAGGACGGAGGTGGGGGTGTGGGCAGAGGGGCTTCCCCGAGGGCCTCCCGCATCCCAGCAAGTCAGAGAGAACCACCTTGATGAAGTTGAACTGGTGTGTGTGCCAGGTCTCCTCCGAGAGTGGGTACGTGTCGTACAGGATCCCTGCACGGAGAACAGAAGCCCACGCGGTCAGGGCCGGGCTCAGCGCCTCACCCAGCCTCACCCGGCTCATCCCCCAGCGGGTGGAGGTGCAGTGAGACGGGGCCGTGGGTAGAGGTGGGGCTCCCACACAGGCTTGAGAACCCCGAGATCGCCTCCAGGGCCCCTCCGTGAGCATGCCCATCCCCGGTGCTCCGCCATCCCACAGCCAGGCCCACACCCACTTGGGCTCTGTCCCCCCAGTGCACATCAGAGGGACCCCCACAAGCAAAGGAGGGGCTGCATTGGAGCTGGGGAGGCCCACCCTGTGATACGTCCCCTCACCCCTC | ATCCTGCAGCTGCAGAGGAAGATCAAGCGGGAGCGGAGGCTGCAGATCTGGTACCGCAGGTAGCGCCGCCGCCGCCGCCGCCGGAGCCTGTCGCCGTCCTGTCCCCAGCCTGCTTGTGTCCCGTGAGGTTGTCAATAAACCTGCCCTCGGGCTGCCGCCTCCCAGTGTGGTGTGTGGGTGAAAGGAGCCGGGGACGTGGGGGGATCACAGACCCCCTGCGGCGTGCCGCCCTTGGGCTGGGGGCGGTTGGAGCAGAGCCGGGGGCAGAGACGGGCACTGTGCCTGCCAGCAGGGTCCTTTCCCGCTGCTCTGCGAAGACCCTGGGGTGGACATCGTGGCCCAAAGTCCCGAGCGTGGAAGGCCGCACACCCATCCTTCCTGGGAGGGCCCTGACTCAGTCTCCCTCTATGCCCTAAGGCAGGCTGAGCAAAGCCCGTCTGAGCCTGCCCCGGGGTTCAGAGTGTGGCCTGTGGCCTGCGTGTGGACTTGGGCAGGTCGCCACTGCCCTCTGGCCCATTTCCAGGCGGTGGCATGGGCTGGTTAGCTGAGGGCTGGGGCCAGGGAGATGGGGAGGTGGCACCTGGTCCAAACCAAAGGGCTGCAGGGCAGGACTGTGAGCCTCACAGGCTGTCTGACCCCACTTTGGGGACCCTCTCCACCCAGGGCTTTCGGGGAACCCTGACTCCACCCCACCAGCCCCTTCATCCGTCGAAGTCCAGGCCTCATCAGGGACGTGCATTCATTCAGCAAACGTCCCATCTTCCTGTGTTCAGCGCCAGATGCCGCCGGTGCTGGGACCTCGCTCTGCAGGCCCACCCTGCATGCCTGCTGCACACCAGGGACAGTTCTGGGGATCGGCAGTTATGACGGGCCAGGCTGGGATGGGGCCCGGGAGACTGGGGCGGGGGTGGGGAAGAGGCACCCAGCCCAGCCGGGTCAAGCAGCCTGGAAGCAGGACATGCTGGGGTGGGGACAGGGCGTCAGCCAGCGGAACAGCAGCCCTGGGCCAGAGTGCAGAGCACAGGAGCCGGCCTTCTCTCAGGGCAAGGAGGTCAGTGGAGGGGGCGAGCAGGACGGCCCCAGGAAGATGGGCGGGCTGCACACATGTGGATGCAGGGGGCAAAGTGGGAGGCATGGGGTGACCAGCTGGGCACAAGGGCACAGACAGGCAGGACCCGGGATGTTCCTGGGGCTGGGCAGGTGGGGCTGCCCCTGCAATGGGCCCAGCAGGGGCGATGCCTCCTGAGAGGAAACCACATCTGGAAATGGGAGGCTTGGGGAACGGGGCTGTCAGCAGCCACGCCCCTCCTGGGGCGGGAGGAGGGGAGCTCAGGGTGTGCTGGGGCGGGCAGAGAAGTGGGTTCCTGCCTGGGGTGGGCAAAGATCCTTGTCCCACCCACACCCCGGCCGTGGTGCTGCCACCCCCTGAGACCCTGACCTAGTTACCCCCTTCCCTGACCCCACTGCAAAGGGTCAGGTGGCTTTCATCTGAGGAAGGGACATCGGGCATCAGCTGGAGATGTCTGCTATGGGCAAGACAGTGGGGGGGGCGGGGCGGATCCTGGGGCCGCTCAGAAACCTGGAGGGGAGTCACCCACTTTTCCTGTGTCCATGGGATGGGCGGGAGGTGAGGGAGCAGCCGCTGGAAGTAACAGTCGCACGCTCACTGCCGACTGGCCAAGCCCAGCGCCGGCGTTTACTTCACCTCAGGGACCCTGCAGTGGGCAGCAGTGACCCTCACAGAGAAGCTGGGAAAGCTGCTGGTGACACACAGCTGGGATCAGCCCTGGGCTGGTGGGACCCCTCACAGAGAAGCCGGGAAAGCTTCTGGTGACACACAGCTGGGATCAGCCCAGGGCTGGTGCGACACCCTGGACTCCCGGCCAGGAAGGCACGGAGGAGGGCATGGGTGTGGCCGGGCCGGGGTGGGGGCTCAGCCTTTGGTCACCAGGGGCGTGATCATCTGTGGGAAGGCGTAGTAGCGGCAGTCGGCCGGTGGGACCAGCGCCATCACCTCCGTACGGATGTTCTCCCTCCGGAAGCCGGCCTCCCAGCAGCGCGGGCACCTGCGTCTCCTGGTCGGGGATGGCACCAGGTCACCTCTGAGGGCCATGGGGGTCACGTGCACCCTGGCGCCCACCCCTCATTGAAGAGTGTTTACAGATGGCAAGGCCCGGGTGGGCGGCTGCAGCTCCCGTGGGCACGTGGCAGGGCAGCCCTGGAAGCCCAGGTGTGAACGGGAATCTCCAGCTCCCCAGTGCGGGCAGCAGCTTCCCGGCTGTCCTGGAACCCCAGCCCCACACTCGAGCCACCCCCGGGCACCTACTCCACAGTTCTCCAGACCTTGCCAGTGTGGCGGGTGGAGCCAAAGAATCACACCAGAAAAAGAACACAGGCCACTAGTTCCCATTTTGGAAGAAAAGCTGCCCCAGGGGCCACAGGCACCCAGCCGGCTCTCACAACAGCAGCCCAGGGCAACCACATAGAGCCCTTCTCAGATAGGCCGCCTCCACCAGGCAGAGGGAACAGCGAGACAAGCACTGCTGAACCAGCAAAGACAGCCAGGTGGAGGCAGCTGGAGGGAGGGGAACACGCAGGGCTTAGGCTGAACCACAGGGCACTGGGGAGCCATGGGAGGTTGTTGAGCTGGTGAGGGACTTTGATTTCCATTTTTTTTGTTTTTGTTTTGTTGAGATGGAGTCTCGGTCTGTTGCCCAGGCTGGAGTACAACGGTGCAATCTCGGCTCACAGCAACCTCCGCCTCCCATGTTCAAGTGATTCTCATGCCTCAGCCTCCCGAGTAGCTGGAATTACAGGCGCCCGCCACCACGCCTGGCTAACTTTTGTATTTTTAGTAGAGATGGGATTCTGCCATGTTGGCCAGGCTAGGCTCAAACTCCTGGGCTCAAGTGATCCACCCGCCTTGGCCTTCCGAAGTGCCGGGATCACAGGTGTGAGCCACCACGCCCAGCCTGATTTCCATTTTTTTTTTAAATTTTCTTTCTTTCTTTCTTTCTTTCTTTTTTCTTGAGACAGGGTCTGGCTCTGTTACCCAGGCTGGAGTGCAGTGGTTCGATCTGGGCTCACTGCAACCTCTGCCCCTGGGGCCCAAGCAATCCTCCTACCTCAGCCTCCCAAGTAGCTGGGAGTACAGGCACACGCCACCACGCCCAGCTAGTTTTTTGTATTTTTTTTTTTTAGGAAAGATGAGGTCTTGCTCTGTAGCCCAGGCTGGTCTTGAACTCCTAGGCTCAAGCAATCTGCCCACCTCGGCCTTCCACAGTGCTGGGATTATAGACCTGAGCCACTGCTCCTGGCAGCCACTGCGCCAGGCAAAGGACTTTGATTTCTAAATGAACCAGCACAGTCCAGCCCACCCAGGGGGTCAGGAAGGGACCCTCCCCAGGTAGCAAGGTGGCTCCAGCAGCCCCTTCCCACCCCCATCCAAGGTCACTTCCTGGAGACCCATGGGGAACTTCAGGTGGGCGCACCTCAAACATGATGGTGATGTCTGAGTACTTGGACTTCATCAGCTCCCCCCAGGAGGTGAGGTTGCAGTAGGTGAGGACGCCCCCCGGCTTCAGCAGGCGAAAGGCGTGGTTCTGTGGAAGGGGAGTGGCCAGTGGTCAGGACGGAGGTGGGGGTGTGGGCAGAGGGGCTTCCCCGAGGGCCTCCCGCATCCCAGCAAGTCAGAGAGAACCACCTTGATGAAGTTGAACTGGTGTGTGTGCCAGGTCTCCTCCGAGAGTGGGTACGTGTCGTACAGGATCCCTGCACGGAGAACAGAAGCCCACGCGGTCAGGGCCGGGCTCAGCGCCTCACCCAGCCTCACCCGGCTCATCCCCCAGCGGGTGGAGGTGCAGTGAGACGGGGCCGTGGGTAGAGGTGGGGCTCCCACACAGGCTTGAGAACCCCGAGATCGCCTCCAGGGCCCCTCCGTGAGCATGCCCATCCCCGGTGCTCCGCCATCCCACAGCCAGGCCCACACCCACTTGGGCTCTGTCCCCCCAGTGCACATCAGAGGGACCCCCACAAGCAAAGGAGGGGCTGCATTGGAGCTGGGGAGGCCCACCCTGTGATACGTCCCCTCACCCCT | pathogenic | 293,313 |
Does the variant on chromosome 19 at location 1398959 affecting gene GAMT (guanidinoacetate N-methyltransferase) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Cerebral_creatine_deficiency_syndrome', 'Deficiency_of_guanidinoacetate_methyltransferase'] | CATCTGAGGAAGGGACATCGGGCATCAGCTGGAGATGTCTGCTATGGGCAAGACAGTGGGGGGGGCGGGGCGGATCCTGGGGCCGCTCAGAAACCTGGAGGGGAGTCACCCACTTTTCCTGTGTCCATGGGATGGGCGGGAGGTGAGGGAGCAGCCGCTGGAAGTAACAGTCGCACGCTCACTGCCGACTGGCCAAGCCCAGCGCCGGCGTTTACTTCACCTCAGGGACCCTGCAGTGGGCAGCAGTGACCCTCACAGAGAAGCTGGGAAAGCTGCTGGTGACACACAGCTGGGATCAGCCCTGGGCTGGTGGGACCCCTCACAGAGAAGCCGGGAAAGCTTCTGGTGACACACAGCTGGGATCAGCCCAGGGCTGGTGCGACACCCTGGACTCCCGGCCAGGAAGGCACGGAGGAGGGCATGGGTGTGGCCGGGCCGGGGTGGGGGCTCAGCCTTTGGTCACCAGGGGCGTGATCATCTGTGGGAAGGCGTAGTAGCGGCAGTCGGCCGGTGGGACCAGCGCCATCACCTCCGTACGGATGTTCTCCCTCCGGAAGCCGGCCTCCAGCAGCGCGGGCACCTGCGTCTCCTGGTCGGGGATGGCACCAGGTCACCTCTGAGGGCCATGGGGGTCACGTGCACCCTGGCGCCCACCCCTCATTGAAGAGTGTTTACAGATGGCAAGGCCCGGGTGGGCGGCTGCAGCTCCCGTGGGCACGTGGCAGGGCAGCCCTGGAAGCCCAGGTGTGAACGGGAATCTCCAGCTCCCCAGTGCGGGCAGCAGCTTCCCGGCTGTCCTGGAACCCCAGCCCCACACTCGAGCCACCCCCGGGCACCTACTCCACAGTTCTCCAGACCTTGCCAGTGTGGCGGGTGGAGCCAAAGAATCACACCAGAAAAAGAACACAGGCCACTAGTTCCCATTTTGGAAGAAAAGCTGCCCCAGGGGCCACAGGCACCCAGCCGGCTCTCACAACAGCAGCCCAGGGCAACCACATAGAGCCCTTCTCAGATAGGCCGCCTCCACCAGGCAGAGGGAACAGCGAGACAAGCACTGCTGAACCAGCAAAGACAGCCAGGTGGAGGCAGCTGGAGGGAGGGGAACACGCAGGGCTTAGGCTGAACCACAGGGCACTGGGGAGCCATGGGAGGTTGTTGAGCTGGTGAGGGACTTTGATTTCCATTTTTTTTGTTTTTGTTTTGTTGAGATGGAGTCTCGGTCTGTTGCCCAGGCTGGAGTACAACGGTGCAATCTCGGCTCACAGCAACCTCCGCCTCCCATGTTCAAGTGATTCTCATGCCTCAGCCTCCCGAGTAGCTGGAATTACAGGCGCCCGCCACCACGCCTGGCTAACTTTTGTATTTTTAGTAGAGATGGGATTCTGCCATGTTGGCCAGGCTAGGCTCAAACTCCTGGGCTCAAGTGATCCACCCGCCTTGGCCTTCCGAAGTGCCGGGATCACAGGTGTGAGCCACCACGCCCAGCCTGATTTCCATTTTTTTTTTAAATTTTCTTTCTTTCTTTCTTTCTTTCTTTTTTCTTGAGACAGGGTCTGGCTCTGTTACCCAGGCTGGAGTGCAGTGGTTCGATCTGGGCTCACTGCAACCTCTGCCCCTGGGGCCCAAGCAATCCTCCTACCTCAGCCTCCCAAGTAGCTGGGAGTACAGGCACACGCCACCACGCCCAGCTAGTTTTTTGTATTTTTTTTTTTTAGGAAAGATGAGGTCTTGCTCTGTAGCCCAGGCTGGTCTTGAACTCCTAGGCTCAAGCAATCTGCCCACCTCGGCCTTCCACAGTGCTGGGATTATAGACCTGAGCCACTGCTCCTGGCAGCCACTGCGCCAGGCAAAGGACTTTGATTTCTAAATGAACCAGCACAGTCCAGCCCACCCAGGGGGTCAGGAAGGGACCCTCCCCAGGTAGCAAGGTGGCTCCAGCAGCCCCTTCCCACCCCCATCCAAGGTCACTTCCTGGAGACCCATGGGGAACTTCAGGTGGGCGCACCTCAAACATGATGGTGATGTCTGAGTACTTGGACTTCATCAGCTCCCCCCAGGAGGTGAGGTTGCAGTAGGTGAGGACGCCCCCCGGCTTCAGCAGGCGAAAGGCGTGGTTCTGTGGAAGGGGAGTGGCCAGTGGTCAGGACGGAGGTGGGGGTGTGGGCAGAGGGGCTTCCCCGAGGGCCTCCCGCATCCCAGCAAGTCAGAGAGAACCACCTTGATGAAGTTGAACTGGTGTGTGTGCCAGGTCTCCTCCGAGAGTGGGTACGTGTCGTACAGGATCCCTGCACGGAGAACAGAAGCCCACGCGGTCAGGGCCGGGCTCAGCGCCTCACCCAGCCTCACCCGGCTCATCCCCCAGCGGGTGGAGGTGCAGTGAGACGGGGCCGTGGGTAGAGGTGGGGCTCCCACACAGGCTTGAGAACCCCGAGATCGCCTCCAGGGCCCCTCCGTGAGCATGCCCATCCCCGGTGCTCCGCCATCCCACAGCCAGGCCCACACCCACTTGGGCTCTGTCCCCCCAGTGCACATCAGAGGGACCCCCACAAGCAAAGGAGGGGCTGCATTGGAGCTGGGGAGGCCCACCCTGTGATACGTCCCCTCACCCCTCACCATCAAAGTGACCGTCAGGCAGGGTGGGTGCCACATCCTCCCACAGGCCTTTCAAGGGGATGACCTTGCAGAGGGGAAAAGAAAAAGAGAGGACAGGGTAGAGAGGTCCCCAGGATCTCCCCACCTGCAGAAAGGGAGCGGCCAGGGGGACTCCCGAGAGAGAAGACCACCTCCTCCACCTCTGACAGCCCCAGGCCCCCAACCCCCAGGAAGCAGTGCCCTCACCCCAAGGAGTGGGGGTCCTGGAGGGCCTGCGGGCAGAGGGGCACCTTGTGTGTCTGCCGTGGGGCCCAGTCCCGGAGCCGCTGGAAGACGCCGTCATTGCACTCGATGATCCAATGCTCATCAATGGGCGCCTCCTGCACCTTTGACGCTGCGATGGCCATGCCAAAGCCCACCTCCAGGACCCGGCCCCCTGGGCAGACACAGGGCGCCTGGCATCACTAGGTGGGGCGGGCTTAGGAGGCTGCCTGGAGGAGGGGCACAGGGCAGGGCAGGGCTGGGGAGACTGCCTGGAGGAGGGGGCGCAGGGCTGGGCTGGGGGTCTGCCTGGAGGGGGGCGTGCAGAGCAGGGCTGGAGAGGCTGCCTGGAGGAGGGGGTGTGGGGCAATGCTGGGGAGGCTGCCTGGAGGAGGGGGTGCGGGGCAGGGCTGGAGAGGCTGCCAGGAGGAGGGGATGCAGGGCTGGGGAGGCTGTCTGGAAGAGGGGGTGCAGAGCAGGGCTGGGGAGGCTTCCTGGAGGAGGGGGCACAGGGTAGGGCAGGGCTGAGCTGGGGGTCTGCTTGGAGGAGGGGGTGCAGGGCTGAACTAGGCTATGTGAGTCACATTTGCCACAGGACGGGAGGGCACCCTGGGCCAGCATGGACAGAGGCGGGCGGAACACAGTAGTCCTGAGCGGGAACAGCGTGGGCCCTGGCCAGCGGCCAGAGAGAGGATGACCAGCCAGGGAGGCCGAAGACGGCCGCTTTTGGGGCCAGGCCTGTGGGGAGGCGAGAGCCTTGGACTTTGAGCCCAGCCCACGCTGTTTGTCCCGGGTCCCTTATCTCTCGGGTTAGTTACTTTTCTCTCCCCCTCCCTCTATCCGAAAGTTGGATTTGCAAGAGTGGCCAGGCAAGACCTGGACTTGAGACTATCTGGGAGGGGAAGGACTGGTCCCCAGTGGGCCACACATGGGCCCCCCGCTCAATCCTGATTGGCACTGGACACTGGACGTGCCCATTTTCAGGGTGGGAACACTGAGGCCCGACCCCTGGACGGGGCCTGTGTGGGGCCAGGGAGTCCTTTCTTAGCAGCCCTTAGCGTCTGACGCCAGGCAGGCCAGGGCCACCCCGGGGACAGCTGTCTCCCTGAGCTCAGCTTTCCGAGTGCTATTCTTAGCCGGGCGAGTCGGGGCTGCTCTCCCAGGCAGGCAGAAGGGCAGCCTCTCCCTGGCACGACCCCTTCCTCCCGACCTCAGACAGGGAGCTGGGGACCCGGTTCCACCC | CATCTGAGGAAGGGACATCGGGCATCAGCTGGAGATGTCTGCTATGGGCAAGACAGTGGGGGGGGCGGGGCGGATCCTGGGGCCGCTCAGAAACCTGGAGGGGAGTCACCCACTTTTCCTGTGTCCATGGGATGGGCGGGAGGTGAGGGAGCAGCCGCTGGAAGTAACAGTCGCACGCTCACTGCCGACTGGCCAAGCCCAGCGCCGGCGTTTACTTCACCTCAGGGACCCTGCAGTGGGCAGCAGTGACCCTCACAGAGAAGCTGGGAAAGCTGCTGGTGACACACAGCTGGGATCAGCCCTGGGCTGGTGGGACCCCTCACAGAGAAGCCGGGAAAGCTTCTGGTGACACACAGCTGGGATCAGCCCAGGGCTGGTGCGACACCCTGGACTCCCGGCCAGGAAGGCACGGAGGAGGGCATGGGTGTGGCCGGGCCGGGGTGGGGGCTCAGCCTTTGGTCACCAGGGGCGTGATCATCTGTGGGAAGGCGTAGTAGCGGCAGTCGGCCGGTGGGACCAGCGCCATCACCTCCGTACGGATGTTCTCCCTCCGGAAGCCGGCCTCCAGCAGCGCGGGCACCTGCGTCTCCTGGTCGGGGATGGCACCAGGTCACCTCTGAGGGCCATGGGGGTCACGTGCACCCTGGCGCCCACCCCTCATTGAAGAGTGTTTACAGATGGCAAGGCCCGGGTGGGCGGCTGCAGCTCCCGTGGGCACGTGGCAGGGCAGCCCTGGAAGCCCAGGTGTGAACGGGAATCTCCAGCTCCCCAGTGCGGGCAGCAGCTTCCCGGCTGTCCTGGAACCCCAGCCCCACACTCGAGCCACCCCCGGGCACCTACTCCACAGTTCTCCAGACCTTGCCAGTGTGGCGGGTGGAGCCAAAGAATCACACCAGAAAAAGAACACAGGCCACTAGTTCCCATTTTGGAAGAAAAGCTGCCCCAGGGGCCACAGGCACCCAGCCGGCTCTCACAACAGCAGCCCAGGGCAACCACATAGAGCCCTTCTCAGATAGGCCGCCTCCACCAGGCAGAGGGAACAGCGAGACAAGCACTGCTGAACCAGCAAAGACAGCCAGGTGGAGGCAGCTGGAGGGAGGGGAACACGCAGGGCTTAGGCTGAACCACAGGGCACTGGGGAGCCATGGGAGGTTGTTGAGCTGGTGAGGGACTTTGATTTCCATTTTTTTTGTTTTTGTTTTGTTGAGATGGAGTCTCGGTCTGTTGCCCAGGCTGGAGTACAACGGTGCAATCTCGGCTCACAGCAACCTCCGCCTCCCATGTTCAAGTGATTCTCATGCCTCAGCCTCCCGAGTAGCTGGAATTACAGGCGCCCGCCACCACGCCTGGCTAACTTTTGTATTTTTAGTAGAGATGGGATTCTGCCATGTTGGCCAGGCTAGGCTCAAACTCCTGGGCTCAAGTGATCCACCCGCCTTGGCCTTCCGAAGTGCCGGGATCACAGGTGTGAGCCACCACGCCCAGCCTGATTTCCATTTTTTTTTTAAATTTTCTTTCTTTCTTTCTTTCTTTCTTTTTTCTTGAGACAGGGTCTGGCTCTGTTACCCAGGCTGGAGTGCAGTGGTTCGATCTGGGCTCACTGCAACCTCTGCCCCTGGGGCCCAAGCAATCCTCCTACCTCAGCCTCCCAAGTAGCTGGGAGTACAGGCACACGCCACCACGCCCAGCTAGTTTTTTGTATTTTTTTTTTTTAGGAAAGATGAGGTCTTGCTCTGTAGCCCAGGCTGGTCTTGAACTCCTAGGCTCAAGCAATCTGCCCACCTCGGCCTTCCACAGTGCTGGGATTATAGACCTGAGCCACTGCTCCTGGCAGCCACTGCGCCAGGCAAAGGACTTTGATTTCTAAATGAACCAGCACAGTCCAGCCCACCCAGGGGGTCAGGAAGGGACCCTCCCCAGGTAGCAAGGTGGCTCCAGCAGCCCCTTCCCACCCCCATCCAAGGTCACTTCCTGGAGACCCATGGGGAACTTCAGGTGGGCGCACCTCAAACATGATGGTGATGTCTGAGTACTTGGACTTCATCAGCTCCCCCCCAGGAGGTGAGGTTGCAGTAGGTGAGGACGCCCCCCGGCTTCAGCAGGCGAAAGGCGTGGTTCTGTGGAAGGGGAGTGGCCAGTGGTCAGGACGGAGGTGGGGGTGTGGGCAGAGGGGCTTCCCCGAGGGCCTCCCGCATCCCAGCAAGTCAGAGAGAACCACCTTGATGAAGTTGAACTGGTGTGTGTGCCAGGTCTCCTCCGAGAGTGGGTACGTGTCGTACAGGATCCCTGCACGGAGAACAGAAGCCCACGCGGTCAGGGCCGGGCTCAGCGCCTCACCCAGCCTCACCCGGCTCATCCCCCAGCGGGTGGAGGTGCAGTGAGACGGGGCCGTGGGTAGAGGTGGGGCTCCCACACAGGCTTGAGAACCCCGAGATCGCCTCCAGGGCCCCTCCGTGAGCATGCCCATCCCCGGTGCTCCGCCATCCCACAGCCAGGCCCACACCCACTTGGGCTCTGTCCCCCCAGTGCACATCAGAGGGACCCCCACAAGCAAAGGAGGGGCTGCATTGGAGCTGGGGAGGCCCACCCTGTGATACGTCCCCTCACCCCTCACCATCAAAGTGACCGTCAGGCAGGGTGGGTGCCACATCCTCCCACAGGCCTTTCAAGGGGATGACCTTGCAGAGGGGAAAAGAAAAAGAGAGGACAGGGTAGAGAGGTCCCCAGGATCTCCCCACCTGCAGAAAGGGAGCGGCCAGGGGGACTCCCGAGAGAGAAGACCACCTCCTCCACCTCTGACAGCCCCAGGCCCCCAACCCCCAGGAAGCAGTGCCCTCACCCCAAGGAGTGGGGGTCCTGGAGGGCCTGCGGGCAGAGGGGCACCTTGTGTGTCTGCCGTGGGGCCCAGTCCCGGAGCCGCTGGAAGACGCCGTCATTGCACTCGATGATCCAATGCTCATCAATGGGCGCCTCCTGCACCTTTGACGCTGCGATGGCCATGCCAAAGCCCACCTCCAGGACCCGGCCCCCTGGGCAGACACAGGGCGCCTGGCATCACTAGGTGGGGCGGGCTTAGGAGGCTGCCTGGAGGAGGGGCACAGGGCAGGGCAGGGCTGGGGAGACTGCCTGGAGGAGGGGGCGCAGGGCTGGGCTGGGGGTCTGCCTGGAGGGGGGCGTGCAGAGCAGGGCTGGAGAGGCTGCCTGGAGGAGGGGGTGTGGGGCAATGCTGGGGAGGCTGCCTGGAGGAGGGGGTGCGGGGCAGGGCTGGAGAGGCTGCCAGGAGGAGGGGATGCAGGGCTGGGGAGGCTGTCTGGAAGAGGGGGTGCAGAGCAGGGCTGGGGAGGCTTCCTGGAGGAGGGGGCACAGGGTAGGGCAGGGCTGAGCTGGGGGTCTGCTTGGAGGAGGGGGTGCAGGGCTGAACTAGGCTATGTGAGTCACATTTGCCACAGGACGGGAGGGCACCCTGGGCCAGCATGGACAGAGGCGGGCGGAACACAGTAGTCCTGAGCGGGAACAGCGTGGGCCCTGGCCAGCGGCCAGAGAGAGGATGACCAGCCAGGGAGGCCGAAGACGGCCGCTTTTGGGGCCAGGCCTGTGGGGAGGCGAGAGCCTTGGACTTTGAGCCCAGCCCACGCTGTTTGTCCCGGGTCCCTTATCTCTCGGGTTAGTTACTTTTCTCTCCCCCTCCCTCTATCCGAAAGTTGGATTTGCAAGAGTGGCCAGGCAAGACCTGGACTTGAGACTATCTGGGAGGGGAAGGACTGGTCCCCAGTGGGCCACACATGGGCCCCCCGCTCAATCCTGATTGGCACTGGACACTGGACGTGCCCATTTTCAGGGTGGGAACACTGAGGCCCGACCCCTGGACGGGGCCTGTGTGGGGCCAGGGAGTCCTTTCTTAGCAGCCCTTAGCGTCTGACGCCAGGCAGGCCAGGGCCACCCCGGGGACAGCTGTCTCCCTGAGCTCAGCTTTCCGAGTGCTATTCTTAGCCGGGCGAGTCGGGGCTGCTCTCCCAGGCAGGCAGAAGGGCAGCCTCTCCCTGGCACGACCCCTTCCTCCCGACCTCAGACAGGGAGCTGGGGACCCGGTTCCACC | pathogenic | 293,328 |
Gene GAMT (guanidinoacetate N-methyltransferase) variant at chromosome position 1398959 on chromosome 19: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Cerebral_creatine_deficiency_syndrome', 'Deficiency_of_guanidinoacetate_methyltransferase'] | CATCTGAGGAAGGGACATCGGGCATCAGCTGGAGATGTCTGCTATGGGCAAGACAGTGGGGGGGGCGGGGCGGATCCTGGGGCCGCTCAGAAACCTGGAGGGGAGTCACCCACTTTTCCTGTGTCCATGGGATGGGCGGGAGGTGAGGGAGCAGCCGCTGGAAGTAACAGTCGCACGCTCACTGCCGACTGGCCAAGCCCAGCGCCGGCGTTTACTTCACCTCAGGGACCCTGCAGTGGGCAGCAGTGACCCTCACAGAGAAGCTGGGAAAGCTGCTGGTGACACACAGCTGGGATCAGCCCTGGGCTGGTGGGACCCCTCACAGAGAAGCCGGGAAAGCTTCTGGTGACACACAGCTGGGATCAGCCCAGGGCTGGTGCGACACCCTGGACTCCCGGCCAGGAAGGCACGGAGGAGGGCATGGGTGTGGCCGGGCCGGGGTGGGGGCTCAGCCTTTGGTCACCAGGGGCGTGATCATCTGTGGGAAGGCGTAGTAGCGGCAGTCGGCCGGTGGGACCAGCGCCATCACCTCCGTACGGATGTTCTCCCTCCGGAAGCCGGCCTCCAGCAGCGCGGGCACCTGCGTCTCCTGGTCGGGGATGGCACCAGGTCACCTCTGAGGGCCATGGGGGTCACGTGCACCCTGGCGCCCACCCCTCATTGAAGAGTGTTTACAGATGGCAAGGCCCGGGTGGGCGGCTGCAGCTCCCGTGGGCACGTGGCAGGGCAGCCCTGGAAGCCCAGGTGTGAACGGGAATCTCCAGCTCCCCAGTGCGGGCAGCAGCTTCCCGGCTGTCCTGGAACCCCAGCCCCACACTCGAGCCACCCCCGGGCACCTACTCCACAGTTCTCCAGACCTTGCCAGTGTGGCGGGTGGAGCCAAAGAATCACACCAGAAAAAGAACACAGGCCACTAGTTCCCATTTTGGAAGAAAAGCTGCCCCAGGGGCCACAGGCACCCAGCCGGCTCTCACAACAGCAGCCCAGGGCAACCACATAGAGCCCTTCTCAGATAGGCCGCCTCCACCAGGCAGAGGGAACAGCGAGACAAGCACTGCTGAACCAGCAAAGACAGCCAGGTGGAGGCAGCTGGAGGGAGGGGAACACGCAGGGCTTAGGCTGAACCACAGGGCACTGGGGAGCCATGGGAGGTTGTTGAGCTGGTGAGGGACTTTGATTTCCATTTTTTTTGTTTTTGTTTTGTTGAGATGGAGTCTCGGTCTGTTGCCCAGGCTGGAGTACAACGGTGCAATCTCGGCTCACAGCAACCTCCGCCTCCCATGTTCAAGTGATTCTCATGCCTCAGCCTCCCGAGTAGCTGGAATTACAGGCGCCCGCCACCACGCCTGGCTAACTTTTGTATTTTTAGTAGAGATGGGATTCTGCCATGTTGGCCAGGCTAGGCTCAAACTCCTGGGCTCAAGTGATCCACCCGCCTTGGCCTTCCGAAGTGCCGGGATCACAGGTGTGAGCCACCACGCCCAGCCTGATTTCCATTTTTTTTTTAAATTTTCTTTCTTTCTTTCTTTCTTTCTTTTTTCTTGAGACAGGGTCTGGCTCTGTTACCCAGGCTGGAGTGCAGTGGTTCGATCTGGGCTCACTGCAACCTCTGCCCCTGGGGCCCAAGCAATCCTCCTACCTCAGCCTCCCAAGTAGCTGGGAGTACAGGCACACGCCACCACGCCCAGCTAGTTTTTTGTATTTTTTTTTTTTAGGAAAGATGAGGTCTTGCTCTGTAGCCCAGGCTGGTCTTGAACTCCTAGGCTCAAGCAATCTGCCCACCTCGGCCTTCCACAGTGCTGGGATTATAGACCTGAGCCACTGCTCCTGGCAGCCACTGCGCCAGGCAAAGGACTTTGATTTCTAAATGAACCAGCACAGTCCAGCCCACCCAGGGGGTCAGGAAGGGACCCTCCCCAGGTAGCAAGGTGGCTCCAGCAGCCCCTTCCCACCCCCATCCAAGGTCACTTCCTGGAGACCCATGGGGAACTTCAGGTGGGCGCACCTCAAACATGATGGTGATGTCTGAGTACTTGGACTTCATCAGCTCCCCCCAGGAGGTGAGGTTGCAGTAGGTGAGGACGCCCCCCGGCTTCAGCAGGCGAAAGGCGTGGTTCTGTGGAAGGGGAGTGGCCAGTGGTCAGGACGGAGGTGGGGGTGTGGGCAGAGGGGCTTCCCCGAGGGCCTCCCGCATCCCAGCAAGTCAGAGAGAACCACCTTGATGAAGTTGAACTGGTGTGTGTGCCAGGTCTCCTCCGAGAGTGGGTACGTGTCGTACAGGATCCCTGCACGGAGAACAGAAGCCCACGCGGTCAGGGCCGGGCTCAGCGCCTCACCCAGCCTCACCCGGCTCATCCCCCAGCGGGTGGAGGTGCAGTGAGACGGGGCCGTGGGTAGAGGTGGGGCTCCCACACAGGCTTGAGAACCCCGAGATCGCCTCCAGGGCCCCTCCGTGAGCATGCCCATCCCCGGTGCTCCGCCATCCCACAGCCAGGCCCACACCCACTTGGGCTCTGTCCCCCCAGTGCACATCAGAGGGACCCCCACAAGCAAAGGAGGGGCTGCATTGGAGCTGGGGAGGCCCACCCTGTGATACGTCCCCTCACCCCTCACCATCAAAGTGACCGTCAGGCAGGGTGGGTGCCACATCCTCCCACAGGCCTTTCAAGGGGATGACCTTGCAGAGGGGAAAAGAAAAAGAGAGGACAGGGTAGAGAGGTCCCCAGGATCTCCCCACCTGCAGAAAGGGAGCGGCCAGGGGGACTCCCGAGAGAGAAGACCACCTCCTCCACCTCTGACAGCCCCAGGCCCCCAACCCCCAGGAAGCAGTGCCCTCACCCCAAGGAGTGGGGGTCCTGGAGGGCCTGCGGGCAGAGGGGCACCTTGTGTGTCTGCCGTGGGGCCCAGTCCCGGAGCCGCTGGAAGACGCCGTCATTGCACTCGATGATCCAATGCTCATCAATGGGCGCCTCCTGCACCTTTGACGCTGCGATGGCCATGCCAAAGCCCACCTCCAGGACCCGGCCCCCTGGGCAGACACAGGGCGCCTGGCATCACTAGGTGGGGCGGGCTTAGGAGGCTGCCTGGAGGAGGGGCACAGGGCAGGGCAGGGCTGGGGAGACTGCCTGGAGGAGGGGGCGCAGGGCTGGGCTGGGGGTCTGCCTGGAGGGGGGCGTGCAGAGCAGGGCTGGAGAGGCTGCCTGGAGGAGGGGGTGTGGGGCAATGCTGGGGAGGCTGCCTGGAGGAGGGGGTGCGGGGCAGGGCTGGAGAGGCTGCCAGGAGGAGGGGATGCAGGGCTGGGGAGGCTGTCTGGAAGAGGGGGTGCAGAGCAGGGCTGGGGAGGCTTCCTGGAGGAGGGGGCACAGGGTAGGGCAGGGCTGAGCTGGGGGTCTGCTTGGAGGAGGGGGTGCAGGGCTGAACTAGGCTATGTGAGTCACATTTGCCACAGGACGGGAGGGCACCCTGGGCCAGCATGGACAGAGGCGGGCGGAACACAGTAGTCCTGAGCGGGAACAGCGTGGGCCCTGGCCAGCGGCCAGAGAGAGGATGACCAGCCAGGGAGGCCGAAGACGGCCGCTTTTGGGGCCAGGCCTGTGGGGAGGCGAGAGCCTTGGACTTTGAGCCCAGCCCACGCTGTTTGTCCCGGGTCCCTTATCTCTCGGGTTAGTTACTTTTCTCTCCCCCTCCCTCTATCCGAAAGTTGGATTTGCAAGAGTGGCCAGGCAAGACCTGGACTTGAGACTATCTGGGAGGGGAAGGACTGGTCCCCAGTGGGCCACACATGGGCCCCCCGCTCAATCCTGATTGGCACTGGACACTGGACGTGCCCATTTTCAGGGTGGGAACACTGAGGCCCGACCCCTGGACGGGGCCTGTGTGGGGCCAGGGAGTCCTTTCTTAGCAGCCCTTAGCGTCTGACGCCAGGCAGGCCAGGGCCACCCCGGGGACAGCTGTCTCCCTGAGCTCAGCTTTCCGAGTGCTATTCTTAGCCGGGCGAGTCGGGGCTGCTCTCCCAGGCAGGCAGAAGGGCAGCCTCTCCCTGGCACGACCCCTTCCTCCCGACCTCAGACAGGGAGCTGGGGACCCGGTTCCACCC | CATCTGAGGAAGGGACATCGGGCATCAGCTGGAGATGTCTGCTATGGGCAAGACAGTGGGGGGGGCGGGGCGGATCCTGGGGCCGCTCAGAAACCTGGAGGGGAGTCACCCACTTTTCCTGTGTCCATGGGATGGGCGGGAGGTGAGGGAGCAGCCGCTGGAAGTAACAGTCGCACGCTCACTGCCGACTGGCCAAGCCCAGCGCCGGCGTTTACTTCACCTCAGGGACCCTGCAGTGGGCAGCAGTGACCCTCACAGAGAAGCTGGGAAAGCTGCTGGTGACACACAGCTGGGATCAGCCCTGGGCTGGTGGGACCCCTCACAGAGAAGCCGGGAAAGCTTCTGGTGACACACAGCTGGGATCAGCCCAGGGCTGGTGCGACACCCTGGACTCCCGGCCAGGAAGGCACGGAGGAGGGCATGGGTGTGGCCGGGCCGGGGTGGGGGCTCAGCCTTTGGTCACCAGGGGCGTGATCATCTGTGGGAAGGCGTAGTAGCGGCAGTCGGCCGGTGGGACCAGCGCCATCACCTCCGTACGGATGTTCTCCCTCCGGAAGCCGGCCTCCAGCAGCGCGGGCACCTGCGTCTCCTGGTCGGGGATGGCACCAGGTCACCTCTGAGGGCCATGGGGGTCACGTGCACCCTGGCGCCCACCCCTCATTGAAGAGTGTTTACAGATGGCAAGGCCCGGGTGGGCGGCTGCAGCTCCCGTGGGCACGTGGCAGGGCAGCCCTGGAAGCCCAGGTGTGAACGGGAATCTCCAGCTCCCCAGTGCGGGCAGCAGCTTCCCGGCTGTCCTGGAACCCCAGCCCCACACTCGAGCCACCCCCGGGCACCTACTCCACAGTTCTCCAGACCTTGCCAGTGTGGCGGGTGGAGCCAAAGAATCACACCAGAAAAAGAACACAGGCCACTAGTTCCCATTTTGGAAGAAAAGCTGCCCCAGGGGCCACAGGCACCCAGCCGGCTCTCACAACAGCAGCCCAGGGCAACCACATAGAGCCCTTCTCAGATAGGCCGCCTCCACCAGGCAGAGGGAACAGCGAGACAAGCACTGCTGAACCAGCAAAGACAGCCAGGTGGAGGCAGCTGGAGGGAGGGGAACACGCAGGGCTTAGGCTGAACCACAGGGCACTGGGGAGCCATGGGAGGTTGTTGAGCTGGTGAGGGACTTTGATTTCCATTTTTTTTGTTTTTGTTTTGTTGAGATGGAGTCTCGGTCTGTTGCCCAGGCTGGAGTACAACGGTGCAATCTCGGCTCACAGCAACCTCCGCCTCCCATGTTCAAGTGATTCTCATGCCTCAGCCTCCCGAGTAGCTGGAATTACAGGCGCCCGCCACCACGCCTGGCTAACTTTTGTATTTTTAGTAGAGATGGGATTCTGCCATGTTGGCCAGGCTAGGCTCAAACTCCTGGGCTCAAGTGATCCACCCGCCTTGGCCTTCCGAAGTGCCGGGATCACAGGTGTGAGCCACCACGCCCAGCCTGATTTCCATTTTTTTTTTAAATTTTCTTTCTTTCTTTCTTTCTTTCTTTTTTCTTGAGACAGGGTCTGGCTCTGTTACCCAGGCTGGAGTGCAGTGGTTCGATCTGGGCTCACTGCAACCTCTGCCCCTGGGGCCCAAGCAATCCTCCTACCTCAGCCTCCCAAGTAGCTGGGAGTACAGGCACACGCCACCACGCCCAGCTAGTTTTTTGTATTTTTTTTTTTTAGGAAAGATGAGGTCTTGCTCTGTAGCCCAGGCTGGTCTTGAACTCCTAGGCTCAAGCAATCTGCCCACCTCGGCCTTCCACAGTGCTGGGATTATAGACCTGAGCCACTGCTCCTGGCAGCCACTGCGCCAGGCAAAGGACTTTGATTTCTAAATGAACCAGCACAGTCCAGCCCACCCAGGGGGTCAGGAAGGGACCCTCCCCAGGTAGCAAGGTGGCTCCAGCAGCCCCTTCCCACCCCCATCCAAGGTCACTTCCTGGAGACCCATGGGGAACTTCAGGTGGGCGCACCTCAAACATGATGGTGATGTCTGAGTACTTGGACTTCATCAGCTCCCCCAGGAGGTGAGGTTGCAGTAGGTGAGGACGCCCCCCGGCTTCAGCAGGCGAAAGGCGTGGTTCTGTGGAAGGGGAGTGGCCAGTGGTCAGGACGGAGGTGGGGGTGTGGGCAGAGGGGCTTCCCCGAGGGCCTCCCGCATCCCAGCAAGTCAGAGAGAACCACCTTGATGAAGTTGAACTGGTGTGTGTGCCAGGTCTCCTCCGAGAGTGGGTACGTGTCGTACAGGATCCCTGCACGGAGAACAGAAGCCCACGCGGTCAGGGCCGGGCTCAGCGCCTCACCCAGCCTCACCCGGCTCATCCCCCAGCGGGTGGAGGTGCAGTGAGACGGGGCCGTGGGTAGAGGTGGGGCTCCCACACAGGCTTGAGAACCCCGAGATCGCCTCCAGGGCCCCTCCGTGAGCATGCCCATCCCCGGTGCTCCGCCATCCCACAGCCAGGCCCACACCCACTTGGGCTCTGTCCCCCCAGTGCACATCAGAGGGACCCCCACAAGCAAAGGAGGGGCTGCATTGGAGCTGGGGAGGCCCACCCTGTGATACGTCCCCTCACCCCTCACCATCAAAGTGACCGTCAGGCAGGGTGGGTGCCACATCCTCCCACAGGCCTTTCAAGGGGATGACCTTGCAGAGGGGAAAAGAAAAAGAGAGGACAGGGTAGAGAGGTCCCCAGGATCTCCCCACCTGCAGAAAGGGAGCGGCCAGGGGGACTCCCGAGAGAGAAGACCACCTCCTCCACCTCTGACAGCCCCAGGCCCCCAACCCCCAGGAAGCAGTGCCCTCACCCCAAGGAGTGGGGGTCCTGGAGGGCCTGCGGGCAGAGGGGCACCTTGTGTGTCTGCCGTGGGGCCCAGTCCCGGAGCCGCTGGAAGACGCCGTCATTGCACTCGATGATCCAATGCTCATCAATGGGCGCCTCCTGCACCTTTGACGCTGCGATGGCCATGCCAAAGCCCACCTCCAGGACCCGGCCCCCTGGGCAGACACAGGGCGCCTGGCATCACTAGGTGGGGCGGGCTTAGGAGGCTGCCTGGAGGAGGGGCACAGGGCAGGGCAGGGCTGGGGAGACTGCCTGGAGGAGGGGGCGCAGGGCTGGGCTGGGGGTCTGCCTGGAGGGGGGCGTGCAGAGCAGGGCTGGAGAGGCTGCCTGGAGGAGGGGGTGTGGGGCAATGCTGGGGAGGCTGCCTGGAGGAGGGGGTGCGGGGCAGGGCTGGAGAGGCTGCCAGGAGGAGGGGATGCAGGGCTGGGGAGGCTGTCTGGAAGAGGGGGTGCAGAGCAGGGCTGGGGAGGCTTCCTGGAGGAGGGGGCACAGGGTAGGGCAGGGCTGAGCTGGGGGTCTGCTTGGAGGAGGGGGTGCAGGGCTGAACTAGGCTATGTGAGTCACATTTGCCACAGGACGGGAGGGCACCCTGGGCCAGCATGGACAGAGGCGGGCGGAACACAGTAGTCCTGAGCGGGAACAGCGTGGGCCCTGGCCAGCGGCCAGAGAGAGGATGACCAGCCAGGGAGGCCGAAGACGGCCGCTTTTGGGGCCAGGCCTGTGGGGAGGCGAGAGCCTTGGACTTTGAGCCCAGCCCACGCTGTTTGTCCCGGGTCCCTTATCTCTCGGGTTAGTTACTTTTCTCTCCCCCTCCCTCTATCCGAAAGTTGGATTTGCAAGAGTGGCCAGGCAAGACCTGGACTTGAGACTATCTGGGAGGGGAAGGACTGGTCCCCAGTGGGCCACACATGGGCCCCCCGCTCAATCCTGATTGGCACTGGACACTGGACGTGCCCATTTTCAGGGTGGGAACACTGAGGCCCGACCCCTGGACGGGGCCTGTGTGGGGCCAGGGAGTCCTTTCTTAGCAGCCCTTAGCGTCTGACGCCAGGCAGGCCAGGGCCACCCCGGGGACAGCTGTCTCCCTGAGCTCAGCTTTCCGAGTGCTATTCTTAGCCGGGCGAGTCGGGGCTGCTCTCCCAGGCAGGCAGAAGGGCAGCCTCTCCCTGGCACGACCCCTTCCTCCCGACCTCAGACAGGGAGCTGGGGACCCGGTTCCACCCN | pathogenic | 293,329 |
A genetic variant at chromosome 19, position 1398964, affecting gene GAMT (guanidinoacetate N-methyltransferase)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Cerebral_creatine_deficiency_syndrome', 'Deficiency_of_guanidinoacetate_methyltransferase', 'Inborn_genetic_diseases'] | GAGGAAGGGACATCGGGCATCAGCTGGAGATGTCTGCTATGGGCAAGACAGTGGGGGGGGCGGGGCGGATCCTGGGGCCGCTCAGAAACCTGGAGGGGAGTCACCCACTTTTCCTGTGTCCATGGGATGGGCGGGAGGTGAGGGAGCAGCCGCTGGAAGTAACAGTCGCACGCTCACTGCCGACTGGCCAAGCCCAGCGCCGGCGTTTACTTCACCTCAGGGACCCTGCAGTGGGCAGCAGTGACCCTCACAGAGAAGCTGGGAAAGCTGCTGGTGACACACAGCTGGGATCAGCCCTGGGCTGGTGGGACCCCTCACAGAGAAGCCGGGAAAGCTTCTGGTGACACACAGCTGGGATCAGCCCAGGGCTGGTGCGACACCCTGGACTCCCGGCCAGGAAGGCACGGAGGAGGGCATGGGTGTGGCCGGGCCGGGGTGGGGGCTCAGCCTTTGGTCACCAGGGGCGTGATCATCTGTGGGAAGGCGTAGTAGCGGCAGTCGGCCGGTGGGACCAGCGCCATCACCTCCGTACGGATGTTCTCCCTCCGGAAGCCGGCCTCCAGCAGCGCGGGCACCTGCGTCTCCTGGTCGGGGATGGCACCAGGTCACCTCTGAGGGCCATGGGGGTCACGTGCACCCTGGCGCCCACCCCTCATTGAAGAGTGTTTACAGATGGCAAGGCCCGGGTGGGCGGCTGCAGCTCCCGTGGGCACGTGGCAGGGCAGCCCTGGAAGCCCAGGTGTGAACGGGAATCTCCAGCTCCCCAGTGCGGGCAGCAGCTTCCCGGCTGTCCTGGAACCCCAGCCCCACACTCGAGCCACCCCCGGGCACCTACTCCACAGTTCTCCAGACCTTGCCAGTGTGGCGGGTGGAGCCAAAGAATCACACCAGAAAAAGAACACAGGCCACTAGTTCCCATTTTGGAAGAAAAGCTGCCCCAGGGGCCACAGGCACCCAGCCGGCTCTCACAACAGCAGCCCAGGGCAACCACATAGAGCCCTTCTCAGATAGGCCGCCTCCACCAGGCAGAGGGAACAGCGAGACAAGCACTGCTGAACCAGCAAAGACAGCCAGGTGGAGGCAGCTGGAGGGAGGGGAACACGCAGGGCTTAGGCTGAACCACAGGGCACTGGGGAGCCATGGGAGGTTGTTGAGCTGGTGAGGGACTTTGATTTCCATTTTTTTTGTTTTTGTTTTGTTGAGATGGAGTCTCGGTCTGTTGCCCAGGCTGGAGTACAACGGTGCAATCTCGGCTCACAGCAACCTCCGCCTCCCATGTTCAAGTGATTCTCATGCCTCAGCCTCCCGAGTAGCTGGAATTACAGGCGCCCGCCACCACGCCTGGCTAACTTTTGTATTTTTAGTAGAGATGGGATTCTGCCATGTTGGCCAGGCTAGGCTCAAACTCCTGGGCTCAAGTGATCCACCCGCCTTGGCCTTCCGAAGTGCCGGGATCACAGGTGTGAGCCACCACGCCCAGCCTGATTTCCATTTTTTTTTTAAATTTTCTTTCTTTCTTTCTTTCTTTCTTTTTTCTTGAGACAGGGTCTGGCTCTGTTACCCAGGCTGGAGTGCAGTGGTTCGATCTGGGCTCACTGCAACCTCTGCCCCTGGGGCCCAAGCAATCCTCCTACCTCAGCCTCCCAAGTAGCTGGGAGTACAGGCACACGCCACCACGCCCAGCTAGTTTTTTGTATTTTTTTTTTTTAGGAAAGATGAGGTCTTGCTCTGTAGCCCAGGCTGGTCTTGAACTCCTAGGCTCAAGCAATCTGCCCACCTCGGCCTTCCACAGTGCTGGGATTATAGACCTGAGCCACTGCTCCTGGCAGCCACTGCGCCAGGCAAAGGACTTTGATTTCTAAATGAACCAGCACAGTCCAGCCCACCCAGGGGGTCAGGAAGGGACCCTCCCCAGGTAGCAAGGTGGCTCCAGCAGCCCCTTCCCACCCCCATCCAAGGTCACTTCCTGGAGACCCATGGGGAACTTCAGGTGGGCGCACCTCAAACATGATGGTGATGTCTGAGTACTTGGACTTCATCAGCTCCCCCCAGGAGGTGAGGTTGCAGTAGGTGAGGACGCCCCCCGGCTTCAGCAGGCGAAAGGCGTGGTTCTGTGGAAGGGGAGTGGCCAGTGGTCAGGACGGAGGTGGGGGTGTGGGCAGAGGGGCTTCCCCGAGGGCCTCCCGCATCCCAGCAAGTCAGAGAGAACCACCTTGATGAAGTTGAACTGGTGTGTGTGCCAGGTCTCCTCCGAGAGTGGGTACGTGTCGTACAGGATCCCTGCACGGAGAACAGAAGCCCACGCGGTCAGGGCCGGGCTCAGCGCCTCACCCAGCCTCACCCGGCTCATCCCCCAGCGGGTGGAGGTGCAGTGAGACGGGGCCGTGGGTAGAGGTGGGGCTCCCACACAGGCTTGAGAACCCCGAGATCGCCTCCAGGGCCCCTCCGTGAGCATGCCCATCCCCGGTGCTCCGCCATCCCACAGCCAGGCCCACACCCACTTGGGCTCTGTCCCCCCAGTGCACATCAGAGGGACCCCCACAAGCAAAGGAGGGGCTGCATTGGAGCTGGGGAGGCCCACCCTGTGATACGTCCCCTCACCCCTCACCATCAAAGTGACCGTCAGGCAGGGTGGGTGCCACATCCTCCCACAGGCCTTTCAAGGGGATGACCTTGCAGAGGGGAAAAGAAAAAGAGAGGACAGGGTAGAGAGGTCCCCAGGATCTCCCCACCTGCAGAAAGGGAGCGGCCAGGGGGACTCCCGAGAGAGAAGACCACCTCCTCCACCTCTGACAGCCCCAGGCCCCCAACCCCCAGGAAGCAGTGCCCTCACCCCAAGGAGTGGGGGTCCTGGAGGGCCTGCGGGCAGAGGGGCACCTTGTGTGTCTGCCGTGGGGCCCAGTCCCGGAGCCGCTGGAAGACGCCGTCATTGCACTCGATGATCCAATGCTCATCAATGGGCGCCTCCTGCACCTTTGACGCTGCGATGGCCATGCCAAAGCCCACCTCCAGGACCCGGCCCCCTGGGCAGACACAGGGCGCCTGGCATCACTAGGTGGGGCGGGCTTAGGAGGCTGCCTGGAGGAGGGGCACAGGGCAGGGCAGGGCTGGGGAGACTGCCTGGAGGAGGGGGCGCAGGGCTGGGCTGGGGGTCTGCCTGGAGGGGGGCGTGCAGAGCAGGGCTGGAGAGGCTGCCTGGAGGAGGGGGTGTGGGGCAATGCTGGGGAGGCTGCCTGGAGGAGGGGGTGCGGGGCAGGGCTGGAGAGGCTGCCAGGAGGAGGGGATGCAGGGCTGGGGAGGCTGTCTGGAAGAGGGGGTGCAGAGCAGGGCTGGGGAGGCTTCCTGGAGGAGGGGGCACAGGGTAGGGCAGGGCTGAGCTGGGGGTCTGCTTGGAGGAGGGGGTGCAGGGCTGAACTAGGCTATGTGAGTCACATTTGCCACAGGACGGGAGGGCACCCTGGGCCAGCATGGACAGAGGCGGGCGGAACACAGTAGTCCTGAGCGGGAACAGCGTGGGCCCTGGCCAGCGGCCAGAGAGAGGATGACCAGCCAGGGAGGCCGAAGACGGCCGCTTTTGGGGCCAGGCCTGTGGGGAGGCGAGAGCCTTGGACTTTGAGCCCAGCCCACGCTGTTTGTCCCGGGTCCCTTATCTCTCGGGTTAGTTACTTTTCTCTCCCCCTCCCTCTATCCGAAAGTTGGATTTGCAAGAGTGGCCAGGCAAGACCTGGACTTGAGACTATCTGGGAGGGGAAGGACTGGTCCCCAGTGGGCCACACATGGGCCCCCCGCTCAATCCTGATTGGCACTGGACACTGGACGTGCCCATTTTCAGGGTGGGAACACTGAGGCCCGACCCCTGGACGGGGCCTGTGTGGGGCCAGGGAGTCCTTTCTTAGCAGCCCTTAGCGTCTGACGCCAGGCAGGCCAGGGCCACCCCGGGGACAGCTGTCTCCCTGAGCTCAGCTTTCCGAGTGCTATTCTTAGCCGGGCGAGTCGGGGCTGCTCTCCCAGGCAGGCAGAAGGGCAGCCTCTCCCTGGCACGACCCCTTCCTCCCGACCTCAGACAGGGAGCTGGGGACCCGGTTCCACCCAGTTT | GAGGAAGGGACATCGGGCATCAGCTGGAGATGTCTGCTATGGGCAAGACAGTGGGGGGGGCGGGGCGGATCCTGGGGCCGCTCAGAAACCTGGAGGGGAGTCACCCACTTTTCCTGTGTCCATGGGATGGGCGGGAGGTGAGGGAGCAGCCGCTGGAAGTAACAGTCGCACGCTCACTGCCGACTGGCCAAGCCCAGCGCCGGCGTTTACTTCACCTCAGGGACCCTGCAGTGGGCAGCAGTGACCCTCACAGAGAAGCTGGGAAAGCTGCTGGTGACACACAGCTGGGATCAGCCCTGGGCTGGTGGGACCCCTCACAGAGAAGCCGGGAAAGCTTCTGGTGACACACAGCTGGGATCAGCCCAGGGCTGGTGCGACACCCTGGACTCCCGGCCAGGAAGGCACGGAGGAGGGCATGGGTGTGGCCGGGCCGGGGTGGGGGCTCAGCCTTTGGTCACCAGGGGCGTGATCATCTGTGGGAAGGCGTAGTAGCGGCAGTCGGCCGGTGGGACCAGCGCCATCACCTCCGTACGGATGTTCTCCCTCCGGAAGCCGGCCTCCAGCAGCGCGGGCACCTGCGTCTCCTGGTCGGGGATGGCACCAGGTCACCTCTGAGGGCCATGGGGGTCACGTGCACCCTGGCGCCCACCCCTCATTGAAGAGTGTTTACAGATGGCAAGGCCCGGGTGGGCGGCTGCAGCTCCCGTGGGCACGTGGCAGGGCAGCCCTGGAAGCCCAGGTGTGAACGGGAATCTCCAGCTCCCCAGTGCGGGCAGCAGCTTCCCGGCTGTCCTGGAACCCCAGCCCCACACTCGAGCCACCCCCGGGCACCTACTCCACAGTTCTCCAGACCTTGCCAGTGTGGCGGGTGGAGCCAAAGAATCACACCAGAAAAAGAACACAGGCCACTAGTTCCCATTTTGGAAGAAAAGCTGCCCCAGGGGCCACAGGCACCCAGCCGGCTCTCACAACAGCAGCCCAGGGCAACCACATAGAGCCCTTCTCAGATAGGCCGCCTCCACCAGGCAGAGGGAACAGCGAGACAAGCACTGCTGAACCAGCAAAGACAGCCAGGTGGAGGCAGCTGGAGGGAGGGGAACACGCAGGGCTTAGGCTGAACCACAGGGCACTGGGGAGCCATGGGAGGTTGTTGAGCTGGTGAGGGACTTTGATTTCCATTTTTTTTGTTTTTGTTTTGTTGAGATGGAGTCTCGGTCTGTTGCCCAGGCTGGAGTACAACGGTGCAATCTCGGCTCACAGCAACCTCCGCCTCCCATGTTCAAGTGATTCTCATGCCTCAGCCTCCCGAGTAGCTGGAATTACAGGCGCCCGCCACCACGCCTGGCTAACTTTTGTATTTTTAGTAGAGATGGGATTCTGCCATGTTGGCCAGGCTAGGCTCAAACTCCTGGGCTCAAGTGATCCACCCGCCTTGGCCTTCCGAAGTGCCGGGATCACAGGTGTGAGCCACCACGCCCAGCCTGATTTCCATTTTTTTTTTAAATTTTCTTTCTTTCTTTCTTTCTTTCTTTTTTCTTGAGACAGGGTCTGGCTCTGTTACCCAGGCTGGAGTGCAGTGGTTCGATCTGGGCTCACTGCAACCTCTGCCCCTGGGGCCCAAGCAATCCTCCTACCTCAGCCTCCCAAGTAGCTGGGAGTACAGGCACACGCCACCACGCCCAGCTAGTTTTTTGTATTTTTTTTTTTTAGGAAAGATGAGGTCTTGCTCTGTAGCCCAGGCTGGTCTTGAACTCCTAGGCTCAAGCAATCTGCCCACCTCGGCCTTCCACAGTGCTGGGATTATAGACCTGAGCCACTGCTCCTGGCAGCCACTGCGCCAGGCAAAGGACTTTGATTTCTAAATGAACCAGCACAGTCCAGCCCACCCAGGGGGTCAGGAAGGGACCCTCCCCAGGTAGCAAGGTGGCTCCAGCAGCCCCTTCCCACCCCCATCCAAGGTCACTTCCTGGAGACCCATGGGGAACTTCAGGTGGGCGCACCTCAAACATGATGGTGATGTCTGAGTACTTGGACTTCATCAGCTCCCCCCAGGAGGTGAGGTTGCAGGAGGTGAGGTTGCAGTAGGTGAGGACGCCCCCCGGCTTCAGCAGGCGAAAGGCGTGGTTCTGTGGAAGGGGAGTGGCCAGTGGTCAGGACGGAGGTGGGGGTGTGGGCAGAGGGGCTTCCCCGAGGGCCTCCCGCATCCCAGCAAGTCAGAGAGAACCACCTTGATGAAGTTGAACTGGTGTGTGTGCCAGGTCTCCTCCGAGAGTGGGTACGTGTCGTACAGGATCCCTGCACGGAGAACAGAAGCCCACGCGGTCAGGGCCGGGCTCAGCGCCTCACCCAGCCTCACCCGGCTCATCCCCCAGCGGGTGGAGGTGCAGTGAGACGGGGCCGTGGGTAGAGGTGGGGCTCCCACACAGGCTTGAGAACCCCGAGATCGCCTCCAGGGCCCCTCCGTGAGCATGCCCATCCCCGGTGCTCCGCCATCCCACAGCCAGGCCCACACCCACTTGGGCTCTGTCCCCCCAGTGCACATCAGAGGGACCCCCACAAGCAAAGGAGGGGCTGCATTGGAGCTGGGGAGGCCCACCCTGTGATACGTCCCCTCACCCCTCACCATCAAAGTGACCGTCAGGCAGGGTGGGTGCCACATCCTCCCACAGGCCTTTCAAGGGGATGACCTTGCAGAGGGGAAAAGAAAAAGAGAGGACAGGGTAGAGAGGTCCCCAGGATCTCCCCACCTGCAGAAAGGGAGCGGCCAGGGGGACTCCCGAGAGAGAAGACCACCTCCTCCACCTCTGACAGCCCCAGGCCCCCAACCCCCAGGAAGCAGTGCCCTCACCCCAAGGAGTGGGGGTCCTGGAGGGCCTGCGGGCAGAGGGGCACCTTGTGTGTCTGCCGTGGGGCCCAGTCCCGGAGCCGCTGGAAGACGCCGTCATTGCACTCGATGATCCAATGCTCATCAATGGGCGCCTCCTGCACCTTTGACGCTGCGATGGCCATGCCAAAGCCCACCTCCAGGACCCGGCCCCCTGGGCAGACACAGGGCGCCTGGCATCACTAGGTGGGGCGGGCTTAGGAGGCTGCCTGGAGGAGGGGCACAGGGCAGGGCAGGGCTGGGGAGACTGCCTGGAGGAGGGGGCGCAGGGCTGGGCTGGGGGTCTGCCTGGAGGGGGGCGTGCAGAGCAGGGCTGGAGAGGCTGCCTGGAGGAGGGGGTGTGGGGCAATGCTGGGGAGGCTGCCTGGAGGAGGGGGTGCGGGGCAGGGCTGGAGAGGCTGCCAGGAGGAGGGGATGCAGGGCTGGGGAGGCTGTCTGGAAGAGGGGGTGCAGAGCAGGGCTGGGGAGGCTTCCTGGAGGAGGGGGCACAGGGTAGGGCAGGGCTGAGCTGGGGGTCTGCTTGGAGGAGGGGGTGCAGGGCTGAACTAGGCTATGTGAGTCACATTTGCCACAGGACGGGAGGGCACCCTGGGCCAGCATGGACAGAGGCGGGCGGAACACAGTAGTCCTGAGCGGGAACAGCGTGGGCCCTGGCCAGCGGCCAGAGAGAGGATGACCAGCCAGGGAGGCCGAAGACGGCCGCTTTTGGGGCCAGGCCTGTGGGGAGGCGAGAGCCTTGGACTTTGAGCCCAGCCCACGCTGTTTGTCCCGGGTCCCTTATCTCTCGGGTTAGTTACTTTTCTCTCCCCCTCCCTCTATCCGAAAGTTGGATTTGCAAGAGTGGCCAGGCAAGACCTGGACTTGAGACTATCTGGGAGGGGAAGGACTGGTCCCCAGTGGGCCACACATGGGCCCCCCGCTCAATCCTGATTGGCACTGGACACTGGACGTGCCCATTTTCAGGGTGGGAACACTGAGGCCCGACCCCTGGACGGGGCCTGTGTGGGGCCAGGGAGTCCTTTCTTAGCAGCCCTTAGCGTCTGACGCCAGGCAGGCCAGGGCCACCCCGGGGACAGCTGTCTCCCTGAGCTCAGCTTTCCGAGTGCTATTCTTAGCCGGGCGAGTCGGGGCTGCTCTCCCAGGCAGGCAGAAGGGCAGCCTCTCCCTGGCACGACCCCTTCCTCCCGACCTCAGACAGGGAGCTGGGGACCC | pathogenic | 293,331 |
Clinical impact (benign or pathogenic) of the variant at chromosome 19, location 1398994, gene GAMT (guanidinoacetate N-methyltransferase): what disease(s) if pathogenic? | pathogenic; ['Cerebral_creatine_deficiency_syndrome', 'Deficiency_of_guanidinoacetate_methyltransferase', 'Inborn_genetic_diseases'] | TGTCTGCTATGGGCAAGACAGTGGGGGGGGCGGGGCGGATCCTGGGGCCGCTCAGAAACCTGGAGGGGAGTCACCCACTTTTCCTGTGTCCATGGGATGGGCGGGAGGTGAGGGAGCAGCCGCTGGAAGTAACAGTCGCACGCTCACTGCCGACTGGCCAAGCCCAGCGCCGGCGTTTACTTCACCTCAGGGACCCTGCAGTGGGCAGCAGTGACCCTCACAGAGAAGCTGGGAAAGCTGCTGGTGACACACAGCTGGGATCAGCCCTGGGCTGGTGGGACCCCTCACAGAGAAGCCGGGAAAGCTTCTGGTGACACACAGCTGGGATCAGCCCAGGGCTGGTGCGACACCCTGGACTCCCGGCCAGGAAGGCACGGAGGAGGGCATGGGTGTGGCCGGGCCGGGGTGGGGGCTCAGCCTTTGGTCACCAGGGGCGTGATCATCTGTGGGAAGGCGTAGTAGCGGCAGTCGGCCGGTGGGACCAGCGCCATCACCTCCGTACGGATGTTCTCCCTCCGGAAGCCGGCCTCCAGCAGCGCGGGCACCTGCGTCTCCTGGTCGGGGATGGCACCAGGTCACCTCTGAGGGCCATGGGGGTCACGTGCACCCTGGCGCCCACCCCTCATTGAAGAGTGTTTACAGATGGCAAGGCCCGGGTGGGCGGCTGCAGCTCCCGTGGGCACGTGGCAGGGCAGCCCTGGAAGCCCAGGTGTGAACGGGAATCTCCAGCTCCCCAGTGCGGGCAGCAGCTTCCCGGCTGTCCTGGAACCCCAGCCCCACACTCGAGCCACCCCCGGGCACCTACTCCACAGTTCTCCAGACCTTGCCAGTGTGGCGGGTGGAGCCAAAGAATCACACCAGAAAAAGAACACAGGCCACTAGTTCCCATTTTGGAAGAAAAGCTGCCCCAGGGGCCACAGGCACCCAGCCGGCTCTCACAACAGCAGCCCAGGGCAACCACATAGAGCCCTTCTCAGATAGGCCGCCTCCACCAGGCAGAGGGAACAGCGAGACAAGCACTGCTGAACCAGCAAAGACAGCCAGGTGGAGGCAGCTGGAGGGAGGGGAACACGCAGGGCTTAGGCTGAACCACAGGGCACTGGGGAGCCATGGGAGGTTGTTGAGCTGGTGAGGGACTTTGATTTCCATTTTTTTTGTTTTTGTTTTGTTGAGATGGAGTCTCGGTCTGTTGCCCAGGCTGGAGTACAACGGTGCAATCTCGGCTCACAGCAACCTCCGCCTCCCATGTTCAAGTGATTCTCATGCCTCAGCCTCCCGAGTAGCTGGAATTACAGGCGCCCGCCACCACGCCTGGCTAACTTTTGTATTTTTAGTAGAGATGGGATTCTGCCATGTTGGCCAGGCTAGGCTCAAACTCCTGGGCTCAAGTGATCCACCCGCCTTGGCCTTCCGAAGTGCCGGGATCACAGGTGTGAGCCACCACGCCCAGCCTGATTTCCATTTTTTTTTTAAATTTTCTTTCTTTCTTTCTTTCTTTCTTTTTTCTTGAGACAGGGTCTGGCTCTGTTACCCAGGCTGGAGTGCAGTGGTTCGATCTGGGCTCACTGCAACCTCTGCCCCTGGGGCCCAAGCAATCCTCCTACCTCAGCCTCCCAAGTAGCTGGGAGTACAGGCACACGCCACCACGCCCAGCTAGTTTTTTGTATTTTTTTTTTTTAGGAAAGATGAGGTCTTGCTCTGTAGCCCAGGCTGGTCTTGAACTCCTAGGCTCAAGCAATCTGCCCACCTCGGCCTTCCACAGTGCTGGGATTATAGACCTGAGCCACTGCTCCTGGCAGCCACTGCGCCAGGCAAAGGACTTTGATTTCTAAATGAACCAGCACAGTCCAGCCCACCCAGGGGGTCAGGAAGGGACCCTCCCCAGGTAGCAAGGTGGCTCCAGCAGCCCCTTCCCACCCCCATCCAAGGTCACTTCCTGGAGACCCATGGGGAACTTCAGGTGGGCGCACCTCAAACATGATGGTGATGTCTGAGTACTTGGACTTCATCAGCTCCCCCCAGGAGGTGAGGTTGCAGTAGGTGAGGACGCCCCCCGGCTTCAGCAGGCGAAAGGCGTGGTTCTGTGGAAGGGGAGTGGCCAGTGGTCAGGACGGAGGTGGGGGTGTGGGCAGAGGGGCTTCCCCGAGGGCCTCCCGCATCCCAGCAAGTCAGAGAGAACCACCTTGATGAAGTTGAACTGGTGTGTGTGCCAGGTCTCCTCCGAGAGTGGGTACGTGTCGTACAGGATCCCTGCACGGAGAACAGAAGCCCACGCGGTCAGGGCCGGGCTCAGCGCCTCACCCAGCCTCACCCGGCTCATCCCCCAGCGGGTGGAGGTGCAGTGAGACGGGGCCGTGGGTAGAGGTGGGGCTCCCACACAGGCTTGAGAACCCCGAGATCGCCTCCAGGGCCCCTCCGTGAGCATGCCCATCCCCGGTGCTCCGCCATCCCACAGCCAGGCCCACACCCACTTGGGCTCTGTCCCCCCAGTGCACATCAGAGGGACCCCCACAAGCAAAGGAGGGGCTGCATTGGAGCTGGGGAGGCCCACCCTGTGATACGTCCCCTCACCCCTCACCATCAAAGTGACCGTCAGGCAGGGTGGGTGCCACATCCTCCCACAGGCCTTTCAAGGGGATGACCTTGCAGAGGGGAAAAGAAAAAGAGAGGACAGGGTAGAGAGGTCCCCAGGATCTCCCCACCTGCAGAAAGGGAGCGGCCAGGGGGACTCCCGAGAGAGAAGACCACCTCCTCCACCTCTGACAGCCCCAGGCCCCCAACCCCCAGGAAGCAGTGCCCTCACCCCAAGGAGTGGGGGTCCTGGAGGGCCTGCGGGCAGAGGGGCACCTTGTGTGTCTGCCGTGGGGCCCAGTCCCGGAGCCGCTGGAAGACGCCGTCATTGCACTCGATGATCCAATGCTCATCAATGGGCGCCTCCTGCACCTTTGACGCTGCGATGGCCATGCCAAAGCCCACCTCCAGGACCCGGCCCCCTGGGCAGACACAGGGCGCCTGGCATCACTAGGTGGGGCGGGCTTAGGAGGCTGCCTGGAGGAGGGGCACAGGGCAGGGCAGGGCTGGGGAGACTGCCTGGAGGAGGGGGCGCAGGGCTGGGCTGGGGGTCTGCCTGGAGGGGGGCGTGCAGAGCAGGGCTGGAGAGGCTGCCTGGAGGAGGGGGTGTGGGGCAATGCTGGGGAGGCTGCCTGGAGGAGGGGGTGCGGGGCAGGGCTGGAGAGGCTGCCAGGAGGAGGGGATGCAGGGCTGGGGAGGCTGTCTGGAAGAGGGGGTGCAGAGCAGGGCTGGGGAGGCTTCCTGGAGGAGGGGGCACAGGGTAGGGCAGGGCTGAGCTGGGGGTCTGCTTGGAGGAGGGGGTGCAGGGCTGAACTAGGCTATGTGAGTCACATTTGCCACAGGACGGGAGGGCACCCTGGGCCAGCATGGACAGAGGCGGGCGGAACACAGTAGTCCTGAGCGGGAACAGCGTGGGCCCTGGCCAGCGGCCAGAGAGAGGATGACCAGCCAGGGAGGCCGAAGACGGCCGCTTTTGGGGCCAGGCCTGTGGGGAGGCGAGAGCCTTGGACTTTGAGCCCAGCCCACGCTGTTTGTCCCGGGTCCCTTATCTCTCGGGTTAGTTACTTTTCTCTCCCCCTCCCTCTATCCGAAAGTTGGATTTGCAAGAGTGGCCAGGCAAGACCTGGACTTGAGACTATCTGGGAGGGGAAGGACTGGTCCCCAGTGGGCCACACATGGGCCCCCCGCTCAATCCTGATTGGCACTGGACACTGGACGTGCCCATTTTCAGGGTGGGAACACTGAGGCCCGACCCCTGGACGGGGCCTGTGTGGGGCCAGGGAGTCCTTTCTTAGCAGCCCTTAGCGTCTGACGCCAGGCAGGCCAGGGCCACCCCGGGGACAGCTGTCTCCCTGAGCTCAGCTTTCCGAGTGCTATTCTTAGCCGGGCGAGTCGGGGCTGCTCTCCCAGGCAGGCAGAAGGGCAGCCTCTCCCTGGCACGACCCCTTCCTCCCGACCTCAGACAGGGAGCTGGGGACCCGGTTCCACCCAGTTTCACCCAGGTCTCACGTTTGAGGTCCCCATC | TGTCTGCTATGGGCAAGACAGTGGGGGGGGCGGGGCGGATCCTGGGGCCGCTCAGAAACCTGGAGGGGAGTCACCCACTTTTCCTGTGTCCATGGGATGGGCGGGAGGTGAGGGAGCAGCCGCTGGAAGTAACAGTCGCACGCTCACTGCCGACTGGCCAAGCCCAGCGCCGGCGTTTACTTCACCTCAGGGACCCTGCAGTGGGCAGCAGTGACCCTCACAGAGAAGCTGGGAAAGCTGCTGGTGACACACAGCTGGGATCAGCCCTGGGCTGGTGGGACCCCTCACAGAGAAGCCGGGAAAGCTTCTGGTGACACACAGCTGGGATCAGCCCAGGGCTGGTGCGACACCCTGGACTCCCGGCCAGGAAGGCACGGAGGAGGGCATGGGTGTGGCCGGGCCGGGGTGGGGGCTCAGCCTTTGGTCACCAGGGGCGTGATCATCTGTGGGAAGGCGTAGTAGCGGCAGTCGGCCGGTGGGACCAGCGCCATCACCTCCGTACGGATGTTCTCCCTCCGGAAGCCGGCCTCCAGCAGCGCGGGCACCTGCGTCTCCTGGTCGGGGATGGCACCAGGTCACCTCTGAGGGCCATGGGGGTCACGTGCACCCTGGCGCCCACCCCTCATTGAAGAGTGTTTACAGATGGCAAGGCCCGGGTGGGCGGCTGCAGCTCCCGTGGGCACGTGGCAGGGCAGCCCTGGAAGCCCAGGTGTGAACGGGAATCTCCAGCTCCCCAGTGCGGGCAGCAGCTTCCCGGCTGTCCTGGAACCCCAGCCCCACACTCGAGCCACCCCCGGGCACCTACTCCACAGTTCTCCAGACCTTGCCAGTGTGGCGGGTGGAGCCAAAGAATCACACCAGAAAAAGAACACAGGCCACTAGTTCCCATTTTGGAAGAAAAGCTGCCCCAGGGGCCACAGGCACCCAGCCGGCTCTCACAACAGCAGCCCAGGGCAACCACATAGAGCCCTTCTCAGATAGGCCGCCTCCACCAGGCAGAGGGAACAGCGAGACAAGCACTGCTGAACCAGCAAAGACAGCCAGGTGGAGGCAGCTGGAGGGAGGGGAACACGCAGGGCTTAGGCTGAACCACAGGGCACTGGGGAGCCATGGGAGGTTGTTGAGCTGGTGAGGGACTTTGATTTCCATTTTTTTTGTTTTTGTTTTGTTGAGATGGAGTCTCGGTCTGTTGCCCAGGCTGGAGTACAACGGTGCAATCTCGGCTCACAGCAACCTCCGCCTCCCATGTTCAAGTGATTCTCATGCCTCAGCCTCCCGAGTAGCTGGAATTACAGGCGCCCGCCACCACGCCTGGCTAACTTTTGTATTTTTAGTAGAGATGGGATTCTGCCATGTTGGCCAGGCTAGGCTCAAACTCCTGGGCTCAAGTGATCCACCCGCCTTGGCCTTCCGAAGTGCCGGGATCACAGGTGTGAGCCACCACGCCCAGCCTGATTTCCATTTTTTTTTTAAATTTTCTTTCTTTCTTTCTTTCTTTCTTTTTTCTTGAGACAGGGTCTGGCTCTGTTACCCAGGCTGGAGTGCAGTGGTTCGATCTGGGCTCACTGCAACCTCTGCCCCTGGGGCCCAAGCAATCCTCCTACCTCAGCCTCCCAAGTAGCTGGGAGTACAGGCACACGCCACCACGCCCAGCTAGTTTTTTGTATTTTTTTTTTTTAGGAAAGATGAGGTCTTGCTCTGTAGCCCAGGCTGGTCTTGAACTCCTAGGCTCAAGCAATCTGCCCACCTCGGCCTTCCACAGTGCTGGGATTATAGACCTGAGCCACTGCTCCTGGCAGCCACTGCGCCAGGCAAAGGACTTTGATTTCTAAATGAACCAGCACAGTCCAGCCCACCCAGGGGGTCAGGAAGGGACCCTCCCCAGGTAGCAAGGTGGCTCCAGCAGCCCCTTCCCACCCCCATCCAAGGTCACTTCCTGGAGACCCATGGGGAACTTCAGGTGGGCGCACCTCAAACATGATGGTGATGTCTGAGTACTTGGACTTCATCAGCTCCCCCCAGGAGGTGAGGTTGCAGTAGGTGAGGACGCCCCCCCGGCTTCAGCAGGCGAAAGGCGTGGTTCTGTGGAAGGGGAGTGGCCAGTGGTCAGGACGGAGGTGGGGGTGTGGGCAGAGGGGCTTCCCCGAGGGCCTCCCGCATCCCAGCAAGTCAGAGAGAACCACCTTGATGAAGTTGAACTGGTGTGTGTGCCAGGTCTCCTCCGAGAGTGGGTACGTGTCGTACAGGATCCCTGCACGGAGAACAGAAGCCCACGCGGTCAGGGCCGGGCTCAGCGCCTCACCCAGCCTCACCCGGCTCATCCCCCAGCGGGTGGAGGTGCAGTGAGACGGGGCCGTGGGTAGAGGTGGGGCTCCCACACAGGCTTGAGAACCCCGAGATCGCCTCCAGGGCCCCTCCGTGAGCATGCCCATCCCCGGTGCTCCGCCATCCCACAGCCAGGCCCACACCCACTTGGGCTCTGTCCCCCCAGTGCACATCAGAGGGACCCCCACAAGCAAAGGAGGGGCTGCATTGGAGCTGGGGAGGCCCACCCTGTGATACGTCCCCTCACCCCTCACCATCAAAGTGACCGTCAGGCAGGGTGGGTGCCACATCCTCCCACAGGCCTTTCAAGGGGATGACCTTGCAGAGGGGAAAAGAAAAAGAGAGGACAGGGTAGAGAGGTCCCCAGGATCTCCCCACCTGCAGAAAGGGAGCGGCCAGGGGGACTCCCGAGAGAGAAGACCACCTCCTCCACCTCTGACAGCCCCAGGCCCCCAACCCCCAGGAAGCAGTGCCCTCACCCCAAGGAGTGGGGGTCCTGGAGGGCCTGCGGGCAGAGGGGCACCTTGTGTGTCTGCCGTGGGGCCCAGTCCCGGAGCCGCTGGAAGACGCCGTCATTGCACTCGATGATCCAATGCTCATCAATGGGCGCCTCCTGCACCTTTGACGCTGCGATGGCCATGCCAAAGCCCACCTCCAGGACCCGGCCCCCTGGGCAGACACAGGGCGCCTGGCATCACTAGGTGGGGCGGGCTTAGGAGGCTGCCTGGAGGAGGGGCACAGGGCAGGGCAGGGCTGGGGAGACTGCCTGGAGGAGGGGGCGCAGGGCTGGGCTGGGGGTCTGCCTGGAGGGGGGCGTGCAGAGCAGGGCTGGAGAGGCTGCCTGGAGGAGGGGGTGTGGGGCAATGCTGGGGAGGCTGCCTGGAGGAGGGGGTGCGGGGCAGGGCTGGAGAGGCTGCCAGGAGGAGGGGATGCAGGGCTGGGGAGGCTGTCTGGAAGAGGGGGTGCAGAGCAGGGCTGGGGAGGCTTCCTGGAGGAGGGGGCACAGGGTAGGGCAGGGCTGAGCTGGGGGTCTGCTTGGAGGAGGGGGTGCAGGGCTGAACTAGGCTATGTGAGTCACATTTGCCACAGGACGGGAGGGCACCCTGGGCCAGCATGGACAGAGGCGGGCGGAACACAGTAGTCCTGAGCGGGAACAGCGTGGGCCCTGGCCAGCGGCCAGAGAGAGGATGACCAGCCAGGGAGGCCGAAGACGGCCGCTTTTGGGGCCAGGCCTGTGGGGAGGCGAGAGCCTTGGACTTTGAGCCCAGCCCACGCTGTTTGTCCCGGGTCCCTTATCTCTCGGGTTAGTTACTTTTCTCTCCCCCTCCCTCTATCCGAAAGTTGGATTTGCAAGAGTGGCCAGGCAAGACCTGGACTTGAGACTATCTGGGAGGGGAAGGACTGGTCCCCAGTGGGCCACACATGGGCCCCCCGCTCAATCCTGATTGGCACTGGACACTGGACGTGCCCATTTTCAGGGTGGGAACACTGAGGCCCGACCCCTGGACGGGGCCTGTGTGGGGCCAGGGAGTCCTTTCTTAGCAGCCCTTAGCGTCTGACGCCAGGCAGGCCAGGGCCACCCCGGGGACAGCTGTCTCCCTGAGCTCAGCTTTCCGAGTGCTATTCTTAGCCGGGCGAGTCGGGGCTGCTCTCCCAGGCAGGCAGAAGGGCAGCCTCTCCCTGGCACGACCCCTTCCTCCCGACCTCAGACAGGGAGCTGGGGACCCGGTTCCACCCAGTTTCACCCAGGTCTCACGTTTGAGGTCCCCAT | pathogenic | 293,340 |
Variant in gene GAMT (guanidinoacetate N-methyltransferase), located at chromosome 19 position 1398994: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Cerebral_creatine_deficiency_syndrome', 'Deficiency_of_guanidinoacetate_methyltransferase'] | TGTCTGCTATGGGCAAGACAGTGGGGGGGGCGGGGCGGATCCTGGGGCCGCTCAGAAACCTGGAGGGGAGTCACCCACTTTTCCTGTGTCCATGGGATGGGCGGGAGGTGAGGGAGCAGCCGCTGGAAGTAACAGTCGCACGCTCACTGCCGACTGGCCAAGCCCAGCGCCGGCGTTTACTTCACCTCAGGGACCCTGCAGTGGGCAGCAGTGACCCTCACAGAGAAGCTGGGAAAGCTGCTGGTGACACACAGCTGGGATCAGCCCTGGGCTGGTGGGACCCCTCACAGAGAAGCCGGGAAAGCTTCTGGTGACACACAGCTGGGATCAGCCCAGGGCTGGTGCGACACCCTGGACTCCCGGCCAGGAAGGCACGGAGGAGGGCATGGGTGTGGCCGGGCCGGGGTGGGGGCTCAGCCTTTGGTCACCAGGGGCGTGATCATCTGTGGGAAGGCGTAGTAGCGGCAGTCGGCCGGTGGGACCAGCGCCATCACCTCCGTACGGATGTTCTCCCTCCGGAAGCCGGCCTCCAGCAGCGCGGGCACCTGCGTCTCCTGGTCGGGGATGGCACCAGGTCACCTCTGAGGGCCATGGGGGTCACGTGCACCCTGGCGCCCACCCCTCATTGAAGAGTGTTTACAGATGGCAAGGCCCGGGTGGGCGGCTGCAGCTCCCGTGGGCACGTGGCAGGGCAGCCCTGGAAGCCCAGGTGTGAACGGGAATCTCCAGCTCCCCAGTGCGGGCAGCAGCTTCCCGGCTGTCCTGGAACCCCAGCCCCACACTCGAGCCACCCCCGGGCACCTACTCCACAGTTCTCCAGACCTTGCCAGTGTGGCGGGTGGAGCCAAAGAATCACACCAGAAAAAGAACACAGGCCACTAGTTCCCATTTTGGAAGAAAAGCTGCCCCAGGGGCCACAGGCACCCAGCCGGCTCTCACAACAGCAGCCCAGGGCAACCACATAGAGCCCTTCTCAGATAGGCCGCCTCCACCAGGCAGAGGGAACAGCGAGACAAGCACTGCTGAACCAGCAAAGACAGCCAGGTGGAGGCAGCTGGAGGGAGGGGAACACGCAGGGCTTAGGCTGAACCACAGGGCACTGGGGAGCCATGGGAGGTTGTTGAGCTGGTGAGGGACTTTGATTTCCATTTTTTTTGTTTTTGTTTTGTTGAGATGGAGTCTCGGTCTGTTGCCCAGGCTGGAGTACAACGGTGCAATCTCGGCTCACAGCAACCTCCGCCTCCCATGTTCAAGTGATTCTCATGCCTCAGCCTCCCGAGTAGCTGGAATTACAGGCGCCCGCCACCACGCCTGGCTAACTTTTGTATTTTTAGTAGAGATGGGATTCTGCCATGTTGGCCAGGCTAGGCTCAAACTCCTGGGCTCAAGTGATCCACCCGCCTTGGCCTTCCGAAGTGCCGGGATCACAGGTGTGAGCCACCACGCCCAGCCTGATTTCCATTTTTTTTTTAAATTTTCTTTCTTTCTTTCTTTCTTTCTTTTTTCTTGAGACAGGGTCTGGCTCTGTTACCCAGGCTGGAGTGCAGTGGTTCGATCTGGGCTCACTGCAACCTCTGCCCCTGGGGCCCAAGCAATCCTCCTACCTCAGCCTCCCAAGTAGCTGGGAGTACAGGCACACGCCACCACGCCCAGCTAGTTTTTTGTATTTTTTTTTTTTAGGAAAGATGAGGTCTTGCTCTGTAGCCCAGGCTGGTCTTGAACTCCTAGGCTCAAGCAATCTGCCCACCTCGGCCTTCCACAGTGCTGGGATTATAGACCTGAGCCACTGCTCCTGGCAGCCACTGCGCCAGGCAAAGGACTTTGATTTCTAAATGAACCAGCACAGTCCAGCCCACCCAGGGGGTCAGGAAGGGACCCTCCCCAGGTAGCAAGGTGGCTCCAGCAGCCCCTTCCCACCCCCATCCAAGGTCACTTCCTGGAGACCCATGGGGAACTTCAGGTGGGCGCACCTCAAACATGATGGTGATGTCTGAGTACTTGGACTTCATCAGCTCCCCCCAGGAGGTGAGGTTGCAGTAGGTGAGGACGCCCCCCGGCTTCAGCAGGCGAAAGGCGTGGTTCTGTGGAAGGGGAGTGGCCAGTGGTCAGGACGGAGGTGGGGGTGTGGGCAGAGGGGCTTCCCCGAGGGCCTCCCGCATCCCAGCAAGTCAGAGAGAACCACCTTGATGAAGTTGAACTGGTGTGTGTGCCAGGTCTCCTCCGAGAGTGGGTACGTGTCGTACAGGATCCCTGCACGGAGAACAGAAGCCCACGCGGTCAGGGCCGGGCTCAGCGCCTCACCCAGCCTCACCCGGCTCATCCCCCAGCGGGTGGAGGTGCAGTGAGACGGGGCCGTGGGTAGAGGTGGGGCTCCCACACAGGCTTGAGAACCCCGAGATCGCCTCCAGGGCCCCTCCGTGAGCATGCCCATCCCCGGTGCTCCGCCATCCCACAGCCAGGCCCACACCCACTTGGGCTCTGTCCCCCCAGTGCACATCAGAGGGACCCCCACAAGCAAAGGAGGGGCTGCATTGGAGCTGGGGAGGCCCACCCTGTGATACGTCCCCTCACCCCTCACCATCAAAGTGACCGTCAGGCAGGGTGGGTGCCACATCCTCCCACAGGCCTTTCAAGGGGATGACCTTGCAGAGGGGAAAAGAAAAAGAGAGGACAGGGTAGAGAGGTCCCCAGGATCTCCCCACCTGCAGAAAGGGAGCGGCCAGGGGGACTCCCGAGAGAGAAGACCACCTCCTCCACCTCTGACAGCCCCAGGCCCCCAACCCCCAGGAAGCAGTGCCCTCACCCCAAGGAGTGGGGGTCCTGGAGGGCCTGCGGGCAGAGGGGCACCTTGTGTGTCTGCCGTGGGGCCCAGTCCCGGAGCCGCTGGAAGACGCCGTCATTGCACTCGATGATCCAATGCTCATCAATGGGCGCCTCCTGCACCTTTGACGCTGCGATGGCCATGCCAAAGCCCACCTCCAGGACCCGGCCCCCTGGGCAGACACAGGGCGCCTGGCATCACTAGGTGGGGCGGGCTTAGGAGGCTGCCTGGAGGAGGGGCACAGGGCAGGGCAGGGCTGGGGAGACTGCCTGGAGGAGGGGGCGCAGGGCTGGGCTGGGGGTCTGCCTGGAGGGGGGCGTGCAGAGCAGGGCTGGAGAGGCTGCCTGGAGGAGGGGGTGTGGGGCAATGCTGGGGAGGCTGCCTGGAGGAGGGGGTGCGGGGCAGGGCTGGAGAGGCTGCCAGGAGGAGGGGATGCAGGGCTGGGGAGGCTGTCTGGAAGAGGGGGTGCAGAGCAGGGCTGGGGAGGCTTCCTGGAGGAGGGGGCACAGGGTAGGGCAGGGCTGAGCTGGGGGTCTGCTTGGAGGAGGGGGTGCAGGGCTGAACTAGGCTATGTGAGTCACATTTGCCACAGGACGGGAGGGCACCCTGGGCCAGCATGGACAGAGGCGGGCGGAACACAGTAGTCCTGAGCGGGAACAGCGTGGGCCCTGGCCAGCGGCCAGAGAGAGGATGACCAGCCAGGGAGGCCGAAGACGGCCGCTTTTGGGGCCAGGCCTGTGGGGAGGCGAGAGCCTTGGACTTTGAGCCCAGCCCACGCTGTTTGTCCCGGGTCCCTTATCTCTCGGGTTAGTTACTTTTCTCTCCCCCTCCCTCTATCCGAAAGTTGGATTTGCAAGAGTGGCCAGGCAAGACCTGGACTTGAGACTATCTGGGAGGGGAAGGACTGGTCCCCAGTGGGCCACACATGGGCCCCCCGCTCAATCCTGATTGGCACTGGACACTGGACGTGCCCATTTTCAGGGTGGGAACACTGAGGCCCGACCCCTGGACGGGGCCTGTGTGGGGCCAGGGAGTCCTTTCTTAGCAGCCCTTAGCGTCTGACGCCAGGCAGGCCAGGGCCACCCCGGGGACAGCTGTCTCCCTGAGCTCAGCTTTCCGAGTGCTATTCTTAGCCGGGCGAGTCGGGGCTGCTCTCCCAGGCAGGCAGAAGGGCAGCCTCTCCCTGGCACGACCCCTTCCTCCCGACCTCAGACAGGGAGCTGGGGACCCGGTTCCACCCAGTTTCACCCAGGTCTCACGTTTGAGGTCCCCATC | TGTCTGCTATGGGCAAGACAGTGGGGGGGGCGGGGCGGATCCTGGGGCCGCTCAGAAACCTGGAGGGGAGTCACCCACTTTTCCTGTGTCCATGGGATGGGCGGGAGGTGAGGGAGCAGCCGCTGGAAGTAACAGTCGCACGCTCACTGCCGACTGGCCAAGCCCAGCGCCGGCGTTTACTTCACCTCAGGGACCCTGCAGTGGGCAGCAGTGACCCTCACAGAGAAGCTGGGAAAGCTGCTGGTGACACACAGCTGGGATCAGCCCTGGGCTGGTGGGACCCCTCACAGAGAAGCCGGGAAAGCTTCTGGTGACACACAGCTGGGATCAGCCCAGGGCTGGTGCGACACCCTGGACTCCCGGCCAGGAAGGCACGGAGGAGGGCATGGGTGTGGCCGGGCCGGGGTGGGGGCTCAGCCTTTGGTCACCAGGGGCGTGATCATCTGTGGGAAGGCGTAGTAGCGGCAGTCGGCCGGTGGGACCAGCGCCATCACCTCCGTACGGATGTTCTCCCTCCGGAAGCCGGCCTCCAGCAGCGCGGGCACCTGCGTCTCCTGGTCGGGGATGGCACCAGGTCACCTCTGAGGGCCATGGGGGTCACGTGCACCCTGGCGCCCACCCCTCATTGAAGAGTGTTTACAGATGGCAAGGCCCGGGTGGGCGGCTGCAGCTCCCGTGGGCACGTGGCAGGGCAGCCCTGGAAGCCCAGGTGTGAACGGGAATCTCCAGCTCCCCAGTGCGGGCAGCAGCTTCCCGGCTGTCCTGGAACCCCAGCCCCACACTCGAGCCACCCCCGGGCACCTACTCCACAGTTCTCCAGACCTTGCCAGTGTGGCGGGTGGAGCCAAAGAATCACACCAGAAAAAGAACACAGGCCACTAGTTCCCATTTTGGAAGAAAAGCTGCCCCAGGGGCCACAGGCACCCAGCCGGCTCTCACAACAGCAGCCCAGGGCAACCACATAGAGCCCTTCTCAGATAGGCCGCCTCCACCAGGCAGAGGGAACAGCGAGACAAGCACTGCTGAACCAGCAAAGACAGCCAGGTGGAGGCAGCTGGAGGGAGGGGAACACGCAGGGCTTAGGCTGAACCACAGGGCACTGGGGAGCCATGGGAGGTTGTTGAGCTGGTGAGGGACTTTGATTTCCATTTTTTTTGTTTTTGTTTTGTTGAGATGGAGTCTCGGTCTGTTGCCCAGGCTGGAGTACAACGGTGCAATCTCGGCTCACAGCAACCTCCGCCTCCCATGTTCAAGTGATTCTCATGCCTCAGCCTCCCGAGTAGCTGGAATTACAGGCGCCCGCCACCACGCCTGGCTAACTTTTGTATTTTTAGTAGAGATGGGATTCTGCCATGTTGGCCAGGCTAGGCTCAAACTCCTGGGCTCAAGTGATCCACCCGCCTTGGCCTTCCGAAGTGCCGGGATCACAGGTGTGAGCCACCACGCCCAGCCTGATTTCCATTTTTTTTTTAAATTTTCTTTCTTTCTTTCTTTCTTTCTTTTTTCTTGAGACAGGGTCTGGCTCTGTTACCCAGGCTGGAGTGCAGTGGTTCGATCTGGGCTCACTGCAACCTCTGCCCCTGGGGCCCAAGCAATCCTCCTACCTCAGCCTCCCAAGTAGCTGGGAGTACAGGCACACGCCACCACGCCCAGCTAGTTTTTTGTATTTTTTTTTTTTAGGAAAGATGAGGTCTTGCTCTGTAGCCCAGGCTGGTCTTGAACTCCTAGGCTCAAGCAATCTGCCCACCTCGGCCTTCCACAGTGCTGGGATTATAGACCTGAGCCACTGCTCCTGGCAGCCACTGCGCCAGGCAAAGGACTTTGATTTCTAAATGAACCAGCACAGTCCAGCCCACCCAGGGGGTCAGGAAGGGACCCTCCCCAGGTAGCAAGGTGGCTCCAGCAGCCCCTTCCCACCCCCATCCAAGGTCACTTCCTGGAGACCCATGGGGAACTTCAGGTGGGCGCACCTCAAACATGATGGTGATGTCTGAGTACTTGGACTTCATCAGCTCCCCCCAGGAGGTGAGGTTGCAGTAGGTGAGGACGCCCCCGGCTTCAGCAGGCGAAAGGCGTGGTTCTGTGGAAGGGGAGTGGCCAGTGGTCAGGACGGAGGTGGGGGTGTGGGCAGAGGGGCTTCCCCGAGGGCCTCCCGCATCCCAGCAAGTCAGAGAGAACCACCTTGATGAAGTTGAACTGGTGTGTGTGCCAGGTCTCCTCCGAGAGTGGGTACGTGTCGTACAGGATCCCTGCACGGAGAACAGAAGCCCACGCGGTCAGGGCCGGGCTCAGCGCCTCACCCAGCCTCACCCGGCTCATCCCCCAGCGGGTGGAGGTGCAGTGAGACGGGGCCGTGGGTAGAGGTGGGGCTCCCACACAGGCTTGAGAACCCCGAGATCGCCTCCAGGGCCCCTCCGTGAGCATGCCCATCCCCGGTGCTCCGCCATCCCACAGCCAGGCCCACACCCACTTGGGCTCTGTCCCCCCAGTGCACATCAGAGGGACCCCCACAAGCAAAGGAGGGGCTGCATTGGAGCTGGGGAGGCCCACCCTGTGATACGTCCCCTCACCCCTCACCATCAAAGTGACCGTCAGGCAGGGTGGGTGCCACATCCTCCCACAGGCCTTTCAAGGGGATGACCTTGCAGAGGGGAAAAGAAAAAGAGAGGACAGGGTAGAGAGGTCCCCAGGATCTCCCCACCTGCAGAAAGGGAGCGGCCAGGGGGACTCCCGAGAGAGAAGACCACCTCCTCCACCTCTGACAGCCCCAGGCCCCCAACCCCCAGGAAGCAGTGCCCTCACCCCAAGGAGTGGGGGTCCTGGAGGGCCTGCGGGCAGAGGGGCACCTTGTGTGTCTGCCGTGGGGCCCAGTCCCGGAGCCGCTGGAAGACGCCGTCATTGCACTCGATGATCCAATGCTCATCAATGGGCGCCTCCTGCACCTTTGACGCTGCGATGGCCATGCCAAAGCCCACCTCCAGGACCCGGCCCCCTGGGCAGACACAGGGCGCCTGGCATCACTAGGTGGGGCGGGCTTAGGAGGCTGCCTGGAGGAGGGGCACAGGGCAGGGCAGGGCTGGGGAGACTGCCTGGAGGAGGGGGCGCAGGGCTGGGCTGGGGGTCTGCCTGGAGGGGGGCGTGCAGAGCAGGGCTGGAGAGGCTGCCTGGAGGAGGGGGTGTGGGGCAATGCTGGGGAGGCTGCCTGGAGGAGGGGGTGCGGGGCAGGGCTGGAGAGGCTGCCAGGAGGAGGGGATGCAGGGCTGGGGAGGCTGTCTGGAAGAGGGGGTGCAGAGCAGGGCTGGGGAGGCTTCCTGGAGGAGGGGGCACAGGGTAGGGCAGGGCTGAGCTGGGGGTCTGCTTGGAGGAGGGGGTGCAGGGCTGAACTAGGCTATGTGAGTCACATTTGCCACAGGACGGGAGGGCACCCTGGGCCAGCATGGACAGAGGCGGGCGGAACACAGTAGTCCTGAGCGGGAACAGCGTGGGCCCTGGCCAGCGGCCAGAGAGAGGATGACCAGCCAGGGAGGCCGAAGACGGCCGCTTTTGGGGCCAGGCCTGTGGGGAGGCGAGAGCCTTGGACTTTGAGCCCAGCCCACGCTGTTTGTCCCGGGTCCCTTATCTCTCGGGTTAGTTACTTTTCTCTCCCCCTCCCTCTATCCGAAAGTTGGATTTGCAAGAGTGGCCAGGCAAGACCTGGACTTGAGACTATCTGGGAGGGGAAGGACTGGTCCCCAGTGGGCCACACATGGGCCCCCCGCTCAATCCTGATTGGCACTGGACACTGGACGTGCCCATTTTCAGGGTGGGAACACTGAGGCCCGACCCCTGGACGGGGCCTGTGTGGGGCCAGGGAGTCCTTTCTTAGCAGCCCTTAGCGTCTGACGCCAGGCAGGCCAGGGCCACCCCGGGGACAGCTGTCTCCCTGAGCTCAGCTTTCCGAGTGCTATTCTTAGCCGGGCGAGTCGGGGCTGCTCTCCCAGGCAGGCAGAAGGGCAGCCTCTCCCTGGCACGACCCCTTCCTCCCGACCTCAGACAGGGAGCTGGGGACCCGGTTCCACCCAGTTTCACCCAGGTCTCACGTTTGAGGTCCCCATCN | pathogenic | 293,341 |
Clinical significance of chromosome 19, position 1399010, gene GAMT (guanidinoacetate N-methyltransferase): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Cerebral_creatine_deficiency_syndrome', 'Deficiency_of_guanidinoacetate_methyltransferase'] | GACAGTGGGGGGGGCGGGGCGGATCCTGGGGCCGCTCAGAAACCTGGAGGGGAGTCACCCACTTTTCCTGTGTCCATGGGATGGGCGGGAGGTGAGGGAGCAGCCGCTGGAAGTAACAGTCGCACGCTCACTGCCGACTGGCCAAGCCCAGCGCCGGCGTTTACTTCACCTCAGGGACCCTGCAGTGGGCAGCAGTGACCCTCACAGAGAAGCTGGGAAAGCTGCTGGTGACACACAGCTGGGATCAGCCCTGGGCTGGTGGGACCCCTCACAGAGAAGCCGGGAAAGCTTCTGGTGACACACAGCTGGGATCAGCCCAGGGCTGGTGCGACACCCTGGACTCCCGGCCAGGAAGGCACGGAGGAGGGCATGGGTGTGGCCGGGCCGGGGTGGGGGCTCAGCCTTTGGTCACCAGGGGCGTGATCATCTGTGGGAAGGCGTAGTAGCGGCAGTCGGCCGGTGGGACCAGCGCCATCACCTCCGTACGGATGTTCTCCCTCCGGAAGCCGGCCTCCAGCAGCGCGGGCACCTGCGTCTCCTGGTCGGGGATGGCACCAGGTCACCTCTGAGGGCCATGGGGGTCACGTGCACCCTGGCGCCCACCCCTCATTGAAGAGTGTTTACAGATGGCAAGGCCCGGGTGGGCGGCTGCAGCTCCCGTGGGCACGTGGCAGGGCAGCCCTGGAAGCCCAGGTGTGAACGGGAATCTCCAGCTCCCCAGTGCGGGCAGCAGCTTCCCGGCTGTCCTGGAACCCCAGCCCCACACTCGAGCCACCCCCGGGCACCTACTCCACAGTTCTCCAGACCTTGCCAGTGTGGCGGGTGGAGCCAAAGAATCACACCAGAAAAAGAACACAGGCCACTAGTTCCCATTTTGGAAGAAAAGCTGCCCCAGGGGCCACAGGCACCCAGCCGGCTCTCACAACAGCAGCCCAGGGCAACCACATAGAGCCCTTCTCAGATAGGCCGCCTCCACCAGGCAGAGGGAACAGCGAGACAAGCACTGCTGAACCAGCAAAGACAGCCAGGTGGAGGCAGCTGGAGGGAGGGGAACACGCAGGGCTTAGGCTGAACCACAGGGCACTGGGGAGCCATGGGAGGTTGTTGAGCTGGTGAGGGACTTTGATTTCCATTTTTTTTGTTTTTGTTTTGTTGAGATGGAGTCTCGGTCTGTTGCCCAGGCTGGAGTACAACGGTGCAATCTCGGCTCACAGCAACCTCCGCCTCCCATGTTCAAGTGATTCTCATGCCTCAGCCTCCCGAGTAGCTGGAATTACAGGCGCCCGCCACCACGCCTGGCTAACTTTTGTATTTTTAGTAGAGATGGGATTCTGCCATGTTGGCCAGGCTAGGCTCAAACTCCTGGGCTCAAGTGATCCACCCGCCTTGGCCTTCCGAAGTGCCGGGATCACAGGTGTGAGCCACCACGCCCAGCCTGATTTCCATTTTTTTTTTAAATTTTCTTTCTTTCTTTCTTTCTTTCTTTTTTCTTGAGACAGGGTCTGGCTCTGTTACCCAGGCTGGAGTGCAGTGGTTCGATCTGGGCTCACTGCAACCTCTGCCCCTGGGGCCCAAGCAATCCTCCTACCTCAGCCTCCCAAGTAGCTGGGAGTACAGGCACACGCCACCACGCCCAGCTAGTTTTTTGTATTTTTTTTTTTTAGGAAAGATGAGGTCTTGCTCTGTAGCCCAGGCTGGTCTTGAACTCCTAGGCTCAAGCAATCTGCCCACCTCGGCCTTCCACAGTGCTGGGATTATAGACCTGAGCCACTGCTCCTGGCAGCCACTGCGCCAGGCAAAGGACTTTGATTTCTAAATGAACCAGCACAGTCCAGCCCACCCAGGGGGTCAGGAAGGGACCCTCCCCAGGTAGCAAGGTGGCTCCAGCAGCCCCTTCCCACCCCCATCCAAGGTCACTTCCTGGAGACCCATGGGGAACTTCAGGTGGGCGCACCTCAAACATGATGGTGATGTCTGAGTACTTGGACTTCATCAGCTCCCCCCAGGAGGTGAGGTTGCAGTAGGTGAGGACGCCCCCCGGCTTCAGCAGGCGAAAGGCGTGGTTCTGTGGAAGGGGAGTGGCCAGTGGTCAGGACGGAGGTGGGGGTGTGGGCAGAGGGGCTTCCCCGAGGGCCTCCCGCATCCCAGCAAGTCAGAGAGAACCACCTTGATGAAGTTGAACTGGTGTGTGTGCCAGGTCTCCTCCGAGAGTGGGTACGTGTCGTACAGGATCCCTGCACGGAGAACAGAAGCCCACGCGGTCAGGGCCGGGCTCAGCGCCTCACCCAGCCTCACCCGGCTCATCCCCCAGCGGGTGGAGGTGCAGTGAGACGGGGCCGTGGGTAGAGGTGGGGCTCCCACACAGGCTTGAGAACCCCGAGATCGCCTCCAGGGCCCCTCCGTGAGCATGCCCATCCCCGGTGCTCCGCCATCCCACAGCCAGGCCCACACCCACTTGGGCTCTGTCCCCCCAGTGCACATCAGAGGGACCCCCACAAGCAAAGGAGGGGCTGCATTGGAGCTGGGGAGGCCCACCCTGTGATACGTCCCCTCACCCCTCACCATCAAAGTGACCGTCAGGCAGGGTGGGTGCCACATCCTCCCACAGGCCTTTCAAGGGGATGACCTTGCAGAGGGGAAAAGAAAAAGAGAGGACAGGGTAGAGAGGTCCCCAGGATCTCCCCACCTGCAGAAAGGGAGCGGCCAGGGGGACTCCCGAGAGAGAAGACCACCTCCTCCACCTCTGACAGCCCCAGGCCCCCAACCCCCAGGAAGCAGTGCCCTCACCCCAAGGAGTGGGGGTCCTGGAGGGCCTGCGGGCAGAGGGGCACCTTGTGTGTCTGCCGTGGGGCCCAGTCCCGGAGCCGCTGGAAGACGCCGTCATTGCACTCGATGATCCAATGCTCATCAATGGGCGCCTCCTGCACCTTTGACGCTGCGATGGCCATGCCAAAGCCCACCTCCAGGACCCGGCCCCCTGGGCAGACACAGGGCGCCTGGCATCACTAGGTGGGGCGGGCTTAGGAGGCTGCCTGGAGGAGGGGCACAGGGCAGGGCAGGGCTGGGGAGACTGCCTGGAGGAGGGGGCGCAGGGCTGGGCTGGGGGTCTGCCTGGAGGGGGGCGTGCAGAGCAGGGCTGGAGAGGCTGCCTGGAGGAGGGGGTGTGGGGCAATGCTGGGGAGGCTGCCTGGAGGAGGGGGTGCGGGGCAGGGCTGGAGAGGCTGCCAGGAGGAGGGGATGCAGGGCTGGGGAGGCTGTCTGGAAGAGGGGGTGCAGAGCAGGGCTGGGGAGGCTTCCTGGAGGAGGGGGCACAGGGTAGGGCAGGGCTGAGCTGGGGGTCTGCTTGGAGGAGGGGGTGCAGGGCTGAACTAGGCTATGTGAGTCACATTTGCCACAGGACGGGAGGGCACCCTGGGCCAGCATGGACAGAGGCGGGCGGAACACAGTAGTCCTGAGCGGGAACAGCGTGGGCCCTGGCCAGCGGCCAGAGAGAGGATGACCAGCCAGGGAGGCCGAAGACGGCCGCTTTTGGGGCCAGGCCTGTGGGGAGGCGAGAGCCTTGGACTTTGAGCCCAGCCCACGCTGTTTGTCCCGGGTCCCTTATCTCTCGGGTTAGTTACTTTTCTCTCCCCCTCCCTCTATCCGAAAGTTGGATTTGCAAGAGTGGCCAGGCAAGACCTGGACTTGAGACTATCTGGGAGGGGAAGGACTGGTCCCCAGTGGGCCACACATGGGCCCCCCGCTCAATCCTGATTGGCACTGGACACTGGACGTGCCCATTTTCAGGGTGGGAACACTGAGGCCCGACCCCTGGACGGGGCCTGTGTGGGGCCAGGGAGTCCTTTCTTAGCAGCCCTTAGCGTCTGACGCCAGGCAGGCCAGGGCCACCCCGGGGACAGCTGTCTCCCTGAGCTCAGCTTTCCGAGTGCTATTCTTAGCCGGGCGAGTCGGGGCTGCTCTCCCAGGCAGGCAGAAGGGCAGCCTCTCCCTGGCACGACCCCTTCCTCCCGACCTCAGACAGGGAGCTGGGGACCCGGTTCCACCCAGTTTCACCCAGGTCTCACGTTTGAGGTCCCCATCTGGAGAGCGGGGGGCC | GACAGTGGGGGGGGCGGGGCGGATCCTGGGGCCGCTCAGAAACCTGGAGGGGAGTCACCCACTTTTCCTGTGTCCATGGGATGGGCGGGAGGTGAGGGAGCAGCCGCTGGAAGTAACAGTCGCACGCTCACTGCCGACTGGCCAAGCCCAGCGCCGGCGTTTACTTCACCTCAGGGACCCTGCAGTGGGCAGCAGTGACCCTCACAGAGAAGCTGGGAAAGCTGCTGGTGACACACAGCTGGGATCAGCCCTGGGCTGGTGGGACCCCTCACAGAGAAGCCGGGAAAGCTTCTGGTGACACACAGCTGGGATCAGCCCAGGGCTGGTGCGACACCCTGGACTCCCGGCCAGGAAGGCACGGAGGAGGGCATGGGTGTGGCCGGGCCGGGGTGGGGGCTCAGCCTTTGGTCACCAGGGGCGTGATCATCTGTGGGAAGGCGTAGTAGCGGCAGTCGGCCGGTGGGACCAGCGCCATCACCTCCGTACGGATGTTCTCCCTCCGGAAGCCGGCCTCCAGCAGCGCGGGCACCTGCGTCTCCTGGTCGGGGATGGCACCAGGTCACCTCTGAGGGCCATGGGGGTCACGTGCACCCTGGCGCCCACCCCTCATTGAAGAGTGTTTACAGATGGCAAGGCCCGGGTGGGCGGCTGCAGCTCCCGTGGGCACGTGGCAGGGCAGCCCTGGAAGCCCAGGTGTGAACGGGAATCTCCAGCTCCCCAGTGCGGGCAGCAGCTTCCCGGCTGTCCTGGAACCCCAGCCCCACACTCGAGCCACCCCCGGGCACCTACTCCACAGTTCTCCAGACCTTGCCAGTGTGGCGGGTGGAGCCAAAGAATCACACCAGAAAAAGAACACAGGCCACTAGTTCCCATTTTGGAAGAAAAGCTGCCCCAGGGGCCACAGGCACCCAGCCGGCTCTCACAACAGCAGCCCAGGGCAACCACATAGAGCCCTTCTCAGATAGGCCGCCTCCACCAGGCAGAGGGAACAGCGAGACAAGCACTGCTGAACCAGCAAAGACAGCCAGGTGGAGGCAGCTGGAGGGAGGGGAACACGCAGGGCTTAGGCTGAACCACAGGGCACTGGGGAGCCATGGGAGGTTGTTGAGCTGGTGAGGGACTTTGATTTCCATTTTTTTTGTTTTTGTTTTGTTGAGATGGAGTCTCGGTCTGTTGCCCAGGCTGGAGTACAACGGTGCAATCTCGGCTCACAGCAACCTCCGCCTCCCATGTTCAAGTGATTCTCATGCCTCAGCCTCCCGAGTAGCTGGAATTACAGGCGCCCGCCACCACGCCTGGCTAACTTTTGTATTTTTAGTAGAGATGGGATTCTGCCATGTTGGCCAGGCTAGGCTCAAACTCCTGGGCTCAAGTGATCCACCCGCCTTGGCCTTCCGAAGTGCCGGGATCACAGGTGTGAGCCACCACGCCCAGCCTGATTTCCATTTTTTTTTTAAATTTTCTTTCTTTCTTTCTTTCTTTCTTTTTTCTTGAGACAGGGTCTGGCTCTGTTACCCAGGCTGGAGTGCAGTGGTTCGATCTGGGCTCACTGCAACCTCTGCCCCTGGGGCCCAAGCAATCCTCCTACCTCAGCCTCCCAAGTAGCTGGGAGTACAGGCACACGCCACCACGCCCAGCTAGTTTTTTGTATTTTTTTTTTTTAGGAAAGATGAGGTCTTGCTCTGTAGCCCAGGCTGGTCTTGAACTCCTAGGCTCAAGCAATCTGCCCACCTCGGCCTTCCACAGTGCTGGGATTATAGACCTGAGCCACTGCTCCTGGCAGCCACTGCGCCAGGCAAAGGACTTTGATTTCTAAATGAACCAGCACAGTCCAGCCCACCCAGGGGGTCAGGAAGGGACCCTCCCCAGGTAGCAAGGTGGCTCCAGCAGCCCCTTCCCACCCCCATCCAAGGTCACTTCCTGGAGACCCATGGGGAACTTCAGGTGGGCGCACCTCAAACATGATGGTGATGTCTGAGTACTTGGACTTCATCAGCTCCCCCCAGGAGGTGAGGTTGCAGTAGGTGAGGACGCCCCCCGGCTTCAGCAGCGAAAGGCGTGGTTCTGTGGAAGGGGAGTGGCCAGTGGTCAGGACGGAGGTGGGGGTGTGGGCAGAGGGGCTTCCCCGAGGGCCTCCCGCATCCCAGCAAGTCAGAGAGAACCACCTTGATGAAGTTGAACTGGTGTGTGTGCCAGGTCTCCTCCGAGAGTGGGTACGTGTCGTACAGGATCCCTGCACGGAGAACAGAAGCCCACGCGGTCAGGGCCGGGCTCAGCGCCTCACCCAGCCTCACCCGGCTCATCCCCCAGCGGGTGGAGGTGCAGTGAGACGGGGCCGTGGGTAGAGGTGGGGCTCCCACACAGGCTTGAGAACCCCGAGATCGCCTCCAGGGCCCCTCCGTGAGCATGCCCATCCCCGGTGCTCCGCCATCCCACAGCCAGGCCCACACCCACTTGGGCTCTGTCCCCCCAGTGCACATCAGAGGGACCCCCACAAGCAAAGGAGGGGCTGCATTGGAGCTGGGGAGGCCCACCCTGTGATACGTCCCCTCACCCCTCACCATCAAAGTGACCGTCAGGCAGGGTGGGTGCCACATCCTCCCACAGGCCTTTCAAGGGGATGACCTTGCAGAGGGGAAAAGAAAAAGAGAGGACAGGGTAGAGAGGTCCCCAGGATCTCCCCACCTGCAGAAAGGGAGCGGCCAGGGGGACTCCCGAGAGAGAAGACCACCTCCTCCACCTCTGACAGCCCCAGGCCCCCAACCCCCAGGAAGCAGTGCCCTCACCCCAAGGAGTGGGGGTCCTGGAGGGCCTGCGGGCAGAGGGGCACCTTGTGTGTCTGCCGTGGGGCCCAGTCCCGGAGCCGCTGGAAGACGCCGTCATTGCACTCGATGATCCAATGCTCATCAATGGGCGCCTCCTGCACCTTTGACGCTGCGATGGCCATGCCAAAGCCCACCTCCAGGACCCGGCCCCCTGGGCAGACACAGGGCGCCTGGCATCACTAGGTGGGGCGGGCTTAGGAGGCTGCCTGGAGGAGGGGCACAGGGCAGGGCAGGGCTGGGGAGACTGCCTGGAGGAGGGGGCGCAGGGCTGGGCTGGGGGTCTGCCTGGAGGGGGGCGTGCAGAGCAGGGCTGGAGAGGCTGCCTGGAGGAGGGGGTGTGGGGCAATGCTGGGGAGGCTGCCTGGAGGAGGGGGTGCGGGGCAGGGCTGGAGAGGCTGCCAGGAGGAGGGGATGCAGGGCTGGGGAGGCTGTCTGGAAGAGGGGGTGCAGAGCAGGGCTGGGGAGGCTTCCTGGAGGAGGGGGCACAGGGTAGGGCAGGGCTGAGCTGGGGGTCTGCTTGGAGGAGGGGGTGCAGGGCTGAACTAGGCTATGTGAGTCACATTTGCCACAGGACGGGAGGGCACCCTGGGCCAGCATGGACAGAGGCGGGCGGAACACAGTAGTCCTGAGCGGGAACAGCGTGGGCCCTGGCCAGCGGCCAGAGAGAGGATGACCAGCCAGGGAGGCCGAAGACGGCCGCTTTTGGGGCCAGGCCTGTGGGGAGGCGAGAGCCTTGGACTTTGAGCCCAGCCCACGCTGTTTGTCCCGGGTCCCTTATCTCTCGGGTTAGTTACTTTTCTCTCCCCCTCCCTCTATCCGAAAGTTGGATTTGCAAGAGTGGCCAGGCAAGACCTGGACTTGAGACTATCTGGGAGGGGAAGGACTGGTCCCCAGTGGGCCACACATGGGCCCCCCGCTCAATCCTGATTGGCACTGGACACTGGACGTGCCCATTTTCAGGGTGGGAACACTGAGGCCCGACCCCTGGACGGGGCCTGTGTGGGGCCAGGGAGTCCTTTCTTAGCAGCCCTTAGCGTCTGACGCCAGGCAGGCCAGGGCCACCCCGGGGACAGCTGTCTCCCTGAGCTCAGCTTTCCGAGTGCTATTCTTAGCCGGGCGAGTCGGGGCTGCTCTCCCAGGCAGGCAGAAGGGCAGCCTCTCCCTGGCACGACCCCTTCCTCCCGACCTCAGACAGGGAGCTGGGGACCCGGTTCCACCCAGTTTCACCCAGGTCTCACGTTTGAGGTCCCCATCTGGAGAGCGGGGGGCCN | pathogenic | 293,345 |
Does the chromosome 19 mutation at position 1399138 within gene GAMT (guanidinoacetate N-methyltransferase) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Cerebral_creatine_deficiency_syndrome', 'Deficiency_of_guanidinoacetate_methyltransferase'] | CACTGCCGACTGGCCAAGCCCAGCGCCGGCGTTTACTTCACCTCAGGGACCCTGCAGTGGGCAGCAGTGACCCTCACAGAGAAGCTGGGAAAGCTGCTGGTGACACACAGCTGGGATCAGCCCTGGGCTGGTGGGACCCCTCACAGAGAAGCCGGGAAAGCTTCTGGTGACACACAGCTGGGATCAGCCCAGGGCTGGTGCGACACCCTGGACTCCCGGCCAGGAAGGCACGGAGGAGGGCATGGGTGTGGCCGGGCCGGGGTGGGGGCTCAGCCTTTGGTCACCAGGGGCGTGATCATCTGTGGGAAGGCGTAGTAGCGGCAGTCGGCCGGTGGGACCAGCGCCATCACCTCCGTACGGATGTTCTCCCTCCGGAAGCCGGCCTCCAGCAGCGCGGGCACCTGCGTCTCCTGGTCGGGGATGGCACCAGGTCACCTCTGAGGGCCATGGGGGTCACGTGCACCCTGGCGCCCACCCCTCATTGAAGAGTGTTTACAGATGGCAAGGCCCGGGTGGGCGGCTGCAGCTCCCGTGGGCACGTGGCAGGGCAGCCCTGGAAGCCCAGGTGTGAACGGGAATCTCCAGCTCCCCAGTGCGGGCAGCAGCTTCCCGGCTGTCCTGGAACCCCAGCCCCACACTCGAGCCACCCCCGGGCACCTACTCCACAGTTCTCCAGACCTTGCCAGTGTGGCGGGTGGAGCCAAAGAATCACACCAGAAAAAGAACACAGGCCACTAGTTCCCATTTTGGAAGAAAAGCTGCCCCAGGGGCCACAGGCACCCAGCCGGCTCTCACAACAGCAGCCCAGGGCAACCACATAGAGCCCTTCTCAGATAGGCCGCCTCCACCAGGCAGAGGGAACAGCGAGACAAGCACTGCTGAACCAGCAAAGACAGCCAGGTGGAGGCAGCTGGAGGGAGGGGAACACGCAGGGCTTAGGCTGAACCACAGGGCACTGGGGAGCCATGGGAGGTTGTTGAGCTGGTGAGGGACTTTGATTTCCATTTTTTTTGTTTTTGTTTTGTTGAGATGGAGTCTCGGTCTGTTGCCCAGGCTGGAGTACAACGGTGCAATCTCGGCTCACAGCAACCTCCGCCTCCCATGTTCAAGTGATTCTCATGCCTCAGCCTCCCGAGTAGCTGGAATTACAGGCGCCCGCCACCACGCCTGGCTAACTTTTGTATTTTTAGTAGAGATGGGATTCTGCCATGTTGGCCAGGCTAGGCTCAAACTCCTGGGCTCAAGTGATCCACCCGCCTTGGCCTTCCGAAGTGCCGGGATCACAGGTGTGAGCCACCACGCCCAGCCTGATTTCCATTTTTTTTTTAAATTTTCTTTCTTTCTTTCTTTCTTTCTTTTTTCTTGAGACAGGGTCTGGCTCTGTTACCCAGGCTGGAGTGCAGTGGTTCGATCTGGGCTCACTGCAACCTCTGCCCCTGGGGCCCAAGCAATCCTCCTACCTCAGCCTCCCAAGTAGCTGGGAGTACAGGCACACGCCACCACGCCCAGCTAGTTTTTTGTATTTTTTTTTTTTAGGAAAGATGAGGTCTTGCTCTGTAGCCCAGGCTGGTCTTGAACTCCTAGGCTCAAGCAATCTGCCCACCTCGGCCTTCCACAGTGCTGGGATTATAGACCTGAGCCACTGCTCCTGGCAGCCACTGCGCCAGGCAAAGGACTTTGATTTCTAAATGAACCAGCACAGTCCAGCCCACCCAGGGGGTCAGGAAGGGACCCTCCCCAGGTAGCAAGGTGGCTCCAGCAGCCCCTTCCCACCCCCATCCAAGGTCACTTCCTGGAGACCCATGGGGAACTTCAGGTGGGCGCACCTCAAACATGATGGTGATGTCTGAGTACTTGGACTTCATCAGCTCCCCCCAGGAGGTGAGGTTGCAGTAGGTGAGGACGCCCCCCGGCTTCAGCAGGCGAAAGGCGTGGTTCTGTGGAAGGGGAGTGGCCAGTGGTCAGGACGGAGGTGGGGGTGTGGGCAGAGGGGCTTCCCCGAGGGCCTCCCGCATCCCAGCAAGTCAGAGAGAACCACCTTGATGAAGTTGAACTGGTGTGTGTGCCAGGTCTCCTCCGAGAGTGGGTACGTGTCGTACAGGATCCCTGCACGGAGAACAGAAGCCCACGCGGTCAGGGCCGGGCTCAGCGCCTCACCCAGCCTCACCCGGCTCATCCCCCAGCGGGTGGAGGTGCAGTGAGACGGGGCCGTGGGTAGAGGTGGGGCTCCCACACAGGCTTGAGAACCCCGAGATCGCCTCCAGGGCCCCTCCGTGAGCATGCCCATCCCCGGTGCTCCGCCATCCCACAGCCAGGCCCACACCCACTTGGGCTCTGTCCCCCCAGTGCACATCAGAGGGACCCCCACAAGCAAAGGAGGGGCTGCATTGGAGCTGGGGAGGCCCACCCTGTGATACGTCCCCTCACCCCTCACCATCAAAGTGACCGTCAGGCAGGGTGGGTGCCACATCCTCCCACAGGCCTTTCAAGGGGATGACCTTGCAGAGGGGAAAAGAAAAAGAGAGGACAGGGTAGAGAGGTCCCCAGGATCTCCCCACCTGCAGAAAGGGAGCGGCCAGGGGGACTCCCGAGAGAGAAGACCACCTCCTCCACCTCTGACAGCCCCAGGCCCCCAACCCCCAGGAAGCAGTGCCCTCACCCCAAGGAGTGGGGGTCCTGGAGGGCCTGCGGGCAGAGGGGCACCTTGTGTGTCTGCCGTGGGGCCCAGTCCCGGAGCCGCTGGAAGACGCCGTCATTGCACTCGATGATCCAATGCTCATCAATGGGCGCCTCCTGCACCTTTGACGCTGCGATGGCCATGCCAAAGCCCACCTCCAGGACCCGGCCCCCTGGGCAGACACAGGGCGCCTGGCATCACTAGGTGGGGCGGGCTTAGGAGGCTGCCTGGAGGAGGGGCACAGGGCAGGGCAGGGCTGGGGAGACTGCCTGGAGGAGGGGGCGCAGGGCTGGGCTGGGGGTCTGCCTGGAGGGGGGCGTGCAGAGCAGGGCTGGAGAGGCTGCCTGGAGGAGGGGGTGTGGGGCAATGCTGGGGAGGCTGCCTGGAGGAGGGGGTGCGGGGCAGGGCTGGAGAGGCTGCCAGGAGGAGGGGATGCAGGGCTGGGGAGGCTGTCTGGAAGAGGGGGTGCAGAGCAGGGCTGGGGAGGCTTCCTGGAGGAGGGGGCACAGGGTAGGGCAGGGCTGAGCTGGGGGTCTGCTTGGAGGAGGGGGTGCAGGGCTGAACTAGGCTATGTGAGTCACATTTGCCACAGGACGGGAGGGCACCCTGGGCCAGCATGGACAGAGGCGGGCGGAACACAGTAGTCCTGAGCGGGAACAGCGTGGGCCCTGGCCAGCGGCCAGAGAGAGGATGACCAGCCAGGGAGGCCGAAGACGGCCGCTTTTGGGGCCAGGCCTGTGGGGAGGCGAGAGCCTTGGACTTTGAGCCCAGCCCACGCTGTTTGTCCCGGGTCCCTTATCTCTCGGGTTAGTTACTTTTCTCTCCCCCTCCCTCTATCCGAAAGTTGGATTTGCAAGAGTGGCCAGGCAAGACCTGGACTTGAGACTATCTGGGAGGGGAAGGACTGGTCCCCAGTGGGCCACACATGGGCCCCCCGCTCAATCCTGATTGGCACTGGACACTGGACGTGCCCATTTTCAGGGTGGGAACACTGAGGCCCGACCCCTGGACGGGGCCTGTGTGGGGCCAGGGAGTCCTTTCTTAGCAGCCCTTAGCGTCTGACGCCAGGCAGGCCAGGGCCACCCCGGGGACAGCTGTCTCCCTGAGCTCAGCTTTCCGAGTGCTATTCTTAGCCGGGCGAGTCGGGGCTGCTCTCCCAGGCAGGCAGAAGGGCAGCCTCTCCCTGGCACGACCCCTTCCTCCCGACCTCAGACAGGGAGCTGGGGACCCGGTTCCACCCAGTTTCACCCAGGTCTCACGTTTGAGGTCCCCATCTGGAGAGCGGGGGGCCTCACTCCCCCTGGAGAGGAAGTTTCTGGTACTTAGGCGGTGCCTAACGTGTGCGGGCCCCACGCCTGCCGCACTCCCCGTGAACGCCTCCGTGTGCCCCCACCTGCAGCCCCACTTCCCAGGCGAGGA | CACTGCCGACTGGCCAAGCCCAGCGCCGGCGTTTACTTCACCTCAGGGACCCTGCAGTGGGCAGCAGTGACCCTCACAGAGAAGCTGGGAAAGCTGCTGGTGACACACAGCTGGGATCAGCCCTGGGCTGGTGGGACCCCTCACAGAGAAGCCGGGAAAGCTTCTGGTGACACACAGCTGGGATCAGCCCAGGGCTGGTGCGACACCCTGGACTCCCGGCCAGGAAGGCACGGAGGAGGGCATGGGTGTGGCCGGGCCGGGGTGGGGGCTCAGCCTTTGGTCACCAGGGGCGTGATCATCTGTGGGAAGGCGTAGTAGCGGCAGTCGGCCGGTGGGACCAGCGCCATCACCTCCGTACGGATGTTCTCCCTCCGGAAGCCGGCCTCCAGCAGCGCGGGCACCTGCGTCTCCTGGTCGGGGATGGCACCAGGTCACCTCTGAGGGCCATGGGGGTCACGTGCACCCTGGCGCCCACCCCTCATTGAAGAGTGTTTACAGATGGCAAGGCCCGGGTGGGCGGCTGCAGCTCCCGTGGGCACGTGGCAGGGCAGCCCTGGAAGCCCAGGTGTGAACGGGAATCTCCAGCTCCCCAGTGCGGGCAGCAGCTTCCCGGCTGTCCTGGAACCCCAGCCCCACACTCGAGCCACCCCCGGGCACCTACTCCACAGTTCTCCAGACCTTGCCAGTGTGGCGGGTGGAGCCAAAGAATCACACCAGAAAAAGAACACAGGCCACTAGTTCCCATTTTGGAAGAAAAGCTGCCCCAGGGGCCACAGGCACCCAGCCGGCTCTCACAACAGCAGCCCAGGGCAACCACATAGAGCCCTTCTCAGATAGGCCGCCTCCACCAGGCAGAGGGAACAGCGAGACAAGCACTGCTGAACCAGCAAAGACAGCCAGGTGGAGGCAGCTGGAGGGAGGGGAACACGCAGGGCTTAGGCTGAACCACAGGGCACTGGGGAGCCATGGGAGGTTGTTGAGCTGGTGAGGGACTTTGATTTCCATTTTTTTTGTTTTTGTTTTGTTGAGATGGAGTCTCGGTCTGTTGCCCAGGCTGGAGTACAACGGTGCAATCTCGGCTCACAGCAACCTCCGCCTCCCATGTTCAAGTGATTCTCATGCCTCAGCCTCCCGAGTAGCTGGAATTACAGGCGCCCGCCACCACGCCTGGCTAACTTTTGTATTTTTAGTAGAGATGGGATTCTGCCATGTTGGCCAGGCTAGGCTCAAACTCCTGGGCTCAAGTGATCCACCCGCCTTGGCCTTCCGAAGTGCCGGGATCACAGGTGTGAGCCACCACGCCCAGCCTGATTTCCATTTTTTTTTTAAATTTTCTTTCTTTCTTTCTTTCTTTCTTTTTTCTTGAGACAGGGTCTGGCTCTGTTACCCAGGCTGGAGTGCAGTGGTTCGATCTGGGCTCACTGCAACCTCTGCCCCTGGGGCCCAAGCAATCCTCCTACCTCAGCCTCCCAAGTAGCTGGGAGTACAGGCACACGCCACCACGCCCAGCTAGTTTTTTGTATTTTTTTTTTTTAGGAAAGATGAGGTCTTGCTCTGTAGCCCAGGCTGGTCTTGAACTCCTAGGCTCAAGCAATCTGCCCACCTCGGCCTTCCACAGTGCTGGGATTATAGACCTGAGCCACTGCTCCTGGCAGCCACTGCGCCAGGCAAAGGACTTTGATTTCTAAATGAACCAGCACAGTCCAGCCCACCCAGGGGGTCAGGAAGGGACCCTCCCCAGGTAGCAAGGTGGCTCCAGCAGCCCCTTCCCACCCCCATCCAAGGTCACTTCCTGGAGACCCATGGGGAACTTCAGGTGGGCGCACCTCAAACATGATGGTGATGTCTGAGTACTTGGACTTCATCAGCTCCCCCCAGGAGGTGAGGTTGCAGTAGGTGAGGACGCCCCCCGGCTTCAGCAGGCGAAAGGCGTGGTTCTGTGGAAGGGGAGTGGCCAGTGGTCAGGACGGAGGTGGGGGTGTGGGCAGAGGGGCTTCCCCGAGGGCCTCCCGCATCCCAGCAAGTCAGAGAGAACCACCTTGATGAAGTTGGTGTGTGTGCCAGGTCTCCTCCGAGAGTGGGTACGTGTCGTACAGGATCCCTGCACGGAGAACAGAAGCCCACGCGGTCAGGGCCGGGCTCAGCGCCTCACCCAGCCTCACCCGGCTCATCCCCCAGCGGGTGGAGGTGCAGTGAGACGGGGCCGTGGGTAGAGGTGGGGCTCCCACACAGGCTTGAGAACCCCGAGATCGCCTCCAGGGCCCCTCCGTGAGCATGCCCATCCCCGGTGCTCCGCCATCCCACAGCCAGGCCCACACCCACTTGGGCTCTGTCCCCCCAGTGCACATCAGAGGGACCCCCACAAGCAAAGGAGGGGCTGCATTGGAGCTGGGGAGGCCCACCCTGTGATACGTCCCCTCACCCCTCACCATCAAAGTGACCGTCAGGCAGGGTGGGTGCCACATCCTCCCACAGGCCTTTCAAGGGGATGACCTTGCAGAGGGGAAAAGAAAAAGAGAGGACAGGGTAGAGAGGTCCCCAGGATCTCCCCACCTGCAGAAAGGGAGCGGCCAGGGGGACTCCCGAGAGAGAAGACCACCTCCTCCACCTCTGACAGCCCCAGGCCCCCAACCCCCAGGAAGCAGTGCCCTCACCCCAAGGAGTGGGGGTCCTGGAGGGCCTGCGGGCAGAGGGGCACCTTGTGTGTCTGCCGTGGGGCCCAGTCCCGGAGCCGCTGGAAGACGCCGTCATTGCACTCGATGATCCAATGCTCATCAATGGGCGCCTCCTGCACCTTTGACGCTGCGATGGCCATGCCAAAGCCCACCTCCAGGACCCGGCCCCCTGGGCAGACACAGGGCGCCTGGCATCACTAGGTGGGGCGGGCTTAGGAGGCTGCCTGGAGGAGGGGCACAGGGCAGGGCAGGGCTGGGGAGACTGCCTGGAGGAGGGGGCGCAGGGCTGGGCTGGGGGTCTGCCTGGAGGGGGGCGTGCAGAGCAGGGCTGGAGAGGCTGCCTGGAGGAGGGGGTGTGGGGCAATGCTGGGGAGGCTGCCTGGAGGAGGGGGTGCGGGGCAGGGCTGGAGAGGCTGCCAGGAGGAGGGGATGCAGGGCTGGGGAGGCTGTCTGGAAGAGGGGGTGCAGAGCAGGGCTGGGGAGGCTTCCTGGAGGAGGGGGCACAGGGTAGGGCAGGGCTGAGCTGGGGGTCTGCTTGGAGGAGGGGGTGCAGGGCTGAACTAGGCTATGTGAGTCACATTTGCCACAGGACGGGAGGGCACCCTGGGCCAGCATGGACAGAGGCGGGCGGAACACAGTAGTCCTGAGCGGGAACAGCGTGGGCCCTGGCCAGCGGCCAGAGAGAGGATGACCAGCCAGGGAGGCCGAAGACGGCCGCTTTTGGGGCCAGGCCTGTGGGGAGGCGAGAGCCTTGGACTTTGAGCCCAGCCCACGCTGTTTGTCCCGGGTCCCTTATCTCTCGGGTTAGTTACTTTTCTCTCCCCCTCCCTCTATCCGAAAGTTGGATTTGCAAGAGTGGCCAGGCAAGACCTGGACTTGAGACTATCTGGGAGGGGAAGGACTGGTCCCCAGTGGGCCACACATGGGCCCCCCGCTCAATCCTGATTGGCACTGGACACTGGACGTGCCCATTTTCAGGGTGGGAACACTGAGGCCCGACCCCTGGACGGGGCCTGTGTGGGGCCAGGGAGTCCTTTCTTAGCAGCCCTTAGCGTCTGACGCCAGGCAGGCCAGGGCCACCCCGGGGACAGCTGTCTCCCTGAGCTCAGCTTTCCGAGTGCTATTCTTAGCCGGGCGAGTCGGGGCTGCTCTCCCAGGCAGGCAGAAGGGCAGCCTCTCCCTGGCACGACCCCTTCCTCCCGACCTCAGACAGGGAGCTGGGGACCCGGTTCCACCCAGTTTCACCCAGGTCTCACGTTTGAGGTCCCCATCTGGAGAGCGGGGGGCCTCACTCCCCCTGGAGAGGAAGTTTCTGGTACTTAGGCGGTGCCTAACGTGTGCGGGCCCCACGCCTGCCGCACTCCCCGTGAACGCCTCCGTGTGCCCCCACCTGCAGCCCCACTTCCCAGGCGAGGANNNNN | pathogenic | 293,351 |
Determine if the mutation at chromosome 19, position 1399144 in gene GAMT (guanidinoacetate N-methyltransferase) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Cerebral_creatine_deficiency_syndrome', 'Deficiency_of_guanidinoacetate_methyltransferase'] | CGACTGGCCAAGCCCAGCGCCGGCGTTTACTTCACCTCAGGGACCCTGCAGTGGGCAGCAGTGACCCTCACAGAGAAGCTGGGAAAGCTGCTGGTGACACACAGCTGGGATCAGCCCTGGGCTGGTGGGACCCCTCACAGAGAAGCCGGGAAAGCTTCTGGTGACACACAGCTGGGATCAGCCCAGGGCTGGTGCGACACCCTGGACTCCCGGCCAGGAAGGCACGGAGGAGGGCATGGGTGTGGCCGGGCCGGGGTGGGGGCTCAGCCTTTGGTCACCAGGGGCGTGATCATCTGTGGGAAGGCGTAGTAGCGGCAGTCGGCCGGTGGGACCAGCGCCATCACCTCCGTACGGATGTTCTCCCTCCGGAAGCCGGCCTCCAGCAGCGCGGGCACCTGCGTCTCCTGGTCGGGGATGGCACCAGGTCACCTCTGAGGGCCATGGGGGTCACGTGCACCCTGGCGCCCACCCCTCATTGAAGAGTGTTTACAGATGGCAAGGCCCGGGTGGGCGGCTGCAGCTCCCGTGGGCACGTGGCAGGGCAGCCCTGGAAGCCCAGGTGTGAACGGGAATCTCCAGCTCCCCAGTGCGGGCAGCAGCTTCCCGGCTGTCCTGGAACCCCAGCCCCACACTCGAGCCACCCCCGGGCACCTACTCCACAGTTCTCCAGACCTTGCCAGTGTGGCGGGTGGAGCCAAAGAATCACACCAGAAAAAGAACACAGGCCACTAGTTCCCATTTTGGAAGAAAAGCTGCCCCAGGGGCCACAGGCACCCAGCCGGCTCTCACAACAGCAGCCCAGGGCAACCACATAGAGCCCTTCTCAGATAGGCCGCCTCCACCAGGCAGAGGGAACAGCGAGACAAGCACTGCTGAACCAGCAAAGACAGCCAGGTGGAGGCAGCTGGAGGGAGGGGAACACGCAGGGCTTAGGCTGAACCACAGGGCACTGGGGAGCCATGGGAGGTTGTTGAGCTGGTGAGGGACTTTGATTTCCATTTTTTTTGTTTTTGTTTTGTTGAGATGGAGTCTCGGTCTGTTGCCCAGGCTGGAGTACAACGGTGCAATCTCGGCTCACAGCAACCTCCGCCTCCCATGTTCAAGTGATTCTCATGCCTCAGCCTCCCGAGTAGCTGGAATTACAGGCGCCCGCCACCACGCCTGGCTAACTTTTGTATTTTTAGTAGAGATGGGATTCTGCCATGTTGGCCAGGCTAGGCTCAAACTCCTGGGCTCAAGTGATCCACCCGCCTTGGCCTTCCGAAGTGCCGGGATCACAGGTGTGAGCCACCACGCCCAGCCTGATTTCCATTTTTTTTTTAAATTTTCTTTCTTTCTTTCTTTCTTTCTTTTTTCTTGAGACAGGGTCTGGCTCTGTTACCCAGGCTGGAGTGCAGTGGTTCGATCTGGGCTCACTGCAACCTCTGCCCCTGGGGCCCAAGCAATCCTCCTACCTCAGCCTCCCAAGTAGCTGGGAGTACAGGCACACGCCACCACGCCCAGCTAGTTTTTTGTATTTTTTTTTTTTAGGAAAGATGAGGTCTTGCTCTGTAGCCCAGGCTGGTCTTGAACTCCTAGGCTCAAGCAATCTGCCCACCTCGGCCTTCCACAGTGCTGGGATTATAGACCTGAGCCACTGCTCCTGGCAGCCACTGCGCCAGGCAAAGGACTTTGATTTCTAAATGAACCAGCACAGTCCAGCCCACCCAGGGGGTCAGGAAGGGACCCTCCCCAGGTAGCAAGGTGGCTCCAGCAGCCCCTTCCCACCCCCATCCAAGGTCACTTCCTGGAGACCCATGGGGAACTTCAGGTGGGCGCACCTCAAACATGATGGTGATGTCTGAGTACTTGGACTTCATCAGCTCCCCCCAGGAGGTGAGGTTGCAGTAGGTGAGGACGCCCCCCGGCTTCAGCAGGCGAAAGGCGTGGTTCTGTGGAAGGGGAGTGGCCAGTGGTCAGGACGGAGGTGGGGGTGTGGGCAGAGGGGCTTCCCCGAGGGCCTCCCGCATCCCAGCAAGTCAGAGAGAACCACCTTGATGAAGTTGAACTGGTGTGTGTGCCAGGTCTCCTCCGAGAGTGGGTACGTGTCGTACAGGATCCCTGCACGGAGAACAGAAGCCCACGCGGTCAGGGCCGGGCTCAGCGCCTCACCCAGCCTCACCCGGCTCATCCCCCAGCGGGTGGAGGTGCAGTGAGACGGGGCCGTGGGTAGAGGTGGGGCTCCCACACAGGCTTGAGAACCCCGAGATCGCCTCCAGGGCCCCTCCGTGAGCATGCCCATCCCCGGTGCTCCGCCATCCCACAGCCAGGCCCACACCCACTTGGGCTCTGTCCCCCCAGTGCACATCAGAGGGACCCCCACAAGCAAAGGAGGGGCTGCATTGGAGCTGGGGAGGCCCACCCTGTGATACGTCCCCTCACCCCTCACCATCAAAGTGACCGTCAGGCAGGGTGGGTGCCACATCCTCCCACAGGCCTTTCAAGGGGATGACCTTGCAGAGGGGAAAAGAAAAAGAGAGGACAGGGTAGAGAGGTCCCCAGGATCTCCCCACCTGCAGAAAGGGAGCGGCCAGGGGGACTCCCGAGAGAGAAGACCACCTCCTCCACCTCTGACAGCCCCAGGCCCCCAACCCCCAGGAAGCAGTGCCCTCACCCCAAGGAGTGGGGGTCCTGGAGGGCCTGCGGGCAGAGGGGCACCTTGTGTGTCTGCCGTGGGGCCCAGTCCCGGAGCCGCTGGAAGACGCCGTCATTGCACTCGATGATCCAATGCTCATCAATGGGCGCCTCCTGCACCTTTGACGCTGCGATGGCCATGCCAAAGCCCACCTCCAGGACCCGGCCCCCTGGGCAGACACAGGGCGCCTGGCATCACTAGGTGGGGCGGGCTTAGGAGGCTGCCTGGAGGAGGGGCACAGGGCAGGGCAGGGCTGGGGAGACTGCCTGGAGGAGGGGGCGCAGGGCTGGGCTGGGGGTCTGCCTGGAGGGGGGCGTGCAGAGCAGGGCTGGAGAGGCTGCCTGGAGGAGGGGGTGTGGGGCAATGCTGGGGAGGCTGCCTGGAGGAGGGGGTGCGGGGCAGGGCTGGAGAGGCTGCCAGGAGGAGGGGATGCAGGGCTGGGGAGGCTGTCTGGAAGAGGGGGTGCAGAGCAGGGCTGGGGAGGCTTCCTGGAGGAGGGGGCACAGGGTAGGGCAGGGCTGAGCTGGGGGTCTGCTTGGAGGAGGGGGTGCAGGGCTGAACTAGGCTATGTGAGTCACATTTGCCACAGGACGGGAGGGCACCCTGGGCCAGCATGGACAGAGGCGGGCGGAACACAGTAGTCCTGAGCGGGAACAGCGTGGGCCCTGGCCAGCGGCCAGAGAGAGGATGACCAGCCAGGGAGGCCGAAGACGGCCGCTTTTGGGGCCAGGCCTGTGGGGAGGCGAGAGCCTTGGACTTTGAGCCCAGCCCACGCTGTTTGTCCCGGGTCCCTTATCTCTCGGGTTAGTTACTTTTCTCTCCCCCTCCCTCTATCCGAAAGTTGGATTTGCAAGAGTGGCCAGGCAAGACCTGGACTTGAGACTATCTGGGAGGGGAAGGACTGGTCCCCAGTGGGCCACACATGGGCCCCCCGCTCAATCCTGATTGGCACTGGACACTGGACGTGCCCATTTTCAGGGTGGGAACACTGAGGCCCGACCCCTGGACGGGGCCTGTGTGGGGCCAGGGAGTCCTTTCTTAGCAGCCCTTAGCGTCTGACGCCAGGCAGGCCAGGGCCACCCCGGGGACAGCTGTCTCCCTGAGCTCAGCTTTCCGAGTGCTATTCTTAGCCGGGCGAGTCGGGGCTGCTCTCCCAGGCAGGCAGAAGGGCAGCCTCTCCCTGGCACGACCCCTTCCTCCCGACCTCAGACAGGGAGCTGGGGACCCGGTTCCACCCAGTTTCACCCAGGTCTCACGTTTGAGGTCCCCATCTGGAGAGCGGGGGGCCTCACTCCCCCTGGAGAGGAAGTTTCTGGTACTTAGGCGGTGCCTAACGTGTGCGGGCCCCACGCCTGCCGCACTCCCCGTGAACGCCTCCGTGTGCCCCCACCTGCAGCCCCACTTCCCAGGCGAGGAGACAGA | CGACTGGCCAAGCCCAGCGCCGGCGTTTACTTCACCTCAGGGACCCTGCAGTGGGCAGCAGTGACCCTCACAGAGAAGCTGGGAAAGCTGCTGGTGACACACAGCTGGGATCAGCCCTGGGCTGGTGGGACCCCTCACAGAGAAGCCGGGAAAGCTTCTGGTGACACACAGCTGGGATCAGCCCAGGGCTGGTGCGACACCCTGGACTCCCGGCCAGGAAGGCACGGAGGAGGGCATGGGTGTGGCCGGGCCGGGGTGGGGGCTCAGCCTTTGGTCACCAGGGGCGTGATCATCTGTGGGAAGGCGTAGTAGCGGCAGTCGGCCGGTGGGACCAGCGCCATCACCTCCGTACGGATGTTCTCCCTCCGGAAGCCGGCCTCCAGCAGCGCGGGCACCTGCGTCTCCTGGTCGGGGATGGCACCAGGTCACCTCTGAGGGCCATGGGGGTCACGTGCACCCTGGCGCCCACCCCTCATTGAAGAGTGTTTACAGATGGCAAGGCCCGGGTGGGCGGCTGCAGCTCCCGTGGGCACGTGGCAGGGCAGCCCTGGAAGCCCAGGTGTGAACGGGAATCTCCAGCTCCCCAGTGCGGGCAGCAGCTTCCCGGCTGTCCTGGAACCCCAGCCCCACACTCGAGCCACCCCCGGGCACCTACTCCACAGTTCTCCAGACCTTGCCAGTGTGGCGGGTGGAGCCAAAGAATCACACCAGAAAAAGAACACAGGCCACTAGTTCCCATTTTGGAAGAAAAGCTGCCCCAGGGGCCACAGGCACCCAGCCGGCTCTCACAACAGCAGCCCAGGGCAACCACATAGAGCCCTTCTCAGATAGGCCGCCTCCACCAGGCAGAGGGAACAGCGAGACAAGCACTGCTGAACCAGCAAAGACAGCCAGGTGGAGGCAGCTGGAGGGAGGGGAACACGCAGGGCTTAGGCTGAACCACAGGGCACTGGGGAGCCATGGGAGGTTGTTGAGCTGGTGAGGGACTTTGATTTCCATTTTTTTTGTTTTTGTTTTGTTGAGATGGAGTCTCGGTCTGTTGCCCAGGCTGGAGTACAACGGTGCAATCTCGGCTCACAGCAACCTCCGCCTCCCATGTTCAAGTGATTCTCATGCCTCAGCCTCCCGAGTAGCTGGAATTACAGGCGCCCGCCACCACGCCTGGCTAACTTTTGTATTTTTAGTAGAGATGGGATTCTGCCATGTTGGCCAGGCTAGGCTCAAACTCCTGGGCTCAAGTGATCCACCCGCCTTGGCCTTCCGAAGTGCCGGGATCACAGGTGTGAGCCACCACGCCCAGCCTGATTTCCATTTTTTTTTTAAATTTTCTTTCTTTCTTTCTTTCTTTCTTTTTTCTTGAGACAGGGTCTGGCTCTGTTACCCAGGCTGGAGTGCAGTGGTTCGATCTGGGCTCACTGCAACCTCTGCCCCTGGGGCCCAAGCAATCCTCCTACCTCAGCCTCCCAAGTAGCTGGGAGTACAGGCACACGCCACCACGCCCAGCTAGTTTTTTGTATTTTTTTTTTTTAGGAAAGATGAGGTCTTGCTCTGTAGCCCAGGCTGGTCTTGAACTCCTAGGCTCAAGCAATCTGCCCACCTCGGCCTTCCACAGTGCTGGGATTATAGACCTGAGCCACTGCTCCTGGCAGCCACTGCGCCAGGCAAAGGACTTTGATTTCTAAATGAACCAGCACAGTCCAGCCCACCCAGGGGGTCAGGAAGGGACCCTCCCCAGGTAGCAAGGTGGCTCCAGCAGCCCCTTCCCACCCCCATCCAAGGTCACTTCCTGGAGACCCATGGGGAACTTCAGGTGGGCGCACCTCAAACATGATGGTGATGTCTGAGTACTTGGACTTCATCAGCTCCCCCCAGGAGGTGAGGTTGCAGTAGGTGAGGACGCCCCCCGGCTTCAGCAGGCGAAAGGCGTGGTTCTGTGGAAGGGGAGTGGCCAGTGGTCAGGACGGAGGTGGGGGTGTGGGCAGAGGGGCTTCCCCGAGGGCCTCCCGCATCCCAGCAAGTCAGAGAGAACCACCTTGATGAAGTTGAACTGGGTGTGTGTGCCAGGTCTCCTCCGAGAGTGGGTACGTGTCGTACAGGATCCCTGCACGGAGAACAGAAGCCCACGCGGTCAGGGCCGGGCTCAGCGCCTCACCCAGCCTCACCCGGCTCATCCCCCAGCGGGTGGAGGTGCAGTGAGACGGGGCCGTGGGTAGAGGTGGGGCTCCCACACAGGCTTGAGAACCCCGAGATCGCCTCCAGGGCCCCTCCGTGAGCATGCCCATCCCCGGTGCTCCGCCATCCCACAGCCAGGCCCACACCCACTTGGGCTCTGTCCCCCCAGTGCACATCAGAGGGACCCCCACAAGCAAAGGAGGGGCTGCATTGGAGCTGGGGAGGCCCACCCTGTGATACGTCCCCTCACCCCTCACCATCAAAGTGACCGTCAGGCAGGGTGGGTGCCACATCCTCCCACAGGCCTTTCAAGGGGATGACCTTGCAGAGGGGAAAAGAAAAAGAGAGGACAGGGTAGAGAGGTCCCCAGGATCTCCCCACCTGCAGAAAGGGAGCGGCCAGGGGGACTCCCGAGAGAGAAGACCACCTCCTCCACCTCTGACAGCCCCAGGCCCCCAACCCCCAGGAAGCAGTGCCCTCACCCCAAGGAGTGGGGGTCCTGGAGGGCCTGCGGGCAGAGGGGCACCTTGTGTGTCTGCCGTGGGGCCCAGTCCCGGAGCCGCTGGAAGACGCCGTCATTGCACTCGATGATCCAATGCTCATCAATGGGCGCCTCCTGCACCTTTGACGCTGCGATGGCCATGCCAAAGCCCACCTCCAGGACCCGGCCCCCTGGGCAGACACAGGGCGCCTGGCATCACTAGGTGGGGCGGGCTTAGGAGGCTGCCTGGAGGAGGGGCACAGGGCAGGGCAGGGCTGGGGAGACTGCCTGGAGGAGGGGGCGCAGGGCTGGGCTGGGGGTCTGCCTGGAGGGGGGCGTGCAGAGCAGGGCTGGAGAGGCTGCCTGGAGGAGGGGGTGTGGGGCAATGCTGGGGAGGCTGCCTGGAGGAGGGGGTGCGGGGCAGGGCTGGAGAGGCTGCCAGGAGGAGGGGATGCAGGGCTGGGGAGGCTGTCTGGAAGAGGGGGTGCAGAGCAGGGCTGGGGAGGCTTCCTGGAGGAGGGGGCACAGGGTAGGGCAGGGCTGAGCTGGGGGTCTGCTTGGAGGAGGGGGTGCAGGGCTGAACTAGGCTATGTGAGTCACATTTGCCACAGGACGGGAGGGCACCCTGGGCCAGCATGGACAGAGGCGGGCGGAACACAGTAGTCCTGAGCGGGAACAGCGTGGGCCCTGGCCAGCGGCCAGAGAGAGGATGACCAGCCAGGGAGGCCGAAGACGGCCGCTTTTGGGGCCAGGCCTGTGGGGAGGCGAGAGCCTTGGACTTTGAGCCCAGCCCACGCTGTTTGTCCCGGGTCCCTTATCTCTCGGGTTAGTTACTTTTCTCTCCCCCTCCCTCTATCCGAAAGTTGGATTTGCAAGAGTGGCCAGGCAAGACCTGGACTTGAGACTATCTGGGAGGGGAAGGACTGGTCCCCAGTGGGCCACACATGGGCCCCCCGCTCAATCCTGATTGGCACTGGACACTGGACGTGCCCATTTTCAGGGTGGGAACACTGAGGCCCGACCCCTGGACGGGGCCTGTGTGGGGCCAGGGAGTCCTTTCTTAGCAGCCCTTAGCGTCTGACGCCAGGCAGGCCAGGGCCACCCCGGGGACAGCTGTCTCCCTGAGCTCAGCTTTCCGAGTGCTATTCTTAGCCGGGCGAGTCGGGGCTGCTCTCCCAGGCAGGCAGAAGGGCAGCCTCTCCCTGGCACGACCCCTTCCTCCCGACCTCAGACAGGGAGCTGGGGACCCGGTTCCACCCAGTTTCACCCAGGTCTCACGTTTGAGGTCCCCATCTGGAGAGCGGGGGGCCTCACTCCCCCTGGAGAGGAAGTTTCTGGTACTTAGGCGGTGCCTAACGTGTGCGGGCCCCACGCCTGCCGCACTCCCCGTGAACGCCTCCGTGTGCCCCCACCTGCAGCCCCACTTCCCAGGCGAGGAGACAG | pathogenic | 293,352 |
Considering the variant on chromosome 19, location 1399558, involving gene GAMT (guanidinoacetate N-methyltransferase), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Cerebral_creatine_deficiency_syndrome', 'Deficiency_of_guanidinoacetate_methyltransferase'] | ATGGCACCAGGTCACCTCTGAGGGCCATGGGGGTCACGTGCACCCTGGCGCCCACCCCTCATTGAAGAGTGTTTACAGATGGCAAGGCCCGGGTGGGCGGCTGCAGCTCCCGTGGGCACGTGGCAGGGCAGCCCTGGAAGCCCAGGTGTGAACGGGAATCTCCAGCTCCCCAGTGCGGGCAGCAGCTTCCCGGCTGTCCTGGAACCCCAGCCCCACACTCGAGCCACCCCCGGGCACCTACTCCACAGTTCTCCAGACCTTGCCAGTGTGGCGGGTGGAGCCAAAGAATCACACCAGAAAAAGAACACAGGCCACTAGTTCCCATTTTGGAAGAAAAGCTGCCCCAGGGGCCACAGGCACCCAGCCGGCTCTCACAACAGCAGCCCAGGGCAACCACATAGAGCCCTTCTCAGATAGGCCGCCTCCACCAGGCAGAGGGAACAGCGAGACAAGCACTGCTGAACCAGCAAAGACAGCCAGGTGGAGGCAGCTGGAGGGAGGGGAACACGCAGGGCTTAGGCTGAACCACAGGGCACTGGGGAGCCATGGGAGGTTGTTGAGCTGGTGAGGGACTTTGATTTCCATTTTTTTTGTTTTTGTTTTGTTGAGATGGAGTCTCGGTCTGTTGCCCAGGCTGGAGTACAACGGTGCAATCTCGGCTCACAGCAACCTCCGCCTCCCATGTTCAAGTGATTCTCATGCCTCAGCCTCCCGAGTAGCTGGAATTACAGGCGCCCGCCACCACGCCTGGCTAACTTTTGTATTTTTAGTAGAGATGGGATTCTGCCATGTTGGCCAGGCTAGGCTCAAACTCCTGGGCTCAAGTGATCCACCCGCCTTGGCCTTCCGAAGTGCCGGGATCACAGGTGTGAGCCACCACGCCCAGCCTGATTTCCATTTTTTTTTTAAATTTTCTTTCTTTCTTTCTTTCTTTCTTTTTTCTTGAGACAGGGTCTGGCTCTGTTACCCAGGCTGGAGTGCAGTGGTTCGATCTGGGCTCACTGCAACCTCTGCCCCTGGGGCCCAAGCAATCCTCCTACCTCAGCCTCCCAAGTAGCTGGGAGTACAGGCACACGCCACCACGCCCAGCTAGTTTTTTGTATTTTTTTTTTTTAGGAAAGATGAGGTCTTGCTCTGTAGCCCAGGCTGGTCTTGAACTCCTAGGCTCAAGCAATCTGCCCACCTCGGCCTTCCACAGTGCTGGGATTATAGACCTGAGCCACTGCTCCTGGCAGCCACTGCGCCAGGCAAAGGACTTTGATTTCTAAATGAACCAGCACAGTCCAGCCCACCCAGGGGGTCAGGAAGGGACCCTCCCCAGGTAGCAAGGTGGCTCCAGCAGCCCCTTCCCACCCCCATCCAAGGTCACTTCCTGGAGACCCATGGGGAACTTCAGGTGGGCGCACCTCAAACATGATGGTGATGTCTGAGTACTTGGACTTCATCAGCTCCCCCCAGGAGGTGAGGTTGCAGTAGGTGAGGACGCCCCCCGGCTTCAGCAGGCGAAAGGCGTGGTTCTGTGGAAGGGGAGTGGCCAGTGGTCAGGACGGAGGTGGGGGTGTGGGCAGAGGGGCTTCCCCGAGGGCCTCCCGCATCCCAGCAAGTCAGAGAGAACCACCTTGATGAAGTTGAACTGGTGTGTGTGCCAGGTCTCCTCCGAGAGTGGGTACGTGTCGTACAGGATCCCTGCACGGAGAACAGAAGCCCACGCGGTCAGGGCCGGGCTCAGCGCCTCACCCAGCCTCACCCGGCTCATCCCCCAGCGGGTGGAGGTGCAGTGAGACGGGGCCGTGGGTAGAGGTGGGGCTCCCACACAGGCTTGAGAACCCCGAGATCGCCTCCAGGGCCCCTCCGTGAGCATGCCCATCCCCGGTGCTCCGCCATCCCACAGCCAGGCCCACACCCACTTGGGCTCTGTCCCCCCAGTGCACATCAGAGGGACCCCCACAAGCAAAGGAGGGGCTGCATTGGAGCTGGGGAGGCCCACCCTGTGATACGTCCCCTCACCCCTCACCATCAAAGTGACCGTCAGGCAGGGTGGGTGCCACATCCTCCCACAGGCCTTTCAAGGGGATGACCTTGCAGAGGGGAAAAGAAAAAGAGAGGACAGGGTAGAGAGGTCCCCAGGATCTCCCCACCTGCAGAAAGGGAGCGGCCAGGGGGACTCCCGAGAGAGAAGACCACCTCCTCCACCTCTGACAGCCCCAGGCCCCCAACCCCCAGGAAGCAGTGCCCTCACCCCAAGGAGTGGGGGTCCTGGAGGGCCTGCGGGCAGAGGGGCACCTTGTGTGTCTGCCGTGGGGCCCAGTCCCGGAGCCGCTGGAAGACGCCGTCATTGCACTCGATGATCCAATGCTCATCAATGGGCGCCTCCTGCACCTTTGACGCTGCGATGGCCATGCCAAAGCCCACCTCCAGGACCCGGCCCCCTGGGCAGACACAGGGCGCCTGGCATCACTAGGTGGGGCGGGCTTAGGAGGCTGCCTGGAGGAGGGGCACAGGGCAGGGCAGGGCTGGGGAGACTGCCTGGAGGAGGGGGCGCAGGGCTGGGCTGGGGGTCTGCCTGGAGGGGGGCGTGCAGAGCAGGGCTGGAGAGGCTGCCTGGAGGAGGGGGTGTGGGGCAATGCTGGGGAGGCTGCCTGGAGGAGGGGGTGCGGGGCAGGGCTGGAGAGGCTGCCAGGAGGAGGGGATGCAGGGCTGGGGAGGCTGTCTGGAAGAGGGGGTGCAGAGCAGGGCTGGGGAGGCTTCCTGGAGGAGGGGGCACAGGGTAGGGCAGGGCTGAGCTGGGGGTCTGCTTGGAGGAGGGGGTGCAGGGCTGAACTAGGCTATGTGAGTCACATTTGCCACAGGACGGGAGGGCACCCTGGGCCAGCATGGACAGAGGCGGGCGGAACACAGTAGTCCTGAGCGGGAACAGCGTGGGCCCTGGCCAGCGGCCAGAGAGAGGATGACCAGCCAGGGAGGCCGAAGACGGCCGCTTTTGGGGCCAGGCCTGTGGGGAGGCGAGAGCCTTGGACTTTGAGCCCAGCCCACGCTGTTTGTCCCGGGTCCCTTATCTCTCGGGTTAGTTACTTTTCTCTCCCCCTCCCTCTATCCGAAAGTTGGATTTGCAAGAGTGGCCAGGCAAGACCTGGACTTGAGACTATCTGGGAGGGGAAGGACTGGTCCCCAGTGGGCCACACATGGGCCCCCCGCTCAATCCTGATTGGCACTGGACACTGGACGTGCCCATTTTCAGGGTGGGAACACTGAGGCCCGACCCCTGGACGGGGCCTGTGTGGGGCCAGGGAGTCCTTTCTTAGCAGCCCTTAGCGTCTGACGCCAGGCAGGCCAGGGCCACCCCGGGGACAGCTGTCTCCCTGAGCTCAGCTTTCCGAGTGCTATTCTTAGCCGGGCGAGTCGGGGCTGCTCTCCCAGGCAGGCAGAAGGGCAGCCTCTCCCTGGCACGACCCCTTCCTCCCGACCTCAGACAGGGAGCTGGGGACCCGGTTCCACCCAGTTTCACCCAGGTCTCACGTTTGAGGTCCCCATCTGGAGAGCGGGGGGCCTCACTCCCCCTGGAGAGGAAGTTTCTGGTACTTAGGCGGTGCCTAACGTGTGCGGGCCCCACGCCTGCCGCACTCCCCGTGAACGCCTCCGTGTGCCCCCACCTGCAGCCCCACTTCCCAGGCGAGGAGACAGAGGCGCCCCGGCGGGAGGGTGGGCTGCAGAGTCCCCGGGTCGGGGCAGCCCCGGCCTCAGTTTCCCCTGCGCCCCCGGGGGCGGTGCAGGCCGGGCGGGGGCTACCTTTGGAGGAGGCGGCGGCGGCCAGCGCGTGCATATAGGGGGTCTCCCAGCGCTCCATCACCGGCTTGCCCAGGATGCGCAGGTGCGTGTCCGCTGCGTCGTAGGCCGCGGGCGCCGCCCCCCACGCGGGGCTGCAGTTCTCGCCGGGCGCGAAGATGGGGGTCGCGCTGGGGGCGCTCATGCTGCAGGCTGGACGGCGACCCGACCTCGATCGCGCGCCGCCCGGGCCCGCTCCCTGCAGGGGCTTGTGGGCCGGGGGCGGGTCCAACAGGCCCGGGGGGCGGACCCGCGAGAGGACGCGCGCGCGCGG | ATGGCACCAGGTCACCTCTGAGGGCCATGGGGGTCACGTGCACCCTGGCGCCCACCCCTCATTGAAGAGTGTTTACAGATGGCAAGGCCCGGGTGGGCGGCTGCAGCTCCCGTGGGCACGTGGCAGGGCAGCCCTGGAAGCCCAGGTGTGAACGGGAATCTCCAGCTCCCCAGTGCGGGCAGCAGCTTCCCGGCTGTCCTGGAACCCCAGCCCCACACTCGAGCCACCCCCGGGCACCTACTCCACAGTTCTCCAGACCTTGCCAGTGTGGCGGGTGGAGCCAAAGAATCACACCAGAAAAAGAACACAGGCCACTAGTTCCCATTTTGGAAGAAAAGCTGCCCCAGGGGCCACAGGCACCCAGCCGGCTCTCACAACAGCAGCCCAGGGCAACCACATAGAGCCCTTCTCAGATAGGCCGCCTCCACCAGGCAGAGGGAACAGCGAGACAAGCACTGCTGAACCAGCAAAGACAGCCAGGTGGAGGCAGCTGGAGGGAGGGGAACACGCAGGGCTTAGGCTGAACCACAGGGCACTGGGGAGCCATGGGAGGTTGTTGAGCTGGTGAGGGACTTTGATTTCCATTTTTTTTGTTTTTGTTTTGTTGAGATGGAGTCTCGGTCTGTTGCCCAGGCTGGAGTACAACGGTGCAATCTCGGCTCACAGCAACCTCCGCCTCCCATGTTCAAGTGATTCTCATGCCTCAGCCTCCCGAGTAGCTGGAATTACAGGCGCCCGCCACCACGCCTGGCTAACTTTTGTATTTTTAGTAGAGATGGGATTCTGCCATGTTGGCCAGGCTAGGCTCAAACTCCTGGGCTCAAGTGATCCACCCGCCTTGGCCTTCCGAAGTGCCGGGATCACAGGTGTGAGCCACCACGCCCAGCCTGATTTCCATTTTTTTTTTAAATTTTCTTTCTTTCTTTCTTTCTTTCTTTTTTCTTGAGACAGGGTCTGGCTCTGTTACCCAGGCTGGAGTGCAGTGGTTCGATCTGGGCTCACTGCAACCTCTGCCCCTGGGGCCCAAGCAATCCTCCTACCTCAGCCTCCCAAGTAGCTGGGAGTACAGGCACACGCCACCACGCCCAGCTAGTTTTTTGTATTTTTTTTTTTTAGGAAAGATGAGGTCTTGCTCTGTAGCCCAGGCTGGTCTTGAACTCCTAGGCTCAAGCAATCTGCCCACCTCGGCCTTCCACAGTGCTGGGATTATAGACCTGAGCCACTGCTCCTGGCAGCCACTGCGCCAGGCAAAGGACTTTGATTTCTAAATGAACCAGCACAGTCCAGCCCACCCAGGGGGTCAGGAAGGGACCCTCCCCAGGTAGCAAGGTGGCTCCAGCAGCCCCTTCCCACCCCCATCCAAGGTCACTTCCTGGAGACCCATGGGGAACTTCAGGTGGGCGCACCTCAAACATGATGGTGATGTCTGAGTACTTGGACTTCATCAGCTCCCCCCAGGAGGTGAGGTTGCAGTAGGTGAGGACGCCCCCCGGCTTCAGCAGGCGAAAGGCGTGGTTCTGTGGAAGGGGAGTGGCCAGTGGTCAGGACGGAGGTGGGGGTGTGGGCAGAGGGGCTTCCCCGAGGGCCTCCCGCATCCCAGCAAGTCAGAGAGAACCACCTTGATGAAGTTGAACTGGTGTGTGTGCCAGGTCTCCTCCGAGAGTGGGTACGTGTCGTACAGGATCCCTGCACGGAGAACAGAAGCCCACGCGGTCAGGGCCGGGCTCAGCGCCTCACCCAGCCTCACCCGGCTCATCCCCCAGCGGGTGGAGGTGCAGTGAGACGGGGCCGTGGGTAGAGGTGGGGCTCCCACACAGGCTTGAGAACCCCGAGATCGCCTCCAGGGCCCCTCCGTGAGCATGCCCATCCCCGGTGCTCCGCCATCCCACAGCCAGGCCCACACCCACTTGGGCTCTGTCCCCCCAGTGCACATCAGAGGGACCCCCACAAGCAAAGGAGGGGCTGCATTGGAGCTGGGGAGGCCCACCCTGTGATACGTCCCCTCACCCCTCACCATCAAAGTGACCGTCAGGCAGGGTGGGTGCCACATTCCTCCCACAGGCCTTTCAAGGGGATGACCTTGCAGAGGGGAAAAGAAAAAGAGAGGACAGGGTAGAGAGGTCCCCAGGATCTCCCCACCTGCAGAAAGGGAGCGGCCAGGGGGACTCCCGAGAGAGAAGACCACCTCCTCCACCTCTGACAGCCCCAGGCCCCCAACCCCCAGGAAGCAGTGCCCTCACCCCAAGGAGTGGGGGTCCTGGAGGGCCTGCGGGCAGAGGGGCACCTTGTGTGTCTGCCGTGGGGCCCAGTCCCGGAGCCGCTGGAAGACGCCGTCATTGCACTCGATGATCCAATGCTCATCAATGGGCGCCTCCTGCACCTTTGACGCTGCGATGGCCATGCCAAAGCCCACCTCCAGGACCCGGCCCCCTGGGCAGACACAGGGCGCCTGGCATCACTAGGTGGGGCGGGCTTAGGAGGCTGCCTGGAGGAGGGGCACAGGGCAGGGCAGGGCTGGGGAGACTGCCTGGAGGAGGGGGCGCAGGGCTGGGCTGGGGGTCTGCCTGGAGGGGGGCGTGCAGAGCAGGGCTGGAGAGGCTGCCTGGAGGAGGGGGTGTGGGGCAATGCTGGGGAGGCTGCCTGGAGGAGGGGGTGCGGGGCAGGGCTGGAGAGGCTGCCAGGAGGAGGGGATGCAGGGCTGGGGAGGCTGTCTGGAAGAGGGGGTGCAGAGCAGGGCTGGGGAGGCTTCCTGGAGGAGGGGGCACAGGGTAGGGCAGGGCTGAGCTGGGGGTCTGCTTGGAGGAGGGGGTGCAGGGCTGAACTAGGCTATGTGAGTCACATTTGCCACAGGACGGGAGGGCACCCTGGGCCAGCATGGACAGAGGCGGGCGGAACACAGTAGTCCTGAGCGGGAACAGCGTGGGCCCTGGCCAGCGGCCAGAGAGAGGATGACCAGCCAGGGAGGCCGAAGACGGCCGCTTTTGGGGCCAGGCCTGTGGGGAGGCGAGAGCCTTGGACTTTGAGCCCAGCCCACGCTGTTTGTCCCGGGTCCCTTATCTCTCGGGTTAGTTACTTTTCTCTCCCCCTCCCTCTATCCGAAAGTTGGATTTGCAAGAGTGGCCAGGCAAGACCTGGACTTGAGACTATCTGGGAGGGGAAGGACTGGTCCCCAGTGGGCCACACATGGGCCCCCCGCTCAATCCTGATTGGCACTGGACACTGGACGTGCCCATTTTCAGGGTGGGAACACTGAGGCCCGACCCCTGGACGGGGCCTGTGTGGGGCCAGGGAGTCCTTTCTTAGCAGCCCTTAGCGTCTGACGCCAGGCAGGCCAGGGCCACCCCGGGGACAGCTGTCTCCCTGAGCTCAGCTTTCCGAGTGCTATTCTTAGCCGGGCGAGTCGGGGCTGCTCTCCCAGGCAGGCAGAAGGGCAGCCTCTCCCTGGCACGACCCCTTCCTCCCGACCTCAGACAGGGAGCTGGGGACCCGGTTCCACCCAGTTTCACCCAGGTCTCACGTTTGAGGTCCCCATCTGGAGAGCGGGGGGCCTCACTCCCCCTGGAGAGGAAGTTTCTGGTACTTAGGCGGTGCCTAACGTGTGCGGGCCCCACGCCTGCCGCACTCCCCGTGAACGCCTCCGTGTGCCCCCACCTGCAGCCCCACTTCCCAGGCGAGGAGACAGAGGCGCCCCGGCGGGAGGGTGGGCTGCAGAGTCCCCGGGTCGGGGCAGCCCCGGCCTCAGTTTCCCCTGCGCCCCCGGGGGCGGTGCAGGCCGGGCGGGGGCTACCTTTGGAGGAGGCGGCGGCGGCCAGCGCGTGCATATAGGGGGTCTCCCAGCGCTCCATCACCGGCTTGCCCAGGATGCGCAGGTGCGTGTCCGCTGCGTCGTAGGCCGCGGGCGCCGCCCCCCACGCGGGGCTGCAGTTCTCGCCGGGCGCGAAGATGGGGGTCGCGCTGGGGGCGCTCATGCTGCAGGCTGGACGGCGACCCGACCTCGATCGCGCGCCGCCCGGGCCCGCTCCCTGCAGGGGCTTGTGGGCCGGGGGCGGGTCCAACAGGCCCGGGGGGCGGACCCGCGAGAGGACGCGCGCGCGCG | pathogenic | 293,375 |
Evaluate this variant at chromosome 19, position 1399576, gene GAMT (guanidinoacetate N-methyltransferase): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Cerebral_creatine_deficiency_syndrome', 'Deficiency_of_guanidinoacetate_methyltransferase'] | TGAGGGCCATGGGGGTCACGTGCACCCTGGCGCCCACCCCTCATTGAAGAGTGTTTACAGATGGCAAGGCCCGGGTGGGCGGCTGCAGCTCCCGTGGGCACGTGGCAGGGCAGCCCTGGAAGCCCAGGTGTGAACGGGAATCTCCAGCTCCCCAGTGCGGGCAGCAGCTTCCCGGCTGTCCTGGAACCCCAGCCCCACACTCGAGCCACCCCCGGGCACCTACTCCACAGTTCTCCAGACCTTGCCAGTGTGGCGGGTGGAGCCAAAGAATCACACCAGAAAAAGAACACAGGCCACTAGTTCCCATTTTGGAAGAAAAGCTGCCCCAGGGGCCACAGGCACCCAGCCGGCTCTCACAACAGCAGCCCAGGGCAACCACATAGAGCCCTTCTCAGATAGGCCGCCTCCACCAGGCAGAGGGAACAGCGAGACAAGCACTGCTGAACCAGCAAAGACAGCCAGGTGGAGGCAGCTGGAGGGAGGGGAACACGCAGGGCTTAGGCTGAACCACAGGGCACTGGGGAGCCATGGGAGGTTGTTGAGCTGGTGAGGGACTTTGATTTCCATTTTTTTTGTTTTTGTTTTGTTGAGATGGAGTCTCGGTCTGTTGCCCAGGCTGGAGTACAACGGTGCAATCTCGGCTCACAGCAACCTCCGCCTCCCATGTTCAAGTGATTCTCATGCCTCAGCCTCCCGAGTAGCTGGAATTACAGGCGCCCGCCACCACGCCTGGCTAACTTTTGTATTTTTAGTAGAGATGGGATTCTGCCATGTTGGCCAGGCTAGGCTCAAACTCCTGGGCTCAAGTGATCCACCCGCCTTGGCCTTCCGAAGTGCCGGGATCACAGGTGTGAGCCACCACGCCCAGCCTGATTTCCATTTTTTTTTTAAATTTTCTTTCTTTCTTTCTTTCTTTCTTTTTTCTTGAGACAGGGTCTGGCTCTGTTACCCAGGCTGGAGTGCAGTGGTTCGATCTGGGCTCACTGCAACCTCTGCCCCTGGGGCCCAAGCAATCCTCCTACCTCAGCCTCCCAAGTAGCTGGGAGTACAGGCACACGCCACCACGCCCAGCTAGTTTTTTGTATTTTTTTTTTTTAGGAAAGATGAGGTCTTGCTCTGTAGCCCAGGCTGGTCTTGAACTCCTAGGCTCAAGCAATCTGCCCACCTCGGCCTTCCACAGTGCTGGGATTATAGACCTGAGCCACTGCTCCTGGCAGCCACTGCGCCAGGCAAAGGACTTTGATTTCTAAATGAACCAGCACAGTCCAGCCCACCCAGGGGGTCAGGAAGGGACCCTCCCCAGGTAGCAAGGTGGCTCCAGCAGCCCCTTCCCACCCCCATCCAAGGTCACTTCCTGGAGACCCATGGGGAACTTCAGGTGGGCGCACCTCAAACATGATGGTGATGTCTGAGTACTTGGACTTCATCAGCTCCCCCCAGGAGGTGAGGTTGCAGTAGGTGAGGACGCCCCCCGGCTTCAGCAGGCGAAAGGCGTGGTTCTGTGGAAGGGGAGTGGCCAGTGGTCAGGACGGAGGTGGGGGTGTGGGCAGAGGGGCTTCCCCGAGGGCCTCCCGCATCCCAGCAAGTCAGAGAGAACCACCTTGATGAAGTTGAACTGGTGTGTGTGCCAGGTCTCCTCCGAGAGTGGGTACGTGTCGTACAGGATCCCTGCACGGAGAACAGAAGCCCACGCGGTCAGGGCCGGGCTCAGCGCCTCACCCAGCCTCACCCGGCTCATCCCCCAGCGGGTGGAGGTGCAGTGAGACGGGGCCGTGGGTAGAGGTGGGGCTCCCACACAGGCTTGAGAACCCCGAGATCGCCTCCAGGGCCCCTCCGTGAGCATGCCCATCCCCGGTGCTCCGCCATCCCACAGCCAGGCCCACACCCACTTGGGCTCTGTCCCCCCAGTGCACATCAGAGGGACCCCCACAAGCAAAGGAGGGGCTGCATTGGAGCTGGGGAGGCCCACCCTGTGATACGTCCCCTCACCCCTCACCATCAAAGTGACCGTCAGGCAGGGTGGGTGCCACATCCTCCCACAGGCCTTTCAAGGGGATGACCTTGCAGAGGGGAAAAGAAAAAGAGAGGACAGGGTAGAGAGGTCCCCAGGATCTCCCCACCTGCAGAAAGGGAGCGGCCAGGGGGACTCCCGAGAGAGAAGACCACCTCCTCCACCTCTGACAGCCCCAGGCCCCCAACCCCCAGGAAGCAGTGCCCTCACCCCAAGGAGTGGGGGTCCTGGAGGGCCTGCGGGCAGAGGGGCACCTTGTGTGTCTGCCGTGGGGCCCAGTCCCGGAGCCGCTGGAAGACGCCGTCATTGCACTCGATGATCCAATGCTCATCAATGGGCGCCTCCTGCACCTTTGACGCTGCGATGGCCATGCCAAAGCCCACCTCCAGGACCCGGCCCCCTGGGCAGACACAGGGCGCCTGGCATCACTAGGTGGGGCGGGCTTAGGAGGCTGCCTGGAGGAGGGGCACAGGGCAGGGCAGGGCTGGGGAGACTGCCTGGAGGAGGGGGCGCAGGGCTGGGCTGGGGGTCTGCCTGGAGGGGGGCGTGCAGAGCAGGGCTGGAGAGGCTGCCTGGAGGAGGGGGTGTGGGGCAATGCTGGGGAGGCTGCCTGGAGGAGGGGGTGCGGGGCAGGGCTGGAGAGGCTGCCAGGAGGAGGGGATGCAGGGCTGGGGAGGCTGTCTGGAAGAGGGGGTGCAGAGCAGGGCTGGGGAGGCTTCCTGGAGGAGGGGGCACAGGGTAGGGCAGGGCTGAGCTGGGGGTCTGCTTGGAGGAGGGGGTGCAGGGCTGAACTAGGCTATGTGAGTCACATTTGCCACAGGACGGGAGGGCACCCTGGGCCAGCATGGACAGAGGCGGGCGGAACACAGTAGTCCTGAGCGGGAACAGCGTGGGCCCTGGCCAGCGGCCAGAGAGAGGATGACCAGCCAGGGAGGCCGAAGACGGCCGCTTTTGGGGCCAGGCCTGTGGGGAGGCGAGAGCCTTGGACTTTGAGCCCAGCCCACGCTGTTTGTCCCGGGTCCCTTATCTCTCGGGTTAGTTACTTTTCTCTCCCCCTCCCTCTATCCGAAAGTTGGATTTGCAAGAGTGGCCAGGCAAGACCTGGACTTGAGACTATCTGGGAGGGGAAGGACTGGTCCCCAGTGGGCCACACATGGGCCCCCCGCTCAATCCTGATTGGCACTGGACACTGGACGTGCCCATTTTCAGGGTGGGAACACTGAGGCCCGACCCCTGGACGGGGCCTGTGTGGGGCCAGGGAGTCCTTTCTTAGCAGCCCTTAGCGTCTGACGCCAGGCAGGCCAGGGCCACCCCGGGGACAGCTGTCTCCCTGAGCTCAGCTTTCCGAGTGCTATTCTTAGCCGGGCGAGTCGGGGCTGCTCTCCCAGGCAGGCAGAAGGGCAGCCTCTCCCTGGCACGACCCCTTCCTCCCGACCTCAGACAGGGAGCTGGGGACCCGGTTCCACCCAGTTTCACCCAGGTCTCACGTTTGAGGTCCCCATCTGGAGAGCGGGGGGCCTCACTCCCCCTGGAGAGGAAGTTTCTGGTACTTAGGCGGTGCCTAACGTGTGCGGGCCCCACGCCTGCCGCACTCCCCGTGAACGCCTCCGTGTGCCCCCACCTGCAGCCCCACTTCCCAGGCGAGGAGACAGAGGCGCCCCGGCGGGAGGGTGGGCTGCAGAGTCCCCGGGTCGGGGCAGCCCCGGCCTCAGTTTCCCCTGCGCCCCCGGGGGCGGTGCAGGCCGGGCGGGGGCTACCTTTGGAGGAGGCGGCGGCGGCCAGCGCGTGCATATAGGGGGTCTCCCAGCGCTCCATCACCGGCTTGCCCAGGATGCGCAGGTGCGTGTCCGCTGCGTCGTAGGCCGCGGGCGCCGCCCCCCACGCGGGGCTGCAGTTCTCGCCGGGCGCGAAGATGGGGGTCGCGCTGGGGGCGCTCATGCTGCAGGCTGGACGGCGACCCGACCTCGATCGCGCGCCGCCCGGGCCCGCTCCCTGCAGGGGCTTGTGGGCCGGGGGCGGGTCCAACAGGCCCGGGGGGCGGACCCGCGAGAGGACGCGCGCGCGCGGCTCCGGGAGCGGCCTCTA | TGAGGGCCATGGGGGTCACGTGCACCCTGGCGCCCACCCCTCATTGAAGAGTGTTTACAGATGGCAAGGCCCGGGTGGGCGGCTGCAGCTCCCGTGGGCACGTGGCAGGGCAGCCCTGGAAGCCCAGGTGTGAACGGGAATCTCCAGCTCCCCAGTGCGGGCAGCAGCTTCCCGGCTGTCCTGGAACCCCAGCCCCACACTCGAGCCACCCCCGGGCACCTACTCCACAGTTCTCCAGACCTTGCCAGTGTGGCGGGTGGAGCCAAAGAATCACACCAGAAAAAGAACACAGGCCACTAGTTCCCATTTTGGAAGAAAAGCTGCCCCAGGGGCCACAGGCACCCAGCCGGCTCTCACAACAGCAGCCCAGGGCAACCACATAGAGCCCTTCTCAGATAGGCCGCCTCCACCAGGCAGAGGGAACAGCGAGACAAGCACTGCTGAACCAGCAAAGACAGCCAGGTGGAGGCAGCTGGAGGGAGGGGAACACGCAGGGCTTAGGCTGAACCACAGGGCACTGGGGAGCCATGGGAGGTTGTTGAGCTGGTGAGGGACTTTGATTTCCATTTTTTTTGTTTTTGTTTTGTTGAGATGGAGTCTCGGTCTGTTGCCCAGGCTGGAGTACAACGGTGCAATCTCGGCTCACAGCAACCTCCGCCTCCCATGTTCAAGTGATTCTCATGCCTCAGCCTCCCGAGTAGCTGGAATTACAGGCGCCCGCCACCACGCCTGGCTAACTTTTGTATTTTTAGTAGAGATGGGATTCTGCCATGTTGGCCAGGCTAGGCTCAAACTCCTGGGCTCAAGTGATCCACCCGCCTTGGCCTTCCGAAGTGCCGGGATCACAGGTGTGAGCCACCACGCCCAGCCTGATTTCCATTTTTTTTTTAAATTTTCTTTCTTTCTTTCTTTCTTTCTTTTTTCTTGAGACAGGGTCTGGCTCTGTTACCCAGGCTGGAGTGCAGTGGTTCGATCTGGGCTCACTGCAACCTCTGCCCCTGGGGCCCAAGCAATCCTCCTACCTCAGCCTCCCAAGTAGCTGGGAGTACAGGCACACGCCACCACGCCCAGCTAGTTTTTTGTATTTTTTTTTTTTAGGAAAGATGAGGTCTTGCTCTGTAGCCCAGGCTGGTCTTGAACTCCTAGGCTCAAGCAATCTGCCCACCTCGGCCTTCCACAGTGCTGGGATTATAGACCTGAGCCACTGCTCCTGGCAGCCACTGCGCCAGGCAAAGGACTTTGATTTCTAAATGAACCAGCACAGTCCAGCCCACCCAGGGGGTCAGGAAGGGACCCTCCCCAGGTAGCAAGGTGGCTCCAGCAGCCCCTTCCCACCCCCATCCAAGGTCACTTCCTGGAGACCCATGGGGAACTTCAGGTGGGCGCACCTCAAACATGATGGTGATGTCTGAGTACTTGGACTTCATCAGCTCCCCCCAGGAGGTGAGGTTGCAGTAGGTGAGGACGCCCCCCGGCTTCAGCAGGCGAAAGGCGTGGTTCTGTGGAAGGGGAGTGGCCAGTGGTCAGGACGGAGGTGGGGGTGTGGGCAGAGGGGCTTCCCCGAGGGCCTCCCGCATCCCAGCAAGTCAGAGAGAACCACCTTGATGAAGTTGAACTGGTGTGTGTGCCAGGTCTCCTCCGAGAGTGGGTACGTGTCGTACAGGATCCCTGCACGGAGAACAGAAGCCCACGCGGTCAGGGCCGGGCTCAGCGCCTCACCCAGCCTCACCCGGCTCATCCCCCAGCGGGTGGAGGTGCAGTGAGACGGGGCCGTGGGTAGAGGTGGGGCTCCCACACAGGCTTGAGAACCCCGAGATCGCCTCCAGGGCCCCTCCGTGAGCATGCCCATCCCCGGTGCTCCGCCATCCCACAGCCAGGCCCACACCCACTTGGGCTCTGTCCCCCCAGTGCACATCAGAGGGACCCCCACAAGCAAAGGAGGGGCTGCATTGGAGCTGGGGAGGCCCACCCTGTGATACGTCCCCTCACCCCTCACCATCAAAGTGACCGTCAGGCAGGGTGGGTGCCACATCCTCCCACAGGCCTTTCTGACCTTGCAGAGGGGAAAAGAAAAAGAGAGGACAGGGTAGAGAGGTCCCCAGGATCTCCCCACCTGCAGAAAGGGAGCGGCCAGGGGGACTCCCGAGAGAGAAGACCACCTCCTCCACCTCTGACAGCCCCAGGCCCCCAACCCCCAGGAAGCAGTGCCCTCACCCCAAGGAGTGGGGGTCCTGGAGGGCCTGCGGGCAGAGGGGCACCTTGTGTGTCTGCCGTGGGGCCCAGTCCCGGAGCCGCTGGAAGACGCCGTCATTGCACTCGATGATCCAATGCTCATCAATGGGCGCCTCCTGCACCTTTGACGCTGCGATGGCCATGCCAAAGCCCACCTCCAGGACCCGGCCCCCTGGGCAGACACAGGGCGCCTGGCATCACTAGGTGGGGCGGGCTTAGGAGGCTGCCTGGAGGAGGGGCACAGGGCAGGGCAGGGCTGGGGAGACTGCCTGGAGGAGGGGGCGCAGGGCTGGGCTGGGGGTCTGCCTGGAGGGGGGCGTGCAGAGCAGGGCTGGAGAGGCTGCCTGGAGGAGGGGGTGTGGGGCAATGCTGGGGAGGCTGCCTGGAGGAGGGGGTGCGGGGCAGGGCTGGAGAGGCTGCCAGGAGGAGGGGATGCAGGGCTGGGGAGGCTGTCTGGAAGAGGGGGTGCAGAGCAGGGCTGGGGAGGCTTCCTGGAGGAGGGGGCACAGGGTAGGGCAGGGCTGAGCTGGGGGTCTGCTTGGAGGAGGGGGTGCAGGGCTGAACTAGGCTATGTGAGTCACATTTGCCACAGGACGGGAGGGCACCCTGGGCCAGCATGGACAGAGGCGGGCGGAACACAGTAGTCCTGAGCGGGAACAGCGTGGGCCCTGGCCAGCGGCCAGAGAGAGGATGACCAGCCAGGGAGGCCGAAGACGGCCGCTTTTGGGGCCAGGCCTGTGGGGAGGCGAGAGCCTTGGACTTTGAGCCCAGCCCACGCTGTTTGTCCCGGGTCCCTTATCTCTCGGGTTAGTTACTTTTCTCTCCCCCTCCCTCTATCCGAAAGTTGGATTTGCAAGAGTGGCCAGGCAAGACCTGGACTTGAGACTATCTGGGAGGGGAAGGACTGGTCCCCAGTGGGCCACACATGGGCCCCCCGCTCAATCCTGATTGGCACTGGACACTGGACGTGCCCATTTTCAGGGTGGGAACACTGAGGCCCGACCCCTGGACGGGGCCTGTGTGGGGCCAGGGAGTCCTTTCTTAGCAGCCCTTAGCGTCTGACGCCAGGCAGGCCAGGGCCACCCCGGGGACAGCTGTCTCCCTGAGCTCAGCTTTCCGAGTGCTATTCTTAGCCGGGCGAGTCGGGGCTGCTCTCCCAGGCAGGCAGAAGGGCAGCCTCTCCCTGGCACGACCCCTTCCTCCCGACCTCAGACAGGGAGCTGGGGACCCGGTTCCACCCAGTTTCACCCAGGTCTCACGTTTGAGGTCCCCATCTGGAGAGCGGGGGGCCTCACTCCCCCTGGAGAGGAAGTTTCTGGTACTTAGGCGGTGCCTAACGTGTGCGGGCCCCACGCCTGCCGCACTCCCCGTGAACGCCTCCGTGTGCCCCCACCTGCAGCCCCACTTCCCAGGCGAGGAGACAGAGGCGCCCCGGCGGGAGGGTGGGCTGCAGAGTCCCCGGGTCGGGGCAGCCCCGGCCTCAGTTTCCCCTGCGCCCCCGGGGGCGGTGCAGGCCGGGCGGGGGCTACCTTTGGAGGAGGCGGCGGCGGCCAGCGCGTGCATATAGGGGGTCTCCCAGCGCTCCATCACCGGCTTGCCCAGGATGCGCAGGTGCGTGTCCGCTGCGTCGTAGGCCGCGGGCGCCGCCCCCCACGCGGGGCTGCAGTTCTCGCCGGGCGCGAAGATGGGGGTCGCGCTGGGGGCGCTCATGCTGCAGGCTGGACGGCGACCCGACCTCGATCGCGCGCCGCCCGGGCCCGCTCCCTGCAGGGGCTTGTGGGCCGGGGGCGGGTCCAACAGGCCCGGGGGGCGGACCCGCGAGAGGACGCGCGCGCGCGGCTCCGGGAGCGGCCTCTANNNNNNN | pathogenic | 293,378 |
Variant on chromosome 19, at position 1399794, affecting GAMT (guanidinoacetate N-methyltransferase): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Cerebral_creatine_deficiency_syndrome', 'Deficiency_of_guanidinoacetate_methyltransferase'] | CCTACTCCACAGTTCTCCAGACCTTGCCAGTGTGGCGGGTGGAGCCAAAGAATCACACCAGAAAAAGAACACAGGCCACTAGTTCCCATTTTGGAAGAAAAGCTGCCCCAGGGGCCACAGGCACCCAGCCGGCTCTCACAACAGCAGCCCAGGGCAACCACATAGAGCCCTTCTCAGATAGGCCGCCTCCACCAGGCAGAGGGAACAGCGAGACAAGCACTGCTGAACCAGCAAAGACAGCCAGGTGGAGGCAGCTGGAGGGAGGGGAACACGCAGGGCTTAGGCTGAACCACAGGGCACTGGGGAGCCATGGGAGGTTGTTGAGCTGGTGAGGGACTTTGATTTCCATTTTTTTTGTTTTTGTTTTGTTGAGATGGAGTCTCGGTCTGTTGCCCAGGCTGGAGTACAACGGTGCAATCTCGGCTCACAGCAACCTCCGCCTCCCATGTTCAAGTGATTCTCATGCCTCAGCCTCCCGAGTAGCTGGAATTACAGGCGCCCGCCACCACGCCTGGCTAACTTTTGTATTTTTAGTAGAGATGGGATTCTGCCATGTTGGCCAGGCTAGGCTCAAACTCCTGGGCTCAAGTGATCCACCCGCCTTGGCCTTCCGAAGTGCCGGGATCACAGGTGTGAGCCACCACGCCCAGCCTGATTTCCATTTTTTTTTTAAATTTTCTTTCTTTCTTTCTTTCTTTCTTTTTTCTTGAGACAGGGTCTGGCTCTGTTACCCAGGCTGGAGTGCAGTGGTTCGATCTGGGCTCACTGCAACCTCTGCCCCTGGGGCCCAAGCAATCCTCCTACCTCAGCCTCCCAAGTAGCTGGGAGTACAGGCACACGCCACCACGCCCAGCTAGTTTTTTGTATTTTTTTTTTTTAGGAAAGATGAGGTCTTGCTCTGTAGCCCAGGCTGGTCTTGAACTCCTAGGCTCAAGCAATCTGCCCACCTCGGCCTTCCACAGTGCTGGGATTATAGACCTGAGCCACTGCTCCTGGCAGCCACTGCGCCAGGCAAAGGACTTTGATTTCTAAATGAACCAGCACAGTCCAGCCCACCCAGGGGGTCAGGAAGGGACCCTCCCCAGGTAGCAAGGTGGCTCCAGCAGCCCCTTCCCACCCCCATCCAAGGTCACTTCCTGGAGACCCATGGGGAACTTCAGGTGGGCGCACCTCAAACATGATGGTGATGTCTGAGTACTTGGACTTCATCAGCTCCCCCCAGGAGGTGAGGTTGCAGTAGGTGAGGACGCCCCCCGGCTTCAGCAGGCGAAAGGCGTGGTTCTGTGGAAGGGGAGTGGCCAGTGGTCAGGACGGAGGTGGGGGTGTGGGCAGAGGGGCTTCCCCGAGGGCCTCCCGCATCCCAGCAAGTCAGAGAGAACCACCTTGATGAAGTTGAACTGGTGTGTGTGCCAGGTCTCCTCCGAGAGTGGGTACGTGTCGTACAGGATCCCTGCACGGAGAACAGAAGCCCACGCGGTCAGGGCCGGGCTCAGCGCCTCACCCAGCCTCACCCGGCTCATCCCCCAGCGGGTGGAGGTGCAGTGAGACGGGGCCGTGGGTAGAGGTGGGGCTCCCACACAGGCTTGAGAACCCCGAGATCGCCTCCAGGGCCCCTCCGTGAGCATGCCCATCCCCGGTGCTCCGCCATCCCACAGCCAGGCCCACACCCACTTGGGCTCTGTCCCCCCAGTGCACATCAGAGGGACCCCCACAAGCAAAGGAGGGGCTGCATTGGAGCTGGGGAGGCCCACCCTGTGATACGTCCCCTCACCCCTCACCATCAAAGTGACCGTCAGGCAGGGTGGGTGCCACATCCTCCCACAGGCCTTTCAAGGGGATGACCTTGCAGAGGGGAAAAGAAAAAGAGAGGACAGGGTAGAGAGGTCCCCAGGATCTCCCCACCTGCAGAAAGGGAGCGGCCAGGGGGACTCCCGAGAGAGAAGACCACCTCCTCCACCTCTGACAGCCCCAGGCCCCCAACCCCCAGGAAGCAGTGCCCTCACCCCAAGGAGTGGGGGTCCTGGAGGGCCTGCGGGCAGAGGGGCACCTTGTGTGTCTGCCGTGGGGCCCAGTCCCGGAGCCGCTGGAAGACGCCGTCATTGCACTCGATGATCCAATGCTCATCAATGGGCGCCTCCTGCACCTTTGACGCTGCGATGGCCATGCCAAAGCCCACCTCCAGGACCCGGCCCCCTGGGCAGACACAGGGCGCCTGGCATCACTAGGTGGGGCGGGCTTAGGAGGCTGCCTGGAGGAGGGGCACAGGGCAGGGCAGGGCTGGGGAGACTGCCTGGAGGAGGGGGCGCAGGGCTGGGCTGGGGGTCTGCCTGGAGGGGGGCGTGCAGAGCAGGGCTGGAGAGGCTGCCTGGAGGAGGGGGTGTGGGGCAATGCTGGGGAGGCTGCCTGGAGGAGGGGGTGCGGGGCAGGGCTGGAGAGGCTGCCAGGAGGAGGGGATGCAGGGCTGGGGAGGCTGTCTGGAAGAGGGGGTGCAGAGCAGGGCTGGGGAGGCTTCCTGGAGGAGGGGGCACAGGGTAGGGCAGGGCTGAGCTGGGGGTCTGCTTGGAGGAGGGGGTGCAGGGCTGAACTAGGCTATGTGAGTCACATTTGCCACAGGACGGGAGGGCACCCTGGGCCAGCATGGACAGAGGCGGGCGGAACACAGTAGTCCTGAGCGGGAACAGCGTGGGCCCTGGCCAGCGGCCAGAGAGAGGATGACCAGCCAGGGAGGCCGAAGACGGCCGCTTTTGGGGCCAGGCCTGTGGGGAGGCGAGAGCCTTGGACTTTGAGCCCAGCCCACGCTGTTTGTCCCGGGTCCCTTATCTCTCGGGTTAGTTACTTTTCTCTCCCCCTCCCTCTATCCGAAAGTTGGATTTGCAAGAGTGGCCAGGCAAGACCTGGACTTGAGACTATCTGGGAGGGGAAGGACTGGTCCCCAGTGGGCCACACATGGGCCCCCCGCTCAATCCTGATTGGCACTGGACACTGGACGTGCCCATTTTCAGGGTGGGAACACTGAGGCCCGACCCCTGGACGGGGCCTGTGTGGGGCCAGGGAGTCCTTTCTTAGCAGCCCTTAGCGTCTGACGCCAGGCAGGCCAGGGCCACCCCGGGGACAGCTGTCTCCCTGAGCTCAGCTTTCCGAGTGCTATTCTTAGCCGGGCGAGTCGGGGCTGCTCTCCCAGGCAGGCAGAAGGGCAGCCTCTCCCTGGCACGACCCCTTCCTCCCGACCTCAGACAGGGAGCTGGGGACCCGGTTCCACCCAGTTTCACCCAGGTCTCACGTTTGAGGTCCCCATCTGGAGAGCGGGGGGCCTCACTCCCCCTGGAGAGGAAGTTTCTGGTACTTAGGCGGTGCCTAACGTGTGCGGGCCCCACGCCTGCCGCACTCCCCGTGAACGCCTCCGTGTGCCCCCACCTGCAGCCCCACTTCCCAGGCGAGGAGACAGAGGCGCCCCGGCGGGAGGGTGGGCTGCAGAGTCCCCGGGTCGGGGCAGCCCCGGCCTCAGTTTCCCCTGCGCCCCCGGGGGCGGTGCAGGCCGGGCGGGGGCTACCTTTGGAGGAGGCGGCGGCGGCCAGCGCGTGCATATAGGGGGTCTCCCAGCGCTCCATCACCGGCTTGCCCAGGATGCGCAGGTGCGTGTCCGCTGCGTCGTAGGCCGCGGGCGCCGCCCCCCACGCGGGGCTGCAGTTCTCGCCGGGCGCGAAGATGGGGGTCGCGCTGGGGGCGCTCATGCTGCAGGCTGGACGGCGACCCGACCTCGATCGCGCGCCGCCCGGGCCCGCTCCCTGCAGGGGCTTGTGGGCCGGGGGCGGGTCCAACAGGCCCGGGGGGCGGACCCGCGAGAGGACGCGCGCGCGCGGCTCCGGGAGCGGCCTCTAGCGGCGGCCACGCGAGAGGTGGCGGGAGTGGGGTCGGGGCCCCGGCCGCCCCCTCCCCAAGGAGCCTCGGTGCCCCCTCTGCGGAGCGGGCACCGCAGCCCCGCGCCCGGGGACGCGAACCTGCAGGCTGGGGACTGGAATCCCCGCCTTGCCGCTTACGCGCCATAGATTCCTCATCTGTCAGCACCGCAGAAAGGCCCCCTCCTCGCTGGGGTGTG | CCTACTCCACAGTTCTCCAGACCTTGCCAGTGTGGCGGGTGGAGCCAAAGAATCACACCAGAAAAAGAACACAGGCCACTAGTTCCCATTTTGGAAGAAAAGCTGCCCCAGGGGCCACAGGCACCCAGCCGGCTCTCACAACAGCAGCCCAGGGCAACCACATAGAGCCCTTCTCAGATAGGCCGCCTCCACCAGGCAGAGGGAACAGCGAGACAAGCACTGCTGAACCAGCAAAGACAGCCAGGTGGAGGCAGCTGGAGGGAGGGGAACACGCAGGGCTTAGGCTGAACCACAGGGCACTGGGGAGCCATGGGAGGTTGTTGAGCTGGTGAGGGACTTTGATTTCCATTTTTTTTGTTTTTGTTTTGTTGAGATGGAGTCTCGGTCTGTTGCCCAGGCTGGAGTACAACGGTGCAATCTCGGCTCACAGCAACCTCCGCCTCCCATGTTCAAGTGATTCTCATGCCTCAGCCTCCCGAGTAGCTGGAATTACAGGCGCCCGCCACCACGCCTGGCTAACTTTTGTATTTTTAGTAGAGATGGGATTCTGCCATGTTGGCCAGGCTAGGCTCAAACTCCTGGGCTCAAGTGATCCACCCGCCTTGGCCTTCCGAAGTGCCGGGATCACAGGTGTGAGCCACCACGCCCAGCCTGATTTCCATTTTTTTTTTAAATTTTCTTTCTTTCTTTCTTTCTTTCTTTTTTCTTGAGACAGGGTCTGGCTCTGTTACCCAGGCTGGAGTGCAGTGGTTCGATCTGGGCTCACTGCAACCTCTGCCCCTGGGGCCCAAGCAATCCTCCTACCTCAGCCTCCCAAGTAGCTGGGAGTACAGGCACACGCCACCACGCCCAGCTAGTTTTTTGTATTTTTTTTTTTTAGGAAAGATGAGGTCTTGCTCTGTAGCCCAGGCTGGTCTTGAACTCCTAGGCTCAAGCAATCTGCCCACCTCGGCCTTCCACAGTGCTGGGATTATAGACCTGAGCCACTGCTCCTGGCAGCCACTGCGCCAGGCAAAGGACTTTGATTTCTAAATGAACCAGCACAGTCCAGCCCACCCAGGGGGTCAGGAAGGGACCCTCCCCAGGTAGCAAGGTGGCTCCAGCAGCCCCTTCCCACCCCCATCCAAGGTCACTTCCTGGAGACCCATGGGGAACTTCAGGTGGGCGCACCTCAAACATGATGGTGATGTCTGAGTACTTGGACTTCATCAGCTCCCCCCAGGAGGTGAGGTTGCAGTAGGTGAGGACGCCCCCCGGCTTCAGCAGGCGAAAGGCGTGGTTCTGTGGAAGGGGAGTGGCCAGTGGTCAGGACGGAGGTGGGGGTGTGGGCAGAGGGGCTTCCCCGAGGGCCTCCCGCATCCCAGCAAGTCAGAGAGAACCACCTTGATGAAGTTGAACTGGTGTGTGTGCCAGGTCTCCTCCGAGAGTGGGTACGTGTCGTACAGGATCCCTGCACGGAGAACAGAAGCCCACGCGGTCAGGGCCGGGCTCAGCGCCTCACCCAGCCTCACCCGGCTCATCCCCCAGCGGGTGGAGGTGCAGTGAGACGGGGCCGTGGGTAGAGGTGGGGCTCCCACACAGGCTTGAGAACCCCGAGATCGCCTCCAGGGCCCCTCCGTGAGCATGCCCATCCCCGGTGCTCCGCCATCCCACAGCCAGGCCCACACCCACTTGGGCTCTGTCCCCCCAGTGCACATCAGAGGGACCCCCACAAGCAAAGGAGGGGCTGCATTGGAGCTGGGGAGGCCCACCCTGTGATACGTCCCCTCACCCCTCACCATCAAAGTGACCGTCAGGCAGGGTGGGTGCCACATCCTCCCACAGGCCTTTCAAGGGGATGACCTTGCAGAGGGGAAAAGAAAAAGAGAGGACAGGGTAGAGAGGTCCCCAGGATCTCCCCACCTGCAGAAAGGGAGCGGCCAGGGGGACTCCCGAGAGAGAAGACCACCTCCTCCACCTCTGACAGCCCCAGGCCCCCAACCCCCAGGAAGCAGTGCCCTCACCCCAAGGAGTGGGGGTCCTGGAGGGCCTGCGGGCAGAGGGGCACCTTGTGTCTGCCGTGGGGCCCAGTCCCGGAGCCGCTGGAAGACGCCGTCATTGCACTCGATGATCCAATGCTCATCAATGGGCGCCTCCTGCACCTTTGACGCTGCGATGGCCATGCCAAAGCCCACCTCCAGGACCCGGCCCCCTGGGCAGACACAGGGCGCCTGGCATCACTAGGTGGGGCGGGCTTAGGAGGCTGCCTGGAGGAGGGGCACAGGGCAGGGCAGGGCTGGGGAGACTGCCTGGAGGAGGGGGCGCAGGGCTGGGCTGGGGGTCTGCCTGGAGGGGGGCGTGCAGAGCAGGGCTGGAGAGGCTGCCTGGAGGAGGGGGTGTGGGGCAATGCTGGGGAGGCTGCCTGGAGGAGGGGGTGCGGGGCAGGGCTGGAGAGGCTGCCAGGAGGAGGGGATGCAGGGCTGGGGAGGCTGTCTGGAAGAGGGGGTGCAGAGCAGGGCTGGGGAGGCTTCCTGGAGGAGGGGGCACAGGGTAGGGCAGGGCTGAGCTGGGGGTCTGCTTGGAGGAGGGGGTGCAGGGCTGAACTAGGCTATGTGAGTCACATTTGCCACAGGACGGGAGGGCACCCTGGGCCAGCATGGACAGAGGCGGGCGGAACACAGTAGTCCTGAGCGGGAACAGCGTGGGCCCTGGCCAGCGGCCAGAGAGAGGATGACCAGCCAGGGAGGCCGAAGACGGCCGCTTTTGGGGCCAGGCCTGTGGGGAGGCGAGAGCCTTGGACTTTGAGCCCAGCCCACGCTGTTTGTCCCGGGTCCCTTATCTCTCGGGTTAGTTACTTTTCTCTCCCCCTCCCTCTATCCGAAAGTTGGATTTGCAAGAGTGGCCAGGCAAGACCTGGACTTGAGACTATCTGGGAGGGGAAGGACTGGTCCCCAGTGGGCCACACATGGGCCCCCCGCTCAATCCTGATTGGCACTGGACACTGGACGTGCCCATTTTCAGGGTGGGAACACTGAGGCCCGACCCCTGGACGGGGCCTGTGTGGGGCCAGGGAGTCCTTTCTTAGCAGCCCTTAGCGTCTGACGCCAGGCAGGCCAGGGCCACCCCGGGGACAGCTGTCTCCCTGAGCTCAGCTTTCCGAGTGCTATTCTTAGCCGGGCGAGTCGGGGCTGCTCTCCCAGGCAGGCAGAAGGGCAGCCTCTCCCTGGCACGACCCCTTCCTCCCGACCTCAGACAGGGAGCTGGGGACCCGGTTCCACCCAGTTTCACCCAGGTCTCACGTTTGAGGTCCCCATCTGGAGAGCGGGGGGCCTCACTCCCCCTGGAGAGGAAGTTTCTGGTACTTAGGCGGTGCCTAACGTGTGCGGGCCCCACGCCTGCCGCACTCCCCGTGAACGCCTCCGTGTGCCCCCACCTGCAGCCCCACTTCCCAGGCGAGGAGACAGAGGCGCCCCGGCGGGAGGGTGGGCTGCAGAGTCCCCGGGTCGGGGCAGCCCCGGCCTCAGTTTCCCCTGCGCCCCCGGGGGCGGTGCAGGCCGGGCGGGGGCTACCTTTGGAGGAGGCGGCGGCGGCCAGCGCGTGCATATAGGGGGTCTCCCAGCGCTCCATCACCGGCTTGCCCAGGATGCGCAGGTGCGTGTCCGCTGCGTCGTAGGCCGCGGGCGCCGCCCCCCACGCGGGGCTGCAGTTCTCGCCGGGCGCGAAGATGGGGGTCGCGCTGGGGGCGCTCATGCTGCAGGCTGGACGGCGACCCGACCTCGATCGCGCGCCGCCCGGGCCCGCTCCCTGCAGGGGCTTGTGGGCCGGGGGCGGGTCCAACAGGCCCGGGGGGCGGACCCGCGAGAGGACGCGCGCGCGCGGCTCCGGGAGCGGCCTCTAGCGGCGGCCACGCGAGAGGTGGCGGGAGTGGGGTCGGGGCCCCGGCCGCCCCCTCCCCAAGGAGCCTCGGTGCCCCCTCTGCGGAGCGGGCACCGCAGCCCCGCGCCCGGGGACGCGAACCTGCAGGCTGGGGACTGGAATCCCCGCCTTGCCGCTTACGCGCCATAGATTCCTCATCTGTCAGCACCGCAGAAAGGCCCCCTCCTCGCTGGGGTGTGNN | pathogenic | 293,385 |
