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 |
|---|---|---|---|---|---|
Does the variant impacting SOBP (sine oculis binding protein homolog) on chromosome 6, position 107635075, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | benign | ACACTCTTTCCAACTGCATTATCAAACATAGTCAACAGTGTAAAGTGACTTCGCATGAGGAGAATTGTAAGGGGTAATATTTCAAGCCCATTGAACTTTCTGGAGAACCTTTCCCTCCAAAACTCTTTAGGTTTGCATTTACAATGAGCCTCTCTGACAAGTGAAAATGTGTGGGCAGGTACATTGGACAGGTATATATATTCCCTTTTCTCAGAACCATCTTTAAGTCATGCTTAAAGGGGACAACACAATTTAAGAAAAAAGAATAGGAGGTTGTGATAATTGGTATTCTGAAGAGCTCATATTTATAAAGCCAACCC... | ACACTCTTTCCAACTGCATTATCAAACATAGTCAACAGTGTAAAGTGACTTCGCATGAGGAGAATTGTAAGGGGTAATATTTCAAGCCCATTGAACTTTCTGGAGAACCTTTCCCTCCAAAACTCTTTAGGTTTGCATTTACAATGAGCCTCTCTGACAAGTGAAAATGTGTGGGCAGGTACATTGGACAGGTATATATATTCCCTTTTCTCAGAACCATCTTTAAGTCATGCTTAAAGGGGACAACACAATTTAAGAAAAAAGAATAGGAGGTTGTGATAATTGGTATTCTGAAGAGCTCATATTTATAAAGCCAACCC... | benign | 111,333 |
The mutation impacting SOBP (sine oculis binding protein homolog) on chromosome 6 at position 107635075: benign or pathogenic? Name the associated disease(s) if pathogenic. | benign | ACACTCTTTCCAACTGCATTATCAAACATAGTCAACAGTGTAAAGTGACTTCGCATGAGGAGAATTGTAAGGGGTAATATTTCAAGCCCATTGAACTTTCTGGAGAACCTTTCCCTCCAAAACTCTTTAGGTTTGCATTTACAATGAGCCTCTCTGACAAGTGAAAATGTGTGGGCAGGTACATTGGACAGGTATATATATTCCCTTTTCTCAGAACCATCTTTAAGTCATGCTTAAAGGGGACAACACAATTTAAGAAAAAAGAATAGGAGGTTGTGATAATTGGTATTCTGAAGAGCTCATATTTATAAAGCCAACCC... | ACACTCTTTCCAACTGCATTATCAAACATAGTCAACAGTGTAAAGTGACTTCGCATGAGGAGAATTGTAAGGGGTAATATTTCAAGCCCATTGAACTTTCTGGAGAACCTTTCCCTCCAAAACTCTTTAGGTTTGCATTTACAATGAGCCTCTCTGACAAGTGAAAATGTGTGGGCAGGTACATTGGACAGGTATATATATTCCCTTTTCTCAGAACCATCTTTAAGTCATGCTTAAAGGGGACAACACAATTTAAGAAAAAAGAATAGGAGGTTGTGATAATTGGTATTCTGAAGAGCTCATATTTATAAAGCCAACCC... | benign | 111,334 |
Does the variant on chromosome 6 at location 107876590 affecting gene SEC63 (SEC63 homolog, protein translocation regulator) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Autosomal_dominant_polycystic_liver_disease', 'Polycystic_liver_disease_2', 'SEC63-related_disorder'] | GCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACACAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAGAACAAGAACAAGAAAGTATTCAACACTAAAGAGGCATGACAACCAAATACAATGTAAAAATCTCTTTTTTTCTTTCTTTCGAGACATGTCACTCTGTTGCCCAGGCTGAAGTACAGGGGCATGATCATGGCTCATTGCAGCTTCAACCTCATGGGCTCAAGTGATCCTCCTGCCTCAGCCTCCTGAGTTAGGCTGGGACTACAGGCACAAGTCACCACACCCAGCTACAATGTGTGATCCTTGAT... | GCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACACAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAGAACAAGAACAAGAAAGTATTCAACACTAAAGAGGCATGACAACCAAATACAATGTAAAAATCTCTTTTTTTCTTTCTTTCGAGACATGTCACTCTGTTGCCCAGGCTGAAGTACAGGGGCATGATCATGGCTCATTGCAGCTTCAACCTCATGGGCTCAAGTGATCCTCCTGCCTCAGCCTCCTGAGTTAGGCTGGGACTACAGGCACAAGTCACCACACCCAGCTACAATGTGTGATCCTTGAT... | pathogenic | 111,342 |
Does the genetic variant at chromosome 6, position 107876670, impacting gene SEC63 (SEC63 homolog, protein translocation regulator), appear benign or pathogenic? If pathogenic, name the associated disease(s). | benign | GAACAAGAAAGTATTCAACACTAAAGAGGCATGACAACCAAATACAATGTAAAAATCTCTTTTTTTCTTTCTTTCGAGACATGTCACTCTGTTGCCCAGGCTGAAGTACAGGGGCATGATCATGGCTCATTGCAGCTTCAACCTCATGGGCTCAAGTGATCCTCCTGCCTCAGCCTCCTGAGTTAGGCTGGGACTACAGGCACAAGTCACCACACCCAGCTACAATGTGTGATCCTTGATTAGATCCTGAGTTTAAAAATAAAACCAAAAACTGTAACAGACATTAGTGGAATCGTTGAGGAAATCTGAATACAGACTGC... | GAACAAGAAAGTATTCAACACTAAAGAGGCATGACAACCAAATACAATGTAAAAATCTCTTTTTTTCTTTCTTTCGAGACATGTCACTCTGTTGCCCAGGCTGAAGTACAGGGGCATGATCATGGCTCATTGCAGCTTCAACCTCATGGGCTCAAGTGATCCTCCTGCCTCAGCCTCCTGAGTTAGGCTGGGACTACAGGCACAAGTCACCACACCCAGCTACAATGTGTGATCCTTGATTAGATCCTGAGTTTAAAAATAAAACCAAAAACTGTAACAGACATTAGTGGAATCGTTGAGGAAATCTGAATACAGACTGC... | benign | 111,343 |
Clinical significance of chromosome 6, position 107876670, gene SEC63 (SEC63 homolog, protein translocation regulator): benign or pathogenic? Name the disease(s) if pathogenic. | benign | GAACAAGAAAGTATTCAACACTAAAGAGGCATGACAACCAAATACAATGTAAAAATCTCTTTTTTTCTTTCTTTCGAGACATGTCACTCTGTTGCCCAGGCTGAAGTACAGGGGCATGATCATGGCTCATTGCAGCTTCAACCTCATGGGCTCAAGTGATCCTCCTGCCTCAGCCTCCTGAGTTAGGCTGGGACTACAGGCACAAGTCACCACACCCAGCTACAATGTGTGATCCTTGATTAGATCCTGAGTTTAAAAATAAAACCAAAAACTGTAACAGACATTAGTGGAATCGTTGAGGAAATCTGAATACAGACTGC... | GAACAAGAAAGTATTCAACACTAAAGAGGCATGACAACCAAATACAATGTAAAAATCTCTTTTTTTCTTTCTTTCGAGACATGTCACTCTGTTGCCCAGGCTGAAGTACAGGGGCATGATCATGGCTCATTGCAGCTTCAACCTCATGGGCTCAAGTGATCCTCCTGCCTCAGCCTCCTGAGTTAGGCTGGGACTACAGGCACAAGTCACCACACCCAGCTACAATGTGTGATCCTTGATTAGATCCTGAGTTTAAAAATAAAACCAAAAACTGTAACAGACATTAGTGGAATCGTTGAGGAAATCTGAATACAGACTGC... | benign | 111,344 |
Mutation at chromosome 6, position 107893550, within SEC63 (SEC63 homolog, protein translocation regulator): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Polycystic_liver_disease_2'] | GAACATGCTCCTTTAGCTTGGAGGAGTTTGTTATTACCCACCTTCTGAAACCTGCTTCTGTCAGTTCGTCACATTCATTCTCCATCCAGTTTTGTTCCCTTGCTGGTGAGGAGCTGTGATCCTTTGGAGAAGAGGCATTCTGGTTTTTGGAATTTTCAGCCTTTTTGGGCTGATTTCTCCCCATCTGCGTGGATTTATCTACCTTTGGTCTTTGAAGTCAGTGACCTTCGGATGGGGTCTCTGAGTGGACGTCCTTTTTGTTGGTGTTGATACTATTCCTTTCTATTTGTTAGTTTTCCTTCTAACAGGCCCCTCTGCTG... | GAACATGCTCCTTTAGCTTGGAGGAGTTTGTTATTACCCACCTTCTGAAACCTGCTTCTGTCAGTTCGTCACATTCATTCTCCATCCAGTTTTGTTCCCTTGCTGGTGAGGAGCTGTGATCCTTTGGAGAAGAGGCATTCTGGTTTTTGGAATTTTCAGCCTTTTTGGGCTGATTTCTCCCCATCTGCGTGGATTTATCTACCTTTGGTCTTTGAAGTCAGTGACCTTCGGATGGGGTCTCTGAGTGGACGTCCTTTTTGTTGGTGTTGATACTATTCCTTTCTATTTGTTAGTTTTCCTTCTAACAGGCCCCTCTGCTG... | pathogenic | 111,348 |