Mutation at chromosome 19, position 1399808, within GAMT (guanidinoacetate N-methyltransferase): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Cerebral_creatine_deficiency_syndrome', 'Deficiency_of_guanidinoacetate_methyltransferase', 'Inborn_genetic_diseases'] | CTCCAGACCTTGCCAGTGTGGCGGGTGGAGCCAAAGAATCACACCAGAAAAAGAACACAGGCCACTAGTTCCCATTTTGGAAGAAAAGCTGCCCCAGGGGCCACAGGCACCCAGCCGGCTCTCACAACAGCAGCCCAGGGCAACCACATAGAGCCCTTCTCAGATAGGCCGCCTCCACCAGGCAGAGGGAACAGCGAGACAAGCACTGCTGAACCAGCAAAGACAGCCAGGTGGAGGCAGCTGGAGGGAGGGGAACACGCAGGGCTTAGGCTGAACCACAGGGCACTGGGGAGCCATGGGAGGTTGTTGAGCTGGTGAGGGACTTTGATTTCCATTTTTTTTGTTTTTGTTTTGTTGAGATGGAGTCTCGGTCTGTTGCCCAGGCTGGAGTACAACGGTGCAATCTCGGCTCACAGCAACCTCCGCCTCCCATGTTCAAGTGATTCTCATGCCTCAGCCTCCCGAGTAGCTGGAATTACAGGCGCCCGCCACCACGCCTGGCTAACTTTTGTATTTTTAGTAGAGATGGGATTCTGCCATGTTGGCCAGGCTAGGCTCAAACTCCTGGGCTCAAGTGATCCACCCGCCTTGGCCTTCCGAAGTGCCGGGATCACAGGTGTGAGCCACCACGCCCAGCCTGATTTCCATTTTTTTTTTAAATTTTCTTTCTTTCTTTCTTTCTTTCTTTTTTCTTGAGACAGGGTCTGGCTCTGTTACCCAGGCTGGAGTGCAGTGGTTCGATCTGGGCTCACTGCAACCTCTGCCCCTGGGGCCCAAGCAATCCTCCTACCTCAGCCTCCCAAGTAGCTGGGAGTACAGGCACACGCCACCACGCCCAGCTAGTTTTTTGTATTTTTTTTTTTTAGGAAAGATGAGGTCTTGCTCTGTAGCCCAGGCTGGTCTTGAACTCCTAGGCTCAAGCAATCTGCCCACCTCGGCCTTCCACAGTGCTGGGATTATAGACCTGAGCCACTGCTCCTGGCAGCCACTGCGCCAGGCAAAGGACTTTGATTTCTAAATGAACCAGCACAGTCCAGCCCACCCAGGGGGTCAGGAAGGGACCCTCCCCAGGTAGCAAGGTGGCTCCAGCAGCCCCTTCCCACCCCCATCCAAGGTCACTTCCTGGAGACCCATGGGGAACTTCAGGTGGGCGCACCTCAAACATGATGGTGATGTCTGAGTACTTGGACTTCATCAGCTCCCCCCAGGAGGTGAGGTTGCAGTAGGTGAGGACGCCCCCCGGCTTCAGCAGGCGAAAGGCGTGGTTCTGTGGAAGGGGAGTGGCCAGTGGTCAGGACGGAGGTGGGGGTGTGGGCAGAGGGGCTTCCCCGAGGGCCTCCCGCATCCCAGCAAGTCAGAGAGAACCACCTTGATGAAGTTGAACTGGTGTGTGTGCCAGGTCTCCTCCGAGAGTGGGTACGTGTCGTACAGGATCCCTGCACGGAGAACAGAAGCCCACGCGGTCAGGGCCGGGCTCAGCGCCTCACCCAGCCTCACCCGGCTCATCCCCCAGCGGGTGGAGGTGCAGTGAGACGGGGCCGTGGGTAGAGGTGGGGCTCCCACACAGGCTTGAGAACCCCGAGATCGCCTCCAGGGCCCCTCCGTGAGCATGCCCATCCCCGGTGCTCCGCCATCCCACAGCCAGGCCCACACCCACTTGGGCTCTGTCCCCCCAGTGCACATCAGAGGGACCCCCACAAGCAAAGGAGGGGCTGCATTGGAGCTGGGGAGGCCCACCCTGTGATACGTCCCCTCACCCCTCACCATCAAAGTGACCGTCAGGCAGGGTGGGTGCCACATCCTCCCACAGGCCTTTCAAGGGGATGACCTTGCAGAGGGGAAAAGAAAAAGAGAGGACAGGGTAGAGAGGTCCCCAGGATCTCCCCACCTGCAGAAAGGGAGCGGCCAGGGGGACTCCCGAGAGAGAAGACCACCTCCTCCACCTCTGACAGCCCCAGGCCCCCAACCCCCAGGAAGCAGTGCCCTCACCCCAAGGAGTGGGGGTCCTGGAGGGCCTGCGGGCAGAGGGGCACCTTGTGTGTCTGCCGTGGGGCCCAGTCCCGGAGCCGCTGGAAGACGCCGTCATTGCACTCGATGATCCAATGCTCATCAATGGGCGCCTCCTGCACCTTTGACGCTGCGATGGCCATGCCAAAGCCCACCTCCAGGACCCGGCCCCCTGGGCAGACACAGGGCGCCTGGCATCACTAGGTGGGGCGGGCTTAGGAGGCTGCCTGGAGGAGGGGCACAGGGCAGGGCAGGGCTGGGGAGACTGCCTGGAGGAGGGGGCGCAGGGCTGGGCTGGGGGTCTGCCTGGAGGGGGGCGTGCAGAGCAGGGCTGGAGAGGCTGCCTGGAGGAGGGGGTGTGGGGCAATGCTGGGGAGGCTGCCTGGAGGAGGGGGTGCGGGGCAGGGCTGGAGAGGCTGCCAGGAGGAGGGGATGCAGGGCTGGGGAGGCTGTCTGGAAGAGGGGGTGCAGAGCAGGGCTGGGGAGGCTTCCTGGAGGAGGGGGCACAGGGTAGGGCAGGGCTGAGCTGGGGGTCTGCTTGGAGGAGGGGGTGCAGGGCTGAACTAGGCTATGTGAGTCACATTTGCCACAGGACGGGAGGGCACCCTGGGCCAGCATGGACAGAGGCGGGCGGAACACAGTAGTCCTGAGCGGGAACAGCGTGGGCCCTGGCCAGCGGCCAGAGAGAGGATGACCAGCCAGGGAGGCCGAAGACGGCCGCTTTTGGGGCCAGGCCTGTGGGGAGGCGAGAGCCTTGGACTTTGAGCCCAGCCCACGCTGTTTGTCCCGGGTCCCTTATCTCTCGGGTTAGTTACTTTTCTCTCCCCCTCCCTCTATCCGAAAGTTGGATTTGCAAGAGTGGCCAGGCAAGACCTGGACTTGAGACTATCTGGGAGGGGAAGGACTGGTCCCCAGTGGGCCACACATGGGCCCCCCGCTCAATCCTGATTGGCACTGGACACTGGACGTGCCCATTTTCAGGGTGGGAACACTGAGGCCCGACCCCTGGACGGGGCCTGTGTGGGGCCAGGGAGTCCTTTCTTAGCAGCCCTTAGCGTCTGACGCCAGGCAGGCCAGGGCCACCCCGGGGACAGCTGTCTCCCTGAGCTCAGCTTTCCGAGTGCTATTCTTAGCCGGGCGAGTCGGGGCTGCTCTCCCAGGCAGGCAGAAGGGCAGCCTCTCCCTGGCACGACCCCTTCCTCCCGACCTCAGACAGGGAGCTGGGGACCCGGTTCCACCCAGTTTCACCCAGGTCTCACGTTTGAGGTCCCCATCTGGAGAGCGGGGGGCCTCACTCCCCCTGGAGAGGAAGTTTCTGGTACTTAGGCGGTGCCTAACGTGTGCGGGCCCCACGCCTGCCGCACTCCCCGTGAACGCCTCCGTGTGCCCCCACCTGCAGCCCCACTTCCCAGGCGAGGAGACAGAGGCGCCCCGGCGGGAGGGTGGGCTGCAGAGTCCCCGGGTCGGGGCAGCCCCGGCCTCAGTTTCCCCTGCGCCCCCGGGGGCGGTGCAGGCCGGGCGGGGGCTACCTTTGGAGGAGGCGGCGGCGGCCAGCGCGTGCATATAGGGGGTCTCCCAGCGCTCCATCACCGGCTTGCCCAGGATGCGCAGGTGCGTGTCCGCTGCGTCGTAGGCCGCGGGCGCCGCCCCCCACGCGGGGCTGCAGTTCTCGCCGGGCGCGAAGATGGGGGTCGCGCTGGGGGCGCTCATGCTGCAGGCTGGACGGCGACCCGACCTCGATCGCGCGCCGCCCGGGCCCGCTCCCTGCAGGGGCTTGTGGGCCGGGGGCGGGTCCAACAGGCCCGGGGGGCGGACCCGCGAGAGGACGCGCGCGCGCGGCTCCGGGAGCGGCCTCTAGCGGCGGCCACGCGAGAGGTGGCGGGAGTGGGGTCGGGGCCCCGGCCGCCCCCTCCCCAAGGAGCCTCGGTGCCCCCTCTGCGGAGCGGGCACCGCAGCCCCGCGCCCGGGGACGCGAACCTGCAGGCTGGGGACTGGAATCCCCGCCTTGCCGCTTACGCGCCATAGATTCCTCATCTGTCAGCACCGCAGAAAGGCCCCCTCCTCGCTGGGGTGTGAGAATCTGAGGATC | CTCCAGACCTTGCCAGTGTGGCGGGTGGAGCCAAAGAATCACACCAGAAAAAGAACACAGGCCACTAGTTCCCATTTTGGAAGAAAAGCTGCCCCAGGGGCCACAGGCACCCAGCCGGCTCTCACAACAGCAGCCCAGGGCAACCACATAGAGCCCTTCTCAGATAGGCCGCCTCCACCAGGCAGAGGGAACAGCGAGACAAGCACTGCTGAACCAGCAAAGACAGCCAGGTGGAGGCAGCTGGAGGGAGGGGAACACGCAGGGCTTAGGCTGAACCACAGGGCACTGGGGAGCCATGGGAGGTTGTTGAGCTGGTGAGGGACTTTGATTTCCATTTTTTTTGTTTTTGTTTTGTTGAGATGGAGTCTCGGTCTGTTGCCCAGGCTGGAGTACAACGGTGCAATCTCGGCTCACAGCAACCTCCGCCTCCCATGTTCAAGTGATTCTCATGCCTCAGCCTCCCGAGTAGCTGGAATTACAGGCGCCCGCCACCACGCCTGGCTAACTTTTGTATTTTTAGTAGAGATGGGATTCTGCCATGTTGGCCAGGCTAGGCTCAAACTCCTGGGCTCAAGTGATCCACCCGCCTTGGCCTTCCGAAGTGCCGGGATCACAGGTGTGAGCCACCACGCCCAGCCTGATTTCCATTTTTTTTTTAAATTTTCTTTCTTTCTTTCTTTCTTTCTTTTTTCTTGAGACAGGGTCTGGCTCTGTTACCCAGGCTGGAGTGCAGTGGTTCGATCTGGGCTCACTGCAACCTCTGCCCCTGGGGCCCAAGCAATCCTCCTACCTCAGCCTCCCAAGTAGCTGGGAGTACAGGCACACGCCACCACGCCCAGCTAGTTTTTTGTATTTTTTTTTTTTAGGAAAGATGAGGTCTTGCTCTGTAGCCCAGGCTGGTCTTGAACTCCTAGGCTCAAGCAATCTGCCCACCTCGGCCTTCCACAGTGCTGGGATTATAGACCTGAGCCACTGCTCCTGGCAGCCACTGCGCCAGGCAAAGGACTTTGATTTCTAAATGAACCAGCACAGTCCAGCCCACCCAGGGGGTCAGGAAGGGACCCTCCCCAGGTAGCAAGGTGGCTCCAGCAGCCCCTTCCCACCCCCATCCAAGGTCACTTCCTGGAGACCCATGGGGAACTTCAGGTGGGCGCACCTCAAACATGATGGTGATGTCTGAGTACTTGGACTTCATCAGCTCCCCCCAGGAGGTGAGGTTGCAGTAGGTGAGGACGCCCCCCGGCTTCAGCAGGCGAAAGGCGTGGTTCTGTGGAAGGGGAGTGGCCAGTGGTCAGGACGGAGGTGGGGGTGTGGGCAGAGGGGCTTCCCCGAGGGCCTCCCGCATCCCAGCAAGTCAGAGAGAACCACCTTGATGAAGTTGAACTGGTGTGTGTGCCAGGTCTCCTCCGAGAGTGGGTACGTGTCGTACAGGATCCCTGCACGGAGAACAGAAGCCCACGCGGTCAGGGCCGGGCTCAGCGCCTCACCCAGCCTCACCCGGCTCATCCCCCAGCGGGTGGAGGTGCAGTGAGACGGGGCCGTGGGTAGAGGTGGGGCTCCCACACAGGCTTGAGAACCCCGAGATCGCCTCCAGGGCCCCTCCGTGAGCATGCCCATCCCCGGTGCTCCGCCATCCCACAGCCAGGCCCACACCCACTTGGGCTCTGTCCCCCCAGTGCACATCAGAGGGACCCCCACAAGCAAAGGAGGGGCTGCATTGGAGCTGGGGAGGCCCACCCTGTGATACGTCCCCTCACCCCTCACCATCAAAGTGACCGTCAGGCAGGGTGGGTGCCACATCCTCCCACAGGCCTTTCAAGGGGATGACCTTGCAGAGGGGAAAAGAAAAAGAGAGGACAGGGTAGAGAGGTCCCCAGGATCTCCCCACCTGCAGAAAGGGAGCGGCCAGGGGGACTCCCGAGAGAGAAGACCACCTCCTCCACCTCTGACAGCCCCAGGCCCCCAACCCCCAGGAAGCAGTGCCCTCACCCCAAGGAGTGGGGGTCCTGGAGGGCCTGCGGGCAGAGGGGCACCTTGTGTGTCTGCCGTGGGGCCCAGTCCCGGGGCCCAGTCCCGGAGCCGCTGGAAGACGCCGTCATTGCACTCGATGATCCAATGCTCATCAATGGGCGCCTCCTGCACCTTTGACGCTGCGATGGCCATGCCAAAGCCCACCTCCAGGACCCGGCCCCCTGGGCAGACACAGGGCGCCTGGCATCACTAGGTGGGGCGGGCTTAGGAGGCTGCCTGGAGGAGGGGCACAGGGCAGGGCAGGGCTGGGGAGACTGCCTGGAGGAGGGGGCGCAGGGCTGGGCTGGGGGTCTGCCTGGAGGGGGGCGTGCAGAGCAGGGCTGGAGAGGCTGCCTGGAGGAGGGGGTGTGGGGCAATGCTGGGGAGGCTGCCTGGAGGAGGGGGTGCGGGGCAGGGCTGGAGAGGCTGCCAGGAGGAGGGGATGCAGGGCTGGGGAGGCTGTCTGGAAGAGGGGGTGCAGAGCAGGGCTGGGGAGGCTTCCTGGAGGAGGGGGCACAGGGTAGGGCAGGGCTGAGCTGGGGGTCTGCTTGGAGGAGGGGGTGCAGGGCTGAACTAGGCTATGTGAGTCACATTTGCCACAGGACGGGAGGGCACCCTGGGCCAGCATGGACAGAGGCGGGCGGAACACAGTAGTCCTGAGCGGGAACAGCGTGGGCCCTGGCCAGCGGCCAGAGAGAGGATGACCAGCCAGGGAGGCCGAAGACGGCCGCTTTTGGGGCCAGGCCTGTGGGGAGGCGAGAGCCTTGGACTTTGAGCCCAGCCCACGCTGTTTGTCCCGGGTCCCTTATCTCTCGGGTTAGTTACTTTTCTCTCCCCCTCCCTCTATCCGAAAGTTGGATTTGCAAGAGTGGCCAGGCAAGACCTGGACTTGAGACTATCTGGGAGGGGAAGGACTGGTCCCCAGTGGGCCACACATGGGCCCCCCGCTCAATCCTGATTGGCACTGGACACTGGACGTGCCCATTTTCAGGGTGGGAACACTGAGGCCCGACCCCTGGACGGGGCCTGTGTGGGGCCAGGGAGTCCTTTCTTAGCAGCCCTTAGCGTCTGACGCCAGGCAGGCCAGGGCCACCCCGGGGACAGCTGTCTCCCTGAGCTCAGCTTTCCGAGTGCTATTCTTAGCCGGGCGAGTCGGGGCTGCTCTCCCAGGCAGGCAGAAGGGCAGCCTCTCCCTGGCACGACCCCTTCCTCCCGACCTCAGACAGGGAGCTGGGGACCCGGTTCCACCCAGTTTCACCCAGGTCTCACGTTTGAGGTCCCCATCTGGAGAGCGGGGGGCCTCACTCCCCCTGGAGAGGAAGTTTCTGGTACTTAGGCGGTGCCTAACGTGTGCGGGCCCCACGCCTGCCGCACTCCCCGTGAACGCCTCCGTGTGCCCCCACCTGCAGCCCCACTTCCCAGGCGAGGAGACAGAGGCGCCCCGGCGGGAGGGTGGGCTGCAGAGTCCCCGGGTCGGGGCAGCCCCGGCCTCAGTTTCCCCTGCGCCCCCGGGGGCGGTGCAGGCCGGGCGGGGGCTACCTTTGGAGGAGGCGGCGGCGGCCAGCGCGTGCATATAGGGGGTCTCCCAGCGCTCCATCACCGGCTTGCCCAGGATGCGCAGGTGCGTGTCCGCTGCGTCGTAGGCCGCGGGCGCCGCCCCCCACGCGGGGCTGCAGTTCTCGCCGGGCGCGAAGATGGGGGTCGCGCTGGGGGCGCTCATGCTGCAGGCTGGACGGCGACCCGACCTCGATCGCGCGCCGCCCGGGCCCGCTCCCTGCAGGGGCTTGTGGGCCGGGGGCGGGTCCAACAGGCCCGGGGGGCGGACCCGCGAGAGGACGCGCGCGCGCGGCTCCGGGAGCGGCCTCTAGCGGCGGCCACGCGAGAGGTGGCGGGAGTGGGGTCGGGGCCCCGGCCGCCCCCTCCCCAAGGAGCCTCGGTGCCCCCTCTGCGGAGCGGGCACCGCAGCCCCGCGCCCGGGGACGCGAACCTGCAGGCTGGGGACTGGAATCCCCGCCTTGCCGCTTACGCGCCATAGATTCCTCATCTGTCAGCACCGCAGAAAGGCCCCCTCCTCGCTGGGGTGTGA | pathogenic | 293,390 |
Determine if the mutation at chromosome 19, position 1399812 in gene GAMT (guanidinoacetate N-methyltransferase) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Cerebral_creatine_deficiency_syndrome', 'Deficiency_of_guanidinoacetate_methyltransferase'] | AGACCTTGCCAGTGTGGCGGGTGGAGCCAAAGAATCACACCAGAAAAAGAACACAGGCCACTAGTTCCCATTTTGGAAGAAAAGCTGCCCCAGGGGCCACAGGCACCCAGCCGGCTCTCACAACAGCAGCCCAGGGCAACCACATAGAGCCCTTCTCAGATAGGCCGCCTCCACCAGGCAGAGGGAACAGCGAGACAAGCACTGCTGAACCAGCAAAGACAGCCAGGTGGAGGCAGCTGGAGGGAGGGGAACACGCAGGGCTTAGGCTGAACCACAGGGCACTGGGGAGCCATGGGAGGTTGTTGAGCTGGTGAGGGACTTTGATTTCCATTTTTTTTGTTTTTGTTTTGTTGAGATGGAGTCTCGGTCTGTTGCCCAGGCTGGAGTACAACGGTGCAATCTCGGCTCACAGCAACCTCCGCCTCCCATGTTCAAGTGATTCTCATGCCTCAGCCTCCCGAGTAGCTGGAATTACAGGCGCCCGCCACCACGCCTGGCTAACTTTTGTATTTTTAGTAGAGATGGGATTCTGCCATGTTGGCCAGGCTAGGCTCAAACTCCTGGGCTCAAGTGATCCACCCGCCTTGGCCTTCCGAAGTGCCGGGATCACAGGTGTGAGCCACCACGCCCAGCCTGATTTCCATTTTTTTTTTAAATTTTCTTTCTTTCTTTCTTTCTTTCTTTTTTCTTGAGACAGGGTCTGGCTCTGTTACCCAGGCTGGAGTGCAGTGGTTCGATCTGGGCTCACTGCAACCTCTGCCCCTGGGGCCCAAGCAATCCTCCTACCTCAGCCTCCCAAGTAGCTGGGAGTACAGGCACACGCCACCACGCCCAGCTAGTTTTTTGTATTTTTTTTTTTTAGGAAAGATGAGGTCTTGCTCTGTAGCCCAGGCTGGTCTTGAACTCCTAGGCTCAAGCAATCTGCCCACCTCGGCCTTCCACAGTGCTGGGATTATAGACCTGAGCCACTGCTCCTGGCAGCCACTGCGCCAGGCAAAGGACTTTGATTTCTAAATGAACCAGCACAGTCCAGCCCACCCAGGGGGTCAGGAAGGGACCCTCCCCAGGTAGCAAGGTGGCTCCAGCAGCCCCTTCCCACCCCCATCCAAGGTCACTTCCTGGAGACCCATGGGGAACTTCAGGTGGGCGCACCTCAAACATGATGGTGATGTCTGAGTACTTGGACTTCATCAGCTCCCCCCAGGAGGTGAGGTTGCAGTAGGTGAGGACGCCCCCCGGCTTCAGCAGGCGAAAGGCGTGGTTCTGTGGAAGGGGAGTGGCCAGTGGTCAGGACGGAGGTGGGGGTGTGGGCAGAGGGGCTTCCCCGAGGGCCTCCCGCATCCCAGCAAGTCAGAGAGAACCACCTTGATGAAGTTGAACTGGTGTGTGTGCCAGGTCTCCTCCGAGAGTGGGTACGTGTCGTACAGGATCCCTGCACGGAGAACAGAAGCCCACGCGGTCAGGGCCGGGCTCAGCGCCTCACCCAGCCTCACCCGGCTCATCCCCCAGCGGGTGGAGGTGCAGTGAGACGGGGCCGTGGGTAGAGGTGGGGCTCCCACACAGGCTTGAGAACCCCGAGATCGCCTCCAGGGCCCCTCCGTGAGCATGCCCATCCCCGGTGCTCCGCCATCCCACAGCCAGGCCCACACCCACTTGGGCTCTGTCCCCCCAGTGCACATCAGAGGGACCCCCACAAGCAAAGGAGGGGCTGCATTGGAGCTGGGGAGGCCCACCCTGTGATACGTCCCCTCACCCCTCACCATCAAAGTGACCGTCAGGCAGGGTGGGTGCCACATCCTCCCACAGGCCTTTCAAGGGGATGACCTTGCAGAGGGGAAAAGAAAAAGAGAGGACAGGGTAGAGAGGTCCCCAGGATCTCCCCACCTGCAGAAAGGGAGCGGCCAGGGGGACTCCCGAGAGAGAAGACCACCTCCTCCACCTCTGACAGCCCCAGGCCCCCAACCCCCAGGAAGCAGTGCCCTCACCCCAAGGAGTGGGGGTCCTGGAGGGCCTGCGGGCAGAGGGGCACCTTGTGTGTCTGCCGTGGGGCCCAGTCCCGGAGCCGCTGGAAGACGCCGTCATTGCACTCGATGATCCAATGCTCATCAATGGGCGCCTCCTGCACCTTTGACGCTGCGATGGCCATGCCAAAGCCCACCTCCAGGACCCGGCCCCCTGGGCAGACACAGGGCGCCTGGCATCACTAGGTGGGGCGGGCTTAGGAGGCTGCCTGGAGGAGGGGCACAGGGCAGGGCAGGGCTGGGGAGACTGCCTGGAGGAGGGGGCGCAGGGCTGGGCTGGGGGTCTGCCTGGAGGGGGGCGTGCAGAGCAGGGCTGGAGAGGCTGCCTGGAGGAGGGGGTGTGGGGCAATGCTGGGGAGGCTGCCTGGAGGAGGGGGTGCGGGGCAGGGCTGGAGAGGCTGCCAGGAGGAGGGGATGCAGGGCTGGGGAGGCTGTCTGGAAGAGGGGGTGCAGAGCAGGGCTGGGGAGGCTTCCTGGAGGAGGGGGCACAGGGTAGGGCAGGGCTGAGCTGGGGGTCTGCTTGGAGGAGGGGGTGCAGGGCTGAACTAGGCTATGTGAGTCACATTTGCCACAGGACGGGAGGGCACCCTGGGCCAGCATGGACAGAGGCGGGCGGAACACAGTAGTCCTGAGCGGGAACAGCGTGGGCCCTGGCCAGCGGCCAGAGAGAGGATGACCAGCCAGGGAGGCCGAAGACGGCCGCTTTTGGGGCCAGGCCTGTGGGGAGGCGAGAGCCTTGGACTTTGAGCCCAGCCCACGCTGTTTGTCCCGGGTCCCTTATCTCTCGGGTTAGTTACTTTTCTCTCCCCCTCCCTCTATCCGAAAGTTGGATTTGCAAGAGTGGCCAGGCAAGACCTGGACTTGAGACTATCTGGGAGGGGAAGGACTGGTCCCCAGTGGGCCACACATGGGCCCCCCGCTCAATCCTGATTGGCACTGGACACTGGACGTGCCCATTTTCAGGGTGGGAACACTGAGGCCCGACCCCTGGACGGGGCCTGTGTGGGGCCAGGGAGTCCTTTCTTAGCAGCCCTTAGCGTCTGACGCCAGGCAGGCCAGGGCCACCCCGGGGACAGCTGTCTCCCTGAGCTCAGCTTTCCGAGTGCTATTCTTAGCCGGGCGAGTCGGGGCTGCTCTCCCAGGCAGGCAGAAGGGCAGCCTCTCCCTGGCACGACCCCTTCCTCCCGACCTCAGACAGGGAGCTGGGGACCCGGTTCCACCCAGTTTCACCCAGGTCTCACGTTTGAGGTCCCCATCTGGAGAGCGGGGGGCCTCACTCCCCCTGGAGAGGAAGTTTCTGGTACTTAGGCGGTGCCTAACGTGTGCGGGCCCCACGCCTGCCGCACTCCCCGTGAACGCCTCCGTGTGCCCCCACCTGCAGCCCCACTTCCCAGGCGAGGAGACAGAGGCGCCCCGGCGGGAGGGTGGGCTGCAGAGTCCCCGGGTCGGGGCAGCCCCGGCCTCAGTTTCCCCTGCGCCCCCGGGGGCGGTGCAGGCCGGGCGGGGGCTACCTTTGGAGGAGGCGGCGGCGGCCAGCGCGTGCATATAGGGGGTCTCCCAGCGCTCCATCACCGGCTTGCCCAGGATGCGCAGGTGCGTGTCCGCTGCGTCGTAGGCCGCGGGCGCCGCCCCCCACGCGGGGCTGCAGTTCTCGCCGGGCGCGAAGATGGGGGTCGCGCTGGGGGCGCTCATGCTGCAGGCTGGACGGCGACCCGACCTCGATCGCGCGCCGCCCGGGCCCGCTCCCTGCAGGGGCTTGTGGGCCGGGGGCGGGTCCAACAGGCCCGGGGGGCGGACCCGCGAGAGGACGCGCGCGCGCGGCTCCGGGAGCGGCCTCTAGCGGCGGCCACGCGAGAGGTGGCGGGAGTGGGGTCGGGGCCCCGGCCGCCCCCTCCCCAAGGAGCCTCGGTGCCCCCTCTGCGGAGCGGGCACCGCAGCCCCGCGCCCGGGGACGCGAACCTGCAGGCTGGGGACTGGAATCCCCGCCTTGCCGCTTACGCGCCATAGATTCCTCATCTGTCAGCACCGCAGAAAGGCCCCCTCCTCGCTGGGGTGTGAGAATCTGAGGATCTTCC | AGACCTTGCCAGTGTGGCGGGTGGAGCCAAAGAATCACACCAGAAAAAGAACACAGGCCACTAGTTCCCATTTTGGAAGAAAAGCTGCCCCAGGGGCCACAGGCACCCAGCCGGCTCTCACAACAGCAGCCCAGGGCAACCACATAGAGCCCTTCTCAGATAGGCCGCCTCCACCAGGCAGAGGGAACAGCGAGACAAGCACTGCTGAACCAGCAAAGACAGCCAGGTGGAGGCAGCTGGAGGGAGGGGAACACGCAGGGCTTAGGCTGAACCACAGGGCACTGGGGAGCCATGGGAGGTTGTTGAGCTGGTGAGGGACTTTGATTTCCATTTTTTTTGTTTTTGTTTTGTTGAGATGGAGTCTCGGTCTGTTGCCCAGGCTGGAGTACAACGGTGCAATCTCGGCTCACAGCAACCTCCGCCTCCCATGTTCAAGTGATTCTCATGCCTCAGCCTCCCGAGTAGCTGGAATTACAGGCGCCCGCCACCACGCCTGGCTAACTTTTGTATTTTTAGTAGAGATGGGATTCTGCCATGTTGGCCAGGCTAGGCTCAAACTCCTGGGCTCAAGTGATCCACCCGCCTTGGCCTTCCGAAGTGCCGGGATCACAGGTGTGAGCCACCACGCCCAGCCTGATTTCCATTTTTTTTTTAAATTTTCTTTCTTTCTTTCTTTCTTTCTTTTTTCTTGAGACAGGGTCTGGCTCTGTTACCCAGGCTGGAGTGCAGTGGTTCGATCTGGGCTCACTGCAACCTCTGCCCCTGGGGCCCAAGCAATCCTCCTACCTCAGCCTCCCAAGTAGCTGGGAGTACAGGCACACGCCACCACGCCCAGCTAGTTTTTTGTATTTTTTTTTTTTAGGAAAGATGAGGTCTTGCTCTGTAGCCCAGGCTGGTCTTGAACTCCTAGGCTCAAGCAATCTGCCCACCTCGGCCTTCCACAGTGCTGGGATTATAGACCTGAGCCACTGCTCCTGGCAGCCACTGCGCCAGGCAAAGGACTTTGATTTCTAAATGAACCAGCACAGTCCAGCCCACCCAGGGGGTCAGGAAGGGACCCTCCCCAGGTAGCAAGGTGGCTCCAGCAGCCCCTTCCCACCCCCATCCAAGGTCACTTCCTGGAGACCCATGGGGAACTTCAGGTGGGCGCACCTCAAACATGATGGTGATGTCTGAGTACTTGGACTTCATCAGCTCCCCCCAGGAGGTGAGGTTGCAGTAGGTGAGGACGCCCCCCGGCTTCAGCAGGCGAAAGGCGTGGTTCTGTGGAAGGGGAGTGGCCAGTGGTCAGGACGGAGGTGGGGGTGTGGGCAGAGGGGCTTCCCCGAGGGCCTCCCGCATCCCAGCAAGTCAGAGAGAACCACCTTGATGAAGTTGAACTGGTGTGTGTGCCAGGTCTCCTCCGAGAGTGGGTACGTGTCGTACAGGATCCCTGCACGGAGAACAGAAGCCCACGCGGTCAGGGCCGGGCTCAGCGCCTCACCCAGCCTCACCCGGCTCATCCCCCAGCGGGTGGAGGTGCAGTGAGACGGGGCCGTGGGTAGAGGTGGGGCTCCCACACAGGCTTGAGAACCCCGAGATCGCCTCCAGGGCCCCTCCGTGAGCATGCCCATCCCCGGTGCTCCGCCATCCCACAGCCAGGCCCACACCCACTTGGGCTCTGTCCCCCCAGTGCACATCAGAGGGACCCCCACAAGCAAAGGAGGGGCTGCATTGGAGCTGGGGAGGCCCACCCTGTGATACGTCCCCTCACCCCTCACCATCAAAGTGACCGTCAGGCAGGGTGGGTGCCACATCCTCCCACAGGCCTTTCAAGGGGATGACCTTGCAGAGGGGAAAAGAAAAAGAGAGGACAGGGTAGAGAGGTCCCCAGGATCTCCCCACCTGCAGAAAGGGAGCGGCCAGGGGGACTCCCGAGAGAGAAGACCACCTCCTCCACCTCTGACAGCCCCAGGCCCCCAACCCCCAGGAAGCAGTGCCCTCACCCCAAGGAGTGGGGGTCCTGGAGGGCCTGCGGGCAGAGGGGCACCTTGTGTGTCTGCCGTGGGGCCAGTCCCGGAGCCGCTGGAAGACGCCGTCATTGCACTCGATGATCCAATGCTCATCAATGGGCGCCTCCTGCACCTTTGACGCTGCGATGGCCATGCCAAAGCCCACCTCCAGGACCCGGCCCCCTGGGCAGACACAGGGCGCCTGGCATCACTAGGTGGGGCGGGCTTAGGAGGCTGCCTGGAGGAGGGGCACAGGGCAGGGCAGGGCTGGGGAGACTGCCTGGAGGAGGGGGCGCAGGGCTGGGCTGGGGGTCTGCCTGGAGGGGGGCGTGCAGAGCAGGGCTGGAGAGGCTGCCTGGAGGAGGGGGTGTGGGGCAATGCTGGGGAGGCTGCCTGGAGGAGGGGGTGCGGGGCAGGGCTGGAGAGGCTGCCAGGAGGAGGGGATGCAGGGCTGGGGAGGCTGTCTGGAAGAGGGGGTGCAGAGCAGGGCTGGGGAGGCTTCCTGGAGGAGGGGGCACAGGGTAGGGCAGGGCTGAGCTGGGGGTCTGCTTGGAGGAGGGGGTGCAGGGCTGAACTAGGCTATGTGAGTCACATTTGCCACAGGACGGGAGGGCACCCTGGGCCAGCATGGACAGAGGCGGGCGGAACACAGTAGTCCTGAGCGGGAACAGCGTGGGCCCTGGCCAGCGGCCAGAGAGAGGATGACCAGCCAGGGAGGCCGAAGACGGCCGCTTTTGGGGCCAGGCCTGTGGGGAGGCGAGAGCCTTGGACTTTGAGCCCAGCCCACGCTGTTTGTCCCGGGTCCCTTATCTCTCGGGTTAGTTACTTTTCTCTCCCCCTCCCTCTATCCGAAAGTTGGATTTGCAAGAGTGGCCAGGCAAGACCTGGACTTGAGACTATCTGGGAGGGGAAGGACTGGTCCCCAGTGGGCCACACATGGGCCCCCCGCTCAATCCTGATTGGCACTGGACACTGGACGTGCCCATTTTCAGGGTGGGAACACTGAGGCCCGACCCCTGGACGGGGCCTGTGTGGGGCCAGGGAGTCCTTTCTTAGCAGCCCTTAGCGTCTGACGCCAGGCAGGCCAGGGCCACCCCGGGGACAGCTGTCTCCCTGAGCTCAGCTTTCCGAGTGCTATTCTTAGCCGGGCGAGTCGGGGCTGCTCTCCCAGGCAGGCAGAAGGGCAGCCTCTCCCTGGCACGACCCCTTCCTCCCGACCTCAGACAGGGAGCTGGGGACCCGGTTCCACCCAGTTTCACCCAGGTCTCACGTTTGAGGTCCCCATCTGGAGAGCGGGGGGCCTCACTCCCCCTGGAGAGGAAGTTTCTGGTACTTAGGCGGTGCCTAACGTGTGCGGGCCCCACGCCTGCCGCACTCCCCGTGAACGCCTCCGTGTGCCCCCACCTGCAGCCCCACTTCCCAGGCGAGGAGACAGAGGCGCCCCGGCGGGAGGGTGGGCTGCAGAGTCCCCGGGTCGGGGCAGCCCCGGCCTCAGTTTCCCCTGCGCCCCCGGGGGCGGTGCAGGCCGGGCGGGGGCTACCTTTGGAGGAGGCGGCGGCGGCCAGCGCGTGCATATAGGGGGTCTCCCAGCGCTCCATCACCGGCTTGCCCAGGATGCGCAGGTGCGTGTCCGCTGCGTCGTAGGCCGCGGGCGCCGCCCCCCACGCGGGGCTGCAGTTCTCGCCGGGCGCGAAGATGGGGGTCGCGCTGGGGGCGCTCATGCTGCAGGCTGGACGGCGACCCGACCTCGATCGCGCGCCGCCCGGGCCCGCTCCCTGCAGGGGCTTGTGGGCCGGGGGCGGGTCCAACAGGCCCGGGGGGCGGACCCGCGAGAGGACGCGCGCGCGCGGCTCCGGGAGCGGCCTCTAGCGGCGGCCACGCGAGAGGTGGCGGGAGTGGGGTCGGGGCCCCGGCCGCCCCCTCCCCAAGGAGCCTCGGTGCCCCCTCTGCGGAGCGGGCACCGCAGCCCCGCGCCCGGGGACGCGAACCTGCAGGCTGGGGACTGGAATCCCCGCCTTGCCGCTTACGCGCCATAGATTCCTCATCTGTCAGCACCGCAGAAAGGCCCCCTCCTCGCTGGGGTGTGAGAATCTGAGGATCTTCCN | pathogenic | 293,391 |
Determine whether the variant at chromosome 19, position 1399818, in gene GAMT (guanidinoacetate N-methyltransferase) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Cerebral_creatine_deficiency_syndrome', 'Deficiency_of_guanidinoacetate_methyltransferase'] | TGCCAGTGTGGCGGGTGGAGCCAAAGAATCACACCAGAAAAAGAACACAGGCCACTAGTTCCCATTTTGGAAGAAAAGCTGCCCCAGGGGCCACAGGCACCCAGCCGGCTCTCACAACAGCAGCCCAGGGCAACCACATAGAGCCCTTCTCAGATAGGCCGCCTCCACCAGGCAGAGGGAACAGCGAGACAAGCACTGCTGAACCAGCAAAGACAGCCAGGTGGAGGCAGCTGGAGGGAGGGGAACACGCAGGGCTTAGGCTGAACCACAGGGCACTGGGGAGCCATGGGAGGTTGTTGAGCTGGTGAGGGACTTTGATTTCCATTTTTTTTGTTTTTGTTTTGTTGAGATGGAGTCTCGGTCTGTTGCCCAGGCTGGAGTACAACGGTGCAATCTCGGCTCACAGCAACCTCCGCCTCCCATGTTCAAGTGATTCTCATGCCTCAGCCTCCCGAGTAGCTGGAATTACAGGCGCCCGCCACCACGCCTGGCTAACTTTTGTATTTTTAGTAGAGATGGGATTCTGCCATGTTGGCCAGGCTAGGCTCAAACTCCTGGGCTCAAGTGATCCACCCGCCTTGGCCTTCCGAAGTGCCGGGATCACAGGTGTGAGCCACCACGCCCAGCCTGATTTCCATTTTTTTTTTAAATTTTCTTTCTTTCTTTCTTTCTTTCTTTTTTCTTGAGACAGGGTCTGGCTCTGTTACCCAGGCTGGAGTGCAGTGGTTCGATCTGGGCTCACTGCAACCTCTGCCCCTGGGGCCCAAGCAATCCTCCTACCTCAGCCTCCCAAGTAGCTGGGAGTACAGGCACACGCCACCACGCCCAGCTAGTTTTTTGTATTTTTTTTTTTTAGGAAAGATGAGGTCTTGCTCTGTAGCCCAGGCTGGTCTTGAACTCCTAGGCTCAAGCAATCTGCCCACCTCGGCCTTCCACAGTGCTGGGATTATAGACCTGAGCCACTGCTCCTGGCAGCCACTGCGCCAGGCAAAGGACTTTGATTTCTAAATGAACCAGCACAGTCCAGCCCACCCAGGGGGTCAGGAAGGGACCCTCCCCAGGTAGCAAGGTGGCTCCAGCAGCCCCTTCCCACCCCCATCCAAGGTCACTTCCTGGAGACCCATGGGGAACTTCAGGTGGGCGCACCTCAAACATGATGGTGATGTCTGAGTACTTGGACTTCATCAGCTCCCCCCAGGAGGTGAGGTTGCAGTAGGTGAGGACGCCCCCCGGCTTCAGCAGGCGAAAGGCGTGGTTCTGTGGAAGGGGAGTGGCCAGTGGTCAGGACGGAGGTGGGGGTGTGGGCAGAGGGGCTTCCCCGAGGGCCTCCCGCATCCCAGCAAGTCAGAGAGAACCACCTTGATGAAGTTGAACTGGTGTGTGTGCCAGGTCTCCTCCGAGAGTGGGTACGTGTCGTACAGGATCCCTGCACGGAGAACAGAAGCCCACGCGGTCAGGGCCGGGCTCAGCGCCTCACCCAGCCTCACCCGGCTCATCCCCCAGCGGGTGGAGGTGCAGTGAGACGGGGCCGTGGGTAGAGGTGGGGCTCCCACACAGGCTTGAGAACCCCGAGATCGCCTCCAGGGCCCCTCCGTGAGCATGCCCATCCCCGGTGCTCCGCCATCCCACAGCCAGGCCCACACCCACTTGGGCTCTGTCCCCCCAGTGCACATCAGAGGGACCCCCACAAGCAAAGGAGGGGCTGCATTGGAGCTGGGGAGGCCCACCCTGTGATACGTCCCCTCACCCCTCACCATCAAAGTGACCGTCAGGCAGGGTGGGTGCCACATCCTCCCACAGGCCTTTCAAGGGGATGACCTTGCAGAGGGGAAAAGAAAAAGAGAGGACAGGGTAGAGAGGTCCCCAGGATCTCCCCACCTGCAGAAAGGGAGCGGCCAGGGGGACTCCCGAGAGAGAAGACCACCTCCTCCACCTCTGACAGCCCCAGGCCCCCAACCCCCAGGAAGCAGTGCCCTCACCCCAAGGAGTGGGGGTCCTGGAGGGCCTGCGGGCAGAGGGGCACCTTGTGTGTCTGCCGTGGGGCCCAGTCCCGGAGCCGCTGGAAGACGCCGTCATTGCACTCGATGATCCAATGCTCATCAATGGGCGCCTCCTGCACCTTTGACGCTGCGATGGCCATGCCAAAGCCCACCTCCAGGACCCGGCCCCCTGGGCAGACACAGGGCGCCTGGCATCACTAGGTGGGGCGGGCTTAGGAGGCTGCCTGGAGGAGGGGCACAGGGCAGGGCAGGGCTGGGGAGACTGCCTGGAGGAGGGGGCGCAGGGCTGGGCTGGGGGTCTGCCTGGAGGGGGGCGTGCAGAGCAGGGCTGGAGAGGCTGCCTGGAGGAGGGGGTGTGGGGCAATGCTGGGGAGGCTGCCTGGAGGAGGGGGTGCGGGGCAGGGCTGGAGAGGCTGCCAGGAGGAGGGGATGCAGGGCTGGGGAGGCTGTCTGGAAGAGGGGGTGCAGAGCAGGGCTGGGGAGGCTTCCTGGAGGAGGGGGCACAGGGTAGGGCAGGGCTGAGCTGGGGGTCTGCTTGGAGGAGGGGGTGCAGGGCTGAACTAGGCTATGTGAGTCACATTTGCCACAGGACGGGAGGGCACCCTGGGCCAGCATGGACAGAGGCGGGCGGAACACAGTAGTCCTGAGCGGGAACAGCGTGGGCCCTGGCCAGCGGCCAGAGAGAGGATGACCAGCCAGGGAGGCCGAAGACGGCCGCTTTTGGGGCCAGGCCTGTGGGGAGGCGAGAGCCTTGGACTTTGAGCCCAGCCCACGCTGTTTGTCCCGGGTCCCTTATCTCTCGGGTTAGTTACTTTTCTCTCCCCCTCCCTCTATCCGAAAGTTGGATTTGCAAGAGTGGCCAGGCAAGACCTGGACTTGAGACTATCTGGGAGGGGAAGGACTGGTCCCCAGTGGGCCACACATGGGCCCCCCGCTCAATCCTGATTGGCACTGGACACTGGACGTGCCCATTTTCAGGGTGGGAACACTGAGGCCCGACCCCTGGACGGGGCCTGTGTGGGGCCAGGGAGTCCTTTCTTAGCAGCCCTTAGCGTCTGACGCCAGGCAGGCCAGGGCCACCCCGGGGACAGCTGTCTCCCTGAGCTCAGCTTTCCGAGTGCTATTCTTAGCCGGGCGAGTCGGGGCTGCTCTCCCAGGCAGGCAGAAGGGCAGCCTCTCCCTGGCACGACCCCTTCCTCCCGACCTCAGACAGGGAGCTGGGGACCCGGTTCCACCCAGTTTCACCCAGGTCTCACGTTTGAGGTCCCCATCTGGAGAGCGGGGGGCCTCACTCCCCCTGGAGAGGAAGTTTCTGGTACTTAGGCGGTGCCTAACGTGTGCGGGCCCCACGCCTGCCGCACTCCCCGTGAACGCCTCCGTGTGCCCCCACCTGCAGCCCCACTTCCCAGGCGAGGAGACAGAGGCGCCCCGGCGGGAGGGTGGGCTGCAGAGTCCCCGGGTCGGGGCAGCCCCGGCCTCAGTTTCCCCTGCGCCCCCGGGGGCGGTGCAGGCCGGGCGGGGGCTACCTTTGGAGGAGGCGGCGGCGGCCAGCGCGTGCATATAGGGGGTCTCCCAGCGCTCCATCACCGGCTTGCCCAGGATGCGCAGGTGCGTGTCCGCTGCGTCGTAGGCCGCGGGCGCCGCCCCCCACGCGGGGCTGCAGTTCTCGCCGGGCGCGAAGATGGGGGTCGCGCTGGGGGCGCTCATGCTGCAGGCTGGACGGCGACCCGACCTCGATCGCGCGCCGCCCGGGCCCGCTCCCTGCAGGGGCTTGTGGGCCGGGGGCGGGTCCAACAGGCCCGGGGGGCGGACCCGCGAGAGGACGCGCGCGCGCGGCTCCGGGAGCGGCCTCTAGCGGCGGCCACGCGAGAGGTGGCGGGAGTGGGGTCGGGGCCCCGGCCGCCCCCTCCCCAAGGAGCCTCGGTGCCCCCTCTGCGGAGCGGGCACCGCAGCCCCGCGCCCGGGGACGCGAACCTGCAGGCTGGGGACTGGAATCCCCGCCTTGCCGCTTACGCGCCATAGATTCCTCATCTGTCAGCACCGCAGAAAGGCCCCCTCCTCGCTGGGGTGTGAGAATCTGAGGATCTTCCAGGCGC | TGCCAGTGTGGCGGGTGGAGCCAAAGAATCACACCAGAAAAAGAACACAGGCCACTAGTTCCCATTTTGGAAGAAAAGCTGCCCCAGGGGCCACAGGCACCCAGCCGGCTCTCACAACAGCAGCCCAGGGCAACCACATAGAGCCCTTCTCAGATAGGCCGCCTCCACCAGGCAGAGGGAACAGCGAGACAAGCACTGCTGAACCAGCAAAGACAGCCAGGTGGAGGCAGCTGGAGGGAGGGGAACACGCAGGGCTTAGGCTGAACCACAGGGCACTGGGGAGCCATGGGAGGTTGTTGAGCTGGTGAGGGACTTTGATTTCCATTTTTTTTGTTTTTGTTTTGTTGAGATGGAGTCTCGGTCTGTTGCCCAGGCTGGAGTACAACGGTGCAATCTCGGCTCACAGCAACCTCCGCCTCCCATGTTCAAGTGATTCTCATGCCTCAGCCTCCCGAGTAGCTGGAATTACAGGCGCCCGCCACCACGCCTGGCTAACTTTTGTATTTTTAGTAGAGATGGGATTCTGCCATGTTGGCCAGGCTAGGCTCAAACTCCTGGGCTCAAGTGATCCACCCGCCTTGGCCTTCCGAAGTGCCGGGATCACAGGTGTGAGCCACCACGCCCAGCCTGATTTCCATTTTTTTTTTAAATTTTCTTTCTTTCTTTCTTTCTTTCTTTTTTCTTGAGACAGGGTCTGGCTCTGTTACCCAGGCTGGAGTGCAGTGGTTCGATCTGGGCTCACTGCAACCTCTGCCCCTGGGGCCCAAGCAATCCTCCTACCTCAGCCTCCCAAGTAGCTGGGAGTACAGGCACACGCCACCACGCCCAGCTAGTTTTTTGTATTTTTTTTTTTTAGGAAAGATGAGGTCTTGCTCTGTAGCCCAGGCTGGTCTTGAACTCCTAGGCTCAAGCAATCTGCCCACCTCGGCCTTCCACAGTGCTGGGATTATAGACCTGAGCCACTGCTCCTGGCAGCCACTGCGCCAGGCAAAGGACTTTGATTTCTAAATGAACCAGCACAGTCCAGCCCACCCAGGGGGTCAGGAAGGGACCCTCCCCAGGTAGCAAGGTGGCTCCAGCAGCCCCTTCCCACCCCCATCCAAGGTCACTTCCTGGAGACCCATGGGGAACTTCAGGTGGGCGCACCTCAAACATGATGGTGATGTCTGAGTACTTGGACTTCATCAGCTCCCCCCAGGAGGTGAGGTTGCAGTAGGTGAGGACGCCCCCCGGCTTCAGCAGGCGAAAGGCGTGGTTCTGTGGAAGGGGAGTGGCCAGTGGTCAGGACGGAGGTGGGGGTGTGGGCAGAGGGGCTTCCCCGAGGGCCTCCCGCATCCCAGCAAGTCAGAGAGAACCACCTTGATGAAGTTGAACTGGTGTGTGTGCCAGGTCTCCTCCGAGAGTGGGTACGTGTCGTACAGGATCCCTGCACGGAGAACAGAAGCCCACGCGGTCAGGGCCGGGCTCAGCGCCTCACCCAGCCTCACCCGGCTCATCCCCCAGCGGGTGGAGGTGCAGTGAGACGGGGCCGTGGGTAGAGGTGGGGCTCCCACACAGGCTTGAGAACCCCGAGATCGCCTCCAGGGCCCCTCCGTGAGCATGCCCATCCCCGGTGCTCCGCCATCCCACAGCCAGGCCCACACCCACTTGGGCTCTGTCCCCCCAGTGCACATCAGAGGGACCCCCACAAGCAAAGGAGGGGCTGCATTGGAGCTGGGGAGGCCCACCCTGTGATACGTCCCCTCACCCCTCACCATCAAAGTGACCGTCAGGCAGGGTGGGTGCCACATCCTCCCACAGGCCTTTCAAGGGGATGACCTTGCAGAGGGGAAAAGAAAAAGAGAGGACAGGGTAGAGAGGTCCCCAGGATCTCCCCACCTGCAGAAAGGGAGCGGCCAGGGGGACTCCCGAGAGAGAAGACCACCTCCTCCACCTCTGACAGCCCCAGGCCCCCAACCCCCAGGAAGCAGTGCCCTCACCCCAAGGAGTGGGGGTCCTGGAGGGCCTGCGGGCAGAGGGGCACCTTGTGTGTCTGCCGTGGGGCCCAGTCCGGAGCCGCTGGAAGACGCCGTCATTGCACTCGATGATCCAATGCTCATCAATGGGCGCCTCCTGCACCTTTGACGCTGCGATGGCCATGCCAAAGCCCACCTCCAGGACCCGGCCCCCTGGGCAGACACAGGGCGCCTGGCATCACTAGGTGGGGCGGGCTTAGGAGGCTGCCTGGAGGAGGGGCACAGGGCAGGGCAGGGCTGGGGAGACTGCCTGGAGGAGGGGGCGCAGGGCTGGGCTGGGGGTCTGCCTGGAGGGGGGCGTGCAGAGCAGGGCTGGAGAGGCTGCCTGGAGGAGGGGGTGTGGGGCAATGCTGGGGAGGCTGCCTGGAGGAGGGGGTGCGGGGCAGGGCTGGAGAGGCTGCCAGGAGGAGGGGATGCAGGGCTGGGGAGGCTGTCTGGAAGAGGGGGTGCAGAGCAGGGCTGGGGAGGCTTCCTGGAGGAGGGGGCACAGGGTAGGGCAGGGCTGAGCTGGGGGTCTGCTTGGAGGAGGGGGTGCAGGGCTGAACTAGGCTATGTGAGTCACATTTGCCACAGGACGGGAGGGCACCCTGGGCCAGCATGGACAGAGGCGGGCGGAACACAGTAGTCCTGAGCGGGAACAGCGTGGGCCCTGGCCAGCGGCCAGAGAGAGGATGACCAGCCAGGGAGGCCGAAGACGGCCGCTTTTGGGGCCAGGCCTGTGGGGAGGCGAGAGCCTTGGACTTTGAGCCCAGCCCACGCTGTTTGTCCCGGGTCCCTTATCTCTCGGGTTAGTTACTTTTCTCTCCCCCTCCCTCTATCCGAAAGTTGGATTTGCAAGAGTGGCCAGGCAAGACCTGGACTTGAGACTATCTGGGAGGGGAAGGACTGGTCCCCAGTGGGCCACACATGGGCCCCCCGCTCAATCCTGATTGGCACTGGACACTGGACGTGCCCATTTTCAGGGTGGGAACACTGAGGCCCGACCCCTGGACGGGGCCTGTGTGGGGCCAGGGAGTCCTTTCTTAGCAGCCCTTAGCGTCTGACGCCAGGCAGGCCAGGGCCACCCCGGGGACAGCTGTCTCCCTGAGCTCAGCTTTCCGAGTGCTATTCTTAGCCGGGCGAGTCGGGGCTGCTCTCCCAGGCAGGCAGAAGGGCAGCCTCTCCCTGGCACGACCCCTTCCTCCCGACCTCAGACAGGGAGCTGGGGACCCGGTTCCACCCAGTTTCACCCAGGTCTCACGTTTGAGGTCCCCATCTGGAGAGCGGGGGGCCTCACTCCCCCTGGAGAGGAAGTTTCTGGTACTTAGGCGGTGCCTAACGTGTGCGGGCCCCACGCCTGCCGCACTCCCCGTGAACGCCTCCGTGTGCCCCCACCTGCAGCCCCACTTCCCAGGCGAGGAGACAGAGGCGCCCCGGCGGGAGGGTGGGCTGCAGAGTCCCCGGGTCGGGGCAGCCCCGGCCTCAGTTTCCCCTGCGCCCCCGGGGGCGGTGCAGGCCGGGCGGGGGCTACCTTTGGAGGAGGCGGCGGCGGCCAGCGCGTGCATATAGGGGGTCTCCCAGCGCTCCATCACCGGCTTGCCCAGGATGCGCAGGTGCGTGTCCGCTGCGTCGTAGGCCGCGGGCGCCGCCCCCCACGCGGGGCTGCAGTTCTCGCCGGGCGCGAAGATGGGGGTCGCGCTGGGGGCGCTCATGCTGCAGGCTGGACGGCGACCCGACCTCGATCGCGCGCCGCCCGGGCCCGCTCCCTGCAGGGGCTTGTGGGCCGGGGGCGGGTCCAACAGGCCCGGGGGGCGGACCCGCGAGAGGACGCGCGCGCGCGGCTCCGGGAGCGGCCTCTAGCGGCGGCCACGCGAGAGGTGGCGGGAGTGGGGTCGGGGCCCCGGCCGCCCCCTCCCCAAGGAGCCTCGGTGCCCCCTCTGCGGAGCGGGCACCGCAGCCCCGCGCCCGGGGACGCGAACCTGCAGGCTGGGGACTGGAATCCCCGCCTTGCCGCTTACGCGCCATAGATTCCTCATCTGTCAGCACCGCAGAAAGGCCCCCTCCTCGCTGGGGTGTGAGAATCTGAGGATCTTCCAGGCGCN | pathogenic | 293,392 |
Variant in GAMT (guanidinoacetate N-methyltransferase), chromosome 19, position 1399830—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Cerebral_creatine_deficiency_syndrome', 'Deficiency_of_guanidinoacetate_methyltransferase'] | GGGTGGAGCCAAAGAATCACACCAGAAAAAGAACACAGGCCACTAGTTCCCATTTTGGAAGAAAAGCTGCCCCAGGGGCCACAGGCACCCAGCCGGCTCTCACAACAGCAGCCCAGGGCAACCACATAGAGCCCTTCTCAGATAGGCCGCCTCCACCAGGCAGAGGGAACAGCGAGACAAGCACTGCTGAACCAGCAAAGACAGCCAGGTGGAGGCAGCTGGAGGGAGGGGAACACGCAGGGCTTAGGCTGAACCACAGGGCACTGGGGAGCCATGGGAGGTTGTTGAGCTGGTGAGGGACTTTGATTTCCATTTTTTTTGTTTTTGTTTTGTTGAGATGGAGTCTCGGTCTGTTGCCCAGGCTGGAGTACAACGGTGCAATCTCGGCTCACAGCAACCTCCGCCTCCCATGTTCAAGTGATTCTCATGCCTCAGCCTCCCGAGTAGCTGGAATTACAGGCGCCCGCCACCACGCCTGGCTAACTTTTGTATTTTTAGTAGAGATGGGATTCTGCCATGTTGGCCAGGCTAGGCTCAAACTCCTGGGCTCAAGTGATCCACCCGCCTTGGCCTTCCGAAGTGCCGGGATCACAGGTGTGAGCCACCACGCCCAGCCTGATTTCCATTTTTTTTTTAAATTTTCTTTCTTTCTTTCTTTCTTTCTTTTTTCTTGAGACAGGGTCTGGCTCTGTTACCCAGGCTGGAGTGCAGTGGTTCGATCTGGGCTCACTGCAACCTCTGCCCCTGGGGCCCAAGCAATCCTCCTACCTCAGCCTCCCAAGTAGCTGGGAGTACAGGCACACGCCACCACGCCCAGCTAGTTTTTTGTATTTTTTTTTTTTAGGAAAGATGAGGTCTTGCTCTGTAGCCCAGGCTGGTCTTGAACTCCTAGGCTCAAGCAATCTGCCCACCTCGGCCTTCCACAGTGCTGGGATTATAGACCTGAGCCACTGCTCCTGGCAGCCACTGCGCCAGGCAAAGGACTTTGATTTCTAAATGAACCAGCACAGTCCAGCCCACCCAGGGGGTCAGGAAGGGACCCTCCCCAGGTAGCAAGGTGGCTCCAGCAGCCCCTTCCCACCCCCATCCAAGGTCACTTCCTGGAGACCCATGGGGAACTTCAGGTGGGCGCACCTCAAACATGATGGTGATGTCTGAGTACTTGGACTTCATCAGCTCCCCCCAGGAGGTGAGGTTGCAGTAGGTGAGGACGCCCCCCGGCTTCAGCAGGCGAAAGGCGTGGTTCTGTGGAAGGGGAGTGGCCAGTGGTCAGGACGGAGGTGGGGGTGTGGGCAGAGGGGCTTCCCCGAGGGCCTCCCGCATCCCAGCAAGTCAGAGAGAACCACCTTGATGAAGTTGAACTGGTGTGTGTGCCAGGTCTCCTCCGAGAGTGGGTACGTGTCGTACAGGATCCCTGCACGGAGAACAGAAGCCCACGCGGTCAGGGCCGGGCTCAGCGCCTCACCCAGCCTCACCCGGCTCATCCCCCAGCGGGTGGAGGTGCAGTGAGACGGGGCCGTGGGTAGAGGTGGGGCTCCCACACAGGCTTGAGAACCCCGAGATCGCCTCCAGGGCCCCTCCGTGAGCATGCCCATCCCCGGTGCTCCGCCATCCCACAGCCAGGCCCACACCCACTTGGGCTCTGTCCCCCCAGTGCACATCAGAGGGACCCCCACAAGCAAAGGAGGGGCTGCATTGGAGCTGGGGAGGCCCACCCTGTGATACGTCCCCTCACCCCTCACCATCAAAGTGACCGTCAGGCAGGGTGGGTGCCACATCCTCCCACAGGCCTTTCAAGGGGATGACCTTGCAGAGGGGAAAAGAAAAAGAGAGGACAGGGTAGAGAGGTCCCCAGGATCTCCCCACCTGCAGAAAGGGAGCGGCCAGGGGGACTCCCGAGAGAGAAGACCACCTCCTCCACCTCTGACAGCCCCAGGCCCCCAACCCCCAGGAAGCAGTGCCCTCACCCCAAGGAGTGGGGGTCCTGGAGGGCCTGCGGGCAGAGGGGCACCTTGTGTGTCTGCCGTGGGGCCCAGTCCCGGAGCCGCTGGAAGACGCCGTCATTGCACTCGATGATCCAATGCTCATCAATGGGCGCCTCCTGCACCTTTGACGCTGCGATGGCCATGCCAAAGCCCACCTCCAGGACCCGGCCCCCTGGGCAGACACAGGGCGCCTGGCATCACTAGGTGGGGCGGGCTTAGGAGGCTGCCTGGAGGAGGGGCACAGGGCAGGGCAGGGCTGGGGAGACTGCCTGGAGGAGGGGGCGCAGGGCTGGGCTGGGGGTCTGCCTGGAGGGGGGCGTGCAGAGCAGGGCTGGAGAGGCTGCCTGGAGGAGGGGGTGTGGGGCAATGCTGGGGAGGCTGCCTGGAGGAGGGGGTGCGGGGCAGGGCTGGAGAGGCTGCCAGGAGGAGGGGATGCAGGGCTGGGGAGGCTGTCTGGAAGAGGGGGTGCAGAGCAGGGCTGGGGAGGCTTCCTGGAGGAGGGGGCACAGGGTAGGGCAGGGCTGAGCTGGGGGTCTGCTTGGAGGAGGGGGTGCAGGGCTGAACTAGGCTATGTGAGTCACATTTGCCACAGGACGGGAGGGCACCCTGGGCCAGCATGGACAGAGGCGGGCGGAACACAGTAGTCCTGAGCGGGAACAGCGTGGGCCCTGGCCAGCGGCCAGAGAGAGGATGACCAGCCAGGGAGGCCGAAGACGGCCGCTTTTGGGGCCAGGCCTGTGGGGAGGCGAGAGCCTTGGACTTTGAGCCCAGCCCACGCTGTTTGTCCCGGGTCCCTTATCTCTCGGGTTAGTTACTTTTCTCTCCCCCTCCCTCTATCCGAAAGTTGGATTTGCAAGAGTGGCCAGGCAAGACCTGGACTTGAGACTATCTGGGAGGGGAAGGACTGGTCCCCAGTGGGCCACACATGGGCCCCCCGCTCAATCCTGATTGGCACTGGACACTGGACGTGCCCATTTTCAGGGTGGGAACACTGAGGCCCGACCCCTGGACGGGGCCTGTGTGGGGCCAGGGAGTCCTTTCTTAGCAGCCCTTAGCGTCTGACGCCAGGCAGGCCAGGGCCACCCCGGGGACAGCTGTCTCCCTGAGCTCAGCTTTCCGAGTGCTATTCTTAGCCGGGCGAGTCGGGGCTGCTCTCCCAGGCAGGCAGAAGGGCAGCCTCTCCCTGGCACGACCCCTTCCTCCCGACCTCAGACAGGGAGCTGGGGACCCGGTTCCACCCAGTTTCACCCAGGTCTCACGTTTGAGGTCCCCATCTGGAGAGCGGGGGGCCTCACTCCCCCTGGAGAGGAAGTTTCTGGTACTTAGGCGGTGCCTAACGTGTGCGGGCCCCACGCCTGCCGCACTCCCCGTGAACGCCTCCGTGTGCCCCCACCTGCAGCCCCACTTCCCAGGCGAGGAGACAGAGGCGCCCCGGCGGGAGGGTGGGCTGCAGAGTCCCCGGGTCGGGGCAGCCCCGGCCTCAGTTTCCCCTGCGCCCCCGGGGGCGGTGCAGGCCGGGCGGGGGCTACCTTTGGAGGAGGCGGCGGCGGCCAGCGCGTGCATATAGGGGGTCTCCCAGCGCTCCATCACCGGCTTGCCCAGGATGCGCAGGTGCGTGTCCGCTGCGTCGTAGGCCGCGGGCGCCGCCCCCCACGCGGGGCTGCAGTTCTCGCCGGGCGCGAAGATGGGGGTCGCGCTGGGGGCGCTCATGCTGCAGGCTGGACGGCGACCCGACCTCGATCGCGCGCCGCCCGGGCCCGCTCCCTGCAGGGGCTTGTGGGCCGGGGGCGGGTCCAACAGGCCCGGGGGGCGGACCCGCGAGAGGACGCGCGCGCGCGGCTCCGGGAGCGGCCTCTAGCGGCGGCCACGCGAGAGGTGGCGGGAGTGGGGTCGGGGCCCCGGCCGCCCCCTCCCCAAGGAGCCTCGGTGCCCCCTCTGCGGAGCGGGCACCGCAGCCCCGCGCCCGGGGACGCGAACCTGCAGGCTGGGGACTGGAATCCCCGCCTTGCCGCTTACGCGCCATAGATTCCTCATCTGTCAGCACCGCAGAAAGGCCCCCTCCTCGCTGGGGTGTGAGAATCTGAGGATCTTCCAGGCGCTGTTGGAAGTGC | GGGTGGAGCCAAAGAATCACACCAGAAAAAGAACACAGGCCACTAGTTCCCATTTTGGAAGAAAAGCTGCCCCAGGGGCCACAGGCACCCAGCCGGCTCTCACAACAGCAGCCCAGGGCAACCACATAGAGCCCTTCTCAGATAGGCCGCCTCCACCAGGCAGAGGGAACAGCGAGACAAGCACTGCTGAACCAGCAAAGACAGCCAGGTGGAGGCAGCTGGAGGGAGGGGAACACGCAGGGCTTAGGCTGAACCACAGGGCACTGGGGAGCCATGGGAGGTTGTTGAGCTGGTGAGGGACTTTGATTTCCATTTTTTTTGTTTTTGTTTTGTTGAGATGGAGTCTCGGTCTGTTGCCCAGGCTGGAGTACAACGGTGCAATCTCGGCTCACAGCAACCTCCGCCTCCCATGTTCAAGTGATTCTCATGCCTCAGCCTCCCGAGTAGCTGGAATTACAGGCGCCCGCCACCACGCCTGGCTAACTTTTGTATTTTTAGTAGAGATGGGATTCTGCCATGTTGGCCAGGCTAGGCTCAAACTCCTGGGCTCAAGTGATCCACCCGCCTTGGCCTTCCGAAGTGCCGGGATCACAGGTGTGAGCCACCACGCCCAGCCTGATTTCCATTTTTTTTTTAAATTTTCTTTCTTTCTTTCTTTCTTTCTTTTTTCTTGAGACAGGGTCTGGCTCTGTTACCCAGGCTGGAGTGCAGTGGTTCGATCTGGGCTCACTGCAACCTCTGCCCCTGGGGCCCAAGCAATCCTCCTACCTCAGCCTCCCAAGTAGCTGGGAGTACAGGCACACGCCACCACGCCCAGCTAGTTTTTTGTATTTTTTTTTTTTAGGAAAGATGAGGTCTTGCTCTGTAGCCCAGGCTGGTCTTGAACTCCTAGGCTCAAGCAATCTGCCCACCTCGGCCTTCCACAGTGCTGGGATTATAGACCTGAGCCACTGCTCCTGGCAGCCACTGCGCCAGGCAAAGGACTTTGATTTCTAAATGAACCAGCACAGTCCAGCCCACCCAGGGGGTCAGGAAGGGACCCTCCCCAGGTAGCAAGGTGGCTCCAGCAGCCCCTTCCCACCCCCATCCAAGGTCACTTCCTGGAGACCCATGGGGAACTTCAGGTGGGCGCACCTCAAACATGATGGTGATGTCTGAGTACTTGGACTTCATCAGCTCCCCCCAGGAGGTGAGGTTGCAGTAGGTGAGGACGCCCCCCGGCTTCAGCAGGCGAAAGGCGTGGTTCTGTGGAAGGGGAGTGGCCAGTGGTCAGGACGGAGGTGGGGGTGTGGGCAGAGGGGCTTCCCCGAGGGCCTCCCGCATCCCAGCAAGTCAGAGAGAACCACCTTGATGAAGTTGAACTGGTGTGTGTGCCAGGTCTCCTCCGAGAGTGGGTACGTGTCGTACAGGATCCCTGCACGGAGAACAGAAGCCCACGCGGTCAGGGCCGGGCTCAGCGCCTCACCCAGCCTCACCCGGCTCATCCCCCAGCGGGTGGAGGTGCAGTGAGACGGGGCCGTGGGTAGAGGTGGGGCTCCCACACAGGCTTGAGAACCCCGAGATCGCCTCCAGGGCCCCTCCGTGAGCATGCCCATCCCCGGTGCTCCGCCATCCCACAGCCAGGCCCACACCCACTTGGGCTCTGTCCCCCCAGTGCACATCAGAGGGACCCCCACAAGCAAAGGAGGGGCTGCATTGGAGCTGGGGAGGCCCACCCTGTGATACGTCCCCTCACCCCTCACCATCAAAGTGACCGTCAGGCAGGGTGGGTGCCACATCCTCCCACAGGCCTTTCAAGGGGATGACCTTGCAGAGGGGAAAAGAAAAAGAGAGGACAGGGTAGAGAGGTCCCCAGGATCTCCCCACCTGCAGAAAGGGAGCGGCCAGGGGGACTCCCGAGAGAGAAGACCACCTCCTCCACCTCTGACAGCCCCAGGCCCCCAACCCCCAGGAAGCAGTGCCCTCACCCCAAGGAGTGGGGGTCCTGGAGGGCCTGCGGGCAGAGGGGCACCTTGTGTGTCTGCCGTGGGGCCCAGTCCCGGAGCCGCTGAAGACGCCGTCATTGCACTCGATGATCCAATGCTCATCAATGGGCGCCTCCTGCACCTTTGACGCTGCGATGGCCATGCCAAAGCCCACCTCCAGGACCCGGCCCCCTGGGCAGACACAGGGCGCCTGGCATCACTAGGTGGGGCGGGCTTAGGAGGCTGCCTGGAGGAGGGGCACAGGGCAGGGCAGGGCTGGGGAGACTGCCTGGAGGAGGGGGCGCAGGGCTGGGCTGGGGGTCTGCCTGGAGGGGGGCGTGCAGAGCAGGGCTGGAGAGGCTGCCTGGAGGAGGGGGTGTGGGGCAATGCTGGGGAGGCTGCCTGGAGGAGGGGGTGCGGGGCAGGGCTGGAGAGGCTGCCAGGAGGAGGGGATGCAGGGCTGGGGAGGCTGTCTGGAAGAGGGGGTGCAGAGCAGGGCTGGGGAGGCTTCCTGGAGGAGGGGGCACAGGGTAGGGCAGGGCTGAGCTGGGGGTCTGCTTGGAGGAGGGGGTGCAGGGCTGAACTAGGCTATGTGAGTCACATTTGCCACAGGACGGGAGGGCACCCTGGGCCAGCATGGACAGAGGCGGGCGGAACACAGTAGTCCTGAGCGGGAACAGCGTGGGCCCTGGCCAGCGGCCAGAGAGAGGATGACCAGCCAGGGAGGCCGAAGACGGCCGCTTTTGGGGCCAGGCCTGTGGGGAGGCGAGAGCCTTGGACTTTGAGCCCAGCCCACGCTGTTTGTCCCGGGTCCCTTATCTCTCGGGTTAGTTACTTTTCTCTCCCCCTCCCTCTATCCGAAAGTTGGATTTGCAAGAGTGGCCAGGCAAGACCTGGACTTGAGACTATCTGGGAGGGGAAGGACTGGTCCCCAGTGGGCCACACATGGGCCCCCCGCTCAATCCTGATTGGCACTGGACACTGGACGTGCCCATTTTCAGGGTGGGAACACTGAGGCCCGACCCCTGGACGGGGCCTGTGTGGGGCCAGGGAGTCCTTTCTTAGCAGCCCTTAGCGTCTGACGCCAGGCAGGCCAGGGCCACCCCGGGGACAGCTGTCTCCCTGAGCTCAGCTTTCCGAGTGCTATTCTTAGCCGGGCGAGTCGGGGCTGCTCTCCCAGGCAGGCAGAAGGGCAGCCTCTCCCTGGCACGACCCCTTCCTCCCGACCTCAGACAGGGAGCTGGGGACCCGGTTCCACCCAGTTTCACCCAGGTCTCACGTTTGAGGTCCCCATCTGGAGAGCGGGGGGCCTCACTCCCCCTGGAGAGGAAGTTTCTGGTACTTAGGCGGTGCCTAACGTGTGCGGGCCCCACGCCTGCCGCACTCCCCGTGAACGCCTCCGTGTGCCCCCACCTGCAGCCCCACTTCCCAGGCGAGGAGACAGAGGCGCCCCGGCGGGAGGGTGGGCTGCAGAGTCCCCGGGTCGGGGCAGCCCCGGCCTCAGTTTCCCCTGCGCCCCCGGGGGCGGTGCAGGCCGGGCGGGGGCTACCTTTGGAGGAGGCGGCGGCGGCCAGCGCGTGCATATAGGGGGTCTCCCAGCGCTCCATCACCGGCTTGCCCAGGATGCGCAGGTGCGTGTCCGCTGCGTCGTAGGCCGCGGGCGCCGCCCCCCACGCGGGGCTGCAGTTCTCGCCGGGCGCGAAGATGGGGGTCGCGCTGGGGGCGCTCATGCTGCAGGCTGGACGGCGACCCGACCTCGATCGCGCGCCGCCCGGGCCCGCTCCCTGCAGGGGCTTGTGGGCCGGGGGCGGGTCCAACAGGCCCGGGGGGCGGACCCGCGAGAGGACGCGCGCGCGCGGCTCCGGGAGCGGCCTCTAGCGGCGGCCACGCGAGAGGTGGCGGGAGTGGGGTCGGGGCCCCGGCCGCCCCCTCCCCAAGGAGCCTCGGTGCCCCCTCTGCGGAGCGGGCACCGCAGCCCCGCGCCCGGGGACGCGAACCTGCAGGCTGGGGACTGGAATCCCCGCCTTGCCGCTTACGCGCCATAGATTCCTCATCTGTCAGCACCGCAGAAAGGCCCCCTCCTCGCTGGGGTGTGAGAATCTGAGGATCTTCCAGGCGCTGTTGGAAGTGCN | pathogenic | 293,394 |
Clinical classification of chromosome 19, position 1400165, gene GAMT (guanidinoacetate N-methyltransferase): benign or pathogenic? Disease(s) if pathogenic? | benign | AGATGGAGTCTCGGTCTGTTGCCCAGGCTGGAGTACAACGGTGCAATCTCGGCTCACAGCAACCTCCGCCTCCCATGTTCAAGTGATTCTCATGCCTCAGCCTCCCGAGTAGCTGGAATTACAGGCGCCCGCCACCACGCCTGGCTAACTTTTGTATTTTTAGTAGAGATGGGATTCTGCCATGTTGGCCAGGCTAGGCTCAAACTCCTGGGCTCAAGTGATCCACCCGCCTTGGCCTTCCGAAGTGCCGGGATCACAGGTGTGAGCCACCACGCCCAGCCTGATTTCCATTTTTTTTTTAAATTTTCTTTCTTTCTTTCTTTCTTTCTTTTTTCTTGAGACAGGGTCTGGCTCTGTTACCCAGGCTGGAGTGCAGTGGTTCGATCTGGGCTCACTGCAACCTCTGCCCCTGGGGCCCAAGCAATCCTCCTACCTCAGCCTCCCAAGTAGCTGGGAGTACAGGCACACGCCACCACGCCCAGCTAGTTTTTTGTATTTTTTTTTTTTAGGAAAGATGAGGTCTTGCTCTGTAGCCCAGGCTGGTCTTGAACTCCTAGGCTCAAGCAATCTGCCCACCTCGGCCTTCCACAGTGCTGGGATTATAGACCTGAGCCACTGCTCCTGGCAGCCACTGCGCCAGGCAAAGGACTTTGATTTCTAAATGAACCAGCACAGTCCAGCCCACCCAGGGGGTCAGGAAGGGACCCTCCCCAGGTAGCAAGGTGGCTCCAGCAGCCCCTTCCCACCCCCATCCAAGGTCACTTCCTGGAGACCCATGGGGAACTTCAGGTGGGCGCACCTCAAACATGATGGTGATGTCTGAGTACTTGGACTTCATCAGCTCCCCCCAGGAGGTGAGGTTGCAGTAGGTGAGGACGCCCCCCGGCTTCAGCAGGCGAAAGGCGTGGTTCTGTGGAAGGGGAGTGGCCAGTGGTCAGGACGGAGGTGGGGGTGTGGGCAGAGGGGCTTCCCCGAGGGCCTCCCGCATCCCAGCAAGTCAGAGAGAACCACCTTGATGAAGTTGAACTGGTGTGTGTGCCAGGTCTCCTCCGAGAGTGGGTACGTGTCGTACAGGATCCCTGCACGGAGAACAGAAGCCCACGCGGTCAGGGCCGGGCTCAGCGCCTCACCCAGCCTCACCCGGCTCATCCCCCAGCGGGTGGAGGTGCAGTGAGACGGGGCCGTGGGTAGAGGTGGGGCTCCCACACAGGCTTGAGAACCCCGAGATCGCCTCCAGGGCCCCTCCGTGAGCATGCCCATCCCCGGTGCTCCGCCATCCCACAGCCAGGCCCACACCCACTTGGGCTCTGTCCCCCCAGTGCACATCAGAGGGACCCCCACAAGCAAAGGAGGGGCTGCATTGGAGCTGGGGAGGCCCACCCTGTGATACGTCCCCTCACCCCTCACCATCAAAGTGACCGTCAGGCAGGGTGGGTGCCACATCCTCCCACAGGCCTTTCAAGGGGATGACCTTGCAGAGGGGAAAAGAAAAAGAGAGGACAGGGTAGAGAGGTCCCCAGGATCTCCCCACCTGCAGAAAGGGAGCGGCCAGGGGGACTCCCGAGAGAGAAGACCACCTCCTCCACCTCTGACAGCCCCAGGCCCCCAACCCCCAGGAAGCAGTGCCCTCACCCCAAGGAGTGGGGGTCCTGGAGGGCCTGCGGGCAGAGGGGCACCTTGTGTGTCTGCCGTGGGGCCCAGTCCCGGAGCCGCTGGAAGACGCCGTCATTGCACTCGATGATCCAATGCTCATCAATGGGCGCCTCCTGCACCTTTGACGCTGCGATGGCCATGCCAAAGCCCACCTCCAGGACCCGGCCCCCTGGGCAGACACAGGGCGCCTGGCATCACTAGGTGGGGCGGGCTTAGGAGGCTGCCTGGAGGAGGGGCACAGGGCAGGGCAGGGCTGGGGAGACTGCCTGGAGGAGGGGGCGCAGGGCTGGGCTGGGGGTCTGCCTGGAGGGGGGCGTGCAGAGCAGGGCTGGAGAGGCTGCCTGGAGGAGGGGGTGTGGGGCAATGCTGGGGAGGCTGCCTGGAGGAGGGGGTGCGGGGCAGGGCTGGAGAGGCTGCCAGGAGGAGGGGATGCAGGGCTGGGGAGGCTGTCTGGAAGAGGGGGTGCAGAGCAGGGCTGGGGAGGCTTCCTGGAGGAGGGGGCACAGGGTAGGGCAGGGCTGAGCTGGGGGTCTGCTTGGAGGAGGGGGTGCAGGGCTGAACTAGGCTATGTGAGTCACATTTGCCACAGGACGGGAGGGCACCCTGGGCCAGCATGGACAGAGGCGGGCGGAACACAGTAGTCCTGAGCGGGAACAGCGTGGGCCCTGGCCAGCGGCCAGAGAGAGGATGACCAGCCAGGGAGGCCGAAGACGGCCGCTTTTGGGGCCAGGCCTGTGGGGAGGCGAGAGCCTTGGACTTTGAGCCCAGCCCACGCTGTTTGTCCCGGGTCCCTTATCTCTCGGGTTAGTTACTTTTCTCTCCCCCTCCCTCTATCCGAAAGTTGGATTTGCAAGAGTGGCCAGGCAAGACCTGGACTTGAGACTATCTGGGAGGGGAAGGACTGGTCCCCAGTGGGCCACACATGGGCCCCCCGCTCAATCCTGATTGGCACTGGACACTGGACGTGCCCATTTTCAGGGTGGGAACACTGAGGCCCGACCCCTGGACGGGGCCTGTGTGGGGCCAGGGAGTCCTTTCTTAGCAGCCCTTAGCGTCTGACGCCAGGCAGGCCAGGGCCACCCCGGGGACAGCTGTCTCCCTGAGCTCAGCTTTCCGAGTGCTATTCTTAGCCGGGCGAGTCGGGGCTGCTCTCCCAGGCAGGCAGAAGGGCAGCCTCTCCCTGGCACGACCCCTTCCTCCCGACCTCAGACAGGGAGCTGGGGACCCGGTTCCACCCAGTTTCACCCAGGTCTCACGTTTGAGGTCCCCATCTGGAGAGCGGGGGGCCTCACTCCCCCTGGAGAGGAAGTTTCTGGTACTTAGGCGGTGCCTAACGTGTGCGGGCCCCACGCCTGCCGCACTCCCCGTGAACGCCTCCGTGTGCCCCCACCTGCAGCCCCACTTCCCAGGCGAGGAGACAGAGGCGCCCCGGCGGGAGGGTGGGCTGCAGAGTCCCCGGGTCGGGGCAGCCCCGGCCTCAGTTTCCCCTGCGCCCCCGGGGGCGGTGCAGGCCGGGCGGGGGCTACCTTTGGAGGAGGCGGCGGCGGCCAGCGCGTGCATATAGGGGGTCTCCCAGCGCTCCATCACCGGCTTGCCCAGGATGCGCAGGTGCGTGTCCGCTGCGTCGTAGGCCGCGGGCGCCGCCCCCCACGCGGGGCTGCAGTTCTCGCCGGGCGCGAAGATGGGGGTCGCGCTGGGGGCGCTCATGCTGCAGGCTGGACGGCGACCCGACCTCGATCGCGCGCCGCCCGGGCCCGCTCCCTGCAGGGGCTTGTGGGCCGGGGGCGGGTCCAACAGGCCCGGGGGGCGGACCCGCGAGAGGACGCGCGCGCGCGGCTCCGGGAGCGGCCTCTAGCGGCGGCCACGCGAGAGGTGGCGGGAGTGGGGTCGGGGCCCCGGCCGCCCCCTCCCCAAGGAGCCTCGGTGCCCCCTCTGCGGAGCGGGCACCGCAGCCCCGCGCCCGGGGACGCGAACCTGCAGGCTGGGGACTGGAATCCCCGCCTTGCCGCTTACGCGCCATAGATTCCTCATCTGTCAGCACCGCAGAAAGGCCCCCTCCTCGCTGGGGTGTGAGAATCTGAGGATCTTCCAGGCGCTGTTGGAAGTGCTTTAAGTGTTTAAAATCATTTAATCTTCAGAAGATGCTACAGTGAGTTCTGTCTTTTTTTAATAGAGACGGGGTCTTGCTATGTTGCCCAGGTTGGTCTCAAACTCCTGGGCGCAAGCGATCCTCCCGCTTCAGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACCGCGCCCGCCAGGTTCTATGATGACTGTCGTTTTTCCTTCCTTCCTTCCTTCCTTTCTTTTTTGAAAGCAAGTTTATTAAGGAATAAAAATGAATGGCTACTCCATAGAGCAGCCGACTGTCATTTTACAGATGTGGAAACTGAGGCTTTGAGAAGCAAAGCCGGT | AGATGGAGTCTCGGTCTGTTGCCCAGGCTGGAGTACAACGGTGCAATCTCGGCTCACAGCAACCTCCGCCTCCCATGTTCAAGTGATTCTCATGCCTCAGCCTCCCGAGTAGCTGGAATTACAGGCGCCCGCCACCACGCCTGGCTAACTTTTGTATTTTTAGTAGAGATGGGATTCTGCCATGTTGGCCAGGCTAGGCTCAAACTCCTGGGCTCAAGTGATCCACCCGCCTTGGCCTTCCGAAGTGCCGGGATCACAGGTGTGAGCCACCACGCCCAGCCTGATTTCCATTTTTTTTTTAAATTTTCTTTCTTTCTTTCTTTCTTTCTTTTTTCTTGAGACAGGGTCTGGCTCTGTTACCCAGGCTGGAGTGCAGTGGTTCGATCTGGGCTCACTGCAACCTCTGCCCCTGGGGCCCAAGCAATCCTCCTACCTCAGCCTCCCAAGTAGCTGGGAGTACAGGCACACGCCACCACGCCCAGCTAGTTTTTTGTATTTTTTTTTTTTAGGAAAGATGAGGTCTTGCTCTGTAGCCCAGGCTGGTCTTGAACTCCTAGGCTCAAGCAATCTGCCCACCTCGGCCTTCCACAGTGCTGGGATTATAGACCTGAGCCACTGCTCCTGGCAGCCACTGCGCCAGGCAAAGGACTTTGATTTCTAAATGAACCAGCACAGTCCAGCCCACCCAGGGGGTCAGGAAGGGACCCTCCCCAGGTAGCAAGGTGGCTCCAGCAGCCCCTTCCCACCCCCATCCAAGGTCACTTCCTGGAGACCCATGGGGAACTTCAGGTGGGCGCACCTCAAACATGATGGTGATGTCTGAGTACTTGGACTTCATCAGCTCCCCCCAGGAGGTGAGGTTGCAGTAGGTGAGGACGCCCCCCGGCTTCAGCAGGCGAAAGGCGTGGTTCTGTGGAAGGGGAGTGGCCAGTGGTCAGGACGGAGGTGGGGGTGTGGGCAGAGGGGCTTCCCCGAGGGCCTCCCGCATCCCAGCAAGTCAGAGAGAACCACCTTGATGAAGTTGAACTGGTGTGTGTGCCAGGTCTCCTCCGAGAGTGGGTACGTGTCGTACAGGATCCCTGCACGGAGAACAGAAGCCCACGCGGTCAGGGCCGGGCTCAGCGCCTCACCCAGCCTCACCCGGCTCATCCCCCAGCGGGTGGAGGTGCAGTGAGACGGGGCCGTGGGTAGAGGTGGGGCTCCCACACAGGCTTGAGAACCCCGAGATCGCCTCCAGGGCCCCTCCGTGAGCATGCCCATCCCCGGTGCTCCGCCATCCCACAGCCAGGCCCACACCCACTTGGGCTCTGTCCCCCCAGTGCACATCAGAGGGACCCCCACAAGCAAAGGAGGGGCTGCATTGGAGCTGGGGAGGCCCACCCTGTGATACGTCCCCTCACCCCTCACCATCAAAGTGACCGTCAGGCAGGGTGGGTGCCACATCCTCCCACAGGCCTTTCAAGGGGATGACCTTGCAGAGGGGAAAAGAAAAAGAGAGGACAGGGTAGAGAGGTCCCCAGGATCTCCCCACCTGCAGAAAGGGAGCGGCCAGGGGGACTCCCGAGAGAGAAGACCACCTCCTCCACCTCTGACAGCCCCAGGCCCCCAACCCCCAGGAAGCAGTGCCCTCACCCCAAGGAGTGGGGGTCCTGGAGGGCCTGCGGGCAGAGGGGCACCTTGTGTGTCTGCCGTGGGGCCCAGTCCCGGAGCCGCTGGAAGACGCCGTCATTGCACTCGATGATCCAATGCTCATCAATGGGCGCCTCCTGCACCTTTGACGCTGCGATGGCCATGCCAAAGCCCACCTCCAGGACCCGGCCCCCTGGGCAGACACAGGGCGCCTGGCATCACTAGGTGGGGCGGGCTTAGGAGGCTGCCTGGAGGAGGGGCACAGGGCAGGGCAGGGCTGGGGAGACTGCCTGGAGGAGGGGGCGCAGGGCTGGGCTGGGGGTCTGCCTGGAGGGGGGCGTGCAGAGCAGGGCTGGAGAGGCTGCCTGGAGGAGGGGGTGTGGGGCAATGCTGGGGAGGCTGCCTGGAGGAGGGGGTGCGGGGCTGGGGAGGCTGTCTGGAAGAGGGGGTGCAGAGCAGGGCTGGGGAGGCTTCCTGGAGGAGGGGGCACAGGGTAGGGCAGGGCTGAGCTGGGGGTCTGCTTGGAGGAGGGGGTGCAGGGCTGAACTAGGCTATGTGAGTCACATTTGCCACAGGACGGGAGGGCACCCTGGGCCAGCATGGACAGAGGCGGGCGGAACACAGTAGTCCTGAGCGGGAACAGCGTGGGCCCTGGCCAGCGGCCAGAGAGAGGATGACCAGCCAGGGAGGCCGAAGACGGCCGCTTTTGGGGCCAGGCCTGTGGGGAGGCGAGAGCCTTGGACTTTGAGCCCAGCCCACGCTGTTTGTCCCGGGTCCCTTATCTCTCGGGTTAGTTACTTTTCTCTCCCCCTCCCTCTATCCGAAAGTTGGATTTGCAAGAGTGGCCAGGCAAGACCTGGACTTGAGACTATCTGGGAGGGGAAGGACTGGTCCCCAGTGGGCCACACATGGGCCCCCCGCTCAATCCTGATTGGCACTGGACACTGGACGTGCCCATTTTCAGGGTGGGAACACTGAGGCCCGACCCCTGGACGGGGCCTGTGTGGGGCCAGGGAGTCCTTTCTTAGCAGCCCTTAGCGTCTGACGCCAGGCAGGCCAGGGCCACCCCGGGGACAGCTGTCTCCCTGAGCTCAGCTTTCCGAGTGCTATTCTTAGCCGGGCGAGTCGGGGCTGCTCTCCCAGGCAGGCAGAAGGGCAGCCTCTCCCTGGCACGACCCCTTCCTCCCGACCTCAGACAGGGAGCTGGGGACCCGGTTCCACCCAGTTTCACCCAGGTCTCACGTTTGAGGTCCCCATCTGGAGAGCGGGGGGCCTCACTCCCCCTGGAGAGGAAGTTTCTGGTACTTAGGCGGTGCCTAACGTGTGCGGGCCCCACGCCTGCCGCACTCCCCGTGAACGCCTCCGTGTGCCCCCACCTGCAGCCCCACTTCCCAGGCGAGGAGACAGAGGCGCCCCGGCGGGAGGGTGGGCTGCAGAGTCCCCGGGTCGGGGCAGCCCCGGCCTCAGTTTCCCCTGCGCCCCCGGGGGCGGTGCAGGCCGGGCGGGGGCTACCTTTGGAGGAGGCGGCGGCGGCCAGCGCGTGCATATAGGGGGTCTCCCAGCGCTCCATCACCGGCTTGCCCAGGATGCGCAGGTGCGTGTCCGCTGCGTCGTAGGCCGCGGGCGCCGCCCCCCACGCGGGGCTGCAGTTCTCGCCGGGCGCGAAGATGGGGGTCGCGCTGGGGGCGCTCATGCTGCAGGCTGGACGGCGACCCGACCTCGATCGCGCGCCGCCCGGGCCCGCTCCCTGCAGGGGCTTGTGGGCCGGGGGCGGGTCCAACAGGCCCGGGGGGCGGACCCGCGAGAGGACGCGCGCGCGCGGCTCCGGGAGCGGCCTCTAGCGGCGGCCACGCGAGAGGTGGCGGGAGTGGGGTCGGGGCCCCGGCCGCCCCCTCCCCAAGGAGCCTCGGTGCCCCCTCTGCGGAGCGGGCACCGCAGCCCCGCGCCCGGGGACGCGAACCTGCAGGCTGGGGACTGGAATCCCCGCCTTGCCGCTTACGCGCCATAGATTCCTCATCTGTCAGCACCGCAGAAAGGCCCCCTCCTCGCTGGGGTGTGAGAATCTGAGGATCTTCCAGGCGCTGTTGGAAGTGCTTTAAGTGTTTAAAATCATTTAATCTTCAGAAGATGCTACAGTGAGTTCTGTCTTTTTTTAATAGAGACGGGGTCTTGCTATGTTGCCCAGGTTGGTCTCAAACTCCTGGGCGCAAGCGATCCTCCCGCTTCAGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACCGCGCCCGCCAGGTTCTATGATGACTGTCGTTTTTCCTTCCTTCCTTCCTTCCTTTCTTTTTTGAAAGCAAGTTTATTAAGGAATAAAAATGAATGGCTACTCCATAGAGCAGCCGACTGTCATTTTACAGATGTGGAAACTGAGGCTTTGAGAAGCAAAGCCGGTNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN | benign | 293,413 |
Chromosome 19, position 1401331, gene GAMT: benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Cerebral_creatine_deficiency_syndrome', 'Deficiency_of_guanidinoacetate_methyltransferase'] | TGCAGTGAGACGGGGCCGTGGGTAGAGGTGGGGCTCCCACACAGGCTTGAGAACCCCGAGATCGCCTCCAGGGCCCCTCCGTGAGCATGCCCATCCCCGGTGCTCCGCCATCCCACAGCCAGGCCCACACCCACTTGGGCTCTGTCCCCCCAGTGCACATCAGAGGGACCCCCACAAGCAAAGGAGGGGCTGCATTGGAGCTGGGGAGGCCCACCCTGTGATACGTCCCCTCACCCCTCACCATCAAAGTGACCGTCAGGCAGGGTGGGTGCCACATCCTCCCACAGGCCTTTCAAGGGGATGACCTTGCAGAGGGGAAAAGAAAAAGAGAGGACAGGGTAGAGAGGTCCCCAGGATCTCCCCACCTGCAGAAAGGGAGCGGCCAGGGGGACTCCCGAGAGAGAAGACCACCTCCTCCACCTCTGACAGCCCCAGGCCCCCAACCCCCAGGAAGCAGTGCCCTCACCCCAAGGAGTGGGGGTCCTGGAGGGCCTGCGGGCAGAGGGGCACCTTGTGTGTCTGCCGTGGGGCCCAGTCCCGGAGCCGCTGGAAGACGCCGTCATTGCACTCGATGATCCAATGCTCATCAATGGGCGCCTCCTGCACCTTTGACGCTGCGATGGCCATGCCAAAGCCCACCTCCAGGACCCGGCCCCCTGGGCAGACACAGGGCGCCTGGCATCACTAGGTGGGGCGGGCTTAGGAGGCTGCCTGGAGGAGGGGCACAGGGCAGGGCAGGGCTGGGGAGACTGCCTGGAGGAGGGGGCGCAGGGCTGGGCTGGGGGTCTGCCTGGAGGGGGGCGTGCAGAGCAGGGCTGGAGAGGCTGCCTGGAGGAGGGGGTGTGGGGCAATGCTGGGGAGGCTGCCTGGAGGAGGGGGTGCGGGGCAGGGCTGGAGAGGCTGCCAGGAGGAGGGGATGCAGGGCTGGGGAGGCTGTCTGGAAGAGGGGGTGCAGAGCAGGGCTGGGGAGGCTTCCTGGAGGAGGGGGCACAGGGTAGGGCAGGGCTGAGCTGGGGGTCTGCTTGGAGGAGGGGGTGCAGGGCTGAACTAGGCTATGTGAGTCACATTTGCCACAGGACGGGAGGGCACCCTGGGCCAGCATGGACAGAGGCGGGCGGAACACAGTAGTCCTGAGCGGGAACAGCGTGGGCCCTGGCCAGCGGCCAGAGAGAGGATGACCAGCCAGGGAGGCCGAAGACGGCCGCTTTTGGGGCCAGGCCTGTGGGGAGGCGAGAGCCTTGGACTTTGAGCCCAGCCCACGCTGTTTGTCCCGGGTCCCTTATCTCTCGGGTTAGTTACTTTTCTCTCCCCCTCCCTCTATCCGAAAGTTGGATTTGCAAGAGTGGCCAGGCAAGACCTGGACTTGAGACTATCTGGGAGGGGAAGGACTGGTCCCCAGTGGGCCACACATGGGCCCCCCGCTCAATCCTGATTGGCACTGGACACTGGACGTGCCCATTTTCAGGGTGGGAACACTGAGGCCCGACCCCTGGACGGGGCCTGTGTGGGGCCAGGGAGTCCTTTCTTAGCAGCCCTTAGCGTCTGACGCCAGGCAGGCCAGGGCCACCCCGGGGACAGCTGTCTCCCTGAGCTCAGCTTTCCGAGTGCTATTCTTAGCCGGGCGAGTCGGGGCTGCTCTCCCAGGCAGGCAGAAGGGCAGCCTCTCCCTGGCACGACCCCTTCCTCCCGACCTCAGACAGGGAGCTGGGGACCCGGTTCCACCCAGTTTCACCCAGGTCTCACGTTTGAGGTCCCCATCTGGAGAGCGGGGGGCCTCACTCCCCCTGGAGAGGAAGTTTCTGGTACTTAGGCGGTGCCTAACGTGTGCGGGCCCCACGCCTGCCGCACTCCCCGTGAACGCCTCCGTGTGCCCCCACCTGCAGCCCCACTTCCCAGGCGAGGAGACAGAGGCGCCCCGGCGGGAGGGTGGGCTGCAGAGTCCCCGGGTCGGGGCAGCCCCGGCCTCAGTTTCCCCTGCGCCCCCGGGGGCGGTGCAGGCCGGGCGGGGGCTACCTTTGGAGGAGGCGGCGGCGGCCAGCGCGTGCATATAGGGGGTCTCCCAGCGCTCCATCACCGGCTTGCCCAGGATGCGCAGGTGCGTGTCCGCTGCGTCGTAGGCCGCGGGCGCCGCCCCCCACGCGGGGCTGCAGTTCTCGCCGGGCGCGAAGATGGGGGTCGCGCTGGGGGCGCTCATGCTGCAGGCTGGACGGCGACCCGACCTCGATCGCGCGCCGCCCGGGCCCGCTCCCTGCAGGGGCTTGTGGGCCGGGGGCGGGTCCAACAGGCCCGGGGGGCGGACCCGCGAGAGGACGCGCGCGCGCGGCTCCGGGAGCGGCCTCTAGCGGCGGCCACGCGAGAGGTGGCGGGAGTGGGGTCGGGGCCCCGGCCGCCCCCTCCCCAAGGAGCCTCGGTGCCCCCTCTGCGGAGCGGGCACCGCAGCCCCGCGCCCGGGGACGCGAACCTGCAGGCTGGGGACTGGAATCCCCGCCTTGCCGCTTACGCGCCATAGATTCCTCATCTGTCAGCACCGCAGAAAGGCCCCCTCCTCGCTGGGGTGTGAGAATCTGAGGATCTTCCAGGCGCTGTTGGAAGTGCTTTAAGTGTTTAAAATCATTTAATCTTCAGAAGATGCTACAGTGAGTTCTGTCTTTTTTTAATAGAGACGGGGTCTTGCTATGTTGCCCAGGTTGGTCTCAAACTCCTGGGCGCAAGCGATCCTCCCGCTTCAGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACCGCGCCCGCCAGGTTCTATGATGACTGTCGTTTTTCCTTCCTTCCTTCCTTCCTTTCTTTTTTGAAAGCAAGTTTATTAAGGAATAAAAATGAATGGCTACTCCATAGAGCAGCCGACTGTCATTTTACAGATGTGGAAACTGAGGCTTTGAGAAGCAAAGCCGGTGGTCTGGTGGCCACGAGGGTGGGGACCCAGCATTAGAGCTCTGATGCCCCCCTTTCATGAGCCCATGTCACACCCCCATAGGCTGGGGGTCATCTGAGACCCCGGGTCCCTAATGGGGGATTCCGCCCAAAGACGCCTCCAGTTCTGGAGACCAGGACTCAATCCCAGCAGTGCCCTTTCCTCCGGCGGCCCTGCAGCTGGGGTGTGCGGGGGTGGAATTAGGCCTCCCCCAGCCCAGGGTAGCCCCTTAGGGTCAAGCACACCCCCCGCCTGTTTCCTGGGGGCCCCCAAGCCCGCTGCGGTGGCGTCCTGGCTCTGATAGCCGGTTTCCTTCCCCCTCTGAACGTGGGGCCACAGTCATGAGCCCTGAGCACTGCCTGCCTGCCTGCCTGCCTGCCTGCCGTGCGTTCTGCACGGGTTAACAGATGCAGTTATTATGCCCATTTAACACGAGGGAAACTGAGGCCCAGAGAGGTTGAGGTTCACAGGTTGCAGCAGGGCCACGGTGTGAACGCAGGCAGCCTCGGAAACAGCTCCCGCGCGCGGCCTTCCCTGCGCCACCTTGTCTGGGTAGCTGCCTGCCCCATCACTGCCTGCTCAACGCCTCCACATGCCCCTGCCACCTCTTGCACAGCTCCTTAGCCCCGGGCCTTGGCACACGCTCTTCCCCTTGCCCAGACAGCCTCTCTCCTGGTCAGGCCGCTTTCTCGTTCTGTCTCAAGCTGAGCCCACGTGTCCTCTAGGAGACACCCCCATTCTGCCCCAGGACAGGCATGTCCTGGTCAGAAGCTGTTTTGTTTGTTTTTGTTTTTCTGAGACAGAGTCTCACTCTGTTGCTCAGGTTGGAGTGCAGTGGCATGATTTTGGCTCAGTGCAACCTCTGCCTCCCGGGTTCAAGCGATTCTCCTACCTCAGCCTCCTGGGTAGCTGTGATGACAGGCGCCCGCCACCAAGCCCGGCTAATTTTTTTTTTTTTTTTTTTTTTTTGTATTTTTAGTAGAAACGGGGTTTCACCATGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATTCACCCGCCTCGGCCTCCTAAAGTGCTGGGATTGCAAGGTGTGAGCCACCGCACCCACCCGGCCAGAAGCTGTTTTCTCTCTCTTTGGTAGTTCACTAACGGAAGGTATTTC | TGCAGTGAGACGGGGCCGTGGGTAGAGGTGGGGCTCCCACACAGGCTTGAGAACCCCGAGATCGCCTCCAGGGCCCCTCCGTGAGCATGCCCATCCCCGGTGCTCCGCCATCCCACAGCCAGGCCCACACCCACTTGGGCTCTGTCCCCCCAGTGCACATCAGAGGGACCCCCACAAGCAAAGGAGGGGCTGCATTGGAGCTGGGGAGGCCCACCCTGTGATACGTCCCCTCACCCCTCACCATCAAAGTGACCGTCAGGCAGGGTGGGTGCCACATCCTCCCACAGGCCTTTCAAGGGGATGACCTTGCAGAGGGGAAAAGAAAAAGAGAGGACAGGGTAGAGAGGTCCCCAGGATCTCCCCACCTGCAGAAAGGGAGCGGCCAGGGGGACTCCCGAGAGAGAAGACCACCTCCTCCACCTCTGACAGCCCCAGGCCCCCAACCCCCAGGAAGCAGTGCCCTCACCCCAAGGAGTGGGGGTCCTGGAGGGCCTGCGGGCAGAGGGGCACCTTGTGTGTCTGCCGTGGGGCCCAGTCCCGGAGCCGCTGGAAGACGCCGTCATTGCACTCGATGATCCAATGCTCATCAATGGGCGCCTCCTGCACCTTTGACGCTGCGATGGCCATGCCAAAGCCCACCTCCAGGACCCGGCCCCCTGGGCAGACACAGGGCGCCTGGCATCACTAGGTGGGGCGGGCTTAGGAGGCTGCCTGGAGGAGGGGCACAGGGCAGGGCAGGGCTGGGGAGACTGCCTGGAGGAGGGGGCGCAGGGCTGGGCTGGGGGTCTGCCTGGAGGGGGGCGTGCAGAGCAGGGCTGGAGAGGCTGCCTGGAGGAGGGGGTGTGGGGCAATGCTGGGGAGGCTGCCTGGAGGAGGGGGTGCGGGGCAGGGCTGGAGAGGCTGCCAGGAGGAGGGGATGCAGGGCTGGGGAGGCTGTCTGGAAGAGGGGGTGCAGAGCAGGGCTGGGGAGGCTTCCTGGAGGAGGGGGCACAGGGTAGGGCAGGGCTGAGCTGGGGGTCTGCTTGGAGGAGGGGGTGCAGGGCTGAACTAGGCTATGTGAGTCACATTTGCCACAGGACGGGAGGGCACCCTGGGCCAGCATGGACAGAGGCGGGCGGAACACAGTAGTCCTGAGCGGGAACAGCGTGGGCCCTGGCCAGCGGCCAGAGAGAGGATGACCAGCCAGGGAGGCCGAAGACGGCCGCTTTTGGGGCCAGGCCTGTGGGGAGGCGAGAGCCTTGGACTTTGAGCCCAGCCCACGCTGTTTGTCCCGGGTCCCTTATCTCTCGGGTTAGTTACTTTTCTCTCCCCCTCCCTCTATCCGAAAGTTGGATTTGCAAGAGTGGCCAGGCAAGACCTGGACTTGAGACTATCTGGGAGGGGAAGGACTGGTCCCCAGTGGGCCACACATGGGCCCCCCGCTCAATCCTGATTGGCACTGGACACTGGACGTGCCCATTTTCAGGGTGGGAACACTGAGGCCCGACCCCTGGACGGGGCCTGTGTGGGGCCAGGGAGTCCTTTCTTAGCAGCCCTTAGCGTCTGACGCCAGGCAGGCCAGGGCCACCCCGGGGACAGCTGTCTCCCTGAGCTCAGCTTTCCGAGTGCTATTCTTAGCCGGGCGAGTCGGGGCTGCTCTCCCAGGCAGGCAGAAGGGCAGCCTCTCCCTGGCACGACCCCTTCCTCCCGACCTCAGACAGGGAGCTGGGGACCCGGTTCCACCCAGTTTCACCCAGGTCTCACGTTTGAGGTCCCCATCTGGAGAGCGGGGGGCCTCACTCCCCCTGGAGAGGAAGTTTCTGGTACTTAGGCGGTGCCTAACGTGTGCGGGCCCCACGCCTGCCGCACTCCCCGTGAACGCCTCCGTGTGCCCCCACCTGCAGCCCCACTTCCCAGGCGAGGAGACAGAGGCGCCCCGGCGGGAGGGTGGGCTGCAGAGTCCCCGGGTCGGGGCAGCCCCGGCCTCAGTTTCCCCTGCGCCCCCGGGGGCGGTGCAGGCCGGGCGGGGGCTACCTTTGGAGGAGGCGGCGGCGGCCAGCGCGTGCATATGGGGGTCTCCCAGCGCTCCATCACCGGCTTGCCCAGGATGCGCAGGTGCGTGTCCGCTGCGTCGTAGGCCGCGGGCGCCGCCCCCCACGCGGGGCTGCAGTTCTCGCCGGGCGCGAAGATGGGGGTCGCGCTGGGGGCGCTCATGCTGCAGGCTGGACGGCGACCCGACCTCGATCGCGCGCCGCCCGGGCCCGCTCCCTGCAGGGGCTTGTGGGCCGGGGGCGGGTCCAACAGGCCCGGGGGGCGGACCCGCGAGAGGACGCGCGCGCGCGGCTCCGGGAGCGGCCTCTAGCGGCGGCCACGCGAGAGGTGGCGGGAGTGGGGTCGGGGCCCCGGCCGCCCCCTCCCCAAGGAGCCTCGGTGCCCCCTCTGCGGAGCGGGCACCGCAGCCCCGCGCCCGGGGACGCGAACCTGCAGGCTGGGGACTGGAATCCCCGCCTTGCCGCTTACGCGCCATAGATTCCTCATCTGTCAGCACCGCAGAAAGGCCCCCTCCTCGCTGGGGTGTGAGAATCTGAGGATCTTCCAGGCGCTGTTGGAAGTGCTTTAAGTGTTTAAAATCATTTAATCTTCAGAAGATGCTACAGTGAGTTCTGTCTTTTTTTAATAGAGACGGGGTCTTGCTATGTTGCCCAGGTTGGTCTCAAACTCCTGGGCGCAAGCGATCCTCCCGCTTCAGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACCGCGCCCGCCAGGTTCTATGATGACTGTCGTTTTTCCTTCCTTCCTTCCTTCCTTTCTTTTTTGAAAGCAAGTTTATTAAGGAATAAAAATGAATGGCTACTCCATAGAGCAGCCGACTGTCATTTTACAGATGTGGAAACTGAGGCTTTGAGAAGCAAAGCCGGTGGTCTGGTGGCCACGAGGGTGGGGACCCAGCATTAGAGCTCTGATGCCCCCCTTTCATGAGCCCATGTCACACCCCCATAGGCTGGGGGTCATCTGAGACCCCGGGTCCCTAATGGGGGATTCCGCCCAAAGACGCCTCCAGTTCTGGAGACCAGGACTCAATCCCAGCAGTGCCCTTTCCTCCGGCGGCCCTGCAGCTGGGGTGTGCGGGGGTGGAATTAGGCCTCCCCCAGCCCAGGGTAGCCCCTTAGGGTCAAGCACACCCCCCGCCTGTTTCCTGGGGGCCCCCAAGCCCGCTGCGGTGGCGTCCTGGCTCTGATAGCCGGTTTCCTTCCCCCTCTGAACGTGGGGCCACAGTCATGAGCCCTGAGCACTGCCTGCCTGCCTGCCTGCCTGCCTGCCGTGCGTTCTGCACGGGTTAACAGATGCAGTTATTATGCCCATTTAACACGAGGGAAACTGAGGCCCAGAGAGGTTGAGGTTCACAGGTTGCAGCAGGGCCACGGTGTGAACGCAGGCAGCCTCGGAAACAGCTCCCGCGCGCGGCCTTCCCTGCGCCACCTTGTCTGGGTAGCTGCCTGCCCCATCACTGCCTGCTCAACGCCTCCACATGCCCCTGCCACCTCTTGCACAGCTCCTTAGCCCCGGGCCTTGGCACACGCTCTTCCCCTTGCCCAGACAGCCTCTCTCCTGGTCAGGCCGCTTTCTCGTTCTGTCTCAAGCTGAGCCCACGTGTCCTCTAGGAGACACCCCCATTCTGCCCCAGGACAGGCATGTCCTGGTCAGAAGCTGTTTTGTTTGTTTTTGTTTTTCTGAGACAGAGTCTCACTCTGTTGCTCAGGTTGGAGTGCAGTGGCATGATTTTGGCTCAGTGCAACCTCTGCCTCCCGGGTTCAAGCGATTCTCCTACCTCAGCCTCCTGGGTAGCTGTGATGACAGGCGCCCGCCACCAAGCCCGGCTAATTTTTTTTTTTTTTTTTTTTTTTTGTATTTTTAGTAGAAACGGGGTTTCACCATGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATTCACCCGCCTCGGCCTCCTAAAGTGCTGGGATTGCAAGGTGTGAGCCACCGCACCCACCCGGCCAGAAGCTGTTTTCTCTCTCTTTGGTAGTTCACTAACGGAAGGTATTTCN | pathogenic | 293,423 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 19, position 1401385, gene GAMT. What disease(s) is it linked to if pathogenic? | pathogenic; ['Cerebral_creatine_deficiency_syndrome', 'Deficiency_of_guanidinoacetate_methyltransferase'] | CCCGAGATCGCCTCCAGGGCCCCTCCGTGAGCATGCCCATCCCCGGTGCTCCGCCATCCCACAGCCAGGCCCACACCCACTTGGGCTCTGTCCCCCCAGTGCACATCAGAGGGACCCCCACAAGCAAAGGAGGGGCTGCATTGGAGCTGGGGAGGCCCACCCTGTGATACGTCCCCTCACCCCTCACCATCAAAGTGACCGTCAGGCAGGGTGGGTGCCACATCCTCCCACAGGCCTTTCAAGGGGATGACCTTGCAGAGGGGAAAAGAAAAAGAGAGGACAGGGTAGAGAGGTCCCCAGGATCTCCCCACCTGCAGAAAGGGAGCGGCCAGGGGGACTCCCGAGAGAGAAGACCACCTCCTCCACCTCTGACAGCCCCAGGCCCCCAACCCCCAGGAAGCAGTGCCCTCACCCCAAGGAGTGGGGGTCCTGGAGGGCCTGCGGGCAGAGGGGCACCTTGTGTGTCTGCCGTGGGGCCCAGTCCCGGAGCCGCTGGAAGACGCCGTCATTGCACTCGATGATCCAATGCTCATCAATGGGCGCCTCCTGCACCTTTGACGCTGCGATGGCCATGCCAAAGCCCACCTCCAGGACCCGGCCCCCTGGGCAGACACAGGGCGCCTGGCATCACTAGGTGGGGCGGGCTTAGGAGGCTGCCTGGAGGAGGGGCACAGGGCAGGGCAGGGCTGGGGAGACTGCCTGGAGGAGGGGGCGCAGGGCTGGGCTGGGGGTCTGCCTGGAGGGGGGCGTGCAGAGCAGGGCTGGAGAGGCTGCCTGGAGGAGGGGGTGTGGGGCAATGCTGGGGAGGCTGCCTGGAGGAGGGGGTGCGGGGCAGGGCTGGAGAGGCTGCCAGGAGGAGGGGATGCAGGGCTGGGGAGGCTGTCTGGAAGAGGGGGTGCAGAGCAGGGCTGGGGAGGCTTCCTGGAGGAGGGGGCACAGGGTAGGGCAGGGCTGAGCTGGGGGTCTGCTTGGAGGAGGGGGTGCAGGGCTGAACTAGGCTATGTGAGTCACATTTGCCACAGGACGGGAGGGCACCCTGGGCCAGCATGGACAGAGGCGGGCGGAACACAGTAGTCCTGAGCGGGAACAGCGTGGGCCCTGGCCAGCGGCCAGAGAGAGGATGACCAGCCAGGGAGGCCGAAGACGGCCGCTTTTGGGGCCAGGCCTGTGGGGAGGCGAGAGCCTTGGACTTTGAGCCCAGCCCACGCTGTTTGTCCCGGGTCCCTTATCTCTCGGGTTAGTTACTTTTCTCTCCCCCTCCCTCTATCCGAAAGTTGGATTTGCAAGAGTGGCCAGGCAAGACCTGGACTTGAGACTATCTGGGAGGGGAAGGACTGGTCCCCAGTGGGCCACACATGGGCCCCCCGCTCAATCCTGATTGGCACTGGACACTGGACGTGCCCATTTTCAGGGTGGGAACACTGAGGCCCGACCCCTGGACGGGGCCTGTGTGGGGCCAGGGAGTCCTTTCTTAGCAGCCCTTAGCGTCTGACGCCAGGCAGGCCAGGGCCACCCCGGGGACAGCTGTCTCCCTGAGCTCAGCTTTCCGAGTGCTATTCTTAGCCGGGCGAGTCGGGGCTGCTCTCCCAGGCAGGCAGAAGGGCAGCCTCTCCCTGGCACGACCCCTTCCTCCCGACCTCAGACAGGGAGCTGGGGACCCGGTTCCACCCAGTTTCACCCAGGTCTCACGTTTGAGGTCCCCATCTGGAGAGCGGGGGGCCTCACTCCCCCTGGAGAGGAAGTTTCTGGTACTTAGGCGGTGCCTAACGTGTGCGGGCCCCACGCCTGCCGCACTCCCCGTGAACGCCTCCGTGTGCCCCCACCTGCAGCCCCACTTCCCAGGCGAGGAGACAGAGGCGCCCCGGCGGGAGGGTGGGCTGCAGAGTCCCCGGGTCGGGGCAGCCCCGGCCTCAGTTTCCCCTGCGCCCCCGGGGGCGGTGCAGGCCGGGCGGGGGCTACCTTTGGAGGAGGCGGCGGCGGCCAGCGCGTGCATATAGGGGGTCTCCCAGCGCTCCATCACCGGCTTGCCCAGGATGCGCAGGTGCGTGTCCGCTGCGTCGTAGGCCGCGGGCGCCGCCCCCCACGCGGGGCTGCAGTTCTCGCCGGGCGCGAAGATGGGGGTCGCGCTGGGGGCGCTCATGCTGCAGGCTGGACGGCGACCCGACCTCGATCGCGCGCCGCCCGGGCCCGCTCCCTGCAGGGGCTTGTGGGCCGGGGGCGGGTCCAACAGGCCCGGGGGGCGGACCCGCGAGAGGACGCGCGCGCGCGGCTCCGGGAGCGGCCTCTAGCGGCGGCCACGCGAGAGGTGGCGGGAGTGGGGTCGGGGCCCCGGCCGCCCCCTCCCCAAGGAGCCTCGGTGCCCCCTCTGCGGAGCGGGCACCGCAGCCCCGCGCCCGGGGACGCGAACCTGCAGGCTGGGGACTGGAATCCCCGCCTTGCCGCTTACGCGCCATAGATTCCTCATCTGTCAGCACCGCAGAAAGGCCCCCTCCTCGCTGGGGTGTGAGAATCTGAGGATCTTCCAGGCGCTGTTGGAAGTGCTTTAAGTGTTTAAAATCATTTAATCTTCAGAAGATGCTACAGTGAGTTCTGTCTTTTTTTAATAGAGACGGGGTCTTGCTATGTTGCCCAGGTTGGTCTCAAACTCCTGGGCGCAAGCGATCCTCCCGCTTCAGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACCGCGCCCGCCAGGTTCTATGATGACTGTCGTTTTTCCTTCCTTCCTTCCTTCCTTTCTTTTTTGAAAGCAAGTTTATTAAGGAATAAAAATGAATGGCTACTCCATAGAGCAGCCGACTGTCATTTTACAGATGTGGAAACTGAGGCTTTGAGAAGCAAAGCCGGTGGTCTGGTGGCCACGAGGGTGGGGACCCAGCATTAGAGCTCTGATGCCCCCCTTTCATGAGCCCATGTCACACCCCCATAGGCTGGGGGTCATCTGAGACCCCGGGTCCCTAATGGGGGATTCCGCCCAAAGACGCCTCCAGTTCTGGAGACCAGGACTCAATCCCAGCAGTGCCCTTTCCTCCGGCGGCCCTGCAGCTGGGGTGTGCGGGGGTGGAATTAGGCCTCCCCCAGCCCAGGGTAGCCCCTTAGGGTCAAGCACACCCCCCGCCTGTTTCCTGGGGGCCCCCAAGCCCGCTGCGGTGGCGTCCTGGCTCTGATAGCCGGTTTCCTTCCCCCTCTGAACGTGGGGCCACAGTCATGAGCCCTGAGCACTGCCTGCCTGCCTGCCTGCCTGCCTGCCGTGCGTTCTGCACGGGTTAACAGATGCAGTTATTATGCCCATTTAACACGAGGGAAACTGAGGCCCAGAGAGGTTGAGGTTCACAGGTTGCAGCAGGGCCACGGTGTGAACGCAGGCAGCCTCGGAAACAGCTCCCGCGCGCGGCCTTCCCTGCGCCACCTTGTCTGGGTAGCTGCCTGCCCCATCACTGCCTGCTCAACGCCTCCACATGCCCCTGCCACCTCTTGCACAGCTCCTTAGCCCCGGGCCTTGGCACACGCTCTTCCCCTTGCCCAGACAGCCTCTCTCCTGGTCAGGCCGCTTTCTCGTTCTGTCTCAAGCTGAGCCCACGTGTCCTCTAGGAGACACCCCCATTCTGCCCCAGGACAGGCATGTCCTGGTCAGAAGCTGTTTTGTTTGTTTTTGTTTTTCTGAGACAGAGTCTCACTCTGTTGCTCAGGTTGGAGTGCAGTGGCATGATTTTGGCTCAGTGCAACCTCTGCCTCCCGGGTTCAAGCGATTCTCCTACCTCAGCCTCCTGGGTAGCTGTGATGACAGGCGCCCGCCACCAAGCCCGGCTAATTTTTTTTTTTTTTTTTTTTTTTTGTATTTTTAGTAGAAACGGGGTTTCACCATGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATTCACCCGCCTCGGCCTCCTAAAGTGCTGGGATTGCAAGGTGTGAGCCACCGCACCCACCCGGCCAGAAGCTGTTTTCTCTCTCTTTGGTAGTTCACTAACGGAAGGTATTTCTTCATGGTCCTAGCGTCCCTCTCACAGGGCTGTCAGTGATCCTGGCACACAGAA | CCCGAGATCGCCTCCAGGGCCCCTCCGTGAGCATGCCCATCCCCGGTGCTCCGCCATCCCACAGCCAGGCCCACACCCACTTGGGCTCTGTCCCCCCAGTGCACATCAGAGGGACCCCCACAAGCAAAGGAGGGGCTGCATTGGAGCTGGGGAGGCCCACCCTGTGATACGTCCCCTCACCCCTCACCATCAAAGTGACCGTCAGGCAGGGTGGGTGCCACATCCTCCCACAGGCCTTTCAAGGGGATGACCTTGCAGAGGGGAAAAGAAAAAGAGAGGACAGGGTAGAGAGGTCCCCAGGATCTCCCCACCTGCAGAAAGGGAGCGGCCAGGGGGACTCCCGAGAGAGAAGACCACCTCCTCCACCTCTGACAGCCCCAGGCCCCCAACCCCCAGGAAGCAGTGCCCTCACCCCAAGGAGTGGGGGTCCTGGAGGGCCTGCGGGCAGAGGGGCACCTTGTGTGTCTGCCGTGGGGCCCAGTCCCGGAGCCGCTGGAAGACGCCGTCATTGCACTCGATGATCCAATGCTCATCAATGGGCGCCTCCTGCACCTTTGACGCTGCGATGGCCATGCCAAAGCCCACCTCCAGGACCCGGCCCCCTGGGCAGACACAGGGCGCCTGGCATCACTAGGTGGGGCGGGCTTAGGAGGCTGCCTGGAGGAGGGGCACAGGGCAGGGCAGGGCTGGGGAGACTGCCTGGAGGAGGGGGCGCAGGGCTGGGCTGGGGGTCTGCCTGGAGGGGGGCGTGCAGAGCAGGGCTGGAGAGGCTGCCTGGAGGAGGGGGTGTGGGGCAATGCTGGGGAGGCTGCCTGGAGGAGGGGGTGCGGGGCAGGGCTGGAGAGGCTGCCAGGAGGAGGGGATGCAGGGCTGGGGAGGCTGTCTGGAAGAGGGGGTGCAGAGCAGGGCTGGGGAGGCTTCCTGGAGGAGGGGGCACAGGGTAGGGCAGGGCTGAGCTGGGGGTCTGCTTGGAGGAGGGGGTGCAGGGCTGAACTAGGCTATGTGAGTCACATTTGCCACAGGACGGGAGGGCACCCTGGGCCAGCATGGACAGAGGCGGGCGGAACACAGTAGTCCTGAGCGGGAACAGCGTGGGCCCTGGCCAGCGGCCAGAGAGAGGATGACCAGCCAGGGAGGCCGAAGACGGCCGCTTTTGGGGCCAGGCCTGTGGGGAGGCGAGAGCCTTGGACTTTGAGCCCAGCCCACGCTGTTTGTCCCGGGTCCCTTATCTCTCGGGTTAGTTACTTTTCTCTCCCCCTCCCTCTATCCGAAAGTTGGATTTGCAAGAGTGGCCAGGCAAGACCTGGACTTGAGACTATCTGGGAGGGGAAGGACTGGTCCCCAGTGGGCCACACATGGGCCCCCCGCTCAATCCTGATTGGCACTGGACACTGGACGTGCCCATTTTCAGGGTGGGAACACTGAGGCCCGACCCCTGGACGGGGCCTGTGTGGGGCCAGGGAGTCCTTTCTTAGCAGCCCTTAGCGTCTGACGCCAGGCAGGCCAGGGCCACCCCGGGGACAGCTGTCTCCCTGAGCTCAGCTTTCCGAGTGCTATTCTTAGCCGGGCGAGTCGGGGCTGCTCTCCCAGGCAGGCAGAAGGGCAGCCTCTCCCTGGCACGACCCCTTCCTCCCGACCTCAGACAGGGAGCTGGGGACCCGGTTCCACCCAGTTTCACCCAGGTCTCACGTTTGAGGTCCCCATCTGGAGAGCGGGGGGCCTCACTCCCCCTGGAGAGGAAGTTTCTGGTACTTAGGCGGTGCCTAACGTGTGCGGGCCCCACGCCTGCCGCACTCCCCGTGAACGCCTCCGTGTGCCCCCACCTGCAGCCCCACTTCCCAGGCGAGGAGACAGAGGCGCCCCGGCGGGAGGGTGGGCTGCAGAGTCCCCGGGTCGGGGCAGCCCCGGCCTCAGTTTCCCCTGCGCCCCCGGGGGCGGTGCAGGCCGGGCGGGGGCTACCTTTGGAGGAGGCGGCGGCGGCCAGCGCGTGCATATAGGGGGTCTCCCAGCGCTCCATCACCGGCTTGCCCAGGATGCGCAGGTGCGTGTCCGTGCCGCTGCGTCGTAGGCCGCGGGCGCCGCCCCCCACGCGGGGCTGCAGTTCTCGCCGGGCGCGAAGATGGGGGTCGCGCTGGGGGCGCTCATGCTGCAGGCTGGACGGCGACCCGACCTCGATCGCGCGCCGCCCGGGCCCGCTCCCTGCAGGGGCTTGTGGGCCGGGGGCGGGTCCAACAGGCCCGGGGGGCGGACCCGCGAGAGGACGCGCGCGCGCGGCTCCGGGAGCGGCCTCTAGCGGCGGCCACGCGAGAGGTGGCGGGAGTGGGGTCGGGGCCCCGGCCGCCCCCTCCCCAAGGAGCCTCGGTGCCCCCTCTGCGGAGCGGGCACCGCAGCCCCGCGCCCGGGGACGCGAACCTGCAGGCTGGGGACTGGAATCCCCGCCTTGCCGCTTACGCGCCATAGATTCCTCATCTGTCAGCACCGCAGAAAGGCCCCCTCCTCGCTGGGGTGTGAGAATCTGAGGATCTTCCAGGCGCTGTTGGAAGTGCTTTAAGTGTTTAAAATCATTTAATCTTCAGAAGATGCTACAGTGAGTTCTGTCTTTTTTTAATAGAGACGGGGTCTTGCTATGTTGCCCAGGTTGGTCTCAAACTCCTGGGCGCAAGCGATCCTCCCGCTTCAGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACCGCGCCCGCCAGGTTCTATGATGACTGTCGTTTTTCCTTCCTTCCTTCCTTCCTTTCTTTTTTGAAAGCAAGTTTATTAAGGAATAAAAATGAATGGCTACTCCATAGAGCAGCCGACTGTCATTTTACAGATGTGGAAACTGAGGCTTTGAGAAGCAAAGCCGGTGGTCTGGTGGCCACGAGGGTGGGGACCCAGCATTAGAGCTCTGATGCCCCCCTTTCATGAGCCCATGTCACACCCCCATAGGCTGGGGGTCATCTGAGACCCCGGGTCCCTAATGGGGGATTCCGCCCAAAGACGCCTCCAGTTCTGGAGACCAGGACTCAATCCCAGCAGTGCCCTTTCCTCCGGCGGCCCTGCAGCTGGGGTGTGCGGGGGTGGAATTAGGCCTCCCCCAGCCCAGGGTAGCCCCTTAGGGTCAAGCACACCCCCCGCCTGTTTCCTGGGGGCCCCCAAGCCCGCTGCGGTGGCGTCCTGGCTCTGATAGCCGGTTTCCTTCCCCCTCTGAACGTGGGGCCACAGTCATGAGCCCTGAGCACTGCCTGCCTGCCTGCCTGCCTGCCTGCCGTGCGTTCTGCACGGGTTAACAGATGCAGTTATTATGCCCATTTAACACGAGGGAAACTGAGGCCCAGAGAGGTTGAGGTTCACAGGTTGCAGCAGGGCCACGGTGTGAACGCAGGCAGCCTCGGAAACAGCTCCCGCGCGCGGCCTTCCCTGCGCCACCTTGTCTGGGTAGCTGCCTGCCCCATCACTGCCTGCTCAACGCCTCCACATGCCCCTGCCACCTCTTGCACAGCTCCTTAGCCCCGGGCCTTGGCACACGCTCTTCCCCTTGCCCAGACAGCCTCTCTCCTGGTCAGGCCGCTTTCTCGTTCTGTCTCAAGCTGAGCCCACGTGTCCTCTAGGAGACACCCCCATTCTGCCCCAGGACAGGCATGTCCTGGTCAGAAGCTGTTTTGTTTGTTTTTGTTTTTCTGAGACAGAGTCTCACTCTGTTGCTCAGGTTGGAGTGCAGTGGCATGATTTTGGCTCAGTGCAACCTCTGCCTCCCGGGTTCAAGCGATTCTCCTACCTCAGCCTCCTGGGTAGCTGTGATGACAGGCGCCCGCCACCAAGCCCGGCTAATTTTTTTTTTTTTTTTTTTTTTTTGTATTTTTAGTAGAAACGGGGTTTCACCATGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATTCACCCGCCTCGGCCTCCTAAAGTGCTGGGATTGCAAGGTGTGAGCCACCGCACCCACCCGGCCAGAAGCTGTTTTCTCTCTCTTTGGTAGTTCACTAACGGAAGGTATTTCTTCATGGTCCTAGCGTCCCTCTCACAGGGCTGTCAGTGATCCTGGCACA | pathogenic | 293,429 |
Considering the variant on chromosome 19, location 1401412, involving gene GAMT, would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Cerebral_creatine_deficiency_syndrome', 'Deficiency_of_guanidinoacetate_methyltransferase'] | TGAGCATGCCCATCCCCGGTGCTCCGCCATCCCACAGCCAGGCCCACACCCACTTGGGCTCTGTCCCCCCAGTGCACATCAGAGGGACCCCCACAAGCAAAGGAGGGGCTGCATTGGAGCTGGGGAGGCCCACCCTGTGATACGTCCCCTCACCCCTCACCATCAAAGTGACCGTCAGGCAGGGTGGGTGCCACATCCTCCCACAGGCCTTTCAAGGGGATGACCTTGCAGAGGGGAAAAGAAAAAGAGAGGACAGGGTAGAGAGGTCCCCAGGATCTCCCCACCTGCAGAAAGGGAGCGGCCAGGGGGACTCCCGAGAGAGAAGACCACCTCCTCCACCTCTGACAGCCCCAGGCCCCCAACCCCCAGGAAGCAGTGCCCTCACCCCAAGGAGTGGGGGTCCTGGAGGGCCTGCGGGCAGAGGGGCACCTTGTGTGTCTGCCGTGGGGCCCAGTCCCGGAGCCGCTGGAAGACGCCGTCATTGCACTCGATGATCCAATGCTCATCAATGGGCGCCTCCTGCACCTTTGACGCTGCGATGGCCATGCCAAAGCCCACCTCCAGGACCCGGCCCCCTGGGCAGACACAGGGCGCCTGGCATCACTAGGTGGGGCGGGCTTAGGAGGCTGCCTGGAGGAGGGGCACAGGGCAGGGCAGGGCTGGGGAGACTGCCTGGAGGAGGGGGCGCAGGGCTGGGCTGGGGGTCTGCCTGGAGGGGGGCGTGCAGAGCAGGGCTGGAGAGGCTGCCTGGAGGAGGGGGTGTGGGGCAATGCTGGGGAGGCTGCCTGGAGGAGGGGGTGCGGGGCAGGGCTGGAGAGGCTGCCAGGAGGAGGGGATGCAGGGCTGGGGAGGCTGTCTGGAAGAGGGGGTGCAGAGCAGGGCTGGGGAGGCTTCCTGGAGGAGGGGGCACAGGGTAGGGCAGGGCTGAGCTGGGGGTCTGCTTGGAGGAGGGGGTGCAGGGCTGAACTAGGCTATGTGAGTCACATTTGCCACAGGACGGGAGGGCACCCTGGGCCAGCATGGACAGAGGCGGGCGGAACACAGTAGTCCTGAGCGGGAACAGCGTGGGCCCTGGCCAGCGGCCAGAGAGAGGATGACCAGCCAGGGAGGCCGAAGACGGCCGCTTTTGGGGCCAGGCCTGTGGGGAGGCGAGAGCCTTGGACTTTGAGCCCAGCCCACGCTGTTTGTCCCGGGTCCCTTATCTCTCGGGTTAGTTACTTTTCTCTCCCCCTCCCTCTATCCGAAAGTTGGATTTGCAAGAGTGGCCAGGCAAGACCTGGACTTGAGACTATCTGGGAGGGGAAGGACTGGTCCCCAGTGGGCCACACATGGGCCCCCCGCTCAATCCTGATTGGCACTGGACACTGGACGTGCCCATTTTCAGGGTGGGAACACTGAGGCCCGACCCCTGGACGGGGCCTGTGTGGGGCCAGGGAGTCCTTTCTTAGCAGCCCTTAGCGTCTGACGCCAGGCAGGCCAGGGCCACCCCGGGGACAGCTGTCTCCCTGAGCTCAGCTTTCCGAGTGCTATTCTTAGCCGGGCGAGTCGGGGCTGCTCTCCCAGGCAGGCAGAAGGGCAGCCTCTCCCTGGCACGACCCCTTCCTCCCGACCTCAGACAGGGAGCTGGGGACCCGGTTCCACCCAGTTTCACCCAGGTCTCACGTTTGAGGTCCCCATCTGGAGAGCGGGGGGCCTCACTCCCCCTGGAGAGGAAGTTTCTGGTACTTAGGCGGTGCCTAACGTGTGCGGGCCCCACGCCTGCCGCACTCCCCGTGAACGCCTCCGTGTGCCCCCACCTGCAGCCCCACTTCCCAGGCGAGGAGACAGAGGCGCCCCGGCGGGAGGGTGGGCTGCAGAGTCCCCGGGTCGGGGCAGCCCCGGCCTCAGTTTCCCCTGCGCCCCCGGGGGCGGTGCAGGCCGGGCGGGGGCTACCTTTGGAGGAGGCGGCGGCGGCCAGCGCGTGCATATAGGGGGTCTCCCAGCGCTCCATCACCGGCTTGCCCAGGATGCGCAGGTGCGTGTCCGCTGCGTCGTAGGCCGCGGGCGCCGCCCCCCACGCGGGGCTGCAGTTCTCGCCGGGCGCGAAGATGGGGGTCGCGCTGGGGGCGCTCATGCTGCAGGCTGGACGGCGACCCGACCTCGATCGCGCGCCGCCCGGGCCCGCTCCCTGCAGGGGCTTGTGGGCCGGGGGCGGGTCCAACAGGCCCGGGGGGCGGACCCGCGAGAGGACGCGCGCGCGCGGCTCCGGGAGCGGCCTCTAGCGGCGGCCACGCGAGAGGTGGCGGGAGTGGGGTCGGGGCCCCGGCCGCCCCCTCCCCAAGGAGCCTCGGTGCCCCCTCTGCGGAGCGGGCACCGCAGCCCCGCGCCCGGGGACGCGAACCTGCAGGCTGGGGACTGGAATCCCCGCCTTGCCGCTTACGCGCCATAGATTCCTCATCTGTCAGCACCGCAGAAAGGCCCCCTCCTCGCTGGGGTGTGAGAATCTGAGGATCTTCCAGGCGCTGTTGGAAGTGCTTTAAGTGTTTAAAATCATTTAATCTTCAGAAGATGCTACAGTGAGTTCTGTCTTTTTTTAATAGAGACGGGGTCTTGCTATGTTGCCCAGGTTGGTCTCAAACTCCTGGGCGCAAGCGATCCTCCCGCTTCAGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACCGCGCCCGCCAGGTTCTATGATGACTGTCGTTTTTCCTTCCTTCCTTCCTTCCTTTCTTTTTTGAAAGCAAGTTTATTAAGGAATAAAAATGAATGGCTACTCCATAGAGCAGCCGACTGTCATTTTACAGATGTGGAAACTGAGGCTTTGAGAAGCAAAGCCGGTGGTCTGGTGGCCACGAGGGTGGGGACCCAGCATTAGAGCTCTGATGCCCCCCTTTCATGAGCCCATGTCACACCCCCATAGGCTGGGGGTCATCTGAGACCCCGGGTCCCTAATGGGGGATTCCGCCCAAAGACGCCTCCAGTTCTGGAGACCAGGACTCAATCCCAGCAGTGCCCTTTCCTCCGGCGGCCCTGCAGCTGGGGTGTGCGGGGGTGGAATTAGGCCTCCCCCAGCCCAGGGTAGCCCCTTAGGGTCAAGCACACCCCCCGCCTGTTTCCTGGGGGCCCCCAAGCCCGCTGCGGTGGCGTCCTGGCTCTGATAGCCGGTTTCCTTCCCCCTCTGAACGTGGGGCCACAGTCATGAGCCCTGAGCACTGCCTGCCTGCCTGCCTGCCTGCCTGCCGTGCGTTCTGCACGGGTTAACAGATGCAGTTATTATGCCCATTTAACACGAGGGAAACTGAGGCCCAGAGAGGTTGAGGTTCACAGGTTGCAGCAGGGCCACGGTGTGAACGCAGGCAGCCTCGGAAACAGCTCCCGCGCGCGGCCTTCCCTGCGCCACCTTGTCTGGGTAGCTGCCTGCCCCATCACTGCCTGCTCAACGCCTCCACATGCCCCTGCCACCTCTTGCACAGCTCCTTAGCCCCGGGCCTTGGCACACGCTCTTCCCCTTGCCCAGACAGCCTCTCTCCTGGTCAGGCCGCTTTCTCGTTCTGTCTCAAGCTGAGCCCACGTGTCCTCTAGGAGACACCCCCATTCTGCCCCAGGACAGGCATGTCCTGGTCAGAAGCTGTTTTGTTTGTTTTTGTTTTTCTGAGACAGAGTCTCACTCTGTTGCTCAGGTTGGAGTGCAGTGGCATGATTTTGGCTCAGTGCAACCTCTGCCTCCCGGGTTCAAGCGATTCTCCTACCTCAGCCTCCTGGGTAGCTGTGATGACAGGCGCCCGCCACCAAGCCCGGCTAATTTTTTTTTTTTTTTTTTTTTTTTGTATTTTTAGTAGAAACGGGGTTTCACCATGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATTCACCCGCCTCGGCCTCCTAAAGTGCTGGGATTGCAAGGTGTGAGCCACCGCACCCACCCGGCCAGAAGCTGTTTTCTCTCTCTTTGGTAGTTCACTAACGGAAGGTATTTCTTCATGGTCCTAGCGTCCCTCTCACAGGGCTGTCAGTGATCCTGGCACACAGAACATGCTTGATAGGCTGGGTGCAGCAGC | TGAGCATGCCCATCCCCGGTGCTCCGCCATCCCACAGCCAGGCCCACACCCACTTGGGCTCTGTCCCCCCAGTGCACATCAGAGGGACCCCCACAAGCAAAGGAGGGGCTGCATTGGAGCTGGGGAGGCCCACCCTGTGATACGTCCCCTCACCCCTCACCATCAAAGTGACCGTCAGGCAGGGTGGGTGCCACATCCTCCCACAGGCCTTTCAAGGGGATGACCTTGCAGAGGGGAAAAGAAAAAGAGAGGACAGGGTAGAGAGGTCCCCAGGATCTCCCCACCTGCAGAAAGGGAGCGGCCAGGGGGACTCCCGAGAGAGAAGACCACCTCCTCCACCTCTGACAGCCCCAGGCCCCCAACCCCCAGGAAGCAGTGCCCTCACCCCAAGGAGTGGGGGTCCTGGAGGGCCTGCGGGCAGAGGGGCACCTTGTGTGTCTGCCGTGGGGCCCAGTCCCGGAGCCGCTGGAAGACGCCGTCATTGCACTCGATGATCCAATGCTCATCAATGGGCGCCTCCTGCACCTTTGACGCTGCGATGGCCATGCCAAAGCCCACCTCCAGGACCCGGCCCCCTGGGCAGACACAGGGCGCCTGGCATCACTAGGTGGGGCGGGCTTAGGAGGCTGCCTGGAGGAGGGGCACAGGGCAGGGCAGGGCTGGGGAGACTGCCTGGAGGAGGGGGCGCAGGGCTGGGCTGGGGGTCTGCCTGGAGGGGGGCGTGCAGAGCAGGGCTGGAGAGGCTGCCTGGAGGAGGGGGTGTGGGGCAATGCTGGGGAGGCTGCCTGGAGGAGGGGGTGCGGGGCAGGGCTGGAGAGGCTGCCAGGAGGAGGGGATGCAGGGCTGGGGAGGCTGTCTGGAAGAGGGGGTGCAGAGCAGGGCTGGGGAGGCTTCCTGGAGGAGGGGGCACAGGGTAGGGCAGGGCTGAGCTGGGGGTCTGCTTGGAGGAGGGGGTGCAGGGCTGAACTAGGCTATGTGAGTCACATTTGCCACAGGACGGGAGGGCACCCTGGGCCAGCATGGACAGAGGCGGGCGGAACACAGTAGTCCTGAGCGGGAACAGCGTGGGCCCTGGCCAGCGGCCAGAGAGAGGATGACCAGCCAGGGAGGCCGAAGACGGCCGCTTTTGGGGCCAGGCCTGTGGGGAGGCGAGAGCCTTGGACTTTGAGCCCAGCCCACGCTGTTTGTCCCGGGTCCCTTATCTCTCGGGTTAGTTACTTTTCTCTCCCCCTCCCTCTATCCGAAAGTTGGATTTGCAAGAGTGGCCAGGCAAGACCTGGACTTGAGACTATCTGGGAGGGGAAGGACTGGTCCCCAGTGGGCCACACATGGGCCCCCCGCTCAATCCTGATTGGCACTGGACACTGGACGTGCCCATTTTCAGGGTGGGAACACTGAGGCCCGACCCCTGGACGGGGCCTGTGTGGGGCCAGGGAGTCCTTTCTTAGCAGCCCTTAGCGTCTGACGCCAGGCAGGCCAGGGCCACCCCGGGGACAGCTGTCTCCCTGAGCTCAGCTTTCCGAGTGCTATTCTTAGCCGGGCGAGTCGGGGCTGCTCTCCCAGGCAGGCAGAAGGGCAGCCTCTCCCTGGCACGACCCCTTCCTCCCGACCTCAGACAGGGAGCTGGGGACCCGGTTCCACCCAGTTTCACCCAGGTCTCACGTTTGAGGTCCCCATCTGGAGAGCGGGGGGCCTCACTCCCCCTGGAGAGGAAGTTTCTGGTACTTAGGCGGTGCCTAACGTGTGCGGGCCCCACGCCTGCCGCACTCCCCGTGAACGCCTCCGTGTGCCCCCACCTGCAGCCCCACTTCCCAGGCGAGGAGACAGAGGCGCCCCGGCGGGAGGGTGGGCTGCAGAGTCCCCGGGTCGGGGCAGCCCCGGCCTCAGTTTCCCCTGCGCCCCCGGGGGCGGTGCAGGCCGGGCGGGGGCTACCTTTGGAGGAGGCGGCGGCGGCCAGCGCGTGCATATAGGGGGTCTCCCAGCGCTCCATCACCGGCTTGCCCAGGATGCGCAGGTGCGTGTCCGCTGCGTCGTAGGCCGCGGGCGCCGCCCCCCCACGCGGGGCTGCAGTTCTCGCCGGGCGCGAAGATGGGGGTCGCGCTGGGGGCGCTCATGCTGCAGGCTGGACGGCGACCCGACCTCGATCGCGCGCCGCCCGGGCCCGCTCCCTGCAGGGGCTTGTGGGCCGGGGGCGGGTCCAACAGGCCCGGGGGGCGGACCCGCGAGAGGACGCGCGCGCGCGGCTCCGGGAGCGGCCTCTAGCGGCGGCCACGCGAGAGGTGGCGGGAGTGGGGTCGGGGCCCCGGCCGCCCCCTCCCCAAGGAGCCTCGGTGCCCCCTCTGCGGAGCGGGCACCGCAGCCCCGCGCCCGGGGACGCGAACCTGCAGGCTGGGGACTGGAATCCCCGCCTTGCCGCTTACGCGCCATAGATTCCTCATCTGTCAGCACCGCAGAAAGGCCCCCTCCTCGCTGGGGTGTGAGAATCTGAGGATCTTCCAGGCGCTGTTGGAAGTGCTTTAAGTGTTTAAAATCATTTAATCTTCAGAAGATGCTACAGTGAGTTCTGTCTTTTTTTAATAGAGACGGGGTCTTGCTATGTTGCCCAGGTTGGTCTCAAACTCCTGGGCGCAAGCGATCCTCCCGCTTCAGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACCGCGCCCGCCAGGTTCTATGATGACTGTCGTTTTTCCTTCCTTCCTTCCTTCCTTTCTTTTTTGAAAGCAAGTTTATTAAGGAATAAAAATGAATGGCTACTCCATAGAGCAGCCGACTGTCATTTTACAGATGTGGAAACTGAGGCTTTGAGAAGCAAAGCCGGTGGTCTGGTGGCCACGAGGGTGGGGACCCAGCATTAGAGCTCTGATGCCCCCCTTTCATGAGCCCATGTCACACCCCCATAGGCTGGGGGTCATCTGAGACCCCGGGTCCCTAATGGGGGATTCCGCCCAAAGACGCCTCCAGTTCTGGAGACCAGGACTCAATCCCAGCAGTGCCCTTTCCTCCGGCGGCCCTGCAGCTGGGGTGTGCGGGGGTGGAATTAGGCCTCCCCCAGCCCAGGGTAGCCCCTTAGGGTCAAGCACACCCCCCGCCTGTTTCCTGGGGGCCCCCAAGCCCGCTGCGGTGGCGTCCTGGCTCTGATAGCCGGTTTCCTTCCCCCTCTGAACGTGGGGCCACAGTCATGAGCCCTGAGCACTGCCTGCCTGCCTGCCTGCCTGCCTGCCGTGCGTTCTGCACGGGTTAACAGATGCAGTTATTATGCCCATTTAACACGAGGGAAACTGAGGCCCAGAGAGGTTGAGGTTCACAGGTTGCAGCAGGGCCACGGTGTGAACGCAGGCAGCCTCGGAAACAGCTCCCGCGCGCGGCCTTCCCTGCGCCACCTTGTCTGGGTAGCTGCCTGCCCCATCACTGCCTGCTCAACGCCTCCACATGCCCCTGCCACCTCTTGCACAGCTCCTTAGCCCCGGGCCTTGGCACACGCTCTTCCCCTTGCCCAGACAGCCTCTCTCCTGGTCAGGCCGCTTTCTCGTTCTGTCTCAAGCTGAGCCCACGTGTCCTCTAGGAGACACCCCCATTCTGCCCCAGGACAGGCATGTCCTGGTCAGAAGCTGTTTTGTTTGTTTTTGTTTTTCTGAGACAGAGTCTCACTCTGTTGCTCAGGTTGGAGTGCAGTGGCATGATTTTGGCTCAGTGCAACCTCTGCCTCCCGGGTTCAAGCGATTCTCCTACCTCAGCCTCCTGGGTAGCTGTGATGACAGGCGCCCGCCACCAAGCCCGGCTAATTTTTTTTTTTTTTTTTTTTTTTTGTATTTTTAGTAGAAACGGGGTTTCACCATGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATTCACCCGCCTCGGCCTCCTAAAGTGCTGGGATTGCAAGGTGTGAGCCACCGCACCCACCCGGCCAGAAGCTGTTTTCTCTCTCTTTGGTAGTTCACTAACGGAAGGTATTTCTTCATGGTCCTAGCGTCCCTCTCACAGGGCTGTCAGTGATCCTGGCACACAGAACATGCTTGATAGGCTGGGTGCAGCAG | pathogenic | 293,431 |
The mutation in gene GAMT at chromosome 19, position 1401412—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Cerebral_creatine_deficiency_syndrome', 'Deficiency_of_guanidinoacetate_methyltransferase'] | TGAGCATGCCCATCCCCGGTGCTCCGCCATCCCACAGCCAGGCCCACACCCACTTGGGCTCTGTCCCCCCAGTGCACATCAGAGGGACCCCCACAAGCAAAGGAGGGGCTGCATTGGAGCTGGGGAGGCCCACCCTGTGATACGTCCCCTCACCCCTCACCATCAAAGTGACCGTCAGGCAGGGTGGGTGCCACATCCTCCCACAGGCCTTTCAAGGGGATGACCTTGCAGAGGGGAAAAGAAAAAGAGAGGACAGGGTAGAGAGGTCCCCAGGATCTCCCCACCTGCAGAAAGGGAGCGGCCAGGGGGACTCCCGAGAGAGAAGACCACCTCCTCCACCTCTGACAGCCCCAGGCCCCCAACCCCCAGGAAGCAGTGCCCTCACCCCAAGGAGTGGGGGTCCTGGAGGGCCTGCGGGCAGAGGGGCACCTTGTGTGTCTGCCGTGGGGCCCAGTCCCGGAGCCGCTGGAAGACGCCGTCATTGCACTCGATGATCCAATGCTCATCAATGGGCGCCTCCTGCACCTTTGACGCTGCGATGGCCATGCCAAAGCCCACCTCCAGGACCCGGCCCCCTGGGCAGACACAGGGCGCCTGGCATCACTAGGTGGGGCGGGCTTAGGAGGCTGCCTGGAGGAGGGGCACAGGGCAGGGCAGGGCTGGGGAGACTGCCTGGAGGAGGGGGCGCAGGGCTGGGCTGGGGGTCTGCCTGGAGGGGGGCGTGCAGAGCAGGGCTGGAGAGGCTGCCTGGAGGAGGGGGTGTGGGGCAATGCTGGGGAGGCTGCCTGGAGGAGGGGGTGCGGGGCAGGGCTGGAGAGGCTGCCAGGAGGAGGGGATGCAGGGCTGGGGAGGCTGTCTGGAAGAGGGGGTGCAGAGCAGGGCTGGGGAGGCTTCCTGGAGGAGGGGGCACAGGGTAGGGCAGGGCTGAGCTGGGGGTCTGCTTGGAGGAGGGGGTGCAGGGCTGAACTAGGCTATGTGAGTCACATTTGCCACAGGACGGGAGGGCACCCTGGGCCAGCATGGACAGAGGCGGGCGGAACACAGTAGTCCTGAGCGGGAACAGCGTGGGCCCTGGCCAGCGGCCAGAGAGAGGATGACCAGCCAGGGAGGCCGAAGACGGCCGCTTTTGGGGCCAGGCCTGTGGGGAGGCGAGAGCCTTGGACTTTGAGCCCAGCCCACGCTGTTTGTCCCGGGTCCCTTATCTCTCGGGTTAGTTACTTTTCTCTCCCCCTCCCTCTATCCGAAAGTTGGATTTGCAAGAGTGGCCAGGCAAGACCTGGACTTGAGACTATCTGGGAGGGGAAGGACTGGTCCCCAGTGGGCCACACATGGGCCCCCCGCTCAATCCTGATTGGCACTGGACACTGGACGTGCCCATTTTCAGGGTGGGAACACTGAGGCCCGACCCCTGGACGGGGCCTGTGTGGGGCCAGGGAGTCCTTTCTTAGCAGCCCTTAGCGTCTGACGCCAGGCAGGCCAGGGCCACCCCGGGGACAGCTGTCTCCCTGAGCTCAGCTTTCCGAGTGCTATTCTTAGCCGGGCGAGTCGGGGCTGCTCTCCCAGGCAGGCAGAAGGGCAGCCTCTCCCTGGCACGACCCCTTCCTCCCGACCTCAGACAGGGAGCTGGGGACCCGGTTCCACCCAGTTTCACCCAGGTCTCACGTTTGAGGTCCCCATCTGGAGAGCGGGGGGCCTCACTCCCCCTGGAGAGGAAGTTTCTGGTACTTAGGCGGTGCCTAACGTGTGCGGGCCCCACGCCTGCCGCACTCCCCGTGAACGCCTCCGTGTGCCCCCACCTGCAGCCCCACTTCCCAGGCGAGGAGACAGAGGCGCCCCGGCGGGAGGGTGGGCTGCAGAGTCCCCGGGTCGGGGCAGCCCCGGCCTCAGTTTCCCCTGCGCCCCCGGGGGCGGTGCAGGCCGGGCGGGGGCTACCTTTGGAGGAGGCGGCGGCGGCCAGCGCGTGCATATAGGGGGTCTCCCAGCGCTCCATCACCGGCTTGCCCAGGATGCGCAGGTGCGTGTCCGCTGCGTCGTAGGCCGCGGGCGCCGCCCCCCACGCGGGGCTGCAGTTCTCGCCGGGCGCGAAGATGGGGGTCGCGCTGGGGGCGCTCATGCTGCAGGCTGGACGGCGACCCGACCTCGATCGCGCGCCGCCCGGGCCCGCTCCCTGCAGGGGCTTGTGGGCCGGGGGCGGGTCCAACAGGCCCGGGGGGCGGACCCGCGAGAGGACGCGCGCGCGCGGCTCCGGGAGCGGCCTCTAGCGGCGGCCACGCGAGAGGTGGCGGGAGTGGGGTCGGGGCCCCGGCCGCCCCCTCCCCAAGGAGCCTCGGTGCCCCCTCTGCGGAGCGGGCACCGCAGCCCCGCGCCCGGGGACGCGAACCTGCAGGCTGGGGACTGGAATCCCCGCCTTGCCGCTTACGCGCCATAGATTCCTCATCTGTCAGCACCGCAGAAAGGCCCCCTCCTCGCTGGGGTGTGAGAATCTGAGGATCTTCCAGGCGCTGTTGGAAGTGCTTTAAGTGTTTAAAATCATTTAATCTTCAGAAGATGCTACAGTGAGTTCTGTCTTTTTTTAATAGAGACGGGGTCTTGCTATGTTGCCCAGGTTGGTCTCAAACTCCTGGGCGCAAGCGATCCTCCCGCTTCAGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACCGCGCCCGCCAGGTTCTATGATGACTGTCGTTTTTCCTTCCTTCCTTCCTTCCTTTCTTTTTTGAAAGCAAGTTTATTAAGGAATAAAAATGAATGGCTACTCCATAGAGCAGCCGACTGTCATTTTACAGATGTGGAAACTGAGGCTTTGAGAAGCAAAGCCGGTGGTCTGGTGGCCACGAGGGTGGGGACCCAGCATTAGAGCTCTGATGCCCCCCTTTCATGAGCCCATGTCACACCCCCATAGGCTGGGGGTCATCTGAGACCCCGGGTCCCTAATGGGGGATTCCGCCCAAAGACGCCTCCAGTTCTGGAGACCAGGACTCAATCCCAGCAGTGCCCTTTCCTCCGGCGGCCCTGCAGCTGGGGTGTGCGGGGGTGGAATTAGGCCTCCCCCAGCCCAGGGTAGCCCCTTAGGGTCAAGCACACCCCCCGCCTGTTTCCTGGGGGCCCCCAAGCCCGCTGCGGTGGCGTCCTGGCTCTGATAGCCGGTTTCCTTCCCCCTCTGAACGTGGGGCCACAGTCATGAGCCCTGAGCACTGCCTGCCTGCCTGCCTGCCTGCCTGCCGTGCGTTCTGCACGGGTTAACAGATGCAGTTATTATGCCCATTTAACACGAGGGAAACTGAGGCCCAGAGAGGTTGAGGTTCACAGGTTGCAGCAGGGCCACGGTGTGAACGCAGGCAGCCTCGGAAACAGCTCCCGCGCGCGGCCTTCCCTGCGCCACCTTGTCTGGGTAGCTGCCTGCCCCATCACTGCCTGCTCAACGCCTCCACATGCCCCTGCCACCTCTTGCACAGCTCCTTAGCCCCGGGCCTTGGCACACGCTCTTCCCCTTGCCCAGACAGCCTCTCTCCTGGTCAGGCCGCTTTCTCGTTCTGTCTCAAGCTGAGCCCACGTGTCCTCTAGGAGACACCCCCATTCTGCCCCAGGACAGGCATGTCCTGGTCAGAAGCTGTTTTGTTTGTTTTTGTTTTTCTGAGACAGAGTCTCACTCTGTTGCTCAGGTTGGAGTGCAGTGGCATGATTTTGGCTCAGTGCAACCTCTGCCTCCCGGGTTCAAGCGATTCTCCTACCTCAGCCTCCTGGGTAGCTGTGATGACAGGCGCCCGCCACCAAGCCCGGCTAATTTTTTTTTTTTTTTTTTTTTTTTGTATTTTTAGTAGAAACGGGGTTTCACCATGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATTCACCCGCCTCGGCCTCCTAAAGTGCTGGGATTGCAAGGTGTGAGCCACCGCACCCACCCGGCCAGAAGCTGTTTTCTCTCTCTTTGGTAGTTCACTAACGGAAGGTATTTCTTCATGGTCCTAGCGTCCCTCTCACAGGGCTGTCAGTGATCCTGGCACACAGAACATGCTTGATAGGCTGGGTGCAGCAGC 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TGAGCATGCCCATCCCCGGTGCTCCGCCATCCCACAGCCAGGCCCACACCCACTTGGGCTCTGTCCCCCCAGTGCACATCAGAGGGACCCCCACAAGCAAAGGAGGGGCTGCATTGGAGCTGGGGAGGCCCACCCTGTGATACGTCCCCTCACCCCTCACCATCAAAGTGACCGTCAGGCAGGGTGGGTGCCACATCCTCCCACAGGCCTTTCAAGGGGATGACCTTGCAGAGGGGAAAAGAAAAAGAGAGGACAGGGTAGAGAGGTCCCCAGGATCTCCCCACCTGCAGAAAGGGAGCGGCCAGGGGGACTCCCGAGAGAGAAGACCACCTCCTCCACCTCTGACAGCCCCAGGCCCCCAACCCCCAGGAAGCAGTGCCCTCACCCCAAGGAGTGGGGGTCCTGGAGGGCCTGCGGGCAGAGGGGCACCTTGTGTGTCTGCCGTGGGGCCCAGTCCCGGAGCCGCTGGAAGACGCCGTCATTGCACTCGATGATCCAATGCTCATCAATGGGCGCCTCCTGCACCTTTGACGCTGCGATGGCCATGCCAAAGCCCACCTCCAGGACCCGGCCCCCTGGGCAGACACAGGGCGCCTGGCATCACTAGGTGGGGCGGGCTTAGGAGGCTGCCTGGAGGAGGGGCACAGGGCAGGGCAGGGCTGGGGAGACTGCCTGGAGGAGGGGGCGCAGGGCTGGGCTGGGGGTCTGCCTGGAGGGGGGCGTGCAGAGCAGGGCTGGAGAGGCTGCCTGGAGGAGGGGGTGTGGGGCAATGCTGGGGAGGCTGCCTGGAGGAGGGGGTGCGGGGCAGGGCTGGAGAGGCTGCCAGGAGGAGGGGATGCAGGGCTGGGGAGGCTGTCTGGAAGAGGGGGTGCAGAGCAGGGCTGGGGAGGCTTCCTGGAGGAGGGGGCACAGGGTAGGGCAGGGCTGAGCTGGGGGTCTGCTTGGAGGAGGGGGTGCAGGGCTGAACTAGGCTATGTGAGTCACATTTGCCACAGGACGGGAGGGCACCCTGGGCCAGCATGGACAGAGGCGGGCGGAACACAGTAGTCCTGAGCGGGAACAGCGTGGGCCCTGGCCAGCGGCCAGAGAGAGGATGACCAGCCAGGGAGGCCGAAGACGGCCGCTTTTGGGGCCAGGCCTGTGGGGAGGCGAGAGCCTTGGACTTTGAGCCCAGCCCACGCTGTTTGTCCCGGGTCCCTTATCTCTCGGGTTAGTTACTTTTCTCTCCCCCTCCCTCTATCCGAAAGTTGGATTTGCAAGAGTGGCCAGGCAAGACCTGGACTTGAGACTATCTGGGAGGGGAAGGACTGGTCCCCAGTGGGCCACACATGGGCCCCCCGCTCAATCCTGATTGGCACTGGACACTGGACGTGCCCATTTTCAGGGTGGGAACACTGAGGCCCGACCCCTGGACGGGGCCTGTGTGGGGCCAGGGAGTCCTTTCTTAGCAGCCCTTAGCGTCTGACGCCAGGCAGGCCAGGGCCACCCCGGGGACAGCTGTCTCCCTGAGCTCAGCTTTCCGAGTGCTATTCTTAGCCGGGCGAGTCGGGGCTGCTCTCCCAGGCAGGCAGAAGGGCAGCCTCTCCCTGGCACGACCCCTTCCTCCCGACCTCAGACAGGGAGCTGGGGACCCGGTTCCACCCAGTTTCACCCAGGTCTCACGTTTGAGGTCCCCATCTGGAGAGCGGGGGGCCTCACTCCCCCTGGAGAGGAAGTTTCTGGTACTTAGGCGGTGCCTAACGTGTGCGGGCCCCACGCCTGCCGCACTCCCCGTGAACGCCTCCGTGTGCCCCCACCTGCAGCCCCACTTCCCAGGCGAGGAGACAGAGGCGCCCCGGCGGGAGGGTGGGCTGCAGAGTCCCCGGGTCGGGGCAGCCCCGGCCTCAGTTTCCCCTGCGCCCCCGGGGGCGGTGCAGGCCGGGCGGGGGCTACCTTTGGAGGAGGCGGCGGCGGCCAGCGCGTGCATATAGGGGGTCTCCCAGCGCTCCATCACCGGCTTGCCCAGGATGCGCAGGTGCGTGTCCGCTGCGTCGTAGGCCGCGGGCGCCGCCCCCACGCGGGGCTGCAGTTCTCGCCGGGCGCGAAGATGGGGGTCGCGCTGGGGGCGCTCATGCTGCAGGCTGGACGGCGACCCGACCTCGATCGCGCGCCGCCCGGGCCCGCTCCCTGCAGGGGCTTGTGGGCCGGGGGCGGGTCCAACAGGCCCGGGGGGCGGACCCGCGAGAGGACGCGCGCGCGCGGCTCCGGGAGCGGCCTCTAGCGGCGGCCACGCGAGAGGTGGCGGGAGTGGGGTCGGGGCCCCGGCCGCCCCCTCCCCAAGGAGCCTCGGTGCCCCCTCTGCGGAGCGGGCACCGCAGCCCCGCGCCCGGGGACGCGAACCTGCAGGCTGGGGACTGGAATCCCCGCCTTGCCGCTTACGCGCCATAGATTCCTCATCTGTCAGCACCGCAGAAAGGCCCCCTCCTCGCTGGGGTGTGAGAATCTGAGGATCTTCCAGGCGCTGTTGGAAGTGCTTTAAGTGTTTAAAATCATTTAATCTTCAGAAGATGCTACAGTGAGTTCTGTCTTTTTTTAATAGAGACGGGGTCTTGCTATGTTGCCCAGGTTGGTCTCAAACTCCTGGGCGCAAGCGATCCTCCCGCTTCAGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACCGCGCCCGCCAGGTTCTATGATGACTGTCGTTTTTCCTTCCTTCCTTCCTTCCTTTCTTTTTTGAAAGCAAGTTTATTAAGGAATAAAAATGAATGGCTACTCCATAGAGCAGCCGACTGTCATTTTACAGATGTGGAAACTGAGGCTTTGAGAAGCAAAGCCGGTGGTCTGGTGGCCACGAGGGTGGGGACCCAGCATTAGAGCTCTGATGCCCCCCTTTCATGAGCCCATGTCACACCCCCATAGGCTGGGGGTCATCTGAGACCCCGGGTCCCTAATGGGGGATTCCGCCCAAAGACGCCTCCAGTTCTGGAGACCAGGACTCAATCCCAGCAGTGCCCTTTCCTCCGGCGGCCCTGCAGCTGGGGTGTGCGGGGGTGGAATTAGGCCTCCCCCAGCCCAGGGTAGCCCCTTAGGGTCAAGCACACCCCCCGCCTGTTTCCTGGGGGCCCCCAAGCCCGCTGCGGTGGCGTCCTGGCTCTGATAGCCGGTTTCCTTCCCCCTCTGAACGTGGGGCCACAGTCATGAGCCCTGAGCACTGCCTGCCTGCCTGCCTGCCTGCCTGCCGTGCGTTCTGCACGGGTTAACAGATGCAGTTATTATGCCCATTTAACACGAGGGAAACTGAGGCCCAGAGAGGTTGAGGTTCACAGGTTGCAGCAGGGCCACGGTGTGAACGCAGGCAGCCTCGGAAACAGCTCCCGCGCGCGGCCTTCCCTGCGCCACCTTGTCTGGGTAGCTGCCTGCCCCATCACTGCCTGCTCAACGCCTCCACATGCCCCTGCCACCTCTTGCACAGCTCCTTAGCCCCGGGCCTTGGCACACGCTCTTCCCCTTGCCCAGACAGCCTCTCTCCTGGTCAGGCCGCTTTCTCGTTCTGTCTCAAGCTGAGCCCACGTGTCCTCTAGGAGACACCCCCATTCTGCCCCAGGACAGGCATGTCCTGGTCAGAAGCTGTTTTGTTTGTTTTTGTTTTTCTGAGACAGAGTCTCACTCTGTTGCTCAGGTTGGAGTGCAGTGGCATGATTTTGGCTCAGTGCAACCTCTGCCTCCCGGGTTCAAGCGATTCTCCTACCTCAGCCTCCTGGGTAGCTGTGATGACAGGCGCCCGCCACCAAGCCCGGCTAATTTTTTTTTTTTTTTTTTTTTTTTGTATTTTTAGTAGAAACGGGGTTTCACCATGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATTCACCCGCCTCGGCCTCCTAAAGTGCTGGGATTGCAAGGTGTGAGCCACCGCACCCACCCGGCCAGAAGCTGTTTTCTCTCTCTTTGGTAGTTCACTAACGGAAGGTATTTCTTCATGGTCCTAGCGTCCCTCTCACAGGGCTGTCAGTGATCCTGGCACACAGAACATGCTTGATAGGCTGGGTGCAGCAGCN | pathogenic | 293,432 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 19, position 1401418, gene GAMT. What disease(s) is it linked to if pathogenic? | pathogenic; ['Deficiency_of_guanidinoacetate_methyltransferase'] | TGCCCATCCCCGGTGCTCCGCCATCCCACAGCCAGGCCCACACCCACTTGGGCTCTGTCCCCCCAGTGCACATCAGAGGGACCCCCACAAGCAAAGGAGGGGCTGCATTGGAGCTGGGGAGGCCCACCCTGTGATACGTCCCCTCACCCCTCACCATCAAAGTGACCGTCAGGCAGGGTGGGTGCCACATCCTCCCACAGGCCTTTCAAGGGGATGACCTTGCAGAGGGGAAAAGAAAAAGAGAGGACAGGGTAGAGAGGTCCCCAGGATCTCCCCACCTGCAGAAAGGGAGCGGCCAGGGGGACTCCCGAGAGAGAAGACCACCTCCTCCACCTCTGACAGCCCCAGGCCCCCAACCCCCAGGAAGCAGTGCCCTCACCCCAAGGAGTGGGGGTCCTGGAGGGCCTGCGGGCAGAGGGGCACCTTGTGTGTCTGCCGTGGGGCCCAGTCCCGGAGCCGCTGGAAGACGCCGTCATTGCACTCGATGATCCAATGCTCATCAATGGGCGCCTCCTGCACCTTTGACGCTGCGATGGCCATGCCAAAGCCCACCTCCAGGACCCGGCCCCCTGGGCAGACACAGGGCGCCTGGCATCACTAGGTGGGGCGGGCTTAGGAGGCTGCCTGGAGGAGGGGCACAGGGCAGGGCAGGGCTGGGGAGACTGCCTGGAGGAGGGGGCGCAGGGCTGGGCTGGGGGTCTGCCTGGAGGGGGGCGTGCAGAGCAGGGCTGGAGAGGCTGCCTGGAGGAGGGGGTGTGGGGCAATGCTGGGGAGGCTGCCTGGAGGAGGGGGTGCGGGGCAGGGCTGGAGAGGCTGCCAGGAGGAGGGGATGCAGGGCTGGGGAGGCTGTCTGGAAGAGGGGGTGCAGAGCAGGGCTGGGGAGGCTTCCTGGAGGAGGGGGCACAGGGTAGGGCAGGGCTGAGCTGGGGGTCTGCTTGGAGGAGGGGGTGCAGGGCTGAACTAGGCTATGTGAGTCACATTTGCCACAGGACGGGAGGGCACCCTGGGCCAGCATGGACAGAGGCGGGCGGAACACAGTAGTCCTGAGCGGGAACAGCGTGGGCCCTGGCCAGCGGCCAGAGAGAGGATGACCAGCCAGGGAGGCCGAAGACGGCCGCTTTTGGGGCCAGGCCTGTGGGGAGGCGAGAGCCTTGGACTTTGAGCCCAGCCCACGCTGTTTGTCCCGGGTCCCTTATCTCTCGGGTTAGTTACTTTTCTCTCCCCCTCCCTCTATCCGAAAGTTGGATTTGCAAGAGTGGCCAGGCAAGACCTGGACTTGAGACTATCTGGGAGGGGAAGGACTGGTCCCCAGTGGGCCACACATGGGCCCCCCGCTCAATCCTGATTGGCACTGGACACTGGACGTGCCCATTTTCAGGGTGGGAACACTGAGGCCCGACCCCTGGACGGGGCCTGTGTGGGGCCAGGGAGTCCTTTCTTAGCAGCCCTTAGCGTCTGACGCCAGGCAGGCCAGGGCCACCCCGGGGACAGCTGTCTCCCTGAGCTCAGCTTTCCGAGTGCTATTCTTAGCCGGGCGAGTCGGGGCTGCTCTCCCAGGCAGGCAGAAGGGCAGCCTCTCCCTGGCACGACCCCTTCCTCCCGACCTCAGACAGGGAGCTGGGGACCCGGTTCCACCCAGTTTCACCCAGGTCTCACGTTTGAGGTCCCCATCTGGAGAGCGGGGGGCCTCACTCCCCCTGGAGAGGAAGTTTCTGGTACTTAGGCGGTGCCTAACGTGTGCGGGCCCCACGCCTGCCGCACTCCCCGTGAACGCCTCCGTGTGCCCCCACCTGCAGCCCCACTTCCCAGGCGAGGAGACAGAGGCGCCCCGGCGGGAGGGTGGGCTGCAGAGTCCCCGGGTCGGGGCAGCCCCGGCCTCAGTTTCCCCTGCGCCCCCGGGGGCGGTGCAGGCCGGGCGGGGGCTACCTTTGGAGGAGGCGGCGGCGGCCAGCGCGTGCATATAGGGGGTCTCCCAGCGCTCCATCACCGGCTTGCCCAGGATGCGCAGGTGCGTGTCCGCTGCGTCGTAGGCCGCGGGCGCCGCCCCCCACGCGGGGCTGCAGTTCTCGCCGGGCGCGAAGATGGGGGTCGCGCTGGGGGCGCTCATGCTGCAGGCTGGACGGCGACCCGACCTCGATCGCGCGCCGCCCGGGCCCGCTCCCTGCAGGGGCTTGTGGGCCGGGGGCGGGTCCAACAGGCCCGGGGGGCGGACCCGCGAGAGGACGCGCGCGCGCGGCTCCGGGAGCGGCCTCTAGCGGCGGCCACGCGAGAGGTGGCGGGAGTGGGGTCGGGGCCCCGGCCGCCCCCTCCCCAAGGAGCCTCGGTGCCCCCTCTGCGGAGCGGGCACCGCAGCCCCGCGCCCGGGGACGCGAACCTGCAGGCTGGGGACTGGAATCCCCGCCTTGCCGCTTACGCGCCATAGATTCCTCATCTGTCAGCACCGCAGAAAGGCCCCCTCCTCGCTGGGGTGTGAGAATCTGAGGATCTTCCAGGCGCTGTTGGAAGTGCTTTAAGTGTTTAAAATCATTTAATCTTCAGAAGATGCTACAGTGAGTTCTGTCTTTTTTTAATAGAGACGGGGTCTTGCTATGTTGCCCAGGTTGGTCTCAAACTCCTGGGCGCAAGCGATCCTCCCGCTTCAGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACCGCGCCCGCCAGGTTCTATGATGACTGTCGTTTTTCCTTCCTTCCTTCCTTCCTTTCTTTTTTGAAAGCAAGTTTATTAAGGAATAAAAATGAATGGCTACTCCATAGAGCAGCCGACTGTCATTTTACAGATGTGGAAACTGAGGCTTTGAGAAGCAAAGCCGGTGGTCTGGTGGCCACGAGGGTGGGGACCCAGCATTAGAGCTCTGATGCCCCCCTTTCATGAGCCCATGTCACACCCCCATAGGCTGGGGGTCATCTGAGACCCCGGGTCCCTAATGGGGGATTCCGCCCAAAGACGCCTCCAGTTCTGGAGACCAGGACTCAATCCCAGCAGTGCCCTTTCCTCCGGCGGCCCTGCAGCTGGGGTGTGCGGGGGTGGAATTAGGCCTCCCCCAGCCCAGGGTAGCCCCTTAGGGTCAAGCACACCCCCCGCCTGTTTCCTGGGGGCCCCCAAGCCCGCTGCGGTGGCGTCCTGGCTCTGATAGCCGGTTTCCTTCCCCCTCTGAACGTGGGGCCACAGTCATGAGCCCTGAGCACTGCCTGCCTGCCTGCCTGCCTGCCTGCCGTGCGTTCTGCACGGGTTAACAGATGCAGTTATTATGCCCATTTAACACGAGGGAAACTGAGGCCCAGAGAGGTTGAGGTTCACAGGTTGCAGCAGGGCCACGGTGTGAACGCAGGCAGCCTCGGAAACAGCTCCCGCGCGCGGCCTTCCCTGCGCCACCTTGTCTGGGTAGCTGCCTGCCCCATCACTGCCTGCTCAACGCCTCCACATGCCCCTGCCACCTCTTGCACAGCTCCTTAGCCCCGGGCCTTGGCACACGCTCTTCCCCTTGCCCAGACAGCCTCTCTCCTGGTCAGGCCGCTTTCTCGTTCTGTCTCAAGCTGAGCCCACGTGTCCTCTAGGAGACACCCCCATTCTGCCCCAGGACAGGCATGTCCTGGTCAGAAGCTGTTTTGTTTGTTTTTGTTTTTCTGAGACAGAGTCTCACTCTGTTGCTCAGGTTGGAGTGCAGTGGCATGATTTTGGCTCAGTGCAACCTCTGCCTCCCGGGTTCAAGCGATTCTCCTACCTCAGCCTCCTGGGTAGCTGTGATGACAGGCGCCCGCCACCAAGCCCGGCTAATTTTTTTTTTTTTTTTTTTTTTTTGTATTTTTAGTAGAAACGGGGTTTCACCATGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATTCACCCGCCTCGGCCTCCTAAAGTGCTGGGATTGCAAGGTGTGAGCCACCGCACCCACCCGGCCAGAAGCTGTTTTCTCTCTCTTTGGTAGTTCACTAACGGAAGGTATTTCTTCATGGTCCTAGCGTCCCTCTCACAGGGCTGTCAGTGATCCTGGCACACAGAACATGCTTGATAGGCTGGGTGCAGCAGCTCCCAC | TGCCCATCCCCGGTGCTCCGCCATCCCACAGCCAGGCCCACACCCACTTGGGCTCTGTCCCCCCAGTGCACATCAGAGGGACCCCCACAAGCAAAGGAGGGGCTGCATTGGAGCTGGGGAGGCCCACCCTGTGATACGTCCCCTCACCCCTCACCATCAAAGTGACCGTCAGGCAGGGTGGGTGCCACATCCTCCCACAGGCCTTTCAAGGGGATGACCTTGCAGAGGGGAAAAGAAAAAGAGAGGACAGGGTAGAGAGGTCCCCAGGATCTCCCCACCTGCAGAAAGGGAGCGGCCAGGGGGACTCCCGAGAGAGAAGACCACCTCCTCCACCTCTGACAGCCCCAGGCCCCCAACCCCCAGGAAGCAGTGCCCTCACCCCAAGGAGTGGGGGTCCTGGAGGGCCTGCGGGCAGAGGGGCACCTTGTGTGTCTGCCGTGGGGCCCAGTCCCGGAGCCGCTGGAAGACGCCGTCATTGCACTCGATGATCCAATGCTCATCAATGGGCGCCTCCTGCACCTTTGACGCTGCGATGGCCATGCCAAAGCCCACCTCCAGGACCCGGCCCCCTGGGCAGACACAGGGCGCCTGGCATCACTAGGTGGGGCGGGCTTAGGAGGCTGCCTGGAGGAGGGGCACAGGGCAGGGCAGGGCTGGGGAGACTGCCTGGAGGAGGGGGCGCAGGGCTGGGCTGGGGGTCTGCCTGGAGGGGGGCGTGCAGAGCAGGGCTGGAGAGGCTGCCTGGAGGAGGGGGTGTGGGGCAATGCTGGGGAGGCTGCCTGGAGGAGGGGGTGCGGGGCAGGGCTGGAGAGGCTGCCAGGAGGAGGGGATGCAGGGCTGGGGAGGCTGTCTGGAAGAGGGGGTGCAGAGCAGGGCTGGGGAGGCTTCCTGGAGGAGGGGGCACAGGGTAGGGCAGGGCTGAGCTGGGGGTCTGCTTGGAGGAGGGGGTGCAGGGCTGAACTAGGCTATGTGAGTCACATTTGCCACAGGACGGGAGGGCACCCTGGGCCAGCATGGACAGAGGCGGGCGGAACACAGTAGTCCTGAGCGGGAACAGCGTGGGCCCTGGCCAGCGGCCAGAGAGAGGATGACCAGCCAGGGAGGCCGAAGACGGCCGCTTTTGGGGCCAGGCCTGTGGGGAGGCGAGAGCCTTGGACTTTGAGCCCAGCCCACGCTGTTTGTCCCGGGTCCCTTATCTCTCGGGTTAGTTACTTTTCTCTCCCCCTCCCTCTATCCGAAAGTTGGATTTGCAAGAGTGGCCAGGCAAGACCTGGACTTGAGACTATCTGGGAGGGGAAGGACTGGTCCCCAGTGGGCCACACATGGGCCCCCCGCTCAATCCTGATTGGCACTGGACACTGGACGTGCCCATTTTCAGGGTGGGAACACTGAGGCCCGACCCCTGGACGGGGCCTGTGTGGGGCCAGGGAGTCCTTTCTTAGCAGCCCTTAGCGTCTGACGCCAGGCAGGCCAGGGCCACCCCGGGGACAGCTGTCTCCCTGAGCTCAGCTTTCCGAGTGCTATTCTTAGCCGGGCGAGTCGGGGCTGCTCTCCCAGGCAGGCAGAAGGGCAGCCTCTCCCTGGCACGACCCCTTCCTCCCGACCTCAGACAGGGAGCTGGGGACCCGGTTCCACCCAGTTTCACCCAGGTCTCACGTTTGAGGTCCCCATCTGGAGAGCGGGGGGCCTCACTCCCCCTGGAGAGGAAGTTTCTGGTACTTAGGCGGTGCCTAACGTGTGCGGGCCCCACGCCTGCCGCACTCCCCGTGAACGCCTCCGTGTGCCCCCACCTGCAGCCCCACTTCCCAGGCGAGGAGACAGAGGCGCCCCGGCGGGAGGGTGGGCTGCAGAGTCCCCGGGTCGGGGCAGCCCCGGCCTCAGTTTCCCCTGCGCCCCCGGGGGCGGTGCAGGCCGGGCGGGGGCTACCTTTGGAGGAGGCGGCGGCGGCCAGCGCGTGCATATAGGGGGTCTCCCAGCGCTCCATCACCGGCTTGCCCAGGATGCGCAGGTGCGTGTCCGCTGCGTCGTAGGCCGCGGGCGCCGCCCCCCAACGCGGGGCTGCAGTTCTCGCCGGGCGCGAAGATGGGGGTCGCGCTGGGGGCGCTCATGCTGCAGGCTGGACGGCGACCCGACCTCGATCGCGCGCCGCCCGGGCCCGCTCCCTGCAGGGGCTTGTGGGCCGGGGGCGGGTCCAACAGGCCCGGGGGGCGGACCCGCGAGAGGACGCGCGCGCGCGGCTCCGGGAGCGGCCTCTAGCGGCGGCCACGCGAGAGGTGGCGGGAGTGGGGTCGGGGCCCCGGCCGCCCCCTCCCCAAGGAGCCTCGGTGCCCCCTCTGCGGAGCGGGCACCGCAGCCCCGCGCCCGGGGACGCGAACCTGCAGGCTGGGGACTGGAATCCCCGCCTTGCCGCTTACGCGCCATAGATTCCTCATCTGTCAGCACCGCAGAAAGGCCCCCTCCTCGCTGGGGTGTGAGAATCTGAGGATCTTCCAGGCGCTGTTGGAAGTGCTTTAAGTGTTTAAAATCATTTAATCTTCAGAAGATGCTACAGTGAGTTCTGTCTTTTTTTAATAGAGACGGGGTCTTGCTATGTTGCCCAGGTTGGTCTCAAACTCCTGGGCGCAAGCGATCCTCCCGCTTCAGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACCGCGCCCGCCAGGTTCTATGATGACTGTCGTTTTTCCTTCCTTCCTTCCTTCCTTTCTTTTTTGAAAGCAAGTTTATTAAGGAATAAAAATGAATGGCTACTCCATAGAGCAGCCGACTGTCATTTTACAGATGTGGAAACTGAGGCTTTGAGAAGCAAAGCCGGTGGTCTGGTGGCCACGAGGGTGGGGACCCAGCATTAGAGCTCTGATGCCCCCCTTTCATGAGCCCATGTCACACCCCCATAGGCTGGGGGTCATCTGAGACCCCGGGTCCCTAATGGGGGATTCCGCCCAAAGACGCCTCCAGTTCTGGAGACCAGGACTCAATCCCAGCAGTGCCCTTTCCTCCGGCGGCCCTGCAGCTGGGGTGTGCGGGGGTGGAATTAGGCCTCCCCCAGCCCAGGGTAGCCCCTTAGGGTCAAGCACACCCCCCGCCTGTTTCCTGGGGGCCCCCAAGCCCGCTGCGGTGGCGTCCTGGCTCTGATAGCCGGTTTCCTTCCCCCTCTGAACGTGGGGCCACAGTCATGAGCCCTGAGCACTGCCTGCCTGCCTGCCTGCCTGCCTGCCGTGCGTTCTGCACGGGTTAACAGATGCAGTTATTATGCCCATTTAACACGAGGGAAACTGAGGCCCAGAGAGGTTGAGGTTCACAGGTTGCAGCAGGGCCACGGTGTGAACGCAGGCAGCCTCGGAAACAGCTCCCGCGCGCGGCCTTCCCTGCGCCACCTTGTCTGGGTAGCTGCCTGCCCCATCACTGCCTGCTCAACGCCTCCACATGCCCCTGCCACCTCTTGCACAGCTCCTTAGCCCCGGGCCTTGGCACACGCTCTTCCCCTTGCCCAGACAGCCTCTCTCCTGGTCAGGCCGCTTTCTCGTTCTGTCTCAAGCTGAGCCCACGTGTCCTCTAGGAGACACCCCCATTCTGCCCCAGGACAGGCATGTCCTGGTCAGAAGCTGTTTTGTTTGTTTTTGTTTTTCTGAGACAGAGTCTCACTCTGTTGCTCAGGTTGGAGTGCAGTGGCATGATTTTGGCTCAGTGCAACCTCTGCCTCCCGGGTTCAAGCGATTCTCCTACCTCAGCCTCCTGGGTAGCTGTGATGACAGGCGCCCGCCACCAAGCCCGGCTAATTTTTTTTTTTTTTTTTTTTTTTTGTATTTTTAGTAGAAACGGGGTTTCACCATGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATTCACCCGCCTCGGCCTCCTAAAGTGCTGGGATTGCAAGGTGTGAGCCACCGCACCCACCCGGCCAGAAGCTGTTTTCTCTCTCTTTGGTAGTTCACTAACGGAAGGTATTTCTTCATGGTCCTAGCGTCCCTCTCACAGGGCTGTCAGTGATCCTGGCACACAGAACATGCTTGATAGGCTGGGTGCAGCAGCTCCCA | pathogenic | 293,434 |
A genetic variant at chromosome 19, position 1401426, affecting gene GAMT—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Cerebral_creatine_deficiency_syndrome', 'Deficiency_of_guanidinoacetate_methyltransferase'] | CCCGGTGCTCCGCCATCCCACAGCCAGGCCCACACCCACTTGGGCTCTGTCCCCCCAGTGCACATCAGAGGGACCCCCACAAGCAAAGGAGGGGCTGCATTGGAGCTGGGGAGGCCCACCCTGTGATACGTCCCCTCACCCCTCACCATCAAAGTGACCGTCAGGCAGGGTGGGTGCCACATCCTCCCACAGGCCTTTCAAGGGGATGACCTTGCAGAGGGGAAAAGAAAAAGAGAGGACAGGGTAGAGAGGTCCCCAGGATCTCCCCACCTGCAGAAAGGGAGCGGCCAGGGGGACTCCCGAGAGAGAAGACCACCTCCTCCACCTCTGACAGCCCCAGGCCCCCAACCCCCAGGAAGCAGTGCCCTCACCCCAAGGAGTGGGGGTCCTGGAGGGCCTGCGGGCAGAGGGGCACCTTGTGTGTCTGCCGTGGGGCCCAGTCCCGGAGCCGCTGGAAGACGCCGTCATTGCACTCGATGATCCAATGCTCATCAATGGGCGCCTCCTGCACCTTTGACGCTGCGATGGCCATGCCAAAGCCCACCTCCAGGACCCGGCCCCCTGGGCAGACACAGGGCGCCTGGCATCACTAGGTGGGGCGGGCTTAGGAGGCTGCCTGGAGGAGGGGCACAGGGCAGGGCAGGGCTGGGGAGACTGCCTGGAGGAGGGGGCGCAGGGCTGGGCTGGGGGTCTGCCTGGAGGGGGGCGTGCAGAGCAGGGCTGGAGAGGCTGCCTGGAGGAGGGGGTGTGGGGCAATGCTGGGGAGGCTGCCTGGAGGAGGGGGTGCGGGGCAGGGCTGGAGAGGCTGCCAGGAGGAGGGGATGCAGGGCTGGGGAGGCTGTCTGGAAGAGGGGGTGCAGAGCAGGGCTGGGGAGGCTTCCTGGAGGAGGGGGCACAGGGTAGGGCAGGGCTGAGCTGGGGGTCTGCTTGGAGGAGGGGGTGCAGGGCTGAACTAGGCTATGTGAGTCACATTTGCCACAGGACGGGAGGGCACCCTGGGCCAGCATGGACAGAGGCGGGCGGAACACAGTAGTCCTGAGCGGGAACAGCGTGGGCCCTGGCCAGCGGCCAGAGAGAGGATGACCAGCCAGGGAGGCCGAAGACGGCCGCTTTTGGGGCCAGGCCTGTGGGGAGGCGAGAGCCTTGGACTTTGAGCCCAGCCCACGCTGTTTGTCCCGGGTCCCTTATCTCTCGGGTTAGTTACTTTTCTCTCCCCCTCCCTCTATCCGAAAGTTGGATTTGCAAGAGTGGCCAGGCAAGACCTGGACTTGAGACTATCTGGGAGGGGAAGGACTGGTCCCCAGTGGGCCACACATGGGCCCCCCGCTCAATCCTGATTGGCACTGGACACTGGACGTGCCCATTTTCAGGGTGGGAACACTGAGGCCCGACCCCTGGACGGGGCCTGTGTGGGGCCAGGGAGTCCTTTCTTAGCAGCCCTTAGCGTCTGACGCCAGGCAGGCCAGGGCCACCCCGGGGACAGCTGTCTCCCTGAGCTCAGCTTTCCGAGTGCTATTCTTAGCCGGGCGAGTCGGGGCTGCTCTCCCAGGCAGGCAGAAGGGCAGCCTCTCCCTGGCACGACCCCTTCCTCCCGACCTCAGACAGGGAGCTGGGGACCCGGTTCCACCCAGTTTCACCCAGGTCTCACGTTTGAGGTCCCCATCTGGAGAGCGGGGGGCCTCACTCCCCCTGGAGAGGAAGTTTCTGGTACTTAGGCGGTGCCTAACGTGTGCGGGCCCCACGCCTGCCGCACTCCCCGTGAACGCCTCCGTGTGCCCCCACCTGCAGCCCCACTTCCCAGGCGAGGAGACAGAGGCGCCCCGGCGGGAGGGTGGGCTGCAGAGTCCCCGGGTCGGGGCAGCCCCGGCCTCAGTTTCCCCTGCGCCCCCGGGGGCGGTGCAGGCCGGGCGGGGGCTACCTTTGGAGGAGGCGGCGGCGGCCAGCGCGTGCATATAGGGGGTCTCCCAGCGCTCCATCACCGGCTTGCCCAGGATGCGCAGGTGCGTGTCCGCTGCGTCGTAGGCCGCGGGCGCCGCCCCCCACGCGGGGCTGCAGTTCTCGCCGGGCGCGAAGATGGGGGTCGCGCTGGGGGCGCTCATGCTGCAGGCTGGACGGCGACCCGACCTCGATCGCGCGCCGCCCGGGCCCGCTCCCTGCAGGGGCTTGTGGGCCGGGGGCGGGTCCAACAGGCCCGGGGGGCGGACCCGCGAGAGGACGCGCGCGCGCGGCTCCGGGAGCGGCCTCTAGCGGCGGCCACGCGAGAGGTGGCGGGAGTGGGGTCGGGGCCCCGGCCGCCCCCTCCCCAAGGAGCCTCGGTGCCCCCTCTGCGGAGCGGGCACCGCAGCCCCGCGCCCGGGGACGCGAACCTGCAGGCTGGGGACTGGAATCCCCGCCTTGCCGCTTACGCGCCATAGATTCCTCATCTGTCAGCACCGCAGAAAGGCCCCCTCCTCGCTGGGGTGTGAGAATCTGAGGATCTTCCAGGCGCTGTTGGAAGTGCTTTAAGTGTTTAAAATCATTTAATCTTCAGAAGATGCTACAGTGAGTTCTGTCTTTTTTTAATAGAGACGGGGTCTTGCTATGTTGCCCAGGTTGGTCTCAAACTCCTGGGCGCAAGCGATCCTCCCGCTTCAGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACCGCGCCCGCCAGGTTCTATGATGACTGTCGTTTTTCCTTCCTTCCTTCCTTCCTTTCTTTTTTGAAAGCAAGTTTATTAAGGAATAAAAATGAATGGCTACTCCATAGAGCAGCCGACTGTCATTTTACAGATGTGGAAACTGAGGCTTTGAGAAGCAAAGCCGGTGGTCTGGTGGCCACGAGGGTGGGGACCCAGCATTAGAGCTCTGATGCCCCCCTTTCATGAGCCCATGTCACACCCCCATAGGCTGGGGGTCATCTGAGACCCCGGGTCCCTAATGGGGGATTCCGCCCAAAGACGCCTCCAGTTCTGGAGACCAGGACTCAATCCCAGCAGTGCCCTTTCCTCCGGCGGCCCTGCAGCTGGGGTGTGCGGGGGTGGAATTAGGCCTCCCCCAGCCCAGGGTAGCCCCTTAGGGTCAAGCACACCCCCCGCCTGTTTCCTGGGGGCCCCCAAGCCCGCTGCGGTGGCGTCCTGGCTCTGATAGCCGGTTTCCTTCCCCCTCTGAACGTGGGGCCACAGTCATGAGCCCTGAGCACTGCCTGCCTGCCTGCCTGCCTGCCTGCCGTGCGTTCTGCACGGGTTAACAGATGCAGTTATTATGCCCATTTAACACGAGGGAAACTGAGGCCCAGAGAGGTTGAGGTTCACAGGTTGCAGCAGGGCCACGGTGTGAACGCAGGCAGCCTCGGAAACAGCTCCCGCGCGCGGCCTTCCCTGCGCCACCTTGTCTGGGTAGCTGCCTGCCCCATCACTGCCTGCTCAACGCCTCCACATGCCCCTGCCACCTCTTGCACAGCTCCTTAGCCCCGGGCCTTGGCACACGCTCTTCCCCTTGCCCAGACAGCCTCTCTCCTGGTCAGGCCGCTTTCTCGTTCTGTCTCAAGCTGAGCCCACGTGTCCTCTAGGAGACACCCCCATTCTGCCCCAGGACAGGCATGTCCTGGTCAGAAGCTGTTTTGTTTGTTTTTGTTTTTCTGAGACAGAGTCTCACTCTGTTGCTCAGGTTGGAGTGCAGTGGCATGATTTTGGCTCAGTGCAACCTCTGCCTCCCGGGTTCAAGCGATTCTCCTACCTCAGCCTCCTGGGTAGCTGTGATGACAGGCGCCCGCCACCAAGCCCGGCTAATTTTTTTTTTTTTTTTTTTTTTTTGTATTTTTAGTAGAAACGGGGTTTCACCATGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATTCACCCGCCTCGGCCTCCTAAAGTGCTGGGATTGCAAGGTGTGAGCCACCGCACCCACCCGGCCAGAAGCTGTTTTCTCTCTCTTTGGTAGTTCACTAACGGAAGGTATTTCTTCATGGTCCTAGCGTCCCTCTCACAGGGCTGTCAGTGATCCTGGCACACAGAACATGCTTGATAGGCTGGGTGCAGCAGCTCCCACCTGTGATC | CCCGGTGCTCCGCCATCCCACAGCCAGGCCCACACCCACTTGGGCTCTGTCCCCCCAGTGCACATCAGAGGGACCCCCACAAGCAAAGGAGGGGCTGCATTGGAGCTGGGGAGGCCCACCCTGTGATACGTCCCCTCACCCCTCACCATCAAAGTGACCGTCAGGCAGGGTGGGTGCCACATCCTCCCACAGGCCTTTCAAGGGGATGACCTTGCAGAGGGGAAAAGAAAAAGAGAGGACAGGGTAGAGAGGTCCCCAGGATCTCCCCACCTGCAGAAAGGGAGCGGCCAGGGGGACTCCCGAGAGAGAAGACCACCTCCTCCACCTCTGACAGCCCCAGGCCCCCAACCCCCAGGAAGCAGTGCCCTCACCCCAAGGAGTGGGGGTCCTGGAGGGCCTGCGGGCAGAGGGGCACCTTGTGTGTCTGCCGTGGGGCCCAGTCCCGGAGCCGCTGGAAGACGCCGTCATTGCACTCGATGATCCAATGCTCATCAATGGGCGCCTCCTGCACCTTTGACGCTGCGATGGCCATGCCAAAGCCCACCTCCAGGACCCGGCCCCCTGGGCAGACACAGGGCGCCTGGCATCACTAGGTGGGGCGGGCTTAGGAGGCTGCCTGGAGGAGGGGCACAGGGCAGGGCAGGGCTGGGGAGACTGCCTGGAGGAGGGGGCGCAGGGCTGGGCTGGGGGTCTGCCTGGAGGGGGGCGTGCAGAGCAGGGCTGGAGAGGCTGCCTGGAGGAGGGGGTGTGGGGCAATGCTGGGGAGGCTGCCTGGAGGAGGGGGTGCGGGGCAGGGCTGGAGAGGCTGCCAGGAGGAGGGGATGCAGGGCTGGGGAGGCTGTCTGGAAGAGGGGGTGCAGAGCAGGGCTGGGGAGGCTTCCTGGAGGAGGGGGCACAGGGTAGGGCAGGGCTGAGCTGGGGGTCTGCTTGGAGGAGGGGGTGCAGGGCTGAACTAGGCTATGTGAGTCACATTTGCCACAGGACGGGAGGGCACCCTGGGCCAGCATGGACAGAGGCGGGCGGAACACAGTAGTCCTGAGCGGGAACAGCGTGGGCCCTGGCCAGCGGCCAGAGAGAGGATGACCAGCCAGGGAGGCCGAAGACGGCCGCTTTTGGGGCCAGGCCTGTGGGGAGGCGAGAGCCTTGGACTTTGAGCCCAGCCCACGCTGTTTGTCCCGGGTCCCTTATCTCTCGGGTTAGTTACTTTTCTCTCCCCCTCCCTCTATCCGAAAGTTGGATTTGCAAGAGTGGCCAGGCAAGACCTGGACTTGAGACTATCTGGGAGGGGAAGGACTGGTCCCCAGTGGGCCACACATGGGCCCCCCGCTCAATCCTGATTGGCACTGGACACTGGACGTGCCCATTTTCAGGGTGGGAACACTGAGGCCCGACCCCTGGACGGGGCCTGTGTGGGGCCAGGGAGTCCTTTCTTAGCAGCCCTTAGCGTCTGACGCCAGGCAGGCCAGGGCCACCCCGGGGACAGCTGTCTCCCTGAGCTCAGCTTTCCGAGTGCTATTCTTAGCCGGGCGAGTCGGGGCTGCTCTCCCAGGCAGGCAGAAGGGCAGCCTCTCCCTGGCACGACCCCTTCCTCCCGACCTCAGACAGGGAGCTGGGGACCCGGTTCCACCCAGTTTCACCCAGGTCTCACGTTTGAGGTCCCCATCTGGAGAGCGGGGGGCCTCACTCCCCCTGGAGAGGAAGTTTCTGGTACTTAGGCGGTGCCTAACGTGTGCGGGCCCCACGCCTGCCGCACTCCCCGTGAACGCCTCCGTGTGCCCCCACCTGCAGCCCCACTTCCCAGGCGAGGAGACAGAGGCGCCCCGGCGGGAGGGTGGGCTGCAGAGTCCCCGGGTCGGGGCAGCCCCGGCCTCAGTTTCCCCTGCGCCCCCGGGGGCGGTGCAGGCCGGGCGGGGGCTACCTTTGGAGGAGGCGGCGGCGGCCAGCGCGTGCATATAGGGGGTCTCCCAGCGCTCCATCACCGGCTTGCCCAGGATGCGCAGGTGCGTGTCCGCTGCGTCGTAGGCCGCGGGCGCCGCCCCCCACGCGGGGTGCAGTTCTCGCCGGGCGCGAAGATGGGGGTCGCGCTGGGGGCGCTCATGCTGCAGGCTGGACGGCGACCCGACCTCGATCGCGCGCCGCCCGGGCCCGCTCCCTGCAGGGGCTTGTGGGCCGGGGGCGGGTCCAACAGGCCCGGGGGGCGGACCCGCGAGAGGACGCGCGCGCGCGGCTCCGGGAGCGGCCTCTAGCGGCGGCCACGCGAGAGGTGGCGGGAGTGGGGTCGGGGCCCCGGCCGCCCCCTCCCCAAGGAGCCTCGGTGCCCCCTCTGCGGAGCGGGCACCGCAGCCCCGCGCCCGGGGACGCGAACCTGCAGGCTGGGGACTGGAATCCCCGCCTTGCCGCTTACGCGCCATAGATTCCTCATCTGTCAGCACCGCAGAAAGGCCCCCTCCTCGCTGGGGTGTGAGAATCTGAGGATCTTCCAGGCGCTGTTGGAAGTGCTTTAAGTGTTTAAAATCATTTAATCTTCAGAAGATGCTACAGTGAGTTCTGTCTTTTTTTAATAGAGACGGGGTCTTGCTATGTTGCCCAGGTTGGTCTCAAACTCCTGGGCGCAAGCGATCCTCCCGCTTCAGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACCGCGCCCGCCAGGTTCTATGATGACTGTCGTTTTTCCTTCCTTCCTTCCTTCCTTTCTTTTTTGAAAGCAAGTTTATTAAGGAATAAAAATGAATGGCTACTCCATAGAGCAGCCGACTGTCATTTTACAGATGTGGAAACTGAGGCTTTGAGAAGCAAAGCCGGTGGTCTGGTGGCCACGAGGGTGGGGACCCAGCATTAGAGCTCTGATGCCCCCCTTTCATGAGCCCATGTCACACCCCCATAGGCTGGGGGTCATCTGAGACCCCGGGTCCCTAATGGGGGATTCCGCCCAAAGACGCCTCCAGTTCTGGAGACCAGGACTCAATCCCAGCAGTGCCCTTTCCTCCGGCGGCCCTGCAGCTGGGGTGTGCGGGGGTGGAATTAGGCCTCCCCCAGCCCAGGGTAGCCCCTTAGGGTCAAGCACACCCCCCGCCTGTTTCCTGGGGGCCCCCAAGCCCGCTGCGGTGGCGTCCTGGCTCTGATAGCCGGTTTCCTTCCCCCTCTGAACGTGGGGCCACAGTCATGAGCCCTGAGCACTGCCTGCCTGCCTGCCTGCCTGCCTGCCGTGCGTTCTGCACGGGTTAACAGATGCAGTTATTATGCCCATTTAACACGAGGGAAACTGAGGCCCAGAGAGGTTGAGGTTCACAGGTTGCAGCAGGGCCACGGTGTGAACGCAGGCAGCCTCGGAAACAGCTCCCGCGCGCGGCCTTCCCTGCGCCACCTTGTCTGGGTAGCTGCCTGCCCCATCACTGCCTGCTCAACGCCTCCACATGCCCCTGCCACCTCTTGCACAGCTCCTTAGCCCCGGGCCTTGGCACACGCTCTTCCCCTTGCCCAGACAGCCTCTCTCCTGGTCAGGCCGCTTTCTCGTTCTGTCTCAAGCTGAGCCCACGTGTCCTCTAGGAGACACCCCCATTCTGCCCCAGGACAGGCATGTCCTGGTCAGAAGCTGTTTTGTTTGTTTTTGTTTTTCTGAGACAGAGTCTCACTCTGTTGCTCAGGTTGGAGTGCAGTGGCATGATTTTGGCTCAGTGCAACCTCTGCCTCCCGGGTTCAAGCGATTCTCCTACCTCAGCCTCCTGGGTAGCTGTGATGACAGGCGCCCGCCACCAAGCCCGGCTAATTTTTTTTTTTTTTTTTTTTTTTTGTATTTTTAGTAGAAACGGGGTTTCACCATGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATTCACCCGCCTCGGCCTCCTAAAGTGCTGGGATTGCAAGGTGTGAGCCACCGCACCCACCCGGCCAGAAGCTGTTTTCTCTCTCTTTGGTAGTTCACTAACGGAAGGTATTTCTTCATGGTCCTAGCGTCCCTCTCACAGGGCTGTCAGTGATCCTGGCACACAGAACATGCTTGATAGGCTGGGTGCAGCAGCTCCCACCTGTGATCN | pathogenic | 293,438 |
Chromosome 19, position 1401440, gene GAMT: benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Cerebral_creatine_deficiency_syndrome', 'Deficiency_of_guanidinoacetate_methyltransferase'] | ATCCCACAGCCAGGCCCACACCCACTTGGGCTCTGTCCCCCCAGTGCACATCAGAGGGACCCCCACAAGCAAAGGAGGGGCTGCATTGGAGCTGGGGAGGCCCACCCTGTGATACGTCCCCTCACCCCTCACCATCAAAGTGACCGTCAGGCAGGGTGGGTGCCACATCCTCCCACAGGCCTTTCAAGGGGATGACCTTGCAGAGGGGAAAAGAAAAAGAGAGGACAGGGTAGAGAGGTCCCCAGGATCTCCCCACCTGCAGAAAGGGAGCGGCCAGGGGGACTCCCGAGAGAGAAGACCACCTCCTCCACCTCTGACAGCCCCAGGCCCCCAACCCCCAGGAAGCAGTGCCCTCACCCCAAGGAGTGGGGGTCCTGGAGGGCCTGCGGGCAGAGGGGCACCTTGTGTGTCTGCCGTGGGGCCCAGTCCCGGAGCCGCTGGAAGACGCCGTCATTGCACTCGATGATCCAATGCTCATCAATGGGCGCCTCCTGCACCTTTGACGCTGCGATGGCCATGCCAAAGCCCACCTCCAGGACCCGGCCCCCTGGGCAGACACAGGGCGCCTGGCATCACTAGGTGGGGCGGGCTTAGGAGGCTGCCTGGAGGAGGGGCACAGGGCAGGGCAGGGCTGGGGAGACTGCCTGGAGGAGGGGGCGCAGGGCTGGGCTGGGGGTCTGCCTGGAGGGGGGCGTGCAGAGCAGGGCTGGAGAGGCTGCCTGGAGGAGGGGGTGTGGGGCAATGCTGGGGAGGCTGCCTGGAGGAGGGGGTGCGGGGCAGGGCTGGAGAGGCTGCCAGGAGGAGGGGATGCAGGGCTGGGGAGGCTGTCTGGAAGAGGGGGTGCAGAGCAGGGCTGGGGAGGCTTCCTGGAGGAGGGGGCACAGGGTAGGGCAGGGCTGAGCTGGGGGTCTGCTTGGAGGAGGGGGTGCAGGGCTGAACTAGGCTATGTGAGTCACATTTGCCACAGGACGGGAGGGCACCCTGGGCCAGCATGGACAGAGGCGGGCGGAACACAGTAGTCCTGAGCGGGAACAGCGTGGGCCCTGGCCAGCGGCCAGAGAGAGGATGACCAGCCAGGGAGGCCGAAGACGGCCGCTTTTGGGGCCAGGCCTGTGGGGAGGCGAGAGCCTTGGACTTTGAGCCCAGCCCACGCTGTTTGTCCCGGGTCCCTTATCTCTCGGGTTAGTTACTTTTCTCTCCCCCTCCCTCTATCCGAAAGTTGGATTTGCAAGAGTGGCCAGGCAAGACCTGGACTTGAGACTATCTGGGAGGGGAAGGACTGGTCCCCAGTGGGCCACACATGGGCCCCCCGCTCAATCCTGATTGGCACTGGACACTGGACGTGCCCATTTTCAGGGTGGGAACACTGAGGCCCGACCCCTGGACGGGGCCTGTGTGGGGCCAGGGAGTCCTTTCTTAGCAGCCCTTAGCGTCTGACGCCAGGCAGGCCAGGGCCACCCCGGGGACAGCTGTCTCCCTGAGCTCAGCTTTCCGAGTGCTATTCTTAGCCGGGCGAGTCGGGGCTGCTCTCCCAGGCAGGCAGAAGGGCAGCCTCTCCCTGGCACGACCCCTTCCTCCCGACCTCAGACAGGGAGCTGGGGACCCGGTTCCACCCAGTTTCACCCAGGTCTCACGTTTGAGGTCCCCATCTGGAGAGCGGGGGGCCTCACTCCCCCTGGAGAGGAAGTTTCTGGTACTTAGGCGGTGCCTAACGTGTGCGGGCCCCACGCCTGCCGCACTCCCCGTGAACGCCTCCGTGTGCCCCCACCTGCAGCCCCACTTCCCAGGCGAGGAGACAGAGGCGCCCCGGCGGGAGGGTGGGCTGCAGAGTCCCCGGGTCGGGGCAGCCCCGGCCTCAGTTTCCCCTGCGCCCCCGGGGGCGGTGCAGGCCGGGCGGGGGCTACCTTTGGAGGAGGCGGCGGCGGCCAGCGCGTGCATATAGGGGGTCTCCCAGCGCTCCATCACCGGCTTGCCCAGGATGCGCAGGTGCGTGTCCGCTGCGTCGTAGGCCGCGGGCGCCGCCCCCCACGCGGGGCTGCAGTTCTCGCCGGGCGCGAAGATGGGGGTCGCGCTGGGGGCGCTCATGCTGCAGGCTGGACGGCGACCCGACCTCGATCGCGCGCCGCCCGGGCCCGCTCCCTGCAGGGGCTTGTGGGCCGGGGGCGGGTCCAACAGGCCCGGGGGGCGGACCCGCGAGAGGACGCGCGCGCGCGGCTCCGGGAGCGGCCTCTAGCGGCGGCCACGCGAGAGGTGGCGGGAGTGGGGTCGGGGCCCCGGCCGCCCCCTCCCCAAGGAGCCTCGGTGCCCCCTCTGCGGAGCGGGCACCGCAGCCCCGCGCCCGGGGACGCGAACCTGCAGGCTGGGGACTGGAATCCCCGCCTTGCCGCTTACGCGCCATAGATTCCTCATCTGTCAGCACCGCAGAAAGGCCCCCTCCTCGCTGGGGTGTGAGAATCTGAGGATCTTCCAGGCGCTGTTGGAAGTGCTTTAAGTGTTTAAAATCATTTAATCTTCAGAAGATGCTACAGTGAGTTCTGTCTTTTTTTAATAGAGACGGGGTCTTGCTATGTTGCCCAGGTTGGTCTCAAACTCCTGGGCGCAAGCGATCCTCCCGCTTCAGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACCGCGCCCGCCAGGTTCTATGATGACTGTCGTTTTTCCTTCCTTCCTTCCTTCCTTTCTTTTTTGAAAGCAAGTTTATTAAGGAATAAAAATGAATGGCTACTCCATAGAGCAGCCGACTGTCATTTTACAGATGTGGAAACTGAGGCTTTGAGAAGCAAAGCCGGTGGTCTGGTGGCCACGAGGGTGGGGACCCAGCATTAGAGCTCTGATGCCCCCCTTTCATGAGCCCATGTCACACCCCCATAGGCTGGGGGTCATCTGAGACCCCGGGTCCCTAATGGGGGATTCCGCCCAAAGACGCCTCCAGTTCTGGAGACCAGGACTCAATCCCAGCAGTGCCCTTTCCTCCGGCGGCCCTGCAGCTGGGGTGTGCGGGGGTGGAATTAGGCCTCCCCCAGCCCAGGGTAGCCCCTTAGGGTCAAGCACACCCCCCGCCTGTTTCCTGGGGGCCCCCAAGCCCGCTGCGGTGGCGTCCTGGCTCTGATAGCCGGTTTCCTTCCCCCTCTGAACGTGGGGCCACAGTCATGAGCCCTGAGCACTGCCTGCCTGCCTGCCTGCCTGCCTGCCGTGCGTTCTGCACGGGTTAACAGATGCAGTTATTATGCCCATTTAACACGAGGGAAACTGAGGCCCAGAGAGGTTGAGGTTCACAGGTTGCAGCAGGGCCACGGTGTGAACGCAGGCAGCCTCGGAAACAGCTCCCGCGCGCGGCCTTCCCTGCGCCACCTTGTCTGGGTAGCTGCCTGCCCCATCACTGCCTGCTCAACGCCTCCACATGCCCCTGCCACCTCTTGCACAGCTCCTTAGCCCCGGGCCTTGGCACACGCTCTTCCCCTTGCCCAGACAGCCTCTCTCCTGGTCAGGCCGCTTTCTCGTTCTGTCTCAAGCTGAGCCCACGTGTCCTCTAGGAGACACCCCCATTCTGCCCCAGGACAGGCATGTCCTGGTCAGAAGCTGTTTTGTTTGTTTTTGTTTTTCTGAGACAGAGTCTCACTCTGTTGCTCAGGTTGGAGTGCAGTGGCATGATTTTGGCTCAGTGCAACCTCTGCCTCCCGGGTTCAAGCGATTCTCCTACCTCAGCCTCCTGGGTAGCTGTGATGACAGGCGCCCGCCACCAAGCCCGGCTAATTTTTTTTTTTTTTTTTTTTTTTTGTATTTTTAGTAGAAACGGGGTTTCACCATGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATTCACCCGCCTCGGCCTCCTAAAGTGCTGGGATTGCAAGGTGTGAGCCACCGCACCCACCCGGCCAGAAGCTGTTTTCTCTCTCTTTGGTAGTTCACTAACGGAAGGTATTTCTTCATGGTCCTAGCGTCCCTCTCACAGGGCTGTCAGTGATCCTGGCACACAGAACATGCTTGATAGGCTGGGTGCAGCAGCTCCCACCTGTGATCCCAGTGCCTGGGGG | ATCCCACAGCCAGGCCCACACCCACTTGGGCTCTGTCCCCCCAGTGCACATCAGAGGGACCCCCACAAGCAAAGGAGGGGCTGCATTGGAGCTGGGGAGGCCCACCCTGTGATACGTCCCCTCACCCCTCACCATCAAAGTGACCGTCAGGCAGGGTGGGTGCCACATCCTCCCACAGGCCTTTCAAGGGGATGACCTTGCAGAGGGGAAAAGAAAAAGAGAGGACAGGGTAGAGAGGTCCCCAGGATCTCCCCACCTGCAGAAAGGGAGCGGCCAGGGGGACTCCCGAGAGAGAAGACCACCTCCTCCACCTCTGACAGCCCCAGGCCCCCAACCCCCAGGAAGCAGTGCCCTCACCCCAAGGAGTGGGGGTCCTGGAGGGCCTGCGGGCAGAGGGGCACCTTGTGTGTCTGCCGTGGGGCCCAGTCCCGGAGCCGCTGGAAGACGCCGTCATTGCACTCGATGATCCAATGCTCATCAATGGGCGCCTCCTGCACCTTTGACGCTGCGATGGCCATGCCAAAGCCCACCTCCAGGACCCGGCCCCCTGGGCAGACACAGGGCGCCTGGCATCACTAGGTGGGGCGGGCTTAGGAGGCTGCCTGGAGGAGGGGCACAGGGCAGGGCAGGGCTGGGGAGACTGCCTGGAGGAGGGGGCGCAGGGCTGGGCTGGGGGTCTGCCTGGAGGGGGGCGTGCAGAGCAGGGCTGGAGAGGCTGCCTGGAGGAGGGGGTGTGGGGCAATGCTGGGGAGGCTGCCTGGAGGAGGGGGTGCGGGGCAGGGCTGGAGAGGCTGCCAGGAGGAGGGGATGCAGGGCTGGGGAGGCTGTCTGGAAGAGGGGGTGCAGAGCAGGGCTGGGGAGGCTTCCTGGAGGAGGGGGCACAGGGTAGGGCAGGGCTGAGCTGGGGGTCTGCTTGGAGGAGGGGGTGCAGGGCTGAACTAGGCTATGTGAGTCACATTTGCCACAGGACGGGAGGGCACCCTGGGCCAGCATGGACAGAGGCGGGCGGAACACAGTAGTCCTGAGCGGGAACAGCGTGGGCCCTGGCCAGCGGCCAGAGAGAGGATGACCAGCCAGGGAGGCCGAAGACGGCCGCTTTTGGGGCCAGGCCTGTGGGGAGGCGAGAGCCTTGGACTTTGAGCCCAGCCCACGCTGTTTGTCCCGGGTCCCTTATCTCTCGGGTTAGTTACTTTTCTCTCCCCCTCCCTCTATCCGAAAGTTGGATTTGCAAGAGTGGCCAGGCAAGACCTGGACTTGAGACTATCTGGGAGGGGAAGGACTGGTCCCCAGTGGGCCACACATGGGCCCCCCGCTCAATCCTGATTGGCACTGGACACTGGACGTGCCCATTTTCAGGGTGGGAACACTGAGGCCCGACCCCTGGACGGGGCCTGTGTGGGGCCAGGGAGTCCTTTCTTAGCAGCCCTTAGCGTCTGACGCCAGGCAGGCCAGGGCCACCCCGGGGACAGCTGTCTCCCTGAGCTCAGCTTTCCGAGTGCTATTCTTAGCCGGGCGAGTCGGGGCTGCTCTCCCAGGCAGGCAGAAGGGCAGCCTCTCCCTGGCACGACCCCTTCCTCCCGACCTCAGACAGGGAGCTGGGGACCCGGTTCCACCCAGTTTCACCCAGGTCTCACGTTTGAGGTCCCCATCTGGAGAGCGGGGGGCCTCACTCCCCCTGGAGAGGAAGTTTCTGGTACTTAGGCGGTGCCTAACGTGTGCGGGCCCCACGCCTGCCGCACTCCCCGTGAACGCCTCCGTGTGCCCCCACCTGCAGCCCCACTTCCCAGGCGAGGAGACAGAGGCGCCCCGGCGGGAGGGTGGGCTGCAGAGTCCCCGGGTCGGGGCAGCCCCGGCCTCAGTTTCCCCTGCGCCCCCGGGGGCGGTGCAGGCCGGGCGGGGGCTACCTTTGGAGGAGGCGGCGGCGGCCAGCGCGTGCATATAGGGGGTCTCCCAGCGCTCCATCACCGGCTTGCCCAGGATGCGCAGGTGCGTGTCCGCTGCGTCGTAGGCCGCGGGCGCCGCCCCCCACGCGGGGCTGCAGTTCTCGCCGGGCGCGAAGATGGGGGTCGCGCTGGGGGCGCGAAGATGGGGGTCGCGCTGGGGGCGCTCATGCTGCAGGCTGGACGGCGACCCGACCTCGATCGCGCGCCGCCCGGGCCCGCTCCCTGCAGGGGCTTGTGGGCCGGGGGCGGGTCCAACAGGCCCGGGGGGCGGACCCGCGAGAGGACGCGCGCGCGCGGCTCCGGGAGCGGCCTCTAGCGGCGGCCACGCGAGAGGTGGCGGGAGTGGGGTCGGGGCCCCGGCCGCCCCCTCCCCAAGGAGCCTCGGTGCCCCCTCTGCGGAGCGGGCACCGCAGCCCCGCGCCCGGGGACGCGAACCTGCAGGCTGGGGACTGGAATCCCCGCCTTGCCGCTTACGCGCCATAGATTCCTCATCTGTCAGCACCGCAGAAAGGCCCCCTCCTCGCTGGGGTGTGAGAATCTGAGGATCTTCCAGGCGCTGTTGGAAGTGCTTTAAGTGTTTAAAATCATTTAATCTTCAGAAGATGCTACAGTGAGTTCTGTCTTTTTTTAATAGAGACGGGGTCTTGCTATGTTGCCCAGGTTGGTCTCAAACTCCTGGGCGCAAGCGATCCTCCCGCTTCAGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACCGCGCCCGCCAGGTTCTATGATGACTGTCGTTTTTCCTTCCTTCCTTCCTTCCTTTCTTTTTTGAAAGCAAGTTTATTAAGGAATAAAAATGAATGGCTACTCCATAGAGCAGCCGACTGTCATTTTACAGATGTGGAAACTGAGGCTTTGAGAAGCAAAGCCGGTGGTCTGGTGGCCACGAGGGTGGGGACCCAGCATTAGAGCTCTGATGCCCCCCTTTCATGAGCCCATGTCACACCCCCATAGGCTGGGGGTCATCTGAGACCCCGGGTCCCTAATGGGGGATTCCGCCCAAAGACGCCTCCAGTTCTGGAGACCAGGACTCAATCCCAGCAGTGCCCTTTCCTCCGGCGGCCCTGCAGCTGGGGTGTGCGGGGGTGGAATTAGGCCTCCCCCAGCCCAGGGTAGCCCCTTAGGGTCAAGCACACCCCCCGCCTGTTTCCTGGGGGCCCCCAAGCCCGCTGCGGTGGCGTCCTGGCTCTGATAGCCGGTTTCCTTCCCCCTCTGAACGTGGGGCCACAGTCATGAGCCCTGAGCACTGCCTGCCTGCCTGCCTGCCTGCCTGCCGTGCGTTCTGCACGGGTTAACAGATGCAGTTATTATGCCCATTTAACACGAGGGAAACTGAGGCCCAGAGAGGTTGAGGTTCACAGGTTGCAGCAGGGCCACGGTGTGAACGCAGGCAGCCTCGGAAACAGCTCCCGCGCGCGGCCTTCCCTGCGCCACCTTGTCTGGGTAGCTGCCTGCCCCATCACTGCCTGCTCAACGCCTCCACATGCCCCTGCCACCTCTTGCACAGCTCCTTAGCCCCGGGCCTTGGCACACGCTCTTCCCCTTGCCCAGACAGCCTCTCTCCTGGTCAGGCCGCTTTCTCGTTCTGTCTCAAGCTGAGCCCACGTGTCCTCTAGGAGACACCCCCATTCTGCCCCAGGACAGGCATGTCCTGGTCAGAAGCTGTTTTGTTTGTTTTTGTTTTTCTGAGACAGAGTCTCACTCTGTTGCTCAGGTTGGAGTGCAGTGGCATGATTTTGGCTCAGTGCAACCTCTGCCTCCCGGGTTCAAGCGATTCTCCTACCTCAGCCTCCTGGGTAGCTGTGATGACAGGCGCCCGCCACCAAGCCCGGCTAATTTTTTTTTTTTTTTTTTTTTTTTGTATTTTTAGTAGAAACGGGGTTTCACCATGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATTCACCCGCCTCGGCCTCCTAAAGTGCTGGGATTGCAAGGTGTGAGCCACCGCACCCACCCGGCCAGAAGCTGTTTTCTCTCTCTTTGGTAGTTCACTAACGGAAGGTATTTCTTCATGGTCCTAGCGTCCCTCTCACAGGGCTGTCAGTGATCCTGGCACACAGAACATGCTTGATAGGCTGGGTGCAGCAGCTC | pathogenic | 293,441 |