Evaluate the clinical significance of the mutation at chromosome 6, position 107893569 in gene SEC63 (SEC63 homolog, protein translocation regulator): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Polycystic_liver_disease_2'] | GGAGGAGTTTGTTATTACCCACCTTCTGAAACCTGCTTCTGTCAGTTCGTCACATTCATTCTCCATCCAGTTTTGTTCCCTTGCTGGTGAGGAGCTGTGATCCTTTGGAGAAGAGGCATTCTGGTTTTTGGAATTTTCAGCCTTTTTGGGCTGATTTCTCCCCATCTGCGTGGATTTATCTACCTTTGGTCTTTGAAGTCAGTGACCTTCGGATGGGGTCTCTGAGTGGACGTCCTTTTTGTTGGTGTTGATACTATTCCTTTCTATTTGTTAGTTTTCCTTCTAACAGGCCCCTCTGCTGCAGGTCTGCTGGAGTTTGC... | GGAGGAGTTTGTTATTACCCACCTTCTGAAACCTGCTTCTGTCAGTTCGTCACATTCATTCTCCATCCAGTTTTGTTCCCTTGCTGGTGAGGAGCTGTGATCCTTTGGAGAAGAGGCATTCTGGTTTTTGGAATTTTCAGCCTTTTTGGGCTGATTTCTCCCCATCTGCGTGGATTTATCTACCTTTGGTCTTTGAAGTCAGTGACCTTCGGATGGGGTCTCTGAGTGGACGTCCTTTTTGTTGGTGTTGATACTATTCCTTTCTATTTGTTAGTTTTCCTTCTAACAGGCCCCTCTGCTGCAGGTCTGCTGGAGTTTGC... | pathogenic | 111,349 |
Variant chromosome 6, position 107901523, gene SEC63 (SEC63 homolog, protein translocation regulator): benign or pathogenic? Disease(s)? | benign | GGAGGCTGAGGTGGGTGAATCACCTGAGGCTGGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACTCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGTGGCACACGCCTGTAATCCCAGCTACTTGGGAGGGCTGAGGCAGGAGAATCACTTGAACCTAGAGTTGGAGGTTGCAGTAAGCCCAGATAGTGCCACTGCACTTCAGCCTGGGCAACAGAGCAAGACTGTCTCAAAAAAAAAAAGAAAAGAAAAGAAAAGAAAAGGGTATACTTTTAACAGTTCTTAATATCACAAAGTATCTCTAAGTCC... | GGAGGCTGAGGTGGGTGAATCACCTGAGGCTGGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACTCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGTGGCACACGCCTGTAATCCCAGCTACTTGGGAGGGCTGAGGCAGGAGAATCACTTGAACCTAGAGTTGGAGGTTGCAGTAAGCCCAGATAGTGCCACTGCACTTCAGCCTGGGCAACAGAGCAAGACTGTCTCAAAAAAAAAAAGAAAAGAAAAGAAAAGAAAAGGGTATACTTTTAACAGTTCTTAATATCACAAAGTATCTCTAAGTCC... | benign | 111,354 |
A genetic alteration at chromosome 6, position 107902861, in gene SEC63 (SEC63 homolog, protein translocation regulator)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Polycystic_liver_disease_2'] | GTATTCTAAGACCATTCAGATATTGAAATAGAAACACAGAGCAATTATATAGGTAGAAAAATAGCCTTTATTTTTTTCCCTCAAAGAAAATATAGAGGTAGGGCAAGAAAAACACATGAAATGTGGCATAAAACACAGTAATTTTCAACATTTAATTAACATAAATAAGTTGGGTTTTAAAAATTTAATTTTAGAACTAGGCAGCTATTTCTTTCATACTAATAATATACTTCAAATATCTCATTCTTTTATTATGCCTGGAAGTCTTCATCATTCTTTGGAAAGTTAAGAAATTGCTAAAAGTTGAACTACAGAACAGA... | GTATTCTAAGACCATTCAGATATTGAAATAGAAACACAGAGCAATTATATAGGTAGAAAAATAGCCTTTATTTTTTTCCCTCAAAGAAAATATAGAGGTAGGGCAAGAAAAACACATGAAATGTGGCATAAAACACAGTAATTTTCAACATTTAATTAACATAAATAAGTTGGGTTTTAAAAATTTAATTTTAGAACTAGGCAGCTATTTCTTTCATACTAATAATATACTTCAAATATCTCATTCTTTTATTATGCCTGGAAGTCTTCATCATTCTTTGGAAAGTTAAGAAATTGCTAAAAGTTGAACTACAGAACAGA... | pathogenic | 111,356 |
The chromosome 6, position 107921911 genetic variant in gene SEC63 (SEC63 homolog, protein translocation regulator): benign or pathogenic? If pathogenic, indicate disease(s). | benign | AAAATACTATCAAATAGCATCACATGCTAGAGAAATCTTTCATGAAAAGAATTTAAATGATGTAGTCAATTTAATTGTCGTCTTATTTTAAGAAATTGTCACAGCCAGCCCAACCTTCAGTAACCACTATCCTGATCAGTCAACAGCCATCAACATCAAGGCAAGACCCTCCACCAGCAAAAAGAATGTAATTTGTCAAAGGCTCAGATTACTAGCATTTTTTAGCCATACAGTATTTTTAAATTAAGGTATGTACATTGTTTTTTAAGACATAAGGCTGGCTGGGCACAGTGGCTCACTCCTGTAATCCCAGCACTTTG... | AAAATACTATCAAATAGCATCACATGCTAGAGAAATCTTTCATGAAAAGAATTTAAATGATGTAGTCAATTTAATTGTCGTCTTATTTTAAGAAATTGTCACAGCCAGCCCAACCTTCAGTAACCACTATCCTGATCAGTCAACAGCCATCAACATCAAGGCAAGACCCTCCACCAGCAAAAAGAATGTAATTTGTCAAAGGCTCAGATTACTAGCATTTTTTAGCCATACAGTATTTTTAAATTAAGGTATGTACATTGTTTTTTAAGACATAAGGCTGGCTGGGCACAGTGGCTCACTCCTGTAATCCCAGCACTTTG... | benign | 111,370 |
Evaluate if the mutation on chromosome 6 at position 107921911 in SEC63 (SEC63 homolog, protein translocation regulator) is benign or pathogenic. Disease name(s) if pathogenic? | benign | AAAATACTATCAAATAGCATCACATGCTAGAGAAATCTTTCATGAAAAGAATTTAAATGATGTAGTCAATTTAATTGTCGTCTTATTTTAAGAAATTGTCACAGCCAGCCCAACCTTCAGTAACCACTATCCTGATCAGTCAACAGCCATCAACATCAAGGCAAGACCCTCCACCAGCAAAAAGAATGTAATTTGTCAAAGGCTCAGATTACTAGCATTTTTTAGCCATACAGTATTTTTAAATTAAGGTATGTACATTGTTTTTTAAGACATAAGGCTGGCTGGGCACAGTGGCTCACTCCTGTAATCCCAGCACTTTG... | AAAATACTATCAAATAGCATCACATGCTAGAGAAATCTTTCATGAAAAGAATTTAAATGATGTAGTCAATTTAATTGTCGTCTTATTTTAAGAAATTGTCACAGCCAGCCCAACCTTCAGTAACCACTATCCTGATCAGTCAACAGCCATCAACATCAAGGCAAGACCCTCCACCAGCAAAAAGAATGTAATTTGTCAAAGGCTCAGATTACTAGCATTTTTTAGCCATACAGTATTTTTAAATTAAGGTATGTACATTGTTTTTTAAGACATAAGGCTGGCTGGGCACAGTGGCTCACTCCTGTAATCCCAGCACTTTG... | benign | 111,371 |
Is the genetic variant on chromosome 6, position 107921915, gene SEC63 (SEC63 homolog, protein translocation regulator), benign or pathogenic? If pathogenic, what disease(s) is indicated? | benign | TACTATCAAATAGCATCACATGCTAGAGAAATCTTTCATGAAAAGAATTTAAATGATGTAGTCAATTTAATTGTCGTCTTATTTTAAGAAATTGTCACAGCCAGCCCAACCTTCAGTAACCACTATCCTGATCAGTCAACAGCCATCAACATCAAGGCAAGACCCTCCACCAGCAAAAAGAATGTAATTTGTCAAAGGCTCAGATTACTAGCATTTTTTAGCCATACAGTATTTTTAAATTAAGGTATGTACATTGTTTTTTAAGACATAAGGCTGGCTGGGCACAGTGGCTCACTCCTGTAATCCCAGCACTTTGGGAG... | TACTATCAAATAGCATCACATGCTAGAGAAATCTTTCATGAAAAGAATTTAAATGATGTAGTCAATTTAATTGTCGTCTTATTTTAAGAAATTGTCACAGCCAGCCCAACCTTCAGTAACCACTATCCTGATCAGTCAACAGCCATCAACATCAAGGCAAGACCCTCCACCAGCAAAAAGAATGTAATTTGTCAAAGGCTCAGATTACTAGCATTTTTTAGCCATACAGTATTTTTAAATTAAGGTATGTACATTGTTTTTTAAGACATAAGGCTGGCTGGGCACAGTGGCTCACTCCTGTAATCCCAGCACTTTGGGAG... | benign | 111,372 |
Evaluate this variant at chromosome 6, position 107921915, gene SEC63 (SEC63 homolog, protein translocation regulator): benign or pathogenic? If pathogenic, what are the disease connection(s)? | benign | TACTATCAAATAGCATCACATGCTAGAGAAATCTTTCATGAAAAGAATTTAAATGATGTAGTCAATTTAATTGTCGTCTTATTTTAAGAAATTGTCACAGCCAGCCCAACCTTCAGTAACCACTATCCTGATCAGTCAACAGCCATCAACATCAAGGCAAGACCCTCCACCAGCAAAAAGAATGTAATTTGTCAAAGGCTCAGATTACTAGCATTTTTTAGCCATACAGTATTTTTAAATTAAGGTATGTACATTGTTTTTTAAGACATAAGGCTGGCTGGGCACAGTGGCTCACTCCTGTAATCCCAGCACTTTGGGAG... | TACTATCAAATAGCATCACATGCTAGAGAAATCTTTCATGAAAAGAATTTAAATGATGTAGTCAATTTAATTGTCGTCTTATTTTAAGAAATTGTCACAGCCAGCCCAACCTTCAGTAACCACTATCCTGATCAGTCAACAGCCATCAACATCAAGGCAAGACCCTCCACCAGCAAAAAGAATGTAATTTGTCAAAGGCTCAGATTACTAGCATTTTTTAGCCATACAGTATTTTTAAATTAAGGTATGTACATTGTTTTTTAAGACATAAGGCTGGCTGGGCACAGTGGCTCACTCCTGTAATCCCAGCACTTTGGGAG... | benign | 111,373 |