Considering the variant on chromosome 19, location 1401452, involving gene GAMT, would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Cerebral_creatine_deficiency_syndrome', 'Deficiency_of_guanidinoacetate_methyltransferase', 'GAMT-related_disorder', 'Inborn_genetic_diseases'] | GGCCCACACCCACTTGGGCTCTGTCCCCCCAGTGCACATCAGAGGGACCCCCACAAGCAAAGGAGGGGCTGCATTGGAGCTGGGGAGGCCCACCCTGTGATACGTCCCCTCACCCCTCACCATCAAAGTGACCGTCAGGCAGGGTGGGTGCCACATCCTCCCACAGGCCTTTCAAGGGGATGACCTTGCAGAGGGGAAAAGAAAAAGAGAGGACAGGGTAGAGAGGTCCCCAGGATCTCCCCACCTGCAGAAAGGGAGCGGCCAGGGGGACTCCCGAGAGAGAAGACCACCTCCTCCACCTCTGACAGCCCCAGGCCCCCAACCCCCAGGAAGCAGTGCCCTCACCCCAAGGAGTGGGGGTCCTGGAGGGCCTGCGGGCAGAGGGGCACCTTGTGTGTCTGCCGTGGGGCCCAGTCCCGGAGCCGCTGGAAGACGCCGTCATTGCACTCGATGATCCAATGCTCATCAATGGGCGCCTCCTGCACCTTTGACGCTGCGATGGCCATGCCAAAGCCCACCTCCAGGACCCGGCCCCCTGGGCAGACACAGGGCGCCTGGCATCACTAGGTGGGGCGGGCTTAGGAGGCTGCCTGGAGGAGGGGCACAGGGCAGGGCAGGGCTGGGGAGACTGCCTGGAGGAGGGGGCGCAGGGCTGGGCTGGGGGTCTGCCTGGAGGGGGGCGTGCAGAGCAGGGCTGGAGAGGCTGCCTGGAGGAGGGGGTGTGGGGCAATGCTGGGGAGGCTGCCTGGAGGAGGGGGTGCGGGGCAGGGCTGGAGAGGCTGCCAGGAGGAGGGGATGCAGGGCTGGGGAGGCTGTCTGGAAGAGGGGGTGCAGAGCAGGGCTGGGGAGGCTTCCTGGAGGAGGGGGCACAGGGTAGGGCAGGGCTGAGCTGGGGGTCTGCTTGGAGGAGGGGGTGCAGGGCTGAACTAGGCTATGTGAGTCACATTTGCCACAGGACGGGAGGGCACCCTGGGCCAGCATGGACAGAGGCGGGCGGAACACAGTAGTCCTGAGCGGGAACAGCGTGGGCCCTGGCCAGCGGCCAGAGAGAGGATGACCAGCCAGGGAGGCCGAAGACGGCCGCTTTTGGGGCCAGGCCTGTGGGGAGGCGAGAGCCTTGGACTTTGAGCCCAGCCCACGCTGTTTGTCCCGGGTCCCTTATCTCTCGGGTTAGTTACTTTTCTCTCCCCCTCCCTCTATCCGAAAGTTGGATTTGCAAGAGTGGCCAGGCAAGACCTGGACTTGAGACTATCTGGGAGGGGAAGGACTGGTCCCCAGTGGGCCACACATGGGCCCCCCGCTCAATCCTGATTGGCACTGGACACTGGACGTGCCCATTTTCAGGGTGGGAACACTGAGGCCCGACCCCTGGACGGGGCCTGTGTGGGGCCAGGGAGTCCTTTCTTAGCAGCCCTTAGCGTCTGACGCCAGGCAGGCCAGGGCCACCCCGGGGACAGCTGTCTCCCTGAGCTCAGCTTTCCGAGTGCTATTCTTAGCCGGGCGAGTCGGGGCTGCTCTCCCAGGCAGGCAGAAGGGCAGCCTCTCCCTGGCACGACCCCTTCCTCCCGACCTCAGACAGGGAGCTGGGGACCCGGTTCCACCCAGTTTCACCCAGGTCTCACGTTTGAGGTCCCCATCTGGAGAGCGGGGGGCCTCACTCCCCCTGGAGAGGAAGTTTCTGGTACTTAGGCGGTGCCTAACGTGTGCGGGCCCCACGCCTGCCGCACTCCCCGTGAACGCCTCCGTGTGCCCCCACCTGCAGCCCCACTTCCCAGGCGAGGAGACAGAGGCGCCCCGGCGGGAGGGTGGGCTGCAGAGTCCCCGGGTCGGGGCAGCCCCGGCCTCAGTTTCCCCTGCGCCCCCGGGGGCGGTGCAGGCCGGGCGGGGGCTACCTTTGGAGGAGGCGGCGGCGGCCAGCGCGTGCATATAGGGGGTCTCCCAGCGCTCCATCACCGGCTTGCCCAGGATGCGCAGGTGCGTGTCCGCTGCGTCGTAGGCCGCGGGCGCCGCCCCCCACGCGGGGCTGCAGTTCTCGCCGGGCGCGAAGATGGGGGTCGCGCTGGGGGCGCTCATGCTGCAGGCTGGACGGCGACCCGACCTCGATCGCGCGCCGCCCGGGCCCGCTCCCTGCAGGGGCTTGTGGGCCGGGGGCGGGTCCAACAGGCCCGGGGGGCGGACCCGCGAGAGGACGCGCGCGCGCGGCTCCGGGAGCGGCCTCTAGCGGCGGCCACGCGAGAGGTGGCGGGAGTGGGGTCGGGGCCCCGGCCGCCCCCTCCCCAAGGAGCCTCGGTGCCCCCTCTGCGGAGCGGGCACCGCAGCCCCGCGCCCGGGGACGCGAACCTGCAGGCTGGGGACTGGAATCCCCGCCTTGCCGCTTACGCGCCATAGATTCCTCATCTGTCAGCACCGCAGAAAGGCCCCCTCCTCGCTGGGGTGTGAGAATCTGAGGATCTTCCAGGCGCTGTTGGAAGTGCTTTAAGTGTTTAAAATCATTTAATCTTCAGAAGATGCTACAGTGAGTTCTGTCTTTTTTTAATAGAGACGGGGTCTTGCTATGTTGCCCAGGTTGGTCTCAAACTCCTGGGCGCAAGCGATCCTCCCGCTTCAGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACCGCGCCCGCCAGGTTCTATGATGACTGTCGTTTTTCCTTCCTTCCTTCCTTCCTTTCTTTTTTGAAAGCAAGTTTATTAAGGAATAAAAATGAATGGCTACTCCATAGAGCAGCCGACTGTCATTTTACAGATGTGGAAACTGAGGCTTTGAGAAGCAAAGCCGGTGGTCTGGTGGCCACGAGGGTGGGGACCCAGCATTAGAGCTCTGATGCCCCCCTTTCATGAGCCCATGTCACACCCCCATAGGCTGGGGGTCATCTGAGACCCCGGGTCCCTAATGGGGGATTCCGCCCAAAGACGCCTCCAGTTCTGGAGACCAGGACTCAATCCCAGCAGTGCCCTTTCCTCCGGCGGCCCTGCAGCTGGGGTGTGCGGGGGTGGAATTAGGCCTCCCCCAGCCCAGGGTAGCCCCTTAGGGTCAAGCACACCCCCCGCCTGTTTCCTGGGGGCCCCCAAGCCCGCTGCGGTGGCGTCCTGGCTCTGATAGCCGGTTTCCTTCCCCCTCTGAACGTGGGGCCACAGTCATGAGCCCTGAGCACTGCCTGCCTGCCTGCCTGCCTGCCTGCCGTGCGTTCTGCACGGGTTAACAGATGCAGTTATTATGCCCATTTAACACGAGGGAAACTGAGGCCCAGAGAGGTTGAGGTTCACAGGTTGCAGCAGGGCCACGGTGTGAACGCAGGCAGCCTCGGAAACAGCTCCCGCGCGCGGCCTTCCCTGCGCCACCTTGTCTGGGTAGCTGCCTGCCCCATCACTGCCTGCTCAACGCCTCCACATGCCCCTGCCACCTCTTGCACAGCTCCTTAGCCCCGGGCCTTGGCACACGCTCTTCCCCTTGCCCAGACAGCCTCTCTCCTGGTCAGGCCGCTTTCTCGTTCTGTCTCAAGCTGAGCCCACGTGTCCTCTAGGAGACACCCCCATTCTGCCCCAGGACAGGCATGTCCTGGTCAGAAGCTGTTTTGTTTGTTTTTGTTTTTCTGAGACAGAGTCTCACTCTGTTGCTCAGGTTGGAGTGCAGTGGCATGATTTTGGCTCAGTGCAACCTCTGCCTCCCGGGTTCAAGCGATTCTCCTACCTCAGCCTCCTGGGTAGCTGTGATGACAGGCGCCCGCCACCAAGCCCGGCTAATTTTTTTTTTTTTTTTTTTTTTTTGTATTTTTAGTAGAAACGGGGTTTCACCATGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATTCACCCGCCTCGGCCTCCTAAAGTGCTGGGATTGCAAGGTGTGAGCCACCGCACCCACCCGGCCAGAAGCTGTTTTCTCTCTCTTTGGTAGTTCACTAACGGAAGGTATTTCTTCATGGTCCTAGCGTCCCTCTCACAGGGCTGTCAGTGATCCTGGCACACAGAACATGCTTGATAGGCTGGGTGCAGCAGCTCCCACCTGTGATCCCAGTGCCTGGGGGAGGTGCAGGGGC | GGCCCACACCCACTTGGGCTCTGTCCCCCCAGTGCACATCAGAGGGACCCCCACAAGCAAAGGAGGGGCTGCATTGGAGCTGGGGAGGCCCACCCTGTGATACGTCCCCTCACCCCTCACCATCAAAGTGACCGTCAGGCAGGGTGGGTGCCACATCCTCCCACAGGCCTTTCAAGGGGATGACCTTGCAGAGGGGAAAAGAAAAAGAGAGGACAGGGTAGAGAGGTCCCCAGGATCTCCCCACCTGCAGAAAGGGAGCGGCCAGGGGGACTCCCGAGAGAGAAGACCACCTCCTCCACCTCTGACAGCCCCAGGCCCCCAACCCCCAGGAAGCAGTGCCCTCACCCCAAGGAGTGGGGGTCCTGGAGGGCCTGCGGGCAGAGGGGCACCTTGTGTGTCTGCCGTGGGGCCCAGTCCCGGAGCCGCTGGAAGACGCCGTCATTGCACTCGATGATCCAATGCTCATCAATGGGCGCCTCCTGCACCTTTGACGCTGCGATGGCCATGCCAAAGCCCACCTCCAGGACCCGGCCCCCTGGGCAGACACAGGGCGCCTGGCATCACTAGGTGGGGCGGGCTTAGGAGGCTGCCTGGAGGAGGGGCACAGGGCAGGGCAGGGCTGGGGAGACTGCCTGGAGGAGGGGGCGCAGGGCTGGGCTGGGGGTCTGCCTGGAGGGGGGCGTGCAGAGCAGGGCTGGAGAGGCTGCCTGGAGGAGGGGGTGTGGGGCAATGCTGGGGAGGCTGCCTGGAGGAGGGGGTGCGGGGCAGGGCTGGAGAGGCTGCCAGGAGGAGGGGATGCAGGGCTGGGGAGGCTGTCTGGAAGAGGGGGTGCAGAGCAGGGCTGGGGAGGCTTCCTGGAGGAGGGGGCACAGGGTAGGGCAGGGCTGAGCTGGGGGTCTGCTTGGAGGAGGGGGTGCAGGGCTGAACTAGGCTATGTGAGTCACATTTGCCACAGGACGGGAGGGCACCCTGGGCCAGCATGGACAGAGGCGGGCGGAACACAGTAGTCCTGAGCGGGAACAGCGTGGGCCCTGGCCAGCGGCCAGAGAGAGGATGACCAGCCAGGGAGGCCGAAGACGGCCGCTTTTGGGGCCAGGCCTGTGGGGAGGCGAGAGCCTTGGACTTTGAGCCCAGCCCACGCTGTTTGTCCCGGGTCCCTTATCTCTCGGGTTAGTTACTTTTCTCTCCCCCTCCCTCTATCCGAAAGTTGGATTTGCAAGAGTGGCCAGGCAAGACCTGGACTTGAGACTATCTGGGAGGGGAAGGACTGGTCCCCAGTGGGCCACACATGGGCCCCCCGCTCAATCCTGATTGGCACTGGACACTGGACGTGCCCATTTTCAGGGTGGGAACACTGAGGCCCGACCCCTGGACGGGGCCTGTGTGGGGCCAGGGAGTCCTTTCTTAGCAGCCCTTAGCGTCTGACGCCAGGCAGGCCAGGGCCACCCCGGGGACAGCTGTCTCCCTGAGCTCAGCTTTCCGAGTGCTATTCTTAGCCGGGCGAGTCGGGGCTGCTCTCCCAGGCAGGCAGAAGGGCAGCCTCTCCCTGGCACGACCCCTTCCTCCCGACCTCAGACAGGGAGCTGGGGACCCGGTTCCACCCAGTTTCACCCAGGTCTCACGTTTGAGGTCCCCATCTGGAGAGCGGGGGGCCTCACTCCCCCTGGAGAGGAAGTTTCTGGTACTTAGGCGGTGCCTAACGTGTGCGGGCCCCACGCCTGCCGCACTCCCCGTGAACGCCTCCGTGTGCCCCCACCTGCAGCCCCACTTCCCAGGCGAGGAGACAGAGGCGCCCCGGCGGGAGGGTGGGCTGCAGAGTCCCCGGGTCGGGGCAGCCCCGGCCTCAGTTTCCCCTGCGCCCCCGGGGGCGGTGCAGGCCGGGCGGGGGCTACCTTTGGAGGAGGCGGCGGCGGCCAGCGCGTGCATATAGGGGGTCTCCCAGCGCTCCATCACCGGCTTGCCCAGGATGCGCAGGTGCGTGTCCGCTGCGTCGTAGGCCGCGGGCGCCGCCCCCCACGCGGGGCTGCAGTTCTCGCCGGGCGCGAAGATGGGGTCGCGCTGGGGGCGCTCATGCTGCAGGCTGGACGGCGACCCGACCTCGATCGCGCGCCGCCCGGGCCCGCTCCCTGCAGGGGCTTGTGGGCCGGGGGCGGGTCCAACAGGCCCGGGGGGCGGACCCGCGAGAGGACGCGCGCGCGCGGCTCCGGGAGCGGCCTCTAGCGGCGGCCACGCGAGAGGTGGCGGGAGTGGGGTCGGGGCCCCGGCCGCCCCCTCCCCAAGGAGCCTCGGTGCCCCCTCTGCGGAGCGGGCACCGCAGCCCCGCGCCCGGGGACGCGAACCTGCAGGCTGGGGACTGGAATCCCCGCCTTGCCGCTTACGCGCCATAGATTCCTCATCTGTCAGCACCGCAGAAAGGCCCCCTCCTCGCTGGGGTGTGAGAATCTGAGGATCTTCCAGGCGCTGTTGGAAGTGCTTTAAGTGTTTAAAATCATTTAATCTTCAGAAGATGCTACAGTGAGTTCTGTCTTTTTTTAATAGAGACGGGGTCTTGCTATGTTGCCCAGGTTGGTCTCAAACTCCTGGGCGCAAGCGATCCTCCCGCTTCAGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACCGCGCCCGCCAGGTTCTATGATGACTGTCGTTTTTCCTTCCTTCCTTCCTTCCTTTCTTTTTTGAAAGCAAGTTTATTAAGGAATAAAAATGAATGGCTACTCCATAGAGCAGCCGACTGTCATTTTACAGATGTGGAAACTGAGGCTTTGAGAAGCAAAGCCGGTGGTCTGGTGGCCACGAGGGTGGGGACCCAGCATTAGAGCTCTGATGCCCCCCTTTCATGAGCCCATGTCACACCCCCATAGGCTGGGGGTCATCTGAGACCCCGGGTCCCTAATGGGGGATTCCGCCCAAAGACGCCTCCAGTTCTGGAGACCAGGACTCAATCCCAGCAGTGCCCTTTCCTCCGGCGGCCCTGCAGCTGGGGTGTGCGGGGGTGGAATTAGGCCTCCCCCAGCCCAGGGTAGCCCCTTAGGGTCAAGCACACCCCCCGCCTGTTTCCTGGGGGCCCCCAAGCCCGCTGCGGTGGCGTCCTGGCTCTGATAGCCGGTTTCCTTCCCCCTCTGAACGTGGGGCCACAGTCATGAGCCCTGAGCACTGCCTGCCTGCCTGCCTGCCTGCCTGCCGTGCGTTCTGCACGGGTTAACAGATGCAGTTATTATGCCCATTTAACACGAGGGAAACTGAGGCCCAGAGAGGTTGAGGTTCACAGGTTGCAGCAGGGCCACGGTGTGAACGCAGGCAGCCTCGGAAACAGCTCCCGCGCGCGGCCTTCCCTGCGCCACCTTGTCTGGGTAGCTGCCTGCCCCATCACTGCCTGCTCAACGCCTCCACATGCCCCTGCCACCTCTTGCACAGCTCCTTAGCCCCGGGCCTTGGCACACGCTCTTCCCCTTGCCCAGACAGCCTCTCTCCTGGTCAGGCCGCTTTCTCGTTCTGTCTCAAGCTGAGCCCACGTGTCCTCTAGGAGACACCCCCATTCTGCCCCAGGACAGGCATGTCCTGGTCAGAAGCTGTTTTGTTTGTTTTTGTTTTTCTGAGACAGAGTCTCACTCTGTTGCTCAGGTTGGAGTGCAGTGGCATGATTTTGGCTCAGTGCAACCTCTGCCTCCCGGGTTCAAGCGATTCTCCTACCTCAGCCTCCTGGGTAGCTGTGATGACAGGCGCCCGCCACCAAGCCCGGCTAATTTTTTTTTTTTTTTTTTTTTTTTGTATTTTTAGTAGAAACGGGGTTTCACCATGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATTCACCCGCCTCGGCCTCCTAAAGTGCTGGGATTGCAAGGTGTGAGCCACCGCACCCACCCGGCCAGAAGCTGTTTTCTCTCTCTTTGGTAGTTCACTAACGGAAGGTATTTCTTCATGGTCCTAGCGTCCCTCTCACAGGGCTGTCAGTGATCCTGGCACACAGAACATGCTTGATAGGCTGGGTGCAGCAGCTCCCACCTGTGATCCCAGTGCCTGGGGGAGGTGCAGGGGCN | pathogenic | 293,442 |
Is the variant located on chromosome 19 at position 1621908, gene TCF3 (transcription factor 3), benign or pathogenic? If pathogenic, specify the disease(s) linked. | benign | GGGAGTGGGGACGTGAATGGGGTGCGAGGGGCGGGGTGTGAGCATGGCCTGATGCCCATGGGGAGGGATTCATGAACCACCCCGCCTGTCCAGCCTCCGGTGATGCCCAAGATGGCCATTCCGGGGCACCCCACACTGATGCAAAGCTGCTCGGCCCCGCCAGGCAGGGATGCTGGGTGCCCAGTGGGTACTGCCATTCCTATCTCTGAGCCTCAGTTTCCCCATCTACAAAATCCAACTCCCCACTCAGAGGATAAAGTGGCTCGGCAGCACACAGTAGGGGGCTCCTCCCCATGCTGCCCCACCCTGGCTGACCCACGCTGGGCTCCAGCAGCAGGCAAGAAAGTGGCAAGCTCCAGGTGGGACCAGACAGGCCGAGGTGAAGTGAGGGTTCCTGGCGCTTCCCATGGGGGCAGAGATGAGGACTCACGGGTGTTTTTAAACACCCAGACCTTCTGGAAACCTCCAGTTCTCACTCCCCCTCCTCCTGTACCTGCCCCCGACCCCCTGCGGATAAGCAAGCACGTCCTCACAGGGATAGGAGGGTCTGCCCTCCCATGCCGGAGCACCGCACAGGGTAAACAGTCAGTACCTAATAAATACCCAGTGGGTGAGCAAATGGCAACACGCACACATTCTAGAGTCCAGGCCACAGCCCTGGCGATGCTGGCCCCATCGGACCTGGGAGCTGCTAGGCACGCCAATGTCCCCTCATGTTCACGCAGTGTGAACTGCCAGGTCCTGCCTCCTGGCTTTGCCTGTGCTGTGACCTAACCTGGACGCCACCTCCCAGCCCTCCCTCACTGCCTGGTTATGTGCTATAGCCTTGGAGGGCTGGCTTGGAGGCTGCCTCCACTAGGCAGCTTTCCTGGATTGCCCAGTGGAACACAAGCCCATGGGGGACTCCCTTCCACCGTCGGTTCCTGACCAGCGATGCCACGGGCCCTTGGGGGCCATCTGCTCCCTCCCCGCTGCCTGCCTATCCCAGCAAGGTGCAGACACCAGAACCAGCCTCCCCTCCCCCGCAAAGCCTTCACAGACCTCAGCCTCCCCTCCCCCCAAACCCTCACAGACCTCAGCCTCCCCTCCCCCCAAAACCCTCACAGACCTGCCAGGCCCTGGGGGGAGCCCACGGGGGTAGAAGGGCTGGACGAGAAGTTATTGCTTGAGTGATCCGGGGAGTAGATCTGCGAGGAGGACCAGGAGAGATGGGCGGTCAGGGGCCGGCCTCTCAGGTCACTTGCCTGGCCACCCCCCATGCCCCACGCCTCACCGAGGCCAGTGCTTTGCCGAGGGCATCCCCGGAGCTGCCAGCTGTGGTCCCTCGGGAGCCTGTGGGTGAAGAGAGGTGAGGCCCACGCAGCCCGGCCTGGGTGCTGCCGCCGACGGCAAGCTCTCCTGCGTTCTGCCGTCCTGCACAGACACTGCTGCGCCAGGGAGAGCAGCCTGACTCGGGTCCGGTTTCTGTCTGACCCCCTGAAACCAGCCTCTGCAGGGGTTGAGGCACTGGGGACAGGCCACTGGCAGGGGACCCTGGGTGGGTGAGTCCCCTTCTGGGCCTGGGTGGGTGAGTCCCCCTCTGGGCCTGGATGGGTGAGTCCCTCTCTGGGCCTGGGTAACTGAGTCCCTCTCTGGGCCTGGGTGGGTGAGTCCCTCTCTGGGCCTGGGTGGGTGAGTCCCTCTCTGACCCTGGGTGGGTGAGTCCCTCTCTGACCCTGGGTGGGTGAGTCCCTCTCTGAGCCTCTTTCCCAGCTGTAAGGCGGGAAAGCCGCTCCTCAAAGATCTGTTTCCAGACATCCCAAGCCCAACGCACGTGGCAGGCCCTGCAGACAGCGGACAATGAGAACTGACAACAACCCGCTCTCAGGGCCAGCAGACGCGCCTGCGCCTCCCGTGGAGTCCTCGCCACCCCCCACCCAGACCCTGCCTGGAGCCCAGTGTCCCCTCGGAGAGGCCGCATCCCAGGGAGGGGCCATACCCAGGAGGCTGTCGGCCCCGCTGACAGGCGGCGTGTGGCTGGAGACGCCGCCGTACGTGGCTCCGGGGGCTGAGGAGAAGGAGGATGCAGATGGGAGCCCACCGTTCACCTCTGCTCCATGCAGCTGGTAGCCCTGGGGGGTCAGGCAGGAGGAGGGTGGGTTAGATGGGCACTGCCACCCTCCGCCCACCCCCTGCCCCCTGCCCTGGGTCCTACCATACGCTCGTGCTGGTGCAGGCCACCAAACGTGCTGCTGCTTCCACTGCTGCCCACCGGGCCGCTACCGGGCGGGAGGGGCAGCGGGGATGAGCCCCCACCCAGCATGGGCCCGAAGCCCGCCTGGCCCGGGGGACTCCAGAGCTCGGCTGAGGGGTGCAGGCTGCCATCTGTGGAGGGGAGCTGGTAAGGTGGGGGCCGAGTGGGGAACCCCAGCCCTGCCCTACCGTCCCTGGCGAGCCCCCGCCCTGCCATGTACCTGCCACGTAGAAGGGGGCGGGATAGGTGCTGCTGGGGGTCTTGGCGGACGGGTAGGCGGTGGCATCCCTGCCGTAGTCCTCACCTGAGCTGGGTGGGTACACCTGCGGGCGGGTGGGCGGTGGGGGGTGCAGTCAGGACGGAGGGACCACGATCAGCCCATGCACCTTGCCGGCCTCCTGTCCCCTCCTGGTAGCACATCTACCACCCCGTTTCCCTTCCCTGTAAAGCCACCCCCCTTTAGGTAAATCCCAGCCCCTGGCCAAGTTTGAGGTTCTTATGATGTCCTGGTCTCTCTCTCCTACTCCTTTTCCAGCCCCCACCTCCCGCCTCCCTGAACTTCTGACCTTTGTACTTGAGGACTTGGATCTGGCTCTGCCTACTAAACCTTTTTCCTCCTTAATCCAGAAAACTCCTATCGACCCATCAAAACCCCAGCTCCAACACCCCATCCCATCCTTCTCCCTTGTTCCCCAGCTGGAATCAATCTTCCAGTGCTGAGCTTCCCTTGGTCCCAGAGCAACATTCGTCCTTCACTAAAGTAACAGGAAGAGGGGTCTGTGAGTAGCGCCAGCTCTGACTGGTTGGCACTGCCTGGACTGTGGGGCTGGGGCCTGTTGGTAACGTCTGCTGCTGTGCTGGAGCGGGAAGTATGCTGGGTGGGCCTGATGTTGTAATAAACTGGGGGGCGGTTTCAGGGCAGAGAAAGTGCACCCTGGGGAAGGAGGGGAGTGAGTGATACTGTTGGGAGCAGAGCCTGACCACGCCTTTGGCCTGGGAAGTCAACCTGACTCTAACCCCGAACCCAGGCCTGTGGGGAGCTGGTCGGCTGGAGGGGTGAGGAGATGTATGCCCAGGGCTCTTGGGGCCAGCACAGGCACTGGGCAGAGGGTGGTTGGTGGCTACTGAGCCAGGGAATCGGCAAATTCCCTCTCCCTCCAGCGAGATGAGACCGCAGGAGTGTGGCACAGCAGCCTGGACCATCTGCGAGGCCTGGTAGGGAGGCAGGGATGCGGGGCAGCCTGAAGCTGTGAGGATGTAACAGGGAGCCCCAATTGCGGCACCCCCCGCTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTTGCTCAGGCTGGAGGGCAGCGGCATGATCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAACGATTCTTCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACGCACCACCACGCCCGGCTGATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGACTAGGCTGATCTAGAACTCCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGCGCTGGGATGACAGGCATGAGCCACCACACCCAGCACAATTGTGCCCTTTCTAAAGGGGCCTCAGCCACCAGGACTGCCTTTCTCTCAAAACAAGACAGACAGAGGCTGGACCTAGGGAAGGACTTCCCCGCCTTCCCTTGGAGGCGGCCTCGGGTCAGAGCTCAGATCTTGGCTCAGAAATCACAGGGGGCCTGTCCACTCAGGGCCCACCCCGCCATGTGTGTTCCCAAGCTTCGCCAGGACACAGGGCCTGGCACTGCCACTGACGAGCTGTGGGGTCCCTTCTCCCTCGTGCGACTCACCGAGG | GGGAGTGGGGACGTGAATGGGGTGCGAGGGGCGGGGTGTGAGCATGGCCTGATGCCCATGGGGAGGGATTCATGAACCACCCCGCCTGTCCAGCCTCCGGTGATGCCCAAGATGGCCATTCCGGGGCACCCCACACTGATGCAAAGCTGCTCGGCCCCGCCAGGCAGGGATGCTGGGTGCCCAGTGGGTACTGCCATTCCTATCTCTGAGCCTCAGTTTCCCCATCTACAAAATCCAACTCCCCACTCAGAGGATAAAGTGGCTCGGCAGCACACAGTAGGGGGCTCCTCCCCATGCTGCCCCACCCTGGCTGACCCACGCTGGGCTCCAGCAGCAGGCAAGAAAGTGGCAAGCTCCAGGTGGGACCAGACAGGCCGAGGTGAAGTGAGGGTTCCTGGCGCTTCCCATGGGGGCAGAGATGAGGACTCACGGGTGTTTTTAAACACCCAGACCTTCTGGAAACCTCCAGTTCTCACTCCCCCTCCTCCTGTACCTGCCCCCGACCCCCTGCGGATAAGCAAGCACGTCCTCACAGGGATAGGAGGGTCTGCCCTCCCATGCCGGAGCACCGCACAGGGTAAACAGTCAGTACCTAATAAATACCCAGTGGGTGAGCAAATGGCAACACGCACACATTCTAGAGTCCAGGCCACAGCCCTGGCGATGCTGGCCCCATCGGACCTGGGAGCTGCTAGGCACGCCAATGTCCCCTCATGTTCACGCAGTGTGAACTGCCAGGTCCTGCCTCCTGGCTTTGCCTGTGCTGTGACCTAACCTGGACGCCACCTCCCAGCCCTCCCTCACTGCCTGGTTATGTGCTATAGCCTTGGAGGGCTGGCTTGGAGGCTGCCTCCACTAGGCAGCTTTCCTGGATTGCCCAGTGGAACACAAGCCCATGGGGGACTCCCTTCCACCGTCGGTTCCTGACCAGCGATGCCACGGGCCCTTGGGGGCCATCTGCTCCCTCCCCGCTGCCTGCCTATCCCAGCAAGGTGCAGACACCAGAACCAGCCTCCCCTCCCCCGCAAAGCCTTCACAGACCTCAGCCTCCCCTCCCCCCAAACCCTCACAGACCTCAGCCTCCCCTCCCCCCAAAACCCTCACAGACCTGCCAGGCCCTGGGGGGAGCCCACGGGGGTAGAAGGGCTGGACGAGAAGTTATTGCTTGAGTGATCCGGGGAGTAGATCTGCGAGGAGGACCAGGAGAGATGGGCGGTCAGGGGCCGGCCTCTCAGGTCACTTGCCTGGCCACCCCCCATGCCCCACGCCTCACCGAGGCCAGTGCTTTGCCGAGGGCATCCCCGGAGCTGCCAGCTGTGGTCCCTCGGGAGCCTGTGGGTGAAGAGAGGTGAGGCCCACGCAGCCCGGCCTGGGTGCTGCCGCCGACGGCAAGCTCTCCTGCGTTCTGCCGTCCTGCACAGACACTGCTGCGCCAGGGAGAGCAGCCTGACTCGGGTCCGGTTTCTGTCTGACCCCCTGAAACCAGCCTCTGCAGGGGTTGAGGCACTGGGGACAGGCCACTGGCAGGGGACCCTGGGTGGGTGAGTCCCCTTCTGGGCCTGGGTGGGTGAGTCCCCCTCTGGGCCTGGATGGGTGAGTCCCTCTCTGGGCCTGGGTAACTGAGTCCCTCTCTGGGCCTGGGTGGGTGAGTCCCTCTCTGGGCCTGGGTGGGTGAGTCCCTCTCTGACCCTGGGTGGGTGAGTCCCTCTCTGACCCTGGGTGGGTGAGTCCCTCTCTGAGCCTCTTTCCCAGCTGTAAGGCGGGAAAGCCGCTCCTCAAAGATCTGTTTCCAGACATCCCAAGCCCAACGCACGTGGCAGGCCCTGCAGACAGCGGACAATGAGAACTGACAACAACCCGCTCTCAGGGCCAGCAGACGCGCCTGCGCCTCCCGTGGAGTCCTCGCCACCCCCCACCCAGACCCTGCCTGGAGCCCAGTGTCCCCTCGGAGAGGCCGCATCCCAGGGAGGGGCCATACCCAGGAGGCTGTCGGCCCCGCTGACAGGCGGCGTGTGGCTGGAGACGCCGCCGTACGTGGCTCCGGGGGCTGAGAAGGAGGATGCAGATGGGAGCCCACCGTTCACCTCTGCTCCATGCAGCTGGTAGCCCTGGGGGGTCAGGCAGGAGGAGGGTGGGTTAGATGGGCACTGCCACCCTCCGCCCACCCCCTGCCCCCTGCCCTGGGTCCTACCATACGCTCGTGCTGGTGCAGGCCACCAAACGTGCTGCTGCTTCCACTGCTGCCCACCGGGCCGCTACCGGGCGGGAGGGGCAGCGGGGATGAGCCCCCACCCAGCATGGGCCCGAAGCCCGCCTGGCCCGGGGGACTCCAGAGCTCGGCTGAGGGGTGCAGGCTGCCATCTGTGGAGGGGAGCTGGTAAGGTGGGGGCCGAGTGGGGAACCCCAGCCCTGCCCTACCGTCCCTGGCGAGCCCCCGCCCTGCCATGTACCTGCCACGTAGAAGGGGGCGGGATAGGTGCTGCTGGGGGTCTTGGCGGACGGGTAGGCGGTGGCATCCCTGCCGTAGTCCTCACCTGAGCTGGGTGGGTACACCTGCGGGCGGGTGGGCGGTGGGGGGTGCAGTCAGGACGGAGGGACCACGATCAGCCCATGCACCTTGCCGGCCTCCTGTCCCCTCCTGGTAGCACATCTACCACCCCGTTTCCCTTCCCTGTAAAGCCACCCCCCTTTAGGTAAATCCCAGCCCCTGGCCAAGTTTGAGGTTCTTATGATGTCCTGGTCTCTCTCTCCTACTCCTTTTCCAGCCCCCACCTCCCGCCTCCCTGAACTTCTGACCTTTGTACTTGAGGACTTGGATCTGGCTCTGCCTACTAAACCTTTTTCCTCCTTAATCCAGAAAACTCCTATCGACCCATCAAAACCCCAGCTCCAACACCCCATCCCATCCTTCTCCCTTGTTCCCCAGCTGGAATCAATCTTCCAGTGCTGAGCTTCCCTTGGTCCCAGAGCAACATTCGTCCTTCACTAAAGTAACAGGAAGAGGGGTCTGTGAGTAGCGCCAGCTCTGACTGGTTGGCACTGCCTGGACTGTGGGGCTGGGGCCTGTTGGTAACGTCTGCTGCTGTGCTGGAGCGGGAAGTATGCTGGGTGGGCCTGATGTTGTAATAAACTGGGGGGCGGTTTCAGGGCAGAGAAAGTGCACCCTGGGGAAGGAGGGGAGTGAGTGATACTGTTGGGAGCAGAGCCTGACCACGCCTTTGGCCTGGGAAGTCAACCTGACTCTAACCCCGAACCCAGGCCTGTGGGGAGCTGGTCGGCTGGAGGGGTGAGGAGATGTATGCCCAGGGCTCTTGGGGCCAGCACAGGCACTGGGCAGAGGGTGGTTGGTGGCTACTGAGCCAGGGAATCGGCAAATTCCCTCTCCCTCCAGCGAGATGAGACCGCAGGAGTGTGGCACAGCAGCCTGGACCATCTGCGAGGCCTGGTAGGGAGGCAGGGATGCGGGGCAGCCTGAAGCTGTGAGGATGTAACAGGGAGCCCCAATTGCGGCACCCCCCGCTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTTGCTCAGGCTGGAGGGCAGCGGCATGATCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAACGATTCTTCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACGCACCACCACGCCCGGCTGATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGACTAGGCTGATCTAGAACTCCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGCGCTGGGATGACAGGCATGAGCCACCACACCCAGCACAATTGTGCCCTTTCTAAAGGGGCCTCAGCCACCAGGACTGCCTTTCTCTCAAAACAAGACAGACAGAGGCTGGACCTAGGGAAGGACTTCCCCGCCTTCCCTTGGAGGCGGCCTCGGGTCAGAGCTCAGATCTTGGCTCAGAAATCACAGGGGGCCTGTCCACTCAGGGCCCACCCCGCCATGTGTGTTCCCAAGCTTCGCCAGGACACAGGGCCTGGCACTGCCACTGACGAGCTGTGGGGTCCCTTCTCCCTCGTGCGACTCACCGAGGNNN | benign | 293,555 |
Considering the variant on chromosome 19, location 2129474, involving gene AP3D1 (adaptor related protein complex 3 subunit delta 1), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | benign | CGTGACAGCATCCACGCAGGGACGGACCACGCACCCCCGGCGGCCTGTGAGATGGCAATACCGCCTTCCTACTGCATCTTTTCTAGAGTTTTTTTTGTTTTGTTTTTTGTCTTTTCTGAGACGGAGTCTCGCTCTGTTGCCCAGGCCGGAGTGCAATGGCGCGGCCTCGGCTCACTGCGACCTCCGCCTCTCAGGTTCAAGCGGTTCTCCTGCCTCAGCCTCCCGTGCAGCTGGGATTGCAAGCGTGCACCACCACGCCCGGCTAATTTTTGTATTTTTTAGGTAGAGACGGGGTTTCACCATGTTGCCTAGACTGGTCTTGAACTCCTGACCTCAAGTGATCTACTCGCCTTGGCCTCCCAAAGCGCTGGGATCACAGGCGTGAGCCACAGCTCCCAGCCCTTTTCGGTGTTTCGATGTGTTCAGACACACAGATAATCACCATGGAGTCGCAGCTGCTTACAGCTTTACAGTCACCTGCAGCGTAGGGCCGCAGCCAGGAGAATGGCCACGCGCCATAGCCTAGGAGTGTGGCGAGCTTCAGCAGTGAAGTCCGTGTGCGCGTATGCTACACTGCTCACATGGTGAAATGTACTAATGACACCCTTCTGTGAATGTGTCCTTGTTGCCGACACATGACTGCATCTGAAAGTCATGGCGATGACGCCTCTGCCTGCGGCCCACTGCACCCCTCCCCTTCCCTGCAGTGGGGGCCGGGGAGGGGTCCTGGCTCCGCCTCAGCACTTGGTCTGAGGAATTAAAGTGTCCCCTTCTAGCAACCAAAGGCAGCCTGGCCTGAAAAGGCTCCTAACATAGGATCCCATTCCACAACCTTGCAGTGCGGAGACCCACAAAGAAAACCCAAACTCCCCAAACGTCTCTAAGCAGCATGGAGAAGAGTCTAGTGGCCGGGAATGCCACTACAGGCTTCCAGTCTAGGACGGACAGTCATCTTTCAGCTGCTTCACGCCCAGCCCCCGCTGTACCGCACTGGGGCCGGGCTTGCAGCCACTCCAGCACTGCACCCCGTGGAGCCGGCCCGCCCCCGCCGCTCCGACACTGCACCCCGTGGAGCCGGCCCGCCCCACAGCTCCGACACTGCACCCCGTGGAGCCGGCCCGCCCCACAGCTCCGACACTGCACCCCGTGGAGCCGGCCCGCCCCCGCCGCTCCGACACTGCACCCCGTGGAGCCGGCCCGCCCCCGCCGCTCCGACACTGCACCCCGTGGAGCCGGCCCGCCCCACAGCTCCGACACTGCACCCCGTGGAGCCGGCCCGCCCCCGCCGCTCCGACACTGCACCCCGTGGAGCCGGCCCGCCCCACAGCTCCGACACTGCACCCCGTGGAGCCGGCCCGCCCCCGCCGCTCCGACACTGCACCCCGTGGAGCCGGCCCGCCCCACAGCTCCGACACTGCACCCCGTGGAGCCGGCCCGCCCCCGCCGCTCCGACACTGCACCCCGTGGAGCCGGCCCGCCCCCGCCGCTCCAACACTGCACCCCGTGGAGCCGGCCCGCCCCCGCCGCTCCGACACTGCACCCCGTGGAGCCGGCCCGCCCCCGCCGCTCCGACACTGCACCCCGTGGAGCCGGCCCGCCCCCGCCGCTCCGACACTGCACCCCGTGGAGCCGGCCCGCCCCCACCGCGCATGGCCTGCACTCACCTGTGGATGAGATTGGTGAGGGGCTCGATCAGCTTCTTGCCCAGCCGCGGTTCCAAAGGAGTAAGAGCACCGAACTGTGGGGACAGCAGGGCCTCGGTCACCCGCAGGGAATGCCCCACGCAGGGTGAGGGACAGGGGGGGCCTCGGTCACCCGCAGGGAATGCCCCACACAGGGTGAGGGAATGCCCCACACAGGGTGAGGAGGCCACATTCCCGGGCAGTACTTGCCAGCTTGATGATCTTGATGAGGACCCAGTTGTTGGTGGAGGACGTCATCAGCTTGAAAAAGAGCGGGGCCAGGGACAGGTAGTTCTTAGGGTTGCGTCTGGCCAGCTCGCAGATGACATTGACGGCAGCCGACTGAACCCCTGGGGAACAAGGGGTTCTCATCAGCATGCCTGTCCTTCCACCTAGAAAACCATCCTACTGTCTTCCTGGCCCGCGAGGAAGTTCTGGGGCCTGCAGCAGCTCCCACTGAACATGGCCCTGGCTCTGCCACCTCCTCCTGGTGACAGGGACAGCAGCCACAGACCTGATCCTCCAGGGAACAGGCCACAGCAGCCAGCTCCTGGCGCTGAGAAAGCATTGCTCGGCACTGTTGCCAGGAACAAGTGCGCACAAGCGTCACCAAGCTCAGGACAGCCTGACAGCGGCCCTCTGAGTGGGGGTTTCAGCATGAGGGCTCCAGAAACAGCTGCCCAGCCATCGGGGCTCAGGGAGTCTTCCTGCTGCATCCATGCCCACCACTCCAGGGAGAAGCTCGCCCATCGGGTCCCGGGCTTAGGGCTGGGGTCTCCCCTCCTGCACACAGGGCCTTGGGATTCCTGTGGGCTGGCTTTGGGGTCCACCGACCCACGCCTGCCACACGCCAGAGGCTTCACACACCAGCCCAGGGAAACTCAGTGAAACTGAATCTGCAGCCGCGTCCCGCAGTCACCACACCACAAATACACAACAGCTACACTAGGTGGAGGCAGCTCCTGCACGGGACATATGGTCTAGACCATCCCCTGCCCTGTGGAAGGTGCCTCCTGGTGGCACTGGTCCTAAGAGGGGCTGGCGGGGGTGGGTACACCTCTGCTCAGGGACACGCCAGACTCACCGCCAGCTGCCACATTGGATCTTACTGCCCCCACCACCAGCACCTCCCTCCTGGCTGCCCCAGCAAGGGGAGGCCCAGCCACCTCCAACAGGCATGTTCCTGGACTGAGCCCTTCACCACTCCCCGCAGCACCCCCCAAAACACGCCACCACCTCTTCCCAGGGCACCGGCTGAGCCCCCACCCTCAACCCTGAGGCTTAACTCAAATCCACAAACCGGGGTCGGGGTCCTCCAGCTTCTCCTTCAGCCGGGGAAAGGCAGGGCGCAGCGACTCGGGGTACTTCAGGAACACCTTGTACATGATCAGCACAGCCTTCTTCCTGATGTAGGGCTTGGTGTGTGACATCTGCGGGGCAGCGGGCTTCAGCCTGCGCGGGCTTTCTGCGCCTCATCCCTGCTCTCGCCCCTCCCAGCCGCCTCCTCCACAGAGAGGAGATGCCCTCCAGCCCGACGCTGTGGCTGCACACCAGTCCCAGGGGCCACAGACCAGCATCTTGGATGGCATGGAAGCCAGCCTCACTGTGCCCCTGACTCAGGCCTGCCCTCCAGAGAGAGCCCTCTTCCCTTGTGGCCTTCCTGCCCCAGGGTCCTGGGTCCCACAGTGGGAGGAAGGCTGGAGAGGAAAGTCACACAGGGAACGAGGGTGTGCTGGGAACACAGCCTACAGCCCAGCTCCTCACGGCTGTGCCCTGCGACTGCTCAAATTCCCCAGCGGGAGCCCTCCCATCTAACAGGCCCAGGGAGTCGCCTCGAACTGCCTGGTCCTGACAGAGCCAATCCATGATGGGGCACTGACATCCACCCTCTCGTGGGCTCCCCACTGCTTTACTCTAGAGGAGCCGGCACTCTGTGAAGGCCAGCAGTCAGTGTTTTCAGCTTCATGGGCCAGACAGCCTCTGTCATGACCACACAGCTGTGCCTTCACAACCAAGGCCACCAGAGACAACACAACACGTGAAAAGAAGGTGCAGCCGGCTGGATTTGGCCCTGTGCCGCAGCCTGCTGATCCCTGATCTAGAAGCTTAGCAGGCTGTGCTGACAATCTCCAAGACCATCAGCCACGATCTAGACACCTCCAGGTGGACAGGCAGCCACATGGGGACGGCGCCCATCGGCCACGATCTAGACACCAGGTGGACAGGCAGCCACGTGGGGACAGTGCCCATCGGCCACGATCTAGACACCAGGTGGACAGGCAGCCACGCGGGGACAGCGCCCATCGGCCACGATCTAGACACCGGGTGGACAGGCAGCCACGAGGGGACAGGGCCCATCGGCCACGATCTAGACACCCGGTGGACAGGCAGCCACGAGGGGACAGGGCCCATCG | CGTGACAGCATCCACGCAGGGACGGACCACGCACCCCCGGCGGCCTGTGAGATGGCAATACCGCCTTCCTACTGCATCTTTTCTAGAGTTTTTTTTGTTTTGTTTTTTGTCTTTTCTGAGACGGAGTCTCGCTCTGTTGCCCAGGCCGGAGTGCAATGGCGCGGCCTCGGCTCACTGCGACCTCCGCCTCTCAGGTTCAAGCGGTTCTCCTGCCTCAGCCTCCCGTGCAGCTGGGATTGCAAGCGTGCACCACCACGCCCGGCTAATTTTTGTATTTTTTAGGTAGAGACGGGGTTTCACCATGTTGCCTAGACTGGTCTTGAACTCCTGACCTCAAGTGATCTACTCGCCTTGGCCTCCCAAAGCGCTGGGATCACAGGCGTGAGCCACAGCTCCCAGCCCTTTTCGGTGTTTCGATGTGTTCAGACACACAGATAATCACCATGGAGTCGCAGCTGCTTACAGCTTTACAGTCACCTGCAGCGTAGGGCCGCAGCCAGGAGAATGGCCACGCGCCATAGCCTAGGAGTGTGGCGAGCTTCAGCAGTGAAGTCCGTGTGCGCGTATGCTACACTGCTCACATGGTGAAATGTACTAATGACACCCTTCTGTGAATGTGTCCTTGTTGCCGACACATGACTGCATCTGAAAGTCATGGCGATGACGCCTCTGCCTGCGGCCCACTGCACCCCTCCCCTTCCCTGCAGTGGGGGCCGGGGAGGGGTCCTGGCTCCGCCTCAGCACTTGGTCTGAGGAATTAAAGTGTCCCCTTCTAGCAACCAAAGGCAGCCTGGCCTGAAAAGGCTCCTAACATAGGATCCCATTCCACAACCTTGCAGTGCGGAGACCCACAAAGAAAACCCAAACTCCCCAAACGTCTCTAAGCAGCATGGAGAAGAGTCTAGTGGCCGGGAATGCCACTACAGGCTTCCAGTCTAGGACGGACAGTCATCTTTCAGCTGCTTCACGCCCAGCCCCCGCTGTACCGCACTGGGGCCGGGCTTGCAGCCACTCCAGCACTGCACCCCGTGGAGCCGGCCCGCCCCCGCCGCTCCGACACTGCACCCCGTGGAGCCGGCCCGCCCCACAGCTCCGACACTGCACCCCGTGGAGCCGGCCCGCCCCACAGCTCCGACACTGCACCCCGTGGAGCCGGCCCGCCCCCGCCGCTCCGACACTGCACCCCGTGGAGCCGGCCCGCCCCCGCCGCTCCGACACTGCACCCCGTGGAGCCGGCCCGCCCCACAGCTCCGACACTGCACCCCGTGGAGCCGGCCCGCCCCCGCCGCTCCGACACTGCACCCCGTGGAGCCGGCCCGCCCCACAGCTCCGACACTGCACCCCGTGGAGCCGGCCCGCCCCCGCCGCTCCGACACTGCACCCCGTGGAGCCGGCCCGCCCCACAGCTCCGACACTGCACCCCGTGGAGCCGGCCCGCCCCCGCCGCTCCGACACTGCACCCCGTGGAGCCGGCCCGCCCCCGCCGCTCCAACACTGCACCCCGTGGAGCCGGCCCGCCCCCGCCGCTCCGACACTGCACCCCGTGGAGCCGGCCCGCCCCCGCCGCTCCGACACTGCACCCCGTGGAGCCGGCCCGCCCCCGCCGCTCCGACACTGCACCCCGTGGAGCCGGCCCGCCCCCACCGCGCATGGCCTGCACTCACCTGTGGATGAGATTGGTGAGGGGCTCGATCAGCTTCTTGCCCAGCCGCGGTTCCAAAGGAGTAAGAGCACCGAACTGTGGGGACAGCAGGGCCTCGGTCACCCGCAGGGAATGCCCCACGCAGGGTGAGGGACAGGGGGGGCCTCGGTCACCCGCAGGGAATGCCCCACACAGGGTGAGGGAATGCCCCACACAGGGTGAGGAGGCCACATTCCCGGGCAGTACTTGCCAGCTTGATGATCTTGATGAGGACCCAGTTGTTGGTGGAGGACGTCATCAGCTTGAAAAAGAGCGGGGCCAGGGACAGGTAGTTCTTAGGGTTGCGTCTGGCCAGCTCGCAGATGACATTGACGGCAGCCGACTGAACCCCTGGGGAACAAGGGGTCGTCATCAGCATGCCTGTCCTTCCACCTAGAAAACCATCCTACTGTCTTCCTGGCCCGCGAGGAAGTTCTGGGGCCTGCAGCAGCTCCCACTGAACATGGCCCTGGCTCTGCCACCTCCTCCTGGTGACAGGGACAGCAGCCACAGACCTGATCCTCCAGGGAACAGGCCACAGCAGCCAGCTCCTGGCGCTGAGAAAGCATTGCTCGGCACTGTTGCCAGGAACAAGTGCGCACAAGCGTCACCAAGCTCAGGACAGCCTGACAGCGGCCCTCTGAGTGGGGGTTTCAGCATGAGGGCTCCAGAAACAGCTGCCCAGCCATCGGGGCTCAGGGAGTCTTCCTGCTGCATCCATGCCCACCACTCCAGGGAGAAGCTCGCCCATCGGGTCCCGGGCTTAGGGCTGGGGTCTCCCCTCCTGCACACAGGGCCTTGGGATTCCTGTGGGCTGGCTTTGGGGTCCACCGACCCACGCCTGCCACACGCCAGAGGCTTCACACACCAGCCCAGGGAAACTCAGTGAAACTGAATCTGCAGCCGCGTCCCGCAGTCACCACACCACAAATACACAACAGCTACACTAGGTGGAGGCAGCTCCTGCACGGGACATATGGTCTAGACCATCCCCTGCCCTGTGGAAGGTGCCTCCTGGTGGCACTGGTCCTAAGAGGGGCTGGCGGGGGTGGGTACACCTCTGCTCAGGGACACGCCAGACTCACCGCCAGCTGCCACATTGGATCTTACTGCCCCCACCACCAGCACCTCCCTCCTGGCTGCCCCAGCAAGGGGAGGCCCAGCCACCTCCAACAGGCATGTTCCTGGACTGAGCCCTTCACCACTCCCCGCAGCACCCCCCAAAACACGCCACCACCTCTTCCCAGGGCACCGGCTGAGCCCCCACCCTCAACCCTGAGGCTTAACTCAAATCCACAAACCGGGGTCGGGGTCCTCCAGCTTCTCCTTCAGCCGGGGAAAGGCAGGGCGCAGCGACTCGGGGTACTTCAGGAACACCTTGTACATGATCAGCACAGCCTTCTTCCTGATGTAGGGCTTGGTGTGTGACATCTGCGGGGCAGCGGGCTTCAGCCTGCGCGGGCTTTCTGCGCCTCATCCCTGCTCTCGCCCCTCCCAGCCGCCTCCTCCACAGAGAGGAGATGCCCTCCAGCCCGACGCTGTGGCTGCACACCAGTCCCAGGGGCCACAGACCAGCATCTTGGATGGCATGGAAGCCAGCCTCACTGTGCCCCTGACTCAGGCCTGCCCTCCAGAGAGAGCCCTCTTCCCTTGTGGCCTTCCTGCCCCAGGGTCCTGGGTCCCACAGTGGGAGGAAGGCTGGAGAGGAAAGTCACACAGGGAACGAGGGTGTGCTGGGAACACAGCCTACAGCCCAGCTCCTCACGGCTGTGCCCTGCGACTGCTCAAATTCCCCAGCGGGAGCCCTCCCATCTAACAGGCCCAGGGAGTCGCCTCGAACTGCCTGGTCCTGACAGAGCCAATCCATGATGGGGCACTGACATCCACCCTCTCGTGGGCTCCCCACTGCTTTACTCTAGAGGAGCCGGCACTCTGTGAAGGCCAGCAGTCAGTGTTTTCAGCTTCATGGGCCAGACAGCCTCTGTCATGACCACACAGCTGTGCCTTCACAACCAAGGCCACCAGAGACAACACAACACGTGAAAAGAAGGTGCAGCCGGCTGGATTTGGCCCTGTGCCGCAGCCTGCTGATCCCTGATCTAGAAGCTTAGCAGGCTGTGCTGACAATCTCCAAGACCATCAGCCACGATCTAGACACCTCCAGGTGGACAGGCAGCCACATGGGGACGGCGCCCATCGGCCACGATCTAGACACCAGGTGGACAGGCAGCCACGTGGGGACAGTGCCCATCGGCCACGATCTAGACACCAGGTGGACAGGCAGCCACGCGGGGACAGCGCCCATCGGCCACGATCTAGACACCGGGTGGACAGGCAGCCACGAGGGGACAGGGCCCATCGGCCACGATCTAGACACCCGGTGGACAGGCAGCCACGAGGGGACAGGGCCCATCG | benign | 293,683 |
Considering the variant on chromosome 19, location 3094599, involving gene GNA11 (G protein subunit alpha 11), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | benign | GAACATACAATTTCAAGTTGTGGCTCAAGAGAAGGTACCTGGCTTGGTCTGAGGAGTCAGGAGAAGTCTCCCTGAGGAGCTGACGTCTGAATTGAAACGGAGAGGATGCTCAGGGGTTGGCCAAGGAGGCCAGAGAGGGAAAAGGGTTTTCAGTAGTCAGCAAGGTGGTGGGAACACACGTTTTTATAAATTCTGGTGGCCACTTCCATTTCATCTGCAAAGTAAGGATAAAGATATGGCTGGGTGAGGTGGCTCACATCTATAATCCCAGCGCTTTGGGAGGCCGAGGAGGGCAGATCACTAGAGGCCAGGAGTTTGAGACCAGCCTGGCCAACGTGGCGAAACCCGCTCTCTACTAAAAATACAAAATTAGCCAGGCATGGTGGCGCGCCTGTAATCCCAGCTACTTGGGAGGGTGAGGCAGGAGAATCACTAGAGCCTGTGAGGCAGAGGGTGCAATGAACCTAGATCACGCCCCTGCACTCCAGCCTGGGCGACAGAGCAAGACTCCATCTCAAAAAAAGAAGAAGAAAAAAAAGATATCCCTTGGGTAGGGTTAGCTTAACGGGCTTACAGCAGTGCCTGGTATCCTGTAGGCATTTCATGAATGCGTATACCTGGCCTGGAATGGTGCAGGCACTGCAGTAAGGCCTGATTGACACCTGATGGACAGCAGGCACTCCATTAATCTCTGGTCCGTGCCTGGCATATAGAATGTGTCCCATTAATGCCTGATACACAGTAGGTGTCCCATTAACGCTTTTTAATTTTTTTTTTTGAGACAGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCATGATCTCAGCTCACTGCAAGTTCCGTCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTCAGCCAGGATAGTCTCGATCTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCCTCTTTTTTTTTTTTTTTCTTTGGAGACGGAGTTTCGTTCTTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACGGGCGTGCACCACCACGCCGGGCTAATTTTGTAGTTTTAGTAGAGACGGCGTTTCTCCCTGTTGGTCAGGCTGGTCTCGAACTCCAGACCTCAGGTGATCCGCCCGCCTCGGCCTTCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGACCTCCATTAACGCTTTTTAATGGATGAGTGAAGGTTCCTGTCAGGCAATGTCAGGGCGCTTCCCGGGGGCAGCGACTGCTGCCCAGGCACCTGGAGACCCAGAGAGCGCAGCGGCCGCGTGCGCGCCTCCGCCACCGCGCCTGGGCCGAGCCGAGCGGGACCGAGCGGGGCCGAACGGAGCCGAGCGGAGCCGAGCCTGGCCGGGCCGAGTCCGCCACATTCCCACAATCCCGGGCGGCCCCGCCCCGGCTCCCGGCTGCGCGTCCCCCTTCCCACGTCGGCGCAACCAAACCCGCGGGCCCCCCGCCCTCGCCCCGCCCCGCCCCTTTCGCGCCCGCCGACGCCCCGCCCAGGCCGCTAGTCCCGCCCCCATGGTGGGCGCGCTTGGCCGCCGGCCCCTCCCATTGGCCGCACCGTCTGCCCGTCGCGGGCTGCGCTCCCAGCCTGCTAGGTTGTCCGGCGCTGTCGCTCGGTTGCGGCGGCTGCGGTTGGCGGTGGCTGCGGCGGCGGCGCGGGCTGAGTGCGGCCGCGCGGGAGTCCGCGGCTGGCGCGGCCCGAGCGGGGACCCGGCGGCTCGCCAGGCGGCGGCCGAGGCGGGGCGGGCCGGCCCGGGGCCGAGGGCCGGTGGCCGAGGCCGGAGGGCCGCGGCGGGCGGCGGCCGAGGCGGCTCCGGCCAGGGCCGGGCCGGGGGCCGGGGGGCGGCGGCGGGCAGGCGGCCGCGTCGGCCGGGGCCGGGACGATGACTCTGGAGTCCATGATGGCGTGTTGCCTGAGCGATGAGGTGAAGGAGTCCAAGCGGATCAACGCCGAGATCGAGAAGCAGCTGCGGCGGGACAAGCGCGACGCCCGGCGCGAGCTCAAGCTGCTGCTGCTCGGTGAGTGCGGCCCCCGGGCCTGCCGGCTGCGGGCCCTGCCCTGCCTGTGCCTGCCCTGCCTGTCCGGGTCGGGCCGGGACCCTCCGGGGTCAGCCCTGCCTGTGCCGTCCGGGTCGCGAGACCCTCCGGGGTCAGCCCTGCCTGTGCCTTCCCTGCCTGTCCGGGTCGCGGGACCCTCGAGTGTCAGCCCTGCCTGTGCCTTCACTGCCTGTCCGGGTCGGGGCGGGGCCCTCCGGGATCAGCCCTGCCTGTGTCGTCTGGGTCGGCTCGGGACCCTCTGGGGTCAGCCCTGCCTTTGCTGTCTAGGTCGGCACCTGGGACCCTCCGGGGTCAGCTGCGGGCCCCTGATTTCTTTGGGGTCAGCCCCTGCCTTAACTGTTCATGTTGGCACCTGGGACTCTCCGGTGTCAGCCTGTGTCTGTCCTGTCTGGATCAGGCCCCCGATCACTCCTAGGTCAGCTCCCAGCTTCTGCTGTCTACATTGGGCCTCCAGGACTCTTCAGGATTTGCCCTCTGTTCCTTCTCAAGGGACCAGTCCCTCCCTGCACAGGGACCTTCTGACCTTACCCCACCGGAGTACCCACCCCTCGCTACCCCTTCAGGGCCAGACCTTTGGGCTGTAACCCACAGGGCACACTCACCCCTCACTGCTCAGGGCCCCGCGTTGACCCTTCCCTCCAGGCAGAGCCCTGTACACTCCATGCAGGCCCTGTACCCTCCATGCAGGCCCTGTACACCCCCCCATCCCCCCGAAGACTCCTCCGTGTCCCCTATCCCCACATTCCCTTCAGGGCCATTCTCCTGCCTTCCTGTTCCGGGAAACCCCGTACTCCTCTTGGCTGGAATGCACCCTGTGGGAAAAAGACAGTCTTTCCTCTCCTCAGGGTTCCGCTCAGCTGAGGGTGGGGCGGTTGACACCTGAGGGAGCCTTTGCTTGTTGTCCCAAGCAGCTATCTCGGCAGCCTCCCCCGCCCCCTTCCTTAGAGTCCTGGTGGGAGCCACGCTGAGTCCTCGTTGAGAGCAGCCCCCCACCTGCCGGCTCCTCCCCACCGTCCTGGAGAAGGTTTGCTGGTGAACCTCCTTCTCCCCAAGGCACACCTGCTGCAGGGAGCCAGTCGGGCCAGCTGTAAAGTGTTGTCACTCCAAATAAGGGCCCCTTCAGTGGTTTACAAAACAGAAGCTCTTGCCCTGCCCCGCCCCTGCCCTCCCGAGCTCCTAGGTTAGCTCCTGGGCCGGGGGCGGGGCGGTGGGGAAGGTCGGAAATGCGTGAGAGGCAGCGGTGACGGAGGAGGGGGCGTGCTGGTGGCGGTGGCTCTTGGGGAGGAGGCAGGTCGCATGTTGTGTGGGGAACACGTTGCCTCTCCTGCCGTGAGCCTCTTAGGGCCCTCCGTGTCCCGGGTTACAGAGGTGCCTTGGATGAAACGCCTTCCTGATTTTTTTCCCCAAACTTGTGTTTTGATTTACCTAAGGGTTCTAAAATGGGCCATCTTTCCAGGGGGCCGCGGGTAGGCAGAGCCGTGGTCCTCACGTTTGGAGGAAATGTGCAGTGCGGCCCGCGTGGTGGCACTTTGCACAGAGTGGCACTGGCTGGCTTTTGTAGTGGGTCGTGGACTTTGTTTGGATGGAGGGGAGTTAGGAATTACTGGTGTCATAAAGATCTTACCAGATGGCCTTGCCCTGTGGCTCTGTGACCTCCAGAACCCCCGCCGCCATCCCTGCATGCACCCGGTCTTCTGTGCCTGCACTTTGGACTTGAGATTGACACGGGGTTCAAGGACGAAGGTCAGGGGCTCCCGTGTCTGCCGCCTTGGCTGCTTGGAGCAAGTCTGGAAGTGATGCGGCCCTTCCCGCATCCTCTG | GAACATACAATTTCAAGTTGTGGCTCAAGAGAAGGTACCTGGCTTGGTCTGAGGAGTCAGGAGAAGTCTCCCTGAGGAGCTGACGTCTGAATTGAAACGGAGAGGATGCTCAGGGGTTGGCCAAGGAGGCCAGAGAGGGAAAAGGGTTTTCAGTAGTCAGCAAGGTGGTGGGAACACACGTTTTTATAAATTCTGGTGGCCACTTCCATTTCATCTGCAAAGTAAGGATAAAGATATGGCTGGGTGAGGTGGCTCACATCTATAATCCCAGCGCTTTGGGAGGCCGAGGAGGGCAGATCACTAGAGGCCAGGAGTTTGAGACCAGCCTGGCCAACGTGGCGAAACCCGCTCTCTACTAAAAATACAAAATTAGCCAGGCATGGTGGCGCGCCTGTAATCCCAGCTACTTGGGAGGGTGAGGCAGGAGAATCACTAGAGCCTGTGAGGCAGAGGGTGCAATGAACCTAGATCACGCCCCTGCACTCCAGCCTGGGCGACAGAGCAAGACTCCATCTCAAAAAAAGAAGAAGAAAAAAAAGATATCCCTTGGGTAGGGTTAGCTTAACGGGCTTACAGCAGTGCCTGGTATCCTGTAGGCATTTCATGAATGCGTATACCTGGCCTGGAATGGTGCAGGCACTGCAGTAAGGCCTGATTGACACCTGATGGACAGCAGGCACTCCATTAATCTCTGGTCCGTGCCTGGCATATAGAATGTGTCCCATTAATGCCTGATACACAGTAGGTGTCCCATTAACGCTTTTTAATTTTTTTTTTTGAGACAGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCATGATCTCAGCTCACTGCAAGTTCCGTCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTCAGCCAGGATAGTCTCGATCTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCCTCTTTTTTTTTTTTTTTCTTTGGAGACGGAGTTTCGTTCTTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACGGGCGTGCACCACCACGCCGGGCTAATTTTGTAGTTTTAGTAGAGACGGCGTTTCTCCCTGTTGGTCAGGCTGGTCTCGAACTCCAGACCTCAGGTGATCCGCCCGCCTCGGCCTTCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGACCTCCATTAACGCTTTTTAATGGATGAGTGAAGGTTCCTGTCAGGCAATGTCAGGGCGCTTCCCGGGGGCAGCGACTGCTGCCCAGGCACCTGGAGACCCAGAGAGCGCAGCGGCCGCGTGCGCGCCTCCGCCACCGCGCCTGGGCCGAGCCGAGCGGGACCGAGCGGGGCCGAACGGAGCCGAGCGGAGCCGAGCCTGGCCGGGCCGAGTCCGCCACATTCCCACAATCCCGGGCGGCCCCGCCCCGGCTCCCGGCTGCGCGTCCCCCTTCCCACGTCGGCGCAACCAAACCCGCGGGCCCCCCGCCCTCGCCCCGCCCCGCCCCTTTCGCGCCCGCCGACGCCCCGCCCAGGCCGCTAGTCCCGCCCCCATGGTGGGCGCGCTTGGCCGCCGGCCCCTCCCATTGGCCGCACCGTCTGCCCGTCGCGGGCTGCGCTCCCAGCCTGCTAGGTTGTCCGGCGCTGTCGCTCGGTTGCGGCGGCTGCGGTTGGCGGTGGCTGCGGCGGCGGCGCGGGCTGAGTGCGGCCGCGCGGGAGTCCGCGGCTGGCGCGGCCCGAGCGGGGACCCGGCGGCTCGCCAGGCGGCGGCCGAGGCGGGGCGGGCCGGCCCGGGGCCGAGGGCCGGTGGCCGAGGCCGGAGGGCCGCGGCGGGCGGCGGCCGAGGCGGCTCCGGCCAGGGCCGGGCCGGGGGCCGGGACGATGACTCTGGAGTCCATGATGGCGTGTTGCCTGAGCGATGAGGTGAAGGAGTCCAAGCGGATCAACGCCGAGATCGAGAAGCAGCTGCGGCGGGACAAGCGCGACGCCCGGCGCGAGCTCAAGCTGCTGCTGCTCGGTGAGTGCGGCCCCCGGGCCTGCCGGCTGCGGGCCCTGCCCTGCCTGTGCCTGCCCTGCCTGTCCGGGTCGGGCCGGGACCCTCCGGGGTCAGCCCTGCCTGTGCCGTCCGGGTCGCGAGACCCTCCGGGGTCAGCCCTGCCTGTGCCTTCCCTGCCTGTCCGGGTCGCGGGACCCTCGAGTGTCAGCCCTGCCTGTGCCTTCACTGCCTGTCCGGGTCGGGGCGGGGCCCTCCGGGATCAGCCCTGCCTGTGTCGTCTGGGTCGGCTCGGGACCCTCTGGGGTCAGCCCTGCCTTTGCTGTCTAGGTCGGCACCTGGGACCCTCCGGGGTCAGCTGCGGGCCCCTGATTTCTTTGGGGTCAGCCCCTGCCTTAACTGTTCATGTTGGCACCTGGGACTCTCCGGTGTCAGCCTGTGTCTGTCCTGTCTGGATCAGGCCCCCGATCACTCCTAGGTCAGCTCCCAGCTTCTGCTGTCTACATTGGGCCTCCAGGACTCTTCAGGATTTGCCCTCTGTTCCTTCTCAAGGGACCAGTCCCTCCCTGCACAGGGACCTTCTGACCTTACCCCACCGGAGTACCCACCCCTCGCTACCCCTTCAGGGCCAGACCTTTGGGCTGTAACCCACAGGGCACACTCACCCCTCACTGCTCAGGGCCCCGCGTTGACCCTTCCCTCCAGGCAGAGCCCTGTACACTCCATGCAGGCCCTGTACCCTCCATGCAGGCCCTGTACACCCCCCCATCCCCCCGAAGACTCCTCCGTGTCCCCTATCCCCACATTCCCTTCAGGGCCATTCTCCTGCCTTCCTGTTCCGGGAAACCCCGTACTCCTCTTGGCTGGAATGCACCCTGTGGGAAAAAGACAGTCTTTCCTCTCCTCAGGGTTCCGCTCAGCTGAGGGTGGGGCGGTTGACACCTGAGGGAGCCTTTGCTTGTTGTCCCAAGCAGCTATCTCGGCAGCCTCCCCCGCCCCCTTCCTTAGAGTCCTGGTGGGAGCCACGCTGAGTCCTCGTTGAGAGCAGCCCCCCACCTGCCGGCTCCTCCCCACCGTCCTGGAGAAGGTTTGCTGGTGAACCTCCTTCTCCCCAAGGCACACCTGCTGCAGGGAGCCAGTCGGGCCAGCTGTAAAGTGTTGTCACTCCAAATAAGGGCCCCTTCAGTGGTTTACAAAACAGAAGCTCTTGCCCTGCCCCGCCCCTGCCCTCCCGAGCTCCTAGGTTAGCTCCTGGGCCGGGGGCGGGGCGGTGGGGAAGGTCGGAAATGCGTGAGAGGCAGCGGTGACGGAGGAGGGGGCGTGCTGGTGGCGGTGGCTCTTGGGGAGGAGGCAGGTCGCATGTTGTGTGGGGAACACGTTGCCTCTCCTGCCGTGAGCCTCTTAGGGCCCTCCGTGTCCCGGGTTACAGAGGTGCCTTGGATGAAACGCCTTCCTGATTTTTTTCCCCAAACTTGTGTTTTGATTTACCTAAGGGTTCTAAAATGGGCCATCTTTCCAGGGGGCCGCGGGTAGGCAGAGCCGTGGTCCTCACGTTTGGAGGAAATGTGCAGTGCGGCCCGCGTGGTGGCACTTTGCACAGAGTGGCACTGGCTGGCTTTTGTAGTGGGTCGTGGACTTTGTTTGGATGGAGGGGAGTTAGGAATTACTGGTGTCATAAAGATCTTACCAGATGGCCTTGCCCTGTGGCTCTGTGACCTCCAGAACCCCCGCCGCCATCCCTGCATGCACCCGGTCTTCTGTGCCTGCACTTTGGACTTGAGATTGACACGGGGTTCAAGGACGAAGGTCAGGGGCTCCCGTGTCTGCCGCCTTGGCTGCTTGGAGCAAGTCTGGAAGTGATGCGGCCCTTCCCGCATCCTCTGNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN | benign | 293,784 |
Mutation found at chromosome 19 position 3491746, gene DOHH (deoxyhypusine hydroxylase): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['DOHH_related_neurodevelopmental_disorder', 'Neurodevelopmental_disorder_with_microcephaly,_cerebral_atrophy,_and_visual_impairment'] | ACAAAAAATTAGCCGGGCGTGGCAGCGTGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGTGGAGATCGTGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACTCCATCTCGAAAAAAAAAAAAAAACAAAAAAAAAATTTAGCTGGGCATGATGGTGCATGCCTGTAATCCCAGTTACTTGTTAAGCTGAGGCAGGAGAAGTGCTTGAGCCTGGCAGGCAGAGGTTGCAGTGAGCCGAGATCACGCCATTGCACTCCAGCCTGGGTAATAAGAGTGAAATTCCATCTCAACAAAAATAATAAAATAAATTAAAATTAAAAACCTATAATCAAACATGTGACTTCCAGGCAGGTTTCTCAACCTCTGCACTCATTTGGGGCCGGATCATTCTCTGTTGTGGGGACCGAGTGCTGGAGGTTATCTTCCAGCATCCCTGGCCTCCCCCGACTACCTGACTAGATGCCAGCTGCACACCCCCACCCCCCACCCCATGACAAGCTAAACTGATGCCCCGGGGCAGGATCCAGCACTCCGGTGGAGAACATGGCTCAGTGGATAGTCGGTTCCCGTTGCGTTTTGCCTCCTGTCTTCTGGTTTTGGCCTCTCTGGCTGCAGACCAGGAGCTCTGCACCTGAGATTCTACCGCTATGCCTATTTTACAGAGAGGTAAGTGGGCTGTCCCCAGCCACACATGGAAGGGCTGCGGGAGCCGGCGGAGGAAGCCATGTCTGGGCTCTCAGCTGGACCACAGAACCCCTTCCACTGCACCCACAACAGGAGCTGGGGGAAGACGGGGGTCCGGGAAGGGCCAGGCTGGAGGGCTGTTTCCCCAGAGCCCACTTGGAGGGAGCTGGCTGGGCAGATCTGACCAGGTAACCGCACATAAAACAGGTGCAGGCCTGCCTGTCGCTGGTGGTGGCTCAGTGTCAGCAGCAGGACAGATCCTAGAGCCAATGGCTGCGGATACAACCGTCTCCCCGCCCAGACGCCACACACTCTCGGGGAACGTTCCCTGAAAGCCCCCACCCCTCCCTCCCTCCCACGCTCCCCTCACCCAACACACTCAGAGGAGTCAGTGCTTGGCAAAAATAATTTAATATTCCATCTGGGCAGCGCTCTGAGGTCTGCTTGTCCCTCCCTGGCCCCTGTGCCCTACCTGACCCACTCAGGGACCACCACCCTGTCCCTACCCAGGCCTCGGGGTGGGGGAGTCAGAGGCCCCCAGACCCTGTGTCCCATTCCTAGTGAAGCTGAAGCCACCATAACGTCAGCCTCTTCCCAGAGCCCCAGCTCTGCCCCTGGCTTCCCTCGCGATCCTCCCCTGGCTCCCCTCGCGATCCTCCCTTGGCTTCCCTCGCGATCCTCCCCTGGCTTCCCTCGCGATCCTCCCCTGGCTTCCCTCGCGATCCTCCCCTGGCTTCCCTCGCGATCCTCCCCTGGCTTCCCTCGCAATCCTCCCCTGTCCTGAGCCGGGCATCCCAGAGCCTCCCGCAGAGTCCCACCCCAAGCCTGGAAACTTCCACGCTACAGCCCTGCGCCAGGCCCCGAGGAGCAGTCAGGGGACTCAGGGAGTCACAGCACAACGGCAGCTCCTCGGTCCCAGACGGAGGAGGGGGACAGCAACCATGCGCCCAGCAAGACACAAGCGATGACACCGATTTACACACACCCGGTTTAGACGCCAAAGCTCTGCGGGGGAGGAGCGGCCCTCAAGAGTCCTCCGGGAGCTCCGGGTGAGGGTGGGGCCCTAGGAGGGGGCCCCGCGCAGCTGCTCCAGGCCGTCCGCGTACTGGAAGGCCCGCCCGGTCTCGTGCTCATACATGTCCAGAGCCACCTCGCAGCTCTCACGCACCACGCGCTCTGGGTCGTCCGCGTGAGCCTGCAGCGCGGCCAGGCAGGCGGGCCGGGCAATGGCGCCCAGGGCCTCCGCGCACTCGTGCCGCACCATGGGGTTCTCGGTGCATCGGGCCAGGGCGGCCGCCAGCTGGGGCACCGCCGCCTCGTGCTGCAGCTGTCCCAGGACGTAGCCGACCTCGTGGCGGAAGAGGGCGCTCCCACAGTGCAGACCTGCAGGGGAGAGGGACACTCGCTGGGGCCAGGAGGGGTGGGAAGGGGAGCTCTGTCTTTTCGAAGACATGGGGTCTTGCTATCTTGCCCAGGCAGGTCACAAAGTCCTGGCGATCTTCCCATCCCGGCCTCCCAAAGTGCTGGGACGACAGGCGTGAGCCACCACGCCCAACCTGGGGTGTTCTACCTTGAAGACACCCCTGCCCCCAGCCCCAGTGATTAGGGATGCCCGGGGGAACTGACCGCAGCTATGGGGGCGGGAAAAGCTGGGAGCTATGGGGACCAAGAGGGACGCTTGCACGGGTTCTTAAGAGGCCCCATGGGAAATGCTTGGGGCCAGGCCCGGGATGCCGTTCCCGGGGGCAGGCCGCGGCCCCACTGCACAGATGCCATCACTGAACCTCACAGCGAGGCACTGCCCAGGACCCCACCCCAGAAGCCCCTCCTCACCCTCGGCCAGCGCCAGGGCGGCCTCCTCGCCTCCCGCGTTGCGCAGGGCGAACATGGCGCGGTATCGCTCGAAGAGCGGCCGGGACTCATCCAGCAGCGCCTCCCGCAGGCGCCCCACGTCACGCTCCTCAGCCGGCGGGGCAGGGTCCACGGAGAGGTAGGGTCCCGCCGCCGGCTCCCCGCCGTGCTGCTGCAGCCACTCCAGCCTGCGCACGGCCAGCTGGCAGGTCTCGGCCACCTGCGGGGAGGGGGTATCAGGCAGCGGGTTGGCCCTGGGGGGTCGCAGGGGCCCTTCCCCACCCCCCGGGATGGCAGCTTAGCAGGGGAGAGAGACACTGGCAGGGTGACTAACCCATCATTCCAGGCAGGAAGTAAGCCAGCAGGGGTGGCTGACTTGTGAGTGACCGGGGGACTGGAGGGCTGGGGAGGGCCTCAGGGAGGAGGTGATGTGGAGGCAGAGACCTAAGCCAGCTTAGGGAGGGAATCAGGTGGAGACCCGGGGATGGGGAAGCAGCGGTGGAAAGGCCCTGAGGCAGGACCCTGCGGGAGGGGTGAGGGCCAAAGGAACATGTGCGGCCCCACCTGACCAGGTAAGGCCTGCGGGCCACTGTAAGGGCTTGGGATTTTGTCCTAAAGGTGATGAGATATCGTGAGAGCTTTAAGCATGGAACAGAACAGCAGAATTGAGTGTCACACGTACCCCCGGCTGCCCCGGAGGAGGAGAGACTGAGGGTCGGGGTGGGATGTGGACAAGAAGTGGCAGGGGAGAAAGGAACATGCATGTCCGTGGCGGCATAACTCATAACAGCTAAAAAGCAGAGACAATTCAAGCATCCAGCCACAGTGAGTGGACACAGCATGGGCCGTCCACACCACGGAACGTGACTCAGCCACAAAAAGGAATGACGGGCCGGCCGAAGCGGCTCATGCCCCTAATCCCAGCAGTTAGGGAGACCAAGGCAGGAGGATCGCTTGAGCCCAGGAGTTCAACACCAGCCTGGGCGACAGAGCGGGACTTCATCTCTATAAAGAAAAAACTAATAAAATAAAAATTTGTTTCATTTTTGGGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGAGGCCAAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAATACGAAAAGATTTGCTGAGCGTGGTGGCAGGCGCCTGTAGTCCCAGCTACTCTGGAGGCTGAGGCAGGAGAATAGCATGAACCTGGGAAGCAGAGCTTGCAGTGAGCCGAGATCGCGCCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACACCGTCTCAAAAAAAAAAAAGAAGAAATGTTGGAAGGTAGCAGGAGATCTCTGAAGAGGTCTGGTGGGCCAGGACAAGGTATCAGAGGTAGAGGGCACTGGGTGGGTTCAGAGGGGTCTTGGCAGAGGGACTGGACGTGGGGGTTCAGAGAAAGGGGGTCAGGCCGGCTCAGGGGCTCAAGGCCCGGGATG | ACAAAAAATTAGCCGGGCGTGGCAGCGTGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGTGGAGATCGTGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACTCCATCTCGAAAAAAAAAAAAAAACAAAAAAAAAATTTAGCTGGGCATGATGGTGCATGCCTGTAATCCCAGTTACTTGTTAAGCTGAGGCAGGAGAAGTGCTTGAGCCTGGCAGGCAGAGGTTGCAGTGAGCCGAGATCACGCCATTGCACTCCAGCCTGGGTAATAAGAGTGAAATTCCATCTCAACAAAAATAATAAAATAAATTAAAATTAAAAACCTATAATCAAACATGTGACTTCCAGGCAGGTTTCTCAACCTCTGCACTCATTTGGGGCCGGATCATTCTCTGTTGTGGGGACCGAGTGCTGGAGGTTATCTTCCAGCATCCCTGGCCTCCCCCGACTACCTGACTAGATGCCAGCTGCACACCCCCACCCCCCACCCCATGACAAGCTAAACTGATGCCCCGGGGCAGGATCCAGCACTCCGGTGGAGAACATGGCTCAGTGGATAGTCGGTTCCCGTTGCGTTTTGCCTCCTGTCTTCTGGTTTTGGCCTCTCTGGCTGCAGACCAGGAGCTCTGCACCTGAGATTCTACCGCTATGCCTATTTTACAGAGAGGTAAGTGGGCTGTCCCCAGCCACACATGGAAGGGCTGCGGGAGCCGGCGGAGGAAGCCATGTCTGGGCTCTCAGCTGGACCACAGAACCCCTTCCACTGCACCCACAACAGGAGCTGGGGGAAGACGGGGGTCCGGGAAGGGCCAGGCTGGAGGGCTGTTTCCCCAGAGCCCACTTGGAGGGAGCTGGCTGGGCAGATCTGACCAGGTAACCGCACATAAAACAGGTGCAGGCCTGCCTGTCGCTGGTGGTGGCTCAGTGTCAGCAGCAGGACAGATCCTAGAGCCAATGGCTGCGGATACAACCGTCTCCCCGCCCAGACGCCACACACTCTCGGGGAACGTTCCCTGAAAGCCCCCACCCCTCCCTCCCTCCCACGCTCCCCTCACCCAACACACTCAGAGGAGTCAGTGCTTGGCAAAAATAATTTAATATTCCATCTGGGCAGCGCTCTGAGGTCTGCTTGTCCCTCCCTGGCCCCTGTGCCCTACCTGACCCACTCAGGGACCACCACCCTGTCCCTACCCAGGCCTCGGGGTGGGGGAGTCAGAGGCCCCCAGACCCTGTGTCCCATTCCTAGTGAAGCTGAAGCCACCATAACGTCAGCCTCTTCCCAGAGCCCCAGCTCTGCCCCTGGCTTCCCTCGCGATCCTCCCCTGGCTCCCCTCGCGATCCTCCCTTGGCTTCCCTCGCGATCCTCCCCTGGCTTCCCTCGCGATCCTCCCCTGGCTTCCCTCGCGATCCTCCCCTGGCTTCCCTCGCGATCCTCCCCTGGCTTCCCTCGCAATCCTCCCCTGTCCTGAGCCGGGCATCCCAGAGCCTCCCGCAGAGTCCCACCCCAAGCCTGGAAACTTCCACGCTACAGCCCTGCGCCAGGCCCCGAGGAGCAGTCAGGGGACTCAGGGAGTCACAGCACAACGGCAGCTCCTCGGTCCCAGACGGAGGAGGGGGACAGCAACCATGCGCCCAGCAAGACACAAGCGATGACACCGATTTACACACACCCGGTTTAGACGCCAAAGCTCTGCGGGGGAGGAGCGGCCCTCAAGAGTCCTCCGGGAGCTCCGGGTGAGGGTGGGGCCCTAGGAGGGGGCCCCGCGCAGCTGCTCCAGGCCGTCCGCGTACTGGAAGGCCCGCCCGGTCTCGTGCTCATACATGTCCAGAGCCACCTCGCAGCTCTCACGCACCACGCGCTCTGGGTCGTCCGCGTGAGCCTGCAGCGCGGCCAGGCAGGCGGGCCGGGCAATGGCGCCCAGGGCCTCCGCGCACTCGTGCCGCACCATGGGGTTCTCGGTGCATCGGGCCAGGGCGGCCGCCAGCTGGGGCACCGCCGCCTCGGTTGTGCTGCAGCTGTCCCAGGACGTAGCCGACCTCGTGGCGGAAGAGGGCGCTCCCACAGTGCAGACCTGCAGGGGAGAGGGACACTCGCTGGGGCCAGGAGGGGTGGGAAGGGGAGCTCTGTCTTTTCGAAGACATGGGGTCTTGCTATCTTGCCCAGGCAGGTCACAAAGTCCTGGCGATCTTCCCATCCCGGCCTCCCAAAGTGCTGGGACGACAGGCGTGAGCCACCACGCCCAACCTGGGGTGTTCTACCTTGAAGACACCCCTGCCCCCAGCCCCAGTGATTAGGGATGCCCGGGGGAACTGACCGCAGCTATGGGGGCGGGAAAAGCTGGGAGCTATGGGGACCAAGAGGGACGCTTGCACGGGTTCTTAAGAGGCCCCATGGGAAATGCTTGGGGCCAGGCCCGGGATGCCGTTCCCGGGGGCAGGCCGCGGCCCCACTGCACAGATGCCATCACTGAACCTCACAGCGAGGCACTGCCCAGGACCCCACCCCAGAAGCCCCTCCTCACCCTCGGCCAGCGCCAGGGCGGCCTCCTCGCCTCCCGCGTTGCGCAGGGCGAACATGGCGCGGTATCGCTCGAAGAGCGGCCGGGACTCATCCAGCAGCGCCTCCCGCAGGCGCCCCACGTCACGCTCCTCAGCCGGCGGGGCAGGGTCCACGGAGAGGTAGGGTCCCGCCGCCGGCTCCCCGCCGTGCTGCTGCAGCCACTCCAGCCTGCGCACGGCCAGCTGGCAGGTCTCGGCCACCTGCGGGGAGGGGGTATCAGGCAGCGGGTTGGCCCTGGGGGGTCGCAGGGGCCCTTCCCCACCCCCCGGGATGGCAGCTTAGCAGGGGAGAGAGACACTGGCAGGGTGACTAACCCATCATTCCAGGCAGGAAGTAAGCCAGCAGGGGTGGCTGACTTGTGAGTGACCGGGGGACTGGAGGGCTGGGGAGGGCCTCAGGGAGGAGGTGATGTGGAGGCAGAGACCTAAGCCAGCTTAGGGAGGGAATCAGGTGGAGACCCGGGGATGGGGAAGCAGCGGTGGAAAGGCCCTGAGGCAGGACCCTGCGGGAGGGGTGAGGGCCAAAGGAACATGTGCGGCCCCACCTGACCAGGTAAGGCCTGCGGGCCACTGTAAGGGCTTGGGATTTTGTCCTAAAGGTGATGAGATATCGTGAGAGCTTTAAGCATGGAACAGAACAGCAGAATTGAGTGTCACACGTACCCCCGGCTGCCCCGGAGGAGGAGAGACTGAGGGTCGGGGTGGGATGTGGACAAGAAGTGGCAGGGGAGAAAGGAACATGCATGTCCGTGGCGGCATAACTCATAACAGCTAAAAAGCAGAGACAATTCAAGCATCCAGCCACAGTGAGTGGACACAGCATGGGCCGTCCACACCACGGAACGTGACTCAGCCACAAAAAGGAATGACGGGCCGGCCGAAGCGGCTCATGCCCCTAATCCCAGCAGTTAGGGAGACCAAGGCAGGAGGATCGCTTGAGCCCAGGAGTTCAACACCAGCCTGGGCGACAGAGCGGGACTTCATCTCTATAAAGAAAAAACTAATAAAATAAAAATTTGTTTCATTTTTGGGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGAGGCCAAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAATACGAAAAGATTTGCTGAGCGTGGTGGCAGGCGCCTGTAGTCCCAGCTACTCTGGAGGCTGAGGCAGGAGAATAGCATGAACCTGGGAAGCAGAGCTTGCAGTGAGCCGAGATCGCGCCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACACCGTCTCAAAAAAAAAAAAGAAGAAATGTTGGAAGGTAGCAGGAGATCTCTGAAGAGGTCTGGTGGGCCAGGACAAGGTATCAGAGGTAGAGGGCACTGGGTGGGTTCAGAGGGGTCTTGGCAGAGGGACTGGACGTGGGGGTTCAGAGAAAGGGGGTCAGGCCGGCTCAGGGGCTCAAGGCCCGG | pathogenic | 293,850 |
Does the chromosome 19 mutation at position 3589823 within gene GIPC3 (GIPC PDZ domain containing family member 3) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | benign | CCGCCTCCCGGGTTCACACCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACACCCGGCTAATTTTTTGTATTTTAGTAGAGATGAGGTTTTACCGTGTTAGCCAGGACGGTCTCGATCTCCTGACCTCGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGCGATTACAGGTGTGAGCCACCGCGCCTGGCCGTGCCAGCTAATTTTTAATTTTTTTCTTTTTTTGAGACGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGTGATCTCGGCTCACCACAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAACTAGCTGGGATTACAGGCATGTGCCACCATGCCTGGCTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGCAGGCTGGTCTCGAACTCCCGACCTCAGGTGATCTGCCCGCCTCGGCCTCCGAAAGTGCTGGAATTACAGGCATGAGCCACTGCACCCTGCCCATTTTTTTTCATAACTAGACTTTCTCAATGAAGAAAACAGTGTATTGATTTACACACTAGCACATTCTCCTCATGTAGCCATGGGTTGGCCCTTTGGATAGCGTTGTTCTATAGAACAGAGACAGAGATTCTAGAAGTGCCCCAGCACACATGGAGAGACGTCCCAGGGAGAGTGAGCTGTATGGGGTTCTAGAATCTGCCCTGCCGTGGCTGTGAACTCCAAAAGCCATGCCTAAAAATAGAGTTTAGGCCGGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGAGAGGCCAAGGCAGGTGGATCACCTGAGGTCAGGTGATCCATCGTATCAAAAAAAAAAAAAAAAAAACCTGGCTGGGTGCAGTGGCTCAAGCCTGTAATCCCAGTACTTTGGAAGGCCAAGGCGGGTGCATCACGAGGTCAGGAGTTCGAGACCAGCCTGGCCAATATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCTGGGCATGGTGGCAGGTGCCTGTAATCCCAGCTACTCGAGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGTGGAGGCTGCAGTAAGCCGAGATCGTGCCATTGCACTCTAGCCTGGGTGACAGAGCAAGACAACATCTCAAAAAAAAAAAAAAAAATCAAGCTTAGTCTGAGACTAAACCCAGCTCTAGAGCCCAGGCCAGCTCTCAGACCAAGCCCTGCTCTTAAGCCCAGGCCAGCTCTGAGACTAAGTGTGTTTCTAGCACCTCAGTCCTGACACTAAGCCGGGTTCTGGAACCCAGACAAGAACATATCTAGATTGAGGATCCTACCACAAGGAGGGTCCCAAGCAGTCCCTTCTAGAGAAAGTCGCTAGAAGAGGGAGAGTGAGGGCATGGAACTGGGATGTTAGTTCTAAACCTGCTCCATTACAACACCTCATTCTGGACTTGTGATTTAGTTTGCTGGGGATGCGAAGTGTGGAATCTCGAATAGGTCTCTGGAGACTTGCCGTACAGATGTAAGGAGGACTTTGAAGGGGAGGAAGATTCTAGAAAGGCTCGGCTGTTGGCCTCCCAGGGTTTACAAAGATGTGGCTCCACCCAGAACCCATGGCCATCCCTCACTCTGTTCCCTCCAGATATGATTGGCCAGAGAAGTCGGTCCAGCAAATGTCCAGTAGAGGCGAAAGTGACCAGCGGGAGGGAGACCCTGCGGCTTCGTTCTGGGGGGGCTGCCACAGTGGAGGAAGCGGTGAGTGAAGGGGAGGGGCTCTCCCCAGGCTTCTGCACCTTCAGCTCCTCCACTGAGTCAGTGCGGTCTTGGGTAAGAACTTCTCCTCGGAGCCTCAGTTTCTCTGCCTGCAAAATGGGTCCTCATTGAAAAGTGGGGCAATGATGTTGGTACCAGCACTACTGACTCGTGTGAGGGTCCAGTCTACTCTTCCCTTAGGGGTGGGGGTCGGGAGGGGGCTGGGCTGGAGGGCTCCAAAGCTTTTCACCCCTGACTTCCCTCCCGTGTGCCCCCAGCCCAGTGAGTTTGAGGAGGAGGCATCTCGGAAGGTTGATGACCTGCTGGAAAGCTACATGGGCATTCGGGACCCCGAGCTGGGTAAGGGGCCAGGGTAAGCCAGGGGGCCCTGGGGGGAGGGAAGCCTACGGGAGGAGGCAGGGGTCCCAGCGGGAAGTTGGGCGCGGGGAGTGCCCTCACTGACATCCCCTCTGGCACGGCCCGCAGCGTCCACCATGGTGGAGACGTCCAAGAAGACAGCGAGCGCCCAGGAGTTTGCACGCTGTTTAGACTCCGTCTTGGGCGAGTTCGCCTTCCCCGACGAGTTTGTGGTGGAAGTGTGGGCCGCCATCGGCGAGGCCAGAGAGGCCTGTGGCTAGTTTGCCCTGGGGGGGCCCAGCACAGCCCCAGCCCGGAGCCCAGCCCCCTGCCCCGGCCCTGCTCCAGAACCCAGCCCAGATCGGAGGACAAGTTCCTCTCTAGAACCCAATCCAATTTGGAGCCCCAGCCCAACTCCAGAACCCAACCCTTCTCTAGAATCCAGCCCAGATCTGAGGCCAAGCTATGTGCTAGAGCCCAGGCCAGCTCTGAGACCAAGCCCAGCATTGAGAATAAGCTCTGTTCTAAAACTCAGGCCAGCCCTGAGACCAAGCCCAGCTCTAGAACTCAGATGAGCTTTGAGACCATGCCCAGCACTGAGACCAAGCCCTGTTCTAGAACTCAGGCCTGCTCTGAGGCCAAGCCCAGCTCTAGAACCCAGATGAGCTCTGAGACCATGCCCAGCTCTAGAACTCAGATGGGCTCTGAGACCATGCCCAGCTCTAGAACTCAGATGGGCTCTGAGACCGAGCCCAGCTCTAGAACTCAGATGGGCTCTGAGACCGAGCCCAGCTCTAAAACTCAGATGGGCTCTGAGACCATGCCCAGCTCTAGAACTCAGATGGGCTCTGAGACCGAGCCCAGCTCTAGAACTCAGATGGGCTCTGAGACCGAGCCCAGCTCTAGAACTCAGATGGGCTCTGAGACCATGCCCAGCTCTAGAACTCAGATGGGCTCCGAGACCAAGCCCAGCTCTAGAACCCAGATGAGCTCTGAGACCATGCCCAGCTCTAGAACTCAGATGAGCTCTGAGACAGAGCCCAGTATTGAGACCAAGCCCTGTTCTAGAGTCCAGGCCAGCTCCGAGACCAAGCCCAGCTCTAGAACCCAGATAAGCTCTGAAACCAAGCCCAGCATAGAGACCAAGCCGTGTTCTAGAATTCAGGCCACATCTGAAGCCAAGCCCAGCTCTAGAACTCAGGTCAGCCCTGAGACCAAGCCCAGCTCTAGAACCCAGATAAGCTCTGAAACCAATCCCAGCATTGAGACCAAGCCCTGTTCTAGAACTCAGGCCACCTCTGAGGCCAAACCCAGCTCTAGAACCCAGATAAGATCTGAGACCAAGCCCTGCTCTGAAGCCCAGGCCAGCTCTGAGACGAAGCACATCTCTAGAATCCAGCTGAGCCCTGACAACAAGCCAAACTCTGGAACCCAGACACATTTTAAGACCCAGACCAGCTTGGAGACCAATCCCAGTTCCAGAATCCAGGCTAGCTCGGAGACCAAGCCCTGCTGGAAAACTCAAGCTGACTCTGGAACTCTGGACAGCTCCACGATGCAGCCACACCTGGACACTCGGTCTAGCTCCGGAACCCCAGTTAATTTTGGAACCCATGTGAGATTCATGAAGCAGCCCAGCTCTGGAACCCCAGTCAGCTCAGGATTCAGAGACAGCTCCCAAATCAAATCCTATTCAAGAACTCAGACCAGCTCAGAAACCCAGGTCCACACGGCTGCCCAGTCCAGATCCCAACCCCAGTTGCATCCAAGTGCCCATCCCCATCCTGCAGCCCAGTCCAGCTCCAGTGATGATTCCAGCTCTGAGACTGAGCCCAGCTCTAGAACCTCGCCTAGTGCTACAACCAGGCCCAACTCCAGGATTCAGACCAGCTCTGGAACCCCATCCATCTTGGAAGCAAGACCCAGCTCCAGCACACAGCTTGGTGCCAAGCCCCACTCTC | CCGCCTCCCGGGTTCACACCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACACCCGGCTAATTTTTTGTATTTTAGTAGAGATGAGGTTTTACCGTGTTAGCCAGGACGGTCTCGATCTCCTGACCTCGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGCGATTACAGGTGTGAGCCACCGCGCCTGGCCGTGCCAGCTAATTTTTAATTTTTTTCTTTTTTTGAGACGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGTGATCTCGGCTCACCACAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAACTAGCTGGGATTACAGGCATGTGCCACCATGCCTGGCTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGCAGGCTGGTCTCGAACTCCCGACCTCAGGTGATCTGCCCGCCTCGGCCTCCGAAAGTGCTGGAATTACAGGCATGAGCCACTGCACCCTGCCCATTTTTTTTCATAACTAGACTTTCTCAATGAAGAAAACAGTGTATTGATTTACACACTAGCACATTCTCCTCATGTAGCCATGGGTTGGCCCTTTGGATAGCGTTGTTCTATAGAACAGAGACAGAGATTCTAGAAGTGCCCCAGCACACATGGAGAGACGTCCCAGGGAGAGTGAGCTGTATGGGGTTCTAGAATCTGCCCTGCCGTGGCTGTGAACTCCAAAAGCCATGCCTAAAAATAGAGTTTAGGCCGGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGAGAGGCCAAGGCAGGTGGATCACCTGAGGTCAGGTGATCCATCGTATCAAAAAAAAAAAAAAAAAAACCTGGCTGGGTGCAGTGGCTCAAGCCTGTAATCCCAGTACTTTGGAAGGCCAAGGCGGGTGCATCACGAGGTCAGGAGTTCGAGACCAGCCTGGCCAATATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCTGGGCATGGTGGCAGGTGCCTGTAATCCCAGCTACTCGAGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGTGGAGGCTGCAGTAAGCCGAGATCGTGCCATTGCACTCTAGCCTGGGTGACAGAGCAAGACAACATCTCAAAAAAAAAAAAAAAAATCAAGCTTAGTCTGAGACTAAACCCAGCTCTAGAGCCCAGGCCAGCTCTCAGACCAAGCCCTGCTCTTAAGCCCAGGCCAGCTCTGAGACTAAGTGTGTTTCTAGCACCTCAGTCCTGACACTAAGCCGGGTTCTGGAACCCAGACAAGAACATATCTAGATTGAGGATCCTACCACAAGGAGGGTCCCAAGCAGTCCCTTCTAGAGAAAGTCGCTAGAAGAGGGAGAGTGAGGGCATGGAACTGGGATGTTAGTTCTAAACCTGCTCCATTACAACACCTCATTCTGGACTTGTGATTTAGTTTGCTGGGGATGCGAAGTGTGGAATCTCGAATAGGTCTCTGGAGACTTGCCGTACAGATGTAAGGAGGACTTTGAAGGGGAGGAAGATTCTAGAAAGGCTCGGCTGTTGGCCTCCCAGGGTTTACAAAGATGTGGCTCCACCCAGAACCCATGGCCATCCCTCACTCTGTTCCCTCCAGATATGATTGGCCAGAGAAGTCGGTCCAGCAAATGTCCAGTAGAGGCGAAAGTGACCAGCGGGAGGGAGACCCTGCGGCTTCGTTCTGGGGGGGCTGCCACAGTGGAGGAAGCGGTGAGTGAAGGGGAGGGGCTCTCCCCAGGCTTCTGCACCTTCAGCTCCTCCACTGAGTCAGTGCGGTCTTGGGTAAGAACTTCTCCTCGGAGCCTCAGTTTCTCTGCCTGCAAAATGGGTCCTCATTGAAAAGTGGGGCAATGATGTTGGTACCAGCACTACTGACTCGTGTGAGGGTCCAGTCTACTCTTCCCTTAGGGGTGGGGGTCGGGAGGGGGCTGGGCTGGAGGGCTCCAAAGCTTTTCACCCCTGACTTCCCTCCCGTGTGCCCCCCAGCCCAGTGAGTTTGAGGAGGAGGCATCTCGGAAGGTTGATGACCTGCTGGAAAGCTACATGGGCATTCGGGACCCCGAGCTGGGTAAGGGGCCAGGGTAAGCCAGGGGGCCCTGGGGGGAGGGAAGCCTACGGGAGGAGGCAGGGGTCCCAGCGGGAAGTTGGGCGCGGGGAGTGCCCTCACTGACATCCCCTCTGGCACGGCCCGCAGCGTCCACCATGGTGGAGACGTCCAAGAAGACAGCGAGCGCCCAGGAGTTTGCACGCTGTTTAGACTCCGTCTTGGGCGAGTTCGCCTTCCCCGACGAGTTTGTGGTGGAAGTGTGGGCCGCCATCGGCGAGGCCAGAGAGGCCTGTGGCTAGTTTGCCCTGGGGGGGCCCAGCACAGCCCCAGCCCGGAGCCCAGCCCCCTGCCCCGGCCCTGCTCCAGAACCCAGCCCAGATCGGAGGACAAGTTCCTCTCTAGAACCCAATCCAATTTGGAGCCCCAGCCCAACTCCAGAACCCAACCCTTCTCTAGAATCCAGCCCAGATCTGAGGCCAAGCTATGTGCTAGAGCCCAGGCCAGCTCTGAGACCAAGCCCAGCATTGAGAATAAGCTCTGTTCTAAAACTCAGGCCAGCCCTGAGACCAAGCCCAGCTCTAGAACTCAGATGAGCTTTGAGACCATGCCCAGCACTGAGACCAAGCCCTGTTCTAGAACTCAGGCCTGCTCTGAGGCCAAGCCCAGCTCTAGAACCCAGATGAGCTCTGAGACCATGCCCAGCTCTAGAACTCAGATGGGCTCTGAGACCATGCCCAGCTCTAGAACTCAGATGGGCTCTGAGACCGAGCCCAGCTCTAGAACTCAGATGGGCTCTGAGACCGAGCCCAGCTCTAAAACTCAGATGGGCTCTGAGACCATGCCCAGCTCTAGAACTCAGATGGGCTCTGAGACCGAGCCCAGCTCTAGAACTCAGATGGGCTCTGAGACCGAGCCCAGCTCTAGAACTCAGATGGGCTCTGAGACCATGCCCAGCTCTAGAACTCAGATGGGCTCCGAGACCAAGCCCAGCTCTAGAACCCAGATGAGCTCTGAGACCATGCCCAGCTCTAGAACTCAGATGAGCTCTGAGACAGAGCCCAGTATTGAGACCAAGCCCTGTTCTAGAGTCCAGGCCAGCTCCGAGACCAAGCCCAGCTCTAGAACCCAGATAAGCTCTGAAACCAAGCCCAGCATAGAGACCAAGCCGTGTTCTAGAATTCAGGCCACATCTGAAGCCAAGCCCAGCTCTAGAACTCAGGTCAGCCCTGAGACCAAGCCCAGCTCTAGAACCCAGATAAGCTCTGAAACCAATCCCAGCATTGAGACCAAGCCCTGTTCTAGAACTCAGGCCACCTCTGAGGCCAAACCCAGCTCTAGAACCCAGATAAGATCTGAGACCAAGCCCTGCTCTGAAGCCCAGGCCAGCTCTGAGACGAAGCACATCTCTAGAATCCAGCTGAGCCCTGACAACAAGCCAAACTCTGGAACCCAGACACATTTTAAGACCCAGACCAGCTTGGAGACCAATCCCAGTTCCAGAATCCAGGCTAGCTCGGAGACCAAGCCCTGCTGGAAAACTCAAGCTGACTCTGGAACTCTGGACAGCTCCACGATGCAGCCACACCTGGACACTCGGTCTAGCTCCGGAACCCCAGTTAATTTTGGAACCCATGTGAGATTCATGAAGCAGCCCAGCTCTGGAACCCCAGTCAGCTCAGGATTCAGAGACAGCTCCCAAATCAAATCCTATTCAAGAACTCAGACCAGCTCAGAAACCCAGGTCCACACGGCTGCCCAGTCCAGATCCCAACCCCAGTTGCATCCAAGTGCCCATCCCCATCCTGCAGCCCAGTCCAGCTCCAGTGATGATTCCAGCTCTGAGACTGAGCCCAGCTCTAGAACCTCGCCTAGTGCTACAACCAGGCCCAACTCCAGGATTCAGACCAGCTCTGGAACCCCATCCATCTTGGAAGCAAGACCCAGCTCCAGCACACAGCTTGGTGCCAAGCCCCACTCT | benign | 293,881 |
Clinical significance of chromosome 19, position 3770700, gene RAX2 (retina and anterior neural fold homeobox 2): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Cone-rod_dystrophy_11', 'Retinal_dystrophy'] | CCCCGGCGGCCTCCCTGGGCAGGCGGGGGTGTGAGCGCGCCTTCTCTCGCGCTCACTGCAGGTGGTGCCAGCCGTTCCCACCCTCCTGTTGTTCCCCAAGGTTCTGAGGGTAAAAATCAAAGTTATAACAGCCACTGGCCCTGCCTGGCCTCCCCATCACCTCCCTCCTCCCCCTCCTCACTCTGCTCCAGCCGCATGGGCCTCCTCGCTATTCTTTCAATGCACGAGGCGTGGTCCTGCCCCAGGGCCTTTGCACAGCCTGTGCCTCTGCCCAGCTCCCTCCTTCCCTAGACCTTCTCCCTCCCGCCCCCGGTCTCTACCTTCACGCCAGCCTCCCCTCCTCCAGAACTCCCTATTAAAATTGCAGCCCCTGCCACACTCCACATCTGACTTTCCTGGTTTTTTTTTCTCCCTATCACTTATCACTGTCTGAAGTCTTTTGTTTTAGATTTGTTTTTTATTTGTATTGAGTCAGGGTCTGGCTCTGTTGCACAGGCTGGAGTGCAGCAGTGTGATCACAGCTCCCTGCAGCCTCGACCTTCTGGGCTCAAGTGATCCTCTTGCCTCAGCTTCTTGGGTAGCTGGGATGACAGGTGTGCACCAGTACACCCGGCACATTTTAAAAACGTTTGTGGAGATGGGGTCTTGCTGTGTCACCCAGGCTGGTCTCAAGCAATCCTCCCACCTCAGCCTCCCAAAGCACTGGGATTACAGGCATGAGCCACCGCACCTGGCCTGGTTTAGCTTTAAAAAAAAAAATCTTTCTTGTGCTTACTGCCGTGTCCCCACTGCCTGGTGTGCGGTGACATTGGGTGATGGCGGGGCGTTGGACCACAGGACTGGTGTGTGAGGTGCCGCCTAGAGATGGGGTGACCTGGTGATCTGGGAGTGATCTGGGGAGCCCAGGCTGGAGACGGGGAGGGTAGCTACTGCAGCTCCTGCCCTGGTGCCGCACTTCTGTCCCGGGAGGTGGCGCTGGCCCAGACTGTCCCATCCCATGCCTCAGGGCCCCCTCCTGCTGCACTGGGCCAGCCGTGCTTGCCAGTCCCAGCGGGTTCTCGGCCCCGCGACAGCCTCCTTGCTCAGAGCTCTTGGGCGATGCGGCTGGGTTGGACAGAGCAGATGCTGGCCATGCCTCCACTGGGGACATGCACAGGGCCTGGGGTCTGTGGGGACGTGAGGAACGGTCTGACGATGACGACACACCCAGCATCAGCCCGCCTCCACCTGGAGGCCCACCAGCACCTGGCCCGGGACCCACCCTCTCTCCAGAACCTGTCGCTGTGCCCCGGACGGTAGGACCGGTGATGGGTCTGAAAGGCAGCTCCATCCACTCCTGGCCGTGCGACTTTGGGGACCTGGCTTCCTGCCTAAGCCCCGGTTTCCCTCTCTATAGAATGGGCTGACAGCTGTGCCCGAGGTCCAGGGCACAACGGAGAGGGGAGTGCTCACATGGCGAGCACACGGTGAGAGGAGACCAGGCTCGCGGGAGCTGCTGCTATTTGTTATTTCCAGGGGACTGGGAGCCTGGAGAGTGGGCAGCTCTGCTGATGGGGATTAGGAGAAGCAGAGAGATTTACACTCATCTTACAGAGTCAGCGGTCCCGCCACCCACAGCCTCGCAGCCCTCGAACCTCGGAGGCCCCCACGCCCAATTAACAGACAGGAGACTGAGGCCCCAGGAGGGGAGGAGGTCCCCGCACCTGGCCTGAGAATACTTGGGTCACCTCCTGCCTGACACTGGGGGCCAGTCCGCTGCCAGCAGGACGGGTGGCGATGGGGTGGGAGACGGGATGGGGGCAGGGAACCCAGCAGCCTGTCTCTCTGGTCCCGCTCCCCAGTGGTGGTGGCCTGGCCTGACCACGGTTGCTCCATGACCTCGGCCTAGGCCAAGGCGTGGTGGCTGTCACCAGGGCACGTCCCCGGTTCTCGGGTTGGGCCGAGGAGGGGGCCCGGGAGGGCGGCAGGCTCAGGCTGGCGGCCAGGCCCTGTCCAGAGCCTGTGCATGTTCCTTGGCCAGCAGCCGCAGGGACGCCTCCTCCAGGGCGAAGCCATCTGCGAAGGTGGGAGCAAAGGCATGAGGCCCGAAGGACGCTTGCAGCCCCGGGCCCGGGCCCAGGAGGCGGGGGAGGCCTGGCACGGCCGGCGGTCCGGGGCCCAACCAGGGCTCCAGGGGCAGCGACATGGCCGGGGGGCGGGCGAACGGCAGCGCTGGGGCCTCGGGGAGTCTCGGAGCTGCCACGGCACCCGAGCCTGACTCCAGCCGCTCCTGGCGGCGCCACTTGGCCCGGCGGTTCTGGAACCACACCTGGAGGGTGCGAGAGGGAAGGGGGGTTGCTGTGAGCTCAGCCGCTCCCCGCCAATCCTCGGACCCCCTCTGCACACCCCAGCCCTGGGGGTTCTGACTCCCGTCTGACCCGACTCCTACCTGCTGCTTCGCTGTTCTGCCCCAAGAAGATGAGGATCTCCCAAGCGTTCCCTAAGCCCAGGCTCCCCTCCAACTCCTCACTCCCCTCCTTGGCCTCCCTTGGCCCTTAGCAAGTAACCTGAGCTGCCTAACGTGGCATTCAAGGCCTTCAAAAGCGTTGTTACCCACACCATTCTCTGCCTCCTCCTTCACCCCTGGCTCAAGGGAAACGCCTCCAACTTAACCCCTCCATGTCTTTGCACACACTGTTCAGGATGCCTAGAAAAACTCCCCTTTTCCTTCCCAGCTGGCACACTCCTACTCAAATGTCAAAACCTCAGCTCCCACACCCCCTCCTCCAGGAAGCCTTCCTAGCTTCTCTTCTGCTGTTGCTCCGGGAGGGTCAGGATCTTGCTTTGCCTCCCTCCCCAGGTTGCAAAAGATGTGTGTGTTGGGGGGTGCCCTCACCTGCACGCGCACCTCAGGTAGGTGCACCTTGGCTGCCAGCTCCTCACGGCTGTACACATCCGGGTAGTGAGAGGCCTCGAACGCCCGCTCCAGCTGGTGCAGCTGGTAGGTGGTGAAGGTGGTGCGGTTCCTCCGGTGCTTCTTCTTGGGGGCCTCCTCGCCCGGCCCCAGACCCCCACCCTCGGTTGCCGGCCCCTCGCCCGGGCTCAGGAACATGGCTCCCACCTGGTGGGACGGCAGCGGGACAGATGGTGGGGAGACGGCTGGGGGGGCTACCGGCAGGGACAGGGCAGGGGAGCCCCAGGCTTGCCTCCCGGCTCCGGGGAAATCGGTTCCCTCCACTGGGGCCGGCATGCGCTCTGCATCCCCAGGCTGTCCTCCTCGGGCTTGGGGGGGTCTCCTGCTGTGCCTCTGTCTGCTCTTCCTTCTCTCTGTGTGTGTCACCGTCCCTGTTTTCTCTTCCCCTCTCTGTGACTGTCACGGCCTGTGTGTGTGTGTGTCGGCGGGGGGGGGTCAAGGATGCCCCCCCGTCAAGGAAGGCAGGATCCCTTCTCACGCCCTAAGCCCTCCACCCTGAGGGGATCTCTGCCCCCACCACCTCCTACCCAGGCCCACCAGTGCCCACCCCGCACTCACCGCCCACGGCAGCCCCTCCGTCGATTTCCACGGGACACCTGCCCCAGCGGGCCTGGCGCTGCGTCTGCTGTGGCCTGGCCCTGCCGGAGCCGAGCCAGGTCGGGGCTGCGTGGGGGAGGATTAGCTCAAGGTGATTAATTGAGGCGGCCCCTCCCACTTGGTCCTGGGCTGTTCTGAGCCAGGAGGGAGGGCAGGGTGGATGGAGGGCTGGGGCTCTAAGTGGGTGGCTGGGGGGATAGTCTTACAGGCTCCACGGCCCCTTGCCATAAGACGGCAAGGGCCTCTCCCTCTCTGGGCCTCAGTTTCCCTGGCTGTAAAACTGCCACACTAGGACCTACCCTGGGGGGATTTCAGCTTCTCAGAGCATCGCACAGAAATTGGCATACAGGGGGCACTTAATGAATGCTCACTGTTAATATTTTTATCTGCTGGGGGCAGAAAAAGGTGTCTTAGAACTCACAGATGTCAGAGGCAGTTGGGGAAGCTGAGGTCCAGAGGTGAAGGCACTGCAGTTGGTTCCTCTGGACACAAGGGGTAGGGACCCTTTTAGCTGGGTCTGGAGGTATGAATAGACGTTCACCATTC | CCCCGGCGGCCTCCCTGGGCAGGCGGGGGTGTGAGCGCGCCTTCTCTCGCGCTCACTGCAGGTGGTGCCAGCCGTTCCCACCCTCCTGTTGTTCCCCAAGGTTCTGAGGGTAAAAATCAAAGTTATAACAGCCACTGGCCCTGCCTGGCCTCCCCATCACCTCCCTCCTCCCCCTCCTCACTCTGCTCCAGCCGCATGGGCCTCCTCGCTATTCTTTCAATGCACGAGGCGTGGTCCTGCCCCAGGGCCTTTGCACAGCCTGTGCCTCTGCCCAGCTCCCTCCTTCCCTAGACCTTCTCCCTCCCGCCCCCGGTCTCTACCTTCACGCCAGCCTCCCCTCCTCCAGAACTCCCTATTAAAATTGCAGCCCCTGCCACACTCCACATCTGACTTTCCTGGTTTTTTTTTCTCCCTATCACTTATCACTGTCTGAAGTCTTTTGTTTTAGATTTGTTTTTTATTTGTATTGAGTCAGGGTCTGGCTCTGTTGCACAGGCTGGAGTGCAGCAGTGTGATCACAGCTCCCTGCAGCCTCGACCTTCTGGGCTCAAGTGATCCTCTTGCCTCAGCTTCTTGGGTAGCTGGGATGACAGGTGTGCACCAGTACACCCGGCACATTTTAAAAACGTTTGTGGAGATGGGGTCTTGCTGTGTCACCCAGGCTGGTCTCAAGCAATCCTCCCACCTCAGCCTCCCAAAGCACTGGGATTACAGGCATGAGCCACCGCACCTGGCCTGGTTTAGCTTTAAAAAAAAAAATCTTTCTTGTGCTTACTGCCGTGTCCCCACTGCCTGGTGTGCGGTGACATTGGGTGATGGCGGGGCGTTGGACCACAGGACTGGTGTGTGAGGTGCCGCCTAGAGATGGGGTGACCTGGTGATCTGGGAGTGATCTGGGGAGCCCAGGCTGGAGACGGGGAGGGTAGCTACTGCAGCTCCTGCCCTGGTGCCGCACTTCTGTCCCGGGAGGTGGCGCTGGCCCAGACTGTCCCATCCCATGCCTCAGGGCCCCCTCCTGCTGCACTGGGCCAGCCGTGCTTGCCAGTCCCAGCGGGTTCTCGGCCCCGCGACAGCCTCCTTGCTCAGAGCTCTTGGGCGATGCGGCTGGGTTGGACAGAGCAGATGCTGGCCATGCCTCCACTGGGGACATGCACAGGGCCTGGGGTCTGTGGGGACGTGAGGAACGGTCTGACGATGACGACACACCCAGCATCAGCCCGCCTCCACCTGGAGGCCCACCAGCACCTGGCCCGGGACCCACCCTCTCTCCAGAACCTGTCGCTGTGCCCCGGACGGTAGGACCGGTGATGGGTCTGAAAGGCAGCTCCATCCACTCCTGGCCGTGCGACTTTGGGGACCTGGCTTCCTGCCTAAGCCCCGGTTTCCCTCTCTATAGAATGGGCTGACAGCTGTGCCCGAGGTCCAGGGCACAACGGAGAGGGGAGTGCTCACATGGCGAGCACACGGTGAGAGGAGACCAGGCTCGCGGGAGCTGCTGCTATTTGTTATTTCCAGGGGACTGGGAGCCTGGAGAGTGGGCAGCTCTGCTGATGGGGATTAGGAGAAGCAGAGAGATTTACACTCATCTTACAGAGTCAGCGGTCCCGCCACCCACAGCCTCGCAGCCCTCGAACCTCGGAGGCCCCCACGCCCAATTAACAGACAGGAGACTGAGGCCCCAGGAGGGGAGGAGGTCCCCGCACCTGGCCTGAGAATACTTGGGTCACCTCCTGCCTGACACTGGGGGCCAGTCCGCTGCCAGCAGGACGGGTGGCGATGGGGTGGGAGACGGGATGGGGGCAGGGAACCCAGCAGCCTGTCTCTCTGGTCCCGCTCCCCAGTGGTGGTGGCCTGGCCTGACCACGGTTGCTCCATGACCTCGGCCTAGGCCAAGGCGTGGTGGCTGTCACCAGGGCACGTCCCCGGTTCTCGGGTTGGGCCGAGGAGGGGGCCCGGGAGGGCGGCAGGCTCAGGCTGGCGGCCAGGCCCTGTCCAGAGCCTGTGCATGTTCCTTGGCCAGCAGCCGCAGGGACGCCTCCTCCAGGGCGAAAGGTGGGAGCAAAGGCATGAGGCCCGAAGGACGCTTGCAGCCCCGGGCCCGGGCCCAGGAGGCGGGGGAGGCCTGGCACGGCCGGCGGTCCGGGGCCCAACCAGGGCTCCAGGGGCAGCGACATGGCCGGGGGGCGGGCGAACGGCAGCGCTGGGGCCTCGGGGAGTCTCGGAGCTGCCACGGCACCCGAGCCTGACTCCAGCCGCTCCTGGCGGCGCCACTTGGCCCGGCGGTTCTGGAACCACACCTGGAGGGTGCGAGAGGGAAGGGGGGTTGCTGTGAGCTCAGCCGCTCCCCGCCAATCCTCGGACCCCCTCTGCACACCCCAGCCCTGGGGGTTCTGACTCCCGTCTGACCCGACTCCTACCTGCTGCTTCGCTGTTCTGCCCCAAGAAGATGAGGATCTCCCAAGCGTTCCCTAAGCCCAGGCTCCCCTCCAACTCCTCACTCCCCTCCTTGGCCTCCCTTGGCCCTTAGCAAGTAACCTGAGCTGCCTAACGTGGCATTCAAGGCCTTCAAAAGCGTTGTTACCCACACCATTCTCTGCCTCCTCCTTCACCCCTGGCTCAAGGGAAACGCCTCCAACTTAACCCCTCCATGTCTTTGCACACACTGTTCAGGATGCCTAGAAAAACTCCCCTTTTCCTTCCCAGCTGGCACACTCCTACTCAAATGTCAAAACCTCAGCTCCCACACCCCCTCCTCCAGGAAGCCTTCCTAGCTTCTCTTCTGCTGTTGCTCCGGGAGGGTCAGGATCTTGCTTTGCCTCCCTCCCCAGGTTGCAAAAGATGTGTGTGTTGGGGGGTGCCCTCACCTGCACGCGCACCTCAGGTAGGTGCACCTTGGCTGCCAGCTCCTCACGGCTGTACACATCCGGGTAGTGAGAGGCCTCGAACGCCCGCTCCAGCTGGTGCAGCTGGTAGGTGGTGAAGGTGGTGCGGTTCCTCCGGTGCTTCTTCTTGGGGGCCTCCTCGCCCGGCCCCAGACCCCCACCCTCGGTTGCCGGCCCCTCGCCCGGGCTCAGGAACATGGCTCCCACCTGGTGGGACGGCAGCGGGACAGATGGTGGGGAGACGGCTGGGGGGGCTACCGGCAGGGACAGGGCAGGGGAGCCCCAGGCTTGCCTCCCGGCTCCGGGGAAATCGGTTCCCTCCACTGGGGCCGGCATGCGCTCTGCATCCCCAGGCTGTCCTCCTCGGGCTTGGGGGGGTCTCCTGCTGTGCCTCTGTCTGCTCTTCCTTCTCTCTGTGTGTGTCACCGTCCCTGTTTTCTCTTCCCCTCTCTGTGACTGTCACGGCCTGTGTGTGTGTGTGTCGGCGGGGGGGGGTCAAGGATGCCCCCCCGTCAAGGAAGGCAGGATCCCTTCTCACGCCCTAAGCCCTCCACCCTGAGGGGATCTCTGCCCCCACCACCTCCTACCCAGGCCCACCAGTGCCCACCCCGCACTCACCGCCCACGGCAGCCCCTCCGTCGATTTCCACGGGACACCTGCCCCAGCGGGCCTGGCGCTGCGTCTGCTGTGGCCTGGCCCTGCCGGAGCCGAGCCAGGTCGGGGCTGCGTGGGGGAGGATTAGCTCAAGGTGATTAATTGAGGCGGCCCCTCCCACTTGGTCCTGGGCTGTTCTGAGCCAGGAGGGAGGGCAGGGTGGATGGAGGGCTGGGGCTCTAAGTGGGTGGCTGGGGGGATAGTCTTACAGGCTCCACGGCCCCTTGCCATAAGACGGCAAGGGCCTCTCCCTCTCTGGGCCTCAGTTTCCCTGGCTGTAAAACTGCCACACTAGGACCTACCCTGGGGGGATTTCAGCTTCTCAGAGCATCGCACAGAAATTGGCATACAGGGGGCACTTAATGAATGCTCACTGTTAATATTTTTATCTGCTGGGGGCAGAAAAAGGTGTCTTAGAACTCACAGATGTCAGAGGCAGTTGGGGAAGCTGAGGTCCAGAGGTGAAGGCACTGCAGTTGGTTCCTCTGGACACAAGGGGTAGGGACCCTTTTAGCTGGGTCTGGAGGTATGAATAGACGTTCACCATTCNNNNNNNNNNN | pathogenic | 293,973 |
Benign or pathogenic: chromosome 19, position 4117403, gene MAP2K2 (mitogen-activated protein kinase kinase 2) variant? Disease(s) if pathogenic? | benign | GAGCTGCTGATACAGCAAGCATTGGGTTCATGTCCACTGCCCAGCCCATCAGGGACCACTGGAGGCTCCCCCAGAAGCCTGAGGGTCCCTGGCACACACGAGGACTGGCACTGTCTCAAGGCCCTGCTGTGGCTGTGTGAACCACACGCTTGCCTTTTTCCACCCAGTGCTTCGGGCGGAGGCGGACCTGAGCTTTCCAAGGCTGCTCCGGTTTGGAAGAGGCTGCCTGCAGTACGGGGACAGAAATAGCAAGTCCGCGGCTGCACACTTCAGGAGGGAGGGAGGGCAGCACTCTAGAGGCCAGAAGACAGAGCTGCAGAGCTAAATCCCCGCAGGAGTTGAGCCGCTGCTCCCGAGGAAGGCAGGGCCCTCAAGCACTGCTGCCACCTGCGCAGACCCACGGGACTAGGTGCAGTCACGTTCCCCCAGTTTGGGGAACTACAGGATGGTGGGCTTCCAGGAAGAGGCAGCGTTCTAGGTCTGAAAGAACACCGGTGAGGAGCTGAACACCCTGTCAACACTAAGTCCCCTACTTCTGTGTTTAAGAGCCACTGTCCCCAAGTGGTCACATCCTCCCTGTATCCCCTGGGCACTATTCTCAAACACAGAGCACAGAGGCTGCATCATGGCCCAGGAGCCCGGGATGACTAAGCACGGGGGCCGTCAGCACCAGGGCTTGCAGACTTTCAAAGGGTGGGTGACAGTCAGCTTTGTGTGTCTCCTCGGTGAGACCACGGTGCCCAGTTGTCAAACGCCAGTCTAGAGGTTGCTGGGAAGGTATGTTTTTAAGATGTGATTAACCTTTAAATTGGCAGACTCTGAGCAAAGCAGATTACTCCACCCCAGGGTGGGTGAGTCTCAGCCAATCAGCTGAAGGCCTTCAGGGAAAAGCCTGCCCAGGCGCGGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCCGAGGCAAGAGGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACACGGTGAACCCCATCTCTACTAAAAAAACAAAAATTAACTGGGTGTGGTGGCATGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCCCTTGAACCCAGGAGGTAGAGGTTGCAGTGAGCCAAGATCGCACCACTGCACTCCAGCCAATTCCTTAGAATAAATCTCTCTCTACACATACACTCAAGTATCATTAAGGACAGGGATACACTGAGAAATCCCTCTCTGGGCGATGTCGTCACTGTGCAAACACTGGAAAGCCCATTCCACACCCAGGCTCCCATGCTCTGTACAGCGCAGTGCTGAGCTGCTGTCTGTTTATTTAAATATAGAGAACCGAGGCAGGCGGATCACCTGGGGTCAAGAGTTCCAGACCAGCCTGGCCAACATGGCGAAACCCTGCCTCTACTAAAAACACAAAAAAATGAGCTGGGCCTGGTGGTGTGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAAGAGAATCCTTGAACCCAGGAGGCGGAGGTTGAAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACCCCGTCTCAAAAAGTAAAAATAAAAATAAAAATAAACATACAGAAGGCACAGCAAAAACATGGCCTGATCATCTTACGTCGCCACCGCTGCGTAGGCGGTCTGTCACTGGCTGAGCCATCGCCCTGAGGTGGCTGTACACATAGGCGCAAACACACACACGCTTCGTCTTCATCGCTTGTTTCTCTGGAGAACCATAACACACTCGCATTTCTGAAACCCCCACGTGCTAGCTTTCTGGGAATATGGATTTCAAGTGCCCTCCAGGGCAGAAAGTAGTCACTGGAGGGCACAGCTGTGTGTGGCTGGTGTGGCTGGCACGGCTCCCATCTGCCCAGAAGCTGGGCCCTTTCTCAGGACCTAGAGTCCCTGGTGGGGATGAGGGACAGAGCCTGGAGCTAATCAGAATGCAGAGACCCGGCTGCCTTCCCAACCTGCCTCCTGTTTCCAGGGGGACCTTCCCCACCACTCCCCGACCTCCCCGACCCCGCAGTGCTCACCTTCCTGGCCATGATGAGGCCCGAGGGTCTGTGCTGGACTTTGGTGACCACCCCGCCGTTGCCCGCGCCCAGCTCTGAGATCCTTTCGAAGTCATCGTCTTTGAGTTCGCCGACCTTGGCTTTCTGGGTGAGAAAGGCTTCCAGCCGCTTCTTCTGCTGCTCGTCAAGTTCCAGCTCCTCCAGCTTCTTCTGCAGGTCCACCAGGTTTGCCCTGCAGAGACCCCCCAGGGTAGGGGTTAGCTACCTAGGGAGACTCCATCTGGCCGTTTGCTATGTGGCCGTGGTGCATCGGCCCCCAGGAGGACACAGACTGGATTCCTGCACTTGAGGGGTTCATGGTGTAGAAGGAAAGGATCCATGCTGTGTACCCCCATAGACACACCAATGACCAGAATCCAGGGCGGCTCCCCGGGAACTGAGGACGCTGCCTTGATCCTGTCTCAACAAGTCTAGCAGACCTCAGGACCTCAAGGATAAGCTGCAGCTCAAAGGACCCAGGAAGCCTCCGTCTTTTTCTTTTCTTTTTCTTTTTTTTTTGAGACGGAGTCTCCCTCTGTTGCTCAGGCTGGAATGCAGTGGCGCGATCTCGGCTCCCTGCAACCTTGGCCTCCCGGGTTCAAGAGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGAGATTACAGGCTCCCGCCACCATGCCCGGCTAATTTTTGTATTTTCAGTAGAGACAGGGTTTCGCCATGTTGGTCAGGCTGGTCTCCAACTCCTGACATTGAGTGATCCGCCTGCCTCAGCCTCTCAAAGTGCTGGGATTATAGGCGTGAGCCATTGCACGCGGCCGGGAGACCTCCTTCCTAACGCACGAGCTCCGGACCATGTCGGGAGGAGACGAGGAAGCTGGGATCGGGTGAACGGAGCCCGGGCCAAGATGTCTGTCTTTGCAGGAGATAGAGGAACAAGCGTTCTGAGCAGCCTCAGAGCACAGAATGAGAACCAAGAGTAGAGGGCAGAAGGCTCAGCACAAAAGCTGCATCAGGTAGGCACGGTGGTGCACGTTTGCAGTCCCAGCTACTTGGGAGGCTGAGACACGAGAACTGCTTGAACCCGGGAGGGGGAGATTGCAGTGAACTGAGATCTTGCCACTGCACTCCAGCCTGGGCAGCAGAGGGAGGCTCTGTCTCAAAACAAAACAAACCAAAAAACAAAAAAAACAAAAAATAAGCATGACCAGCCTGGGCAACAAAGTGAGACCTATAGCCGAGCACAGTGGCTCATGCCTGTAGTTCTAGTTACTCAGGAGGCTGAGCCCAGGAGGTCGAGACTGCAGTGAGCCATGATCGTGACAATGTACTCCAGCCTGGGTGACAGAGCAAGACCTTGTTTCTACACAATAAAAAATTTCTAACAATTTAAACAAGCAAGTACATTGCACTTTATTGGGTGATTCAAGGAATCTTCAGAGGAAATTTCGACAGTAAGCTATTTTCACAAATGCCTTGACTCAGAACCAGATCCTGGAGTAACAGACAACTAAGCGCAATGCACACAGGAACCCATTGCTGTGCACAAGCAATGGAATGTAAACCATGCGCACAAATTAAAATCTTCTAGTACCCATGTTTAAAAAGAACAGGTGAACTCACTTCATTTATTTAGAGACAGGGTCCTGCTCTACCTCCCAAGCTGGGGTGCAGCGGCACGATTACAGCTCACTGCAGCCTCCAACTCCTGTCCTCAAGTGATCCTCCCACCTCAGCCTTCCTAGTAGCTAGGATCACAGGTGTGAGCCATCATGTCTGGCTCTTTTTAATTAATTAATTTTTATTATTATTATTATTTTCTGAGACAAAGTCTCATTCTGTCGCCCAGGCTGGAGTACAGTGGTGTGATCTTGGCTCACTGCAACCTCCACCTCACGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCGAAGTAGCTGGAATTACAAGCACCCGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACAAGGTTTCGCCATGTTGGTCAGGCTGCTCTTGAATTCCTG | GAGCTGCTGATACAGCAAGCATTGGGTTCATGTCCACTGCCCAGCCCATCAGGGACCACTGGAGGCTCCCCCAGAAGCCTGAGGGTCCCTGGCACACACGAGGACTGGCACTGTCTCAAGGCCCTGCTGTGGCTGTGTGAACCACACGCTTGCCTTTTTCCACCCAGTGCTTCGGGCGGAGGCGGACCTGAGCTTTCCAAGGCTGCTCCGGTTTGGAAGAGGCTGCCTGCAGTACGGGGACAGAAATAGCAAGTCCGCGGCTGCACACTTCAGGAGGGAGGGAGGGCAGCACTCTAGAGGCCAGAAGACAGAGCTGCAGAGCTAAATCCCCGCAGGAGTTGAGCCGCTGCTCCCGAGGAAGGCAGGGCCCTCAAGCACTGCTGCCACCTGCGCAGACCCACGGGACTAGGTGCAGTCACGTTCCCCCAGTTTGGGGAACTACAGGATGGTGGGCTTCCAGGAAGAGGCAGCGTTCTAGGTCTGAAAGAACACCGGTGAGGAGCTGAACACCCTGTCAACACTAAGTCCCCTACTTCTGTGTTTAAGAGCCACTGTCCCCAAGTGGTCACATCCTCCCTGTATCCCCTGGGCACTATTCTCAAACACAGAGCACAGAGGCTGCATCATGGCCCAGGAGCCCGGGATGACTAAGCACGGGGGCCGTCAGCACCAGGGCTTGCAGACTTTCAAAGGGTGGGTGACAGTCAGCTTTGTGTGTCTCCTCGGTGAGACCACGGTGCCCAGTTGTCAAACGCCAGTCTAGAGGTTGCTGGGAAGGTATGTTTTTAAGATGTGATTAACCTTTAAATTGGCAGACTCTGAGCAAAGCAGATTACTCCACCCCAGGGTGGGTGAGTCTCAGCCAATCAGCTGAAGGCCTTCAGGGAAAAGCCTGCCCAGGCGCGGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCCGAGGCAAGAGGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACACGGTGAACCCCATCTCTACTAAAAAAACAAAAATTAACTGGGTGTGGTGGCATGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCCCTTGAACCCAGGAGGTAGAGGTTGCAGTGAGCCAAGATCGCACCACTGCACTCCAGCCAATTCCTTAGAATAAATCTCTCTCTACACATACACTCAAGTATCATTAAGGACAGGGATACACTGAGAAATCCCTCTCTGGGCGATGTCGTCACTGTGCAAACACTGGAAAGCCCATTCCACACCCAGGCTCCCATGCTCTGTACAGCGCAGTGCTGAGCTGCTGTCTGTTTATTTAAATATAGAGAACCGAGGCAGGCGGATCACCTGGGGTCAAGAGTTCCAGACCAGCCTGGCCAACATGGCGAAACCCTGCCTCTACTAAAAACACAAAAAAATGAGCTGGGCCTGGTGGTGTGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAAGAGAATCCTTGAACCCAGGAGGCGGAGGTTGAAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACCCCGTCTCAAAAAGTAAAAATAAAAATAAAAATAAACATACAGAAGGCACAGCAAAAACATGGCCTGATCATCTTACGTCGCCACCGCTGCGTAGGCGGTCTGTCACTGGCTGAGCCATCGCCCTGAGGTGGCTGTACACATAGGCGCAAACACACACACGCTTCGTCTTCATCGCTTGTTTCTCTGGAGAACCATAACACACTCGCATTTCTGAAACCCCCACGTGCTAGCTTTCTGGGAATATGGATTTCAAGTGCCCTCCAGGGCAGAAAGTAGTCACTGGAGGGCACAGCTGTGTGTGGCTGGTGTGGCTGGCACGGCTCCCATCTGCCCAGAAGCTGGGCCCTTTCTCAGGACCTAGAGTCCCTGGTGGGGATGAGGGACAGAGCCTGGAGCTAATCAGAATGCAGAGACCCGGCTGCCTTCCCAACCTGCCTCCTGTTTCCAGGGGGACCTTCCCCACCACTCCCCGACCTCCCCGACCCGCAGTGCTCACCTTCCTGGCCATGATGAGGCCCGAGGGTCTGTGCTGGACTTTGGTGACCACCCCGCCGTTGCCCGCGCCCAGCTCTGAGATCCTTTCGAAGTCATCGTCTTTGAGTTCGCCGACCTTGGCTTTCTGGGTGAGAAAGGCTTCCAGCCGCTTCTTCTGCTGCTCGTCAAGTTCCAGCTCCTCCAGCTTCTTCTGCAGGTCCACCAGGTTTGCCCTGCAGAGACCCCCCAGGGTAGGGGTTAGCTACCTAGGGAGACTCCATCTGGCCGTTTGCTATGTGGCCGTGGTGCATCGGCCCCCAGGAGGACACAGACTGGATTCCTGCACTTGAGGGGTTCATGGTGTAGAAGGAAAGGATCCATGCTGTGTACCCCCATAGACACACCAATGACCAGAATCCAGGGCGGCTCCCCGGGAACTGAGGACGCTGCCTTGATCCTGTCTCAACAAGTCTAGCAGACCTCAGGACCTCAAGGATAAGCTGCAGCTCAAAGGACCCAGGAAGCCTCCGTCTTTTTCTTTTCTTTTTCTTTTTTTTTTGAGACGGAGTCTCCCTCTGTTGCTCAGGCTGGAATGCAGTGGCGCGATCTCGGCTCCCTGCAACCTTGGCCTCCCGGGTTCAAGAGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGAGATTACAGGCTCCCGCCACCATGCCCGGCTAATTTTTGTATTTTCAGTAGAGACAGGGTTTCGCCATGTTGGTCAGGCTGGTCTCCAACTCCTGACATTGAGTGATCCGCCTGCCTCAGCCTCTCAAAGTGCTGGGATTATAGGCGTGAGCCATTGCACGCGGCCGGGAGACCTCCTTCCTAACGCACGAGCTCCGGACCATGTCGGGAGGAGACGAGGAAGCTGGGATCGGGTGAACGGAGCCCGGGCCAAGATGTCTGTCTTTGCAGGAGATAGAGGAACAAGCGTTCTGAGCAGCCTCAGAGCACAGAATGAGAACCAAGAGTAGAGGGCAGAAGGCTCAGCACAAAAGCTGCATCAGGTAGGCACGGTGGTGCACGTTTGCAGTCCCAGCTACTTGGGAGGCTGAGACACGAGAACTGCTTGAACCCGGGAGGGGGAGATTGCAGTGAACTGAGATCTTGCCACTGCACTCCAGCCTGGGCAGCAGAGGGAGGCTCTGTCTCAAAACAAAACAAACCAAAAAACAAAAAAAACAAAAAATAAGCATGACCAGCCTGGGCAACAAAGTGAGACCTATAGCCGAGCACAGTGGCTCATGCCTGTAGTTCTAGTTACTCAGGAGGCTGAGCCCAGGAGGTCGAGACTGCAGTGAGCCATGATCGTGACAATGTACTCCAGCCTGGGTGACAGAGCAAGACCTTGTTTCTACACAATAAAAAATTTCTAACAATTTAAACAAGCAAGTACATTGCACTTTATTGGGTGATTCAAGGAATCTTCAGAGGAAATTTCGACAGTAAGCTATTTTCACAAATGCCTTGACTCAGAACCAGATCCTGGAGTAACAGACAACTAAGCGCAATGCACACAGGAACCCATTGCTGTGCACAAGCAATGGAATGTAAACCATGCGCACAAATTAAAATCTTCTAGTACCCATGTTTAAAAAGAACAGGTGAACTCACTTCATTTATTTAGAGACAGGGTCCTGCTCTACCTCCCAAGCTGGGGTGCAGCGGCACGATTACAGCTCACTGCAGCCTCCAACTCCTGTCCTCAAGTGATCCTCCCACCTCAGCCTTCCTAGTAGCTAGGATCACAGGTGTGAGCCATCATGTCTGGCTCTTTTTAATTAATTAATTTTTATTATTATTATTATTTTCTGAGACAAAGTCTCATTCTGTCGCCCAGGCTGGAGTACAGTGGTGTGATCTTGGCTCACTGCAACCTCCACCTCACGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCGAAGTAGCTGGAATTACAAGCACCCGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACAAGGTTTCGCCATGTTGGTCAGGCTGCTCTTGAATTCCTGN | benign | 294,248 |
Variant at chromosome 19, position 4123890, gene MAP2K2: clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | benign | CCGATCCTGACCTTTCTAGGGTCTCCCACCCCATCGTGACCCCCTAGGACACCCCTCTCCCACATCCTGACCCTTCTGGGAGCCCCCTGTCCTCCCCTCTCTTCCCTTTTCCCTGGTTGTCTATGGACCTCCTCACCCCATCCTCTCCCCTAAGGGACCCCCCTGCCCCACCTTGGCACCCTAGGTGCCCTCTTCATCCCATGCCAACCTCATTACTCAGGGACTCATTCCCCAAAAGGACCGCTCCCCGCCCCCCCAAGACCTCTCAGCCTGTCCTCCCCACCCAGGTGCTGCACTCTCAACCTGTGGCTCAGGCACCCTCCCACCCCATCTCTCCCCCATAGGAACCCTCCCACCCCATCTCTCCCCCATAGGGACCCTCCCACCCCATCTCTCCCCCATAGGGACCCTCCCACCCCATCTCTCCCCCATAGGGACCCTCCCACCCCATCTCTCCCCCACAGGGACCCCCTCACCCCATCTCTCCCCCATAGGGACCCCCTCACCCCATCTCTCCCCCATAGGGACCCTCCCACCCCATCTCTCCCCCATAGGGACCCCCTCACCCCATCTCTCCCCCATAGGAACCCTCCCACCCCATCTTTCCCCCATAGGGACCCCCTCACCCCATCTCTCCCCCAAGGGACTCGCTTCACTATCATTTCAATATGCAGAACACCCCTTGCCTATCCTTCCCCCACAGGCCCCCACCGACACATCCTCTCCTCCCAGGGACCCCCTCAACCCCATCTCACAATTCAGGGGCCCTGCACCCCATCTTCTCTCTGCAAGGACATCTCCTTGGCCTGATCTCACGACTTAGGGATTCCAAACCCCATCTTTTCCCCAAAGGGATCTCCCCTCACTCCAATCTCATTACTCAGGGACCCCACCATCTCCCCGATTTCACTATTCAGGGACCGTTCACCCCATTTCACTACTCAGAGACCTACCACCATTCTGCTACTCAGTGACTCCATGCCCTGTCTTTTCCCACAGGGACCTCCCTTGGCCCTATCTCATTATTGAGGGACCCTTACCCCGTCTTTTCCTACCAGGGACCCTACCCCATCTCAGTCTCATTACTCAGGGACCCCTCACCCCATCCTCTCCCCTCTGGAGCCCCCTTGCCCAGATTTCCTCCTCAGGGGCTGCCTGACCTCCCCACACCCCATCCTCTCCTCTCAGGAATGCCCTGCACCCCGATTTCCCTACTCAGGGTCTCCCCTCACCCTCATCTCATGACTACGGCAACCTTTACTCCGTCCTTTCCTCTTAGGAACTCTTCACCCTCATTTCACTACTCAAGGACCCCACACTGTGTTCTCTCCTCTTAGAGATACCCCTCACCCCGATCTCACTGCTTGGGGAGCCTCATCCTGTTCTCTCCTTGGGGACACCCCTCATTCCGATTTTCCTACTGAGGGACTCCCCTCACCCCAGCTTCACTTTTCAGAAGCCCCACACCCCATCTTCTGCACTGCAGGGACCTCCCCTCACTCAACCTCGCTGCTCAGGGACCCCTGTCCCCATCCTCTCCTCTTAGAGACATCCTTCACCCCAACTTCACTACTCAGAGACTCCCGTTATCCCAATTCCACTCTTCAGGAACCCCACACCCCATCTTTTCCACCACAAGGACCTCCCCTCGCCCAATCTCACTGCTCAAAGACCCCCCTGCCCCGTGCACCCTTCGCCCCGTCCTCCGAGGGCCCCCTGCCCCGTCCTCCCCCGAGGGCCCCCTGCCCCGTCCTCCCCCGAGGGTCCCCTGCCCTGTCCTCCCCTCGAGAACCCCCTGCCCCGTGCACCACTCACCCCGTCCTCCCCCGTGACCCCCCTGCCTCGTGCACTCCTCGCGAACCCCCGTCCCCTCGCCCCGTCCTTCCCCGAGGGCTCCCTGCCCCGTGCACCCCAAGCCTCCGGCTGACCCCTGCCCACTCACTCGGAGGCGCCCTCGCTGGTAGGGGATGGGCCCTCGGCGATGGTAGGGTTGATGGTGAGCGCCGGCAGCACCGGCTTCCTCCGGGCCAGCATCGGGGCTCCGCGGGCCGGCGGCGGCGGCGCCTCTAGCCGGGGCCCATAGGGGGCGGGCCGGGAGCGGTCGGCGCCTACGCGAGCCCGGGGCTGCGGCCGCGGCCCAGGCCGGCGTCGGGGCGGCCGAGGGCGGGCGGCGCTGCGGGCCTGGGCCGAGGGTAGCCGAGGGGCGCTGGGGCTGAGGCGAGCGAGCCGCTACCGCTGCCGAGGCCCGAAGAAGGCTGACGCCGCAGCCCGAGTCCGAGAGGCAGGGGGAGGGGAGGGGCGGCCACAAGATCGCGGACCGGCTTCTCGCGATAACGGGATCGGGAGCCGCGATGGACCCCACCCCCAGCCGCCGCGCCTGCGCAGCAGCACAAGGCCGCCTTTCGGAGGGGAAAGGGGCGGAGACCGACGCGAGGCGGTGCCGGGACCGGGCGCCCTCGCTTGCCTTACCACGGCGCGTGTGCCCAAGCGCTTGGGGCATGAGGCGCGGGAGCAGGGGAGGAGACGGAGGGATGAAGGCTGGGGTGATGGTCGTGCACAGGTGGGCAGGGTAGCCAGACTCCTGAGAGCCTGTGGTGCCCCAGGCTGGGGCTGAGAGAACCCGTAAGACCCCAGAACAGTGGACGAGACCCACCCAGAGTCCATTTAATCTTTTTGGCAAGCGTGGACACACGCCCCTAGCCCCCACCGCCTTAGAGTGTCAGTTACTCCCCCTCCTTCATCAGAACAAGGCCACTCTAAAACATTTTTAAAATTTATTTTAATTGACAAATAAAATTGCATATATTACTATGCGCATGTTGAAACATTTTTATTATAAAATACACATAACATAAAACTTGTCATTTTAACCATTTCTAAATGCACAGCTCAGCGGCATTAAGCAACCACCACCACCACCATCTCCAGAATTTTCTCATCTTCCGAAACTGAAACACTGTCCCCTATGAAACCTCACTCCCTATCCCCCTCCCCAGCCCCTGGAACCCAACGTCGTACTTCCTGTGAATCTGATGATTCTAGGGACTTCATATGAGTAGGATCACACAGGTTTTGTCCCTTTGTGGCTGGCATATTTCACTGAGGGCCACGTCCTCAAGGTGCCTGTTGTAGCTGTGTTAGATCCACGTTGTAACCTGTGTTAGAATTTACCCACTTGACTACTCCGGGCATACTTCCAATCGGGTAGCCCTGCTCCAAAAAAGAGCAGAAAAAAAAAAAAAAAGAAAAATTTCCCTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCCCACTGCAAACTCTGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCACCACCATGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCCATCTCCTGACCTCGTGATCCACCCGCCTCGATCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCAGTCAGGATTTTCCTCCTTTTTAAGGCTGAATAATATTCTATTGTGTGCATGGACTATATTTTGCTTATCCATTTATCTGCCACTAGACACTTCGGTGAATCGTGCCGCTATGAACACAGATGTACAAATATCTGTTTGAGTCCTTGCCTTGAGTTCTTTTGGGTATATGTTCTGAAGAGGAATTACTGGATTATATGGTAATTCTATGTTGAACTTTTTGAAGCACCACCTTACTATTTAATACAATAGCCGTACCACTTTATAAGAAAGGTCATAGGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGTCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTGAAGACGAGTCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAACAAAAAAATACAAAAATTAGCCGGGCATGGTGGCGCGTGCCTGTAATCCCAGCTACTCGCGAGGTTGAGGCAGAAGAATTGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATCACGCCATTGCACTCCAGCTTGGGAGACA | CCGATCCTGACCTTTCTAGGGTCTCCCACCCCATCGTGACCCCCTAGGACACCCCTCTCCCACATCCTGACCCTTCTGGGAGCCCCCTGTCCTCCCCTCTCTTCCCTTTTCCCTGGTTGTCTATGGACCTCCTCACCCCATCCTCTCCCCTAAGGGACCCCCCTGCCCCACCTTGGCACCCTAGGTGCCCTCTTCATCCCATGCCAACCTCATTACTCAGGGACTCATTCCCCAAAAGGACCGCTCCCCGCCCCCCCAAGACCTCTCAGCCTGTCCTCCCCACCCAGGTGCTGCACTCTCAACCTGTGGCTCAGGCACCCTCCCACCCCATCTCTCCCCCATAGGAACCCTCCCACCCCATCTCTCCCCCATAGGGACCCTCCCACCCCATCTCTCCCCCATAGGGACCCTCCCACCCCATCTCTCCCCCATAGGGACCCTCCCACCCCATCTCTCCCCCACAGGGACCCCCTCACCCCATCTCTCCCCCATAGGGACCCCCTCACCCCATCTCTCCCCCATAGGGACCCTCCCACCCCATCTCTCCCCCATAGGGACCCCCTCACCCCATCTCTCCCCCATAGGAACCCTCCCACCCCATCTTTCCCCCATAGGGACCCCCTCACCCCATCTCTCCCCCAAGGGACTCGCTTCACTATCATTTCAATATGCAGAACACCCCTTGCCTATCCTTCCCCCACAGGCCCCCACCGACACATCCTCTCCTCCCAGGGACCCCCTCAACCCCATCTCACAATTCAGGGGCCCTGCACCCCATCTTCTCTCTGCAAGGACATCTCCTTGGCCTGATCTCACGACTTAGGGATTCCAAACCCCATCTTTTCCCCAAAGGGATCTCCCCTCACTCCAATCTCATTACTCAGGGACCCCACCATCTCCCCGATTTCACTATTCAGGGACCGTTCACCCCATTTCACTACTCAGAGACCTACCACCATTCTGCTACTCAGTGACTCCATGCCCTGTCTTTTCCCACAGGGACCTCCCTTGGCCCTATCTCATTATTGAGGGACCCTTACCCCGTCTTTTCCTACCAGGGACCCTACCCCATCTCAGTCTCATTACTCAGGGACCCCTCACCCCATCCTCTCCCCTCTGGAGCCCCCTTGCCCAGATTTCCTCCTCAGGGGCTGCCTGACCTCCCCACACCCCATCCTCTCCTCTCAGGAATGCCCTGCACCCCGATTTCCCTACTCAGGGTCTCCCCTCACCCTCATCTCATGACTACGGCAACCTTTACTCCGTCCTTTCCTCTTAGGAACTCTTCACCCTCATTTCACTACTCAAGGACCCCACACTGTGTTCTCTCCTCTTAGAGATACCCCTCACCCCGATCTCACTGCTTGGGGAGCCTCATCCTGTTCTCTCCTTGGGGACACCCCTCATTCCGATTTTCCTACTGAGGGACTCCCCTCACCCCAGCTTCACTTTTCAGAAGCCCCACACCCCATCTTCTGCACTGCAGGGACCTCCCCTCACTCAACCTCGCTGCTCAGGGACCCCTGTCCCCATCCTCTCCTCTTAGAGACATCCTTCACCCCAACTTCACTACTCAGAGACTCCCGTTATCCCAATTCCACTCTTCAGGAACCCCACACCCCATCTTTTCCACCACAAGGACCTCCCCTCGCCCAATCTCACTGCTCAAAGACCCCCCTGCCCCGTGCACCCTTCGCCCCGTCCTCCGAGGGCCCCCTGCCCCGTCCTCCCCCGAGGGCCCCCTGCCCCGTCCTCCCCCGAGGGTCCCCTGCCCTGTCCTCCCCTCGAGAACCCCCTGCCCCGTGCACCACTCACCCCGTCCTCCCCCGTGACCCCCCTGCCTCGTGCACTCCTCGCGAACCCCCGTCCCCTCGCCCCGTCCTTCCCCGAGGGCTCCCTGCCCCGTGCACCCCAAGCCTCCGGCTGACCCCTGCCCACTCACTCGGAGGCGCCCTCGCTGGTAGGGGATGGGCCCTCGGCGATGGTAGGGTTGATGGTGAGCGCCGGCAGCACCGGCTTCCTCCGGGCCAGCATCGGGGCTCCGCGGGCCGGCGGCGGCGGCGGCGGCGCCTCTAGCCGGGGCCCATAGGGGGCGGGCCGGGAGCGGTCGGCGCCTACGCGAGCCCGGGGCTGCGGCCGCGGCCCAGGCCGGCGTCGGGGCGGCCGAGGGCGGGCGGCGCTGCGGGCCTGGGCCGAGGGTAGCCGAGGGGCGCTGGGGCTGAGGCGAGCGAGCCGCTACCGCTGCCGAGGCCCGAAGAAGGCTGACGCCGCAGCCCGAGTCCGAGAGGCAGGGGGAGGGGAGGGGCGGCCACAAGATCGCGGACCGGCTTCTCGCGATAACGGGATCGGGAGCCGCGATGGACCCCACCCCCAGCCGCCGCGCCTGCGCAGCAGCACAAGGCCGCCTTTCGGAGGGGAAAGGGGCGGAGACCGACGCGAGGCGGTGCCGGGACCGGGCGCCCTCGCTTGCCTTACCACGGCGCGTGTGCCCAAGCGCTTGGGGCATGAGGCGCGGGAGCAGGGGAGGAGACGGAGGGATGAAGGCTGGGGTGATGGTCGTGCACAGGTGGGCAGGGTAGCCAGACTCCTGAGAGCCTGTGGTGCCCCAGGCTGGGGCTGAGAGAACCCGTAAGACCCCAGAACAGTGGACGAGACCCACCCAGAGTCCATTTAATCTTTTTGGCAAGCGTGGACACACGCCCCTAGCCCCCACCGCCTTAGAGTGTCAGTTACTCCCCCTCCTTCATCAGAACAAGGCCACTCTAAAACATTTTTAAAATTTATTTTAATTGACAAATAAAATTGCATATATTACTATGCGCATGTTGAAACATTTTTATTATAAAATACACATAACATAAAACTTGTCATTTTAACCATTTCTAAATGCACAGCTCAGCGGCATTAAGCAACCACCACCACCACCATCTCCAGAATTTTCTCATCTTCCGAAACTGAAACACTGTCCCCTATGAAACCTCACTCCCTATCCCCCTCCCCAGCCCCTGGAACCCAACGTCGTACTTCCTGTGAATCTGATGATTCTAGGGACTTCATATGAGTAGGATCACACAGGTTTTGTCCCTTTGTGGCTGGCATATTTCACTGAGGGCCACGTCCTCAAGGTGCCTGTTGTAGCTGTGTTAGATCCACGTTGTAACCTGTGTTAGAATTTACCCACTTGACTACTCCGGGCATACTTCCAATCGGGTAGCCCTGCTCCAAAAAAGAGCAGAAAAAAAAAAAAAAAGAAAAATTTCCCTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCCCACTGCAAACTCTGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCACCACCATGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCCATCTCCTGACCTCGTGATCCACCCGCCTCGATCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCAGTCAGGATTTTCCTCCTTTTTAAGGCTGAATAATATTCTATTGTGTGCATGGACTATATTTTGCTTATCCATTTATCTGCCACTAGACACTTCGGTGAATCGTGCCGCTATGAACACAGATGTACAAATATCTGTTTGAGTCCTTGCCTTGAGTTCTTTTGGGTATATGTTCTGAAGAGGAATTACTGGATTATATGGTAATTCTATGTTGAACTTTTTGAAGCACCACCTTACTATTTAATACAATAGCCGTACCACTTTATAAGAAAGGTCATAGGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGTCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTGAAGACGAGTCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAACAAAAAAATACAAAAATTAGCCGGGCATGGTGGCGCGTGCCTGTAATCCCAGCTACTCGCGAGGTTGAGGCAGAAGAATTGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATCACGCCATTGCACTCCAGCTTGG | benign | 294,284 |
Does the genetic variant at chromosome 19, position 4544274, impacting gene SEMA6B (semaphorin 6B), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Epilepsy,_progressive_myoclonic,_11'] | TTTTTTTTGAGACAGCGTCTCGCTCTGTCACCCAGGCTGTAGTGCAGTGGTGTGATCTCAGCTCACTGCAACCTCTGACTCTCAGATTCAAGCTATTCTTCTGCCTCAGTCGGCCGAGTAGCTGGAATTACAGGAACCCGCCACCAAGCCTGGCTGATTTTTTGTATTTTTAGTAGAGACGGGGTTTTGCCATGTTGGCCAGGCTAGTCTCGAACTCTTGACCTCAAGTGATCTGCACACCTCGGCCTCCCAAAGTGCCGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTGGCCTTGACTTTTGAGGGTGCCCCCACCCGTGCCACCCCCAGGAGGCAGAGCAGAGCCAGAGTCATGGGGGCCGGTGGTTGTAAACAGAGTTTTATTGATGGGGAGGGGGCTGGGGGAGGCAAACTCCAGAGAGGGCAGAGGACCCAGCCAGCCACGTGGCATGCATGGTCAGCTGGAGGTCAGAGGGGGGAGGTCACAAGGGGACGGGTGGCATGGGACTCTCTCACCACCCTGGGGCCGTATTTACAGAGGGGCCCCACCCACCTTCGCCGCCCCCCAGGCCCCCAAGCCCTTTAGACAGCTGCTGCCGATGTGACTTCCGGGCAGGCCCTCCTCGTGTCTCCTGCCTGAAACCCCGGCATTGTCCCCGCTTCCCTCTGCAGAGTGGGGGGGGTTCAAACTCCTAACCGGCACCTCGGAGACCCCCGGGCCTTCTGGAAGCCCCAGCGTCGGCTCAGCCAACGCCCAGGCCGCTGGGGCCACCACGATCGTCGCTCGTGGACACACACCCTGCACGCGTGGCCCACTTGACACACACGCCCACAGCAGCCTTCGCTGGCACGCACACACACGCCCACCTCCCCGGCCCCTTGCACACGAACACGGCACGCACACGCACGCACACCCACACACGCCAGGGGCCTGGGTTGGGGAGGGACCTTTCCAGGGGTGGGGGAGGGCTTAGGTCTGCAGCTGTGGCCCCCCATTCCCCACCGGCGTCCAAGCCTCCCCTGCCTGCCGCCACCCCGAGAACGGAGTTGTGCAATTGGTTAGAAAACCGCAAAAGAAACCAAAACTGCAAAAAAAACCAAAACCTACGCGCATAAGGTCAACCTCAAATCCATAGCAAAGTCCTCCCGCCCACCCACCCCCAAACCGTCTCAGCGTCCTGCGGCCCCGGGTAGGGGGAGGGCGAGCTGGTTGTGCTTCCTTGTGGCGGAGGGGGCCCCCCACTCCGCGGGTGGGTCGCGGGGGGGACTTGAGCACCCACTCGGAGTTGCCCCGGGCCCCGGCGTTCTGGCACCGTCTCTCGCTCCTGGTTCCCGTGGCTGGCACTGCCAAGGCATCGGGGGGCCCCCGGCCTAGGGCACGGGGGGCGCAGTCCTGTCCGCCCCCCCATAGGGGAGGAGGTGGGCCAAGTCTGTGCCCGGCCGGGCGTGGCAGCCGCGGTGGCGGTCCCCAGGCCGGGCCTCGCCGCTGTTGAACGTGTGGGTGCGGCGCAGGGTGGCGGCCGGAGGGGCGTGGGGGCCCAGTGGCCTCCTCAGGCTGCCCGTCGGGGGCGGGCTCCAGGGCCGCGGGAGGCCATCGGCGGCTGAGGCTGGGTCCAAGGGGCCCGTGGGCGCGGACACCACCCGCCGGCGGTCCGGGCTGGCGTGGGGGGTGAGCGGGAAGTCGCCGTGGGAGGCGCGGCCGGGCCGGGCAGCATAGAGGCGGCCGTCGGGGGTCGGCTCCCCAGGCGCGGGGGGCTGCTCGGGGGCCCGGGCGGGCGCCAGCAGCAGGAGGGAGGATGAAGCGGAGGCCGGGAGCAGGGGGTGGCCGTGGTCCCAGGCGCGGGGGCCCAGGGCGTGGGGGTGCGGGTGCGGAGTGGGCAGGCGCTTCTGCGGCAGCGGCGTCTGCTCGGGCGTGGGCAGCAGCCCCGAGTCCAGGTCGTGGGGCCCGCCCTGCAGCAGCGTGGCCTTGGCCCAGCCGTTCTGCATCAGGGGCGCCAGCAGGGCCTCCGGGGGAACCCCGGCGCCACCGCCACCGCCTCCGCCCCGGCCCCCGGGACCCTGCGCCCTGCGCTCGCCCAGGCGGCTGACGCTCAGCACCGCCTCGCCCGCCCCGTGCGCCAGGATGGCCTCCTTGTCCTTGCGCCGGGCCAGCTCCCGCCGCTCACGGAGGCCCACGAACCAGCCCACGCTGAAGCCGGACACCACGGCTCCCACCACGAAGGCCGCCACCGACGACGTTACCAGCAGGTTCACCGACACCAGCCCCGCGCGGTCCTCGGAGAGGCTGGCCCGCAGGAGTCCTGGCCGGGGAGCACAGGGGGGTTAGTGGGGCCGGCGGGGTGGCCCTGGGCATCCCTCCTACCTCCTCGGGGCCCTCTGTCCTCTTTTTTATTATTTTTATTTTTTTTTATTTATTTATTTTTTGAGAAGGAGTCTTCCTTTGTGTGCCAGGCTGGAGTGCAGTGGGGCGATCTCGATTCACTGCAACCTCCGCCTCCCATGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACCACAGGTGCCCACCACCACGCCCGGCTAATTTTTGTATTTTTAGTAGGATGGGGTTTCACCACGTTGGCCAGGCTGGTCTGAACTCCTGACCTTGTGATCCGCCCACCTCTGCCTCCCAAAGTGCTGGGATTACAGGCATAAGCCACCACGACTGGCCTTATTTTTATTATTTTTTAATTTTTTTTGTTTGTTTGTTTTGAGACAGTCCCCCAGGCTAGAGTGCAGTGGTAAAGCTCACTGCAACCCTGCCTCCAGCTACCTGTTTGTTTTATTAAAGACAGGATCTGGGCCAGGCATGATGGCTCACACCCATAATCCTAGCATTTTGTGAGGCTGAGGCAGGAGATCACCTGAGGTCAGAAGTTTGAGACCAGCCTGGCCAACAAGTGAAACCCATCTCTACTAAAAATACAAATTTTAGCCGGACATGGTGGTGTGCGCCTGTAATCTCAGCTACTTGGGAGGCTGAGGCAGGAGAATCAATTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATCACACTACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAAAGACATGTTCTCACTCTGTTGCCCAAGCTGGAGTACAGTGGCCTGATCACAGCTCATTGCAGCCTCCACCTCCCTGGGCTCAAGCGATCCTCCCGCCTCAGCCTCCCAAGTAGCTGGAACTACAGGCATGCACTGCCACGTCTGGATTATTTTTGGGTTTTTGTTTTAGAGACAGGGTTTCACTATATTCCCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCGTCCTGTCTTGGCCTCTCAAAATGCTGGGATTATAGGCAGGAGCTGCCGCGCCTGGCCCCTTCTGTCCTGTTGAAGTTGGTCTGTCTGCCTTCTGTTGTCTCTTCGTCCTTGCCAAAGCCTGCCTGTTTCTTGGTGTCTCTGTTCTTCCCCTATCTCCCTCCCCAATAAATGAGATGAGACCACCCCATGCCTTTCTTTTCTTTTTTTGAGACGGAGTCTTGCTCTGTCGTCCAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACTGCAGGCTCTGCCTCCCGGATTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTAGATCTCCTGACCTCGTGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCCACCCCATGCCTTTCTAAAGTTCTCTGATGGAGTCCAGTTTCCCCACCCACCTCCCAGAGGATTCGAGGGTCCTCCAGCCTCCTCCCTCCCCTCCCCCATGGTAGTGGGGGATGGGGGTCTTAGCCTGCCGTCCCCCCAACTCACCTGTGCAGTCCCCTAAGCCTGAGGTGCTGGCCCCGGACACGTCCTGCTCAAAGGCGGCTCTAATGGGGAGAGGAGGCACCGTCAGCAGAGGCCCCTCTCACAGTCA | TTTTTTTTGAGACAGCGTCTCGCTCTGTCACCCAGGCTGTAGTGCAGTGGTGTGATCTCAGCTCACTGCAACCTCTGACTCTCAGATTCAAGCTATTCTTCTGCCTCAGTCGGCCGAGTAGCTGGAATTACAGGAACCCGCCACCAAGCCTGGCTGATTTTTTGTATTTTTAGTAGAGACGGGGTTTTGCCATGTTGGCCAGGCTAGTCTCGAACTCTTGACCTCAAGTGATCTGCACACCTCGGCCTCCCAAAGTGCCGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTGGCCTTGACTTTTGAGGGTGCCCCCACCCGTGCCACCCCCAGGAGGCAGAGCAGAGCCAGAGTCATGGGGGCCGGTGGTTGTAAACAGAGTTTTATTGATGGGGAGGGGGCTGGGGGAGGCAAACTCCAGAGAGGGCAGAGGACCCAGCCAGCCACGTGGCATGCATGGTCAGCTGGAGGTCAGAGGGGGGAGGTCACAAGGGGACGGGTGGCATGGGACTCTCTCACCACCCTGGGGCCGTATTTACAGAGGGGCCCCACCCACCTTCGCCGCCCCCCAGGCCCCCAAGCCCTTTAGACAGCTGCTGCCGATGTGACTTCCGGGCAGGCCCTCCTCGTGTCTCCTGCCTGAAACCCCGGCATTGTCCCCGCTTCCCTCTGCAGAGTGGGGGGGGTTCAAACTCCTAACCGGCACCTCGGAGACCCCCGGGCCTTCTGGAAGCCCCAGCGTCGGCTCAGCCAACGCCCAGGCCGCTGGGGCCACCACGATCGTCGCTCGTGGACACACACCCTGCACGCGTGGCCCACTTGACACACACGCCCACAGCAGCCTTCGCTGGCACGCACACACACGCCCACCTCCCCGGCCCCTTGCACACGAACACGGCACGCACACGCACGCACACCCACACACGCCAGGGGCCTGGGTTGGGGAGGGACCTTTCCAGGGGTGGGGGAGGGCTTAGGTCTGCAGCTGTGGCCCCCCATTCCCCACCGGCGTCCAAGCCTCCCCTGCCTGCCGCCACCCCGAGAACGGAGTTGTGCAATTGGTTAGAAAACCGCAAAAGAAACCAAAACTGCAAAAAAAACCAAAACCTACGCGCATAAGGTCAACCTCAAATCCATAGCAAAGTCCTCCCGCCCACCCACCCCCAAACCGTCTCAGCGTCCTGCGGCCCCGGGTAGGGGGAGGGCGAGCTGGTTGTGCTTCCTTGTGGCGGAGGGGGCCCCCCACTCCGCGGGTGGGTCGCGGGGGGGACTTGAGCACCCACTCGGAGTTGCCCCGGGCCCCGGCGTTCTGGCACCGTCTCTCGCTCCTGGTTCCCGTGGCTGGCACTGCCAAGGCATCGGGGGGCCCCCGGCCTAGGGCACGGGGGGCGCAGTCCTGTCCGCCCCCCCATAGGGGAGGAGGTGGGCCAAGTCTGTGCCCGGCCGGGCGTGGCAGCCGCGGTGGCGGTCCCCAGGCCGGGCCTCGCCGCTGTTGAACGTGTGGGTGCGGCGCAGGGTGGCGGCCGGAGGGGCGTGGGGGCCCAGTGGCCTCCTCAGGCTGCCCGTCGGGGGCGGGCTCCAGGGCCGCGGGAGGCCATCGGCGGCTGAGGCTGGGTCCAAGGGGCCCGTGGGCGCGGACACCACCCGCCGGCGGTCCGGGCTGGCGTGGGGGGTGAGCGGGAAGTCGCCGTGGGAGGCGCGGCCGGGCCGGGCAGCATAGAGGCGGCCGTCGGGGGTCGGCTCCCCAGGCGCGGGGGGCTGCTCGGGGGCCCGGGCGGGCGCCAGCAGCAGGAGGGAGGATGAAGCGGAGGCCGGGAGCAGGGGGTGGCCGTGGTCCCAGGCGCGGGGGCCCAGGGCGTGGGGGTGCGGGTGCGGAGTGGGCAGGCGCTTCTGCGGCAGCGGCGTCTGCTCGGGCGTGGGCAGCAGCCCCGAGTCCAGGTCGTGGGGCCCGCCCTGCAGCAGCGTGGCCTTGGCCCAGCCGTTCTGCATCAGGGGCGCCAGCAGGGCCTCCGGGGGAACCCCGGCGCCACCGCCACCGCCTCCGCCCCGCCCCCGGGACCCTGCGCCCTGCGCTCGCCCAGGCGGCTGACGCTCAGCACCGCCTCGCCCGCCCCGTGCGCCAGGATGGCCTCCTTGTCCTTGCGCCGGGCCAGCTCCCGCCGCTCACGGAGGCCCACGAACCAGCCCACGCTGAAGCCGGACACCACGGCTCCCACCACGAAGGCCGCCACCGACGACGTTACCAGCAGGTTCACCGACACCAGCCCCGCGCGGTCCTCGGAGAGGCTGGCCCGCAGGAGTCCTGGCCGGGGAGCACAGGGGGGTTAGTGGGGCCGGCGGGGTGGCCCTGGGCATCCCTCCTACCTCCTCGGGGCCCTCTGTCCTCTTTTTTATTATTTTTATTTTTTTTTATTTATTTATTTTTTGAGAAGGAGTCTTCCTTTGTGTGCCAGGCTGGAGTGCAGTGGGGCGATCTCGATTCACTGCAACCTCCGCCTCCCATGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACCACAGGTGCCCACCACCACGCCCGGCTAATTTTTGTATTTTTAGTAGGATGGGGTTTCACCACGTTGGCCAGGCTGGTCTGAACTCCTGACCTTGTGATCCGCCCACCTCTGCCTCCCAAAGTGCTGGGATTACAGGCATAAGCCACCACGACTGGCCTTATTTTTATTATTTTTTAATTTTTTTTGTTTGTTTGTTTTGAGACAGTCCCCCAGGCTAGAGTGCAGTGGTAAAGCTCACTGCAACCCTGCCTCCAGCTACCTGTTTGTTTTATTAAAGACAGGATCTGGGCCAGGCATGATGGCTCACACCCATAATCCTAGCATTTTGTGAGGCTGAGGCAGGAGATCACCTGAGGTCAGAAGTTTGAGACCAGCCTGGCCAACAAGTGAAACCCATCTCTACTAAAAATACAAATTTTAGCCGGACATGGTGGTGTGCGCCTGTAATCTCAGCTACTTGGGAGGCTGAGGCAGGAGAATCAATTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATCACACTACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAAAGACATGTTCTCACTCTGTTGCCCAAGCTGGAGTACAGTGGCCTGATCACAGCTCATTGCAGCCTCCACCTCCCTGGGCTCAAGCGATCCTCCCGCCTCAGCCTCCCAAGTAGCTGGAACTACAGGCATGCACTGCCACGTCTGGATTATTTTTGGGTTTTTGTTTTAGAGACAGGGTTTCACTATATTCCCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCGTCCTGTCTTGGCCTCTCAAAATGCTGGGATTATAGGCAGGAGCTGCCGCGCCTGGCCCCTTCTGTCCTGTTGAAGTTGGTCTGTCTGCCTTCTGTTGTCTCTTCGTCCTTGCCAAAGCCTGCCTGTTTCTTGGTGTCTCTGTTCTTCCCCTATCTCCCTCCCCAATAAATGAGATGAGACCACCCCATGCCTTTCTTTTCTTTTTTTGAGACGGAGTCTTGCTCTGTCGTCCAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACTGCAGGCTCTGCCTCCCGGATTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTAGATCTCCTGACCTCGTGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCCACCCCATGCCTTTCTAAAGTTCTCTGATGGAGTCCAGTTTCCCCACCCACCTCCCAGAGGATTCGAGGGTCCTCCAGCCTCCTCCCTCCCCTCCCCCATGGTAGTGGGGGATGGGGGTCTTAGCCTGCCGTCCCCCCAACTCACCTGTGCAGTCCCCTAAGCCTGAGGTGCTGGCCCCGGACACGTCCTGCTCAAAGGCGGCTCTAATGGGGAGAGGAGGCACCGTCAGCAGAGGCCCCTCTCACAGTCAN | pathogenic | 294,345 |
Is the variant located on chromosome 19 at position 4544276, gene SEMA6B (semaphorin 6B), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Epilepsy,_progressive_myoclonic,_11'] | TTTTTTGAGACAGCGTCTCGCTCTGTCACCCAGGCTGTAGTGCAGTGGTGTGATCTCAGCTCACTGCAACCTCTGACTCTCAGATTCAAGCTATTCTTCTGCCTCAGTCGGCCGAGTAGCTGGAATTACAGGAACCCGCCACCAAGCCTGGCTGATTTTTTGTATTTTTAGTAGAGACGGGGTTTTGCCATGTTGGCCAGGCTAGTCTCGAACTCTTGACCTCAAGTGATCTGCACACCTCGGCCTCCCAAAGTGCCGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTGGCCTTGACTTTTGAGGGTGCCCCCACCCGTGCCACCCCCAGGAGGCAGAGCAGAGCCAGAGTCATGGGGGCCGGTGGTTGTAAACAGAGTTTTATTGATGGGGAGGGGGCTGGGGGAGGCAAACTCCAGAGAGGGCAGAGGACCCAGCCAGCCACGTGGCATGCATGGTCAGCTGGAGGTCAGAGGGGGGAGGTCACAAGGGGACGGGTGGCATGGGACTCTCTCACCACCCTGGGGCCGTATTTACAGAGGGGCCCCACCCACCTTCGCCGCCCCCCAGGCCCCCAAGCCCTTTAGACAGCTGCTGCCGATGTGACTTCCGGGCAGGCCCTCCTCGTGTCTCCTGCCTGAAACCCCGGCATTGTCCCCGCTTCCCTCTGCAGAGTGGGGGGGGTTCAAACTCCTAACCGGCACCTCGGAGACCCCCGGGCCTTCTGGAAGCCCCAGCGTCGGCTCAGCCAACGCCCAGGCCGCTGGGGCCACCACGATCGTCGCTCGTGGACACACACCCTGCACGCGTGGCCCACTTGACACACACGCCCACAGCAGCCTTCGCTGGCACGCACACACACGCCCACCTCCCCGGCCCCTTGCACACGAACACGGCACGCACACGCACGCACACCCACACACGCCAGGGGCCTGGGTTGGGGAGGGACCTTTCCAGGGGTGGGGGAGGGCTTAGGTCTGCAGCTGTGGCCCCCCATTCCCCACCGGCGTCCAAGCCTCCCCTGCCTGCCGCCACCCCGAGAACGGAGTTGTGCAATTGGTTAGAAAACCGCAAAAGAAACCAAAACTGCAAAAAAAACCAAAACCTACGCGCATAAGGTCAACCTCAAATCCATAGCAAAGTCCTCCCGCCCACCCACCCCCAAACCGTCTCAGCGTCCTGCGGCCCCGGGTAGGGGGAGGGCGAGCTGGTTGTGCTTCCTTGTGGCGGAGGGGGCCCCCCACTCCGCGGGTGGGTCGCGGGGGGGACTTGAGCACCCACTCGGAGTTGCCCCGGGCCCCGGCGTTCTGGCACCGTCTCTCGCTCCTGGTTCCCGTGGCTGGCACTGCCAAGGCATCGGGGGGCCCCCGGCCTAGGGCACGGGGGGCGCAGTCCTGTCCGCCCCCCCATAGGGGAGGAGGTGGGCCAAGTCTGTGCCCGGCCGGGCGTGGCAGCCGCGGTGGCGGTCCCCAGGCCGGGCCTCGCCGCTGTTGAACGTGTGGGTGCGGCGCAGGGTGGCGGCCGGAGGGGCGTGGGGGCCCAGTGGCCTCCTCAGGCTGCCCGTCGGGGGCGGGCTCCAGGGCCGCGGGAGGCCATCGGCGGCTGAGGCTGGGTCCAAGGGGCCCGTGGGCGCGGACACCACCCGCCGGCGGTCCGGGCTGGCGTGGGGGGTGAGCGGGAAGTCGCCGTGGGAGGCGCGGCCGGGCCGGGCAGCATAGAGGCGGCCGTCGGGGGTCGGCTCCCCAGGCGCGGGGGGCTGCTCGGGGGCCCGGGCGGGCGCCAGCAGCAGGAGGGAGGATGAAGCGGAGGCCGGGAGCAGGGGGTGGCCGTGGTCCCAGGCGCGGGGGCCCAGGGCGTGGGGGTGCGGGTGCGGAGTGGGCAGGCGCTTCTGCGGCAGCGGCGTCTGCTCGGGCGTGGGCAGCAGCCCCGAGTCCAGGTCGTGGGGCCCGCCCTGCAGCAGCGTGGCCTTGGCCCAGCCGTTCTGCATCAGGGGCGCCAGCAGGGCCTCCGGGGGAACCCCGGCGCCACCGCCACCGCCTCCGCCCCGGCCCCCGGGACCCTGCGCCCTGCGCTCGCCCAGGCGGCTGACGCTCAGCACCGCCTCGCCCGCCCCGTGCGCCAGGATGGCCTCCTTGTCCTTGCGCCGGGCCAGCTCCCGCCGCTCACGGAGGCCCACGAACCAGCCCACGCTGAAGCCGGACACCACGGCTCCCACCACGAAGGCCGCCACCGACGACGTTACCAGCAGGTTCACCGACACCAGCCCCGCGCGGTCCTCGGAGAGGCTGGCCCGCAGGAGTCCTGGCCGGGGAGCACAGGGGGGTTAGTGGGGCCGGCGGGGTGGCCCTGGGCATCCCTCCTACCTCCTCGGGGCCCTCTGTCCTCTTTTTTATTATTTTTATTTTTTTTTATTTATTTATTTTTTGAGAAGGAGTCTTCCTTTGTGTGCCAGGCTGGAGTGCAGTGGGGCGATCTCGATTCACTGCAACCTCCGCCTCCCATGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACCACAGGTGCCCACCACCACGCCCGGCTAATTTTTGTATTTTTAGTAGGATGGGGTTTCACCACGTTGGCCAGGCTGGTCTGAACTCCTGACCTTGTGATCCGCCCACCTCTGCCTCCCAAAGTGCTGGGATTACAGGCATAAGCCACCACGACTGGCCTTATTTTTATTATTTTTTAATTTTTTTTGTTTGTTTGTTTTGAGACAGTCCCCCAGGCTAGAGTGCAGTGGTAAAGCTCACTGCAACCCTGCCTCCAGCTACCTGTTTGTTTTATTAAAGACAGGATCTGGGCCAGGCATGATGGCTCACACCCATAATCCTAGCATTTTGTGAGGCTGAGGCAGGAGATCACCTGAGGTCAGAAGTTTGAGACCAGCCTGGCCAACAAGTGAAACCCATCTCTACTAAAAATACAAATTTTAGCCGGACATGGTGGTGTGCGCCTGTAATCTCAGCTACTTGGGAGGCTGAGGCAGGAGAATCAATTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATCACACTACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAAAGACATGTTCTCACTCTGTTGCCCAAGCTGGAGTACAGTGGCCTGATCACAGCTCATTGCAGCCTCCACCTCCCTGGGCTCAAGCGATCCTCCCGCCTCAGCCTCCCAAGTAGCTGGAACTACAGGCATGCACTGCCACGTCTGGATTATTTTTGGGTTTTTGTTTTAGAGACAGGGTTTCACTATATTCCCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCGTCCTGTCTTGGCCTCTCAAAATGCTGGGATTATAGGCAGGAGCTGCCGCGCCTGGCCCCTTCTGTCCTGTTGAAGTTGGTCTGTCTGCCTTCTGTTGTCTCTTCGTCCTTGCCAAAGCCTGCCTGTTTCTTGGTGTCTCTGTTCTTCCCCTATCTCCCTCCCCAATAAATGAGATGAGACCACCCCATGCCTTTCTTTTCTTTTTTTGAGACGGAGTCTTGCTCTGTCGTCCAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACTGCAGGCTCTGCCTCCCGGATTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTAGATCTCCTGACCTCGTGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCCACCCCATGCCTTTCTAAAGTTCTCTGATGGAGTCCAGTTTCCCCACCCACCTCCCAGAGGATTCGAGGGTCCTCCAGCCTCCTCCCTCCCCTCCCCCATGGTAGTGGGGGATGGGGGTCTTAGCCTGCCGTCCCCCCAACTCACCTGTGCAGTCCCCTAAGCCTGAGGTGCTGGCCCCGGACACGTCCTGCTCAAAGGCGGCTCTAATGGGGAGAGGAGGCACCGTCAGCAGAGGCCCCTCTCACAGTCAGA 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TTTTTTGAGACAGCGTCTCGCTCTGTCACCCAGGCTGTAGTGCAGTGGTGTGATCTCAGCTCACTGCAACCTCTGACTCTCAGATTCAAGCTATTCTTCTGCCTCAGTCGGCCGAGTAGCTGGAATTACAGGAACCCGCCACCAAGCCTGGCTGATTTTTTGTATTTTTAGTAGAGACGGGGTTTTGCCATGTTGGCCAGGCTAGTCTCGAACTCTTGACCTCAAGTGATCTGCACACCTCGGCCTCCCAAAGTGCCGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTGGCCTTGACTTTTGAGGGTGCCCCCACCCGTGCCACCCCCAGGAGGCAGAGCAGAGCCAGAGTCATGGGGGCCGGTGGTTGTAAACAGAGTTTTATTGATGGGGAGGGGGCTGGGGGAGGCAAACTCCAGAGAGGGCAGAGGACCCAGCCAGCCACGTGGCATGCATGGTCAGCTGGAGGTCAGAGGGGGGAGGTCACAAGGGGACGGGTGGCATGGGACTCTCTCACCACCCTGGGGCCGTATTTACAGAGGGGCCCCACCCACCTTCGCCGCCCCCCAGGCCCCCAAGCCCTTTAGACAGCTGCTGCCGATGTGACTTCCGGGCAGGCCCTCCTCGTGTCTCCTGCCTGAAACCCCGGCATTGTCCCCGCTTCCCTCTGCAGAGTGGGGGGGGTTCAAACTCCTAACCGGCACCTCGGAGACCCCCGGGCCTTCTGGAAGCCCCAGCGTCGGCTCAGCCAACGCCCAGGCCGCTGGGGCCACCACGATCGTCGCTCGTGGACACACACCCTGCACGCGTGGCCCACTTGACACACACGCCCACAGCAGCCTTCGCTGGCACGCACACACACGCCCACCTCCCCGGCCCCTTGCACACGAACACGGCACGCACACGCACGCACACCCACACACGCCAGGGGCCTGGGTTGGGGAGGGACCTTTCCAGGGGTGGGGGAGGGCTTAGGTCTGCAGCTGTGGCCCCCCATTCCCCACCGGCGTCCAAGCCTCCCCTGCCTGCCGCCACCCCGAGAACGGAGTTGTGCAATTGGTTAGAAAACCGCAAAAGAAACCAAAACTGCAAAAAAAACCAAAACCTACGCGCATAAGGTCAACCTCAAATCCATAGCAAAGTCCTCCCGCCCACCCACCCCCAAACCGTCTCAGCGTCCTGCGGCCCCGGGTAGGGGGAGGGCGAGCTGGTTGTGCTTCCTTGTGGCGGAGGGGGCCCCCCACTCCGCGGGTGGGTCGCGGGGGGGACTTGAGCACCCACTCGGAGTTGCCCCGGGCCCCGGCGTTCTGGCACCGTCTCTCGCTCCTGGTTCCCGTGGCTGGCACTGCCAAGGCATCGGGGGGCCCCCGGCCTAGGGCACGGGGGGCGCAGTCCTGTCCGCCCCCCCATAGGGGAGGAGGTGGGCCAAGTCTGTGCCCGGCCGGGCGTGGCAGCCGCGGTGGCGGTCCCCAGGCCGGGCCTCGCCGCTGTTGAACGTGTGGGTGCGGCGCAGGGTGGCGGCCGGAGGGGCGTGGGGGCCCAGTGGCCTCCTCAGGCTGCCCGTCGGGGGCGGGCTCCAGGGCCGCGGGAGGCCATCGGCGGCTGAGGCTGGGTCCAAGGGGCCCGTGGGCGCGGACACCACCCGCCGGCGGTCCGGGCTGGCGTGGGGGGTGAGCGGGAAGTCGCCGTGGGAGGCGCGGCCGGGCCGGGCAGCATAGAGGCGGCCGTCGGGGGTCGGCTCCCCAGGCGCGGGGGGCTGCTCGGGGGCCCGGGCGGGCGCCAGCAGCAGGAGGGAGGATGAAGCGGAGGCCGGGAGCAGGGGGTGGCCGTGGTCCCAGGCGCGGGGGCCCAGGGCGTGGGGGTGCGGGTGCGGAGTGGGCAGGCGCTTCTGCGGCAGCGGCGTCTGCTCGGGCGTGGGCAGCAGCCCCGAGTCCAGGTCGTGGGGCCCGCCCTGCAGCAGCGTGGCCTTGGCCCAGCCGTTCTGCATCAGGGGCGCCAGCAGGGCCTCCGGGGGAACCCCGGCGCCACCGCCACCGCCTCCGCCCCGGCCCCGGGACCCTGCGCCCTGCGCTCGCCCAGGCGGCTGACGCTCAGCACCGCCTCGCCCGCCCCGTGCGCCAGGATGGCCTCCTTGTCCTTGCGCCGGGCCAGCTCCCGCCGCTCACGGAGGCCCACGAACCAGCCCACGCTGAAGCCGGACACCACGGCTCCCACCACGAAGGCCGCCACCGACGACGTTACCAGCAGGTTCACCGACACCAGCCCCGCGCGGTCCTCGGAGAGGCTGGCCCGCAGGAGTCCTGGCCGGGGAGCACAGGGGGGTTAGTGGGGCCGGCGGGGTGGCCCTGGGCATCCCTCCTACCTCCTCGGGGCCCTCTGTCCTCTTTTTTATTATTTTTATTTTTTTTTATTTATTTATTTTTTGAGAAGGAGTCTTCCTTTGTGTGCCAGGCTGGAGTGCAGTGGGGCGATCTCGATTCACTGCAACCTCCGCCTCCCATGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACCACAGGTGCCCACCACCACGCCCGGCTAATTTTTGTATTTTTAGTAGGATGGGGTTTCACCACGTTGGCCAGGCTGGTCTGAACTCCTGACCTTGTGATCCGCCCACCTCTGCCTCCCAAAGTGCTGGGATTACAGGCATAAGCCACCACGACTGGCCTTATTTTTATTATTTTTTAATTTTTTTTGTTTGTTTGTTTTGAGACAGTCCCCCAGGCTAGAGTGCAGTGGTAAAGCTCACTGCAACCCTGCCTCCAGCTACCTGTTTGTTTTATTAAAGACAGGATCTGGGCCAGGCATGATGGCTCACACCCATAATCCTAGCATTTTGTGAGGCTGAGGCAGGAGATCACCTGAGGTCAGAAGTTTGAGACCAGCCTGGCCAACAAGTGAAACCCATCTCTACTAAAAATACAAATTTTAGCCGGACATGGTGGTGTGCGCCTGTAATCTCAGCTACTTGGGAGGCTGAGGCAGGAGAATCAATTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATCACACTACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAAAGACATGTTCTCACTCTGTTGCCCAAGCTGGAGTACAGTGGCCTGATCACAGCTCATTGCAGCCTCCACCTCCCTGGGCTCAAGCGATCCTCCCGCCTCAGCCTCCCAAGTAGCTGGAACTACAGGCATGCACTGCCACGTCTGGATTATTTTTGGGTTTTTGTTTTAGAGACAGGGTTTCACTATATTCCCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCGTCCTGTCTTGGCCTCTCAAAATGCTGGGATTATAGGCAGGAGCTGCCGCGCCTGGCCCCTTCTGTCCTGTTGAAGTTGGTCTGTCTGCCTTCTGTTGTCTCTTCGTCCTTGCCAAAGCCTGCCTGTTTCTTGGTGTCTCTGTTCTTCCCCTATCTCCCTCCCCAATAAATGAGATGAGACCACCCCATGCCTTTCTTTTCTTTTTTTGAGACGGAGTCTTGCTCTGTCGTCCAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACTGCAGGCTCTGCCTCCCGGATTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTAGATCTCCTGACCTCGTGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCCACCCCATGCCTTTCTAAAGTTCTCTGATGGAGTCCAGTTTCCCCACCCACCTCCCAGAGGATTCGAGGGTCCTCCAGCCTCCTCCCTCCCCTCCCCCATGGTAGTGGGGGATGGGGGTCTTAGCCTGCCGTCCCCCCAACTCACCTGTGCAGTCCCCTAAGCCTGAGGTGCTGGCCCCGGACACGTCCTGCTCAAAGGCGGCTCTAATGGGGAGAGGAGGCACCGTCAGCAGAGGCCCCTCTCACAGTCAGAN | pathogenic | 294,346 |