Evaluate this variant at chromosome 6, position 107921916, gene SEC63 (SEC63 homolog, protein translocation regulator): benign or pathogenic? If pathogenic, what are the disease connection(s)? | benign | ACTATCAAATAGCATCACATGCTAGAGAAATCTTTCATGAAAAGAATTTAAATGATGTAGTCAATTTAATTGTCGTCTTATTTTAAGAAATTGTCACAGCCAGCCCAACCTTCAGTAACCACTATCCTGATCAGTCAACAGCCATCAACATCAAGGCAAGACCCTCCACCAGCAAAAAGAATGTAATTTGTCAAAGGCTCAGATTACTAGCATTTTTTAGCCATACAGTATTTTTAAATTAAGGTATGTACATTGTTTTTTAAGACATAAGGCTGGCTGGGCACAGTGGCTCACTCCTGTAATCCCAGCACTTTGGGAGG... | ACTATCAAATAGCATCACATGCTAGAGAAATCTTTCATGAAAAGAATTTAAATGATGTAGTCAATTTAATTGTCGTCTTATTTTAAGAAATTGTCACAGCCAGCCCAACCTTCAGTAACCACTATCCTGATCAGTCAACAGCCATCAACATCAAGGCAAGACCCTCCACCAGCAAAAAGAATGTAATTTGTCAAAGGCTCAGATTACTAGCATTTTTTAGCCATACAGTATTTTTAAATTAAGGTATGTACATTGTTTTTTAAGACATAAGGCTGGCTGGGCACAGTGGCTCACTCCTGTAATCCCAGCACTTTGGGAGG... | benign | 111,375 |
Determine whether the variant at chromosome 6, position 107921916, in gene SEC63 (SEC63 homolog, protein translocation regulator) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | benign | ACTATCAAATAGCATCACATGCTAGAGAAATCTTTCATGAAAAGAATTTAAATGATGTAGTCAATTTAATTGTCGTCTTATTTTAAGAAATTGTCACAGCCAGCCCAACCTTCAGTAACCACTATCCTGATCAGTCAACAGCCATCAACATCAAGGCAAGACCCTCCACCAGCAAAAAGAATGTAATTTGTCAAAGGCTCAGATTACTAGCATTTTTTAGCCATACAGTATTTTTAAATTAAGGTATGTACATTGTTTTTTAAGACATAAGGCTGGCTGGGCACAGTGGCTCACTCCTGTAATCCCAGCACTTTGGGAGG... | ACTATCAAATAGCATCACATGCTAGAGAAATCTTTCATGAAAAGAATTTAAATGATGTAGTCAATTTAATTGTCGTCTTATTTTAAGAAATTGTCACAGCCAGCCCAACCTTCAGTAACCACTATCCTGATCAGTCAACAGCCATCAACATCAAGGCAAGACCCTCCACCAGCAAAAAGAATGTAATTTGTCAAAGGCTCAGATTACTAGCATTTTTTAGCCATACAGTATTTTTAAATTAAGGTATGTACATTGTTTTTTAAGACATAAGGCTGGCTGGGCACAGTGGCTCACTCCTGTAATCCCAGCACTTTGGGAGG... | benign | 111,376 |
The mutation in gene SEC63 (SEC63 homolog, protein translocation regulator) at chromosome 6, position 107921916—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | benign | ACTATCAAATAGCATCACATGCTAGAGAAATCTTTCATGAAAAGAATTTAAATGATGTAGTCAATTTAATTGTCGTCTTATTTTAAGAAATTGTCACAGCCAGCCCAACCTTCAGTAACCACTATCCTGATCAGTCAACAGCCATCAACATCAAGGCAAGACCCTCCACCAGCAAAAAGAATGTAATTTGTCAAAGGCTCAGATTACTAGCATTTTTTAGCCATACAGTATTTTTAAATTAAGGTATGTACATTGTTTTTTAAGACATAAGGCTGGCTGGGCACAGTGGCTCACTCCTGTAATCCCAGCACTTTGGGAGG... | ACTATCAAATAGCATCACATGCTAGAGAAATCTTTCATGAAAAGAATTTAAATGATGTAGTCAATTTAATTGTCGTCTTATTTTAAGAAATTGTCACAGCCAGCCCAACCTTCAGTAACCACTATCCTGATCAGTCAACAGCCATCAACATCAAGGCAAGACCCTCCACCAGCAAAAAGAATGTAATTTGTCAAAGGCTCAGATTACTAGCATTTTTTAGCCATACAGTATTTTTAAATTAAGGTATGTACATTGTTTTTTAAGACATAAGGCTGGCTGGGCACAGTGGCTCACTCCTGTAATCCCAGCACTTTGGGAGG... | benign | 111,377 |
Variant in gene SEC63 (SEC63 homolog, protein translocation regulator), located at chromosome 6 position 107921917: benign or pathogenic? What disease(s) does it cause if pathogenic? | benign | CTATCAAATAGCATCACATGCTAGAGAAATCTTTCATGAAAAGAATTTAAATGATGTAGTCAATTTAATTGTCGTCTTATTTTAAGAAATTGTCACAGCCAGCCCAACCTTCAGTAACCACTATCCTGATCAGTCAACAGCCATCAACATCAAGGCAAGACCCTCCACCAGCAAAAAGAATGTAATTTGTCAAAGGCTCAGATTACTAGCATTTTTTAGCCATACAGTATTTTTAAATTAAGGTATGTACATTGTTTTTTAAGACATAAGGCTGGCTGGGCACAGTGGCTCACTCCTGTAATCCCAGCACTTTGGGAGGC... | CTATCAAATAGCATCACATGCTAGAGAAATCTTTCATGAAAAGAATTTAAATGATGTAGTCAATTTAATTGTCGTCTTATTTTAAGAAATTGTCACAGCCAGCCCAACCTTCAGTAACCACTATCCTGATCAGTCAACAGCCATCAACATCAAGGCAAGACCCTCCACCAGCAAAAAGAATGTAATTTGTCAAAGGCTCAGATTACTAGCATTTTTTAGCCATACAGTATTTTTAAATTAAGGTATGTACATTGTTTTTTAAGACATAAGGCTGGCTGGGCACAGTGGCTCACTCCTGTAATCCCAGCACTTTGGGAGGC... | benign | 111,379 |