Clinical classification of chromosome 19, position 4548090, gene SEMA6B (semaphorin 6B): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Epilepsy,_progressive_myoclonic,_11'] | ATTACAGGCGTGAGCCACCGCGCCCGGCCCACCCCATGCCTTTCTAAAGTTCTCTGATGGAGTCCAGTTTCCCCACCCACCTCCCAGAGGATTCGAGGGTCCTCCAGCCTCCTCCCTCCCCTCCCCCATGGTAGTGGGGGATGGGGGTCTTAGCCTGCCGTCCCCCCAACTCACCTGTGCAGTCCCCTAAGCCTGAGGTGCTGGCCCCGGACACGTCCTGCTCAAAGGCGGCTCTAATGGGGAGAGGAGGCACCGTCAGCAGAGGCCCCTCTCACAGTCAGAGATCAGGGGGATCTGGGATCATGGGCGGGTCTGACACACCCTCCACCCACCTCCCTCTCCCGCAGTACCTGGTGCCCGGGCTGAGGAAGATGCAGGAGCCGTCGGGGGCCCACCCGCAGTAGGGGTCCTGACTGCCGATACAGTTCCTAGAGCAGACCAGGGACCGAATGGGACAAGTGTCCAAGTCACTTACACAACCCCAATGGTGATGGTGACCTGTGGGCCCTGTTCCAAGCACCTGCCTCTTTATTTTTATTTTAATTAATTAATTTTTGAGACGGAATTTCGCTCTTGTTGTTTATTTATTTAGTTATTTTTGAGATGGAATTTCGCTCTTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATTTTGGTTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCCCCCGAGTAGCTGGGATTACAGGCACGCGCCACCATACTTAGCTAATTTTTGCATTTTTATCAGAGACAGGGTTTCACCAGGTTGGTCTTGAACTCCTGACCTCAAGTGATCCACCCGCCTCGGACTCCCAAAGTGGTGGGATTACAGGTGTGAGCCACCACGGCTGGCGTTTTCTTATTTTAAAATTAAAAAAATTTTTTTAAATTAAAATTTAATTTTTTTTTTCTTTAAGAGACAGGGTCATGCTCTGTCACCCAGGCTGGAGTACAGTGTCATGATCATAGTTCACTGCAGCCTCAACCTCCCAGGCTCAAGTGATCCTCCTGCCTCAGCTTTCTGGGTAGCTGGGACCACAGGTGTGTGCCACCACGCCCAGCTGATTTTTGCATTTTTTTTTTTTTTAGAGACAGGCTCTCACTATGCTGTGTTGCCCAGGCTGGTCTCGAACTCCTCGGCTCAAGGAGTCCTCCTGCCTTGGCCTCCCAAGTGCTGGGATGACAGACGTGAGCTACCAAGCCCAGTCCCTCTTCTTAATAGCAACTTCTGGAGTCCTTAGAACAAATCTGTGTGCAGGGCACTGTTCACTCCCCACTTTACAGATAAGCAAACTGACGCTCCAGAAAGTAAATGTTTGCCCAAGTGGCAGAGCTGAGATGGGAGCCCAGGCATCGTGCCAGAGGCTGTGCCCTTGGACTCGGAGCTACTGGGTCATTGTTGCAATAACGGCGGGCAGGAAGCAGGGTCCTCCGCATTGACGGCTCACATGGAGTGCAGGCGTGTGCCAGCACTGGCATGCATCCTAGCTTTCCTCCCATTTTAGAGACGGGGAAACAGCCTCCACCCTGGTCCCTGGTTCTCCTTCCCCTGCAGTCTCCTCCTGGCAGCAGCCACCAGAGGGCACCTGTAAGCACCTGAGTCAGGGCCAGTCCCTCCTCTGCCTGCAACCCTACATGGCTCCCATCTCCTTCAAGGTCAAAGCCCAAGTCCTCCCCGAGGCTCACAAAGCTCTGCACAAACTGCCTCGTCCTCTCCCATCCCCTCCCCGTCCTCCCCTCCTCCCTCACTCCCCCTTGCTCACTGTGCTCCAGCCACACCGGCCACCTTGCTGTTCTTCCAACACACCAGGAGTGGTCCTGCCCGCGGGCCTTTGCACGGGCCATGCCCTCTGCCCAGCTCAATGACCAGGACATCATTGGGCTTTTGACTGGAACCCAGCTGTCCCTCCCTGTGCCCATCCTCCCTTGCTTCCCGCCCACGGCTGGCCTGGGGTGGACACTCACTTCATACACCCCGAGTACTGCTGGCAGCGAGCCACAGGCACTCGGACCACGCAGCGGGGGAAGGCAGCCAGCAGGCCCCCCGAAGCTGCGTCCAGCTCCAAGCTCAGCAGCCGCTGCCCTGTCTCGCCACCGCCGGGCCGTCCACACCTGGGGACAAGCAGAGTGGTGAGGCTGAGCGCATCTCAGCCCATCTCCCCTCCTGCTGGCGACCCCTTCCCACCTTTGCCCAGACTTACCTGTCCGGCCGGTAGGTCTCAAACTCCTCCAGGAAGACACTGAGCCCAGACGTCCCTGAGGTGCTGGCATTGGGCCGGACGAGGAACTTGAGGACCGTCCCCGCCTCAGAACCCAGGAAGACAACGGTCTGGTTGCCCCAGGGGCCGGCTCCCACGTCCACAGCCACTCGAGTCAGCTGGTGCCTGGGGGACAGGGCAGGGGAGGGTCAGGCTGGCCCCATATCACCACATGCCACCAACACGGGCATGGCCATAGTTACACGGGTGCATACAGACACTGACACACCAACACATGTGACAGCAATAAATGCGTGTGTGCATGGATGCCGGGGACATGCGTGACTACACAGGCACGTGGGCACACTCGCCCTTTTTTGAAACATAACCCCAAACCAGGCTCTCCTCAGCCCTGTCTCTTTGGTTGAGATGGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCGCAATCTCAGCTCATTGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCTTGCCTCAGCCTCCTGAGTAGCAGGGACTACAGGCACACGCCATCACGCCTGGCAAGTTTATGTTTTGTTTTTTTTGAGACAGAGTCTCACTCTGTTGCCCAGGCTGCAGTGTAGTGGCTCGATCTCGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCACACCACCACACCGAGCTGATTTTCTTTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATTTGGCCAGGCTGGTTTCAAACTCCTGACCTCAAGTGATCCTCCCGTCTTAGCCTCTCAAAGTGCTGGGATTACAGGCATGAGCCACTGTGCCCAGCCCCGCTTTCTCCTGATATGTATGTGTGTCTGTGTATCTTTCAGTCTCTTTCTCTCTTTGTCTCTCTTCCCTATCTCTGTCTCTCTGGGTGTCTGTCTGTCTCTGATTGTCTCTCTCCCTGTCTCTCTGTCTCTTTCCCCCTTTGTTCTCCTGGTGTGTGTCTGTCTGTCTACCTCTTTTTTTTTTTTTTTTTTTTTGAGGTGTAGTCTCCCTCTGGCCCCAGGTTGGAGTGCAGTGGCGTGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCACCACCACGCCTGGCTAATTTTTGTATTTTATTTTATTTTATTTTTGAGACGGAGTTTCGCTCTTTCGCCCAGGCGGGACTGCAGTGGCGTGATCTTGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCTGCCACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAACCAAGATGGTCTCCATCTCCTGGCCTCGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCCGGCCAATTTTTGTATTTTAAGTAGAGACGAGGTTTCTCCATGTTGGCCAGGGTGGTCTCGAATTCCTGGCCTTAGGTGATCTGGCAGCCTCGGCCTCCCAAAGTGCTGGGATTACAAGCATGAGCCACCGTGCCCAGCCCCATCTGTCACCTCTTGATCCCTCTGTCTCTCTCTTTGTTCTCTCTTTCCTAGTGTCTCTCCATCTTTCCCTCTCTGTCTCTCTGTGTCTCCAGCTCTCTGGGCAGCGCCGGAAGCCATGGGCTCATCTGTGTTGAGCATCTGGATCCTCTCACCCTCCATCTACCCCATCCTGTCTCCCCTCGCCATGCCCTGCCTCTCCAGGACCGACCTCATCAGGGTCCGC | ATTACAGGCGTGAGCCACCGCGCCCGGCCCACCCCATGCCTTTCTAAAGTTCTCTGATGGAGTCCAGTTTCCCCACCCACCTCCCAGAGGATTCGAGGGTCCTCCAGCCTCCTCCCTCCCCTCCCCCATGGTAGTGGGGGATGGGGGTCTTAGCCTGCCGTCCCCCCAACTCACCTGTGCAGTCCCCTAAGCCTGAGGTGCTGGCCCCGGACACGTCCTGCTCAAAGGCGGCTCTAATGGGGAGAGGAGGCACCGTCAGCAGAGGCCCCTCTCACAGTCAGAGATCAGGGGGATCTGGGATCATGGGCGGGTCTGACACACCCTCCACCCACCTCCCTCTCCCGCAGTACCTGGTGCCCGGGCTGAGGAAGATGCAGGAGCCGTCGGGGGCCCACCCGCAGTAGGGGTCCTGACTGCCGATACAGTTCCTAGAGCAGACCAGGGACCGAATGGGACAAGTGTCCAAGTCACTTACACAACCCCAATGGTGATGGTGACCTGTGGGCCCTGTTCCAAGCACCTGCCTCTTTATTTTTATTTTAATTAATTAATTTTTGAGACGGAATTTCGCTCTTGTTGTTTATTTATTTAGTTATTTTTGAGATGGAATTTCGCTCTTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATTTTGGTTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCCCCCGAGTAGCTGGGATTACAGGCACGCGCCACCATACTTAGCTAATTTTTGCATTTTTATCAGAGACAGGGTTTCACCAGGTTGGTCTTGAACTCCTGACCTCAAGTGATCCACCCGCCTCGGACTCCCAAAGTGGTGGGATTACAGGTGTGAGCCACCACGGCTGGCGTTTTCTTATTTTAAAATTAAAAAAATTTTTTTAAATTAAAATTTAATTTTTTTTTTCTTTAAGAGACAGGGTCATGCTCTGTCACCCAGGCTGGAGTACAGTGTCATGATCATAGTTCACTGCAGCCTCAACCTCCCAGGCTCAAGTGATCCTCCTGCCTCAGCTTTCTGGGTAGCTGGGACCACAGGTGTGTGCCACCACGCCCAGCTGATTTTTGCATTTTTTTTTTTTTTAGAGACAGGCTCTCACTATGCTGTGTTGCCCAGGCTGGTCTCGAACTCCTCGGCTCAAGGAGTCCTCCTGCCTTGGCCTCCCAAGTGCTGGGATGACAGACGTGAGCTACCAAGCCCAGTCCCTCTTCTTAATAGCAACTTCTGGAGTCCTTAGAACAAATCTGTGTGCAGGGCACTGTTCACTCCCCACTTTACAGATAAGCAAACTGACGCTCCAGAAAGTAAATGTTTGCCCAAGTGGCAGAGCTGAGATGGGAGCCCAGGCATCGTGCCAGAGGCTGTGCCCTTGGACTCGGAGCTACTGGGTCATTGTTGCAATAACGGCGGGCAGGAAGCAGGGTCCTCCGCATTGACGGCTCACATGGAGTGCAGGCGTGTGCCAGCACTGGCATGCATCCTAGCTTTCCTCCCATTTTAGAGACGGGGAAACAGCCTCCACCCTGGTCCCTGGTTCTCCTTCCCCTGCAGTCTCCTCCTGGCAGCAGCCACCAGAGGGCACCTGTAAGCACCTGAGTCAGGGCCAGTCCCTCCTCTGCCTGCAACCCTACATGGCTCCCATCTCCTTCAAGGTCAAAGCCCAAGTCCTCCCCGAGGCTCACAAAGCTCTGCACAAACTGCCTCGTCCTCTCCCATCCCCTCCCCGTCCTCCCCTCCTCCCTCACTCCCCCTTGCTCACTGTGCTCCAGCCACACCGGCCACCTTGCTGTTCTTCCAACACACCAGGAGTGGTCCTGCCCGCGGGCCTTTGCACGGGCCATGCCCTCTGCCCAGCTCAATGACCAGGACATCATTGGGCTTTTGACTGGAACCCAGCTGTCCCTCCCTGTGCCCATCCTCCCTTGCTTCCCGCCCACGGCTGGCCTGGGGTGGACACTCACTTCATACACCCCGAGTACTGCTGGCAGCGAGCCACAGGCACTCGGACCACGCAGCGGGGGAAGGCAGCAGGCCCCCCGAAGCTGCGTCCAGCTCCAAGCTCAGCAGCCGCTGCCCTGTCTCGCCACCGCCGGGCCGTCCACACCTGGGGACAAGCAGAGTGGTGAGGCTGAGCGCATCTCAGCCCATCTCCCCTCCTGCTGGCGACCCCTTCCCACCTTTGCCCAGACTTACCTGTCCGGCCGGTAGGTCTCAAACTCCTCCAGGAAGACACTGAGCCCAGACGTCCCTGAGGTGCTGGCATTGGGCCGGACGAGGAACTTGAGGACCGTCCCCGCCTCAGAACCCAGGAAGACAACGGTCTGGTTGCCCCAGGGGCCGGCTCCCACGTCCACAGCCACTCGAGTCAGCTGGTGCCTGGGGGACAGGGCAGGGGAGGGTCAGGCTGGCCCCATATCACCACATGCCACCAACACGGGCATGGCCATAGTTACACGGGTGCATACAGACACTGACACACCAACACATGTGACAGCAATAAATGCGTGTGTGCATGGATGCCGGGGACATGCGTGACTACACAGGCACGTGGGCACACTCGCCCTTTTTTGAAACATAACCCCAAACCAGGCTCTCCTCAGCCCTGTCTCTTTGGTTGAGATGGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCGCAATCTCAGCTCATTGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCTTGCCTCAGCCTCCTGAGTAGCAGGGACTACAGGCACACGCCATCACGCCTGGCAAGTTTATGTTTTGTTTTTTTTGAGACAGAGTCTCACTCTGTTGCCCAGGCTGCAGTGTAGTGGCTCGATCTCGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCACACCACCACACCGAGCTGATTTTCTTTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATTTGGCCAGGCTGGTTTCAAACTCCTGACCTCAAGTGATCCTCCCGTCTTAGCCTCTCAAAGTGCTGGGATTACAGGCATGAGCCACTGTGCCCAGCCCCGCTTTCTCCTGATATGTATGTGTGTCTGTGTATCTTTCAGTCTCTTTCTCTCTTTGTCTCTCTTCCCTATCTCTGTCTCTCTGGGTGTCTGTCTGTCTCTGATTGTCTCTCTCCCTGTCTCTCTGTCTCTTTCCCCCTTTGTTCTCCTGGTGTGTGTCTGTCTGTCTACCTCTTTTTTTTTTTTTTTTTTTTTGAGGTGTAGTCTCCCTCTGGCCCCAGGTTGGAGTGCAGTGGCGTGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCACCACCACGCCTGGCTAATTTTTGTATTTTATTTTATTTTATTTTTGAGACGGAGTTTCGCTCTTTCGCCCAGGCGGGACTGCAGTGGCGTGATCTTGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCTGCCACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAACCAAGATGGTCTCCATCTCCTGGCCTCGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCCGGCCAATTTTTGTATTTTAAGTAGAGACGAGGTTTCTCCATGTTGGCCAGGGTGGTCTCGAATTCCTGGCCTTAGGTGATCTGGCAGCCTCGGCCTCCCAAAGTGCTGGGATTACAAGCATGAGCCACCGTGCCCAGCCCCATCTGTCACCTCTTGATCCCTCTGTCTCTCTCTTTGTTCTCTCTTTCCTAGTGTCTCTCCATCTTTCCCTCTCTGTCTCTCTGTGTCTCCAGCTCTCTGGGCAGCGCCGGAAGCCATGGGCTCATCTGTGTTGAGCATCTGGATCCTCTCACCCTCCATCTACCCCATCCTGTCTCCCCTCGCCATGCCCTGCCTCTCCAGGACCGACCTCATCAGGGTCCGCNNNN | pathogenic | 294,350 |
The chromosome 19, position 5711908 genetic variant in gene LONP1 (lon peptidase 1, mitochondrial): benign or pathogenic? If pathogenic, indicate disease(s). | benign | CGAGATCACGCCACTGCACTCCAGCCTGGGCGACAGAGGCTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAGAACAAGTTCGCTGCCCCTAAGGGGTCTTGCCAGTTCTAATCACATTTGTAAGTTTGGTCGCTGTCTTCCCCCTGTTGCAAGATTCTCACAGGGAATGCCCCAATGCTGAGCTGCCCAGGACAGTGTAGCCGCTGGTGGCTGTCTGAATTTTTTTTTTTTTTTTTTGAGACAGAGTTTTGCTCTTGTTGCCCAGGCTGGAATGCAATAGTGCAATCTCGGCTCACCGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCCGCCTCAGTAATCCCGAGTAGCTGGGATTACAGGCATAAGCCACCACACCTGGCTAATTTTTTTTTGTATTTTTAGTAGACACGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCCACCGTGCCCGGCCTGAATTTTTTTATTTTAATTTTTAGATACAGGGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGATGCGATCACAGCTCACTGCAGCCTCAATCTCCTGGGCTCAAGCGATCCTCCCACAGGTTAGACCACTGGTGTGTGCGACCATGCCCAGGGATTTTATTTTTTTTGTGGAGACAGGGGTCTCAATATTGCCCAGGCTGGTTTTGAACTCCAGGGCTCAAGTGATCCTCCTTCCTTGGCCTCCAAAAGTGTTGGGATGACAGGCATGAGACACTGTACCCAGCCAATAAAATGTTCCATTCTGTTCCTTGGCCACAGCAGCTCTACTTCAAGTGCTCAATACTCACAGGTGGCCGGGCACAGTGGCTCACGACTATAATCCCAGCATTTTGGGAGGCTGAGGTGGGCGGATCACCCGAGGTCAGGAGTTTGAGACTAGCCCGGCCAACATGGTAAAACCTCGTCTCTACTAAAAATACAAAAATTAGCCGTGTGTGGTGGCACGTGCCTGCAATCCCAGTTACTTGGGAGGCTGAGGCATGAGAATCACTTGAACCTGGGAGGTGGAAATTGCAGTGAGCTGAGATCGTTCCATTGCACTCCAGCCTGGGTTGACAGAGCCAGACTCTGTCTCAAAAAAAGAAAGAAAAAAAAAAACCTCGCAGGGGTAGTGGGGCAGGATAGAAGTGCTGACCTCAAGAACCCAGGTGGGCCTGTGGACAGGACTTTCCACCCCTGCCAGCGCCCACAGCAGACATCACCAGTTGCTCACAGCACTTCCCCCTAGGCCCTGCAGCAGCCTGGGGAAGAGGCTGATGACACCAGGCACACAGGTAAGGAGCTGACACGCTTCAGGCCTTTGGTTAGCTTCGCTGACTGTCCCTACAGCGGGAGGGCAGGTGGCACCGCCAAGAGCCTGCCCACCTCGGAAGCTGACTCCTTGTGCCACCAGGCAGGCAGGACGGCCTAGGTTGGGGGATCAGGGTGGCCAACAGGCTGTTTCCTGTCCTGCAACCACTGGTACCAACCTCCCAGGCTTGGTGGGAAGAAGCCAGGGCTGGAAGGTGTCTTGGTAACCGCTGGAGGCTTTGGCACAGGGGACACGGGCTGGGGCTGGACCTGGGTTCCAACCCTGTCTCCTTCCTGAGCAGCTACAGGCTCCAGCGAATTTCCTGTGCCTCTCCCATCCCAGAGTCTTCCGAAGACCTCTGGGAGGAAAAGCACCCTCTATGTTCCATTAGAATTGAGTTCCAGACAGGCCAGACCCTTCCTAAGGGGCTCAGGGTGGGAGATGACTCTTCGGAGAGGCCGCAGGAACGGCTCAAGGGAGCCCGTGGGGGAGGCAGCTGTGGCCGCCCTGCGTGACGCACGGACTCACTTTCACCTCCTCCGTGACCTGGAAGTCCTCGTGGACAACGTTCTCTACCTCCACCATGAGCACCTCAGCCGGGAGCTCAGGGGTGGGCTCCATCGCCAGCTCCGCCGGGTGCCTGGCGCTCAGCTCGTCCTCCGCCTCCTTCTTGCCCCGCTTTGACTTCCTGCGGGGCTTGTGCTTGTTCTCCGCCTCCGGCTCCTCGGGCTCCACCTCCAGCTGTCTGCTGATATGGACTCTGACACGGGAGCAAGGCAGGTGTGAATCAGCCGCTGAGGCTGGGAGCTGGACCCGGCTGAGGCCTCCCTGGTGGCACAGGTGGTCCAAGGGTCCCGCTGAGCCCAGACCTCTGGAGCCACAGGGTGGCTACAGGGTCCTCAAGCTGGAGACGTGAGCCGCTTTCTCGGGGCCTCCCAACCAGTGTCCCCTCCACCCCTTAGACTCCAGCCAGATTCAGGCATTCCCTGCATCCCACGCCAATGCATCACTGTCCCCATCCTAAGTATCGTGGATAAGCTGCAGTGACAAGCCCCAGGGCCTCCTGTCGAAAACGGTGTCAGCCTGGCCGGGCACAGGCTGGTCTCCAAGACTCTGTGCCCTGGACTCAGCTCATAGCAGCTCCTTCCTGTTGTTCAGGTCTCGATTTCAAGGACACCATCGCAAAGACTGTCCCCAAGCACTTCACAAAAGCTACCCACCTCCACCTCTCACGCTGTCTGCGTCTCCCCTCAGAGCACCTGGCACCACCTGAACTCAGGGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGTGATCATAGCTCACTGCAGCCTTTACCTCCTGGGCTCAAGCAATCCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGAACACGCCGTCACATCTAACTTTTTATTATTTTTTATAGAAACAGGGTCTTGCTGTGTTGCCCAGGCTGGTCTCAAACTCCTGGGCTTAAGCGATCCTCCCACCTCAGCCTCTTGCGTAGCTGTGACCACAGGCATGAGCCACCACATCCAGCTAATTTTTCTACATTTTTTGCAGAGATGGGATCTCGCTACGTTGCCCAGGCTGGACTCAAACTCCGGGCTCAAGCGATCCAATTGCCTTGACATCCCAAAGTGCTGGAATTCCAGGCAGGAGTCACCATGCCTGGCCCTGCAGCTCACCCCTTTCTGAGACAGGAGGGGTCCAGAGGTGACATGTCTCACTCTCACCCCCAGCTCTGGCCTCAGTGCTAGTGAGAAAGCCGCTGGGCTGACGGACAGGGCAGAGGCTGATGCTGGGGCATAAGGCATCCTGGCTGGTCTCCCGCGTGGTACTCTGCCCCCACCTCCCACTGTCCCCCGCCAGCCACCCACCTTCTGTGTCCCATGACGATCATGCGCAGCTTGTCCCCAAGGTCCTGCATCTCATGGATCTGGGCAAACGTCCCCGTGTGGTAGATTTCATCCAGGCTCTCGACCACATCCGACTCATTGCTGTGGGAGAAGAGCACAGAGGAATGTTGGAACATGGCTTTCATGCTAGGCAGGATGTCTCTGGCTGAGATGGAGGAGGGAGAGAAAAGAAACGCCCCTACCAAATGCTACTGAAAACCAAGAGCGGCCTCCTTGGCTCCCGCAGGAGCTCCAGAGCCTAGGGGAGCTTCTGCCAGGCCAGGGCTGCCCCAGTGGTCACAGGACCGGGTGGGTGGCTCCTCGCTAAGTCAGCCACAAAGACATGGTCCAGGTGGGACTTTGATGAGTCTCTTCTATGCTATCACAGAGCCTGCTTCGAATGCATGCATGGAACTCTTTTTTTCTTGAGATGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGAGCAATGGTGTAATCTCAGCTCACTGCAACCTCCACTTACTAGGTTCAACCGATTCTCCTTCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTACCTGCCACCACGCCTGGCTAATGTTTTGTATTTTTAGTAAAGACGAGGTTTCATCATGTCAGCCAGACTGCTTTGGAACTCCTGACCTCAGGTGATCCACATGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGCGACCCCACGCCCGGCCCATGGAACTCATTTCTACATGGAGCCACATCTCCGAGCAGCTAGCTCGACTTTCAGGTAGCCTCATGGAGCATTTCATCACTAAGAGTCCCTG | CGAGATCACGCCACTGCACTCCAGCCTGGGCGACAGAGGCTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAGAACAAGTTCGCTGCCCCTAAGGGGTCTTGCCAGTTCTAATCACATTTGTAAGTTTGGTCGCTGTCTTCCCCCTGTTGCAAGATTCTCACAGGGAATGCCCCAATGCTGAGCTGCCCAGGACAGTGTAGCCGCTGGTGGCTGTCTGAATTTTTTTTTTTTTTTTTTGAGACAGAGTTTTGCTCTTGTTGCCCAGGCTGGAATGCAATAGTGCAATCTCGGCTCACCGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCCGCCTCAGTAATCCCGAGTAGCTGGGATTACAGGCATAAGCCACCACACCTGGCTAATTTTTTTTTGTATTTTTAGTAGACACGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCCACCGTGCCCGGCCTGAATTTTTTTATTTTAATTTTTAGATACAGGGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGATGCGATCACAGCTCACTGCAGCCTCAATCTCCTGGGCTCAAGCGATCCTCCCACAGGTTAGACCACTGGTGTGTGCGACCATGCCCAGGGATTTTATTTTTTTTGTGGAGACAGGGGTCTCAATATTGCCCAGGCTGGTTTTGAACTCCAGGGCTCAAGTGATCCTCCTTCCTTGGCCTCCAAAAGTGTTGGGATGACAGGCATGAGACACTGTACCCAGCCAATAAAATGTTCCATTCTGTTCCTTGGCCACAGCAGCTCTACTTCAAGTGCTCAATACTCACAGGTGGCCGGGCACAGTGGCTCACGACTATAATCCCAGCATTTTGGGAGGCTGAGGTGGGCGGATCACCCGAGGTCAGGAGTTTGAGACTAGCCCGGCCAACATGGTAAAACCTCGTCTCTACTAAAAATACAAAAATTAGCCGTGTGTGGTGGCACGTGCCTGCAATCCCAGTTACTTGGGAGGCTGAGGCATGAGAATCACTTGAACCTGGGAGGTGGAAATTGCAGTGAGCTGAGATCGTTCCATTGCACTCCAGCCTGGGTTGACAGAGCCAGACTCTGTCTCAAAAAAAGAAAGAAAAAAAAAAACCTCGCAGGGGTAGTGGGGCAGGATAGAAGTGCTGACCTCAAGAACCCAGGTGGGCCTGTGGACAGGACTTTCCACCCCTGCCAGCGCCCACAGCAGACATCACCAGTTGCTCACAGCACTTCCCCCTAGGCCCTGCAGCAGCCTGGGGAAGAGGCTGATGACACCAGGCACACAGGTAAGGAGCTGACACGCTTCAGGCCTTTGGTTAGCTTCGCTGACTGTCCCTACAGCGGGAGGGCAGGTGGCACCGCCAAGAGCCTGCCCACCTCGGAAGCTGACTCCTTGTGCCACCAGGCAGGCAGGACGGCCTAGGTTGGGGGATCAGGGTGGCCAACAGGCTGTTTCCTGTCCTGCAACCACTGGTACCAACCTCCCAGGCTTGGTGGGAAGAAGCCAGGGCTGGAAGGTGTCTTGGTAACCGCTGGAGGCTTTGGCACAGGGGACACGGGCTGGGGCTGGACCTGGGTTCCAACCCTGTCTCCTTCCTGAGCAGCTACAGGCTCCAGCGAATTTCCTGTGCCTCTCCCATCCCAGAGTCTTCCGAAGACCTCTGGGAGGAAAAGCACCCTCTATGTTCCATTAGAATTGAGTTCCAGACAGGCCAGACCCTTCCTAAGGGGCTCAGGGTGGGAGATGACTCTTCGGAGAGGCCGCAGGAACGGCTCAAGGGAGCCCGTGGGGGAGGCAGCTGTGGCCGCCCTGCGTGACGCACGGACTCACTTTCACCTCCTCCGTGACCTGGAAGTCCTCGTGGACAACGTTCTCTACCTCCACCATGAGCACCTCAGCCGGGAGCTCAGGGGTGGGCTCCATCGCCAGCTCCGCCGGGTGCCTGGCGCTCAGCTCGTCCTCCGCCTCCTTGCCCCGCTTTGACTTCCTGCGGGGCTTGTGCTTGTTCTCCGCCTCCGGCTCCTCGGGCTCCACCTCCAGCTGTCTGCTGATATGGACTCTGACACGGGAGCAAGGCAGGTGTGAATCAGCCGCTGAGGCTGGGAGCTGGACCCGGCTGAGGCCTCCCTGGTGGCACAGGTGGTCCAAGGGTCCCGCTGAGCCCAGACCTCTGGAGCCACAGGGTGGCTACAGGGTCCTCAAGCTGGAGACGTGAGCCGCTTTCTCGGGGCCTCCCAACCAGTGTCCCCTCCACCCCTTAGACTCCAGCCAGATTCAGGCATTCCCTGCATCCCACGCCAATGCATCACTGTCCCCATCCTAAGTATCGTGGATAAGCTGCAGTGACAAGCCCCAGGGCCTCCTGTCGAAAACGGTGTCAGCCTGGCCGGGCACAGGCTGGTCTCCAAGACTCTGTGCCCTGGACTCAGCTCATAGCAGCTCCTTCCTGTTGTTCAGGTCTCGATTTCAAGGACACCATCGCAAAGACTGTCCCCAAGCACTTCACAAAAGCTACCCACCTCCACCTCTCACGCTGTCTGCGTCTCCCCTCAGAGCACCTGGCACCACCTGAACTCAGGGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGTGATCATAGCTCACTGCAGCCTTTACCTCCTGGGCTCAAGCAATCCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGAACACGCCGTCACATCTAACTTTTTATTATTTTTTATAGAAACAGGGTCTTGCTGTGTTGCCCAGGCTGGTCTCAAACTCCTGGGCTTAAGCGATCCTCCCACCTCAGCCTCTTGCGTAGCTGTGACCACAGGCATGAGCCACCACATCCAGCTAATTTTTCTACATTTTTTGCAGAGATGGGATCTCGCTACGTTGCCCAGGCTGGACTCAAACTCCGGGCTCAAGCGATCCAATTGCCTTGACATCCCAAAGTGCTGGAATTCCAGGCAGGAGTCACCATGCCTGGCCCTGCAGCTCACCCCTTTCTGAGACAGGAGGGGTCCAGAGGTGACATGTCTCACTCTCACCCCCAGCTCTGGCCTCAGTGCTAGTGAGAAAGCCGCTGGGCTGACGGACAGGGCAGAGGCTGATGCTGGGGCATAAGGCATCCTGGCTGGTCTCCCGCGTGGTACTCTGCCCCCACCTCCCACTGTCCCCCGCCAGCCACCCACCTTCTGTGTCCCATGACGATCATGCGCAGCTTGTCCCCAAGGTCCTGCATCTCATGGATCTGGGCAAACGTCCCCGTGTGGTAGATTTCATCCAGGCTCTCGACCACATCCGACTCATTGCTGTGGGAGAAGAGCACAGAGGAATGTTGGAACATGGCTTTCATGCTAGGCAGGATGTCTCTGGCTGAGATGGAGGAGGGAGAGAAAAGAAACGCCCCTACCAAATGCTACTGAAAACCAAGAGCGGCCTCCTTGGCTCCCGCAGGAGCTCCAGAGCCTAGGGGAGCTTCTGCCAGGCCAGGGCTGCCCCAGTGGTCACAGGACCGGGTGGGTGGCTCCTCGCTAAGTCAGCCACAAAGACATGGTCCAGGTGGGACTTTGATGAGTCTCTTCTATGCTATCACAGAGCCTGCTTCGAATGCATGCATGGAACTCTTTTTTTCTTGAGATGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGAGCAATGGTGTAATCTCAGCTCACTGCAACCTCCACTTACTAGGTTCAACCGATTCTCCTTCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTACCTGCCACCACGCCTGGCTAATGTTTTGTATTTTTAGTAAAGACGAGGTTTCATCATGTCAGCCAGACTGCTTTGGAACTCCTGACCTCAGGTGATCCACATGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGCGACCCCACGCCCGGCCCATGGAACTCATTTCTACATGGAGCCACATCTCCGAGCAGCTAGCTCGACTTTCAGGTAGCCTCATGGAGCATTTCATCACTAAGAGTCCCTGNNN | benign | 294,494 |
The mutation impacting LONP1 (lon peptidase 1, mitochondrial) on chromosome 19 at position 5713104: benign or pathogenic? Name the associated disease(s) if pathogenic. | benign | AGGGGTAGTGGGGCAGGATAGAAGTGCTGACCTCAAGAACCCAGGTGGGCCTGTGGACAGGACTTTCCACCCCTGCCAGCGCCCACAGCAGACATCACCAGTTGCTCACAGCACTTCCCCCTAGGCCCTGCAGCAGCCTGGGGAAGAGGCTGATGACACCAGGCACACAGGTAAGGAGCTGACACGCTTCAGGCCTTTGGTTAGCTTCGCTGACTGTCCCTACAGCGGGAGGGCAGGTGGCACCGCCAAGAGCCTGCCCACCTCGGAAGCTGACTCCTTGTGCCACCAGGCAGGCAGGACGGCCTAGGTTGGGGGATCAGGGTGGCCAACAGGCTGTTTCCTGTCCTGCAACCACTGGTACCAACCTCCCAGGCTTGGTGGGAAGAAGCCAGGGCTGGAAGGTGTCTTGGTAACCGCTGGAGGCTTTGGCACAGGGGACACGGGCTGGGGCTGGACCTGGGTTCCAACCCTGTCTCCTTCCTGAGCAGCTACAGGCTCCAGCGAATTTCCTGTGCCTCTCCCATCCCAGAGTCTTCCGAAGACCTCTGGGAGGAAAAGCACCCTCTATGTTCCATTAGAATTGAGTTCCAGACAGGCCAGACCCTTCCTAAGGGGCTCAGGGTGGGAGATGACTCTTCGGAGAGGCCGCAGGAACGGCTCAAGGGAGCCCGTGGGGGAGGCAGCTGTGGCCGCCCTGCGTGACGCACGGACTCACTTTCACCTCCTCCGTGACCTGGAAGTCCTCGTGGACAACGTTCTCTACCTCCACCATGAGCACCTCAGCCGGGAGCTCAGGGGTGGGCTCCATCGCCAGCTCCGCCGGGTGCCTGGCGCTCAGCTCGTCCTCCGCCTCCTTCTTGCCCCGCTTTGACTTCCTGCGGGGCTTGTGCTTGTTCTCCGCCTCCGGCTCCTCGGGCTCCACCTCCAGCTGTCTGCTGATATGGACTCTGACACGGGAGCAAGGCAGGTGTGAATCAGCCGCTGAGGCTGGGAGCTGGACCCGGCTGAGGCCTCCCTGGTGGCACAGGTGGTCCAAGGGTCCCGCTGAGCCCAGACCTCTGGAGCCACAGGGTGGCTACAGGGTCCTCAAGCTGGAGACGTGAGCCGCTTTCTCGGGGCCTCCCAACCAGTGTCCCCTCCACCCCTTAGACTCCAGCCAGATTCAGGCATTCCCTGCATCCCACGCCAATGCATCACTGTCCCCATCCTAAGTATCGTGGATAAGCTGCAGTGACAAGCCCCAGGGCCTCCTGTCGAAAACGGTGTCAGCCTGGCCGGGCACAGGCTGGTCTCCAAGACTCTGTGCCCTGGACTCAGCTCATAGCAGCTCCTTCCTGTTGTTCAGGTCTCGATTTCAAGGACACCATCGCAAAGACTGTCCCCAAGCACTTCACAAAAGCTACCCACCTCCACCTCTCACGCTGTCTGCGTCTCCCCTCAGAGCACCTGGCACCACCTGAACTCAGGGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGTGATCATAGCTCACTGCAGCCTTTACCTCCTGGGCTCAAGCAATCCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGAACACGCCGTCACATCTAACTTTTTATTATTTTTTATAGAAACAGGGTCTTGCTGTGTTGCCCAGGCTGGTCTCAAACTCCTGGGCTTAAGCGATCCTCCCACCTCAGCCTCTTGCGTAGCTGTGACCACAGGCATGAGCCACCACATCCAGCTAATTTTTCTACATTTTTTGCAGAGATGGGATCTCGCTACGTTGCCCAGGCTGGACTCAAACTCCGGGCTCAAGCGATCCAATTGCCTTGACATCCCAAAGTGCTGGAATTCCAGGCAGGAGTCACCATGCCTGGCCCTGCAGCTCACCCCTTTCTGAGACAGGAGGGGTCCAGAGGTGACATGTCTCACTCTCACCCCCAGCTCTGGCCTCAGTGCTAGTGAGAAAGCCGCTGGGCTGACGGACAGGGCAGAGGCTGATGCTGGGGCATAAGGCATCCTGGCTGGTCTCCCGCGTGGTACTCTGCCCCCACCTCCCACTGTCCCCCGCCAGCCACCCACCTTCTGTGTCCCATGACGATCATGCGCAGCTTGTCCCCAAGGTCCTGCATCTCATGGATCTGGGCAAACGTCCCCGTGTGGTAGATTTCATCCAGGCTCTCGACCACATCCGACTCATTGCTGTGGGAGAAGAGCACAGAGGAATGTTGGAACATGGCTTTCATGCTAGGCAGGATGTCTCTGGCTGAGATGGAGGAGGGAGAGAAAAGAAACGCCCCTACCAAATGCTACTGAAAACCAAGAGCGGCCTCCTTGGCTCCCGCAGGAGCTCCAGAGCCTAGGGGAGCTTCTGCCAGGCCAGGGCTGCCCCAGTGGTCACAGGACCGGGTGGGTGGCTCCTCGCTAAGTCAGCCACAAAGACATGGTCCAGGTGGGACTTTGATGAGTCTCTTCTATGCTATCACAGAGCCTGCTTCGAATGCATGCATGGAACTCTTTTTTTCTTGAGATGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGAGCAATGGTGTAATCTCAGCTCACTGCAACCTCCACTTACTAGGTTCAACCGATTCTCCTTCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTACCTGCCACCACGCCTGGCTAATGTTTTGTATTTTTAGTAAAGACGAGGTTTCATCATGTCAGCCAGACTGCTTTGGAACTCCTGACCTCAGGTGATCCACATGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGCGACCCCACGCCCGGCCCATGGAACTCATTTCTACATGGAGCCACATCTCCGAGCAGCTAGCTCGACTTTCAGGTAGCCTCATGGAGCATTTCATCACTAAGAGTCCCTGAAGTTAATTTCCCCCGTATCTTAACAATGCATGAAGTTTAGTACTACAAGCTGAGTTCTCAGCCCAGGCTGAAAAGGTAGCCTGCGTGGCTTCTGGCCTTTATTCTGGAGGTCTTCCCTGGTTTCCTCGGGGTCAGGGGTCAAAGGTGCAAAGTACAGAGTAGGACTTGTGGTGAGCTGGACTCTAGGGCACCGTCAACAAGGGAATGAAGGAAAAATCACACTTACCTGTCATCTCTCTTTAGAAAGACGCCGACATAAGGCTGGGCGAGACGAACTTTCCTTCTCAGCAGCTCAACCAACTTCTTATTTTTAACCTAGCATGACAATGACCCCAAAGTGAAATGCAGAGTAGATTTTTTTTTTGAGACAGAGTCTCATTCTGTTGCCCTGGCTGGAATGTAATGGCGTGATCTCAGCTCACTGCAACCTCCACCCCCACTGAGTTCAAGGGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGCACCACCACACCTGGCTAATTTTTTTATTTTTAGTAGAGATGGGGTTTCACCATATTGGCCAGGTTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCACCTCAGCCTCCCAAAATGCCGGGATTATAGGCGTGAGCCACCAAACGCAGCACAGGGTAGCTTTTCTTTTTTTTTTTTTTTTCTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCATGATCTCAGCTCACTGCAACCTCCGCCTCCCGGGATCAAGCAATTCTCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCGCCACCAGGTCCGGCTGATTGTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATCTTGGCCAGGATGGTCTTTAACTCCTGACCTCGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTATAGGCGTAAACTACCACGCCCGGCCTCCCAGGGTAGCTTTTGTAGCTGACATTTTTTGACAGCAGAGCCGCTCTAACGCTGTGTAGATTATTCTCTGGGGACATGCTGATCCGCATCCTGGATACTAATCAACATGGTTTGGGAACGCCTAAACAAAAAAAAAAAAAAAAAAAAAAAAGTGCTGGAGGCCAGGAGGCTGTGGTGGTGAATACAGTGAGCAGAACTGACCAGCTGGATTCTTCTTAGCGGTTTCCCCACT | AGGGGTAGTGGGGCAGGATAGAAGTGCTGACCTCAAGAACCCAGGTGGGCCTGTGGACAGGACTTTCCACCCCTGCCAGCGCCCACAGCAGACATCACCAGTTGCTCACAGCACTTCCCCCTAGGCCCTGCAGCAGCCTGGGGAAGAGGCTGATGACACCAGGCACACAGGTAAGGAGCTGACACGCTTCAGGCCTTTGGTTAGCTTCGCTGACTGTCCCTACAGCGGGAGGGCAGGTGGCACCGCCAAGAGCCTGCCCACCTCGGAAGCTGACTCCTTGTGCCACCAGGCAGGCAGGACGGCCTAGGTTGGGGGATCAGGGTGGCCAACAGGCTGTTTCCTGTCCTGCAACCACTGGTACCAACCTCCCAGGCTTGGTGGGAAGAAGCCAGGGCTGGAAGGTGTCTTGGTAACCGCTGGAGGCTTTGGCACAGGGGACACGGGCTGGGGCTGGACCTGGGTTCCAACCCTGTCTCCTTCCTGAGCAGCTACAGGCTCCAGCGAATTTCCTGTGCCTCTCCCATCCCAGAGTCTTCCGAAGACCTCTGGGAGGAAAAGCACCCTCTATGTTCCATTAGAATTGAGTTCCAGACAGGCCAGACCCTTCCTAAGGGGCTCAGGGTGGGAGATGACTCTTCGGAGAGGCCGCAGGAACGGCTCAAGGGAGCCCGTGGGGGAGGCAGCTGTGGCCGCCCTGCGTGACGCACGGACTCACTTTCACCTCCTCCGTGACCTGGAAGTCCTCGTGGACAACGTTCTCTACCTCCACCATGAGCACCTCAGCCGGGAGCTCAGGGGTGGGCTCCATCGCCAGCTCCGCCGGGTGCCTGGCGCTCAGCTCGTCCTCCGCCTCCTTCTTGCCCCGCTTTGACTTCCTGCGGGGCTTGTGCTTGTTCTCCGCCTCCGGCTCCTCGGGCTCCACCTCCAGCTGTCTGCTGATATGGACTCTGACACGGGAGCAAGGCAGGTGTGAATCAGCCGCTGAGGCTGGGAGCTGGACCCGGCTGAGGCCTCCCTGGTGGCACAGGTGGTCCAAGGGTCCCGCTGAGCCCAGACCTCTGGAGCCACAGGGTGGCTACAGGGTCCTCAAGCTGGAGACGTGAGCCGCTTTCTCGGGGCCTCCCAACCAGTGTCCCCTCCACCCCTTAGACTCCAGCCAGATTCAGGCATTCCCTGCATCCCACGCCAATGCATCACTGTCCCCATCCTAAGTATCGTGGATAAGCTGCAGTGACAAGCCCCAGGGCCTCCTGTCGAAAACGGTGTCAGCCTGGCCGGGCACAGGCTGGTCTCCAAGACTCTGTGCCCTGGACTCAGCTCATAGCAGCTCCTTCCTGTTGTTCAGGTCTCGATTTCAAGGACACCATCGCAAAGACTGTCCCCAAGCACTTCACAAAAGCTACCCACCTCCACCTCTCACGCTGTCTGCGTCTCCCCTCAGAGCACCTGGCACCACCTGAACTCAGGGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGTGATCATAGCTCACTGCAGCCTTTACCTCCTGGGCTCAAGCAATCCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGAACACGCCGTCACATCTAACTTTTTATTATTTTTTATAGAAACAGGGTCTTGCTGTGTTGCCCAGGCTGGTCTCAAACTCCTGGGCTTAAGCGATCCTCCCACCTCAGCCTCTTGCGTAGCTGTGACCACAGGCATGAGCCACCACATCCAGCTAATTTTTCTACATTTTTTGCAGAGATGGGATCTCGCTACGTTGCCCAGGCTGGACTCAAACTCCGGGCTCAAGCGATCCAATTGCCTTGACATCCCAAAGTGCTGGAATTCCAGGCAGGAGTCACCATGCCTGGCCCTGCAGCTCACCCCTTTCTGAGACAGGAGGGGTCCAGAGGTGACATGTCTCACTCTCACCCCCAGCTCTGGCCTCAGTGCTAGTGAGAAAGCCGCTGGGCTGACGGACAGGGCAGAGGCTGATGCTGGGGCATAAGGCATCCTGGCTGGTCTCCCGCGTGGTACTCTGCCCCCACCAGCCACCCACCTTCTGTGTCCCATGACGATCATGCGCAGCTTGTCCCCAAGGTCCTGCATCTCATGGATCTGGGCAAACGTCCCCGTGTGGTAGATTTCATCCAGGCTCTCGACCACATCCGACTCATTGCTGTGGGAGAAGAGCACAGAGGAATGTTGGAACATGGCTTTCATGCTAGGCAGGATGTCTCTGGCTGAGATGGAGGAGGGAGAGAAAAGAAACGCCCCTACCAAATGCTACTGAAAACCAAGAGCGGCCTCCTTGGCTCCCGCAGGAGCTCCAGAGCCTAGGGGAGCTTCTGCCAGGCCAGGGCTGCCCCAGTGGTCACAGGACCGGGTGGGTGGCTCCTCGCTAAGTCAGCCACAAAGACATGGTCCAGGTGGGACTTTGATGAGTCTCTTCTATGCTATCACAGAGCCTGCTTCGAATGCATGCATGGAACTCTTTTTTTCTTGAGATGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGAGCAATGGTGTAATCTCAGCTCACTGCAACCTCCACTTACTAGGTTCAACCGATTCTCCTTCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTACCTGCCACCACGCCTGGCTAATGTTTTGTATTTTTAGTAAAGACGAGGTTTCATCATGTCAGCCAGACTGCTTTGGAACTCCTGACCTCAGGTGATCCACATGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGCGACCCCACGCCCGGCCCATGGAACTCATTTCTACATGGAGCCACATCTCCGAGCAGCTAGCTCGACTTTCAGGTAGCCTCATGGAGCATTTCATCACTAAGAGTCCCTGAAGTTAATTTCCCCCGTATCTTAACAATGCATGAAGTTTAGTACTACAAGCTGAGTTCTCAGCCCAGGCTGAAAAGGTAGCCTGCGTGGCTTCTGGCCTTTATTCTGGAGGTCTTCCCTGGTTTCCTCGGGGTCAGGGGTCAAAGGTGCAAAGTACAGAGTAGGACTTGTGGTGAGCTGGACTCTAGGGCACCGTCAACAAGGGAATGAAGGAAAAATCACACTTACCTGTCATCTCTCTTTAGAAAGACGCCGACATAAGGCTGGGCGAGACGAACTTTCCTTCTCAGCAGCTCAACCAACTTCTTATTTTTAACCTAGCATGACAATGACCCCAAAGTGAAATGCAGAGTAGATTTTTTTTTTGAGACAGAGTCTCATTCTGTTGCCCTGGCTGGAATGTAATGGCGTGATCTCAGCTCACTGCAACCTCCACCCCCACTGAGTTCAAGGGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGCACCACCACACCTGGCTAATTTTTTTATTTTTAGTAGAGATGGGGTTTCACCATATTGGCCAGGTTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCACCTCAGCCTCCCAAAATGCCGGGATTATAGGCGTGAGCCACCAAACGCAGCACAGGGTAGCTTTTCTTTTTTTTTTTTTTTTCTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCATGATCTCAGCTCACTGCAACCTCCGCCTCCCGGGATCAAGCAATTCTCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCGCCACCAGGTCCGGCTGATTGTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATCTTGGCCAGGATGGTCTTTAACTCCTGACCTCGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTATAGGCGTAAACTACCACGCCCGGCCTCCCAGGGTAGCTTTTGTAGCTGACATTTTTTGACAGCAGAGCCGCTCTAACGCTGTGTAGATTATTCTCTGGGGACATGCTGATCCGCATCCTGGATACTAATCAACATGGTTTGGGAACGCCTAAACAAAAAAAAAAAAAAAAAAAAAAAAGTGCTGGAGGCCAGGAGGCTGTGGTGGTGAATACAGTGAGCAGAACTGACCAGCTGGATTCTTCTTAGCGGTTTCCCCACTNNNNNNNNNNNNNNNNN | benign | 294,497 |
Gene CLPP (caseinolytic mitochondrial matrix peptidase proteolytic subunit) variant at chromosome 19, position 6361567—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | benign | TGTTGGTCAGGCTGGTCTCAAACCCCTGTCCTTAGGTGATCCACATGTCTTGGGCTCCCAAAGTGCTGGGATTGCAGGCATGAGCCACCACAACACCTCGCCTGAATCTGCTGTGATTCGAAGGACTGCCCCGGGAAAAAAAAGAAAAAAACACTTCAAGTAGACTCCCATGTGGGAGGACCTGAAGACTTCTCAGACTTCCATGGTCCCTGATCTAACACAGCAATAAATCATTCAAACTGAGCACTTTTTACACATTTTTGGACCCTTTCTGAGGACTTTCTGCACAAACCTAGGAGGTAGGTTATCATTATCCCCACTCTGCAGATGCCTCCAAAGCCCTCTACCTACCTCCTTTATCACCTCTTCATCTCTTGGTTCAATGTGTATTTAATGAGCACCTACTGTGTGTCAGGCACTATTCTAGACTTTGGGGATGAAGCAGTGGGCACCTCTTAGATAGTGACATTGAACTGAATGATGAAAAAGAATCTGGCTTGAGAAGGTGTGGCAAAAAAGAGAAGTCCCAACATTACCAGCAATCTTCCTACTTCCACCATTTTGCCCATTCTTTTTCCTCTGCTGGAAATGCCTTTCCCCAGCTAACAAACTCCTACTTATCCTGCAAAGCCCAATTCCAATACCTGCTTCTCCTAGGAATGCTTTCCGGTCTGATCTCCAGGAAGAATCCACAACACCCTTCTCTGGGCTCCCACAATCTACTCCACAGGTGGCCAAAAAATGAATGAGGAGGTCTCAGTAGAAGTCGGCCACACCAGGCTGGAAGCTCTTCAAGGCCAAGACCCAGGCTAAGTCCTCTCTGGGACCCCTCTTCCAAGATGAGCTGTGGGAACACTGCAGCTTTTTTTTTTTTTTTTGAGACGGTGTCTGGCTCTGTCGCCCAGGCTGGAGTGCAGAGGCGCCATCTCAGCTCACTGCAAGCTCCACCTCCCAGGTTCACACCATTTTCCTGCCTCAGTCTCCTGAGTAGCTGGGACTACAGGTGCCCGTCACCTCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGCGGTTTCACCGTGTTAGCCAGGATGGTTTCGATCTCCTGACCTCGTGATCCGCCCACCTCAGCCTCCCAAAGTGCTAAGATTACAGGCGTGAGCCACTGTGCCCGGCCCTGCAGCTATTTTTAAAATAAGGAATAAGTGGGGTGTGGTGGCTCATGCCTGTAGTCCCAGCACTTTGGGAGGCAAAGGTGGGAGGATCACTTGAGGCCAGGAGTTTGAGACCAGCCTGGGCGACATAGTAAGACCCCATCTCTAATACATATATATATATATTTGCCAGATGTGGTAGCACACAACTGTAGTCCCAGCTACTCTGGAGAGCAAGGTGGGAGGGAGGGTTGCTTGGGCCCAGAAATTTGAGGCCACATTGAGCTAGGATGGCGCCACTGCACTCCAGCCTGGGCCACAGAGTGAGATTCTGTCTCAAAAAAATAAAAATAAATAAAGCAGAAACAGTAGAAAACGAAGACGAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGTACTTTGGGAGGCCGAGGTGGGAAGATCACGAGGTCAGGAGTTCAAGACCAGCCTGGCCAAGGTGAAACCCATCTCTACTAAAAATAACAAAATTAACCGGGTGCAGTGGTGTGCATCTGTAATCCCAGCTACTGGGGCAGCTGAGCCAGGAGAATGGCTTGAACCCAGAAGGCAGAGGTTGCAGTGACCCAACATCGTGCCACCGCACTCCAGCCTGGGTGACAGAGCAAGACTCCGTCTCAAAAAAAAAAAAAAAAGAAGACGAATTGGTCGGTAAGGGGACTCGAACTGGAGACTCTAAAACTTCTCCAGCCCTGCCCACTCAATTTACTTCATTGGCTCCTCCCTTTCAGGCTCCGTCCCTATCCCCGCCTCACCCTTAATGGCGCCCGCCCAGACTCCTGGAAGTGAGCGGCCTAGCGAGCGAGCTCCCAGGCGCAAAGCACGCCGGAAGCTGTAGTTCCGCCATCGGACGGAAGCCGACCGGGGCGTGCGGAGGGATGTGGCCCGGAATATTGGTAGGGGGGGCCCGGGTGGCGTCATGCAGGTACCCCGCGCTGGGGCCTCGCCTCGCCGCTCACTTTCCAGCGCAGCGGCCGCCGCAGCGGACACTCCAGAACGGCCTGGCCCTGCAGCGGTGCCTGCACGCGACGGCGACCCGGGCTCTCCCGCTCATTCCCATCGTGGTGGAGCAGACGGTACGGCGGCCGGGCGGGGACACGGTTCGGGGGCTCCGGGCTGGGTGGGGATCGGCTGGCTGCCCCGGCCCCTCACCTCCATCTTTCTACCCCCAGGGTCGCGGCGAGCGCGCCTATGACATCTACTCGCGGCTGCTGCGGGAGCGCATCGTGTGCGTCATGGGCCCGGTGAGCGCCCCGCGCCGGGACCCTCCCCAGGACTCTCCCAAGCGCCTGCCGACACTCCCTGCGCCCCTCCTTCCCTGGCCCCAGACTTTCCCTCAGGCTCCGCTCCCCTTCTAACCCCCTTCCCTCCCCTTCTGACTCCCCTCCTGGCTCCCGGTCCCCCAACCCGCTCCTCACCCCTTCTCTGCTCCTCGGCTCTTAATCTCCGACTTCCTTCCTGACACCTGGCACCGCTCCCCTCATTCCTACGCTCAAGACTCTCCCCAGCCATTCTCACCCCTTCCTTTCCTGTGTCCCTAGCCCCCTGACTCCCCCCTTCCTGTGCTCCAAACCCCCTGGGTCCTCTCCACTACTCTCTCCCCATCCCCTTCTGGGGCCTAAATTCTTCCCCATCCCTTTTACTTTGGGCTCTGGTCCCCCTTCCTGGTTCCCTGACCCATCCCCAGCCTCCCTTAAAACTCTCTCCCCACCCCGAATCTGGGGACACCCCTGCCCTCTCCACCTGCAGATCGATGACAGCGTTGCCAGCCTTGTTATCGCACAGCTCCTCTTCCTGCAATCCGAGAGCAACAAGAAGCCCATCCACATGTACATCAACAGCCCTGGTGAGCAGGGTCTTTCCTGGGTGCCAGGGGCACTCGTCAGGGCACACGGGTGACTCAGGGGACCAGAATCCCGGGTCAGGGATGTTCTCTCTCTGGGAAAGGGTGCAGAGCGTCAGAGTTCCAGAAGTGGCTTTAAACCACCAAAAGGTGCCTGTTGCTGGCTTTTGAGCCTCGGTTCACAAGTCAGGATGTGGCCTCTTTGATCCTGCACATACTGTTCTGCCAACCTGACCCGGCTGACATTTAAAAATTGGTAGATTTTAGGCCGGGCACAGTGGCTCACACCGGTAATCCCAACACTTTGGGAGGCTGAGGCGGGCGGATTGCTCGAGCTCAGGAGTTCAAGACCAGCCTGGGTAACGTAGTGAGACCCCATCTCTACAAAAAAAGTACAAAGATTAGCCGGGCAATGTGGCGTGTGCCTGTAGTCCCAGCAACTCGGAAGGCTGAGGGAGAAGGATCACTTGAGCCCAGGAGGTCGAGGCTGTAGTGAGCCCATCTCAAAAATAATCATAATTGGTAGATTTTTTCCCCCTCCCCAAAAAAAGTAGTCAATTTTGATTGAGCACTTATGATGGAGGCATTTTTTTTTTTTTTTATTGAGATGGAGTCTCGTTCTGTCACCCAGGCTGGAGTGCAGTGTTGCAATCTCAGCTCACTGCAACCTCTGCCTCCTTGGGTTCAAGCGATTCTCCAGCTTCAGCCTCTCAAGTAGCTGGGGATTACAGGCATGTGCCACCATGCCTGTCTAATTTTTTGTATTTCGTAGAGATGATGTTTCACCATGTTAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACGCCTGGCCTGATTTCTAGTTTCTCTTGGAAATTTAGTAGATCTGATCCCATGGTCCACTGGCACATCTGGCAAGAGTCAGCTGACTGTAAAGCAAGCGCTCTGCCTTTTGCCTGCACCTGGGCCGTGTCACTTGTTTTTGTCACCTCCCAACCCCTGGAAGCATTTGTGTTTGTGAACCCTGCTTTAAAGAGCTGCTTCT | TGTTGGTCAGGCTGGTCTCAAACCCCTGTCCTTAGGTGATCCACATGTCTTGGGCTCCCAAAGTGCTGGGATTGCAGGCATGAGCCACCACAACACCTCGCCTGAATCTGCTGTGATTCGAAGGACTGCCCCGGGAAAAAAAAGAAAAAAACACTTCAAGTAGACTCCCATGTGGGAGGACCTGAAGACTTCTCAGACTTCCATGGTCCCTGATCTAACACAGCAATAAATCATTCAAACTGAGCACTTTTTACACATTTTTGGACCCTTTCTGAGGACTTTCTGCACAAACCTAGGAGGTAGGTTATCATTATCCCCACTCTGCAGATGCCTCCAAAGCCCTCTACCTACCTCCTTTATCACCTCTTCATCTCTTGGTTCAATGTGTATTTAATGAGCACCTACTGTGTGTCAGGCACTATTCTAGACTTTGGGGATGAAGCAGTGGGCACCTCTTAGATAGTGACATTGAACTGAATGATGAAAAAGAATCTGGCTTGAGAAGGTGTGGCAAAAAAGAGAAGTCCCAACATTACCAGCAATCTTCCTACTTCCACCATTTTGCCCATTCTTTTTCCTCTGCTGGAAATGCCTTTCCCCAGCTAACAAACTCCTACTTATCCTGCAAAGCCCAATTCCAATACCTGCTTCTCCTAGGAATGCTTTCCGGTCTGATCTCCAGGAAGAATCCACAACACCCTTCTCTGGGCTCCCACAATCTACTCCACAGGTGGCCAAAAAATGAATGAGGAGGTCTCAGTAGAAGTCGGCCACACCAGGCTGGAAGCTCTTCAAGGCCAAGACCCAGGCTAAGTCCTCTCTGGGACCCCTCTTCCAAGATGAGCTGTGGGAACACTGCAGCTTTTTTTTTTTTTTTTGAGACGGTGTCTGGCTCTGTCGCCCAGGCTGGAGTGCAGAGGCGCCATCTCAGCTCACTGCAAGCTCCACCTCCCAGGTTCACACCATTTTCCTGCCTCAGTCTCCTGAGTAGCTGGGACTACAGGTGCCCGTCACCTCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGCGGTTTCACCGTGTTAGCCAGGATGGTTTCGATCTCCTGACCTCGTGATCCGCCCACCTCAGCCTCCCAAAGTGCTAAGATTACAGGCGTGAGCCACTGTGCCCGGCCCTGCAGCTATTTTTAAAATAAGGAATAAGTGGGGTGTGGTGGCTCATGCCTGTAGTCCCAGCACTTTGGGAGGCAAAGGTGGGAGGATCACTTGAGGCCAGGAGTTTGAGACCAGCCTGGGCGACATAGTAAGACCCCATCTCTAATACATATATATATATATTTGCCAGATGTGGTAGCACACAACTGTAGTCCCAGCTACTCTGGAGAGCAAGGTGGGAGGGAGGGTTGCTTGGGCCCAGAAATTTGAGGCCACATTGAGCTAGGATGGCGCCACTGCACTCCAGCCTGGGCCACAGAGTGAGATTCTGTCTCAAAAAAATAAAAATAAATAAAGCAGAAACAGTAGAAAACGAAGACGAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGTACTTTGGGAGGCCGAGGTGGGAAGATCACGAGGTCAGGAGTTCAAGACCAGCCTGGCCAAGGTGAAACCCATCTCTACTAAAAATAACAAAATTAACCGGGTGCAGTGGTGTGCATCTGTAATCCCAGCTACTGGGGCAGCTGAGCCAGGAGAATGGCTTGAACCCAGAAGGCAGAGGTTGCAGTGACCCAACATCGTGCCACCGCACTCCAGCCTGGGTGACAGAGCAAGACTCCGTCTCAAAAAAAAAAAAAAAAGAAGACGAATTGGTCGGTAAGGGGACTCGAACTGGAGACTCTAAAACTTCTCCAGCCCTGCCCACTCAATTTACTTCATTGGCTCCTCCCTTTCAGGCTCCGTCCCTATCCCCGCCTCACCCTTAATGGCGCCCGCCCAGACTCCTGGAAGTGAGCGGCCTAGCGAGCGAGCTCCCAGGCGCAAAGCACGCCGGAAGCTGTAGTTCCGCCATCGGACGGAAGCCGACCGGGGCGTGCCCGGAGGGATGTGGCCCGGAATATTGGTAGGGGGGGCCCGGGTGGCGTCATGCAGGTACCCCGCGCTGGGGCCTCGCCTCGCCGCTCACTTTCCAGCGCAGCGGCCGCCGCAGCGGACACTCCAGAACGGCCTGGCCCTGCAGCGGTGCCTGCACGCGACGGCGACCCGGGCTCTCCCGCTCATTCCCATCGTGGTGGAGCAGACGGTACGGCGGCCGGGCGGGGACACGGTTCGGGGGCTCCGGGCTGGGTGGGGATCGGCTGGCTGCCCCGGCCCCTCACCTCCATCTTTCTACCCCCAGGGTCGCGGCGAGCGCGCCTATGACATCTACTCGCGGCTGCTGCGGGAGCGCATCGTGTGCGTCATGGGCCCGGTGAGCGCCCCGCGCCGGGACCCTCCCCAGGACTCTCCCAAGCGCCTGCCGACACTCCCTGCGCCCCTCCTTCCCTGGCCCCAGACTTTCCCTCAGGCTCCGCTCCCCTTCTAACCCCCTTCCCTCCCCTTCTGACTCCCCTCCTGGCTCCCGGTCCCCCAACCCGCTCCTCACCCCTTCTCTGCTCCTCGGCTCTTAATCTCCGACTTCCTTCCTGACACCTGGCACCGCTCCCCTCATTCCTACGCTCAAGACTCTCCCCAGCCATTCTCACCCCTTCCTTTCCTGTGTCCCTAGCCCCCTGACTCCCCCCTTCCTGTGCTCCAAACCCCCTGGGTCCTCTCCACTACTCTCTCCCCATCCCCTTCTGGGGCCTAAATTCTTCCCCATCCCTTTTACTTTGGGCTCTGGTCCCCCTTCCTGGTTCCCTGACCCATCCCCAGCCTCCCTTAAAACTCTCTCCCCACCCCGAATCTGGGGACACCCCTGCCCTCTCCACCTGCAGATCGATGACAGCGTTGCCAGCCTTGTTATCGCACAGCTCCTCTTCCTGCAATCCGAGAGCAACAAGAAGCCCATCCACATGTACATCAACAGCCCTGGTGAGCAGGGTCTTTCCTGGGTGCCAGGGGCACTCGTCAGGGCACACGGGTGACTCAGGGGACCAGAATCCCGGGTCAGGGATGTTCTCTCTCTGGGAAAGGGTGCAGAGCGTCAGAGTTCCAGAAGTGGCTTTAAACCACCAAAAGGTGCCTGTTGCTGGCTTTTGAGCCTCGGTTCACAAGTCAGGATGTGGCCTCTTTGATCCTGCACATACTGTTCTGCCAACCTGACCCGGCTGACATTTAAAAATTGGTAGATTTTAGGCCGGGCACAGTGGCTCACACCGGTAATCCCAACACTTTGGGAGGCTGAGGCGGGCGGATTGCTCGAGCTCAGGAGTTCAAGACCAGCCTGGGTAACGTAGTGAGACCCCATCTCTACAAAAAAAGTACAAAGATTAGCCGGGCAATGTGGCGTGTGCCTGTAGTCCCAGCAACTCGGAAGGCTGAGGGAGAAGGATCACTTGAGCCCAGGAGGTCGAGGCTGTAGTGAGCCCATCTCAAAAATAATCATAATTGGTAGATTTTTTCCCCCTCCCCAAAAAAAGTAGTCAATTTTGATTGAGCACTTATGATGGAGGCATTTTTTTTTTTTTTTATTGAGATGGAGTCTCGTTCTGTCACCCAGGCTGGAGTGCAGTGTTGCAATCTCAGCTCACTGCAACCTCTGCCTCCTTGGGTTCAAGCGATTCTCCAGCTTCAGCCTCTCAAGTAGCTGGGGATTACAGGCATGTGCCACCATGCCTGTCTAATTTTTTGTATTTCGTAGAGATGATGTTTCACCATGTTAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACGCCTGGCCTGATTTCTAGTTTCTCTTGGAAATTTAGTAGATCTGATCCCATGGTCCACTGGCACATCTGGCAAGAGTCAGCTGACTGTAAAGCAAGCGCTCTGCCTTTTGCCTGCACCTGGGCCGTGTCACTTGTTTTTGTCACCTCCCAACCCCTGGAAGCATTTGTGTTTGTGAACCCTGCTTTAAAGAGCTGCTT | benign | 294,555 |
Is chromosome 19, position 6361594, gene CLPP (caseinolytic mitochondrial matrix peptidase proteolytic subunit) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Perrault_syndrome_3'] | GTCCTTAGGTGATCCACATGTCTTGGGCTCCCAAAGTGCTGGGATTGCAGGCATGAGCCACCACAACACCTCGCCTGAATCTGCTGTGATTCGAAGGACTGCCCCGGGAAAAAAAAGAAAAAAACACTTCAAGTAGACTCCCATGTGGGAGGACCTGAAGACTTCTCAGACTTCCATGGTCCCTGATCTAACACAGCAATAAATCATTCAAACTGAGCACTTTTTACACATTTTTGGACCCTTTCTGAGGACTTTCTGCACAAACCTAGGAGGTAGGTTATCATTATCCCCACTCTGCAGATGCCTCCAAAGCCCTCTACCTACCTCCTTTATCACCTCTTCATCTCTTGGTTCAATGTGTATTTAATGAGCACCTACTGTGTGTCAGGCACTATTCTAGACTTTGGGGATGAAGCAGTGGGCACCTCTTAGATAGTGACATTGAACTGAATGATGAAAAAGAATCTGGCTTGAGAAGGTGTGGCAAAAAAGAGAAGTCCCAACATTACCAGCAATCTTCCTACTTCCACCATTTTGCCCATTCTTTTTCCTCTGCTGGAAATGCCTTTCCCCAGCTAACAAACTCCTACTTATCCTGCAAAGCCCAATTCCAATACCTGCTTCTCCTAGGAATGCTTTCCGGTCTGATCTCCAGGAAGAATCCACAACACCCTTCTCTGGGCTCCCACAATCTACTCCACAGGTGGCCAAAAAATGAATGAGGAGGTCTCAGTAGAAGTCGGCCACACCAGGCTGGAAGCTCTTCAAGGCCAAGACCCAGGCTAAGTCCTCTCTGGGACCCCTCTTCCAAGATGAGCTGTGGGAACACTGCAGCTTTTTTTTTTTTTTTTGAGACGGTGTCTGGCTCTGTCGCCCAGGCTGGAGTGCAGAGGCGCCATCTCAGCTCACTGCAAGCTCCACCTCCCAGGTTCACACCATTTTCCTGCCTCAGTCTCCTGAGTAGCTGGGACTACAGGTGCCCGTCACCTCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGCGGTTTCACCGTGTTAGCCAGGATGGTTTCGATCTCCTGACCTCGTGATCCGCCCACCTCAGCCTCCCAAAGTGCTAAGATTACAGGCGTGAGCCACTGTGCCCGGCCCTGCAGCTATTTTTAAAATAAGGAATAAGTGGGGTGTGGTGGCTCATGCCTGTAGTCCCAGCACTTTGGGAGGCAAAGGTGGGAGGATCACTTGAGGCCAGGAGTTTGAGACCAGCCTGGGCGACATAGTAAGACCCCATCTCTAATACATATATATATATATTTGCCAGATGTGGTAGCACACAACTGTAGTCCCAGCTACTCTGGAGAGCAAGGTGGGAGGGAGGGTTGCTTGGGCCCAGAAATTTGAGGCCACATTGAGCTAGGATGGCGCCACTGCACTCCAGCCTGGGCCACAGAGTGAGATTCTGTCTCAAAAAAATAAAAATAAATAAAGCAGAAACAGTAGAAAACGAAGACGAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGTACTTTGGGAGGCCGAGGTGGGAAGATCACGAGGTCAGGAGTTCAAGACCAGCCTGGCCAAGGTGAAACCCATCTCTACTAAAAATAACAAAATTAACCGGGTGCAGTGGTGTGCATCTGTAATCCCAGCTACTGGGGCAGCTGAGCCAGGAGAATGGCTTGAACCCAGAAGGCAGAGGTTGCAGTGACCCAACATCGTGCCACCGCACTCCAGCCTGGGTGACAGAGCAAGACTCCGTCTCAAAAAAAAAAAAAAAAGAAGACGAATTGGTCGGTAAGGGGACTCGAACTGGAGACTCTAAAACTTCTCCAGCCCTGCCCACTCAATTTACTTCATTGGCTCCTCCCTTTCAGGCTCCGTCCCTATCCCCGCCTCACCCTTAATGGCGCCCGCCCAGACTCCTGGAAGTGAGCGGCCTAGCGAGCGAGCTCCCAGGCGCAAAGCACGCCGGAAGCTGTAGTTCCGCCATCGGACGGAAGCCGACCGGGGCGTGCGGAGGGATGTGGCCCGGAATATTGGTAGGGGGGGCCCGGGTGGCGTCATGCAGGTACCCCGCGCTGGGGCCTCGCCTCGCCGCTCACTTTCCAGCGCAGCGGCCGCCGCAGCGGACACTCCAGAACGGCCTGGCCCTGCAGCGGTGCCTGCACGCGACGGCGACCCGGGCTCTCCCGCTCATTCCCATCGTGGTGGAGCAGACGGTACGGCGGCCGGGCGGGGACACGGTTCGGGGGCTCCGGGCTGGGTGGGGATCGGCTGGCTGCCCCGGCCCCTCACCTCCATCTTTCTACCCCCAGGGTCGCGGCGAGCGCGCCTATGACATCTACTCGCGGCTGCTGCGGGAGCGCATCGTGTGCGTCATGGGCCCGGTGAGCGCCCCGCGCCGGGACCCTCCCCAGGACTCTCCCAAGCGCCTGCCGACACTCCCTGCGCCCCTCCTTCCCTGGCCCCAGACTTTCCCTCAGGCTCCGCTCCCCTTCTAACCCCCTTCCCTCCCCTTCTGACTCCCCTCCTGGCTCCCGGTCCCCCAACCCGCTCCTCACCCCTTCTCTGCTCCTCGGCTCTTAATCTCCGACTTCCTTCCTGACACCTGGCACCGCTCCCCTCATTCCTACGCTCAAGACTCTCCCCAGCCATTCTCACCCCTTCCTTTCCTGTGTCCCTAGCCCCCTGACTCCCCCCTTCCTGTGCTCCAAACCCCCTGGGTCCTCTCCACTACTCTCTCCCCATCCCCTTCTGGGGCCTAAATTCTTCCCCATCCCTTTTACTTTGGGCTCTGGTCCCCCTTCCTGGTTCCCTGACCCATCCCCAGCCTCCCTTAAAACTCTCTCCCCACCCCGAATCTGGGGACACCCCTGCCCTCTCCACCTGCAGATCGATGACAGCGTTGCCAGCCTTGTTATCGCACAGCTCCTCTTCCTGCAATCCGAGAGCAACAAGAAGCCCATCCACATGTACATCAACAGCCCTGGTGAGCAGGGTCTTTCCTGGGTGCCAGGGGCACTCGTCAGGGCACACGGGTGACTCAGGGGACCAGAATCCCGGGTCAGGGATGTTCTCTCTCTGGGAAAGGGTGCAGAGCGTCAGAGTTCCAGAAGTGGCTTTAAACCACCAAAAGGTGCCTGTTGCTGGCTTTTGAGCCTCGGTTCACAAGTCAGGATGTGGCCTCTTTGATCCTGCACATACTGTTCTGCCAACCTGACCCGGCTGACATTTAAAAATTGGTAGATTTTAGGCCGGGCACAGTGGCTCACACCGGTAATCCCAACACTTTGGGAGGCTGAGGCGGGCGGATTGCTCGAGCTCAGGAGTTCAAGACCAGCCTGGGTAACGTAGTGAGACCCCATCTCTACAAAAAAAGTACAAAGATTAGCCGGGCAATGTGGCGTGTGCCTGTAGTCCCAGCAACTCGGAAGGCTGAGGGAGAAGGATCACTTGAGCCCAGGAGGTCGAGGCTGTAGTGAGCCCATCTCAAAAATAATCATAATTGGTAGATTTTTTCCCCCTCCCCAAAAAAAGTAGTCAATTTTGATTGAGCACTTATGATGGAGGCATTTTTTTTTTTTTTTATTGAGATGGAGTCTCGTTCTGTCACCCAGGCTGGAGTGCAGTGTTGCAATCTCAGCTCACTGCAACCTCTGCCTCCTTGGGTTCAAGCGATTCTCCAGCTTCAGCCTCTCAAGTAGCTGGGGATTACAGGCATGTGCCACCATGCCTGTCTAATTTTTTGTATTTCGTAGAGATGATGTTTCACCATGTTAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACGCCTGGCCTGATTTCTAGTTTCTCTTGGAAATTTAGTAGATCTGATCCCATGGTCCACTGGCACATCTGGCAAGAGTCAGCTGACTGTAAAGCAAGCGCTCTGCCTTTTGCCTGCACCTGGGCCGTGTCACTTGTTTTTGTCACCTCCCAACCCCTGGAAGCATTTGTGTTTGTGAACCCTGCTTTAAAGAGCTGCTTCTAGACCGGACGCAGTGGCTTACGCTTGT | GTCCTTAGGTGATCCACATGTCTTGGGCTCCCAAAGTGCTGGGATTGCAGGCATGAGCCACCACAACACCTCGCCTGAATCTGCTGTGATTCGAAGGACTGCCCCGGGAAAAAAAAGAAAAAAACACTTCAAGTAGACTCCCATGTGGGAGGACCTGAAGACTTCTCAGACTTCCATGGTCCCTGATCTAACACAGCAATAAATCATTCAAACTGAGCACTTTTTACACATTTTTGGACCCTTTCTGAGGACTTTCTGCACAAACCTAGGAGGTAGGTTATCATTATCCCCACTCTGCAGATGCCTCCAAAGCCCTCTACCTACCTCCTTTATCACCTCTTCATCTCTTGGTTCAATGTGTATTTAATGAGCACCTACTGTGTGTCAGGCACTATTCTAGACTTTGGGGATGAAGCAGTGGGCACCTCTTAGATAGTGACATTGAACTGAATGATGAAAAAGAATCTGGCTTGAGAAGGTGTGGCAAAAAAGAGAAGTCCCAACATTACCAGCAATCTTCCTACTTCCACCATTTTGCCCATTCTTTTTCCTCTGCTGGAAATGCCTTTCCCCAGCTAACAAACTCCTACTTATCCTGCAAAGCCCAATTCCAATACCTGCTTCTCCTAGGAATGCTTTCCGGTCTGATCTCCAGGAAGAATCCACAACACCCTTCTCTGGGCTCCCACAATCTACTCCACAGGTGGCCAAAAAATGAATGAGGAGGTCTCAGTAGAAGTCGGCCACACCAGGCTGGAAGCTCTTCAAGGCCAAGACCCAGGCTAAGTCCTCTCTGGGACCCCTCTTCCAAGATGAGCTGTGGGAACACTGCAGCTTTTTTTTTTTTTTTTGAGACGGTGTCTGGCTCTGTCGCCCAGGCTGGAGTGCAGAGGCGCCATCTCAGCTCACTGCAAGCTCCACCTCCCAGGTTCACACCATTTTCCTGCCTCAGTCTCCTGAGTAGCTGGGACTACAGGTGCCCGTCACCTCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGCGGTTTCACCGTGTTAGCCAGGATGGTTTCGATCTCCTGACCTCGTGATCCGCCCACCTCAGCCTCCCAAAGTGCTAAGATTACAGGCGTGAGCCACTGTGCCCGGCCCTGCAGCTATTTTTAAAATAAGGAATAAGTGGGGTGTGGTGGCTCATGCCTGTAGTCCCAGCACTTTGGGAGGCAAAGGTGGGAGGATCACTTGAGGCCAGGAGTTTGAGACCAGCCTGGGCGACATAGTAAGACCCCATCTCTAATACATATATATATATATTTGCCAGATGTGGTAGCACACAACTGTAGTCCCAGCTACTCTGGAGAGCAAGGTGGGAGGGAGGGTTGCTTGGGCCCAGAAATTTGAGGCCACATTGAGCTAGGATGGCGCCACTGCACTCCAGCCTGGGCCACAGAGTGAGATTCTGTCTCAAAAAAATAAAAATAAATAAAGCAGAAACAGTAGAAAACGAAGACGAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGTACTTTGGGAGGCCGAGGTGGGAAGATCACGAGGTCAGGAGTTCAAGACCAGCCTGGCCAAGGTGAAACCCATCTCTACTAAAAATAACAAAATTAACCGGGTGCAGTGGTGTGCATCTGTAATCCCAGCTACTGGGGCAGCTGAGCCAGGAGAATGGCTTGAACCCAGAAGGCAGAGGTTGCAGTGACCCAACATCGTGCCACCGCACTCCAGCCTGGGTGACAGAGCAAGACTCCGTCTCAAAAAAAAAAAAAAAAGAAGACGAATTGGTCGGTAAGGGGACTCGAACTGGAGACTCTAAAACTTCTCCAGCCCTGCCCACTCAATTTACTTCATTGGCTCCTCCCTTTCAGGCTCCGTCCCTATCCCCGCCTCACCCTTAATGGCGCCCGCCCAGACTCCTGGAAGTGAGCGGCCTAGCGAGCGAGCTCCCAGGCGCAAAGCACGCCGGAAGCTGTAGTTCCGCCATCGGACGGAAGCCGACCGGGGCGTGCGGAGGGATGTGGCCCGGAATATTGGTGGGGGGGCCCGGGTGGCGTCATGCAGGTACCCCGCGCTGGGGCCTCGCCTCGCCGCTCACTTTCCAGCGCAGCGGCCGCCGCAGCGGACACTCCAGAACGGCCTGGCCCTGCAGCGGTGCCTGCACGCGACGGCGACCCGGGCTCTCCCGCTCATTCCCATCGTGGTGGAGCAGACGGTACGGCGGCCGGGCGGGGACACGGTTCGGGGGCTCCGGGCTGGGTGGGGATCGGCTGGCTGCCCCGGCCCCTCACCTCCATCTTTCTACCCCCAGGGTCGCGGCGAGCGCGCCTATGACATCTACTCGCGGCTGCTGCGGGAGCGCATCGTGTGCGTCATGGGCCCGGTGAGCGCCCCGCGCCGGGACCCTCCCCAGGACTCTCCCAAGCGCCTGCCGACACTCCCTGCGCCCCTCCTTCCCTGGCCCCAGACTTTCCCTCAGGCTCCGCTCCCCTTCTAACCCCCTTCCCTCCCCTTCTGACTCCCCTCCTGGCTCCCGGTCCCCCAACCCGCTCCTCACCCCTTCTCTGCTCCTCGGCTCTTAATCTCCGACTTCCTTCCTGACACCTGGCACCGCTCCCCTCATTCCTACGCTCAAGACTCTCCCCAGCCATTCTCACCCCTTCCTTTCCTGTGTCCCTAGCCCCCTGACTCCCCCCTTCCTGTGCTCCAAACCCCCTGGGTCCTCTCCACTACTCTCTCCCCATCCCCTTCTGGGGCCTAAATTCTTCCCCATCCCTTTTACTTTGGGCTCTGGTCCCCCTTCCTGGTTCCCTGACCCATCCCCAGCCTCCCTTAAAACTCTCTCCCCACCCCGAATCTGGGGACACCCCTGCCCTCTCCACCTGCAGATCGATGACAGCGTTGCCAGCCTTGTTATCGCACAGCTCCTCTTCCTGCAATCCGAGAGCAACAAGAAGCCCATCCACATGTACATCAACAGCCCTGGTGAGCAGGGTCTTTCCTGGGTGCCAGGGGCACTCGTCAGGGCACACGGGTGACTCAGGGGACCAGAATCCCGGGTCAGGGATGTTCTCTCTCTGGGAAAGGGTGCAGAGCGTCAGAGTTCCAGAAGTGGCTTTAAACCACCAAAAGGTGCCTGTTGCTGGCTTTTGAGCCTCGGTTCACAAGTCAGGATGTGGCCTCTTTGATCCTGCACATACTGTTCTGCCAACCTGACCCGGCTGACATTTAAAAATTGGTAGATTTTAGGCCGGGCACAGTGGCTCACACCGGTAATCCCAACACTTTGGGAGGCTGAGGCGGGCGGATTGCTCGAGCTCAGGAGTTCAAGACCAGCCTGGGTAACGTAGTGAGACCCCATCTCTACAAAAAAAGTACAAAGATTAGCCGGGCAATGTGGCGTGTGCCTGTAGTCCCAGCAACTCGGAAGGCTGAGGGAGAAGGATCACTTGAGCCCAGGAGGTCGAGGCTGTAGTGAGCCCATCTCAAAAATAATCATAATTGGTAGATTTTTTCCCCCTCCCCAAAAAAAGTAGTCAATTTTGATTGAGCACTTATGATGGAGGCATTTTTTTTTTTTTTTATTGAGATGGAGTCTCGTTCTGTCACCCAGGCTGGAGTGCAGTGTTGCAATCTCAGCTCACTGCAACCTCTGCCTCCTTGGGTTCAAGCGATTCTCCAGCTTCAGCCTCTCAAGTAGCTGGGGATTACAGGCATGTGCCACCATGCCTGTCTAATTTTTTGTATTTCGTAGAGATGATGTTTCACCATGTTAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACGCCTGGCCTGATTTCTAGTTTCTCTTGGAAATTTAGTAGATCTGATCCCATGGTCCACTGGCACATCTGGCAAGAGTCAGCTGACTGTAAAGCAAGCGCTCTGCCTTTTGCCTGCACCTGGGCCGTGTCACTTGTTTTTGTCACCTCCCAACCCCTGGAAGCATTTGTGTTTGTGAACCCTGCTTTAAAGAGCTGCTTCTAGACCGGACGCAGTGGCTTACGCTTGTN | pathogenic | 294,557 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 19, position 6361834, gene CLPP. What disease(s) is it linked to if pathogenic? | benign | CTTTCTGAGGACTTTCTGCACAAACCTAGGAGGTAGGTTATCATTATCCCCACTCTGCAGATGCCTCCAAAGCCCTCTACCTACCTCCTTTATCACCTCTTCATCTCTTGGTTCAATGTGTATTTAATGAGCACCTACTGTGTGTCAGGCACTATTCTAGACTTTGGGGATGAAGCAGTGGGCACCTCTTAGATAGTGACATTGAACTGAATGATGAAAAAGAATCTGGCTTGAGAAGGTGTGGCAAAAAAGAGAAGTCCCAACATTACCAGCAATCTTCCTACTTCCACCATTTTGCCCATTCTTTTTCCTCTGCTGGAAATGCCTTTCCCCAGCTAACAAACTCCTACTTATCCTGCAAAGCCCAATTCCAATACCTGCTTCTCCTAGGAATGCTTTCCGGTCTGATCTCCAGGAAGAATCCACAACACCCTTCTCTGGGCTCCCACAATCTACTCCACAGGTGGCCAAAAAATGAATGAGGAGGTCTCAGTAGAAGTCGGCCACACCAGGCTGGAAGCTCTTCAAGGCCAAGACCCAGGCTAAGTCCTCTCTGGGACCCCTCTTCCAAGATGAGCTGTGGGAACACTGCAGCTTTTTTTTTTTTTTTTGAGACGGTGTCTGGCTCTGTCGCCCAGGCTGGAGTGCAGAGGCGCCATCTCAGCTCACTGCAAGCTCCACCTCCCAGGTTCACACCATTTTCCTGCCTCAGTCTCCTGAGTAGCTGGGACTACAGGTGCCCGTCACCTCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGCGGTTTCACCGTGTTAGCCAGGATGGTTTCGATCTCCTGACCTCGTGATCCGCCCACCTCAGCCTCCCAAAGTGCTAAGATTACAGGCGTGAGCCACTGTGCCCGGCCCTGCAGCTATTTTTAAAATAAGGAATAAGTGGGGTGTGGTGGCTCATGCCTGTAGTCCCAGCACTTTGGGAGGCAAAGGTGGGAGGATCACTTGAGGCCAGGAGTTTGAGACCAGCCTGGGCGACATAGTAAGACCCCATCTCTAATACATATATATATATATTTGCCAGATGTGGTAGCACACAACTGTAGTCCCAGCTACTCTGGAGAGCAAGGTGGGAGGGAGGGTTGCTTGGGCCCAGAAATTTGAGGCCACATTGAGCTAGGATGGCGCCACTGCACTCCAGCCTGGGCCACAGAGTGAGATTCTGTCTCAAAAAAATAAAAATAAATAAAGCAGAAACAGTAGAAAACGAAGACGAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGTACTTTGGGAGGCCGAGGTGGGAAGATCACGAGGTCAGGAGTTCAAGACCAGCCTGGCCAAGGTGAAACCCATCTCTACTAAAAATAACAAAATTAACCGGGTGCAGTGGTGTGCATCTGTAATCCCAGCTACTGGGGCAGCTGAGCCAGGAGAATGGCTTGAACCCAGAAGGCAGAGGTTGCAGTGACCCAACATCGTGCCACCGCACTCCAGCCTGGGTGACAGAGCAAGACTCCGTCTCAAAAAAAAAAAAAAAAGAAGACGAATTGGTCGGTAAGGGGACTCGAACTGGAGACTCTAAAACTTCTCCAGCCCTGCCCACTCAATTTACTTCATTGGCTCCTCCCTTTCAGGCTCCGTCCCTATCCCCGCCTCACCCTTAATGGCGCCCGCCCAGACTCCTGGAAGTGAGCGGCCTAGCGAGCGAGCTCCCAGGCGCAAAGCACGCCGGAAGCTGTAGTTCCGCCATCGGACGGAAGCCGACCGGGGCGTGCGGAGGGATGTGGCCCGGAATATTGGTAGGGGGGGCCCGGGTGGCGTCATGCAGGTACCCCGCGCTGGGGCCTCGCCTCGCCGCTCACTTTCCAGCGCAGCGGCCGCCGCAGCGGACACTCCAGAACGGCCTGGCCCTGCAGCGGTGCCTGCACGCGACGGCGACCCGGGCTCTCCCGCTCATTCCCATCGTGGTGGAGCAGACGGTACGGCGGCCGGGCGGGGACACGGTTCGGGGGCTCCGGGCTGGGTGGGGATCGGCTGGCTGCCCCGGCCCCTCACCTCCATCTTTCTACCCCCAGGGTCGCGGCGAGCGCGCCTATGACATCTACTCGCGGCTGCTGCGGGAGCGCATCGTGTGCGTCATGGGCCCGGTGAGCGCCCCGCGCCGGGACCCTCCCCAGGACTCTCCCAAGCGCCTGCCGACACTCCCTGCGCCCCTCCTTCCCTGGCCCCAGACTTTCCCTCAGGCTCCGCTCCCCTTCTAACCCCCTTCCCTCCCCTTCTGACTCCCCTCCTGGCTCCCGGTCCCCCAACCCGCTCCTCACCCCTTCTCTGCTCCTCGGCTCTTAATCTCCGACTTCCTTCCTGACACCTGGCACCGCTCCCCTCATTCCTACGCTCAAGACTCTCCCCAGCCATTCTCACCCCTTCCTTTCCTGTGTCCCTAGCCCCCTGACTCCCCCCTTCCTGTGCTCCAAACCCCCTGGGTCCTCTCCACTACTCTCTCCCCATCCCCTTCTGGGGCCTAAATTCTTCCCCATCCCTTTTACTTTGGGCTCTGGTCCCCCTTCCTGGTTCCCTGACCCATCCCCAGCCTCCCTTAAAACTCTCTCCCCACCCCGAATCTGGGGACACCCCTGCCCTCTCCACCTGCAGATCGATGACAGCGTTGCCAGCCTTGTTATCGCACAGCTCCTCTTCCTGCAATCCGAGAGCAACAAGAAGCCCATCCACATGTACATCAACAGCCCTGGTGAGCAGGGTCTTTCCTGGGTGCCAGGGGCACTCGTCAGGGCACACGGGTGACTCAGGGGACCAGAATCCCGGGTCAGGGATGTTCTCTCTCTGGGAAAGGGTGCAGAGCGTCAGAGTTCCAGAAGTGGCTTTAAACCACCAAAAGGTGCCTGTTGCTGGCTTTTGAGCCTCGGTTCACAAGTCAGGATGTGGCCTCTTTGATCCTGCACATACTGTTCTGCCAACCTGACCCGGCTGACATTTAAAAATTGGTAGATTTTAGGCCGGGCACAGTGGCTCACACCGGTAATCCCAACACTTTGGGAGGCTGAGGCGGGCGGATTGCTCGAGCTCAGGAGTTCAAGACCAGCCTGGGTAACGTAGTGAGACCCCATCTCTACAAAAAAAGTACAAAGATTAGCCGGGCAATGTGGCGTGTGCCTGTAGTCCCAGCAACTCGGAAGGCTGAGGGAGAAGGATCACTTGAGCCCAGGAGGTCGAGGCTGTAGTGAGCCCATCTCAAAAATAATCATAATTGGTAGATTTTTTCCCCCTCCCCAAAAAAAGTAGTCAATTTTGATTGAGCACTTATGATGGAGGCATTTTTTTTTTTTTTTATTGAGATGGAGTCTCGTTCTGTCACCCAGGCTGGAGTGCAGTGTTGCAATCTCAGCTCACTGCAACCTCTGCCTCCTTGGGTTCAAGCGATTCTCCAGCTTCAGCCTCTCAAGTAGCTGGGGATTACAGGCATGTGCCACCATGCCTGTCTAATTTTTTGTATTTCGTAGAGATGATGTTTCACCATGTTAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACGCCTGGCCTGATTTCTAGTTTCTCTTGGAAATTTAGTAGATCTGATCCCATGGTCCACTGGCACATCTGGCAAGAGTCAGCTGACTGTAAAGCAAGCGCTCTGCCTTTTGCCTGCACCTGGGCCGTGTCACTTGTTTTTGTCACCTCCCAACCCCTGGAAGCATTTGTGTTTGTGAACCCTGCTTTAAAGAGCTGCTTCTAGACCGGACGCAGTGGCTTACGCTTGTCATTCCAGCACTTTGGGAGGCTGAAGTGGGCTGATCACTTGAGGTCAGGAGTTTGAGAGCAGCCTGGCCAACGTGGTGAAATCCCATCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTGGTGTACTTGTAATCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCATAAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATCGCGCTACTGCACTCCAGCCTACGTGACAGTGA | CTTTCTGAGGACTTTCTGCACAAACCTAGGAGGTAGGTTATCATTATCCCCACTCTGCAGATGCCTCCAAAGCCCTCTACCTACCTCCTTTATCACCTCTTCATCTCTTGGTTCAATGTGTATTTAATGAGCACCTACTGTGTGTCAGGCACTATTCTAGACTTTGGGGATGAAGCAGTGGGCACCTCTTAGATAGTGACATTGAACTGAATGATGAAAAAGAATCTGGCTTGAGAAGGTGTGGCAAAAAAGAGAAGTCCCAACATTACCAGCAATCTTCCTACTTCCACCATTTTGCCCATTCTTTTTCCTCTGCTGGAAATGCCTTTCCCCAGCTAACAAACTCCTACTTATCCTGCAAAGCCCAATTCCAATACCTGCTTCTCCTAGGAATGCTTTCCGGTCTGATCTCCAGGAAGAATCCACAACACCCTTCTCTGGGCTCCCACAATCTACTCCACAGGTGGCCAAAAAATGAATGAGGAGGTCTCAGTAGAAGTCGGCCACACCAGGCTGGAAGCTCTTCAAGGCCAAGACCCAGGCTAAGTCCTCTCTGGGACCCCTCTTCCAAGATGAGCTGTGGGAACACTGCAGCTTTTTTTTTTTTTTTTGAGACGGTGTCTGGCTCTGTCGCCCAGGCTGGAGTGCAGAGGCGCCATCTCAGCTCACTGCAAGCTCCACCTCCCAGGTTCACACCATTTTCCTGCCTCAGTCTCCTGAGTAGCTGGGACTACAGGTGCCCGTCACCTCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGCGGTTTCACCGTGTTAGCCAGGATGGTTTCGATCTCCTGACCTCGTGATCCGCCCACCTCAGCCTCCCAAAGTGCTAAGATTACAGGCGTGAGCCACTGTGCCCGGCCCTGCAGCTATTTTTAAAATAAGGAATAAGTGGGGTGTGGTGGCTCATGCCTGTAGTCCCAGCACTTTGGGAGGCAAAGGTGGGAGGATCACTTGAGGCCAGGAGTTTGAGACCAGCCTGGGCGACATAGTAAGACCCCATCTCTAATACATATATATATATATTTGCCAGATGTGGTAGCACACAACTGTAGTCCCAGCTACTCTGGAGAGCAAGGTGGGAGGGAGGGTTGCTTGGGCCCAGAAATTTGAGGCCACATTGAGCTAGGATGGCGCCACTGCACTCCAGCCTGGGCCACAGAGTGAGATTCTGTCTCAAAAAAATAAAAATAAATAAAGCAGAAACAGTAGAAAACGAAGACGAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGTACTTTGGGAGGCCGAGGTGGGAAGATCACGAGGTCAGGAGTTCAAGACCAGCCTGGCCAAGGTGAAACCCATCTCTACTAAAAATAACAAAATTAACCGGGTGCAGTGGTGTGCATCTGTAATCCCAGCTACTGGGGCAGCTGAGCCAGGAGAATGGCTTGAACCCAGAAGGCAGAGGTTGCAGTGACCCAACATCGTGCCACCGCACTCCAGCCTGGGTGACAGAGCAAGACTCCGTCTCAAAAAAAAAAAAAAAAGAAGACGAATTGGTCGGTAAGGGGACTCGAACTGGAGACTCTAAAACTTCTCCAGCCCTGCCCACTCAATTTACTTCATTGGCTCCTCCCTTTCAGGCTCCGTCCCTATCCCCGCCTCACCCTTAATGGCGCCCGCCCAGACTCCTGGAAGTGAGCGGCCTAGCGAGCGAGCTCCCAGGCGCAAAGCACGCCGGAAGCTGTAGTTCCGCCATCGGACGGAAGCCGACCGGGGCGTGCGGAGGGATGTGGCCCGGAATATTGGTAGGGGGGGCCCGGGTGGCGTCATGCAGGTACCCCGCGCTGGGGCCTCGCCTCGCCGCTCACTTTCCAGCGCAGCGGCCGCCGCAGCGGACACTCCAGAACGGCCTGGCCCTGCAGCGGTGCCTGCACGCGACGGCGACCCGGGCTCTCCCGCTCATTCCCATCGTGGTGGAGCAGACGGTACGGCGGCCGGGCGGGGACACGGTTCGGGGGCTCCGGGCTGGGTGGGGATCGGCTGGCTGCCCCCGGCCCCTCACCTCCATCTTTCTACCCCCAGGGTCGCGGCGAGCGCGCCTATGACATCTACTCGCGGCTGCTGCGGGAGCGCATCGTGTGCGTCATGGGCCCGGTGAGCGCCCCGCGCCGGGACCCTCCCCAGGACTCTCCCAAGCGCCTGCCGACACTCCCTGCGCCCCTCCTTCCCTGGCCCCAGACTTTCCCTCAGGCTCCGCTCCCCTTCTAACCCCCTTCCCTCCCCTTCTGACTCCCCTCCTGGCTCCCGGTCCCCCAACCCGCTCCTCACCCCTTCTCTGCTCCTCGGCTCTTAATCTCCGACTTCCTTCCTGACACCTGGCACCGCTCCCCTCATTCCTACGCTCAAGACTCTCCCCAGCCATTCTCACCCCTTCCTTTCCTGTGTCCCTAGCCCCCTGACTCCCCCCTTCCTGTGCTCCAAACCCCCTGGGTCCTCTCCACTACTCTCTCCCCATCCCCTTCTGGGGCCTAAATTCTTCCCCATCCCTTTTACTTTGGGCTCTGGTCCCCCTTCCTGGTTCCCTGACCCATCCCCAGCCTCCCTTAAAACTCTCTCCCCACCCCGAATCTGGGGACACCCCTGCCCTCTCCACCTGCAGATCGATGACAGCGTTGCCAGCCTTGTTATCGCACAGCTCCTCTTCCTGCAATCCGAGAGCAACAAGAAGCCCATCCACATGTACATCAACAGCCCTGGTGAGCAGGGTCTTTCCTGGGTGCCAGGGGCACTCGTCAGGGCACACGGGTGACTCAGGGGACCAGAATCCCGGGTCAGGGATGTTCTCTCTCTGGGAAAGGGTGCAGAGCGTCAGAGTTCCAGAAGTGGCTTTAAACCACCAAAAGGTGCCTGTTGCTGGCTTTTGAGCCTCGGTTCACAAGTCAGGATGTGGCCTCTTTGATCCTGCACATACTGTTCTGCCAACCTGACCCGGCTGACATTTAAAAATTGGTAGATTTTAGGCCGGGCACAGTGGCTCACACCGGTAATCCCAACACTTTGGGAGGCTGAGGCGGGCGGATTGCTCGAGCTCAGGAGTTCAAGACCAGCCTGGGTAACGTAGTGAGACCCCATCTCTACAAAAAAAGTACAAAGATTAGCCGGGCAATGTGGCGTGTGCCTGTAGTCCCAGCAACTCGGAAGGCTGAGGGAGAAGGATCACTTGAGCCCAGGAGGTCGAGGCTGTAGTGAGCCCATCTCAAAAATAATCATAATTGGTAGATTTTTTCCCCCTCCCCAAAAAAAGTAGTCAATTTTGATTGAGCACTTATGATGGAGGCATTTTTTTTTTTTTTTATTGAGATGGAGTCTCGTTCTGTCACCCAGGCTGGAGTGCAGTGTTGCAATCTCAGCTCACTGCAACCTCTGCCTCCTTGGGTTCAAGCGATTCTCCAGCTTCAGCCTCTCAAGTAGCTGGGGATTACAGGCATGTGCCACCATGCCTGTCTAATTTTTTGTATTTCGTAGAGATGATGTTTCACCATGTTAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACGCCTGGCCTGATTTCTAGTTTCTCTTGGAAATTTAGTAGATCTGATCCCATGGTCCACTGGCACATCTGGCAAGAGTCAGCTGACTGTAAAGCAAGCGCTCTGCCTTTTGCCTGCACCTGGGCCGTGTCACTTGTTTTTGTCACCTCCCAACCCCTGGAAGCATTTGTGTTTGTGAACCCTGCTTTAAAGAGCTGCTTCTAGACCGGACGCAGTGGCTTACGCTTGTCATTCCAGCACTTTGGGAGGCTGAAGTGGGCTGATCACTTGAGGTCAGGAGTTTGAGAGCAGCCTGGCCAACGTGGTGAAATCCCATCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTGGTGTACTTGTAATCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCATAAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATCGCGCTACTGCACTCCAGCCTACGTGACAGTG | benign | 294,561 |
Benign or pathogenic: chromosome 19, position 6696629, gene C3 (complement C3) variant? Disease(s) if pathogenic? | pathogenic; ['Age_related_macular_degeneration_9', 'Atypical_hemolytic-uremic_syndrome_with_C3_anomaly', 'Complement_component_3_deficiency'] | GCTTCAGCCGTTCCGCGTCGACGGCATCCTCTGTCATCTGGGCCACTGGGGTCCCTGCAGCAGGTGGGAAGAGGACGTTGCTCAAGCCAGGTGGGTGACCCACCTTGGGGTGGCGTGAAAAGGGTTCCAGCCTCCCAACCAGCCAGGGCCAAGGGGTTAGGGACAGGCGAGGACTGGGGAGGATGTGACTGCGGGGAGGGGAGGCTGCATGGCTGAGTGGCTGTTCGGGGGTCTGCACTGTTAGGAGTGGGAGGTGCTTCACAGGGGCACCCTGGTCCTTGGGTCTCATTTCACCAGCAGTAAAATAATTCCAGTAACAATATTCAGGAATACTTATATCACGCTTAATGTTACTTTCCAGACTGTTCTAAGAGAATACCATAGAGTGTCTCACTTAATAGTCAACGAGGCTGGGCGCCGTGGCTGAAGCCTGTAATCTCAGCACTTTGGGAGGCTGGGGTGGGTGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGACCAATATGGTGAAACACCGTCTCTACTAAAAATACAAAAATTAGTGGGCATGGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCACAAGAATCACTTGAACCCGGGAGGCTGGGGTTGCAGTGAGCCGAGATCACGCCACTGCACTCTAGCCTGGCGACAGAGTGAGACTCCGCCTCAAAAAAAAAAAAAAAATCATCACACCAACCCTTGGAGGTAGATACTATTATTCTACCCCTACCAAAGGTGAAAAAACCAAGGCTCTTGCCCCAAAGCCTTATAGCTTACAGGTTGCAAGTCCCTTTCTTTCTCCAGTCTTCCCTCCTGGGGCAAGAAATGACCTCCAGAATTTCTGCTCTTGTACTATGTTGCTTGTCTTTTTGTTTGTTTGTTTGTTTGTTTTTGTTTGAGACAAAGTCTTGCTCTGCCGCCCAGGCTGGAGTGCAGTGGCCTGATCTCGGCTTACTGCAACCTACGCCTCCCACGTTCAATCGATTATCCTGCTTCAGCCTCCCGAGTGGCTGGGATTACAGGCATGTGCCACCACGCCCAGCTAACTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTACCTCAGGTGGTCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCTATTGAGTCTCATTTAAGCTGGTTTCCCATCTAAGAAGCACAGAAGGTCTAGAAAAATTAAAATAAACTGATGTATCAGCGAAAGCTCTTTGCTGAACTAAATGCTATCTGGAGGCTTCTATAAAACCGATCATAGCAAATAATATCTGTATGGTTAAAAAAATTTTTAGGCCGGGCATAATGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCTGTCTCTACTAAAAATACAAAAAAATTAGCCGGGCGTGGTGGCGGGTGGCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGCGAGCTGAGGTCGCGCCACTGCACTCCAGCCTGGGTGACAGAGCCAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAATGTAAAAGAGGGAAAACAGATCACAGATGGGCTGTTCTAGCTGAAGGGGAAGAGAAAGGTGCGGGTTAAACACCTCCAGAATGAGATGGAATTTGGCTCCATCCATGCCCTCCTGGGACCCATGGGGTCGGGGTCAAGGGTGTCTCACCTTGCAGGAGAATTCTGGTCTCAGACTCGGTGTCCGGGACTTGGTCACTGAGGTCTGCAGGTGGGATGTCCTCTTTCTGCACTCCTTCTGCAGGGTGAGTGAGAGATACCGATGGCTCTAGCTCCCTCCCGCCCTATCCTACCTCACTAAACCCAGGTCATTTACCCCCCTTACCCTGCCAGCCCCTCAGCCCCTCCCCCTGCAGCCGACTCACCACGGCCCAGGCGTTCTGGATCCAGGGTGCGAACAGCCACAGTTTTGTTCATTCTGATTCCTTCCGGCTACGCAGTGTTAGAGGTGGGGGGAGTCGTTGGATGAATAAAAGAACAGACAGACACACAGATGGTCAGCAGGGCACTGTCCTTAGGATCACCCTAGCATTGCCGGGCGCGGTGGCTCGTGCCTGTGATCCTAGCACTTTGGGAGGCCGAGGTGGGTGGATCACGAGGTCAGAAGATCGAGACCATCCTGGCTAACACAGTGAAACCCTGTCTCTACTAAAAATACAAAAAAATTAGCCGGGCGTGGTGGCTGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGGATGGCGTGAACCCGGGAGGCGGATATTGCAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGGGAACAGAGTGAGACTCTGTCTCAAAAAAATAAACAAACAAATAAATAAATAAATAAAAAATTTCAAATCGAGTATAAAAAAATTATTGATTGGTGATGGTCGACGAGGTTTTTGGCACCACCTAAAATTCTAAGCCTGGGGTCATCTCACTCACTTTACCCCAATCCTGGCTCTGCTTCTGAAATTCTGGGACTTCCAAATTTCCTAAGCTGGACACTATGATTCTTAGTGTCTCAGAGCCTGGATCTCCAACCTGAGTCAATAGTACGAAGACCAGGAGCCCTCTCTGAAGGACAAGGGTTTGTGGGTGCCCCAAGCACTCACCACGACCTTCAGGGACTTCCTGACACCGTCACTGATGAAATGATGGTAGACAGCAGCCTTGACTTCCACTTCCTGCAGGCCGGTCTTTAGCGGCACGATGACATATGGAACGGACAACGAGGACTTGGGGGGGATGGTTACGGTCTGCTGGTGACGCCTCTTGGTGGTGGCCAGGCTGCAGAAGGCTGGATTGTGGAGTAGTTCCACCCTCACCTGCCAGGGAGAGAAAGGATCCGGGCAAGTGTGTGTGCAACAGGCTACCTACCCCCTGGCAGCCTCCAAGAAGCCTCTGCCACCCCGGGACCCACCTTGAGCTCTTGGTTCTGCCGGTAATTGTAGAGAACGGCTCGGATTTCCACCTGCTCGTTTCGAACAACAGAGTAGGGTAGCCGCAGGTCGATGAAGAAGTCCTGCATTACTGTGACCTCGAAGGGGTCTGCCACACAGATCCCTGCTCGGGCAGAGACAGAACACGGAGTGTCAAGGTCGGGGAGTGGACAAGGCCAGGCTCCTGGGTCTCAGCTCTTAGTCCACTCCGCAGGAGCTCTCCCTAACTCAGCCTGTCTTTGCTGAAGCCTGTGAACTAAACGCTGTCAATGGCGACAAATGACAGATGATGATGGTGGTGGCTGGGAGTTACCATTATTTATTATTATTATTATTATTATTATTATTATTATTATTAATTATTTGAGACAGAGCAAGACTCTGTCGCCAGGCTGGAGTGCAGTGGCGCCATCTCGGCTCAACGCAACCTCCGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCTCGAGTAGCTGGGACTGCAGGCACGCACCACCATGTCCAGCTAATTTTTGTATATTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCTTGACCTCACGATCCACCCGCCTCAGCCTCCCAAGTGCTGAGATTACAGGCGTGAGCCACTGCGCCTGGCCGGAGTTACCACTATTTAATGATTTACATTCTGTTTGTAGTTTGACTCAGAGATCTACGTGTAGGGAGGAAGAGAAATCTCCAAAATATATCTGCTTGTCTGATATGGTAGCCCCAAGCTGTGGGGGAGCGCTGAGCACTTGAAATGGGGTTTGCCTGAGTGAGAAACTGGATTTGTACTTTTATTTGATGTACTTGTATTTAAATGTATTTAATTTAATTCAGACTTAAACTTTAAACCTGATGATCTAGCTAGGTGCGGTGGCTCATGCCTGTAATCACAGCACTTTGGGAGGCTGAGGCAGGAGGATTGCTTGAGCCCAGGAGTTCAAGGCTGCAGTGAGCTATGATCGCACCACTGTGCT | GCTTCAGCCGTTCCGCGTCGACGGCATCCTCTGTCATCTGGGCCACTGGGGTCCCTGCAGCAGGTGGGAAGAGGACGTTGCTCAAGCCAGGTGGGTGACCCACCTTGGGGTGGCGTGAAAAGGGTTCCAGCCTCCCAACCAGCCAGGGCCAAGGGGTTAGGGACAGGCGAGGACTGGGGAGGATGTGACTGCGGGGAGGGGAGGCTGCATGGCTGAGTGGCTGTTCGGGGGTCTGCACTGTTAGGAGTGGGAGGTGCTTCACAGGGGCACCCTGGTCCTTGGGTCTCATTTCACCAGCAGTAAAATAATTCCAGTAACAATATTCAGGAATACTTATATCACGCTTAATGTTACTTTCCAGACTGTTCTAAGAGAATACCATAGAGTGTCTCACTTAATAGTCAACGAGGCTGGGCGCCGTGGCTGAAGCCTGTAATCTCAGCACTTTGGGAGGCTGGGGTGGGTGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGACCAATATGGTGAAACACCGTCTCTACTAAAAATACAAAAATTAGTGGGCATGGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCACAAGAATCACTTGAACCCGGGAGGCTGGGGTTGCAGTGAGCCGAGATCACGCCACTGCACTCTAGCCTGGCGACAGAGTGAGACTCCGCCTCAAAAAAAAAAAAAAAATCATCACACCAACCCTTGGAGGTAGATACTATTATTCTACCCCTACCAAAGGTGAAAAAACCAAGGCTCTTGCCCCAAAGCCTTATAGCTTACAGGTTGCAAGTCCCTTTCTTTCTCCAGTCTTCCCTCCTGGGGCAAGAAATGACCTCCAGAATTTCTGCTCTTGTACTATGTTGCTTGTCTTTTTGTTTGTTTGTTTGTTTGTTTTTGTTTGAGACAAAGTCTTGCTCTGCCGCCCAGGCTGGAGTGCAGTGGCCTGATCTCGGCTTACTGCAACCTACGCCTCCCACGTTCAATCGATTATCCTGCTTCAGCCTCCCGAGTGGCTGGGATTACAGGCATGTGCCACCACGCCCAGCTAACTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTACCTCAGGTGGTCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCTATTGAGTCTCATTTAAGCTGGTTTCCCATCTAAGAAGCACAGAAGGTCTAGAAAAATTAAAATAAACTGATGTATCAGCGAAAGCTCTTTGCTGAACTAAATGCTATCTGGAGGCTTCTATAAAACCGATCATAGCAAATAATATCTGTATGGTTAAAAAAATTTTTAGGCCGGGCATAATGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCTGTCTCTACTAAAAATACAAAAAAATTAGCCGGGCGTGGTGGCGGGTGGCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGCGAGCTGAGGTCGCGCCACTGCACTCCAGCCTGGGTGACAGAGCCAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAATGTAAAAGAGGGAAAACAGATCACAGATGGGCTGTTCTAGCTGAAGGGGAAGAGAAAGGTGCGGGTTAAACACCTCCAGAATGAGATGGAATTTGGCTCCATCCATGCCCTCCTGGGACCCATGGGGTCGGGGTCAAGGGTGTCTCACCTTGCAGGAGAATTCTGGTCTCAGACTCGGTGTCCGGGACTTGGTCACTGAGGTCTGCAGGTGGGATGTCCTCTTTCTGCACTCCTTCTGCAGGGTGAGTGAGAGATACCGATGGCTCTAGCTCCCTCCCGCCCTATCCTACCTCACTAAACCCAGGTCATTTACCCCCCTTACCCTGCCAGCCCCTCAGCCCCTCCCCCTGCAGCCGACTCACCACGGCCCAGGCGTTCTGGATCCAGGGTGCGAACAGCCAGTTTTGTTCATTCTGATTCCTTCCGGCTACGCAGTGTTAGAGGTGGGGGGAGTCGTTGGATGAATAAAAGAACAGACAGACACACAGATGGTCAGCAGGGCACTGTCCTTAGGATCACCCTAGCATTGCCGGGCGCGGTGGCTCGTGCCTGTGATCCTAGCACTTTGGGAGGCCGAGGTGGGTGGATCACGAGGTCAGAAGATCGAGACCATCCTGGCTAACACAGTGAAACCCTGTCTCTACTAAAAATACAAAAAAATTAGCCGGGCGTGGTGGCTGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGGATGGCGTGAACCCGGGAGGCGGATATTGCAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGGGAACAGAGTGAGACTCTGTCTCAAAAAAATAAACAAACAAATAAATAAATAAATAAAAAATTTCAAATCGAGTATAAAAAAATTATTGATTGGTGATGGTCGACGAGGTTTTTGGCACCACCTAAAATTCTAAGCCTGGGGTCATCTCACTCACTTTACCCCAATCCTGGCTCTGCTTCTGAAATTCTGGGACTTCCAAATTTCCTAAGCTGGACACTATGATTCTTAGTGTCTCAGAGCCTGGATCTCCAACCTGAGTCAATAGTACGAAGACCAGGAGCCCTCTCTGAAGGACAAGGGTTTGTGGGTGCCCCAAGCACTCACCACGACCTTCAGGGACTTCCTGACACCGTCACTGATGAAATGATGGTAGACAGCAGCCTTGACTTCCACTTCCTGCAGGCCGGTCTTTAGCGGCACGATGACATATGGAACGGACAACGAGGACTTGGGGGGGATGGTTACGGTCTGCTGGTGACGCCTCTTGGTGGTGGCCAGGCTGCAGAAGGCTGGATTGTGGAGTAGTTCCACCCTCACCTGCCAGGGAGAGAAAGGATCCGGGCAAGTGTGTGTGCAACAGGCTACCTACCCCCTGGCAGCCTCCAAGAAGCCTCTGCCACCCCGGGACCCACCTTGAGCTCTTGGTTCTGCCGGTAATTGTAGAGAACGGCTCGGATTTCCACCTGCTCGTTTCGAACAACAGAGTAGGGTAGCCGCAGGTCGATGAAGAAGTCCTGCATTACTGTGACCTCGAAGGGGTCTGCCACACAGATCCCTGCTCGGGCAGAGACAGAACACGGAGTGTCAAGGTCGGGGAGTGGACAAGGCCAGGCTCCTGGGTCTCAGCTCTTAGTCCACTCCGCAGGAGCTCTCCCTAACTCAGCCTGTCTTTGCTGAAGCCTGTGAACTAAACGCTGTCAATGGCGACAAATGACAGATGATGATGGTGGTGGCTGGGAGTTACCATTATTTATTATTATTATTATTATTATTATTATTATTATTATTAATTATTTGAGACAGAGCAAGACTCTGTCGCCAGGCTGGAGTGCAGTGGCGCCATCTCGGCTCAACGCAACCTCCGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCTCGAGTAGCTGGGACTGCAGGCACGCACCACCATGTCCAGCTAATTTTTGTATATTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCTTGACCTCACGATCCACCCGCCTCAGCCTCCCAAGTGCTGAGATTACAGGCGTGAGCCACTGCGCCTGGCCGGAGTTACCACTATTTAATGATTTACATTCTGTTTGTAGTTTGACTCAGAGATCTACGTGTAGGGAGGAAGAGAAATCTCCAAAATATATCTGCTTGTCTGATATGGTAGCCCCAAGCTGTGGGGGAGCGCTGAGCACTTGAAATGGGGTTTGCCTGAGTGAGAAACTGGATTTGTACTTTTATTTGATGTACTTGTATTTAAATGTATTTAATTTAATTCAGACTTAAACTTTAAACCTGATGATCTAGCTAGGTGCGGTGGCTCATGCCTGTAATCACAGCACTTTGGGAGGCTGAGGCAGGAGGATTGCTTGAGCCCAGGAGTTCAAGGCTGCAGTGAGCTATGATCGCACCACTGTGCTNN | pathogenic | 294,734 |
Located at chromosome 19 position 6707285, the variant affecting gene C3 (complement C3)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | benign | TGTCTAATTTTCCCAGTGACCCTCACACTATCGCCTCTTTGTGAAGGAGATCATTCTAAATTTGCTTGAATTTTTTCTTTTCATTTTCTTTTCTTTTCTCTCTCTTTTTTTTTTTTTCTTTTTTGAGACAGGGTCTTGCTCTGTTGCCCAGGCTGGAGTGCGGTGGTGTGATTTTGGCTCATTGACGCCTCCATCTCCTGGGTTCAAACGATCCTCCCACCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGTGCACCCCCACACCCGGCTAATTATTTTATTTTATTTTTGTAGATATGGGGTTCTGCCATGTTGCCCAGGCTGGTCTCAAATTTCTGGACTCAAGCAATCCACCCTTCTCGGCCTCGCAAAGTGTGGGCATTACAGGTGTGAGCCACCGTGCCCGGCCAATTTTCTTTTTCCTTTCTTTTTTTGTTTTGTTTTGTTTTGTTTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTAAACCTACCAGGTTCAAGCGATTCTCCCACCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCTGCCAGCTCGCCAGGCTATTTTTGCATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGACTAGTCTTGAACTCCTGACCTCAAGTGATCCATCCACCTCGGCCTCCCAAAGTGCTGCGATTGCCGGTGTGAGCCACCATGCCCGGCCAATTTTCTCTTATTATAAGATAAATTTCTCTTTGTTTCACTTAAGACTTATTTCACGTGAGATCTAAAGTCTCACCTGATTCAAAAACTGAATGCATGCATGAATGAAGAAGGGCTGCCTGTTCACTCATCGAGTTTGGCAGGTCTTTCTGGAATGCCACACAAATTAGTTTTCTCTGGTGAAGCCAAACTTGGAACTCACCTTAGCTTTCCCATTGGTAATTAGTGTGTGACCAGCCCCATCATCTTTCTAGACTTTTCCCTCAGACCTCCAATGTCCTGGGCACTGGTGATGTCCAATTCAGACTGATGGGTGGGGCTGGGATGACCTTCCCAGGCAGGAAACTGCTCTGCCTTCAGGCAAGGGCCCTTCTCCCCATCAGACTAGGCCCTTCTCCTCCCTCAGGCCTGGGCCTCCTGGCTCCTCATCTGAAGGCCTCTGTCCCTTCCAGACAGGAGTGTCCCCTCCCCTCGGACGGGAGCCTCCTCCATCTCAGATGGGCATCTACGCTTCTCTGACTTGATCCTCCCCTCTTCAGACCTGGGTCTTCTCTACCTCACGCTGGCAGGGCATCACCTCATCGGCATCACCCTCAGACAGGGGCCTCCTCTCCCAACAGACAGAGGCCTCCTCCTACCCTCTCAGACAGCGGCATCCTCCCCCCTCAGACAGAGGCCTCCTCCCTCCTCAGACAGGGGACTCCTCCCCCCGAGACAGAGGCCTCCTCCTACCCCCTCAGACAGGGGCATCCTCCCCCCTCAGACAGAGGCCTCCTCCCCCCTCAGACAGGTACCTCCTCTCTCCTCAGACAGAGGCCTCCTCCCTCCTCAGACGGGGACCTCCTCCCCCCTCAAGGCCTCCTCCCTCCTCAGACAGGGACCTCCTCCCTCCTCAGACGGAGGTTTCCTCCCTCCTCAGACAGGGGCCTCCTCCCCCCTGAGACAGGGACCTCCTGCCCCCTCAGACAGGGGCCTCCTCCCCCCTCAGACAGCGGCCTCCTCCAGCCCCACCCCCACCAGACAGGGCATCCTCCCTCCTCAGACAGGAGTCTCCTCCCCCATCAGACGGCCCCCTCCCCCTGTCCCCACCCCGTGGGACCTACTCCTGGCCAGGCCCAGGTGGCTGGCCCGCGCGTGCTGCCGCCGCAGCTCTGTGATGTAGTTGCAGCAGTCCAGGAAGACCTTCTTGCACGCCTCGCCCAGGGAGATGAAACGGGTCCGGCGCTGGCACGAGAACCTCATGGGGTTCTCCCGCATGCCGTCCTCGCAGCACTTGCGCAGCTCCTTGGGGTACTTGCCGACTGCGGGAGCACGTGTTCCCCCAGGCCACACCCTCAGCCGGGGGCCGGCAGCAGGAGGGACGCGGGACGGACCCCAGGGAGGACTTCCCCGCCGCCAGGGCCTCCCCTCCTCCCTCTCTGGCTCCTGCACGGCCGGGCTGGGGTCTCCTGGGGTGGGGCTCGGGGGCAGGAGTGGGTAGGAAAGGCTCCCACCTTTGTCCATTCGCTTCTCCGTGAGCTGCACGGAACGGCGTCGGCGGGCGGCTGGCTGCGGGCACTGAAGTTCTGCAGGGCAGGCGGACCGAGAAGAAGATGGATGAGGCACCTACTAGGTGTCCTCGGTTCACCCCTCACGATCGTGTGAGGTGGGGGTGTTCCTGCTCCCATTTGATGGAAGAGCAAACTGAGGCTCAGAGGGGAGGGATTTACTAGGTGGTGGTGGAGGCGGGGCTTGAACCCAGGCCCCCGGTTTCCAGAGCTCTGCTCCCAGCATCTGGGAGGTGGAGGTGCTGTCTGTCCCTGCACCGGCCCCTGGTGGCGACCTCACCTGCCCTCTGGGCGGTCTGCTGGCCACTGCTGCTCGTGAAGGTCAGCCCTGCGTCGGAGAAGACACCGGCGTAATCCTTCCCACTGCCCGGGGTGCAGCCGATGTCTGCCTTCTCCACCACGTCCCAGATCTGCGGGGGGCATAGGGGTGGCGGGACGCAGGGAGGCCAGGCTGACAATTGGGATCCCCCACATATGCACCTGTGTATCTCTTCCCAAATGACCCCACCCTGTCCCACTCTCATCTCCCCCATTCCTGCTTCTGCCCTTCCTTTCTCTTTCTCTTTCCTTCCTTCCTTCTCTCTCCTTCCTTCTCTTTTTCTTTCTCTTTCTCACTCTCTCTCTTTCTTTCTTTCGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGTGATCTCCGCTCACTGTAACCTCCAACTCCCAGGTTCAGGCAATTTTCCTGCCTCAGCCTCCCGAGTATCTGGGACTACAGGTGCATGCCACCATGCCCAGCTAATTTTTATATATTTAGTAGAGACGGGATTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTGAAATGATTCGCCTGTCTTGGCCTCCCAAAGTGCTTGGCCTCCCAAAGGGATTACAGGAGTGAGCCACCATGCCCGGCCTTCTTTTTCTTTTCTTTCTGTCTTCTTTCTTTCCCTTCCTTCCTCTCCCTCCCTTCCTCCCTCCATTCCTCCTTTCCTCCTTCCTTTGCTCCCCCTTTCCTTCCCTCCTTCCCTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCATTCTTCACTCCCTCCCTCCCTTCCTCTTTATCTCCTTTCTTTTTCTTTCTCTCTGTTTCTCTCTCTCTTCTTTTTTTTTCCTCCTTTCTTTCCATTCTTTTTTTTTTTTTTTAAGTTGGGATTTTCCACTGTCTCCCAGGCTGGAGTGCAGTGGTGCAGGCATAGCTCACTGCAGCCTCAAATTCCTGGGCTCAAGCAATCCTCGCACCTCTGCCTCCTGAGCAGATGGGACTACAGGCATGCGCCATCATGCCCAGCTATTTTAAAATTTTTTCTGTAGAGATGGGGTCTTGCCATGTTGCCCAAGCTGGTCTGAACTCCTGGCCTCAAGTGATCCTCCCACCTTGACCTCCCAAAGTGCTGGGATTCCAGACGTGAGCCACCGCACCTGGCCTCCATTCCAAATCTTATCTCCATTTCCCCTCTGATTCCATCTGCATTCCCATCCTCACTCCTGATCCCAAGCCAACCCCATCTCCATCTTCGTCCCTACTCCGGAAACCTTCCCCACTGAATGACCCTGGGTGTGCTGCCACCAGCCTCTCAGGGCCCCAGTTGAAAGTGTCCAATTCTCAGCCGGGCGCAGTGGCTCACGCCTGTAATCCCAACACTTTGGGAGGTCGAGGCGGGTGGATCACAAGGCCAAGAGATCGAGACCATCCTGGCCAACATGGTGAAACCCCCGTCTTCACTAAAAATACAAAAATTAGCTGGGCGTGGTGATGGGCACCTGTAGTCCC | TGTCTAATTTTCCCAGTGACCCTCACACTATCGCCTCTTTGTGAAGGAGATCATTCTAAATTTGCTTGAATTTTTTCTTTTCATTTTCTTTTCTTTTCTCTCTCTTTTTTTTTTTTTCTTTTTTGAGACAGGGTCTTGCTCTGTTGCCCAGGCTGGAGTGCGGTGGTGTGATTTTGGCTCATTGACGCCTCCATCTCCTGGGTTCAAACGATCCTCCCACCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGTGCACCCCCACACCCGGCTAATTATTTTATTTTATTTTTGTAGATATGGGGTTCTGCCATGTTGCCCAGGCTGGTCTCAAATTTCTGGACTCAAGCAATCCACCCTTCTCGGCCTCGCAAAGTGTGGGCATTACAGGTGTGAGCCACCGTGCCCGGCCAATTTTCTTTTTCCTTTCTTTTTTTGTTTTGTTTTGTTTTGTTTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTAAACCTACCAGGTTCAAGCGATTCTCCCACCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCTGCCAGCTCGCCAGGCTATTTTTGCATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGACTAGTCTTGAACTCCTGACCTCAAGTGATCCATCCACCTCGGCCTCCCAAAGTGCTGCGATTGCCGGTGTGAGCCACCATGCCCGGCCAATTTTCTCTTATTATAAGATAAATTTCTCTTTGTTTCACTTAAGACTTATTTCACGTGAGATCTAAAGTCTCACCTGATTCAAAAACTGAATGCATGCATGAATGAAGAAGGGCTGCCTGTTCACTCATCGAGTTTGGCAGGTCTTTCTGGAATGCCACACAAATTAGTTTTCTCTGGTGAAGCCAAACTTGGAACTCACCTTAGCTTTCCCATTGGTAATTAGTGTGTGACCAGCCCCATCATCTTTCTAGACTTTTCCCTCAGACCTCCAATGTCCTGGGCACTGGTGATGTCCAATTCAGACTGATGGGTGGGGCTGGGATGACCTTCCCAGGCAGGAAACTGCTCTGCCTTCAGGCAAGGGCCCTTCTCCCCATCAGACTAGGCCCTTCTCCTCCCTCAGGCCTGGGCCTCCTGGCTCCTCATCTGAAGGCCTCTGTCCCTTCCAGACAGGAGTGTCCCCTCCCCTCGGACGGGAGCCTCCTCCATCTCAGATGGGCATCTACGCTTCTCTGACTTGATCCTCCCCTCTTCAGACCTGGGTCTTCTCTACCTCACGCTGGCAGGGCATCACCTCATCGGCATCACCCTCAGACAGGGGCCTCCTCTCCCAACAGACAGAGGCCTCCTCCTACCCTCTCAGACAGCGGCATCCTCCCCCCTCAGACAGAGGCCTCCTCCCTCCTCAGACAGGGGACTCCTCCCCCCGAGACAGAGGCCTCCTCCTACCCCCTCAGACAGGGGCATCCTCCCCCCTCAGACAGAGGCCTCCTCCCCCCTCAGACAGGTACCTCCTCTCTCCTCAGACAGAGGCCTCCTCCCTCCTCAGACGGGGACCTCCTCCCCCCTCAAGGCCTCCTCCCTCCTCAGACAGGGACCTCCTCCCTCCTCAGACGGAGGTTTCCTCCCTCCTCAGACAGGGGCCTCCTCCCCCCTGAGACAGGGACCTCCTGCCCCCTCAGACAGGGGCCTCCTCCCCCCTCAGACAGCGGCCTCCTCCAGCCCCACCCCCACCAGACAGGGCATCCTCCCTCCTCAGACAGGAGTCTCCTCCCCCATCAGACGGCCCCCTCCCCCTGTCCCCACCCCGTGGGACCTACTCCTGGCCAGGCCCAGGTGGCTGGCCCGCGCGTGCTGCCGCCGCAGCTCTGTGATGTAGTTGCAGCAGTCCAGGAAGACCTTCTTGCACGCCTCGCCCAGGGAGATGAAACGGGTCCGGCGCTGGCACGAGAACCTCATGGGGTTCTCCCGCATGCCGTCCTCGCAGCACTTGCGCAGCTCCTTGGGGTACTTGCCGACTGCGGGAGCACGTTCCCCCAGGCCACACCCTCAGCCGGGGGCCGGCAGCAGGAGGGACGCGGGACGGACCCCAGGGAGGACTTCCCCGCCGCCAGGGCCTCCCCTCCTCCCTCTCTGGCTCCTGCACGGCCGGGCTGGGGTCTCCTGGGGTGGGGCTCGGGGGCAGGAGTGGGTAGGAAAGGCTCCCACCTTTGTCCATTCGCTTCTCCGTGAGCTGCACGGAACGGCGTCGGCGGGCGGCTGGCTGCGGGCACTGAAGTTCTGCAGGGCAGGCGGACCGAGAAGAAGATGGATGAGGCACCTACTAGGTGTCCTCGGTTCACCCCTCACGATCGTGTGAGGTGGGGGTGTTCCTGCTCCCATTTGATGGAAGAGCAAACTGAGGCTCAGAGGGGAGGGATTTACTAGGTGGTGGTGGAGGCGGGGCTTGAACCCAGGCCCCCGGTTTCCAGAGCTCTGCTCCCAGCATCTGGGAGGTGGAGGTGCTGTCTGTCCCTGCACCGGCCCCTGGTGGCGACCTCACCTGCCCTCTGGGCGGTCTGCTGGCCACTGCTGCTCGTGAAGGTCAGCCCTGCGTCGGAGAAGACACCGGCGTAATCCTTCCCACTGCCCGGGGTGCAGCCGATGTCTGCCTTCTCCACCACGTCCCAGATCTGCGGGGGGCATAGGGGTGGCGGGACGCAGGGAGGCCAGGCTGACAATTGGGATCCCCCACATATGCACCTGTGTATCTCTTCCCAAATGACCCCACCCTGTCCCACTCTCATCTCCCCCATTCCTGCTTCTGCCCTTCCTTTCTCTTTCTCTTTCCTTCCTTCCTTCTCTCTCCTTCCTTCTCTTTTTCTTTCTCTTTCTCACTCTCTCTCTTTCTTTCTTTCGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGTGATCTCCGCTCACTGTAACCTCCAACTCCCAGGTTCAGGCAATTTTCCTGCCTCAGCCTCCCGAGTATCTGGGACTACAGGTGCATGCCACCATGCCCAGCTAATTTTTATATATTTAGTAGAGACGGGATTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTGAAATGATTCGCCTGTCTTGGCCTCCCAAAGTGCTTGGCCTCCCAAAGGGATTACAGGAGTGAGCCACCATGCCCGGCCTTCTTTTTCTTTTCTTTCTGTCTTCTTTCTTTCCCTTCCTTCCTCTCCCTCCCTTCCTCCCTCCATTCCTCCTTTCCTCCTTCCTTTGCTCCCCCTTTCCTTCCCTCCTTCCCTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCATTCTTCACTCCCTCCCTCCCTTCCTCTTTATCTCCTTTCTTTTTCTTTCTCTCTGTTTCTCTCTCTCTTCTTTTTTTTTCCTCCTTTCTTTCCATTCTTTTTTTTTTTTTTTAAGTTGGGATTTTCCACTGTCTCCCAGGCTGGAGTGCAGTGGTGCAGGCATAGCTCACTGCAGCCTCAAATTCCTGGGCTCAAGCAATCCTCGCACCTCTGCCTCCTGAGCAGATGGGACTACAGGCATGCGCCATCATGCCCAGCTATTTTAAAATTTTTTCTGTAGAGATGGGGTCTTGCCATGTTGCCCAAGCTGGTCTGAACTCCTGGCCTCAAGTGATCCTCCCACCTTGACCTCCCAAAGTGCTGGGATTCCAGACGTGAGCCACCGCACCTGGCCTCCATTCCAAATCTTATCTCCATTTCCCCTCTGATTCCATCTGCATTCCCATCCTCACTCCTGATCCCAAGCCAACCCCATCTCCATCTTCGTCCCTACTCCGGAAACCTTCCCCACTGAATGACCCTGGGTGTGCTGCCACCAGCCTCTCAGGGCCCCAGTTGAAAGTGTCCAATTCTCAGCCGGGCGCAGTGGCTCACGCCTGTAATCCCAACACTTTGGGAGGTCGAGGCGGGTGGATCACAAGGCCAAGAGATCGAGACCATCCTGGCCAACATGGTGAAACCCCCGTCTTCACTAAAAATACAAAAATTAGCTGGGCGTGGTGATGGGCACCTGTAGTCCCNN | benign | 294,768 |
Clinically, how would you classify the variant at chromosome 19, position 6710573, gene C3 (complement C3): benign or pathogenic? If pathogenic, specify the associated illness(es). | benign | CTCCTTCCTTTGCTCCCCCTTTCCTTCCCTCCTTCCCTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCATTCTTCACTCCCTCCCTCCCTTCCTCTTTATCTCCTTTCTTTTTCTTTCTCTCTGTTTCTCTCTCTCTTCTTTTTTTTTCCTCCTTTCTTTCCATTCTTTTTTTTTTTTTTTAAGTTGGGATTTTCCACTGTCTCCCAGGCTGGAGTGCAGTGGTGCAGGCATAGCTCACTGCAGCCTCAAATTCCTGGGCTCAAGCAATCCTCGCACCTCTGCCTCCTGAGCAGATGGGACTACAGGCATGCGCCATCATGCCCAGCTATTTTAAAATTTTTTCTGTAGAGATGGGGTCTTGCCATGTTGCCCAAGCTGGTCTGAACTCCTGGCCTCAAGTGATCCTCCCACCTTGACCTCCCAAAGTGCTGGGATTCCAGACGTGAGCCACCGCACCTGGCCTCCATTCCAAATCTTATCTCCATTTCCCCTCTGATTCCATCTGCATTCCCATCCTCACTCCTGATCCCAAGCCAACCCCATCTCCATCTTCGTCCCTACTCCGGAAACCTTCCCCACTGAATGACCCTGGGTGTGCTGCCACCAGCCTCTCAGGGCCCCAGTTGAAAGTGTCCAATTCTCAGCCGGGCGCAGTGGCTCACGCCTGTAATCCCAACACTTTGGGAGGTCGAGGCGGGTGGATCACAAGGCCAAGAGATCGAGACCATCCTGGCCAACATGGTGAAACCCCCGTCTTCACTAAAAATACAAAAATTAGCTGGGCGTGGTGATGGGCACCTGTAGTCCCAGCTACTAGGGAAGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCTGGTGACAGAGAGAGACTCTGTCTCAAAAACAAACAAACAAACAGAAAAAAAAGTCCAATTCTCAGGACCATCCCCAATTGGAACCCATGTCCAACCTCATTCCCATCTTCAGCTTCAACCATCCCTGTGTCTGGTCTGCTCCGATCTCTGCTTTCAGCGCATGCCCCCCACTGCACTGCCCTCTCCAGTCCCACCCACCTCCCCCAGCCCCAGCTCCGTGCCTCCGCCTCTTCTCAGCAGCCTTGGGTCACTGGCCCTTACCTTACTCTGCGTCAGTTTGTTCTTCTTATTCAGCACGAACACGCCCTTGTCCACGGCCACCAGTACCACCCGGGCCCCGTGGTCACCCTCTATCTTCAGGGTCATCTGCTGCCCAGGTACAGGCTGCCGGTCTTCTGACTGGCCGCTTTTTACCACCAGCTGTGGGGAGGGTGGAGACGCCGAAAGAAGTCAGCCCTGGGAGAGAGGAGTGCCTGGGATGGAGTGGGTGCTGGGCTAGAGTGGAAAGACAGAAAGGTTGGGGGGAGCCGTGGGGCTGGGGAGGGGGAGAGAGAGGGAGAGAGAGAGAAAGGGAGAGAGGGAGGGAGAGAGAGGGAGAGAGGGCGGGAGAGAGAGAGAAAGGGAGAGACAGGGAGAGAGACGGAGAGACAGGGAGAGAGGGAGAGAGACGGAGAGACAGAGAGAGGGAGAGTGAGGGGGGAGAGAGGGAAAGGGAAAGAGGGAGAGAAAGGGAGAGGGAGAGAGAGGGAAAGAGAGAGGGAGAGAGAGAGGGAAAGAGAGAAGGAGAGAAAGAGGGAGAGAGAAGGAGAGAGAGGGAGAGAGAGAAAGGGAGAGAGAGAGGGAGAGGGAAAGAGAGAGGGAGAGAAAGAGAGGGGAGAGAGAGGGAAAGGGAAAGAGACAGGGAGAGAGAAAAGGAGAGAGAGAGGGAGAGAGAAAAGGAGAGAGATGGAGAGAAAGAGAGATCGAGAGAGGGAGAGAGAGAAGGAAAGAGAAATAAAGAGAGAGGGAAAGAGAGATGTAGAGAGAGGGAAAGAGAGATAAAAAGAGAGACAGTTGAGAGACAGAGAGGGAGGAGAGAAAGGGAGAGGAAGAGAAGAGAGAGAAAGGAGAGAGAAAAGGAGAAAGGGAGAGAGAGAGAGAGAGGAGACAGGGAGAGAGAGAGAGAGAGAGGAGTAGGGAGAGGGAGAGGGGGCGAGCGAGCCCAGGGCACACTTACCGAGCCCACGCAGGAGTCCTTGACGTCCACCCACACGGAGTCGGCCACCACCTCCCTCTGGCCGCTGGCACCGATCAGCGTGTAGTACGCCACCAGGCGGAAGGAAGGGATGAAGTCGGTGGTGATGGACAGGGGCAGCACCACCAGGTCCTGGCCGGGCTCTCGCACCTGGCGTCCCGCCTTCAACAGCCTGCCCTTGTTCATGATCTGGGGGGACAGGCTGGCATCAGGCTGGGGAGGGTGAGTGGCAGGGAACGCAGGGAGGGATCCGGGATGGGGGAAGGAGTCCCAGGGGTGCGGAAGAAACAAGGAGGAGGCGGGGGCTGAGGTTTCCAGGTGGCCACGGACCAGGTAGGTGTAGTAGCGGATCTTGGCCTCGTGGGCGCGGTCCATTCGCAGGAGGAAGTTGACGTTGAGGGTCTCCCCGGGTCTGAGCTCTGTACGTAGCACTGAGAGATGCAGGTAATTGTTGGAGTTGCCCACGGTGCTGTAGGGCAGAGCCTGCATGGTCCTGGTAGCCTGCTCTGCCTCCGAGAGCTCCTGCTTCTTCGTGCGCACCTGGGTGGGGAAAGAGGGATGCCTGCTGGTCGCCGCCCGAGGATACCCACACCCGAATCCCTGAGACCTGGGAATTGGTGGCCTTTCTTAACAAAAGGGGCTTTGCAGATGGGATTAAGTTAGGGATCTGGAGATGGAATCATTATCCTGGATTATGTAGGTGGAGCTAATGTAATCATAAGGGTCTTTATTAAGCAGGGGCAGGGGAGAAAGGAGAGACAGAGACAGAGAGAAAGAGAGACACTGGAAGATGCTATGCTGCTGCCTTTAAAGGTGGAGGAAGGGGCCATGAGCCAGGCCTTTAGGGTGCCCTGGCGACACTGGAAAAAGCAAGGGAGCGAACTTTCCCCCAGAGCCAGGACTTCTGACCTCTCAAACTATAGACCCATAAATGTGTGTTGCTTTAGATCACTAGGCTGTGGCCATTTCTCATGGTAGCCACCGGAAATTCACGCACATGCTGAGCACAGGGAGGGGTAAGTGGGGTGCGCAGCCTGGGAGCTGCAGAGGGACTGGGAGGCCATCTGCAACCTCCGCAGCTGTCATGAGACTTGCTTCCCTCCCAGTGAGGGGCAACAGAGCCACGTGCACAGAAGCCAGGAGAACTGAGACCACCTCACAACAATGGGCCTGTCCCAAACACTACACAACCCTCCTTGTGAGATTCAGGCTCCTTCCCCCATGGGAGTGGAAAGACTGTGCGTGGATGGAGCGCCTCTCCGTGTAAGTGGAAGGAGCAGGGCATGCAAGAGGAAGATTCCTGTTTCCTCAAACTGCGGACCCCTCCATGCAGACGGCAGGACCCCACTGTGCAGGACAGAACCCCTCTAGGCAAATGAGAATGTCTATGCAAATGGCAGGACCCCACTGTGCAGGACAGAACCCCTCTATGCAGATGAGAGTATCTCTATGCAAATGGCAGGACCCCTCTGCGCAGGAGAGAACCTCTCTATGCAGATGAGAATATCTGTATGCAAATGACAGGACCCCACTGTGCAAACACCAGAACCCCTGTACCGTCTTCCCAGTGATGGGGTTCCGAGGCTGGGCCCAGACGCACCGTGATGCTCAAGGGCTTCTGGCTGGGGTGTGTGTTGATGCTGAGTTTGGCCACGCCATCTCCCTGGGTTAGAGACTGCACAGTGTCCTCGCCCTGGACTGCCACGGGGACTCGGTAGGCTGGAGAGCCATCAGGGTTCGTCACGAACACCTGTGATGTGGGGTGCAGGTGGGGGAAGTTCAGGCAGGCTCAGGGCTGTGGCCGGTGTCCCCGAAGGGAGGAGTGGGACCCCTTCCCGCCCCGGGTCTCACCATGAGGTCAAAGGGCATTCCTGGTTTGAAGTACTTGGGTGTCTTGGTGAAGTGGATCTGGTAGGGAGAGGTCACGATGGGGATCCCGCTGCGCTCTGCCTGCACCATGTCAC | CTCCTTCCTTTGCTCCCCCTTTCCTTCCCTCCTTCCCTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCATTCTTCACTCCCTCCCTCCCTTCCTCTTTATCTCCTTTCTTTTTCTTTCTCTCTGTTTCTCTCTCTCTTCTTTTTTTTTCCTCCTTTCTTTCCATTCTTTTTTTTTTTTTTTAAGTTGGGATTTTCCACTGTCTCCCAGGCTGGAGTGCAGTGGTGCAGGCATAGCTCACTGCAGCCTCAAATTCCTGGGCTCAAGCAATCCTCGCACCTCTGCCTCCTGAGCAGATGGGACTACAGGCATGCGCCATCATGCCCAGCTATTTTAAAATTTTTTCTGTAGAGATGGGGTCTTGCCATGTTGCCCAAGCTGGTCTGAACTCCTGGCCTCAAGTGATCCTCCCACCTTGACCTCCCAAAGTGCTGGGATTCCAGACGTGAGCCACCGCACCTGGCCTCCATTCCAAATCTTATCTCCATTTCCCCTCTGATTCCATCTGCATTCCCATCCTCACTCCTGATCCCAAGCCAACCCCATCTCCATCTTCGTCCCTACTCCGGAAACCTTCCCCACTGAATGACCCTGGGTGTGCTGCCACCAGCCTCTCAGGGCCCCAGTTGAAAGTGTCCAATTCTCAGCCGGGCGCAGTGGCTCACGCCTGTAATCCCAACACTTTGGGAGGTCGAGGCGGGTGGATCACAAGGCCAAGAGATCGAGACCATCCTGGCCAACATGGTGAAACCCCCGTCTTCACTAAAAATACAAAAATTAGCTGGGCGTGGTGATGGGCACCTGTAGTCCCAGCTACTAGGGAAGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCTGGTGACAGAGAGAGACTCTGTCTCAAAAACAAACAAACAAACAGAAAAAAAAGTCCAATTCTCAGGACCATCCCCAATTGGAACCCATGTCCAACCTCATTCCCATCTTCAGCTTCAACCATCCCTGTGTCTGGTCTGCTCCGATCTCTGCTTTCAGCGCATGCCCCCCACTGCACTGCCCTCTCCAGTCCCACCCACCTCCCCCAGCCCCAGCTCCGTGCCTCCGCCTCTTCTCAGCAGCCTTGGGTCACTGGCCCTTACCTTACTCTGCGTCAGTTTGTTCTTCTTATTCAGCACGAACACGCCCTTGTCCACGGCCACCAGTACCACCCGGGCCCCGTGGTCACCCTCTATCTTCAGGGTCATCTGCTGCCCAGGTACAGGCTGCCGGTCTTCTGACTGGCCGCTTTTTACCACCAGCTGTGGGGAGGGTGGAGACGCCGAAAGAAGTCAGCCCTGGGAGAGAGGAGTGCCTGGGATGGAGTGGGTGCTGGGCTAGAGTGGAAAGACAGAAAGGTTGGGGGGAGCCGTGGGGCTGGGGAGGGGGAGAGAGAGGGAGAGAGAGAGAAAGGGAGAGAGGGAGGGAGAGAGAGGGAGAGAGGGCGGGAGAGAGAGAGAAAGGGAGAGACAGGGAGAGAGACGGAGAGACAGGGAGAGAGGGAGAGAGACGGAGAGACAGAGAGAGGGAGAGTGAGGGGGGAGAGAGGGAAAGGGAAAGAGGGAGAGAAAGGGAGAGGGAGAGAGAGGGAAAGAGAGAGGGAGAGAGAGAGGGAAAGAGAGAAGGAGAGAAAGAGGGAGAGAGAAGGAGAGAGAGGGAGAGAGAGAAAGGGAGAGAGAGAGGGAGAGGGAAAGAGAGAGGGAGAGAAAGAGAGGGGAGAGAGAGGGAAAGGGAAAGAGACAGGGAGAGAGAAAAGGAGAGAGAGAGGGAGAGAGAAAAGGAGAGAGATGGAGAGAAAGAGAGATCGAGAGAGGGAGAGAGAGAAGGAAAGAGAAATAAAGAGAGAGGGAAAGAGAGATGTAGAGAGAGGGAAAGAGAGATAAAAAGAGAGACAGTTGAGAGACAGAGAGGGAGGAGAGAAAGGGAGAGGAAGAGAAGAGAGAGAAAGGAGAGAGAAAAGGAGAAAGGGAGAGAGAGAGAGAGAGGAGACAGGGAGAGAGAGAGAGAGAGGAGTAGGGAGAGGGAGAGGGGGCGAGCGAGCCCAGGGCACACTTACCGAGCCCACGCAGGAGTCCTTGACGTCCACCCACACGGAGTCGGCCACCACCTCCCTCTGGCCGCTGGCACCGATCAGCGTGTAGTACGCCACCAGGCGGAAGGAAGGGATGAAGTCGGTGGTGATGGACAGGGGCAGCACCACCAGGTCCTGGCCGGGCTCTCGCACCTGGCGTCCCGCCTTCAACAGCCTGCCCTTGTTCATGATCTGGGGGGACAGGCTGGCATCAGGCTGGGGAGGGTGAGTGGCAGGGAACGCAGGGAGGGATCCGGGATGGGGGAAGGAGTCCCAGGGGTGCGGAAGAAACAAGGAGGAGGCGGGGGCTGAGGTTTCCAGGTGGCCACGGACCAGGTAGGTGTAGTAGCGGATCTTGGCCTCGTGGGCGCGGTCCATTCGCAGGAGGAAGTTGACGTTGAGGGTCTCCCCGGGTCTGAGCTCTGTACGTAGCACTGAGAGATGCAGGTAATTGTTGGAGTTGCCCACGGTGCTGTAGGGCAGAGCCTGCATGGTCCTGGTAGCCTGCTCTGCCTCCGAGAGCTCCTGCTTCTTCGTGCGCACCTGGGTGGGGAAAGAGGGATGCCTGCTGGTCGCCGCCCGAGGATACCCACACCCGAATCCCTGAGACCTGGGAATTGGTGGCCTTTCTTAACAAAAGGGGCTTTGCAGATGGGATTAAGTTAGGGATCTGGAGATGGAATCATTATCCTGGATTATGTAGGTGGAGCTAATGTAATCATAAGGGTCTTTATTAAGCAGGGGCAGGGGAGAAAGGAGAGACAGAGACAGAGAGAAAGAGAGACACTGGAAGATGCTATGCTGCTGCCTTTAAAGGTGGAGGAAGGGGCCATGAGCCAGGCCTTTAGGGTGCCCTGGCGACACTGGAAAAAGCAAGGGAGCGAACTTTCCCCCAGAGCCAGGACTTCTGACCTCTCAAACTATAGACCCATAAATGTGTGTTGCTTTAGATCACTAGGCTGTGGCCATTTCTCATGGTAGCCACCGGAAATTCACGCACATGCTGAGCACAGGGAGGGGTAAGTGGGGTGCGCAGCCTGGGAGCTGCAGAGGGACTGGGAGGCCATCTGCAACCTCCGCAGCTGTCATGAGACTTGCTTCCCTCCCAGTGAGGGGCAACAGAGCCACGTGCACAGAAGCCAGGAGAACTGAGACCACCTCACAACAATGGGCCTGTCCCAAACACTACACAACCCTCCTTGTGAGATTCAGGCTCCTTCCCCCATGGGAGTGGAAAGACTGTGCGTGGATGGAGCGCCTCTCCGTGTAAGTGGAAGGAGCAGGGCATGCAAGAGGAAGATTCCTGTTTCCTCAAACTGCGGACCCCTCCATGCAGACGGCAGGACCCCACTGTGCAGGACAGAACCCCTCTAGGCAAATGAGAATGTCTATGCAAATGGCAGGACCCCACTGTGCAGGACAGAACCCCTCTATGCAGATGAGAGTATCTCTATGCAAATGGCAGGACCCCTCTGCGCAGGAGAGAACCTCTCTATGCAGATGAGAATATCTGTATGCAAATGACAGGACCCCACTGTGCAAACACCAGAACCCCTGTACCGTCTTCCCAGTGATGGGGTTCCGAGGCTGGGCCCAGACGCACCGTGATGCTCAAGGGCTTCTGGCTGGGGTGTGTGTTGATGCTGAGTTTGGCCACGCCATCTCCCTGGGTTAGAGACTGCACAGTGTCCTCGCCCTGGACTGCCACGGGGACTCGGTAGGCTGGAGAGCCATCAGGGTTCGTCACGAACACCTGTGATGTGGGGTGCAGGTGGGGGAAGTTCAGGCAGGCTCAGGGCTGTGGCCGGTGTCCCCGAAGGGAGGAGTGGGACCCCTTCCCGCCCCGGGTCTCACCATGAGGTCAAAGGGCATTCCTGGTTTGAAGTACTTGGGTGTCTTGGTGAAGTGGATCTGGTAGGGAGAGGTCACGATGGGGATCCCGCTGCGCTCTGCCTGCACCATGTCACNN | benign | 294,779 |
The chromosome 19, position 6718306 genetic variant in gene C3 (complement C3): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Age_related_macular_degeneration_9', 'Atypical_hemolytic-uremic_syndrome_with_C3_anomaly', 'Complement_component_3_deficiency'] | ACCCAGGCTGGAGTGCAGTGGTGCGATCACGGCTCACTGCAGCCTGGAATTCCTGGGCTCAAGTGATCCTCCTGCCTCAGCCTCCTGGGGTAGCTGCAACCACAAGCAAGCACCACCACACACAGCTGTTTTTTTGTTTGTTTTTAACTTTTCTTTTTTGTAGAGACAGGGTCTGGCTGTGTTGCCCAGGCTGGTCTTGGACTCTTGGGCTCAAGCGATCCTCCCGCCTTGGCCTCCCAAACAGCTGGGATTACAAGTGTGAGCCACTGCACCTAGCCTTGTATGATTTCAACACATCCTCATGATAATTCTATGAGAACACCCTCCTTCCCCTTCTCTCCTCCCATCCTTCTCGCTTCTTCCAGTAAGTTTTTTATTAAACCCAACTATATACCAGCATTGTGCTGAGTTCAGGTGACAAAACCCTCAACAAACATAACAATTCCTTCCTGGAGGGATTTAGGTTCAATAGAGGGCGAGGCGATGGGAGAAGCAATTATCAAATGAATAAATCTCATTTGCAGGACATGGCAGGAAGGAGGAGTGTGTGTAGCGGGGAGGGGGGACGCTCAGGGTGGGTATTTGCGACTTTATAGGTTACTCAGAGAGACCTCATTGTAAAATTGAGACATTGGTGACATTTGAGCAAAGACTTAAAGGAGGAGAGAGAACAAGCTGTGTGGATATTTGGAAGAAGAGGGTTTTCTTGAGAAGAGGGCACAGCCCGTGCCAAGGCGCCAAGGCAGGACTGCACCTGGGTGTTGGAGGAACAGGGAGGATGGCCCGTGTGGCTCCAGAAGAGTGAACGAGGGGGAGAGAGGGAGGAGGGGAGGGCAGGGAAGGGACAGGGCAAGGTGTGCAGGGCCTTGTGGACTGCAGGGAGGACTTGGGCTTTGACGCATAGGAAGGTGGGAGCCATGGAGGGCTGTAGGCAGAGCAGGGATGGGCCCTGACTCAGGTGCTCACAGGCGTCCTCTGGCTGCCGTCGGTAGAATAGATGACATACAATTATCCGTCATGATCCCGATATTCAGATAAGGTAACTGAGGCTCAGGGAGGTGAAGTGATCAGGGGTTTAACTGAAAGCAGAATCCACGGACACCTGCACTGCTCCCTGGGGTCTCCCTGGATCTCCACCTTGTCTCTCAGCCTGTGTGTGTGTGTGTGTGTGTGTGCGCGCCATATGGTGTATTGTGTGGTTGTGTGTTGGGTTGTGTGTTGTGTGTGCTATGTTTGTGTGCACTGTGTTGTGTGGTCGTGTATGTTGTGTGGTTGTGTGTTGTGTGGTTGTGTATGTTGTGTGTGTGTTGTGTTTTGTGTGTGTTGTGTGTGTTGTGTGTTGTGTGTGTTTGTGTGTGTTGTGTGATAGTGTTGTGTGGTTGTGTGTTGTGTGTGGTGTGGTTATGTATGTTGTGTTGTGTTGTGTGTGTTTTGTGTGTATTGCGTGGTTGTGTATGTTGTGTATTGTGTTGTGTGTGTTGTGTGTTGTGTGTGTGGTCATGCACGTTGTGCTGTGTGTATTGTGTTGTGTGTTGTGTTGTGTGTGTTGTGTGGTCGTGTATGTTGTGTGTTTGTGTGTGTTGCATTGTGTGTGTGCATTGTGTGTGCACATGTGTCTGCATATCTCTTTGCCTCTGTGTGTGTATTGTGTGCTGTGTGTGTGCATGTTGTGTGCTGTATGTGTGTGTGTTGTGTGGGTGTGTGTCTGCATATCTCTTTGCCTCTGTGTCTCTGCCACTGCACCCCTTCCGGTGTGTCTTTCTCTGTCTCTCTCGATCTCTTTGCCTCTCCTAAGCCTGTGCCCCTGCTTCCCCTGGGGCCCCCTCTGGCTGGCACCTCAATGTTGACCATGACCGTCCGGCCCACGGGTAGCAGCTTGTGGTTGACGGTGAAGATCCGATAGAGAACTGGGGAGAGACAAAGAGGCCTCGTGAGACCCTAGCCCGCCCACGCCGGTGCCCCGCCCTCTCCAGCCGCCCCCAGCCTCACCTGTGGAGCCAGGGGTGTAGATGGTCTTGTCTGTCTGGATGAAGAGGTACCCGCTCTGCAGGCTGACCAGCACCACCTTCTCCACCACTTGGGTCCCGAAGGTGGCCTGCACGGTCACGAACTTGTTGCGCCCCTTTTCTGACTTGAACTCCCTGTTGGCTGGGATCTAGGCGTGGGCAGGGCATTGTCAGGGGTCTGTTCCAAGGCCCCATGCCCACGGTCCAGCTTCCGGATCTTGGGCTGGGTCCCTCCTTGCCTGCCCATTATTCTTGGTCTTCCGAGGTGGCCGTTTTGGGGAGGGAGGGGCATGTGAAGGAGGTGCGAGGGGAGAGGGGGGACCAGGGAGGGAACTCAAAAAGAAGAGCTCACAAGGAGGAGAGAGCTTATAGGAGGAGGGGCTCAGAAGGGGCGGGGACTCAGAAAGGGAAGGGGCTGACATGGGAGGGGCTCAGAAAGGGGGAGGGACTCAGGTGAGGGAACTTAGAAAGTGATGGAGACTAAGAGGGGAGGAGTTCAGAAGAGGAGACTTCGAGGGGGAGGGGCTTGGAAAAGGAATTCAGTGGGAGGGACTTAGAGGGGGAGGAGACTCAGAAGGGGTGGAGTCTCAGAGAAGGGGAGGAACCTCAGAAGGGGTGGGGTCTCAGGGAAGGGAGGGACTCAGAAGGGGAGGAGTCTCAGAAGGGGTGGGGTCTCAGGGAAGGTCAGGGCTTAGAAGGGGAGGAGATTCAGAAGGGGTGGGGGGGGGTCTCAGAAAAGGGAGGGGCTTATAAGGGGAGGAGACTCAGAAGGGGTGGAGTCTCAGAGAAGGGAGGGGCTTAGAAGGAGAGGCGACTCCGAAGGGGTGGAGTCTCAGGGAAGGGCAGGGCTTAGAAAGGGAGAAGACAGAAGGGGAGGGGCTCAGGAGGAGGGGGGGAGTGGGCGTGGCTGTGGGTGTCAGCCGGGTCCTGCGCCAGTCTGCACTCACCGTGAAGGTGACGTTGCCCATGTGGTTGGTGGCAGGGGTCAGCACAGTCTTCTCACTGGACAGCACTAGTTTTTTGCCTGGGAAGTCGTGGACAGTAACAGTGACTGGAACATCCCCTTGCGCGTCGTGGGCCTCCAGCACCATGGTCTCCTCGCTCTCCAGCCGCAAGATGTTGGGGGTGATGATAGAGTACCTGTCGGAGTGGGGCACGGGAGTGGGCTTGTCATTCCACGGATGTGAGACGCCAGTCCTCACTGGAGTCAGCGCCTGGCAGGCTGTGTGCCCCAGCCTCTGGTCCTGGAGAGGATCCAGTGACTGCCGGCGCACTTGCCAATGCCATTATCTTCTCTGGGCACTGCCACCGTCTCAACCACATGGGCAGGACAGCAGCCACCATGACTCCCACTCTCAGCCAGCTGGGCCTGGCCTTTGAAAGCCTGGGCAACGAGGGGGCCACACATCCCACCAAACCCTGAACCTTCCAACCAGCGTCAGCAACTCCTCCAAGTCTCTGGACTTCCAGACCCACAATCGCCTAAACCCACACATGCCCCAAACCCTAAACCTCTACCTCTCTAAACACTCCAAATATGTAAACACTCAAACTCCCGGACACCCTCAACTCTACCTACCCAAACCCACATACGCCAAAACCTCTAAACCTCAAATCTTAGAGCACCCCAAACCCAGCCTAAACCTCCAACACCCCAGTCCTAATAAATACAATCAATTCCAAATGCCCCAACTATACATGAACCCGAAGTAGCCAATCTTTAAACCCACACTGAAAATTGCAAGTCCCCAAGCTGCAAACTCCCAAATCTTGTAAAGTCCAAACCTCCGAGTCTCCAAACACCCCCAACCGCACCATCAATGAACACCACATACACCCTAAACCAACAGATGACCTCAATTCTAGAAACATCCCAAACTCCAATTCCACCATACCTGGATTCCACAAACACCCAACCCATAAACACCCAAACTCTCAGGCAGCCCAAATGTATATAAACTCCAATTCCACGATACCTGGATTCCACAAACACCCAACCACAAACACCCAAACTCACAGGCAGCCCAAATGTATATAAACTCCAATTCCATGATACCTGGATTCCACAAACACCCAACCACAAACACCCA | ACCCAGGCTGGAGTGCAGTGGTGCGATCACGGCTCACTGCAGCCTGGAATTCCTGGGCTCAAGTGATCCTCCTGCCTCAGCCTCCTGGGGTAGCTGCAACCACAAGCAAGCACCACCACACACAGCTGTTTTTTTGTTTGTTTTTAACTTTTCTTTTTTGTAGAGACAGGGTCTGGCTGTGTTGCCCAGGCTGGTCTTGGACTCTTGGGCTCAAGCGATCCTCCCGCCTTGGCCTCCCAAACAGCTGGGATTACAAGTGTGAGCCACTGCACCTAGCCTTGTATGATTTCAACACATCCTCATGATAATTCTATGAGAACACCCTCCTTCCCCTTCTCTCCTCCCATCCTTCTCGCTTCTTCCAGTAAGTTTTTTATTAAACCCAACTATATACCAGCATTGTGCTGAGTTCAGGTGACAAAACCCTCAACAAACATAACAATTCCTTCCTGGAGGGATTTAGGTTCAATAGAGGGCGAGGCGATGGGAGAAGCAATTATCAAATGAATAAATCTCATTTGCAGGACATGGCAGGAAGGAGGAGTGTGTGTAGCGGGGAGGGGGGACGCTCAGGGTGGGTATTTGCGACTTTATAGGTTACTCAGAGAGACCTCATTGTAAAATTGAGACATTGGTGACATTTGAGCAAAGACTTAAAGGAGGAGAGAGAACAAGCTGTGTGGATATTTGGAAGAAGAGGGTTTTCTTGAGAAGAGGGCACAGCCCGTGCCAAGGCGCCAAGGCAGGACTGCACCTGGGTGTTGGAGGAACAGGGAGGATGGCCCGTGTGGCTCCAGAAGAGTGAACGAGGGGGAGAGAGGGAGGAGGGGAGGGCAGGGAAGGGACAGGGCAAGGTGTGCAGGGCCTTGTGGACTGCAGGGAGGACTTGGGCTTTGACGCATAGGAAGGTGGGAGCCATGGAGGGCTGTAGGCAGAGCAGGGATGGGCCCTGACTCAGGTGCTCACAGGCGTCCTCTGGCTGCCGTCGGTAGAATAGATGACATACAATTATCCGTCATGATCCCGATATTCAGATAAGGTAACTGAGGCTCAGGGAGGTGAAGTGATCAGGGGTTTAACTGAAAGCAGAATCCACGGACACCTGCACTGCTCCCTGGGGTCTCCCTGGATCTCCACCTTGTCTCTCAGCCTGTGTGTGTGTGTGTGTGTGTGTGCGCGCCATATGGTGTATTGTGTGGTTGTGTGTTGGGTTGTGTGTTGTGTGTGCTATGTTTGTGTGCACTGTGTTGTGTGGTCGTGTATGTTGTGTGGTTGTGTGTTGTGTGGTTGTGTATGTTGTGTGTGTGTTGTGTTTTGTGTGTGTTGTGTGTGTTGTGTGTTGTGTGTGTTTGTGTGTGTTGTGTGATAGTGTTGTGTGGTTGTGTGTTGTGTGTGGTGTGGTTATGTATGTTGTGTTGTGTTGTGTGTGTTTTGTGTGTATTGCGTGGTTGTGTATGTTGTGTATTGTGTTGTGTGTGTTGTGTGTTGTGTGTGTGGTCATGCACGTTGTGCTGTGTGTATTGTGTTGTGTGTTGTGTTGTGTGTGTTGTGTGGTCGTGTATGTTGTGTGTTTGTGTGTGTTGCATTGTGTGTGTGCATTGTGTGTGCACATGTGTCTGCATATCTCTTTGCCTCTGTGTGTGTATTGTGTGCTGTGTGTGTGCATGTTGTGTGCTGTATGTGTGTGTGTTGTGTGGGTGTGTGTCTGCATATCTCTTTGCCTCTGTGTCTCTGCCACTGCACCCCTTCCGGTGTGTCTTTCTCTGTCTCTCTCGATCTCTTTGCCTCTCCTAAGCCTGTGCCCCTGCTTCCCCTGGGGCCCCCTCTGGCTGGCACCTCAATGTTGACCATGACCGTCCGGCCCACGGGTAGCAGCTTGTGGTTGACGGTGAAGATCCGATAGAGAACTGGGGAGAGACAAAGAGGCCTCGTGAGACCCTAGCCCGCCCACGCCGGTGCCCCGCCCTCTCCAGCCGCCCCCAGCCTCACCTGTGGAGCCAGGGGTGTAGATGGTCTTGTCTGTCTGGATGAAGAGGTACCCGCTCTGCAGGGCTGACCAGCACCACCTTCTCCACCACTTGGGTCCCGAAGGTGGCCTGCACGGTCACGAACTTGTTGCGCCCCTTTTCTGACTTGAACTCCCTGTTGGCTGGGATCTAGGCGTGGGCAGGGCATTGTCAGGGGTCTGTTCCAAGGCCCCATGCCCACGGTCCAGCTTCCGGATCTTGGGCTGGGTCCCTCCTTGCCTGCCCATTATTCTTGGTCTTCCGAGGTGGCCGTTTTGGGGAGGGAGGGGCATGTGAAGGAGGTGCGAGGGGAGAGGGGGGACCAGGGAGGGAACTCAAAAAGAAGAGCTCACAAGGAGGAGAGAGCTTATAGGAGGAGGGGCTCAGAAGGGGCGGGGACTCAGAAAGGGAAGGGGCTGACATGGGAGGGGCTCAGAAAGGGGGAGGGACTCAGGTGAGGGAACTTAGAAAGTGATGGAGACTAAGAGGGGAGGAGTTCAGAAGAGGAGACTTCGAGGGGGAGGGGCTTGGAAAAGGAATTCAGTGGGAGGGACTTAGAGGGGGAGGAGACTCAGAAGGGGTGGAGTCTCAGAGAAGGGGAGGAACCTCAGAAGGGGTGGGGTCTCAGGGAAGGGAGGGACTCAGAAGGGGAGGAGTCTCAGAAGGGGTGGGGTCTCAGGGAAGGTCAGGGCTTAGAAGGGGAGGAGATTCAGAAGGGGTGGGGGGGGGTCTCAGAAAAGGGAGGGGCTTATAAGGGGAGGAGACTCAGAAGGGGTGGAGTCTCAGAGAAGGGAGGGGCTTAGAAGGAGAGGCGACTCCGAAGGGGTGGAGTCTCAGGGAAGGGCAGGGCTTAGAAAGGGAGAAGACAGAAGGGGAGGGGCTCAGGAGGAGGGGGGGAGTGGGCGTGGCTGTGGGTGTCAGCCGGGTCCTGCGCCAGTCTGCACTCACCGTGAAGGTGACGTTGCCCATGTGGTTGGTGGCAGGGGTCAGCACAGTCTTCTCACTGGACAGCACTAGTTTTTTGCCTGGGAAGTCGTGGACAGTAACAGTGACTGGAACATCCCCTTGCGCGTCGTGGGCCTCCAGCACCATGGTCTCCTCGCTCTCCAGCCGCAAGATGTTGGGGGTGATGATAGAGTACCTGTCGGAGTGGGGCACGGGAGTGGGCTTGTCATTCCACGGATGTGAGACGCCAGTCCTCACTGGAGTCAGCGCCTGGCAGGCTGTGTGCCCCAGCCTCTGGTCCTGGAGAGGATCCAGTGACTGCCGGCGCACTTGCCAATGCCATTATCTTCTCTGGGCACTGCCACCGTCTCAACCACATGGGCAGGACAGCAGCCACCATGACTCCCACTCTCAGCCAGCTGGGCCTGGCCTTTGAAAGCCTGGGCAACGAGGGGGCCACACATCCCACCAAACCCTGAACCTTCCAACCAGCGTCAGCAACTCCTCCAAGTCTCTGGACTTCCAGACCCACAATCGCCTAAACCCACACATGCCCCAAACCCTAAACCTCTACCTCTCTAAACACTCCAAATATGTAAACACTCAAACTCCCGGACACCCTCAACTCTACCTACCCAAACCCACATACGCCAAAACCTCTAAACCTCAAATCTTAGAGCACCCCAAACCCAGCCTAAACCTCCAACACCCCAGTCCTAATAAATACAATCAATTCCAAATGCCCCAACTATACATGAACCCGAAGTAGCCAATCTTTAAACCCACACTGAAAATTGCAAGTCCCCAAGCTGCAAACTCCCAAATCTTGTAAAGTCCAAACCTCCGAGTCTCCAAACACCCCCAACCGCACCATCAATGAACACCACATACACCCTAAACCAACAGATGACCTCAATTCTAGAAACATCCCAAACTCCAATTCCACCATACCTGGATTCCACAAACACCCAACCCATAAACACCCAAACTCTCAGGCAGCCCAAATGTATATAAACTCCAATTCCACGATACCTGGATTCCACAAACACCCAACCACAAACACCCAAACTCACAGGCAGCCCAAATGTATATAAACTCCAATTCCATGATACCTGGATTCCACAAACACCCAACCACAAACACCC | pathogenic | 294,812 |
A genetic variant on chromosome 19, position 6720590, affects the gene C3 (complement C3). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | benign | GGAGGGAGGGGCATGTGAAGGAGGTGCGAGGGGAGAGGGGGGACCAGGGAGGGAACTCAAAAAGAAGAGCTCACAAGGAGGAGAGAGCTTATAGGAGGAGGGGCTCAGAAGGGGCGGGGACTCAGAAAGGGAAGGGGCTGACATGGGAGGGGCTCAGAAAGGGGGAGGGACTCAGGTGAGGGAACTTAGAAAGTGATGGAGACTAAGAGGGGAGGAGTTCAGAAGAGGAGACTTCGAGGGGGAGGGGCTTGGAAAAGGAATTCAGTGGGAGGGACTTAGAGGGGGAGGAGACTCAGAAGGGGTGGAGTCTCAGAGAAGGGGAGGAACCTCAGAAGGGGTGGGGTCTCAGGGAAGGGAGGGACTCAGAAGGGGAGGAGTCTCAGAAGGGGTGGGGTCTCAGGGAAGGTCAGGGCTTAGAAGGGGAGGAGATTCAGAAGGGGTGGGGGGGGGTCTCAGAAAAGGGAGGGGCTTATAAGGGGAGGAGACTCAGAAGGGGTGGAGTCTCAGAGAAGGGAGGGGCTTAGAAGGAGAGGCGACTCCGAAGGGGTGGAGTCTCAGGGAAGGGCAGGGCTTAGAAAGGGAGAAGACAGAAGGGGAGGGGCTCAGGAGGAGGGGGGGAGTGGGCGTGGCTGTGGGTGTCAGCCGGGTCCTGCGCCAGTCTGCACTCACCGTGAAGGTGACGTTGCCCATGTGGTTGGTGGCAGGGGTCAGCACAGTCTTCTCACTGGACAGCACTAGTTTTTTGCCTGGGAAGTCGTGGACAGTAACAGTGACTGGAACATCCCCTTGCGCGTCGTGGGCCTCCAGCACCATGGTCTCCTCGCTCTCCAGCCGCAAGATGTTGGGGGTGATGATAGAGTACCTGTCGGAGTGGGGCACGGGAGTGGGCTTGTCATTCCACGGATGTGAGACGCCAGTCCTCACTGGAGTCAGCGCCTGGCAGGCTGTGTGCCCCAGCCTCTGGTCCTGGAGAGGATCCAGTGACTGCCGGCGCACTTGCCAATGCCATTATCTTCTCTGGGCACTGCCACCGTCTCAACCACATGGGCAGGACAGCAGCCACCATGACTCCCACTCTCAGCCAGCTGGGCCTGGCCTTTGAAAGCCTGGGCAACGAGGGGGCCACACATCCCACCAAACCCTGAACCTTCCAACCAGCGTCAGCAACTCCTCCAAGTCTCTGGACTTCCAGACCCACAATCGCCTAAACCCACACATGCCCCAAACCCTAAACCTCTACCTCTCTAAACACTCCAAATATGTAAACACTCAAACTCCCGGACACCCTCAACTCTACCTACCCAAACCCACATACGCCAAAACCTCTAAACCTCAAATCTTAGAGCACCCCAAACCCAGCCTAAACCTCCAACACCCCAGTCCTAATAAATACAATCAATTCCAAATGCCCCAACTATACATGAACCCGAAGTAGCCAATCTTTAAACCCACACTGAAAATTGCAAGTCCCCAAGCTGCAAACTCCCAAATCTTGTAAAGTCCAAACCTCCGAGTCTCCAAACACCCCCAACCGCACCATCAATGAACACCACATACACCCTAAACCAACAGATGACCTCAATTCTAGAAACATCCCAAACTCCAATTCCACCATACCTGGATTCCACAAACACCCAACCCATAAACACCCAAACTCTCAGGCAGCCCAAATGTATATAAACTCCAATTCCACGATACCTGGATTCCACAAACACCCAACCACAAACACCCAAACTCACAGGCAGCCCAAATGTATATAAACTCCAATTCCATGATACCTGGATTCCACAAACACCCAACCACAAACACCCAAACTCACAGGCAGCCCAAATATATATAATCATTCCCAACCTGCTAACCCCTGAATCCACAAACACCCAAATGCACCCTGAATTCTACAGGGACCTGGACCCCCAAATGTCTGCTTCCACCCCAGAACCAGCCCTGTTTGTGGGTAGAGTCATAACCACTCACATGGGACTCCCCAGAGCCAGGGGGAGGTGGGTTAGTAGCAGGAGCAGCAGGCTGGGACCTGAGGTGGGTCCCATGGTGCTGGGACAGTGCAGGGTCAGAGGGACAGAGGGACAGAGGGAGAGGATGGGGAGGAGTGAGCAGCGCCTGCTGGAGCTGGCTTTTTATCTGGCTCCTGCCTTTCCCCCACTCAGCCCCCCCTTCTCCCCATGGCCTCTCCCCTTTTGGGGCTGCCCCAGATTTCTCAATACCATTTCCTAAGCTTTTCAGTCCCTGGGGCCAACATGTCCATGGGGTGAGTAACCTGAGGGCATGTTCCCCAGCAGCATGAATGCAGCTGCACCCTGCCCTGGACTCTCCCAGGGTCAGGGCCACCTGGTGAACACAGACCTTTCTCTGTTGGACCCACTTTGTAGTGGAAGAACACTAAGGTCTGGAGAACCCCCCACCGCAGATGTCTTGGACCTCATCCCCAGTTCACTTTTGGCCATGCGTTTATCAGTCGAACACTTCCTAGGAATCTCTCTGTAGGCTGGGAGTCAGAGCCCCACTTCCAGAGGCTTCCATGCTGAGGGAGGGGAAGTAGAATGGGGGAGGGACAGAGCCCAGCACAGAAACTCCCAGTTTCATGAAATGTTTTCTAGCTCATGTGCAGGGCAGGGAAAAAAAAGAAGAAGAAGAAATGTTTTCCCCAGTGAAATAGAACTCTGCTTCTTGGAGGGTCAGGGAAAACTTCCTGTAGGAGGGGACATTTCAGATGGGCTTTGAGGTATGTGCAGGAGTTCACTATCCAAGTGAGTTTATTTTCCAAGGAGGCTCCCCTCACTTACCCTTGTCAGGATGCCTGAGTGACTTTGGTGGTGAAAAAAGTCATCACTGAGGAAAGTCCTCATTTCTAGAGCTTTTGTACCTGTCTAATGTCAATATCCTCTTAGGATATTAAATTGTATTGTTTGTGTGTGTGTGTGTGTCTGTGTGTGTGTCTGTGTGTATAATATATTCATATTGATCAACATCTAAAAGGTACAAATGTGTATAGCAGTAAAGGTGGTCTTCCTCCCATCCCTGTTGACAGCATATTCTTTTTGTGTTTTCCTTTAAAAAAATTTTTTTTTCATTCTGTCACTCAGGCTAAATTGCAGTGGTGCAATCACAGCTCACTGCAGCCTCAACCTCCTGGGGTCAAGTGATCATCCTGGCTCAACCACCCAAGTAGCCGGGACTACGGGTGGCCGCCACCATGCCCGGATAATTTTTTTATTTTTGTGGAGATGGGGGTCCCACGATGTTGCCCAGTCCAGTCTTGAACTCCTGGGCTCAAGTGATCCTCCCGCAGCAGCCTCACAAAGTGCTGGTGTGAACTACTGTGCCCTGTGGACAGCACATAGCACATACTATTCTTCCTGGTCTCTTCAGTTAAATCTTGGGTTTCGTTTTGTTTCGTTTTTTCATGAACAATATACCTCAGAGGCTATTTCACCTCAGTGAGCAAAGAACTGCCTCATTCTTACAGGTTACAGGCCTCTTGTTATATTGTGAGAAAGTAACCAGCCTCCTACTTTTTGGGGGATATTTTGTTTGTTTGAGTGTTTTTTTTTTAGAGTCTTGCCCTGTCACCCAGGCTGGAGGGCAGTGGCGCTATCTCAGCTCACTGCACCCTCCACCTCCTGGGTTCAAACAATTCTCCTGCCTCAGCCTCCGGAATGGCTGAAATTATAGGTGAGCACCACCACGTCTGGCAATTTTTGTATTTTTAGTGGACAAGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACTTCAAGTGACCCACCTACCTTGGCCTCCCAAAGTGTTGGAATTACAGGCGTGAGCCGCTGTGTCCAGCCACCAGCCTCTTCTTGATGGAGAGACTGACATCTGTGGCTTCACACCAGGCTCTCTGCAGTGAATAAGCTTGAACCTGCGTTATTTTCTAGCTCTGAAACTAGCTGTGATCTTTGGGTAAGCTACTGATTACCGCCCTGAGCCTCAGTTTGTTCATGGAAAAGGAAACCCTTACCACCTGCTTCATAGAGTTGTCGTTGCAATGAAAGGAAATATGTTGGGTCAATCTCTGAATGCACTGGTAATCTTGCT | GGAGGGAGGGGCATGTGAAGGAGGTGCGAGGGGAGAGGGGGGACCAGGGAGGGAACTCAAAAAGAAGAGCTCACAAGGAGGAGAGAGCTTATAGGAGGAGGGGCTCAGAAGGGGCGGGGACTCAGAAAGGGAAGGGGCTGACATGGGAGGGGCTCAGAAAGGGGGAGGGACTCAGGTGAGGGAACTTAGAAAGTGATGGAGACTAAGAGGGGAGGAGTTCAGAAGAGGAGACTTCGAGGGGGAGGGGCTTGGAAAAGGAATTCAGTGGGAGGGACTTAGAGGGGGAGGAGACTCAGAAGGGGTGGAGTCTCAGAGAAGGGGAGGAACCTCAGAAGGGGTGGGGTCTCAGGGAAGGGAGGGACTCAGAAGGGGAGGAGTCTCAGAAGGGGTGGGGTCTCAGGGAAGGTCAGGGCTTAGAAGGGGAGGAGATTCAGAAGGGGTGGGGGGGGGTCTCAGAAAAGGGAGGGGCTTATAAGGGGAGGAGACTCAGAAGGGGTGGAGTCTCAGAGAAGGGAGGGGCTTAGAAGGAGAGGCGACTCCGAAGGGGTGGAGTCTCAGGGAAGGGCAGGGCTTAGAAAGGGAGAAGACAGAAGGGGAGGGGCTCAGGAGGAGGGGGGGAGTGGGCGTGGCTGTGGGTGTCAGCCGGGTCCTGCGCCAGTCTGCACTCACCGTGAAGGTGACGTTGCCCATGTGGTTGGTGGCAGGGGTCAGCACAGTCTTCTCACTGGACAGCACTAGTTTTTTGCCTGGGAAGTCGTGGACAGTAACAGTGACTGGAACATCCCCTTGCGCGTCGTGGGCCTCCAGCACCATGGTCTCCTCGCTCTCCAGCCGCAAGATGTTGGGGGTGATGATAGAGTACCTGTCGGAGTGGGGCACGGGAGTGGGCTTGTCATTCCACGGATGTGAGACGCCAGTCCTCACTGGAGTCAGCGCCTGGCAGGCTGTGTGCCCCAGCCTCTGGTCCTGGAGAGGATCCAGTGACTGCCGGCGCACTTGCCAATGCCATTATCTTCTCTGGGCACTGCCACCGTCTCAACCACATGGGCAGGACAGCAGCCACCATGACTCCCACTCTCAGCCAGCTGGGCCTGGCCTTTGAAAGCCTGGGCAACGAGGGGGCCACACATCCCACCAAACCCTGAACCTTCCAACCAGCGTCAGCAACTCCTCCAAGTCTCTGGACTTCCAGACCCACAATCGCCTAAACCCACACATGCCCCAAACCCTAAACCTCTACCTCTCTAAACACTCCAAATATGTAAACACTCAAACTCCCGGACACCCTCAACTCTACCTACCCAAACCCACATACGCCAAAACCTCTAAACCTCAAATCTTAGAGCACCCCAAACCCAGCCTAAACCTCCAACACCCCAGTCCTAATAAATACAATCAATTCCAAATGCCCCAACTATACATGAACCCGAAGTAGCCAATCTTTAAACCCACACTGAAAATTGCAAGTCCCCAAGCTGCAAACTCCCAAATCTTGTAAAGTCCAAACCTCCGAGTCTCCAAACACCCCCAACCGCACCATCAATGAACACCACATACACCCTAAACCAACAGATGACCTCAATTCTAGAAACATCCCAAACTCCAATTCCACCATACCTGGATTCCACAAACACCCAACCCATAAACACCCAAACTCTCAGGCAGCCCAAATGTATATAAACTCCAATTCCACGATACCTGGATTCCACAAACACCCAACCACAAACACCCAAACTCACAGGCAGCCCAAATGTATATAAACTCCAATTCCATGATACCTGGATTCCACAAACACCCAACCACAAACACCCAAACTCACAGGCAGCCCAAATATATATAATCATTCCCAACCTGCTAACCCCTGAATCCACAAACACCCAAATGCACCCTGAATTCTACAGGGACCTGGACCCCCAAATGTCTGCTTCCACCCCAGAACCAGCCCTGTTTGTGGGTAGAGTCATAACCACTCACATGGGACTCCCCAGAGCCAGGGGGAGGTGGGTTAGTAGCAGGAGCAGCAGGCTGGGACCTGAGGTGGGTCCCATGGTGTGCTGGGACAGTGCAGGGTCAGAGGGACAGAGGGACAGAGGGAGAGGATGGGGAGGAGTGAGCAGCGCCTGCTGGAGCTGGCTTTTTATCTGGCTCCTGCCTTTCCCCCACTCAGCCCCCCCTTCTCCCCATGGCCTCTCCCCTTTTGGGGCTGCCCCAGATTTCTCAATACCATTTCCTAAGCTTTTCAGTCCCTGGGGCCAACATGTCCATGGGGTGAGTAACCTGAGGGCATGTTCCCCAGCAGCATGAATGCAGCTGCACCCTGCCCTGGACTCTCCCAGGGTCAGGGCCACCTGGTGAACACAGACCTTTCTCTGTTGGACCCACTTTGTAGTGGAAGAACACTAAGGTCTGGAGAACCCCCCACCGCAGATGTCTTGGACCTCATCCCCAGTTCACTTTTGGCCATGCGTTTATCAGTCGAACACTTCCTAGGAATCTCTCTGTAGGCTGGGAGTCAGAGCCCCACTTCCAGAGGCTTCCATGCTGAGGGAGGGGAAGTAGAATGGGGGAGGGACAGAGCCCAGCACAGAAACTCCCAGTTTCATGAAATGTTTTCTAGCTCATGTGCAGGGCAGGGAAAAAAAAGAAGAAGAAGAAATGTTTTCCCCAGTGAAATAGAACTCTGCTTCTTGGAGGGTCAGGGAAAACTTCCTGTAGGAGGGGACATTTCAGATGGGCTTTGAGGTATGTGCAGGAGTTCACTATCCAAGTGAGTTTATTTTCCAAGGAGGCTCCCCTCACTTACCCTTGTCAGGATGCCTGAGTGACTTTGGTGGTGAAAAAAGTCATCACTGAGGAAAGTCCTCATTTCTAGAGCTTTTGTACCTGTCTAATGTCAATATCCTCTTAGGATATTAAATTGTATTGTTTGTGTGTGTGTGTGTGTCTGTGTGTGTGTCTGTGTGTATAATATATTCATATTGATCAACATCTAAAAGGTACAAATGTGTATAGCAGTAAAGGTGGTCTTCCTCCCATCCCTGTTGACAGCATATTCTTTTTGTGTTTTCCTTTAAAAAAATTTTTTTTTCATTCTGTCACTCAGGCTAAATTGCAGTGGTGCAATCACAGCTCACTGCAGCCTCAACCTCCTGGGGTCAAGTGATCATCCTGGCTCAACCACCCAAGTAGCCGGGACTACGGGTGGCCGCCACCATGCCCGGATAATTTTTTTATTTTTGTGGAGATGGGGGTCCCACGATGTTGCCCAGTCCAGTCTTGAACTCCTGGGCTCAAGTGATCCTCCCGCAGCAGCCTCACAAAGTGCTGGTGTGAACTACTGTGCCCTGTGGACAGCACATAGCACATACTATTCTTCCTGGTCTCTTCAGTTAAATCTTGGGTTTCGTTTTGTTTCGTTTTTTCATGAACAATATACCTCAGAGGCTATTTCACCTCAGTGAGCAAAGAACTGCCTCATTCTTACAGGTTACAGGCCTCTTGTTATATTGTGAGAAAGTAACCAGCCTCCTACTTTTTGGGGGATATTTTGTTTGTTTGAGTGTTTTTTTTTTAGAGTCTTGCCCTGTCACCCAGGCTGGAGGGCAGTGGCGCTATCTCAGCTCACTGCACCCTCCACCTCCTGGGTTCAAACAATTCTCCTGCCTCAGCCTCCGGAATGGCTGAAATTATAGGTGAGCACCACCACGTCTGGCAATTTTTGTATTTTTAGTGGACAAGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACTTCAAGTGACCCACCTACCTTGGCCTCCCAAAGTGTTGGAATTACAGGCGTGAGCCGCTGTGTCCAGCCACCAGCCTCTTCTTGATGGAGAGACTGACATCTGTGGCTTCACACCAGGCTCTCTGCAGTGAATAAGCTTGAACCTGCGTTATTTTCTAGCTCTGAAACTAGCTGTGATCTTTGGGTAAGCTACTGATTACCGCCCTGAGCCTCAGTTTGTTCATGGAAAAGGAAACCCTTACCACCTGCTTCATAGAGTTGTCGTTGCAATGAAAGGAAATATGTTGGGTCAATCTCTGAATGCACTGGTAATCTTG | benign | 294,818 |
Does the chromosome 19 mutation at position 7116767 within gene INSR (insulin receptor) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | benign | ATAAAAATTTACATGCGCTCCATTTTTTATGAGAGTGATTTTCAGAGTGATTTTATATATTAAAATAAATACTTTTTCCCCTAATATAAGAAAAACCTTTCTGAATTAGAAAAATGTGAAAATTGCAGCTAGTGTAGTATACAACCACTACAAATTTACTAAGAAGAGAACAAAATACCTAGTTCTACGTGTTTTTTTTTTAAATTTAGGTACAGACCCTCATATTTACAAAATAAATTTGGCAAAAATAATTTCTGTACTCTTGCTTCTTGTACCCAATCACTGAGGCTCCTCAGCAATATTTTTACATGCTGTATTTTCCCGAATCATATAAATAAGATAGCAATAGACAATTGGGATTCATGTCTACCTGTGTTCTTAATCAAGAATTGAGAGGGCTTGGAGGTTGCCATTATGACTCTATCCCATTCTTAAGCCCACAACTCTTAAGAGAAGAAGAAAAGGAAGCAGTCAAAAAGTTGTAAGAAAATGCACTCAGGAATAACGCATGGGCGATGATTTTTTGATGAACCAAAGTGATGAGTTCACTGTGTTCTTTGAGCAGCTGTGGTGGTTCTTTTTGCAAAGAGAAGAAACGGTGGATTCACGCCCATTCGGAAGTTCTTGGTGGTGTGTAAGGTCTTTTTCACGGTTTCTCCTCCAGACTCTACTCTCTTAGGGATTGCAACACTGTAAGCACCTGAGCATTCAGCTCAGGCACCACACCTGGCCCAGATGAGGTCACCGGGCTCAGAGCAGCTTCCGGGAGTTCAGTACTGAGGACCGTCAGATGCTCTCAGGGTGGAGGGGACCAAGACGTACTCTCAGTGCACCTCTCTCTTACATTGCTTAGATGTTCCCAAAGTCCATCCAGGTTGTTGTGCTTTGGGATCTGACGTTCTTGGGTTTGCACAATAACGGTTAGGATGTTCACACCCGGGAGAGGAAACGCCACAAGAGGTACACACAGAGAATCAGAGGATGAACACAGGTGTTCTTGAAGGCAGGCTCAGAGCTAGGTAGCTACCAGCTTATCCGAACAGGAACCTTCCAGCAGACCTGGTACCTGAACCAGACCATCCATAAAACCTAGTCTCTCACACACTCCACGTGGCCTCACAACATCCAAAAGTGTTAGCAGCGAACATGGCTTCATTCCCAGAAATGGATGCCTTTAAGACCAAACAAAGAGGCCACTTGTGCCTGACTCCCTCCCCTTCCCGGCCCCACAACAGGCAGACCAACTCATGTCCCCACTCCCCGCCAACCCCGGGGAATAGTCAATAACTTATGAGGCTAATACCAGAGACTTTAAAAATTAAATATGGTACAAATATATTCTCAAAACTCTGTCATCTCAGTTCTTTTTTTTTTTCCTTTTTCCATTTTGTTTTTTCTTTCTTTTTCTTTTTTTTTTTTTAATGTCCTAGCTTGGTTTGGTCTTGAAAAGATTCATAATCACTCCAAATGAAATGCTCCTCCCTTGGCCACCAATGTGAAGGGAGGGTAGAAACCTGAGGCTAGACTTCTGACACAAGAAGAATCTGTCGAGAGCACAGTCTCCCAGTCAATAAGAAGGAAGGAGAGAGGGGGATGAGCTCGCACCCTTGAGAAGAACCTTCATGAGCCAATTCCCAAAGCATCAACTCCGCATGGATACTTTGCACACACATCAGCCGTGTCTAATGGACACACACACGTGCATACACACGTGAGCACACGCCGGGACCACAGACCCTTATCCAAAATATGAAAGCAGCAGCTATTGGTCAATTTGAGGAACTCATTTTGTAAAGAAAAAAAAAATCCTTCAGCCTGGATGAGAGAAAAAAAAAAAACCAAAAAAACCATCTTGAAGCTCAACCTGTAAAACTTGAAATTCTCCTGGAACAGGGCTGGGTGTTTTTGTTTTGTTTTTTCTTTCGAACTTTTGTTCCACAAACAGGAAGTTTTGTCTTTTATACTGAAGCTCAGACACCAGCAAAAAAAAAAAAAAAAAAAAAGAATTTGTAAAAACAGGTGCTTTCTTTCCATCTGCTGGGGGCGGGTGGGGGGAACGAAAAAACACAAAATCCTGGTTTGAAACCGTCGTTGCCCCAAAGGAGCAGCAACTGTGGAAACCCCTTGCCCTCCAGGTTCACAGTTAAATCCTCTGCAGGACTAGTTAAATTGGTAACCAAACGAGTCCACCTTAAGATGAACAGAAATGTATAGGAACGATCTCTGAACTCCATTGGACATGGTAGAGTCGTGAGAATCCTGAGTTTTCCAGAGGCTTTCAAACCAGAGGAAAGCGAAAATGGGAACCCCTGCCCGCCCCCGCCACGGTAGGCACTGTTAGGAAGGATTGGACCGAGGCAAGGTCAGAATCCGCCCGTTTTTCTTGCCTCCGTTCATGTGTGTGTAAGGGATGTGTTCCTCGTAGCTCCGCTTGAAACCCAGCGAGGACCCTCCATCCCGGCCCCCCGCCTCCTCCCTCTGACAGTGCGAGGAACGGTCCAGGGGCACATTCTCCATGTCCTCAAACTCCATCTCCAGCTCCTCACTCTCGGGAGCCTTGTTCTCCTCGCTGTGGAAGAACGACACCTCTGGAAAGCTGGGGTGCAGGTCGTCCTTGAGCAGGTTGACAATCTCCAGGAAGGTTGGCCTCATCTTGGGGTTGAATTGCCAGCACATGCGCATGAGGTCAGTGCTGCGGGGCAGAAGGACACGTCCTGGGTGAGTCTGGGGGCCCTGCCACGCATCCTCCCAAACCCCCACTCTTGTCCCTGCAGCCGACACCCACGGACCACATGTGCTCACATCAGATGCTGGCTGTGTGTGTGGACAATTGTCAAGGCAGAAATAGCATTGCTAGAGGTGCTGAGAGATGGTGTTTTCTTTTTGCTTTTCTTCTTCTTATTTTGGACACAGCGTCTCATTCTGTCACCCAGGCTGGAGTGCAGTGGCATGATCATAGCTCACTGCAGCCTCTGCCTCCTAGGCTCGAGCAATCCTCTCACCTTGGCCTCCCAAGTAGCTGGGACCACAGGTGTGCACCACCATGCCTAGCTAATTTTTGTATTTTTTGCAGAGACAGGGTTTTGCTATGTTGCCCAGGCTGGCCTCAAACTCCTAGGCTCAAATGATCCACCCACCTTGGCCTCCCAAGGTGCTGGGATTACAGGTGTTAGCCACCATGCCTGGCCGCTTTTTTTTTTTTTTGAGACAGGGTTTCTCACTTTGTCACCCAGGATGGAGTGCAGTGGCGCAATCATAGCTCATTGCAGCCTTGAACTCCTGGGCTCAAGCCATCCTCCTGCCTCAACCTCCCAAAGTGCTGAGGTTCCAGGCATGAGCCATCCTGTCCAGCCTGAAAGATGGTTTTGAAAAGGGATTCCTCATTTCAAAACTGGCTCAAGAGTAATCCCAGCACTTTGGGAGGTTGAGCCAGGAGGCTGAGTCCAGGAGTTCAAGGTTGCAGTGAGCTGTGATTGTGCCACTGCGCTCTACCAGCCTGGGTGACACAGCGAGACTTCATCTAAATATATATATATGTACATATGCATATATATTTGGAGGGGGGAATATATAATATGTATGCCTGACAAAATTTTTGTGTGTCTGTGTTTGTTTTTGAGACAGAATCTCACTCTGTCACCCATGCTGCAGTGCAATGGTGCAGTCTCTGCTCACTGCAACCTCTGCCTCCCCGATTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCACGACCGCGCCTGGGTAATTTTTATATTTTTAATAGAGGCGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTTAGGTGATCGTTCACCTCGGTCTCCCAAATTGCTTGGGATTACAGGCGTGAGCCACCCATGCCCAGCTACCTGACAAAATTTTAAGTGTATAAAGAATTAACAGGCGGCTGTAATCCCAGCACTTTGGGAAGCCAAGGTGGGTGGATCACGAGGTCAGGAGATCGAGACCACGGTGAAACCCCATTTCTACTAAAAATACAAAAAAAAAAAAAAATTAGCCAGGCGCGGTGGTGGGTGCCTGTAGTCCTAGCTACTCGGGAGGC | ATAAAAATTTACATGCGCTCCATTTTTTATGAGAGTGATTTTCAGAGTGATTTTATATATTAAAATAAATACTTTTTCCCCTAATATAAGAAAAACCTTTCTGAATTAGAAAAATGTGAAAATTGCAGCTAGTGTAGTATACAACCACTACAAATTTACTAAGAAGAGAACAAAATACCTAGTTCTACGTGTTTTTTTTTTAAATTTAGGTACAGACCCTCATATTTACAAAATAAATTTGGCAAAAATAATTTCTGTACTCTTGCTTCTTGTACCCAATCACTGAGGCTCCTCAGCAATATTTTTACATGCTGTATTTTCCCGAATCATATAAATAAGATAGCAATAGACAATTGGGATTCATGTCTACCTGTGTTCTTAATCAAGAATTGAGAGGGCTTGGAGGTTGCCATTATGACTCTATCCCATTCTTAAGCCCACAACTCTTAAGAGAAGAAGAAAAGGAAGCAGTCAAAAAGTTGTAAGAAAATGCACTCAGGAATAACGCATGGGCGATGATTTTTTGATGAACCAAAGTGATGAGTTCACTGTGTTCTTTGAGCAGCTGTGGTGGTTCTTTTTGCAAAGAGAAGAAACGGTGGATTCACGCCCATTCGGAAGTTCTTGGTGGTGTGTAAGGTCTTTTTCACGGTTTCTCCTCCAGACTCTACTCTCTTAGGGATTGCAACACTGTAAGCACCTGAGCATTCAGCTCAGGCACCACACCTGGCCCAGATGAGGTCACCGGGCTCAGAGCAGCTTCCGGGAGTTCAGTACTGAGGACCGTCAGATGCTCTCAGGGTGGAGGGGACCAAGACGTACTCTCAGTGCACCTCTCTCTTACATTGCTTAGATGTTCCCAAAGTCCATCCAGGTTGTTGTGCTTTGGGATCTGACGTTCTTGGGTTTGCACAATAACGGTTAGGATGTTCACACCCGGGAGAGGAAACGCCACAAGAGGTACACACAGAGAATCAGAGGATGAACACAGGTGTTCTTGAAGGCAGGCTCAGAGCTAGGTAGCTACCAGCTTATCCGAACAGGAACCTTCCAGCAGACCTGGTACCTGAACCAGACCATCCATAAAACCTAGTCTCTCACACACTCCACGTGGCCTCACAACATCCAAAAGTGTTAGCAGCGAACATGGCTTCATTCCCAGAAATGGATGCCTTTAAGACCAAACAAAGAGGCCACTTGTGCCTGACTCCCTCCCCTTCCCGGCCCCACAACAGGCAGACCAACTCATGTCCCCACTCCCCGCCAACCCCGGGGAATAGTCAATAACTTATGAGGCTAATACCAGAGACTTTAAAAATTAAATATGGTACAAATATATTCTCAAAACTCTGTCATCTCAGTTCTTTTTTTTTTTCCTTTTTCCATTTTGTTTTTTCTTTCTTTTTCTTTTTTTTTTTTTAATGTCCTAGCTTGGTTTGGTCTTGAAAAGATTCATAATCACTCCAAATGAAATGCTCCTCCCTTGGCCACCAATGTGAAGGGAGGGTAGAAACCTGAGGCTAGACTTCTGACACAAGAAGAATCTGTCGAGAGCACAGTCTCCCAGTCAATAAGAAGGAAGGAGAGAGGGGGATGAGCTCGCACCCTTGAGAAGAACCTTCATGAGCCAATTCCCAAAGCATCAACTCCGCATGGATACTTTGCACACACATCAGCCGTGTCTAATGGACACACACACGTGCATACACACGTGAGCACACGCCGGGACCACAGACCCTTATCCAAAATATGAAAGCAGCAGCTATTGGTCAATTTGAGGAACTCATTTTGTAAAGAAAAAAAAAATCCTTCAGCCTGGATGAGAGAAAAAAAAAAAACCAAAAAAACCATCTTGAAGCTCAACCTGTAAAACTTGAAATTCTCCTGGAACAGGGCTGGGTGTTTTTGTTTTGTTTTTTCTTTCGAACTTTTGTTCCACAAACAGGAAGTTTTGTCTTTTATACTGAAGCTCAGACACCAGCAAAAAAAAAAAAAAAAAAAAAGAATTTGTAAAAACAGGTGCTTTCTTTCCATCTGCTGGGGGCGGGTGGGGGAACGAAAAAACACAAAATCCTGGTTTGAAACCGTCGTTGCCCCAAAGGAGCAGCAACTGTGGAAACCCCTTGCCCTCCAGGTTCACAGTTAAATCCTCTGCAGGACTAGTTAAATTGGTAACCAAACGAGTCCACCTTAAGATGAACAGAAATGTATAGGAACGATCTCTGAACTCCATTGGACATGGTAGAGTCGTGAGAATCCTGAGTTTTCCAGAGGCTTTCAAACCAGAGGAAAGCGAAAATGGGAACCCCTGCCCGCCCCCGCCACGGTAGGCACTGTTAGGAAGGATTGGACCGAGGCAAGGTCAGAATCCGCCCGTTTTTCTTGCCTCCGTTCATGTGTGTGTAAGGGATGTGTTCCTCGTAGCTCCGCTTGAAACCCAGCGAGGACCCTCCATCCCGGCCCCCCGCCTCCTCCCTCTGACAGTGCGAGGAACGGTCCAGGGGCACATTCTCCATGTCCTCAAACTCCATCTCCAGCTCCTCACTCTCGGGAGCCTTGTTCTCCTCGCTGTGGAAGAACGACACCTCTGGAAAGCTGGGGTGCAGGTCGTCCTTGAGCAGGTTGACAATCTCCAGGAAGGTTGGCCTCATCTTGGGGTTGAATTGCCAGCACATGCGCATGAGGTCAGTGCTGCGGGGCAGAAGGACACGTCCTGGGTGAGTCTGGGGGCCCTGCCACGCATCCTCCCAAACCCCCACTCTTGTCCCTGCAGCCGACACCCACGGACCACATGTGCTCACATCAGATGCTGGCTGTGTGTGTGGACAATTGTCAAGGCAGAAATAGCATTGCTAGAGGTGCTGAGAGATGGTGTTTTCTTTTTGCTTTTCTTCTTCTTATTTTGGACACAGCGTCTCATTCTGTCACCCAGGCTGGAGTGCAGTGGCATGATCATAGCTCACTGCAGCCTCTGCCTCCTAGGCTCGAGCAATCCTCTCACCTTGGCCTCCCAAGTAGCTGGGACCACAGGTGTGCACCACCATGCCTAGCTAATTTTTGTATTTTTTGCAGAGACAGGGTTTTGCTATGTTGCCCAGGCTGGCCTCAAACTCCTAGGCTCAAATGATCCACCCACCTTGGCCTCCCAAGGTGCTGGGATTACAGGTGTTAGCCACCATGCCTGGCCGCTTTTTTTTTTTTTTGAGACAGGGTTTCTCACTTTGTCACCCAGGATGGAGTGCAGTGGCGCAATCATAGCTCATTGCAGCCTTGAACTCCTGGGCTCAAGCCATCCTCCTGCCTCAACCTCCCAAAGTGCTGAGGTTCCAGGCATGAGCCATCCTGTCCAGCCTGAAAGATGGTTTTGAAAAGGGATTCCTCATTTCAAAACTGGCTCAAGAGTAATCCCAGCACTTTGGGAGGTTGAGCCAGGAGGCTGAGTCCAGGAGTTCAAGGTTGCAGTGAGCTGTGATTGTGCCACTGCGCTCTACCAGCCTGGGTGACACAGCGAGACTTCATCTAAATATATATATATGTACATATGCATATATATTTGGAGGGGGGAATATATAATATGTATGCCTGACAAAATTTTTGTGTGTCTGTGTTTGTTTTTGAGACAGAATCTCACTCTGTCACCCATGCTGCAGTGCAATGGTGCAGTCTCTGCTCACTGCAACCTCTGCCTCCCCGATTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCACGACCGCGCCTGGGTAATTTTTATATTTTTAATAGAGGCGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTTAGGTGATCGTTCACCTCGGTCTCCCAAATTGCTTGGGATTACAGGCGTGAGCCACCCATGCCCAGCTACCTGACAAAATTTTAAGTGTATAAAGAATTAACAGGCGGCTGTAATCCCAGCACTTTGGGAAGCCAAGGTGGGTGGATCACGAGGTCAGGAGATCGAGACCACGGTGAAACCCCATTTCTACTAAAAATACAAAAAAAAAAAAAAATTAGCCAGGCGCGGTGGTGGGTGCCTGTAGTCCTAGCTACTCGGGAGGCN | benign | 294,857 |