Benign or pathogenic: chromosome 6, position 107921918, gene SEC63 (SEC63 homolog, protein translocation regulator) variant? Disease(s) if pathogenic? | benign | TATCAAATAGCATCACATGCTAGAGAAATCTTTCATGAAAAGAATTTAAATGATGTAGTCAATTTAATTGTCGTCTTATTTTAAGAAATTGTCACAGCCAGCCCAACCTTCAGTAACCACTATCCTGATCAGTCAACAGCCATCAACATCAAGGCAAGACCCTCCACCAGCAAAAAGAATGTAATTTGTCAAAGGCTCAGATTACTAGCATTTTTTAGCCATACAGTATTTTTAAATTAAGGTATGTACATTGTTTTTTAAGACATAAGGCTGGCTGGGCACAGTGGCTCACTCCTGTAATCCCAGCACTTTGGGAGGCC... | TATCAAATAGCATCACATGCTAGAGAAATCTTTCATGAAAAGAATTTAAATGATGTAGTCAATTTAATTGTCGTCTTATTTTAAGAAATTGTCACAGCCAGCCCAACCTTCAGTAACCACTATCCTGATCAGTCAACAGCCATCAACATCAAGGCAAGACCCTCCACCAGCAAAAAGAATGTAATTTGTCAAAGGCTCAGATTACTAGCATTTTTTAGCCATACAGTATTTTTAAATTAAGGTATGTACATTGTTTTTTAAGACATAAGGCTGGCTGGGCACAGTGGCTCACTCCTGTAATCCCAGCACTTTGGGAGGCC... | benign | 111,381 |
Assess the variant on chromosome 6, position 107921919, impacting SEC63 (SEC63 homolog, protein translocation regulator): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | benign | ATCAAATAGCATCACATGCTAGAGAAATCTTTCATGAAAAGAATTTAAATGATGTAGTCAATTTAATTGTCGTCTTATTTTAAGAAATTGTCACAGCCAGCCCAACCTTCAGTAACCACTATCCTGATCAGTCAACAGCCATCAACATCAAGGCAAGACCCTCCACCAGCAAAAAGAATGTAATTTGTCAAAGGCTCAGATTACTAGCATTTTTTAGCCATACAGTATTTTTAAATTAAGGTATGTACATTGTTTTTTAAGACATAAGGCTGGCTGGGCACAGTGGCTCACTCCTGTAATCCCAGCACTTTGGGAGGCCG... | ATCAAATAGCATCACATGCTAGAGAAATCTTTCATGAAAAGAATTTAAATGATGTAGTCAATTTAATTGTCGTCTTATTTTAAGAAATTGTCACAGCCAGCCCAACCTTCAGTAACCACTATCCTGATCAGTCAACAGCCATCAACATCAAGGCAAGACCCTCCACCAGCAAAAAGAATGTAATTTGTCAAAGGCTCAGATTACTAGCATTTTTTAGCCATACAGTATTTTTAAATTAAGGTATGTACATTGTTTTTTAAGACATAAGGCTGGCTGGGCACAGTGGCTCACTCCTGTAATCCCAGCACTTTGGGAGGCCG... | benign | 111,383 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 6, position 107921920, gene SEC63 (SEC63 homolog, protein translocation regulator). What disease(s) is it linked to if pathogenic? | benign | TCAAATAGCATCACATGCTAGAGAAATCTTTCATGAAAAGAATTTAAATGATGTAGTCAATTTAATTGTCGTCTTATTTTAAGAAATTGTCACAGCCAGCCCAACCTTCAGTAACCACTATCCTGATCAGTCAACAGCCATCAACATCAAGGCAAGACCCTCCACCAGCAAAAAGAATGTAATTTGTCAAAGGCTCAGATTACTAGCATTTTTTAGCCATACAGTATTTTTAAATTAAGGTATGTACATTGTTTTTTAAGACATAAGGCTGGCTGGGCACAGTGGCTCACTCCTGTAATCCCAGCACTTTGGGAGGCCGA... | TCAAATAGCATCACATGCTAGAGAAATCTTTCATGAAAAGAATTTAAATGATGTAGTCAATTTAATTGTCGTCTTATTTTAAGAAATTGTCACAGCCAGCCCAACCTTCAGTAACCACTATCCTGATCAGTCAACAGCCATCAACATCAAGGCAAGACCCTCCACCAGCAAAAAGAATGTAATTTGTCAAAGGCTCAGATTACTAGCATTTTTTAGCCATACAGTATTTTTAAATTAAGGTATGTACATTGTTTTTTAAGACATAAGGCTGGCTGGGCACAGTGGCTCACTCCTGTAATCCCAGCACTTTGGGAGGCCGA... | benign | 111,385 |