Does the genetic variant at chromosome 19, position 7184640, impacting gene INSR (insulin receptor), appear benign or pathogenic? If pathogenic, name the associated disease(s). | benign | ACAATGCACCCCCCTCTCCTTTGTTTTCTTCCGTTCAGGAAAGGTCCCAGATACCAAGGATGTGCGGTCAATTTCTCAGGGTTTCTGTTTTAGCATCTCCCGCATCATCAGTGAGAAAATCAAAGGAGGTTGCTATATTTCTCAGGCCATTGTTAAGGTGAGGGAAAAATGCCTTTTATTTAAGGCCAATGTCTTTTAAACAAACATCTTGCCAGAAGATATTAACCCATTTTTTTTATTTCAATTGTGATTTTAAAAAGAAAGAAATGAATCAAAAGGAATATGGTCATTTCCTCAATCTTGGGAATACACTGGCCAAAAAAAAAAAAAAAAACCTAAAACAAAAGTCTGTCTGGTATGAAAAGGTGATTTATAGACCCTTTTGGTCAATAAAGCCAAAAGGTTTTTTTGGTAGGTTTTTATCAACAACGAGCAAAACAAAACATATTGTACTTGCAGGTTTCACAAACACTCAAAGAAAGAGTCATAAGAACTGAAATTACAGCTTGTTTTCCTTCCCGCCCTCTCCACCCAGGGAAATACAATTTCCCACCCCAACACTCTCGCTTGGCTAATTCTCAAGTCTGAAGAGGAAGATACTTTACGTAAGCAGGTCAGCTCAAGGCCTCTTGATGTGTGTCTGTTTCTGATTTGTTTTTGTGTTGTTTTGTGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTTAAAACAAAACATAAAACCTCAATACAAAAACCAGGAAACAGATTTTTGCAACTCAGTTACGGCCCCAAAATAGCTCATGGAAGAAGCTCACAGTACGAACAGAAAGTCTGCGATGTGCGTAGGAAATCTGACTCTGTCGAAGAGAGAAAACCCTGCTATTTCTCACCCAAACGGCAGGAAATGGTTTGATTATACTGTCCTTCAGAGAACAGCAAAGCCCTGAGAATAATGCAGAAGCGAGTCTCTTCCTCCTGGAGACAGTATGTTCTGGGCTAATCTTGGCACACCACCAGGCTACAGGTCAGGGAAGACACGAAAGACCTTGGTATATCCTTTATGTGACAATGATGAAGCTACATCAGTGAGGACAGGCCACGTGGAGGATTTTAGGGAAAACCAAGGACTCTGTCCTTATTATATTTTCTTGTTCTGAAGCCAACCACAGAAAGCTTAGAACTGAGGTCCACAATGCCAGACTGGGTGCGGTGGCTCACACCTGCAATCACAGCACTTTGAGAGGCCAAGGCAGGTGGACCACCTGAGGTTGGGAGTTCGAGACCAGCCTGACCAACATGGCGAAACCCTGTCTCTATTAAAAATACAAAAATTAGCCGGGCATGGTGGCAGGCACCTGCAGTCCCAGCTGCTTGGGAGGCTGAGGCAGGAAAATCGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAGGTTCGTGCCACTGCACTCCAGCTTGGGAGTCTTGCGGCAAGACTCCATCTCAAAAAAAAAAAAAAAGAATGGTGGGCACAATGCCAGAAGTATATACTATCTGGTCCTTTAGAGAAAAAGGTAGTCAACTCCCACTCCCAAGCCCAGGACCAAAACAGGGTGCAAAAGTAGCATCTGAGAGCAGAGACCTCACTCATAGCCAATTAACCCTGGGTTTGCACACAGTTTTAACAAGCGGCATCGTCACAACCAACCCCACGTTCCTTCTCCTCTCGGCTGCCCCCCAGACCCACATCCAGAACTCACTTGCTGGAATTCATCGTGTACCCGGAGGGACACTCAGGGATGCACTTGTTGTTGTGAATGACGTACTGGTGGCAGCCCTGCCTCCGCGAGTTCTTGCATTTGTGGTGCAGGTCCTGGCAGAAGCTGAAGTTCACACAGCGCCAGTCCTGGAAGTGGTAGTACGGGGGCGGGCAGGTCTCCACACACCTGCCGTCCAGGTAGAAGTTGCGGCAGGCCACGCACTTGGTGGGGTCGTCGGGCTGAGAACAGTTGCCCAGGCACTCGCTGTGGCAACAGAGGCCTTCGGCGGTGCAGCCGTGTGACTTACAGATGGTCGGGCAAACTGGAGAGAGAGAGAGAGAGAGAGGGAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATGGCTTTGTCCAATTCCTGTCTGCATATGCAGCAATTCTGGATCAGACAGTGAAAGCCAACCAAACACTAACAGTAAAAGCGGCACGTCTACATCATTACCCACATGTCAGACACATCTATTAACTGGTTTAAGCCTCCAAACCATTGGTGAGCTTGTAAATGTTTAACAGCTGCCTGAGGGAGGGGCCCAGGGAGGCCCAGATTTATATAGCATTTGCCGATTTCCATGGTGTAAATATTCCTACCAGTGGTGGATTTCAGGCCACCAACATGAAGTTACTAAACATAAGCTGACAAAAGATACACAGTAGCATTCCTCTAAGTAGTATTTATAAGTATACACAAAATGTATCTACTATTGACACAAAAGTAGTAAATAACCTCAACAGCACAAATAATAGGAAAACATCGTATGATATTAGGAGGTGGTGAGTTTTGAGTATTTGTTACTTTTAAAAAGCTTTGTTAATTTAAAAACTTTTGTTTTTAATGTAATTTGTTTAACTGTAGGTTTATGTAATTTTTATGAATATCTATGTTTAACAAATGGCTCACAAATTGCCTGAAAATTTCACCACTGGCTCCAGCAAGCCAACTCCAGCATGCTGCTGCACCCCACATGTGAAGTAGATACACTGTTAGCTCCTTTATTTTTTTGTTTTACAAATGGGGAAACTGAGGTACAGGGAGGTTAAGTAACTTGCCCCCAAACCACTGATTGCTTCAACAGACATTTGCTTGCACTAATCTAGATACTGTGGCCACTGTGGGGAAAAAAGTGGCTGCAGATCCTGCCTTTGGGAGCACAAGGTCTAATGGAGGAGACATGTTAGTTACTTAAACATGCAAATGTGGCTCGGTGTGGTGGCTCACGCCTGTAATCCTAGCAATTTGGGAGGTCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGTCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTAGGTGTGCTGGTGCATGCCTGTAATCCCAGCTGCTCAGGAGGCTGAGGCACGAGAATCACTTGAATCTGGGAGGTGGAGGCTGCAGTGAGCCATGATCGTGCCACTATACTCCAGCCTGGGCAACAAGTGCAAAATTCTGTCAAAAAAAAAAAAAAAAAAGAGAGAGAGAGACAAAGAGAGAGAGAAAAGGAAGGAAGGAAGGAAAAAAAAAAGGCTGGTTGTGGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCCAAGGTGGGCGGATCACCTGAGGTCAGGAGTTTCAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTGATGATACAAACAATTAGCCGGGTGTGGTGGTGGGCGTCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGGGAGGTTGCAGGGAGCCGAGATCATGCCACTGCACTCCAGCCTTGGTGACAGAGGGAGACTCTGTCTCAAAACAAAAAATGAAACAAAACAAAAAATAAGAAAGAAAGTTGGGGAGTGTTCTTCACCCCAAATCCCCAGACTGTGATTCTCAGCACAGTGGATCCCACCGGCCAAACTCAGGGAACAGAAGTGGCCCCAGAAGCTACATCCATATATGAACAGCACCATCTGGTCGAAATTTCTGCGATGACGGAAATGTTCTCTATCTGGGCCATCCAACATAGTAGCCACTTCTCCCCTGTGGCTTCTGAATGTGCTTAGTGCAACTAGGAAATCCAATTTTTTTTTTAATTGTGGTAAAATACACATAGCATAAAATTCACCATTGTAATCATGTTTAAATGTATAGTTCAGTGGTATTAAATACTTTTATGTGGCTATGCAACCATCACCACCACCCATCTCCAGAACTTTCTCACCTTAACCAAACTGAAACTCTGCCCCCATGAAACAGTCACACTCATCCTCCTCCCCAACTCCTGGCACCTGCCATTTTACTT | ACAATGCACCCCCCTCTCCTTTGTTTTCTTCCGTTCAGGAAAGGTCCCAGATACCAAGGATGTGCGGTCAATTTCTCAGGGTTTCTGTTTTAGCATCTCCCGCATCATCAGTGAGAAAATCAAAGGAGGTTGCTATATTTCTCAGGCCATTGTTAAGGTGAGGGAAAAATGCCTTTTATTTAAGGCCAATGTCTTTTAAACAAACATCTTGCCAGAAGATATTAACCCATTTTTTTTATTTCAATTGTGATTTTAAAAAGAAAGAAATGAATCAAAAGGAATATGGTCATTTCCTCAATCTTGGGAATACACTGGCCAAAAAAAAAAAAAAAAACCTAAAACAAAAGTCTGTCTGGTATGAAAAGGTGATTTATAGACCCTTTTGGTCAATAAAGCCAAAAGGTTTTTTTGGTAGGTTTTTATCAACAACGAGCAAAACAAAACATATTGTACTTGCAGGTTTCACAAACACTCAAAGAAAGAGTCATAAGAACTGAAATTACAGCTTGTTTTCCTTCCCGCCCTCTCCACCCAGGGAAATACAATTTCCCACCCCAACACTCTCGCTTGGCTAATTCTCAAGTCTGAAGAGGAAGATACTTTACGTAAGCAGGTCAGCTCAAGGCCTCTTGATGTGTGTCTGTTTCTGATTTGTTTTTGTGTTGTTTTGTGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTTAAAACAAAACATAAAACCTCAATACAAAAACCAGGAAACAGATTTTTGCAACTCAGTTACGGCCCCAAAATAGCTCATGGAAGAAGCTCACAGTACGAACAGAAAGTCTGCGATGTGCGTAGGAAATCTGACTCTGTCGAAGAGAGAAAACCCTGCTATTTCTCACCCAAACGGCAGGAAATGGTTTGATTATACTGTCCTTCAGAGAACAGCAAAGCCCTGAGAATAATGCAGAAGCGAGTCTCTTCCTCCTGGAGACAGTATGTTCTGGGCTAATCTTGGCACACCACCAGGCTACAGGTCAGGGAAGACACGAAAGACCTTGGTATATCCTTTATGTGACAATGATGAAGCTACATCAGTGAGGACAGGCCACGTGGAGGATTTTAGGGAAAACCAAGGACTCTGTCCTTATTATATTTTCTTGTTCTGAAGCCAACCACAGAAAGCTTAGAACTGAGGTCCACAATGCCAGACTGGGTGCGGTGGCTCACACCTGCAATCACAGCACTTTGAGAGGCCAAGGCAGGTGGACCACCTGAGGTTGGGAGTTCGAGACCAGCCTGACCAACATGGCGAAACCCTGTCTCTATTAAAAATACAAAAATTAGCCGGGCATGGTGGCAGGCACCTGCAGTCCCAGCTGCTTGGGAGGCTGAGGCAGGAAAATCGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAGGTTCGTGCCACTGCACTCCAGCTTGGGAGTCTTGCGGCAAGACTCCATCTCAAAAAAAAAAAAAAAGAATGGTGGGCACAATGCCAGAAGTATATACTATCTGGTCCTTTAGAGAAAAAGGTAGTCAACTCCCACTCCCAAGCCCAGGACCAAAACAGGGTGCAAAAGTAGCATCTGAGAGCAGAGACCTCACTCATAGCCAATTAACCCTGGGTTTGCACACAGTTTTAACAAGCGGCATCGTCACAACCAACCCCACGTTCCTTCTCCTCTCGGCTGCCCCCCAGACCCACATCCAGAACTCACTTGCTGGAATTCATCGTGTACCCGGAGGGACACTCAGGGATGCACTTGTTGTTGTGAATGACGTACTGGTGGCAGCCCTGCCTCCGCGAGTTCTTGCATTTGTGGTGCAGGTCCTGGCAGAAGCTGAAGTTCACACAGCGCCAGTCCTGGAAGTGGTAGTACGGGGGCGGGCAGGTCTCCACACACCTGCCGTCCAGGTAGAAGTTGCGGCAGGCCACGCACTTGGTGGGGTCGTCGGGCTGAGAACAGTTGCCCAGGCACTCGCTGTGGCAACAGAGGCCTTCGGCGGTGCAGCCGTGTGACTTACAGATGGTCGGGCAAACTGGAGAGAGAGAGAGAGAGAGAGAGGGAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATGGCTTTGTCCAATTCCTGTCTGCATATGCAGCAATTCTGGATCAGACAGTGAAAGCCAACCAAACACTAACAGTAAAAGCGGCACGTCTACATCATTACCCACATGTCAGACACATCTATTAACTGGTTTAAGCCTCCAAACCATTGGTGAGCTTGTAAATGTTTAACAGCTGCCTGAGGGAGGGGCCCAGGGAGGCCCAGATTTATATAGCATTTGCCGATTTCCATGGTGTAAATATTCCTACCAGTGGTGGATTTCAGGCCACCAACATGAAGTTACTAAACATAAGCTGACAAAAGATACACAGTAGCATTCCTCTAAGTAGTATTTATAAGTATACACAAAATGTATCTACTATTGACACAAAAGTAGTAAATAACCTCAACAGCACAAATAATAGGAAAACATCGTATGATATTAGGAGGTGGTGAGTTTTGAGTATTTGTTACTTTTAAAAAGCTTTGTTAATTTAAAAACTTTTGTTTTTAATGTAATTTGTTTAACTGTAGGTTTATGTAATTTTTATGAATATCTATGTTTAACAAATGGCTCACAAATTGCCTGAAAATTTCACCACTGGCTCCAGCAAGCCAACTCCAGCATGCTGCTGCACCCCACATGTGAAGTAGATACACTGTTAGCTCCTTTATTTTTTTGTTTTACAAATGGGGAAACTGAGGTACAGGGAGGTTAAGTAACTTGCCCCCAAACCACTGATTGCTTCAACAGACATTTGCTTGCACTAATCTAGATACTGTGGCCACTGTGGGGAAAAAAGTGGCTGCAGATCCTGCCTTTGGGAGCACAAGGTCTAATGGAGGAGACATGTTAGTTACTTAAACATGCAAATGTGGCTCGGTGTGGTGGCTCACGCCTGTAATCCTAGCAATTTGGGAGGTCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGTCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTAGGTGTGCTGGTGCATGCCTGTAATCCCAGCTGCTCAGGAGGCTGAGGCACGAGAATCACTTGAATCTGGGAGGTGGAGGCTGCAGTGAGCCATGATCGTGCCACTATACTCCAGCCTGGGCAACAAGTGCAAAATTCTGTCAAAAAAAAAAAAAAAAAAGAGAGAGAGAGACAAAGAGAGAGAGAAAAGGAAGGAAGGAAGGAAAAAAAAAAGGCTGGTTGTGGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCCAAGGTGGGCGGATCACCTGAGGTCAGGAGTTTCAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTGATGATACAAACAATTAGCCGGGTGTGGTGGTGGGCGTCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGGGAGGTTGCAGGGAGCCGAGATCATGCCACTGCACTCCAGCCTTGGTGACAGAGGGAGACTCTGTCTCAAAACAAAAAATGAAACAAAACAAAAAATAAGAAAGAAAGTTGGGGAGTGTTCTTCACCCCAAATCCCCAGACTGTGATTCTCAGCACAGTGGATCCCACCGGCCAAACTCAGGGAACAGAAGTGGCCCCAGAAGCTACATCCATATATGAACAGCACCATCTGGTCGAAATTTCTGCGATGACGGAAATGTTCTCTATCTGGGCCATCCAACATAGTAGCCACTTCTCCCCTGTGGCTTCTGAATGTGCTTAGTGCAACTAGGAAATCCAATTTTTTTTTTAATTGTGGTAAAATACACATAGCATAAAATTCACCATTGTAATCATGTTTAAATGTATAGTTCAGTGGTATTAAATACTTTTATGTGGCTATGCAACCATCACCACCACCCATCTCCAGAACTTTCTCACCTTAACCAAACTGAAACTCTGCCCCCATGAAACAGTCACACTCATCCTCCTCCCCAACTCCTGGCACCTGCCATTTTAC | benign | 294,943 |
Chromosome 19, position 7184640, gene INSR (insulin receptor): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | benign | ACAATGCACCCCCCTCTCCTTTGTTTTCTTCCGTTCAGGAAAGGTCCCAGATACCAAGGATGTGCGGTCAATTTCTCAGGGTTTCTGTTTTAGCATCTCCCGCATCATCAGTGAGAAAATCAAAGGAGGTTGCTATATTTCTCAGGCCATTGTTAAGGTGAGGGAAAAATGCCTTTTATTTAAGGCCAATGTCTTTTAAACAAACATCTTGCCAGAAGATATTAACCCATTTTTTTTATTTCAATTGTGATTTTAAAAAGAAAGAAATGAATCAAAAGGAATATGGTCATTTCCTCAATCTTGGGAATACACTGGCCAAAAAAAAAAAAAAAAACCTAAAACAAAAGTCTGTCTGGTATGAAAAGGTGATTTATAGACCCTTTTGGTCAATAAAGCCAAAAGGTTTTTTTGGTAGGTTTTTATCAACAACGAGCAAAACAAAACATATTGTACTTGCAGGTTTCACAAACACTCAAAGAAAGAGTCATAAGAACTGAAATTACAGCTTGTTTTCCTTCCCGCCCTCTCCACCCAGGGAAATACAATTTCCCACCCCAACACTCTCGCTTGGCTAATTCTCAAGTCTGAAGAGGAAGATACTTTACGTAAGCAGGTCAGCTCAAGGCCTCTTGATGTGTGTCTGTTTCTGATTTGTTTTTGTGTTGTTTTGTGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTTAAAACAAAACATAAAACCTCAATACAAAAACCAGGAAACAGATTTTTGCAACTCAGTTACGGCCCCAAAATAGCTCATGGAAGAAGCTCACAGTACGAACAGAAAGTCTGCGATGTGCGTAGGAAATCTGACTCTGTCGAAGAGAGAAAACCCTGCTATTTCTCACCCAAACGGCAGGAAATGGTTTGATTATACTGTCCTTCAGAGAACAGCAAAGCCCTGAGAATAATGCAGAAGCGAGTCTCTTCCTCCTGGAGACAGTATGTTCTGGGCTAATCTTGGCACACCACCAGGCTACAGGTCAGGGAAGACACGAAAGACCTTGGTATATCCTTTATGTGACAATGATGAAGCTACATCAGTGAGGACAGGCCACGTGGAGGATTTTAGGGAAAACCAAGGACTCTGTCCTTATTATATTTTCTTGTTCTGAAGCCAACCACAGAAAGCTTAGAACTGAGGTCCACAATGCCAGACTGGGTGCGGTGGCTCACACCTGCAATCACAGCACTTTGAGAGGCCAAGGCAGGTGGACCACCTGAGGTTGGGAGTTCGAGACCAGCCTGACCAACATGGCGAAACCCTGTCTCTATTAAAAATACAAAAATTAGCCGGGCATGGTGGCAGGCACCTGCAGTCCCAGCTGCTTGGGAGGCTGAGGCAGGAAAATCGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAGGTTCGTGCCACTGCACTCCAGCTTGGGAGTCTTGCGGCAAGACTCCATCTCAAAAAAAAAAAAAAAGAATGGTGGGCACAATGCCAGAAGTATATACTATCTGGTCCTTTAGAGAAAAAGGTAGTCAACTCCCACTCCCAAGCCCAGGACCAAAACAGGGTGCAAAAGTAGCATCTGAGAGCAGAGACCTCACTCATAGCCAATTAACCCTGGGTTTGCACACAGTTTTAACAAGCGGCATCGTCACAACCAACCCCACGTTCCTTCTCCTCTCGGCTGCCCCCCAGACCCACATCCAGAACTCACTTGCTGGAATTCATCGTGTACCCGGAGGGACACTCAGGGATGCACTTGTTGTTGTGAATGACGTACTGGTGGCAGCCCTGCCTCCGCGAGTTCTTGCATTTGTGGTGCAGGTCCTGGCAGAAGCTGAAGTTCACACAGCGCCAGTCCTGGAAGTGGTAGTACGGGGGCGGGCAGGTCTCCACACACCTGCCGTCCAGGTAGAAGTTGCGGCAGGCCACGCACTTGGTGGGGTCGTCGGGCTGAGAACAGTTGCCCAGGCACTCGCTGTGGCAACAGAGGCCTTCGGCGGTGCAGCCGTGTGACTTACAGATGGTCGGGCAAACTGGAGAGAGAGAGAGAGAGAGAGGGAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATGGCTTTGTCCAATTCCTGTCTGCATATGCAGCAATTCTGGATCAGACAGTGAAAGCCAACCAAACACTAACAGTAAAAGCGGCACGTCTACATCATTACCCACATGTCAGACACATCTATTAACTGGTTTAAGCCTCCAAACCATTGGTGAGCTTGTAAATGTTTAACAGCTGCCTGAGGGAGGGGCCCAGGGAGGCCCAGATTTATATAGCATTTGCCGATTTCCATGGTGTAAATATTCCTACCAGTGGTGGATTTCAGGCCACCAACATGAAGTTACTAAACATAAGCTGACAAAAGATACACAGTAGCATTCCTCTAAGTAGTATTTATAAGTATACACAAAATGTATCTACTATTGACACAAAAGTAGTAAATAACCTCAACAGCACAAATAATAGGAAAACATCGTATGATATTAGGAGGTGGTGAGTTTTGAGTATTTGTTACTTTTAAAAAGCTTTGTTAATTTAAAAACTTTTGTTTTTAATGTAATTTGTTTAACTGTAGGTTTATGTAATTTTTATGAATATCTATGTTTAACAAATGGCTCACAAATTGCCTGAAAATTTCACCACTGGCTCCAGCAAGCCAACTCCAGCATGCTGCTGCACCCCACATGTGAAGTAGATACACTGTTAGCTCCTTTATTTTTTTGTTTTACAAATGGGGAAACTGAGGTACAGGGAGGTTAAGTAACTTGCCCCCAAACCACTGATTGCTTCAACAGACATTTGCTTGCACTAATCTAGATACTGTGGCCACTGTGGGGAAAAAAGTGGCTGCAGATCCTGCCTTTGGGAGCACAAGGTCTAATGGAGGAGACATGTTAGTTACTTAAACATGCAAATGTGGCTCGGTGTGGTGGCTCACGCCTGTAATCCTAGCAATTTGGGAGGTCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGTCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTAGGTGTGCTGGTGCATGCCTGTAATCCCAGCTGCTCAGGAGGCTGAGGCACGAGAATCACTTGAATCTGGGAGGTGGAGGCTGCAGTGAGCCATGATCGTGCCACTATACTCCAGCCTGGGCAACAAGTGCAAAATTCTGTCAAAAAAAAAAAAAAAAAAGAGAGAGAGAGACAAAGAGAGAGAGAAAAGGAAGGAAGGAAGGAAAAAAAAAAGGCTGGTTGTGGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCCAAGGTGGGCGGATCACCTGAGGTCAGGAGTTTCAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTGATGATACAAACAATTAGCCGGGTGTGGTGGTGGGCGTCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGGGAGGTTGCAGGGAGCCGAGATCATGCCACTGCACTCCAGCCTTGGTGACAGAGGGAGACTCTGTCTCAAAACAAAAAATGAAACAAAACAAAAAATAAGAAAGAAAGTTGGGGAGTGTTCTTCACCCCAAATCCCCAGACTGTGATTCTCAGCACAGTGGATCCCACCGGCCAAACTCAGGGAACAGAAGTGGCCCCAGAAGCTACATCCATATATGAACAGCACCATCTGGTCGAAATTTCTGCGATGACGGAAATGTTCTCTATCTGGGCCATCCAACATAGTAGCCACTTCTCCCCTGTGGCTTCTGAATGTGCTTAGTGCAACTAGGAAATCCAATTTTTTTTTTAATTGTGGTAAAATACACATAGCATAAAATTCACCATTGTAATCATGTTTAAATGTATAGTTCAGTGGTATTAAATACTTTTATGTGGCTATGCAACCATCACCACCACCCATCTCCAGAACTTTCTCACCTTAACCAAACTGAAACTCTGCCCCCATGAAACAGTCACACTCATCCTCCTCCCCAACTCCTGGCACCTGCCATTTTACTT | ACAATGCACCCCCCTCTCCTTTGTTTTCTTCCGTTCAGGAAAGGTCCCAGATACCAAGGATGTGCGGTCAATTTCTCAGGGTTTCTGTTTTAGCATCTCCCGCATCATCAGTGAGAAAATCAAAGGAGGTTGCTATATTTCTCAGGCCATTGTTAAGGTGAGGGAAAAATGCCTTTTATTTAAGGCCAATGTCTTTTAAACAAACATCTTGCCAGAAGATATTAACCCATTTTTTTTATTTCAATTGTGATTTTAAAAAGAAAGAAATGAATCAAAAGGAATATGGTCATTTCCTCAATCTTGGGAATACACTGGCCAAAAAAAAAAAAAAAAACCTAAAACAAAAGTCTGTCTGGTATGAAAAGGTGATTTATAGACCCTTTTGGTCAATAAAGCCAAAAGGTTTTTTTGGTAGGTTTTTATCAACAACGAGCAAAACAAAACATATTGTACTTGCAGGTTTCACAAACACTCAAAGAAAGAGTCATAAGAACTGAAATTACAGCTTGTTTTCCTTCCCGCCCTCTCCACCCAGGGAAATACAATTTCCCACCCCAACACTCTCGCTTGGCTAATTCTCAAGTCTGAAGAGGAAGATACTTTACGTAAGCAGGTCAGCTCAAGGCCTCTTGATGTGTGTCTGTTTCTGATTTGTTTTTGTGTTGTTTTGTGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTTAAAACAAAACATAAAACCTCAATACAAAAACCAGGAAACAGATTTTTGCAACTCAGTTACGGCCCCAAAATAGCTCATGGAAGAAGCTCACAGTACGAACAGAAAGTCTGCGATGTGCGTAGGAAATCTGACTCTGTCGAAGAGAGAAAACCCTGCTATTTCTCACCCAAACGGCAGGAAATGGTTTGATTATACTGTCCTTCAGAGAACAGCAAAGCCCTGAGAATAATGCAGAAGCGAGTCTCTTCCTCCTGGAGACAGTATGTTCTGGGCTAATCTTGGCACACCACCAGGCTACAGGTCAGGGAAGACACGAAAGACCTTGGTATATCCTTTATGTGACAATGATGAAGCTACATCAGTGAGGACAGGCCACGTGGAGGATTTTAGGGAAAACCAAGGACTCTGTCCTTATTATATTTTCTTGTTCTGAAGCCAACCACAGAAAGCTTAGAACTGAGGTCCACAATGCCAGACTGGGTGCGGTGGCTCACACCTGCAATCACAGCACTTTGAGAGGCCAAGGCAGGTGGACCACCTGAGGTTGGGAGTTCGAGACCAGCCTGACCAACATGGCGAAACCCTGTCTCTATTAAAAATACAAAAATTAGCCGGGCATGGTGGCAGGCACCTGCAGTCCCAGCTGCTTGGGAGGCTGAGGCAGGAAAATCGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAGGTTCGTGCCACTGCACTCCAGCTTGGGAGTCTTGCGGCAAGACTCCATCTCAAAAAAAAAAAAAAAGAATGGTGGGCACAATGCCAGAAGTATATACTATCTGGTCCTTTAGAGAAAAAGGTAGTCAACTCCCACTCCCAAGCCCAGGACCAAAACAGGGTGCAAAAGTAGCATCTGAGAGCAGAGACCTCACTCATAGCCAATTAACCCTGGGTTTGCACACAGTTTTAACAAGCGGCATCGTCACAACCAACCCCACGTTCCTTCTCCTCTCGGCTGCCCCCCAGACCCACATCCAGAACTCACTTGCTGGAATTCATCGTGTACCCGGAGGGACACTCAGGGATGCACTTGTTGTTGTGAATGACGTACTGGTGGCAGCCCTGCCTCCGCGAGTTCTTGCATTTGTGGTGCAGGTCCTGGCAGAAGCTGAAGTTCACACAGCGCCAGTCCTGGAAGTGGTAGTACGGGGGCGGGCAGGTCTCCACACACCTGCCGTCCAGGTAGAAGTTGCGGCAGGCCACGCACTTGGTGGGGTCGTCGGGCTGAGAACAGTTGCCCAGGCACTCGCTGTGGCAACAGAGGCCTTCGGCGGTGCAGCCGTGTGACTTACAGATGGTCGGGCAAACTGGAGAGAGAGAGAGAGAGAGAGAGAGAGGGAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATGGCTTTGTCCAATTCCTGTCTGCATATGCAGCAATTCTGGATCAGACAGTGAAAGCCAACCAAACACTAACAGTAAAAGCGGCACGTCTACATCATTACCCACATGTCAGACACATCTATTAACTGGTTTAAGCCTCCAAACCATTGGTGAGCTTGTAAATGTTTAACAGCTGCCTGAGGGAGGGGCCCAGGGAGGCCCAGATTTATATAGCATTTGCCGATTTCCATGGTGTAAATATTCCTACCAGTGGTGGATTTCAGGCCACCAACATGAAGTTACTAAACATAAGCTGACAAAAGATACACAGTAGCATTCCTCTAAGTAGTATTTATAAGTATACACAAAATGTATCTACTATTGACACAAAAGTAGTAAATAACCTCAACAGCACAAATAATAGGAAAACATCGTATGATATTAGGAGGTGGTGAGTTTTGAGTATTTGTTACTTTTAAAAAGCTTTGTTAATTTAAAAACTTTTGTTTTTAATGTAATTTGTTTAACTGTAGGTTTATGTAATTTTTATGAATATCTATGTTTAACAAATGGCTCACAAATTGCCTGAAAATTTCACCACTGGCTCCAGCAAGCCAACTCCAGCATGCTGCTGCACCCCACATGTGAAGTAGATACACTGTTAGCTCCTTTATTTTTTTGTTTTACAAATGGGGAAACTGAGGTACAGGGAGGTTAAGTAACTTGCCCCCAAACCACTGATTGCTTCAACAGACATTTGCTTGCACTAATCTAGATACTGTGGCCACTGTGGGGAAAAAAGTGGCTGCAGATCCTGCCTTTGGGAGCACAAGGTCTAATGGAGGAGACATGTTAGTTACTTAAACATGCAAATGTGGCTCGGTGTGGTGGCTCACGCCTGTAATCCTAGCAATTTGGGAGGTCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGTCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTAGGTGTGCTGGTGCATGCCTGTAATCCCAGCTGCTCAGGAGGCTGAGGCACGAGAATCACTTGAATCTGGGAGGTGGAGGCTGCAGTGAGCCATGATCGTGCCACTATACTCCAGCCTGGGCAACAAGTGCAAAATTCTGTCAAAAAAAAAAAAAAAAAAGAGAGAGAGAGACAAAGAGAGAGAGAAAAGGAAGGAAGGAAGGAAAAAAAAAAGGCTGGTTGTGGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCCAAGGTGGGCGGATCACCTGAGGTCAGGAGTTTCAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTGATGATACAAACAATTAGCCGGGTGTGGTGGTGGGCGTCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGGGAGGTTGCAGGGAGCCGAGATCATGCCACTGCACTCCAGCCTTGGTGACAGAGGGAGACTCTGTCTCAAAACAAAAAATGAAACAAAACAAAAAATAAGAAAGAAAGTTGGGGAGTGTTCTTCACCCCAAATCCCCAGACTGTGATTCTCAGCACAGTGGATCCCACCGGCCAAACTCAGGGAACAGAAGTGGCCCCAGAAGCTACATCCATATATGAACAGCACCATCTGGTCGAAATTTCTGCGATGACGGAAATGTTCTCTATCTGGGCCATCCAACATAGTAGCCACTTCTCCCCTGTGGCTTCTGAATGTGCTTAGTGCAACTAGGAAATCCAATTTTTTTTTTAATTGTGGTAAAATACACATAGCATAAAATTCACCATTGTAATCATGTTTAAATGTATAGTTCAGTGGTATTAAATACTTTTATGTGGCTATGCAACCATCACCACCACCCATCTCCAGAACTTTCTCACCTTAACCAAACTGAAACTCTGCCCCCATGAAACAGTCACACTCATCCTCCTCCCCAACTCCTGGCACCTGCCATT | benign | 294,944 |
Considering the genetic mutation at chromosome 19, position 7184640, impacting INSR (insulin receptor): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | benign | ACAATGCACCCCCCTCTCCTTTGTTTTCTTCCGTTCAGGAAAGGTCCCAGATACCAAGGATGTGCGGTCAATTTCTCAGGGTTTCTGTTTTAGCATCTCCCGCATCATCAGTGAGAAAATCAAAGGAGGTTGCTATATTTCTCAGGCCATTGTTAAGGTGAGGGAAAAATGCCTTTTATTTAAGGCCAATGTCTTTTAAACAAACATCTTGCCAGAAGATATTAACCCATTTTTTTTATTTCAATTGTGATTTTAAAAAGAAAGAAATGAATCAAAAGGAATATGGTCATTTCCTCAATCTTGGGAATACACTGGCCAAAAAAAAAAAAAAAAACCTAAAACAAAAGTCTGTCTGGTATGAAAAGGTGATTTATAGACCCTTTTGGTCAATAAAGCCAAAAGGTTTTTTTGGTAGGTTTTTATCAACAACGAGCAAAACAAAACATATTGTACTTGCAGGTTTCACAAACACTCAAAGAAAGAGTCATAAGAACTGAAATTACAGCTTGTTTTCCTTCCCGCCCTCTCCACCCAGGGAAATACAATTTCCCACCCCAACACTCTCGCTTGGCTAATTCTCAAGTCTGAAGAGGAAGATACTTTACGTAAGCAGGTCAGCTCAAGGCCTCTTGATGTGTGTCTGTTTCTGATTTGTTTTTGTGTTGTTTTGTGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTTAAAACAAAACATAAAACCTCAATACAAAAACCAGGAAACAGATTTTTGCAACTCAGTTACGGCCCCAAAATAGCTCATGGAAGAAGCTCACAGTACGAACAGAAAGTCTGCGATGTGCGTAGGAAATCTGACTCTGTCGAAGAGAGAAAACCCTGCTATTTCTCACCCAAACGGCAGGAAATGGTTTGATTATACTGTCCTTCAGAGAACAGCAAAGCCCTGAGAATAATGCAGAAGCGAGTCTCTTCCTCCTGGAGACAGTATGTTCTGGGCTAATCTTGGCACACCACCAGGCTACAGGTCAGGGAAGACACGAAAGACCTTGGTATATCCTTTATGTGACAATGATGAAGCTACATCAGTGAGGACAGGCCACGTGGAGGATTTTAGGGAAAACCAAGGACTCTGTCCTTATTATATTTTCTTGTTCTGAAGCCAACCACAGAAAGCTTAGAACTGAGGTCCACAATGCCAGACTGGGTGCGGTGGCTCACACCTGCAATCACAGCACTTTGAGAGGCCAAGGCAGGTGGACCACCTGAGGTTGGGAGTTCGAGACCAGCCTGACCAACATGGCGAAACCCTGTCTCTATTAAAAATACAAAAATTAGCCGGGCATGGTGGCAGGCACCTGCAGTCCCAGCTGCTTGGGAGGCTGAGGCAGGAAAATCGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAGGTTCGTGCCACTGCACTCCAGCTTGGGAGTCTTGCGGCAAGACTCCATCTCAAAAAAAAAAAAAAAGAATGGTGGGCACAATGCCAGAAGTATATACTATCTGGTCCTTTAGAGAAAAAGGTAGTCAACTCCCACTCCCAAGCCCAGGACCAAAACAGGGTGCAAAAGTAGCATCTGAGAGCAGAGACCTCACTCATAGCCAATTAACCCTGGGTTTGCACACAGTTTTAACAAGCGGCATCGTCACAACCAACCCCACGTTCCTTCTCCTCTCGGCTGCCCCCCAGACCCACATCCAGAACTCACTTGCTGGAATTCATCGTGTACCCGGAGGGACACTCAGGGATGCACTTGTTGTTGTGAATGACGTACTGGTGGCAGCCCTGCCTCCGCGAGTTCTTGCATTTGTGGTGCAGGTCCTGGCAGAAGCTGAAGTTCACACAGCGCCAGTCCTGGAAGTGGTAGTACGGGGGCGGGCAGGTCTCCACACACCTGCCGTCCAGGTAGAAGTTGCGGCAGGCCACGCACTTGGTGGGGTCGTCGGGCTGAGAACAGTTGCCCAGGCACTCGCTGTGGCAACAGAGGCCTTCGGCGGTGCAGCCGTGTGACTTACAGATGGTCGGGCAAACTGGAGAGAGAGAGAGAGAGAGAGGGAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATGGCTTTGTCCAATTCCTGTCTGCATATGCAGCAATTCTGGATCAGACAGTGAAAGCCAACCAAACACTAACAGTAAAAGCGGCACGTCTACATCATTACCCACATGTCAGACACATCTATTAACTGGTTTAAGCCTCCAAACCATTGGTGAGCTTGTAAATGTTTAACAGCTGCCTGAGGGAGGGGCCCAGGGAGGCCCAGATTTATATAGCATTTGCCGATTTCCATGGTGTAAATATTCCTACCAGTGGTGGATTTCAGGCCACCAACATGAAGTTACTAAACATAAGCTGACAAAAGATACACAGTAGCATTCCTCTAAGTAGTATTTATAAGTATACACAAAATGTATCTACTATTGACACAAAAGTAGTAAATAACCTCAACAGCACAAATAATAGGAAAACATCGTATGATATTAGGAGGTGGTGAGTTTTGAGTATTTGTTACTTTTAAAAAGCTTTGTTAATTTAAAAACTTTTGTTTTTAATGTAATTTGTTTAACTGTAGGTTTATGTAATTTTTATGAATATCTATGTTTAACAAATGGCTCACAAATTGCCTGAAAATTTCACCACTGGCTCCAGCAAGCCAACTCCAGCATGCTGCTGCACCCCACATGTGAAGTAGATACACTGTTAGCTCCTTTATTTTTTTGTTTTACAAATGGGGAAACTGAGGTACAGGGAGGTTAAGTAACTTGCCCCCAAACCACTGATTGCTTCAACAGACATTTGCTTGCACTAATCTAGATACTGTGGCCACTGTGGGGAAAAAAGTGGCTGCAGATCCTGCCTTTGGGAGCACAAGGTCTAATGGAGGAGACATGTTAGTTACTTAAACATGCAAATGTGGCTCGGTGTGGTGGCTCACGCCTGTAATCCTAGCAATTTGGGAGGTCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGTCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTAGGTGTGCTGGTGCATGCCTGTAATCCCAGCTGCTCAGGAGGCTGAGGCACGAGAATCACTTGAATCTGGGAGGTGGAGGCTGCAGTGAGCCATGATCGTGCCACTATACTCCAGCCTGGGCAACAAGTGCAAAATTCTGTCAAAAAAAAAAAAAAAAAAGAGAGAGAGAGACAAAGAGAGAGAGAAAAGGAAGGAAGGAAGGAAAAAAAAAAGGCTGGTTGTGGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCCAAGGTGGGCGGATCACCTGAGGTCAGGAGTTTCAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTGATGATACAAACAATTAGCCGGGTGTGGTGGTGGGCGTCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGGGAGGTTGCAGGGAGCCGAGATCATGCCACTGCACTCCAGCCTTGGTGACAGAGGGAGACTCTGTCTCAAAACAAAAAATGAAACAAAACAAAAAATAAGAAAGAAAGTTGGGGAGTGTTCTTCACCCCAAATCCCCAGACTGTGATTCTCAGCACAGTGGATCCCACCGGCCAAACTCAGGGAACAGAAGTGGCCCCAGAAGCTACATCCATATATGAACAGCACCATCTGGTCGAAATTTCTGCGATGACGGAAATGTTCTCTATCTGGGCCATCCAACATAGTAGCCACTTCTCCCCTGTGGCTTCTGAATGTGCTTAGTGCAACTAGGAAATCCAATTTTTTTTTTAATTGTGGTAAAATACACATAGCATAAAATTCACCATTGTAATCATGTTTAAATGTATAGTTCAGTGGTATTAAATACTTTTATGTGGCTATGCAACCATCACCACCACCCATCTCCAGAACTTTCTCACCTTAACCAAACTGAAACTCTGCCCCCATGAAACAGTCACACTCATCCTCCTCCCCAACTCCTGGCACCTGCCATTTTACTT | ACAATGCACCCCCCTCTCCTTTGTTTTCTTCCGTTCAGGAAAGGTCCCAGATACCAAGGATGTGCGGTCAATTTCTCAGGGTTTCTGTTTTAGCATCTCCCGCATCATCAGTGAGAAAATCAAAGGAGGTTGCTATATTTCTCAGGCCATTGTTAAGGTGAGGGAAAAATGCCTTTTATTTAAGGCCAATGTCTTTTAAACAAACATCTTGCCAGAAGATATTAACCCATTTTTTTTATTTCAATTGTGATTTTAAAAAGAAAGAAATGAATCAAAAGGAATATGGTCATTTCCTCAATCTTGGGAATACACTGGCCAAAAAAAAAAAAAAAAACCTAAAACAAAAGTCTGTCTGGTATGAAAAGGTGATTTATAGACCCTTTTGGTCAATAAAGCCAAAAGGTTTTTTTGGTAGGTTTTTATCAACAACGAGCAAAACAAAACATATTGTACTTGCAGGTTTCACAAACACTCAAAGAAAGAGTCATAAGAACTGAAATTACAGCTTGTTTTCCTTCCCGCCCTCTCCACCCAGGGAAATACAATTTCCCACCCCAACACTCTCGCTTGGCTAATTCTCAAGTCTGAAGAGGAAGATACTTTACGTAAGCAGGTCAGCTCAAGGCCTCTTGATGTGTGTCTGTTTCTGATTTGTTTTTGTGTTGTTTTGTGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTTAAAACAAAACATAAAACCTCAATACAAAAACCAGGAAACAGATTTTTGCAACTCAGTTACGGCCCCAAAATAGCTCATGGAAGAAGCTCACAGTACGAACAGAAAGTCTGCGATGTGCGTAGGAAATCTGACTCTGTCGAAGAGAGAAAACCCTGCTATTTCTCACCCAAACGGCAGGAAATGGTTTGATTATACTGTCCTTCAGAGAACAGCAAAGCCCTGAGAATAATGCAGAAGCGAGTCTCTTCCTCCTGGAGACAGTATGTTCTGGGCTAATCTTGGCACACCACCAGGCTACAGGTCAGGGAAGACACGAAAGACCTTGGTATATCCTTTATGTGACAATGATGAAGCTACATCAGTGAGGACAGGCCACGTGGAGGATTTTAGGGAAAACCAAGGACTCTGTCCTTATTATATTTTCTTGTTCTGAAGCCAACCACAGAAAGCTTAGAACTGAGGTCCACAATGCCAGACTGGGTGCGGTGGCTCACACCTGCAATCACAGCACTTTGAGAGGCCAAGGCAGGTGGACCACCTGAGGTTGGGAGTTCGAGACCAGCCTGACCAACATGGCGAAACCCTGTCTCTATTAAAAATACAAAAATTAGCCGGGCATGGTGGCAGGCACCTGCAGTCCCAGCTGCTTGGGAGGCTGAGGCAGGAAAATCGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAGGTTCGTGCCACTGCACTCCAGCTTGGGAGTCTTGCGGCAAGACTCCATCTCAAAAAAAAAAAAAAAGAATGGTGGGCACAATGCCAGAAGTATATACTATCTGGTCCTTTAGAGAAAAAGGTAGTCAACTCCCACTCCCAAGCCCAGGACCAAAACAGGGTGCAAAAGTAGCATCTGAGAGCAGAGACCTCACTCATAGCCAATTAACCCTGGGTTTGCACACAGTTTTAACAAGCGGCATCGTCACAACCAACCCCACGTTCCTTCTCCTCTCGGCTGCCCCCCAGACCCACATCCAGAACTCACTTGCTGGAATTCATCGTGTACCCGGAGGGACACTCAGGGATGCACTTGTTGTTGTGAATGACGTACTGGTGGCAGCCCTGCCTCCGCGAGTTCTTGCATTTGTGGTGCAGGTCCTGGCAGAAGCTGAAGTTCACACAGCGCCAGTCCTGGAAGTGGTAGTACGGGGGCGGGCAGGTCTCCACACACCTGCCGTCCAGGTAGAAGTTGCGGCAGGCCACGCACTTGGTGGGGTCGTCGGGCTGAGAACAGTTGCCCAGGCACTCGCTGTGGCAACAGAGGCCTTCGGCGGTGCAGCCGTGTGACTTACAGATGGTCGGGCAAACTGGAGAGAGAGAGAGAGAGAGAGAGAGAGAGGGAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATGGCTTTGTCCAATTCCTGTCTGCATATGCAGCAATTCTGGATCAGACAGTGAAAGCCAACCAAACACTAACAGTAAAAGCGGCACGTCTACATCATTACCCACATGTCAGACACATCTATTAACTGGTTTAAGCCTCCAAACCATTGGTGAGCTTGTAAATGTTTAACAGCTGCCTGAGGGAGGGGCCCAGGGAGGCCCAGATTTATATAGCATTTGCCGATTTCCATGGTGTAAATATTCCTACCAGTGGTGGATTTCAGGCCACCAACATGAAGTTACTAAACATAAGCTGACAAAAGATACACAGTAGCATTCCTCTAAGTAGTATTTATAAGTATACACAAAATGTATCTACTATTGACACAAAAGTAGTAAATAACCTCAACAGCACAAATAATAGGAAAACATCGTATGATATTAGGAGGTGGTGAGTTTTGAGTATTTGTTACTTTTAAAAAGCTTTGTTAATTTAAAAACTTTTGTTTTTAATGTAATTTGTTTAACTGTAGGTTTATGTAATTTTTATGAATATCTATGTTTAACAAATGGCTCACAAATTGCCTGAAAATTTCACCACTGGCTCCAGCAAGCCAACTCCAGCATGCTGCTGCACCCCACATGTGAAGTAGATACACTGTTAGCTCCTTTATTTTTTTGTTTTACAAATGGGGAAACTGAGGTACAGGGAGGTTAAGTAACTTGCCCCCAAACCACTGATTGCTTCAACAGACATTTGCTTGCACTAATCTAGATACTGTGGCCACTGTGGGGAAAAAAGTGGCTGCAGATCCTGCCTTTGGGAGCACAAGGTCTAATGGAGGAGACATGTTAGTTACTTAAACATGCAAATGTGGCTCGGTGTGGTGGCTCACGCCTGTAATCCTAGCAATTTGGGAGGTCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGTCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTAGGTGTGCTGGTGCATGCCTGTAATCCCAGCTGCTCAGGAGGCTGAGGCACGAGAATCACTTGAATCTGGGAGGTGGAGGCTGCAGTGAGCCATGATCGTGCCACTATACTCCAGCCTGGGCAACAAGTGCAAAATTCTGTCAAAAAAAAAAAAAAAAAAGAGAGAGAGAGACAAAGAGAGAGAGAAAAGGAAGGAAGGAAGGAAAAAAAAAAGGCTGGTTGTGGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCCAAGGTGGGCGGATCACCTGAGGTCAGGAGTTTCAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTGATGATACAAACAATTAGCCGGGTGTGGTGGTGGGCGTCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGGGAGGTTGCAGGGAGCCGAGATCATGCCACTGCACTCCAGCCTTGGTGACAGAGGGAGACTCTGTCTCAAAACAAAAAATGAAACAAAACAAAAAATAAGAAAGAAAGTTGGGGAGTGTTCTTCACCCCAAATCCCCAGACTGTGATTCTCAGCACAGTGGATCCCACCGGCCAAACTCAGGGAACAGAAGTGGCCCCAGAAGCTACATCCATATATGAACAGCACCATCTGGTCGAAATTTCTGCGATGACGGAAATGTTCTCTATCTGGGCCATCCAACATAGTAGCCACTTCTCCCCTGTGGCTTCTGAATGTGCTTAGTGCAACTAGGAAATCCAATTTTTTTTTTAATTGTGGTAAAATACACATAGCATAAAATTCACCATTGTAATCATGTTTAAATGTATAGTTCAGTGGTATTAAATACTTTTATGTGGCTATGCAACCATCACCACCACCCATCTCCAGAACTTTCTCACCTTAACCAAACTGAAACTCTGCCCCCATGAAACAGTCACACTCATCCTCCTCCCCAACTCCTGGCACCTGCCA | benign | 294,945 |
Benign or pathogenic: chromosome 19, position 7184640, gene INSR (insulin receptor) variant? Disease(s) if pathogenic? | benign | ACAATGCACCCCCCTCTCCTTTGTTTTCTTCCGTTCAGGAAAGGTCCCAGATACCAAGGATGTGCGGTCAATTTCTCAGGGTTTCTGTTTTAGCATCTCCCGCATCATCAGTGAGAAAATCAAAGGAGGTTGCTATATTTCTCAGGCCATTGTTAAGGTGAGGGAAAAATGCCTTTTATTTAAGGCCAATGTCTTTTAAACAAACATCTTGCCAGAAGATATTAACCCATTTTTTTTATTTCAATTGTGATTTTAAAAAGAAAGAAATGAATCAAAAGGAATATGGTCATTTCCTCAATCTTGGGAATACACTGGCCAAAAAAAAAAAAAAAAACCTAAAACAAAAGTCTGTCTGGTATGAAAAGGTGATTTATAGACCCTTTTGGTCAATAAAGCCAAAAGGTTTTTTTGGTAGGTTTTTATCAACAACGAGCAAAACAAAACATATTGTACTTGCAGGTTTCACAAACACTCAAAGAAAGAGTCATAAGAACTGAAATTACAGCTTGTTTTCCTTCCCGCCCTCTCCACCCAGGGAAATACAATTTCCCACCCCAACACTCTCGCTTGGCTAATTCTCAAGTCTGAAGAGGAAGATACTTTACGTAAGCAGGTCAGCTCAAGGCCTCTTGATGTGTGTCTGTTTCTGATTTGTTTTTGTGTTGTTTTGTGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTTAAAACAAAACATAAAACCTCAATACAAAAACCAGGAAACAGATTTTTGCAACTCAGTTACGGCCCCAAAATAGCTCATGGAAGAAGCTCACAGTACGAACAGAAAGTCTGCGATGTGCGTAGGAAATCTGACTCTGTCGAAGAGAGAAAACCCTGCTATTTCTCACCCAAACGGCAGGAAATGGTTTGATTATACTGTCCTTCAGAGAACAGCAAAGCCCTGAGAATAATGCAGAAGCGAGTCTCTTCCTCCTGGAGACAGTATGTTCTGGGCTAATCTTGGCACACCACCAGGCTACAGGTCAGGGAAGACACGAAAGACCTTGGTATATCCTTTATGTGACAATGATGAAGCTACATCAGTGAGGACAGGCCACGTGGAGGATTTTAGGGAAAACCAAGGACTCTGTCCTTATTATATTTTCTTGTTCTGAAGCCAACCACAGAAAGCTTAGAACTGAGGTCCACAATGCCAGACTGGGTGCGGTGGCTCACACCTGCAATCACAGCACTTTGAGAGGCCAAGGCAGGTGGACCACCTGAGGTTGGGAGTTCGAGACCAGCCTGACCAACATGGCGAAACCCTGTCTCTATTAAAAATACAAAAATTAGCCGGGCATGGTGGCAGGCACCTGCAGTCCCAGCTGCTTGGGAGGCTGAGGCAGGAAAATCGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAGGTTCGTGCCACTGCACTCCAGCTTGGGAGTCTTGCGGCAAGACTCCATCTCAAAAAAAAAAAAAAAGAATGGTGGGCACAATGCCAGAAGTATATACTATCTGGTCCTTTAGAGAAAAAGGTAGTCAACTCCCACTCCCAAGCCCAGGACCAAAACAGGGTGCAAAAGTAGCATCTGAGAGCAGAGACCTCACTCATAGCCAATTAACCCTGGGTTTGCACACAGTTTTAACAAGCGGCATCGTCACAACCAACCCCACGTTCCTTCTCCTCTCGGCTGCCCCCCAGACCCACATCCAGAACTCACTTGCTGGAATTCATCGTGTACCCGGAGGGACACTCAGGGATGCACTTGTTGTTGTGAATGACGTACTGGTGGCAGCCCTGCCTCCGCGAGTTCTTGCATTTGTGGTGCAGGTCCTGGCAGAAGCTGAAGTTCACACAGCGCCAGTCCTGGAAGTGGTAGTACGGGGGCGGGCAGGTCTCCACACACCTGCCGTCCAGGTAGAAGTTGCGGCAGGCCACGCACTTGGTGGGGTCGTCGGGCTGAGAACAGTTGCCCAGGCACTCGCTGTGGCAACAGAGGCCTTCGGCGGTGCAGCCGTGTGACTTACAGATGGTCGGGCAAACTGGAGAGAGAGAGAGAGAGAGAGGGAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATGGCTTTGTCCAATTCCTGTCTGCATATGCAGCAATTCTGGATCAGACAGTGAAAGCCAACCAAACACTAACAGTAAAAGCGGCACGTCTACATCATTACCCACATGTCAGACACATCTATTAACTGGTTTAAGCCTCCAAACCATTGGTGAGCTTGTAAATGTTTAACAGCTGCCTGAGGGAGGGGCCCAGGGAGGCCCAGATTTATATAGCATTTGCCGATTTCCATGGTGTAAATATTCCTACCAGTGGTGGATTTCAGGCCACCAACATGAAGTTACTAAACATAAGCTGACAAAAGATACACAGTAGCATTCCTCTAAGTAGTATTTATAAGTATACACAAAATGTATCTACTATTGACACAAAAGTAGTAAATAACCTCAACAGCACAAATAATAGGAAAACATCGTATGATATTAGGAGGTGGTGAGTTTTGAGTATTTGTTACTTTTAAAAAGCTTTGTTAATTTAAAAACTTTTGTTTTTAATGTAATTTGTTTAACTGTAGGTTTATGTAATTTTTATGAATATCTATGTTTAACAAATGGCTCACAAATTGCCTGAAAATTTCACCACTGGCTCCAGCAAGCCAACTCCAGCATGCTGCTGCACCCCACATGTGAAGTAGATACACTGTTAGCTCCTTTATTTTTTTGTTTTACAAATGGGGAAACTGAGGTACAGGGAGGTTAAGTAACTTGCCCCCAAACCACTGATTGCTTCAACAGACATTTGCTTGCACTAATCTAGATACTGTGGCCACTGTGGGGAAAAAAGTGGCTGCAGATCCTGCCTTTGGGAGCACAAGGTCTAATGGAGGAGACATGTTAGTTACTTAAACATGCAAATGTGGCTCGGTGTGGTGGCTCACGCCTGTAATCCTAGCAATTTGGGAGGTCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGTCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTAGGTGTGCTGGTGCATGCCTGTAATCCCAGCTGCTCAGGAGGCTGAGGCACGAGAATCACTTGAATCTGGGAGGTGGAGGCTGCAGTGAGCCATGATCGTGCCACTATACTCCAGCCTGGGCAACAAGTGCAAAATTCTGTCAAAAAAAAAAAAAAAAAAGAGAGAGAGAGACAAAGAGAGAGAGAAAAGGAAGGAAGGAAGGAAAAAAAAAAGGCTGGTTGTGGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCCAAGGTGGGCGGATCACCTGAGGTCAGGAGTTTCAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTGATGATACAAACAATTAGCCGGGTGTGGTGGTGGGCGTCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGGGAGGTTGCAGGGAGCCGAGATCATGCCACTGCACTCCAGCCTTGGTGACAGAGGGAGACTCTGTCTCAAAACAAAAAATGAAACAAAACAAAAAATAAGAAAGAAAGTTGGGGAGTGTTCTTCACCCCAAATCCCCAGACTGTGATTCTCAGCACAGTGGATCCCACCGGCCAAACTCAGGGAACAGAAGTGGCCCCAGAAGCTACATCCATATATGAACAGCACCATCTGGTCGAAATTTCTGCGATGACGGAAATGTTCTCTATCTGGGCCATCCAACATAGTAGCCACTTCTCCCCTGTGGCTTCTGAATGTGCTTAGTGCAACTAGGAAATCCAATTTTTTTTTTAATTGTGGTAAAATACACATAGCATAAAATTCACCATTGTAATCATGTTTAAATGTATAGTTCAGTGGTATTAAATACTTTTATGTGGCTATGCAACCATCACCACCACCCATCTCCAGAACTTTCTCACCTTAACCAAACTGAAACTCTGCCCCCATGAAACAGTCACACTCATCCTCCTCCCCAACTCCTGGCACCTGCCATTTTACTT | ACAATGCACCCCCCTCTCCTTTGTTTTCTTCCGTTCAGGAAAGGTCCCAGATACCAAGGATGTGCGGTCAATTTCTCAGGGTTTCTGTTTTAGCATCTCCCGCATCATCAGTGAGAAAATCAAAGGAGGTTGCTATATTTCTCAGGCCATTGTTAAGGTGAGGGAAAAATGCCTTTTATTTAAGGCCAATGTCTTTTAAACAAACATCTTGCCAGAAGATATTAACCCATTTTTTTTATTTCAATTGTGATTTTAAAAAGAAAGAAATGAATCAAAAGGAATATGGTCATTTCCTCAATCTTGGGAATACACTGGCCAAAAAAAAAAAAAAAAACCTAAAACAAAAGTCTGTCTGGTATGAAAAGGTGATTTATAGACCCTTTTGGTCAATAAAGCCAAAAGGTTTTTTTGGTAGGTTTTTATCAACAACGAGCAAAACAAAACATATTGTACTTGCAGGTTTCACAAACACTCAAAGAAAGAGTCATAAGAACTGAAATTACAGCTTGTTTTCCTTCCCGCCCTCTCCACCCAGGGAAATACAATTTCCCACCCCAACACTCTCGCTTGGCTAATTCTCAAGTCTGAAGAGGAAGATACTTTACGTAAGCAGGTCAGCTCAAGGCCTCTTGATGTGTGTCTGTTTCTGATTTGTTTTTGTGTTGTTTTGTGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTTAAAACAAAACATAAAACCTCAATACAAAAACCAGGAAACAGATTTTTGCAACTCAGTTACGGCCCCAAAATAGCTCATGGAAGAAGCTCACAGTACGAACAGAAAGTCTGCGATGTGCGTAGGAAATCTGACTCTGTCGAAGAGAGAAAACCCTGCTATTTCTCACCCAAACGGCAGGAAATGGTTTGATTATACTGTCCTTCAGAGAACAGCAAAGCCCTGAGAATAATGCAGAAGCGAGTCTCTTCCTCCTGGAGACAGTATGTTCTGGGCTAATCTTGGCACACCACCAGGCTACAGGTCAGGGAAGACACGAAAGACCTTGGTATATCCTTTATGTGACAATGATGAAGCTACATCAGTGAGGACAGGCCACGTGGAGGATTTTAGGGAAAACCAAGGACTCTGTCCTTATTATATTTTCTTGTTCTGAAGCCAACCACAGAAAGCTTAGAACTGAGGTCCACAATGCCAGACTGGGTGCGGTGGCTCACACCTGCAATCACAGCACTTTGAGAGGCCAAGGCAGGTGGACCACCTGAGGTTGGGAGTTCGAGACCAGCCTGACCAACATGGCGAAACCCTGTCTCTATTAAAAATACAAAAATTAGCCGGGCATGGTGGCAGGCACCTGCAGTCCCAGCTGCTTGGGAGGCTGAGGCAGGAAAATCGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAGGTTCGTGCCACTGCACTCCAGCTTGGGAGTCTTGCGGCAAGACTCCATCTCAAAAAAAAAAAAAAAGAATGGTGGGCACAATGCCAGAAGTATATACTATCTGGTCCTTTAGAGAAAAAGGTAGTCAACTCCCACTCCCAAGCCCAGGACCAAAACAGGGTGCAAAAGTAGCATCTGAGAGCAGAGACCTCACTCATAGCCAATTAACCCTGGGTTTGCACACAGTTTTAACAAGCGGCATCGTCACAACCAACCCCACGTTCCTTCTCCTCTCGGCTGCCCCCCAGACCCACATCCAGAACTCACTTGCTGGAATTCATCGTGTACCCGGAGGGACACTCAGGGATGCACTTGTTGTTGTGAATGACGTACTGGTGGCAGCCCTGCCTCCGCGAGTTCTTGCATTTGTGGTGCAGGTCCTGGCAGAAGCTGAAGTTCACACAGCGCCAGTCCTGGAAGTGGTAGTACGGGGGCGGGCAGGTCTCCACACACCTGCCGTCCAGGTAGAAGTTGCGGCAGGCCACGCACTTGGTGGGGTCGTCGGGCTGAGAACAGTTGCCCAGGCACTCGCTGTGGCAACAGAGGCCTTCGGCGGTGCAGCCGTGTGACTTACAGATGGTCGGGCAAACTGGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGGGAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATGGCTTTGTCCAATTCCTGTCTGCATATGCAGCAATTCTGGATCAGACAGTGAAAGCCAACCAAACACTAACAGTAAAAGCGGCACGTCTACATCATTACCCACATGTCAGACACATCTATTAACTGGTTTAAGCCTCCAAACCATTGGTGAGCTTGTAAATGTTTAACAGCTGCCTGAGGGAGGGGCCCAGGGAGGCCCAGATTTATATAGCATTTGCCGATTTCCATGGTGTAAATATTCCTACCAGTGGTGGATTTCAGGCCACCAACATGAAGTTACTAAACATAAGCTGACAAAAGATACACAGTAGCATTCCTCTAAGTAGTATTTATAAGTATACACAAAATGTATCTACTATTGACACAAAAGTAGTAAATAACCTCAACAGCACAAATAATAGGAAAACATCGTATGATATTAGGAGGTGGTGAGTTTTGAGTATTTGTTACTTTTAAAAAGCTTTGTTAATTTAAAAACTTTTGTTTTTAATGTAATTTGTTTAACTGTAGGTTTATGTAATTTTTATGAATATCTATGTTTAACAAATGGCTCACAAATTGCCTGAAAATTTCACCACTGGCTCCAGCAAGCCAACTCCAGCATGCTGCTGCACCCCACATGTGAAGTAGATACACTGTTAGCTCCTTTATTTTTTTGTTTTACAAATGGGGAAACTGAGGTACAGGGAGGTTAAGTAACTTGCCCCCAAACCACTGATTGCTTCAACAGACATTTGCTTGCACTAATCTAGATACTGTGGCCACTGTGGGGAAAAAAGTGGCTGCAGATCCTGCCTTTGGGAGCACAAGGTCTAATGGAGGAGACATGTTAGTTACTTAAACATGCAAATGTGGCTCGGTGTGGTGGCTCACGCCTGTAATCCTAGCAATTTGGGAGGTCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGTCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTAGGTGTGCTGGTGCATGCCTGTAATCCCAGCTGCTCAGGAGGCTGAGGCACGAGAATCACTTGAATCTGGGAGGTGGAGGCTGCAGTGAGCCATGATCGTGCCACTATACTCCAGCCTGGGCAACAAGTGCAAAATTCTGTCAAAAAAAAAAAAAAAAAAGAGAGAGAGAGACAAAGAGAGAGAGAAAAGGAAGGAAGGAAGGAAAAAAAAAAGGCTGGTTGTGGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCCAAGGTGGGCGGATCACCTGAGGTCAGGAGTTTCAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTGATGATACAAACAATTAGCCGGGTGTGGTGGTGGGCGTCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGGGAGGTTGCAGGGAGCCGAGATCATGCCACTGCACTCCAGCCTTGGTGACAGAGGGAGACTCTGTCTCAAAACAAAAAATGAAACAAAACAAAAAATAAGAAAGAAAGTTGGGGAGTGTTCTTCACCCCAAATCCCCAGACTGTGATTCTCAGCACAGTGGATCCCACCGGCCAAACTCAGGGAACAGAAGTGGCCCCAGAAGCTACATCCATATATGAACAGCACCATCTGGTCGAAATTTCTGCGATGACGGAAATGTTCTCTATCTGGGCCATCCAACATAGTAGCCACTTCTCCCCTGTGGCTTCTGAATGTGCTTAGTGCAACTAGGAAATCCAATTTTTTTTTTAATTGTGGTAAAATACACATAGCATAAAATTCACCATTGTAATCATGTTTAAATGTATAGTTCAGTGGTATTAAATACTTTTATGTGGCTATGCAACCATCACCACCACCCATCTCCAGAACTTTCTCACCTTAACCAAACTGAAACTCTGCCCCCATGAAACAGTCACACTCATCCTCCTCCCCAACTCCTGGCACCTGC | benign | 294,946 |
A mutation at chromosome position 7184640 on chromosome 19 in gene INSR (insulin receptor): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | benign | ACAATGCACCCCCCTCTCCTTTGTTTTCTTCCGTTCAGGAAAGGTCCCAGATACCAAGGATGTGCGGTCAATTTCTCAGGGTTTCTGTTTTAGCATCTCCCGCATCATCAGTGAGAAAATCAAAGGAGGTTGCTATATTTCTCAGGCCATTGTTAAGGTGAGGGAAAAATGCCTTTTATTTAAGGCCAATGTCTTTTAAACAAACATCTTGCCAGAAGATATTAACCCATTTTTTTTATTTCAATTGTGATTTTAAAAAGAAAGAAATGAATCAAAAGGAATATGGTCATTTCCTCAATCTTGGGAATACACTGGCCAAAAAAAAAAAAAAAAACCTAAAACAAAAGTCTGTCTGGTATGAAAAGGTGATTTATAGACCCTTTTGGTCAATAAAGCCAAAAGGTTTTTTTGGTAGGTTTTTATCAACAACGAGCAAAACAAAACATATTGTACTTGCAGGTTTCACAAACACTCAAAGAAAGAGTCATAAGAACTGAAATTACAGCTTGTTTTCCTTCCCGCCCTCTCCACCCAGGGAAATACAATTTCCCACCCCAACACTCTCGCTTGGCTAATTCTCAAGTCTGAAGAGGAAGATACTTTACGTAAGCAGGTCAGCTCAAGGCCTCTTGATGTGTGTCTGTTTCTGATTTGTTTTTGTGTTGTTTTGTGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTTAAAACAAAACATAAAACCTCAATACAAAAACCAGGAAACAGATTTTTGCAACTCAGTTACGGCCCCAAAATAGCTCATGGAAGAAGCTCACAGTACGAACAGAAAGTCTGCGATGTGCGTAGGAAATCTGACTCTGTCGAAGAGAGAAAACCCTGCTATTTCTCACCCAAACGGCAGGAAATGGTTTGATTATACTGTCCTTCAGAGAACAGCAAAGCCCTGAGAATAATGCAGAAGCGAGTCTCTTCCTCCTGGAGACAGTATGTTCTGGGCTAATCTTGGCACACCACCAGGCTACAGGTCAGGGAAGACACGAAAGACCTTGGTATATCCTTTATGTGACAATGATGAAGCTACATCAGTGAGGACAGGCCACGTGGAGGATTTTAGGGAAAACCAAGGACTCTGTCCTTATTATATTTTCTTGTTCTGAAGCCAACCACAGAAAGCTTAGAACTGAGGTCCACAATGCCAGACTGGGTGCGGTGGCTCACACCTGCAATCACAGCACTTTGAGAGGCCAAGGCAGGTGGACCACCTGAGGTTGGGAGTTCGAGACCAGCCTGACCAACATGGCGAAACCCTGTCTCTATTAAAAATACAAAAATTAGCCGGGCATGGTGGCAGGCACCTGCAGTCCCAGCTGCTTGGGAGGCTGAGGCAGGAAAATCGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAGGTTCGTGCCACTGCACTCCAGCTTGGGAGTCTTGCGGCAAGACTCCATCTCAAAAAAAAAAAAAAAGAATGGTGGGCACAATGCCAGAAGTATATACTATCTGGTCCTTTAGAGAAAAAGGTAGTCAACTCCCACTCCCAAGCCCAGGACCAAAACAGGGTGCAAAAGTAGCATCTGAGAGCAGAGACCTCACTCATAGCCAATTAACCCTGGGTTTGCACACAGTTTTAACAAGCGGCATCGTCACAACCAACCCCACGTTCCTTCTCCTCTCGGCTGCCCCCCAGACCCACATCCAGAACTCACTTGCTGGAATTCATCGTGTACCCGGAGGGACACTCAGGGATGCACTTGTTGTTGTGAATGACGTACTGGTGGCAGCCCTGCCTCCGCGAGTTCTTGCATTTGTGGTGCAGGTCCTGGCAGAAGCTGAAGTTCACACAGCGCCAGTCCTGGAAGTGGTAGTACGGGGGCGGGCAGGTCTCCACACACCTGCCGTCCAGGTAGAAGTTGCGGCAGGCCACGCACTTGGTGGGGTCGTCGGGCTGAGAACAGTTGCCCAGGCACTCGCTGTGGCAACAGAGGCCTTCGGCGGTGCAGCCGTGTGACTTACAGATGGTCGGGCAAACTGGAGAGAGAGAGAGAGAGAGAGGGAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATGGCTTTGTCCAATTCCTGTCTGCATATGCAGCAATTCTGGATCAGACAGTGAAAGCCAACCAAACACTAACAGTAAAAGCGGCACGTCTACATCATTACCCACATGTCAGACACATCTATTAACTGGTTTAAGCCTCCAAACCATTGGTGAGCTTGTAAATGTTTAACAGCTGCCTGAGGGAGGGGCCCAGGGAGGCCCAGATTTATATAGCATTTGCCGATTTCCATGGTGTAAATATTCCTACCAGTGGTGGATTTCAGGCCACCAACATGAAGTTACTAAACATAAGCTGACAAAAGATACACAGTAGCATTCCTCTAAGTAGTATTTATAAGTATACACAAAATGTATCTACTATTGACACAAAAGTAGTAAATAACCTCAACAGCACAAATAATAGGAAAACATCGTATGATATTAGGAGGTGGTGAGTTTTGAGTATTTGTTACTTTTAAAAAGCTTTGTTAATTTAAAAACTTTTGTTTTTAATGTAATTTGTTTAACTGTAGGTTTATGTAATTTTTATGAATATCTATGTTTAACAAATGGCTCACAAATTGCCTGAAAATTTCACCACTGGCTCCAGCAAGCCAACTCCAGCATGCTGCTGCACCCCACATGTGAAGTAGATACACTGTTAGCTCCTTTATTTTTTTGTTTTACAAATGGGGAAACTGAGGTACAGGGAGGTTAAGTAACTTGCCCCCAAACCACTGATTGCTTCAACAGACATTTGCTTGCACTAATCTAGATACTGTGGCCACTGTGGGGAAAAAAGTGGCTGCAGATCCTGCCTTTGGGAGCACAAGGTCTAATGGAGGAGACATGTTAGTTACTTAAACATGCAAATGTGGCTCGGTGTGGTGGCTCACGCCTGTAATCCTAGCAATTTGGGAGGTCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGTCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTAGGTGTGCTGGTGCATGCCTGTAATCCCAGCTGCTCAGGAGGCTGAGGCACGAGAATCACTTGAATCTGGGAGGTGGAGGCTGCAGTGAGCCATGATCGTGCCACTATACTCCAGCCTGGGCAACAAGTGCAAAATTCTGTCAAAAAAAAAAAAAAAAAAGAGAGAGAGAGACAAAGAGAGAGAGAAAAGGAAGGAAGGAAGGAAAAAAAAAAGGCTGGTTGTGGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCCAAGGTGGGCGGATCACCTGAGGTCAGGAGTTTCAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTGATGATACAAACAATTAGCCGGGTGTGGTGGTGGGCGTCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGGGAGGTTGCAGGGAGCCGAGATCATGCCACTGCACTCCAGCCTTGGTGACAGAGGGAGACTCTGTCTCAAAACAAAAAATGAAACAAAACAAAAAATAAGAAAGAAAGTTGGGGAGTGTTCTTCACCCCAAATCCCCAGACTGTGATTCTCAGCACAGTGGATCCCACCGGCCAAACTCAGGGAACAGAAGTGGCCCCAGAAGCTACATCCATATATGAACAGCACCATCTGGTCGAAATTTCTGCGATGACGGAAATGTTCTCTATCTGGGCCATCCAACATAGTAGCCACTTCTCCCCTGTGGCTTCTGAATGTGCTTAGTGCAACTAGGAAATCCAATTTTTTTTTTAATTGTGGTAAAATACACATAGCATAAAATTCACCATTGTAATCATGTTTAAATGTATAGTTCAGTGGTATTAAATACTTTTATGTGGCTATGCAACCATCACCACCACCCATCTCCAGAACTTTCTCACCTTAACCAAACTGAAACTCTGCCCCCATGAAACAGTCACACTCATCCTCCTCCCCAACTCCTGGCACCTGCCATTTTACTT | ACAATGCACCCCCCTCTCCTTTGTTTTCTTCCGTTCAGGAAAGGTCCCAGATACCAAGGATGTGCGGTCAATTTCTCAGGGTTTCTGTTTTAGCATCTCCCGCATCATCAGTGAGAAAATCAAAGGAGGTTGCTATATTTCTCAGGCCATTGTTAAGGTGAGGGAAAAATGCCTTTTATTTAAGGCCAATGTCTTTTAAACAAACATCTTGCCAGAAGATATTAACCCATTTTTTTTATTTCAATTGTGATTTTAAAAAGAAAGAAATGAATCAAAAGGAATATGGTCATTTCCTCAATCTTGGGAATACACTGGCCAAAAAAAAAAAAAAAAACCTAAAACAAAAGTCTGTCTGGTATGAAAAGGTGATTTATAGACCCTTTTGGTCAATAAAGCCAAAAGGTTTTTTTGGTAGGTTTTTATCAACAACGAGCAAAACAAAACATATTGTACTTGCAGGTTTCACAAACACTCAAAGAAAGAGTCATAAGAACTGAAATTACAGCTTGTTTTCCTTCCCGCCCTCTCCACCCAGGGAAATACAATTTCCCACCCCAACACTCTCGCTTGGCTAATTCTCAAGTCTGAAGAGGAAGATACTTTACGTAAGCAGGTCAGCTCAAGGCCTCTTGATGTGTGTCTGTTTCTGATTTGTTTTTGTGTTGTTTTGTGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTTAAAACAAAACATAAAACCTCAATACAAAAACCAGGAAACAGATTTTTGCAACTCAGTTACGGCCCCAAAATAGCTCATGGAAGAAGCTCACAGTACGAACAGAAAGTCTGCGATGTGCGTAGGAAATCTGACTCTGTCGAAGAGAGAAAACCCTGCTATTTCTCACCCAAACGGCAGGAAATGGTTTGATTATACTGTCCTTCAGAGAACAGCAAAGCCCTGAGAATAATGCAGAAGCGAGTCTCTTCCTCCTGGAGACAGTATGTTCTGGGCTAATCTTGGCACACCACCAGGCTACAGGTCAGGGAAGACACGAAAGACCTTGGTATATCCTTTATGTGACAATGATGAAGCTACATCAGTGAGGACAGGCCACGTGGAGGATTTTAGGGAAAACCAAGGACTCTGTCCTTATTATATTTTCTTGTTCTGAAGCCAACCACAGAAAGCTTAGAACTGAGGTCCACAATGCCAGACTGGGTGCGGTGGCTCACACCTGCAATCACAGCACTTTGAGAGGCCAAGGCAGGTGGACCACCTGAGGTTGGGAGTTCGAGACCAGCCTGACCAACATGGCGAAACCCTGTCTCTATTAAAAATACAAAAATTAGCCGGGCATGGTGGCAGGCACCTGCAGTCCCAGCTGCTTGGGAGGCTGAGGCAGGAAAATCGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAGGTTCGTGCCACTGCACTCCAGCTTGGGAGTCTTGCGGCAAGACTCCATCTCAAAAAAAAAAAAAAAGAATGGTGGGCACAATGCCAGAAGTATATACTATCTGGTCCTTTAGAGAAAAAGGTAGTCAACTCCCACTCCCAAGCCCAGGACCAAAACAGGGTGCAAAAGTAGCATCTGAGAGCAGAGACCTCACTCATAGCCAATTAACCCTGGGTTTGCACACAGTTTTAACAAGCGGCATCGTCACAACCAACCCCACGTTCCTTCTCCTCTCGGCTGCCCCCCAGACCCACATCCAGAACTCACTTGCTGGAATTCATCGTGTACCCGGAGGGACACTCAGGGATGCACTTGTTGTTGTGAATGACGTACTGGTGGCAGCCCTGCCTCCGCGAGTTCTTGCATTTGTGGTGCAGGTCCTGGCAGAAGCTGAAGTTCACACAGCGCCAGTCCTGGAAGTGGTAGTACGGGGGCGGGCAGGTCTCCACACACCTGCCGTCCAGGTAGAAGTTGCGGCAGGCCACGCACTTGGTGGGGTCGTCGGGCTGAGAACAGTTGCCCAGGCACTCGCTGTGGCAACAGAGGCCTTCGGCGGTGCAGCCGTGTGACTTACAGATGGTCGGGCAAACTGGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGGGAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATGGCTTTGTCCAATTCCTGTCTGCATATGCAGCAATTCTGGATCAGACAGTGAAAGCCAACCAAACACTAACAGTAAAAGCGGCACGTCTACATCATTACCCACATGTCAGACACATCTATTAACTGGTTTAAGCCTCCAAACCATTGGTGAGCTTGTAAATGTTTAACAGCTGCCTGAGGGAGGGGCCCAGGGAGGCCCAGATTTATATAGCATTTGCCGATTTCCATGGTGTAAATATTCCTACCAGTGGTGGATTTCAGGCCACCAACATGAAGTTACTAAACATAAGCTGACAAAAGATACACAGTAGCATTCCTCTAAGTAGTATTTATAAGTATACACAAAATGTATCTACTATTGACACAAAAGTAGTAAATAACCTCAACAGCACAAATAATAGGAAAACATCGTATGATATTAGGAGGTGGTGAGTTTTGAGTATTTGTTACTTTTAAAAAGCTTTGTTAATTTAAAAACTTTTGTTTTTAATGTAATTTGTTTAACTGTAGGTTTATGTAATTTTTATGAATATCTATGTTTAACAAATGGCTCACAAATTGCCTGAAAATTTCACCACTGGCTCCAGCAAGCCAACTCCAGCATGCTGCTGCACCCCACATGTGAAGTAGATACACTGTTAGCTCCTTTATTTTTTTGTTTTACAAATGGGGAAACTGAGGTACAGGGAGGTTAAGTAACTTGCCCCCAAACCACTGATTGCTTCAACAGACATTTGCTTGCACTAATCTAGATACTGTGGCCACTGTGGGGAAAAAAGTGGCTGCAGATCCTGCCTTTGGGAGCACAAGGTCTAATGGAGGAGACATGTTAGTTACTTAAACATGCAAATGTGGCTCGGTGTGGTGGCTCACGCCTGTAATCCTAGCAATTTGGGAGGTCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGTCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTAGGTGTGCTGGTGCATGCCTGTAATCCCAGCTGCTCAGGAGGCTGAGGCACGAGAATCACTTGAATCTGGGAGGTGGAGGCTGCAGTGAGCCATGATCGTGCCACTATACTCCAGCCTGGGCAACAAGTGCAAAATTCTGTCAAAAAAAAAAAAAAAAAAGAGAGAGAGAGACAAAGAGAGAGAGAAAAGGAAGGAAGGAAGGAAAAAAAAAAGGCTGGTTGTGGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCCAAGGTGGGCGGATCACCTGAGGTCAGGAGTTTCAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTGATGATACAAACAATTAGCCGGGTGTGGTGGTGGGCGTCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGGGAGGTTGCAGGGAGCCGAGATCATGCCACTGCACTCCAGCCTTGGTGACAGAGGGAGACTCTGTCTCAAAACAAAAAATGAAACAAAACAAAAAATAAGAAAGAAAGTTGGGGAGTGTTCTTCACCCCAAATCCCCAGACTGTGATTCTCAGCACAGTGGATCCCACCGGCCAAACTCAGGGAACAGAAGTGGCCCCAGAAGCTACATCCATATATGAACAGCACCATCTGGTCGAAATTTCTGCGATGACGGAAATGTTCTCTATCTGGGCCATCCAACATAGTAGCCACTTCTCCCCTGTGGCTTCTGAATGTGCTTAGTGCAACTAGGAAATCCAATTTTTTTTTTAATTGTGGTAAAATACACATAGCATAAAATTCACCATTGTAATCATGTTTAAATGTATAGTTCAGTGGTATTAAATACTTTTATGTGGCTATGCAACCATCACCACCACCCATCTCCAGAACTTTCTCACCTTAACCAAACTGAAACTCTGCCCCCATGAAACAGTCACACTCATCCTCCTCCCCAACTCC | benign | 294,947 |
Clinical classification of chromosome 19, position 7184640, gene INSR (insulin receptor): benign or pathogenic? Disease(s) if pathogenic? | benign | ACAATGCACCCCCCTCTCCTTTGTTTTCTTCCGTTCAGGAAAGGTCCCAGATACCAAGGATGTGCGGTCAATTTCTCAGGGTTTCTGTTTTAGCATCTCCCGCATCATCAGTGAGAAAATCAAAGGAGGTTGCTATATTTCTCAGGCCATTGTTAAGGTGAGGGAAAAATGCCTTTTATTTAAGGCCAATGTCTTTTAAACAAACATCTTGCCAGAAGATATTAACCCATTTTTTTTATTTCAATTGTGATTTTAAAAAGAAAGAAATGAATCAAAAGGAATATGGTCATTTCCTCAATCTTGGGAATACACTGGCCAAAAAAAAAAAAAAAAACCTAAAACAAAAGTCTGTCTGGTATGAAAAGGTGATTTATAGACCCTTTTGGTCAATAAAGCCAAAAGGTTTTTTTGGTAGGTTTTTATCAACAACGAGCAAAACAAAACATATTGTACTTGCAGGTTTCACAAACACTCAAAGAAAGAGTCATAAGAACTGAAATTACAGCTTGTTTTCCTTCCCGCCCTCTCCACCCAGGGAAATACAATTTCCCACCCCAACACTCTCGCTTGGCTAATTCTCAAGTCTGAAGAGGAAGATACTTTACGTAAGCAGGTCAGCTCAAGGCCTCTTGATGTGTGTCTGTTTCTGATTTGTTTTTGTGTTGTTTTGTGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTTAAAACAAAACATAAAACCTCAATACAAAAACCAGGAAACAGATTTTTGCAACTCAGTTACGGCCCCAAAATAGCTCATGGAAGAAGCTCACAGTACGAACAGAAAGTCTGCGATGTGCGTAGGAAATCTGACTCTGTCGAAGAGAGAAAACCCTGCTATTTCTCACCCAAACGGCAGGAAATGGTTTGATTATACTGTCCTTCAGAGAACAGCAAAGCCCTGAGAATAATGCAGAAGCGAGTCTCTTCCTCCTGGAGACAGTATGTTCTGGGCTAATCTTGGCACACCACCAGGCTACAGGTCAGGGAAGACACGAAAGACCTTGGTATATCCTTTATGTGACAATGATGAAGCTACATCAGTGAGGACAGGCCACGTGGAGGATTTTAGGGAAAACCAAGGACTCTGTCCTTATTATATTTTCTTGTTCTGAAGCCAACCACAGAAAGCTTAGAACTGAGGTCCACAATGCCAGACTGGGTGCGGTGGCTCACACCTGCAATCACAGCACTTTGAGAGGCCAAGGCAGGTGGACCACCTGAGGTTGGGAGTTCGAGACCAGCCTGACCAACATGGCGAAACCCTGTCTCTATTAAAAATACAAAAATTAGCCGGGCATGGTGGCAGGCACCTGCAGTCCCAGCTGCTTGGGAGGCTGAGGCAGGAAAATCGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAGGTTCGTGCCACTGCACTCCAGCTTGGGAGTCTTGCGGCAAGACTCCATCTCAAAAAAAAAAAAAAAGAATGGTGGGCACAATGCCAGAAGTATATACTATCTGGTCCTTTAGAGAAAAAGGTAGTCAACTCCCACTCCCAAGCCCAGGACCAAAACAGGGTGCAAAAGTAGCATCTGAGAGCAGAGACCTCACTCATAGCCAATTAACCCTGGGTTTGCACACAGTTTTAACAAGCGGCATCGTCACAACCAACCCCACGTTCCTTCTCCTCTCGGCTGCCCCCCAGACCCACATCCAGAACTCACTTGCTGGAATTCATCGTGTACCCGGAGGGACACTCAGGGATGCACTTGTTGTTGTGAATGACGTACTGGTGGCAGCCCTGCCTCCGCGAGTTCTTGCATTTGTGGTGCAGGTCCTGGCAGAAGCTGAAGTTCACACAGCGCCAGTCCTGGAAGTGGTAGTACGGGGGCGGGCAGGTCTCCACACACCTGCCGTCCAGGTAGAAGTTGCGGCAGGCCACGCACTTGGTGGGGTCGTCGGGCTGAGAACAGTTGCCCAGGCACTCGCTGTGGCAACAGAGGCCTTCGGCGGTGCAGCCGTGTGACTTACAGATGGTCGGGCAAACTGGAGAGAGAGAGAGAGAGAGAGGGAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATGGCTTTGTCCAATTCCTGTCTGCATATGCAGCAATTCTGGATCAGACAGTGAAAGCCAACCAAACACTAACAGTAAAAGCGGCACGTCTACATCATTACCCACATGTCAGACACATCTATTAACTGGTTTAAGCCTCCAAACCATTGGTGAGCTTGTAAATGTTTAACAGCTGCCTGAGGGAGGGGCCCAGGGAGGCCCAGATTTATATAGCATTTGCCGATTTCCATGGTGTAAATATTCCTACCAGTGGTGGATTTCAGGCCACCAACATGAAGTTACTAAACATAAGCTGACAAAAGATACACAGTAGCATTCCTCTAAGTAGTATTTATAAGTATACACAAAATGTATCTACTATTGACACAAAAGTAGTAAATAACCTCAACAGCACAAATAATAGGAAAACATCGTATGATATTAGGAGGTGGTGAGTTTTGAGTATTTGTTACTTTTAAAAAGCTTTGTTAATTTAAAAACTTTTGTTTTTAATGTAATTTGTTTAACTGTAGGTTTATGTAATTTTTATGAATATCTATGTTTAACAAATGGCTCACAAATTGCCTGAAAATTTCACCACTGGCTCCAGCAAGCCAACTCCAGCATGCTGCTGCACCCCACATGTGAAGTAGATACACTGTTAGCTCCTTTATTTTTTTGTTTTACAAATGGGGAAACTGAGGTACAGGGAGGTTAAGTAACTTGCCCCCAAACCACTGATTGCTTCAACAGACATTTGCTTGCACTAATCTAGATACTGTGGCCACTGTGGGGAAAAAAGTGGCTGCAGATCCTGCCTTTGGGAGCACAAGGTCTAATGGAGGAGACATGTTAGTTACTTAAACATGCAAATGTGGCTCGGTGTGGTGGCTCACGCCTGTAATCCTAGCAATTTGGGAGGTCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGTCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTAGGTGTGCTGGTGCATGCCTGTAATCCCAGCTGCTCAGGAGGCTGAGGCACGAGAATCACTTGAATCTGGGAGGTGGAGGCTGCAGTGAGCCATGATCGTGCCACTATACTCCAGCCTGGGCAACAAGTGCAAAATTCTGTCAAAAAAAAAAAAAAAAAAGAGAGAGAGAGACAAAGAGAGAGAGAAAAGGAAGGAAGGAAGGAAAAAAAAAAGGCTGGTTGTGGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCCAAGGTGGGCGGATCACCTGAGGTCAGGAGTTTCAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTGATGATACAAACAATTAGCCGGGTGTGGTGGTGGGCGTCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGGGAGGTTGCAGGGAGCCGAGATCATGCCACTGCACTCCAGCCTTGGTGACAGAGGGAGACTCTGTCTCAAAACAAAAAATGAAACAAAACAAAAAATAAGAAAGAAAGTTGGGGAGTGTTCTTCACCCCAAATCCCCAGACTGTGATTCTCAGCACAGTGGATCCCACCGGCCAAACTCAGGGAACAGAAGTGGCCCCAGAAGCTACATCCATATATGAACAGCACCATCTGGTCGAAATTTCTGCGATGACGGAAATGTTCTCTATCTGGGCCATCCAACATAGTAGCCACTTCTCCCCTGTGGCTTCTGAATGTGCTTAGTGCAACTAGGAAATCCAATTTTTTTTTTAATTGTGGTAAAATACACATAGCATAAAATTCACCATTGTAATCATGTTTAAATGTATAGTTCAGTGGTATTAAATACTTTTATGTGGCTATGCAACCATCACCACCACCCATCTCCAGAACTTTCTCACCTTAACCAAACTGAAACTCTGCCCCCATGAAACAGTCACACTCATCCTCCTCCCCAACTCCTGGCACCTGCCATTTTACTT | ACAATGCACCCCCCTCTCCTTTGTTTTCTTCCGTTCAGGAAAGGTCCCAGATACCAAGGATGTGCGGTCAATTTCTCAGGGTTTCTGTTTTAGCATCTCCCGCATCATCAGTGAGAAAATCAAAGGAGGTTGCTATATTTCTCAGGCCATTGTTAAGGTGAGGGAAAAATGCCTTTTATTTAAGGCCAATGTCTTTTAAACAAACATCTTGCCAGAAGATATTAACCCATTTTTTTTATTTCAATTGTGATTTTAAAAAGAAAGAAATGAATCAAAAGGAATATGGTCATTTCCTCAATCTTGGGAATACACTGGCCAAAAAAAAAAAAAAAAACCTAAAACAAAAGTCTGTCTGGTATGAAAAGGTGATTTATAGACCCTTTTGGTCAATAAAGCCAAAAGGTTTTTTTGGTAGGTTTTTATCAACAACGAGCAAAACAAAACATATTGTACTTGCAGGTTTCACAAACACTCAAAGAAAGAGTCATAAGAACTGAAATTACAGCTTGTTTTCCTTCCCGCCCTCTCCACCCAGGGAAATACAATTTCCCACCCCAACACTCTCGCTTGGCTAATTCTCAAGTCTGAAGAGGAAGATACTTTACGTAAGCAGGTCAGCTCAAGGCCTCTTGATGTGTGTCTGTTTCTGATTTGTTTTTGTGTTGTTTTGTGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTTAAAACAAAACATAAAACCTCAATACAAAAACCAGGAAACAGATTTTTGCAACTCAGTTACGGCCCCAAAATAGCTCATGGAAGAAGCTCACAGTACGAACAGAAAGTCTGCGATGTGCGTAGGAAATCTGACTCTGTCGAAGAGAGAAAACCCTGCTATTTCTCACCCAAACGGCAGGAAATGGTTTGATTATACTGTCCTTCAGAGAACAGCAAAGCCCTGAGAATAATGCAGAAGCGAGTCTCTTCCTCCTGGAGACAGTATGTTCTGGGCTAATCTTGGCACACCACCAGGCTACAGGTCAGGGAAGACACGAAAGACCTTGGTATATCCTTTATGTGACAATGATGAAGCTACATCAGTGAGGACAGGCCACGTGGAGGATTTTAGGGAAAACCAAGGACTCTGTCCTTATTATATTTTCTTGTTCTGAAGCCAACCACAGAAAGCTTAGAACTGAGGTCCACAATGCCAGACTGGGTGCGGTGGCTCACACCTGCAATCACAGCACTTTGAGAGGCCAAGGCAGGTGGACCACCTGAGGTTGGGAGTTCGAGACCAGCCTGACCAACATGGCGAAACCCTGTCTCTATTAAAAATACAAAAATTAGCCGGGCATGGTGGCAGGCACCTGCAGTCCCAGCTGCTTGGGAGGCTGAGGCAGGAAAATCGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAGGTTCGTGCCACTGCACTCCAGCTTGGGAGTCTTGCGGCAAGACTCCATCTCAAAAAAAAAAAAAAAGAATGGTGGGCACAATGCCAGAAGTATATACTATCTGGTCCTTTAGAGAAAAAGGTAGTCAACTCCCACTCCCAAGCCCAGGACCAAAACAGGGTGCAAAAGTAGCATCTGAGAGCAGAGACCTCACTCATAGCCAATTAACCCTGGGTTTGCACACAGTTTTAACAAGCGGCATCGTCACAACCAACCCCACGTTCCTTCTCCTCTCGGCTGCCCCCCAGACCCACATCCAGAACTCACTTGCTGGAATTCATCGTGTACCCGGAGGGACACTCAGGGATGCACTTGTTGTTGTGAATGACGTACTGGTGGCAGCCCTGCCTCCGCGAGTTCTTGCATTTGTGGTGCAGGTCCTGGCAGAAGCTGAAGTTCACACAGCGCCAGTCCTGGAAGTGGTAGTACGGGGGCGGGCAGGTCTCCACACACCTGCCGTCCAGGTAGAAGTTGCGGCAGGCCACGCACTTGGTGGGGTCGTCGGGCTGAGAACAGTTGCCCAGGCACTCGCTGTGGCAACAGAGGCCTTCGGCGGTGCAGCCGTGTGACTTACAGATGGTCGGGCAAACTGGAGAGAGAGAGAGAGAGAGGGAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATGGCTTTGTCCAATTCCTGTCTGCATATGCAGCAATTCTGGATCAGACAGTGAAAGCCAACCAAACACTAACAGTAAAAGCGGCACGTCTACATCATTACCCACATGTCAGACACATCTATTAACTGGTTTAAGCCTCCAAACCATTGGTGAGCTTGTAAATGTTTAACAGCTGCCTGAGGGAGGGGCCCAGGGAGGCCCAGATTTATATAGCATTTGCCGATTTCCATGGTGTAAATATTCCTACCAGTGGTGGATTTCAGGCCACCAACATGAAGTTACTAAACATAAGCTGACAAAAGATACACAGTAGCATTCCTCTAAGTAGTATTTATAAGTATACACAAAATGTATCTACTATTGACACAAAAGTAGTAAATAACCTCAACAGCACAAATAATAGGAAAACATCGTATGATATTAGGAGGTGGTGAGTTTTGAGTATTTGTTACTTTTAAAAAGCTTTGTTAATTTAAAAACTTTTGTTTTTAATGTAATTTGTTTAACTGTAGGTTTATGTAATTTTTATGAATATCTATGTTTAACAAATGGCTCACAAATTGCCTGAAAATTTCACCACTGGCTCCAGCAAGCCAACTCCAGCATGCTGCTGCACCCCACATGTGAAGTAGATACACTGTTAGCTCCTTTATTTTTTTGTTTTACAAATGGGGAAACTGAGGTACAGGGAGGTTAAGTAACTTGCCCCCAAACCACTGATTGCTTCAACAGACATTTGCTTGCACTAATCTAGATACTGTGGCCACTGTGGGGAAAAAAGTGGCTGCAGATCCTGCCTTTGGGAGCACAAGGTCTAATGGAGGAGACATGTTAGTTACTTAAACATGCAAATGTGGCTCGGTGTGGTGGCTCACGCCTGTAATCCTAGCAATTTGGGAGGTCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGTCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTAGGTGTGCTGGTGCATGCCTGTAATCCCAGCTGCTCAGGAGGCTGAGGCACGAGAATCACTTGAATCTGGGAGGTGGAGGCTGCAGTGAGCCATGATCGTGCCACTATACTCCAGCCTGGGCAACAAGTGCAAAATTCTGTCAAAAAAAAAAAAAAAAAAGAGAGAGAGAGACAAAGAGAGAGAGAAAAGGAAGGAAGGAAGGAAAAAAAAAAGGCTGGTTGTGGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCCAAGGTGGGCGGATCACCTGAGGTCAGGAGTTTCAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTGATGATACAAACAATTAGCCGGGTGTGGTGGTGGGCGTCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGGGAGGTTGCAGGGAGCCGAGATCATGCCACTGCACTCCAGCCTTGGTGACAGAGGGAGACTCTGTCTCAAAACAAAAAATGAAACAAAACAAAAAATAAGAAAGAAAGTTGGGGAGTGTTCTTCACCCCAAATCCCCAGACTGTGATTCTCAGCACAGTGGATCCCACCGGCCAAACTCAGGGAACAGAAGTGGCCCCAGAAGCTACATCCATATATGAACAGCACCATCTGGTCGAAATTTCTGCGATGACGGAAATGTTCTCTATCTGGGCCATCCAACATAGTAGCCACTTCTCCCCTGTGGCTTCTGAATGTGCTTAGTGCAACTAGGAAATCCAATTTTTTTTTTAATTGTGGTAAAATACACATAGCATAAAATTCACCATTGTAATCATGTTTAAATGTATAGTTCAGTGGTATTAAATACTTTTATGTGGCTATGCAACCATCACCACCACCCATCTCCAGAACTTTCTCACCTTAACCAAACTGAAACTCTGCCCCCATGAAACAGTCACACTCATCCTCCTCCCCAACTCCTGGCACCTGCCATTTTACTTNN | benign | 294,948 |
Regarding the variant at chromosome 19 and position 7184640, affecting gene INSR (insulin receptor): benign or pathogenic? If pathogenic, what are the associated illness(es)? | benign | ACAATGCACCCCCCTCTCCTTTGTTTTCTTCCGTTCAGGAAAGGTCCCAGATACCAAGGATGTGCGGTCAATTTCTCAGGGTTTCTGTTTTAGCATCTCCCGCATCATCAGTGAGAAAATCAAAGGAGGTTGCTATATTTCTCAGGCCATTGTTAAGGTGAGGGAAAAATGCCTTTTATTTAAGGCCAATGTCTTTTAAACAAACATCTTGCCAGAAGATATTAACCCATTTTTTTTATTTCAATTGTGATTTTAAAAAGAAAGAAATGAATCAAAAGGAATATGGTCATTTCCTCAATCTTGGGAATACACTGGCCAAAAAAAAAAAAAAAAACCTAAAACAAAAGTCTGTCTGGTATGAAAAGGTGATTTATAGACCCTTTTGGTCAATAAAGCCAAAAGGTTTTTTTGGTAGGTTTTTATCAACAACGAGCAAAACAAAACATATTGTACTTGCAGGTTTCACAAACACTCAAAGAAAGAGTCATAAGAACTGAAATTACAGCTTGTTTTCCTTCCCGCCCTCTCCACCCAGGGAAATACAATTTCCCACCCCAACACTCTCGCTTGGCTAATTCTCAAGTCTGAAGAGGAAGATACTTTACGTAAGCAGGTCAGCTCAAGGCCTCTTGATGTGTGTCTGTTTCTGATTTGTTTTTGTGTTGTTTTGTGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTTAAAACAAAACATAAAACCTCAATACAAAAACCAGGAAACAGATTTTTGCAACTCAGTTACGGCCCCAAAATAGCTCATGGAAGAAGCTCACAGTACGAACAGAAAGTCTGCGATGTGCGTAGGAAATCTGACTCTGTCGAAGAGAGAAAACCCTGCTATTTCTCACCCAAACGGCAGGAAATGGTTTGATTATACTGTCCTTCAGAGAACAGCAAAGCCCTGAGAATAATGCAGAAGCGAGTCTCTTCCTCCTGGAGACAGTATGTTCTGGGCTAATCTTGGCACACCACCAGGCTACAGGTCAGGGAAGACACGAAAGACCTTGGTATATCCTTTATGTGACAATGATGAAGCTACATCAGTGAGGACAGGCCACGTGGAGGATTTTAGGGAAAACCAAGGACTCTGTCCTTATTATATTTTCTTGTTCTGAAGCCAACCACAGAAAGCTTAGAACTGAGGTCCACAATGCCAGACTGGGTGCGGTGGCTCACACCTGCAATCACAGCACTTTGAGAGGCCAAGGCAGGTGGACCACCTGAGGTTGGGAGTTCGAGACCAGCCTGACCAACATGGCGAAACCCTGTCTCTATTAAAAATACAAAAATTAGCCGGGCATGGTGGCAGGCACCTGCAGTCCCAGCTGCTTGGGAGGCTGAGGCAGGAAAATCGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAGGTTCGTGCCACTGCACTCCAGCTTGGGAGTCTTGCGGCAAGACTCCATCTCAAAAAAAAAAAAAAAGAATGGTGGGCACAATGCCAGAAGTATATACTATCTGGTCCTTTAGAGAAAAAGGTAGTCAACTCCCACTCCCAAGCCCAGGACCAAAACAGGGTGCAAAAGTAGCATCTGAGAGCAGAGACCTCACTCATAGCCAATTAACCCTGGGTTTGCACACAGTTTTAACAAGCGGCATCGTCACAACCAACCCCACGTTCCTTCTCCTCTCGGCTGCCCCCCAGACCCACATCCAGAACTCACTTGCTGGAATTCATCGTGTACCCGGAGGGACACTCAGGGATGCACTTGTTGTTGTGAATGACGTACTGGTGGCAGCCCTGCCTCCGCGAGTTCTTGCATTTGTGGTGCAGGTCCTGGCAGAAGCTGAAGTTCACACAGCGCCAGTCCTGGAAGTGGTAGTACGGGGGCGGGCAGGTCTCCACACACCTGCCGTCCAGGTAGAAGTTGCGGCAGGCCACGCACTTGGTGGGGTCGTCGGGCTGAGAACAGTTGCCCAGGCACTCGCTGTGGCAACAGAGGCCTTCGGCGGTGCAGCCGTGTGACTTACAGATGGTCGGGCAAACTGGAGAGAGAGAGAGAGAGAGAGGGAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATGGCTTTGTCCAATTCCTGTCTGCATATGCAGCAATTCTGGATCAGACAGTGAAAGCCAACCAAACACTAACAGTAAAAGCGGCACGTCTACATCATTACCCACATGTCAGACACATCTATTAACTGGTTTAAGCCTCCAAACCATTGGTGAGCTTGTAAATGTTTAACAGCTGCCTGAGGGAGGGGCCCAGGGAGGCCCAGATTTATATAGCATTTGCCGATTTCCATGGTGTAAATATTCCTACCAGTGGTGGATTTCAGGCCACCAACATGAAGTTACTAAACATAAGCTGACAAAAGATACACAGTAGCATTCCTCTAAGTAGTATTTATAAGTATACACAAAATGTATCTACTATTGACACAAAAGTAGTAAATAACCTCAACAGCACAAATAATAGGAAAACATCGTATGATATTAGGAGGTGGTGAGTTTTGAGTATTTGTTACTTTTAAAAAGCTTTGTTAATTTAAAAACTTTTGTTTTTAATGTAATTTGTTTAACTGTAGGTTTATGTAATTTTTATGAATATCTATGTTTAACAAATGGCTCACAAATTGCCTGAAAATTTCACCACTGGCTCCAGCAAGCCAACTCCAGCATGCTGCTGCACCCCACATGTGAAGTAGATACACTGTTAGCTCCTTTATTTTTTTGTTTTACAAATGGGGAAACTGAGGTACAGGGAGGTTAAGTAACTTGCCCCCAAACCACTGATTGCTTCAACAGACATTTGCTTGCACTAATCTAGATACTGTGGCCACTGTGGGGAAAAAAGTGGCTGCAGATCCTGCCTTTGGGAGCACAAGGTCTAATGGAGGAGACATGTTAGTTACTTAAACATGCAAATGTGGCTCGGTGTGGTGGCTCACGCCTGTAATCCTAGCAATTTGGGAGGTCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGTCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTAGGTGTGCTGGTGCATGCCTGTAATCCCAGCTGCTCAGGAGGCTGAGGCACGAGAATCACTTGAATCTGGGAGGTGGAGGCTGCAGTGAGCCATGATCGTGCCACTATACTCCAGCCTGGGCAACAAGTGCAAAATTCTGTCAAAAAAAAAAAAAAAAAAGAGAGAGAGAGACAAAGAGAGAGAGAAAAGGAAGGAAGGAAGGAAAAAAAAAAGGCTGGTTGTGGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCCAAGGTGGGCGGATCACCTGAGGTCAGGAGTTTCAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTGATGATACAAACAATTAGCCGGGTGTGGTGGTGGGCGTCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGGGAGGTTGCAGGGAGCCGAGATCATGCCACTGCACTCCAGCCTTGGTGACAGAGGGAGACTCTGTCTCAAAACAAAAAATGAAACAAAACAAAAAATAAGAAAGAAAGTTGGGGAGTGTTCTTCACCCCAAATCCCCAGACTGTGATTCTCAGCACAGTGGATCCCACCGGCCAAACTCAGGGAACAGAAGTGGCCCCAGAAGCTACATCCATATATGAACAGCACCATCTGGTCGAAATTTCTGCGATGACGGAAATGTTCTCTATCTGGGCCATCCAACATAGTAGCCACTTCTCCCCTGTGGCTTCTGAATGTGCTTAGTGCAACTAGGAAATCCAATTTTTTTTTTAATTGTGGTAAAATACACATAGCATAAAATTCACCATTGTAATCATGTTTAAATGTATAGTTCAGTGGTATTAAATACTTTTATGTGGCTATGCAACCATCACCACCACCCATCTCCAGAACTTTCTCACCTTAACCAAACTGAAACTCTGCCCCCATGAAACAGTCACACTCATCCTCCTCCCCAACTCCTGGCACCTGCCATTTTACTT | ACAATGCACCCCCCTCTCCTTTGTTTTCTTCCGTTCAGGAAAGGTCCCAGATACCAAGGATGTGCGGTCAATTTCTCAGGGTTTCTGTTTTAGCATCTCCCGCATCATCAGTGAGAAAATCAAAGGAGGTTGCTATATTTCTCAGGCCATTGTTAAGGTGAGGGAAAAATGCCTTTTATTTAAGGCCAATGTCTTTTAAACAAACATCTTGCCAGAAGATATTAACCCATTTTTTTTATTTCAATTGTGATTTTAAAAAGAAAGAAATGAATCAAAAGGAATATGGTCATTTCCTCAATCTTGGGAATACACTGGCCAAAAAAAAAAAAAAAAACCTAAAACAAAAGTCTGTCTGGTATGAAAAGGTGATTTATAGACCCTTTTGGTCAATAAAGCCAAAAGGTTTTTTTGGTAGGTTTTTATCAACAACGAGCAAAACAAAACATATTGTACTTGCAGGTTTCACAAACACTCAAAGAAAGAGTCATAAGAACTGAAATTACAGCTTGTTTTCCTTCCCGCCCTCTCCACCCAGGGAAATACAATTTCCCACCCCAACACTCTCGCTTGGCTAATTCTCAAGTCTGAAGAGGAAGATACTTTACGTAAGCAGGTCAGCTCAAGGCCTCTTGATGTGTGTCTGTTTCTGATTTGTTTTTGTGTTGTTTTGTGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTTAAAACAAAACATAAAACCTCAATACAAAAACCAGGAAACAGATTTTTGCAACTCAGTTACGGCCCCAAAATAGCTCATGGAAGAAGCTCACAGTACGAACAGAAAGTCTGCGATGTGCGTAGGAAATCTGACTCTGTCGAAGAGAGAAAACCCTGCTATTTCTCACCCAAACGGCAGGAAATGGTTTGATTATACTGTCCTTCAGAGAACAGCAAAGCCCTGAGAATAATGCAGAAGCGAGTCTCTTCCTCCTGGAGACAGTATGTTCTGGGCTAATCTTGGCACACCACCAGGCTACAGGTCAGGGAAGACACGAAAGACCTTGGTATATCCTTTATGTGACAATGATGAAGCTACATCAGTGAGGACAGGCCACGTGGAGGATTTTAGGGAAAACCAAGGACTCTGTCCTTATTATATTTTCTTGTTCTGAAGCCAACCACAGAAAGCTTAGAACTGAGGTCCACAATGCCAGACTGGGTGCGGTGGCTCACACCTGCAATCACAGCACTTTGAGAGGCCAAGGCAGGTGGACCACCTGAGGTTGGGAGTTCGAGACCAGCCTGACCAACATGGCGAAACCCTGTCTCTATTAAAAATACAAAAATTAGCCGGGCATGGTGGCAGGCACCTGCAGTCCCAGCTGCTTGGGAGGCTGAGGCAGGAAAATCGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAGGTTCGTGCCACTGCACTCCAGCTTGGGAGTCTTGCGGCAAGACTCCATCTCAAAAAAAAAAAAAAAGAATGGTGGGCACAATGCCAGAAGTATATACTATCTGGTCCTTTAGAGAAAAAGGTAGTCAACTCCCACTCCCAAGCCCAGGACCAAAACAGGGTGCAAAAGTAGCATCTGAGAGCAGAGACCTCACTCATAGCCAATTAACCCTGGGTTTGCACACAGTTTTAACAAGCGGCATCGTCACAACCAACCCCACGTTCCTTCTCCTCTCGGCTGCCCCCCAGACCCACATCCAGAACTCACTTGCTGGAATTCATCGTGTACCCGGAGGGACACTCAGGGATGCACTTGTTGTTGTGAATGACGTACTGGTGGCAGCCCTGCCTCCGCGAGTTCTTGCATTTGTGGTGCAGGTCCTGGCAGAAGCTGAAGTTCACACAGCGCCAGTCCTGGAAGTGGTAGTACGGGGGCGGGCAGGTCTCCACACACCTGCCGTCCAGGTAGAAGTTGCGGCAGGCCACGCACTTGGTGGGGTCGTCGGGCTGAGAACAGTTGCCCAGGCACTCGCTGTGGCAACAGAGGCCTTCGGCGGTGCAGCCGTGTGACTTACAGATGGTCGGGCAAACTGGAGAGAGAGAGAGAGAGGGAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATGGCTTTGTCCAATTCCTGTCTGCATATGCAGCAATTCTGGATCAGACAGTGAAAGCCAACCAAACACTAACAGTAAAAGCGGCACGTCTACATCATTACCCACATGTCAGACACATCTATTAACTGGTTTAAGCCTCCAAACCATTGGTGAGCTTGTAAATGTTTAACAGCTGCCTGAGGGAGGGGCCCAGGGAGGCCCAGATTTATATAGCATTTGCCGATTTCCATGGTGTAAATATTCCTACCAGTGGTGGATTTCAGGCCACCAACATGAAGTTACTAAACATAAGCTGACAAAAGATACACAGTAGCATTCCTCTAAGTAGTATTTATAAGTATACACAAAATGTATCTACTATTGACACAAAAGTAGTAAATAACCTCAACAGCACAAATAATAGGAAAACATCGTATGATATTAGGAGGTGGTGAGTTTTGAGTATTTGTTACTTTTAAAAAGCTTTGTTAATTTAAAAACTTTTGTTTTTAATGTAATTTGTTTAACTGTAGGTTTATGTAATTTTTATGAATATCTATGTTTAACAAATGGCTCACAAATTGCCTGAAAATTTCACCACTGGCTCCAGCAAGCCAACTCCAGCATGCTGCTGCACCCCACATGTGAAGTAGATACACTGTTAGCTCCTTTATTTTTTTGTTTTACAAATGGGGAAACTGAGGTACAGGGAGGTTAAGTAACTTGCCCCCAAACCACTGATTGCTTCAACAGACATTTGCTTGCACTAATCTAGATACTGTGGCCACTGTGGGGAAAAAAGTGGCTGCAGATCCTGCCTTTGGGAGCACAAGGTCTAATGGAGGAGACATGTTAGTTACTTAAACATGCAAATGTGGCTCGGTGTGGTGGCTCACGCCTGTAATCCTAGCAATTTGGGAGGTCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGTCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTAGGTGTGCTGGTGCATGCCTGTAATCCCAGCTGCTCAGGAGGCTGAGGCACGAGAATCACTTGAATCTGGGAGGTGGAGGCTGCAGTGAGCCATGATCGTGCCACTATACTCCAGCCTGGGCAACAAGTGCAAAATTCTGTCAAAAAAAAAAAAAAAAAAGAGAGAGAGAGACAAAGAGAGAGAGAAAAGGAAGGAAGGAAGGAAAAAAAAAAGGCTGGTTGTGGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCCAAGGTGGGCGGATCACCTGAGGTCAGGAGTTTCAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTGATGATACAAACAATTAGCCGGGTGTGGTGGTGGGCGTCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGGGAGGTTGCAGGGAGCCGAGATCATGCCACTGCACTCCAGCCTTGGTGACAGAGGGAGACTCTGTCTCAAAACAAAAAATGAAACAAAACAAAAAATAAGAAAGAAAGTTGGGGAGTGTTCTTCACCCCAAATCCCCAGACTGTGATTCTCAGCACAGTGGATCCCACCGGCCAAACTCAGGGAACAGAAGTGGCCCCAGAAGCTACATCCATATATGAACAGCACCATCTGGTCGAAATTTCTGCGATGACGGAAATGTTCTCTATCTGGGCCATCCAACATAGTAGCCACTTCTCCCCTGTGGCTTCTGAATGTGCTTAGTGCAACTAGGAAATCCAATTTTTTTTTTAATTGTGGTAAAATACACATAGCATAAAATTCACCATTGTAATCATGTTTAAATGTATAGTTCAGTGGTATTAAATACTTTTATGTGGCTATGCAACCATCACCACCACCCATCTCCAGAACTTTCTCACCTTAACCAAACTGAAACTCTGCCCCCATGAAACAGTCACACTCATCCTCCTCCCCAACTCCTGGCACCTGCCATTTTACTTNNNN | benign | 294,949 |
Does the variant impacting INSR (insulin receptor) on chromosome 19, position 7184643, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | benign | ATGCACCCCCCTCTCCTTTGTTTTCTTCCGTTCAGGAAAGGTCCCAGATACCAAGGATGTGCGGTCAATTTCTCAGGGTTTCTGTTTTAGCATCTCCCGCATCATCAGTGAGAAAATCAAAGGAGGTTGCTATATTTCTCAGGCCATTGTTAAGGTGAGGGAAAAATGCCTTTTATTTAAGGCCAATGTCTTTTAAACAAACATCTTGCCAGAAGATATTAACCCATTTTTTTTATTTCAATTGTGATTTTAAAAAGAAAGAAATGAATCAAAAGGAATATGGTCATTTCCTCAATCTTGGGAATACACTGGCCAAAAAAAAAAAAAAAAACCTAAAACAAAAGTCTGTCTGGTATGAAAAGGTGATTTATAGACCCTTTTGGTCAATAAAGCCAAAAGGTTTTTTTGGTAGGTTTTTATCAACAACGAGCAAAACAAAACATATTGTACTTGCAGGTTTCACAAACACTCAAAGAAAGAGTCATAAGAACTGAAATTACAGCTTGTTTTCCTTCCCGCCCTCTCCACCCAGGGAAATACAATTTCCCACCCCAACACTCTCGCTTGGCTAATTCTCAAGTCTGAAGAGGAAGATACTTTACGTAAGCAGGTCAGCTCAAGGCCTCTTGATGTGTGTCTGTTTCTGATTTGTTTTTGTGTTGTTTTGTGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTTAAAACAAAACATAAAACCTCAATACAAAAACCAGGAAACAGATTTTTGCAACTCAGTTACGGCCCCAAAATAGCTCATGGAAGAAGCTCACAGTACGAACAGAAAGTCTGCGATGTGCGTAGGAAATCTGACTCTGTCGAAGAGAGAAAACCCTGCTATTTCTCACCCAAACGGCAGGAAATGGTTTGATTATACTGTCCTTCAGAGAACAGCAAAGCCCTGAGAATAATGCAGAAGCGAGTCTCTTCCTCCTGGAGACAGTATGTTCTGGGCTAATCTTGGCACACCACCAGGCTACAGGTCAGGGAAGACACGAAAGACCTTGGTATATCCTTTATGTGACAATGATGAAGCTACATCAGTGAGGACAGGCCACGTGGAGGATTTTAGGGAAAACCAAGGACTCTGTCCTTATTATATTTTCTTGTTCTGAAGCCAACCACAGAAAGCTTAGAACTGAGGTCCACAATGCCAGACTGGGTGCGGTGGCTCACACCTGCAATCACAGCACTTTGAGAGGCCAAGGCAGGTGGACCACCTGAGGTTGGGAGTTCGAGACCAGCCTGACCAACATGGCGAAACCCTGTCTCTATTAAAAATACAAAAATTAGCCGGGCATGGTGGCAGGCACCTGCAGTCCCAGCTGCTTGGGAGGCTGAGGCAGGAAAATCGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAGGTTCGTGCCACTGCACTCCAGCTTGGGAGTCTTGCGGCAAGACTCCATCTCAAAAAAAAAAAAAAAGAATGGTGGGCACAATGCCAGAAGTATATACTATCTGGTCCTTTAGAGAAAAAGGTAGTCAACTCCCACTCCCAAGCCCAGGACCAAAACAGGGTGCAAAAGTAGCATCTGAGAGCAGAGACCTCACTCATAGCCAATTAACCCTGGGTTTGCACACAGTTTTAACAAGCGGCATCGTCACAACCAACCCCACGTTCCTTCTCCTCTCGGCTGCCCCCCAGACCCACATCCAGAACTCACTTGCTGGAATTCATCGTGTACCCGGAGGGACACTCAGGGATGCACTTGTTGTTGTGAATGACGTACTGGTGGCAGCCCTGCCTCCGCGAGTTCTTGCATTTGTGGTGCAGGTCCTGGCAGAAGCTGAAGTTCACACAGCGCCAGTCCTGGAAGTGGTAGTACGGGGGCGGGCAGGTCTCCACACACCTGCCGTCCAGGTAGAAGTTGCGGCAGGCCACGCACTTGGTGGGGTCGTCGGGCTGAGAACAGTTGCCCAGGCACTCGCTGTGGCAACAGAGGCCTTCGGCGGTGCAGCCGTGTGACTTACAGATGGTCGGGCAAACTGGAGAGAGAGAGAGAGAGAGAGGGAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATGGCTTTGTCCAATTCCTGTCTGCATATGCAGCAATTCTGGATCAGACAGTGAAAGCCAACCAAACACTAACAGTAAAAGCGGCACGTCTACATCATTACCCACATGTCAGACACATCTATTAACTGGTTTAAGCCTCCAAACCATTGGTGAGCTTGTAAATGTTTAACAGCTGCCTGAGGGAGGGGCCCAGGGAGGCCCAGATTTATATAGCATTTGCCGATTTCCATGGTGTAAATATTCCTACCAGTGGTGGATTTCAGGCCACCAACATGAAGTTACTAAACATAAGCTGACAAAAGATACACAGTAGCATTCCTCTAAGTAGTATTTATAAGTATACACAAAATGTATCTACTATTGACACAAAAGTAGTAAATAACCTCAACAGCACAAATAATAGGAAAACATCGTATGATATTAGGAGGTGGTGAGTTTTGAGTATTTGTTACTTTTAAAAAGCTTTGTTAATTTAAAAACTTTTGTTTTTAATGTAATTTGTTTAACTGTAGGTTTATGTAATTTTTATGAATATCTATGTTTAACAAATGGCTCACAAATTGCCTGAAAATTTCACCACTGGCTCCAGCAAGCCAACTCCAGCATGCTGCTGCACCCCACATGTGAAGTAGATACACTGTTAGCTCCTTTATTTTTTTGTTTTACAAATGGGGAAACTGAGGTACAGGGAGGTTAAGTAACTTGCCCCCAAACCACTGATTGCTTCAACAGACATTTGCTTGCACTAATCTAGATACTGTGGCCACTGTGGGGAAAAAAGTGGCTGCAGATCCTGCCTTTGGGAGCACAAGGTCTAATGGAGGAGACATGTTAGTTACTTAAACATGCAAATGTGGCTCGGTGTGGTGGCTCACGCCTGTAATCCTAGCAATTTGGGAGGTCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGTCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTAGGTGTGCTGGTGCATGCCTGTAATCCCAGCTGCTCAGGAGGCTGAGGCACGAGAATCACTTGAATCTGGGAGGTGGAGGCTGCAGTGAGCCATGATCGTGCCACTATACTCCAGCCTGGGCAACAAGTGCAAAATTCTGTCAAAAAAAAAAAAAAAAAAGAGAGAGAGAGACAAAGAGAGAGAGAAAAGGAAGGAAGGAAGGAAAAAAAAAAGGCTGGTTGTGGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCCAAGGTGGGCGGATCACCTGAGGTCAGGAGTTTCAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTGATGATACAAACAATTAGCCGGGTGTGGTGGTGGGCGTCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGGGAGGTTGCAGGGAGCCGAGATCATGCCACTGCACTCCAGCCTTGGTGACAGAGGGAGACTCTGTCTCAAAACAAAAAATGAAACAAAACAAAAAATAAGAAAGAAAGTTGGGGAGTGTTCTTCACCCCAAATCCCCAGACTGTGATTCTCAGCACAGTGGATCCCACCGGCCAAACTCAGGGAACAGAAGTGGCCCCAGAAGCTACATCCATATATGAACAGCACCATCTGGTCGAAATTTCTGCGATGACGGAAATGTTCTCTATCTGGGCCATCCAACATAGTAGCCACTTCTCCCCTGTGGCTTCTGAATGTGCTTAGTGCAACTAGGAAATCCAATTTTTTTTTTAATTGTGGTAAAATACACATAGCATAAAATTCACCATTGTAATCATGTTTAAATGTATAGTTCAGTGGTATTAAATACTTTTATGTGGCTATGCAACCATCACCACCACCCATCTCCAGAACTTTCTCACCTTAACCAAACTGAAACTCTGCCCCCATGAAACAGTCACACTCATCCTCCTCCCCAACTCCTGGCACCTGCCATTTTACTTTCT | ATGCACCCCCCTCTCCTTTGTTTTCTTCCGTTCAGGAAAGGTCCCAGATACCAAGGATGTGCGGTCAATTTCTCAGGGTTTCTGTTTTAGCATCTCCCGCATCATCAGTGAGAAAATCAAAGGAGGTTGCTATATTTCTCAGGCCATTGTTAAGGTGAGGGAAAAATGCCTTTTATTTAAGGCCAATGTCTTTTAAACAAACATCTTGCCAGAAGATATTAACCCATTTTTTTTATTTCAATTGTGATTTTAAAAAGAAAGAAATGAATCAAAAGGAATATGGTCATTTCCTCAATCTTGGGAATACACTGGCCAAAAAAAAAAAAAAAAACCTAAAACAAAAGTCTGTCTGGTATGAAAAGGTGATTTATAGACCCTTTTGGTCAATAAAGCCAAAAGGTTTTTTTGGTAGGTTTTTATCAACAACGAGCAAAACAAAACATATTGTACTTGCAGGTTTCACAAACACTCAAAGAAAGAGTCATAAGAACTGAAATTACAGCTTGTTTTCCTTCCCGCCCTCTCCACCCAGGGAAATACAATTTCCCACCCCAACACTCTCGCTTGGCTAATTCTCAAGTCTGAAGAGGAAGATACTTTACGTAAGCAGGTCAGCTCAAGGCCTCTTGATGTGTGTCTGTTTCTGATTTGTTTTTGTGTTGTTTTGTGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTTAAAACAAAACATAAAACCTCAATACAAAAACCAGGAAACAGATTTTTGCAACTCAGTTACGGCCCCAAAATAGCTCATGGAAGAAGCTCACAGTACGAACAGAAAGTCTGCGATGTGCGTAGGAAATCTGACTCTGTCGAAGAGAGAAAACCCTGCTATTTCTCACCCAAACGGCAGGAAATGGTTTGATTATACTGTCCTTCAGAGAACAGCAAAGCCCTGAGAATAATGCAGAAGCGAGTCTCTTCCTCCTGGAGACAGTATGTTCTGGGCTAATCTTGGCACACCACCAGGCTACAGGTCAGGGAAGACACGAAAGACCTTGGTATATCCTTTATGTGACAATGATGAAGCTACATCAGTGAGGACAGGCCACGTGGAGGATTTTAGGGAAAACCAAGGACTCTGTCCTTATTATATTTTCTTGTTCTGAAGCCAACCACAGAAAGCTTAGAACTGAGGTCCACAATGCCAGACTGGGTGCGGTGGCTCACACCTGCAATCACAGCACTTTGAGAGGCCAAGGCAGGTGGACCACCTGAGGTTGGGAGTTCGAGACCAGCCTGACCAACATGGCGAAACCCTGTCTCTATTAAAAATACAAAAATTAGCCGGGCATGGTGGCAGGCACCTGCAGTCCCAGCTGCTTGGGAGGCTGAGGCAGGAAAATCGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAGGTTCGTGCCACTGCACTCCAGCTTGGGAGTCTTGCGGCAAGACTCCATCTCAAAAAAAAAAAAAAAGAATGGTGGGCACAATGCCAGAAGTATATACTATCTGGTCCTTTAGAGAAAAAGGTAGTCAACTCCCACTCCCAAGCCCAGGACCAAAACAGGGTGCAAAAGTAGCATCTGAGAGCAGAGACCTCACTCATAGCCAATTAACCCTGGGTTTGCACACAGTTTTAACAAGCGGCATCGTCACAACCAACCCCACGTTCCTTCTCCTCTCGGCTGCCCCCCAGACCCACATCCAGAACTCACTTGCTGGAATTCATCGTGTACCCGGAGGGACACTCAGGGATGCACTTGTTGTTGTGAATGACGTACTGGTGGCAGCCCTGCCTCCGCGAGTTCTTGCATTTGTGGTGCAGGTCCTGGCAGAAGCTGAAGTTCACACAGCGCCAGTCCTGGAAGTGGTAGTACGGGGGCGGGCAGGTCTCCACACACCTGCCGTCCAGGTAGAAGTTGCGGCAGGCCACGCACTTGGTGGGGTCGTCGGGCTGAGAACAGTTGCCCAGGCACTCGCTGTGGCAACAGAGGCCTTCGGCGGTGCAGCCGTGTGACTTACAGATGGTCGGGCAAACTGGAGGAGAGAGAGAGAGAGAGGGAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATGGCTTTGTCCAATTCCTGTCTGCATATGCAGCAATTCTGGATCAGACAGTGAAAGCCAACCAAACACTAACAGTAAAAGCGGCACGTCTACATCATTACCCACATGTCAGACACATCTATTAACTGGTTTAAGCCTCCAAACCATTGGTGAGCTTGTAAATGTTTAACAGCTGCCTGAGGGAGGGGCCCAGGGAGGCCCAGATTTATATAGCATTTGCCGATTTCCATGGTGTAAATATTCCTACCAGTGGTGGATTTCAGGCCACCAACATGAAGTTACTAAACATAAGCTGACAAAAGATACACAGTAGCATTCCTCTAAGTAGTATTTATAAGTATACACAAAATGTATCTACTATTGACACAAAAGTAGTAAATAACCTCAACAGCACAAATAATAGGAAAACATCGTATGATATTAGGAGGTGGTGAGTTTTGAGTATTTGTTACTTTTAAAAAGCTTTGTTAATTTAAAAACTTTTGTTTTTAATGTAATTTGTTTAACTGTAGGTTTATGTAATTTTTATGAATATCTATGTTTAACAAATGGCTCACAAATTGCCTGAAAATTTCACCACTGGCTCCAGCAAGCCAACTCCAGCATGCTGCTGCACCCCACATGTGAAGTAGATACACTGTTAGCTCCTTTATTTTTTTGTTTTACAAATGGGGAAACTGAGGTACAGGGAGGTTAAGTAACTTGCCCCCAAACCACTGATTGCTTCAACAGACATTTGCTTGCACTAATCTAGATACTGTGGCCACTGTGGGGAAAAAAGTGGCTGCAGATCCTGCCTTTGGGAGCACAAGGTCTAATGGAGGAGACATGTTAGTTACTTAAACATGCAAATGTGGCTCGGTGTGGTGGCTCACGCCTGTAATCCTAGCAATTTGGGAGGTCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGTCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTAGGTGTGCTGGTGCATGCCTGTAATCCCAGCTGCTCAGGAGGCTGAGGCACGAGAATCACTTGAATCTGGGAGGTGGAGGCTGCAGTGAGCCATGATCGTGCCACTATACTCCAGCCTGGGCAACAAGTGCAAAATTCTGTCAAAAAAAAAAAAAAAAAAGAGAGAGAGAGACAAAGAGAGAGAGAAAAGGAAGGAAGGAAGGAAAAAAAAAAGGCTGGTTGTGGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCCAAGGTGGGCGGATCACCTGAGGTCAGGAGTTTCAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTGATGATACAAACAATTAGCCGGGTGTGGTGGTGGGCGTCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGGGAGGTTGCAGGGAGCCGAGATCATGCCACTGCACTCCAGCCTTGGTGACAGAGGGAGACTCTGTCTCAAAACAAAAAATGAAACAAAACAAAAAATAAGAAAGAAAGTTGGGGAGTGTTCTTCACCCCAAATCCCCAGACTGTGATTCTCAGCACAGTGGATCCCACCGGCCAAACTCAGGGAACAGAAGTGGCCCCAGAAGCTACATCCATATATGAACAGCACCATCTGGTCGAAATTTCTGCGATGACGGAAATGTTCTCTATCTGGGCCATCCAACATAGTAGCCACTTCTCCCCTGTGGCTTCTGAATGTGCTTAGTGCAACTAGGAAATCCAATTTTTTTTTTAATTGTGGTAAAATACACATAGCATAAAATTCACCATTGTAATCATGTTTAAATGTATAGTTCAGTGGTATTAAATACTTTTATGTGGCTATGCAACCATCACCACCACCCATCTCCAGAACTTTCTCACCTTAACCAAACTGAAACTCTGCCCCCATGAAACAGTCACACTCATCCTCCTCCCCAACTCCTGGCACCTGCCATTTTACTTTCTN | benign | 294,950 |
Mutation at chromosome 19, position 7184644, within INSR (insulin receptor): benign or pathogenic? If pathogenic, indicate the disease(s). | benign | TGCACCCCCCTCTCCTTTGTTTTCTTCCGTTCAGGAAAGGTCCCAGATACCAAGGATGTGCGGTCAATTTCTCAGGGTTTCTGTTTTAGCATCTCCCGCATCATCAGTGAGAAAATCAAAGGAGGTTGCTATATTTCTCAGGCCATTGTTAAGGTGAGGGAAAAATGCCTTTTATTTAAGGCCAATGTCTTTTAAACAAACATCTTGCCAGAAGATATTAACCCATTTTTTTTATTTCAATTGTGATTTTAAAAAGAAAGAAATGAATCAAAAGGAATATGGTCATTTCCTCAATCTTGGGAATACACTGGCCAAAAAAAAAAAAAAAAACCTAAAACAAAAGTCTGTCTGGTATGAAAAGGTGATTTATAGACCCTTTTGGTCAATAAAGCCAAAAGGTTTTTTTGGTAGGTTTTTATCAACAACGAGCAAAACAAAACATATTGTACTTGCAGGTTTCACAAACACTCAAAGAAAGAGTCATAAGAACTGAAATTACAGCTTGTTTTCCTTCCCGCCCTCTCCACCCAGGGAAATACAATTTCCCACCCCAACACTCTCGCTTGGCTAATTCTCAAGTCTGAAGAGGAAGATACTTTACGTAAGCAGGTCAGCTCAAGGCCTCTTGATGTGTGTCTGTTTCTGATTTGTTTTTGTGTTGTTTTGTGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTTAAAACAAAACATAAAACCTCAATACAAAAACCAGGAAACAGATTTTTGCAACTCAGTTACGGCCCCAAAATAGCTCATGGAAGAAGCTCACAGTACGAACAGAAAGTCTGCGATGTGCGTAGGAAATCTGACTCTGTCGAAGAGAGAAAACCCTGCTATTTCTCACCCAAACGGCAGGAAATGGTTTGATTATACTGTCCTTCAGAGAACAGCAAAGCCCTGAGAATAATGCAGAAGCGAGTCTCTTCCTCCTGGAGACAGTATGTTCTGGGCTAATCTTGGCACACCACCAGGCTACAGGTCAGGGAAGACACGAAAGACCTTGGTATATCCTTTATGTGACAATGATGAAGCTACATCAGTGAGGACAGGCCACGTGGAGGATTTTAGGGAAAACCAAGGACTCTGTCCTTATTATATTTTCTTGTTCTGAAGCCAACCACAGAAAGCTTAGAACTGAGGTCCACAATGCCAGACTGGGTGCGGTGGCTCACACCTGCAATCACAGCACTTTGAGAGGCCAAGGCAGGTGGACCACCTGAGGTTGGGAGTTCGAGACCAGCCTGACCAACATGGCGAAACCCTGTCTCTATTAAAAATACAAAAATTAGCCGGGCATGGTGGCAGGCACCTGCAGTCCCAGCTGCTTGGGAGGCTGAGGCAGGAAAATCGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAGGTTCGTGCCACTGCACTCCAGCTTGGGAGTCTTGCGGCAAGACTCCATCTCAAAAAAAAAAAAAAAGAATGGTGGGCACAATGCCAGAAGTATATACTATCTGGTCCTTTAGAGAAAAAGGTAGTCAACTCCCACTCCCAAGCCCAGGACCAAAACAGGGTGCAAAAGTAGCATCTGAGAGCAGAGACCTCACTCATAGCCAATTAACCCTGGGTTTGCACACAGTTTTAACAAGCGGCATCGTCACAACCAACCCCACGTTCCTTCTCCTCTCGGCTGCCCCCCAGACCCACATCCAGAACTCACTTGCTGGAATTCATCGTGTACCCGGAGGGACACTCAGGGATGCACTTGTTGTTGTGAATGACGTACTGGTGGCAGCCCTGCCTCCGCGAGTTCTTGCATTTGTGGTGCAGGTCCTGGCAGAAGCTGAAGTTCACACAGCGCCAGTCCTGGAAGTGGTAGTACGGGGGCGGGCAGGTCTCCACACACCTGCCGTCCAGGTAGAAGTTGCGGCAGGCCACGCACTTGGTGGGGTCGTCGGGCTGAGAACAGTTGCCCAGGCACTCGCTGTGGCAACAGAGGCCTTCGGCGGTGCAGCCGTGTGACTTACAGATGGTCGGGCAAACTGGAGAGAGAGAGAGAGAGAGAGGGAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATGGCTTTGTCCAATTCCTGTCTGCATATGCAGCAATTCTGGATCAGACAGTGAAAGCCAACCAAACACTAACAGTAAAAGCGGCACGTCTACATCATTACCCACATGTCAGACACATCTATTAACTGGTTTAAGCCTCCAAACCATTGGTGAGCTTGTAAATGTTTAACAGCTGCCTGAGGGAGGGGCCCAGGGAGGCCCAGATTTATATAGCATTTGCCGATTTCCATGGTGTAAATATTCCTACCAGTGGTGGATTTCAGGCCACCAACATGAAGTTACTAAACATAAGCTGACAAAAGATACACAGTAGCATTCCTCTAAGTAGTATTTATAAGTATACACAAAATGTATCTACTATTGACACAAAAGTAGTAAATAACCTCAACAGCACAAATAATAGGAAAACATCGTATGATATTAGGAGGTGGTGAGTTTTGAGTATTTGTTACTTTTAAAAAGCTTTGTTAATTTAAAAACTTTTGTTTTTAATGTAATTTGTTTAACTGTAGGTTTATGTAATTTTTATGAATATCTATGTTTAACAAATGGCTCACAAATTGCCTGAAAATTTCACCACTGGCTCCAGCAAGCCAACTCCAGCATGCTGCTGCACCCCACATGTGAAGTAGATACACTGTTAGCTCCTTTATTTTTTTGTTTTACAAATGGGGAAACTGAGGTACAGGGAGGTTAAGTAACTTGCCCCCAAACCACTGATTGCTTCAACAGACATTTGCTTGCACTAATCTAGATACTGTGGCCACTGTGGGGAAAAAAGTGGCTGCAGATCCTGCCTTTGGGAGCACAAGGTCTAATGGAGGAGACATGTTAGTTACTTAAACATGCAAATGTGGCTCGGTGTGGTGGCTCACGCCTGTAATCCTAGCAATTTGGGAGGTCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGTCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTAGGTGTGCTGGTGCATGCCTGTAATCCCAGCTGCTCAGGAGGCTGAGGCACGAGAATCACTTGAATCTGGGAGGTGGAGGCTGCAGTGAGCCATGATCGTGCCACTATACTCCAGCCTGGGCAACAAGTGCAAAATTCTGTCAAAAAAAAAAAAAAAAAAGAGAGAGAGAGACAAAGAGAGAGAGAAAAGGAAGGAAGGAAGGAAAAAAAAAAGGCTGGTTGTGGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCCAAGGTGGGCGGATCACCTGAGGTCAGGAGTTTCAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTGATGATACAAACAATTAGCCGGGTGTGGTGGTGGGCGTCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGGGAGGTTGCAGGGAGCCGAGATCATGCCACTGCACTCCAGCCTTGGTGACAGAGGGAGACTCTGTCTCAAAACAAAAAATGAAACAAAACAAAAAATAAGAAAGAAAGTTGGGGAGTGTTCTTCACCCCAAATCCCCAGACTGTGATTCTCAGCACAGTGGATCCCACCGGCCAAACTCAGGGAACAGAAGTGGCCCCAGAAGCTACATCCATATATGAACAGCACCATCTGGTCGAAATTTCTGCGATGACGGAAATGTTCTCTATCTGGGCCATCCAACATAGTAGCCACTTCTCCCCTGTGGCTTCTGAATGTGCTTAGTGCAACTAGGAAATCCAATTTTTTTTTTAATTGTGGTAAAATACACATAGCATAAAATTCACCATTGTAATCATGTTTAAATGTATAGTTCAGTGGTATTAAATACTTTTATGTGGCTATGCAACCATCACCACCACCCATCTCCAGAACTTTCTCACCTTAACCAAACTGAAACTCTGCCCCCATGAAACAGTCACACTCATCCTCCTCCCCAACTCCTGGCACCTGCCATTTTACTTTCTT | TGCACCCCCCTCTCCTTTGTTTTCTTCCGTTCAGGAAAGGTCCCAGATACCAAGGATGTGCGGTCAATTTCTCAGGGTTTCTGTTTTAGCATCTCCCGCATCATCAGTGAGAAAATCAAAGGAGGTTGCTATATTTCTCAGGCCATTGTTAAGGTGAGGGAAAAATGCCTTTTATTTAAGGCCAATGTCTTTTAAACAAACATCTTGCCAGAAGATATTAACCCATTTTTTTTATTTCAATTGTGATTTTAAAAAGAAAGAAATGAATCAAAAGGAATATGGTCATTTCCTCAATCTTGGGAATACACTGGCCAAAAAAAAAAAAAAAAACCTAAAACAAAAGTCTGTCTGGTATGAAAAGGTGATTTATAGACCCTTTTGGTCAATAAAGCCAAAAGGTTTTTTTGGTAGGTTTTTATCAACAACGAGCAAAACAAAACATATTGTACTTGCAGGTTTCACAAACACTCAAAGAAAGAGTCATAAGAACTGAAATTACAGCTTGTTTTCCTTCCCGCCCTCTCCACCCAGGGAAATACAATTTCCCACCCCAACACTCTCGCTTGGCTAATTCTCAAGTCTGAAGAGGAAGATACTTTACGTAAGCAGGTCAGCTCAAGGCCTCTTGATGTGTGTCTGTTTCTGATTTGTTTTTGTGTTGTTTTGTGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTTAAAACAAAACATAAAACCTCAATACAAAAACCAGGAAACAGATTTTTGCAACTCAGTTACGGCCCCAAAATAGCTCATGGAAGAAGCTCACAGTACGAACAGAAAGTCTGCGATGTGCGTAGGAAATCTGACTCTGTCGAAGAGAGAAAACCCTGCTATTTCTCACCCAAACGGCAGGAAATGGTTTGATTATACTGTCCTTCAGAGAACAGCAAAGCCCTGAGAATAATGCAGAAGCGAGTCTCTTCCTCCTGGAGACAGTATGTTCTGGGCTAATCTTGGCACACCACCAGGCTACAGGTCAGGGAAGACACGAAAGACCTTGGTATATCCTTTATGTGACAATGATGAAGCTACATCAGTGAGGACAGGCCACGTGGAGGATTTTAGGGAAAACCAAGGACTCTGTCCTTATTATATTTTCTTGTTCTGAAGCCAACCACAGAAAGCTTAGAACTGAGGTCCACAATGCCAGACTGGGTGCGGTGGCTCACACCTGCAATCACAGCACTTTGAGAGGCCAAGGCAGGTGGACCACCTGAGGTTGGGAGTTCGAGACCAGCCTGACCAACATGGCGAAACCCTGTCTCTATTAAAAATACAAAAATTAGCCGGGCATGGTGGCAGGCACCTGCAGTCCCAGCTGCTTGGGAGGCTGAGGCAGGAAAATCGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAGGTTCGTGCCACTGCACTCCAGCTTGGGAGTCTTGCGGCAAGACTCCATCTCAAAAAAAAAAAAAAAGAATGGTGGGCACAATGCCAGAAGTATATACTATCTGGTCCTTTAGAGAAAAAGGTAGTCAACTCCCACTCCCAAGCCCAGGACCAAAACAGGGTGCAAAAGTAGCATCTGAGAGCAGAGACCTCACTCATAGCCAATTAACCCTGGGTTTGCACACAGTTTTAACAAGCGGCATCGTCACAACCAACCCCACGTTCCTTCTCCTCTCGGCTGCCCCCCAGACCCACATCCAGAACTCACTTGCTGGAATTCATCGTGTACCCGGAGGGACACTCAGGGATGCACTTGTTGTTGTGAATGACGTACTGGTGGCAGCCCTGCCTCCGCGAGTTCTTGCATTTGTGGTGCAGGTCCTGGCAGAAGCTGAAGTTCACACAGCGCCAGTCCTGGAAGTGGTAGTACGGGGGCGGGCAGGTCTCCACACACCTGCCGTCCAGGTAGAAGTTGCGGCAGGCCACGCACTTGGTGGGGTCGTCGGGCTGAGAACAGTTGCCCAGGCACTCGCTGTGGCAACAGAGGCCTTCGGCGGTGCAGCCGTGTGACTTACAGATGGTCGGGCAAACTGGAGGGAGAGAGAGAGAGAGGGAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATGGCTTTGTCCAATTCCTGTCTGCATATGCAGCAATTCTGGATCAGACAGTGAAAGCCAACCAAACACTAACAGTAAAAGCGGCACGTCTACATCATTACCCACATGTCAGACACATCTATTAACTGGTTTAAGCCTCCAAACCATTGGTGAGCTTGTAAATGTTTAACAGCTGCCTGAGGGAGGGGCCCAGGGAGGCCCAGATTTATATAGCATTTGCCGATTTCCATGGTGTAAATATTCCTACCAGTGGTGGATTTCAGGCCACCAACATGAAGTTACTAAACATAAGCTGACAAAAGATACACAGTAGCATTCCTCTAAGTAGTATTTATAAGTATACACAAAATGTATCTACTATTGACACAAAAGTAGTAAATAACCTCAACAGCACAAATAATAGGAAAACATCGTATGATATTAGGAGGTGGTGAGTTTTGAGTATTTGTTACTTTTAAAAAGCTTTGTTAATTTAAAAACTTTTGTTTTTAATGTAATTTGTTTAACTGTAGGTTTATGTAATTTTTATGAATATCTATGTTTAACAAATGGCTCACAAATTGCCTGAAAATTTCACCACTGGCTCCAGCAAGCCAACTCCAGCATGCTGCTGCACCCCACATGTGAAGTAGATACACTGTTAGCTCCTTTATTTTTTTGTTTTACAAATGGGGAAACTGAGGTACAGGGAGGTTAAGTAACTTGCCCCCAAACCACTGATTGCTTCAACAGACATTTGCTTGCACTAATCTAGATACTGTGGCCACTGTGGGGAAAAAAGTGGCTGCAGATCCTGCCTTTGGGAGCACAAGGTCTAATGGAGGAGACATGTTAGTTACTTAAACATGCAAATGTGGCTCGGTGTGGTGGCTCACGCCTGTAATCCTAGCAATTTGGGAGGTCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGTCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTAGGTGTGCTGGTGCATGCCTGTAATCCCAGCTGCTCAGGAGGCTGAGGCACGAGAATCACTTGAATCTGGGAGGTGGAGGCTGCAGTGAGCCATGATCGTGCCACTATACTCCAGCCTGGGCAACAAGTGCAAAATTCTGTCAAAAAAAAAAAAAAAAAAGAGAGAGAGAGACAAAGAGAGAGAGAAAAGGAAGGAAGGAAGGAAAAAAAAAAGGCTGGTTGTGGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCCAAGGTGGGCGGATCACCTGAGGTCAGGAGTTTCAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTGATGATACAAACAATTAGCCGGGTGTGGTGGTGGGCGTCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGGGAGGTTGCAGGGAGCCGAGATCATGCCACTGCACTCCAGCCTTGGTGACAGAGGGAGACTCTGTCTCAAAACAAAAAATGAAACAAAACAAAAAATAAGAAAGAAAGTTGGGGAGTGTTCTTCACCCCAAATCCCCAGACTGTGATTCTCAGCACAGTGGATCCCACCGGCCAAACTCAGGGAACAGAAGTGGCCCCAGAAGCTACATCCATATATGAACAGCACCATCTGGTCGAAATTTCTGCGATGACGGAAATGTTCTCTATCTGGGCCATCCAACATAGTAGCCACTTCTCCCCTGTGGCTTCTGAATGTGCTTAGTGCAACTAGGAAATCCAATTTTTTTTTTAATTGTGGTAAAATACACATAGCATAAAATTCACCATTGTAATCATGTTTAAATGTATAGTTCAGTGGTATTAAATACTTTTATGTGGCTATGCAACCATCACCACCACCCATCTCCAGAACTTTCTCACCTTAACCAAACTGAAACTCTGCCCCCATGAAACAGTCACACTCATCCTCCTCCCCAACTCCTGGCACCTGCCATTTTACTTTCTTNN | benign | 294,951 |
Determine if the mutation at chromosome 19, position 7184645 in gene INSR (insulin receptor) is benign or pathogenic. If pathogenic, what disease(s) is associated? | benign | GCACCCCCCTCTCCTTTGTTTTCTTCCGTTCAGGAAAGGTCCCAGATACCAAGGATGTGCGGTCAATTTCTCAGGGTTTCTGTTTTAGCATCTCCCGCATCATCAGTGAGAAAATCAAAGGAGGTTGCTATATTTCTCAGGCCATTGTTAAGGTGAGGGAAAAATGCCTTTTATTTAAGGCCAATGTCTTTTAAACAAACATCTTGCCAGAAGATATTAACCCATTTTTTTTATTTCAATTGTGATTTTAAAAAGAAAGAAATGAATCAAAAGGAATATGGTCATTTCCTCAATCTTGGGAATACACTGGCCAAAAAAAAAAAAAAAAACCTAAAACAAAAGTCTGTCTGGTATGAAAAGGTGATTTATAGACCCTTTTGGTCAATAAAGCCAAAAGGTTTTTTTGGTAGGTTTTTATCAACAACGAGCAAAACAAAACATATTGTACTTGCAGGTTTCACAAACACTCAAAGAAAGAGTCATAAGAACTGAAATTACAGCTTGTTTTCCTTCCCGCCCTCTCCACCCAGGGAAATACAATTTCCCACCCCAACACTCTCGCTTGGCTAATTCTCAAGTCTGAAGAGGAAGATACTTTACGTAAGCAGGTCAGCTCAAGGCCTCTTGATGTGTGTCTGTTTCTGATTTGTTTTTGTGTTGTTTTGTGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTTAAAACAAAACATAAAACCTCAATACAAAAACCAGGAAACAGATTTTTGCAACTCAGTTACGGCCCCAAAATAGCTCATGGAAGAAGCTCACAGTACGAACAGAAAGTCTGCGATGTGCGTAGGAAATCTGACTCTGTCGAAGAGAGAAAACCCTGCTATTTCTCACCCAAACGGCAGGAAATGGTTTGATTATACTGTCCTTCAGAGAACAGCAAAGCCCTGAGAATAATGCAGAAGCGAGTCTCTTCCTCCTGGAGACAGTATGTTCTGGGCTAATCTTGGCACACCACCAGGCTACAGGTCAGGGAAGACACGAAAGACCTTGGTATATCCTTTATGTGACAATGATGAAGCTACATCAGTGAGGACAGGCCACGTGGAGGATTTTAGGGAAAACCAAGGACTCTGTCCTTATTATATTTTCTTGTTCTGAAGCCAACCACAGAAAGCTTAGAACTGAGGTCCACAATGCCAGACTGGGTGCGGTGGCTCACACCTGCAATCACAGCACTTTGAGAGGCCAAGGCAGGTGGACCACCTGAGGTTGGGAGTTCGAGACCAGCCTGACCAACATGGCGAAACCCTGTCTCTATTAAAAATACAAAAATTAGCCGGGCATGGTGGCAGGCACCTGCAGTCCCAGCTGCTTGGGAGGCTGAGGCAGGAAAATCGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAGGTTCGTGCCACTGCACTCCAGCTTGGGAGTCTTGCGGCAAGACTCCATCTCAAAAAAAAAAAAAAAGAATGGTGGGCACAATGCCAGAAGTATATACTATCTGGTCCTTTAGAGAAAAAGGTAGTCAACTCCCACTCCCAAGCCCAGGACCAAAACAGGGTGCAAAAGTAGCATCTGAGAGCAGAGACCTCACTCATAGCCAATTAACCCTGGGTTTGCACACAGTTTTAACAAGCGGCATCGTCACAACCAACCCCACGTTCCTTCTCCTCTCGGCTGCCCCCCAGACCCACATCCAGAACTCACTTGCTGGAATTCATCGTGTACCCGGAGGGACACTCAGGGATGCACTTGTTGTTGTGAATGACGTACTGGTGGCAGCCCTGCCTCCGCGAGTTCTTGCATTTGTGGTGCAGGTCCTGGCAGAAGCTGAAGTTCACACAGCGCCAGTCCTGGAAGTGGTAGTACGGGGGCGGGCAGGTCTCCACACACCTGCCGTCCAGGTAGAAGTTGCGGCAGGCCACGCACTTGGTGGGGTCGTCGGGCTGAGAACAGTTGCCCAGGCACTCGCTGTGGCAACAGAGGCCTTCGGCGGTGCAGCCGTGTGACTTACAGATGGTCGGGCAAACTGGAGAGAGAGAGAGAGAGAGAGGGAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATGGCTTTGTCCAATTCCTGTCTGCATATGCAGCAATTCTGGATCAGACAGTGAAAGCCAACCAAACACTAACAGTAAAAGCGGCACGTCTACATCATTACCCACATGTCAGACACATCTATTAACTGGTTTAAGCCTCCAAACCATTGGTGAGCTTGTAAATGTTTAACAGCTGCCTGAGGGAGGGGCCCAGGGAGGCCCAGATTTATATAGCATTTGCCGATTTCCATGGTGTAAATATTCCTACCAGTGGTGGATTTCAGGCCACCAACATGAAGTTACTAAACATAAGCTGACAAAAGATACACAGTAGCATTCCTCTAAGTAGTATTTATAAGTATACACAAAATGTATCTACTATTGACACAAAAGTAGTAAATAACCTCAACAGCACAAATAATAGGAAAACATCGTATGATATTAGGAGGTGGTGAGTTTTGAGTATTTGTTACTTTTAAAAAGCTTTGTTAATTTAAAAACTTTTGTTTTTAATGTAATTTGTTTAACTGTAGGTTTATGTAATTTTTATGAATATCTATGTTTAACAAATGGCTCACAAATTGCCTGAAAATTTCACCACTGGCTCCAGCAAGCCAACTCCAGCATGCTGCTGCACCCCACATGTGAAGTAGATACACTGTTAGCTCCTTTATTTTTTTGTTTTACAAATGGGGAAACTGAGGTACAGGGAGGTTAAGTAACTTGCCCCCAAACCACTGATTGCTTCAACAGACATTTGCTTGCACTAATCTAGATACTGTGGCCACTGTGGGGAAAAAAGTGGCTGCAGATCCTGCCTTTGGGAGCACAAGGTCTAATGGAGGAGACATGTTAGTTACTTAAACATGCAAATGTGGCTCGGTGTGGTGGCTCACGCCTGTAATCCTAGCAATTTGGGAGGTCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGTCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTAGGTGTGCTGGTGCATGCCTGTAATCCCAGCTGCTCAGGAGGCTGAGGCACGAGAATCACTTGAATCTGGGAGGTGGAGGCTGCAGTGAGCCATGATCGTGCCACTATACTCCAGCCTGGGCAACAAGTGCAAAATTCTGTCAAAAAAAAAAAAAAAAAAGAGAGAGAGAGACAAAGAGAGAGAGAAAAGGAAGGAAGGAAGGAAAAAAAAAAGGCTGGTTGTGGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCCAAGGTGGGCGGATCACCTGAGGTCAGGAGTTTCAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTGATGATACAAACAATTAGCCGGGTGTGGTGGTGGGCGTCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGGGAGGTTGCAGGGAGCCGAGATCATGCCACTGCACTCCAGCCTTGGTGACAGAGGGAGACTCTGTCTCAAAACAAAAAATGAAACAAAACAAAAAATAAGAAAGAAAGTTGGGGAGTGTTCTTCACCCCAAATCCCCAGACTGTGATTCTCAGCACAGTGGATCCCACCGGCCAAACTCAGGGAACAGAAGTGGCCCCAGAAGCTACATCCATATATGAACAGCACCATCTGGTCGAAATTTCTGCGATGACGGAAATGTTCTCTATCTGGGCCATCCAACATAGTAGCCACTTCTCCCCTGTGGCTTCTGAATGTGCTTAGTGCAACTAGGAAATCCAATTTTTTTTTTAATTGTGGTAAAATACACATAGCATAAAATTCACCATTGTAATCATGTTTAAATGTATAGTTCAGTGGTATTAAATACTTTTATGTGGCTATGCAACCATCACCACCACCCATCTCCAGAACTTTCTCACCTTAACCAAACTGAAACTCTGCCCCCATGAAACAGTCACACTCATCCTCCTCCCCAACTCCTGGCACCTGCCATTTTACTTTCTTT | GCACCCCCCTCTCCTTTGTTTTCTTCCGTTCAGGAAAGGTCCCAGATACCAAGGATGTGCGGTCAATTTCTCAGGGTTTCTGTTTTAGCATCTCCCGCATCATCAGTGAGAAAATCAAAGGAGGTTGCTATATTTCTCAGGCCATTGTTAAGGTGAGGGAAAAATGCCTTTTATTTAAGGCCAATGTCTTTTAAACAAACATCTTGCCAGAAGATATTAACCCATTTTTTTTATTTCAATTGTGATTTTAAAAAGAAAGAAATGAATCAAAAGGAATATGGTCATTTCCTCAATCTTGGGAATACACTGGCCAAAAAAAAAAAAAAAAACCTAAAACAAAAGTCTGTCTGGTATGAAAAGGTGATTTATAGACCCTTTTGGTCAATAAAGCCAAAAGGTTTTTTTGGTAGGTTTTTATCAACAACGAGCAAAACAAAACATATTGTACTTGCAGGTTTCACAAACACTCAAAGAAAGAGTCATAAGAACTGAAATTACAGCTTGTTTTCCTTCCCGCCCTCTCCACCCAGGGAAATACAATTTCCCACCCCAACACTCTCGCTTGGCTAATTCTCAAGTCTGAAGAGGAAGATACTTTACGTAAGCAGGTCAGCTCAAGGCCTCTTGATGTGTGTCTGTTTCTGATTTGTTTTTGTGTTGTTTTGTGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTTAAAACAAAACATAAAACCTCAATACAAAAACCAGGAAACAGATTTTTGCAACTCAGTTACGGCCCCAAAATAGCTCATGGAAGAAGCTCACAGTACGAACAGAAAGTCTGCGATGTGCGTAGGAAATCTGACTCTGTCGAAGAGAGAAAACCCTGCTATTTCTCACCCAAACGGCAGGAAATGGTTTGATTATACTGTCCTTCAGAGAACAGCAAAGCCCTGAGAATAATGCAGAAGCGAGTCTCTTCCTCCTGGAGACAGTATGTTCTGGGCTAATCTTGGCACACCACCAGGCTACAGGTCAGGGAAGACACGAAAGACCTTGGTATATCCTTTATGTGACAATGATGAAGCTACATCAGTGAGGACAGGCCACGTGGAGGATTTTAGGGAAAACCAAGGACTCTGTCCTTATTATATTTTCTTGTTCTGAAGCCAACCACAGAAAGCTTAGAACTGAGGTCCACAATGCCAGACTGGGTGCGGTGGCTCACACCTGCAATCACAGCACTTTGAGAGGCCAAGGCAGGTGGACCACCTGAGGTTGGGAGTTCGAGACCAGCCTGACCAACATGGCGAAACCCTGTCTCTATTAAAAATACAAAAATTAGCCGGGCATGGTGGCAGGCACCTGCAGTCCCAGCTGCTTGGGAGGCTGAGGCAGGAAAATCGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAGGTTCGTGCCACTGCACTCCAGCTTGGGAGTCTTGCGGCAAGACTCCATCTCAAAAAAAAAAAAAAAGAATGGTGGGCACAATGCCAGAAGTATATACTATCTGGTCCTTTAGAGAAAAAGGTAGTCAACTCCCACTCCCAAGCCCAGGACCAAAACAGGGTGCAAAAGTAGCATCTGAGAGCAGAGACCTCACTCATAGCCAATTAACCCTGGGTTTGCACACAGTTTTAACAAGCGGCATCGTCACAACCAACCCCACGTTCCTTCTCCTCTCGGCTGCCCCCCAGACCCACATCCAGAACTCACTTGCTGGAATTCATCGTGTACCCGGAGGGACACTCAGGGATGCACTTGTTGTTGTGAATGACGTACTGGTGGCAGCCCTGCCTCCGCGAGTTCTTGCATTTGTGGTGCAGGTCCTGGCAGAAGCTGAAGTTCACACAGCGCCAGTCCTGGAAGTGGTAGTACGGGGGCGGGCAGGTCTCCACACACCTGCCGTCCAGGTAGAAGTTGCGGCAGGCCACGCACTTGGTGGGGTCGTCGGGCTGAGAACAGTTGCCCAGGCACTCGCTGTGGCAACAGAGGCCTTCGGCGGTGCAGCCGTGTGACTTACAGATGGTCGGGCAAACTGGAGAGGAGAGAGAGAGAGAGGGAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATGGCTTTGTCCAATTCCTGTCTGCATATGCAGCAATTCTGGATCAGACAGTGAAAGCCAACCAAACACTAACAGTAAAAGCGGCACGTCTACATCATTACCCACATGTCAGACACATCTATTAACTGGTTTAAGCCTCCAAACCATTGGTGAGCTTGTAAATGTTTAACAGCTGCCTGAGGGAGGGGCCCAGGGAGGCCCAGATTTATATAGCATTTGCCGATTTCCATGGTGTAAATATTCCTACCAGTGGTGGATTTCAGGCCACCAACATGAAGTTACTAAACATAAGCTGACAAAAGATACACAGTAGCATTCCTCTAAGTAGTATTTATAAGTATACACAAAATGTATCTACTATTGACACAAAAGTAGTAAATAACCTCAACAGCACAAATAATAGGAAAACATCGTATGATATTAGGAGGTGGTGAGTTTTGAGTATTTGTTACTTTTAAAAAGCTTTGTTAATTTAAAAACTTTTGTTTTTAATGTAATTTGTTTAACTGTAGGTTTATGTAATTTTTATGAATATCTATGTTTAACAAATGGCTCACAAATTGCCTGAAAATTTCACCACTGGCTCCAGCAAGCCAACTCCAGCATGCTGCTGCACCCCACATGTGAAGTAGATACACTGTTAGCTCCTTTATTTTTTTGTTTTACAAATGGGGAAACTGAGGTACAGGGAGGTTAAGTAACTTGCCCCCAAACCACTGATTGCTTCAACAGACATTTGCTTGCACTAATCTAGATACTGTGGCCACTGTGGGGAAAAAAGTGGCTGCAGATCCTGCCTTTGGGAGCACAAGGTCTAATGGAGGAGACATGTTAGTTACTTAAACATGCAAATGTGGCTCGGTGTGGTGGCTCACGCCTGTAATCCTAGCAATTTGGGAGGTCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGTCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTAGGTGTGCTGGTGCATGCCTGTAATCCCAGCTGCTCAGGAGGCTGAGGCACGAGAATCACTTGAATCTGGGAGGTGGAGGCTGCAGTGAGCCATGATCGTGCCACTATACTCCAGCCTGGGCAACAAGTGCAAAATTCTGTCAAAAAAAAAAAAAAAAAAGAGAGAGAGAGACAAAGAGAGAGAGAAAAGGAAGGAAGGAAGGAAAAAAAAAAGGCTGGTTGTGGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCCAAGGTGGGCGGATCACCTGAGGTCAGGAGTTTCAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTGATGATACAAACAATTAGCCGGGTGTGGTGGTGGGCGTCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGGGAGGTTGCAGGGAGCCGAGATCATGCCACTGCACTCCAGCCTTGGTGACAGAGGGAGACTCTGTCTCAAAACAAAAAATGAAACAAAACAAAAAATAAGAAAGAAAGTTGGGGAGTGTTCTTCACCCCAAATCCCCAGACTGTGATTCTCAGCACAGTGGATCCCACCGGCCAAACTCAGGGAACAGAAGTGGCCCCAGAAGCTACATCCATATATGAACAGCACCATCTGGTCGAAATTTCTGCGATGACGGAAATGTTCTCTATCTGGGCCATCCAACATAGTAGCCACTTCTCCCCTGTGGCTTCTGAATGTGCTTAGTGCAACTAGGAAATCCAATTTTTTTTTTAATTGTGGTAAAATACACATAGCATAAAATTCACCATTGTAATCATGTTTAAATGTATAGTTCAGTGGTATTAAATACTTTTATGTGGCTATGCAACCATCACCACCACCCATCTCCAGAACTTTCTCACCTTAACCAAACTGAAACTCTGCCCCCATGAAACAGTCACACTCATCCTCCTCCCCAACTCCTGGCACCTGCCATTTTACTTTCTTTN | benign | 294,952 |
Is the genetic mutation found on chromosome 19 at position 7524964, within the gene MCOLN1 (mucolipin TRP cation channel 1), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Mucolipidosis_type_IV'] | ACGGCTCCTAGAACTTGGGCGGCGGGTGGGCACCAGCCTCTCCAATTCTTCCTCCTGAACCCAGGCTCTGCTGGGTTCCCAAACTCAGGCAGGGATCGCGCCGGGCCGCCAGCTTCTCCCTCTGGGGCGGCGAGGTTCCTGGGATTCCCACTGGGAGCCTAGGTTCCGATTGCTCAACTTCGTCTGGAACTCAGACAGCGGGCACCAGCTTCTCCAACCCGCACGTGAGACTCCCAGGCTTCCCCTCCTGATTCCAGGGGACAAATGCTCAGCTTCCCTAAGCTCAAGCCTGGAGAGCTGGAGGGATTGCCCCCAGGCGATTAACTCAGTTTTAGCTTTCCAAACCGCTGGAAGCGCAGCCTTCTTAAATTCGGGCTTCTAGCCAATTCTGATGCCACCCCTCCTCGGGGAGGCTGGAGGAAGACCCCTTGTGTTAGCTTCCCCTTCTGGAGCTAGCTGGGGACCCCTACCTGATAGATGTCCCGGTGTCCCAGCTAGTAGGGTCTGGGGTGGGTTAGCTGTAATCTCAGCTCTGTAAGCGGGCCCTGCCCTCTGGCTTTGTCGTAAACAGCCACAGCAGCATCTCATTGCAAAGGGAGGGGCCGGGAACTTGTCCCTCTCTGCAAGGGAGGTTCTGACAGTGCACACATTTATCCTGACTGCTTTGCTAGGCAGGAGGCCAGGCCCTAGAAAGCAGCACGGGGCCAGGCCCTAGAAAGCACATCCCCATGGGGGTGTGACAGGGACAGTTTTGGGCTACTGTGACTGGTTTTGACTCCAGCAGTTGCTGAAAGCTTAGATCTAACCATTAGGCTGGAAAAAAATAAACAGTGATTAGAACAGCTTGTGTTTGCTGAAGAGGTCTTTATCTGCTGTGTCTCACTGAATTCTCAGAGCAGCTTCAGGATCTCAACCTCAAGGCTCAGGGAGAGGGTGGACTTTTTTTTTTTTTAATAAACTTTTTTTTGTTGCCCAGGCTGTAGTGCAGTGGCATAATCCTAGCTCATTGTAACATCGAACTCCTGGGCTCAAGTGATCCTCCCAACTCAGCCTCCCGGGTAGATGGGGTCCCAGCTACTAACTACGGGCATGAGCCGTCACACCTGACTATTTAAAAAAAATGTTTTTTTTTTGTAGACAGGGAGGTCTCGCTGTATTACCTAGGCTGGATCCTCCCACCTTGGCCTCCCAAAGCCGTTGGGATAACAGGCATGAGCCACTGAGCCCAGCCAAGGGGTCGCCTTTTTAAAATTTCCACTCTTCAGATGAGGAGATGGAGGCTCAGGGAGGTACCTGGAGTCAACCTACTGTAAAGTGGCAGGTCTGGGATTTGATGCTAGGGCTGCATGATTTCTAGGAGCTGGTGCTTTTCAGGGAGATAAAATGAGTCTTTAGCGAATGTGTTCCATTATTATTACTTATGTTGTCAATTACCTCTTCTCCAGGTCCTTGGCTTCTGAGAGTGTCAGCTGATGGGCCAGGTTATAATGAACCCAGAGGTCATCTTTTGGGTATTTGTCCAGACAAACCTAGAATACAGGCTGAGTTCTATGCTCATGTCTGGAAGCTGGAGTTGGGATAAGCCCAGCAGGCTTGAACGCCCAGTGAAAAGCCAGTGGGAGCAGTTCATTCTCTCCCCACTGATCAATAACGGGAACATTGATGAAATGTTCTGACATTCACCATGGACCAGCCCCTGTGATCAATGCTTCATAAGCATCCAGTCCTTAGCGTTCCCATGAGACATATTATTGCCCCATTTCGCAGATGAGGAAACTGAGGCTCAGAGAGCTGGTGAGCAGGAGGGGCAGGAATCAGCCCAGGCCCTGTACCTCCCAAACCCAAACTCATAACCTCTGAGCAGGACGGGTGCATAGATACCTACAATGTCACAGGTTTTCTGGTTTTCTTTAGACCTCTCAGAGCTCTTCCTTGGCAGGAGCATGGGGACATGAAGATAGGGCGTGTGCTGCCTTCCTGGTTGGAGAAAGGGGAAAAGGGGAGTTGCCCAGGCCTCACCCCAGTGCCCTCTCCTATTCCCACAGAGACCGAGCGGCTTCTGACCCCCAACCCCGGGTATGGGACCCAGGCGGGGCCTTCACCGGCCCCTCCGACACCCCCAGAAGAGGAAGACCTTCGCCGTCGTCTCAAATACTTTTTCATGAGTCCCTGCGACAAGTTTCGAGCCAAGGGCCGCAAGCCCTGCAAGCTGATGCTGCAAGTGGTCAAGATCCTGGTGGTCACGGTGCAGGTGAGGCCAGCCAAGCAGGGGCCCCAGCTGAAGGCCACCTGTGGCTGCTGTGCTCCTTGAAGAGAGTCTTAAAGCAGCACTTTGGAAGGCCGAGGCCGGTGGATCGCTTGAGGCTGGGAGTTCAAGACCAGTCTGGCCAGCATGGTGAAACCCCATCTCTACTAAAAATACAAAAAAATTAGCCGTGCGTGGTGGCGGGTGCCTGTAATCCCAGCTACTTGGCAGGCTGAGGCAGGAGAATCGCTTGAATTGGGAGGCGGAGGTTGCCGTGAGCTGAAATCATGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTGTCTCAAAAAAAAAAAGAAGCCGACTCTGAGGCTCAGAGAGGTTAGGAGACTTGCCCAAAGTCACACAGCAATAGAACATTGGGAGCTGGGATTTGAACCCAGGCAGTCTGACACCATGTTGACCCAATGGCTGCACAGATAGTTCTCCCTCCCCCATGCCAGACCCTGTGCTGGGCTCTGGGAACCCCAAGATGAATCAGACCCAGCCACTGCCCTAAGTGCTTACTTCATGTTTTGGGCTGACTTTAGCATGTCACCATGCCTCTAATTTTCCCTCTGAAAAGGGACCCAATTGTCCAGGCATGGTGGCTCATGCCTGTAATGCCAGCACTTTGGGAGGCTGAGTTGGGTGGATCATTTGAGGCCAGGAGTTTGAGACCAGCCTGGCCAACATTGCAAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGTTTGGTGGCAGGTACCTGTAACTCAGCTACTCAGGAGGCTGAGACAGGAGAATTGCTTGAACCCAGGGGGTGGAGGTTGTAGTGAGCTGAGATCATACCATGGCACTCCAACTTGGGCAACAGAGTGAGACTCTGTCTCAAAAAAGAAAAGAAAAGGGACCCAGTCATGGTACTTACCCTGAAAGTTTGGGTTTAACACAGAATCGGACATCCAGTAAACATTTAATGAACGTTAGTCCCTGCAGTGAGATAGATGAGTCCCCACCCTGTGTTGTACGGGGGAGGACACAGTGGTGGGCGTGGCATGGAGCTTATGCCAGGAGGTGGGGTGAAATTAATCAAAGCAAAGAAATGCACAAGTGAAATCCGTGTTTGTGGCCCAAGTTAGCAGGGCCCTGCCCCACCCCAGTGGACATCTGCAGGGCCCTCCCTGTCCTCTTCCAGGGCCTGTGCCCTGAGGGAGATACACCCCAACCCCCATCCTAGCCATGCCAACCTCTACTACCCTCTCCCCAGCTCATCCTGTTTGGGCTCAGTAATCAGCTGGCTGTGACATTCCGGGAAGAGAACACCATCGCCTTCCGACACCTCTTCCTGCTGGGCTACTCGGACGGAGCGGATGACACCTTCGCAGCCTACACGCGGGAGCAGCTGTACCAGGCCATCTTCCATGCTGTGGACCAGGTGCTGGTGGGCGGGCAGGTGCTGGTGGGCAGGCAGGTGCAGGTGGGCGGGCAGGTGCAGTTGGGCGGGCAGGTGCTGGTGGGCGGGCAGGTGCAGGTGGGTGGGCTGCAGAGAGCGGGCCGGACTCACAGGCCCTCCCCTTCTCTGCCCACAGTACCTGGCGTTGCCTGACGTGTCACTGGGCCGGTATGCGTATGTCCGTGGTGGGGGTGACCCTTGGACCAATGGCTCAGGGCTTGCTCTCTGCCAGCGGTACTACCACCGAGGCCACGTGGACCCGGCCAACGACACATTTGACATTGATCCGATGGTGGTTACTGGTGAGTGGGCAGGACGAGGCTTCACTGTTGGGAGCCTGAGCTGCTGGGATTAAAATCAACAGCTGTGGCTGGGCACGGTGGCTCA | ACGGCTCCTAGAACTTGGGCGGCGGGTGGGCACCAGCCTCTCCAATTCTTCCTCCTGAACCCAGGCTCTGCTGGGTTCCCAAACTCAGGCAGGGATCGCGCCGGGCCGCCAGCTTCTCCCTCTGGGGCGGCGAGGTTCCTGGGATTCCCACTGGGAGCCTAGGTTCCGATTGCTCAACTTCGTCTGGAACTCAGACAGCGGGCACCAGCTTCTCCAACCCGCACGTGAGACTCCCAGGCTTCCCCTCCTGATTCCAGGGGACAAATGCTCAGCTTCCCTAAGCTCAAGCCTGGAGAGCTGGAGGGATTGCCCCCAGGCGATTAACTCAGTTTTAGCTTTCCAAACCGCTGGAAGCGCAGCCTTCTTAAATTCGGGCTTCTAGCCAATTCTGATGCCACCCCTCCTCGGGGAGGCTGGAGGAAGACCCCTTGTGTTAGCTTCCCCTTCTGGAGCTAGCTGGGGACCCCTACCTGATAGATGTCCCGGTGTCCCAGCTAGTAGGGTCTGGGGTGGGTTAGCTGTAATCTCAGCTCTGTAAGCGGGCCCTGCCCTCTGGCTTTGTCGTAAACAGCCACAGCAGCATCTCATTGCAAAGGGAGGGGCCGGGAACTTGTCCCTCTCTGCAAGGGAGGTTCTGACAGTGCACACATTTATCCTGACTGCTTTGCTAGGCAGGAGGCCAGGCCCTAGAAAGCAGCACGGGGCCAGGCCCTAGAAAGCACATCCCCATGGGGGTGTGACAGGGACAGTTTTGGGCTACTGTGACTGGTTTTGACTCCAGCAGTTGCTGAAAGCTTAGATCTAACCATTAGGCTGGAAAAAAATAAACAGTGATTAGAACAGCTTGTGTTTGCTGAAGAGGTCTTTATCTGCTGTGTCTCACTGAATTCTCAGAGCAGCTTCAGGATCTCAACCTCAAGGCTCAGGGAGAGGGTGGACTTTTTTTTTTTTTAATAAACTTTTTTTTGTTGCCCAGGCTGTAGTGCAGTGGCATAATCCTAGCTCATTGTAACATCGAACTCCTGGGCTCAAGTGATCCTCCCAACTCAGCCTCCCGGGTAGATGGGGTCCCAGCTACTAACTACGGGCATGAGCCGTCACACCTGACTATTTAAAAAAAATGTTTTTTTTTTGTAGACAGGGAGGTCTCGCTGTATTACCTAGGCTGGATCCTCCCACCTTGGCCTCCCAAAGCCGTTGGGATAACAGGCATGAGCCACTGAGCCCAGCCAAGGGGTCGCCTTTTTAAAATTTCCACTCTTCAGATGAGGAGATGGAGGCTCAGGGAGGTACCTGGAGTCAACCTACTGTAAAGTGGCAGGTCTGGGATTTGATGCTAGGGCTGCATGATTTCTAGGAGCTGGTGCTTTTCAGGGAGATAAAATGAGTCTTTAGCGAATGTGTTCCATTATTATTACTTATGTTGTCAATTACCTCTTCTCCAGGTCCTTGGCTTCTGAGAGTGTCAGCTGATGGGCCAGGTTATAATGAACCCAGAGGTCATCTTTTGGGTATTTGTCCAGACAAACCTAGAATACAGGCTGAGTTCTATGCTCATGTCTGGAAGCTGGAGTTGGGATAAGCCCAGCAGGCTTGAACGCCCAGTGAAAAGCCAGTGGGAGCAGTTCATTCTCTCCCCACTGATCAATAACGGGAACATTGATGAAATGTTCTGACATTCACCATGGACCAGCCCCTGTGATCAATGCTTCATAAGCATCCAGTCCTTAGCGTTCCCATGAGACATATTATTGCCCCATTTCGCAGATGAGGAAACTGAGGCTCAGAGAGCTGGTGAGCAGGAGGGGCAGGAATCAGCCCAGGCCCTGTACCTCCCAAACCCAAACTCATAACCTCTGAGCAGGACGGGTGCATAGATACCTACAATGTCACAGGTTTTCTGGTTTTCTTTAGACCTCTCAGAGCTCTTCCTTGGCAGGAGCATGGGGACATGAAGATAGGGCGTGTGCTGCCTTCCTGGTTGGAGAAAGGGGAAAAGGGGAGTTGCCCAGGCCTCACCCCAGTGCCCTCTCCTATTCCCACAGAGACCGAGCGAGCGGCTTCTGACCCCCAACCCCGGGTATGGGACCCAGGCGGGGCCTTCACCGGCCCCTCCGACACCCCCAGAAGAGGAAGACCTTCGCCGTCGTCTCAAATACTTTTTCATGAGTCCCTGCGACAAGTTTCGAGCCAAGGGCCGCAAGCCCTGCAAGCTGATGCTGCAAGTGGTCAAGATCCTGGTGGTCACGGTGCAGGTGAGGCCAGCCAAGCAGGGGCCCCAGCTGAAGGCCACCTGTGGCTGCTGTGCTCCTTGAAGAGAGTCTTAAAGCAGCACTTTGGAAGGCCGAGGCCGGTGGATCGCTTGAGGCTGGGAGTTCAAGACCAGTCTGGCCAGCATGGTGAAACCCCATCTCTACTAAAAATACAAAAAAATTAGCCGTGCGTGGTGGCGGGTGCCTGTAATCCCAGCTACTTGGCAGGCTGAGGCAGGAGAATCGCTTGAATTGGGAGGCGGAGGTTGCCGTGAGCTGAAATCATGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTGTCTCAAAAAAAAAAAGAAGCCGACTCTGAGGCTCAGAGAGGTTAGGAGACTTGCCCAAAGTCACACAGCAATAGAACATTGGGAGCTGGGATTTGAACCCAGGCAGTCTGACACCATGTTGACCCAATGGCTGCACAGATAGTTCTCCCTCCCCCATGCCAGACCCTGTGCTGGGCTCTGGGAACCCCAAGATGAATCAGACCCAGCCACTGCCCTAAGTGCTTACTTCATGTTTTGGGCTGACTTTAGCATGTCACCATGCCTCTAATTTTCCCTCTGAAAAGGGACCCAATTGTCCAGGCATGGTGGCTCATGCCTGTAATGCCAGCACTTTGGGAGGCTGAGTTGGGTGGATCATTTGAGGCCAGGAGTTTGAGACCAGCCTGGCCAACATTGCAAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGTTTGGTGGCAGGTACCTGTAACTCAGCTACTCAGGAGGCTGAGACAGGAGAATTGCTTGAACCCAGGGGGTGGAGGTTGTAGTGAGCTGAGATCATACCATGGCACTCCAACTTGGGCAACAGAGTGAGACTCTGTCTCAAAAAAGAAAAGAAAAGGGACCCAGTCATGGTACTTACCCTGAAAGTTTGGGTTTAACACAGAATCGGACATCCAGTAAACATTTAATGAACGTTAGTCCCTGCAGTGAGATAGATGAGTCCCCACCCTGTGTTGTACGGGGGAGGACACAGTGGTGGGCGTGGCATGGAGCTTATGCCAGGAGGTGGGGTGAAATTAATCAAAGCAAAGAAATGCACAAGTGAAATCCGTGTTTGTGGCCCAAGTTAGCAGGGCCCTGCCCCACCCCAGTGGACATCTGCAGGGCCCTCCCTGTCCTCTTCCAGGGCCTGTGCCCTGAGGGAGATACACCCCAACCCCCATCCTAGCCATGCCAACCTCTACTACCCTCTCCCCAGCTCATCCTGTTTGGGCTCAGTAATCAGCTGGCTGTGACATTCCGGGAAGAGAACACCATCGCCTTCCGACACCTCTTCCTGCTGGGCTACTCGGACGGAGCGGATGACACCTTCGCAGCCTACACGCGGGAGCAGCTGTACCAGGCCATCTTCCATGCTGTGGACCAGGTGCTGGTGGGCGGGCAGGTGCTGGTGGGCAGGCAGGTGCAGGTGGGCGGGCAGGTGCAGTTGGGCGGGCAGGTGCTGGTGGGCGGGCAGGTGCAGGTGGGTGGGCTGCAGAGAGCGGGCCGGACTCACAGGCCCTCCCCTTCTCTGCCCACAGTACCTGGCGTTGCCTGACGTGTCACTGGGCCGGTATGCGTATGTCCGTGGTGGGGGTGACCCTTGGACCAATGGCTCAGGGCTTGCTCTCTGCCAGCGGTACTACCACCGAGGCCACGTGGACCCGGCCAACGACACATTTGACATTGATCCGATGGTGGTTACTGGTGAGTGGGCAGGACGAGGCTTCACTGTTGGGAGCCTGAGCTGCTGGGATTAAAATCAACAGCTGTGGCTGGGCACGGTGG | pathogenic | 295,013 |