Variant at chromosome position 107929526, chromosome 6, gene SEC63 (SEC63 homolog, protein translocation regulator): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | benign | AAGTAGTAAAAGTTTTAATGGTTTATGACCTTATCTAAATTGTTACCAGTATATATTTAATTCTTCCTTACCTAAACTCCCTTAATCTGTACTTTAATTAAATCACTTTATTAATCACTAAAAAAGCTTCATAAAAGTTTTTTTCCTTGAAAACAGGTTCAGATACCCACAAAGTGTTGAACAAAGCCAGATAAGAGACTGGGAGGCCAAAAATACATGCGTCCCTTGGTATCCTCAGGGGACTGATTCCAGGACCCCCACAGATACTAAAATCCATGGATGCTCAAGTCCGCAGTATAAAATGATGTAGTATTTGCATA... | AAGTAGTAAAAGTTTTAATGGTTTATGACCTTATCTAAATTGTTACCAGTATATATTTAATTCTTCCTTACCTAAACTCCCTTAATCTGTACTTTAATTAAATCACTTTATTAATCACTAAAAAAGCTTCATAAAAGTTTTTTTCCTTGAAAACAGGTTCAGATACCCACAAAGTGTTGAACAAAGCCAGATAAGAGACTGGGAGGCCAAAAATACATGCGTCCCTTGGTATCCTCAGGGGACTGATTCCAGGACCCCCACAGATACTAAAATCCATGGATGCTCAAGTCCGCAGTATAAAATGATGTAGTATTTGCATA... | benign | 111,391 |
Variant in gene MICAL1 (microtubule associated monooxygenase, calponin and LIM domain containing 1), located at chromosome 6 position 109447382: benign or pathogenic? What disease(s) does it cause if pathogenic? | benign | CAAGAACAGAGCACTGGAGGAACTCTGATCTCAGTCTCAGAACTTTGACCCCATCAGAATTTTGGGAACCCCCGGGCTTCACCTGGGCCTTGCAGAACCTCTTCATCTCCTCCTCCTTCGCACGGCGCAGCAGAGTCCGACGCCATGTTGGGTAGTTATTCATGGTGCCTGAGGTCTTGGCAAAGGTCTGCAGGGCCTATAGGAGGGTCAGGCCAGTCAGGGATAGGGCCTGGGCCCCCTGGTGGATAGGAGTGTTGTTTGGAAAGGCAGAAAATAACCCGTGCTGAAGTGGGGTAAGCTCTGGTAGAAAAGGTAGAGGC... | CAAGAACAGAGCACTGGAGGAACTCTGATCTCAGTCTCAGAACTTTGACCCCATCAGAATTTTGGGAACCCCCGGGCTTCACCTGGGCCTTGCAGAACCTCTTCATCTCCTCCTCCTTCGCACGGCGCAGCAGAGTCCGACGCCATGTTGGGTAGTTATTCATGGTGCCTGAGGTCTTGGCAAAGGTCTGCAGGGCCTATAGGAGGGTCAGGCCAGTCAGGGATAGGGCCTGGGCCCCCTGGTGGATAGGAGTGTTGTTTGGAAAGGCAGAAAATAACCCGTGCTGAAGTGGGGTAAGCTCTGGTAGAAAAGGTAGAGGC... | benign | 111,423 |
Regarding the variant found on chromosome 6 at position 109691513 in gene FIG4 (FIG4 phosphoinositide 5-phosphatase): is it benign or pathogenic? If pathogenic, identify the disease(s). | benign | GACTGGAAGTTCTAGGGCATCAATGTTCTGCCCTATCAGGCTTCATCCAATAACTGATGGAAGTTGGCGAATAAATACTCCAGCTTCCTTGCCCCTCAAGAGGGGATAACTGAGACATGCCTCCCAGTATTCCCTAGTGAATTCAGCCCACAGAGAAATTTCTCTGGTAATATTTCCTTTATTAGTTTTCTTCCCCTCCCTGCTGCTGTTTCCTGGGATTACGTCTCATATAAACAACCTGCCTTCAAAGTTTTGTCTTAGGATCTGATTCCGGGTGAAATAAACTAAGATAAAGTTAAAATGGAAGTGCTAAACTATAA... | GACTGGAAGTTCTAGGGCATCAATGTTCTGCCCTATCAGGCTTCATCCAATAACTGATGGAAGTTGGCGAATAAATACTCCAGCTTCCTTGCCCCTCAAGAGGGGATAACTGAGACATGCCTCCCAGTATTCCCTAGTGAATTCAGCCCACAGAGAAATTTCTCTGGTAATATTTCCTTTATTAGTTTTCTTCCCCTCCCTGCTGCTGTTTCCTGGGATTACGTCTCATATAAACAACCTGCCTTCAAAGTTTTGTCTTAGGATCTGATTCCGGGTGAAATAAACTAAGATAAAGTTAAAATGGAAGTGCTAAACTATAA... | benign | 111,457 |