A genetic variant at chromosome 19, position 7524978, affecting gene MCOLN1 (mucolipin TRP cation channel 1)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Mucolipidosis_type_IV'] | TTGGGCGGCGGGTGGGCACCAGCCTCTCCAATTCTTCCTCCTGAACCCAGGCTCTGCTGGGTTCCCAAACTCAGGCAGGGATCGCGCCGGGCCGCCAGCTTCTCCCTCTGGGGCGGCGAGGTTCCTGGGATTCCCACTGGGAGCCTAGGTTCCGATTGCTCAACTTCGTCTGGAACTCAGACAGCGGGCACCAGCTTCTCCAACCCGCACGTGAGACTCCCAGGCTTCCCCTCCTGATTCCAGGGGACAAATGCTCAGCTTCCCTAAGCTCAAGCCTGGAGAGCTGGAGGGATTGCCCCCAGGCGATTAACTCAGTTTTAGCTTTCCAAACCGCTGGAAGCGCAGCCTTCTTAAATTCGGGCTTCTAGCCAATTCTGATGCCACCCCTCCTCGGGGAGGCTGGAGGAAGACCCCTTGTGTTAGCTTCCCCTTCTGGAGCTAGCTGGGGACCCCTACCTGATAGATGTCCCGGTGTCCCAGCTAGTAGGGTCTGGGGTGGGTTAGCTGTAATCTCAGCTCTGTAAGCGGGCCCTGCCCTCTGGCTTTGTCGTAAACAGCCACAGCAGCATCTCATTGCAAAGGGAGGGGCCGGGAACTTGTCCCTCTCTGCAAGGGAGGTTCTGACAGTGCACACATTTATCCTGACTGCTTTGCTAGGCAGGAGGCCAGGCCCTAGAAAGCAGCACGGGGCCAGGCCCTAGAAAGCACATCCCCATGGGGGTGTGACAGGGACAGTTTTGGGCTACTGTGACTGGTTTTGACTCCAGCAGTTGCTGAAAGCTTAGATCTAACCATTAGGCTGGAAAAAAATAAACAGTGATTAGAACAGCTTGTGTTTGCTGAAGAGGTCTTTATCTGCTGTGTCTCACTGAATTCTCAGAGCAGCTTCAGGATCTCAACCTCAAGGCTCAGGGAGAGGGTGGACTTTTTTTTTTTTTAATAAACTTTTTTTTGTTGCCCAGGCTGTAGTGCAGTGGCATAATCCTAGCTCATTGTAACATCGAACTCCTGGGCTCAAGTGATCCTCCCAACTCAGCCTCCCGGGTAGATGGGGTCCCAGCTACTAACTACGGGCATGAGCCGTCACACCTGACTATTTAAAAAAAATGTTTTTTTTTTGTAGACAGGGAGGTCTCGCTGTATTACCTAGGCTGGATCCTCCCACCTTGGCCTCCCAAAGCCGTTGGGATAACAGGCATGAGCCACTGAGCCCAGCCAAGGGGTCGCCTTTTTAAAATTTCCACTCTTCAGATGAGGAGATGGAGGCTCAGGGAGGTACCTGGAGTCAACCTACTGTAAAGTGGCAGGTCTGGGATTTGATGCTAGGGCTGCATGATTTCTAGGAGCTGGTGCTTTTCAGGGAGATAAAATGAGTCTTTAGCGAATGTGTTCCATTATTATTACTTATGTTGTCAATTACCTCTTCTCCAGGTCCTTGGCTTCTGAGAGTGTCAGCTGATGGGCCAGGTTATAATGAACCCAGAGGTCATCTTTTGGGTATTTGTCCAGACAAACCTAGAATACAGGCTGAGTTCTATGCTCATGTCTGGAAGCTGGAGTTGGGATAAGCCCAGCAGGCTTGAACGCCCAGTGAAAAGCCAGTGGGAGCAGTTCATTCTCTCCCCACTGATCAATAACGGGAACATTGATGAAATGTTCTGACATTCACCATGGACCAGCCCCTGTGATCAATGCTTCATAAGCATCCAGTCCTTAGCGTTCCCATGAGACATATTATTGCCCCATTTCGCAGATGAGGAAACTGAGGCTCAGAGAGCTGGTGAGCAGGAGGGGCAGGAATCAGCCCAGGCCCTGTACCTCCCAAACCCAAACTCATAACCTCTGAGCAGGACGGGTGCATAGATACCTACAATGTCACAGGTTTTCTGGTTTTCTTTAGACCTCTCAGAGCTCTTCCTTGGCAGGAGCATGGGGACATGAAGATAGGGCGTGTGCTGCCTTCCTGGTTGGAGAAAGGGGAAAAGGGGAGTTGCCCAGGCCTCACCCCAGTGCCCTCTCCTATTCCCACAGAGACCGAGCGGCTTCTGACCCCCAACCCCGGGTATGGGACCCAGGCGGGGCCTTCACCGGCCCCTCCGACACCCCCAGAAGAGGAAGACCTTCGCCGTCGTCTCAAATACTTTTTCATGAGTCCCTGCGACAAGTTTCGAGCCAAGGGCCGCAAGCCCTGCAAGCTGATGCTGCAAGTGGTCAAGATCCTGGTGGTCACGGTGCAGGTGAGGCCAGCCAAGCAGGGGCCCCAGCTGAAGGCCACCTGTGGCTGCTGTGCTCCTTGAAGAGAGTCTTAAAGCAGCACTTTGGAAGGCCGAGGCCGGTGGATCGCTTGAGGCTGGGAGTTCAAGACCAGTCTGGCCAGCATGGTGAAACCCCATCTCTACTAAAAATACAAAAAAATTAGCCGTGCGTGGTGGCGGGTGCCTGTAATCCCAGCTACTTGGCAGGCTGAGGCAGGAGAATCGCTTGAATTGGGAGGCGGAGGTTGCCGTGAGCTGAAATCATGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTGTCTCAAAAAAAAAAAGAAGCCGACTCTGAGGCTCAGAGAGGTTAGGAGACTTGCCCAAAGTCACACAGCAATAGAACATTGGGAGCTGGGATTTGAACCCAGGCAGTCTGACACCATGTTGACCCAATGGCTGCACAGATAGTTCTCCCTCCCCCATGCCAGACCCTGTGCTGGGCTCTGGGAACCCCAAGATGAATCAGACCCAGCCACTGCCCTAAGTGCTTACTTCATGTTTTGGGCTGACTTTAGCATGTCACCATGCCTCTAATTTTCCCTCTGAAAAGGGACCCAATTGTCCAGGCATGGTGGCTCATGCCTGTAATGCCAGCACTTTGGGAGGCTGAGTTGGGTGGATCATTTGAGGCCAGGAGTTTGAGACCAGCCTGGCCAACATTGCAAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGTTTGGTGGCAGGTACCTGTAACTCAGCTACTCAGGAGGCTGAGACAGGAGAATTGCTTGAACCCAGGGGGTGGAGGTTGTAGTGAGCTGAGATCATACCATGGCACTCCAACTTGGGCAACAGAGTGAGACTCTGTCTCAAAAAAGAAAAGAAAAGGGACCCAGTCATGGTACTTACCCTGAAAGTTTGGGTTTAACACAGAATCGGACATCCAGTAAACATTTAATGAACGTTAGTCCCTGCAGTGAGATAGATGAGTCCCCACCCTGTGTTGTACGGGGGAGGACACAGTGGTGGGCGTGGCATGGAGCTTATGCCAGGAGGTGGGGTGAAATTAATCAAAGCAAAGAAATGCACAAGTGAAATCCGTGTTTGTGGCCCAAGTTAGCAGGGCCCTGCCCCACCCCAGTGGACATCTGCAGGGCCCTCCCTGTCCTCTTCCAGGGCCTGTGCCCTGAGGGAGATACACCCCAACCCCCATCCTAGCCATGCCAACCTCTACTACCCTCTCCCCAGCTCATCCTGTTTGGGCTCAGTAATCAGCTGGCTGTGACATTCCGGGAAGAGAACACCATCGCCTTCCGACACCTCTTCCTGCTGGGCTACTCGGACGGAGCGGATGACACCTTCGCAGCCTACACGCGGGAGCAGCTGTACCAGGCCATCTTCCATGCTGTGGACCAGGTGCTGGTGGGCGGGCAGGTGCTGGTGGGCAGGCAGGTGCAGGTGGGCGGGCAGGTGCAGTTGGGCGGGCAGGTGCTGGTGGGCGGGCAGGTGCAGGTGGGTGGGCTGCAGAGAGCGGGCCGGACTCACAGGCCCTCCCCTTCTCTGCCCACAGTACCTGGCGTTGCCTGACGTGTCACTGGGCCGGTATGCGTATGTCCGTGGTGGGGGTGACCCTTGGACCAATGGCTCAGGGCTTGCTCTCTGCCAGCGGTACTACCACCGAGGCCACGTGGACCCGGCCAACGACACATTTGACATTGATCCGATGGTGGTTACTGGTGAGTGGGCAGGACGAGGCTTCACTGTTGGGAGCCTGAGCTGCTGGGATTAAAATCAACAGCTGTGGCTGGGCACGGTGGCTCACGCCTATAATACCA | TTGGGCGGCGGGTGGGCACCAGCCTCTCCAATTCTTCCTCCTGAACCCAGGCTCTGCTGGGTTCCCAAACTCAGGCAGGGATCGCGCCGGGCCGCCAGCTTCTCCCTCTGGGGCGGCGAGGTTCCTGGGATTCCCACTGGGAGCCTAGGTTCCGATTGCTCAACTTCGTCTGGAACTCAGACAGCGGGCACCAGCTTCTCCAACCCGCACGTGAGACTCCCAGGCTTCCCCTCCTGATTCCAGGGGACAAATGCTCAGCTTCCCTAAGCTCAAGCCTGGAGAGCTGGAGGGATTGCCCCCAGGCGATTAACTCAGTTTTAGCTTTCCAAACCGCTGGAAGCGCAGCCTTCTTAAATTCGGGCTTCTAGCCAATTCTGATGCCACCCCTCCTCGGGGAGGCTGGAGGAAGACCCCTTGTGTTAGCTTCCCCTTCTGGAGCTAGCTGGGGACCCCTACCTGATAGATGTCCCGGTGTCCCAGCTAGTAGGGTCTGGGGTGGGTTAGCTGTAATCTCAGCTCTGTAAGCGGGCCCTGCCCTCTGGCTTTGTCGTAAACAGCCACAGCAGCATCTCATTGCAAAGGGAGGGGCCGGGAACTTGTCCCTCTCTGCAAGGGAGGTTCTGACAGTGCACACATTTATCCTGACTGCTTTGCTAGGCAGGAGGCCAGGCCCTAGAAAGCAGCACGGGGCCAGGCCCTAGAAAGCACATCCCCATGGGGGTGTGACAGGGACAGTTTTGGGCTACTGTGACTGGTTTTGACTCCAGCAGTTGCTGAAAGCTTAGATCTAACCATTAGGCTGGAAAAAAATAAACAGTGATTAGAACAGCTTGTGTTTGCTGAAGAGGTCTTTATCTGCTGTGTCTCACTGAATTCTCAGAGCAGCTTCAGGATCTCAACCTCAAGGCTCAGGGAGAGGGTGGACTTTTTTTTTTTTTAATAAACTTTTTTTTGTTGCCCAGGCTGTAGTGCAGTGGCATAATCCTAGCTCATTGTAACATCGAACTCCTGGGCTCAAGTGATCCTCCCAACTCAGCCTCCCGGGTAGATGGGGTCCCAGCTACTAACTACGGGCATGAGCCGTCACACCTGACTATTTAAAAAAAATGTTTTTTTTTTGTAGACAGGGAGGTCTCGCTGTATTACCTAGGCTGGATCCTCCCACCTTGGCCTCCCAAAGCCGTTGGGATAACAGGCATGAGCCACTGAGCCCAGCCAAGGGGTCGCCTTTTTAAAATTTCCACTCTTCAGATGAGGAGATGGAGGCTCAGGGAGGTACCTGGAGTCAACCTACTGTAAAGTGGCAGGTCTGGGATTTGATGCTAGGGCTGCATGATTTCTAGGAGCTGGTGCTTTTCAGGGAGATAAAATGAGTCTTTAGCGAATGTGTTCCATTATTATTACTTATGTTGTCAATTACCTCTTCTCCAGGTCCTTGGCTTCTGAGAGTGTCAGCTGATGGGCCAGGTTATAATGAACCCAGAGGTCATCTTTTGGGTATTTGTCCAGACAAACCTAGAATACAGGCTGAGTTCTATGCTCATGTCTGGAAGCTGGAGTTGGGATAAGCCCAGCAGGCTTGAACGCCCAGTGAAAAGCCAGTGGGAGCAGTTCATTCTCTCCCCACTGATCAATAACGGGAACATTGATGAAATGTTCTGACATTCACCATGGACCAGCCCCTGTGATCAATGCTTCATAAGCATCCAGTCCTTAGCGTTCCCATGAGACATATTATTGCCCCATTTCGCAGATGAGGAAACTGAGGCTCAGAGAGCTGGTGAGCAGGAGGGGCAGGAATCAGCCCAGGCCCTGTACCTCCCAAACCCAAACTCATAACCTCTGAGCAGGACGGGTGCATAGATACCTACAATGTCACAGGTTTTCTGGTTTTCTTTAGACCTCTCAGAGCTCTTCCTTGGCAGGAGCATGGGGACATGAAGATAGGGCGTGTGCTGCCTTCCTGGTTGGAGAAAGGGGAAAAGGGGAGTTGCCCAGGCCTCACCCCAGTGCCCTCTCCTATTCCCACAGAGACCGAGCGGCTTCTGACCCCCCAACCCCGGGTATGGGACCCAGGCGGGGCCTTCACCGGCCCCTCCGACACCCCCAGAAGAGGAAGACCTTCGCCGTCGTCTCAAATACTTTTTCATGAGTCCCTGCGACAAGTTTCGAGCCAAGGGCCGCAAGCCCTGCAAGCTGATGCTGCAAGTGGTCAAGATCCTGGTGGTCACGGTGCAGGTGAGGCCAGCCAAGCAGGGGCCCCAGCTGAAGGCCACCTGTGGCTGCTGTGCTCCTTGAAGAGAGTCTTAAAGCAGCACTTTGGAAGGCCGAGGCCGGTGGATCGCTTGAGGCTGGGAGTTCAAGACCAGTCTGGCCAGCATGGTGAAACCCCATCTCTACTAAAAATACAAAAAAATTAGCCGTGCGTGGTGGCGGGTGCCTGTAATCCCAGCTACTTGGCAGGCTGAGGCAGGAGAATCGCTTGAATTGGGAGGCGGAGGTTGCCGTGAGCTGAAATCATGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTGTCTCAAAAAAAAAAAGAAGCCGACTCTGAGGCTCAGAGAGGTTAGGAGACTTGCCCAAAGTCACACAGCAATAGAACATTGGGAGCTGGGATTTGAACCCAGGCAGTCTGACACCATGTTGACCCAATGGCTGCACAGATAGTTCTCCCTCCCCCATGCCAGACCCTGTGCTGGGCTCTGGGAACCCCAAGATGAATCAGACCCAGCCACTGCCCTAAGTGCTTACTTCATGTTTTGGGCTGACTTTAGCATGTCACCATGCCTCTAATTTTCCCTCTGAAAAGGGACCCAATTGTCCAGGCATGGTGGCTCATGCCTGTAATGCCAGCACTTTGGGAGGCTGAGTTGGGTGGATCATTTGAGGCCAGGAGTTTGAGACCAGCCTGGCCAACATTGCAAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGTTTGGTGGCAGGTACCTGTAACTCAGCTACTCAGGAGGCTGAGACAGGAGAATTGCTTGAACCCAGGGGGTGGAGGTTGTAGTGAGCTGAGATCATACCATGGCACTCCAACTTGGGCAACAGAGTGAGACTCTGTCTCAAAAAAGAAAAGAAAAGGGACCCAGTCATGGTACTTACCCTGAAAGTTTGGGTTTAACACAGAATCGGACATCCAGTAAACATTTAATGAACGTTAGTCCCTGCAGTGAGATAGATGAGTCCCCACCCTGTGTTGTACGGGGGAGGACACAGTGGTGGGCGTGGCATGGAGCTTATGCCAGGAGGTGGGGTGAAATTAATCAAAGCAAAGAAATGCACAAGTGAAATCCGTGTTTGTGGCCCAAGTTAGCAGGGCCCTGCCCCACCCCAGTGGACATCTGCAGGGCCCTCCCTGTCCTCTTCCAGGGCCTGTGCCCTGAGGGAGATACACCCCAACCCCCATCCTAGCCATGCCAACCTCTACTACCCTCTCCCCAGCTCATCCTGTTTGGGCTCAGTAATCAGCTGGCTGTGACATTCCGGGAAGAGAACACCATCGCCTTCCGACACCTCTTCCTGCTGGGCTACTCGGACGGAGCGGATGACACCTTCGCAGCCTACACGCGGGAGCAGCTGTACCAGGCCATCTTCCATGCTGTGGACCAGGTGCTGGTGGGCGGGCAGGTGCTGGTGGGCAGGCAGGTGCAGGTGGGCGGGCAGGTGCAGTTGGGCGGGCAGGTGCTGGTGGGCGGGCAGGTGCAGGTGGGTGGGCTGCAGAGAGCGGGCCGGACTCACAGGCCCTCCCCTTCTCTGCCCACAGTACCTGGCGTTGCCTGACGTGTCACTGGGCCGGTATGCGTATGTCCGTGGTGGGGGTGACCCTTGGACCAATGGCTCAGGGCTTGCTCTCTGCCAGCGGTACTACCACCGAGGCCACGTGGACCCGGCCAACGACACATTTGACATTGATCCGATGGTGGTTACTGGTGAGTGGGCAGGACGAGGCTTCACTGTTGGGAGCCTGAGCTGCTGGGATTAAAATCAACAGCTGTGGCTGGGCACGGTGGCTCACGCCTATAATACC | pathogenic | 295,015 |
A genetic alteration at chromosome 19, position 7527554, in gene MCOLN1 (mucolipin TRP cation channel 1)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Mucolipidosis_type_IV'] | CCGACTCTGAGGCTCAGAGAGGTTAGGAGACTTGCCCAAAGTCACACAGCAATAGAACATTGGGAGCTGGGATTTGAACCCAGGCAGTCTGACACCATGTTGACCCAATGGCTGCACAGATAGTTCTCCCTCCCCCATGCCAGACCCTGTGCTGGGCTCTGGGAACCCCAAGATGAATCAGACCCAGCCACTGCCCTAAGTGCTTACTTCATGTTTTGGGCTGACTTTAGCATGTCACCATGCCTCTAATTTTCCCTCTGAAAAGGGACCCAATTGTCCAGGCATGGTGGCTCATGCCTGTAATGCCAGCACTTTGGGAGGCTGAGTTGGGTGGATCATTTGAGGCCAGGAGTTTGAGACCAGCCTGGCCAACATTGCAAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGTTTGGTGGCAGGTACCTGTAACTCAGCTACTCAGGAGGCTGAGACAGGAGAATTGCTTGAACCCAGGGGGTGGAGGTTGTAGTGAGCTGAGATCATACCATGGCACTCCAACTTGGGCAACAGAGTGAGACTCTGTCTCAAAAAAGAAAAGAAAAGGGACCCAGTCATGGTACTTACCCTGAAAGTTTGGGTTTAACACAGAATCGGACATCCAGTAAACATTTAATGAACGTTAGTCCCTGCAGTGAGATAGATGAGTCCCCACCCTGTGTTGTACGGGGGAGGACACAGTGGTGGGCGTGGCATGGAGCTTATGCCAGGAGGTGGGGTGAAATTAATCAAAGCAAAGAAATGCACAAGTGAAATCCGTGTTTGTGGCCCAAGTTAGCAGGGCCCTGCCCCACCCCAGTGGACATCTGCAGGGCCCTCCCTGTCCTCTTCCAGGGCCTGTGCCCTGAGGGAGATACACCCCAACCCCCATCCTAGCCATGCCAACCTCTACTACCCTCTCCCCAGCTCATCCTGTTTGGGCTCAGTAATCAGCTGGCTGTGACATTCCGGGAAGAGAACACCATCGCCTTCCGACACCTCTTCCTGCTGGGCTACTCGGACGGAGCGGATGACACCTTCGCAGCCTACACGCGGGAGCAGCTGTACCAGGCCATCTTCCATGCTGTGGACCAGGTGCTGGTGGGCGGGCAGGTGCTGGTGGGCAGGCAGGTGCAGGTGGGCGGGCAGGTGCAGTTGGGCGGGCAGGTGCTGGTGGGCGGGCAGGTGCAGGTGGGTGGGCTGCAGAGAGCGGGCCGGACTCACAGGCCCTCCCCTTCTCTGCCCACAGTACCTGGCGTTGCCTGACGTGTCACTGGGCCGGTATGCGTATGTCCGTGGTGGGGGTGACCCTTGGACCAATGGCTCAGGGCTTGCTCTCTGCCAGCGGTACTACCACCGAGGCCACGTGGACCCGGCCAACGACACATTTGACATTGATCCGATGGTGGTTACTGGTGAGTGGGCAGGACGAGGCTTCACTGTTGGGAGCCTGAGCTGCTGGGATTAAAATCAACAGCTGTGGCTGGGCACGGTGGCTCACGCCTATAATACCAGCACTTTGGGAGGCTGAGGAGGAAGGATTGCTTGAGGCCAGAAGTTTGAGACCAGCCTGGGCCACGTAGGAAGACCTTGTCTCTACGCACAAACAAATTAGCTGGGCGTGGTGGCGTGCCCCTGTGGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGGATCGCTTGAGTCCGGGAGGTTGAGGCTGCAGTAAGCTATGACCACGCTGCTGCACTCCACCCTGGGTGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAACAAGTATGCTTAGTGTGAGTGTGACTCTTGCCACGTAGAAAGCACCAGATGTTATATTTTAATATGGCTCATTCAGTAAAACATCCGCAGGCCCAGAGAGTGCCAGGCCTGTAGGAATGACCCAACCCTGGGGAAGCACAGGGAAGAAGGCCACTGGGGACTCTGGGGAGACCAGCCTGGCCTCCCCGGCCCCCTGAGGCCCTTCCCTGACTCCCTGTCCTTAGACTGCATCCAGGTGGATCCCCCCGAGCGGCCCCCTCCGCCCCCCAGCGACGATCTCACCCTCTTGGAAAGCAGCTCCAGTTACAAGAACCTCACGCTCAAATTCCACAAGTACTGCCTGCTCACTCGAGGGGGGCCCAGGGTGGGGGAGGCAGCACACTAGGCACTCTCACCCCAGCAACTACTTCCCTAAGGTGGGGACAGGGCCCCCCCGCCCGCGCTGGTGCCTGCTGGGTGAGCACTTCCCCTGCCAGCTGCAGAGTCAGCACGTGGCAGGGGACGCTGGCACTTGGGGCCGGAAGGGACCCGAAGACGCCCCTGACCCTCACCCGAGCCTCCTGCCTAGGCTGGTCAATGTCACCATCCACTTCCGGCTGAAGACCATTAACCTCCAGAGCCTCATCAATAATGAGATCCCGGACTGCTATACCTTCAGCGTCCTGGTGAGGCCCCCCGGGAACCCACAGGGCTCCTGAGTTCCAGGGCAGGGACCTGGTCAGGGAGTGTCTTGGGAGCACTGGCCAAGGGCAAGCGTGCGGGTGATGAGGGAGGGAGCCCGGGGTCTGTCAGGCCACCTGTCATGTGGACCTTGGGGCTTGGGGCTGCCAAGGTTTACTCTGCCCCCAACTGGCCCCCACAGATCACGTTTGACAACAAAGCACACAGTGGGCGGATCCCCATCAGCCTGGAGACCCAGGCCCACATCCAGGAGTGTAAGCACCCCAGTGTCTTCCAGCACGGTGAGCCCCTGAGCCCCAGACCAGCACTGACCAGGGGCCCTGGCCTGTCCTGGGATTCCCCAAGCCCCAGATCAGCGCTGCCTGGGGGCCGTGACCTCCCCAGGAATCCGCTGAGCCTCAGATCAGCACAGACCAGGGACCCCGTCCTGTGCTGAGATCCCCCAAGCCCCAGACCAGCACTGACCGGGGTTCTTGACTCACCCCAAGCAAGCCCTGAGCCCACTGACCAACCAAAACCAGCCGTGCAGCCCCCTAGGTCTCCAGCCTGGCCTGGCACCAATGCTAGCCTCCCAAGGCTCCATGCCATCCTTGGCCCTACCCGCTCTGCCCTCCCCGCAGGAGACAACAGCTTCCGGCTCCTGTTTGACGTGGTGGTCATCCTCACCTGCTCCCTGTCCTTCCTCCTCTGCGCCCGCTCACTCCTTCGAGGCTTCCTGCTGCAGAACGTGAGGCTTCTGCGTCATGTGTGCTGGTGTCCTCCCCGCCTGGCCCTGGGGCGATAAAAGCCAGGGCTTTGAGGGTCCTGTGCCTGGTCAGGCCCTCACCCCGCCTGCCTTCTGCAGGAGTTTGTGGGGTTCATGTGGCGGCAGCGGGGACGGGTCATCAGCCTGTGGGAGCGGCTGGAATTTGTCAATGGCTGGTACATCCTGCTCGTCACCAGCGATGTGCTCACCATCTCGGGCACCATCATGAAGATCGGCATCGAGGCCAAGGTGCGTCCTGCCAACACCCTGGGCCCCAGGTCCCATCCCTGCTGTCAGTGCCTATCCGGGGCCATATCCTCCCCCAGGCCCCCCAAAGGAAGGGCTGGGCCAGATAGGTTGACGCAGCTCCCACCCGCAGAACTTGGCGAGCTACGACGTCTGCAGCATCCTCCTGGGCACCTCGACGCTGCTGGTGTGGGTGGGCGTGATCCGCTACCTGACCTTCTTCCACAACTACAATGTGAGTTTTGCACATGCAGCTGGGCCTTCCACATGGTTACTCCACACCCTCCAAATAAATCCCTACACACGCAGCCCTCACCAGCCCCGGCCAATGGCCCCTTGCAAGCCTCCTCCTCCTACCTGCCCACACCAGATATATCTGTCACTGCACCTGCGCGGGGCCCCGGGAGCCTGCTCCTTTGTGCCCACCCAGCTGAGTCTAGCCGTGCGTTGCCCTCGGACCCCCTCAGACGTGGCCACGCCCCCTCTAGGCACCCACTGGCTCCCATGACCACACCGGCTGTGCCCTCGGCAAGGCCCCGCCCCTCCCACCCCCATCTGGGTGCCCACAGCTGACCTGAGTTGTGGCCACACCCTCAACGAGGCTCCCTCTGCCCCAACCCAGATCCTCATCGCC | CCGACTCTGAGGCTCAGAGAGGTTAGGAGACTTGCCCAAAGTCACACAGCAATAGAACATTGGGAGCTGGGATTTGAACCCAGGCAGTCTGACACCATGTTGACCCAATGGCTGCACAGATAGTTCTCCCTCCCCCATGCCAGACCCTGTGCTGGGCTCTGGGAACCCCAAGATGAATCAGACCCAGCCACTGCCCTAAGTGCTTACTTCATGTTTTGGGCTGACTTTAGCATGTCACCATGCCTCTAATTTTCCCTCTGAAAAGGGACCCAATTGTCCAGGCATGGTGGCTCATGCCTGTAATGCCAGCACTTTGGGAGGCTGAGTTGGGTGGATCATTTGAGGCCAGGAGTTTGAGACCAGCCTGGCCAACATTGCAAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGTTTGGTGGCAGGTACCTGTAACTCAGCTACTCAGGAGGCTGAGACAGGAGAATTGCTTGAACCCAGGGGGTGGAGGTTGTAGTGAGCTGAGATCATACCATGGCACTCCAACTTGGGCAACAGAGTGAGACTCTGTCTCAAAAAAGAAAAGAAAAGGGACCCAGTCATGGTACTTACCCTGAAAGTTTGGGTTTAACACAGAATCGGACATCCAGTAAACATTTAATGAACGTTAGTCCCTGCAGTGAGATAGATGAGTCCCCACCCTGTGTTGTACGGGGGAGGACACAGTGGTGGGCGTGGCATGGAGCTTATGCCAGGAGGTGGGGTGAAATTAATCAAAGCAAAGAAATGCACAAGTGAAATCCGTGTTTGTGGCCCAAGTTAGCAGGGCCCTGCCCCACCCCAGTGGACATCTGCAGGGCCCTCCCTGTCCTCTTCCAGGGCCTGTGCCCTGAGGGAGATACACCCCAACCCCCATCCTAGCCATGCCAACCTCTACTACCCTCTCCCCAGCTCATCCTGTTTGGGCTCAGTAATCAGCTGGCTGTGACATTCCGGGAAGAGAACACCATCGCCTTCCGACACCTCTTCCTGCTGGGCTACTCGGACGGAGCGGATGACACCTTCGCAGCCTACACGCGGGAGCAGCTGTACCAGGCCATCTTCCATGCTGTGGACCAGGTGCTGGTGGGCGGGCAGGTGCTGGTGGGCAGGCAGGTGCAGGTGGGCGGGCAGGTGCAGTTGGGCGGGCAGGTGCTGGTGGGCGGGCAGGTGCAGGTGGGTGGGCTGCAGAGAGCGGGCCGGACTCACAGGCCCTCCCCTTCTCTGCCCACAGTACCTGGCGTTGCCTGACGTGTCACTGGGCCGGTATGCGTATGTCCGTGGTGGGGGTGACCCTTGGACCAATGGCTCAGGGCTTGCTCTCTGCCAGCGGTACTACCACCGAGGCCACGTGGACCCGGCCAACGACACATTTGACATTGATCCGATGGTGGTTACTGGTGAGTGGGCAGGACGAGGCTTCACTGTTGGGAGCCTGAGCTGCTGGGATTAAAATCAACAGCTGTGGCTGGGCACGGTGGCTCACGCCTATAATACCAGCACTTTGGGAGGCTGAGGAGGAAGGATTGCTTGAGGCCAGAAGTTTGAGACCAGCCTGGGCCACGTAGGAAGACCTTGTCTCTACGCACAAACAAATTAGCTGGGCGTGGTGGCGTGCCCCTGTGGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGGATCGCTTGAGTCCGGGAGGTTGAGGCTGCAGTAAGCTATGACCACGCTGCTGCACTCCACCCTGGGTGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAACAAGTATGCTTAGTGTGAGTGTGACTCTTGCCACGTAGAAAGCACCAGATGTTATATTTTAATATGGCTCATTCAGTAAAACATCCGCAGGCCCAGAGAGTGCCAGGCCTGTAGGAATGACCCAACCCTGGGGAAGCACAGGGAAGAAGGCCACTGGGGACTCTGGGGAGACCAGCCTGGCCTCCCCGGCCCCCTGAGGCCCTTCCCTGACTCCCTGTCCTTAGACTGCATCCAGGTGGATCCCCCCGAGCGGCCCCCTCGCCCCCCAGCGACGATCTCACCCTCTTGGAAAGCAGCTCCAGTTACAAGAACCTCACGCTCAAATTCCACAAGTACTGCCTGCTCACTCGAGGGGGGCCCAGGGTGGGGGAGGCAGCACACTAGGCACTCTCACCCCAGCAACTACTTCCCTAAGGTGGGGACAGGGCCCCCCCGCCCGCGCTGGTGCCTGCTGGGTGAGCACTTCCCCTGCCAGCTGCAGAGTCAGCACGTGGCAGGGGACGCTGGCACTTGGGGCCGGAAGGGACCCGAAGACGCCCCTGACCCTCACCCGAGCCTCCTGCCTAGGCTGGTCAATGTCACCATCCACTTCCGGCTGAAGACCATTAACCTCCAGAGCCTCATCAATAATGAGATCCCGGACTGCTATACCTTCAGCGTCCTGGTGAGGCCCCCCGGGAACCCACAGGGCTCCTGAGTTCCAGGGCAGGGACCTGGTCAGGGAGTGTCTTGGGAGCACTGGCCAAGGGCAAGCGTGCGGGTGATGAGGGAGGGAGCCCGGGGTCTGTCAGGCCACCTGTCATGTGGACCTTGGGGCTTGGGGCTGCCAAGGTTTACTCTGCCCCCAACTGGCCCCCACAGATCACGTTTGACAACAAAGCACACAGTGGGCGGATCCCCATCAGCCTGGAGACCCAGGCCCACATCCAGGAGTGTAAGCACCCCAGTGTCTTCCAGCACGGTGAGCCCCTGAGCCCCAGACCAGCACTGACCAGGGGCCCTGGCCTGTCCTGGGATTCCCCAAGCCCCAGATCAGCGCTGCCTGGGGGCCGTGACCTCCCCAGGAATCCGCTGAGCCTCAGATCAGCACAGACCAGGGACCCCGTCCTGTGCTGAGATCCCCCAAGCCCCAGACCAGCACTGACCGGGGTTCTTGACTCACCCCAAGCAAGCCCTGAGCCCACTGACCAACCAAAACCAGCCGTGCAGCCCCCTAGGTCTCCAGCCTGGCCTGGCACCAATGCTAGCCTCCCAAGGCTCCATGCCATCCTTGGCCCTACCCGCTCTGCCCTCCCCGCAGGAGACAACAGCTTCCGGCTCCTGTTTGACGTGGTGGTCATCCTCACCTGCTCCCTGTCCTTCCTCCTCTGCGCCCGCTCACTCCTTCGAGGCTTCCTGCTGCAGAACGTGAGGCTTCTGCGTCATGTGTGCTGGTGTCCTCCCCGCCTGGCCCTGGGGCGATAAAAGCCAGGGCTTTGAGGGTCCTGTGCCTGGTCAGGCCCTCACCCCGCCTGCCTTCTGCAGGAGTTTGTGGGGTTCATGTGGCGGCAGCGGGGACGGGTCATCAGCCTGTGGGAGCGGCTGGAATTTGTCAATGGCTGGTACATCCTGCTCGTCACCAGCGATGTGCTCACCATCTCGGGCACCATCATGAAGATCGGCATCGAGGCCAAGGTGCGTCCTGCCAACACCCTGGGCCCCAGGTCCCATCCCTGCTGTCAGTGCCTATCCGGGGCCATATCCTCCCCCAGGCCCCCCAAAGGAAGGGCTGGGCCAGATAGGTTGACGCAGCTCCCACCCGCAGAACTTGGCGAGCTACGACGTCTGCAGCATCCTCCTGGGCACCTCGACGCTGCTGGTGTGGGTGGGCGTGATCCGCTACCTGACCTTCTTCCACAACTACAATGTGAGTTTTGCACATGCAGCTGGGCCTTCCACATGGTTACTCCACACCCTCCAAATAAATCCCTACACACGCAGCCCTCACCAGCCCCGGCCAATGGCCCCTTGCAAGCCTCCTCCTCCTACCTGCCCACACCAGATATATCTGTCACTGCACCTGCGCGGGGCCCCGGGAGCCTGCTCCTTTGTGCCCACCCAGCTGAGTCTAGCCGTGCGTTGCCCTCGGACCCCCTCAGACGTGGCCACGCCCCCTCTAGGCACCCACTGGCTCCCATGACCACACCGGCTGTGCCCTCGGCAAGGCCCCGCCCCTCCCACCCCCATCTGGGTGCCCACAGCTGACCTGAGTTGTGGCCACACCCTCAACGAGGCTCCCTCTGCCCCAACCCAGATCCTCATCGCCN | pathogenic | 295,041 |
Gene mutation in MCOLN1 (mucolipin TRP cation channel 1) at chromosome 19, position 7527557—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Mucolipidosis_type_IV'] | ACTCTGAGGCTCAGAGAGGTTAGGAGACTTGCCCAAAGTCACACAGCAATAGAACATTGGGAGCTGGGATTTGAACCCAGGCAGTCTGACACCATGTTGACCCAATGGCTGCACAGATAGTTCTCCCTCCCCCATGCCAGACCCTGTGCTGGGCTCTGGGAACCCCAAGATGAATCAGACCCAGCCACTGCCCTAAGTGCTTACTTCATGTTTTGGGCTGACTTTAGCATGTCACCATGCCTCTAATTTTCCCTCTGAAAAGGGACCCAATTGTCCAGGCATGGTGGCTCATGCCTGTAATGCCAGCACTTTGGGAGGCTGAGTTGGGTGGATCATTTGAGGCCAGGAGTTTGAGACCAGCCTGGCCAACATTGCAAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGTTTGGTGGCAGGTACCTGTAACTCAGCTACTCAGGAGGCTGAGACAGGAGAATTGCTTGAACCCAGGGGGTGGAGGTTGTAGTGAGCTGAGATCATACCATGGCACTCCAACTTGGGCAACAGAGTGAGACTCTGTCTCAAAAAAGAAAAGAAAAGGGACCCAGTCATGGTACTTACCCTGAAAGTTTGGGTTTAACACAGAATCGGACATCCAGTAAACATTTAATGAACGTTAGTCCCTGCAGTGAGATAGATGAGTCCCCACCCTGTGTTGTACGGGGGAGGACACAGTGGTGGGCGTGGCATGGAGCTTATGCCAGGAGGTGGGGTGAAATTAATCAAAGCAAAGAAATGCACAAGTGAAATCCGTGTTTGTGGCCCAAGTTAGCAGGGCCCTGCCCCACCCCAGTGGACATCTGCAGGGCCCTCCCTGTCCTCTTCCAGGGCCTGTGCCCTGAGGGAGATACACCCCAACCCCCATCCTAGCCATGCCAACCTCTACTACCCTCTCCCCAGCTCATCCTGTTTGGGCTCAGTAATCAGCTGGCTGTGACATTCCGGGAAGAGAACACCATCGCCTTCCGACACCTCTTCCTGCTGGGCTACTCGGACGGAGCGGATGACACCTTCGCAGCCTACACGCGGGAGCAGCTGTACCAGGCCATCTTCCATGCTGTGGACCAGGTGCTGGTGGGCGGGCAGGTGCTGGTGGGCAGGCAGGTGCAGGTGGGCGGGCAGGTGCAGTTGGGCGGGCAGGTGCTGGTGGGCGGGCAGGTGCAGGTGGGTGGGCTGCAGAGAGCGGGCCGGACTCACAGGCCCTCCCCTTCTCTGCCCACAGTACCTGGCGTTGCCTGACGTGTCACTGGGCCGGTATGCGTATGTCCGTGGTGGGGGTGACCCTTGGACCAATGGCTCAGGGCTTGCTCTCTGCCAGCGGTACTACCACCGAGGCCACGTGGACCCGGCCAACGACACATTTGACATTGATCCGATGGTGGTTACTGGTGAGTGGGCAGGACGAGGCTTCACTGTTGGGAGCCTGAGCTGCTGGGATTAAAATCAACAGCTGTGGCTGGGCACGGTGGCTCACGCCTATAATACCAGCACTTTGGGAGGCTGAGGAGGAAGGATTGCTTGAGGCCAGAAGTTTGAGACCAGCCTGGGCCACGTAGGAAGACCTTGTCTCTACGCACAAACAAATTAGCTGGGCGTGGTGGCGTGCCCCTGTGGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGGATCGCTTGAGTCCGGGAGGTTGAGGCTGCAGTAAGCTATGACCACGCTGCTGCACTCCACCCTGGGTGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAACAAGTATGCTTAGTGTGAGTGTGACTCTTGCCACGTAGAAAGCACCAGATGTTATATTTTAATATGGCTCATTCAGTAAAACATCCGCAGGCCCAGAGAGTGCCAGGCCTGTAGGAATGACCCAACCCTGGGGAAGCACAGGGAAGAAGGCCACTGGGGACTCTGGGGAGACCAGCCTGGCCTCCCCGGCCCCCTGAGGCCCTTCCCTGACTCCCTGTCCTTAGACTGCATCCAGGTGGATCCCCCCGAGCGGCCCCCTCCGCCCCCCAGCGACGATCTCACCCTCTTGGAAAGCAGCTCCAGTTACAAGAACCTCACGCTCAAATTCCACAAGTACTGCCTGCTCACTCGAGGGGGGCCCAGGGTGGGGGAGGCAGCACACTAGGCACTCTCACCCCAGCAACTACTTCCCTAAGGTGGGGACAGGGCCCCCCCGCCCGCGCTGGTGCCTGCTGGGTGAGCACTTCCCCTGCCAGCTGCAGAGTCAGCACGTGGCAGGGGACGCTGGCACTTGGGGCCGGAAGGGACCCGAAGACGCCCCTGACCCTCACCCGAGCCTCCTGCCTAGGCTGGTCAATGTCACCATCCACTTCCGGCTGAAGACCATTAACCTCCAGAGCCTCATCAATAATGAGATCCCGGACTGCTATACCTTCAGCGTCCTGGTGAGGCCCCCCGGGAACCCACAGGGCTCCTGAGTTCCAGGGCAGGGACCTGGTCAGGGAGTGTCTTGGGAGCACTGGCCAAGGGCAAGCGTGCGGGTGATGAGGGAGGGAGCCCGGGGTCTGTCAGGCCACCTGTCATGTGGACCTTGGGGCTTGGGGCTGCCAAGGTTTACTCTGCCCCCAACTGGCCCCCACAGATCACGTTTGACAACAAAGCACACAGTGGGCGGATCCCCATCAGCCTGGAGACCCAGGCCCACATCCAGGAGTGTAAGCACCCCAGTGTCTTCCAGCACGGTGAGCCCCTGAGCCCCAGACCAGCACTGACCAGGGGCCCTGGCCTGTCCTGGGATTCCCCAAGCCCCAGATCAGCGCTGCCTGGGGGCCGTGACCTCCCCAGGAATCCGCTGAGCCTCAGATCAGCACAGACCAGGGACCCCGTCCTGTGCTGAGATCCCCCAAGCCCCAGACCAGCACTGACCGGGGTTCTTGACTCACCCCAAGCAAGCCCTGAGCCCACTGACCAACCAAAACCAGCCGTGCAGCCCCCTAGGTCTCCAGCCTGGCCTGGCACCAATGCTAGCCTCCCAAGGCTCCATGCCATCCTTGGCCCTACCCGCTCTGCCCTCCCCGCAGGAGACAACAGCTTCCGGCTCCTGTTTGACGTGGTGGTCATCCTCACCTGCTCCCTGTCCTTCCTCCTCTGCGCCCGCTCACTCCTTCGAGGCTTCCTGCTGCAGAACGTGAGGCTTCTGCGTCATGTGTGCTGGTGTCCTCCCCGCCTGGCCCTGGGGCGATAAAAGCCAGGGCTTTGAGGGTCCTGTGCCTGGTCAGGCCCTCACCCCGCCTGCCTTCTGCAGGAGTTTGTGGGGTTCATGTGGCGGCAGCGGGGACGGGTCATCAGCCTGTGGGAGCGGCTGGAATTTGTCAATGGCTGGTACATCCTGCTCGTCACCAGCGATGTGCTCACCATCTCGGGCACCATCATGAAGATCGGCATCGAGGCCAAGGTGCGTCCTGCCAACACCCTGGGCCCCAGGTCCCATCCCTGCTGTCAGTGCCTATCCGGGGCCATATCCTCCCCCAGGCCCCCCAAAGGAAGGGCTGGGCCAGATAGGTTGACGCAGCTCCCACCCGCAGAACTTGGCGAGCTACGACGTCTGCAGCATCCTCCTGGGCACCTCGACGCTGCTGGTGTGGGTGGGCGTGATCCGCTACCTGACCTTCTTCCACAACTACAATGTGAGTTTTGCACATGCAGCTGGGCCTTCCACATGGTTACTCCACACCCTCCAAATAAATCCCTACACACGCAGCCCTCACCAGCCCCGGCCAATGGCCCCTTGCAAGCCTCCTCCTCCTACCTGCCCACACCAGATATATCTGTCACTGCACCTGCGCGGGGCCCCGGGAGCCTGCTCCTTTGTGCCCACCCAGCTGAGTCTAGCCGTGCGTTGCCCTCGGACCCCCTCAGACGTGGCCACGCCCCCTCTAGGCACCCACTGGCTCCCATGACCACACCGGCTGTGCCCTCGGCAAGGCCCCGCCCCTCCCACCCCCATCTGGGTGCCCACAGCTGACCTGAGTTGTGGCCACACCCTCAACGAGGCTCCCTCTGCCCCAACCCAGATCCTCATCGCCACA | ACTCTGAGGCTCAGAGAGGTTAGGAGACTTGCCCAAAGTCACACAGCAATAGAACATTGGGAGCTGGGATTTGAACCCAGGCAGTCTGACACCATGTTGACCCAATGGCTGCACAGATAGTTCTCCCTCCCCCATGCCAGACCCTGTGCTGGGCTCTGGGAACCCCAAGATGAATCAGACCCAGCCACTGCCCTAAGTGCTTACTTCATGTTTTGGGCTGACTTTAGCATGTCACCATGCCTCTAATTTTCCCTCTGAAAAGGGACCCAATTGTCCAGGCATGGTGGCTCATGCCTGTAATGCCAGCACTTTGGGAGGCTGAGTTGGGTGGATCATTTGAGGCCAGGAGTTTGAGACCAGCCTGGCCAACATTGCAAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGTTTGGTGGCAGGTACCTGTAACTCAGCTACTCAGGAGGCTGAGACAGGAGAATTGCTTGAACCCAGGGGGTGGAGGTTGTAGTGAGCTGAGATCATACCATGGCACTCCAACTTGGGCAACAGAGTGAGACTCTGTCTCAAAAAAGAAAAGAAAAGGGACCCAGTCATGGTACTTACCCTGAAAGTTTGGGTTTAACACAGAATCGGACATCCAGTAAACATTTAATGAACGTTAGTCCCTGCAGTGAGATAGATGAGTCCCCACCCTGTGTTGTACGGGGGAGGACACAGTGGTGGGCGTGGCATGGAGCTTATGCCAGGAGGTGGGGTGAAATTAATCAAAGCAAAGAAATGCACAAGTGAAATCCGTGTTTGTGGCCCAAGTTAGCAGGGCCCTGCCCCACCCCAGTGGACATCTGCAGGGCCCTCCCTGTCCTCTTCCAGGGCCTGTGCCCTGAGGGAGATACACCCCAACCCCCATCCTAGCCATGCCAACCTCTACTACCCTCTCCCCAGCTCATCCTGTTTGGGCTCAGTAATCAGCTGGCTGTGACATTCCGGGAAGAGAACACCATCGCCTTCCGACACCTCTTCCTGCTGGGCTACTCGGACGGAGCGGATGACACCTTCGCAGCCTACACGCGGGAGCAGCTGTACCAGGCCATCTTCCATGCTGTGGACCAGGTGCTGGTGGGCGGGCAGGTGCTGGTGGGCAGGCAGGTGCAGGTGGGCGGGCAGGTGCAGTTGGGCGGGCAGGTGCTGGTGGGCGGGCAGGTGCAGGTGGGTGGGCTGCAGAGAGCGGGCCGGACTCACAGGCCCTCCCCTTCTCTGCCCACAGTACCTGGCGTTGCCTGACGTGTCACTGGGCCGGTATGCGTATGTCCGTGGTGGGGGTGACCCTTGGACCAATGGCTCAGGGCTTGCTCTCTGCCAGCGGTACTACCACCGAGGCCACGTGGACCCGGCCAACGACACATTTGACATTGATCCGATGGTGGTTACTGGTGAGTGGGCAGGACGAGGCTTCACTGTTGGGAGCCTGAGCTGCTGGGATTAAAATCAACAGCTGTGGCTGGGCACGGTGGCTCACGCCTATAATACCAGCACTTTGGGAGGCTGAGGAGGAAGGATTGCTTGAGGCCAGAAGTTTGAGACCAGCCTGGGCCACGTAGGAAGACCTTGTCTCTACGCACAAACAAATTAGCTGGGCGTGGTGGCGTGCCCCTGTGGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGGATCGCTTGAGTCCGGGAGGTTGAGGCTGCAGTAAGCTATGACCACGCTGCTGCACTCCACCCTGGGTGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAACAAGTATGCTTAGTGTGAGTGTGACTCTTGCCACGTAGAAAGCACCAGATGTTATATTTTAATATGGCTCATTCAGTAAAACATCCGCAGGCCCAGAGAGTGCCAGGCCTGTAGGAATGACCCAACCCTGGGGAAGCACAGGGAAGAAGGCCACTGGGGACTCTGGGGAGACCAGCCTGGCCTCCCCGGCCCCCTGAGGCCCTTCCCTGACTCCCTGTCCTTAGACTGCATCCAGGTGGATCCCCCCGAGCGGCCCCCTCCGCCCCCCCAGCGACGATCTCACCCTCTTGGAAAGCAGCTCCAGTTACAAGAACCTCACGCTCAAATTCCACAAGTACTGCCTGCTCACTCGAGGGGGGCCCAGGGTGGGGGAGGCAGCACACTAGGCACTCTCACCCCAGCAACTACTTCCCTAAGGTGGGGACAGGGCCCCCCCGCCCGCGCTGGTGCCTGCTGGGTGAGCACTTCCCCTGCCAGCTGCAGAGTCAGCACGTGGCAGGGGACGCTGGCACTTGGGGCCGGAAGGGACCCGAAGACGCCCCTGACCCTCACCCGAGCCTCCTGCCTAGGCTGGTCAATGTCACCATCCACTTCCGGCTGAAGACCATTAACCTCCAGAGCCTCATCAATAATGAGATCCCGGACTGCTATACCTTCAGCGTCCTGGTGAGGCCCCCCGGGAACCCACAGGGCTCCTGAGTTCCAGGGCAGGGACCTGGTCAGGGAGTGTCTTGGGAGCACTGGCCAAGGGCAAGCGTGCGGGTGATGAGGGAGGGAGCCCGGGGTCTGTCAGGCCACCTGTCATGTGGACCTTGGGGCTTGGGGCTGCCAAGGTTTACTCTGCCCCCAACTGGCCCCCACAGATCACGTTTGACAACAAAGCACACAGTGGGCGGATCCCCATCAGCCTGGAGACCCAGGCCCACATCCAGGAGTGTAAGCACCCCAGTGTCTTCCAGCACGGTGAGCCCCTGAGCCCCAGACCAGCACTGACCAGGGGCCCTGGCCTGTCCTGGGATTCCCCAAGCCCCAGATCAGCGCTGCCTGGGGGCCGTGACCTCCCCAGGAATCCGCTGAGCCTCAGATCAGCACAGACCAGGGACCCCGTCCTGTGCTGAGATCCCCCAAGCCCCAGACCAGCACTGACCGGGGTTCTTGACTCACCCCAAGCAAGCCCTGAGCCCACTGACCAACCAAAACCAGCCGTGCAGCCCCCTAGGTCTCCAGCCTGGCCTGGCACCAATGCTAGCCTCCCAAGGCTCCATGCCATCCTTGGCCCTACCCGCTCTGCCCTCCCCGCAGGAGACAACAGCTTCCGGCTCCTGTTTGACGTGGTGGTCATCCTCACCTGCTCCCTGTCCTTCCTCCTCTGCGCCCGCTCACTCCTTCGAGGCTTCCTGCTGCAGAACGTGAGGCTTCTGCGTCATGTGTGCTGGTGTCCTCCCCGCCTGGCCCTGGGGCGATAAAAGCCAGGGCTTTGAGGGTCCTGTGCCTGGTCAGGCCCTCACCCCGCCTGCCTTCTGCAGGAGTTTGTGGGGTTCATGTGGCGGCAGCGGGGACGGGTCATCAGCCTGTGGGAGCGGCTGGAATTTGTCAATGGCTGGTACATCCTGCTCGTCACCAGCGATGTGCTCACCATCTCGGGCACCATCATGAAGATCGGCATCGAGGCCAAGGTGCGTCCTGCCAACACCCTGGGCCCCAGGTCCCATCCCTGCTGTCAGTGCCTATCCGGGGCCATATCCTCCCCCAGGCCCCCCAAAGGAAGGGCTGGGCCAGATAGGTTGACGCAGCTCCCACCCGCAGAACTTGGCGAGCTACGACGTCTGCAGCATCCTCCTGGGCACCTCGACGCTGCTGGTGTGGGTGGGCGTGATCCGCTACCTGACCTTCTTCCACAACTACAATGTGAGTTTTGCACATGCAGCTGGGCCTTCCACATGGTTACTCCACACCCTCCAAATAAATCCCTACACACGCAGCCCTCACCAGCCCCGGCCAATGGCCCCTTGCAAGCCTCCTCCTCCTACCTGCCCACACCAGATATATCTGTCACTGCACCTGCGCGGGGCCCCGGGAGCCTGCTCCTTTGTGCCCACCCAGCTGAGTCTAGCCGTGCGTTGCCCTCGGACCCCCTCAGACGTGGCCACGCCCCCTCTAGGCACCCACTGGCTCCCATGACCACACCGGCTGTGCCCTCGGCAAGGCCCCGCCCCTCCCACCCCCATCTGGGTGCCCACAGCTGACCTGAGTTGTGGCCACACCCTCAACGAGGCTCCCTCTGCCCCAACCCAGATCCTCATCGCCAC | pathogenic | 295,042 |
Gene MCOLN1 (mucolipin TRP cation channel 1) variant at chromosome position 7527966 on chromosome 19: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | benign | CTGGGTTTGGTGGCAGGTACCTGTAACTCAGCTACTCAGGAGGCTGAGACAGGAGAATTGCTTGAACCCAGGGGGTGGAGGTTGTAGTGAGCTGAGATCATACCATGGCACTCCAACTTGGGCAACAGAGTGAGACTCTGTCTCAAAAAAGAAAAGAAAAGGGACCCAGTCATGGTACTTACCCTGAAAGTTTGGGTTTAACACAGAATCGGACATCCAGTAAACATTTAATGAACGTTAGTCCCTGCAGTGAGATAGATGAGTCCCCACCCTGTGTTGTACGGGGGAGGACACAGTGGTGGGCGTGGCATGGAGCTTATGCCAGGAGGTGGGGTGAAATTAATCAAAGCAAAGAAATGCACAAGTGAAATCCGTGTTTGTGGCCCAAGTTAGCAGGGCCCTGCCCCACCCCAGTGGACATCTGCAGGGCCCTCCCTGTCCTCTTCCAGGGCCTGTGCCCTGAGGGAGATACACCCCAACCCCCATCCTAGCCATGCCAACCTCTACTACCCTCTCCCCAGCTCATCCTGTTTGGGCTCAGTAATCAGCTGGCTGTGACATTCCGGGAAGAGAACACCATCGCCTTCCGACACCTCTTCCTGCTGGGCTACTCGGACGGAGCGGATGACACCTTCGCAGCCTACACGCGGGAGCAGCTGTACCAGGCCATCTTCCATGCTGTGGACCAGGTGCTGGTGGGCGGGCAGGTGCTGGTGGGCAGGCAGGTGCAGGTGGGCGGGCAGGTGCAGTTGGGCGGGCAGGTGCTGGTGGGCGGGCAGGTGCAGGTGGGTGGGCTGCAGAGAGCGGGCCGGACTCACAGGCCCTCCCCTTCTCTGCCCACAGTACCTGGCGTTGCCTGACGTGTCACTGGGCCGGTATGCGTATGTCCGTGGTGGGGGTGACCCTTGGACCAATGGCTCAGGGCTTGCTCTCTGCCAGCGGTACTACCACCGAGGCCACGTGGACCCGGCCAACGACACATTTGACATTGATCCGATGGTGGTTACTGGTGAGTGGGCAGGACGAGGCTTCACTGTTGGGAGCCTGAGCTGCTGGGATTAAAATCAACAGCTGTGGCTGGGCACGGTGGCTCACGCCTATAATACCAGCACTTTGGGAGGCTGAGGAGGAAGGATTGCTTGAGGCCAGAAGTTTGAGACCAGCCTGGGCCACGTAGGAAGACCTTGTCTCTACGCACAAACAAATTAGCTGGGCGTGGTGGCGTGCCCCTGTGGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGGATCGCTTGAGTCCGGGAGGTTGAGGCTGCAGTAAGCTATGACCACGCTGCTGCACTCCACCCTGGGTGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAACAAGTATGCTTAGTGTGAGTGTGACTCTTGCCACGTAGAAAGCACCAGATGTTATATTTTAATATGGCTCATTCAGTAAAACATCCGCAGGCCCAGAGAGTGCCAGGCCTGTAGGAATGACCCAACCCTGGGGAAGCACAGGGAAGAAGGCCACTGGGGACTCTGGGGAGACCAGCCTGGCCTCCCCGGCCCCCTGAGGCCCTTCCCTGACTCCCTGTCCTTAGACTGCATCCAGGTGGATCCCCCCGAGCGGCCCCCTCCGCCCCCCAGCGACGATCTCACCCTCTTGGAAAGCAGCTCCAGTTACAAGAACCTCACGCTCAAATTCCACAAGTACTGCCTGCTCACTCGAGGGGGGCCCAGGGTGGGGGAGGCAGCACACTAGGCACTCTCACCCCAGCAACTACTTCCCTAAGGTGGGGACAGGGCCCCCCCGCCCGCGCTGGTGCCTGCTGGGTGAGCACTTCCCCTGCCAGCTGCAGAGTCAGCACGTGGCAGGGGACGCTGGCACTTGGGGCCGGAAGGGACCCGAAGACGCCCCTGACCCTCACCCGAGCCTCCTGCCTAGGCTGGTCAATGTCACCATCCACTTCCGGCTGAAGACCATTAACCTCCAGAGCCTCATCAATAATGAGATCCCGGACTGCTATACCTTCAGCGTCCTGGTGAGGCCCCCCGGGAACCCACAGGGCTCCTGAGTTCCAGGGCAGGGACCTGGTCAGGGAGTGTCTTGGGAGCACTGGCCAAGGGCAAGCGTGCGGGTGATGAGGGAGGGAGCCCGGGGTCTGTCAGGCCACCTGTCATGTGGACCTTGGGGCTTGGGGCTGCCAAGGTTTACTCTGCCCCCAACTGGCCCCCACAGATCACGTTTGACAACAAAGCACACAGTGGGCGGATCCCCATCAGCCTGGAGACCCAGGCCCACATCCAGGAGTGTAAGCACCCCAGTGTCTTCCAGCACGGTGAGCCCCTGAGCCCCAGACCAGCACTGACCAGGGGCCCTGGCCTGTCCTGGGATTCCCCAAGCCCCAGATCAGCGCTGCCTGGGGGCCGTGACCTCCCCAGGAATCCGCTGAGCCTCAGATCAGCACAGACCAGGGACCCCGTCCTGTGCTGAGATCCCCCAAGCCCCAGACCAGCACTGACCGGGGTTCTTGACTCACCCCAAGCAAGCCCTGAGCCCACTGACCAACCAAAACCAGCCGTGCAGCCCCCTAGGTCTCCAGCCTGGCCTGGCACCAATGCTAGCCTCCCAAGGCTCCATGCCATCCTTGGCCCTACCCGCTCTGCCCTCCCCGCAGGAGACAACAGCTTCCGGCTCCTGTTTGACGTGGTGGTCATCCTCACCTGCTCCCTGTCCTTCCTCCTCTGCGCCCGCTCACTCCTTCGAGGCTTCCTGCTGCAGAACGTGAGGCTTCTGCGTCATGTGTGCTGGTGTCCTCCCCGCCTGGCCCTGGGGCGATAAAAGCCAGGGCTTTGAGGGTCCTGTGCCTGGTCAGGCCCTCACCCCGCCTGCCTTCTGCAGGAGTTTGTGGGGTTCATGTGGCGGCAGCGGGGACGGGTCATCAGCCTGTGGGAGCGGCTGGAATTTGTCAATGGCTGGTACATCCTGCTCGTCACCAGCGATGTGCTCACCATCTCGGGCACCATCATGAAGATCGGCATCGAGGCCAAGGTGCGTCCTGCCAACACCCTGGGCCCCAGGTCCCATCCCTGCTGTCAGTGCCTATCCGGGGCCATATCCTCCCCCAGGCCCCCCAAAGGAAGGGCTGGGCCAGATAGGTTGACGCAGCTCCCACCCGCAGAACTTGGCGAGCTACGACGTCTGCAGCATCCTCCTGGGCACCTCGACGCTGCTGGTGTGGGTGGGCGTGATCCGCTACCTGACCTTCTTCCACAACTACAATGTGAGTTTTGCACATGCAGCTGGGCCTTCCACATGGTTACTCCACACCCTCCAAATAAATCCCTACACACGCAGCCCTCACCAGCCCCGGCCAATGGCCCCTTGCAAGCCTCCTCCTCCTACCTGCCCACACCAGATATATCTGTCACTGCACCTGCGCGGGGCCCCGGGAGCCTGCTCCTTTGTGCCCACCCAGCTGAGTCTAGCCGTGCGTTGCCCTCGGACCCCCTCAGACGTGGCCACGCCCCCTCTAGGCACCCACTGGCTCCCATGACCACACCGGCTGTGCCCTCGGCAAGGCCCCGCCCCTCCCACCCCCATCTGGGTGCCCACAGCTGACCTGAGTTGTGGCCACACCCTCAACGAGGCTCCCTCTGCCCCAACCCAGATCCTCATCGCCACACTGCGGGTGGCCCTGCCCAGCGTCATGCGCTTCTGCTGCTGCGTGGCTGTCATCTACCTGGGCTACTGCTTCTGTGGCTGGATCGTGCTGGGGCCCTATCATGTGAAGGTACATCTAACCCCTGATGTCCCTGACATTGACCCTGTGACCTTGTCATTGACACTGTGACCCCCAGATGACCCCTTGGTGACTGCTGGGAGTCTGTCCACTGTCCCCTGTGGTCCTTGGTGACCCTGACACTGACCCTGTGCCATTATTGTTGTCACAGTTGTTGATGACCCTATTTCGACCTGAATTACTCCCCTCCTGCTCTATCTACCCAGACCCTAGGTCGGCCCTGTGGCCCTGTCATTGACCCGTGGTCCCGGCCATTCACATGGGACCCCAGCCTGGGACCTGGCCATTCACA | CTGGGTTTGGTGGCAGGTACCTGTAACTCAGCTACTCAGGAGGCTGAGACAGGAGAATTGCTTGAACCCAGGGGGTGGAGGTTGTAGTGAGCTGAGATCATACCATGGCACTCCAACTTGGGCAACAGAGTGAGACTCTGTCTCAAAAAAGAAAAGAAAAGGGACCCAGTCATGGTACTTACCCTGAAAGTTTGGGTTTAACACAGAATCGGACATCCAGTAAACATTTAATGAACGTTAGTCCCTGCAGTGAGATAGATGAGTCCCCACCCTGTGTTGTACGGGGGAGGACACAGTGGTGGGCGTGGCATGGAGCTTATGCCAGGAGGTGGGGTGAAATTAATCAAAGCAAAGAAATGCACAAGTGAAATCCGTGTTTGTGGCCCAAGTTAGCAGGGCCCTGCCCCACCCCAGTGGACATCTGCAGGGCCCTCCCTGTCCTCTTCCAGGGCCTGTGCCCTGAGGGAGATACACCCCAACCCCCATCCTAGCCATGCCAACCTCTACTACCCTCTCCCCAGCTCATCCTGTTTGGGCTCAGTAATCAGCTGGCTGTGACATTCCGGGAAGAGAACACCATCGCCTTCCGACACCTCTTCCTGCTGGGCTACTCGGACGGAGCGGATGACACCTTCGCAGCCTACACGCGGGAGCAGCTGTACCAGGCCATCTTCCATGCTGTGGACCAGGTGCTGGTGGGCGGGCAGGTGCTGGTGGGCAGGCAGGTGCAGGTGGGCGGGCAGGTGCAGTTGGGCGGGCAGGTGCTGGTGGGCGGGCAGGTGCAGGTGGGTGGGCTGCAGAGAGCGGGCCGGACTCACAGGCCCTCCCCTTCTCTGCCCACAGTACCTGGCGTTGCCTGACGTGTCACTGGGCCGGTATGCGTATGTCCGTGGTGGGGGTGACCCTTGGACCAATGGCTCAGGGCTTGCTCTCTGCCAGCGGTACTACCACCGAGGCCACGTGGACCCGGCCAACGACACATTTGACATTGATCCGATGGTGGTTACTGGTGAGTGGGCAGGACGAGGCTTCACTGTTGGGAGCCTGAGCTGCTGGGATTAAAATCAACAGCTGTGGCTGGGCACGGTGGCTCACGCCTATAATACCAGCACTTTGGGAGGCTGAGGAGGAAGGATTGCTTGAGGCCAGAAGTTTGAGACCAGCCTGGGCCACGTAGGAAGACCTTGTCTCTACGCACAAACAAATTAGCTGGGCGTGGTGGCGTGCCCCTGTGGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGGATCGCTTGAGTCCGGGAGGTTGAGGCTGCAGTAAGCTATGACCACGCTGCTGCACTCCACCCTGGGTGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAACAAGTATGCTTAGTGTGAGTGTGACTCTTGCCACGTAGAAAGCACCAGATGTTATATTTTAATATGGCTCATTCAGTAAAACATCCGCAGGCCCAGAGAGTGCCAGGCCTGTAGGAATGACCCAACCCTGGGGAAGCACAGGGAAGAAGGCCACTGGGGACTCTGGGGAGACCAGCCTGGCCTCCCCGGCCCCCTGAGGCCCTTCCCTGACTCCCTGTCCTTAGACTGCATCCAGGTGGATCCCCCCGAGCGGCCCCCTCCGCCCCCCAGCGACGATCTCACCCTCTTGGAAAGCAGCTCCAGTTACAAGAACCTCACGCTCAAATTCCACAAGTACTGCCTGCTCACTCGAGGGGGGCCCAGGGTGGGGGAGGCAGCACACTAGGCACTCTCACCCCAGCAACTACTTCCCTAAGGTGGGGACAGGGCCCCCCCGCCCGCGCTGGTGCCTGCTGGGTGAGCACTTCCCCTGCCAGCTGCAGAGTCAGCACGTGGCAGGGGACGCTGGCACTTGGGGCCGGAAGGGACCCGAAGACGCCCCTGACCCTCACCCGAGCCTCCTGCCTAGGCTGGTCAATGTCACCATCCACTTCCGGCTGAAGACCATTAACCTCCAGAGCCTCATCAATAATGAGATCCCGGACTGCTATACCTTCAGCGTCCTGGTGAGGCCCCCCCGGGAACCCACAGGGCTCCTGAGTTCCAGGGCAGGGACCTGGTCAGGGAGTGTCTTGGGAGCACTGGCCAAGGGCAAGCGTGCGGGTGATGAGGGAGGGAGCCCGGGGTCTGTCAGGCCACCTGTCATGTGGACCTTGGGGCTTGGGGCTGCCAAGGTTTACTCTGCCCCCAACTGGCCCCCACAGATCACGTTTGACAACAAAGCACACAGTGGGCGGATCCCCATCAGCCTGGAGACCCAGGCCCACATCCAGGAGTGTAAGCACCCCAGTGTCTTCCAGCACGGTGAGCCCCTGAGCCCCAGACCAGCACTGACCAGGGGCCCTGGCCTGTCCTGGGATTCCCCAAGCCCCAGATCAGCGCTGCCTGGGGGCCGTGACCTCCCCAGGAATCCGCTGAGCCTCAGATCAGCACAGACCAGGGACCCCGTCCTGTGCTGAGATCCCCCAAGCCCCAGACCAGCACTGACCGGGGTTCTTGACTCACCCCAAGCAAGCCCTGAGCCCACTGACCAACCAAAACCAGCCGTGCAGCCCCCTAGGTCTCCAGCCTGGCCTGGCACCAATGCTAGCCTCCCAAGGCTCCATGCCATCCTTGGCCCTACCCGCTCTGCCCTCCCCGCAGGAGACAACAGCTTCCGGCTCCTGTTTGACGTGGTGGTCATCCTCACCTGCTCCCTGTCCTTCCTCCTCTGCGCCCGCTCACTCCTTCGAGGCTTCCTGCTGCAGAACGTGAGGCTTCTGCGTCATGTGTGCTGGTGTCCTCCCCGCCTGGCCCTGGGGCGATAAAAGCCAGGGCTTTGAGGGTCCTGTGCCTGGTCAGGCCCTCACCCCGCCTGCCTTCTGCAGGAGTTTGTGGGGTTCATGTGGCGGCAGCGGGGACGGGTCATCAGCCTGTGGGAGCGGCTGGAATTTGTCAATGGCTGGTACATCCTGCTCGTCACCAGCGATGTGCTCACCATCTCGGGCACCATCATGAAGATCGGCATCGAGGCCAAGGTGCGTCCTGCCAACACCCTGGGCCCCAGGTCCCATCCCTGCTGTCAGTGCCTATCCGGGGCCATATCCTCCCCCAGGCCCCCCAAAGGAAGGGCTGGGCCAGATAGGTTGACGCAGCTCCCACCCGCAGAACTTGGCGAGCTACGACGTCTGCAGCATCCTCCTGGGCACCTCGACGCTGCTGGTGTGGGTGGGCGTGATCCGCTACCTGACCTTCTTCCACAACTACAATGTGAGTTTTGCACATGCAGCTGGGCCTTCCACATGGTTACTCCACACCCTCCAAATAAATCCCTACACACGCAGCCCTCACCAGCCCCGGCCAATGGCCCCTTGCAAGCCTCCTCCTCCTACCTGCCCACACCAGATATATCTGTCACTGCACCTGCGCGGGGCCCCGGGAGCCTGCTCCTTTGTGCCCACCCAGCTGAGTCTAGCCGTGCGTTGCCCTCGGACCCCCTCAGACGTGGCCACGCCCCCTCTAGGCACCCACTGGCTCCCATGACCACACCGGCTGTGCCCTCGGCAAGGCCCCGCCCCTCCCACCCCCATCTGGGTGCCCACAGCTGACCTGAGTTGTGGCCACACCCTCAACGAGGCTCCCTCTGCCCCAACCCAGATCCTCATCGCCACACTGCGGGTGGCCCTGCCCAGCGTCATGCGCTTCTGCTGCTGCGTGGCTGTCATCTACCTGGGCTACTGCTTCTGTGGCTGGATCGTGCTGGGGCCCTATCATGTGAAGGTACATCTAACCCCTGATGTCCCTGACATTGACCCTGTGACCTTGTCATTGACACTGTGACCCCCAGATGACCCCTTGGTGACTGCTGGGAGTCTGTCCACTGTCCCCTGTGGTCCTTGGTGACCCTGACACTGACCCTGTGCCATTATTGTTGTCACAGTTGTTGATGACCCTATTTCGACCTGAATTACTCCCCTCCTGCTCTATCTACCCAGACCCTAGGTCGGCCCTGTGGCCCTGTCATTGACCCGTGGTCCCGGCCATTCACATGGGACCCCAGCCTGGGACCTGGCCATTCAC | benign | 295,047 |
Variant in gene MCOLN1 (mucolipin TRP cation channel 1), located at chromosome 19 position 7528638: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Inborn_genetic_diseases', 'Lisch_epithelial_corneal_dystrophy', 'Mucolipidosis_type_IV'] | TCCATGCTGTGGACCAGGTGCTGGTGGGCGGGCAGGTGCTGGTGGGCAGGCAGGTGCAGGTGGGCGGGCAGGTGCAGTTGGGCGGGCAGGTGCTGGTGGGCGGGCAGGTGCAGGTGGGTGGGCTGCAGAGAGCGGGCCGGACTCACAGGCCCTCCCCTTCTCTGCCCACAGTACCTGGCGTTGCCTGACGTGTCACTGGGCCGGTATGCGTATGTCCGTGGTGGGGGTGACCCTTGGACCAATGGCTCAGGGCTTGCTCTCTGCCAGCGGTACTACCACCGAGGCCACGTGGACCCGGCCAACGACACATTTGACATTGATCCGATGGTGGTTACTGGTGAGTGGGCAGGACGAGGCTTCACTGTTGGGAGCCTGAGCTGCTGGGATTAAAATCAACAGCTGTGGCTGGGCACGGTGGCTCACGCCTATAATACCAGCACTTTGGGAGGCTGAGGAGGAAGGATTGCTTGAGGCCAGAAGTTTGAGACCAGCCTGGGCCACGTAGGAAGACCTTGTCTCTACGCACAAACAAATTAGCTGGGCGTGGTGGCGTGCCCCTGTGGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGGATCGCTTGAGTCCGGGAGGTTGAGGCTGCAGTAAGCTATGACCACGCTGCTGCACTCCACCCTGGGTGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAACAAGTATGCTTAGTGTGAGTGTGACTCTTGCCACGTAGAAAGCACCAGATGTTATATTTTAATATGGCTCATTCAGTAAAACATCCGCAGGCCCAGAGAGTGCCAGGCCTGTAGGAATGACCCAACCCTGGGGAAGCACAGGGAAGAAGGCCACTGGGGACTCTGGGGAGACCAGCCTGGCCTCCCCGGCCCCCTGAGGCCCTTCCCTGACTCCCTGTCCTTAGACTGCATCCAGGTGGATCCCCCCGAGCGGCCCCCTCCGCCCCCCAGCGACGATCTCACCCTCTTGGAAAGCAGCTCCAGTTACAAGAACCTCACGCTCAAATTCCACAAGTACTGCCTGCTCACTCGAGGGGGGCCCAGGGTGGGGGAGGCAGCACACTAGGCACTCTCACCCCAGCAACTACTTCCCTAAGGTGGGGACAGGGCCCCCCCGCCCGCGCTGGTGCCTGCTGGGTGAGCACTTCCCCTGCCAGCTGCAGAGTCAGCACGTGGCAGGGGACGCTGGCACTTGGGGCCGGAAGGGACCCGAAGACGCCCCTGACCCTCACCCGAGCCTCCTGCCTAGGCTGGTCAATGTCACCATCCACTTCCGGCTGAAGACCATTAACCTCCAGAGCCTCATCAATAATGAGATCCCGGACTGCTATACCTTCAGCGTCCTGGTGAGGCCCCCCGGGAACCCACAGGGCTCCTGAGTTCCAGGGCAGGGACCTGGTCAGGGAGTGTCTTGGGAGCACTGGCCAAGGGCAAGCGTGCGGGTGATGAGGGAGGGAGCCCGGGGTCTGTCAGGCCACCTGTCATGTGGACCTTGGGGCTTGGGGCTGCCAAGGTTTACTCTGCCCCCAACTGGCCCCCACAGATCACGTTTGACAACAAAGCACACAGTGGGCGGATCCCCATCAGCCTGGAGACCCAGGCCCACATCCAGGAGTGTAAGCACCCCAGTGTCTTCCAGCACGGTGAGCCCCTGAGCCCCAGACCAGCACTGACCAGGGGCCCTGGCCTGTCCTGGGATTCCCCAAGCCCCAGATCAGCGCTGCCTGGGGGCCGTGACCTCCCCAGGAATCCGCTGAGCCTCAGATCAGCACAGACCAGGGACCCCGTCCTGTGCTGAGATCCCCCAAGCCCCAGACCAGCACTGACCGGGGTTCTTGACTCACCCCAAGCAAGCCCTGAGCCCACTGACCAACCAAAACCAGCCGTGCAGCCCCCTAGGTCTCCAGCCTGGCCTGGCACCAATGCTAGCCTCCCAAGGCTCCATGCCATCCTTGGCCCTACCCGCTCTGCCCTCCCCGCAGGAGACAACAGCTTCCGGCTCCTGTTTGACGTGGTGGTCATCCTCACCTGCTCCCTGTCCTTCCTCCTCTGCGCCCGCTCACTCCTTCGAGGCTTCCTGCTGCAGAACGTGAGGCTTCTGCGTCATGTGTGCTGGTGTCCTCCCCGCCTGGCCCTGGGGCGATAAAAGCCAGGGCTTTGAGGGTCCTGTGCCTGGTCAGGCCCTCACCCCGCCTGCCTTCTGCAGGAGTTTGTGGGGTTCATGTGGCGGCAGCGGGGACGGGTCATCAGCCTGTGGGAGCGGCTGGAATTTGTCAATGGCTGGTACATCCTGCTCGTCACCAGCGATGTGCTCACCATCTCGGGCACCATCATGAAGATCGGCATCGAGGCCAAGGTGCGTCCTGCCAACACCCTGGGCCCCAGGTCCCATCCCTGCTGTCAGTGCCTATCCGGGGCCATATCCTCCCCCAGGCCCCCCAAAGGAAGGGCTGGGCCAGATAGGTTGACGCAGCTCCCACCCGCAGAACTTGGCGAGCTACGACGTCTGCAGCATCCTCCTGGGCACCTCGACGCTGCTGGTGTGGGTGGGCGTGATCCGCTACCTGACCTTCTTCCACAACTACAATGTGAGTTTTGCACATGCAGCTGGGCCTTCCACATGGTTACTCCACACCCTCCAAATAAATCCCTACACACGCAGCCCTCACCAGCCCCGGCCAATGGCCCCTTGCAAGCCTCCTCCTCCTACCTGCCCACACCAGATATATCTGTCACTGCACCTGCGCGGGGCCCCGGGAGCCTGCTCCTTTGTGCCCACCCAGCTGAGTCTAGCCGTGCGTTGCCCTCGGACCCCCTCAGACGTGGCCACGCCCCCTCTAGGCACCCACTGGCTCCCATGACCACACCGGCTGTGCCCTCGGCAAGGCCCCGCCCCTCCCACCCCCATCTGGGTGCCCACAGCTGACCTGAGTTGTGGCCACACCCTCAACGAGGCTCCCTCTGCCCCAACCCAGATCCTCATCGCCACACTGCGGGTGGCCCTGCCCAGCGTCATGCGCTTCTGCTGCTGCGTGGCTGTCATCTACCTGGGCTACTGCTTCTGTGGCTGGATCGTGCTGGGGCCCTATCATGTGAAGGTACATCTAACCCCTGATGTCCCTGACATTGACCCTGTGACCTTGTCATTGACACTGTGACCCCCAGATGACCCCTTGGTGACTGCTGGGAGTCTGTCCACTGTCCCCTGTGGTCCTTGGTGACCCTGACACTGACCCTGTGCCATTATTGTTGTCACAGTTGTTGATGACCCTATTTCGACCTGAATTACTCCCCTCCTGCTCTATCTACCCAGACCCTAGGTCGGCCCTGTGGCCCTGTCATTGACCCGTGGTCCCGGCCATTCACATGGGACCCCAGCCTGGGACCTGGCCATTCACATAGTGACCCCAGCCTGGGACCCGGCCATTCACGTGGGACCCCAGCCTGGGTCCCGGCCATTCACGTGGGACCCCAGCCTGGGACCCGGCCATTCACAGGGGCCCTAGCCTGGAACCCGACCATTCACATGGTGACCGCAGCCCGGGACCCGGCCATTCATGTGGGGCCCCAGCCACCAGCTCCTAGCCATTTGCATGGGACCCCAGCCTGACCCCAGCCCCCGGTTCCTGGCCATGCCTTGGCTCCCTCTGACCCCGCCGCCCCTCTGGCAGTTCCGCTCACTCTCCATGGTGTCTGAGTGCCTGTTCTCGCTCATCAATGGGGACGACATGTTTGTGACGTTCGCCGCCATGCAGGCGCAGCAGGGCCGCAGCAGCCTGGTGTGGCTCTTCTCCCAGCTCTACCTTTACTCCTTCATCAGCCTCTTCATCTACATGGTGCTCAGCCTCTTCATCGCGCTCATCACCGGCGCCTACGACACCATCAAGGTCAGCCGCATGCACCCAGCCCTGAGCTCGGGCTCTGGGTGCCCTGGAGTCTGCCATGAGGGGGTCTTGGGGACACCGCAGGGTGAACAGAGAAGACCCAGGAGAGAATATGGGAGACTCTATGAAACCAAAAAGAGGGTGGTTCAGAACTGGGGGGCGCAGGGGGATGTCAAGGTGGGCTTGG | TCCATGCTGTGGACCAGGTGCTGGTGGGCGGGCAGGTGCTGGTGGGCAGGCAGGTGCAGGTGGGCGGGCAGGTGCAGTTGGGCGGGCAGGTGCTGGTGGGCGGGCAGGTGCAGGTGGGTGGGCTGCAGAGAGCGGGCCGGACTCACAGGCCCTCCCCTTCTCTGCCCACAGTACCTGGCGTTGCCTGACGTGTCACTGGGCCGGTATGCGTATGTCCGTGGTGGGGGTGACCCTTGGACCAATGGCTCAGGGCTTGCTCTCTGCCAGCGGTACTACCACCGAGGCCACGTGGACCCGGCCAACGACACATTTGACATTGATCCGATGGTGGTTACTGGTGAGTGGGCAGGACGAGGCTTCACTGTTGGGAGCCTGAGCTGCTGGGATTAAAATCAACAGCTGTGGCTGGGCACGGTGGCTCACGCCTATAATACCAGCACTTTGGGAGGCTGAGGAGGAAGGATTGCTTGAGGCCAGAAGTTTGAGACCAGCCTGGGCCACGTAGGAAGACCTTGTCTCTACGCACAAACAAATTAGCTGGGCGTGGTGGCGTGCCCCTGTGGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGGATCGCTTGAGTCCGGGAGGTTGAGGCTGCAGTAAGCTATGACCACGCTGCTGCACTCCACCCTGGGTGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAACAAGTATGCTTAGTGTGAGTGTGACTCTTGCCACGTAGAAAGCACCAGATGTTATATTTTAATATGGCTCATTCAGTAAAACATCCGCAGGCCCAGAGAGTGCCAGGCCTGTAGGAATGACCCAACCCTGGGGAAGCACAGGGAAGAAGGCCACTGGGGACTCTGGGGAGACCAGCCTGGCCTCCCCGGCCCCCTGAGGCCCTTCCCTGACTCCCTGTCCTTAGACTGCATCCAGGTGGATCCCCCCGAGCGGCCCCCTCCGCCCCCCAGCGACGATCTCACCCTCTTGGAAAGCAGCTCCAGTTACAAGAACCTCACGCTCAAATTCCACAAGTACTGCCTGCTCACTCGAGGGGGGCCCAGGGTGGGGGAGGCAGCACACTAGGCACTCTCACCCCAGCAACTACTTCCCTAAGGTGGGGACAGGGCCCCCCCGCCCGCGCTGGTGCCTGCTGGGTGAGCACTTCCCCTGCCAGCTGCAGAGTCAGCACGTGGCAGGGGACGCTGGCACTTGGGGCCGGAAGGGACCCGAAGACGCCCCTGACCCTCACCCGAGCCTCCTGCCTAGGCTGGTCAATGTCACCATCCACTTCCGGCTGAAGACCATTAACCTCCAGAGCCTCATCAATAATGAGATCCCGGACTGCTATACCTTCAGCGTCCTGGTGAGGCCCCCCGGGAACCCACAGGGCTCCTGAGTTCCAGGGCAGGGACCTGGTCAGGGAGTGTCTTGGGAGCACTGGCCAAGGGCAAGCGTGCGGGTGATGAGGGAGGGAGCCCGGGGTCTGTCAGGCCACCTGTCATGTGGACCTTGGGGCTTGGGGCTGCCAAGGTTTACTCTGCCCCCAACTGGCCCCCACAGATCACGTTTGACAACAAAGCACACAGTGGGCGGATCCCCATCAGCCTGGAGACCCAGGCCCACATCCAGGAGTGTAAGCACCCCAGTGTCTTCCAGCACGGTGAGCCCCTGAGCCCCAGACCAGCACTGACCAGGGGCCCTGGCCTGTCCTGGGATTCCCCAAGCCCCAGATCAGCGCTGCCTGGGGGCCGTGACCTCCCCAGGAATCCGCTGAGCCTCAGATCAGCACAGACCAGGGACCCCGTCCTGTGCTGAGATCCCCCAAGCCCCAGACCAGCACTGACCGGGGTTCTTGACTCACCCCAAGCAAGCCCTGAGCCCACTGACCAACCAAAACCAGCCGTGCAGCCCCCTAGGTCTCCAGCCTGGCCTGGCACCAATGCTAGCCTCCCAAGGCTCCATGCCATCCTTGGCCCTACCCGCTCTGCCCTCCCCGCAGGAGACAACAGCTTCCGGCTCCTGTTTGACGTGGTGGTCATCCCACCTGCTCCCTGTCCTTCCTCCTCTGCGCCCGCTCACTCCTTCGAGGCTTCCTGCTGCAGAACGTGAGGCTTCTGCGTCATGTGTGCTGGTGTCCTCCCCGCCTGGCCCTGGGGCGATAAAAGCCAGGGCTTTGAGGGTCCTGTGCCTGGTCAGGCCCTCACCCCGCCTGCCTTCTGCAGGAGTTTGTGGGGTTCATGTGGCGGCAGCGGGGACGGGTCATCAGCCTGTGGGAGCGGCTGGAATTTGTCAATGGCTGGTACATCCTGCTCGTCACCAGCGATGTGCTCACCATCTCGGGCACCATCATGAAGATCGGCATCGAGGCCAAGGTGCGTCCTGCCAACACCCTGGGCCCCAGGTCCCATCCCTGCTGTCAGTGCCTATCCGGGGCCATATCCTCCCCCAGGCCCCCCAAAGGAAGGGCTGGGCCAGATAGGTTGACGCAGCTCCCACCCGCAGAACTTGGCGAGCTACGACGTCTGCAGCATCCTCCTGGGCACCTCGACGCTGCTGGTGTGGGTGGGCGTGATCCGCTACCTGACCTTCTTCCACAACTACAATGTGAGTTTTGCACATGCAGCTGGGCCTTCCACATGGTTACTCCACACCCTCCAAATAAATCCCTACACACGCAGCCCTCACCAGCCCCGGCCAATGGCCCCTTGCAAGCCTCCTCCTCCTACCTGCCCACACCAGATATATCTGTCACTGCACCTGCGCGGGGCCCCGGGAGCCTGCTCCTTTGTGCCCACCCAGCTGAGTCTAGCCGTGCGTTGCCCTCGGACCCCCTCAGACGTGGCCACGCCCCCTCTAGGCACCCACTGGCTCCCATGACCACACCGGCTGTGCCCTCGGCAAGGCCCCGCCCCTCCCACCCCCATCTGGGTGCCCACAGCTGACCTGAGTTGTGGCCACACCCTCAACGAGGCTCCCTCTGCCCCAACCCAGATCCTCATCGCCACACTGCGGGTGGCCCTGCCCAGCGTCATGCGCTTCTGCTGCTGCGTGGCTGTCATCTACCTGGGCTACTGCTTCTGTGGCTGGATCGTGCTGGGGCCCTATCATGTGAAGGTACATCTAACCCCTGATGTCCCTGACATTGACCCTGTGACCTTGTCATTGACACTGTGACCCCCAGATGACCCCTTGGTGACTGCTGGGAGTCTGTCCACTGTCCCCTGTGGTCCTTGGTGACCCTGACACTGACCCTGTGCCATTATTGTTGTCACAGTTGTTGATGACCCTATTTCGACCTGAATTACTCCCCTCCTGCTCTATCTACCCAGACCCTAGGTCGGCCCTGTGGCCCTGTCATTGACCCGTGGTCCCGGCCATTCACATGGGACCCCAGCCTGGGACCTGGCCATTCACATAGTGACCCCAGCCTGGGACCCGGCCATTCACGTGGGACCCCAGCCTGGGTCCCGGCCATTCACGTGGGACCCCAGCCTGGGACCCGGCCATTCACAGGGGCCCTAGCCTGGAACCCGACCATTCACATGGTGACCGCAGCCCGGGACCCGGCCATTCATGTGGGGCCCCAGCCACCAGCTCCTAGCCATTTGCATGGGACCCCAGCCTGACCCCAGCCCCCGGTTCCTGGCCATGCCTTGGCTCCCTCTGACCCCGCCGCCCCTCTGGCAGTTCCGCTCACTCTCCATGGTGTCTGAGTGCCTGTTCTCGCTCATCAATGGGGACGACATGTTTGTGACGTTCGCCGCCATGCAGGCGCAGCAGGGCCGCAGCAGCCTGGTGTGGCTCTTCTCCCAGCTCTACCTTTACTCCTTCATCAGCCTCTTCATCTACATGGTGCTCAGCCTCTTCATCGCGCTCATCACCGGCGCCTACGACACCATCAAGGTCAGCCGCATGCACCCAGCCCTGAGCTCGGGCTCTGGGTGCCCTGGAGTCTGCCATGAGGGGGTCTTGGGGACACCGCAGGGTGAACAGAGAAGACCCAGGAGAGAATATGGGAGACTCTATGAAACCAAAAAGAGGGTGGTTCAGAACTGGGGGGCGCAGGGGGATGTCAAGGTGGGCTTGGN | pathogenic | 295,051 |
Clinical significance of chromosome 19, position 7528683, gene MCOLN1 (mucolipin TRP cation channel 1): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Mucolipidosis_type_IV'] | GCAGGCAGGTGCAGGTGGGCGGGCAGGTGCAGTTGGGCGGGCAGGTGCTGGTGGGCGGGCAGGTGCAGGTGGGTGGGCTGCAGAGAGCGGGCCGGACTCACAGGCCCTCCCCTTCTCTGCCCACAGTACCTGGCGTTGCCTGACGTGTCACTGGGCCGGTATGCGTATGTCCGTGGTGGGGGTGACCCTTGGACCAATGGCTCAGGGCTTGCTCTCTGCCAGCGGTACTACCACCGAGGCCACGTGGACCCGGCCAACGACACATTTGACATTGATCCGATGGTGGTTACTGGTGAGTGGGCAGGACGAGGCTTCACTGTTGGGAGCCTGAGCTGCTGGGATTAAAATCAACAGCTGTGGCTGGGCACGGTGGCTCACGCCTATAATACCAGCACTTTGGGAGGCTGAGGAGGAAGGATTGCTTGAGGCCAGAAGTTTGAGACCAGCCTGGGCCACGTAGGAAGACCTTGTCTCTACGCACAAACAAATTAGCTGGGCGTGGTGGCGTGCCCCTGTGGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGGATCGCTTGAGTCCGGGAGGTTGAGGCTGCAGTAAGCTATGACCACGCTGCTGCACTCCACCCTGGGTGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAACAAGTATGCTTAGTGTGAGTGTGACTCTTGCCACGTAGAAAGCACCAGATGTTATATTTTAATATGGCTCATTCAGTAAAACATCCGCAGGCCCAGAGAGTGCCAGGCCTGTAGGAATGACCCAACCCTGGGGAAGCACAGGGAAGAAGGCCACTGGGGACTCTGGGGAGACCAGCCTGGCCTCCCCGGCCCCCTGAGGCCCTTCCCTGACTCCCTGTCCTTAGACTGCATCCAGGTGGATCCCCCCGAGCGGCCCCCTCCGCCCCCCAGCGACGATCTCACCCTCTTGGAAAGCAGCTCCAGTTACAAGAACCTCACGCTCAAATTCCACAAGTACTGCCTGCTCACTCGAGGGGGGCCCAGGGTGGGGGAGGCAGCACACTAGGCACTCTCACCCCAGCAACTACTTCCCTAAGGTGGGGACAGGGCCCCCCCGCCCGCGCTGGTGCCTGCTGGGTGAGCACTTCCCCTGCCAGCTGCAGAGTCAGCACGTGGCAGGGGACGCTGGCACTTGGGGCCGGAAGGGACCCGAAGACGCCCCTGACCCTCACCCGAGCCTCCTGCCTAGGCTGGTCAATGTCACCATCCACTTCCGGCTGAAGACCATTAACCTCCAGAGCCTCATCAATAATGAGATCCCGGACTGCTATACCTTCAGCGTCCTGGTGAGGCCCCCCGGGAACCCACAGGGCTCCTGAGTTCCAGGGCAGGGACCTGGTCAGGGAGTGTCTTGGGAGCACTGGCCAAGGGCAAGCGTGCGGGTGATGAGGGAGGGAGCCCGGGGTCTGTCAGGCCACCTGTCATGTGGACCTTGGGGCTTGGGGCTGCCAAGGTTTACTCTGCCCCCAACTGGCCCCCACAGATCACGTTTGACAACAAAGCACACAGTGGGCGGATCCCCATCAGCCTGGAGACCCAGGCCCACATCCAGGAGTGTAAGCACCCCAGTGTCTTCCAGCACGGTGAGCCCCTGAGCCCCAGACCAGCACTGACCAGGGGCCCTGGCCTGTCCTGGGATTCCCCAAGCCCCAGATCAGCGCTGCCTGGGGGCCGTGACCTCCCCAGGAATCCGCTGAGCCTCAGATCAGCACAGACCAGGGACCCCGTCCTGTGCTGAGATCCCCCAAGCCCCAGACCAGCACTGACCGGGGTTCTTGACTCACCCCAAGCAAGCCCTGAGCCCACTGACCAACCAAAACCAGCCGTGCAGCCCCCTAGGTCTCCAGCCTGGCCTGGCACCAATGCTAGCCTCCCAAGGCTCCATGCCATCCTTGGCCCTACCCGCTCTGCCCTCCCCGCAGGAGACAACAGCTTCCGGCTCCTGTTTGACGTGGTGGTCATCCTCACCTGCTCCCTGTCCTTCCTCCTCTGCGCCCGCTCACTCCTTCGAGGCTTCCTGCTGCAGAACGTGAGGCTTCTGCGTCATGTGTGCTGGTGTCCTCCCCGCCTGGCCCTGGGGCGATAAAAGCCAGGGCTTTGAGGGTCCTGTGCCTGGTCAGGCCCTCACCCCGCCTGCCTTCTGCAGGAGTTTGTGGGGTTCATGTGGCGGCAGCGGGGACGGGTCATCAGCCTGTGGGAGCGGCTGGAATTTGTCAATGGCTGGTACATCCTGCTCGTCACCAGCGATGTGCTCACCATCTCGGGCACCATCATGAAGATCGGCATCGAGGCCAAGGTGCGTCCTGCCAACACCCTGGGCCCCAGGTCCCATCCCTGCTGTCAGTGCCTATCCGGGGCCATATCCTCCCCCAGGCCCCCCAAAGGAAGGGCTGGGCCAGATAGGTTGACGCAGCTCCCACCCGCAGAACTTGGCGAGCTACGACGTCTGCAGCATCCTCCTGGGCACCTCGACGCTGCTGGTGTGGGTGGGCGTGATCCGCTACCTGACCTTCTTCCACAACTACAATGTGAGTTTTGCACATGCAGCTGGGCCTTCCACATGGTTACTCCACACCCTCCAAATAAATCCCTACACACGCAGCCCTCACCAGCCCCGGCCAATGGCCCCTTGCAAGCCTCCTCCTCCTACCTGCCCACACCAGATATATCTGTCACTGCACCTGCGCGGGGCCCCGGGAGCCTGCTCCTTTGTGCCCACCCAGCTGAGTCTAGCCGTGCGTTGCCCTCGGACCCCCTCAGACGTGGCCACGCCCCCTCTAGGCACCCACTGGCTCCCATGACCACACCGGCTGTGCCCTCGGCAAGGCCCCGCCCCTCCCACCCCCATCTGGGTGCCCACAGCTGACCTGAGTTGTGGCCACACCCTCAACGAGGCTCCCTCTGCCCCAACCCAGATCCTCATCGCCACACTGCGGGTGGCCCTGCCCAGCGTCATGCGCTTCTGCTGCTGCGTGGCTGTCATCTACCTGGGCTACTGCTTCTGTGGCTGGATCGTGCTGGGGCCCTATCATGTGAAGGTACATCTAACCCCTGATGTCCCTGACATTGACCCTGTGACCTTGTCATTGACACTGTGACCCCCAGATGACCCCTTGGTGACTGCTGGGAGTCTGTCCACTGTCCCCTGTGGTCCTTGGTGACCCTGACACTGACCCTGTGCCATTATTGTTGTCACAGTTGTTGATGACCCTATTTCGACCTGAATTACTCCCCTCCTGCTCTATCTACCCAGACCCTAGGTCGGCCCTGTGGCCCTGTCATTGACCCGTGGTCCCGGCCATTCACATGGGACCCCAGCCTGGGACCTGGCCATTCACATAGTGACCCCAGCCTGGGACCCGGCCATTCACGTGGGACCCCAGCCTGGGTCCCGGCCATTCACGTGGGACCCCAGCCTGGGACCCGGCCATTCACAGGGGCCCTAGCCTGGAACCCGACCATTCACATGGTGACCGCAGCCCGGGACCCGGCCATTCATGTGGGGCCCCAGCCACCAGCTCCTAGCCATTTGCATGGGACCCCAGCCTGACCCCAGCCCCCGGTTCCTGGCCATGCCTTGGCTCCCTCTGACCCCGCCGCCCCTCTGGCAGTTCCGCTCACTCTCCATGGTGTCTGAGTGCCTGTTCTCGCTCATCAATGGGGACGACATGTTTGTGACGTTCGCCGCCATGCAGGCGCAGCAGGGCCGCAGCAGCCTGGTGTGGCTCTTCTCCCAGCTCTACCTTTACTCCTTCATCAGCCTCTTCATCTACATGGTGCTCAGCCTCTTCATCGCGCTCATCACCGGCGCCTACGACACCATCAAGGTCAGCCGCATGCACCCAGCCCTGAGCTCGGGCTCTGGGTGCCCTGGAGTCTGCCATGAGGGGGTCTTGGGGACACCGCAGGGTGAACAGAGAAGACCCAGGAGAGAATATGGGAGACTCTATGAAACCAAAAAGAGGGTGGTTCAGAACTGGGGGGCGCAGGGGGATGTCAAGGTGGGCTTGGGCCAGGAGGGGGCCTGAGTCAGTCTTTGCCAACAGGGCAACCGAG | GCAGGCAGGTGCAGGTGGGCGGGCAGGTGCAGTTGGGCGGGCAGGTGCTGGTGGGCGGGCAGGTGCAGGTGGGTGGGCTGCAGAGAGCGGGCCGGACTCACAGGCCCTCCCCTTCTCTGCCCACAGTACCTGGCGTTGCCTGACGTGTCACTGGGCCGGTATGCGTATGTCCGTGGTGGGGGTGACCCTTGGACCAATGGCTCAGGGCTTGCTCTCTGCCAGCGGTACTACCACCGAGGCCACGTGGACCCGGCCAACGACACATTTGACATTGATCCGATGGTGGTTACTGGTGAGTGGGCAGGACGAGGCTTCACTGTTGGGAGCCTGAGCTGCTGGGATTAAAATCAACAGCTGTGGCTGGGCACGGTGGCTCACGCCTATAATACCAGCACTTTGGGAGGCTGAGGAGGAAGGATTGCTTGAGGCCAGAAGTTTGAGACCAGCCTGGGCCACGTAGGAAGACCTTGTCTCTACGCACAAACAAATTAGCTGGGCGTGGTGGCGTGCCCCTGTGGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGGATCGCTTGAGTCCGGGAGGTTGAGGCTGCAGTAAGCTATGACCACGCTGCTGCACTCCACCCTGGGTGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAACAAGTATGCTTAGTGTGAGTGTGACTCTTGCCACGTAGAAAGCACCAGATGTTATATTTTAATATGGCTCATTCAGTAAAACATCCGCAGGCCCAGAGAGTGCCAGGCCTGTAGGAATGACCCAACCCTGGGGAAGCACAGGGAAGAAGGCCACTGGGGACTCTGGGGAGACCAGCCTGGCCTCCCCGGCCCCCTGAGGCCCTTCCCTGACTCCCTGTCCTTAGACTGCATCCAGGTGGATCCCCCCGAGCGGCCCCCTCCGCCCCCCAGCGACGATCTCACCCTCTTGGAAAGCAGCTCCAGTTACAAGAACCTCACGCTCAAATTCCACAAGTACTGCCTGCTCACTCGAGGGGGGCCCAGGGTGGGGGAGGCAGCACACTAGGCACTCTCACCCCAGCAACTACTTCCCTAAGGTGGGGACAGGGCCCCCCCGCCCGCGCTGGTGCCTGCTGGGTGAGCACTTCCCCTGCCAGCTGCAGAGTCAGCACGTGGCAGGGGACGCTGGCACTTGGGGCCGGAAGGGACCCGAAGACGCCCCTGACCCTCACCCGAGCCTCCTGCCTAGGCTGGTCAATGTCACCATCCACTTCCGGCTGAAGACCATTAACCTCCAGAGCCTCATCAATAATGAGATCCCGGACTGCTATACCTTCAGCGTCCTGGTGAGGCCCCCCGGGAACCCACAGGGCTCCTGAGTTCCAGGGCAGGGACCTGGTCAGGGAGTGTCTTGGGAGCACTGGCCAAGGGCAAGCGTGCGGGTGATGAGGGAGGGAGCCCGGGGTCTGTCAGGCCACCTGTCATGTGGACCTTGGGGCTTGGGGCTGCCAAGGTTTACTCTGCCCCCAACTGGCCCCCACAGATCACGTTTGACAACAAAGCACACAGTGGGCGGATCCCCATCAGCCTGGAGACCCAGGCCCACATCCAGGAGTGTAAGCACCCCAGTGTCTTCCAGCACGGTGAGCCCCTGAGCCCCAGACCAGCACTGACCAGGGGCCCTGGCCTGTCCTGGGATTCCCCAAGCCCCAGATCAGCGCTGCCTGGGGGCCGTGACCTCCCCAGGAATCCGCTGAGCCTCAGATCAGCACAGACCAGGGACCCCGTCCTGTGCTGAGATCCCCCAAGCCCCAGACCAGCACTGACCGGGGTTCTTGACTCACCCCAAGCAAGCCCTGAGCCCACTGACCAACCAAAACCAGCCGTGCAGCCCCCTAGGTCTCCAGCCTGGCCTGGCACCAATGCTAGCCTCCCAAGGCTCCATGCCATCCTTGGCCCTACCCGCTCTGCCCTCCCCGCAGGAGACAACAGCTTCCGGCTCCTGTTTGACGTGGTGGTCATCCTCACCTGCTCCCTGTCCTTCCTCCTCTGCGCCCGCTCACTCCTTCGAGGCTTCTGCGTCATGTGTGCTGGTGTCCTCCCCGCCTGGCCCTGGGGCGATAAAAGCCAGGGCTTTGAGGGTCCTGTGCCTGGTCAGGCCCTCACCCCGCCTGCCTTCTGCAGGAGTTTGTGGGGTTCATGTGGCGGCAGCGGGGACGGGTCATCAGCCTGTGGGAGCGGCTGGAATTTGTCAATGGCTGGTACATCCTGCTCGTCACCAGCGATGTGCTCACCATCTCGGGCACCATCATGAAGATCGGCATCGAGGCCAAGGTGCGTCCTGCCAACACCCTGGGCCCCAGGTCCCATCCCTGCTGTCAGTGCCTATCCGGGGCCATATCCTCCCCCAGGCCCCCCAAAGGAAGGGCTGGGCCAGATAGGTTGACGCAGCTCCCACCCGCAGAACTTGGCGAGCTACGACGTCTGCAGCATCCTCCTGGGCACCTCGACGCTGCTGGTGTGGGTGGGCGTGATCCGCTACCTGACCTTCTTCCACAACTACAATGTGAGTTTTGCACATGCAGCTGGGCCTTCCACATGGTTACTCCACACCCTCCAAATAAATCCCTACACACGCAGCCCTCACCAGCCCCGGCCAATGGCCCCTTGCAAGCCTCCTCCTCCTACCTGCCCACACCAGATATATCTGTCACTGCACCTGCGCGGGGCCCCGGGAGCCTGCTCCTTTGTGCCCACCCAGCTGAGTCTAGCCGTGCGTTGCCCTCGGACCCCCTCAGACGTGGCCACGCCCCCTCTAGGCACCCACTGGCTCCCATGACCACACCGGCTGTGCCCTCGGCAAGGCCCCGCCCCTCCCACCCCCATCTGGGTGCCCACAGCTGACCTGAGTTGTGGCCACACCCTCAACGAGGCTCCCTCTGCCCCAACCCAGATCCTCATCGCCACACTGCGGGTGGCCCTGCCCAGCGTCATGCGCTTCTGCTGCTGCGTGGCTGTCATCTACCTGGGCTACTGCTTCTGTGGCTGGATCGTGCTGGGGCCCTATCATGTGAAGGTACATCTAACCCCTGATGTCCCTGACATTGACCCTGTGACCTTGTCATTGACACTGTGACCCCCAGATGACCCCTTGGTGACTGCTGGGAGTCTGTCCACTGTCCCCTGTGGTCCTTGGTGACCCTGACACTGACCCTGTGCCATTATTGTTGTCACAGTTGTTGATGACCCTATTTCGACCTGAATTACTCCCCTCCTGCTCTATCTACCCAGACCCTAGGTCGGCCCTGTGGCCCTGTCATTGACCCGTGGTCCCGGCCATTCACATGGGACCCCAGCCTGGGACCTGGCCATTCACATAGTGACCCCAGCCTGGGACCCGGCCATTCACGTGGGACCCCAGCCTGGGTCCCGGCCATTCACGTGGGACCCCAGCCTGGGACCCGGCCATTCACAGGGGCCCTAGCCTGGAACCCGACCATTCACATGGTGACCGCAGCCCGGGACCCGGCCATTCATGTGGGGCCCCAGCCACCAGCTCCTAGCCATTTGCATGGGACCCCAGCCTGACCCCAGCCCCCGGTTCCTGGCCATGCCTTGGCTCCCTCTGACCCCGCCGCCCCTCTGGCAGTTCCGCTCACTCTCCATGGTGTCTGAGTGCCTGTTCTCGCTCATCAATGGGGACGACATGTTTGTGACGTTCGCCGCCATGCAGGCGCAGCAGGGCCGCAGCAGCCTGGTGTGGCTCTTCTCCCAGCTCTACCTTTACTCCTTCATCAGCCTCTTCATCTACATGGTGCTCAGCCTCTTCATCGCGCTCATCACCGGCGCCTACGACACCATCAAGGTCAGCCGCATGCACCCAGCCCTGAGCTCGGGCTCTGGGTGCCCTGGAGTCTGCCATGAGGGGGTCTTGGGGACACCGCAGGGTGAACAGAGAAGACCCAGGAGAGAATATGGGAGACTCTATGAAACCAAAAAGAGGGTGGTTCAGAACTGGGGGGCGCAGGGGGATGTCAAGGTGGGCTTGGGCCAGGAGGGGGCCTGAGTCAGTCTTTGCCAACAGGGCAACCGAGNNNNNNNNNNNNNNNNNNNNNN | pathogenic | 295,053 |
Clinical classification of chromosome 19, position 7528881, gene MCOLN1 (mucolipin TRP cation channel 1): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Inborn_genetic_diseases', 'Mucolipidosis_type_IV'] | GGCTCAGGGCTTGCTCTCTGCCAGCGGTACTACCACCGAGGCCACGTGGACCCGGCCAACGACACATTTGACATTGATCCGATGGTGGTTACTGGTGAGTGGGCAGGACGAGGCTTCACTGTTGGGAGCCTGAGCTGCTGGGATTAAAATCAACAGCTGTGGCTGGGCACGGTGGCTCACGCCTATAATACCAGCACTTTGGGAGGCTGAGGAGGAAGGATTGCTTGAGGCCAGAAGTTTGAGACCAGCCTGGGCCACGTAGGAAGACCTTGTCTCTACGCACAAACAAATTAGCTGGGCGTGGTGGCGTGCCCCTGTGGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGGATCGCTTGAGTCCGGGAGGTTGAGGCTGCAGTAAGCTATGACCACGCTGCTGCACTCCACCCTGGGTGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAACAAGTATGCTTAGTGTGAGTGTGACTCTTGCCACGTAGAAAGCACCAGATGTTATATTTTAATATGGCTCATTCAGTAAAACATCCGCAGGCCCAGAGAGTGCCAGGCCTGTAGGAATGACCCAACCCTGGGGAAGCACAGGGAAGAAGGCCACTGGGGACTCTGGGGAGACCAGCCTGGCCTCCCCGGCCCCCTGAGGCCCTTCCCTGACTCCCTGTCCTTAGACTGCATCCAGGTGGATCCCCCCGAGCGGCCCCCTCCGCCCCCCAGCGACGATCTCACCCTCTTGGAAAGCAGCTCCAGTTACAAGAACCTCACGCTCAAATTCCACAAGTACTGCCTGCTCACTCGAGGGGGGCCCAGGGTGGGGGAGGCAGCACACTAGGCACTCTCACCCCAGCAACTACTTCCCTAAGGTGGGGACAGGGCCCCCCCGCCCGCGCTGGTGCCTGCTGGGTGAGCACTTCCCCTGCCAGCTGCAGAGTCAGCACGTGGCAGGGGACGCTGGCACTTGGGGCCGGAAGGGACCCGAAGACGCCCCTGACCCTCACCCGAGCCTCCTGCCTAGGCTGGTCAATGTCACCATCCACTTCCGGCTGAAGACCATTAACCTCCAGAGCCTCATCAATAATGAGATCCCGGACTGCTATACCTTCAGCGTCCTGGTGAGGCCCCCCGGGAACCCACAGGGCTCCTGAGTTCCAGGGCAGGGACCTGGTCAGGGAGTGTCTTGGGAGCACTGGCCAAGGGCAAGCGTGCGGGTGATGAGGGAGGGAGCCCGGGGTCTGTCAGGCCACCTGTCATGTGGACCTTGGGGCTTGGGGCTGCCAAGGTTTACTCTGCCCCCAACTGGCCCCCACAGATCACGTTTGACAACAAAGCACACAGTGGGCGGATCCCCATCAGCCTGGAGACCCAGGCCCACATCCAGGAGTGTAAGCACCCCAGTGTCTTCCAGCACGGTGAGCCCCTGAGCCCCAGACCAGCACTGACCAGGGGCCCTGGCCTGTCCTGGGATTCCCCAAGCCCCAGATCAGCGCTGCCTGGGGGCCGTGACCTCCCCAGGAATCCGCTGAGCCTCAGATCAGCACAGACCAGGGACCCCGTCCTGTGCTGAGATCCCCCAAGCCCCAGACCAGCACTGACCGGGGTTCTTGACTCACCCCAAGCAAGCCCTGAGCCCACTGACCAACCAAAACCAGCCGTGCAGCCCCCTAGGTCTCCAGCCTGGCCTGGCACCAATGCTAGCCTCCCAAGGCTCCATGCCATCCTTGGCCCTACCCGCTCTGCCCTCCCCGCAGGAGACAACAGCTTCCGGCTCCTGTTTGACGTGGTGGTCATCCTCACCTGCTCCCTGTCCTTCCTCCTCTGCGCCCGCTCACTCCTTCGAGGCTTCCTGCTGCAGAACGTGAGGCTTCTGCGTCATGTGTGCTGGTGTCCTCCCCGCCTGGCCCTGGGGCGATAAAAGCCAGGGCTTTGAGGGTCCTGTGCCTGGTCAGGCCCTCACCCCGCCTGCCTTCTGCAGGAGTTTGTGGGGTTCATGTGGCGGCAGCGGGGACGGGTCATCAGCCTGTGGGAGCGGCTGGAATTTGTCAATGGCTGGTACATCCTGCTCGTCACCAGCGATGTGCTCACCATCTCGGGCACCATCATGAAGATCGGCATCGAGGCCAAGGTGCGTCCTGCCAACACCCTGGGCCCCAGGTCCCATCCCTGCTGTCAGTGCCTATCCGGGGCCATATCCTCCCCCAGGCCCCCCAAAGGAAGGGCTGGGCCAGATAGGTTGACGCAGCTCCCACCCGCAGAACTTGGCGAGCTACGACGTCTGCAGCATCCTCCTGGGCACCTCGACGCTGCTGGTGTGGGTGGGCGTGATCCGCTACCTGACCTTCTTCCACAACTACAATGTGAGTTTTGCACATGCAGCTGGGCCTTCCACATGGTTACTCCACACCCTCCAAATAAATCCCTACACACGCAGCCCTCACCAGCCCCGGCCAATGGCCCCTTGCAAGCCTCCTCCTCCTACCTGCCCACACCAGATATATCTGTCACTGCACCTGCGCGGGGCCCCGGGAGCCTGCTCCTTTGTGCCCACCCAGCTGAGTCTAGCCGTGCGTTGCCCTCGGACCCCCTCAGACGTGGCCACGCCCCCTCTAGGCACCCACTGGCTCCCATGACCACACCGGCTGTGCCCTCGGCAAGGCCCCGCCCCTCCCACCCCCATCTGGGTGCCCACAGCTGACCTGAGTTGTGGCCACACCCTCAACGAGGCTCCCTCTGCCCCAACCCAGATCCTCATCGCCACACTGCGGGTGGCCCTGCCCAGCGTCATGCGCTTCTGCTGCTGCGTGGCTGTCATCTACCTGGGCTACTGCTTCTGTGGCTGGATCGTGCTGGGGCCCTATCATGTGAAGGTACATCTAACCCCTGATGTCCCTGACATTGACCCTGTGACCTTGTCATTGACACTGTGACCCCCAGATGACCCCTTGGTGACTGCTGGGAGTCTGTCCACTGTCCCCTGTGGTCCTTGGTGACCCTGACACTGACCCTGTGCCATTATTGTTGTCACAGTTGTTGATGACCCTATTTCGACCTGAATTACTCCCCTCCTGCTCTATCTACCCAGACCCTAGGTCGGCCCTGTGGCCCTGTCATTGACCCGTGGTCCCGGCCATTCACATGGGACCCCAGCCTGGGACCTGGCCATTCACATAGTGACCCCAGCCTGGGACCCGGCCATTCACGTGGGACCCCAGCCTGGGTCCCGGCCATTCACGTGGGACCCCAGCCTGGGACCCGGCCATTCACAGGGGCCCTAGCCTGGAACCCGACCATTCACATGGTGACCGCAGCCCGGGACCCGGCCATTCATGTGGGGCCCCAGCCACCAGCTCCTAGCCATTTGCATGGGACCCCAGCCTGACCCCAGCCCCCGGTTCCTGGCCATGCCTTGGCTCCCTCTGACCCCGCCGCCCCTCTGGCAGTTCCGCTCACTCTCCATGGTGTCTGAGTGCCTGTTCTCGCTCATCAATGGGGACGACATGTTTGTGACGTTCGCCGCCATGCAGGCGCAGCAGGGCCGCAGCAGCCTGGTGTGGCTCTTCTCCCAGCTCTACCTTTACTCCTTCATCAGCCTCTTCATCTACATGGTGCTCAGCCTCTTCATCGCGCTCATCACCGGCGCCTACGACACCATCAAGGTCAGCCGCATGCACCCAGCCCTGAGCTCGGGCTCTGGGTGCCCTGGAGTCTGCCATGAGGGGGTCTTGGGGACACCGCAGGGTGAACAGAGAAGACCCAGGAGAGAATATGGGAGACTCTATGAAACCAAAAAGAGGGTGGTTCAGAACTGGGGGGCGCAGGGGGATGTCAAGGTGGGCTTGGGCCAGGAGGGGGCCTGAGTCAGTCTTTGCCAACAGGGCAACCGAGTCATAGAGTTTATTTATTTATTTGTTTATTTGAGACGGAGTCTTGCTCTGTCACCCAGGGTGGAGTGCAGTGGTGCGATCTTGACTCACTGCAACCTCCACCTCCCGGGTTCAAGCAATTCTGTCTCAGCCTCCTGAGTAGCTGGGACTACAGGCACACGCCACCACGTCCAGCTAATTTTTGTATTTTTAGTAGAGA | GGCTCAGGGCTTGCTCTCTGCCAGCGGTACTACCACCGAGGCCACGTGGACCCGGCCAACGACACATTTGACATTGATCCGATGGTGGTTACTGGTGAGTGGGCAGGACGAGGCTTCACTGTTGGGAGCCTGAGCTGCTGGGATTAAAATCAACAGCTGTGGCTGGGCACGGTGGCTCACGCCTATAATACCAGCACTTTGGGAGGCTGAGGAGGAAGGATTGCTTGAGGCCAGAAGTTTGAGACCAGCCTGGGCCACGTAGGAAGACCTTGTCTCTACGCACAAACAAATTAGCTGGGCGTGGTGGCGTGCCCCTGTGGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGGATCGCTTGAGTCCGGGAGGTTGAGGCTGCAGTAAGCTATGACCACGCTGCTGCACTCCACCCTGGGTGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAACAAGTATGCTTAGTGTGAGTGTGACTCTTGCCACGTAGAAAGCACCAGATGTTATATTTTAATATGGCTCATTCAGTAAAACATCCGCAGGCCCAGAGAGTGCCAGGCCTGTAGGAATGACCCAACCCTGGGGAAGCACAGGGAAGAAGGCCACTGGGGACTCTGGGGAGACCAGCCTGGCCTCCCCGGCCCCCTGAGGCCCTTCCCTGACTCCCTGTCCTTAGACTGCATCCAGGTGGATCCCCCCGAGCGGCCCCCTCCGCCCCCCAGCGACGATCTCACCCTCTTGGAAAGCAGCTCCAGTTACAAGAACCTCACGCTCAAATTCCACAAGTACTGCCTGCTCACTCGAGGGGGGCCCAGGGTGGGGGAGGCAGCACACTAGGCACTCTCACCCCAGCAACTACTTCCCTAAGGTGGGGACAGGGCCCCCCCGCCCGCGCTGGTGCCTGCTGGGTGAGCACTTCCCCTGCCAGCTGCAGAGTCAGCACGTGGCAGGGGACGCTGGCACTTGGGGCCGGAAGGGACCCGAAGACGCCCCTGACCCTCACCCGAGCCTCCTGCCTAGGCTGGTCAATGTCACCATCCACTTCCGGCTGAAGACCATTAACCTCCAGAGCCTCATCAATAATGAGATCCCGGACTGCTATACCTTCAGCGTCCTGGTGAGGCCCCCCGGGAACCCACAGGGCTCCTGAGTTCCAGGGCAGGGACCTGGTCAGGGAGTGTCTTGGGAGCACTGGCCAAGGGCAAGCGTGCGGGTGATGAGGGAGGGAGCCCGGGGTCTGTCAGGCCACCTGTCATGTGGACCTTGGGGCTTGGGGCTGCCAAGGTTTACTCTGCCCCCAACTGGCCCCCACAGATCACGTTTGACAACAAAGCACACAGTGGGCGGATCCCCATCAGCCTGGAGACCCAGGCCCACATCCAGGAGTGTAAGCACCCCAGTGTCTTCCAGCACGGTGAGCCCCTGAGCCCCAGACCAGCACTGACCAGGGGCCCTGGCCTGTCCTGGGATTCCCCAAGCCCCAGATCAGCGCTGCCTGGGGGCCGTGACCTCCCCAGGAATCCGCTGAGCCTCAGATCAGCACAGACCAGGGACCCCGTCCTGTGCTGAGATCCCCCAAGCCCCAGACCAGCACTGACCGGGGTTCTTGACTCACCCCAAGCAAGCCCTGAGCCCACTGACCAACCAAAACCAGCCGTGCAGCCCCCTAGGTCTCCAGCCTGGCCTGGCACCAATGCTAGCCTCCCAAGGCTCCATGCCATCCTTGGCCCTACCCGCTCTGCCCTCCCCGCAGGAGACAACAGCTTCCGGCTCCTGTTTGACGTGGTGGTCATCCTCACCTGCTCCCTGTCCTTCCTCCTCTGCGCCCGCTCACTCCTTCGAGGCTTCCTGCTGCAGAACGTGAGGCTTCTGCGTCATGTGTGCTGGTGTCCTCCCCGCCTGGCCCTGGGGCGATAAAAGCCAGGGCTTTGAGGGTCCTGTGCCTGGTCAGGCCCTCACCCCGCCTGCCTTCTGCAGGAGTTTGTGGGGTTCATGTGGCGGCAGCGGGGACGGGTCATCAGCCTGTGGGAGCGGCTGGAAATTTGTCAATGGCTGGTACATCCTGCTCGTCACCAGCGATGTGCTCACCATCTCGGGCACCATCATGAAGATCGGCATCGAGGCCAAGGTGCGTCCTGCCAACACCCTGGGCCCCAGGTCCCATCCCTGCTGTCAGTGCCTATCCGGGGCCATATCCTCCCCCAGGCCCCCCAAAGGAAGGGCTGGGCCAGATAGGTTGACGCAGCTCCCACCCGCAGAACTTGGCGAGCTACGACGTCTGCAGCATCCTCCTGGGCACCTCGACGCTGCTGGTGTGGGTGGGCGTGATCCGCTACCTGACCTTCTTCCACAACTACAATGTGAGTTTTGCACATGCAGCTGGGCCTTCCACATGGTTACTCCACACCCTCCAAATAAATCCCTACACACGCAGCCCTCACCAGCCCCGGCCAATGGCCCCTTGCAAGCCTCCTCCTCCTACCTGCCCACACCAGATATATCTGTCACTGCACCTGCGCGGGGCCCCGGGAGCCTGCTCCTTTGTGCCCACCCAGCTGAGTCTAGCCGTGCGTTGCCCTCGGACCCCCTCAGACGTGGCCACGCCCCCTCTAGGCACCCACTGGCTCCCATGACCACACCGGCTGTGCCCTCGGCAAGGCCCCGCCCCTCCCACCCCCATCTGGGTGCCCACAGCTGACCTGAGTTGTGGCCACACCCTCAACGAGGCTCCCTCTGCCCCAACCCAGATCCTCATCGCCACACTGCGGGTGGCCCTGCCCAGCGTCATGCGCTTCTGCTGCTGCGTGGCTGTCATCTACCTGGGCTACTGCTTCTGTGGCTGGATCGTGCTGGGGCCCTATCATGTGAAGGTACATCTAACCCCTGATGTCCCTGACATTGACCCTGTGACCTTGTCATTGACACTGTGACCCCCAGATGACCCCTTGGTGACTGCTGGGAGTCTGTCCACTGTCCCCTGTGGTCCTTGGTGACCCTGACACTGACCCTGTGCCATTATTGTTGTCACAGTTGTTGATGACCCTATTTCGACCTGAATTACTCCCCTCCTGCTCTATCTACCCAGACCCTAGGTCGGCCCTGTGGCCCTGTCATTGACCCGTGGTCCCGGCCATTCACATGGGACCCCAGCCTGGGACCTGGCCATTCACATAGTGACCCCAGCCTGGGACCCGGCCATTCACGTGGGACCCCAGCCTGGGTCCCGGCCATTCACGTGGGACCCCAGCCTGGGACCCGGCCATTCACAGGGGCCCTAGCCTGGAACCCGACCATTCACATGGTGACCGCAGCCCGGGACCCGGCCATTCATGTGGGGCCCCAGCCACCAGCTCCTAGCCATTTGCATGGGACCCCAGCCTGACCCCAGCCCCCGGTTCCTGGCCATGCCTTGGCTCCCTCTGACCCCGCCGCCCCTCTGGCAGTTCCGCTCACTCTCCATGGTGTCTGAGTGCCTGTTCTCGCTCATCAATGGGGACGACATGTTTGTGACGTTCGCCGCCATGCAGGCGCAGCAGGGCCGCAGCAGCCTGGTGTGGCTCTTCTCCCAGCTCTACCTTTACTCCTTCATCAGCCTCTTCATCTACATGGTGCTCAGCCTCTTCATCGCGCTCATCACCGGCGCCTACGACACCATCAAGGTCAGCCGCATGCACCCAGCCCTGAGCTCGGGCTCTGGGTGCCCTGGAGTCTGCCATGAGGGGGTCTTGGGGACACCGCAGGGTGAACAGAGAAGACCCAGGAGAGAATATGGGAGACTCTATGAAACCAAAAAGAGGGTGGTTCAGAACTGGGGGGCGCAGGGGGATGTCAAGGTGGGCTTGGGCCAGGAGGGGGCCTGAGTCAGTCTTTGCCAACAGGGCAACCGAGTCATAGAGTTTATTTATTTATTTGTTTATTTGAGACGGAGTCTTGCTCTGTCACCCAGGGTGGAGTGCAGTGGTGCGATCTTGACTCACTGCAACCTCCACCTCCCGGGTTCAAGCAATTCTGTCTCAGCCTCCTGAGTAGCTGGGACTACAGGCACACGCCACCACGTCCAGCTAATTTTTGTATTTTTAGTAGAG | pathogenic | 295,059 |
Gene MCOLN1 (mucolipin TRP cation channel 1) variant at chromosome position 7529175 on chromosome 19: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Lisch_epithelial_corneal_dystrophy', 'Mucolipidosis_type_IV'] | CTGGGCGTGGTGGCGTGCCCCTGTGGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGGATCGCTTGAGTCCGGGAGGTTGAGGCTGCAGTAAGCTATGACCACGCTGCTGCACTCCACCCTGGGTGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAACAAGTATGCTTAGTGTGAGTGTGACTCTTGCCACGTAGAAAGCACCAGATGTTATATTTTAATATGGCTCATTCAGTAAAACATCCGCAGGCCCAGAGAGTGCCAGGCCTGTAGGAATGACCCAACCCTGGGGAAGCACAGGGAAGAAGGCCACTGGGGACTCTGGGGAGACCAGCCTGGCCTCCCCGGCCCCCTGAGGCCCTTCCCTGACTCCCTGTCCTTAGACTGCATCCAGGTGGATCCCCCCGAGCGGCCCCCTCCGCCCCCCAGCGACGATCTCACCCTCTTGGAAAGCAGCTCCAGTTACAAGAACCTCACGCTCAAATTCCACAAGTACTGCCTGCTCACTCGAGGGGGGCCCAGGGTGGGGGAGGCAGCACACTAGGCACTCTCACCCCAGCAACTACTTCCCTAAGGTGGGGACAGGGCCCCCCCGCCCGCGCTGGTGCCTGCTGGGTGAGCACTTCCCCTGCCAGCTGCAGAGTCAGCACGTGGCAGGGGACGCTGGCACTTGGGGCCGGAAGGGACCCGAAGACGCCCCTGACCCTCACCCGAGCCTCCTGCCTAGGCTGGTCAATGTCACCATCCACTTCCGGCTGAAGACCATTAACCTCCAGAGCCTCATCAATAATGAGATCCCGGACTGCTATACCTTCAGCGTCCTGGTGAGGCCCCCCGGGAACCCACAGGGCTCCTGAGTTCCAGGGCAGGGACCTGGTCAGGGAGTGTCTTGGGAGCACTGGCCAAGGGCAAGCGTGCGGGTGATGAGGGAGGGAGCCCGGGGTCTGTCAGGCCACCTGTCATGTGGACCTTGGGGCTTGGGGCTGCCAAGGTTTACTCTGCCCCCAACTGGCCCCCACAGATCACGTTTGACAACAAAGCACACAGTGGGCGGATCCCCATCAGCCTGGAGACCCAGGCCCACATCCAGGAGTGTAAGCACCCCAGTGTCTTCCAGCACGGTGAGCCCCTGAGCCCCAGACCAGCACTGACCAGGGGCCCTGGCCTGTCCTGGGATTCCCCAAGCCCCAGATCAGCGCTGCCTGGGGGCCGTGACCTCCCCAGGAATCCGCTGAGCCTCAGATCAGCACAGACCAGGGACCCCGTCCTGTGCTGAGATCCCCCAAGCCCCAGACCAGCACTGACCGGGGTTCTTGACTCACCCCAAGCAAGCCCTGAGCCCACTGACCAACCAAAACCAGCCGTGCAGCCCCCTAGGTCTCCAGCCTGGCCTGGCACCAATGCTAGCCTCCCAAGGCTCCATGCCATCCTTGGCCCTACCCGCTCTGCCCTCCCCGCAGGAGACAACAGCTTCCGGCTCCTGTTTGACGTGGTGGTCATCCTCACCTGCTCCCTGTCCTTCCTCCTCTGCGCCCGCTCACTCCTTCGAGGCTTCCTGCTGCAGAACGTGAGGCTTCTGCGTCATGTGTGCTGGTGTCCTCCCCGCCTGGCCCTGGGGCGATAAAAGCCAGGGCTTTGAGGGTCCTGTGCCTGGTCAGGCCCTCACCCCGCCTGCCTTCTGCAGGAGTTTGTGGGGTTCATGTGGCGGCAGCGGGGACGGGTCATCAGCCTGTGGGAGCGGCTGGAATTTGTCAATGGCTGGTACATCCTGCTCGTCACCAGCGATGTGCTCACCATCTCGGGCACCATCATGAAGATCGGCATCGAGGCCAAGGTGCGTCCTGCCAACACCCTGGGCCCCAGGTCCCATCCCTGCTGTCAGTGCCTATCCGGGGCCATATCCTCCCCCAGGCCCCCCAAAGGAAGGGCTGGGCCAGATAGGTTGACGCAGCTCCCACCCGCAGAACTTGGCGAGCTACGACGTCTGCAGCATCCTCCTGGGCACCTCGACGCTGCTGGTGTGGGTGGGCGTGATCCGCTACCTGACCTTCTTCCACAACTACAATGTGAGTTTTGCACATGCAGCTGGGCCTTCCACATGGTTACTCCACACCCTCCAAATAAATCCCTACACACGCAGCCCTCACCAGCCCCGGCCAATGGCCCCTTGCAAGCCTCCTCCTCCTACCTGCCCACACCAGATATATCTGTCACTGCACCTGCGCGGGGCCCCGGGAGCCTGCTCCTTTGTGCCCACCCAGCTGAGTCTAGCCGTGCGTTGCCCTCGGACCCCCTCAGACGTGGCCACGCCCCCTCTAGGCACCCACTGGCTCCCATGACCACACCGGCTGTGCCCTCGGCAAGGCCCCGCCCCTCCCACCCCCATCTGGGTGCCCACAGCTGACCTGAGTTGTGGCCACACCCTCAACGAGGCTCCCTCTGCCCCAACCCAGATCCTCATCGCCACACTGCGGGTGGCCCTGCCCAGCGTCATGCGCTTCTGCTGCTGCGTGGCTGTCATCTACCTGGGCTACTGCTTCTGTGGCTGGATCGTGCTGGGGCCCTATCATGTGAAGGTACATCTAACCCCTGATGTCCCTGACATTGACCCTGTGACCTTGTCATTGACACTGTGACCCCCAGATGACCCCTTGGTGACTGCTGGGAGTCTGTCCACTGTCCCCTGTGGTCCTTGGTGACCCTGACACTGACCCTGTGCCATTATTGTTGTCACAGTTGTTGATGACCCTATTTCGACCTGAATTACTCCCCTCCTGCTCTATCTACCCAGACCCTAGGTCGGCCCTGTGGCCCTGTCATTGACCCGTGGTCCCGGCCATTCACATGGGACCCCAGCCTGGGACCTGGCCATTCACATAGTGACCCCAGCCTGGGACCCGGCCATTCACGTGGGACCCCAGCCTGGGTCCCGGCCATTCACGTGGGACCCCAGCCTGGGACCCGGCCATTCACAGGGGCCCTAGCCTGGAACCCGACCATTCACATGGTGACCGCAGCCCGGGACCCGGCCATTCATGTGGGGCCCCAGCCACCAGCTCCTAGCCATTTGCATGGGACCCCAGCCTGACCCCAGCCCCCGGTTCCTGGCCATGCCTTGGCTCCCTCTGACCCCGCCGCCCCTCTGGCAGTTCCGCTCACTCTCCATGGTGTCTGAGTGCCTGTTCTCGCTCATCAATGGGGACGACATGTTTGTGACGTTCGCCGCCATGCAGGCGCAGCAGGGCCGCAGCAGCCTGGTGTGGCTCTTCTCCCAGCTCTACCTTTACTCCTTCATCAGCCTCTTCATCTACATGGTGCTCAGCCTCTTCATCGCGCTCATCACCGGCGCCTACGACACCATCAAGGTCAGCCGCATGCACCCAGCCCTGAGCTCGGGCTCTGGGTGCCCTGGAGTCTGCCATGAGGGGGTCTTGGGGACACCGCAGGGTGAACAGAGAAGACCCAGGAGAGAATATGGGAGACTCTATGAAACCAAAAAGAGGGTGGTTCAGAACTGGGGGGCGCAGGGGGATGTCAAGGTGGGCTTGGGCCAGGAGGGGGCCTGAGTCAGTCTTTGCCAACAGGGCAACCGAGTCATAGAGTTTATTTATTTATTTGTTTATTTGAGACGGAGTCTTGCTCTGTCACCCAGGGTGGAGTGCAGTGGTGCGATCTTGACTCACTGCAACCTCCACCTCCCGGGTTCAAGCAATTCTGTCTCAGCCTCCTGAGTAGCTGGGACTACAGGCACACGCCACCACGTCCAGCTAATTTTTGTATTTTTAGTAGAGATGGCATTTCACCGCATTGGTCAGGCTGGTCTCAAACTCCTGGCCTCAGGAGATCTACTGCCTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACCACGCCCGGCCTATTTTATTTTATTATTAAAGTATTGTTCTTTATTTTATTAGAGACAAGGGTCTCACTGTGTTACCCAGGCTGGTTTCAAACTCCTGAGGTCAAGTGATCCTCCCACTTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCACACCCAGCCTATTATTATTATTTTTTTTTTGAAA | CTGGGCGTGGTGGCGTGCCCCTGTGGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGGATCGCTTGAGTCCGGGAGGTTGAGGCTGCAGTAAGCTATGACCACGCTGCTGCACTCCACCCTGGGTGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAACAAGTATGCTTAGTGTGAGTGTGACTCTTGCCACGTAGAAAGCACCAGATGTTATATTTTAATATGGCTCATTCAGTAAAACATCCGCAGGCCCAGAGAGTGCCAGGCCTGTAGGAATGACCCAACCCTGGGGAAGCACAGGGAAGAAGGCCACTGGGGACTCTGGGGAGACCAGCCTGGCCTCCCCGGCCCCCTGAGGCCCTTCCCTGACTCCCTGTCCTTAGACTGCATCCAGGTGGATCCCCCCGAGCGGCCCCCTCCGCCCCCCAGCGACGATCTCACCCTCTTGGAAAGCAGCTCCAGTTACAAGAACCTCACGCTCAAATTCCACAAGTACTGCCTGCTCACTCGAGGGGGGCCCAGGGTGGGGGAGGCAGCACACTAGGCACTCTCACCCCAGCAACTACTTCCCTAAGGTGGGGACAGGGCCCCCCCGCCCGCGCTGGTGCCTGCTGGGTGAGCACTTCCCCTGCCAGCTGCAGAGTCAGCACGTGGCAGGGGACGCTGGCACTTGGGGCCGGAAGGGACCCGAAGACGCCCCTGACCCTCACCCGAGCCTCCTGCCTAGGCTGGTCAATGTCACCATCCACTTCCGGCTGAAGACCATTAACCTCCAGAGCCTCATCAATAATGAGATCCCGGACTGCTATACCTTCAGCGTCCTGGTGAGGCCCCCCGGGAACCCACAGGGCTCCTGAGTTCCAGGGCAGGGACCTGGTCAGGGAGTGTCTTGGGAGCACTGGCCAAGGGCAAGCGTGCGGGTGATGAGGGAGGGAGCCCGGGGTCTGTCAGGCCACCTGTCATGTGGACCTTGGGGCTTGGGGCTGCCAAGGTTTACTCTGCCCCCAACTGGCCCCCACAGATCACGTTTGACAACAAAGCACACAGTGGGCGGATCCCCATCAGCCTGGAGACCCAGGCCCACATCCAGGAGTGTAAGCACCCCAGTGTCTTCCAGCACGGTGAGCCCCTGAGCCCCAGACCAGCACTGACCAGGGGCCCTGGCCTGTCCTGGGATTCCCCAAGCCCCAGATCAGCGCTGCCTGGGGGCCGTGACCTCCCCAGGAATCCGCTGAGCCTCAGATCAGCACAGACCAGGGACCCCGTCCTGTGCTGAGATCCCCCAAGCCCCAGACCAGCACTGACCGGGGTTCTTGACTCACCCCAAGCAAGCCCTGAGCCCACTGACCAACCAAAACCAGCCGTGCAGCCCCCTAGGTCTCCAGCCTGGCCTGGCACCAATGCTAGCCTCCCAAGGCTCCATGCCATCCTTGGCCCTACCCGCTCTGCCCTCCCCGCAGGAGACAACAGCTTCCGGCTCCTGTTTGACGTGGTGGTCATCCTCACCTGCTCCCTGTCCTTCCTCCTCTGCGCCCGCTCACTCCTTCGAGGCTTCCTGCTGCAGAACGTGAGGCTTCTGCGTCATGTGTGCTGGTGTCCTCCCCGCCTGGCCCTGGGGCGATAAAAGCCAGGGCTTTGAGGGTCCTGTGCCTGGTCAGGCCCTCACCCCGCCTGCCTTCTGCAGGAGTTTGTGGGGTTCATGTGGCGGCAGCGGGGACGGGTCATCAGCCTGTGGGAGCGGCTGGAATTTGTCAATGGCTGGTACATCCTGCTCGTCACCAGCGATGTGCTCACCATCTCGGGCACCATCATGAAGATCGGCATCGAGGCCAAGGTGCGTCCTGCCAACACCCTGGGCCCCAGGTCCCATCCCTGCTGTCAGTGCCTATCCGGGGCCATATCCTCCCCCAGGCCCCCCAAAGGAAGGGCTGGGCCAGATAGGTTGACGCAGCTCCCACCCGCAGAACTTGGCGAGCTACGACGTCTGCAGCATCCTCCTGGGCACCTCGACGCTGCTGGTGTGGGTGGGCGTGATCCGCTTACCTGACCTTCTTCCACAACTACAATGTGAGTTTTGCACATGCAGCTGGGCCTTCCACATGGTTACTCCACACCCTCCAAATAAATCCCTACACACGCAGCCCTCACCAGCCCCGGCCAATGGCCCCTTGCAAGCCTCCTCCTCCTACCTGCCCACACCAGATATATCTGTCACTGCACCTGCGCGGGGCCCCGGGAGCCTGCTCCTTTGTGCCCACCCAGCTGAGTCTAGCCGTGCGTTGCCCTCGGACCCCCTCAGACGTGGCCACGCCCCCTCTAGGCACCCACTGGCTCCCATGACCACACCGGCTGTGCCCTCGGCAAGGCCCCGCCCCTCCCACCCCCATCTGGGTGCCCACAGCTGACCTGAGTTGTGGCCACACCCTCAACGAGGCTCCCTCTGCCCCAACCCAGATCCTCATCGCCACACTGCGGGTGGCCCTGCCCAGCGTCATGCGCTTCTGCTGCTGCGTGGCTGTCATCTACCTGGGCTACTGCTTCTGTGGCTGGATCGTGCTGGGGCCCTATCATGTGAAGGTACATCTAACCCCTGATGTCCCTGACATTGACCCTGTGACCTTGTCATTGACACTGTGACCCCCAGATGACCCCTTGGTGACTGCTGGGAGTCTGTCCACTGTCCCCTGTGGTCCTTGGTGACCCTGACACTGACCCTGTGCCATTATTGTTGTCACAGTTGTTGATGACCCTATTTCGACCTGAATTACTCCCCTCCTGCTCTATCTACCCAGACCCTAGGTCGGCCCTGTGGCCCTGTCATTGACCCGTGGTCCCGGCCATTCACATGGGACCCCAGCCTGGGACCTGGCCATTCACATAGTGACCCCAGCCTGGGACCCGGCCATTCACGTGGGACCCCAGCCTGGGTCCCGGCCATTCACGTGGGACCCCAGCCTGGGACCCGGCCATTCACAGGGGCCCTAGCCTGGAACCCGACCATTCACATGGTGACCGCAGCCCGGGACCCGGCCATTCATGTGGGGCCCCAGCCACCAGCTCCTAGCCATTTGCATGGGACCCCAGCCTGACCCCAGCCCCCGGTTCCTGGCCATGCCTTGGCTCCCTCTGACCCCGCCGCCCCTCTGGCAGTTCCGCTCACTCTCCATGGTGTCTGAGTGCCTGTTCTCGCTCATCAATGGGGACGACATGTTTGTGACGTTCGCCGCCATGCAGGCGCAGCAGGGCCGCAGCAGCCTGGTGTGGCTCTTCTCCCAGCTCTACCTTTACTCCTTCATCAGCCTCTTCATCTACATGGTGCTCAGCCTCTTCATCGCGCTCATCACCGGCGCCTACGACACCATCAAGGTCAGCCGCATGCACCCAGCCCTGAGCTCGGGCTCTGGGTGCCCTGGAGTCTGCCATGAGGGGGTCTTGGGGACACCGCAGGGTGAACAGAGAAGACCCAGGAGAGAATATGGGAGACTCTATGAAACCAAAAAGAGGGTGGTTCAGAACTGGGGGGCGCAGGGGGATGTCAAGGTGGGCTTGGGCCAGGAGGGGGCCTGAGTCAGTCTTTGCCAACAGGGCAACCGAGTCATAGAGTTTATTTATTTATTTGTTTATTTGAGACGGAGTCTTGCTCTGTCACCCAGGGTGGAGTGCAGTGGTGCGATCTTGACTCACTGCAACCTCCACCTCCCGGGTTCAAGCAATTCTGTCTCAGCCTCCTGAGTAGCTGGGACTACAGGCACACGCCACCACGTCCAGCTAATTTTTGTATTTTTAGTAGAGATGGCATTTCACCGCATTGGTCAGGCTGGTCTCAAACTCCTGGCCTCAGGAGATCTACTGCCTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACCACGCCCGGCCTATTTTATTTTATTATTAAAGTATTGTTCTTTATTTTATTAGAGACAAGGGTCTCACTGTGTTACCCAGGCTGGTTTCAAACTCCTGAGGTCAAGTGATCCTCCCACTTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCACACCCAGCCTATTATTATTATTTTTTTTTTGAA | pathogenic | 295,066 |
Evaluate the clinical significance of the mutation at chromosome 19, position 7529183 in gene MCOLN1 (mucolipin TRP cation channel 1): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Mucolipidosis_type_IV'] | GGTGGCGTGCCCCTGTGGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGGATCGCTTGAGTCCGGGAGGTTGAGGCTGCAGTAAGCTATGACCACGCTGCTGCACTCCACCCTGGGTGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAACAAGTATGCTTAGTGTGAGTGTGACTCTTGCCACGTAGAAAGCACCAGATGTTATATTTTAATATGGCTCATTCAGTAAAACATCCGCAGGCCCAGAGAGTGCCAGGCCTGTAGGAATGACCCAACCCTGGGGAAGCACAGGGAAGAAGGCCACTGGGGACTCTGGGGAGACCAGCCTGGCCTCCCCGGCCCCCTGAGGCCCTTCCCTGACTCCCTGTCCTTAGACTGCATCCAGGTGGATCCCCCCGAGCGGCCCCCTCCGCCCCCCAGCGACGATCTCACCCTCTTGGAAAGCAGCTCCAGTTACAAGAACCTCACGCTCAAATTCCACAAGTACTGCCTGCTCACTCGAGGGGGGCCCAGGGTGGGGGAGGCAGCACACTAGGCACTCTCACCCCAGCAACTACTTCCCTAAGGTGGGGACAGGGCCCCCCCGCCCGCGCTGGTGCCTGCTGGGTGAGCACTTCCCCTGCCAGCTGCAGAGTCAGCACGTGGCAGGGGACGCTGGCACTTGGGGCCGGAAGGGACCCGAAGACGCCCCTGACCCTCACCCGAGCCTCCTGCCTAGGCTGGTCAATGTCACCATCCACTTCCGGCTGAAGACCATTAACCTCCAGAGCCTCATCAATAATGAGATCCCGGACTGCTATACCTTCAGCGTCCTGGTGAGGCCCCCCGGGAACCCACAGGGCTCCTGAGTTCCAGGGCAGGGACCTGGTCAGGGAGTGTCTTGGGAGCACTGGCCAAGGGCAAGCGTGCGGGTGATGAGGGAGGGAGCCCGGGGTCTGTCAGGCCACCTGTCATGTGGACCTTGGGGCTTGGGGCTGCCAAGGTTTACTCTGCCCCCAACTGGCCCCCACAGATCACGTTTGACAACAAAGCACACAGTGGGCGGATCCCCATCAGCCTGGAGACCCAGGCCCACATCCAGGAGTGTAAGCACCCCAGTGTCTTCCAGCACGGTGAGCCCCTGAGCCCCAGACCAGCACTGACCAGGGGCCCTGGCCTGTCCTGGGATTCCCCAAGCCCCAGATCAGCGCTGCCTGGGGGCCGTGACCTCCCCAGGAATCCGCTGAGCCTCAGATCAGCACAGACCAGGGACCCCGTCCTGTGCTGAGATCCCCCAAGCCCCAGACCAGCACTGACCGGGGTTCTTGACTCACCCCAAGCAAGCCCTGAGCCCACTGACCAACCAAAACCAGCCGTGCAGCCCCCTAGGTCTCCAGCCTGGCCTGGCACCAATGCTAGCCTCCCAAGGCTCCATGCCATCCTTGGCCCTACCCGCTCTGCCCTCCCCGCAGGAGACAACAGCTTCCGGCTCCTGTTTGACGTGGTGGTCATCCTCACCTGCTCCCTGTCCTTCCTCCTCTGCGCCCGCTCACTCCTTCGAGGCTTCCTGCTGCAGAACGTGAGGCTTCTGCGTCATGTGTGCTGGTGTCCTCCCCGCCTGGCCCTGGGGCGATAAAAGCCAGGGCTTTGAGGGTCCTGTGCCTGGTCAGGCCCTCACCCCGCCTGCCTTCTGCAGGAGTTTGTGGGGTTCATGTGGCGGCAGCGGGGACGGGTCATCAGCCTGTGGGAGCGGCTGGAATTTGTCAATGGCTGGTACATCCTGCTCGTCACCAGCGATGTGCTCACCATCTCGGGCACCATCATGAAGATCGGCATCGAGGCCAAGGTGCGTCCTGCCAACACCCTGGGCCCCAGGTCCCATCCCTGCTGTCAGTGCCTATCCGGGGCCATATCCTCCCCCAGGCCCCCCAAAGGAAGGGCTGGGCCAGATAGGTTGACGCAGCTCCCACCCGCAGAACTTGGCGAGCTACGACGTCTGCAGCATCCTCCTGGGCACCTCGACGCTGCTGGTGTGGGTGGGCGTGATCCGCTACCTGACCTTCTTCCACAACTACAATGTGAGTTTTGCACATGCAGCTGGGCCTTCCACATGGTTACTCCACACCCTCCAAATAAATCCCTACACACGCAGCCCTCACCAGCCCCGGCCAATGGCCCCTTGCAAGCCTCCTCCTCCTACCTGCCCACACCAGATATATCTGTCACTGCACCTGCGCGGGGCCCCGGGAGCCTGCTCCTTTGTGCCCACCCAGCTGAGTCTAGCCGTGCGTTGCCCTCGGACCCCCTCAGACGTGGCCACGCCCCCTCTAGGCACCCACTGGCTCCCATGACCACACCGGCTGTGCCCTCGGCAAGGCCCCGCCCCTCCCACCCCCATCTGGGTGCCCACAGCTGACCTGAGTTGTGGCCACACCCTCAACGAGGCTCCCTCTGCCCCAACCCAGATCCTCATCGCCACACTGCGGGTGGCCCTGCCCAGCGTCATGCGCTTCTGCTGCTGCGTGGCTGTCATCTACCTGGGCTACTGCTTCTGTGGCTGGATCGTGCTGGGGCCCTATCATGTGAAGGTACATCTAACCCCTGATGTCCCTGACATTGACCCTGTGACCTTGTCATTGACACTGTGACCCCCAGATGACCCCTTGGTGACTGCTGGGAGTCTGTCCACTGTCCCCTGTGGTCCTTGGTGACCCTGACACTGACCCTGTGCCATTATTGTTGTCACAGTTGTTGATGACCCTATTTCGACCTGAATTACTCCCCTCCTGCTCTATCTACCCAGACCCTAGGTCGGCCCTGTGGCCCTGTCATTGACCCGTGGTCCCGGCCATTCACATGGGACCCCAGCCTGGGACCTGGCCATTCACATAGTGACCCCAGCCTGGGACCCGGCCATTCACGTGGGACCCCAGCCTGGGTCCCGGCCATTCACGTGGGACCCCAGCCTGGGACCCGGCCATTCACAGGGGCCCTAGCCTGGAACCCGACCATTCACATGGTGACCGCAGCCCGGGACCCGGCCATTCATGTGGGGCCCCAGCCACCAGCTCCTAGCCATTTGCATGGGACCCCAGCCTGACCCCAGCCCCCGGTTCCTGGCCATGCCTTGGCTCCCTCTGACCCCGCCGCCCCTCTGGCAGTTCCGCTCACTCTCCATGGTGTCTGAGTGCCTGTTCTCGCTCATCAATGGGGACGACATGTTTGTGACGTTCGCCGCCATGCAGGCGCAGCAGGGCCGCAGCAGCCTGGTGTGGCTCTTCTCCCAGCTCTACCTTTACTCCTTCATCAGCCTCTTCATCTACATGGTGCTCAGCCTCTTCATCGCGCTCATCACCGGCGCCTACGACACCATCAAGGTCAGCCGCATGCACCCAGCCCTGAGCTCGGGCTCTGGGTGCCCTGGAGTCTGCCATGAGGGGGTCTTGGGGACACCGCAGGGTGAACAGAGAAGACCCAGGAGAGAATATGGGAGACTCTATGAAACCAAAAAGAGGGTGGTTCAGAACTGGGGGGCGCAGGGGGATGTCAAGGTGGGCTTGGGCCAGGAGGGGGCCTGAGTCAGTCTTTGCCAACAGGGCAACCGAGTCATAGAGTTTATTTATTTATTTGTTTATTTGAGACGGAGTCTTGCTCTGTCACCCAGGGTGGAGTGCAGTGGTGCGATCTTGACTCACTGCAACCTCCACCTCCCGGGTTCAAGCAATTCTGTCTCAGCCTCCTGAGTAGCTGGGACTACAGGCACACGCCACCACGTCCAGCTAATTTTTGTATTTTTAGTAGAGATGGCATTTCACCGCATTGGTCAGGCTGGTCTCAAACTCCTGGCCTCAGGAGATCTACTGCCTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACCACGCCCGGCCTATTTTATTTTATTATTAAAGTATTGTTCTTTATTTTATTAGAGACAAGGGTCTCACTGTGTTACCCAGGCTGGTTTCAAACTCCTGAGGTCAAGTGATCCTCCCACTTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCACACCCAGCCTATTATTATTATTTTTTTTTTGAAATGGAATCT | GGTGGCGTGCCCCTGTGGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGGATCGCTTGAGTCCGGGAGGTTGAGGCTGCAGTAAGCTATGACCACGCTGCTGCACTCCACCCTGGGTGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAACAAGTATGCTTAGTGTGAGTGTGACTCTTGCCACGTAGAAAGCACCAGATGTTATATTTTAATATGGCTCATTCAGTAAAACATCCGCAGGCCCAGAGAGTGCCAGGCCTGTAGGAATGACCCAACCCTGGGGAAGCACAGGGAAGAAGGCCACTGGGGACTCTGGGGAGACCAGCCTGGCCTCCCCGGCCCCCTGAGGCCCTTCCCTGACTCCCTGTCCTTAGACTGCATCCAGGTGGATCCCCCCGAGCGGCCCCCTCCGCCCCCCAGCGACGATCTCACCCTCTTGGAAAGCAGCTCCAGTTACAAGAACCTCACGCTCAAATTCCACAAGTACTGCCTGCTCACTCGAGGGGGGCCCAGGGTGGGGGAGGCAGCACACTAGGCACTCTCACCCCAGCAACTACTTCCCTAAGGTGGGGACAGGGCCCCCCCGCCCGCGCTGGTGCCTGCTGGGTGAGCACTTCCCCTGCCAGCTGCAGAGTCAGCACGTGGCAGGGGACGCTGGCACTTGGGGCCGGAAGGGACCCGAAGACGCCCCTGACCCTCACCCGAGCCTCCTGCCTAGGCTGGTCAATGTCACCATCCACTTCCGGCTGAAGACCATTAACCTCCAGAGCCTCATCAATAATGAGATCCCGGACTGCTATACCTTCAGCGTCCTGGTGAGGCCCCCCGGGAACCCACAGGGCTCCTGAGTTCCAGGGCAGGGACCTGGTCAGGGAGTGTCTTGGGAGCACTGGCCAAGGGCAAGCGTGCGGGTGATGAGGGAGGGAGCCCGGGGTCTGTCAGGCCACCTGTCATGTGGACCTTGGGGCTTGGGGCTGCCAAGGTTTACTCTGCCCCCAACTGGCCCCCACAGATCACGTTTGACAACAAAGCACACAGTGGGCGGATCCCCATCAGCCTGGAGACCCAGGCCCACATCCAGGAGTGTAAGCACCCCAGTGTCTTCCAGCACGGTGAGCCCCTGAGCCCCAGACCAGCACTGACCAGGGGCCCTGGCCTGTCCTGGGATTCCCCAAGCCCCAGATCAGCGCTGCCTGGGGGCCGTGACCTCCCCAGGAATCCGCTGAGCCTCAGATCAGCACAGACCAGGGACCCCGTCCTGTGCTGAGATCCCCCAAGCCCCAGACCAGCACTGACCGGGGTTCTTGACTCACCCCAAGCAAGCCCTGAGCCCACTGACCAACCAAAACCAGCCGTGCAGCCCCCTAGGTCTCCAGCCTGGCCTGGCACCAATGCTAGCCTCCCAAGGCTCCATGCCATCCTTGGCCCTACCCGCTCTGCCCTCCCCGCAGGAGACAACAGCTTCCGGCTCCTGTTTGACGTGGTGGTCATCCTCACCTGCTCCCTGTCCTTCCTCCTCTGCGCCCGCTCACTCCTTCGAGGCTTCCTGCTGCAGAACGTGAGGCTTCTGCGTCATGTGTGCTGGTGTCCTCCCCGCCTGGCCCTGGGGCGATAAAAGCCAGGGCTTTGAGGGTCCTGTGCCTGGTCAGGCCCTCACCCCGCCTGCCTTCTGCAGGAGTTTGTGGGGTTCATGTGGCGGCAGCGGGGACGGGTCATCAGCCTGTGGGAGCGGCTGGAATTTGTCAATGGCTGGTACATCCTGCTCGTCACCAGCGATGTGCTCACCATCTCGGGCACCATCATGAAGATCGGCATCGAGGCCAAGGTGCGTCCTGCCAACACCCTGGGCCCCAGGTCCCATCCCTGCTGTCAGTGCCTATCCGGGGCCATATCCTCCCCCAGGCCCCCCAAAGGAAGGGCTGGGCCAGATAGGTTGACGCAGCTCCCACCCGCAGAACTTGGCGAGCTACGACGTCTGCAGCATCCTCCTGGGCACCTCGACGCTGCTGGTGTGGGTGGGCGTGATCCGCTACCTGACCTTCCACAACTACAATGTGAGTTTTGCACATGCAGCTGGGCCTTCCACATGGTTACTCCACACCCTCCAAATAAATCCCTACACACGCAGCCCTCACCAGCCCCGGCCAATGGCCCCTTGCAAGCCTCCTCCTCCTACCTGCCCACACCAGATATATCTGTCACTGCACCTGCGCGGGGCCCCGGGAGCCTGCTCCTTTGTGCCCACCCAGCTGAGTCTAGCCGTGCGTTGCCCTCGGACCCCCTCAGACGTGGCCACGCCCCCTCTAGGCACCCACTGGCTCCCATGACCACACCGGCTGTGCCCTCGGCAAGGCCCCGCCCCTCCCACCCCCATCTGGGTGCCCACAGCTGACCTGAGTTGTGGCCACACCCTCAACGAGGCTCCCTCTGCCCCAACCCAGATCCTCATCGCCACACTGCGGGTGGCCCTGCCCAGCGTCATGCGCTTCTGCTGCTGCGTGGCTGTCATCTACCTGGGCTACTGCTTCTGTGGCTGGATCGTGCTGGGGCCCTATCATGTGAAGGTACATCTAACCCCTGATGTCCCTGACATTGACCCTGTGACCTTGTCATTGACACTGTGACCCCCAGATGACCCCTTGGTGACTGCTGGGAGTCTGTCCACTGTCCCCTGTGGTCCTTGGTGACCCTGACACTGACCCTGTGCCATTATTGTTGTCACAGTTGTTGATGACCCTATTTCGACCTGAATTACTCCCCTCCTGCTCTATCTACCCAGACCCTAGGTCGGCCCTGTGGCCCTGTCATTGACCCGTGGTCCCGGCCATTCACATGGGACCCCAGCCTGGGACCTGGCCATTCACATAGTGACCCCAGCCTGGGACCCGGCCATTCACGTGGGACCCCAGCCTGGGTCCCGGCCATTCACGTGGGACCCCAGCCTGGGACCCGGCCATTCACAGGGGCCCTAGCCTGGAACCCGACCATTCACATGGTGACCGCAGCCCGGGACCCGGCCATTCATGTGGGGCCCCAGCCACCAGCTCCTAGCCATTTGCATGGGACCCCAGCCTGACCCCAGCCCCCGGTTCCTGGCCATGCCTTGGCTCCCTCTGACCCCGCCGCCCCTCTGGCAGTTCCGCTCACTCTCCATGGTGTCTGAGTGCCTGTTCTCGCTCATCAATGGGGACGACATGTTTGTGACGTTCGCCGCCATGCAGGCGCAGCAGGGCCGCAGCAGCCTGGTGTGGCTCTTCTCCCAGCTCTACCTTTACTCCTTCATCAGCCTCTTCATCTACATGGTGCTCAGCCTCTTCATCGCGCTCATCACCGGCGCCTACGACACCATCAAGGTCAGCCGCATGCACCCAGCCCTGAGCTCGGGCTCTGGGTGCCCTGGAGTCTGCCATGAGGGGGTCTTGGGGACACCGCAGGGTGAACAGAGAAGACCCAGGAGAGAATATGGGAGACTCTATGAAACCAAAAAGAGGGTGGTTCAGAACTGGGGGGCGCAGGGGGATGTCAAGGTGGGCTTGGGCCAGGAGGGGGCCTGAGTCAGTCTTTGCCAACAGGGCAACCGAGTCATAGAGTTTATTTATTTATTTGTTTATTTGAGACGGAGTCTTGCTCTGTCACCCAGGGTGGAGTGCAGTGGTGCGATCTTGACTCACTGCAACCTCCACCTCCCGGGTTCAAGCAATTCTGTCTCAGCCTCCTGAGTAGCTGGGACTACAGGCACACGCCACCACGTCCAGCTAATTTTTGTATTTTTAGTAGAGATGGCATTTCACCGCATTGGTCAGGCTGGTCTCAAACTCCTGGCCTCAGGAGATCTACTGCCTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACCACGCCCGGCCTATTTTATTTTATTATTAAAGTATTGTTCTTTATTTTATTAGAGACAAGGGTCTCACTGTGTTACCCAGGCTGGTTTCAAACTCCTGAGGTCAAGTGATCCTCCCACTTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCACACCCAGCCTATTATTATTATTTTTTTTTTGAAATGGAATCTNNN | pathogenic | 295,067 |
Classify the chromosome 19 variant at position 7530370 affecting gene MCOLN1 (mucolipin TRP cation channel 1) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Lisch_epithelial_corneal_dystrophy', 'Mucolipidosis_type_IV'] | CCCCAGATCAGCGCTGCCTGGGGGCCGTGACCTCCCCAGGAATCCGCTGAGCCTCAGATCAGCACAGACCAGGGACCCCGTCCTGTGCTGAGATCCCCCAAGCCCCAGACCAGCACTGACCGGGGTTCTTGACTCACCCCAAGCAAGCCCTGAGCCCACTGACCAACCAAAACCAGCCGTGCAGCCCCCTAGGTCTCCAGCCTGGCCTGGCACCAATGCTAGCCTCCCAAGGCTCCATGCCATCCTTGGCCCTACCCGCTCTGCCCTCCCCGCAGGAGACAACAGCTTCCGGCTCCTGTTTGACGTGGTGGTCATCCTCACCTGCTCCCTGTCCTTCCTCCTCTGCGCCCGCTCACTCCTTCGAGGCTTCCTGCTGCAGAACGTGAGGCTTCTGCGTCATGTGTGCTGGTGTCCTCCCCGCCTGGCCCTGGGGCGATAAAAGCCAGGGCTTTGAGGGTCCTGTGCCTGGTCAGGCCCTCACCCCGCCTGCCTTCTGCAGGAGTTTGTGGGGTTCATGTGGCGGCAGCGGGGACGGGTCATCAGCCTGTGGGAGCGGCTGGAATTTGTCAATGGCTGGTACATCCTGCTCGTCACCAGCGATGTGCTCACCATCTCGGGCACCATCATGAAGATCGGCATCGAGGCCAAGGTGCGTCCTGCCAACACCCTGGGCCCCAGGTCCCATCCCTGCTGTCAGTGCCTATCCGGGGCCATATCCTCCCCCAGGCCCCCCAAAGGAAGGGCTGGGCCAGATAGGTTGACGCAGCTCCCACCCGCAGAACTTGGCGAGCTACGACGTCTGCAGCATCCTCCTGGGCACCTCGACGCTGCTGGTGTGGGTGGGCGTGATCCGCTACCTGACCTTCTTCCACAACTACAATGTGAGTTTTGCACATGCAGCTGGGCCTTCCACATGGTTACTCCACACCCTCCAAATAAATCCCTACACACGCAGCCCTCACCAGCCCCGGCCAATGGCCCCTTGCAAGCCTCCTCCTCCTACCTGCCCACACCAGATATATCTGTCACTGCACCTGCGCGGGGCCCCGGGAGCCTGCTCCTTTGTGCCCACCCAGCTGAGTCTAGCCGTGCGTTGCCCTCGGACCCCCTCAGACGTGGCCACGCCCCCTCTAGGCACCCACTGGCTCCCATGACCACACCGGCTGTGCCCTCGGCAAGGCCCCGCCCCTCCCACCCCCATCTGGGTGCCCACAGCTGACCTGAGTTGTGGCCACACCCTCAACGAGGCTCCCTCTGCCCCAACCCAGATCCTCATCGCCACACTGCGGGTGGCCCTGCCCAGCGTCATGCGCTTCTGCTGCTGCGTGGCTGTCATCTACCTGGGCTACTGCTTCTGTGGCTGGATCGTGCTGGGGCCCTATCATGTGAAGGTACATCTAACCCCTGATGTCCCTGACATTGACCCTGTGACCTTGTCATTGACACTGTGACCCCCAGATGACCCCTTGGTGACTGCTGGGAGTCTGTCCACTGTCCCCTGTGGTCCTTGGTGACCCTGACACTGACCCTGTGCCATTATTGTTGTCACAGTTGTTGATGACCCTATTTCGACCTGAATTACTCCCCTCCTGCTCTATCTACCCAGACCCTAGGTCGGCCCTGTGGCCCTGTCATTGACCCGTGGTCCCGGCCATTCACATGGGACCCCAGCCTGGGACCTGGCCATTCACATAGTGACCCCAGCCTGGGACCCGGCCATTCACGTGGGACCCCAGCCTGGGTCCCGGCCATTCACGTGGGACCCCAGCCTGGGACCCGGCCATTCACAGGGGCCCTAGCCTGGAACCCGACCATTCACATGGTGACCGCAGCCCGGGACCCGGCCATTCATGTGGGGCCCCAGCCACCAGCTCCTAGCCATTTGCATGGGACCCCAGCCTGACCCCAGCCCCCGGTTCCTGGCCATGCCTTGGCTCCCTCTGACCCCGCCGCCCCTCTGGCAGTTCCGCTCACTCTCCATGGTGTCTGAGTGCCTGTTCTCGCTCATCAATGGGGACGACATGTTTGTGACGTTCGCCGCCATGCAGGCGCAGCAGGGCCGCAGCAGCCTGGTGTGGCTCTTCTCCCAGCTCTACCTTTACTCCTTCATCAGCCTCTTCATCTACATGGTGCTCAGCCTCTTCATCGCGCTCATCACCGGCGCCTACGACACCATCAAGGTCAGCCGCATGCACCCAGCCCTGAGCTCGGGCTCTGGGTGCCCTGGAGTCTGCCATGAGGGGGTCTTGGGGACACCGCAGGGTGAACAGAGAAGACCCAGGAGAGAATATGGGAGACTCTATGAAACCAAAAAGAGGGTGGTTCAGAACTGGGGGGCGCAGGGGGATGTCAAGGTGGGCTTGGGCCAGGAGGGGGCCTGAGTCAGTCTTTGCCAACAGGGCAACCGAGTCATAGAGTTTATTTATTTATTTGTTTATTTGAGACGGAGTCTTGCTCTGTCACCCAGGGTGGAGTGCAGTGGTGCGATCTTGACTCACTGCAACCTCCACCTCCCGGGTTCAAGCAATTCTGTCTCAGCCTCCTGAGTAGCTGGGACTACAGGCACACGCCACCACGTCCAGCTAATTTTTGTATTTTTAGTAGAGATGGCATTTCACCGCATTGGTCAGGCTGGTCTCAAACTCCTGGCCTCAGGAGATCTACTGCCTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACCACGCCCGGCCTATTTTATTTTATTATTAAAGTATTGTTCTTTATTTTATTAGAGACAAGGGTCTCACTGTGTTACCCAGGCTGGTTTCAAACTCCTGAGGTCAAGTGATCCTCCCACTTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCACACCCAGCCTATTATTATTATTTTTTTTTTGAAATGGAATCTTACCCTGTGGCCCAGGCTGGAGTGCAATGGCATGATCTCGGCTCACTGCAACCTCCACCTTCTGAGTTGAAGCGATCCTTGTGCCTCAGCCTCCTGAGTAGCTGGGATTACTTGCACGTGCCACCACACCTGGCTAATTTTTGTATTTTTACTAGAGATGGGGTTTCACCACGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCTGCCTTGGCCTCCCAAGGTGCTGGGATTTCAGGCATGAGCCACTGAACCCAGCTAAGTCATACAGTTTCAATGACCTTGTCATTGACCCTGGGACGTTGCCATTAACATGGTGATCCTCAGCTGGCCCCATTCCTATGGCGGACCTCTAAAAACCCAACCCTGACCCCAGCCCCCAGCCATGCCCCCGACTCCCTCTGACCCTGCCCAAGGTTAGCTTCTTTATTTATTTATTTTTTTTGAGACGGAGTCTCGCTGTGTCACCCAGGCTGGAGTGCAGTGGTGCAATCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTACTGAGTAGCTGGGATTATAGGCACACGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGACCAGGCTGGTCTCAAACTCCTGACCTTGTGATCCGCCCACCTCAGGCTCCCAAAGTGCTGGGATTACGGGCGTGAGCCACTGTGCCCGGCCCAGGTTAGCTTCTGAGCAGTAAAACTGGGCTCAACCCAGGGCTGTCTGATTCCAGAAGCCGTGCTCCTAACCCCTCTGTCCTCAGTTTAGTAGGGTGGCTGGGAACAGTGGTTTCCCTGCAAGCTGCAAGGGTCAGGGGACAGAGCAGGATGCGGAAGTGGCAGGTAGATAGGATTCTTTCAGCAGATATATCTAAGGGCCAAGATCTGTGCTGGGTTCTGGGCATGGAGGAAAATCAGGTGTGCATGATCCGTCCAAGGCCTGTGGGCAAGGATGGCACAGGAACAGACATCCCATGACCAATGACCTACTTGTAACAGGTATGAAGGAAGAGTGGAAGGTTGCAGAGGGACCCCTGCTTTAGATTGGTATGACAGGAGATCCAGGAGAGCTTCTAGAATGTTCTATCCATCACTAGTCTCTAGCCCTATGCAGCTATTTAAATTTTGATT | CCCCAGATCAGCGCTGCCTGGGGGCCGTGACCTCCCCAGGAATCCGCTGAGCCTCAGATCAGCACAGACCAGGGACCCCGTCCTGTGCTGAGATCCCCCAAGCCCCAGACCAGCACTGACCGGGGTTCTTGACTCACCCCAAGCAAGCCCTGAGCCCACTGACCAACCAAAACCAGCCGTGCAGCCCCCTAGGTCTCCAGCCTGGCCTGGCACCAATGCTAGCCTCCCAAGGCTCCATGCCATCCTTGGCCCTACCCGCTCTGCCCTCCCCGCAGGAGACAACAGCTTCCGGCTCCTGTTTGACGTGGTGGTCATCCTCACCTGCTCCCTGTCCTTCCTCCTCTGCGCCCGCTCACTCCTTCGAGGCTTCCTGCTGCAGAACGTGAGGCTTCTGCGTCATGTGTGCTGGTGTCCTCCCCGCCTGGCCCTGGGGCGATAAAAGCCAGGGCTTTGAGGGTCCTGTGCCTGGTCAGGCCCTCACCCCGCCTGCCTTCTGCAGGAGTTTGTGGGGTTCATGTGGCGGCAGCGGGGACGGGTCATCAGCCTGTGGGAGCGGCTGGAATTTGTCAATGGCTGGTACATCCTGCTCGTCACCAGCGATGTGCTCACCATCTCGGGCACCATCATGAAGATCGGCATCGAGGCCAAGGTGCGTCCTGCCAACACCCTGGGCCCCAGGTCCCATCCCTGCTGTCAGTGCCTATCCGGGGCCATATCCTCCCCCAGGCCCCCCAAAGGAAGGGCTGGGCCAGATAGGTTGACGCAGCTCCCACCCGCAGAACTTGGCGAGCTACGACGTCTGCAGCATCCTCCTGGGCACCTCGACGCTGCTGGTGTGGGTGGGCGTGATCCGCTACCTGACCTTCTTCCACAACTACAATGTGAGTTTTGCACATGCAGCTGGGCCTTCCACATGGTTACTCCACACCCTCCAAATAAATCCCTACACACGCAGCCCTCACCAGCCCCGGCCAATGGCCCCTTGCAAGCCTCCTCCTCCTACCTGCCCACACCAGATATATCTGTCACTGCACCTGCGCGGGGCCCCGGGAGCCTGCTCCTTTGTGCCCACCCAGCTGAGTCTAGCCGTGCGTTGCCCTCGGACCCCCTCAGACGTGGCCACGCCCCCTCTAGGCACCCACTGGCTCCCATGACCACACCGGCTGTGCCCTCGGCAAGGCCCCGCCCCTCCCACCCCCATCTGGGTGCCCACAGCTGACCTGAGTTGTGGCCACACCCTCAACGAGGCTCCCTCTGCCCCAACCCAGATCCTCATCGCCACACTGCGGGTGGCCCTGCCCAGCGTCATGCGCTTCTGCTGCTGCGTGGCTGTCATCTACCTGGGCTACTGCTTCTGTGGCTGGATCGTGCTGGGGCCCTATCATGTGAAGGTACATCTAACCCCTGATGTCCCTGACATTGACCCTGTGACCTTGTCATTGACACTGTGACCCCCAGATGACCCCTTGGTGACTGCTGGGAGTCTGTCCACTGTCCCCTGTGGTCCTTGGTGACCCTGACACTGACCCTGTGCCATTATTGTTGTCACAGTTGTTGATGACCCTATTTCGACCTGAATTACTCCCCTCCTGCTCTATCTACCCAGACCCTAGGTCGGCCCTGTGGCCCTGTCATTGACCCGTGGTCCCGGCCATTCACATGGGACCCCAGCCTGGGACCTGGCCATTCACATAGTGACCCCAGCCTGGGACCCGGCCATTCACGTGGGACCCCAGCCTGGGTCCCGGCCATTCACGTGGGACCCCAGCCTGGGACCCGGCCATTCACAGGGGCCCTAGCCTGGAACCCGACCATTCACATGGTGACCGCAGCCCGGGACCCGGCCATTCATGTGGGGCCCCAGCCACCAGCTCCTAGCCATTTGCATGGGACCCCAGCCTGACCCCAGCCCCCGGTTCCTGGCCATGCCTTGGCTCCCTCTGACCCCGCCGCCCCTCTGGCAGTTCCGCTCACTCTCCATGGTGTCTGAGTGCCTGTTCTCGCTCATCAATGGGGACGACATGTTTGTGACGTTCGCCGCCATGCAGGCGCAGCAGGGCCGCAGCAGGGCCGCAGCAGCCTGGTGTGGCTCTTCTCCCAGCTCTACCTTTACTCCTTCATCAGCCTCTTCATCTACATGGTGCTCAGCCTCTTCATCGCGCTCATCACCGGCGCCTACGACACCATCAAGGTCAGCCGCATGCACCCAGCCCTGAGCTCGGGCTCTGGGTGCCCTGGAGTCTGCCATGAGGGGGTCTTGGGGACACCGCAGGGTGAACAGAGAAGACCCAGGAGAGAATATGGGAGACTCTATGAAACCAAAAAGAGGGTGGTTCAGAACTGGGGGGCGCAGGGGGATGTCAAGGTGGGCTTGGGCCAGGAGGGGGCCTGAGTCAGTCTTTGCCAACAGGGCAACCGAGTCATAGAGTTTATTTATTTATTTGTTTATTTGAGACGGAGTCTTGCTCTGTCACCCAGGGTGGAGTGCAGTGGTGCGATCTTGACTCACTGCAACCTCCACCTCCCGGGTTCAAGCAATTCTGTCTCAGCCTCCTGAGTAGCTGGGACTACAGGCACACGCCACCACGTCCAGCTAATTTTTGTATTTTTAGTAGAGATGGCATTTCACCGCATTGGTCAGGCTGGTCTCAAACTCCTGGCCTCAGGAGATCTACTGCCTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACCACGCCCGGCCTATTTTATTTTATTATTAAAGTATTGTTCTTTATTTTATTAGAGACAAGGGTCTCACTGTGTTACCCAGGCTGGTTTCAAACTCCTGAGGTCAAGTGATCCTCCCACTTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCACACCCAGCCTATTATTATTATTTTTTTTTTGAAATGGAATCTTACCCTGTGGCCCAGGCTGGAGTGCAATGGCATGATCTCGGCTCACTGCAACCTCCACCTTCTGAGTTGAAGCGATCCTTGTGCCTCAGCCTCCTGAGTAGCTGGGATTACTTGCACGTGCCACCACACCTGGCTAATTTTTGTATTTTTACTAGAGATGGGGTTTCACCACGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCTGCCTTGGCCTCCCAAGGTGCTGGGATTTCAGGCATGAGCCACTGAACCCAGCTAAGTCATACAGTTTCAATGACCTTGTCATTGACCCTGGGACGTTGCCATTAACATGGTGATCCTCAGCTGGCCCCATTCCTATGGCGGACCTCTAAAAACCCAACCCTGACCCCAGCCCCCAGCCATGCCCCCGACTCCCTCTGACCCTGCCCAAGGTTAGCTTCTTTATTTATTTATTTTTTTTGAGACGGAGTCTCGCTGTGTCACCCAGGCTGGAGTGCAGTGGTGCAATCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTACTGAGTAGCTGGGATTATAGGCACACGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGACCAGGCTGGTCTCAAACTCCTGACCTTGTGATCCGCCCACCTCAGGCTCCCAAAGTGCTGGGATTACGGGCGTGAGCCACTGTGCCCGGCCCAGGTTAGCTTCTGAGCAGTAAAACTGGGCTCAACCCAGGGCTGTCTGATTCCAGAAGCCGTGCTCCTAACCCCTCTGTCCTCAGTTTAGTAGGGTGGCTGGGAACAGTGGTTTCCCTGCAAGCTGCAAGGGTCAGGGGACAGAGCAGGATGCGGAAGTGGCAGGTAGATAGGATTCTTTCAGCAGATATATCTAAGGGCCAAGATCTGTGCTGGGTTCTGGGCATGGAGGAAAATCAGGTGTGCATGATCCGTCCAAGGCCTGTGGGCAAGGATGGCACAGGAACAGACATCCCATGACCAATGACCTACTTGTAACAGGTATGAAGGAAGAGTGGAAGGTTGCAGAGGGACCCCTGCTTTAGATTGGTATGACAGGAGATCCAGGAGAGCTTCTAGAATGTTCTATCCATCACTAGTCTCTAGCCCTATGCAGCTATTT | pathogenic | 295,077 |
Evaluate the clinical significance of the mutation at chromosome 19, position 7542022 in gene PNPLA6 (patatin like domain 6, lysophospholipase ): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Hereditary_spastic_paraplegia_39', 'Inborn_genetic_diseases'] | CAGTGCTAGAAGCTGACCTGACCGAGGGCGACCTGGCTAACTCCCATCTGCCCTCTGAAGTGCTTTATATGCTCAAGAACGTCCGGTCAGTGTTGGGGTGCAGGTGGGGGTGGAGGGCTGCAGACGTGGGGCCGCCCTGACCTCCAGCCTCTGTCGCCCACCGCCTGTCCAACAGGGTGCTGGGCCACTTCGAGAAGCCACTCTTCCTGGAGCTCTGCCGCCACATGGTCTTCCAGCGGCTGGGCCAGGGTGACTACGTCTTCCGGCCGGGCCAGCCAGATGCCAGCATCTACGTGGTGCAGGACGGGCTGCTGGAGCTCTGTCTGCCAGGGCCTGTGAGTGGGCCTCCCCAGGGGCTGCTGCAGGAGGATGGGTGGTGGGGATGGGCAGCAGGCATTGGTCTGTAGAGCTGGTGGTCTTTGGAGATGCGTCATCGGGAGTCAGGGGAACGGGTGACCGAGGACATTTGGGGTAGTCTGCGTAGTTGCTCAGTAGTTACAAGTATTGAACGATGGGAGATGCCTGCTCGTTGGAAGGGTTGGTGGGTTCCCCTGAGAAGGGATGAGAAGTGTCAGTGATCATTGGGATGGATGAGGGGGCGACATGCCAGTCACCAGGGCGAGGCCACTGAGGGTCCACGGTCTCCTGTGTCTCAGGACGGGAAGGAGTGTGTGGTGAAGGAAGTGGTTCCTGGGGACAGCGTCAACAGCCTTCTCAGCATCCTGGATGTCATCACCGTGAGTGACCAGTTTCTGAGGCAGGGGGGCTGGGGTGCAAGGTCCCACCCAAGGGACTAGGTTGAAGGAAATCACAGGGTCCCCAATCTCTGGTTCATCCGTTATGCTGCCGATGGCCCCTCACGGGACTGGCGCCAGGAAGGATTAGGGGAGTAGCGAGGGGGACTCGCAGCCTCTGCCCTTGTCTCTCTTCACGCCCTCCCCTCCCCCAGGGTCACCAGCATCCCCAGCGGACCGTGTCTGCCCGGGCGGCCCGGGACTCCACGGTGCTGCGCCTGCCGGTGGAAGCATTCTCCGCGGTCTTCACCAAGTACCCGGAGAGCTTGGTGCGGGTCGTGCAGGTCAGTGGGCCTTCGCCTCCTGTCACCCCCTGAGGGACCCCACCCTGGCCCCCACCCATTCCAGGCTCCAAGGGACCGAGGCCCAGCAGCCAGCAGGCGCTGGAGCTGTGGTTATCGGCCTGGAGCAGCCAGATGTCTGCAGCCGCGGACTCCTCCCTTAGCTGCCTCGCCCCATTTCCCCAGACTGTGGGTCTCTCCCTGGTTCCCGCCCGACCCCTTATGCTGCGAACTAGCCCGGCCCACCATCTGGCCCTGCCCCTTACCCCGCCCCATCTTATGGCCACGCCCCTCGAGCCCTGCAGATCATCATGGTGCGGCTGCAGCGAGTCACCTTCCTGGCACTGCACAACTACCTGGGTCTGACCAATGAGCTCTTCAGCCACGTGAGTGGGTGGCGGGGAGCGAGCACAGGGGGGATGGGGGCGAGGTCTCCCTCCCAGGACAGGCCACAAGCTGTTCTCTGCCCCCAGGAGATCCAGCCCCTGCGTCTGTTCCCCAGCCCCGGCCTCCCAACTCGCACCAGCCCTGTGCGGGGCTCCAAGAGAATGGTCAGCACCTCAGCTACAGACGAGCCCAGGGAGACCCCAGGGCGGCCACCCGATCCCACCGGGGCCCCGCTGCCTGGACCTACAGGTACCCAGGGACCCGAGGCCAGCCGAGCCCAATCTCCCAGGAAGCCCCGTCTCAGCCGCCAGCCCCTTTTTCAGTTCTGCATAGAGTCAACCTGACCTTGTCCAGCCCCACAGGGACTCCATAGCGGGGTACCCAGGTCTGACTCCTATCTGGTACCGAGGAAGCTGTGGCCTCGTCCCCAAGGGCCCATTGGAATTGCTTTAACTAGTTAATCAGTCGCCAGCATCTCCTTATCTCCCAACCTGCTAATCCTCCTAGTGGCTCTGAGGGGCAGGAGCCTGAACATGTGTCTCCCCCAGGGGACCCTGTGAAGCCCACATCCCTGGAAACCCCCTCGGCCCCTCTGCTGAGCCGCTGCGTCTCCATGCCAGGGGACATCTCAGGTTTGGAGCACTGGGTCTGCGGGGAGGGCCATGGAGCTTCCAGGTTTGAATCCAGGTCCACCGCCTGCCTGTCTTGATTGTTTTAATCTGCGAAATGGGAACACTGCCAGTACTTCCCCAGGCACTGTTTTGTAGATATTCATTGAGATAGTGCTTCTCCCACCTGTTAAGAGGGATTCAGAGGGAGAGTGCAGGCGTTGATTAGTCATGTCTGCTACAGCAGTGGCCCATGGCACATTGGTATCCATTGGTCTCAGACTGCAACTGTGGTTACTCTCATCTTTTTCTTTTCTTTTGAGACCTGTCTCCCAGGCTAGAGTGCAGTGGTGCTGTCATAGCTCACTGCAGCCTCGAACTCCTATGCTCAAGTGATCCTCCAGCCCCAGCCTCCCAAATAGCTGGAACTACAGGCCTGCACCACTACACCTGGCTCATTTTTTAAAAATCTTACTCTCATCTTTATGGTTTTTGTTGCCCCCCTGCCTGCCTGCAGGCTTGCAGGGTGGCCCCCGCTCCGACTTCGACATGGCCTATGAGCGTGGCCGGATCTCCGTGTCCCTGCAGGAAGAGGCCTCCGGGGGGTCCCTGGCAGCCCCCGCTCGGGTAAGGCTTGGGACCCTGCCCGGTGGTGGAGCCCGCAGGGGAAGGTGGCTGGGAGGGAGCATCAGGAGGTCACAAGCCTGCCCCACTCAGACCCCCACTCAGGAGCCTCGTGAGCAGCCGGCAGGCGCCTGTGAATACAGCTACTGTGAGGATGAGTCGGCCACTGGTGGCTGCCCTTTCGGGCCCTACCAGGGCCGCCAGACCAGCAGCATCTTCGAGGCAGCAAAGCAGGAGCTGGCCAAGCTGATGCGGATTGAGGTGGGCAGCCGAGGGGAGCTGGGCACAGGGCGCAAGGGAGGCCTGGCTGCGCCCATCTCAACCCCCCTACCTCCCCAGGACCCCTCCCTCCTGAACAGCAGAGTCTTGCTGCACCACGCCAAAGCTGGCACCATCATTGCCCGCCAGGGAGACCAGGTGAGGCTGACCCCTGACCTGTAACCATGCCACCTGAGATCATTCCCTATGACTTCTGTGACCTCTGATCCCTGCCCTTTGACTGTAAGACCAGCACCTTCTCCCATAGAAGCAGACCTCTCTCATCCTATCATTTCCAACCTCTAACCCTTGGGTCCTGTGACCCCCACCCCCTAACCCCACCCTATGTCCTCTGGACCTGTCAACCCTTCACCTGTGACCCCTGAACCTTTTGCCCTAGGACTCCAACTCCTAGATCTCTCCTGCCTGCCCTGGCTCTTCCTGTAATTCTGTTTTCTGAACTTCTGATCCTGCAGTATTCACTAACATGTCTGCTTCTCATGCTGACCGCTGCCAGGATAGGGGCTCAATAAATGGCTACAAATCGCCATCTGGCCTCGGAAGGCCATGAACCAGCCCTGGGTCGGGGTTTCAGGGCCTTGTGGCGGCACCCAGGATGTGTAGGAAAATGTATCCTACCATTCTGTCCACTGTCCATATGGGGAAACTGAGGCCCATCAAGGGTTAGTGACCCGACTACCAGCTGAAAGTCAGGAAGCCTCAGGGTAGGAGGAGGAGGAGGAAGAAGAAGAGGAAAGTTGAAACCCACACTCTGTCCCCAGAGTGTGGCAGATGATCTAGAAAGTTCTCTGCTTCCTCATCAGTGGAATGAGGTAATAAAGAAGAGATGCCTAGTTCGCAGAACCCCAGTAAGACTTCTTTTTTTTCTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCTGCAGTGGCGTGACGGTGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCTGCCACCATGCCCGGCTAATTTTTTGTATTTTTACTAGAGAGGGGGTTTCACTGTGTTAGCCAGGGTGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTAGGCCT | CAGTGCTAGAAGCTGACCTGACCGAGGGCGACCTGGCTAACTCCCATCTGCCCTCTGAAGTGCTTTATATGCTCAAGAACGTCCGGTCAGTGTTGGGGTGCAGGTGGGGGTGGAGGGCTGCAGACGTGGGGCCGCCCTGACCTCCAGCCTCTGTCGCCCACCGCCTGTCCAACAGGGTGCTGGGCCACTTCGAGAAGCCACTCTTCCTGGAGCTCTGCCGCCACATGGTCTTCCAGCGGCTGGGCCAGGGTGACTACGTCTTCCGGCCGGGCCAGCCAGATGCCAGCATCTACGTGGTGCAGGACGGGCTGCTGGAGCTCTGTCTGCCAGGGCCTGTGAGTGGGCCTCCCCAGGGGCTGCTGCAGGAGGATGGGTGGTGGGGATGGGCAGCAGGCATTGGTCTGTAGAGCTGGTGGTCTTTGGAGATGCGTCATCGGGAGTCAGGGGAACGGGTGACCGAGGACATTTGGGGTAGTCTGCGTAGTTGCTCAGTAGTTACAAGTATTGAACGATGGGAGATGCCTGCTCGTTGGAAGGGTTGGTGGGTTCCCCTGAGAAGGGATGAGAAGTGTCAGTGATCATTGGGATGGATGAGGGGGCGACATGCCAGTCACCAGGGCGAGGCCACTGAGGGTCCACGGTCTCCTGTGTCTCAGGACGGGAAGGAGTGTGTGGTGAAGGAAGTGGTTCCTGGGGACAGCGTCAACAGCCTTCTCAGCATCCTGGATGTCATCACCGTGAGTGACCAGTTTCTGAGGCAGGGGGGCTGGGGTGCAAGGTCCCACCCAAGGGACTAGGTTGAAGGAAATCACAGGGTCCCCAATCTCTGGTTCATCCGTTATGCTGCCGATGGCCCCTCACGGGACTGGCGCCAGGAAGGATTAGGGGAGTAGCGAGGGGGACTCGCAGCCTCTGCCCTTGTCTCTCTTCACGCCCTCCCCTCCCCCAGGGTCACCAGCATCCCCAGCGGACCGTGTCTGCCCGGGCGGCCCGGGACTCCACGGTGCTGCGCCTGCCGGTGGAAGCATTCTCCGCGGTCTTCACCAAGTACCCGGAGAGCTTGGTGCGGGTCGTGCAGGTCAGTGGGCCTTCGCCTCCTGTCACCCCCTGAGGGACCCCACCCTGGCCCCCACCCATTCCAGGCTCCAAGGGACCGAGGCCCAGCAGCCAGCAGGCGCTGGAGCTGTGGTTATCGGCCTGGAGCAGCCAGATGTCTGCAGCCGCGGACTCCTCCCTTAGCTGCCTCGCCCCATTTCCCCAGACTGTGGGTCTCTCCCTGGTTCCCGCCCGACCCCTTATGCTGCGAACTAGCCCGGCCCACCATCTGGCCCTGCCCCTTACCCCGCCCCATCTTATGGCCACGCCCCTCGAGCCCTGCAGATCATCATGGTGCGGCTGCAGCGAGTCACCTTCCTGGCACTGCACAACTACCTGGGTCTGACCAATGAGCTCTTCAGCCACGTGAGTGGGTGGCGGGGAGCGAGCACAGGGGGGATGGGGGCGAGGTCTCCCTCCCAGGACAGGCCACAAGCTGTTCTCTGCCCCCAGGAGATCCAGCCCCTGCGTCTGTTCCCCAGCCCCGGCCTCCCAACTCGCACCAGCCCTGTGCGGGGCTCCAAGAGAATGGTCAGCACCTCAGCTACAGACGAGCCCAGGGAGACCCCAGGGCGGCCACCCGATCCCACCGGGGCCCCGCTGCCTGGACCTACAGGTACCCAGGGACCCGAGGCCAGCCGAGCCCAATCTCCCAGGAAGCCCCGTCTCAGCCGCCAGCCCCTTTTTCAGTTCTGCATAGAGTCAACCTGACCTTGTCCAGCCCCACAGGGACTCCATAGCGGGGTACCCAGGTCTGACTCCTATCTGGTACCGAGGAAGCTGTGGCCTCGTCCCCAAGGGCCCATTGGAATTGCTTTAACTAGTTAATCAGTCGCCAGCATCTCCTTATCTCCCAACCTGCTAATCCTCCTAGTGGCTCTGAGGGGCAGGAGCCTGAACATGTGTCTCCCCCAGGGGACCCTGTGAAGCCCACATCCCTGGAAACCCCCTCGGCCCCCTCTGCTGAGCCGCTGCGTCTCCATGCCAGGGGACATCTCAGGTTTGGAGCACTGGGTCTGCGGGGAGGGCCATGGAGCTTCCAGGTTTGAATCCAGGTCCACCGCCTGCCTGTCTTGATTGTTTTAATCTGCGAAATGGGAACACTGCCAGTACTTCCCCAGGCACTGTTTTGTAGATATTCATTGAGATAGTGCTTCTCCCACCTGTTAAGAGGGATTCAGAGGGAGAGTGCAGGCGTTGATTAGTCATGTCTGCTACAGCAGTGGCCCATGGCACATTGGTATCCATTGGTCTCAGACTGCAACTGTGGTTACTCTCATCTTTTTCTTTTCTTTTGAGACCTGTCTCCCAGGCTAGAGTGCAGTGGTGCTGTCATAGCTCACTGCAGCCTCGAACTCCTATGCTCAAGTGATCCTCCAGCCCCAGCCTCCCAAATAGCTGGAACTACAGGCCTGCACCACTACACCTGGCTCATTTTTTAAAAATCTTACTCTCATCTTTATGGTTTTTGTTGCCCCCCTGCCTGCCTGCAGGCTTGCAGGGTGGCCCCCGCTCCGACTTCGACATGGCCTATGAGCGTGGCCGGATCTCCGTGTCCCTGCAGGAAGAGGCCTCCGGGGGGTCCCTGGCAGCCCCCGCTCGGGTAAGGCTTGGGACCCTGCCCGGTGGTGGAGCCCGCAGGGGAAGGTGGCTGGGAGGGAGCATCAGGAGGTCACAAGCCTGCCCCACTCAGACCCCCACTCAGGAGCCTCGTGAGCAGCCGGCAGGCGCCTGTGAATACAGCTACTGTGAGGATGAGTCGGCCACTGGTGGCTGCCCTTTCGGGCCCTACCAGGGCCGCCAGACCAGCAGCATCTTCGAGGCAGCAAAGCAGGAGCTGGCCAAGCTGATGCGGATTGAGGTGGGCAGCCGAGGGGAGCTGGGCACAGGGCGCAAGGGAGGCCTGGCTGCGCCCATCTCAACCCCCCTACCTCCCCAGGACCCCTCCCTCCTGAACAGCAGAGTCTTGCTGCACCACGCCAAAGCTGGCACCATCATTGCCCGCCAGGGAGACCAGGTGAGGCTGACCCCTGACCTGTAACCATGCCACCTGAGATCATTCCCTATGACTTCTGTGACCTCTGATCCCTGCCCTTTGACTGTAAGACCAGCACCTTCTCCCATAGAAGCAGACCTCTCTCATCCTATCATTTCCAACCTCTAACCCTTGGGTCCTGTGACCCCCACCCCCTAACCCCACCCTATGTCCTCTGGACCTGTCAACCCTTCACCTGTGACCCCTGAACCTTTTGCCCTAGGACTCCAACTCCTAGATCTCTCCTGCCTGCCCTGGCTCTTCCTGTAATTCTGTTTTCTGAACTTCTGATCCTGCAGTATTCACTAACATGTCTGCTTCTCATGCTGACCGCTGCCAGGATAGGGGCTCAATAAATGGCTACAAATCGCCATCTGGCCTCGGAAGGCCATGAACCAGCCCTGGGTCGGGGTTTCAGGGCCTTGTGGCGGCACCCAGGATGTGTAGGAAAATGTATCCTACCATTCTGTCCACTGTCCATATGGGGAAACTGAGGCCCATCAAGGGTTAGTGACCCGACTACCAGCTGAAAGTCAGGAAGCCTCAGGGTAGGAGGAGGAGGAGGAAGAAGAAGAGGAAAGTTGAAACCCACACTCTGTCCCCAGAGTGTGGCAGATGATCTAGAAAGTTCTCTGCTTCCTCATCAGTGGAATGAGGTAATAAAGAAGAGATGCCTAGTTCGCAGAACCCCAGTAAGACTTCTTTTTTTTCTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCTGCAGTGGCGTGACGGTGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCTGCCACCATGCCCGGCTAATTTTTTGTATTTTTACTAGAGAGGGGGTTTCACTGTGTTAGCCAGGGTGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTAGGCC | pathogenic | 295,119 |
Regarding the variant at chromosome 19 and position 7550585, affecting gene PNPLA6 (patatin like domain 6, lysophospholipase ): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Hereditary_spastic_paraplegia_39'] | AGATTACTTATAATACCTAATACAATGTAAATGCTATGTAAATAGTCATTATACTGTATTATTTAGGGAAAAACGGGGAAAATAGTCTGTAAATGGTCTGCGCAGGTGCAATTTTTTTTTCCTGAATATTTTAGATCCAAGGTTGGTTGAATCCTGGGTATATGGAACATATATATATATATACACACACATATATATACACACATATATATATAGAGAGAGAGATGCTGCTCATCTATATATAATCTATGTAAAAAAATTTTTCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCAGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCTCCTCCCGGGTTCACGCCATTTTCCTGCCTCAGACTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCTGGCTAATTTTTTGTACTTTTAGTAGAGACGTGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCTGCCTCAGGCCTCCCAAAGTGTTGGGATTACAGGCATGAGCCATCGCGCCCGGCTAAAAAATATTTTTATATTTATTTATATTTATATATAGATGGTGCTTATATCCAAAGTCTTTATTCTCTCCTTCATGTTTCTTTTTTTTCTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCACGCTGGAGTGCAGTGGCGCGATCTTGGCTCATTGCAAGCTCCGCCTCCCGGTTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACCACACCCGGCTAATTTTTTGTATTTTCAGTAGAGACGGGGTTTCACTGTATTAGCCAGGATGGTCTCGATCTCCTGACCTCTTGATCCGCCTGCCTCGGCCTCCCAAAGTTCTGGGATTACAGGCGTGAGCCACCGCGCCTGGCCTTCTTCTTCTTTTTTTTTTTAAAGACAGTGTCTCACTCTGTCGCCCAGGCTGGAGTGCAATGGCATGATCTCAGCTCACTGCAACCTCAGCCTTCCAGGTTCAGGCAATTCTCTTGCCTCAGCTTCCTGAGTAGCTGGAATTACAGACATGTGCCACGACGCCCAGCTAATTTTTTTATTTTAGTAGAGACAGGTTTCGCCACGTTGGCCAGGCTGGTGCCGAACTCCTGGCCTCAAGTGATCCCCCCTGCCTGGCCTCCCAAAGCGCTGGGATTACAGCCGTGAGCCACCGCGCCCTGCGCCTTCATATTTTTCTTAACCCTTCCTTTCTTCTTTAATTTTTTCCTGTGGGGGCATGTTGACCTGAGCTGGGGTCCACGCTGTCCGGGTTCTGTGTTCATCACATCCCCTGCCCGCACAGGACGTGAGCCTGCACTTCGTGCTCTGGGGCTGCCTGCACGTGTACCAGCGCATGATCGACAAGGCGGAGGACGTGTGCCTGTTCGTAGCGCAGCCCGGGGAACTGGTGGGGCAGCTGGCGGTGCTCACTGGCGAACCTCTCATCTTCACACTGCGAGCCCAACGCGACTGCACCTTCCTGCGGATCTCCAAGTCCGACTTCTATGAGTATGACAGCCCGAAGTTGGAGTGTGGGTGGCACTCGGAGGACCCCAACCCGTGGGAGTGGCCAGAACCCCATCCCTCAACCTCACTCCTGGAAGAGCAGAAGGGAGCCCCCAGATCTGGCCTCCCAGCGCCGGTGTAGGACGGTTTTGAGGCCTTCCTCTTTCATCCCAAGTCTGTTCCTGCAGGATCATGCGCGCACAGCCCAGTGTGGTGCTGAGTGCGGCGCACACGGTGGCAGCCAGGATGTCGCCCTTCGTGCGCCAGATGGACTTCGCCATCGACTGGACTGCAGTGGAGGCGGGACGCGCGCTGTACAGGTGCAGCTCCCACCGCGCTGCTCAGGCCCGGCCTAGGGGTGGGGACCTGGGGGTGGTCAGACCTTGCTGACCTCCACGCCCACTCAGGCAGGGCGACCGCTCCGACTGCACTTACATCGTGCTCAATGGGCGGCTGCGTAGCGTGATCCAGCGAGGCAGTGGCAAGAAGGAGCTGGTGGGCGAGTACGGCCGCGGCGACCTCATCGGCGTGGTGAGCGCGACCCCCACCCACTGACCTCTGGCCTTTTCCAGGCCAGTCCCTCGACAACTCACACACATCATCCCGGGTAATCCAGGGAGTGGTGAATGCAGCTCCCGACCTCTGAGGTCACCCAGTCCACTCCCCGCCCAGACCTCATTTCGTTGGAAAAAGGGGATTCCGCCTGTCGTGGATCCCTGTCCTCTCCCTCTCCCCAGAGCTCTAATGGGTAGCGAGCGAGGCTTGCTTCCCTACACCCCCATTGCAGGGGAGCCCTAGATGGGGCAGTACAGCCCCCTTTCCACCCATCTTCGGCCTCCTCATTCCCCACCCAAGCAGCCCCAATCATGCACGCGGCCCCCCAGGTGGAGGCACTGACCCGGCAGCCGCGAGCCACGACGGTGCACGCGGTGCGCGACACGGAGCTGGCCAAGCTTCCCGAGGGCACCTTGGGTCACATCAAACGCCGGTACCCGCAGGTGCGGCCTGTTGTGGGCGGGGCAGAGAGGCGGAGGCGGGACTCCGGGGGGGTGGGGGCCGGGCCTAGTGTGTGGGCGGGGCTTACAGAGGGGCGGGGTCGAGGGAGGGGCCGAAGCGAGAGAGTGAGGGCGGGGGCTCTCGGGGGTGGGACCCAGGTAACGGGCACCCAGGAGCCCCGGCATAGGAGGGAGAGGTGGGACCTGGACAGCCGCTTCCCAGGTCTCACTGAAATGCCGGCCTCCAACGCCCCCAGGTCGTGACCCGCCTTATCCACCTACTGAGCCAGAAAATTCTAGGGAATTTGCAGCAGCTGCAAGGACCCTTCCCAGGTGAGAGCCGGCCGGCCCAGAGCGTGCTGGGAGATGTAGTCCGGCGTCCAGAGCATGCTGGGAGGGAAGCCTTCTTTCCTGAGGGATGCTGGGAAATGGAGTTCCGCGAAGAAATCGTGCCCCTGAGGGTTTCAAACCCTAAGTAGGACCCAGGTGCAGAGCATTCTGGGGAATGGAGTTCGTGTTCCTGAGCATGCTGGGAAACGAAGTCCTCGACCCCTGGCGTGCTAGTTAATGGGCTCGAAAGTAAATCAGTGGTGCCGGGGAGGGAGTCTTAGGCGGTGGACTTGGCGTAGTCTGCCCGGGAGTCAGGGCTTGCTGGGGAAGTCCACGGCCTGGACGTTGAGAGAAAGGGAGTCCTAGATCAGAATATGATGGCAGGGCCGTCATGGTGGCTCATGCCTGTAATCTCAGCACTTTGGGAGGCTGAGGCAGGAGGATCGCTTGAGCCCAGGAGATTGAGTTTGAAACCAGCCTGGGCAACATAGTAGGACCCCCGTCTCTACAAAAATTTCAAACATTAGCTGGGCTTGGTGACACATGCCTGTAGTCTCAGCCACTCAGGAGGCTGAGGCGGGAGGATTGATTGCTTGAGCCCGGAGGTCGAGGCTGCAGTGAGCCGTGATCGTGCCACTGTACTCCAGCCGGGATGACAGAGCTAGAACCTGTTTCAGAAAAAATAAAACAGCAAACAAACAAAACTCCCCATACCATGATGGAAAATAGTCTGTGGATTGTTGTTTAGGACTCTGGGCACCTCGCCTTCTGAAGTTACAGCTTGCTGGGAGATGTAGCCCCCTGTTTCAGCCTGTGGCTTCAGTGAGCTAGAACAGAATGGGGCGTGCGGTGGGGTTGGAGGCCTGCTGAAATGAGGGCCTGAGTTTCTACATTGTGGTGGCCAGATTCTGGGCCAGCCCAGCAACCTAGATACCCCTTTTCCCTCCAGGGGTTCTACCCAATTGGCCCTGAGCCCTAGATCCCCCAAGGCGGGGGCAGGGCGGTAGTGGCAGAAAAGACATCATTAAGAAATTACAGAGGCCTGGGGCGGTGGGTCACGCCTGTAATCTCAGCACTTTGTGAGGCTGAGGCAGGTGAATCACTTGAGGTCAGGGGTTCGAGACCAGCCTGGCCAACGTGGTGAAACTCATCTCTACTAAAAGTACAAAAATTAGTCGGGTGTGGTGGTGGGTGCCTG | AGATTACTTATAATACCTAATACAATGTAAATGCTATGTAAATAGTCATTATACTGTATTATTTAGGGAAAAACGGGGAAAATAGTCTGTAAATGGTCTGCGCAGGTGCAATTTTTTTTTCCTGAATATTTTAGATCCAAGGTTGGTTGAATCCTGGGTATATGGAACATATATATATATATACACACACATATATATACACACATATATATATAGAGAGAGAGATGCTGCTCATCTATATATAATCTATGTAAAAAAATTTTTCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCAGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCTCCTCCCGGGTTCACGCCATTTTCCTGCCTCAGACTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCTGGCTAATTTTTTGTACTTTTAGTAGAGACGTGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCTGCCTCAGGCCTCCCAAAGTGTTGGGATTACAGGCATGAGCCATCGCGCCCGGCTAAAAAATATTTTTATATTTATTTATATTTATATATAGATGGTGCTTATATCCAAAGTCTTTATTCTCTCCTTCATGTTTCTTTTTTTTCTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCACGCTGGAGTGCAGTGGCGCGATCTTGGCTCATTGCAAGCTCCGCCTCCCGGTTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACCACACCCGGCTAATTTTTTGTATTTTCAGTAGAGACGGGGTTTCACTGTATTAGCCAGGATGGTCTCGATCTCCTGACCTCTTGATCCGCCTGCCTCGGCCTCCCAAAGTTCTGGGATTACAGGCGTGAGCCACCGCGCCTGGCCTTCTTCTTCTTTTTTTTTTTAAAGACAGTGTCTCACTCTGTCGCCCAGGCTGGAGTGCAATGGCATGATCTCAGCTCACTGCAACCTCAGCCTTCCAGGTTCAGGCAATTCTCTTGCCTCAGCTTCCTGAGTAGCTGGAATTACAGACATGTGCCACGACGCCCAGCTAATTTTTTTATTTTAGTAGAGACAGGTTTCGCCACGTTGGCCAGGCTGGTGCCGAACTCCTGGCCTCAAGTGATCCCCCCTGCCTGGCCTCCCAAAGCGCTGGGATTACAGCCGTGAGCCACCGCGCCCTGCGCCTTCATATTTTTCTTAACCCTTCCTTTCTTCTTTAATTTTTTCCTGTGGGGGCATGTTGACCTGAGCTGGGGTCCACGCTGTCCGGGTTCTGTGTTCATCACATCCCCTGCCCGCACAGGACGTGAGCCTGCACTTCGTGCTCTGGGGCTGCCTGCACGTGTACCAGCGCATGATCGACAAGGCGGAGGACGTGTGCCTGTTCGTAGCGCAGCCCGGGGAACTGGTGGGGCAGCTGGCGGTGCTCACTGGCGAACCTCTCATCTTCACACTGCGAGCCCAACGCGACTGCACCTTCCTGCGGATCTCCAAGTCCGACTTCTATGAGTATGACAGCCCGAAGTTGGAGTGTGGGTGGCACTCGGAGGACCCCAACCCGTGGGAGTGGCCAGAACCCCATCCCTCAACCTCACTCCTGGAAGAGCAGAAGGGAGCCCCCAGATCTGGCCTCCCAGCGCCGGTGTAGGACGGTTTTGAGGCCTTCCTCTTTCATCCCAAGTCTGTTCCTGCAGGATCATGCGCGCACAGCCCAGTGTGGTGCTGAGTGCGGCGCACACGGTGGCAGCCAGGATGTCGCCCTTCGTGCGCCAGATGGACTTCGCCATCGACTGGACTGCAGTGGAGGCGGGACGCGCGCTGTACAGGTGCAGCTCCCACCGCGCTGCTCAGGCCCGGCCTAGGGGTGGGGACCTGGGGGTGGTCAGACCTTGCTGACCTCCACGCCCACTCAGGCAGGGCGACCGCTCCGACTGCACTTACATCGTGCTCAATGGGCGGCTGCGTAGCGTGATCCAGCGAGGAGTGGCAAGAAGGAGCTGGTGGGCGAGTACGGCCGCGGCGACCTCATCGGCGTGGTGAGCGCGACCCCCACCCACTGACCTCTGGCCTTTTCCAGGCCAGTCCCTCGACAACTCACACACATCATCCCGGGTAATCCAGGGAGTGGTGAATGCAGCTCCCGACCTCTGAGGTCACCCAGTCCACTCCCCGCCCAGACCTCATTTCGTTGGAAAAAGGGGATTCCGCCTGTCGTGGATCCCTGTCCTCTCCCTCTCCCCAGAGCTCTAATGGGTAGCGAGCGAGGCTTGCTTCCCTACACCCCCATTGCAGGGGAGCCCTAGATGGGGCAGTACAGCCCCCTTTCCACCCATCTTCGGCCTCCTCATTCCCCACCCAAGCAGCCCCAATCATGCACGCGGCCCCCCAGGTGGAGGCACTGACCCGGCAGCCGCGAGCCACGACGGTGCACGCGGTGCGCGACACGGAGCTGGCCAAGCTTCCCGAGGGCACCTTGGGTCACATCAAACGCCGGTACCCGCAGGTGCGGCCTGTTGTGGGCGGGGCAGAGAGGCGGAGGCGGGACTCCGGGGGGGTGGGGGCCGGGCCTAGTGTGTGGGCGGGGCTTACAGAGGGGCGGGGTCGAGGGAGGGGCCGAAGCGAGAGAGTGAGGGCGGGGGCTCTCGGGGGTGGGACCCAGGTAACGGGCACCCAGGAGCCCCGGCATAGGAGGGAGAGGTGGGACCTGGACAGCCGCTTCCCAGGTCTCACTGAAATGCCGGCCTCCAACGCCCCCAGGTCGTGACCCGCCTTATCCACCTACTGAGCCAGAAAATTCTAGGGAATTTGCAGCAGCTGCAAGGACCCTTCCCAGGTGAGAGCCGGCCGGCCCAGAGCGTGCTGGGAGATGTAGTCCGGCGTCCAGAGCATGCTGGGAGGGAAGCCTTCTTTCCTGAGGGATGCTGGGAAATGGAGTTCCGCGAAGAAATCGTGCCCCTGAGGGTTTCAAACCCTAAGTAGGACCCAGGTGCAGAGCATTCTGGGGAATGGAGTTCGTGTTCCTGAGCATGCTGGGAAACGAAGTCCTCGACCCCTGGCGTGCTAGTTAATGGGCTCGAAAGTAAATCAGTGGTGCCGGGGAGGGAGTCTTAGGCGGTGGACTTGGCGTAGTCTGCCCGGGAGTCAGGGCTTGCTGGGGAAGTCCACGGCCTGGACGTTGAGAGAAAGGGAGTCCTAGATCAGAATATGATGGCAGGGCCGTCATGGTGGCTCATGCCTGTAATCTCAGCACTTTGGGAGGCTGAGGCAGGAGGATCGCTTGAGCCCAGGAGATTGAGTTTGAAACCAGCCTGGGCAACATAGTAGGACCCCCGTCTCTACAAAAATTTCAAACATTAGCTGGGCTTGGTGACACATGCCTGTAGTCTCAGCCACTCAGGAGGCTGAGGCGGGAGGATTGATTGCTTGAGCCCGGAGGTCGAGGCTGCAGTGAGCCGTGATCGTGCCACTGTACTCCAGCCGGGATGACAGAGCTAGAACCTGTTTCAGAAAAAATAAAACAGCAAACAAACAAAACTCCCCATACCATGATGGAAAATAGTCTGTGGATTGTTGTTTAGGACTCTGGGCACCTCGCCTTCTGAAGTTACAGCTTGCTGGGAGATGTAGCCCCCTGTTTCAGCCTGTGGCTTCAGTGAGCTAGAACAGAATGGGGCGTGCGGTGGGGTTGGAGGCCTGCTGAAATGAGGGCCTGAGTTTCTACATTGTGGTGGCCAGATTCTGGGCCAGCCCAGCAACCTAGATACCCCTTTTCCCTCCAGGGGTTCTACCCAATTGGCCCTGAGCCCTAGATCCCCCAAGGCGGGGGCAGGGCGGTAGTGGCAGAAAAGACATCATTAAGAAATTACAGAGGCCTGGGGCGGTGGGTCACGCCTGTAATCTCAGCACTTTGTGAGGCTGAGGCAGGTGAATCACTTGAGGTCAGGGGTTCGAGACCAGCCTGGCCAACGTGGTGAAACTCATCTCTACTAAAAGTACAAAAATTAGTCGGGTGTGGTGGTGGGTGCCTGN | pathogenic | 295,138 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 19, position 7554571, gene PNPLA6 (patatin like domain 6, lysophospholipase ). What disease(s) is it linked to if pathogenic? | pathogenic; ['Hereditary_spastic_paraplegia_39'] | AGGCAGGTGAATCACTTGAGGTCAGGGGTTCGAGACCAGCCTGGCCAACGTGGTGAAACTCATCTCTACTAAAAGTACAAAAATTAGTCGGGTGTGGTGGTGGGTGCCTGTAATCCCAGCTACTTGGACGGCTGAGGCAGGAGAATCGCTTGAACCGGGGAGGCAGAGGTTGCAGTGAGCCGAGCCTACGCCATTGCACTCCAGCCTGGGCAACCAGAGCAAAACTCCATCTCAAAAAAAAAAAAAGAAAGAAAAAAAAAAAGAAAAGAAAAGGAAAGAAATTACAGATAGAGAATACAATATCTAGAAGACAAAAGAGGGTCATCTTGCCGTGTGGCTGAAAGAGGGAGGGAGGAAGGGAGGGAGAAAGAGGCTTTTCTAAGGACAGTGAGCTGAGACTTGACAACTAAGATGGGGCCAGACATGAAAGAGAAACCAGGGGTGCTGCACAGGAGGCTGGTGGTTTTGAAGCACTGAGGAGGAAAGCGATCAAGGGGAGAGGTGATGGGGGTTGGGGGGTAAGTCACATAGGGGCTAGGGGCTGTGGACAGGCACTTGAGCTTATTTAGATTGTTATTGTTAGATTGGGGAGGAAGGATTCCACCAGTAAGGAGGCAACAAGAGGTCTAGGCAAGATATGGGAGTTGACAGCTGGTCTAGGCTGTTAGTGGAGAAACTGGGAAGCAACAGCTGGGTCAAAAGTAGCTTTTCTTTTCTTGTCTTTGTCTTTTCTTTTATTTTCTTTTTAAGACAGGGTCTCGCTCTGTAGCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGTATGCCACCATGCCTGGCTAATTGTTGTGTATTTTTAGTAGAGCAGTGTTTCTCCATGTTGGCTAGGCTAAAAATAGCTTTATTTCTGCCTCGTTTTATGTTCAGGTCCCCCATTAGACAGAGGAACCAAGGCCAGAATGAGGCAGGGGCACTGGCCAATTGATCTCCCAAGCACAGTGAATCTGAATGGTTGTAGAGTTGTGTAATGGATCCCACTGAGGTGATCAGGGCCCAAAGTGGAGGGTAGATGGCCAGGTTTTAACAAAAGAGGGAATAGTAGTTGAGGCTGAGGGTCCAGGACCAGAGCCATGGCTTTCTGTATGGTAGAGTCAAGACTTTGGGCAACTGGGGGCTGCAGTCTGGGAGCACAGGAGCAAGAATTTCAGATAAGGAGGAAGAGGAAGAAGAGGAGGAGGAGGGTTCATCTCTCTGGACACAGGTTCGCACCACAAATCTCATCCATTGGGTTCTTAGCAGGCTCTGGGTTGGGTGTGCCCCCACACTCGGAACTCACCAACCCAGCCAGCAACCTGGCAACTGTGGCAATCCTGCCTGTGTGTGCTGAGGTCCCCATGGTGGCCTTCACGCTGGAGCTGCAGCACGCCCTGCAGGCCATCGGTCAGTGGGGTGAGGGTCATGGGTGGGGGCTGGCGGTGGGTGGGACATTAGTGAGTGAGAGATGTTAGGGTAGGTCATTTGGGGGGTGGAGGGGAACAGGGCCACAGGGGCGGGGTAATGGGTATTCTTTTCTGAGTTAGGCCCCAGCCCTGTGGACCATGGTTCCCAGCCTCCCTTCCCCACCTACCCCTAGGTCCGACGCTACTCCTTAACAGTGACATCATCCGGGCACGCCTGGGGGCCTCCGCACTGGATAGGTGTGTGTTGCAGAAGGGAGTGGGGAGGGTGGTGGGTGGGCCTGGAGCCTCAAATTCTTTCAGACCTGAGTTCAAGTTCTTGGCTTCCAACCACGGAGCCTGCGTCTTACCCATAGGTCAATGGGGAGATTCGCAGTGGTGTGAATCTGCCCACCGGAGCACGGACTTCCGTGGTGGGGGTTTGGGTGTCTAAGTTCCTCCCAGCAACGGAGCTATGTGGTCTCGGGGAGCACACTGACCCCAGGCCAACCCCAGGATGACGCTGCCCCCTTCCCACCCTAGCATCCAAGAGTTCCGGCTGTCAGGGTGGCTGGCCCAGCAGGAGGATGCACACCGTATCGTACTCTACCAGACGGACGCCTCGCTGACGCCCTGGACCGTGCGCTGCCTGCGACAGGCCGACTGCATCCTCATTGTGGGCCTGGGGGACCAGGAGCCTACCCTCGGCCAGGTCGGAAGCCCGTGCCCCCTGATCTCACCCACCTCGGGTCCCGTCCTTTGCCCTCCCGTGCCTGCACCAGGCCACGTGCACCCTCGCCATGGGGGTAGGCGATCAGGGACCCAGGTGTGGCCAGGTGGTGGTGGGGCGGCTGGTGACCTCAGCCGTCCGTATTCCGCAGCTGGAGCAGATGCTGGAGAACACGGCTGTGCGCGCCCTTAAGCAGCTAGTCCTGCTCCACCGAGAGGAGGGCGCGGGCCCCACGCGCACCGTGGAGTGGCTAAATATGCGCAGCTGGTGCTCGGGGCACCTGCACCTGCGCTGTCCGCGCCGCCTCTTTTCGCGCCGCAGCCCTGCCAAGCTGGTGAGGAGCGGGCCGGCCCCCACCTTCTAGGGGCGTGGCTGGTGGGCGAGGCTTGGGAGACTGGGGCGGGGCCTGGGAGGGCTGAGGACAGGCTCGAAGGTCAGGGTACCCCTGGGGGATCCGCCGGACCCCGCCCTCATGCTCCTGGGTCGCGACTATCTCCCCCATCCCAGCATGAGCTCTACGAGAAGGTTTTCTCCAGGCGCGCGGACCGGCACAGCGACTTCTCCCGCTTGGCGAGGGTGCTCACGGGGAACACCATTGCCCTTGTGCTAGGCGGGGGCGGGGCCAGGTGAGGGCGGGGCTTGCTCTCTGGGGGCGGGGCCTGGATGTCCGAGGGTGGAGCTTCCTGGGAGAAACCGTGGGGGCGGGGCCTGGGTGTTCGAGGGTGGAGCTTCCCCTCCGGGAGAGACCCCGTGGGTAGGGGCGGGTCCTTTGTTCCTTAGCAGTGCGGGAGGTGGGAGGAGGTAGGGGCAGGGGAGTTCCTGCAGGTGGGGCCTAGCGGGTCACTGGGGCCCATTTTCCCGGCAGGGGCTGCTCGCACATCGGAGTACTAAAGGCATTAGAGGAGGCGGGGGTCCCCGTGGACCTGGTGGGCGGCACGTCCATTGGCTCTTTCATCGGAGCGTTGTACGCGGAGGAGCGCAGCGCCAGCCGCACGAAGCAGCGGGCCCGGGAGTGGGCCAAGGTGTGTGTTGCGAGGAGGGATTGCTGCACCCCAGGAGTGCCATAAAACCCGTGGTTCCAACCTAACCTGATCCCATGGGGGAGCCTCCGGGGTCAGGGTGACCCTTCCTGATTAAATCTATGATCCCCAGCTGTCCGGACTTTTATAGATAAGCTTCTAGGACTCTGGGTAACCACTTTGGGACCTCCTGTCTACTGACCCTAACCCATAACCCCCAACGAGAGCACCCAGGGCCCTTGGTGACCACCTTGTGGATGGCCTTGGATGACCACATCATCCCTAAGTGTTCCTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACTGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGTGATTTATCCGCCTCAGCCTCATGAGTAGCTGGGATTACAGGCACGCCCCACCAGCCCGGCAAATTTTTTTGTATTTTAGTAGAGATGGGGTTTCACCATGTTGGCTAGGCTGCTTTTGAACTCCTGGCCTCAAGTGATCTGCCCGCCTTGGCCTCCAAAGTGCTGGGATTACCAGTGTGAGCCGCTGCACCTGGCCCCTAAGTGCTGCTTGCTCACCCCCTATTGATGAACCTTATCTGTGACCCCATGTAACTCCTATTTGACCCTGTCTGGCCCCTTGTCCCTAGAGCATGACTTCGGTGCTGGAACCTGTGTTGGACCTCACGTACCCAGTCACCTCCATGTTCACTGGGTCTGCCTTTAACCGCAGCATCCATCGGGTCTTCCAGGATAAGCAGATTGAGGTAGGCCCACCTCATCCCCTGCCCTGCCTACCCCTCCCCGGAGGAGCCC | AGGCAGGTGAATCACTTGAGGTCAGGGGTTCGAGACCAGCCTGGCCAACGTGGTGAAACTCATCTCTACTAAAAGTACAAAAATTAGTCGGGTGTGGTGGTGGGTGCCTGTAATCCCAGCTACTTGGACGGCTGAGGCAGGAGAATCGCTTGAACCGGGGAGGCAGAGGTTGCAGTGAGCCGAGCCTACGCCATTGCACTCCAGCCTGGGCAACCAGAGCAAAACTCCATCTCAAAAAAAAAAAAAGAAAGAAAAAAAAAAAGAAAAGAAAAGGAAAGAAATTACAGATAGAGAATACAATATCTAGAAGACAAAAGAGGGTCATCTTGCCGTGTGGCTGAAAGAGGGAGGGAGGAAGGGAGGGAGAAAGAGGCTTTTCTAAGGACAGTGAGCTGAGACTTGACAACTAAGATGGGGCCAGACATGAAAGAGAAACCAGGGGTGCTGCACAGGAGGCTGGTGGTTTTGAAGCACTGAGGAGGAAAGCGATCAAGGGGAGAGGTGATGGGGGTTGGGGGGTAAGTCACATAGGGGCTAGGGGCTGTGGACAGGCACTTGAGCTTATTTAGATTGTTATTGTTAGATTGGGGAGGAAGGATTCCACCAGTAAGGAGGCAACAAGAGGTCTAGGCAAGATATGGGAGTTGACAGCTGGTCTAGGCTGTTAGTGGAGAAACTGGGAAGCAACAGCTGGGTCAAAAGTAGCTTTTCTTTTCTTGTCTTTGTCTTTTCTTTTATTTTCTTTTTAAGACAGGGTCTCGCTCTGTAGCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGTATGCCACCATGCCTGGCTAATTGTTGTGTATTTTTAGTAGAGCAGTGTTTCTCCATGTTGGCTAGGCTAAAAATAGCTTTATTTCTGCCTCGTTTTATGTTCAGGTCCCCCATTAGACAGAGGAACCAAGGCCAGAATGAGGCAGGGGCACTGGCCAATTGATCTCCCAAGCACAGTGAATCTGAATGGTTGTAGAGTTGTGTAATGGATCCCACTGAGGTGATCAGGGCCCAAAGTGGAGGGTAGATGGCCAGGTTTTAACAAAAGAGGGAATAGTAGTTGAGGCTGAGGGTCCAGGACCAGAGCCATGGCTTTCTGTATGGTAGAGTCAAGACTTTGGGCAACTGGGGGCTGCAGTCTGGGAGCACAGGAGCAAGAATTTCAGATAAGGAGGAAGAGGAAGAAGAGGAGGAGGAGGGTTCATCTCTCTGGACACAGGTTCGCACCACAAATCTCATCCATTGGGTTCTTAGCAGGCTCTGGGTTGGGTGTGCCCCCACACTCGGAACTCACCAACCCAGCCAGCAACCTGGCAACTGTGGCAATCCTGCCTGTGTGTGCTGAGGTCCCCATGGTGGCCTTCACGCTGGAGCTGCAGCACGCCCTGCAGGCCATCGGTCAGTGGGGTGAGGGTCATGGGTGGGGGCTGGCGGTGGGTGGGACATTAGTGAGTGAGAGATGTTAGGGTAGGTCATTTGGGGGGTGGAGGGGAACAGGGCCACAGGGGCGGGGTAATGGGTATTCTTTTCTGAGTTAGGCCCCAGCCCTGTGGACCATGGTTCCCAGCCTCCCTTCCCCACCTACCCCTAGGTCCGACGCTACTCCTTAACAGTGACATCATCCGGGCACGCCTGGGGGCCTCCGCACTGGATAGGTGTGTGTTGCAGAAGGGAGTGGGGAGGGTGGTGGGTGGGCCTGGAGCCTCAAATTCTTTCAGACCTGAGTTCAAGTTCTTGGCTTCCAACCACGGAGCCTGCGTCTTACCCATAGGTCAATGGGGAGATTCGCAGTGGTGTGAATCTGCCCACCGGAGCACGGACTTCCGTGGTGGGGGTTTGGGTGTCTAAGTTCCTCCCAGCAACGGAGCTATGTGGTCTCGGGGAGCACACTGACCCCAGGCCAACCCCAGGATGACGCTGCCCCCTTCCCACCCTAGCATCCAAGAGTTCCGGCGTCAGGGTGGCTGGCCCAGCAGGAGGATGCACACCGTATCGTACTCTACCAGACGGACGCCTCGCTGACGCCCTGGACCGTGCGCTGCCTGCGACAGGCCGACTGCATCCTCATTGTGGGCCTGGGGGACCAGGAGCCTACCCTCGGCCAGGTCGGAAGCCCGTGCCCCCTGATCTCACCCACCTCGGGTCCCGTCCTTTGCCCTCCCGTGCCTGCACCAGGCCACGTGCACCCTCGCCATGGGGGTAGGCGATCAGGGACCCAGGTGTGGCCAGGTGGTGGTGGGGCGGCTGGTGACCTCAGCCGTCCGTATTCCGCAGCTGGAGCAGATGCTGGAGAACACGGCTGTGCGCGCCCTTAAGCAGCTAGTCCTGCTCCACCGAGAGGAGGGCGCGGGCCCCACGCGCACCGTGGAGTGGCTAAATATGCGCAGCTGGTGCTCGGGGCACCTGCACCTGCGCTGTCCGCGCCGCCTCTTTTCGCGCCGCAGCCCTGCCAAGCTGGTGAGGAGCGGGCCGGCCCCCACCTTCTAGGGGCGTGGCTGGTGGGCGAGGCTTGGGAGACTGGGGCGGGGCCTGGGAGGGCTGAGGACAGGCTCGAAGGTCAGGGTACCCCTGGGGGATCCGCCGGACCCCGCCCTCATGCTCCTGGGTCGCGACTATCTCCCCCATCCCAGCATGAGCTCTACGAGAAGGTTTTCTCCAGGCGCGCGGACCGGCACAGCGACTTCTCCCGCTTGGCGAGGGTGCTCACGGGGAACACCATTGCCCTTGTGCTAGGCGGGGGCGGGGCCAGGTGAGGGCGGGGCTTGCTCTCTGGGGGCGGGGCCTGGATGTCCGAGGGTGGAGCTTCCTGGGAGAAACCGTGGGGGCGGGGCCTGGGTGTTCGAGGGTGGAGCTTCCCCTCCGGGAGAGACCCCGTGGGTAGGGGCGGGTCCTTTGTTCCTTAGCAGTGCGGGAGGTGGGAGGAGGTAGGGGCAGGGGAGTTCCTGCAGGTGGGGCCTAGCGGGTCACTGGGGCCCATTTTCCCGGCAGGGGCTGCTCGCACATCGGAGTACTAAAGGCATTAGAGGAGGCGGGGGTCCCCGTGGACCTGGTGGGCGGCACGTCCATTGGCTCTTTCATCGGAGCGTTGTACGCGGAGGAGCGCAGCGCCAGCCGCACGAAGCAGCGGGCCCGGGAGTGGGCCAAGGTGTGTGTTGCGAGGAGGGATTGCTGCACCCCAGGAGTGCCATAAAACCCGTGGTTCCAACCTAACCTGATCCCATGGGGGAGCCTCCGGGGTCAGGGTGACCCTTCCTGATTAAATCTATGATCCCCAGCTGTCCGGACTTTTATAGATAAGCTTCTAGGACTCTGGGTAACCACTTTGGGACCTCCTGTCTACTGACCCTAACCCATAACCCCCAACGAGAGCACCCAGGGCCCTTGGTGACCACCTTGTGGATGGCCTTGGATGACCACATCATCCCTAAGTGTTCCTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACTGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGTGATTTATCCGCCTCAGCCTCATGAGTAGCTGGGATTACAGGCACGCCCCACCAGCCCGGCAAATTTTTTTGTATTTTAGTAGAGATGGGGTTTCACCATGTTGGCTAGGCTGCTTTTGAACTCCTGGCCTCAAGTGATCTGCCCGCCTTGGCCTCCAAAGTGCTGGGATTACCAGTGTGAGCCGCTGCACCTGGCCCCTAAGTGCTGCTTGCTCACCCCCTATTGATGAACCTTATCTGTGACCCCATGTAACTCCTATTTGACCCTGTCTGGCCCCTTGTCCCTAGAGCATGACTTCGGTGCTGGAACCTGTGTTGGACCTCACGTACCCAGTCACCTCCATGTTCACTGGGTCTGCCTTTAACCGCAGCATCCATCGGGTCTTCCAGGATAAGCAGATTGAGGTAGGCCCACCTCATCCCCTGCCCTGCCTACCCCTCCCCGGAGGAGCCCN | pathogenic | 295,160 |
Chromosome 19, position 7555724, gene PNPLA6 (patatin like domain 6, lysophospholipase ): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Ataxia-hypogonadism-choroidal_dystrophy_syndrome', 'Hereditary_spastic_paraplegia', 'Hereditary_spastic_paraplegia_39', 'Inborn_genetic_diseases', 'Laurence-Moon_syndrome', 'PNPLA6-related_disorder', 'Retinal_dystrophy', 'Trichomegaly-retina_pigmentary_degeneration-dwarfism_syndrome'] | AGTTGAGGCTGAGGGTCCAGGACCAGAGCCATGGCTTTCTGTATGGTAGAGTCAAGACTTTGGGCAACTGGGGGCTGCAGTCTGGGAGCACAGGAGCAAGAATTTCAGATAAGGAGGAAGAGGAAGAAGAGGAGGAGGAGGGTTCATCTCTCTGGACACAGGTTCGCACCACAAATCTCATCCATTGGGTTCTTAGCAGGCTCTGGGTTGGGTGTGCCCCCACACTCGGAACTCACCAACCCAGCCAGCAACCTGGCAACTGTGGCAATCCTGCCTGTGTGTGCTGAGGTCCCCATGGTGGCCTTCACGCTGGAGCTGCAGCACGCCCTGCAGGCCATCGGTCAGTGGGGTGAGGGTCATGGGTGGGGGCTGGCGGTGGGTGGGACATTAGTGAGTGAGAGATGTTAGGGTAGGTCATTTGGGGGGTGGAGGGGAACAGGGCCACAGGGGCGGGGTAATGGGTATTCTTTTCTGAGTTAGGCCCCAGCCCTGTGGACCATGGTTCCCAGCCTCCCTTCCCCACCTACCCCTAGGTCCGACGCTACTCCTTAACAGTGACATCATCCGGGCACGCCTGGGGGCCTCCGCACTGGATAGGTGTGTGTTGCAGAAGGGAGTGGGGAGGGTGGTGGGTGGGCCTGGAGCCTCAAATTCTTTCAGACCTGAGTTCAAGTTCTTGGCTTCCAACCACGGAGCCTGCGTCTTACCCATAGGTCAATGGGGAGATTCGCAGTGGTGTGAATCTGCCCACCGGAGCACGGACTTCCGTGGTGGGGGTTTGGGTGTCTAAGTTCCTCCCAGCAACGGAGCTATGTGGTCTCGGGGAGCACACTGACCCCAGGCCAACCCCAGGATGACGCTGCCCCCTTCCCACCCTAGCATCCAAGAGTTCCGGCTGTCAGGGTGGCTGGCCCAGCAGGAGGATGCACACCGTATCGTACTCTACCAGACGGACGCCTCGCTGACGCCCTGGACCGTGCGCTGCCTGCGACAGGCCGACTGCATCCTCATTGTGGGCCTGGGGGACCAGGAGCCTACCCTCGGCCAGGTCGGAAGCCCGTGCCCCCTGATCTCACCCACCTCGGGTCCCGTCCTTTGCCCTCCCGTGCCTGCACCAGGCCACGTGCACCCTCGCCATGGGGGTAGGCGATCAGGGACCCAGGTGTGGCCAGGTGGTGGTGGGGCGGCTGGTGACCTCAGCCGTCCGTATTCCGCAGCTGGAGCAGATGCTGGAGAACACGGCTGTGCGCGCCCTTAAGCAGCTAGTCCTGCTCCACCGAGAGGAGGGCGCGGGCCCCACGCGCACCGTGGAGTGGCTAAATATGCGCAGCTGGTGCTCGGGGCACCTGCACCTGCGCTGTCCGCGCCGCCTCTTTTCGCGCCGCAGCCCTGCCAAGCTGGTGAGGAGCGGGCCGGCCCCCACCTTCTAGGGGCGTGGCTGGTGGGCGAGGCTTGGGAGACTGGGGCGGGGCCTGGGAGGGCTGAGGACAGGCTCGAAGGTCAGGGTACCCCTGGGGGATCCGCCGGACCCCGCCCTCATGCTCCTGGGTCGCGACTATCTCCCCCATCCCAGCATGAGCTCTACGAGAAGGTTTTCTCCAGGCGCGCGGACCGGCACAGCGACTTCTCCCGCTTGGCGAGGGTGCTCACGGGGAACACCATTGCCCTTGTGCTAGGCGGGGGCGGGGCCAGGTGAGGGCGGGGCTTGCTCTCTGGGGGCGGGGCCTGGATGTCCGAGGGTGGAGCTTCCTGGGAGAAACCGTGGGGGCGGGGCCTGGGTGTTCGAGGGTGGAGCTTCCCCTCCGGGAGAGACCCCGTGGGTAGGGGCGGGTCCTTTGTTCCTTAGCAGTGCGGGAGGTGGGAGGAGGTAGGGGCAGGGGAGTTCCTGCAGGTGGGGCCTAGCGGGTCACTGGGGCCCATTTTCCCGGCAGGGGCTGCTCGCACATCGGAGTACTAAAGGCATTAGAGGAGGCGGGGGTCCCCGTGGACCTGGTGGGCGGCACGTCCATTGGCTCTTTCATCGGAGCGTTGTACGCGGAGGAGCGCAGCGCCAGCCGCACGAAGCAGCGGGCCCGGGAGTGGGCCAAGGTGTGTGTTGCGAGGAGGGATTGCTGCACCCCAGGAGTGCCATAAAACCCGTGGTTCCAACCTAACCTGATCCCATGGGGGAGCCTCCGGGGTCAGGGTGACCCTTCCTGATTAAATCTATGATCCCCAGCTGTCCGGACTTTTATAGATAAGCTTCTAGGACTCTGGGTAACCACTTTGGGACCTCCTGTCTACTGACCCTAACCCATAACCCCCAACGAGAGCACCCAGGGCCCTTGGTGACCACCTTGTGGATGGCCTTGGATGACCACATCATCCCTAAGTGTTCCTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACTGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGTGATTTATCCGCCTCAGCCTCATGAGTAGCTGGGATTACAGGCACGCCCCACCAGCCCGGCAAATTTTTTTGTATTTTAGTAGAGATGGGGTTTCACCATGTTGGCTAGGCTGCTTTTGAACTCCTGGCCTCAAGTGATCTGCCCGCCTTGGCCTCCAAAGTGCTGGGATTACCAGTGTGAGCCGCTGCACCTGGCCCCTAAGTGCTGCTTGCTCACCCCCTATTGATGAACCTTATCTGTGACCCCATGTAACTCCTATTTGACCCTGTCTGGCCCCTTGTCCCTAGAGCATGACTTCGGTGCTGGAACCTGTGTTGGACCTCACGTACCCAGTCACCTCCATGTTCACTGGGTCTGCCTTTAACCGCAGCATCCATCGGGTCTTCCAGGATAAGCAGATTGAGGTAGGCCCACCTCATCCCCTGCCCTGCCTACCCCTCCCCGGAGGAGCCCCCTGCTCCTCCCCCACCTCGATCCCTGTCCCCGCAGGACCTGTGGCTGCCTTACTTCAACGTGACCACAGATATCACCGCCTCAGCCATGCGAGTCCACAAAGATGGTGGGTGTCCCCGCCCAGCCTGCAGCAACCGCTGACGCCACGTGGGGTTGGGGGGATGCTTCCGGGAGGGCCGCTGAGCTTCTGGGACGTTGTTAACACGAGTGACCGTCCACCCTGGCCCGATCACCGACCACTAACCGCCACCCACTAATGCCCCGGAGACCCCAGGTACGTCCGTCCTTGGGGGAGGGGAGCAGGGAGACTCGTCGGACGCCTTACCCCCCTCACGCCATCCCCGCAGGCTGTGTGTGGCGTTACGTCCGGGCCAGCGCCTCCTACTGCCCCTACCTGCCCCCACTGTGCGACCCCAAGGACGGGCACCTGCTGGTGGACGGGTGCTACGTTAACAACGTCCCAGGTCAGCGAGCCCATCGGGCCGGCTGGGCCTCCGGCGTGTCTGAGCGTGTCTGTGCGTGTTTGTGTCTGTGTGTCCCACCGCGCAGGCTCCCTGTGGCGGTACGTGCGCGCCAGCATGACGCTGTCGGGCTACCTGCCCCCGCTGTGCGACCCCAAGGACGGGCACCTACTCATGGATGGCGGCTACATCAACAATCTGCCAGGCAAGTGGCCGCCCGCACCACCCGCACACGCAAGCACCTCCCGCACCACACACACGCACACGCGTGGGCACACACAGACAGGCTCGATGACGGGACACATGCCCAAGCTGCCCATGCAGGGGTGCAGACACACATGCGCACACATACGATCACTTGCACAAAATGATACATGAATGTGCCTGTGGACAGCGACATGTGCAGTTGAGATCTACATTCTGGCCAGGCGCGGTGGCTCAGCCTGGAATCCCAGCACTTTGGGAGGCCTGAGGTGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCCGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAACCAGGCTGGTGGGGTGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGATAAATCACTTGAACCTGGGAGTTGGAGGTTGCAGTGAGCTGAGATCATGCTACTGCACTCCAGCCTGGGCGACAGAGCA | AGTTGAGGCTGAGGGTCCAGGACCAGAGCCATGGCTTTCTGTATGGTAGAGTCAAGACTTTGGGCAACTGGGGGCTGCAGTCTGGGAGCACAGGAGCAAGAATTTCAGATAAGGAGGAAGAGGAAGAAGAGGAGGAGGAGGGTTCATCTCTCTGGACACAGGTTCGCACCACAAATCTCATCCATTGGGTTCTTAGCAGGCTCTGGGTTGGGTGTGCCCCCACACTCGGAACTCACCAACCCAGCCAGCAACCTGGCAACTGTGGCAATCCTGCCTGTGTGTGCTGAGGTCCCCATGGTGGCCTTCACGCTGGAGCTGCAGCACGCCCTGCAGGCCATCGGTCAGTGGGGTGAGGGTCATGGGTGGGGGCTGGCGGTGGGTGGGACATTAGTGAGTGAGAGATGTTAGGGTAGGTCATTTGGGGGGTGGAGGGGAACAGGGCCACAGGGGCGGGGTAATGGGTATTCTTTTCTGAGTTAGGCCCCAGCCCTGTGGACCATGGTTCCCAGCCTCCCTTCCCCACCTACCCCTAGGTCCGACGCTACTCCTTAACAGTGACATCATCCGGGCACGCCTGGGGGCCTCCGCACTGGATAGGTGTGTGTTGCAGAAGGGAGTGGGGAGGGTGGTGGGTGGGCCTGGAGCCTCAAATTCTTTCAGACCTGAGTTCAAGTTCTTGGCTTCCAACCACGGAGCCTGCGTCTTACCCATAGGTCAATGGGGAGATTCGCAGTGGTGTGAATCTGCCCACCGGAGCACGGACTTCCGTGGTGGGGGTTTGGGTGTCTAAGTTCCTCCCAGCAACGGAGCTATGTGGTCTCGGGGAGCACACTGACCCCAGGCCAACCCCAGGATGACGCTGCCCCCTTCCCACCCTAGCATCCAAGAGTTCCGGCTGTCAGGGTGGCTGGCCCAGCAGGAGGATGCACACCGTATCGTACTCTACCAGACGGACGCCTCGCTGACGCCCTGGACCGTGCGCTGCCTGCGACAGGCCGACTGCATCCTCATTGTGGGCCTGGGGGACCAGGAGCCTACCCTCGGCCAGGTCGGAAGCCCGTGCCCCCTGATCTCACCCACCTCGGGTCCCGTCCTTTGCCCTCCCGTGCCTGCACCAGGCCACGTGCACCCTCGCCATGGGGGTAGGCGATCAGGGACCCAGGTGTGGCCAGGTGGTGGTGGGGCGGCTGGTGACCTCAGCCGTCCGTATTCCGCAGCTGGAGCAGATGCTGGAGAACACGGCTGTGCGCGCCCTTAAGCAGCTAGTCCTGCTCCACCGAGAGGAGGGCGCGGGCCCCACGCGCACCGTGGAGTGGCTAAATATGCGCAGCTGGTGCTCGGGGCACCTGCACCTGCGCTGTCCGCGCCGCCTCTTTTCGCGCCGCAGCCCTGCCAAGCTGGTGAGGAGCGGGCCGGCCCCCACCTTCTAGGGGCGTGGCTGGTGGGCGAGGCTTGGGAGACTGGGGCGGGGCCTGGGAGGGCTGAGGACAGGCTCGAAGGTCAGGGTACCCCTGGGGGATCCGCCGGACCCCGCCCTCATGCTCCTGGGTCGCGACTATCTCCCCCATCCCAGCATGAGCTCTACGAGAAGGTTTTCTCCAGGCGCGCGGACCGGCACAGCGACTTCTCCCGCTTGGCGAGGGTGCTCACGGGGAACACCATTGCCCTTGTGCTAGGCGGGGGCGGGGCCAGGTGAGGGCGGGGCTTGCTCTCTGGGGGCGGGGCCTGGATGTCCGAGGGTGGAGCTTCCTGGGAGAAACCGTGGGGGCGGGGCCTGGGTGTTCGAGGGTGGAGCTTCCCCTCCGGGAGAGACCCCGTGGGTAGGGGCGGGTCCTTTGTTCCTTAGCAGTGCGGGAGGTGGGAGGAGGTAGGGGCAGGGGAGTTCCTGCAGGTGGGGCCTAGCGGGTCACTGGGGCCCATTTTCCCGGCAGGGGCTGCTCGCACATCGGAGTACTAAAGGCATTAGAGGAGGCGGGGGTCCCCGTGGACCTGGTGGGCGGCACGTCCATTGGCTCTTTCATCGGAGCGTTGTACGCGGAGGAGCGCAGCGCCAGCCAGCCGCACGAAGCAGCGGGCCCGGGAGTGGGCCAAGGTGTGTGTTGCGAGGAGGGATTGCTGCACCCCAGGAGTGCCATAAAACCCGTGGTTCCAACCTAACCTGATCCCATGGGGGAGCCTCCGGGGTCAGGGTGACCCTTCCTGATTAAATCTATGATCCCCAGCTGTCCGGACTTTTATAGATAAGCTTCTAGGACTCTGGGTAACCACTTTGGGACCTCCTGTCTACTGACCCTAACCCATAACCCCCAACGAGAGCACCCAGGGCCCTTGGTGACCACCTTGTGGATGGCCTTGGATGACCACATCATCCCTAAGTGTTCCTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACTGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGTGATTTATCCGCCTCAGCCTCATGAGTAGCTGGGATTACAGGCACGCCCCACCAGCCCGGCAAATTTTTTTGTATTTTAGTAGAGATGGGGTTTCACCATGTTGGCTAGGCTGCTTTTGAACTCCTGGCCTCAAGTGATCTGCCCGCCTTGGCCTCCAAAGTGCTGGGATTACCAGTGTGAGCCGCTGCACCTGGCCCCTAAGTGCTGCTTGCTCACCCCCTATTGATGAACCTTATCTGTGACCCCATGTAACTCCTATTTGACCCTGTCTGGCCCCTTGTCCCTAGAGCATGACTTCGGTGCTGGAACCTGTGTTGGACCTCACGTACCCAGTCACCTCCATGTTCACTGGGTCTGCCTTTAACCGCAGCATCCATCGGGTCTTCCAGGATAAGCAGATTGAGGTAGGCCCACCTCATCCCCTGCCCTGCCTACCCCTCCCCGGAGGAGCCCCCTGCTCCTCCCCCACCTCGATCCCTGTCCCCGCAGGACCTGTGGCTGCCTTACTTCAACGTGACCACAGATATCACCGCCTCAGCCATGCGAGTCCACAAAGATGGTGGGTGTCCCCGCCCAGCCTGCAGCAACCGCTGACGCCACGTGGGGTTGGGGGGATGCTTCCGGGAGGGCCGCTGAGCTTCTGGGACGTTGTTAACACGAGTGACCGTCCACCCTGGCCCGATCACCGACCACTAACCGCCACCCACTAATGCCCCGGAGACCCCAGGTACGTCCGTCCTTGGGGGAGGGGAGCAGGGAGACTCGTCGGACGCCTTACCCCCCTCACGCCATCCCCGCAGGCTGTGTGTGGCGTTACGTCCGGGCCAGCGCCTCCTACTGCCCCTACCTGCCCCCACTGTGCGACCCCAAGGACGGGCACCTGCTGGTGGACGGGTGCTACGTTAACAACGTCCCAGGTCAGCGAGCCCATCGGGCCGGCTGGGCCTCCGGCGTGTCTGAGCGTGTCTGTGCGTGTTTGTGTCTGTGTGTCCCACCGCGCAGGCTCCCTGTGGCGGTACGTGCGCGCCAGCATGACGCTGTCGGGCTACCTGCCCCCGCTGTGCGACCCCAAGGACGGGCACCTACTCATGGATGGCGGCTACATCAACAATCTGCCAGGCAAGTGGCCGCCCGCACCACCCGCACACGCAAGCACCTCCCGCACCACACACACGCACACGCGTGGGCACACACAGACAGGCTCGATGACGGGACACATGCCCAAGCTGCCCATGCAGGGGTGCAGACACACATGCGCACACATACGATCACTTGCACAAAATGATACATGAATGTGCCTGTGGACAGCGACATGTGCAGTTGAGATCTACATTCTGGCCAGGCGCGGTGGCTCAGCCTGGAATCCCAGCACTTTGGGAGGCCTGAGGTGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCCGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAACCAGGCTGGTGGGGTGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGATAAATCACTTGAACCTGGGAGTTGGAGGTTGCAGTGAGCTGAGATCATGCTACTGCACTCCAGCCTGGGCGACAG | pathogenic | 295,173 |
The chromosome 19, position 7557246 genetic variant in gene PNPLA6 (patatin like domain 6, lysophospholipase ): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Hereditary_spastic_paraplegia_39'] | GCCGGACCCCGCCCTCATGCTCCTGGGTCGCGACTATCTCCCCCATCCCAGCATGAGCTCTACGAGAAGGTTTTCTCCAGGCGCGCGGACCGGCACAGCGACTTCTCCCGCTTGGCGAGGGTGCTCACGGGGAACACCATTGCCCTTGTGCTAGGCGGGGGCGGGGCCAGGTGAGGGCGGGGCTTGCTCTCTGGGGGCGGGGCCTGGATGTCCGAGGGTGGAGCTTCCTGGGAGAAACCGTGGGGGCGGGGCCTGGGTGTTCGAGGGTGGAGCTTCCCCTCCGGGAGAGACCCCGTGGGTAGGGGCGGGTCCTTTGTTCCTTAGCAGTGCGGGAGGTGGGAGGAGGTAGGGGCAGGGGAGTTCCTGCAGGTGGGGCCTAGCGGGTCACTGGGGCCCATTTTCCCGGCAGGGGCTGCTCGCACATCGGAGTACTAAAGGCATTAGAGGAGGCGGGGGTCCCCGTGGACCTGGTGGGCGGCACGTCCATTGGCTCTTTCATCGGAGCGTTGTACGCGGAGGAGCGCAGCGCCAGCCGCACGAAGCAGCGGGCCCGGGAGTGGGCCAAGGTGTGTGTTGCGAGGAGGGATTGCTGCACCCCAGGAGTGCCATAAAACCCGTGGTTCCAACCTAACCTGATCCCATGGGGGAGCCTCCGGGGTCAGGGTGACCCTTCCTGATTAAATCTATGATCCCCAGCTGTCCGGACTTTTATAGATAAGCTTCTAGGACTCTGGGTAACCACTTTGGGACCTCCTGTCTACTGACCCTAACCCATAACCCCCAACGAGAGCACCCAGGGCCCTTGGTGACCACCTTGTGGATGGCCTTGGATGACCACATCATCCCTAAGTGTTCCTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACTGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGTGATTTATCCGCCTCAGCCTCATGAGTAGCTGGGATTACAGGCACGCCCCACCAGCCCGGCAAATTTTTTTGTATTTTAGTAGAGATGGGGTTTCACCATGTTGGCTAGGCTGCTTTTGAACTCCTGGCCTCAAGTGATCTGCCCGCCTTGGCCTCCAAAGTGCTGGGATTACCAGTGTGAGCCGCTGCACCTGGCCCCTAAGTGCTGCTTGCTCACCCCCTATTGATGAACCTTATCTGTGACCCCATGTAACTCCTATTTGACCCTGTCTGGCCCCTTGTCCCTAGAGCATGACTTCGGTGCTGGAACCTGTGTTGGACCTCACGTACCCAGTCACCTCCATGTTCACTGGGTCTGCCTTTAACCGCAGCATCCATCGGGTCTTCCAGGATAAGCAGATTGAGGTAGGCCCACCTCATCCCCTGCCCTGCCTACCCCTCCCCGGAGGAGCCCCCTGCTCCTCCCCCACCTCGATCCCTGTCCCCGCAGGACCTGTGGCTGCCTTACTTCAACGTGACCACAGATATCACCGCCTCAGCCATGCGAGTCCACAAAGATGGTGGGTGTCCCCGCCCAGCCTGCAGCAACCGCTGACGCCACGTGGGGTTGGGGGGATGCTTCCGGGAGGGCCGCTGAGCTTCTGGGACGTTGTTAACACGAGTGACCGTCCACCCTGGCCCGATCACCGACCACTAACCGCCACCCACTAATGCCCCGGAGACCCCAGGTACGTCCGTCCTTGGGGGAGGGGAGCAGGGAGACTCGTCGGACGCCTTACCCCCCTCACGCCATCCCCGCAGGCTGTGTGTGGCGTTACGTCCGGGCCAGCGCCTCCTACTGCCCCTACCTGCCCCCACTGTGCGACCCCAAGGACGGGCACCTGCTGGTGGACGGGTGCTACGTTAACAACGTCCCAGGTCAGCGAGCCCATCGGGCCGGCTGGGCCTCCGGCGTGTCTGAGCGTGTCTGTGCGTGTTTGTGTCTGTGTGTCCCACCGCGCAGGCTCCCTGTGGCGGTACGTGCGCGCCAGCATGACGCTGTCGGGCTACCTGCCCCCGCTGTGCGACCCCAAGGACGGGCACCTACTCATGGATGGCGGCTACATCAACAATCTGCCAGGCAAGTGGCCGCCCGCACCACCCGCACACGCAAGCACCTCCCGCACCACACACACGCACACGCGTGGGCACACACAGACAGGCTCGATGACGGGACACATGCCCAAGCTGCCCATGCAGGGGTGCAGACACACATGCGCACACATACGATCACTTGCACAAAATGATACATGAATGTGCCTGTGGACAGCGACATGTGCAGTTGAGATCTACATTCTGGCCAGGCGCGGTGGCTCAGCCTGGAATCCCAGCACTTTGGGAGGCCTGAGGTGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCCGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAACCAGGCTGGTGGGGTGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGATAAATCACTTGAACCTGGGAGTTGGAGGTTGCAGTGAGCTGAGATCATGCTACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCAGTCTCAAAAAAAAAAAAAAAGAAAGAAAGAAATCTACATCTACCTGCTGGCGTGCTGTGTTAAGCACAAGTGGATGTACGTACAAGAGGGACAGGTGCACACGTCCACACACACATCAGGGGACATGCAGGTGGAATGCAACACTCGTGTGCACACCAGCTATATATGCACATGCTTTCTCTCAGGGGCAGGTAGGGCTTACACACACGTGTACACACAGGCACATGTGCACAGATGAACACGTGTGTCAGTGAAATAGGGCATTTGCCAACGCATGCCAGTCTGTCCCGTTTGTCCTGCACGTTCCCTCAAACACGCAGGGATGTGCACACACGTAGATAGGATGCGGCACCTCTGACCGAGTTAAGTCATGCCTACCACCTTTATGGGTGCAGGTGAGAAGCGGGCAGGTACACAACTTAAAATCTCACACCCCAGAAGTGTGCATATATGAACAGACATGTACGCCAACTGCACACATGCTCACAATCTTGTAGGCCAGGGGTGGGCAAACTATGGCCCACAGGCTGAGTCCTGCCCTCTGTTTGATTGTATAAATAAAGCTTTATTGAGCTGGGCACAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAATTCGAGGCCAGCCTGGCCAACATGGTGAAACCCGGTTTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGTGTATGCCTCTAATCCCAGCTACTTGAGAGGCTGAGGCAAGAGAGTTGCTTGAACCCGGGAGGTGGAGGTTGCATCGAGCCCAGATCGTGCCATTGCACTCCAGCCTGGGCGACAGAGTGAGACTCTGTCTCAGAAAATAAAACAAAACCTCCCAACACCTGACCCCCCTCCTCAACTTCAGTTGCATCATTTGCACGTCTGTGCATGACAGCATGGTGTTTGCATGTGTGGGTATTCTCTCTTTTTTTTTTGCGTGATCATTTGCATGATGGCATCTGTGGGACTGGGTTGAACATCTCTGCCCCGGGCCCCCGAGGGGAGCAGCCCGCTGACCCCCCTGGCCCCACAGCGGACATCGCCCGCAGCATGGGTGCCAAAACGGTCATCGCCATTGACGTGGGGAGCCAGGATGAGACGGACCTCAGCACCTACGGGGACAGCCTGTCCGGCTGGTGGCTGCTGTGGAAGCGGCTGAATCCCTGGGCTGACAAGGTAAAGGTTCCAGACATGGCTGAAATCCAGTCCCGCCTGGCCTACGTGTCCTGTGTGCGGCAGCTAGAGGTTGTCAAGTCCAGCTCCTACTGCGAGTACCTGCGCCCGCCCATCGACTGCTTCAAGACCATGGACTTTGGGAAGTTCGACCAGATCTATGTGAGTGGGCAGGAGTGGCATGGTGCCTGCATAGGTGGTCCGGCTAAGCTTTGCTACTTAAAGCCCAGAGTGGTATGAGGGGGAGGAATCCAGGAGGAATCCAGGAATCCCATCTGGAATCTCTGGAAAACAGATCAGTGAT | GCCGGACCCCGCCCTCATGCTCCTGGGTCGCGACTATCTCCCCCATCCCAGCATGAGCTCTACGAGAAGGTTTTCTCCAGGCGCGCGGACCGGCACAGCGACTTCTCCCGCTTGGCGAGGGTGCTCACGGGGAACACCATTGCCCTTGTGCTAGGCGGGGGCGGGGCCAGGTGAGGGCGGGGCTTGCTCTCTGGGGGCGGGGCCTGGATGTCCGAGGGTGGAGCTTCCTGGGAGAAACCGTGGGGGCGGGGCCTGGGTGTTCGAGGGTGGAGCTTCCCCTCCGGGAGAGACCCCGTGGGTAGGGGCGGGTCCTTTGTTCCTTAGCAGTGCGGGAGGTGGGAGGAGGTAGGGGCAGGGGAGTTCCTGCAGGTGGGGCCTAGCGGGTCACTGGGGCCCATTTTCCCGGCAGGGGCTGCTCGCACATCGGAGTACTAAAGGCATTAGAGGAGGCGGGGGTCCCCGTGGACCTGGTGGGCGGCACGTCCATTGGCTCTTTCATCGGAGCGTTGTACGCGGAGGAGCGCAGCGCCAGCCGCACGAAGCAGCGGGCCCGGGAGTGGGCCAAGGTGTGTGTTGCGAGGAGGGATTGCTGCACCCCAGGAGTGCCATAAAACCCGTGGTTCCAACCTAACCTGATCCCATGGGGGAGCCTCCGGGGTCAGGGTGACCCTTCCTGATTAAATCTATGATCCCCAGCTGTCCGGACTTTTATAGATAAGCTTCTAGGACTCTGGGTAACCACTTTGGGACCTCCTGTCTACTGACCCTAACCCATAACCCCCAACGAGAGCACCCAGGGCCCTTGGTGACCACCTTGTGGATGGCCTTGGATGACCACATCATCCCTAAGTGTTCCTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACTGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGTGATTTATCCGCCTCAGCCTCATGAGTAGCTGGGATTACAGGCACGCCCCACCAGCCCGGCAAATTTTTTTGTATTTTAGTAGAGATGGGGTTTCACCATGTTGGCTAGGCTGCTTTTGAACTCCTGGCCTCAAGTGATCTGCCCGCCTTGGCCTCCAAAGTGCTGGGATTACCAGTGTGAGCCGCTGCACCTGGCCCCTAAGTGCTGCTTGCTCACCCCCTATTGATGAACCTTATCTGTGACCCCATGTAACTCCTATTTGACCCTGTCTGGCCCCTTGTCCCTAGAGCATGACTTCGGTGCTGGAACCTGTGTTGGACCTCACGTACCCAGTCACCTCCATGTTCACTGGGTCTGCCTTTAACCGCAGCATCCATCGGGTCTTCCAGGATAAGCAGATTGAGGTAGGCCCACCTCATCCCCTGCCCTGCCTACCCCTCCCCGGAGGAGCCCCCTGCTCCTCCCCCACCTCGATCCCTGTCCCCGCAGGACCTGTGGCTGCCTTACTTCAACGTGACCACAGATATCACCGCCTCAGCCATGCGAGTCCACAAAGATGGTGGGTGTCCCCGCCCAGCCTGCAGCAACCGCTGACGCCACGTGGGGTTGGGGGGATGCTTCCGGGAGGGCCGCTGAGCTTCTGGGACGTTGTTAACACGAGTGACCGTCCACCCTGGCCCGATCACCGACCACTAACCGCCACCCACTAATGCCCCGGAGACCCCAGGTACGTCCGTCCTTGGGGGAGGGGAGCAGGGAGACTCGTCGGACGCCTTACCCCCCTCACGCCATCCCCGCAGGCTGTGTGTGGCGTTACGTCCGGGCCAGCGCCTCCTACTGCCCCTACCTGCCCCCACTGTGCGACCCCAAGGACGGGCACCTGCTGGTGGACGGGTGCTACGTTAACAACGTCCCAGGTCAGCGAGCCCATCGGGCCGGCTGGGCCTCCGGCGTGTCTGAGCGTGTCTGTGCGTGTTTGTGTCTGTGTGTCCCACCGCGCAGGCTCCCTGTGGCGGTACGTGCGCGCCAGCATGACGCTGTCGGGCTACCTGCCCCCGCTGTGCGACCCCAAGGACGGGCACTACTCATGGATGGCGGCTACATCAACAATCTGCCAGGCAAGTGGCCGCCCGCACCACCCGCACACGCAAGCACCTCCCGCACCACACACACGCACACGCGTGGGCACACACAGACAGGCTCGATGACGGGACACATGCCCAAGCTGCCCATGCAGGGGTGCAGACACACATGCGCACACATACGATCACTTGCACAAAATGATACATGAATGTGCCTGTGGACAGCGACATGTGCAGTTGAGATCTACATTCTGGCCAGGCGCGGTGGCTCAGCCTGGAATCCCAGCACTTTGGGAGGCCTGAGGTGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCCGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAACCAGGCTGGTGGGGTGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGATAAATCACTTGAACCTGGGAGTTGGAGGTTGCAGTGAGCTGAGATCATGCTACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCAGTCTCAAAAAAAAAAAAAAAGAAAGAAAGAAATCTACATCTACCTGCTGGCGTGCTGTGTTAAGCACAAGTGGATGTACGTACAAGAGGGACAGGTGCACACGTCCACACACACATCAGGGGACATGCAGGTGGAATGCAACACTCGTGTGCACACCAGCTATATATGCACATGCTTTCTCTCAGGGGCAGGTAGGGCTTACACACACGTGTACACACAGGCACATGTGCACAGATGAACACGTGTGTCAGTGAAATAGGGCATTTGCCAACGCATGCCAGTCTGTCCCGTTTGTCCTGCACGTTCCCTCAAACACGCAGGGATGTGCACACACGTAGATAGGATGCGGCACCTCTGACCGAGTTAAGTCATGCCTACCACCTTTATGGGTGCAGGTGAGAAGCGGGCAGGTACACAACTTAAAATCTCACACCCCAGAAGTGTGCATATATGAACAGACATGTACGCCAACTGCACACATGCTCACAATCTTGTAGGCCAGGGGTGGGCAAACTATGGCCCACAGGCTGAGTCCTGCCCTCTGTTTGATTGTATAAATAAAGCTTTATTGAGCTGGGCACAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAATTCGAGGCCAGCCTGGCCAACATGGTGAAACCCGGTTTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGTGTATGCCTCTAATCCCAGCTACTTGAGAGGCTGAGGCAAGAGAGTTGCTTGAACCCGGGAGGTGGAGGTTGCATCGAGCCCAGATCGTGCCATTGCACTCCAGCCTGGGCGACAGAGTGAGACTCTGTCTCAGAAAATAAAACAAAACCTCCCAACACCTGACCCCCCTCCTCAACTTCAGTTGCATCATTTGCACGTCTGTGCATGACAGCATGGTGTTTGCATGTGTGGGTATTCTCTCTTTTTTTTTTGCGTGATCATTTGCATGATGGCATCTGTGGGACTGGGTTGAACATCTCTGCCCCGGGCCCCCGAGGGGAGCAGCCCGCTGACCCCCCTGGCCCCACAGCGGACATCGCCCGCAGCATGGGTGCCAAAACGGTCATCGCCATTGACGTGGGGAGCCAGGATGAGACGGACCTCAGCACCTACGGGGACAGCCTGTCCGGCTGGTGGCTGCTGTGGAAGCGGCTGAATCCCTGGGCTGACAAGGTAAAGGTTCCAGACATGGCTGAAATCCAGTCCCGCCTGGCCTACGTGTCCTGTGTGCGGCAGCTAGAGGTTGTCAAGTCCAGCTCCTACTGCGAGTACCTGCGCCCGCCCATCGACTGCTTCAAGACCATGGACTTTGGGAAGTTCGACCAGATCTATGTGAGTGGGCAGGAGTGGCATGGTGCCTGCATAGGTGGTCCGGCTAAGCTTTGCTACTTAAAGCCCAGAGTGGTATGAGGGGGAGGAATCCAGGAGGAATCCAGGAATCCCATCTGGAATCTCTGGAAAACAGATCAGTGATN | pathogenic | 295,188 |
Is the genetic change at chromosome 19, position 7561046, within gene PNPLA6 (patatin like domain 6, lysophospholipase ) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic | GGTTCCAGACATGGCTGAAATCCAGTCCCGCCTGGCCTACGTGTCCTGTGTGCGGCAGCTAGAGGTTGTCAAGTCCAGCTCCTACTGCGAGTACCTGCGCCCGCCCATCGACTGCTTCAAGACCATGGACTTTGGGAAGTTCGACCAGATCTATGTGAGTGGGCAGGAGTGGCATGGTGCCTGCATAGGTGGTCCGGCTAAGCTTTGCTACTTAAAGCCCAGAGTGGTATGAGGGGGAGGAATCCAGGAGGAATCCAGGAATCCCATCTGGAATCTCTGGAAAACAGATCAGTGATCAATTGGTGATGTCTGCAGGGGATGTAGTAGGGGTGTGGCTGTGCATGTGCTGTGTAAGAACTTTCTCCTTATAGGCCAGCTGCACCCCTGGAAGCACTGTATAGTGATTTCTACTGCCATTTCTGCATTGGTGGGAATGAGAATAGTGATGAAGCAGAAATGTCTGCCACAGTTCCAGGAGAGGGAGGTAGCAGTGCGTGTGTTATGTGCTACTGACCCTGAAAAATGTGCCATAGCCCAAGCCAATTGAAATTGATCAGGGGGCCAGGCATGGTGGCTCATGCTTGTAATCCCAGCACCTTGGGAAGCTGAGGTGGGAGGATTGCTTGAAACCAGGAGTTCAAGACCAGCCTGTGCAACATAGCAAAACCCCATCTCTACAAAGATTAAAAATAAAAAATTAGCTGGGTGTGGTTGTGCATGCCTGTCACCCCAGCTACTTAGGGGGCTGAGGTGGGAGGACCGCTCGAGCCCAGGAGTTTGAAGCTGCAGTGAGCTATGATTGCGTCACTGCACTCCAGCCTGGGTGACAGAGCAAAACTCTGTCTCTAAGAAAAAGAAAGGGCCAGGCATGGTGGCTCATGCATTTAATCCCAGCATTTTGGGAGGCCGAGGTGGGCAGATCACTTGAAGTCAGGAGTTCAAGACCAGCCTGGTCAACATGGTGAAACCTCATCTCTACTAAATATACAAAAATTAGCTGGGTGTGGTGGCACATGCCTATAGTCCCAGCTACTTGAGAGGCTGCAGCAGGAGAAATCGCTTGAACCTAGGAGGCAGTGGTTGCAGTGAGCCAAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCAAAAAATAATATTAATTTTAAAAATTAAAGATAAAAATAATAAAAATTTTTTTAAAAAGAAAGAAATTGATCAGTAGCTGCAGCCCAGAAGCCCTGAGTCTGAGAAGAGATGTGTGATGTCCCTTGTGGGCTCACTGGGATAGCATGCCATGAGAAATTCAAGATGTTTGCTGTGGGCTTGGGGATGGCGACATCCACAGATGTACTGCCTGTTTGCAGACTTCAAAATAAGCTCACACATCACCACCTTGTGTTATTTGCTACCCAGCACCCTGCATGGGGCTGTGTGGGAAAGAACATGGAGAGATTGATTGGTAATGTCTGTCAAGGGCAGGACAGGGGATGTGTAGGCGAGTGTGCTATGTGCAGCTGACTCTGAAATAGGTTTAGTCTCAAATGCAACTCCCCCAGAGAATCAGGCTTTTGAGGGGCCAGAGAATGGGCAGACAGAGTGGGGACAAGCAAAGCAGGGTTGCAGACATGGACCCAGCCCCTCATTTCCCACAGGATGTGGGCTACCAGTACGGGAAGGCGGTGTTTGGAGGCTGGAGCCGTGGCAACGTCATTGAGAAAATGCTCACAGACCGGCGGTCTACAGACCTTAATGAGAGCCGCCGTGCAGACGTAAGCCTGTGATGCCCCCAGGGCCACTCTGACTCCACTGATTACAGAACCCAAGCCCCCTTAAAGTCTCCCCGAAACCTCAGATGACCCCACATGTCCCTGGGTTTTGCTGAGCTCTCAGACCTCTGCTGACTTCAGAGAGTTCCCACCCTAGGATCTCCTCTGAGCCCCCAATGCACCACTGGGCCCCCCAGGGGCCCCAAGACTCTGTGGGCCCCCCCTAAGAGCCTCACCAGTGTCACCCCACAGGTGCTTGCCTTCCCAAGCTCTGGCTTCACTGACTTGGCAGAGATTGTGTCCCGGATTGAGCCCCCCACGAGCTATGTCTCTGATGGCTGTGCTGACGGTGAGGGGCCCAGGGGACCCCCCAAGAGGGAGGGGAGTGGCTGGAGATGGCAGGCCAGCCCCAATCCCCTCACCTGTGCCCTGCTCCCCGATTCCAGGAGAGGAGTCAGATTGTCTGACAGAGTATGAGGAGGACGCCGGACCCGACTGCTCGAGGGATGAAGGGGGGTCCCCCGAGGGCGCAAGCCCCAGCACTGCCTCCGAGATGGTGAGAGTGGGTGGCCCAGGGTCCCCTCACATCCCCCAGAGGGTCATGAGTACAGTGTCAGGCAGGGGAGCCGGGGGCGTATTTGAGATCCTGTGTGTGCTGGGTGCTGGCTGACATGTGACGCATCAGTGTCCCGTGCTGGGTGACGTGTGTGTGACCTTCCCTCGCAGGAGGAGGAGAAGTCGATTCTCCGGCAACGACGCTGTCTGCCCCAGGAGCCGCCCGGCTCAGCCACAGATGCCTGAGGACCTCGACAGGGGTCACCCCCTCCCTCCCACCCCTGGACTGGGCTGGGGGTGGCCCCGTGGGGGTAGCTCACTCCCCCTCCTGCTGCTATGCCTGTGACCCCCGCGGCCCACACACTGGACTGACCTGCCCTGAGCGGGGATGCAGTGTTGCACTGATGACTTGACCAGCCCCTCCCCCAATAAACTCGCCTCTTGGAAATGGCTTCCTGTCGTTTTCGGACTGGGGACCCACCTTCTGTGCTCAGGATGGCTGGGGCTGGGGTCTGACACCACCTGGTGCTTGCCCCCCACAGGGAATGCCTTTCTAGAATCCACACGGAGCCCCACTAGGTGCTTGTCCCCACTCTGCCCCTTCTCTGGCTCCTCAGAAGCCAGTGCTGACTCCGGACCACAGGGCCAGACATTCCGTGCCACCCTCCCGGGCTCACAGGTGCTCTTGGGGGCCCGATATGGCACCCCTCAATTTCTTTCTGTGTGTTTTTTGTTTTTTGTGTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCACCCAGGCTGGAGGCTGGAGTGCAGTGGCATGATCTCTGCTCACTGCGACCTCCATCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCGCCACCACACCCAGCTAAATTTTGTGGGGGGGTTTTTTGGTTTTGTTTTGTTTTTTGTTTTAATTTTTGAGACAGTGTCTCTCTCTGTCACCTAGGCTGGAGTGCAGTGATGCGATCTCAGCTTATTGCAGCCTCCAGCTCTTGGATTCAAGTGATTCTCATGCCTCAGCCTTCCAAGTAGCTGGGGCCACAGGCGAGCACCACCATGCCTGGCTAATTTTTGTATTTTTTGTAGAGAAGGGGTTTCACCATGTTGGCCAGTCTGGTCTCAAACTCCTGGCCTCAAGCCATCCACCTGCCTCAGCCTTCCAAAGTGCTGGGAATACAGGCATGTGCCACCACACCTGGCCTTAATTTTTGTATTTTTAGTAGAGACGGCATTTCATCACGTTGCCCAGGCTGGTCTCAAACTCCTGACCTGAAGTGATCTGCCCGCCTTGGCCTCCCAAAGTGTTGGGATTACAGGCATGAGCCTCCTTGACCGGCCAGAACGGTTTATCTTTTTTATGAGTGAATAATATCCCATTGTGTAGATGGACCACATGGTATTTATTGGTTCATCTGTTGGACGCTTGAGTTGCTTCCACCTTTTGGCTATGGGGAGTCATGCTGCTGTGAACACAGGTGTACAACTATCTGGATCCCTGCTTTCAACTTCCTTGGCTAGATGCCCGGGAGTGGAATTGTTGGGTTACATGGAGATTCTGTGTTGAATTGAAGAAACGCCAAACTTTTCCATAGCGGCTGCACCATTTTAAATTCCCACCGACTGTCAGTGCCTCGAGCTGTCAGCACCATGGACAGGGATGGTGCTGTCCGAGGTGCTACTGACGCCCCCTCTGTGTCTTTCCCTCCAAGCCCCCCCACCCCCGCCGATATCCCTGCG | GGTTCCAGACATGGCTGAAATCCAGTCCCGCCTGGCCTACGTGTCCTGTGTGCGGCAGCTAGAGGTTGTCAAGTCCAGCTCCTACTGCGAGTACCTGCGCCCGCCCATCGACTGCTTCAAGACCATGGACTTTGGGAAGTTCGACCAGATCTATGTGAGTGGGCAGGAGTGGCATGGTGCCTGCATAGGTGGTCCGGCTAAGCTTTGCTACTTAAAGCCCAGAGTGGTATGAGGGGGAGGAATCCAGGAGGAATCCAGGAATCCCATCTGGAATCTCTGGAAAACAGATCAGTGATCAATTGGTGATGTCTGCAGGGGATGTAGTAGGGGTGTGGCTGTGCATGTGCTGTGTAAGAACTTTCTCCTTATAGGCCAGCTGCACCCCTGGAAGCACTGTATAGTGATTTCTACTGCCATTTCTGCATTGGTGGGAATGAGAATAGTGATGAAGCAGAAATGTCTGCCACAGTTCCAGGAGAGGGAGGTAGCAGTGCGTGTGTTATGTGCTACTGACCCTGAAAAATGTGCCATAGCCCAAGCCAATTGAAATTGATCAGGGGGCCAGGCATGGTGGCTCATGCTTGTAATCCCAGCACCTTGGGAAGCTGAGGTGGGAGGATTGCTTGAAACCAGGAGTTCAAGACCAGCCTGTGCAACATAGCAAAACCCCATCTCTACAAAGATTAAAAATAAAAAATTAGCTGGGTGTGGTTGTGCATGCCTGTCACCCCAGCTACTTAGGGGGCTGAGGTGGGAGGACCGCTCGAGCCCAGGAGTTTGAAGCTGCAGTGAGCTATGATTGCGTCACTGCACTCCAGCCTGGGTGACAGAGCAAAACTCTGTCTCTAAGAAAAAGAAAGGGCCAGGCATGGTGGCTCATGCATTTAATCCCAGCATTTTGGGAGGCCGAGGTGGGCAGATCACTTGAAGTCAGGAGTTCAAGACCAGCCTGGTCAACATGGTGAAACCTCATCTCTACTAAATATACAAAAATTAGCTGGGTGTGGTGGCACATGCCTATAGTCCCAGCTACTTGAGAGGCTGCAGCAGGAGAAATCGCTTGAACCTAGGAGGCAGTGGTTGCAGTGAGCCAAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCAAAAAATAATATTAATTTTAAAAATTAAAGATAAAAATAATAAAAATTTTTTTAAAAAGAAAGAAATTGATCAGTAGCTGCAGCCCAGAAGCCCTGAGTCTGAGAAGAGATGTGTGATGTCCCTTGTGGGCTCACTGGGATAGCATGCCATGAGAAATTCAAGATGTTTGCTGTGGGCTTGGGGATGGCGACATCCACAGATGTACTGCCTGTTTGCAGACTTCAAAATAAGCTCACACATCACCACCTTGTGTTATTTGCTACCCAGCACCCTGCATGGGGCTGTGTGGGAAAGAACATGGAGAGATTGATTGGTAATGTCTGTCAAGGGCAGGACAGGGGATGTGTAGGCGAGTGTGCTATGTGCAGCTGACTCTGAAATAGGTTTAGTCTCAAATGCAACTCCCCCAGAGAATCAGGCTTTTGAGGGGCCAGAGAATGGGCAGACAGAGTGGGGACAAGCAAAGCAGGGTTGCAGACATGGACCCAGCCCCTCATTTCCCACAGGATGTGGGCTACCAGTACGGGAAGGCGGTGTTTGGAGGCTGGAGCCGTGGCAACGTCATTGAGAAAATGCTCACAGACCGGCGGTCTACAGACCTTAATGAGAGCCGCCGTGCAGACGTAAGCCTGTGATGCCCCCAGGGCCACTCTGACTCCACTGATTACAGAACCCAAGCCCCCTTAAAGTCTCCCCGAAACCTCAGATGACCCCACATGTCCCTGGGTTTTGCTGAGCTCTCAGACCTCTGCTGACTTCAGAGAGTTCCCACCCTAGGATCTCCTCTGAGCCCCCAATGCACCACTGGGCCCCCCAGGGGCCCCAAGACTCTGTGGGCCCCCCCTAAGAGCCTCACCAGTGTCACCCCACAGGTGCTTGCCTTCCCAAGCTCTGGCTTCACTGACGGCAGAGATTGTGTCCCGGATTGAGCCCCCCACGAGCTATGTCTCTGATGGCTGTGCTGACGGTGAGGGGCCCAGGGGACCCCCCAAGAGGGAGGGGAGTGGCTGGAGATGGCAGGCCAGCCCCAATCCCCTCACCTGTGCCCTGCTCCCCGATTCCAGGAGAGGAGTCAGATTGTCTGACAGAGTATGAGGAGGACGCCGGACCCGACTGCTCGAGGGATGAAGGGGGGTCCCCCGAGGGCGCAAGCCCCAGCACTGCCTCCGAGATGGTGAGAGTGGGTGGCCCAGGGTCCCCTCACATCCCCCAGAGGGTCATGAGTACAGTGTCAGGCAGGGGAGCCGGGGGCGTATTTGAGATCCTGTGTGTGCTGGGTGCTGGCTGACATGTGACGCATCAGTGTCCCGTGCTGGGTGACGTGTGTGTGACCTTCCCTCGCAGGAGGAGGAGAAGTCGATTCTCCGGCAACGACGCTGTCTGCCCCAGGAGCCGCCCGGCTCAGCCACAGATGCCTGAGGACCTCGACAGGGGTCACCCCCTCCCTCCCACCCCTGGACTGGGCTGGGGGTGGCCCCGTGGGGGTAGCTCACTCCCCCTCCTGCTGCTATGCCTGTGACCCCCGCGGCCCACACACTGGACTGACCTGCCCTGAGCGGGGATGCAGTGTTGCACTGATGACTTGACCAGCCCCTCCCCCAATAAACTCGCCTCTTGGAAATGGCTTCCTGTCGTTTTCGGACTGGGGACCCACCTTCTGTGCTCAGGATGGCTGGGGCTGGGGTCTGACACCACCTGGTGCTTGCCCCCCACAGGGAATGCCTTTCTAGAATCCACACGGAGCCCCACTAGGTGCTTGTCCCCACTCTGCCCCTTCTCTGGCTCCTCAGAAGCCAGTGCTGACTCCGGACCACAGGGCCAGACATTCCGTGCCACCCTCCCGGGCTCACAGGTGCTCTTGGGGGCCCGATATGGCACCCCTCAATTTCTTTCTGTGTGTTTTTTGTTTTTTGTGTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCACCCAGGCTGGAGGCTGGAGTGCAGTGGCATGATCTCTGCTCACTGCGACCTCCATCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCGCCACCACACCCAGCTAAATTTTGTGGGGGGGTTTTTTGGTTTTGTTTTGTTTTTTGTTTTAATTTTTGAGACAGTGTCTCTCTCTGTCACCTAGGCTGGAGTGCAGTGATGCGATCTCAGCTTATTGCAGCCTCCAGCTCTTGGATTCAAGTGATTCTCATGCCTCAGCCTTCCAAGTAGCTGGGGCCACAGGCGAGCACCACCATGCCTGGCTAATTTTTGTATTTTTTGTAGAGAAGGGGTTTCACCATGTTGGCCAGTCTGGTCTCAAACTCCTGGCCTCAAGCCATCCACCTGCCTCAGCCTTCCAAAGTGCTGGGAATACAGGCATGTGCCACCACACCTGGCCTTAATTTTTGTATTTTTAGTAGAGACGGCATTTCATCACGTTGCCCAGGCTGGTCTCAAACTCCTGACCTGAAGTGATCTGCCCGCCTTGGCCTCCCAAAGTGTTGGGATTACAGGCATGAGCCTCCTTGACCGGCCAGAACGGTTTATCTTTTTTATGAGTGAATAATATCCCATTGTGTAGATGGACCACATGGTATTTATTGGTTCATCTGTTGGACGCTTGAGTTGCTTCCACCTTTTGGCTATGGGGAGTCATGCTGCTGTGAACACAGGTGTACAACTATCTGGATCCCTGCTTTCAACTTCCTTGGCTAGATGCCCGGGAGTGGAATTGTTGGGTTACATGGAGATTCTGTGTTGAATTGAAGAAACGCCAAACTTTTCCATAGCGGCTGCACCATTTTAAATTCCCACCGACTGTCAGTGCCTCGAGCTGTCAGCACCATGGACAGGGATGGTGCTGTCCGAGGTGCTACTGACGCCCCCTCTGTGTCTTTCCCTCCAAGCCCCCCCACCCCCGCCGATATCCCTGCGNN | pathogenic | 295,204 |
Does the genetic variant at chromosome 19, position 7561127, impacting gene PNPLA6 (patatin like domain 6, lysophospholipase ), appear benign or pathogenic? If pathogenic, name the associated disease(s). | benign | CTACTGCGAGTACCTGCGCCCGCCCATCGACTGCTTCAAGACCATGGACTTTGGGAAGTTCGACCAGATCTATGTGAGTGGGCAGGAGTGGCATGGTGCCTGCATAGGTGGTCCGGCTAAGCTTTGCTACTTAAAGCCCAGAGTGGTATGAGGGGGAGGAATCCAGGAGGAATCCAGGAATCCCATCTGGAATCTCTGGAAAACAGATCAGTGATCAATTGGTGATGTCTGCAGGGGATGTAGTAGGGGTGTGGCTGTGCATGTGCTGTGTAAGAACTTTCTCCTTATAGGCCAGCTGCACCCCTGGAAGCACTGTATAGTGATTTCTACTGCCATTTCTGCATTGGTGGGAATGAGAATAGTGATGAAGCAGAAATGTCTGCCACAGTTCCAGGAGAGGGAGGTAGCAGTGCGTGTGTTATGTGCTACTGACCCTGAAAAATGTGCCATAGCCCAAGCCAATTGAAATTGATCAGGGGGCCAGGCATGGTGGCTCATGCTTGTAATCCCAGCACCTTGGGAAGCTGAGGTGGGAGGATTGCTTGAAACCAGGAGTTCAAGACCAGCCTGTGCAACATAGCAAAACCCCATCTCTACAAAGATTAAAAATAAAAAATTAGCTGGGTGTGGTTGTGCATGCCTGTCACCCCAGCTACTTAGGGGGCTGAGGTGGGAGGACCGCTCGAGCCCAGGAGTTTGAAGCTGCAGTGAGCTATGATTGCGTCACTGCACTCCAGCCTGGGTGACAGAGCAAAACTCTGTCTCTAAGAAAAAGAAAGGGCCAGGCATGGTGGCTCATGCATTTAATCCCAGCATTTTGGGAGGCCGAGGTGGGCAGATCACTTGAAGTCAGGAGTTCAAGACCAGCCTGGTCAACATGGTGAAACCTCATCTCTACTAAATATACAAAAATTAGCTGGGTGTGGTGGCACATGCCTATAGTCCCAGCTACTTGAGAGGCTGCAGCAGGAGAAATCGCTTGAACCTAGGAGGCAGTGGTTGCAGTGAGCCAAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCAAAAAATAATATTAATTTTAAAAATTAAAGATAAAAATAATAAAAATTTTTTTAAAAAGAAAGAAATTGATCAGTAGCTGCAGCCCAGAAGCCCTGAGTCTGAGAAGAGATGTGTGATGTCCCTTGTGGGCTCACTGGGATAGCATGCCATGAGAAATTCAAGATGTTTGCTGTGGGCTTGGGGATGGCGACATCCACAGATGTACTGCCTGTTTGCAGACTTCAAAATAAGCTCACACATCACCACCTTGTGTTATTTGCTACCCAGCACCCTGCATGGGGCTGTGTGGGAAAGAACATGGAGAGATTGATTGGTAATGTCTGTCAAGGGCAGGACAGGGGATGTGTAGGCGAGTGTGCTATGTGCAGCTGACTCTGAAATAGGTTTAGTCTCAAATGCAACTCCCCCAGAGAATCAGGCTTTTGAGGGGCCAGAGAATGGGCAGACAGAGTGGGGACAAGCAAAGCAGGGTTGCAGACATGGACCCAGCCCCTCATTTCCCACAGGATGTGGGCTACCAGTACGGGAAGGCGGTGTTTGGAGGCTGGAGCCGTGGCAACGTCATTGAGAAAATGCTCACAGACCGGCGGTCTACAGACCTTAATGAGAGCCGCCGTGCAGACGTAAGCCTGTGATGCCCCCAGGGCCACTCTGACTCCACTGATTACAGAACCCAAGCCCCCTTAAAGTCTCCCCGAAACCTCAGATGACCCCACATGTCCCTGGGTTTTGCTGAGCTCTCAGACCTCTGCTGACTTCAGAGAGTTCCCACCCTAGGATCTCCTCTGAGCCCCCAATGCACCACTGGGCCCCCCAGGGGCCCCAAGACTCTGTGGGCCCCCCCTAAGAGCCTCACCAGTGTCACCCCACAGGTGCTTGCCTTCCCAAGCTCTGGCTTCACTGACTTGGCAGAGATTGTGTCCCGGATTGAGCCCCCCACGAGCTATGTCTCTGATGGCTGTGCTGACGGTGAGGGGCCCAGGGGACCCCCCAAGAGGGAGGGGAGTGGCTGGAGATGGCAGGCCAGCCCCAATCCCCTCACCTGTGCCCTGCTCCCCGATTCCAGGAGAGGAGTCAGATTGTCTGACAGAGTATGAGGAGGACGCCGGACCCGACTGCTCGAGGGATGAAGGGGGGTCCCCCGAGGGCGCAAGCCCCAGCACTGCCTCCGAGATGGTGAGAGTGGGTGGCCCAGGGTCCCCTCACATCCCCCAGAGGGTCATGAGTACAGTGTCAGGCAGGGGAGCCGGGGGCGTATTTGAGATCCTGTGTGTGCTGGGTGCTGGCTGACATGTGACGCATCAGTGTCCCGTGCTGGGTGACGTGTGTGTGACCTTCCCTCGCAGGAGGAGGAGAAGTCGATTCTCCGGCAACGACGCTGTCTGCCCCAGGAGCCGCCCGGCTCAGCCACAGATGCCTGAGGACCTCGACAGGGGTCACCCCCTCCCTCCCACCCCTGGACTGGGCTGGGGGTGGCCCCGTGGGGGTAGCTCACTCCCCCTCCTGCTGCTATGCCTGTGACCCCCGCGGCCCACACACTGGACTGACCTGCCCTGAGCGGGGATGCAGTGTTGCACTGATGACTTGACCAGCCCCTCCCCCAATAAACTCGCCTCTTGGAAATGGCTTCCTGTCGTTTTCGGACTGGGGACCCACCTTCTGTGCTCAGGATGGCTGGGGCTGGGGTCTGACACCACCTGGTGCTTGCCCCCCACAGGGAATGCCTTTCTAGAATCCACACGGAGCCCCACTAGGTGCTTGTCCCCACTCTGCCCCTTCTCTGGCTCCTCAGAAGCCAGTGCTGACTCCGGACCACAGGGCCAGACATTCCGTGCCACCCTCCCGGGCTCACAGGTGCTCTTGGGGGCCCGATATGGCACCCCTCAATTTCTTTCTGTGTGTTTTTTGTTTTTTGTGTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCACCCAGGCTGGAGGCTGGAGTGCAGTGGCATGATCTCTGCTCACTGCGACCTCCATCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCGCCACCACACCCAGCTAAATTTTGTGGGGGGGTTTTTTGGTTTTGTTTTGTTTTTTGTTTTAATTTTTGAGACAGTGTCTCTCTCTGTCACCTAGGCTGGAGTGCAGTGATGCGATCTCAGCTTATTGCAGCCTCCAGCTCTTGGATTCAAGTGATTCTCATGCCTCAGCCTTCCAAGTAGCTGGGGCCACAGGCGAGCACCACCATGCCTGGCTAATTTTTGTATTTTTTGTAGAGAAGGGGTTTCACCATGTTGGCCAGTCTGGTCTCAAACTCCTGGCCTCAAGCCATCCACCTGCCTCAGCCTTCCAAAGTGCTGGGAATACAGGCATGTGCCACCACACCTGGCCTTAATTTTTGTATTTTTAGTAGAGACGGCATTTCATCACGTTGCCCAGGCTGGTCTCAAACTCCTGACCTGAAGTGATCTGCCCGCCTTGGCCTCCCAAAGTGTTGGGATTACAGGCATGAGCCTCCTTGACCGGCCAGAACGGTTTATCTTTTTTATGAGTGAATAATATCCCATTGTGTAGATGGACCACATGGTATTTATTGGTTCATCTGTTGGACGCTTGAGTTGCTTCCACCTTTTGGCTATGGGGAGTCATGCTGCTGTGAACACAGGTGTACAACTATCTGGATCCCTGCTTTCAACTTCCTTGGCTAGATGCCCGGGAGTGGAATTGTTGGGTTACATGGAGATTCTGTGTTGAATTGAAGAAACGCCAAACTTTTCCATAGCGGCTGCACCATTTTAAATTCCCACCGACTGTCAGTGCCTCGAGCTGTCAGCACCATGGACAGGGATGGTGCTGTCCGAGGTGCTACTGACGCCCCCTCTGTGTCTTTCCCTCCAAGCCCCCCCACCCCCGCCGATATCCCTGCGCCCTCCAGATCTCTGAGTTTTGAGGGTGGAGGGGGACATTTAGGGGAAAGTTCAGTCCATAGTTTGGCACCTACTGGTGTC | CTACTGCGAGTACCTGCGCCCGCCCATCGACTGCTTCAAGACCATGGACTTTGGGAAGTTCGACCAGATCTATGTGAGTGGGCAGGAGTGGCATGGTGCCTGCATAGGTGGTCCGGCTAAGCTTTGCTACTTAAAGCCCAGAGTGGTATGAGGGGGAGGAATCCAGGAGGAATCCAGGAATCCCATCTGGAATCTCTGGAAAACAGATCAGTGATCAATTGGTGATGTCTGCAGGGGATGTAGTAGGGGTGTGGCTGTGCATGTGCTGTGTAAGAACTTTCTCCTTATAGGCCAGCTGCACCCCTGGAAGCACTGTATAGTGATTTCTACTGCCATTTCTGCATTGGTGGGAATGAGAATAGTGATGAAGCAGAAATGTCTGCCACAGTTCCAGGAGAGGGAGGTAGCAGTGCGTGTGTTATGTGCTACTGACCCTGAAAAATGTGCCATAGCCCAAGCCAATTGAAATTGATCAGGGGGCCAGGCATGGTGGCTCATGCTTGTAATCCCAGCACCTTGGGAAGCTGAGGTGGGAGGATTGCTTGAAACCAGGAGTTCAAGACCAGCCTGTGCAACATAGCAAAACCCCATCTCTACAAAGATTAAAAATAAAAAATTAGCTGGGTGTGGTTGTGCATGCCTGTCACCCCAGCTACTTAGGGGGCTGAGGTGGGAGGACCGCTCGAGCCCAGGAGTTTGAAGCTGCAGTGAGCTATGATTGCGTCACTGCACTCCAGCCTGGGTGACAGAGCAAAACTCTGTCTCTAAGAAAAAGAAAGGGCCAGGCATGGTGGCTCATGCATTTAATCCCAGCATTTTGGGAGGCCGAGGTGGGCAGATCACTTGAAGTCAGGAGTTCAAGACCAGCCTGGTCAACATGGTGAAACCTCATCTCTACTAAATATACAAAAATTAGCTGGGTGTGGTGGCACATGCCTATAGTCCCAGCTACTTGAGAGGCTGCAGCAGGAGAAATCGCTTGAACCTAGGAGGCAGTGGTTGCAGTGAGCCAAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCAAAAAATAATATTAATTTTAAAAATTAAAGATAAAAATAATAAAAATTTTTTTAAAAAGAAAGAAATTGATCAGTAGCTGCAGCCCAGAAGCCCTGAGTCTGAGAAGAGATGTGTGATGTCCCTTGTGGGCTCACTGGGATAGCATGCCATGAGAAATTCAAGATGTTTGCTGTGGGCTTGGGGATGGCGACATCCACAGATGTACTGCCTGTTTGCAGACTTCAAAATAAGCTCACACATCACCACCTTGTGTTATTTGCTACCCAGCACCCTGCATGGGGCTGTGTGGGAAAGAACATGGAGAGATTGATTGGTAATGTCTGTCAAGGGCAGGACAGGGGATGTGTAGGCGAGTGTGCTATGTGCAGCTGACTCTGAAATAGGTTTAGTCTCAAATGCAACTCCCCCAGAGAATCAGGCTTTTGAGGGGCCAGAGAATGGGCAGACAGAGTGGGGACAAGCAAAGCAGGGTTGCAGACATGGACCCAGCCCCTCATTTCCCACAGGATGTGGGCTACCAGTACGGGAAGGCGGTGTTTGGAGGCTGGAGCCGTGGCAACGTCATTGAGAAAATGCTCACAGACCGGCGGTCTACAGACCTTAATGAGAGCCGCCGTGCAGACGTAAGCCTGTGATGCCCCCAGGGCCACTCTGACTCCACTGATTACAGAACCCAAGCCCCCTTAAAGTCTCCCCGAAACCTCAGATGACCCCACATGTCCCTGGGTTTTGCTGAGCTCTCAGACCTCTGCTGACTTCAGAGAGTTCCCACCCTAGGATCTCCTCTGAGCCCCCAATGCACCACTGGGCCCCCCAGGGGCCCCAAGACTCTGTGGGCCCCCCCTAAGAGCCTCACCAGTGTCACCCCACAGGTGCTTGCCTTCCCAAGCTCTGGCTTCACTGACTTGGCAGAGATTGTGTCCCGGATTGAGCCCCCCACGAGCTATGTCTCTGATGGCTGTGCTGACGGTGAGGGGCCCAGGGGACCCCCAAGAGGGAGGGGAGTGGCTGGAGATGGCAGGCCAGCCCCAATCCCCTCACCTGTGCCCTGCTCCCCGATTCCAGGAGAGGAGTCAGATTGTCTGACAGAGTATGAGGAGGACGCCGGACCCGACTGCTCGAGGGATGAAGGGGGGTCCCCCGAGGGCGCAAGCCCCAGCACTGCCTCCGAGATGGTGAGAGTGGGTGGCCCAGGGTCCCCTCACATCCCCCAGAGGGTCATGAGTACAGTGTCAGGCAGGGGAGCCGGGGGCGTATTTGAGATCCTGTGTGTGCTGGGTGCTGGCTGACATGTGACGCATCAGTGTCCCGTGCTGGGTGACGTGTGTGTGACCTTCCCTCGCAGGAGGAGGAGAAGTCGATTCTCCGGCAACGACGCTGTCTGCCCCAGGAGCCGCCCGGCTCAGCCACAGATGCCTGAGGACCTCGACAGGGGTCACCCCCTCCCTCCCACCCCTGGACTGGGCTGGGGGTGGCCCCGTGGGGGTAGCTCACTCCCCCTCCTGCTGCTATGCCTGTGACCCCCGCGGCCCACACACTGGACTGACCTGCCCTGAGCGGGGATGCAGTGTTGCACTGATGACTTGACCAGCCCCTCCCCCAATAAACTCGCCTCTTGGAAATGGCTTCCTGTCGTTTTCGGACTGGGGACCCACCTTCTGTGCTCAGGATGGCTGGGGCTGGGGTCTGACACCACCTGGTGCTTGCCCCCCACAGGGAATGCCTTTCTAGAATCCACACGGAGCCCCACTAGGTGCTTGTCCCCACTCTGCCCCTTCTCTGGCTCCTCAGAAGCCAGTGCTGACTCCGGACCACAGGGCCAGACATTCCGTGCCACCCTCCCGGGCTCACAGGTGCTCTTGGGGGCCCGATATGGCACCCCTCAATTTCTTTCTGTGTGTTTTTTGTTTTTTGTGTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCACCCAGGCTGGAGGCTGGAGTGCAGTGGCATGATCTCTGCTCACTGCGACCTCCATCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCGCCACCACACCCAGCTAAATTTTGTGGGGGGGTTTTTTGGTTTTGTTTTGTTTTTTGTTTTAATTTTTGAGACAGTGTCTCTCTCTGTCACCTAGGCTGGAGTGCAGTGATGCGATCTCAGCTTATTGCAGCCTCCAGCTCTTGGATTCAAGTGATTCTCATGCCTCAGCCTTCCAAGTAGCTGGGGCCACAGGCGAGCACCACCATGCCTGGCTAATTTTTGTATTTTTTGTAGAGAAGGGGTTTCACCATGTTGGCCAGTCTGGTCTCAAACTCCTGGCCTCAAGCCATCCACCTGCCTCAGCCTTCCAAAGTGCTGGGAATACAGGCATGTGCCACCACACCTGGCCTTAATTTTTGTATTTTTAGTAGAGACGGCATTTCATCACGTTGCCCAGGCTGGTCTCAAACTCCTGACCTGAAGTGATCTGCCCGCCTTGGCCTCCCAAAGTGTTGGGATTACAGGCATGAGCCTCCTTGACCGGCCAGAACGGTTTATCTTTTTTATGAGTGAATAATATCCCATTGTGTAGATGGACCACATGGTATTTATTGGTTCATCTGTTGGACGCTTGAGTTGCTTCCACCTTTTGGCTATGGGGAGTCATGCTGCTGTGAACACAGGTGTACAACTATCTGGATCCCTGCTTTCAACTTCCTTGGCTAGATGCCCGGGAGTGGAATTGTTGGGTTACATGGAGATTCTGTGTTGAATTGAAGAAACGCCAAACTTTTCCATAGCGGCTGCACCATTTTAAATTCCCACCGACTGTCAGTGCCTCGAGCTGTCAGCACCATGGACAGGGATGGTGCTGTCCGAGGTGCTACTGACGCCCCCTCTGTGTCTTTCCCTCCAAGCCCCCCCACCCCCGCCGATATCCCTGCGCCCTCCAGATCTCTGAGTTTTGAGGGTGGAGGGGGACATTTAGGGGAAAGTTCAGTCCATAGTTTGGCACCTACTGGTGTCN | benign | 295,205 |
Variant chromosome 19, position 7631460, gene STXBP2: benign or pathogenic? Disease(s)? | benign | TCCCCTGCGGCGTCCAGGTCCCAATGCCCCAACGCAGGCCACCCCCGGCTCCTCTGTGGACTCACGAAGACAAGGTCCGGCCGCTCGGGCCGCGAGAGTCGCGCCATCACCACCATTTTTCTGGATGCCCAGGTACAGGAGAGAGTCGCGCGCTTATGACGTCTACCACTGACGGCCCGCCCCTCCGAGCCAGACCCGTTTTCTATTGGTTAAATCATTTTTGACGGACAGGCCCACGTTATTGACTTCTTTTCGACGACGCCAGCGACCGGAAGCAGAATAGAGGCGCCAGAAGATGCGCCATCAGGATACACATTGGCCAATCAGCTTCAGCAATGGAGCGTGCAAAACACCAGTGAGCTTCTGTCTTGCTGGAGGGTCGGCTTTGGGCGGAACTGGCTTTGTTGACCGGGAGAAACGAGATGGGGGTGAAGCTGGAGATATTTCGGGTCAGTGGACACAGGAGTGGGTTGGGAGGCTGGGCAGGGGATCTTCCTGGATCTGAAGATGAGGTTGGAAATGGGGGGACTTCAAAGGAAGAGGGAGCTCCAAGGAGAAAGCTCTTAAGATTTGAGAGGAACCTTTCTGGTTGGAAATCCAGGAGAGGGGACGCTGGGCTGGGGGGGTTCTCGGATTTGGGCTTCTGGGTTTGGGGGCTGTGAGAGGGCTGGTCCGAGGAAGGACCTCAGAGAGGGGTGAGCTGAGAAGGGGGCTCTAAAGAAGGAAGACTTAAGATCCTGGGGGAGCTCTCGGGCTCGTGGTGGGTGGGTGTCTATGACAGGGAGATTCCTAGACTTCGAGAAGTGGAGTTGAAGAGTGACGCCTCCTGGGTTTGGGGGTGCTCCCGGGATCTTAAGTGGGGATGGGTAATGAGGTCTCGAGGAGATGCTTTTGATTGTAGCTGGGGCGTCTGTGTGTCTGTCTGTGTTTGAGAGGAAGACTCCAGCTCAGAGGGAACTTTCAGGAATGAGGCCTCCTGGATTATAGGAGTTAGGTTTTAGGGTGCGAGGTTTCTGTACCCTTGGTGGGAGTTCTGGGATTCTTGGGTCGGCCGTAACGAGGCGCTTCTGGACTCTGCAGTAGGATGGGTCCCCCAGGCTCTGAGGAGCCTCTGCACATTGCTTGGGGGGAGCTCACCTCACCCACCCTCTGCCATTCCAGATGATAATCTACCTCACTTTCCCTGTGGCTATGTTCTGGGTTTCCAATCAGGCCGAGTGGTTTGAGGACGATGTCATACAGCGCAAGGTGGGCATAAGAGGAGTGTTTGAGGGTTCATTCCAGGGGTGGGAGAGGGTGTGGGGCAGCAGTCTGCTGGGGACTAATGTCTGCCTCCCATAAGCCGACCCTGCCCTGATGTGGGGCTCTGGAGGCCTTTGGCTCGTGTCCCATTTGTGACTTTTCCTTACAGAGGGAGCTGTGGCCACCTGAGAAGGTAAGTGATCTCTTCTTCCTGCCAGAGGGATGGAGGAGGCTGGATTCTTGTATCCGGGATGGGTTTTAGATGAAAATTTTAGGCCAGGCGCAGTGGCTCATGCTTGTAATCCCAGGGCATGGGAGGCTGAGGTGGGTAGATCACTTGAGGTCAGGAGTTCAAAACCAGCCTGGCCAACATGGCGAAACCCCATGTCTACAGAAATACAAAACTTAGCCAGGCATGGTGGCAGGCGCCTATAATTCCAGCTGCTTGGGAGGCTGAGGGAGAAGAATCACTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCCAAGATCACGCCACTGCACTCCAGCCTGGGCAATAGAGTGAGACTTTGTCTCAAAAAGAAACATTTTACTCTCAGCCATGAGTAAGGAACCGAGAGCAGAGGAGTAGATGGTTTCCTTATTGCCTTCTCCTGGAAGAGTGAAGCGGATCCCACGCGGACCCCTTTGTAATTGGCAGGGGGCTTCCAGTGAAGACACTGAACCCTGAAGCCGTGGTCTGGGGCAGGGTGGTGGGAGAGGTGGGCGGGGGGGGGTGGTCCCGGCTCTGAGGTGTGTGCCCCTCCCCCCTTCCTGTCCCACCCGCTTCTCCACCCCTAGCTTCAAGAGATAGAGGAATTCAAAGAGAGGTTACGGAAGCGGCGGGAGGAGAAGCTCCTTCGCGACGCCCAGCAGAACTCCTGAGGCCTCCAAGTGGGAGTCCTAGCCCCTCCCCTGATGAAATATACATATACTCAGTTCCTTGTTATTCATTTAAGTGTTTTATTCTTTTATCAGTTTTTGGGGGCCGAGTGAGACCCAGGATGCCTCAGGCCCTCAGGGGGCTTGTGTCGGGGGCTGGGGGCTGCTGTTCCGACGGAAGCCGAGAGCGGTCGGGTCCTGAGGGGTGAGCAGGGGTTGGGGACTGAGGGTCCCAGCTCGTTTCTGTGCTCCGTCCTGTGGATGAAGAGGGGTCAGCCAGGGGGAGGGCTCAAGGGCAGTGCCGGCCACAGGTGGCGAACAATGGAGAGAGGGTGCAGGTAGCCACCGTGTCCCACCTCATTGTGAGCACTGGTCTATGTTTACCCTCAATATCTGCCATTTAGGGTGGCATTTGAGTGTGAGGTGGCAGGTCTTGGGGCCCTCGCTGGGATCTTGATCAGAACCCAAGCTTCGTGTATGTGTGAAGTCAACAGATGTGAGTATACAGATGTATATATCCTATGTGTGAGCTTACGTGACTTCCTCCCTGGGATACTTTCCTAGGAAGGGGTCCTATTTTCTCCCTTTGGCCTCCCCAGAACCTTCAGACTTGGGGGCAGGAGCCACAAGTTCCAGCCATGGGTCTTACACTAGCATGGCCCCTGTATAACCTTGGGCCCCTCTAGCCACTGCCTGGGCCTTGGTCCTCCCATCTGAAGTCAGGGCAGCGGATGGACAGAGATGGGGCAGGCCCTGTTCCCTCCTGGCTGGGGTGGAGGGCAGGATCGGAGAGCACTGCCTGGCGGGTTTCTCCTCGACATCGCCAGAACATCACCTACCTTGGACCCCACGGGCTGGAAGCCGGGCAGGCTGCTGACTGTCACACGTTGGTCATCCATGCGGCGGCCCTGGGTACTGGCCAGCATGTCCATGAGGCTGTCCATCTCGGGGGTGGGGTCGCTCTCTGCGTGGACGTTCACAGACTTGGGAGGACACAGCCGGAGTGGGGGCCCCCAACCCTACCCCTTCACCCCCACACAGATGCTTCAGGGTGCACAACCACCTCCCACATCCCGTGCCCCCAGGCCCTCCAGATGACCACTTGCCCTGCACTCCCACCCCGTTCACGCCCCATGGACAGCACCCCCGTGCCCATGCTCACGGCTCTTGGTGGTCTGGCCCGGCCCGGCTTGCAGTGAACAGCGCTGTCCCTCCATCCGGTCGCCCTGCACGTGGCTCAGCAGATTGAAGAAGCCCTCCTGGTCTGGGGAGCCCGCCTGGGGACAGACTCGCTCAGTCTGGTTGGCCCTTCAGCTTGGGGGCCCCTCCCCAAACTTCCTAGCCAGCTTGCTCACACCCTGACCCCGGGGCCTGCCGTCCCCACTTCCTCAGCTCTCACCATGGTCCCCGCCGATCCTCTCTGCAGAGCTGTTCTGAATGAGACATGAGTCTCCTTCCCAATCCCGGCCCCCGCCCCAGGGGCCCTGGCCAGCAGTGCCACTTCACGTGGTACCGCTTCAAGGGACAGGCTCCGATGCGTGTCCCGCCGTCCTAGATTGGGGCCTGATGAGTGTGGCCTGGGAGCTGGGACACGAATCAGGGAAACATGGCCCAGGAGCTACCCCCAGGTCCCAGCATCTCCCATCAATAGGGGTCCACACGGAGAGCCCTGCCCTCTGCCCTGGGGCCTGGCACTCAGACCCCCAAGCCCACCAGCCCCTTTCTACAGCCACAACTGGGTCAGGGGGTCCTAGGAGACTCACTCGTTAATTAGGTGCCCTACAAACTAGTCTTGTCAATCATGGGCTCTGAGACCTTGAGCTGGGGGTGGGGTGGGGGCAGGGCCCTCTCACCTCGGCACAGGGGCCTGAGCCTTCCTCCGTCTTCTCCTCCTGATCCATCATGTCCCTGGACTCCAGTCACTTTTCTGCTGGCCTCTGCCCCGGCCCAGTGC | TCCCCTGCGGCGTCCAGGTCCCAATGCCCCAACGCAGGCCACCCCCGGCTCCTCTGTGGACTCACGAAGACAAGGTCCGGCCGCTCGGGCCGCGAGAGTCGCGCCATCACCACCATTTTTCTGGATGCCCAGGTACAGGAGAGAGTCGCGCGCTTATGACGTCTACCACTGACGGCCCGCCCCTCCGAGCCAGACCCGTTTTCTATTGGTTAAATCATTTTTGACGGACAGGCCCACGTTATTGACTTCTTTTCGACGACGCCAGCGACCGGAAGCAGAATAGAGGCGCCAGAAGATGCGCCATCAGGATACACATTGGCCAATCAGCTTCAGCAATGGAGCGTGCAAAACACCAGTGAGCTTCTGTCTTGCTGGAGGGTCGGCTTTGGGCGGAACTGGCTTTGTTGACCGGGAGAAACGAGATGGGGGTGAAGCTGGAGATATTTCGGGTCAGTGGACACAGGAGTGGGTTGGGAGGCTGGGCAGGGGATCTTCCTGGATCTGAAGATGAGGTTGGAAATGGGGGGACTTCAAAGGAAGAGGGAGCTCCAAGGAGAAAGCTCTTAAGATTTGAGAGGAACCTTTCTGGTTGGAAATCCAGGAGAGGGGACGCTGGGCTGGGGGGGTTCTCGGATTTGGGCTTCTGGGTTTGGGGGCTGTGAGAGGGCTGGTCCGAGGAAGGACCTCAGAGAGGGGTGAGCTGAGAAGGGGGCTCTAAAGAAGGAAGACTTAAGATCCTGGGGGAGCTCTCGGGCTCGTGGTGGGTGGGTGTCTATGACAGGGAGATTCCTAGACTTCGAGAAGTGGAGTTGAAGAGTGACGCCTCCTGGGTTTGGGGGTGCTCCCGGGATCTTAAGTGGGGATGGGTAATGAGGTCTCGAGGAGATGCTTTTGATTGTAGCTGGGGCGTCTGTGTGTCTGTCTGTGTTTGAGAGGAAGACTCCAGCTCAGAGGGAACTTTCAGGAATGAGGCCTCCTGGATTATAGGAGTTAGGTTTTAGGGTGCGAGGTTTCTGTACCCTTGGTGGGAGTTCTGGGATTCTTGGGTCGGCCGTAACGAGGCGCTTCTGGACTCTGCAGTAGGATGGGTCCCCCAGGCTCTGAGGAGCCTCTGCACATTGCTTGGGGGGAGCTCACCTCACCCACCCTCTGCCATTCCAGATGATAATCTACCTCACTTTCCCTGTGGCTATGTTCTGGGTTTCCAATCAGGCCGAGTGGTTTGAGGACGATGTCATACAGCGCAAGGTGGGCATAAGAGGAGTGTTTGAGGGTTCATTCCAGGGGTGGGAGAGGGTGTGGGGCAGCAGTCTGCTGGGGACTAATGTCTGCCTCCCATAAGCCGACCCTGCCCTGATGTGGGGCTCTGGAGGCCTTTGGCTCGTGTCCCATTTGTGACTTTTCCTTACAGAGGGAGCTGTGGCCACCTGAGAAGGTAAGTGATCTCTTCTTCCTGCCAGAGGGATGGAGGAGGCTGGATTCTTGTATCCGGGATGGGTTTTAGATGAAAATTTTAGGCCAGGCGCAGTGGCTCATGCTTGTAATCCCAGGGCATGGGAGGCTGAGGTGGGTAGATCACTTGAGGTCAGGAGTTCAAAACCAGCCTGGCCAACATGGCGAAACCCCATGTCTACAGAAATACAAAACTTAGCCAGGCATGGTGGCAGGCGCCTATAATTCCAGCTGCTTGGGAGGCTGAGGGAGAAGAATCACTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCCAAGATCACGCCACTGCACTCCAGCCTGGGCAATAGAGTGAGACTTTGTCTCAAAAAGAAACATTTTACTCTCAGCCATGAGTAAGGAACCGAGAGCAGAGGAGTAGATGGTTTCCTTATTGCCTTCTCCTGGAAGAGTGAAGCGGATCCCACGCGGACCCCTTTGTAATTGGCAGGGGGCTTCCAGTGAAGACACTGAACCCTGAAGCCGTGGTCTGGGGCAGGGTGGTGGGAGAGGTGGGCGGGGGGGGGTGGTCCCGGCTCTGAGGTGTGTGCCCCTCCCCCCTTCCTGTCCCACCCGCTTCACCCCTAGCTTCAAGAGATAGAGGAATTCAAAGAGAGGTTACGGAAGCGGCGGGAGGAGAAGCTCCTTCGCGACGCCCAGCAGAACTCCTGAGGCCTCCAAGTGGGAGTCCTAGCCCCTCCCCTGATGAAATATACATATACTCAGTTCCTTGTTATTCATTTAAGTGTTTTATTCTTTTATCAGTTTTTGGGGGCCGAGTGAGACCCAGGATGCCTCAGGCCCTCAGGGGGCTTGTGTCGGGGGCTGGGGGCTGCTGTTCCGACGGAAGCCGAGAGCGGTCGGGTCCTGAGGGGTGAGCAGGGGTTGGGGACTGAGGGTCCCAGCTCGTTTCTGTGCTCCGTCCTGTGGATGAAGAGGGGTCAGCCAGGGGGAGGGCTCAAGGGCAGTGCCGGCCACAGGTGGCGAACAATGGAGAGAGGGTGCAGGTAGCCACCGTGTCCCACCTCATTGTGAGCACTGGTCTATGTTTACCCTCAATATCTGCCATTTAGGGTGGCATTTGAGTGTGAGGTGGCAGGTCTTGGGGCCCTCGCTGGGATCTTGATCAGAACCCAAGCTTCGTGTATGTGTGAAGTCAACAGATGTGAGTATACAGATGTATATATCCTATGTGTGAGCTTACGTGACTTCCTCCCTGGGATACTTTCCTAGGAAGGGGTCCTATTTTCTCCCTTTGGCCTCCCCAGAACCTTCAGACTTGGGGGCAGGAGCCACAAGTTCCAGCCATGGGTCTTACACTAGCATGGCCCCTGTATAACCTTGGGCCCCTCTAGCCACTGCCTGGGCCTTGGTCCTCCCATCTGAAGTCAGGGCAGCGGATGGACAGAGATGGGGCAGGCCCTGTTCCCTCCTGGCTGGGGTGGAGGGCAGGATCGGAGAGCACTGCCTGGCGGGTTTCTCCTCGACATCGCCAGAACATCACCTACCTTGGACCCCACGGGCTGGAAGCCGGGCAGGCTGCTGACTGTCACACGTTGGTCATCCATGCGGCGGCCCTGGGTACTGGCCAGCATGTCCATGAGGCTGTCCATCTCGGGGGTGGGGTCGCTCTCTGCGTGGACGTTCACAGACTTGGGAGGACACAGCCGGAGTGGGGGCCCCCAACCCTACCCCTTCACCCCCACACAGATGCTTCAGGGTGCACAACCACCTCCCACATCCCGTGCCCCCAGGCCCTCCAGATGACCACTTGCCCTGCACTCCCACCCCGTTCACGCCCCATGGACAGCACCCCCGTGCCCATGCTCACGGCTCTTGGTGGTCTGGCCCGGCCCGGCTTGCAGTGAACAGCGCTGTCCCTCCATCCGGTCGCCCTGCACGTGGCTCAGCAGATTGAAGAAGCCCTCCTGGTCTGGGGAGCCCGCCTGGGGACAGACTCGCTCAGTCTGGTTGGCCCTTCAGCTTGGGGGCCCCTCCCCAAACTTCCTAGCCAGCTTGCTCACACCCTGACCCCGGGGCCTGCCGTCCCCACTTCCTCAGCTCTCACCATGGTCCCCGCCGATCCTCTCTGCAGAGCTGTTCTGAATGAGACATGAGTCTCCTTCCCAATCCCGGCCCCCGCCCCAGGGGCCCTGGCCAGCAGTGCCACTTCACGTGGTACCGCTTCAAGGGACAGGCTCCGATGCGTGTCCCGCCGTCCTAGATTGGGGCCTGATGAGTGTGGCCTGGGAGCTGGGACACGAATCAGGGAAACATGGCCCAGGAGCTACCCCCAGGTCCCAGCATCTCCCATCAATAGGGGTCCACACGGAGAGCCCTGCCCTCTGCCCTGGGGCCTGGCACTCAGACCCCCAAGCCCACCAGCCCCTTTCTACAGCCACAACTGGGTCAGGGGGTCCTAGGAGACTCACTCGTTAATTAGGTGCCCTACAAACTAGTCTTGTCAATCATGGGCTCTGAGACCTTGAGCTGGGGGTGGGGTGGGGGCAGGGCCCTCTCACCTCGGCACAGGGGCCTGAGCCTTCCTCCGTCTTCTCCTCCTGATCCATCATGTCCCTGGACTCCAGTCACTTTTCTGCTGGCCTCTGCCCCGGCCCAGTGCNNN | benign | 295,239 |
Gene STXBP2 (syntaxin binding protein 2) variant at chromosome position 7638767 on chromosome 19: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Familial_hemophagocytic_lymphohistiocytosis_5'] | CTCTAAACCCTGAAGTACAGAAGGCAAGTGGGTCAAGATCCCAGGCCCAGACAGTGGCGGCCCGGTGGCATCGAGTGGGTGCCGTGTATCTTGCAGGCACAGAACCTCCCGGGGAAGATGGAGGGATTATTGCCCTGCGATCCTGCTTCGCACGCAAGCCAGGAAGTGTGTGTCTGAACTCCCATCTGTGAGCGTGTCGTCGAGGTGTGCACCTCCAGCGACTTCGTGCTCGGCAGCGCGGACGCACCTGCCCGTCCTCCCCGCCAGGGACTCAACTTCCTGGGCCTGGGCGAGAACCGACGGCGGGGAGGGGCCAGGTGCGCAGGGGGCGGGGACAGGGCCCGCGGGGCGGGGTCCACGTGGGTGACGCGCGGGGCCACGCCCCCACCTTGGGACACACCCGGAAGCGGCGGCGGCGCCCCTCGGGGAAGATGGCGCCCTCGGGGCTGAAGGCGGTGGTGGGGGAAAGTGAGTGCCTCTCCGGGGCCGGGCTCTGGCGTCCGGTGTGGGACGGGGGTCGGGGACGCACGGGCTCTGGGATCCTGGGTTTCATGGCGGCTGGGAGTTGGGGGCCGGGCTGGGCGTCCGAGCACCTGACCCTCGAGGGGGCGGGCGGGGACGGGTTCCCAGCTGGACGCCCCTGCTCTCCGGTGCCAGAACAGAACAAAATTGGGGGGCCGGACTCCGGGGACCCAAAGGGGACGGGTAGAGTGTGGCGGAGGCTGGGGCCCGGACTCCTGGGCCTCCTAGGGTGCCTGCCGGGGGAGGAGGGCACAGCTGGATGCCCACACTCTAGGATCTCTTAAGCCGGGCAAAGTTCAGGGGCTGGATTCTTGGGGCCTCCTAGGGCTCTGGTCAGCGACCCTAGGTGCTGTGAGCGCTCAGGGGACGTGTCCAGGCCCCACAGGGGTGGTGTAGGGGATGTCTTCCTCCTTGCCCCATTTCCAGGAGCGCCTTGCAGCTGGAGGACGCAGGCGTCCAGGCCTCACCGGCCCCGGTTCTTGGGGGAAGGGTGGAGGGCGCCTCTTCCTCCACCCCGGGGAGTTCCGGCCTCAGCTGCTCCTTCCGCCCTGGCCGTCTTGATAACAGTGGACATGACACAGTGGACGTGGCTGGGCGGGGCCACCCCGTTACTTCTCTCCACTCTCTCCTCTAGGCAGGGCGGTCTGTAGCTCAAACCCCTTTAATTGGGGGAGATTAGAAAAAAGTGATTCCATTTTACAGATGAGGAAACTGAGACCGGAGGTCAGTGGGATAGCCTCAGCTAGGCATGCCTCAGAGCTGGGAACCAGGGGTCCTACATTTTAGACCAGGTTGGGGGGACTGGCTGAAACCCTCACAGCAGGAATACTTGAGGTAGCAGGTGGGGAAGCCGAGAGCCTGGCGCTAGAGGCAGATAGAGCTGTAGATGATCCCGGTTCTCCTCTTTTCATTCACCTAAAACATGTTTATCGAGTGGCACCTTTTGCCCCAGCACTCTGCCACTTAGACACTCAGGATGCGTAGGTGAGTTACATGTTGCCTAAGAATCTGTTTCCCTGTCTGTAAATTGGGGGTGACCCCAGAAGCCAATTTGCAGAACTGGGGGCTAAAAATAAATGATTCCTGTGCCGTGTCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGAGGACTGCTTGAGGCCAAAAGTTTGAGACCAGCTTGGGCAACATAGCGAGACCCCATCTATACAGAAATAAAAATAAATTAGCTGTGGGTGGTACATGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAAGAGGATCGCTGGAGCCCAGGAGTTGGAGGCCGCAGTGAGTTATGATCACACCACTGCACTTTAGCCTAGGTGACAGAGTGAGATCCTCCTCTCTTAAAAAAAAAAAAAAAGTAAATGGGAATTAAGATGGGGGTTCAGCCCCAAGGCTGAGAAGGCTTGGGGCAGTGGTGGGACCAGAGAACCAGCATTCTGACCCCTCCCCTCCCTTCCCTGCAGAAATTCTGAGCGGAGTTATTCGGAGTGTCAAGAAGGATGGGGAGTGGAAGGTAGGGGTGAGGCAGATGGCTGGGTACCCAGAGGCAGCTCATCATCAGGCCTATGGGGAAGACCCTGAATGTGGGACCCCCAAGAACTGCCTGTCCACATGGGTGGAGTTGGGTGAATGGGTTCTGGGTCCTCCCACCCAGCCAGCCCTTGAAACTGCCCCTCCCACTGCCTTGGCCCCTTCTGGGGCCAGCTGTGGCCTCTTCCGCCTGCTCCTCCATCCATCTGTCCATCCATCTGGACAGGTGCTTATCATGGATCACCCAAGCATGCGCATCTTGTCTTCCTGCTGCAAAATGTCAGATATCCTGGCTGAGGGCATCACCAGTGAGTGAACGCGTCCCCAGTGAGATGGGACCTGAGCGTGGGAACCCCTGACTGTGCCCCTCTCCCAGGGTTCAGCCCTTGAGTGTAGGATCCCCTCAAATCGTCCAGAACTCCCAAGTACGCAGCTCCCTGCACGGACAGCCCGGATCATGTGACCAAATCCATTCTTAAACCTTGCAAGCTGACTGCGGGAGCCCATGGATTGCAGGCCTCCCCTGCAGCACTCCCTGGCTGCAGCCCCTTCCTGACCGTGCAGCTCCCTCGTGGAGCCCTGTGTGGGACTCCCAGGGTGGACTCTGGATGTGGGGTCCCAAGAATGCAGAGCCTTCTATGGGTGACCCCAGGTGGTGTCCCAGTCACTTTGCCATTGAGGGATAGGTGCTGAGGGAGCCTGTCCTCTCAGAACCTCAGTCTCCCTGTCTGTAAATTTGGGGAACCCAGTTGGCTGCACAACCCCTGCAGAACCCTGTCGTGTGGCTCTTAGCTGGTGGTCCCTAAGTGGGTTTCTCCTGCAGTCCCTCCTAAGCATCCACCCCTCCTCCCCAAGCCTCCAACCCCCCACACCTGAGACTCCCCACGTGGCCCTGCCTGGATGCCACCCACCTGTGTCCCTTCCTCTGTTCCTACTAGTTGTTGAAGACATCAACAAACGGCGGGAACCCATTCCCAGTCTGGAGGCCATTTATTTGCTGAGCCCCACGGAGAAGGTGCCTACATGAGTGAGCGTGTGTGTATGCGCGTGCATGCGTGTACATGTGCATGTGTGTGTATGTCTGCATGCATGTGATTGCATGTGTGCATGTGTATACGTGTGCATGTGTCCATGTGTATGTGTGTGCATGTGTGTGCATGTGTGTGTGCATCTGTGTATGCATGTGTGTGCGTGTTTGCATGTGTGTCTATGTATGTGTCTGTGTGCATGTGCATGTGTGTGCGTCTGTGTGTGCATTTGTGTGTATGTGTGTATGCGTGTGTGTCTGTGGGTCTGTGTGTGCATTTGTGTCTGTGCATGTGTGTATGCGTGTGTATGTATGTGTGTGTGCATCTGTGTGCATCTGTATGTGTGTGTGTGCGTCTGTCTGTGTGCATGTGTGTATGCGTGTGTATGTATGTGTCTGCGTCTGTGTGTGCGTCTGTGTGTATCTGTGTGTGCATGTGTGTATGCGTGTATATGTATGTGCATCTGTGTGCATGTGTCTATGTATGTGTGTGCATCTGTGTGTGCGTGTGTATGCGTGTGTGTATGCGTCTGTGCATGTGTGTATGCGTGTGTGTGCGCATCAGTGTCTGCATGTGTGTATATGTGTGTATGTATGTGTGCGCGCGCATCTGTGTGTGTGCATGTGTGTATGTATGTGTGTGCATCTCTGTGTGTGCATGTGTGTATGTGTGTGTGCATCTGTGTGTGTGTGCATGTGTGCATGCGTGTGTATGTGTGTGTGCGTGCGTGCATCTGTGTGTGTGCGCGTGTGCCCATGTGGGTGCGACACTAGTGTGCATTTGCACATATACATGTCCCCGTCCGTCCATGTTTGCACATGGTGGCAGATGGGGGGTGGCTGGGAGGCCTAGGCAGCCAATGAGCCTAGGTGTGCAGGCTCAGGCCCAGAGAGTGATCCACCTTCCCCAGTCGGTTCAGGCCCTGATCAAAGACTTCCAGGGGACCCCGACTTTCACCTACAAAGCGGCCCATATCTTCTTCACCGACAGTGAG | CTCTAAACCCTGAAGTACAGAAGGCAAGTGGGTCAAGATCCCAGGCCCAGACAGTGGCGGCCCGGTGGCATCGAGTGGGTGCCGTGTATCTTGCAGGCACAGAACCTCCCGGGGAAGATGGAGGGATTATTGCCCTGCGATCCTGCTTCGCACGCAAGCCAGGAAGTGTGTGTCTGAACTCCCATCTGTGAGCGTGTCGTCGAGGTGTGCACCTCCAGCGACTTCGTGCTCGGCAGCGCGGACGCACCTGCCCGTCCTCCCCGCCAGGGACTCAACTTCCTGGGCCTGGGCGAGAACCGACGGCGGGGAGGGGCCAGGTGCGCAGGGGGCGGGGACAGGGCCCGCGGGGCGGGGTCCACGTGGGTGACGCGCGGGGCCACGCCCCCACCTTGGGACACACCCGGAAGCGGCGGCGGCGCCCCTCGGGGAAGATGGCGCCCTCGGGGCTGAAGGCGGTGGTGGGGGAAAGTGAGTGCCTCTCCGGGGCCGGGCTCTGGCGTCCGGTGTGGGACGGGGGTCGGGGACGCACGGGCTCTGGGATCCTGGGTTTCATGGCGGCTGGGAGTTGGGGGCCGGGCTGGGCGTCCGAGCACCTGACCCTCGAGGGGGCGGGCGGGGACGGGTTCCCAGCTGGACGCCCCTGCTCTCCGGTGCCAGAACAGAACAAAATTGGGGGGCCGGACTCCGGGGACCCAAAGGGGACGGGTAGAGTGTGGCGGAGGCTGGGGCCCGGACTCCTGGGCCTCCTAGGGTGCCTGCCGGGGGAGGAGGGCACAGCTGGATGCCCACACTCTAGGATCTCTTAAGCCGGGCAAAGTTCAGGGGCTGGATTCTTGGGGCCTCCTAGGGCTCTGGTCAGCGACCCTAGGTGCTGTGAGCGCTCAGGGGACGTGTCCAGGCCCCACAGGGGTGGTGTAGGGGATGTCTTCCTCCTTGCCCCATTTCCAGGAGCGCCTTGCAGCTGGAGGACGCAGGCGTCCAGGCCTCACCGGCCCCGGTTCTTGGGGGAAGGGTGGAGGGCGCCTCTTCCTCCACCCCGGGGAGTTCCGGCCTCAGCTGCTCCTTCCGCCCTGGCCGTCTTGATAACAGTGGACATGACACAGTGGACGTGGCTGGGCGGGGCCACCCCGTTACTTCTCTCCACTCTCTCCTCTAGGCAGGGCGGTCTGTAGCTCAAACCCCTTTAATTGGGGGAGATTAGAAAAAAGTGATTCCATTTTACAGATGAGGAAACTGAGACCGGAGGTCAGTGGGATAGCCTCAGCTAGGCATGCCTCAGAGCTGGGAACCAGGGGTCCTACATTTTAGACCAGGTTGGGGGGACTGGCTGAAACCCTCACAGCAGGAATACTTGAGGTAGCAGGTGGGGAAGCCGAGAGCCTGGCGCTAGAGGCAGATAGAGCTGTAGATGATCCCGGTTCTCCTCTTTTCATTCACCTAAAACATGTTTATCGAGTGGCACCTTTTGCCCCAGCACTCTGCCACTTAGACACTCAGGATGCGTAGGTGAGTTACATGTTGCCTAAGAATCTGTTTCCCTGTCTGTAAATTGGGGGTGACCCCAGAAGCCAATTTGCAGAACTGGGGGCTAAAAATAAATGATTCCTGTGCCGTGTCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGAGGACTGCTTGAGGCCAAAAGTTTGAGACCAGCTTGGGCAACATAGCGAGACCCCATCTATACAGAAATAAAAATAAATTAGCTGTGGGTGGTACATGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAAGAGGATCGCTGGAGCCCAGGAGTTGGAGGCCGCAGTGAGTTATGATCACACCACTGCACTTTAGCCTAGGTGACAGAGTGAGATCCTCCTCTCTTAAAAAAAAAAAAAAAGTAAATGGGAATTAAGATGGGGGTTCAGCCCCAAGGCTGAGAAGGCTTGGGGCAGTGGTGGGACCAGAGAACCAGCATTCTGACCCCTCCCCTCCCTTCCCTGCAGAAATTCTGAGCGGAGTTATTCGGAGTGTCAAGAAGGATGGGGGTGGAAGGTAGGGGTGAGGCAGATGGCTGGGTACCCAGAGGCAGCTCATCATCAGGCCTATGGGGAAGACCCTGAATGTGGGACCCCCAAGAACTGCCTGTCCACATGGGTGGAGTTGGGTGAATGGGTTCTGGGTCCTCCCACCCAGCCAGCCCTTGAAACTGCCCCTCCCACTGCCTTGGCCCCTTCTGGGGCCAGCTGTGGCCTCTTCCGCCTGCTCCTCCATCCATCTGTCCATCCATCTGGACAGGTGCTTATCATGGATCACCCAAGCATGCGCATCTTGTCTTCCTGCTGCAAAATGTCAGATATCCTGGCTGAGGGCATCACCAGTGAGTGAACGCGTCCCCAGTGAGATGGGACCTGAGCGTGGGAACCCCTGACTGTGCCCCTCTCCCAGGGTTCAGCCCTTGAGTGTAGGATCCCCTCAAATCGTCCAGAACTCCCAAGTACGCAGCTCCCTGCACGGACAGCCCGGATCATGTGACCAAATCCATTCTTAAACCTTGCAAGCTGACTGCGGGAGCCCATGGATTGCAGGCCTCCCCTGCAGCACTCCCTGGCTGCAGCCCCTTCCTGACCGTGCAGCTCCCTCGTGGAGCCCTGTGTGGGACTCCCAGGGTGGACTCTGGATGTGGGGTCCCAAGAATGCAGAGCCTTCTATGGGTGACCCCAGGTGGTGTCCCAGTCACTTTGCCATTGAGGGATAGGTGCTGAGGGAGCCTGTCCTCTCAGAACCTCAGTCTCCCTGTCTGTAAATTTGGGGAACCCAGTTGGCTGCACAACCCCTGCAGAACCCTGTCGTGTGGCTCTTAGCTGGTGGTCCCTAAGTGGGTTTCTCCTGCAGTCCCTCCTAAGCATCCACCCCTCCTCCCCAAGCCTCCAACCCCCCACACCTGAGACTCCCCACGTGGCCCTGCCTGGATGCCACCCACCTGTGTCCCTTCCTCTGTTCCTACTAGTTGTTGAAGACATCAACAAACGGCGGGAACCCATTCCCAGTCTGGAGGCCATTTATTTGCTGAGCCCCACGGAGAAGGTGCCTACATGAGTGAGCGTGTGTGTATGCGCGTGCATGCGTGTACATGTGCATGTGTGTGTATGTCTGCATGCATGTGATTGCATGTGTGCATGTGTATACGTGTGCATGTGTCCATGTGTATGTGTGTGCATGTGTGTGCATGTGTGTGTGCATCTGTGTATGCATGTGTGTGCGTGTTTGCATGTGTGTCTATGTATGTGTCTGTGTGCATGTGCATGTGTGTGCGTCTGTGTGTGCATTTGTGTGTATGTGTGTATGCGTGTGTGTCTGTGGGTCTGTGTGTGCATTTGTGTCTGTGCATGTGTGTATGCGTGTGTATGTATGTGTGTGTGCATCTGTGTGCATCTGTATGTGTGTGTGTGCGTCTGTCTGTGTGCATGTGTGTATGCGTGTGTATGTATGTGTCTGCGTCTGTGTGTGCGTCTGTGTGTATCTGTGTGTGCATGTGTGTATGCGTGTATATGTATGTGCATCTGTGTGCATGTGTCTATGTATGTGTGTGCATCTGTGTGTGCGTGTGTATGCGTGTGTGTATGCGTCTGTGCATGTGTGTATGCGTGTGTGTGCGCATCAGTGTCTGCATGTGTGTATATGTGTGTATGTATGTGTGCGCGCGCATCTGTGTGTGTGCATGTGTGTATGTATGTGTGTGCATCTCTGTGTGTGCATGTGTGTATGTGTGTGTGCATCTGTGTGTGTGTGCATGTGTGCATGCGTGTGTATGTGTGTGTGCGTGCGTGCATCTGTGTGTGTGCGCGTGTGCCCATGTGGGTGCGACACTAGTGTGCATTTGCACATATACATGTCCCCGTCCGTCCATGTTTGCACATGGTGGCAGATGGGGGGTGGCTGGGAGGCCTAGGCAGCCAATGAGCCTAGGTGTGCAGGCTCAGGCCCAGAGAGTGATCCACCTTCCCCAGTCGGTTCAGGCCCTGATCAAAGACTTCCAGGGGACCCCGACTTTCACCTACAAAGCGGCCCATATCTTCTTCACCGACAGTGAGN | pathogenic | 295,250 |
Is chromosome 19, position 7643147, gene STXBP2 (syntaxin binding protein 2) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | benign | TCATACCTGTAATCCCAGCGCTGTGGGAGGCCAGGGCAGGAGGATCACTTGGGGCCAGGAGTTTGAGACCAGCCTGGGTACAGAGCAAGACCCCGTCTCTTAAAAAAAGAAAAAGAAAGAAATTAGCTTGGCGTGGTGGCGTGCACCTGTAGTCCTAGCTACTCATGGGGCTGGGGTGGGAGAGTCGCTTGAGCCCGGGAGGTCGAGGCTGCAGTGAGCTATGATTGCACTGCTGCCCTCCAGCCTGGGCGACAGAGCGAGATCCTGTCTCAAAAACATACATAAAGTAAAATTTTAAAAAGGGGAGGTACCCACAGAGTCCAAGGAGCTCTTGCCTTGAGTTCTATCCCACTAGGCCCTTGCAGGGGGCAGCGTAGAGCGCACCGCGGGGTTGTCCAGCCAGCTTAAGGGACACGGGCTGGGGTATTTATCCACTGACTCCTGCAGGCATGGGTTTAGGGTTGACCTGGGCCTGCCTCCAATTCGGCAAAGCAGGCTTCAGGGACCAGGGACGGCTCCCAGGAGGTGCAGGTGGCGGCAGCGGGAAGCGGGGCAGGTGTGCACCTGCAGCGGCAACCCTGGTGCTTCTGTCCCCTCCTCGCCCAGGTGTTCTCCCTCGATGCTCCCCACAGCACCTACAACCTCTACTGCCCCTTCCGGGCAGAGGAGCGCACGCGGCAGCTCGAGGTGCTGGCCCAGCAGATTGCCACGCTGTGCGCCACCCTGCAGGAGTACCCGGCCATCCGCTACCGCAAGTGGGGACCCCACCCAGCCCCACCCCGATGCCGACCCCCCCTTAACCGCGTGCAACACCTAACCTTTAACCTCTCTTGTGACCCCAGCCCCGGCCCTACCCTGGCCCCTGACTCTCACCTTCAAACCCATCCTTGACCCCATCCCCTGATGATGTCCCCCGTGTCTGACCTCCCCGCCAGGGGCCCAGAGGACACAGCCCAGTTGGCCCACGCCGTCCTGGCCAAGCTGAACGCCTTCAAGGCAGACACTCCCAGTCTGGGCGAGGTGAGGGGGCGTGCTTGGGAGGTGAGGGGCAGCCCCAACCGGCTCAGGGTCAGTGCCTCATTCCTGCCCTAAACCCCACCCCAGGGCCCAGAGAAAACCCGCTCCCAGCTGCTGATAATGGACCGGGCAGCTGACCCCGTGTCCCCACTACTGCATGAGCTCACGTTCCAGGCCATGGCGTATGATCTGCTGGACATAGAGCAGGACACATACAGGTCTGCAGACTTGGAACCCGTCCCCACCCTTGCCACTGACCTGGTTCCCCAGTCCTCAGCTCCCCTGACCCCCAGGCTCCCTCCTTCCTCCCCAGGTATGAGACCACCGGGCTGAGCGAGGCGCGGGAGAAGGCCGTCTTGCTGGACGAGGACGATGACTTGTGGGTGGAGCTTCGCCACATGCATATCGCAGATGTGTCCAAGTGCGTGCACACGGGGACCGGATCCCCCCCCCACCGCCCACTGTGGGCCTGGTAGCGGCCTTGGGATCCCTGGCTGCTGCCAAGTCTTTGGCCCTCATGAGCACCCCTCGTGTGACTCCAGACTGGCCTCCAATTTCACCCCACCTCTCCCTGTCCCCCCTGAGTGGGCTCACCCATGGCCTGTGGCTCCTCTCCCCTCACTCTCACCCCCGCCCACCCTCATGGCCAGGAAGGTCACGGAGCTCCTGAGGACCTTCTGTGAGAGCAAGAGGCTGACCACGGACAAGGTAGGGGCGGACCCAGGTCACCAAAGGCGCTGGTGGAAGGAAGCCCCCCTCCCCATGGGCGCAGGGCCACAGCCTGGATTTCGAGCCTGGACTGAGACCCAGGTGGGCACTGCCTGGCTTCGCCCCCCAATCCCTACCCTCTTCCCCCTACTTCCCCAGGCGAACATCAAAGACCTATCCCAGATCCTGAAAAAGATGCCGCAGTACCAGAAGGAGCTGAATAAGGTGTGCTCGGGTGGGCAGGGAGCGGGGACACCTCGGCCCCTCAACCCCATGCTCTGTCTGCGTTCTGCCTTGACTCAGCCTTTGTTATCCCCCAACCCCCACCCTGCACCCTGCAGTATTCTACGCACCTGCATCTAGCAGATGATTGTATGAAGCACTTCAAGGGCTCGGTGGAGAAGCTGTGTAGTGTGGAGCAGGTGGGGCAGGGCTTGCGGGGGGCAGGGGTGATGGTCCTGCCAAGGCGGGGTATTGGGGAGGGGCTGAACTGTAGAGATGGGGGGTTCTGGGGGAGGGGCAGGGCTTGTGGAGAGGTGGAGGGGCCTTGGAGAGAGGTGGGACCTGGTGGGGAAGGAGTGGGTCTTGTGGAGAAACGGTCCTAGGATGAGGGTGTGGCCTGTGCATAGGTGGATGGGGCTTGGAGAGGTCAGACTTGGGTGAGGGGCAGAGCCTTGGACAGGTGGTCCCAGGACAGGAATGTGGCCTATTCATAGGTGGGTGGGACCTTGGAGAGGTAGGCAGGGCCTTGGAGAGGTGCGACCTGGGAGAGGAATGGAGCCTTGGAGAGGTGGGACCTGGGTGAGGGGCAGAGCCTTGGAGAGGTGGGACCTGGGAGAGGAATGGAGCCTTGGAGAGGTGGGCCCTGGGAGAGGGGCGGAGCCTTGGAGAGGTGGGACCTGGGTGAGGGGCGGAGCCTTGGAGAGGTGGGACCTGGGTGAGGGGTGGAACCTTGGAGAGGTGGGACCTGGATGAGGGGTGGAACCTTGGAGGGGTGGGACCTGGGAGAGGGGTGGAGCCTTAAGAGAGGTGGGACCTGGGAGAGGGGCGGAGCCTTGGAGAGGTGGGACCTGAGTGAGGGGTGGGGCCTTGGAGAGGTAGGAGCTGGGAGACAGGTAGAGCCATGGAGAGGTGGGATCTGGGTGAGGCACGGGGCCTTGGAGAGGTGGGACCTGGGTGAGGGGTGGAACCTCGGAGAGGTGGGACCTGGGTGAGGGGTGGAGCCTTGGAGAGGTGGGACCTGGGTGAGGGGTGGAGCCTTGGAGAGCTGGGACCTGGGTGAGGGGTGGAGCCTTGGAGAGGTGGGACTTGGGTGAGGGGTGGAGCCTTGGAGAGGTGGGACCTGGGTGAGGGGTGGAGCCTCGGAGAGGTGGGACCTGGGTGAGGTGTGGAACCTCGGAGAGGTGGGACCTGGGTGAGGGGTGGAACCTCGGAGAGGTGGGACCTGGGTGAGGGGTGGAGCCTCGGAGAGCTGGGACCTGGGTGAGGGGTGGAGCCTTGGAGAGCTGGGACCTGGGTGAGGGGTGGAGCCTTGGAGAGGTAGTCTCAGGATAGTGGTGTGACCTGTGTGTAGGTGGGTGGGGCACTGGAAAGGTGGGACCTGGGTGAGGAGCAGGGCCTGTGGAGAGACTGTCCCTGGACAGGGGTGGGACCTTGAGAGACCTGGTGCTGAGATGAGGTAGGACCCAAATGTCCTCTTGCCGAGGATCCTGGGGATGTCCTTGGCCCGCCTCTCCCATCCCCTTCCCTGACACATAGCGGCCGGTGGACGGCTGACCCCATGCCCGCAGGACCTGGCCATGGGCTCCGACGCAGAGGGGGAGAAGATCAAGGACTCCATGAAGCTGATCGTTCCGGTGCTGCTGGACGCGGCGGTGCCCGCCTACGACAAGATCCGGGTCCTGCTGCTCTACATCCTCCTTCGGAATGGTGGGTGGGGGCTGCAGGGAGTTGGAACGTCCCCATTTGCCAGCGTCTCCCACGATCCTGGGAACTGCTGAACCCCACAGCTCTCCTTGGGTCATTTGCACTCACCGGGCTCACCAACCCCCACAGCTACCCCTCTGGACCCGGGAACCCTCCTCCATTGGCTTGGGGATTCCTCCACTGAGGTGAGGGCTCCCTGCTAACGTAGAAACCCTCACATCTGTGATTCCTATAGATGTGGGGCTCCCTCAGCTCATCTGGAGGAGCCCCTGATCTACCCCCTCCAGGTTTCCCACTCTTGCTCACACTAGCACAGGGTACTGAGGCCCTCCCCACTGCAAGGTTCTCTCATCAGAGTCCTGGGAGCTCCTCAGCCCACCCCAAACTCCCCTAAACCTGGGAGCTCACCTGGCCGCCGCCTCCACCCTGCCCATTCCCGTCCCCC | TCATACCTGTAATCCCAGCGCTGTGGGAGGCCAGGGCAGGAGGATCACTTGGGGCCAGGAGTTTGAGACCAGCCTGGGTACAGAGCAAGACCCCGTCTCTTAAAAAAAGAAAAAGAAAGAAATTAGCTTGGCGTGGTGGCGTGCACCTGTAGTCCTAGCTACTCATGGGGCTGGGGTGGGAGAGTCGCTTGAGCCCGGGAGGTCGAGGCTGCAGTGAGCTATGATTGCACTGCTGCCCTCCAGCCTGGGCGACAGAGCGAGATCCTGTCTCAAAAACATACATAAAGTAAAATTTTAAAAAGGGGAGGTACCCACAGAGTCCAAGGAGCTCTTGCCTTGAGTTCTATCCCACTAGGCCCTTGCAGGGGGCAGCGTAGAGCGCACCGCGGGGTTGTCCAGCCAGCTTAAGGGACACGGGCTGGGGTATTTATCCACTGACTCCTGCAGGCATGGGTTTAGGGTTGACCTGGGCCTGCCTCCAATTCGGCAAAGCAGGCTTCAGGGACCAGGGACGGCTCCCAGGAGGTGCAGGTGGCGGCAGCGGGAAGCGGGGCAGGTGTGCACCTGCAGCGGCAACCCTGGTGCTTCTGTCCCCTCCTCGCCCAGGTGTTCTCCCTCGATGCTCCCCACAGCACCTACAACCTCTACTGCCCCTTCCGGGCAGAGGAGCGCACGCGGCAGCTCGAGGTGCTGGCCCAGCAGATTGCCACGCTGTGCGCCACCCTGCAGGAGTACCCGGCCATCCGCTACCGCAAGTGGGGACCCCACCCAGCCCCACCCCGATGCCGACCCCCCCTTAACCGCGTGCAACACCTAACCTTTAACCTCTCTTGTGACCCCAGCCCCGGCCCTACCCTGGCCCCTGACTCTCACCTTCAAACCCATCCTTGACCCCATCCCCTGATGATGTCCCCCGTGTCTGACCTCCCCGCCAGGGGCCCAGAGGACACAGCCCAGTTGGCCCACGCCGTCCTGGCCAAGCTGAACGCCTTCAAGGCAGACACTCCCAGTCTGGGCGAGGTGAGGGGGCGTGCTTGGGAGGTGAGGGGCAGCCCCAACCGGCTCAGGGTCAGTGCCTCATTCCTGCCCTAAACCCCACCCCAGGGCCCAGAGAAAACCCGCTCCCAGCTGCTGATAATGGACCGGGCAGCTGACCCCGTGTCCCCACTACTGCATGAGCTCACGTTCCAGGCCATGGCGTATGATCTGCTGGACATAGAGCAGGACACATACAGGTCTGCAGACTTGGAACCCGTCCCCACCCTTGCCACTGACCTGGTTCCCCAGTCCTCAGCTCCCCTGACCCCCAGGCTCCCTCCTTCCTCCCCAGGTATGAGACCACCGGGCTGAGCGAGGCGCGGGAGAAGGCCGTCTTGCTGGACGAGGACGATGACTTGTGGGTGGAGCTTCGCCACATGCATATCGCAGATGTGTCCAAGTGCGTGCACACGGGGACCGGATCCCCCCCCCACCGCCCACTGTGGGCCTGGTAGCGGCCTTGGGATCCCTGGCTGCTGCCAAGTCTTTGGCCCTCATGAGCACCCCTCGTGTGACTCCAGACTGGCCTCCAATTTCACCCCACCTCTCCCTGTCCCCCCTGAGTGGGCTCACCCATGGCCTGTGGCTCCTCTCCCCTCACTCTCACCCCCGCCCACCCTCATGGCCAGGAAGGTCACGGAGCTCCTGAGGACCTTCTGTGAGAGCAAGAGGCTGACCACGGACAAGGTAGGGGCGGACCCAGGTCACCAAAGGCGCTGGTGGAAGGAAGCCCCCCTCCCCATGGGCGCAGGGCCACAGCCTGGATTTCGAGCCTGGACTGAGACCCAGGTGGGCACTGCCTGGCTTCGCCCCCCAATCCCTACCCTCTTCCCCCTACTTCCCCAGGCGAACATCAAAGACCTATCCCAGATCCTGAAAAAGATGCCGCAGTACCAGAAGGAGCTGAATAAGGTGTGCTCGGGTGGGCAGGGAGCGGGGACACCTCGGCCCCTCAACCCCATGCTCTGTCTGCGTTCTGCCTTGACTCAGCCTTTGTTATCCCCCAACCCCCACCCTGCACCCTGCACCCTGCAGTATTCTACGCACCTGCATCTAGCAGATGATTGTATGAAGCACTTCAAGGGCTCGGTGGAGAAGCTGTGTAGTGTGGAGCAGGTGGGGCAGGGCTTGCGGGGGGCAGGGGTGATGGTCCTGCCAAGGCGGGGTATTGGGGAGGGGCTGAACTGTAGAGATGGGGGGTTCTGGGGGAGGGGCAGGGCTTGTGGAGAGGTGGAGGGGCCTTGGAGAGAGGTGGGACCTGGTGGGGAAGGAGTGGGTCTTGTGGAGAAACGGTCCTAGGATGAGGGTGTGGCCTGTGCATAGGTGGATGGGGCTTGGAGAGGTCAGACTTGGGTGAGGGGCAGAGCCTTGGACAGGTGGTCCCAGGACAGGAATGTGGCCTATTCATAGGTGGGTGGGACCTTGGAGAGGTAGGCAGGGCCTTGGAGAGGTGCGACCTGGGAGAGGAATGGAGCCTTGGAGAGGTGGGACCTGGGTGAGGGGCAGAGCCTTGGAGAGGTGGGACCTGGGAGAGGAATGGAGCCTTGGAGAGGTGGGCCCTGGGAGAGGGGCGGAGCCTTGGAGAGGTGGGACCTGGGTGAGGGGCGGAGCCTTGGAGAGGTGGGACCTGGGTGAGGGGTGGAACCTTGGAGAGGTGGGACCTGGATGAGGGGTGGAACCTTGGAGGGGTGGGACCTGGGAGAGGGGTGGAGCCTTAAGAGAGGTGGGACCTGGGAGAGGGGCGGAGCCTTGGAGAGGTGGGACCTGAGTGAGGGGTGGGGCCTTGGAGAGGTAGGAGCTGGGAGACAGGTAGAGCCATGGAGAGGTGGGATCTGGGTGAGGCACGGGGCCTTGGAGAGGTGGGACCTGGGTGAGGGGTGGAACCTCGGAGAGGTGGGACCTGGGTGAGGGGTGGAGCCTTGGAGAGGTGGGACCTGGGTGAGGGGTGGAGCCTTGGAGAGCTGGGACCTGGGTGAGGGGTGGAGCCTTGGAGAGGTGGGACTTGGGTGAGGGGTGGAGCCTTGGAGAGGTGGGACCTGGGTGAGGGGTGGAGCCTCGGAGAGGTGGGACCTGGGTGAGGTGTGGAACCTCGGAGAGGTGGGACCTGGGTGAGGGGTGGAACCTCGGAGAGGTGGGACCTGGGTGAGGGGTGGAGCCTCGGAGAGCTGGGACCTGGGTGAGGGGTGGAGCCTTGGAGAGCTGGGACCTGGGTGAGGGGTGGAGCCTTGGAGAGGTAGTCTCAGGATAGTGGTGTGACCTGTGTGTAGGTGGGTGGGGCACTGGAAAGGTGGGACCTGGGTGAGGAGCAGGGCCTGTGGAGAGACTGTCCCTGGACAGGGGTGGGACCTTGAGAGACCTGGTGCTGAGATGAGGTAGGACCCAAATGTCCTCTTGCCGAGGATCCTGGGGATGTCCTTGGCCCGCCTCTCCCATCCCCTTCCCTGACACATAGCGGCCGGTGGACGGCTGACCCCATGCCCGCAGGACCTGGCCATGGGCTCCGACGCAGAGGGGGAGAAGATCAAGGACTCCATGAAGCTGATCGTTCCGGTGCTGCTGGACGCGGCGGTGCCCGCCTACGACAAGATCCGGGTCCTGCTGCTCTACATCCTCCTTCGGAATGGTGGGTGGGGGCTGCAGGGAGTTGGAACGTCCCCATTTGCCAGCGTCTCCCACGATCCTGGGAACTGCTGAACCCCACAGCTCTCCTTGGGTCATTTGCACTCACCGGGCTCACCAACCCCCACAGCTACCCCTCTGGACCCGGGAACCCTCCTCCATTGGCTTGGGGATTCCTCCACTGAGGTGAGGGCTCCCTGCTAACGTAGAAACCCTCACATCTGTGATTCCTATAGATGTGGGGCTCCCTCAGCTCATCTGGAGGAGCCCCTGATCTACCCCCTCCAGGTTTCCCACTCTTGCTCACACTAGCACAGGGTACTGAGGCCCTCCCCACTGCAAGGTTCTCTCATCAGAGTCCTGGGAGCTCCTCAGCCCACCCCAAACTCCCCTAAACCTGGGAGCTCACCTGGCCGCCGCCTCCACCCTGCCCATTCCC | benign | 295,276 |
Does the chromosome 19 mutation at position 8580654 within gene ADAMTS10 (ADAM metallopeptidase with thrombospondin type 1 motif 10) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | benign | TCATTGTAAAATGGGAACGTGGGTCCCCCCAGCAGAGCCTGGCCCAGGTACGTGTCAGCCTATGAGCTGGTCTTTGGGACACCAGCCAACCACCTGAGGCTCCTCTTGACATGTGAGGAAATGGCAGTTCTAATAGGTTGTTACTTCCCCACACCACCCAGCAAGGAGGTGGCCGAGGCAGGACCCGACCCTGGGAGACCCTGGGGGACCCATGTTCAGATCTATCTTTGGTCCAGGGCGATAAACCCGCATCCCCCTTGAAGATGTTAATATGCAGCGCCCCTAGTGGCCACAGCTGGGAAGGAGCCCGTCTCTGCTGGAATCTCCTGAGCGAGTTTGCAGAATTGACGGGCTTGGGGCATGCAATTCTCAGCAATGTCTCCAGGCACTCAAGAGTGAATATGAATGGGTAAGAGGACCCCACTTTGTTGGGGGCCATCAGGGGAGGCTTCTAGGAAGAGGCAACGTTTGTGCTGACACCGGCGAGTAAGCTGGAGTTAAAAAAGGTAAAGGGGCAGGAGCGTGCACCTGGCCATGCTAAGCGCTCAAGCAAAGGCCCAGATATGGGAAAACCATAGGGCAATTGAGGAAGTTCGGGGAGGCTGGTGTGGCTGGAGCATGCGGAGTGACGGAGAGTGTGATGGCCAGGGTGGCAGGTGCTAGACCGTGTGGCTTTAAGAGCCTCTGTGAGGGCCAGGCATGGTGGCTGATGCCTGTAATCCCAGAACTTTGGGAGGCTGAGGTGGGAGGATCGCTTGAGCCCAGGAGTTCCAGACCAGCTTGGGCAACATAGCAAGACCTCGTCTCTACAAAAAATTAAAAAATCAGCTAGGTGTGCTGTTGCACCTATAATCTCAGTTACTTGGCAGGGTAGGCAGGAGAATCGTTTAAGCCCAGGAGTTCAAGGCTGCAGTGAGCTGAGATCGTGCCACTGAACTCCAGCCTGGGCTACAGAGTGAGACCCTGTCTCAAAAAACAAAAACAAAAAAGCAAAACCCTTCCACGAGAAGCTGTTGTACTTTTCTCCTAAAATCCCTGGGTTCCTGTCTGCAATGTTAAAAGTCCCCTTCTGGCTGGGCACGGTGGCCCATGCCTGTAATCCCAGCACTCTGGGAGGCCGAGGCGGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAAAGTACAAAAAATTAGCTGGGCATGTTGGCGGGCGCCTGTAGTGCCAGCTACTCGGGAGGCTGAGGCGAGAATGGCATGAACCCAGGAGGCGGAGCTTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGCAACAGTGCAAGACTCCGTCTCAAAAAAAAAAAAAAATAAAAAAAAAAAATAAATAAATCAGCTGGGTGTGGTCGTGCACGCCTGTAGTCCCAGCTATTCAGAAGGTGGAAGTGGGAGGATCACTTGAGTCCAGGAGATCAAGGCTGCAGTGAGCTATGATAGGCATAGCTGGGCGACAGGGACCGTCTCAGGAAAAAAAAAAAAGAAGTCCCCTTTTGGCTGTTGGGTAGACCTGGGAGAATGGGTGGTCCTTTCCAGACCTGGGTGGGGGCTACTGGATGCACTGACACACACACACCGCAATTCGTAGAAATCTACACAAGACAGAACTTTATTGATGTAGGGCTTCCTGGCAGGAGTGTGTGGGCCCCAGGGCAGGGTCTGTAGCACCATGAGGGGGTGGCCTGGATGTCGGGGTGCCCCTGGGGCGGGCAGGGCAGAGGTTGGGGTGGATCCTCCCCCTAGTCAGGTCAGGGGAGGGTGTCAGGGAGGTGGTGCTACCCCCCCCCCTCCCATAGCAGACACAGATTCCCCCCCAGCTCGGAGTGGAGGGGTAGGGCAGTGCTGGGGGGCAGGGCACCGGCAGACCACCTCCCCACCCCTACTCTTCACAGTACATATTCCGATCAAAGGAGGGGGGGAGTGTTGGGGACTCCCTAAGGGTGGGTTCAAAGGGTGCTGGGGTGAACAGCTGTCCCCTCCCCAGACCCACCCTGGAGGGGGGGTCTCACTATGTGAACTGGAAGGGGCGGATGCTGAAGAGGGGCTCTGGGGGGATAGCCAGCCCCTCTCCATCCCCCCAGCCAGGGCCCTGCAGGGGTTCCCAATAAATAACTTCCGGCTCCGTCTCACCCTTCCCTCCCAGTTCCCGCCCCCCCGGGGCCCCCTCTGGCCGGCCCGCTGCAGGGCTGGCGGCGGAGACCCCGCCAGCTGTGGCTCCGGGTGCCGCGCGCCCCCTAGTGGCCATGGCAGGTTTTGCAGCACATCTGGCGGAAGTAGGCTCGGCTGCAGAACTGAAATTTGAGCACCAGGGGGCAGTAGGCGACCTTGTTCACATCCTTGCACTCTGCGGGGACGGGAGAAGGAAGGAAAAATCAGGTCTCAGCTGCCCTCCCCGCAGGGCTGCACACACGACCTGCAGTGCTTCCTGGCCAGTGACTTTCTGTGCCTTGGTTTCTTTCTTTTTAAATTTACTTTTTTTTTTTTTTTTTTTTTTTTTTTTTACAGATGTTATCTTGCTATGTTGACCAGGCTGGTCTCCACCTCTTGAGCTCAAGTGATCCTCTCACCTCAGCCTCCTAAGTAGTTGGGACTACAGGTGTGAGCAAACCACGCCTGACTTCTGTGCCTTAGTTTCCTCAACTATCAAAGGGGGCTTATAATAGCACCGATGTCACTAGGCTGTTTTGAGGATTTAAGAGAGAGAGTGTAGGGTTGGGGGCCAACACAGACACATTAGTAATGAGAAAAGGGCCGGGTACAGTGTATCATGCCTGTAATCCCAGCACTTTGGGAGACCAAGGCAGGAGGACTGCTTGAGCCCAGGAGTTTGAGACCAGCCTGGGCAACATAGTGAGAGCACTGCATCTACAAAAACTAATTAAAAGAAAAAAATAGGCTGGGCATGGTGGCTCATGCCTGTAATCTCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACTTCAGGTCGGGAGTTTGAAACCAGCCTGGCCAACGTGATCAAACCCCATCTCTACTAAAAATATAAAAATTAGCTGGGCGTGGTGGCGGGTGCCTGTAATCCCAGCTACTCGACAGCCTGAGGCAGGAGAATTGCCTGAACCCGGGAGGCAGAGGTTTCAGTGAGCCGCGATTGCACCACTGTACTCCAGCCTGGGAGACAGAGCGAGACTCTGTCACAAAACAAAACAAAAAAACAAAAAAACAAAAAAAAAAAAAAGGAAAAATTAGCCGGGTGTTGTGGCATGTGCCTGTAGTCCCAGCTACTCAAGAGGCTGAGGCTGGAGGATCGCTTGAGCCCAGGAGGTGGAGGCTGCAGTGAGCTATGATGGCACCACTGCACTCTAGCCTGGGCGACAGAGCGAGACCCTGTCAAACAAACAAACAAACAAACAAACAAACACGACCCAATAAAACAAAAGAAGACAAATATTCCCTTTCCTTTCCATTGTTCCTTTTCATAGCACCCAGGAAAAAATGTCCATTTGGGGCTGTAATCCTCACTCGTTTTCTTTTTTAATAAAGTGAAGATAGGCCGGGCATGGTGGCTCACGCCTGTAATCACAGCACTTTGGGAGGCTGAGTCGGGCGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCGGGCGTGGTGGCAGGCGCCTGTAGTCCCAGCTATTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCTGGGAGGTGGAGCTTGCAGTGAGCGGAGATTGCATCACTGCATTCCAGCCTGGGCGACAGTGAGACTCCGTCTCAAAACAAAGCAAAACAAAAACAAACAAAACAAAACCTGAAGCTCTTGAGTCCCAGCTGAGTGGGTGAGTCAGGGTATTTTTCAGAACATTGACTATTTTGTGTGATCATGATGTCTGTTGATGACTATGGATGGATATGAGCTTCCATCTAGCGGCCAGTGATTTATGGCAGGACCAGGGGCGAATTAAAAGCTACAGATGGATTTTTTTTTTTTTTTTGGTCGCCCAGGCTGGAG | TCATTGTAAAATGGGAACGTGGGTCCCCCCAGCAGAGCCTGGCCCAGGTACGTGTCAGCCTATGAGCTGGTCTTTGGGACACCAGCCAACCACCTGAGGCTCCTCTTGACATGTGAGGAAATGGCAGTTCTAATAGGTTGTTACTTCCCCACACCACCCAGCAAGGAGGTGGCCGAGGCAGGACCCGACCCTGGGAGACCCTGGGGGACCCATGTTCAGATCTATCTTTGGTCCAGGGCGATAAACCCGCATCCCCCTTGAAGATGTTAATATGCAGCGCCCCTAGTGGCCACAGCTGGGAAGGAGCCCGTCTCTGCTGGAATCTCCTGAGCGAGTTTGCAGAATTGACGGGCTTGGGGCATGCAATTCTCAGCAATGTCTCCAGGCACTCAAGAGTGAATATGAATGGGTAAGAGGACCCCACTTTGTTGGGGGCCATCAGGGGAGGCTTCTAGGAAGAGGCAACGTTTGTGCTGACACCGGCGAGTAAGCTGGAGTTAAAAAAGGTAAAGGGGCAGGAGCGTGCACCTGGCCATGCTAAGCGCTCAAGCAAAGGCCCAGATATGGGAAAACCATAGGGCAATTGAGGAAGTTCGGGGAGGCTGGTGTGGCTGGAGCATGCGGAGTGACGGAGAGTGTGATGGCCAGGGTGGCAGGTGCTAGACCGTGTGGCTTTAAGAGCCTCTGTGAGGGCCAGGCATGGTGGCTGATGCCTGTAATCCCAGAACTTTGGGAGGCTGAGGTGGGAGGATCGCTTGAGCCCAGGAGTTCCAGACCAGCTTGGGCAACATAGCAAGACCTCGTCTCTACAAAAAATTAAAAAATCAGCTAGGTGTGCTGTTGCACCTATAATCTCAGTTACTTGGCAGGGTAGGCAGGAGAATCGTTTAAGCCCAGGAGTTCAAGGCTGCAGTGAGCTGAGATCGTGCCACTGAACTCCAGCCTGGGCTACAGAGTGAGACCCTGTCTCAAAAAACAAAAACAAAAAAGCAAAACCCTTCCACGAGAAGCTGTTGTACTTTTCTCCTAAAATCCCTGGGTTCCTGTCTGCAATGTTAAAAGTCCCCTTCTGGCTGGGCACGGTGGCCCATGCCTGTAATCCCAGCACTCTGGGAGGCCGAGGCGGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAAAGTACAAAAAATTAGCTGGGCATGTTGGCGGGCGCCTGTAGTGCCAGCTACTCGGGAGGCTGAGGCGAGAATGGCATGAACCCAGGAGGCGGAGCTTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGCAACAGTGCAAGACTCCGTCTCAAAAAAAAAAAAAAATAAAAAAAAAAAATAAATAAATCAGCTGGGTGTGGTCGTGCACGCCTGTAGTCCCAGCTATTCAGAAGGTGGAAGTGGGAGGATCACTTGAGTCCAGGAGATCAAGGCTGCAGTGAGCTATGATAGGCATAGCTGGGCGACAGGGACCGTCTCAGGAAAAAAAAAAAAGAAGTCCCCTTTTGGCTGTTGGGTAGACCTGGGAGAATGGGTGGTCCTTTCCAGACCTGGGTGGGGGCTACTGGATGCACTGACACACACACACCGCAATTCGTAGAAATCTACACAAGACAGAACTTTATTGATGTAGGGCTTCCTGGCAGGAGTGTGTGGGCCCCAGGGCAGGGTCTGTAGCACCATGAGGGGGTGGCCTGGATGTCGGGGTGCCCCTGGGGCGGGCAGGGCAGAGGTTGGGGTGGATCCTCCCCCTAGTCAGGTCAGGGGAGGGTGTCAGGGAGGTGGTGCTACCCCCCCCCCTCCCATAGCAGACACAGATTCCCCCCCAGCTCGGAGTGGAGGGGTAGGGCAGTGCTGGGGGGCAGGGCACCGGCAGACCACCTCCCCACCCCTACTCTTCACAGTACATATTCCGATCAAAGGAGGGGGGGAGTGTTGGGGACTCCCTAAGGGTGGGTTCAAAGGGTGCTGGGGTGAACAGCTGTCCCCTCCCCAGACCCACCCTGGAGGGGGGGGTCTCACTATGTGAACTGGAAGGGGCGGATGCTGAAGAGGGGCTCTGGGGGGATAGCCAGCCCCTCTCCATCCCCCCAGCCAGGGCCCTGCAGGGGTTCCCAATAAATAACTTCCGGCTCCGTCTCACCCTTCCCTCCCAGTTCCCGCCCCCCCGGGGCCCCCTCTGGCCGGCCCGCTGCAGGGCTGGCGGCGGAGACCCCGCCAGCTGTGGCTCCGGGTGCCGCGCGCCCCCTAGTGGCCATGGCAGGTTTTGCAGCACATCTGGCGGAAGTAGGCTCGGCTGCAGAACTGAAATTTGAGCACCAGGGGGCAGTAGGCGACCTTGTTCACATCCTTGCACTCTGCGGGGACGGGAGAAGGAAGGAAAAATCAGGTCTCAGCTGCCCTCCCCGCAGGGCTGCACACACGACCTGCAGTGCTTCCTGGCCAGTGACTTTCTGTGCCTTGGTTTCTTTCTTTTTAAATTTACTTTTTTTTTTTTTTTTTTTTTTTTTTTTTACAGATGTTATCTTGCTATGTTGACCAGGCTGGTCTCCACCTCTTGAGCTCAAGTGATCCTCTCACCTCAGCCTCCTAAGTAGTTGGGACTACAGGTGTGAGCAAACCACGCCTGACTTCTGTGCCTTAGTTTCCTCAACTATCAAAGGGGGCTTATAATAGCACCGATGTCACTAGGCTGTTTTGAGGATTTAAGAGAGAGAGTGTAGGGTTGGGGGCCAACACAGACACATTAGTAATGAGAAAAGGGCCGGGTACAGTGTATCATGCCTGTAATCCCAGCACTTTGGGAGACCAAGGCAGGAGGACTGCTTGAGCCCAGGAGTTTGAGACCAGCCTGGGCAACATAGTGAGAGCACTGCATCTACAAAAACTAATTAAAAGAAAAAAATAGGCTGGGCATGGTGGCTCATGCCTGTAATCTCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACTTCAGGTCGGGAGTTTGAAACCAGCCTGGCCAACGTGATCAAACCCCATCTCTACTAAAAATATAAAAATTAGCTGGGCGTGGTGGCGGGTGCCTGTAATCCCAGCTACTCGACAGCCTGAGGCAGGAGAATTGCCTGAACCCGGGAGGCAGAGGTTTCAGTGAGCCGCGATTGCACCACTGTACTCCAGCCTGGGAGACAGAGCGAGACTCTGTCACAAAACAAAACAAAAAAACAAAAAAACAAAAAAAAAAAAAAGGAAAAATTAGCCGGGTGTTGTGGCATGTGCCTGTAGTCCCAGCTACTCAAGAGGCTGAGGCTGGAGGATCGCTTGAGCCCAGGAGGTGGAGGCTGCAGTGAGCTATGATGGCACCACTGCACTCTAGCCTGGGCGACAGAGCGAGACCCTGTCAAACAAACAAACAAACAAACAAACAAACACGACCCAATAAAACAAAAGAAGACAAATATTCCCTTTCCTTTCCATTGTTCCTTTTCATAGCACCCAGGAAAAAATGTCCATTTGGGGCTGTAATCCTCACTCGTTTTCTTTTTTAATAAAGTGAAGATAGGCCGGGCATGGTGGCTCACGCCTGTAATCACAGCACTTTGGGAGGCTGAGTCGGGCGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCGGGCGTGGTGGCAGGCGCCTGTAGTCCCAGCTATTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCTGGGAGGTGGAGCTTGCAGTGAGCGGAGATTGCATCACTGCATTCCAGCCTGGGCGACAGTGAGACTCCGTCTCAAAACAAAGCAAAACAAAAACAAACAAAACAAAACCTGAAGCTCTTGAGTCCCAGCTGAGTGGGTGAGTCAGGGTATTTTTCAGAACATTGACTATTTTGTGTGATCATGATGTCTGTTGATGACTATGGATGGATATGAGCTTCCATCTAGCGGCCAGTGATTTATGGCAGGACCAGGGGCGAATTAAAAGCTACAGATGGATTTTTTTTTTTTTTTTGGTCGCCCAGGCTGGA | benign | 295,667 |
Mutation at chromosome 19, position 8585059, within ADAMTS10 (ADAM metallopeptidase with thrombospondin type 1 motif 10): benign or pathogenic? If pathogenic, indicate the disease(s). | benign | TGGGCTCAGGCAATCTTTCCAGTTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCTCGCCCGGCCTGGGTGGATCATTTTATTGCATCTCCCTTCTGGGGCACCCCTCAAGTGAATATATCATTTACATCCCGTGACAGATAAAGAAACAAAAACACAGAGGTGGAAGATGAACCCAGGTAGTTTGGTTGCAGTGCCCAGACTAAGGAATTAATTGTTCTCTATCAAAAATAAATTTATGGACCTGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCAGATCACCTGAGGTCAGGAATTCGAGACCAGCCTGGCCAATATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGTCATGGTGGCACGTGCCTGTAATCCCAGCTGCTCAGGAGGCTGAGGCAGGAGAATCACTTGTACCCAGGAGGTGGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACTACAGCCTGGGTGACAGAGTGAGACTTTGTCTCAAAACAAGAAAAAAAAAAATTTACAGCCAGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATTACTTGAGGCCAGGAGTTCAAGACCAGCCTGGGCTACATAGAAAAACCCCGTCTCTATCAAAGAATACAAGAATACAAAAATTAACTGGGCACTGTGGCTCTTGCCTGTAGTCCTTGGGGAGACTTGGGGCTGAGACAGGAGGATCGCTTGAGCCTGGGAGGTGGAGGTTGCAGTGAGCCGAGATCGCTCTACTGCACTCCAACGTGGGTGACAAAGTGAGTCCCGGTCTCAAAAATAAATAAGTAAATAAGGCTGGGCATGGTGGCTCACGCCTTTAATCCCAGCACTTTGGGAGGCCAAGGCCGGCGGATCACAAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCGGGCACCTGTACTCCCAGCTACTCAGCAGGCTGAGGCAGGAGAATCGATTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCGAGATCAGGTCACTGCACTCCAGCCTGGGTGACAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAGTAAATAAAAAAATAAAAAAAATTACCTAGGCAGAAAAAAATGTGTATACTTAAAAGCAGTGGTTCTCAAGGGAAGTGATCGATTTTGACCCCCAGGGGACATTGGGCAATGTCTGGAGACGTTTTTAGTTGTCATAACTTGGGAGAAGGCTGCTACTGGCACCCAGTGGGTAGAAGCCGGGGATGCTGCTGAACATCTTACAGGCTGGCACAAATCCCAGCACTTTGGGAGGCTGAGGTGGGAGGATCGCTTGAGCCCAGGAGTTGGAGACCAGCCTGAGTAACACAGCAAGACCCCATCTCTCCAAAAAAGAAAAACAAACAAACAAAAAACCCTACAATGTGCTGGACAGCTCCCCACGGCAATCATCTAGCTCAAAATGTCACTAGTGCCTGAGGTTGAAAAACCGATTTAAAGGAAAAATATTCAGGAAATTGTGCTACAGGTGGAGATGAATAGGTACAGGTTATGAAAGTGACTGGGGAAATGTCACAAGTTTGGGTGCACAGAAGGGTCAGGTGCCTGAAACACTCAGCATACAGTGGCACTTAATAAATGCTTGCAGGGAGGGGATGGTGAAGGATGGCCTGGCAGAGACACAGCAATGCATTTCCGAGGTTCCAGAAGTTCTAGGATGAAGTCAGGACCCCCAATGCCCTCTGTGGCTGCCTCTGGCCAGGACCCTCCTGGCGCACCCTGGCTGGTCACCCACATACCTTCAGGGCCGTCCCCGGGGGTTGGGCTGTCGCACTTGGCCTCACACTGCTGCGTGGTGGGCGGCCGCAGGGCCTCCGTGCACTCGTGCGACGCCTGGCCCGTGTGGCTGGTGCAGCGCACCGAGCGCTGCCGCTGCCCGACGCCGCACTGTGCAGAGCACTGCGAGGGGGCACCACTCAGTTGCTGCCCCGCAGCCCCTGCCCTGGCCCCCACCCCTCTGGGGCGCGCCCTCCTACCTCACCCCACTCGCCAGCCACCCAGCGGGCCGGGGGGCAGCGGCGCAAGTTGCAGCGCATGGTGGCCGGTGGCTTGGCGGCGGGTGAGCAGTGCGCCGGGGGCAGCGTGGCGCGGTGGTCTGCGCTCTTGCAAAGGACCACGCGGTGGCGGAGGCCCGGCCCGCAGCTGGGGGTGCACTGCAGTTGGAAGGGGCGTTTCGTGCTCAGGGTGCTGCCCCAGTGCGAAGTGAGGAGGGGACAGCTAACCTGGAGACCGCGCAGAGGCGTCTCCGTGGACACCCCACCTGGGCATCCCAGTGGGCGCGAAGGAAGGGGGCGGCTGACCTCAGACCAGTCGAGGGCCGCCCACTCCGGAGGGCAAGTGGGGCCGTGGCAGGCCTCCAGTACAGGTGGGCGCGGCTGCGGGCATGCGCTGTCGTCCAGCGCCTTCTCCTCCGCGGCAGAGACGCGGCGCTGGCACACGACCGAGCGGCTGCGCACGCCTGCATCGCAGCTGCGGCTGCAGAGCGACCAGTTCCCTACAACCCAGCTGTAAGAGATGAAGGGGTCTGAGCAAGTAAGCAGGGCAGGGGGTCCCAACACAACAGCAGGGGGCACTATAGCCTACCCCCACCCTTCCAATCACCCAGCCTCATATGGAAACTGGCACCAGGCACCTCCACATTCCACACTTGGGGCATCGTTAGCCTGCACCCAGACTGGGGGCAGAGAGGTGCATTACCCTAAGGAGAAATAAATCTTTGGACAATGCGAGTGACCAGGCAGCGCCATCATTCTGACTCCAGGGCCATGCAGCTTTGACCGCCACCTTGGGGGCACTATTACCTTGGACTCCCCCATAACTCCTATAGAACCATCACTGCAGCACTCGGCCCACTGTCACTCCGACTCTGCACTAATCTGCTCCCCACCCCCCTGGAGCACTCGCTCTTGACTCCAGGGAGTACTCTCCTCTCACCCTGAGCAACACTGCCCCCTGGCGGCACTCACTCTGGAGGGCAAGGCTCCGTGTTGCAGGCGCGCTGCCTTTTGGGCAGCTTGCTGTGGGCACTGCAGTAGTGGGGGGCGACCGCGGAGCTGTCCAGCTGGTTGCGGCACTCCACCGCCTGCACCTGGCTACCTGGAGGGGAGGGTGAGAGGCCTGCTCAGCCCCTCCCGGCCCAGAGAACCTCAGCCCAGGTATCTTGTGCCTTCCCCCACCCCCGGCCTCACCGCCTGCACACTGGGCCGAGCACTTGGTCCAGGGCGCATAGTGCCAGGAGTAGGGGGGCAGCGAGTCACGGGCGATGGGGGCATTGAAGCGGTAGCGGAGGGCAGGCAGCTCGGTCCGGGCCAGCACCTGGAGAAAGGGGGCGGCAGCCAGTGGAAGGATCGCATGGAGTCTCTAATTCCAAAGGCTGCACCTTGCCCCCAGTCTCCCTGTTACCATGACGATGAGAGATGCATTAATCGGTCCCAGGGCTTCGAGGCTCTGGACCTGGTCTGGCCCCTGTCGCAGTTGAAAGGTGGTCCCAGCTAGAGGCAGACGGTGGGGCTGGGGGGTCCCAGGCAGCCCCTCCAGCAGCAGGGACTCCTGGTCTCCCTTCAGGGCTGGGGGACGATGCAGGGTTCAGAATTCTAGTCATGCTGAAACCGCCCTCCCCACTGACCCCTAATCCTCATCCCCTCCCCACCATCTGCTCACCCAAGTGACTGAGAGAGAGGTTCAGATCCTGGATGAAGATGTGGACGGAGCCTTTGGGAATCCAGACGACATCCTCGTACCCTGAACAGCAGAGCTCAGATGTCACCCACTTGGCATGTCCCCAACACCTGCCTGCCTCCCCTGTCCCCGGCCCATGAGGATAACAGCTAACTATTACTGCGCTAAACACACATCTAACTGCACCCCTGCCCCACCCTTGTGAACCAGGTGTTTCATTATCCCCATTTTAGGGCTGACAAAACTGAGGCTCAGAGAAGCTAAGGAACTTGA | TGGGCTCAGGCAATCTTTCCAGTTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCTCGCCCGGCCTGGGTGGATCATTTTATTGCATCTCCCTTCTGGGGCACCCCTCAAGTGAATATATCATTTACATCCCGTGACAGATAAAGAAACAAAAACACAGAGGTGGAAGATGAACCCAGGTAGTTTGGTTGCAGTGCCCAGACTAAGGAATTAATTGTTCTCTATCAAAAATAAATTTATGGACCTGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCAGATCACCTGAGGTCAGGAATTCGAGACCAGCCTGGCCAATATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGTCATGGTGGCACGTGCCTGTAATCCCAGCTGCTCAGGAGGCTGAGGCAGGAGAATCACTTGTACCCAGGAGGTGGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACTACAGCCTGGGTGACAGAGTGAGACTTTGTCTCAAAACAAGAAAAAAAAAAATTTACAGCCAGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATTACTTGAGGCCAGGAGTTCAAGACCAGCCTGGGCTACATAGAAAAACCCCGTCTCTATCAAAGAATACAAGAATACAAAAATTAACTGGGCACTGTGGCTCTTGCCTGTAGTCCTTGGGGAGACTTGGGGCTGAGACAGGAGGATCGCTTGAGCCTGGGAGGTGGAGGTTGCAGTGAGCCGAGATCGCTCTACTGCACTCCAACGTGGGTGACAAAGTGAGTCCCGGTCTCAAAAATAAATAAGTAAATAAGGCTGGGCATGGTGGCTCACGCCTTTAATCCCAGCACTTTGGGAGGCCAAGGCCGGCGGATCACAAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCGGGCACCTGTACTCCCAGCTACTCAGCAGGCTGAGGCAGGAGAATCGATTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCGAGATCAGGTCACTGCACTCCAGCCTGGGTGACAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAGTAAATAAAAAAATAAAAAAAATTACCTAGGCAGAAAAAAATGTGTATACTTAAAAGCAGTGGTTCTCAAGGGAAGTGATCGATTTTGACCCCCAGGGGACATTGGGCAATGTCTGGAGACGTTTTTAGTTGTCATAACTTGGGAGAAGGCTGCTACTGGCACCCAGTGGGTAGAAGCCGGGGATGCTGCTGAACATCTTACAGGCTGGCACAAATCCCAGCACTTTGGGAGGCTGAGGTGGGAGGATCGCTTGAGCCCAGGAGTTGGAGACCAGCCTGAGTAACACAGCAAGACCCCATCTCTCCAAAAAAGAAAAACAAACAAACAAAAAACCCTACAATGTGCTGGACAGCTCCCCACGGCAATCATCTAGCTCAAAATGTCACTAGTGCCTGAGGTTGAAAAACCGATTTAAAGGAAAAATATTCAGGAAATTGTGCTACAGGTGGAGATGAATAGGTACAGGTTATGAAAGTGACTGGGGAAATGTCACAAGTTTGGGTGCACAGAAGGGTCAGGTGCCTGAAACACTCAGCATACAGTGGCACTTAATAAATGCTTGCAGGGAGGGGATGGTGAAGGATGGCCTGGCAGAGACACAGCAATGCATTTCCGAGGTTCCAGAAGTTCTAGGATGAAGTCAGGACCCCCAATGCCCTCTGTGGCTGCCTCTGGCCAGGACCCTCCTGGCGCACCCTGGCTGGTCACCCACATACCTTCAGGGCCGTCCCCGGGGGTTGGGCTGTCGCACTTGGCCTCACACTGCTGCGTGGTGGGCGGCCGCAGGGCCTCCGTGCACTCGTGCGACGCCTGGCCCGTGTGGCTGGTGCAGCGCACCGAGCGCTGCCGCTGCCCGACGCCGCACTGTGCAGAGCACTGCGAGGGGGCAGGGGGCACCACTCAGTTGCTGCCCCGCAGCCCCTGCCCTGGCCCCCACCCCTCTGGGGCGCGCCCTCCTACCTCACCCCACTCGCCAGCCACCCAGCGGGCCGGGGGGCAGCGGCGCAAGTTGCAGCGCATGGTGGCCGGTGGCTTGGCGGCGGGTGAGCAGTGCGCCGGGGGCAGCGTGGCGCGGTGGTCTGCGCTCTTGCAAAGGACCACGCGGTGGCGGAGGCCCGGCCCGCAGCTGGGGGTGCACTGCAGTTGGAAGGGGCGTTTCGTGCTCAGGGTGCTGCCCCAGTGCGAAGTGAGGAGGGGACAGCTAACCTGGAGACCGCGCAGAGGCGTCTCCGTGGACACCCCACCTGGGCATCCCAGTGGGCGCGAAGGAAGGGGGCGGCTGACCTCAGACCAGTCGAGGGCCGCCCACTCCGGAGGGCAAGTGGGGCCGTGGCAGGCCTCCAGTACAGGTGGGCGCGGCTGCGGGCATGCGCTGTCGTCCAGCGCCTTCTCCTCCGCGGCAGAGACGCGGCGCTGGCACACGACCGAGCGGCTGCGCACGCCTGCATCGCAGCTGCGGCTGCAGAGCGACCAGTTCCCTACAACCCAGCTGTAAGAGATGAAGGGGTCTGAGCAAGTAAGCAGGGCAGGGGGTCCCAACACAACAGCAGGGGGCACTATAGCCTACCCCCACCCTTCCAATCACCCAGCCTCATATGGAAACTGGCACCAGGCACCTCCACATTCCACACTTGGGGCATCGTTAGCCTGCACCCAGACTGGGGGCAGAGAGGTGCATTACCCTAAGGAGAAATAAATCTTTGGACAATGCGAGTGACCAGGCAGCGCCATCATTCTGACTCCAGGGCCATGCAGCTTTGACCGCCACCTTGGGGGCACTATTACCTTGGACTCCCCCATAACTCCTATAGAACCATCACTGCAGCACTCGGCCCACTGTCACTCCGACTCTGCACTAATCTGCTCCCCACCCCCCTGGAGCACTCGCTCTTGACTCCAGGGAGTACTCTCCTCTCACCCTGAGCAACACTGCCCCCTGGCGGCACTCACTCTGGAGGGCAAGGCTCCGTGTTGCAGGCGCGCTGCCTTTTGGGCAGCTTGCTGTGGGCACTGCAGTAGTGGGGGGCGACCGCGGAGCTGTCCAGCTGGTTGCGGCACTCCACCGCCTGCACCTGGCTACCTGGAGGGGAGGGTGAGAGGCCTGCTCAGCCCCTCCCGGCCCAGAGAACCTCAGCCCAGGTATCTTGTGCCTTCCCCCACCCCCGGCCTCACCGCCTGCACACTGGGCCGAGCACTTGGTCCAGGGCGCATAGTGCCAGGAGTAGGGGGGCAGCGAGTCACGGGCGATGGGGGCATTGAAGCGGTAGCGGAGGGCAGGCAGCTCGGTCCGGGCCAGCACCTGGAGAAAGGGGGCGGCAGCCAGTGGAAGGATCGCATGGAGTCTCTAATTCCAAAGGCTGCACCTTGCCCCCAGTCTCCCTGTTACCATGACGATGAGAGATGCATTAATCGGTCCCAGGGCTTCGAGGCTCTGGACCTGGTCTGGCCCCTGTCGCAGTTGAAAGGTGGTCCCAGCTAGAGGCAGACGGTGGGGCTGGGGGGTCCCAGGCAGCCCCTCCAGCAGCAGGGACTCCTGGTCTCCCTTCAGGGCTGGGGGACGATGCAGGGTTCAGAATTCTAGTCATGCTGAAACCGCCCTCCCCACTGACCCCTAATCCTCATCCCCTCCCCACCATCTGCTCACCCAAGTGACTGAGAGAGAGGTTCAGATCCTGGATGAAGATGTGGACGGAGCCTTTGGGAATCCAGACGACATCCTCGTACCCTGAACAGCAGAGCTCAGATGTCACCCACTTGGCATGTCCCCAACACCTGCCTGCCTCCCCTGTCCCCGGCCCATGAGGATAACAGCTAACTATTACTGCGCTAAACACACATCTAACTGCACCCCTGCCCCACCCTTGTGAACCAGGTGTTTCATTATCCCCATTTTAGGGCTGACAAAACTGAGGCTCAGAGAAGCTAAGG | benign | 295,674 |
Variant chromosome 19, position 10138609, gene DNMT1 (DNA methyltransferase 1): benign or pathogenic? Disease(s)? | benign | AAATAGCTGGGATTATAGGCGTGCGACACCACGCCCGGCTAATTTTTGTAGTTTTAATAGAGATGGGGTTTCACCATGTTGGGCAGGCTGATCTCGAGCTCCTGATCTCAAGTGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGAGGTGAGCCATCGTGCCTGACCTGCTTTTATTATTTATTTATTGTTTTTTTTTTTTCTTTTTAGAGACAGGGTCTCACTCTGTCTCCCAGGCTGGAGTGCAATGGCACAATCACAGCTCACTGTAGCCTCCTCAACCTCCCAGGCTCAAGTGATCCTCCCGCCTTGGTTTCCCAAAGTGCTGGGATTATAGGTGTGGGCCATGAACCCAGCCTGCTTTTACTACTCAACATGGTCAGCAGCTACCTTCTCTGGGACACCCAGGCTTGGTGTGTCTGTGCCCTGCCCTGGCCTCCAGGTTCACAGGCCAAAGGCCCAGGGCTCTGCCTTCCTTCCCCTCAGCCCACCGGGAACCACAACTTACAGGACCCACCTTCCACGCAGGAGCAGACCCCACGGAGGGCCCCAGAGCTGCTGCGGCCGTTCTTCCTGTCATGGTGGGTATACCGCAGCTTCCTGGCCATGGTGCCGTCTGAGAGCCGCACCTCGATGTTGGGCAGATCGCGCCAGTCTGACCCTGGGGCCAAGGGGATGTGCCGCATGCGGGCAGCCACCAATGCACTCATGTCCTGAAAGAGTGTGGGGGGCCCAGCTGTCACCTCATGTGAGCAGCATCCGAGCATCCATGGTGGGCTGGGAGCTGGGAACACCATGGTGACCAGGAAGCCCCCTGGGGCTCACGCCCATCGGGAAAGAGACAGTCAGGGATATCGCACTTGGCTCGAGGCCACGGCAGGGACCTGAGGCAGCGCAGGTGTAGGAGAGCGTGGGAATCTAAGCTGAGCCTTTAGGGTGGGGGAAGGGGAGTGGTGCCAGGGGATGGTGAAAGGGCTGGTCTTGGCATCCTGGGAAAACATGCGGGGAGAGGCAGCAAGGGGGAAGGCAGTGGTGGGTGGGCAGTGGCTTGACACCATTCCAGACCAAGTCCAGGACTGCGGGAGCTCTGACACTTCCCATGACCATGCAAGAGAGACCAGGGGTCACACAAAGGCTGAGGACTCGGGAGGAGGAGCCTGGGATCAGATTCCATGTCTCCCCTGAGTCTTGGGCAGGCTGACTGTTCCCACGAGGCTGCTGGGCTGGGCCTCGAGGAGGAGCCGCTCTGTCAGGGTGCCATTACCTTACAGATGTGGTCCCTGAGGATGGGCTGGTACTGTGCGCCCCGGAGCTGCCTCTGGAACCAGGACTGAGGCTCCCCGTTGTAGGAGATCTCCAGTGCCGAGGCTCCATTCCGCACCTCCGGCAGGTCGGACATCGTGTCTCGCACCGTGATGGTCCGGAAAGGACCCGAGCTCAACCTGCAACAGAGGAGGAGGTCAACACCTCTGGAGATGCACGCAGCAGCTGTCCCCTCATCACAGGTGCCACCCCCTGCCTGCTCAGATGGCCTTCTCCCGAGATCACAGCACTGCCCGAGGTCACATGGGTGGCAGTGTGCCTGGATGCCATCTGGAAGGGGGGATGGGGCTATGGCGTGGGCTTTGTGGATGACCACAGCCAAGCATGCGGCTGGCCGCTCTGCACATGCTATCTACTAGGGAAGCAGATGATGCAGGGTCAGAACTGGAGACCACAGGTGGCAGAGTGCCATGTGGCAGAGCACCGTGTGGCAGGGCAGATGCTGTACCATCCTCTCCTCCCCAAGCCTCACCAGGGAGTACTCACGGGCCCCATGAGCTACTGAGGCCTGCTCGGCAGTGTGTGGAGGAGCGACGGGGGCCACCTACCTGGTTATGTTGCTCACAAACTTCTTGTCATCCACCACCACGCTCAGCTGGCAGGCCCGGGGAGCAAACACGTGCAGTGGCTCCGGGAACAGAGGGAGCTTCTCTCCAGGGGCCGCGGCCAGGATGATGGCCCGCCTCCTAGTCTGGGCCACGCCGTACTGACCGGCCTGTGGGGGAGAAGGACGGACAACCCCACCGTCAGTGGGACACTCCCAACTGGACTGGCCAGACCCAGGCCCAGGGTCAGCAGCCTGAGTCGGGAGTGGCTGGCCAATGCGGAGTGCACTTGCAGAAATCCCCAGTTACCTCAGCAGGCGTGCTCCTGGTCAGAGGAGTTTGGAGCAGATAAAGAACAAAAGCAGCTGAGCCCAGGGGACAGCCACTGGGGAAGGTGGGAGCAAACCCTGCGGGGAAGTCCGGCCAGCTCTGAAAGCACTGCAAGGGCCCCAAGGTCTTAGCACTCGGGGAGAACACTGGAGACCAGGAGCCCTGTCGCTTCCCTGATGGCTGTGGTCACAAGGACAGAGAACGTGGCTGCAACAAGTCTTGTCTGGTGAGCCTGAGTCGCCCTGAGGCTGAGCTAGGGGACCGGGTAGCCAAGTGCTTGCCCACTTAGGCAGACATCCTGTGCTAGCATCTGGATAGCTGTTTCATTTTTAATTATGCCCTCAATTGCTGAGCTGATACAGAGAGGATGGGGGATGCTTTTCAGATAAGGCCTGGGCCCCACAGACTATGTCCATCCCTGTCCCTGCAGACACAGCCACCTGGAGTGCAACCCTCGGCCATCTGTGGGGGTTTGTGTGCGCAGTTACCCAGAGCAAAACTGTCTTTTAAACCAATCGAACAGCTGCCGCCTACACATGGCTCTGCGCACCTCACTTCCCCTCCCGCTCTGTGCAGACTCAGCCATTCCACAGTGCTCCATGGTGGGCTGCTCACCCTTCCCCATCGAGGGAAAGGAGCCAGGAGCTGCATGGCGAGAAGCCCATTGTAGCCAGCCCTCCCAGGCATGTTCGAGAACACAGCTCAAGAGACACTAGCGGTGGACTTGCTGGGGGCCGGCTGAGCACGCATCTCCCCTGACTCCGCCAGTGGGACAGAGCACCATGCCAGCCTCTGCTGCCTGGATGGCAGGCCTATGCCATTGAACCCTGCCTTCAGTAAGGGATGGCTGGCTGCTGGCCGGGTCACGTGCTGGCCACATCTGTCTGCCCGCCCCAGCCCCAGGGCCCACCTGCAGCACGCCGAAGGTGCACTGATAGCCCATGCGGACCAGGCAGCGGAGGGTGAGCTTCAGGACCATGGAGCGCTTGAAGGAGACAAAGTTCCTGACATTCTCCAGGAGGAAGAACCGGGGCCGGTAGTAGTCGCAGTAGCTGTAGGGGGCAGGAGAGACTGCAGGAGTCACCTCCACAGACAGAGGGAAGAAACGACCCACTGTGCCGGAAGCCCCTCACGAATGTTATCAAAGTCTCTCCCTGGTGAGAGCTGAGCTGTGAGCTTCCGGGGGGCAGAGGCCTCAGTGCAGGGCGAAAATGACCACTGCTGACATGCGGCACAGCCCCGGGCCGTCTGGCAACACTGGGGGGCTTCTACCCGTTTACCTGAGGAAGGAAACCACCAGAGAGTTTTTGAACTTGGAGTAGGTGCGCGAATTGAAGCGGTTCATGCCGCTGAAGCCCTGGCAGGGCGGCCCGCCGCACAGCATCTCCACGTCTCCCTTCTGGGGCAGCCGCTGGCCGCGGGAGTTGGTGGTCTCCCCAGCCATGACCAGCTTCAGCAGGATGTTGCAGTCCTCTGTGAACACTGTGGAGCCGGGGTTGTTCAGCCGGAACGCCTGGGCCGCAGGGTCCCACATCTCGATGGCCCACAGCGTGTCAGAGATGCCTGGCAGATCAAGCACGAAGCCATGCTTTCAACTCTCCAGAAGATTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAAGCTCTGCCTCCCAGGTTCAAGCGATTCTCCCACCTCAGCCTCCTGAGTAGCTGGGACTACAGGCACACACCACCACGCCCAGCTAATTTTTGTATTCTTATTAGAGACGGGGTTTCACCATGTTGGCCAGGATGGTCTCAAACTCCTGACCTCATGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCGCCAC | AAATAGCTGGGATTATAGGCGTGCGACACCACGCCCGGCTAATTTTTGTAGTTTTAATAGAGATGGGGTTTCACCATGTTGGGCAGGCTGATCTCGAGCTCCTGATCTCAAGTGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGAGGTGAGCCATCGTGCCTGACCTGCTTTTATTATTTATTTATTGTTTTTTTTTTTTCTTTTTAGAGACAGGGTCTCACTCTGTCTCCCAGGCTGGAGTGCAATGGCACAATCACAGCTCACTGTAGCCTCCTCAACCTCCCAGGCTCAAGTGATCCTCCCGCCTTGGTTTCCCAAAGTGCTGGGATTATAGGTGTGGGCCATGAACCCAGCCTGCTTTTACTACTCAACATGGTCAGCAGCTACCTTCTCTGGGACACCCAGGCTTGGTGTGTCTGTGCCCTGCCCTGGCCTCCAGGTTCACAGGCCAAAGGCCCAGGGCTCTGCCTTCCTTCCCCTCAGCCCACCGGGAACCACAACTTACAGGACCCACCTTCCACGCAGGAGCAGACCCCACGGAGGGCCCCAGAGCTGCTGCGGCCGTTCTTCCTGTCATGGTGGGTATACCGCAGCTTCCTGGCCATGGTGCCGTCTGAGAGCCGCACCTCGATGTTGGGCAGATCGCGCCAGTCTGACCCTGGGGCCAAGGGGATGTGCCGCATGCGGGCAGCCACCAATGCACTCATGTCCTGAAAGAGTGTGGGGGGCCCAGCTGTCACCTCATGTGAGCAGCATCCGAGCATCCATGGTGGGCTGGGAGCTGGGAACACCATGGTGACCAGGAAGCCCCCTGGGGCTCACGCCCATCGGGAAAGAGACAGTCAGGGATATCGCACTTGGCTCGAGGCCACGGCAGGGACCTGAGGCAGCGCAGGTGTAGGAGAGCGTGGGAATCTAAGCTGAGCCTTTAGGGTGGGGGAAGGGGAGTGGTGCCAGGGGATGGTGAAAGGGCTGGTCTTGGCATCCTGGGAAAACATGCGGGGAGAGGCAGCAAGGGGGAAGGCAGTGGTGGGTGGGCAGTGGCTTGACACCATTCCAGACCAAGTCCAGGACTGCGGGAGCTCTGACACTTCCCATGACCATGCAAGAGAGACCAGGGGTCACACAAAGGCTGAGGACTCGGGAGGAGGAGCCTGGGATCAGATTCCATGTCTCCCCTGAGTCTTGGGCAGGCTGACTGTTCCCACGAGGCTGCTGGGCTGGGCCTCGAGGAGGAGCCGCTCTGTCAGGGTGCCATTACCTTACAGATGTGGTCCCTGAGGATGGGCTGGTACTGTGCGCCCCGGAGCTGCCTCTGGAACCAGGACTGAGGCTCCCCGTTGTAGGAGATCTCCAGTGCCGAGGCTCCATTCCGCACCTCCGGCAGGTCGGACATCGTGTCTCGCACCGTGATGGTCCGGAAAGGACCCGAGCTCAACCTGCAACAGAGGAGGAGGTCAACACCTCTGGAGATGCACGCAGCAGCTGTCCCCTCATCACAGGTGCCACCCCCTGCCTGCTCAGATGGCCTTCTCCCGAGATCACAGCACTGCCCGAGGTCACATGGGTGGCAGTGTGCCTGGATGCCATCTGGAAGGGGGGATGGGGCTATGGCGTGGGCTTTGTGGATGACCACAGCCAAGCATGCGGCTGGCCGCTCTGCACATGCTATCTACTAGGGAAGCAGATGATGCAGGGTCAGAACTGGAGACCACAGGTGGCAGAGTGCCATGTGGCAGAGCACCGTGTGGCAGGGCAGATGCTGTACCATCCTCTCCTCCCCAAGCCTCACCAGGGAGTACTCACGGGCCCCATGAGCTACTGAGGCCTGCTCGGCAGTGTGTGGAGGAGCGACGGGGGCCACCTACCTGGTTATGTTGCTCACAAACTTCTTGTCATCCACCACCACGCTCAGCTGGCAGGCCCGGGGAGCAAACACGTGCAGTGGCTCCGGGAACAGAGGGAGCTTCTCTCCAGGGGCCGCGGCCAGGATGATGGCCCGCCTCCTAGTCTGGGCCACGCCGTACTGACCGGCCTGTGGGGGGAGAAGGACGGACAACCCCACCGTCAGTGGGACACTCCCAACTGGACTGGCCAGACCCAGGCCCAGGGTCAGCAGCCTGAGTCGGGAGTGGCTGGCCAATGCGGAGTGCACTTGCAGAAATCCCCAGTTACCTCAGCAGGCGTGCTCCTGGTCAGAGGAGTTTGGAGCAGATAAAGAACAAAAGCAGCTGAGCCCAGGGGACAGCCACTGGGGAAGGTGGGAGCAAACCCTGCGGGGAAGTCCGGCCAGCTCTGAAAGCACTGCAAGGGCCCCAAGGTCTTAGCACTCGGGGAGAACACTGGAGACCAGGAGCCCTGTCGCTTCCCTGATGGCTGTGGTCACAAGGACAGAGAACGTGGCTGCAACAAGTCTTGTCTGGTGAGCCTGAGTCGCCCTGAGGCTGAGCTAGGGGACCGGGTAGCCAAGTGCTTGCCCACTTAGGCAGACATCCTGTGCTAGCATCTGGATAGCTGTTTCATTTTTAATTATGCCCTCAATTGCTGAGCTGATACAGAGAGGATGGGGGATGCTTTTCAGATAAGGCCTGGGCCCCACAGACTATGTCCATCCCTGTCCCTGCAGACACAGCCACCTGGAGTGCAACCCTCGGCCATCTGTGGGGGTTTGTGTGCGCAGTTACCCAGAGCAAAACTGTCTTTTAAACCAATCGAACAGCTGCCGCCTACACATGGCTCTGCGCACCTCACTTCCCCTCCCGCTCTGTGCAGACTCAGCCATTCCACAGTGCTCCATGGTGGGCTGCTCACCCTTCCCCATCGAGGGAAAGGAGCCAGGAGCTGCATGGCGAGAAGCCCATTGTAGCCAGCCCTCCCAGGCATGTTCGAGAACACAGCTCAAGAGACACTAGCGGTGGACTTGCTGGGGGCCGGCTGAGCACGCATCTCCCCTGACTCCGCCAGTGGGACAGAGCACCATGCCAGCCTCTGCTGCCTGGATGGCAGGCCTATGCCATTGAACCCTGCCTTCAGTAAGGGATGGCTGGCTGCTGGCCGGGTCACGTGCTGGCCACATCTGTCTGCCCGCCCCAGCCCCAGGGCCCACCTGCAGCACGCCGAAGGTGCACTGATAGCCCATGCGGACCAGGCAGCGGAGGGTGAGCTTCAGGACCATGGAGCGCTTGAAGGAGACAAAGTTCCTGACATTCTCCAGGAGGAAGAACCGGGGCCGGTAGTAGTCGCAGTAGCTGTAGGGGGCAGGAGAGACTGCAGGAGTCACCTCCACAGACAGAGGGAAGAAACGACCCACTGTGCCGGAAGCCCCTCACGAATGTTATCAAAGTCTCTCCCTGGTGAGAGCTGAGCTGTGAGCTTCCGGGGGGCAGAGGCCTCAGTGCAGGGCGAAAATGACCACTGCTGACATGCGGCACAGCCCCGGGCCGTCTGGCAACACTGGGGGGCTTCTACCCGTTTACCTGAGGAAGGAAACCACCAGAGAGTTTTTGAACTTGGAGTAGGTGCGCGAATTGAAGCGGTTCATGCCGCTGAAGCCCTGGCAGGGCGGCCCGCCGCACAGCATCTCCACGTCTCCCTTCTGGGGCAGCCGCTGGCCGCGGGAGTTGGTGGTCTCCCCAGCCATGACCAGCTTCAGCAGGATGTTGCAGTCCTCTGTGAACACTGTGGAGCCGGGGTTGTTCAGCCGGAACGCCTGGGCCGCAGGGTCCCACATCTCGATGGCCCACAGCGTGTCAGAGATGCCTGGCAGATCAAGCACGAAGCCATGCTTTCAACTCTCCAGAAGATTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAAGCTCTGCCTCCCAGGTTCAAGCGATTCTCCCACCTCAGCCTCCTGAGTAGCTGGGACTACAGGCACACACCACCACGCCCAGCTAATTTTTGTATTCTTATTAGAGACGGGGTTTCACCATGTTGGCCAGGATGGTCTCAAACTCCTGACCTCATGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCGCCA | benign | 295,850 |
Regarding the variant at chromosome 19 and position 10160070, affecting gene DNMT1 (DNA methyltransferase 1): benign or pathogenic? If pathogenic, what are the associated illness(es)? | benign | GTGGACAGAAGGCATGTGACTTCTGGAAAGTGTCCTCCAGGCCACCATCCACCCTCCAGGAACGAATCTATGATAGATCTCAACTTAGGGAGGAAGCTGAGACACTCAGGACTCTGGCAGCCCCAGCCCCAGGCTCCCCCAAGCCTTTGTCCCTGGTGAAGGCCAGAGTGAGGCCCTCGGGCATGGTTGCCAGCTCTGCCCACCACAGCACACCTCACTCACACCAGCAGGCAGAGGTGTGTGGCCCTGCTTTGGGCCAGGCCTCGGGGGGCTAGCGGTTGCTGGTGGACGCAACAGCATCTTGATCTAGATAGAAGGATCCCATAGAAGGAGAGGGAGGGGAACAACCATCAGCCAAGCACGGGGAACGTGTGGGTGCCCTCCCAGTGGGTACAGGAACCGCTGCCTGGGGGTGCTTCCAACAGGGGTCCCCAAGGCACTTCCCCCTCCTCTTCACAGAGAGGGAAAATACCACCCAGGCCTAAAAGGAGGCAGGGCCGTTCCTGGAGCTGAGGCATTTCCCACGAAGAACAAGGTGAAGCCCTGGAGGGTAACTGCACCCGCAGGGAGAGGGAGCAAAATGGGGCTGGGGATGCCTGAGAGCACAGGGCCTCTGCCCACTCAAGAGCTGACGTGAGCCTCGGTGAAGGTACGGGCCGGACGCCAGGCACCTTCCCTCAGAGGACAGGAGAGTCAGTGCTGAGGCCTGCAAGGCCCTGTGTGGCCCAGCCCCAACCCAGCAACCACCACACCAGACTCACCATTCACCTTCCACAGCTGGCACAGGCCCCTCCGAGCCCTGGTAATGGTGTCCCCTTCTACCTAGGGTGCCCCACCCCGGCCATCCCCTCGGCCTCTTCTCTCACAGGCCATCAAGGTCTTTACTGAAAATCATTACCTCTCCCGTCTTCACAGAACTTCCTCCTCCCACTTATTCTCTCTGCATGTCACCAGGCTTTTAAAATCTGTCGTGGCTGTCACTACCCGACAGGTATCACCCATTTCTGGCTCCGTGAAGGCAGGACCTGAGCAGCTACATCCACGACACCTAGATCACTGGTACCTAGCACAGAGTAGGCCTTCATCTGAGCGTGTGACCCTCAGGATGTGGGCAGAATGGAGGGGTAATATGTGTAGTGTAAAAACCCAAAAACCAAACCAAAAATCAGCAAAGCTCTATTGTCCCTTCATCAGCTTTCCACGTGGCTCTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAATGCAGTGGCACCACCTCGGCTCACTGCAGCCTCCGCCTCCAGAGTTCAAGAAATTCTCCTGCCTAAGCCTCTCGAGTAGTTGGGATTACAGTCGCGTACCACCACACCTGGCTACTTTTTGTATTTTCGGTAGGTTTCGCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTGAAGTGATCTGCTCACCTCGGCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCACCGCGCCCAGCCCTCCACGGTGGCTCTTATCCACGAAGTGTTAGCTTAAGACATGTTGCAGGTCAGGCACTAAAAAACATCACCAGAATCGTGAGCCCGCAGGCACCTCTGGGGATGTGCCTCCTTCCACGAAGCAAACATGCACACGAAAGTGCACTTACCTGAAGCAGGTCAGTTTGTGCTGGGGAAGCGCCTCATAACTCTCAAAGCCAGACTCGTTGGCATCAAAGATGGACAGCTTCTCATTTGTCAGCATCTGTGGCTCATCCACCTGAAGGACACGGGGCTGGTGAGCAGTGGGACAAGGGACAGGCAGAGGAAGGCTGGGAAGAGAGCTGTACGTACCGCGTCTGGTGGGTGCTGCCCATATTTGAGGTCAGGGTCGTCCAGGTACTGCCCGCACTGAATGCACTTGGGAGGGTGGGTCTGTGGGAGCAGGAACACAGATGATGGCACTCAGAGAGCAGCTCCCAGCCGCCTCGTGAGCGCCGCCACCGGCTTTATTCCCGGCAGATGTTTACCTTGGAGTTCATGACTGTTTTGGCGCGAGCCATTTTTTTCTCCGTTCTGGGGGAAAAAAAAAAATCACAAGATCGTTTGTTTAATTGTTTCAGAAAATATCAAAATCGCCCCTGTGAGGTTTCTGCCTGAGGTGCCTGTGGCACAGGGAGGCACCGGCTGTGGCAGTGAGGCCCAGGCGCGTGGTCACAGTGGCTCTTCACCGCAGGGGCATCCTGCCTGACGCACCTTGGTCCTATGTTCACCAACCCGATCCAAAATGAGCCTAAGGTTGCTCTGGCAATTACTGAAACCCCTTCCCTTTTGTTCTAGAACCATCATTTTAACATTACCATCTGCTTTCGATAATGTCAAGAATAAATTCTTACGGTTCTTTGGGGGTCGTTTTGCGTCTCTTCTCCTCCTACACAGGGAAAACAAAAGAGGATTAAAGGCTAAGAGAGTGTTTTACACCCAGATAGTGCTTCGGTGTTAAGAACTTTGTATAAGTGATTATCATAAAACAGAGAGAAGGGGAGGGAGGCAGTGAGAGGGCCAGCAGGTGAGCTCTGACTCACTCTACCATCTAAAGTCATAGAATACAAAATCTTATAGTCAGGCCCAGCACAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCACACAGATGACTGGAGGTCAGGAGTTCCAGACCAGCCTGGCCAACATGGCGAAATCACGTCTCTACCAAAAATACAAAGATTAGCCAGGCGGGCACTTGTAATCTCAGATACTCAGAAGGCTGAGGCAGAAGAATTGCTTGAACCCGAGACGTAGAGGTTGCAGTAAGCAGAGATCATGCCACTGCATTCCAGCCTGGGCGACAGAGTGAGTGAGACTCCATCTCAAAATAAATGAATAAATAAATCTCATAACCAAAGACTTCCTGAAAAGATTTAGAGGAAAAGCCAATTTTTTAAAACCTTAGCTTTCCTGTGTAAGTGGACACCTCAAGGTAAACAAATAATTGGCCAGGCACAGGGCCGGGCGCGATGGCTCACGCCTGTAATCCCAGCACTTTGGGAGACCGAGGCGGATGGATCACGAGATCAAGAGATTGAGACCATCCTCGCCAAGATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGTTGGGCGCGGTGGCGCATGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATAGCTTGAACCAGGGAGACAGAGGTTGCAGTGAGCCGATGTCGCACCACTGTACTCCAGCCTGGCGGCAGAGCGAGACTCTGTCTCAAAAAACAAATACATAAGTAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAACTGGCCAGGCACAGTGGCCCATGCCTGTAATTCCAGCACTTGAAGAAGCCCAGGTGGGAGGACTGCTTGAGCACAGGAGCTCAAGACCAGCCTGGGCAACACAGTAAAACCCTGTCTCTACAAAAATAGAAAGTTAACTGGGTGTAGTGCCATCTGCCTGTAGTCCCAGCTACCTTGAAGGCCCAGGTGGGAGGATTGCTTCAGCCCAGGAGTTTGCGGCTATGGTAGCTATGACTGTACCACTGCACTCCAGCCTCGACAAGAGTGAGACCCTGTCTCAAAAATAAATACTAAAATGTAAAGGTAAGCAAACAATTGATGAGGGGGTATACAGACCGAGTCATGTCCCCTGCAAAATTCATATGTTAAGACTAACCTGCTATGTGACTGTATTTGGATGTAGAGTCTTTAAGAGACAATTATGGTTAAATGAGGTAATAAAGGTGGGGCCCCATCCAATAAGACCAATGTCCTTGTATTTTTTGTTGTTGGTTTTGAGACAGAGTCTTGCTGTGTCCCCAGCCTGGAGTGCAATGGTGTGATCTCGGCTCACTGCAACCTCTACCTCCTGGGTTCAAGTGACTCTCCTGCCTCAGCTTCCCAAGCAGCTGGGATTACAGGCCCCTATCACCACAACTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGTCCAGGCTGGTTTCAAACTCCTGACCTCAGGTGATGCGCCTGCCTTGGCCTCCCAAAGTGCTGAAAAGAC | GTGGACAGAAGGCATGTGACTTCTGGAAAGTGTCCTCCAGGCCACCATCCACCCTCCAGGAACGAATCTATGATAGATCTCAACTTAGGGAGGAAGCTGAGACACTCAGGACTCTGGCAGCCCCAGCCCCAGGCTCCCCCAAGCCTTTGTCCCTGGTGAAGGCCAGAGTGAGGCCCTCGGGCATGGTTGCCAGCTCTGCCCACCACAGCACACCTCACTCACACCAGCAGGCAGAGGTGTGTGGCCCTGCTTTGGGCCAGGCCTCGGGGGGCTAGCGGTTGCTGGTGGACGCAACAGCATCTTGATCTAGATAGAAGGATCCCATAGAAGGAGAGGGAGGGGAACAACCATCAGCCAAGCACGGGGAACGTGTGGGTGCCCTCCCAGTGGGTACAGGAACCGCTGCCTGGGGGTGCTTCCAACAGGGGTCCCCAAGGCACTTCCCCCTCCTCTTCACAGAGAGGGAAAATACCACCCAGGCCTAAAAGGAGGCAGGGCCGTTCCTGGAGCTGAGGCATTTCCCACGAAGAACAAGGTGAAGCCCTGGAGGGTAACTGCACCCGCAGGGAGAGGGAGCAAAATGGGGCTGGGGATGCCTGAGAGCACAGGGCCTCTGCCCACTCAAGAGCTGACGTGAGCCTCGGTGAAGGTACGGGCCGGACGCCAGGCACCTTCCCTCAGAGGACAGGAGAGTCAGTGCTGAGGCCTGCAAGGCCCTGTGTGGCCCAGCCCCAACCCAGCAACCACCACACCAGACTCACCATTCACCTTCCACAGCTGGCACAGGCCCCTCCGAGCCCTGGTAATGGTGTCCCCTTCTACCTAGGGTGCCCCACCCCGGCCATCCCCTCGGCCTCTTCTCTCACAGGCCATCAAGGTCTTTACTGAAAATCATTACCTCTCCCGTCTTCACAGAACTTCCTCCTCCCACTTATTCTCTCTGCATGTCACCAGGCTTTTAAAATCTGTCGTGGCTGTCACTACCCGACAGGTATCACCCATTTCTGGCTCCGTGAAGGCAGGACCTGAGCAGCTACATCCACGACACCTAGATCACTGGTACCTAGCACAGAGTAGGCCTTCATCTGAGCGTGTGACCCTCAGGATGTGGGCAGAATGGAGGGGTAATATGTGTAGTGTAAAAACCCAAAAACCAAACCAAAAATCAGCAAAGCTCTATTGTCCCTTCATCAGCTTTCCACGTGGCTCTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAATGCAGTGGCACCACCTCGGCTCACTGCAGCCTCCGCCTCCAGAGTTCAAGAAATTCTCCTGCCTAAGCCTCTCGAGTAGTTGGGATTACAGTCGCGTACCACCACACCTGGCTACTTTTTGTATTTTCGGTAGGTTTCGCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTGAAGTGATCTGCTCACCTCGGCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCACCGCGCCCAGCCCTCCACGGTGGCTCTTATCCACGAAGTGTTAGCTTAAGACATGTTGCAGGTCAGGCACTAAAAAACATCACCAGAATCGTGAGCCCGCAGGCACCTCTGGGGATGTGCCTCCTTCCACGAAGCAAACATGCACACGAAAGTGCACTTACCTGAAGCAGGTCAGTTTGTGCTGGGGAAGCGCCTCATAACTCTCAAAGCCAGACTCGTTGGCATCAAAGATGGACAGCTTCTCATTTGTCAGCATCTGTGGCTCATCCACCTGAAGGACACGGGGCTGGTGAGCAGTGGGACAAGGGACAGGCAGAGGAAGGCTGGGAAGAGAGCTGTACGTACCGCGTCTGGTGGGTGCTGCCCATATTTGAGGTCAGGGTCGTCCAGGTACTGCCCGCACTGAATGCACTTGGGAGGGTGGGTCTGTGGGAGCAGGAACACAGATGATGGCACTCAGAGAGCAGCTCCCAGCCGCCTCGTGAGCGCCGCCACCGGCTTTATTCCCGGCAGATGTTTACCTTGGAGTTCATGACTGTTTTGGCGCGAGCCATTTTTTTCTCCGTTCTGGGGGAAAAAAAAAATCACAAGATCGTTTGTTTAATTGTTTCAGAAAATATCAAAATCGCCCCTGTGAGGTTTCTGCCTGAGGTGCCTGTGGCACAGGGAGGCACCGGCTGTGGCAGTGAGGCCCAGGCGCGTGGTCACAGTGGCTCTTCACCGCAGGGGCATCCTGCCTGACGCACCTTGGTCCTATGTTCACCAACCCGATCCAAAATGAGCCTAAGGTTGCTCTGGCAATTACTGAAACCCCTTCCCTTTTGTTCTAGAACCATCATTTTAACATTACCATCTGCTTTCGATAATGTCAAGAATAAATTCTTACGGTTCTTTGGGGGTCGTTTTGCGTCTCTTCTCCTCCTACACAGGGAAAACAAAAGAGGATTAAAGGCTAAGAGAGTGTTTTACACCCAGATAGTGCTTCGGTGTTAAGAACTTTGTATAAGTGATTATCATAAAACAGAGAGAAGGGGAGGGAGGCAGTGAGAGGGCCAGCAGGTGAGCTCTGACTCACTCTACCATCTAAAGTCATAGAATACAAAATCTTATAGTCAGGCCCAGCACAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCACACAGATGACTGGAGGTCAGGAGTTCCAGACCAGCCTGGCCAACATGGCGAAATCACGTCTCTACCAAAAATACAAAGATTAGCCAGGCGGGCACTTGTAATCTCAGATACTCAGAAGGCTGAGGCAGAAGAATTGCTTGAACCCGAGACGTAGAGGTTGCAGTAAGCAGAGATCATGCCACTGCATTCCAGCCTGGGCGACAGAGTGAGTGAGACTCCATCTCAAAATAAATGAATAAATAAATCTCATAACCAAAGACTTCCTGAAAAGATTTAGAGGAAAAGCCAATTTTTTAAAACCTTAGCTTTCCTGTGTAAGTGGACACCTCAAGGTAAACAAATAATTGGCCAGGCACAGGGCCGGGCGCGATGGCTCACGCCTGTAATCCCAGCACTTTGGGAGACCGAGGCGGATGGATCACGAGATCAAGAGATTGAGACCATCCTCGCCAAGATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGTTGGGCGCGGTGGCGCATGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATAGCTTGAACCAGGGAGACAGAGGTTGCAGTGAGCCGATGTCGCACCACTGTACTCCAGCCTGGCGGCAGAGCGAGACTCTGTCTCAAAAAACAAATACATAAGTAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAACTGGCCAGGCACAGTGGCCCATGCCTGTAATTCCAGCACTTGAAGAAGCCCAGGTGGGAGGACTGCTTGAGCACAGGAGCTCAAGACCAGCCTGGGCAACACAGTAAAACCCTGTCTCTACAAAAATAGAAAGTTAACTGGGTGTAGTGCCATCTGCCTGTAGTCCCAGCTACCTTGAAGGCCCAGGTGGGAGGATTGCTTCAGCCCAGGAGTTTGCGGCTATGGTAGCTATGACTGTACCACTGCACTCCAGCCTCGACAAGAGTGAGACCCTGTCTCAAAAATAAATACTAAAATGTAAAGGTAAGCAAACAATTGATGAGGGGGTATACAGACCGAGTCATGTCCCCTGCAAAATTCATATGTTAAGACTAACCTGCTATGTGACTGTATTTGGATGTAGAGTCTTTAAGAGACAATTATGGTTAAATGAGGTAATAAAGGTGGGGCCCCATCCAATAAGACCAATGTCCTTGTATTTTTTGTTGTTGGTTTTGAGACAGAGTCTTGCTGTGTCCCCAGCCTGGAGTGCAATGGTGTGATCTCGGCTCACTGCAACCTCTACCTCCTGGGTTCAAGTGACTCTCCTGCCTCAGCTTCCCAAGCAGCTGGGATTACAGGCCCCTATCACCACAACTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGTCCAGGCTGGTTTCAAACTCCTGACCTCAGGTGATGCGCCTGCCTTGGCCTCCCAAAGTGCTGAAAAGACN | benign | 295,945 |
Evaluate this variant at chromosome 19, position 10160070, gene DNMT1 (DNA methyltransferase 1): benign or pathogenic? If pathogenic, what are the disease connection(s)? | benign | GTGGACAGAAGGCATGTGACTTCTGGAAAGTGTCCTCCAGGCCACCATCCACCCTCCAGGAACGAATCTATGATAGATCTCAACTTAGGGAGGAAGCTGAGACACTCAGGACTCTGGCAGCCCCAGCCCCAGGCTCCCCCAAGCCTTTGTCCCTGGTGAAGGCCAGAGTGAGGCCCTCGGGCATGGTTGCCAGCTCTGCCCACCACAGCACACCTCACTCACACCAGCAGGCAGAGGTGTGTGGCCCTGCTTTGGGCCAGGCCTCGGGGGGCTAGCGGTTGCTGGTGGACGCAACAGCATCTTGATCTAGATAGAAGGATCCCATAGAAGGAGAGGGAGGGGAACAACCATCAGCCAAGCACGGGGAACGTGTGGGTGCCCTCCCAGTGGGTACAGGAACCGCTGCCTGGGGGTGCTTCCAACAGGGGTCCCCAAGGCACTTCCCCCTCCTCTTCACAGAGAGGGAAAATACCACCCAGGCCTAAAAGGAGGCAGGGCCGTTCCTGGAGCTGAGGCATTTCCCACGAAGAACAAGGTGAAGCCCTGGAGGGTAACTGCACCCGCAGGGAGAGGGAGCAAAATGGGGCTGGGGATGCCTGAGAGCACAGGGCCTCTGCCCACTCAAGAGCTGACGTGAGCCTCGGTGAAGGTACGGGCCGGACGCCAGGCACCTTCCCTCAGAGGACAGGAGAGTCAGTGCTGAGGCCTGCAAGGCCCTGTGTGGCCCAGCCCCAACCCAGCAACCACCACACCAGACTCACCATTCACCTTCCACAGCTGGCACAGGCCCCTCCGAGCCCTGGTAATGGTGTCCCCTTCTACCTAGGGTGCCCCACCCCGGCCATCCCCTCGGCCTCTTCTCTCACAGGCCATCAAGGTCTTTACTGAAAATCATTACCTCTCCCGTCTTCACAGAACTTCCTCCTCCCACTTATTCTCTCTGCATGTCACCAGGCTTTTAAAATCTGTCGTGGCTGTCACTACCCGACAGGTATCACCCATTTCTGGCTCCGTGAAGGCAGGACCTGAGCAGCTACATCCACGACACCTAGATCACTGGTACCTAGCACAGAGTAGGCCTTCATCTGAGCGTGTGACCCTCAGGATGTGGGCAGAATGGAGGGGTAATATGTGTAGTGTAAAAACCCAAAAACCAAACCAAAAATCAGCAAAGCTCTATTGTCCCTTCATCAGCTTTCCACGTGGCTCTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAATGCAGTGGCACCACCTCGGCTCACTGCAGCCTCCGCCTCCAGAGTTCAAGAAATTCTCCTGCCTAAGCCTCTCGAGTAGTTGGGATTACAGTCGCGTACCACCACACCTGGCTACTTTTTGTATTTTCGGTAGGTTTCGCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTGAAGTGATCTGCTCACCTCGGCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCACCGCGCCCAGCCCTCCACGGTGGCTCTTATCCACGAAGTGTTAGCTTAAGACATGTTGCAGGTCAGGCACTAAAAAACATCACCAGAATCGTGAGCCCGCAGGCACCTCTGGGGATGTGCCTCCTTCCACGAAGCAAACATGCACACGAAAGTGCACTTACCTGAAGCAGGTCAGTTTGTGCTGGGGAAGCGCCTCATAACTCTCAAAGCCAGACTCGTTGGCATCAAAGATGGACAGCTTCTCATTTGTCAGCATCTGTGGCTCATCCACCTGAAGGACACGGGGCTGGTGAGCAGTGGGACAAGGGACAGGCAGAGGAAGGCTGGGAAGAGAGCTGTACGTACCGCGTCTGGTGGGTGCTGCCCATATTTGAGGTCAGGGTCGTCCAGGTACTGCCCGCACTGAATGCACTTGGGAGGGTGGGTCTGTGGGAGCAGGAACACAGATGATGGCACTCAGAGAGCAGCTCCCAGCCGCCTCGTGAGCGCCGCCACCGGCTTTATTCCCGGCAGATGTTTACCTTGGAGTTCATGACTGTTTTGGCGCGAGCCATTTTTTTCTCCGTTCTGGGGGAAAAAAAAAAATCACAAGATCGTTTGTTTAATTGTTTCAGAAAATATCAAAATCGCCCCTGTGAGGTTTCTGCCTGAGGTGCCTGTGGCACAGGGAGGCACCGGCTGTGGCAGTGAGGCCCAGGCGCGTGGTCACAGTGGCTCTTCACCGCAGGGGCATCCTGCCTGACGCACCTTGGTCCTATGTTCACCAACCCGATCCAAAATGAGCCTAAGGTTGCTCTGGCAATTACTGAAACCCCTTCCCTTTTGTTCTAGAACCATCATTTTAACATTACCATCTGCTTTCGATAATGTCAAGAATAAATTCTTACGGTTCTTTGGGGGTCGTTTTGCGTCTCTTCTCCTCCTACACAGGGAAAACAAAAGAGGATTAAAGGCTAAGAGAGTGTTTTACACCCAGATAGTGCTTCGGTGTTAAGAACTTTGTATAAGTGATTATCATAAAACAGAGAGAAGGGGAGGGAGGCAGTGAGAGGGCCAGCAGGTGAGCTCTGACTCACTCTACCATCTAAAGTCATAGAATACAAAATCTTATAGTCAGGCCCAGCACAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCACACAGATGACTGGAGGTCAGGAGTTCCAGACCAGCCTGGCCAACATGGCGAAATCACGTCTCTACCAAAAATACAAAGATTAGCCAGGCGGGCACTTGTAATCTCAGATACTCAGAAGGCTGAGGCAGAAGAATTGCTTGAACCCGAGACGTAGAGGTTGCAGTAAGCAGAGATCATGCCACTGCATTCCAGCCTGGGCGACAGAGTGAGTGAGACTCCATCTCAAAATAAATGAATAAATAAATCTCATAACCAAAGACTTCCTGAAAAGATTTAGAGGAAAAGCCAATTTTTTAAAACCTTAGCTTTCCTGTGTAAGTGGACACCTCAAGGTAAACAAATAATTGGCCAGGCACAGGGCCGGGCGCGATGGCTCACGCCTGTAATCCCAGCACTTTGGGAGACCGAGGCGGATGGATCACGAGATCAAGAGATTGAGACCATCCTCGCCAAGATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGTTGGGCGCGGTGGCGCATGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATAGCTTGAACCAGGGAGACAGAGGTTGCAGTGAGCCGATGTCGCACCACTGTACTCCAGCCTGGCGGCAGAGCGAGACTCTGTCTCAAAAAACAAATACATAAGTAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAACTGGCCAGGCACAGTGGCCCATGCCTGTAATTCCAGCACTTGAAGAAGCCCAGGTGGGAGGACTGCTTGAGCACAGGAGCTCAAGACCAGCCTGGGCAACACAGTAAAACCCTGTCTCTACAAAAATAGAAAGTTAACTGGGTGTAGTGCCATCTGCCTGTAGTCCCAGCTACCTTGAAGGCCCAGGTGGGAGGATTGCTTCAGCCCAGGAGTTTGCGGCTATGGTAGCTATGACTGTACCACTGCACTCCAGCCTCGACAAGAGTGAGACCCTGTCTCAAAAATAAATACTAAAATGTAAAGGTAAGCAAACAATTGATGAGGGGGTATACAGACCGAGTCATGTCCCCTGCAAAATTCATATGTTAAGACTAACCTGCTATGTGACTGTATTTGGATGTAGAGTCTTTAAGAGACAATTATGGTTAAATGAGGTAATAAAGGTGGGGCCCCATCCAATAAGACCAATGTCCTTGTATTTTTTGTTGTTGGTTTTGAGACAGAGTCTTGCTGTGTCCCCAGCCTGGAGTGCAATGGTGTGATCTCGGCTCACTGCAACCTCTACCTCCTGGGTTCAAGTGACTCTCCTGCCTCAGCTTCCCAAGCAGCTGGGATTACAGGCCCCTATCACCACAACTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGTCCAGGCTGGTTTCAAACTCCTGACCTCAGGTGATGCGCCTGCCTTGGCCTCCCAAAGTGCTGAAAAGAC | GTGGACAGAAGGCATGTGACTTCTGGAAAGTGTCCTCCAGGCCACCATCCACCCTCCAGGAACGAATCTATGATAGATCTCAACTTAGGGAGGAAGCTGAGACACTCAGGACTCTGGCAGCCCCAGCCCCAGGCTCCCCCAAGCCTTTGTCCCTGGTGAAGGCCAGAGTGAGGCCCTCGGGCATGGTTGCCAGCTCTGCCCACCACAGCACACCTCACTCACACCAGCAGGCAGAGGTGTGTGGCCCTGCTTTGGGCCAGGCCTCGGGGGGCTAGCGGTTGCTGGTGGACGCAACAGCATCTTGATCTAGATAGAAGGATCCCATAGAAGGAGAGGGAGGGGAACAACCATCAGCCAAGCACGGGGAACGTGTGGGTGCCCTCCCAGTGGGTACAGGAACCGCTGCCTGGGGGTGCTTCCAACAGGGGTCCCCAAGGCACTTCCCCCTCCTCTTCACAGAGAGGGAAAATACCACCCAGGCCTAAAAGGAGGCAGGGCCGTTCCTGGAGCTGAGGCATTTCCCACGAAGAACAAGGTGAAGCCCTGGAGGGTAACTGCACCCGCAGGGAGAGGGAGCAAAATGGGGCTGGGGATGCCTGAGAGCACAGGGCCTCTGCCCACTCAAGAGCTGACGTGAGCCTCGGTGAAGGTACGGGCCGGACGCCAGGCACCTTCCCTCAGAGGACAGGAGAGTCAGTGCTGAGGCCTGCAAGGCCCTGTGTGGCCCAGCCCCAACCCAGCAACCACCACACCAGACTCACCATTCACCTTCCACAGCTGGCACAGGCCCCTCCGAGCCCTGGTAATGGTGTCCCCTTCTACCTAGGGTGCCCCACCCCGGCCATCCCCTCGGCCTCTTCTCTCACAGGCCATCAAGGTCTTTACTGAAAATCATTACCTCTCCCGTCTTCACAGAACTTCCTCCTCCCACTTATTCTCTCTGCATGTCACCAGGCTTTTAAAATCTGTCGTGGCTGTCACTACCCGACAGGTATCACCCATTTCTGGCTCCGTGAAGGCAGGACCTGAGCAGCTACATCCACGACACCTAGATCACTGGTACCTAGCACAGAGTAGGCCTTCATCTGAGCGTGTGACCCTCAGGATGTGGGCAGAATGGAGGGGTAATATGTGTAGTGTAAAAACCCAAAAACCAAACCAAAAATCAGCAAAGCTCTATTGTCCCTTCATCAGCTTTCCACGTGGCTCTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAATGCAGTGGCACCACCTCGGCTCACTGCAGCCTCCGCCTCCAGAGTTCAAGAAATTCTCCTGCCTAAGCCTCTCGAGTAGTTGGGATTACAGTCGCGTACCACCACACCTGGCTACTTTTTGTATTTTCGGTAGGTTTCGCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTGAAGTGATCTGCTCACCTCGGCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCACCGCGCCCAGCCCTCCACGGTGGCTCTTATCCACGAAGTGTTAGCTTAAGACATGTTGCAGGTCAGGCACTAAAAAACATCACCAGAATCGTGAGCCCGCAGGCACCTCTGGGGATGTGCCTCCTTCCACGAAGCAAACATGCACACGAAAGTGCACTTACCTGAAGCAGGTCAGTTTGTGCTGGGGAAGCGCCTCATAACTCTCAAAGCCAGACTCGTTGGCATCAAAGATGGACAGCTTCTCATTTGTCAGCATCTGTGGCTCATCCACCTGAAGGACACGGGGCTGGTGAGCAGTGGGACAAGGGACAGGCAGAGGAAGGCTGGGAAGAGAGCTGTACGTACCGCGTCTGGTGGGTGCTGCCCATATTTGAGGTCAGGGTCGTCCAGGTACTGCCCGCACTGAATGCACTTGGGAGGGTGGGTCTGTGGGAGCAGGAACACAGATGATGGCACTCAGAGAGCAGCTCCCAGCCGCCTCGTGAGCGCCGCCACCGGCTTTATTCCCGGCAGATGTTTACCTTGGAGTTCATGACTGTTTTGGCGCGAGCCATTTTTTTCTCCGTTCTGGGGGAAAAAAAAATCACAAGATCGTTTGTTTAATTGTTTCAGAAAATATCAAAATCGCCCCTGTGAGGTTTCTGCCTGAGGTGCCTGTGGCACAGGGAGGCACCGGCTGTGGCAGTGAGGCCCAGGCGCGTGGTCACAGTGGCTCTTCACCGCAGGGGCATCCTGCCTGACGCACCTTGGTCCTATGTTCACCAACCCGATCCAAAATGAGCCTAAGGTTGCTCTGGCAATTACTGAAACCCCTTCCCTTTTGTTCTAGAACCATCATTTTAACATTACCATCTGCTTTCGATAATGTCAAGAATAAATTCTTACGGTTCTTTGGGGGTCGTTTTGCGTCTCTTCTCCTCCTACACAGGGAAAACAAAAGAGGATTAAAGGCTAAGAGAGTGTTTTACACCCAGATAGTGCTTCGGTGTTAAGAACTTTGTATAAGTGATTATCATAAAACAGAGAGAAGGGGAGGGAGGCAGTGAGAGGGCCAGCAGGTGAGCTCTGACTCACTCTACCATCTAAAGTCATAGAATACAAAATCTTATAGTCAGGCCCAGCACAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCACACAGATGACTGGAGGTCAGGAGTTCCAGACCAGCCTGGCCAACATGGCGAAATCACGTCTCTACCAAAAATACAAAGATTAGCCAGGCGGGCACTTGTAATCTCAGATACTCAGAAGGCTGAGGCAGAAGAATTGCTTGAACCCGAGACGTAGAGGTTGCAGTAAGCAGAGATCATGCCACTGCATTCCAGCCTGGGCGACAGAGTGAGTGAGACTCCATCTCAAAATAAATGAATAAATAAATCTCATAACCAAAGACTTCCTGAAAAGATTTAGAGGAAAAGCCAATTTTTTAAAACCTTAGCTTTCCTGTGTAAGTGGACACCTCAAGGTAAACAAATAATTGGCCAGGCACAGGGCCGGGCGCGATGGCTCACGCCTGTAATCCCAGCACTTTGGGAGACCGAGGCGGATGGATCACGAGATCAAGAGATTGAGACCATCCTCGCCAAGATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGTTGGGCGCGGTGGCGCATGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATAGCTTGAACCAGGGAGACAGAGGTTGCAGTGAGCCGATGTCGCACCACTGTACTCCAGCCTGGCGGCAGAGCGAGACTCTGTCTCAAAAAACAAATACATAAGTAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAACTGGCCAGGCACAGTGGCCCATGCCTGTAATTCCAGCACTTGAAGAAGCCCAGGTGGGAGGACTGCTTGAGCACAGGAGCTCAAGACCAGCCTGGGCAACACAGTAAAACCCTGTCTCTACAAAAATAGAAAGTTAACTGGGTGTAGTGCCATCTGCCTGTAGTCCCAGCTACCTTGAAGGCCCAGGTGGGAGGATTGCTTCAGCCCAGGAGTTTGCGGCTATGGTAGCTATGACTGTACCACTGCACTCCAGCCTCGACAAGAGTGAGACCCTGTCTCAAAAATAAATACTAAAATGTAAAGGTAAGCAAACAATTGATGAGGGGGTATACAGACCGAGTCATGTCCCCTGCAAAATTCATATGTTAAGACTAACCTGCTATGTGACTGTATTTGGATGTAGAGTCTTTAAGAGACAATTATGGTTAAATGAGGTAATAAAGGTGGGGCCCCATCCAATAAGACCAATGTCCTTGTATTTTTTGTTGTTGGTTTTGAGACAGAGTCTTGCTGTGTCCCCAGCCTGGAGTGCAATGGTGTGATCTCGGCTCACTGCAACCTCTACCTCCTGGGTTCAAGTGACTCTCCTGCCTCAGCTTCCCAAGCAGCTGGGATTACAGGCCCCTATCACCACAACTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGTCCAGGCTGGTTTCAAACTCCTGACCTCAGGTGATGCGCCTGCCTTGGCCTCCCAAAGTGCTGAAAAGACNN | benign | 295,946 |
A genetic alteration at chromosome 19, position 10359067, in gene TYK2 (tyrosine kinase 2)—benign or pathogenic? If pathogenic, which disease(s) is involved? | benign | CTTTGCACAGGCCATGCACTCTGCCTAGGCTGCCCTTCCTAGCCAGGCTTGTTGGCATAATTCTACACTTAGATAAAACCTCTTCTGGGGCCGGGCACTGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGACCAATATAATGAAACCCCATCTCTACAAAAAATACAAAAATTAGCCGGGTGTGGTGGCATGTGCCTGTAATCCCCCCTACTCGGGAGGCTGAGACAGGAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCTGAGATCACGCCATTGCATTCCAGCCTGGGCAATTAGAGTGGAACTTCGTCTCAAAATAAAACCACCACACTCATGAACCTCCTTTGGGAAGCCTTGTCTGACCCCACTGCTGGGTGAGGCGCATCCTCAGCCCTTCTTCCCCACTCTGCAGCCTGGGCGTCTCCCATCGCTGCCCTGGTCACTCTGCCTAAAACTGAAATCAAGTCTCTTACTTGCCTTCTGTGTGCCAGGCACAAGTGACTTCCACAAGGACCTAAAAAGGCTGGGACTACATTGAGCCCCAGCGAGTGGCCCACCTGCTGGTAGCCCAGAGAGACTTGAAGTCACGAGGCCAGAAGGGATGCAGCTTTGAGCTCTGATTCTGTCCTCTGGATTTCTTGGAGGGGCCCCCACTGCGGGGAGGGCCCAAGGGTCTCCTAGACATACCTCGGAGGGACTGCGGCTCTGCAGAGGGGCCTCTCCGTCAAAGCAGATCTCCAGGAGGGTGGCGCCAAACCCCCACTTGTCCATGGCGGTGCTTAGGCTGTTGGCCCCACCTGGTAGGCATTCGGGGGCCAGCCAGGGGATCCTCTCCACCCGCTCTGGGAGGCCAAGGTCAGAGGTCACCAAGGGTGAAAGGAGCAGGGGAAGCCCCCCACTGTGCCCAGGTCCCCTCAGGTACTCACCCTCCCTGGAGAGGGCGCCCAGGCCCACGCCAGGATCACTCAGCTTGATGAAGGGGCTGGTGCCCTCTGCCAACCCCAGCCGGGCCAGCAGGATGTTCCGGCCACACACATTACCATGAACCAGGTTCTTGTTCTCCTGAGGTGGGCAGGAGAGGGGGTGTGGCCACTCAGGAGAGGCACAGACGCCAACCCCAAACCTGGTCCCCATAGGGACAGCCAATGTGAAAAGGACAACTGTGACTATCACTGGGTTTCTTTCTGTTTTGTTTTTTGGGGGGTTATTTTTTTCTTGTTTTTTTTTTTTTTTTTTTTTTTTAAGACAGGGTCTCACTCTGTCTCTCAGGTTGGAGTATAGTGGCACGAACATAGCTCACTGCAGCTTCAAACTCCTGGGCTCAAGCCTTCCAAGTAGCGAGAATTACAGGTGCACATCACCACAGCCTAGCTGATTCTTAAATTTTTGGTGGAGATGGGGTCTAGCTATGCTGCTGCCCAGGCTGGGGTGCAGTGGTGTGATCATAGCTTACTACGGCCTCAAATTCCTGAGCTCAGGTGATCCTCCCACCTCAACTTCCTGAGTACCTCGGCCTACAGGTGCAAGTTACCACATTGGCTAATTTTTTTTGTATTTTTAGTAGAGGCAAGGTTTTGCCATACTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCCGCCTTGGCCTCCCAAACTGCTGGGATTACAGGTATGAGCCACCACACCTGGCTATTTGTTTATTTTTAAAAGATGGGGCCAGCTGGGCGTGGTGGCTCACGCCTGGAATCCCAGCACTTTGGGAGGCTGAGGCGGATGGATCACGAGGTCAGAAGTTCGAGACCAGCCTGACCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCGTGATGGCAGGAGCCTATAATCCCAGCTACTTGGGAGGCTGAGGCGGGAGAATCATTTGAACCCGGGAGGCGAAGGTTGCAGTGAGCCGAGATCATGCCATTGCACTCCAGCCTGGGTGACAGGGCGAAACTCCACCTAAAACAAAACAAACAAAAAAGATGGGGTCTCGCCCTGTTGCCCAGGCTGGTCTCGAACTCCTGGGCTCCTGGCCCTCCCTGACCGACCCAGGCCCCACACACAGGCCACACACCAGGTAGCTGAGGGCGCTGGCCAGCTGCTGGGCCACCACCATCTTCCAAGCCATGGGCACATGGCCCCGCTCCCTCCGCAGCCACACATCCAGGGGTCCGTGCTCCACGTACTCTGTCACCATGATATCTGTAAAGACACAGCTGCTCTGGGGCAACCTGCCTGCTTCTGCCCTCTGGATGGCGGGGAATTGGGGGAGACGCCAGGGAGGGACTTGGCATGTGGCTGGGGAGGTGTCAGGGCAGAGGTGTGGGTGGAGTTTGGTCTGGGTTGAAAGTGAGTTTGGGGAGAGAAGAAATGCGGAATGCAGCAGAGGCAGCGGTGGATGAGGGCATTGGGGTCCAAGTGGGATGGGGCACGGAAGAAGTTGAAGTTCAAGAGAGAAAGGTGGGCTGGGCGTAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCAAGGGCAGCCTGCCCAACATGATGAAACTCCATCACTACTAAAAAAAAAAATACAGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCGGATCACAAGTTCAGGAGTTCGAGACCAGCCTGGTCAATATGGTGAAACCCCAACTCTACTAAAAATACAAAAAAATTACAGTGAAACCCCATCTCTACTAAAAAGACAAAAAAATTAGCCAGGCATGGTGGTGGGCGCCGGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGAAGAATGGTGGGAGACGGAGCTTGCAGTGAGCCGAGATCACGTCATTGCACTCCAGCCTGGGCGATAGAGCAAGACTCCATCTCAAAAAGAAGAAAAAAAAAAAAATTAGCTGGGCATGGTGGCACATGCCTGTAATCCCAGCTATTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCGAGATCACGCCACTGTATTCCAGCCTGGGTGACACAGTGAGACTCCGTCTCAAAAAAATTAAAAAAAAAAAGAGATAAAGGTGGCAGGGTACAGTGGCTCATGCCTGCAATCCTGTCACTTTGGGAGGCTGAGGCAGGAAGATCCCTTGAGCCCAGGAGTTTGAGATCAGCCTAAGCAACATAGTGAGACCCCATCTCTACAAAAAATTTTTAAAAATCAGCCGGGTGTGATAGCACACGCCTGTCATCCCAGGTGCTCAAGAGGCTGAGGCGGAAGGATCGCTTGAGCCCGGGAGGTCGAGGCTTCAGTGAGCCATGATGGCACCACTGCATTGCAGCCGGGGCAACAGAGGGAGACCCTAGTCTCACAAAAAAAGAGATAAAGGTGAGCCTACAAAGTAAGCAACTAGGGATGGGGGGGATGGGCATGGATAAGCAGAGGCTAGGGGCTTGAGGTTGGGGTGTAGGAGATGTTTGGGTACCAGAGTAGTCAGAGGGATGTGGGTCAGGGTGTCGGCCAGGGTCCAGGGGAAAGTGGGGGAGATGCACACACACACACACACAGGGGGGTTGAGGGATGGGTGGGTCTAGGGTTGTTCTGTACAAGGGCTTTATTTTTTATTTATTTATTATATTTTTTGAGACAGAGTCTCGCCCTGTCGCCCAGGCTGGAGTGCAGTGGTACAATCATGGCTCACTGCAGCCTTGAACTCCTGGGCTCAAGTGATCCTTCCATTCCAGCCTCACAAGTAGCTAGGACTACAGGCATAGGTCACCATGCCTGGCCCTGATTTTTAAATTTTTTGTAAAGATAGGGTCTGGACATGTTACCCAGGCTGGTCTTGAACTCCTGGGTTTAAGCGATCCTCCCACCTCTGCCTCCCAAAGTGCTGGGATAGGTGTGAGCCACCACACCTAGCCTATACAAGGAGTTTTGAGCTACCTGCAGAGGAAAGGAAGAGGTGGGGTTAGGCAGGGTTGGAT | CTTTGCACAGGCCATGCACTCTGCCTAGGCTGCCCTTCCTAGCCAGGCTTGTTGGCATAATTCTACACTTAGATAAAACCTCTTCTGGGGCCGGGCACTGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGACCAATATAATGAAACCCCATCTCTACAAAAAATACAAAAATTAGCCGGGTGTGGTGGCATGTGCCTGTAATCCCCCCTACTCGGGAGGCTGAGACAGGAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCTGAGATCACGCCATTGCATTCCAGCCTGGGCAATTAGAGTGGAACTTCGTCTCAAAATAAAACCACCACACTCATGAACCTCCTTTGGGAAGCCTTGTCTGACCCCACTGCTGGGTGAGGCGCATCCTCAGCCCTTCTTCCCCACTCTGCAGCCTGGGCGTCTCCCATCGCTGCCCTGGTCACTCTGCCTAAAACTGAAATCAAGTCTCTTACTTGCCTTCTGTGTGCCAGGCACAAGTGACTTCCACAAGGACCTAAAAAGGCTGGGACTACATTGAGCCCCAGCGAGTGGCCCACCTGCTGGTAGCCCAGAGAGACTTGAAGTCACGAGGCCAGAAGGGATGCAGCTTTGAGCTCTGATTCTGTCCTCTGGATTTCTTGGAGGGGCCCCCACTGCGGGGAGGGCCCAAGGGTCTCCTAGACATACCTCGGAGGGACTGCGGCTCTGCAGAGGGGCCTCTCCGTCAAAGCAGATCTCCAGGAGGGTGGCGCCAAACCCCCACTTGTCCATGGCGGTGCTTAGGCTGTTGGCCCCACCTGGTAGGCATTCGGGGGCCAGCCAGGGGATCCTCTCCACCCGCTCTGGGAGGCCAAGGTCAGAGGTCACCAAGGGTGAAAGGAGCAGGGGAAGCCCCCCACTGTGCCCAGGTCCCCTCAGGTACTCACCCTCCCTGGAGAGGGCGCCCAGGCCCACGCCAGGATCACTCAGCTTGATGAAGGGGCTGGTGCCCTCTGCCAACCCCAGCCGGGCCAGCAGGATGTTCCGGCCACACACATTACCATGAACCAGGTTCTTGTTCTCCTGAGGTGGGCAGGAGAGGGGGTGTGGCCACTCAGGAGAGGCACAGACGCCAACCCCAAACCTGGTCCCCATAGGGACAGCCAATGTGAAAAGGACAACTGTGACTATCACTGGGTTTCTTTCTGTTTTGTTTTTTGGGGGGTTATTTTTTTCTTGTTTTTTTTTTTTTTTTTTTTTTTTAAGACAGGGTCTCACTCTGTCTCTCAGGTTGGAGTATAGTGGCACGAACATAGCTCACTGCAGCTTCAAACTCCTGGGCTCAAGCCTTCCAAGTAGCGAGAATTACAGGTGCACATCACCACAGCCTAGCTGATTCTTAAATTTTTGGTGGAGATGGGGTCTAGCTATGCTGCTGCCCAGGCTGGGGTGCAGTGGTGTGATCATAGCTTACTACGGCCTCAAATTCCTGAGCTCAGGTGATCCTCCCACCTCAACTTCCTGAGTACCTCGGCCTACAGGTGCAAGTTACCACATTGGCTAATTTTTTTTGTATTTTTAGTAGAGGCAAGGTTTTGCCATACTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCCGCCTTGGCCTCCCAAACTGCTGGGATTACAGGTATGAGCCACCACACCTGGCTATTTGTTTATTTTTAAAAGATGGGGCCAGCTGGGCGTGGTGGCTCACGCCTGGAATCCCAGCACTTTGGGAGGCTGAGGCGGATGGATCACGAGGTCAGAAGTTCGAGACCAGCCTGACCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCGTGATGGCAGGAGCCTATAATCCCAGCTACTTGGGAGGCTGAGGCGGGAGAATCATTTGAACCCGGGAGGCGAAGGTTGCAGTGAGCCGAGATCATGCCATTGCACTCCAGCCTGGGTGACAGGGCGAAACTCCACCTAAAACAAAACAAACAAACAAAAAAGATGGGGTCTCGCCCTGTTGCCCAGGCTGGTCTCGAACTCCTGGGCTCCTGGCCCTCCCTGACCGACCCAGGCCCCACACACAGGCCACACACCAGGTAGCTGAGGGCGCTGGCCAGCTGCTGGGCCACCACCATCTTCCAAGCCATGGGCACATGGCCCCGCTCCCTCCGCAGCCACACATCCAGGGGTCCGTGCTCCACGTACTCTGTCACCATGATATCTGTAAAGACACAGCTGCTCTGGGGCAACCTGCCTGCTTCTGCCCTCTGGATGGCGGGGAATTGGGGGAGACGCCAGGGAGGGACTTGGCATGTGGCTGGGGAGGTGTCAGGGCAGAGGTGTGGGTGGAGTTTGGTCTGGGTTGAAAGTGAGTTTGGGGAGAGAAGAAATGCGGAATGCAGCAGAGGCAGCGGTGGATGAGGGCATTGGGGTCCAAGTGGGATGGGGCACGGAAGAAGTTGAAGTTCAAGAGAGAAAGGTGGGCTGGGCGTAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCAAGGGCAGCCTGCCCAACATGATGAAACTCCATCACTACTAAAAAAAAAAATACAGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCGGATCACAAGTTCAGGAGTTCGAGACCAGCCTGGTCAATATGGTGAAACCCCAACTCTACTAAAAATACAAAAAAATTACAGTGAAACCCCATCTCTACTAAAAAGACAAAAAAATTAGCCAGGCATGGTGGTGGGCGCCGGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGAAGAATGGTGGGAGACGGAGCTTGCAGTGAGCCGAGATCACGTCATTGCACTCCAGCCTGGGCGATAGAGCAAGACTCCATCTCAAAAAGAAGAAAAAAAAAAAAATTAGCTGGGCATGGTGGCACATGCCTGTAATCCCAGCTATTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCGAGATCACGCCACTGTATTCCAGCCTGGGTGACACAGTGAGACTCCGTCTCAAAAAAATTAAAAAAAAAAAGAGATAAAGGTGGCAGGGTACAGTGGCTCATGCCTGCAATCCTGTCACTTTGGGAGGCTGAGGCAGGAAGATCCCTTGAGCCCAGGAGTTTGAGATCAGCCTAAGCAACATAGTGAGACCCCATCTCTACAAAAAATTTTTAAAAATCAGCCGGGTGTGATAGCACACGCCTGTCATCCCAGGTGCTCAAGAGGCTGAGGCGGAAGGATCGCTTGAGCCCGGGAGGTCGAGGCTTCAGTGAGCCATGATGGCACCACTGCATTGCAGCCGGGGCAACAGAGGGAGACCCTAGTCTCACAAAAAAAGAGATAAAGGTGAGCCTACAAAGTAAGCAACTAGGGATGGGGGGGATGGGCATGGATAAGCAGAGGCTAGGGGCTTGAGGTTGGGGTGTAGGAGATGTTTGGGTACCAGAGTAGTCAGAGGGATGTGGGTCAGGGTGTCGGCCAGGGTCCAGGGGAAAGTGGGGGAGATGCACACACACACACACACAGGGGGGTTGAGGGATGGGTGGGTCTAGGGTTGTTCTGTACAAGGGCTTTATTTTTTATTTATTTATTATATTTTTTGAGACAGAGTCTCGCCCTGTCGCCCAGGCTGGAGTGCAGTGGTACAATCATGGCTCACTGCAGCCTTGAACTCCTGGGCTCAAGTGATCCTTCCATTCCAGCCTCACAAGTAGCTAGGACTACAGGCATAGGTCACCATGCCTGGCCCTGATTTTTAAATTTTTTGTAAAGATAGGGTCTGGACATGTTACCCAGGCTGGTCTTGAACTCCTGGGTTTAAGCGATCCTCCCACCTCTGCCTCCCAAAGTGCTGGGATAGGTGTGAGCCACCACACCTAGCCTATACAAGGAGTTTTGAGCTACCTGCAGAGGAAAGGAAGAGGTGGGGTTAGGCAGGGTT | benign | 296,079 |
The mutation in gene TYK2 (tyrosine kinase 2) at chromosome 19, position 10367919—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | benign | GAAGGAGCGCGGGATGCAGTCCTTGAAGCTGGGGGGAAACACAGTGAGGGGCTGGTCAGGGACCTGGGTTGCAGGCCCAGCTGGGTGACACAGGGCAAGTGGCTTAACCTCTTTGAGCCTCAGCTGCCTCATCTGGAAAACAGGCACACTAGCCAGGTGTGGTGACTTGAGCCTGTAGTCTCAGCTACTTGGGAAGCCAAGGCGGAAGGATCGCTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGATGAAACTCAGTCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCTTGATGGTGGGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGAAGGAGAATCTCTTGAACCTGGGACGCAGAGGTTGCAGTGAGCCAAGATTGCGCCACTGTACTCCAGCCTAGGTGACAGAGAGAGACTCCGGCTCAGAAAAAAAAAAAAGTAGAGGCACGGCAATATGCAAAGTCTACCCTGGCTCCCAGATGCTCAGGACATTTCCCCCTGCCTACACAGCGTCCCCACCCCATTCCCAGACACCTGGTCTTCTTGGCCACCTCCTCCAGGGGGATGCCATGGCGGAGAGCGAGGTGACAGAGGTGCAGAAAGGCCATGCCCAGGCTCTCATTCTTAAAGTGGTGGATCTCCTCCTCGGTCGACAGCTCCCACAGTGATGCCACGTCATTCACAAACTCATGCTTGCCCTGGGAACAGGAAATTGAGCAGAAAGGGAGGTGTGAGAATGCGTTCCTCTCTAGCCCAGAGGTATCCAATCTTCTGGCTACCCTGGACCACACTGGAAGAAGTGTCTTGGGCCCTACATAAAATACACTAACACTAATGATAGCTGATGAGCTAAAAAAAAAAAAAAAAAAAGAATATCGCAAGCCGGGCATGGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGGTCACCTGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGAGAAAACTCGCCTATACTAAAAATACAAAATTAGCCAGGTGTGGTGGCGCATGTCTGTAATCCCAGCTACTCCGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCTGAGATCATGACATTGCACTCCAGCCTGAGCAACAAGAATGAAACTCTGTCTCAAAAAAAAAAAAAAATCACAGCAAAATCTCAGAATATTTTAAGATAGTTTATGAATTTGTGTTGGGCTTCATTCAAAGCTGTCCTGGGCAGCATGCAGTCCGCAGGCCAGGGGTTGGACAAGCTTACTCTAGCCAGAGAACTCTAATTTCCTGCGTCTTACCACCTTGAGGAGGGGAGAGACCACCATTTACTGGAAAGGCCAAATACACAGCATACACCCCTCCTCTTGTCAATCTTGTGCCTGTGGCAGACATTACTAATCAATCACAGCACTCTATCCCCTTCAACCTGAACTCTTGGCTGGGCATGGTGGCTCACACCTATAATCCCACAATTTAGGAGGCTGAGGCAGGTGAATCACTTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTTTACTAAAAATAGAAAAATTAGCCTGGGGTGGTGGCGGGCTTCTGTAATCTCAGTTACTTGGGAGGCTGAGGTGGAAGAATCGCTTCAACCTGGGAGGTGGAAGTTGCAGTGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGCCACAGAGCAAGACTCCATTTCAAAAAAAAAAGATCGGCTGGGAGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCAGATCACGAGGTCAGGAGATGGAGACCATCCTAGCTAACACTGTGAAACCCCGTCTCCACTAAAAATACAAAAAATTAGCTGGGCATGGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAAAATGACGGGAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATCACATCACTGCACTTCAGCCTGGGCGACAGAGCAAGACTCCGTCTCAAAAAAAAAAAAAAGATCCCCAGATAGCATGAGTTGAAACCTATTAGCTATATTGAATCAGGGAGGGAAATGGGGGCTCCTCAACTGCCCCTAAGTCTCCCACAAATAGTCTTGCCACCCCAGCCCTGCTCATACCTGCTCAAAGAGGTACTCAAATGAGGCTGGGTCCAGGAGTTGCATCCCCTGTGCTGTCTGATCTGAGGATGCCTCGGTTCCTGGGGGCCCACAACGGTACACAGCCGGTTCCCGAGGATTCATGCCATGCCAGTTCCGGAAATAAAACCTGCAGGAAGGAGGGACGCAGCTGGGGCTTAGCACAGAGTCAGACCAGCTTCAGCACAGGAGGGGACGAGCTTTGCAAAGGTCTCCACCCACCTTATGCGGAAATATAGCATCAGGCTTGCATCTCTGGGGATCTCTAGGATGTGGTTTGGGGGCAACCAGACTTGGGCCTGAGCATCGAAGAGGGCAAAGAGATTGAAGCAAGGAGGAGTGATACCTGGATCAGGTGAGAAACGAGGTCAGGAGTCACGTCATTTGCTACCGTCAGCCCCAAAGACCCCCCAGACCCAATGTCTGCCTTCACACTCCCTCTGAGGCCCCCTCCCCCACCTGCAGCTTCAGTCTCACGTTGCCCCTGGGCAGAGGACAGTGCGTATGTTGCCCATGCTGTGGCCTCACAGGAGGACTACATTTCCCAGCCTCCCTTGCAGCTAGGATGGAGCCAATTGCACTGCTGGTTTCTGGCCAAAGGGCTGGGTACATTTCCAAGCCTGGAAATAAATTCTCTTGCCACCTTCACCACCCGAGGTATGATGAAGGCTTCTTGTGACAGATGGTGAAGCTGTAAGACAGAGGTGAACCATCCAACCTGTACTTGATTTTAAGTAAAACTTTTTTTTTTTTTTTGAGATGGAGTCTTGCTGTTGCCCAGGCTGGAGAGCAGTGACACGATCTTGGCTCGCTGCAACTTCCGCCTCCTGGGTTCAAGTGATTCTCCTGTCTCAGCCTCCTGAGTTGCTGGGATTACAGGTGTGCGCCACCAACCCCGGCTAGTTTTTGTATTTTTAGAAGAGACGAGGTTTCGCCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCTGCCCACCTTGGCCCCCCAAAGTGCTGAGATTACAGGCATGAGCCACTGTGCTCGGCCGATTTTAGGTAAACCTTGATTAAGATTTGGGGGGATTGCTTATTCCTGCAGCAAAACTAATCCTAGCCTGACCCACATAACTCTACAAACTGCTGCAATTGTCTGGCGTCTCCCTGAACTCCAGCCCCAAAGAAACATCCAGTCACCTCCTGGCTGTCTCCCCCTGGACATCACAGGCCCCCCCTTAGATATGGCTTGTTCCAAACAACATATCTTATCTGTGGTTGGCAAACTCCAACCTTCCCTTCCTCTGCCCTTTTTTTTTTAAGGGTCAGGGTCTTTCTTTGCCACCCAGGTTGCAGTGCAGTGGTGCAATCCTAGCTCACTGCAGCCTCAACCTCCAGGGCTCAAGCGATCCTCCCACCTCAATCTCTGGAGTTGATGGGATTATGGCTATGAGCCAGGGTGTGTGGCTTCTGCCCAGTTCTTCAAACCAGGAACTTGGTCCTTATCTTCAACCTCTCCCACCTGCTCCAAAACAGATCGGTCACCAAGACCTGCTCTTCCTGCACCCTCCATGTCCTGGGGCTCCATCCACCACCTTCAAATGCAAACCTCAACCCCAATCCAGTCTCCAGACTTGCTGTAATTTCCCACACCAGCTACCCAGGGTATCTTTCTTCTACTGATGTCATTTAAAAATTGTACCTGTCGGCCGGGCGCAGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCTGAGGTGGGCAGACCACGAGGTCAGGAGATCAAGACCATCTTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAAATACAAAAAATTAGCCAGGCATGGTGGCGGATGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAAGAGAATGGTGTGAAT | GAAGGAGCGCGGGATGCAGTCCTTGAAGCTGGGGGGAAACACAGTGAGGGGCTGGTCAGGGACCTGGGTTGCAGGCCCAGCTGGGTGACACAGGGCAAGTGGCTTAACCTCTTTGAGCCTCAGCTGCCTCATCTGGAAAACAGGCACACTAGCCAGGTGTGGTGACTTGAGCCTGTAGTCTCAGCTACTTGGGAAGCCAAGGCGGAAGGATCGCTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGATGAAACTCAGTCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCTTGATGGTGGGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGAAGGAGAATCTCTTGAACCTGGGACGCAGAGGTTGCAGTGAGCCAAGATTGCGCCACTGTACTCCAGCCTAGGTGACAGAGAGAGACTCCGGCTCAGAAAAAAAAAAAAGTAGAGGCACGGCAATATGCAAAGTCTACCCTGGCTCCCAGATGCTCAGGACATTTCCCCCTGCCTACACAGCGTCCCCACCCCATTCCCAGACACCTGGTCTTCTTGGCCACCTCCTCCAGGGGGATGCCATGGCGGAGAGCGAGGTGACAGAGGTGCAGAAAGGCCATGCCCAGGCTCTCATTCTTAAAGTGGTGGATCTCCTCCTCGGTCGACAGCTCCCACAGTGATGCCACGTCATTCACAAACTCATGCTTGCCCTGGGAACAGGAAATTGAGCAGAAAGGGAGGTGTGAGAATGCGTTCCTCTCTAGCCCAGAGGTATCCAATCTTCTGGCTACCCTGGACCACACTGGAAGAAGTGTCTTGGGCCCTACATAAAATACACTAACACTAATGATAGCTGATGAGCTAAAAAAAAAAAAAAAAAAAGAATATCGCAAGCCGGGCATGGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGGTCACCTGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGAGAAAACTCGCCTATACTAAAAATACAAAATTAGCCAGGTGTGGTGGCGCATGTCTGTAATCCCAGCTACTCCGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCTGAGATCATGACATTGCACTCCAGCCTGAGCAACAAGAATGAAACTCTGTCTCAAAAAAAAAAAAAAATCACAGCAAAATCTCAGAATATTTTAAGATAGTTTATGAATTTGTGTTGGGCTTCATTCAAAGCTGTCCTGGGCAGCATGCAGTCCGCAGGCCAGGGGTTGGACAAGCTTACTCTAGCCAGAGAACTCTAATTTCCTGCGTCTTACCACCTTGAGGAGGGGAGAGACCACCATTTACTGGAAAGGCCAAATACACAGCATACACCCCTCCTCTTGTCAATCTTGTGCCTGTGGCAGACATTACTAATCAATCACAGCACTCTATCCCCTTCAACCTGAACTCTTGGCTGGGCATGGTGGCTCACACCTATAATCCCACAATTTAGGAGGCTGAGGCAGGTGAATCACTTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTTTACTAAAAATAGAAAAATTAGCCTGGGGTGGTGGCGGGCTTCTGTAATCTCAGTTACTTGGGAGGCTGAGGTGGAAGAATCGCTTCAACCTGGGAGGTGGAAGTTGCAGTGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGCCACAGAGCAAGACTCCATTTCAAAAAAAAAAGATCGGCTGGGAGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCAGATCACGAGGTCAGGAGATGGAGACCATCCTAGCTAACACTGTGAAACCCCGTCTCCACTAAAAATACAAAAAATTAGCTGGGCATGGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAAAATGACGGGAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATCACATCACTGCACTTCAGCCTGGGCGACAGAGCAAGACTCCGTCTCAAAAAAAAAAAAAGATCCCCAGATAGCATGAGTTGAAACCTATTAGCTATATTGAATCAGGGAGGGAAATGGGGGCTCCTCAACTGCCCCTAAGTCTCCCACAAATAGTCTTGCCACCCCAGCCCTGCTCATACCTGCTCAAAGAGGTACTCAAATGAGGCTGGGTCCAGGAGTTGCATCCCCTGTGCTGTCTGATCTGAGGATGCCTCGGTTCCTGGGGGCCCACAACGGTACACAGCCGGTTCCCGAGGATTCATGCCATGCCAGTTCCGGAAATAAAACCTGCAGGAAGGAGGGACGCAGCTGGGGCTTAGCACAGAGTCAGACCAGCTTCAGCACAGGAGGGGACGAGCTTTGCAAAGGTCTCCACCCACCTTATGCGGAAATATAGCATCAGGCTTGCATCTCTGGGGATCTCTAGGATGTGGTTTGGGGGCAACCAGACTTGGGCCTGAGCATCGAAGAGGGCAAAGAGATTGAAGCAAGGAGGAGTGATACCTGGATCAGGTGAGAAACGAGGTCAGGAGTCACGTCATTTGCTACCGTCAGCCCCAAAGACCCCCCAGACCCAATGTCTGCCTTCACACTCCCTCTGAGGCCCCCTCCCCCACCTGCAGCTTCAGTCTCACGTTGCCCCTGGGCAGAGGACAGTGCGTATGTTGCCCATGCTGTGGCCTCACAGGAGGACTACATTTCCCAGCCTCCCTTGCAGCTAGGATGGAGCCAATTGCACTGCTGGTTTCTGGCCAAAGGGCTGGGTACATTTCCAAGCCTGGAAATAAATTCTCTTGCCACCTTCACCACCCGAGGTATGATGAAGGCTTCTTGTGACAGATGGTGAAGCTGTAAGACAGAGGTGAACCATCCAACCTGTACTTGATTTTAAGTAAAACTTTTTTTTTTTTTTTGAGATGGAGTCTTGCTGTTGCCCAGGCTGGAGAGCAGTGACACGATCTTGGCTCGCTGCAACTTCCGCCTCCTGGGTTCAAGTGATTCTCCTGTCTCAGCCTCCTGAGTTGCTGGGATTACAGGTGTGCGCCACCAACCCCGGCTAGTTTTTGTATTTTTAGAAGAGACGAGGTTTCGCCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCTGCCCACCTTGGCCCCCCAAAGTGCTGAGATTACAGGCATGAGCCACTGTGCTCGGCCGATTTTAGGTAAACCTTGATTAAGATTTGGGGGGATTGCTTATTCCTGCAGCAAAACTAATCCTAGCCTGACCCACATAACTCTACAAACTGCTGCAATTGTCTGGCGTCTCCCTGAACTCCAGCCCCAAAGAAACATCCAGTCACCTCCTGGCTGTCTCCCCCTGGACATCACAGGCCCCCCCTTAGATATGGCTTGTTCCAAACAACATATCTTATCTGTGGTTGGCAAACTCCAACCTTCCCTTCCTCTGCCCTTTTTTTTTTAAGGGTCAGGGTCTTTCTTTGCCACCCAGGTTGCAGTGCAGTGGTGCAATCCTAGCTCACTGCAGCCTCAACCTCCAGGGCTCAAGCGATCCTCCCACCTCAATCTCTGGAGTTGATGGGATTATGGCTATGAGCCAGGGTGTGTGGCTTCTGCCCAGTTCTTCAAACCAGGAACTTGGTCCTTATCTTCAACCTCTCCCACCTGCTCCAAAACAGATCGGTCACCAAGACCTGCTCTTCCTGCACCCTCCATGTCCTGGGGCTCCATCCACCACCTTCAAATGCAAACCTCAACCCCAATCCAGTCTCCAGACTTGCTGTAATTTCCCACACCAGCTACCCAGGGTATCTTTCTTCTACTGATGTCATTTAAAAATTGTACCTGTCGGCCGGGCGCAGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCTGAGGTGGGCAGACCACGAGGTCAGGAGATCAAGACCATCTTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAAATACAAAAAATTAGCCAGGCATGGTGGCGGATGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAAGAGAATGGTGTGAATN | benign | 296,119 |
Considering the variant on chromosome 19, location 10368399, involving gene TYK2 (tyrosine kinase 2), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Immunodeficiency_35'] | CTGGCTCCCAGATGCTCAGGACATTTCCCCCTGCCTACACAGCGTCCCCACCCCATTCCCAGACACCTGGTCTTCTTGGCCACCTCCTCCAGGGGGATGCCATGGCGGAGAGCGAGGTGACAGAGGTGCAGAAAGGCCATGCCCAGGCTCTCATTCTTAAAGTGGTGGATCTCCTCCTCGGTCGACAGCTCCCACAGTGATGCCACGTCATTCACAAACTCATGCTTGCCCTGGGAACAGGAAATTGAGCAGAAAGGGAGGTGTGAGAATGCGTTCCTCTCTAGCCCAGAGGTATCCAATCTTCTGGCTACCCTGGACCACACTGGAAGAAGTGTCTTGGGCCCTACATAAAATACACTAACACTAATGATAGCTGATGAGCTAAAAAAAAAAAAAAAAAAAGAATATCGCAAGCCGGGCATGGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGGTCACCTGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGAGAAAACTCGCCTATACTAAAAATACAAAATTAGCCAGGTGTGGTGGCGCATGTCTGTAATCCCAGCTACTCCGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCTGAGATCATGACATTGCACTCCAGCCTGAGCAACAAGAATGAAACTCTGTCTCAAAAAAAAAAAAAAATCACAGCAAAATCTCAGAATATTTTAAGATAGTTTATGAATTTGTGTTGGGCTTCATTCAAAGCTGTCCTGGGCAGCATGCAGTCCGCAGGCCAGGGGTTGGACAAGCTTACTCTAGCCAGAGAACTCTAATTTCCTGCGTCTTACCACCTTGAGGAGGGGAGAGACCACCATTTACTGGAAAGGCCAAATACACAGCATACACCCCTCCTCTTGTCAATCTTGTGCCTGTGGCAGACATTACTAATCAATCACAGCACTCTATCCCCTTCAACCTGAACTCTTGGCTGGGCATGGTGGCTCACACCTATAATCCCACAATTTAGGAGGCTGAGGCAGGTGAATCACTTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTTTACTAAAAATAGAAAAATTAGCCTGGGGTGGTGGCGGGCTTCTGTAATCTCAGTTACTTGGGAGGCTGAGGTGGAAGAATCGCTTCAACCTGGGAGGTGGAAGTTGCAGTGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGCCACAGAGCAAGACTCCATTTCAAAAAAAAAAGATCGGCTGGGAGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCAGATCACGAGGTCAGGAGATGGAGACCATCCTAGCTAACACTGTGAAACCCCGTCTCCACTAAAAATACAAAAAATTAGCTGGGCATGGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAAAATGACGGGAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATCACATCACTGCACTTCAGCCTGGGCGACAGAGCAAGACTCCGTCTCAAAAAAAAAAAAAAGATCCCCAGATAGCATGAGTTGAAACCTATTAGCTATATTGAATCAGGGAGGGAAATGGGGGCTCCTCAACTGCCCCTAAGTCTCCCACAAATAGTCTTGCCACCCCAGCCCTGCTCATACCTGCTCAAAGAGGTACTCAAATGAGGCTGGGTCCAGGAGTTGCATCCCCTGTGCTGTCTGATCTGAGGATGCCTCGGTTCCTGGGGGCCCACAACGGTACACAGCCGGTTCCCGAGGATTCATGCCATGCCAGTTCCGGAAATAAAACCTGCAGGAAGGAGGGACGCAGCTGGGGCTTAGCACAGAGTCAGACCAGCTTCAGCACAGGAGGGGACGAGCTTTGCAAAGGTCTCCACCCACCTTATGCGGAAATATAGCATCAGGCTTGCATCTCTGGGGATCTCTAGGATGTGGTTTGGGGGCAACCAGACTTGGGCCTGAGCATCGAAGAGGGCAAAGAGATTGAAGCAAGGAGGAGTGATACCTGGATCAGGTGAGAAACGAGGTCAGGAGTCACGTCATTTGCTACCGTCAGCCCCAAAGACCCCCCAGACCCAATGTCTGCCTTCACACTCCCTCTGAGGCCCCCTCCCCCACCTGCAGCTTCAGTCTCACGTTGCCCCTGGGCAGAGGACAGTGCGTATGTTGCCCATGCTGTGGCCTCACAGGAGGACTACATTTCCCAGCCTCCCTTGCAGCTAGGATGGAGCCAATTGCACTGCTGGTTTCTGGCCAAAGGGCTGGGTACATTTCCAAGCCTGGAAATAAATTCTCTTGCCACCTTCACCACCCGAGGTATGATGAAGGCTTCTTGTGACAGATGGTGAAGCTGTAAGACAGAGGTGAACCATCCAACCTGTACTTGATTTTAAGTAAAACTTTTTTTTTTTTTTTGAGATGGAGTCTTGCTGTTGCCCAGGCTGGAGAGCAGTGACACGATCTTGGCTCGCTGCAACTTCCGCCTCCTGGGTTCAAGTGATTCTCCTGTCTCAGCCTCCTGAGTTGCTGGGATTACAGGTGTGCGCCACCAACCCCGGCTAGTTTTTGTATTTTTAGAAGAGACGAGGTTTCGCCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCTGCCCACCTTGGCCCCCCAAAGTGCTGAGATTACAGGCATGAGCCACTGTGCTCGGCCGATTTTAGGTAAACCTTGATTAAGATTTGGGGGGATTGCTTATTCCTGCAGCAAAACTAATCCTAGCCTGACCCACATAACTCTACAAACTGCTGCAATTGTCTGGCGTCTCCCTGAACTCCAGCCCCAAAGAAACATCCAGTCACCTCCTGGCTGTCTCCCCCTGGACATCACAGGCCCCCCCTTAGATATGGCTTGTTCCAAACAACATATCTTATCTGTGGTTGGCAAACTCCAACCTTCCCTTCCTCTGCCCTTTTTTTTTTAAGGGTCAGGGTCTTTCTTTGCCACCCAGGTTGCAGTGCAGTGGTGCAATCCTAGCTCACTGCAGCCTCAACCTCCAGGGCTCAAGCGATCCTCCCACCTCAATCTCTGGAGTTGATGGGATTATGGCTATGAGCCAGGGTGTGTGGCTTCTGCCCAGTTCTTCAAACCAGGAACTTGGTCCTTATCTTCAACCTCTCCCACCTGCTCCAAAACAGATCGGTCACCAAGACCTGCTCTTCCTGCACCCTCCATGTCCTGGGGCTCCATCCACCACCTTCAAATGCAAACCTCAACCCCAATCCAGTCTCCAGACTTGCTGTAATTTCCCACACCAGCTACCCAGGGTATCTTTCTTCTACTGATGTCATTTAAAAATTGTACCTGTCGGCCGGGCGCAGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCTGAGGTGGGCAGACCACGAGGTCAGGAGATCAAGACCATCTTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAAATACAAAAAATTAGCCAGGCATGGTGGCGGATGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAAGAGAATGGTGTGAATTCAGGAGGTGGAACTTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCTGTCTCAAACAACACAACAAAACAAAACAAAGAATCAGCCATGGCCAGGCTCGAGGGTGCACACTTGTAATCCCAACACTTTGGGAGTCTGAGGCAGGTGGATCACTTGAGGTCAGGAGTTCGAGACCAGCGTGGCCAGCATGGTGAAATCCCATCTCTATTAAAAAAAAAAATAGCTGGACCTGGTGGCATGTGCCTGTAATTCCAGCTACTTGGGAGGCTGAGGCAGGAGGACTGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCAAGATCGTGCCACTGAGCTCCAGCCTGGGCGGCAGAGTGAGATCTGAAAAAAAAAAATTGGCTGGCCATGGTGGGGTGCACCTTTAGTCCCAGCTACTCCGGAGGTTGACGCAGGACAATCGCTTGAACCCGGGAGGTG | CTGGCTCCCAGATGCTCAGGACATTTCCCCCTGCCTACACAGCGTCCCCACCCCATTCCCAGACACCTGGTCTTCTTGGCCACCTCCTCCAGGGGGATGCCATGGCGGAGAGCGAGGTGACAGAGGTGCAGAAAGGCCATGCCCAGGCTCTCATTCTTAAAGTGGTGGATCTCCTCCTCGGTCGACAGCTCCCACAGTGATGCCACGTCATTCACAAACTCATGCTTGCCCTGGGAACAGGAAATTGAGCAGAAAGGGAGGTGTGAGAATGCGTTCCTCTCTAGCCCAGAGGTATCCAATCTTCTGGCTACCCTGGACCACACTGGAAGAAGTGTCTTGGGCCCTACATAAAATACACTAACACTAATGATAGCTGATGAGCTAAAAAAAAAAAAAAAAAAAGAATATCGCAAGCCGGGCATGGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGGTCACCTGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGAGAAAACTCGCCTATACTAAAAATACAAAATTAGCCAGGTGTGGTGGCGCATGTCTGTAATCCCAGCTACTCCGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCTGAGATCATGACATTGCACTCCAGCCTGAGCAACAAGAATGAAACTCTGTCTCAAAAAAAAAAAAAAATCACAGCAAAATCTCAGAATATTTTAAGATAGTTTATGAATTTGTGTTGGGCTTCATTCAAAGCTGTCCTGGGCAGCATGCAGTCCGCAGGCCAGGGGTTGGACAAGCTTACTCTAGCCAGAGAACTCTAATTTCCTGCGTCTTACCACCTTGAGGAGGGGAGAGACCACCATTTACTGGAAAGGCCAAATACACAGCATACACCCCTCCTCTTGTCAATCTTGTGCCTGTGGCAGACATTACTAATCAATCACAGCACTCTATCCCCTTCAACCTGAACTCTTGGCTGGGCATGGTGGCTCACACCTATAATCCCACAATTTAGGAGGCTGAGGCAGGTGAATCACTTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTTTACTAAAAATAGAAAAATTAGCCTGGGGTGGTGGCGGGCTTCTGTAATCTCAGTTACTTGGGAGGCTGAGGTGGAAGAATCGCTTCAACCTGGGAGGTGGAAGTTGCAGTGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGCCACAGAGCAAGACTCCATTTCAAAAAAAAAAGATCGGCTGGGAGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCAGATCACGAGGTCAGGAGATGGAGACCATCCTAGCTAACACTGTGAAACCCCGTCTCCACTAAAAATACAAAAAATTAGCTGGGCATGGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAAAATGACGGGAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATCACATCACTGCACTTCAGCCTGGGCGACAGAGCAAGACTCCGTCTCAAAAAAAAAAAAAAGATCCCCAGATAGCATGAGTTGAAACCTATTAGCTATATTGAATCAGGGAGGGAAATGGGGGCTCCTCAACTGCCCCTAAGTCTCCCACAAATAGTCTTGCCACCCCAGCCCTGCTCATACCTGCTCAAAGAGGTACTCAAATGAGGCTGGGTCCAGGAGTTGCATCCCCTGTGCTGTCTGATCTGAGGATGCCTCGGTTCCTGGGGGCCCACAACGGTACACAGCCGGTTCCCGAGGATTCATGCCATGCCAGTTCCGGAAATAAAACCTGCAGGAAGGAGGGACGCAGCTGGGGCTTAGCACAGAGTCAGACCAGCTTCAGCACAGGAGGGGACGAGCTTTGCAAAGGTCTCCACCCACCTTATGCGGAAATATAGCATCAGGCTTGCATCTCTGGGGATCTCTAGGATGTGGTTTGGGGGCAACCAGACTTGGGCCTGAGCATCGAAGAGGGCAAAGAGATTGAAGGAGGAGTGATACCTGGATCAGGTGAGAAACGAGGTCAGGAGTCACGTCATTTGCTACCGTCAGCCCCAAAGACCCCCCAGACCCAATGTCTGCCTTCACACTCCCTCTGAGGCCCCCTCCCCCACCTGCAGCTTCAGTCTCACGTTGCCCCTGGGCAGAGGACAGTGCGTATGTTGCCCATGCTGTGGCCTCACAGGAGGACTACATTTCCCAGCCTCCCTTGCAGCTAGGATGGAGCCAATTGCACTGCTGGTTTCTGGCCAAAGGGCTGGGTACATTTCCAAGCCTGGAAATAAATTCTCTTGCCACCTTCACCACCCGAGGTATGATGAAGGCTTCTTGTGACAGATGGTGAAGCTGTAAGACAGAGGTGAACCATCCAACCTGTACTTGATTTTAAGTAAAACTTTTTTTTTTTTTTTGAGATGGAGTCTTGCTGTTGCCCAGGCTGGAGAGCAGTGACACGATCTTGGCTCGCTGCAACTTCCGCCTCCTGGGTTCAAGTGATTCTCCTGTCTCAGCCTCCTGAGTTGCTGGGATTACAGGTGTGCGCCACCAACCCCGGCTAGTTTTTGTATTTTTAGAAGAGACGAGGTTTCGCCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCTGCCCACCTTGGCCCCCCAAAGTGCTGAGATTACAGGCATGAGCCACTGTGCTCGGCCGATTTTAGGTAAACCTTGATTAAGATTTGGGGGGATTGCTTATTCCTGCAGCAAAACTAATCCTAGCCTGACCCACATAACTCTACAAACTGCTGCAATTGTCTGGCGTCTCCCTGAACTCCAGCCCCAAAGAAACATCCAGTCACCTCCTGGCTGTCTCCCCCTGGACATCACAGGCCCCCCCTTAGATATGGCTTGTTCCAAACAACATATCTTATCTGTGGTTGGCAAACTCCAACCTTCCCTTCCTCTGCCCTTTTTTTTTTAAGGGTCAGGGTCTTTCTTTGCCACCCAGGTTGCAGTGCAGTGGTGCAATCCTAGCTCACTGCAGCCTCAACCTCCAGGGCTCAAGCGATCCTCCCACCTCAATCTCTGGAGTTGATGGGATTATGGCTATGAGCCAGGGTGTGTGGCTTCTGCCCAGTTCTTCAAACCAGGAACTTGGTCCTTATCTTCAACCTCTCCCACCTGCTCCAAAACAGATCGGTCACCAAGACCTGCTCTTCCTGCACCCTCCATGTCCTGGGGCTCCATCCACCACCTTCAAATGCAAACCTCAACCCCAATCCAGTCTCCAGACTTGCTGTAATTTCCCACACCAGCTACCCAGGGTATCTTTCTTCTACTGATGTCATTTAAAAATTGTACCTGTCGGCCGGGCGCAGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCTGAGGTGGGCAGACCACGAGGTCAGGAGATCAAGACCATCTTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAAATACAAAAAATTAGCCAGGCATGGTGGCGGATGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAAGAGAATGGTGTGAATTCAGGAGGTGGAACTTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCTGTCTCAAACAACACAACAAAACAAAACAAAGAATCAGCCATGGCCAGGCTCGAGGGTGCACACTTGTAATCCCAACACTTTGGGAGTCTGAGGCAGGTGGATCACTTGAGGTCAGGAGTTCGAGACCAGCGTGGCCAGCATGGTGAAATCCCATCTCTATTAAAAAAAAAAATAGCTGGACCTGGTGGCATGTGCCTGTAATTCCAGCTACTTGGGAGGCTGAGGCAGGAGGACTGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCAAGATCGTGCCACTGAGCTCCAGCCTGGGCGGCAGAGTGAGATCTGAAAAAAAAAAATTGGCTGGCCATGGTGGGGTGCACCTTTAGTCCCAGCTACTCCGGAGGTTGACGCAGGACAATCGCTTGAACCCGGGAGGTGNNNN | pathogenic | 296,123 |
Evaluate if the mutation on chromosome 19 at position 10759731 in DNM2 (dynamin 2) is benign or pathogenic. Disease name(s) if pathogenic? | benign | ACCTGTAAACCCAGCACTTTGGGAGGCCAAGGCGGGCAGATCACCTGAGGTTGAGTTCGAGACCACTCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAAAATTAGCCAGGCATGGTAGCGCGTGCATGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGAGGCAGAGGTTGCAGTGAGTTGAGATCGAGCCACTGCACTCCAGCCTGGGCAACAAGAGCGAAGCTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAAAAGAAATTCCCTGTGCCTAGAACCTTTCACCATTTTGTATGAAACAACAGAATTTCCTTTCGAGCCTTTAATGTACCCCGAGCCCACTGTTTCTACTTCAGTCCTCACTGGAAAGCTTTCATTTTCCTTTCTGAGTGTACAGGGTGACTTCCTGTCTTCCTCCTTGCTGGAATCCTGGTGTATTCACTGTAAGTCGGAGCAGGCTACTCCCTCTATCTTCTGGGGTGGTTGTGCCTGAGTCTTTTCCATTGTGAAAGACATGGAATTGATTCCTTTCTTCCTTCCCTCCTTCCTTCCCTCCTTCCTTCCCTCCCTCCTTCCTTCCCTCCCTCCTTCCCTCCCTCCTTCCTTCCCTCCCTCCTTCCTTCCCTCCTTCCTTCCCTCCCTCCTTCCTTCCCTCCCTCCTTCCCTCCCTCCTTCCTTCCCTCCTTCCTTCCCTCCTTCCTTCCCTCCCTCCTTCCCTCCCTCCCTCCTTCCTTCCCTCCCTCCTTCCTTCCCTCCCTCCTTCCTTCCCTCCCTCCTTCCTTCCTTCCTCCCTTTCCTCCCTTTCCTCCCTTCCCTCCCCTCCCTCCCTTCCCTCCCTTCCCTTCTTTCCTTGATGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGTGTGCCACCACACTTGGATAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCCGCCCACCTCGGCCTCCCCAAAGTGCTGAGGTTACAGGCCTGTGCCACTGCACCCGGCCAGGATATGTACTTTTCTTAAACAGCTCTGTCGAATAGTAATTTACATTCCGCGAAATCGATCCATTTCAGAATTAGTGGTCTTTAGTCATTTTACAGTCCTTTTTTTTTTCCCACACAGAGTCTCGCTCTATTGCCTAAGCTGGAGTGCAGTAGTGCAGTCATGGCTCTGTACAACCTCAGCCTCCCGGGCTCATGCCATCCTCCTCTCTCAGCCTCTCTAGTAGCTGGGATCACAGGCGTGGGCCACCACGCCCAGCTAATTTTAGTTTAGTTTAGTTTAGTTTAGTTTTTGTAGAGATGGGGTCTTACTATCTTGTCCAGGCTTTTACAGTTAATTTTAGTAAACATCACCATAGTCCAGATGTAGAACATTTTCATCACCCCAGAAAGCTCCTTCCCCTCCATTGGCAGTCACCCCCGTTCCCACATCCAGGTATCCACTGATCTGCCTTCTGCTTCTGTAGATGTGACTTTTCTGGACATGAAACACATCCTATTTTGTCATCAATAACTTTCCTCGTATTTTACCCATATACATGTGGCATTGTGTTGATTTAAAACACATAGGAAATGTGTTGATCTCCTGGGTATGGGGGAAATTTAACAAATACATGCCAGGGAATGGGCCCCCTGGGAGTACGGGGGGTGGGGCACAGCCTGCCAGAGGGAAATGGTTCTGGTCACTATGACCTTCCATGCATACCTTCCTGAGCTCTTCAGGCCTCAGGACCCTCCAAGACCAGAGCATTCCCCAGGGCCCAGCTGGGGTTGGTGCCTTTGCTGAGGTCGCCCAAATTGCAAGACAGAGTTGCTCCACCACATGTGGTCACACTTCCTGCCCCTCGATCCGGACGCAAGAGTAATTTCTGTCCCTCTCCCCCCCTCACAGGGACTTCCTTCCCCGCGGTTCAGGAATCGTCACCCGGCGGCCTCTCATTCTGCAGCTCATCTTCTCAAAAACAGGTAAAATGGGGCGGCCTGAGGTTCAGCAGGAAGTGGATGTGGATGTGTGGTTGCCAGGAGTTGCTGGGGGCGGAGGGTGGAACTTGGGTCCTGGGCTGTCATTGGACATTGAATTCACGTGTTCCACATGTGTGAGGAAATTGAAAAACGGCTCAGTGAACACTTACACACCCACACTGCAAGCCCTCAGCTGTGACCAGAATGCCAGGTGCCATGTGTGCTTTCTTTTTTCTTTTTTTTGAGACAGAGTCTCACTCTGTCACCCAGGCTGGAGTACAGTGATGCTATCTTGGCTCACTGCAACCTCCACCTCCCAGGTTCCAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGTGACCCTCCATGGCCAGCTTTTTTTTTTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCCTGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGACCCTCTCACTTCGGCCTCCCTAAGTGCTGGGATTACGGGCATGAGCCACCACACCGGCCCCATGTGTGCTTTTCATGTGTTATAGATAACCCGATTTTGCTGAACGCTTTCAAAGTCAGTAGCAGACGTGGTGACACATCCATCCTTCACGCCCCAGTGCACCTCCCCATGCAATAAAGACGCCTGTCTACAAAGTCCCAGCACCATGCCCCAGAGAACGAGTCATTCCCGCATGTCATCCACGTCCCAGTTTCTACTCAGCATGTCGCCAGTTGTCCCCCAGATATCTGGCTGGTTTTATAGCTGCTCTGCTCAATCCAATGCTATACTCTTTTGTAATCTCTTCTTCTCTTTTCATTAAAGCAGCCTCCCCATAATCACTTTTTTTATTTTTTTTAAGAGACAGGGTCTCACTCTGTTCCCCAGGCCGTGCAGTGGTGTAGTCATAGCTCACTGCGGCCTCGACCTCCTGGGCCCAAGCAATCCTCTCCAATCAGCCTCTCGGGTAGCTAGGATTACAGGTGCACACACCACCACACCCAGCTGATTTTTTTTTTTTTTTTTGGTAGAGATGGGGGTTATGTTACCCAGGCAGGTCTTGAAGTCCTGGCCTCAAGCAATCCTCCTGCGTCAGCTTCCCACAGTGCTGGGATTATAGGCATGAACCATCACACCAGCCCTCTACCATTGCTTTTTATTTTTTATTTTATTTATTTATTTATTTTTTGAGACAAAGTCTTGCTCTGTCGCCAGGCTGGAATGCAGTGGCGTGATCTCGGCTCACTGCAACATCCGCCTCCTGGGTTCAAGCGATTCTCCTTCCTCAGCCTCCTGAGTTGCTGGGACTACAGGTGTGTGTCACCATGTCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGATTTCACCATGTTGGCCAGGCTGGTCTTGATCTCTTGACCTCGTGATCCGCCCACTTCGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCACCATTGCTTTTTAATCAGACTTTGACTCTTAGGGAGACCCAGCCTGTTGAATATAGTATGGCCTATGTGTGGATTTTTTCCTGTTCTTTCCTTCCCTGATCTCAGTGTATTTCTATTCTTCCCACCCGAGGCTGACATGAGGTGGGCGTATATCCCAGCTGGAAACCCCCTCGGGCCTCCTTGGGAAGGATCTTGGGTCAGAAGCTAGACCCGGGAGAGGTAAGGGTCTCCGTGCCCCTTCCCTGCTAATCTGCAACATCAGCTCTGGGCGTTCAACACTCAGTTTGTGTTAATGTCTTCTTGCGGCCCTTTTAAATACTCTCACACTGGGAAGGCAGCTGACACACACACCCCCATTCTACAGATGGGGAAACTGAGGCTTAGCCATGCTGCCTGCCTTTCCAATGGGCCCCAGATCTGGGACCTGCATCCAGGCAGATCTGACCTCAACGCCAGCTCTCAGCTTGGCCTCCCAAGACTCCTCACTTTCG | ACCTGTAAACCCAGCACTTTGGGAGGCCAAGGCGGGCAGATCACCTGAGGTTGAGTTCGAGACCACTCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAAAATTAGCCAGGCATGGTAGCGCGTGCATGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGAGGCAGAGGTTGCAGTGAGTTGAGATCGAGCCACTGCACTCCAGCCTGGGCAACAAGAGCGAAGCTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAAAAGAAATTCCCTGTGCCTAGAACCTTTCACCATTTTGTATGAAACAACAGAATTTCCTTTCGAGCCTTTAATGTACCCCGAGCCCACTGTTTCTACTTCAGTCCTCACTGGAAAGCTTTCATTTTCCTTTCTGAGTGTACAGGGTGACTTCCTGTCTTCCTCCTTGCTGGAATCCTGGTGTATTCACTGTAAGTCGGAGCAGGCTACTCCCTCTATCTTCTGGGGTGGTTGTGCCTGAGTCTTTTCCATTGTGAAAGACATGGAATTGATTCCTTTCTTCCTTCCCTCCTTCCTTCCCTCCTTCCTTCCCTCCCTCCTTCCTTCCCTCCCTCCTTCCCTCCCTCCTTCCTTCCCTCCCTCCTTCCTTCCCTCCTTCCTTCCCTCCCTCCTTCCTTCCCTCCCTCCTTCCCTCCCTCCTTCCTTCCCTCCTTCCTTCCCTCCTTCCTTCCCTCCCTCCTTCCCTCCCTCCCTCCTTCCTTCCCTCCCTCCTTCCTTCCCTCCCTCCTTCCTTCCCTCCCTCCTTCCTTCCTTCCTCCCTTTCCTCCCTTTCCTCCCTTCCCTCCCCTCCCTCCCTTCCCTCCCTTCCCTTCTTTCCTTGATGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGTGTGCCACCACACTTGGATAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCCGCCCACCTCGGCCTCCCCAAAGTGCTGAGGTTACAGGCCTGTGCCACTGCACCCGGCCAGGATATGTACTTTTCTTAAACAGCTCTGTCGAATAGTAATTTACATTCCGCGAAATCGATCCATTTCAGAATTAGTGGTCTTTAGTCATTTTACAGTCCTTTTTTTTTTCCCACACAGAGTCTCGCTCTATTGCCTAAGCTGGAGTGCAGTAGTGCAGTCATGGCTCTGTACAACCTCAGCCTCCCGGGCTCATGCCATCCTCCTCTCTCAGCCTCTCTAGTAGCTGGGATCACAGGCGTGGGCCACCACGCCCAGCTAATTTTAGTTTAGTTTAGTTTAGTTTAGTTTTTGTAGAGATGGGGTCTTACTATCTTGTCCAGGCTTTTACAGTTAATTTTAGTAAACATCACCATAGTCCAGATGTAGAACATTTTCATCACCCCAGAAAGCTCCTTCCCCTCCATTGGCAGTCACCCCCGTTCCCACATCCAGGTATCCACTGATCTGCCTTCTGCTTCTGTAGATGTGACTTTTCTGGACATGAAACACATCCTATTTTGTCATCAATAACTTTCCTCGTATTTTACCCATATACATGTGGCATTGTGTTGATTTAAAACACATAGGAAATGTGTTGATCTCCTGGGTATGGGGGAAATTTAACAAATACATGCCAGGGAATGGGCCCCCTGGGAGTACGGGGGGTGGGGCACAGCCTGCCAGAGGGAAATGGTTCTGGTCACTATGACCTTCCATGCATACCTTCCTGAGCTCTTCAGGCCTCAGGACCCTCCAAGACCAGAGCATTCCCCAGGGCCCAGCTGGGGTTGGTGCCTTTGCTGAGGTCGCCCAAATTGCAAGACAGAGTTGCTCCACCACATGTGGTCACACTTCCTGCCCCTCGATCCGGACGCAAGAGTAATTTCTGTCCCTCTCCCCCCCCACAGGGACTTCCTTCCCCGCGGTTCAGGAATCGTCACCCGGCGGCCTCTCATTCTGCAGCTCATCTTCTCAAAAACAGGTAAAATGGGGCGGCCTGAGGTTCAGCAGGAAGTGGATGTGGATGTGTGGTTGCCAGGAGTTGCTGGGGGCGGAGGGTGGAACTTGGGTCCTGGGCTGTCATTGGACATTGAATTCACGTGTTCCACATGTGTGAGGAAATTGAAAAACGGCTCAGTGAACACTTACACACCCACACTGCAAGCCCTCAGCTGTGACCAGAATGCCAGGTGCCATGTGTGCTTTCTTTTTTCTTTTTTTTGAGACAGAGTCTCACTCTGTCACCCAGGCTGGAGTACAGTGATGCTATCTTGGCTCACTGCAACCTCCACCTCCCAGGTTCCAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGTGACCCTCCATGGCCAGCTTTTTTTTTTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCCTGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGACCCTCTCACTTCGGCCTCCCTAAGTGCTGGGATTACGGGCATGAGCCACCACACCGGCCCCATGTGTGCTTTTCATGTGTTATAGATAACCCGATTTTGCTGAACGCTTTCAAAGTCAGTAGCAGACGTGGTGACACATCCATCCTTCACGCCCCAGTGCACCTCCCCATGCAATAAAGACGCCTGTCTACAAAGTCCCAGCACCATGCCCCAGAGAACGAGTCATTCCCGCATGTCATCCACGTCCCAGTTTCTACTCAGCATGTCGCCAGTTGTCCCCCAGATATCTGGCTGGTTTTATAGCTGCTCTGCTCAATCCAATGCTATACTCTTTTGTAATCTCTTCTTCTCTTTTCATTAAAGCAGCCTCCCCATAATCACTTTTTTTATTTTTTTTAAGAGACAGGGTCTCACTCTGTTCCCCAGGCCGTGCAGTGGTGTAGTCATAGCTCACTGCGGCCTCGACCTCCTGGGCCCAAGCAATCCTCTCCAATCAGCCTCTCGGGTAGCTAGGATTACAGGTGCACACACCACCACACCCAGCTGATTTTTTTTTTTTTTTTTGGTAGAGATGGGGGTTATGTTACCCAGGCAGGTCTTGAAGTCCTGGCCTCAAGCAATCCTCCTGCGTCAGCTTCCCACAGTGCTGGGATTATAGGCATGAACCATCACACCAGCCCTCTACCATTGCTTTTTATTTTTTATTTTATTTATTTATTTATTTTTTGAGACAAAGTCTTGCTCTGTCGCCAGGCTGGAATGCAGTGGCGTGATCTCGGCTCACTGCAACATCCGCCTCCTGGGTTCAAGCGATTCTCCTTCCTCAGCCTCCTGAGTTGCTGGGACTACAGGTGTGTGTCACCATGTCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGATTTCACCATGTTGGCCAGGCTGGTCTTGATCTCTTGACCTCGTGATCCGCCCACTTCGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCACCATTGCTTTTTAATCAGACTTTGACTCTTAGGGAGACCCAGCCTGTTGAATATAGTATGGCCTATGTGTGGATTTTTTCCTGTTCTTTCCTTCCCTGATCTCAGTGTATTTCTATTCTTCCCACCCGAGGCTGACATGAGGTGGGCGTATATCCCAGCTGGAAACCCCCTCGGGCCTCCTTGGGAAGGATCTTGGGTCAGAAGCTAGACCCGGGAGAGGTAAGGGTCTCCGTGCCCCTTCCCTGCTAATCTGCAACATCAGCTCTGGGCGTTCAACACTCAGTTTGTGTTAATGTCTTCTTGCGGCCCTTTTAAATACTCTCACACTGGGAAGGCAGCTGACACACACACCCCCATTCTACAGATGGGGAAACTGAGGCTTAGCCATGCTGCCTGCCTTTCCAATGGGCCCCAGATCTGGGACCTGCATCCAGGCAGATCTGACCTCAACGCCAGCTCTCAGCTTGGCCTCCCAAGACTCCTCACTTTCGN | benign | 296,169 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 19, position 10777086, gene DNM2 (dynamin 2). What disease(s) is it linked to if pathogenic? | benign | TGGGATGACAGGCATGAGTCACCGCGCCTGGCCTCATCCATTTGTCTTTTGTTTTTGTTTTTTTGAGACAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTATGATCTCAGCTCACTGCAACCTCCACCTTCTGGGTTCAAGTGTTTCTCATGCCTCAGCCTCCAGAGTAGCTGGGAGTACAAGTGTGTGCTACCACGCCCAGCTAATTTTTGTATACTTAGTACAGATGGGGTTTTGCCATGTTGGCTAGGCTGGTCTAGAACTCCTGGCCTCAAGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTGCAGATGTGAGCCACCGCACCCAGCCTCATCTGTTTGTCTGTAATGGTTCTTTGGTATTGGCTGAATGGATGGGCTGAAATTTATTCAGTCATTTAGGTCTATTCCAGTCTGAACTGTCCTGATTTAGAACTGTGCCATTGAAATGGAGTAGGTAGAAGGTATCTGTAGGATGGGATCCTAGAAGGGGAGTTACTGGATCAAAGGTGTGGTTCAGGCAGAGTGTCAGGCGACATCCTCAAGTCTGAGCCCCGCGCAGGAACTTTGGTAGTCAGCTGGGTGGCTGCGGGCCTGTTTGTGCCTCCCCTCTCCTGGCTCTGAATGCCTTTCCTTCTGGTTTCCCTCCCAGTGTTGAACTTGACCCTCATCGACCTCCCGGGTATCACCAAGGTGCCTGTGGGCGACCAGCCTCCAGACATCGAGTACCAGATCAAGGACATGATCCTGCAGTTCATCAGCCGGGAGAGCAGCCTCATTCTGGCTGTCACGCCCGCCAACATGGACCTGGCCAACTCCGACGCCCTCAAGCTGGCCAAGGAAGTCGATCCCCAAGGTAACCCTGAGCCTAGGGCAGTCCCCTCTTCCAGGTGCCTCTGAGCATGGGATGTGCCCAGCATCCTTGGTTCCAAGTCACTGGCGTTCTCTTTAATCCATGGCCGCTGTAGGAAAAGGCCTCCTGGAACATGGCACTTCCTCCGAGAACCAGCAGTGCTGGTGGGCATCCCCTGGGAAGTCACTGTGTGGCAGTTGGACGGTCCTCCTTGGACATGGCAGTGCCCATGTTGCCAGAGTGGGAAGCTAGCCTAGGGCTGAAGGAAGGGCCCAGCGCTCCATCGCCCAGATGCGATCTTAGGTCCCATCTAGCTGTTACTCTGCTCCCTGAGACATGGTCCCCTCTTAGTCAGAACGGGAACTTCAGTCCTAACCCAGATAGCTGATGTGAGGACTGTTGAACTTTTGGGTTGTTTCTGATCTTTGCATGGTGAGATCGTCTATTTCCCTTCGAGTTGACACCCCTGGGCCCCTCTAGTCAGATCCTTCTACTGAACCCTCACTGCAGAATGTGAGCAGGAAGGGGCCCCAGGGAGGGCACAGCTGTGGCCCCCTTGATGCCCAAATTGGCACCCACCAGAGATCTTCACTCTGGCTTCCATCTGTCCCCAGTGTCTCATGCACATGCCACACATATAACACACACGGTTAGCACAGAGCCAGGCCCTCAGCCCCCGTGGGAGCAGTTGATCTGCAGAGGTGAGACTTTGCTAGAAAGACATCCTTGACTCTGGAATGACTTGTGGAGAGGTGGAATTGGATGGGATGGTTTCCAGAGTGGAATTTTAGCCATTCAGGCAAGAGGTAGTCCTGGAAACAGTCGTGTCAAACTCAAATGTTCCCTTGGGACTTTGCCGGCACTTGGAAAGTCCAGCATCAAAATCTGGCCCAGGAATCATGTTTACGTGAGGTTTCCCAAAGCCTGCAGCAGCAGAGGTTGTCCTTAATAACACAAATGACAATAACGGCCAGCATTTGTTGAGTATTTGCCGTGTGCCAGGCTCACCCTTATGACCACCCTGTGAGATCAGGGCTGTGACCATCTTCATTCGACATGTCGGAAACTGGGGTCCAGGCCTGTGACGTTCTGGCTTTCCCAGGTGATGTGACCTGGAAGTTTCAGGGCCAACTGGACCCCAGGTGGCTTGCAGCTGCCAGCTGATGCTCTTTCCTGGTGGCAGCCTCTGACCTCTGACCTCTGGGCTCTTTCAGGCCTACGGACCATCGGTGTCATCACCAAGCTTGACCTGATGGACGAGGGCACCGACGCCAGGGACGTCTTGGAGAACAAGTTGCTCCCGTTGAGAAGAGGTGTGGCTTTGGGGGTGCTGGGGAAGCAGGAGGATGGGTGGGGTCCTTATCATTACTGAAACCCCAGCACCTGTTCCCTGCCTGCCTGGAAGTCATTGCTTCTCCATTTCACCGTAACTCCTTCTTTCTTTTCCCTTTGAGCTATGTATCTTTTTCTTCTGATTTGTATGCATTCGTTTTTCAAGTGCACAATTAACACCTGCTGGTTTCTGAAACATTAGAAAACAAGTGTATAGAAAGAGGAAACTAAACTCACCCGCAGCCACACTTCCCCCAGACAGCCACTGGTGAATCTGCAGCTCCCAGCTCCCCAGGGTTTATAACTTTAATTAATTTTTTTATTACTTTCTATTATGAGCCTTCCCTTCCCTTTTCCTTTTCCTTTTTGTTTTTTGAGACGGAGTTTTTGCTCTTGTCACCCAAGCTATAGTACAGTGGCACAATCTCAGCTCACTGCAACCTCCGCCTCCCAGGTTCAACTGATTCTCCTGCCCCAGCTTCCTGAGTAGCTGGGATTACAAGTGGGCACCACCACGCCCAGCTAGTTTTTGTATTTTTACTAGAGACGGGGTTTCACTGTGTTGGCCAAGCTGGTCTCAAACTCCTGACTTCAGGTGATCCACTTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGCCATGAGCCACCGCACCCGGCCTATTATGAGCATTTTCAAACATTCCCAAAAGTGTGGAAAAAAGTTCAAAGAATCCTCGTGGATGGCTTCCCCAGCTTCGGTGGTTATTATTATTATTTTCTTCCTGGAATATTTTATTTTTTCATTTTATTTATTTATTTATTTATTTATTTATTTATTTATGAGACGGAGTCTCTGTTGCCCAGGCTGGAGTGCAATGGTGCAGTCTGGGCTCACTGCAACCTCCACCTCCCAGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGCCAGCCACCACGCGTGGCTAATTTTTGTATTTTTAATTGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTGCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCACCCGGCCATCTTCCTGGAAGATTTTAACACAAATCCTAGGCACTGGCTGGGCGAGGTGGCTCACGCCTGTAATCTCAGTGCTTTGGGAGGCTGAGGCAGGAGGATGCCTTGAGGCTGGGAGTTCAAGACTAGCCTGGGCAACATATCAAGTCCCTGTCTCTACTAAAGATTAAAAAGTTAGCTGGGCATGGTGGCATACACCTATAGTCCCACCTACTTAAGAGGCTGAGGTGGGAAGATTGCTTGAGCCCAGGAGTTCGAAGCTGCAGTGAGCTATGATCACACTACTACACTCTAGCCTGCACAACAGAGCAAGATCTTGCCTCTAAAAAAAAAAAAATTCTATAAATCCTAGGCATTGTAGCATTTTACACATAAATACCCACATTTCTTTTCAAATACTTCCCCTTGCCATCCCATTTGTTTTTTTCTATACCATTCATTTGTGGAAGAAACCAGACCACATCCCACATTTGGGATTTGGCCAATTATTGTTCTCTGTTAGCTGGTAATTAGATCAGGTTCAGGTTCAAGTTCAGGTACAGATCTTCTGATAGGAGTAACCTAAGTATTTTTTATTTTATTTTAAAAATATTTTAAATATTTTGGGTCGGGCATGGTGACTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCACAAGGTCAGGAGATCAAGACCATCCTTGCTAACACAGTGAAATGTTGTCTGTACTAAAAATACAAAAAATTAGCCAGGCGTGGTGGCACACACTTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTT | TGGGATGACAGGCATGAGTCACCGCGCCTGGCCTCATCCATTTGTCTTTTGTTTTTGTTTTTTTGAGACAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTATGATCTCAGCTCACTGCAACCTCCACCTTCTGGGTTCAAGTGTTTCTCATGCCTCAGCCTCCAGAGTAGCTGGGAGTACAAGTGTGTGCTACCACGCCCAGCTAATTTTTGTATACTTAGTACAGATGGGGTTTTGCCATGTTGGCTAGGCTGGTCTAGAACTCCTGGCCTCAAGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTGCAGATGTGAGCCACCGCACCCAGCCTCATCTGTTTGTCTGTAATGGTTCTTTGGTATTGGCTGAATGGATGGGCTGAAATTTATTCAGTCATTTAGGTCTATTCCAGTCTGAACTGTCCTGATTTAGAACTGTGCCATTGAAATGGAGTAGGTAGAAGGTATCTGTAGGATGGGATCCTAGAAGGGGAGTTACTGGATCAAAGGTGTGGTTCAGGCAGAGTGTCAGGCGACATCCTCAAGTCTGAGCCCCGCGCAGGAACTTTGGTAGTCAGCTGGGTGGCTGCGGGCCTGTTTGTGCCTCCCCTCTCCTGGCTCTGAATGCCTTTCCTTCTGGTTTCCCTCCCAGTGTTGAACTTGACCCTCATCGACCTCCCGGGTATCACCAAGGTGCCTGTGGGCGACCAGCCTCCAGACATCGAGTACCAGATCAAGGACATGATCCTGCAGTTCATCAGCCGGGAGAGCAGCCTCATTCTGGCTGTCACGCCCGCCAACATGGACCTGGCCAACTCCGACGCCCTCAAGCTGGCCAAGGAAGTCGATCCCCAAGGTAACCCTGAGCCTAGGGCAGTCCCCTCTTCCAGGTGCCTCTGAGCATGGGATGTGCCCAGCATCCTTGGTTCCAAGTCACTGGCGTTCTCTTTAATCCATGGCCGCTGTAGGAAAAGGCCTCCTGGAACATGGCACTTCCTCCGAGAACCAGCAGTGCTGGTGGGCATCCCCTGGGAAGTCACTGTGTGGCAGTTGGACGGTCCTCCTTGGACATGGCAGTGCCCATGTTGCCAGAGTGGGAAGCTAGCCTAGGGCTGAAGGAAGGGCCCAGCGCTCCATCGCCCAGATGCGATCTTAGGTCCCATCTAGCTGTTACTCTGCTCCCTGAGACATGGTCCCCTCTTAGTCAGAACGGGAACTTCAGTCCTAACCCAGATAGCTGATGTGAGGACTGTTGAACTTTTGGGTTGTTTCTGATCTTTGCATGGTGAGATCGTCTATTTCCCTTCGAGTTGACACCCCTGGGCCCCTCTAGTCAGATCCTTCTACTGAACCCTCACTGCAGAATGTGAGCAGGAAGGGGCCCCAGGGAGGGCACAGCTGTGGCCCCCTTGATGCCCAAATTGGCACCCACCAGAGATCTTCACTCTGGCTTCCATCTGTCCCCAGTGTCTCATGCACATGCCACACATATAACACACACGGTTAGCACAGAGCCAGGCCCTCAGCCCCCGTGGGAGCAGTTGATCTGCAGAGGTGAGACTTTGCTAGAAAGACATCCTTGACTCTGGAATGACTTGTGGAGAGGTGGAATTGGATGGGATGGTTTCCAGAGTGGAATTTTAGCCATTCAGGCAAGAGGTAGTCCTGGAAACAGTCGTGTCAAACTCAAATGTTCCCTTGGGACTTTGCCGGCACTTGGAAAGTCCAGCATCAAAATCTGGCCCAGGAATCATGTTTACGTGAGGTTTCCCAAAGCCTGCAGCAGCAGAGGTTGTCCTTAATAACACAAATGACAATAACGGCCAGCATTTGTTGAGTATTTGCCGTGTGCCAGGCTCACCCTTATGACCACCCTGTGAGATCAGGGCTGTGACCATCTTCATTCGACATGTCGGAAACTGGGGTCCAGGCCTGTGACGTTCTGGCTTTCCCAGGTGATGTGACCTGGAAGTTTCAGGGCCAACTGGACCCCAGGTGGCTTGCAGCTGCCAGCTGATGCTCTTTCCTGGTGGCAGCCTCTGACCTCTGACCTCTGACCTCTGGGCTCTTTCAGGCCTACGGACCATCGGTGTCATCACCAAGCTTGACCTGATGGACGAGGGCACCGACGCCAGGGACGTCTTGGAGAACAAGTTGCTCCCGTTGAGAAGAGGTGTGGCTTTGGGGGTGCTGGGGAAGCAGGAGGATGGGTGGGGTCCTTATCATTACTGAAACCCCAGCACCTGTTCCCTGCCTGCCTGGAAGTCATTGCTTCTCCATTTCACCGTAACTCCTTCTTTCTTTTCCCTTTGAGCTATGTATCTTTTTCTTCTGATTTGTATGCATTCGTTTTTCAAGTGCACAATTAACACCTGCTGGTTTCTGAAACATTAGAAAACAAGTGTATAGAAAGAGGAAACTAAACTCACCCGCAGCCACACTTCCCCCAGACAGCCACTGGTGAATCTGCAGCTCCCAGCTCCCCAGGGTTTATAACTTTAATTAATTTTTTTATTACTTTCTATTATGAGCCTTCCCTTCCCTTTTCCTTTTCCTTTTTGTTTTTTGAGACGGAGTTTTTGCTCTTGTCACCCAAGCTATAGTACAGTGGCACAATCTCAGCTCACTGCAACCTCCGCCTCCCAGGTTCAACTGATTCTCCTGCCCCAGCTTCCTGAGTAGCTGGGATTACAAGTGGGCACCACCACGCCCAGCTAGTTTTTGTATTTTTACTAGAGACGGGGTTTCACTGTGTTGGCCAAGCTGGTCTCAAACTCCTGACTTCAGGTGATCCACTTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGCCATGAGCCACCGCACCCGGCCTATTATGAGCATTTTCAAACATTCCCAAAAGTGTGGAAAAAAGTTCAAAGAATCCTCGTGGATGGCTTCCCCAGCTTCGGTGGTTATTATTATTATTTTCTTCCTGGAATATTTTATTTTTTCATTTTATTTATTTATTTATTTATTTATTTATTTATTTATGAGACGGAGTCTCTGTTGCCCAGGCTGGAGTGCAATGGTGCAGTCTGGGCTCACTGCAACCTCCACCTCCCAGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGCCAGCCACCACGCGTGGCTAATTTTTGTATTTTTAATTGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTGCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCACCCGGCCATCTTCCTGGAAGATTTTAACACAAATCCTAGGCACTGGCTGGGCGAGGTGGCTCACGCCTGTAATCTCAGTGCTTTGGGAGGCTGAGGCAGGAGGATGCCTTGAGGCTGGGAGTTCAAGACTAGCCTGGGCAACATATCAAGTCCCTGTCTCTACTAAAGATTAAAAAGTTAGCTGGGCATGGTGGCATACACCTATAGTCCCACCTACTTAAGAGGCTGAGGTGGGAAGATTGCTTGAGCCCAGGAGTTCGAAGCTGCAGTGAGCTATGATCACACTACTACACTCTAGCCTGCACAACAGAGCAAGATCTTGCCTCTAAAAAAAAAAAAATTCTATAAATCCTAGGCATTGTAGCATTTTACACATAAATACCCACATTTCTTTTCAAATACTTCCCCTTGCCATCCCATTTGTTTTTTTCTATACCATTCATTTGTGGAAGAAACCAGACCACATCCCACATTTGGGATTTGGCCAATTATTGTTCTCTGTTAGCTGGTAATTAGATCAGGTTCAGGTTCAAGTTCAGGTACAGATCTTCTGATAGGAGTAACCTAAGTATTTTTTATTTTATTTTAAAAATATTTTAAATATTTTGGGTCGGGCATGGTGACTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCACAAGGTCAGGAGATCAAGACCATCCTTGCTAACACAGTGAAATGTTGTCTGTACTAAAAATACAAAAAATTAGCCAGGCGTGGTGGCACACACTTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGA | benign | 296,193 |
Mutation at chromosome 19, position 10823776, within DNM2 (dynamin 2): benign or pathogenic? If pathogenic, indicate the disease(s). | benign | TCCATATTGGTCAGGCTGGGCTCGAACTCCCAACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCTACTGCACCTGGCCCAAAACCCCGACTTCTACTTCTTTGTCCAAAATGGCTGCCCAGACTCCAGCCATTGTGATGATGTCCCAGGCAGCAGCAGGAAGGAGAGGAGGAGCTACAAGGGCATGCCTCTCCCCACACAACCTCATCCAGAGGTCGTTCGGGGCAGCCACTTGCTGACCACAAACCCAACTCTCACTTAAAGGCTTTGTGGGCAGCTTGGCTGTCTTAACCACACCTGGATGTGGGACAGGAAAATGTGCGTGGCATGTGGCACGGGGCCTGGCCTGTAGACCACCATCTGCAAGCACTGTTTAGCATCCATTCCATTTATCTCCCAGCTTTGAGACCCTGGTTCTTTTTTCTTTTTCTTTTTCTTTTTTTTTTTTTTTTGAGATGGAGTCTTCCTCTGTCACCCACCCAGGCTGGAGTGCAGTGGCATGATCTCAGCTCATTGTAGCCTCCACCTCCCATGCTCAAGTGATCCTCCCGCCTCGGCCTCCCGAGTAGCTGGGACTACAGGCGCACACCACCATGCCCAGCTAATTTTTGTATTTTCTGTAGAGATGGGGGTGTTGCTGTGTTGCTCAGGCTGGTCTCCAACTCCTGAGCTCAAGCAATCCCCCTGTCTCAGCCTCCCAAAGTGCAGGAATTACAGGTATGAGCCACCATGCCTAAACTTTACAAAAATTTTTTTGTTTTGTTTTGATACATAGTCTCACTCTGTCGCCCAGGCTGGAGACAGTGGCACAATCTTGGCTCACTGCAACTTCCACCTCCCAGGTTTAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCAGTACCACTCCCAGCTAATTTTTTGTATTTTAGTATTGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGTTGATCCTCCTGCCTCAGCTTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGTGCCCAGCCAAAACTTTTTTTATAAAAAACACACAGGCCGGGCACGGGGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTAGGTCACGAGGTCAGAAGATCGAGATCATCCTGGCGAACACGGTGAAACCCCGTCTCTACTAAAAATGCAAAAAATTAGCTGGGGTGGTGGCAGGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGTGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCTGTCTCAAAAACAAAACAAAACACATTCGGGCACAGTGGCTCACACCTGTAATCTCAGAACTTTGGGAAGCCGAGGTGGGCGGATCAGCTGAGGTCAGGAGTTCGAGACCAGCCTGACCAACATGGAGAAACCCCATCTCTACTAAAAATACTAAAATTAGCCAGGTGTGGTGGCGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGAAAGGTGGAGGTTGCGGTGAGCCGAGATTGCGCCATTGCACTCCAGCCTGGACAACAAAAGCGAAACTCCGTCTCAAAAAAAAAAAATAAATAATAATAATAATAATAAAGTTCTGGTGGACAGTGCTGCTCTGGGCTTTCCTGAAAATGCCCCAGTGGGAGCTTCCCAGCCACAGTTGGTGTCGAGGGTCACATGCCCACCTCTGGGGGCCCAGGAAAAGAGAAGAGTCAGCTGATCCAACAGAAACAAAGAAACTCAGACACTTGCCGAGCTTGTGCACAGCGCTCTTCTGTGTAGGCGTCACTCACGGTGACCCCTCAGCATGACCAGGTGAAGCCTGGGTTGGGTTTGGGTTCCTGATCAGTCAGAAAGACCCCTAGAGCCCATTCCTCTCGGCAGTCTGCCAGACCCATGGCAGGGTCAAGCTTGTGCCCCTCCTTCCCCACCCCCCCGCAGAAACGTCTACAAGGACCTGCGGCAGATCGAGCTGGCCTGTGACTCCCAGGAAGACGTGGACAGCTGGAAGGCCTCGTTCCTCCGAGCTGGCGTCTACCCCGAGAAGGACCAGGTGAGGAGCCGTCCTGCGCAGCCAGGCCCAGAGCCCCCACCTGGGAGAGGAAGCAGGGCTGGCTTTCCCCAGGACAGGTCATTTTCAGGCCATGTTAGCCAGGAGTCTCTGAAATCATGTAGCAGATGCCCACTTGAGCAAGCAAAGGAGAAATTGGGGGTACTTTGTCATCAGGGCCCAGAAAGTTCCCTCACGGAAGCCAGTGACCGGGGCACACAGGGGATGGGGTCCCACTTGCTTTGTTCTCTTCTCTTTTCCCCTTCCATCCTGAGGTAGAGTGAACATGGCCACCCTTGGCCCCAATATTAAAATGCCTTGCCGGGCACGGTGGGTGGTTCGCCCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCAGATCATTTGAGCTCAGGGGTTCGAAACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAACTACAAAAATTAGCCAGGCATGGTGGTACGTGCCTGTAATCCCAGTTACTCAGGAGGCTTAGGCAGGAGATCGCTTAAACCCGGGAGGTAGAGGTTGCAGTGAGCTGAGATCACGCCATTGCACTCCAGCCTGGGCGACAGAGCAAGACTCCATCTCAAAAATAAAATAAAATGTCCCAAGGTTGGGTGTGGTGGCTTACACCTGCAATCCCAACACTTTGGGAGGCAATGTGGGCAGATCCTTTGGGCCCAGGAGTTCGAAAACAGCCTGGGCAATGTTGCAAAACCCTTCTCTCCAAAAAATACAAACATACCCAGGCATGGTGGCGCACCCCTGTAATCCCATCTACTCCAGGGCGCTGAGGTGGGAGGATCACTTGAGCTCTCCCTGGGAGGTTGAGGCTGCGGTGAACTGTGTTTGTGCCACTGCACTGCAGCCTGGGTGACATAGCAAGACTGTGTCAAAAAAAAACAAAACAAAAAAACAACGTTCCAATGCCCAGGTGAGGGGATCCACCCCAGCATCAGCCAGGGTCACCCCATTGTTTGGGCAGCTCTGGCCCAGGGCAAGCAGGCCTATCTGGTGCCAGTGGGGCTGTCAGGGGCCAGCCTGAGGTCAGTTATTGGTGGGACAATAGGGCAGATGGTTTCCAGAGAACCAGGACTTGGCCCAGGCCACAGTCACCCCTCAGCACCTCCCCTCCCGCTTGCAGGCAGAAAACGAGGATGGGGCCCAGGAGAACACCTTCTCCATGGACCCCCAACTGGAGCGGCAGGTGGAGACCATTCGCAACCTGGTGGACTCATACGTGGCCATCATCAACAAGTCCATCCGCGACCTCATGCCAAAGACCATCATGCACCTCATGATCAACAATGTGAGTGGAGAACTAAAAATGAGAAGGAGGTAGCTGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAAAACGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGGCTGGGCGCGGTGGCTCACACCTGTAATCCCAGCACTTTGCGAGGCCAAGGCGGGCGGATCACGAGCTAAGGAGTTCGAGACTAGACTGACCAACATGGTGAAACCCCATCTCTACTAAATATACAAAAATTAGCCGGGCACGGTAGCTCACGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGGGAATCGCTTGAACCCAAGAGGCAGAGGTTGTGGTAAGCCTAGAGTGCACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCGTCTCAAGAAAAGAGAGAGAGAGAGAGAGAAAAATACAAAAAGTAGCCGGGCATGGTGGCGGGTGCCTGTAATCCAGCTACCCGGGAAGCTGAGGCAGGACAATTACTTGAACCTGGGAGATGGAGATGGCAGTGAGCCAAGATCGTGCCACTGCACTCC | TCCATATTGGTCAGGCTGGGCTCGAACTCCCAACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCTACTGCACCTGGCCCAAAACCCCGACTTCTACTTCTTTGTCCAAAATGGCTGCCCAGACTCCAGCCATTGTGATGATGTCCCAGGCAGCAGCAGGAAGGAGAGGAGGAGCTACAAGGGCATGCCTCTCCCCACACAACCTCATCCAGAGGTCGTTCGGGGCAGCCACTTGCTGACCACAAACCCAACTCTCACTTAAAGGCTTTGTGGGCAGCTTGGCTGTCTTAACCACACCTGGATGTGGGACAGGAAAATGTGCGTGGCATGTGGCACGGGGCCTGGCCTGTAGACCACCATCTGCAAGCACTGTTTAGCATCCATTCCATTTATCTCCCAGCTTTGAGACCCTGGTTCTTTTTTCTTTTTCTTTTTCTTTTTTTTTTTTTTTTGAGATGGAGTCTTCCTCTGTCACCCACCCAGGCTGGAGTGCAGTGGCATGATCTCAGCTCATTGTAGCCTCCACCTCCCATGCTCAAGTGATCCTCCCGCCTCGGCCTCCCGAGTAGCTGGGACTACAGGCGCACACCACCATGCCCAGCTAATTTTTGTATTTTCTGTAGAGATGGGGGTGTTGCTGTGTTGCTCAGGCTGGTCTCCAACTCCTGAGCTCAAGCAATCCCCCTGTCTCAGCCTCCCAAAGTGCAGGAATTACAGGTATGAGCCACCATGCCTAAACTTTACAAAAATTTTTTTGTTTTGTTTTGATACATAGTCTCACTCTGTCGCCCAGGCTGGAGACAGTGGCACAATCTTGGCTCACTGCAACTTCCACCTCCCAGGTTTAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCAGTACCACTCCCAGCTAATTTTTTGTATTTTAGTATTGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGTTGATCCTCCTGCCTCAGCTTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGTGCCCAGCCAAAACTTTTTTTATAAAAAACACACAGGCCGGGCACGGGGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTAGGTCACGAGGTCAGAAGATCGAGATCATCCTGGCGAACACGGTGAAACCCCGTCTCTACTAAAAATGCAAAAAATTAGCTGGGGTGGTGGCAGGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGTGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCTGTCTCAAAAACAAAACAAAACACATTCGGGCACAGTGGCTCACACCTGTAATCTCAGAACTTTGGGAAGCCGAGGTGGGCGGATCAGCTGAGGTCAGGAGTTCGAGACCAGCCTGACCAACATGGAGAAACCCCATCTCTACTAAAAATACTAAAATTAGCCAGGTGTGGTGGCGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGAAAGGTGGAGGTTGCGGTGAGCCGAGATTGCGCCATTGCACTCCAGCCTGGACAACAAAAGCGAAACTCCGTCTCAAAAAAAAAAAATAAATAATAATAATAATAATAAAGTTCTGGTGGACAGTGCTGCTCTGGGCTTTCCTGAAAATGCCCCAGTGGGAGCTTCCCAGCCACAGTTGGTGTCGAGGGTCACATGCCCACCTCTGGGGGCCCAGGAAAAGAGAAGAGTCAGCTGATCCAACAGAAACAAAGAAACTCAGACACTTGCCGAGCTTGTGCACAGCGCTCTTCTGTGTAGGCGTCACTCACGGTGACCCCTCAGCATGACCAGGTGAAGCCTGGGTTGGGTTTGGGTTCCTGATCAGTCAGAAAGACCCCTAGAGCCCATTCCTCTCGGCAGTCTGCCAGACCCATGGCAGGGTCAAGCTTGTGCCCCTCCTTCCCCACCCCCCCCGCAGAAACGTCTACAAGGACCTGCGGCAGATCGAGCTGGCCTGTGACTCCCAGGAAGACGTGGACAGCTGGAAGGCCTCGTTCCTCCGAGCTGGCGTCTACCCCGAGAAGGACCAGGTGAGGAGCCGTCCTGCGCAGCCAGGCCCAGAGCCCCCACCTGGGAGAGGAAGCAGGGCTGGCTTTCCCCAGGACAGGTCATTTTCAGGCCATGTTAGCCAGGAGTCTCTGAAATCATGTAGCAGATGCCCACTTGAGCAAGCAAAGGAGAAATTGGGGGTACTTTGTCATCAGGGCCCAGAAAGTTCCCTCACGGAAGCCAGTGACCGGGGCACACAGGGGATGGGGTCCCACTTGCTTTGTTCTCTTCTCTTTTCCCCTTCCATCCTGAGGTAGAGTGAACATGGCCACCCTTGGCCCCAATATTAAAATGCCTTGCCGGGCACGGTGGGTGGTTCGCCCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCAGATCATTTGAGCTCAGGGGTTCGAAACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAACTACAAAAATTAGCCAGGCATGGTGGTACGTGCCTGTAATCCCAGTTACTCAGGAGGCTTAGGCAGGAGATCGCTTAAACCCGGGAGGTAGAGGTTGCAGTGAGCTGAGATCACGCCATTGCACTCCAGCCTGGGCGACAGAGCAAGACTCCATCTCAAAAATAAAATAAAATGTCCCAAGGTTGGGTGTGGTGGCTTACACCTGCAATCCCAACACTTTGGGAGGCAATGTGGGCAGATCCTTTGGGCCCAGGAGTTCGAAAACAGCCTGGGCAATGTTGCAAAACCCTTCTCTCCAAAAAATACAAACATACCCAGGCATGGTGGCGCACCCCTGTAATCCCATCTACTCCAGGGCGCTGAGGTGGGAGGATCACTTGAGCTCTCCCTGGGAGGTTGAGGCTGCGGTGAACTGTGTTTGTGCCACTGCACTGCAGCCTGGGTGACATAGCAAGACTGTGTCAAAAAAAAACAAAACAAAAAAACAACGTTCCAATGCCCAGGTGAGGGGATCCACCCCAGCATCAGCCAGGGTCACCCCATTGTTTGGGCAGCTCTGGCCCAGGGCAAGCAGGCCTATCTGGTGCCAGTGGGGCTGTCAGGGGCCAGCCTGAGGTCAGTTATTGGTGGGACAATAGGGCAGATGGTTTCCAGAGAACCAGGACTTGGCCCAGGCCACAGTCACCCCTCAGCACCTCCCCTCCCGCTTGCAGGCAGAAAACGAGGATGGGGCCCAGGAGAACACCTTCTCCATGGACCCCCAACTGGAGCGGCAGGTGGAGACCATTCGCAACCTGGTGGACTCATACGTGGCCATCATCAACAAGTCCATCCGCGACCTCATGCCAAAGACCATCATGCACCTCATGATCAACAATGTGAGTGGAGAACTAAAAATGAGAAGGAGGTAGCTGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAAAACGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGGCTGGGCGCGGTGGCTCACACCTGTAATCCCAGCACTTTGCGAGGCCAAGGCGGGCGGATCACGAGCTAAGGAGTTCGAGACTAGACTGACCAACATGGTGAAACCCCATCTCTACTAAATATACAAAAATTAGCCGGGCACGGTAGCTCACGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGGGAATCGCTTGAACCCAAGAGGCAGAGGTTGTGGTAAGCCTAGAGTGCACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCGTCTCAAGAAAAGAGAGAGAGAGAGAGAGAAAAATACAAAAAGTAGCCGGGCATGGTGGCGGGTGCCTGTAATCCAGCTACCCGGGAAGCTGAGGCAGGACAATTACTTGAACCTGGGAGATGGAGATGGCAGTGAGCCAAGATCGTGCCACTGCACTC | benign | 296,267 |
Evaluate the clinical significance of the mutation at chromosome 19, position 10823776 in gene DNM2 (dynamin 2): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | benign | TCCATATTGGTCAGGCTGGGCTCGAACTCCCAACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCTACTGCACCTGGCCCAAAACCCCGACTTCTACTTCTTTGTCCAAAATGGCTGCCCAGACTCCAGCCATTGTGATGATGTCCCAGGCAGCAGCAGGAAGGAGAGGAGGAGCTACAAGGGCATGCCTCTCCCCACACAACCTCATCCAGAGGTCGTTCGGGGCAGCCACTTGCTGACCACAAACCCAACTCTCACTTAAAGGCTTTGTGGGCAGCTTGGCTGTCTTAACCACACCTGGATGTGGGACAGGAAAATGTGCGTGGCATGTGGCACGGGGCCTGGCCTGTAGACCACCATCTGCAAGCACTGTTTAGCATCCATTCCATTTATCTCCCAGCTTTGAGACCCTGGTTCTTTTTTCTTTTTCTTTTTCTTTTTTTTTTTTTTTTGAGATGGAGTCTTCCTCTGTCACCCACCCAGGCTGGAGTGCAGTGGCATGATCTCAGCTCATTGTAGCCTCCACCTCCCATGCTCAAGTGATCCTCCCGCCTCGGCCTCCCGAGTAGCTGGGACTACAGGCGCACACCACCATGCCCAGCTAATTTTTGTATTTTCTGTAGAGATGGGGGTGTTGCTGTGTTGCTCAGGCTGGTCTCCAACTCCTGAGCTCAAGCAATCCCCCTGTCTCAGCCTCCCAAAGTGCAGGAATTACAGGTATGAGCCACCATGCCTAAACTTTACAAAAATTTTTTTGTTTTGTTTTGATACATAGTCTCACTCTGTCGCCCAGGCTGGAGACAGTGGCACAATCTTGGCTCACTGCAACTTCCACCTCCCAGGTTTAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCAGTACCACTCCCAGCTAATTTTTTGTATTTTAGTATTGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGTTGATCCTCCTGCCTCAGCTTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGTGCCCAGCCAAAACTTTTTTTATAAAAAACACACAGGCCGGGCACGGGGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTAGGTCACGAGGTCAGAAGATCGAGATCATCCTGGCGAACACGGTGAAACCCCGTCTCTACTAAAAATGCAAAAAATTAGCTGGGGTGGTGGCAGGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGTGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCTGTCTCAAAAACAAAACAAAACACATTCGGGCACAGTGGCTCACACCTGTAATCTCAGAACTTTGGGAAGCCGAGGTGGGCGGATCAGCTGAGGTCAGGAGTTCGAGACCAGCCTGACCAACATGGAGAAACCCCATCTCTACTAAAAATACTAAAATTAGCCAGGTGTGGTGGCGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGAAAGGTGGAGGTTGCGGTGAGCCGAGATTGCGCCATTGCACTCCAGCCTGGACAACAAAAGCGAAACTCCGTCTCAAAAAAAAAAAATAAATAATAATAATAATAATAAAGTTCTGGTGGACAGTGCTGCTCTGGGCTTTCCTGAAAATGCCCCAGTGGGAGCTTCCCAGCCACAGTTGGTGTCGAGGGTCACATGCCCACCTCTGGGGGCCCAGGAAAAGAGAAGAGTCAGCTGATCCAACAGAAACAAAGAAACTCAGACACTTGCCGAGCTTGTGCACAGCGCTCTTCTGTGTAGGCGTCACTCACGGTGACCCCTCAGCATGACCAGGTGAAGCCTGGGTTGGGTTTGGGTTCCTGATCAGTCAGAAAGACCCCTAGAGCCCATTCCTCTCGGCAGTCTGCCAGACCCATGGCAGGGTCAAGCTTGTGCCCCTCCTTCCCCACCCCCCCGCAGAAACGTCTACAAGGACCTGCGGCAGATCGAGCTGGCCTGTGACTCCCAGGAAGACGTGGACAGCTGGAAGGCCTCGTTCCTCCGAGCTGGCGTCTACCCCGAGAAGGACCAGGTGAGGAGCCGTCCTGCGCAGCCAGGCCCAGAGCCCCCACCTGGGAGAGGAAGCAGGGCTGGCTTTCCCCAGGACAGGTCATTTTCAGGCCATGTTAGCCAGGAGTCTCTGAAATCATGTAGCAGATGCCCACTTGAGCAAGCAAAGGAGAAATTGGGGGTACTTTGTCATCAGGGCCCAGAAAGTTCCCTCACGGAAGCCAGTGACCGGGGCACACAGGGGATGGGGTCCCACTTGCTTTGTTCTCTTCTCTTTTCCCCTTCCATCCTGAGGTAGAGTGAACATGGCCACCCTTGGCCCCAATATTAAAATGCCTTGCCGGGCACGGTGGGTGGTTCGCCCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCAGATCATTTGAGCTCAGGGGTTCGAAACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAACTACAAAAATTAGCCAGGCATGGTGGTACGTGCCTGTAATCCCAGTTACTCAGGAGGCTTAGGCAGGAGATCGCTTAAACCCGGGAGGTAGAGGTTGCAGTGAGCTGAGATCACGCCATTGCACTCCAGCCTGGGCGACAGAGCAAGACTCCATCTCAAAAATAAAATAAAATGTCCCAAGGTTGGGTGTGGTGGCTTACACCTGCAATCCCAACACTTTGGGAGGCAATGTGGGCAGATCCTTTGGGCCCAGGAGTTCGAAAACAGCCTGGGCAATGTTGCAAAACCCTTCTCTCCAAAAAATACAAACATACCCAGGCATGGTGGCGCACCCCTGTAATCCCATCTACTCCAGGGCGCTGAGGTGGGAGGATCACTTGAGCTCTCCCTGGGAGGTTGAGGCTGCGGTGAACTGTGTTTGTGCCACTGCACTGCAGCCTGGGTGACATAGCAAGACTGTGTCAAAAAAAAACAAAACAAAAAAACAACGTTCCAATGCCCAGGTGAGGGGATCCACCCCAGCATCAGCCAGGGTCACCCCATTGTTTGGGCAGCTCTGGCCCAGGGCAAGCAGGCCTATCTGGTGCCAGTGGGGCTGTCAGGGGCCAGCCTGAGGTCAGTTATTGGTGGGACAATAGGGCAGATGGTTTCCAGAGAACCAGGACTTGGCCCAGGCCACAGTCACCCCTCAGCACCTCCCCTCCCGCTTGCAGGCAGAAAACGAGGATGGGGCCCAGGAGAACACCTTCTCCATGGACCCCCAACTGGAGCGGCAGGTGGAGACCATTCGCAACCTGGTGGACTCATACGTGGCCATCATCAACAAGTCCATCCGCGACCTCATGCCAAAGACCATCATGCACCTCATGATCAACAATGTGAGTGGAGAACTAAAAATGAGAAGGAGGTAGCTGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAAAACGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGGCTGGGCGCGGTGGCTCACACCTGTAATCCCAGCACTTTGCGAGGCCAAGGCGGGCGGATCACGAGCTAAGGAGTTCGAGACTAGACTGACCAACATGGTGAAACCCCATCTCTACTAAATATACAAAAATTAGCCGGGCACGGTAGCTCACGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGGGAATCGCTTGAACCCAAGAGGCAGAGGTTGTGGTAAGCCTAGAGTGCACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCGTCTCAAGAAAAGAGAGAGAGAGAGAGAGAAAAATACAAAAAGTAGCCGGGCATGGTGGCGGGTGCCTGTAATCCAGCTACCCGGGAAGCTGAGGCAGGACAATTACTTGAACCTGGGAGATGGAGATGGCAGTGAGCCAAGATCGTGCCACTGCACTCC | TCCATATTGGTCAGGCTGGGCTCGAACTCCCAACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCTACTGCACCTGGCCCAAAACCCCGACTTCTACTTCTTTGTCCAAAATGGCTGCCCAGACTCCAGCCATTGTGATGATGTCCCAGGCAGCAGCAGGAAGGAGAGGAGGAGCTACAAGGGCATGCCTCTCCCCACACAACCTCATCCAGAGGTCGTTCGGGGCAGCCACTTGCTGACCACAAACCCAACTCTCACTTAAAGGCTTTGTGGGCAGCTTGGCTGTCTTAACCACACCTGGATGTGGGACAGGAAAATGTGCGTGGCATGTGGCACGGGGCCTGGCCTGTAGACCACCATCTGCAAGCACTGTTTAGCATCCATTCCATTTATCTCCCAGCTTTGAGACCCTGGTTCTTTTTTCTTTTTCTTTTTCTTTTTTTTTTTTTTTTGAGATGGAGTCTTCCTCTGTCACCCACCCAGGCTGGAGTGCAGTGGCATGATCTCAGCTCATTGTAGCCTCCACCTCCCATGCTCAAGTGATCCTCCCGCCTCGGCCTCCCGAGTAGCTGGGACTACAGGCGCACACCACCATGCCCAGCTAATTTTTGTATTTTCTGTAGAGATGGGGGTGTTGCTGTGTTGCTCAGGCTGGTCTCCAACTCCTGAGCTCAAGCAATCCCCCTGTCTCAGCCTCCCAAAGTGCAGGAATTACAGGTATGAGCCACCATGCCTAAACTTTACAAAAATTTTTTTGTTTTGTTTTGATACATAGTCTCACTCTGTCGCCCAGGCTGGAGACAGTGGCACAATCTTGGCTCACTGCAACTTCCACCTCCCAGGTTTAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCAGTACCACTCCCAGCTAATTTTTTGTATTTTAGTATTGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGTTGATCCTCCTGCCTCAGCTTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGTGCCCAGCCAAAACTTTTTTTATAAAAAACACACAGGCCGGGCACGGGGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTAGGTCACGAGGTCAGAAGATCGAGATCATCCTGGCGAACACGGTGAAACCCCGTCTCTACTAAAAATGCAAAAAATTAGCTGGGGTGGTGGCAGGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGTGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCTGTCTCAAAAACAAAACAAAACACATTCGGGCACAGTGGCTCACACCTGTAATCTCAGAACTTTGGGAAGCCGAGGTGGGCGGATCAGCTGAGGTCAGGAGTTCGAGACCAGCCTGACCAACATGGAGAAACCCCATCTCTACTAAAAATACTAAAATTAGCCAGGTGTGGTGGCGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGAAAGGTGGAGGTTGCGGTGAGCCGAGATTGCGCCATTGCACTCCAGCCTGGACAACAAAAGCGAAACTCCGTCTCAAAAAAAAAAAATAAATAATAATAATAATAATAAAGTTCTGGTGGACAGTGCTGCTCTGGGCTTTCCTGAAAATGCCCCAGTGGGAGCTTCCCAGCCACAGTTGGTGTCGAGGGTCACATGCCCACCTCTGGGGGCCCAGGAAAAGAGAAGAGTCAGCTGATCCAACAGAAACAAAGAAACTCAGACACTTGCCGAGCTTGTGCACAGCGCTCTTCTGTGTAGGCGTCACTCACGGTGACCCCTCAGCATGACCAGGTGAAGCCTGGGTTGGGTTTGGGTTCCTGATCAGTCAGAAAGACCCCTAGAGCCCATTCCTCTCGGCAGTCTGCCAGACCCATGGCAGGGTCAAGCTTGTGCCCCTCCTTCCCCACCCCCCGCAGAAACGTCTACAAGGACCTGCGGCAGATCGAGCTGGCCTGTGACTCCCAGGAAGACGTGGACAGCTGGAAGGCCTCGTTCCTCCGAGCTGGCGTCTACCCCGAGAAGGACCAGGTGAGGAGCCGTCCTGCGCAGCCAGGCCCAGAGCCCCCACCTGGGAGAGGAAGCAGGGCTGGCTTTCCCCAGGACAGGTCATTTTCAGGCCATGTTAGCCAGGAGTCTCTGAAATCATGTAGCAGATGCCCACTTGAGCAAGCAAAGGAGAAATTGGGGGTACTTTGTCATCAGGGCCCAGAAAGTTCCCTCACGGAAGCCAGTGACCGGGGCACACAGGGGATGGGGTCCCACTTGCTTTGTTCTCTTCTCTTTTCCCCTTCCATCCTGAGGTAGAGTGAACATGGCCACCCTTGGCCCCAATATTAAAATGCCTTGCCGGGCACGGTGGGTGGTTCGCCCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCAGATCATTTGAGCTCAGGGGTTCGAAACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAACTACAAAAATTAGCCAGGCATGGTGGTACGTGCCTGTAATCCCAGTTACTCAGGAGGCTTAGGCAGGAGATCGCTTAAACCCGGGAGGTAGAGGTTGCAGTGAGCTGAGATCACGCCATTGCACTCCAGCCTGGGCGACAGAGCAAGACTCCATCTCAAAAATAAAATAAAATGTCCCAAGGTTGGGTGTGGTGGCTTACACCTGCAATCCCAACACTTTGGGAGGCAATGTGGGCAGATCCTTTGGGCCCAGGAGTTCGAAAACAGCCTGGGCAATGTTGCAAAACCCTTCTCTCCAAAAAATACAAACATACCCAGGCATGGTGGCGCACCCCTGTAATCCCATCTACTCCAGGGCGCTGAGGTGGGAGGATCACTTGAGCTCTCCCTGGGAGGTTGAGGCTGCGGTGAACTGTGTTTGTGCCACTGCACTGCAGCCTGGGTGACATAGCAAGACTGTGTCAAAAAAAAACAAAACAAAAAAACAACGTTCCAATGCCCAGGTGAGGGGATCCACCCCAGCATCAGCCAGGGTCACCCCATTGTTTGGGCAGCTCTGGCCCAGGGCAAGCAGGCCTATCTGGTGCCAGTGGGGCTGTCAGGGGCCAGCCTGAGGTCAGTTATTGGTGGGACAATAGGGCAGATGGTTTCCAGAGAACCAGGACTTGGCCCAGGCCACAGTCACCCCTCAGCACCTCCCCTCCCGCTTGCAGGCAGAAAACGAGGATGGGGCCCAGGAGAACACCTTCTCCATGGACCCCCAACTGGAGCGGCAGGTGGAGACCATTCGCAACCTGGTGGACTCATACGTGGCCATCATCAACAAGTCCATCCGCGACCTCATGCCAAAGACCATCATGCACCTCATGATCAACAATGTGAGTGGAGAACTAAAAATGAGAAGGAGGTAGCTGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAAAACGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGGCTGGGCGCGGTGGCTCACACCTGTAATCCCAGCACTTTGCGAGGCCAAGGCGGGCGGATCACGAGCTAAGGAGTTCGAGACTAGACTGACCAACATGGTGAAACCCCATCTCTACTAAATATACAAAAATTAGCCGGGCACGGTAGCTCACGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGGGAATCGCTTGAACCCAAGAGGCAGAGGTTGTGGTAAGCCTAGAGTGCACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCGTCTCAAGAAAAGAGAGAGAGAGAGAGAGAAAAATACAAAAAGTAGCCGGGCATGGTGGCGGGTGCCTGTAATCCAGCTACCCGGGAAGCTGAGGCAGGACAATTACTTGAACCTGGGAGATGGAGATGGCAGTGAGCCAAGATCGTGCCACTGCACTCCN | benign | 296,268 |
Regarding the variant found on chromosome 19 at position 10986406 in gene SMARCA4 (SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Rhabdoid_tumor_predisposition_syndrome_2'] | GCACCAGATGCACAAGGTAGGGATCCCTGTGCCCGCCTCGCACCTGCGGCCTCTGCCCACTAGGGCTGCAGGCAGCCTCTGGACCGAGGGCCTTACTTGGAGGATGGGGGGAAGCCTTCTTGTTGGAGGTGTCCTGCCTTGGCTCAGCCCCCTACCCCAGGGCCCACGGCCATGAACAGAAGGTTCAGCTCGTCAGACCCCAGCCTGTGCTGGCGCATGATCTGGGCCCCGCGGGCACCTGCCCCACCGTTTCCCGCTCCCTTGCTTTCTGCATGTGAAATTTGGGAATATCACTACAAAGTTTTCTTTTGGTAATGAAGAAAAACATCCAAATTCCTAAAAAGGCTTTTAGCCACGTGGTTTCCCCCGTTCTGGCTGTCAGGCTCACCTGTGCAGCTCGCAGAGCCGAGCAGCGGGTTCCCTTTCCTCCAAGGCGTGCCCCTCAGCCACTGTCTTTACCTCACCTGCGCTGAGCAGGGCCTTCAGTCAGCAAGGTGGAGAAGGCTCTTTATGGTCACAAGTCTCTTTTGCATGTCCCTGGATGTGGTTAGAGGACATATTCCCTTATACATACAGCATCTGAAAGGAAAGGTCATATTAGCATCCATGAGAAAAGGTGACATTTCTAAGTGTCACGGGCCACAGGAGGTCCCGGGTGGTAGAAGATGAGGATTGCTTGACCACAGTCTCCCATATGCTCGTGCTCCACTGGGCGACATTTATTTTGTGTACCTGTCTCGAGGCCTAAGTAGGTGTCAGAACCTTGCCTTGGAGTCATGCTGGGGACTGGGGAGATGCGCGTCATCTTCGGGTGGCTGTTCTCGGTGCCCTCGAGCTTCTCTCGGGCAGCGCATAGCTGCGCTGCCACCTCACGTTCCACATGCTGACCCTGCCTTGCCATGGTCCCTCTCGCAGCCCATGGAGTCCATGCATGAGAAGGGCATGTCGGACGACCCGCGCTACAACCAGATGAAAGGAATGGGGATGCGGTCAGGGGGCCATGCTGGGATGGGGCCCCCGCCCAGCCCCATGGACCAGCACTCCCAAGGTACAGAACTGCGTTCCTTCCTGCCTTGTGTTTGTCATACTCCAGAGTCCTCAGATCATTTTCCTCCCCTGGGTTCCCACAGGATGGATTCAGGGAGTACCTAGGATGATGTAGCCGGGTGGGTGGCCCGCCACAGAGAGCTGTCTGGCATGGCGTGGCTGGTGCTCTGTTCTGGCCACCTCGTCTCGGAGCAGCCCTGGAAGGGGAAATGCTGGTTGGGGGGCAGACCATGTTCAGCATGGGTGATAGAGGAGGGCTGTGCAGGGCAGCAGCCCCGTGCCACCCAGGAACTTACTGGAAATACAGATTCCTGGGGCCTGGGACTCTGCTTTAATGAGCCCAGCAGGTGCCTTTTCTGTACGAGGACAATTGAGAAGTGATATGGTGGGTGACTTTCCAAGGCCTTGCTGTCATCAGGGGTGGGAAGCTCAGGGGCTGCACTGGGAATGGAAGTGTTGGGGGTGGGCCTGGCGAGCCCGAGGATGTGGACCCCGCCTGTGGACAGGCAGGCGGAAGCCGGGAGAGAGCCGTGATTTCATGCACAGGTTCTCAGCATTAACCAGAAGCACCTTACTGAGACGTGGGCCAAACCAAATCCACCAGGTCGGCTGCTGGGCTGAGGTGCCTTCAGCATGTGCCCTCCAGGTGCCCCTGGTTGACTCAAGAGAAGGATGCCATTTGGCTGTGCCCTGTCTCAGAGTAGGAGCTGGTGTAGGGGGAAGAGGCTGTAAAAATCACAGACATATGCTGCCGAGTGACCAGTGGGCTGACCTTTCTCTGCAGGTTACCCCTCGCCCCTGGGTGGCTCTGAGCATGCCTCTAGTCCAGTTCCAGCCAGTGGCCCGTCTTCGGGGCCCCAGATGTCTTCCGGGCCAGGAGGTGCCCCGCTGGATGGTGCTGACCCCCAGGCCTTGGGGCAGCAGAACCGGGGCCCAACCCCATTTAACCAGAACCAGCTGCACCAGCTCAGAGCTCAGATCATGGCCTACAAGATGCTGGCCAGGGGGCAGCCCCTCCCCGACCACCTGCAGATGGCGGTGCAGGGCAAGCGGCCGATGCCCGGGATGCAGCAGCAGATGCCAACGCTACCTCCACCCTCGGTGTCCGCAACAGGACCCGGCCCTGGCCCTGGCCCTGGCCCCGGCCCGGGTCCCGGCCCGGCACCTCCAAATTACAGCAGGCCTCATGGTAAGACTGGCTGCCCTGGCCCTCAGGTGTCTCAGAGCGAATGGCTGGGGCGTGGGTGGCGGGGTGGACAGACCGTGCTCTGTTGCCGACTGGGTTCCCCGGTTTGGGATTGCACGGGCCCATACTGCACTTCTGGGTGCTCGGGTGGTGGGGGCAGCTAAATGCTGCTTCCCCAGCTCCCCGCTTCCCCTGGGGCCGCTGGTTAATAGGTGTATCTGCTGTGTCCCCTGGAGCCAGGGCTGCCCACGGGGCTGGGCGCAGGCATAAACCTGGGACGCACTGTTTTCTCTTTTGTTTCTCCCTACATGTAGGTATGGGAGGGCCCAACATGCCTCCCCCAGGACCCTCGGGCGTGCCCCCCGGGATGCCAGGCCAGCCTCCTGGAGGGCCTCCCAAGCCCTGGCCTGAAGGTGAGCTCCCTCTTCTATGGTGGTGCACCCGTGCCCTTACTCCCCATCTCAAGCTTGGGTCCTTGAGATGAGCTTTGTCAGGGAGAAAGGGCCGAGGGTGGTCAGGCTGAACTGCAGCCTGTACTTTTCTTGTGGTGGTCCCCGGGTCTCCCCTGTAGCCAGTCAGTTCCCAAAGGCTGTCGTTCATCCCTCCTCTGACAGCTTGTGGCCTTCACCCAGTCCCTGAGCCCTGTATATGTAATTGCTCAGTAAGTGCTGCAGGCTCCCATCTGTTGGGCTCAAAGAGGCAGTGGGACTCATTACCCATCCTCTTGGAGCCTGAGGTTTAGCGATGGGCATTGAGGGGCAAATTGCTTCCACTGGATTTAGTTGGCACTAGGAGGAGATGACAGGAAATGCTGCCATAGAGCCACAGACAGAACAAAAAGGCCTTGGGAGCCTGGGGCTGGCCCCAGTGGAGGGTGTGAAGGACGAGGGTGAGGCTGAGATCTGGAGGAGGTTGGAGCCCAAGGCAGGTGTGAAGGACACCCCTGGGTGAAAGGTGGGAGATGGGCGGGGTCTGCCTGTCCCCAGTGCCTCAAGCAGCTCAGCAGCTTTCCATTTCCAGCCCGGGATGGGCCCCAGAGCTCAACATGACGCCCTGGCCCCTTGCCTTCTCCCAGGACCCATGGCGAATGCTGCTGCCCCCACGAGCACCCCTCAGAAGCTGATTCCCCCGCAGCCAACGGGCCGCCCTTCCCCCGCGCCCCCTGCCGTCCCACCCGCCGCCTCGCCCGTGATGCCACCGCAGACCCAGTCCCCCGGGCAGCCGGCCCAGCCCGCGCCCATGGTGCCACTGCACCAGAAGCAGAGCCGCATCACCCCCATCCAGAAGCCGCGGGGCCTCGACCCTGTGGAGATCCTGCAGGAGCGCGAGTACAGGTGAGGGCGGGGCCCAGTTGCCAAGGTCACTGCCCTGTGTCCCCCATGTCCCCCTGGGGAAGCCACTCAACTTTCTCCCCCACTCTAGCAAACAGTGCCCTGTGCCCACCACTGCCACTTGGCCTACACCTCCTTCCTCACCTCCCTGCTCCCACCCTGGCTGCGGTCTGTTTCCCACACAGCAGTTTGAGTTCTCTCTCTTTTTTTTTTTTTGAGACGGAGTTTCACTCTTGTTGCCCACGCTGGAGTGCAATGGCACAATCTCGGTTCACTGCAACCTGCATCTCCTGGCTTCAAGCGATTCTTCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGCATGCGCCACCACACCTGGCTAATTTTGTATTTATTTTAGTAGAGGCAGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAGCTCCTGACCTCAGATGCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCACCTGGCATGAATTCTCTTTTTATGATTGATATCAGATCTACTCCGTGGATTAAA | GCACCAGATGCACAAGGTAGGGATCCCTGTGCCCGCCTCGCACCTGCGGCCTCTGCCCACTAGGGCTGCAGGCAGCCTCTGGACCGAGGGCCTTACTTGGAGGATGGGGGGAAGCCTTCTTGTTGGAGGTGTCCTGCCTTGGCTCAGCCCCCTACCCCAGGGCCCACGGCCATGAACAGAAGGTTCAGCTCGTCAGACCCCAGCCTGTGCTGGCGCATGATCTGGGCCCCGCGGGCACCTGCCCCACCGTTTCCCGCTCCCTTGCTTTCTGCATGTGAAATTTGGGAATATCACTACAAAGTTTTCTTTTGGTAATGAAGAAAAACATCCAAATTCCTAAAAAGGCTTTTAGCCACGTGGTTTCCCCCGTTCTGGCTGTCAGGCTCACCTGTGCAGCTCGCAGAGCCGAGCAGCGGGTTCCCTTTCCTCCAAGGCGTGCCCCTCAGCCACTGTCTTTACCTCACCTGCGCTGAGCAGGGCCTTCAGTCAGCAAGGTGGAGAAGGCTCTTTATGGTCACAAGTCTCTTTTGCATGTCCCTGGATGTGGTTAGAGGACATATTCCCTTATACATACAGCATCTGAAAGGAAAGGTCATATTAGCATCCATGAGAAAAGGTGACATTTCTAAGTGTCACGGGCCACAGGAGGTCCCGGGTGGTAGAAGATGAGGATTGCTTGACCACAGTCTCCCATATGCTCGTGCTCCACTGGGCGACATTTATTTTGTGTACCTGTCTCGAGGCCTAAGTAGGTGTCAGAACCTTGCCTTGGAGTCATGCTGGGGACTGGGGAGATGCGCGTCATCTTCGGGTGGCTGTTCTCGGTGCCCTCGAGCTTCTCTCGGGCAGCGCATAGCTGCGCTGCCACCTCACGTTCCACATGCTGACCCTGCCTTGCCATGGTCCCTCTCGCAGCCCATGGAGTCCATGCATGAGAAGGGCATGTCGGACGACCCGCGCTACAACCAGATGAAAGGAATGGGGATGCGGTCAGGGGGCCATGCTGGGATGGGGCCCCCGCCCAGCCCCATGGACCAGCACTCCCAAGGTACAGAACTGCGTTCCTTCCTGCCTTGTGTTTGTCATACTCCAGAGTCCTCAGATCATTTTCCTCCCCTGGGTTCCCACAGGATGGATTCAGGGAGTACCTAGGATGATGTAGCCGGGTGGGTGGCCCGCCACAGAGAGCTGTCTGGCATGGCGTGGCTGGTGCTCTGTTCTGGCCACCTCGTCTCGGAGCAGCCCTGGAAGGGGAAATGCTGGTTGGGGGGCAGACCATGTTCAGCATGGGTGATAGAGGAGGGCTGTGCAGGGCAGCAGCCCCGTGCCACCCAGGAACTTACTGGAAATACAGATTCCTGGGGCCTGGGACTCTGCTTTAATGAGCCCAGCAGGTGCCTTTTCTGTACGAGGACAATTGAGAAGTGATATGGTGGGTGACTTTCCAAGGCCTTGCTGTCATCAGGGGTGGGAAGCTCAGGGGCTGCACTGGGAATGGAAGTGTTGGGGGTGGGCCTGGCGAGCCCGAGGATGTGGACCCCGCCTGTGGACAGGCAGGCGGAAGCCGGGAGAGAGCCGTGATTTCATGCACAGGTTCTCAGCATTAACCAGAAGCACCTTACTGAGACGTGGGCCAAACCAAATCCACCAGGTCGGCTGCTGGGCTGAGGTGCCTTCAGCATGTGCCCTCCAGGTGCCCCTGGTTGACTCAAGAGAAGGATGCCATTTGGCTGTGCCCTGTCTCAGAGTAGGAGCTGGTGTAGGGGGAAGAGGCTGTAAAAATCACAGACATATGCTGCCGAGTGACCAGTGGGCTGACCTTTCTCTGCAGGTTACCCCTCGCCCCTGGGTGGCTCTGAGCATGCCTCTAGTCCAGTTCCAGCCAGTGGCCCGTCTTCGGGGCCCCAGATGTCTTCCGGGCCAGGAGGTGCCCCGCTGGATGGTGCTGACCCCCAGGCCTTGGGGCAGCAGAACCGGGGCCCAACCCCATTTAACCAGAACCAGCTGCACCAGCTCAGAGCTCAGATCATGGCCTACAAGATGCTGGCCGGGGGCAGCCCCTCCCCGACCACCTGCAGATGGCGGTGCAGGGCAAGCGGCCGATGCCCGGGATGCAGCAGCAGATGCCAACGCTACCTCCACCCTCGGTGTCCGCAACAGGACCCGGCCCTGGCCCTGGCCCTGGCCCCGGCCCGGGTCCCGGCCCGGCACCTCCAAATTACAGCAGGCCTCATGGTAAGACTGGCTGCCCTGGCCCTCAGGTGTCTCAGAGCGAATGGCTGGGGCGTGGGTGGCGGGGTGGACAGACCGTGCTCTGTTGCCGACTGGGTTCCCCGGTTTGGGATTGCACGGGCCCATACTGCACTTCTGGGTGCTCGGGTGGTGGGGGCAGCTAAATGCTGCTTCCCCAGCTCCCCGCTTCCCCTGGGGCCGCTGGTTAATAGGTGTATCTGCTGTGTCCCCTGGAGCCAGGGCTGCCCACGGGGCTGGGCGCAGGCATAAACCTGGGACGCACTGTTTTCTCTTTTGTTTCTCCCTACATGTAGGTATGGGAGGGCCCAACATGCCTCCCCCAGGACCCTCGGGCGTGCCCCCCGGGATGCCAGGCCAGCCTCCTGGAGGGCCTCCCAAGCCCTGGCCTGAAGGTGAGCTCCCTCTTCTATGGTGGTGCACCCGTGCCCTTACTCCCCATCTCAAGCTTGGGTCCTTGAGATGAGCTTTGTCAGGGAGAAAGGGCCGAGGGTGGTCAGGCTGAACTGCAGCCTGTACTTTTCTTGTGGTGGTCCCCGGGTCTCCCCTGTAGCCAGTCAGTTCCCAAAGGCTGTCGTTCATCCCTCCTCTGACAGCTTGTGGCCTTCACCCAGTCCCTGAGCCCTGTATATGTAATTGCTCAGTAAGTGCTGCAGGCTCCCATCTGTTGGGCTCAAAGAGGCAGTGGGACTCATTACCCATCCTCTTGGAGCCTGAGGTTTAGCGATGGGCATTGAGGGGCAAATTGCTTCCACTGGATTTAGTTGGCACTAGGAGGAGATGACAGGAAATGCTGCCATAGAGCCACAGACAGAACAAAAAGGCCTTGGGAGCCTGGGGCTGGCCCCAGTGGAGGGTGTGAAGGACGAGGGTGAGGCTGAGATCTGGAGGAGGTTGGAGCCCAAGGCAGGTGTGAAGGACACCCCTGGGTGAAAGGTGGGAGATGGGCGGGGTCTGCCTGTCCCCAGTGCCTCAAGCAGCTCAGCAGCTTTCCATTTCCAGCCCGGGATGGGCCCCAGAGCTCAACATGACGCCCTGGCCCCTTGCCTTCTCCCAGGACCCATGGCGAATGCTGCTGCCCCCACGAGCACCCCTCAGAAGCTGATTCCCCCGCAGCCAACGGGCCGCCCTTCCCCCGCGCCCCCTGCCGTCCCACCCGCCGCCTCGCCCGTGATGCCACCGCAGACCCAGTCCCCCGGGCAGCCGGCCCAGCCCGCGCCCATGGTGCCACTGCACCAGAAGCAGAGCCGCATCACCCCCATCCAGAAGCCGCGGGGCCTCGACCCTGTGGAGATCCTGCAGGAGCGCGAGTACAGGTGAGGGCGGGGCCCAGTTGCCAAGGTCACTGCCCTGTGTCCCCCATGTCCCCCTGGGGAAGCCACTCAACTTTCTCCCCCACTCTAGCAAACAGTGCCCTGTGCCCACCACTGCCACTTGGCCTACACCTCCTTCCTCACCTCCCTGCTCCCACCCTGGCTGCGGTCTGTTTCCCACACAGCAGTTTGAGTTCTCTCTCTTTTTTTTTTTTTGAGACGGAGTTTCACTCTTGTTGCCCACGCTGGAGTGCAATGGCACAATCTCGGTTCACTGCAACCTGCATCTCCTGGCTTCAAGCGATTCTTCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGCATGCGCCACCACACCTGGCTAATTTTGTATTTATTTTAGTAGAGGCAGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAGCTCCTGACCTCAGATGCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCACCTGGCATGAATTCTCTTTTTATGATTGATATCAGATCTACTCCGTGGATTAAAN | pathogenic | 296,451 |
A genetic alteration at chromosome 19, position 10986523, in gene SMARCA4 (SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4)—benign or pathogenic? If pathogenic, which disease(s) is involved? | benign | TCTTGTTGGAGGTGTCCTGCCTTGGCTCAGCCCCCTACCCCAGGGCCCACGGCCATGAACAGAAGGTTCAGCTCGTCAGACCCCAGCCTGTGCTGGCGCATGATCTGGGCCCCGCGGGCACCTGCCCCACCGTTTCCCGCTCCCTTGCTTTCTGCATGTGAAATTTGGGAATATCACTACAAAGTTTTCTTTTGGTAATGAAGAAAAACATCCAAATTCCTAAAAAGGCTTTTAGCCACGTGGTTTCCCCCGTTCTGGCTGTCAGGCTCACCTGTGCAGCTCGCAGAGCCGAGCAGCGGGTTCCCTTTCCTCCAAGGCGTGCCCCTCAGCCACTGTCTTTACCTCACCTGCGCTGAGCAGGGCCTTCAGTCAGCAAGGTGGAGAAGGCTCTTTATGGTCACAAGTCTCTTTTGCATGTCCCTGGATGTGGTTAGAGGACATATTCCCTTATACATACAGCATCTGAAAGGAAAGGTCATATTAGCATCCATGAGAAAAGGTGACATTTCTAAGTGTCACGGGCCACAGGAGGTCCCGGGTGGTAGAAGATGAGGATTGCTTGACCACAGTCTCCCATATGCTCGTGCTCCACTGGGCGACATTTATTTTGTGTACCTGTCTCGAGGCCTAAGTAGGTGTCAGAACCTTGCCTTGGAGTCATGCTGGGGACTGGGGAGATGCGCGTCATCTTCGGGTGGCTGTTCTCGGTGCCCTCGAGCTTCTCTCGGGCAGCGCATAGCTGCGCTGCCACCTCACGTTCCACATGCTGACCCTGCCTTGCCATGGTCCCTCTCGCAGCCCATGGAGTCCATGCATGAGAAGGGCATGTCGGACGACCCGCGCTACAACCAGATGAAAGGAATGGGGATGCGGTCAGGGGGCCATGCTGGGATGGGGCCCCCGCCCAGCCCCATGGACCAGCACTCCCAAGGTACAGAACTGCGTTCCTTCCTGCCTTGTGTTTGTCATACTCCAGAGTCCTCAGATCATTTTCCTCCCCTGGGTTCCCACAGGATGGATTCAGGGAGTACCTAGGATGATGTAGCCGGGTGGGTGGCCCGCCACAGAGAGCTGTCTGGCATGGCGTGGCTGGTGCTCTGTTCTGGCCACCTCGTCTCGGAGCAGCCCTGGAAGGGGAAATGCTGGTTGGGGGGCAGACCATGTTCAGCATGGGTGATAGAGGAGGGCTGTGCAGGGCAGCAGCCCCGTGCCACCCAGGAACTTACTGGAAATACAGATTCCTGGGGCCTGGGACTCTGCTTTAATGAGCCCAGCAGGTGCCTTTTCTGTACGAGGACAATTGAGAAGTGATATGGTGGGTGACTTTCCAAGGCCTTGCTGTCATCAGGGGTGGGAAGCTCAGGGGCTGCACTGGGAATGGAAGTGTTGGGGGTGGGCCTGGCGAGCCCGAGGATGTGGACCCCGCCTGTGGACAGGCAGGCGGAAGCCGGGAGAGAGCCGTGATTTCATGCACAGGTTCTCAGCATTAACCAGAAGCACCTTACTGAGACGTGGGCCAAACCAAATCCACCAGGTCGGCTGCTGGGCTGAGGTGCCTTCAGCATGTGCCCTCCAGGTGCCCCTGGTTGACTCAAGAGAAGGATGCCATTTGGCTGTGCCCTGTCTCAGAGTAGGAGCTGGTGTAGGGGGAAGAGGCTGTAAAAATCACAGACATATGCTGCCGAGTGACCAGTGGGCTGACCTTTCTCTGCAGGTTACCCCTCGCCCCTGGGTGGCTCTGAGCATGCCTCTAGTCCAGTTCCAGCCAGTGGCCCGTCTTCGGGGCCCCAGATGTCTTCCGGGCCAGGAGGTGCCCCGCTGGATGGTGCTGACCCCCAGGCCTTGGGGCAGCAGAACCGGGGCCCAACCCCATTTAACCAGAACCAGCTGCACCAGCTCAGAGCTCAGATCATGGCCTACAAGATGCTGGCCAGGGGGCAGCCCCTCCCCGACCACCTGCAGATGGCGGTGCAGGGCAAGCGGCCGATGCCCGGGATGCAGCAGCAGATGCCAACGCTACCTCCACCCTCGGTGTCCGCAACAGGACCCGGCCCTGGCCCTGGCCCTGGCCCCGGCCCGGGTCCCGGCCCGGCACCTCCAAATTACAGCAGGCCTCATGGTAAGACTGGCTGCCCTGGCCCTCAGGTGTCTCAGAGCGAATGGCTGGGGCGTGGGTGGCGGGGTGGACAGACCGTGCTCTGTTGCCGACTGGGTTCCCCGGTTTGGGATTGCACGGGCCCATACTGCACTTCTGGGTGCTCGGGTGGTGGGGGCAGCTAAATGCTGCTTCCCCAGCTCCCCGCTTCCCCTGGGGCCGCTGGTTAATAGGTGTATCTGCTGTGTCCCCTGGAGCCAGGGCTGCCCACGGGGCTGGGCGCAGGCATAAACCTGGGACGCACTGTTTTCTCTTTTGTTTCTCCCTACATGTAGGTATGGGAGGGCCCAACATGCCTCCCCCAGGACCCTCGGGCGTGCCCCCCGGGATGCCAGGCCAGCCTCCTGGAGGGCCTCCCAAGCCCTGGCCTGAAGGTGAGCTCCCTCTTCTATGGTGGTGCACCCGTGCCCTTACTCCCCATCTCAAGCTTGGGTCCTTGAGATGAGCTTTGTCAGGGAGAAAGGGCCGAGGGTGGTCAGGCTGAACTGCAGCCTGTACTTTTCTTGTGGTGGTCCCCGGGTCTCCCCTGTAGCCAGTCAGTTCCCAAAGGCTGTCGTTCATCCCTCCTCTGACAGCTTGTGGCCTTCACCCAGTCCCTGAGCCCTGTATATGTAATTGCTCAGTAAGTGCTGCAGGCTCCCATCTGTTGGGCTCAAAGAGGCAGTGGGACTCATTACCCATCCTCTTGGAGCCTGAGGTTTAGCGATGGGCATTGAGGGGCAAATTGCTTCCACTGGATTTAGTTGGCACTAGGAGGAGATGACAGGAAATGCTGCCATAGAGCCACAGACAGAACAAAAAGGCCTTGGGAGCCTGGGGCTGGCCCCAGTGGAGGGTGTGAAGGACGAGGGTGAGGCTGAGATCTGGAGGAGGTTGGAGCCCAAGGCAGGTGTGAAGGACACCCCTGGGTGAAAGGTGGGAGATGGGCGGGGTCTGCCTGTCCCCAGTGCCTCAAGCAGCTCAGCAGCTTTCCATTTCCAGCCCGGGATGGGCCCCAGAGCTCAACATGACGCCCTGGCCCCTTGCCTTCTCCCAGGACCCATGGCGAATGCTGCTGCCCCCACGAGCACCCCTCAGAAGCTGATTCCCCCGCAGCCAACGGGCCGCCCTTCCCCCGCGCCCCCTGCCGTCCCACCCGCCGCCTCGCCCGTGATGCCACCGCAGACCCAGTCCCCCGGGCAGCCGGCCCAGCCCGCGCCCATGGTGCCACTGCACCAGAAGCAGAGCCGCATCACCCCCATCCAGAAGCCGCGGGGCCTCGACCCTGTGGAGATCCTGCAGGAGCGCGAGTACAGGTGAGGGCGGGGCCCAGTTGCCAAGGTCACTGCCCTGTGTCCCCCATGTCCCCCTGGGGAAGCCACTCAACTTTCTCCCCCACTCTAGCAAACAGTGCCCTGTGCCCACCACTGCCACTTGGCCTACACCTCCTTCCTCACCTCCCTGCTCCCACCCTGGCTGCGGTCTGTTTCCCACACAGCAGTTTGAGTTCTCTCTCTTTTTTTTTTTTTGAGACGGAGTTTCACTCTTGTTGCCCACGCTGGAGTGCAATGGCACAATCTCGGTTCACTGCAACCTGCATCTCCTGGCTTCAAGCGATTCTTCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGCATGCGCCACCACACCTGGCTAATTTTGTATTTATTTTAGTAGAGGCAGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAGCTCCTGACCTCAGATGCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCACCTGGCATGAATTCTCTTTTTATGATTGATATCAGATCTACTCCGTGGATTAAAACCTGCCTGTAGCTTCAATTATCTGCCCAATAAGCTTTGCCTTATGTCCACTCCTGCCCAGCATCCTTCCTCACCCATCCCAGTCTCTCTGTTCCTCTTTTCATTTATTTAACAAGT | TCTTGTTGGAGGTGTCCTGCCTTGGCTCAGCCCCCTACCCCAGGGCCCACGGCCATGAACAGAAGGTTCAGCTCGTCAGACCCCAGCCTGTGCTGGCGCATGATCTGGGCCCCGCGGGCACCTGCCCCACCGTTTCCCGCTCCCTTGCTTTCTGCATGTGAAATTTGGGAATATCACTACAAAGTTTTCTTTTGGTAATGAAGAAAAACATCCAAATTCCTAAAAAGGCTTTTAGCCACGTGGTTTCCCCCGTTCTGGCTGTCAGGCTCACCTGTGCAGCTCGCAGAGCCGAGCAGCGGGTTCCCTTTCCTCCAAGGCGTGCCCCTCAGCCACTGTCTTTACCTCACCTGCGCTGAGCAGGGCCTTCAGTCAGCAAGGTGGAGAAGGCTCTTTATGGTCACAAGTCTCTTTTGCATGTCCCTGGATGTGGTTAGAGGACATATTCCCTTATACATACAGCATCTGAAAGGAAAGGTCATATTAGCATCCATGAGAAAAGGTGACATTTCTAAGTGTCACGGGCCACAGGAGGTCCCGGGTGGTAGAAGATGAGGATTGCTTGACCACAGTCTCCCATATGCTCGTGCTCCACTGGGCGACATTTATTTTGTGTACCTGTCTCGAGGCCTAAGTAGGTGTCAGAACCTTGCCTTGGAGTCATGCTGGGGACTGGGGAGATGCGCGTCATCTTCGGGTGGCTGTTCTCGGTGCCCTCGAGCTTCTCTCGGGCAGCGCATAGCTGCGCTGCCACCTCACGTTCCACATGCTGACCCTGCCTTGCCATGGTCCCTCTCGCAGCCCATGGAGTCCATGCATGAGAAGGGCATGTCGGACGACCCGCGCTACAACCAGATGAAAGGAATGGGGATGCGGTCAGGGGGCCATGCTGGGATGGGGCCCCCGCCCAGCCCCATGGACCAGCACTCCCAAGGTACAGAACTGCGTTCCTTCCTGCCTTGTGTTTGTCATACTCCAGAGTCCTCAGATCATTTTCCTCCCCTGGGTTCCCACAGGATGGATTCAGGGAGTACCTAGGATGATGTAGCCGGGTGGGTGGCCCGCCACAGAGAGCTGTCTGGCATGGCGTGGCTGGTGCTCTGTTCTGGCCACCTCGTCTCGGAGCAGCCCTGGAAGGGGAAATGCTGGTTGGGGGGCAGACCATGTTCAGCATGGGTGATAGAGGAGGGCTGTGCAGGGCAGCAGCCCCGTGCCACCCAGGAACTTACTGGAAATACAGATTCCTGGGGCCTGGGACTCTGCTTTAATGAGCCCAGCAGGTGCCTTTTCTGTACGAGGACAATTGAGAAGTGATATGGTGGGTGACTTTCCAAGGCCTTGCTGTCATCAGGGGTGGGAAGCTCAGGGGCTGCACTGGGAATGGAAGTGTTGGGGGTGGGCCTGGCGAGCCCGAGGATGTGGACCCCGCCTGTGGACAGGCAGGCGGAAGCCGGGAGAGAGCCGTGATTTCATGCACAGGTTCTCAGCATTAACCAGAAGCACCTTACTGAGACGTGGGCCAAACCAAATCCACCAGGTCGGCTGCTGGGCTGAGGTGCCTTCAGCATGTGCCCTCCAGGTGCCCCTGGTTGACTCAAGAGAAGGATGCCATTTGGCTGTGCCCTGTCTCAGAGTAGGAGCTGGTGTAGGGGGAAGAGGCTGTAAAAATCACAGACATATGCTGCCGAGTGACCAGTGGGCTGACCTTTCTCTGCAGGTTACCCCTCGCCCCTGGGTGGCTCTGAGCATGCCTCTAGTCCAGTTCCAGCCAGTGGCCCGTCTTCGGGGCCCCAGATGTCTTCCGGGCCAGGAGGTGCCCCGCTGGATGGTGCTGACCCCCAGGCCTTGGGGCAGCAGAACCGGGGCCCAACCCCATTTAACCAGAACCAGCTGCACCAGCTCAGAGCTCAGATCATGGCCTACAAGATGCTGGCCAGGGGGCAGCCCCTCCCCGACCACCTGCAGATGGCGGTGCAGGGCAAGCGGCCGATGCCCGGGATGCAGCAGCAGATGCCAACGCTACCTCCACCCTCGGTGTCCGCAACAGGACCCGGCCCTGGCCCCGGCCCGGGTCCCGGCCCGGCACCTCCAAATTACAGCAGGCCTCATGGTAAGACTGGCTGCCCTGGCCCTCAGGTGTCTCAGAGCGAATGGCTGGGGCGTGGGTGGCGGGGTGGACAGACCGTGCTCTGTTGCCGACTGGGTTCCCCGGTTTGGGATTGCACGGGCCCATACTGCACTTCTGGGTGCTCGGGTGGTGGGGGCAGCTAAATGCTGCTTCCCCAGCTCCCCGCTTCCCCTGGGGCCGCTGGTTAATAGGTGTATCTGCTGTGTCCCCTGGAGCCAGGGCTGCCCACGGGGCTGGGCGCAGGCATAAACCTGGGACGCACTGTTTTCTCTTTTGTTTCTCCCTACATGTAGGTATGGGAGGGCCCAACATGCCTCCCCCAGGACCCTCGGGCGTGCCCCCCGGGATGCCAGGCCAGCCTCCTGGAGGGCCTCCCAAGCCCTGGCCTGAAGGTGAGCTCCCTCTTCTATGGTGGTGCACCCGTGCCCTTACTCCCCATCTCAAGCTTGGGTCCTTGAGATGAGCTTTGTCAGGGAGAAAGGGCCGAGGGTGGTCAGGCTGAACTGCAGCCTGTACTTTTCTTGTGGTGGTCCCCGGGTCTCCCCTGTAGCCAGTCAGTTCCCAAAGGCTGTCGTTCATCCCTCCTCTGACAGCTTGTGGCCTTCACCCAGTCCCTGAGCCCTGTATATGTAATTGCTCAGTAAGTGCTGCAGGCTCCCATCTGTTGGGCTCAAAGAGGCAGTGGGACTCATTACCCATCCTCTTGGAGCCTGAGGTTTAGCGATGGGCATTGAGGGGCAAATTGCTTCCACTGGATTTAGTTGGCACTAGGAGGAGATGACAGGAAATGCTGCCATAGAGCCACAGACAGAACAAAAAGGCCTTGGGAGCCTGGGGCTGGCCCCAGTGGAGGGTGTGAAGGACGAGGGTGAGGCTGAGATCTGGAGGAGGTTGGAGCCCAAGGCAGGTGTGAAGGACACCCCTGGGTGAAAGGTGGGAGATGGGCGGGGTCTGCCTGTCCCCAGTGCCTCAAGCAGCTCAGCAGCTTTCCATTTCCAGCCCGGGATGGGCCCCAGAGCTCAACATGACGCCCTGGCCCCTTGCCTTCTCCCAGGACCCATGGCGAATGCTGCTGCCCCCACGAGCACCCCTCAGAAGCTGATTCCCCCGCAGCCAACGGGCCGCCCTTCCCCCGCGCCCCCTGCCGTCCCACCCGCCGCCTCGCCCGTGATGCCACCGCAGACCCAGTCCCCCGGGCAGCCGGCCCAGCCCGCGCCCATGGTGCCACTGCACCAGAAGCAGAGCCGCATCACCCCCATCCAGAAGCCGCGGGGCCTCGACCCTGTGGAGATCCTGCAGGAGCGCGAGTACAGGTGAGGGCGGGGCCCAGTTGCCAAGGTCACTGCCCTGTGTCCCCCATGTCCCCCTGGGGAAGCCACTCAACTTTCTCCCCCACTCTAGCAAACAGTGCCCTGTGCCCACCACTGCCACTTGGCCTACACCTCCTTCCTCACCTCCCTGCTCCCACCCTGGCTGCGGTCTGTTTCCCACACAGCAGTTTGAGTTCTCTCTCTTTTTTTTTTTTTGAGACGGAGTTTCACTCTTGTTGCCCACGCTGGAGTGCAATGGCACAATCTCGGTTCACTGCAACCTGCATCTCCTGGCTTCAAGCGATTCTTCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGCATGCGCCACCACACCTGGCTAATTTTGTATTTATTTTAGTAGAGGCAGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAGCTCCTGACCTCAGATGCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCACCTGGCATGAATTCTCTTTTTATGATTGATATCAGATCTACTCCGTGGATTAAAACCTGCCTGTAGCTTCAATTATCTGCCCAATAAGCTTTGCCTTATGTCCACTCCTGCCCAGCATCCTTCCTCACCCATCCCAGTCTCTCTGTTCCTCTTTTCATTTATTTAACAAGTNNNNNNNNNNNN | benign | 296,473 |
Does the variant impacting SMARCA4 (SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4) on chromosome 19, position 10986544, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | benign | TTGGCTCAGCCCCCTACCCCAGGGCCCACGGCCATGAACAGAAGGTTCAGCTCGTCAGACCCCAGCCTGTGCTGGCGCATGATCTGGGCCCCGCGGGCACCTGCCCCACCGTTTCCCGCTCCCTTGCTTTCTGCATGTGAAATTTGGGAATATCACTACAAAGTTTTCTTTTGGTAATGAAGAAAAACATCCAAATTCCTAAAAAGGCTTTTAGCCACGTGGTTTCCCCCGTTCTGGCTGTCAGGCTCACCTGTGCAGCTCGCAGAGCCGAGCAGCGGGTTCCCTTTCCTCCAAGGCGTGCCCCTCAGCCACTGTCTTTACCTCACCTGCGCTGAGCAGGGCCTTCAGTCAGCAAGGTGGAGAAGGCTCTTTATGGTCACAAGTCTCTTTTGCATGTCCCTGGATGTGGTTAGAGGACATATTCCCTTATACATACAGCATCTGAAAGGAAAGGTCATATTAGCATCCATGAGAAAAGGTGACATTTCTAAGTGTCACGGGCCACAGGAGGTCCCGGGTGGTAGAAGATGAGGATTGCTTGACCACAGTCTCCCATATGCTCGTGCTCCACTGGGCGACATTTATTTTGTGTACCTGTCTCGAGGCCTAAGTAGGTGTCAGAACCTTGCCTTGGAGTCATGCTGGGGACTGGGGAGATGCGCGTCATCTTCGGGTGGCTGTTCTCGGTGCCCTCGAGCTTCTCTCGGGCAGCGCATAGCTGCGCTGCCACCTCACGTTCCACATGCTGACCCTGCCTTGCCATGGTCCCTCTCGCAGCCCATGGAGTCCATGCATGAGAAGGGCATGTCGGACGACCCGCGCTACAACCAGATGAAAGGAATGGGGATGCGGTCAGGGGGCCATGCTGGGATGGGGCCCCCGCCCAGCCCCATGGACCAGCACTCCCAAGGTACAGAACTGCGTTCCTTCCTGCCTTGTGTTTGTCATACTCCAGAGTCCTCAGATCATTTTCCTCCCCTGGGTTCCCACAGGATGGATTCAGGGAGTACCTAGGATGATGTAGCCGGGTGGGTGGCCCGCCACAGAGAGCTGTCTGGCATGGCGTGGCTGGTGCTCTGTTCTGGCCACCTCGTCTCGGAGCAGCCCTGGAAGGGGAAATGCTGGTTGGGGGGCAGACCATGTTCAGCATGGGTGATAGAGGAGGGCTGTGCAGGGCAGCAGCCCCGTGCCACCCAGGAACTTACTGGAAATACAGATTCCTGGGGCCTGGGACTCTGCTTTAATGAGCCCAGCAGGTGCCTTTTCTGTACGAGGACAATTGAGAAGTGATATGGTGGGTGACTTTCCAAGGCCTTGCTGTCATCAGGGGTGGGAAGCTCAGGGGCTGCACTGGGAATGGAAGTGTTGGGGGTGGGCCTGGCGAGCCCGAGGATGTGGACCCCGCCTGTGGACAGGCAGGCGGAAGCCGGGAGAGAGCCGTGATTTCATGCACAGGTTCTCAGCATTAACCAGAAGCACCTTACTGAGACGTGGGCCAAACCAAATCCACCAGGTCGGCTGCTGGGCTGAGGTGCCTTCAGCATGTGCCCTCCAGGTGCCCCTGGTTGACTCAAGAGAAGGATGCCATTTGGCTGTGCCCTGTCTCAGAGTAGGAGCTGGTGTAGGGGGAAGAGGCTGTAAAAATCACAGACATATGCTGCCGAGTGACCAGTGGGCTGACCTTTCTCTGCAGGTTACCCCTCGCCCCTGGGTGGCTCTGAGCATGCCTCTAGTCCAGTTCCAGCCAGTGGCCCGTCTTCGGGGCCCCAGATGTCTTCCGGGCCAGGAGGTGCCCCGCTGGATGGTGCTGACCCCCAGGCCTTGGGGCAGCAGAACCGGGGCCCAACCCCATTTAACCAGAACCAGCTGCACCAGCTCAGAGCTCAGATCATGGCCTACAAGATGCTGGCCAGGGGGCAGCCCCTCCCCGACCACCTGCAGATGGCGGTGCAGGGCAAGCGGCCGATGCCCGGGATGCAGCAGCAGATGCCAACGCTACCTCCACCCTCGGTGTCCGCAACAGGACCCGGCCCTGGCCCTGGCCCTGGCCCCGGCCCGGGTCCCGGCCCGGCACCTCCAAATTACAGCAGGCCTCATGGTAAGACTGGCTGCCCTGGCCCTCAGGTGTCTCAGAGCGAATGGCTGGGGCGTGGGTGGCGGGGTGGACAGACCGTGCTCTGTTGCCGACTGGGTTCCCCGGTTTGGGATTGCACGGGCCCATACTGCACTTCTGGGTGCTCGGGTGGTGGGGGCAGCTAAATGCTGCTTCCCCAGCTCCCCGCTTCCCCTGGGGCCGCTGGTTAATAGGTGTATCTGCTGTGTCCCCTGGAGCCAGGGCTGCCCACGGGGCTGGGCGCAGGCATAAACCTGGGACGCACTGTTTTCTCTTTTGTTTCTCCCTACATGTAGGTATGGGAGGGCCCAACATGCCTCCCCCAGGACCCTCGGGCGTGCCCCCCGGGATGCCAGGCCAGCCTCCTGGAGGGCCTCCCAAGCCCTGGCCTGAAGGTGAGCTCCCTCTTCTATGGTGGTGCACCCGTGCCCTTACTCCCCATCTCAAGCTTGGGTCCTTGAGATGAGCTTTGTCAGGGAGAAAGGGCCGAGGGTGGTCAGGCTGAACTGCAGCCTGTACTTTTCTTGTGGTGGTCCCCGGGTCTCCCCTGTAGCCAGTCAGTTCCCAAAGGCTGTCGTTCATCCCTCCTCTGACAGCTTGTGGCCTTCACCCAGTCCCTGAGCCCTGTATATGTAATTGCTCAGTAAGTGCTGCAGGCTCCCATCTGTTGGGCTCAAAGAGGCAGTGGGACTCATTACCCATCCTCTTGGAGCCTGAGGTTTAGCGATGGGCATTGAGGGGCAAATTGCTTCCACTGGATTTAGTTGGCACTAGGAGGAGATGACAGGAAATGCTGCCATAGAGCCACAGACAGAACAAAAAGGCCTTGGGAGCCTGGGGCTGGCCCCAGTGGAGGGTGTGAAGGACGAGGGTGAGGCTGAGATCTGGAGGAGGTTGGAGCCCAAGGCAGGTGTGAAGGACACCCCTGGGTGAAAGGTGGGAGATGGGCGGGGTCTGCCTGTCCCCAGTGCCTCAAGCAGCTCAGCAGCTTTCCATTTCCAGCCCGGGATGGGCCCCAGAGCTCAACATGACGCCCTGGCCCCTTGCCTTCTCCCAGGACCCATGGCGAATGCTGCTGCCCCCACGAGCACCCCTCAGAAGCTGATTCCCCCGCAGCCAACGGGCCGCCCTTCCCCCGCGCCCCCTGCCGTCCCACCCGCCGCCTCGCCCGTGATGCCACCGCAGACCCAGTCCCCCGGGCAGCCGGCCCAGCCCGCGCCCATGGTGCCACTGCACCAGAAGCAGAGCCGCATCACCCCCATCCAGAAGCCGCGGGGCCTCGACCCTGTGGAGATCCTGCAGGAGCGCGAGTACAGGTGAGGGCGGGGCCCAGTTGCCAAGGTCACTGCCCTGTGTCCCCCATGTCCCCCTGGGGAAGCCACTCAACTTTCTCCCCCACTCTAGCAAACAGTGCCCTGTGCCCACCACTGCCACTTGGCCTACACCTCCTTCCTCACCTCCCTGCTCCCACCCTGGCTGCGGTCTGTTTCCCACACAGCAGTTTGAGTTCTCTCTCTTTTTTTTTTTTTGAGACGGAGTTTCACTCTTGTTGCCCACGCTGGAGTGCAATGGCACAATCTCGGTTCACTGCAACCTGCATCTCCTGGCTTCAAGCGATTCTTCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGCATGCGCCACCACACCTGGCTAATTTTGTATTTATTTTAGTAGAGGCAGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAGCTCCTGACCTCAGATGCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCACCTGGCATGAATTCTCTTTTTATGATTGATATCAGATCTACTCCGTGGATTAAAACCTGCCTGTAGCTTCAATTATCTGCCCAATAAGCTTTGCCTTATGTCCACTCCTGCCCAGCATCCTTCCTCACCCATCCCAGTCTCTCTGTTCCTCTTTTCATTTATTTAACAAGTTAGACTTGTTCCTGCCCCAGG | TTGGCTCAGCCCCCTACCCCAGGGCCCACGGCCATGAACAGAAGGTTCAGCTCGTCAGACCCCAGCCTGTGCTGGCGCATGATCTGGGCCCCGCGGGCACCTGCCCCACCGTTTCCCGCTCCCTTGCTTTCTGCATGTGAAATTTGGGAATATCACTACAAAGTTTTCTTTTGGTAATGAAGAAAAACATCCAAATTCCTAAAAAGGCTTTTAGCCACGTGGTTTCCCCCGTTCTGGCTGTCAGGCTCACCTGTGCAGCTCGCAGAGCCGAGCAGCGGGTTCCCTTTCCTCCAAGGCGTGCCCCTCAGCCACTGTCTTTACCTCACCTGCGCTGAGCAGGGCCTTCAGTCAGCAAGGTGGAGAAGGCTCTTTATGGTCACAAGTCTCTTTTGCATGTCCCTGGATGTGGTTAGAGGACATATTCCCTTATACATACAGCATCTGAAAGGAAAGGTCATATTAGCATCCATGAGAAAAGGTGACATTTCTAAGTGTCACGGGCCACAGGAGGTCCCGGGTGGTAGAAGATGAGGATTGCTTGACCACAGTCTCCCATATGCTCGTGCTCCACTGGGCGACATTTATTTTGTGTACCTGTCTCGAGGCCTAAGTAGGTGTCAGAACCTTGCCTTGGAGTCATGCTGGGGACTGGGGAGATGCGCGTCATCTTCGGGTGGCTGTTCTCGGTGCCCTCGAGCTTCTCTCGGGCAGCGCATAGCTGCGCTGCCACCTCACGTTCCACATGCTGACCCTGCCTTGCCATGGTCCCTCTCGCAGCCCATGGAGTCCATGCATGAGAAGGGCATGTCGGACGACCCGCGCTACAACCAGATGAAAGGAATGGGGATGCGGTCAGGGGGCCATGCTGGGATGGGGCCCCCGCCCAGCCCCATGGACCAGCACTCCCAAGGTACAGAACTGCGTTCCTTCCTGCCTTGTGTTTGTCATACTCCAGAGTCCTCAGATCATTTTCCTCCCCTGGGTTCCCACAGGATGGATTCAGGGAGTACCTAGGATGATGTAGCCGGGTGGGTGGCCCGCCACAGAGAGCTGTCTGGCATGGCGTGGCTGGTGCTCTGTTCTGGCCACCTCGTCTCGGAGCAGCCCTGGAAGGGGAAATGCTGGTTGGGGGGCAGACCATGTTCAGCATGGGTGATAGAGGAGGGCTGTGCAGGGCAGCAGCCCCGTGCCACCCAGGAACTTACTGGAAATACAGATTCCTGGGGCCTGGGACTCTGCTTTAATGAGCCCAGCAGGTGCCTTTTCTGTACGAGGACAATTGAGAAGTGATATGGTGGGTGACTTTCCAAGGCCTTGCTGTCATCAGGGGTGGGAAGCTCAGGGGCTGCACTGGGAATGGAAGTGTTGGGGGTGGGCCTGGCGAGCCCGAGGATGTGGACCCCGCCTGTGGACAGGCAGGCGGAAGCCGGGAGAGAGCCGTGATTTCATGCACAGGTTCTCAGCATTAACCAGAAGCACCTTACTGAGACGTGGGCCAAACCAAATCCACCAGGTCGGCTGCTGGGCTGAGGTGCCTTCAGCATGTGCCCTCCAGGTGCCCCTGGTTGACTCAAGAGAAGGATGCCATTTGGCTGTGCCCTGTCTCAGAGTAGGAGCTGGTGTAGGGGGAAGAGGCTGTAAAAATCACAGACATATGCTGCCGAGTGACCAGTGGGCTGACCTTTCTCTGCAGGTTACCCCTCGCCCCTGGGTGGCTCTGAGCATGCCTCTAGTCCAGTTCCAGCCAGTGGCCCGTCTTCGGGGCCCCAGATGTCTTCCGGGCCAGGAGGTGCCCCGCTGGATGGTGCTGACCCCCAGGCCTTGGGGCAGCAGAACCGGGGCCCAACCCCATTTAACCAGAACCAGCTGCACCAGCTCAGAGCTCAGATCATGGCCTACAAGATGCTGGCCAGGGGGCAGCCCCTCCCCGACCACCTGCAGATGGCGGTGCAGGGCAAGCGGCCGATGCCCGGGATGCAGCAGCAGATGCCAACGCTACCTCCACCCTCGGTGTCCGCAACAGGACCCGGCCCTGGCCCTGGCCCTGGCCCCGGCCCGGCACCTCCAAATTACAGCAGGCCTCATGGTAAGACTGGCTGCCCTGGCCCTCAGGTGTCTCAGAGCGAATGGCTGGGGCGTGGGTGGCGGGGTGGACAGACCGTGCTCTGTTGCCGACTGGGTTCCCCGGTTTGGGATTGCACGGGCCCATACTGCACTTCTGGGTGCTCGGGTGGTGGGGGCAGCTAAATGCTGCTTCCCCAGCTCCCCGCTTCCCCTGGGGCCGCTGGTTAATAGGTGTATCTGCTGTGTCCCCTGGAGCCAGGGCTGCCCACGGGGCTGGGCGCAGGCATAAACCTGGGACGCACTGTTTTCTCTTTTGTTTCTCCCTACATGTAGGTATGGGAGGGCCCAACATGCCTCCCCCAGGACCCTCGGGCGTGCCCCCCGGGATGCCAGGCCAGCCTCCTGGAGGGCCTCCCAAGCCCTGGCCTGAAGGTGAGCTCCCTCTTCTATGGTGGTGCACCCGTGCCCTTACTCCCCATCTCAAGCTTGGGTCCTTGAGATGAGCTTTGTCAGGGAGAAAGGGCCGAGGGTGGTCAGGCTGAACTGCAGCCTGTACTTTTCTTGTGGTGGTCCCCGGGTCTCCCCTGTAGCCAGTCAGTTCCCAAAGGCTGTCGTTCATCCCTCCTCTGACAGCTTGTGGCCTTCACCCAGTCCCTGAGCCCTGTATATGTAATTGCTCAGTAAGTGCTGCAGGCTCCCATCTGTTGGGCTCAAAGAGGCAGTGGGACTCATTACCCATCCTCTTGGAGCCTGAGGTTTAGCGATGGGCATTGAGGGGCAAATTGCTTCCACTGGATTTAGTTGGCACTAGGAGGAGATGACAGGAAATGCTGCCATAGAGCCACAGACAGAACAAAAAGGCCTTGGGAGCCTGGGGCTGGCCCCAGTGGAGGGTGTGAAGGACGAGGGTGAGGCTGAGATCTGGAGGAGGTTGGAGCCCAAGGCAGGTGTGAAGGACACCCCTGGGTGAAAGGTGGGAGATGGGCGGGGTCTGCCTGTCCCCAGTGCCTCAAGCAGCTCAGCAGCTTTCCATTTCCAGCCCGGGATGGGCCCCAGAGCTCAACATGACGCCCTGGCCCCTTGCCTTCTCCCAGGACCCATGGCGAATGCTGCTGCCCCCACGAGCACCCCTCAGAAGCTGATTCCCCCGCAGCCAACGGGCCGCCCTTCCCCCGCGCCCCCTGCCGTCCCACCCGCCGCCTCGCCCGTGATGCCACCGCAGACCCAGTCCCCCGGGCAGCCGGCCCAGCCCGCGCCCATGGTGCCACTGCACCAGAAGCAGAGCCGCATCACCCCCATCCAGAAGCCGCGGGGCCTCGACCCTGTGGAGATCCTGCAGGAGCGCGAGTACAGGTGAGGGCGGGGCCCAGTTGCCAAGGTCACTGCCCTGTGTCCCCCATGTCCCCCTGGGGAAGCCACTCAACTTTCTCCCCCACTCTAGCAAACAGTGCCCTGTGCCCACCACTGCCACTTGGCCTACACCTCCTTCCTCACCTCCCTGCTCCCACCCTGGCTGCGGTCTGTTTCCCACACAGCAGTTTGAGTTCTCTCTCTTTTTTTTTTTTTGAGACGGAGTTTCACTCTTGTTGCCCACGCTGGAGTGCAATGGCACAATCTCGGTTCACTGCAACCTGCATCTCCTGGCTTCAAGCGATTCTTCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGCATGCGCCACCACACCTGGCTAATTTTGTATTTATTTTAGTAGAGGCAGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAGCTCCTGACCTCAGATGCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCACCTGGCATGAATTCTCTTTTTATGATTGATATCAGATCTACTCCGTGGATTAAAACCTGCCTGTAGCTTCAATTATCTGCCCAATAAGCTTTGCCTTATGTCCACTCCTGCCCAGCATCCTTCCTCACCCATCCCAGTCTCTCTGTTCCTCTTTTCATTTATTTAACAAGTTAGACTTGTTCCTGCCCCAGGNNNNNNNNNNNN | benign | 296,481 |
Subsets and Splits
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