Variant at chromosome 6, position 109727131, gene FIG4 (FIG4 phosphoinositide 5-phosphatase): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Charcot-Marie-Tooth_disease_type_4'] | TTAGAGTAATTTTTTTTTAAAATTTAAGTTCTGGGATACATGTGCAGAATGTGCAGGTTTGTTACATAGGTATACACACATGCTGTGGTGGTTTGCTGTACCTATCAACCCACCATCTAGGTTTTGAGCCCCACATGCGTTAGGTATTTGTCCTAATGCTCTTCCTCTCCTTGCCCCCACCCCTCGACAGGCCCTGGTGTGTGATGTTCCCCTCCCTATGTCTATGTGTTCTCATTGTTCAGCTCCCACTTATGAGTGAGAACATGCGGTATTTGGTTTTCTGTTCCTGTGTCAGTTTGCTGAGAATGATGGTTTCCTGC... | TTAGAGTAATTTTTTTTTAAAATTTAAGTTCTGGGATACATGTGCAGAATGTGCAGGTTTGTTACATAGGTATACACACATGCTGTGGTGGTTTGCTGTACCTATCAACCCACCATCTAGGTTTTGAGCCCCACATGCGTTAGGTATTTGTCCTAATGCTCTTCCTCTCCTTGCCCCCACCCCTCGACAGGCCCTGGTGTGTGATGTTCCCCTCCCTATGTCTATGTGTTCTCATTGTTCAGCTCCCACTTATGAGTGAGAACATGCGGTATTTGGTTTTCTGTTCCTGTGTCAGTTTGCTGAGAATGATGGTTTCCTGC... | pathogenic | 111,467 |
Does the genetic variant at chromosome 6, position 109727286, impacting gene FIG4 (FIG4 phosphoinositide 5-phosphatase), appear benign or pathogenic? If pathogenic, name the associated disease(s). | benign | ATGCTCTTCCTCTCCTTGCCCCCACCCCTCGACAGGCCCTGGTGTGTGATGTTCCCCTCCCTATGTCTATGTGTTCTCATTGTTCAGCTCCCACTTATGAGTGAGAACATGCGGTATTTGGTTTTCTGTTCCTGTGTCAGTTTGCTGAGAATGATGGTTTCCTGCTTCATCCATGTCCCTGCAAAGGACATGAACTCATCCTTTTTTATGGCTGCATAGTATTCCATGGTGTATATGTGCCACGTTTCCTTTATCCAGTCTATCATTGATGAGCATTTGGGTTGGTTCCAAGTTTTTGCTATTGTAAAATGATGCTGCAG... | ATGCTCTTCCTCTCCTTGCCCCCACCCCTCGACAGGCCCTGGTGTGTGATGTTCCCCTCCCTATGTCTATGTGTTCTCATTGTTCAGCTCCCACTTATGAGTGAGAACATGCGGTATTTGGTTTTCTGTTCCTGTGTCAGTTTGCTGAGAATGATGGTTTCCTGCTTCATCCATGTCCCTGCAAAGGACATGAACTCATCCTTTTTTATGGCTGCATAGTATTCCATGGTGTATATGTGCCACGTTTCCTTTATCCAGTCTATCATTGATGAGCATTTGGGTTGGTTCCAAGTTTTTGCTATTGTAAAATGATGCTGCAG... | benign | 111,469 |
Classify the chromosome 6 variant at position 109732617 affecting gene FIG4 (FIG4 phosphoinositide 5-phosphatase) as benign or pathogenic. If pathogenic, which disease(s) is associated? | benign | TTGGTGGAGGAATTGATGGGGGTCAATGAACAGTGTTGAGAAAGCCTAGAAAAAGATCCATTTTATGTGGCAAACTGGAATATGATAGAGTGAGCATTACAAGTCATTGGGGGAAAAGATGGGATAAATAGTGTTGGTTTTCCAGTTGGACAAAAATGAAATTTGATTCCATTCTCTGATAATATTCAGGAAGCAATTCCAGAAGTACAAAGATAATTTTAAGAAAATAAAGGTAAATATTTTTATAATCCTGGTATGGAAAAGGATTTTACAAACAAAATACAAAATGCATAAACCATAAGGCAAACAATGCTATATTT... | TTGGTGGAGGAATTGATGGGGGTCAATGAACAGTGTTGAGAAAGCCTAGAAAAAGATCCATTTTATGTGGCAAACTGGAATATGATAGAGTGAGCATTACAAGTCATTGGGGGAAAAGATGGGATAAATAGTGTTGGTTTTCCAGTTGGACAAAAATGAAATTTGATTCCATTCTCTGATAATATTCAGGAAGCAATTCCAGAAGTACAAAGATAATTTTAAGAAAATAAAGGTAAATATTTTTATAATCCTGGTATGGAAAAGGATTTTACAAACAAAATACAAAATGCATAAACCATAAGGCAAACAATGCTATATTT... | benign | 111,470 |
A genetic alteration at chromosome 6, position 109732621, in gene FIG4 (FIG4 phosphoinositide 5-phosphatase)—benign or pathogenic? If pathogenic, which disease(s) is involved? | benign | TGGAGGAATTGATGGGGGTCAATGAACAGTGTTGAGAAAGCCTAGAAAAAGATCCATTTTATGTGGCAAACTGGAATATGATAGAGTGAGCATTACAAGTCATTGGGGGAAAAGATGGGATAAATAGTGTTGGTTTTCCAGTTGGACAAAAATGAAATTTGATTCCATTCTCTGATAATATTCAGGAAGCAATTCCAGAAGTACAAAGATAATTTTAAGAAAATAAAGGTAAATATTTTTATAATCCTGGTATGGAAAAGGATTTTACAAACAAAATACAAAATGCATAAACCATAAGGCAAACAATGCTATATTTGATA... | TGGAGGAATTGATGGGGGTCAATGAACAGTGTTGAGAAAGCCTAGAAAAAGATCCATTTTATGTGGCAAACTGGAATATGATAGAGTGAGCATTACAAGTCATTGGGGGAAAAGATGGGATAAATAGTGTTGGTTTTCCAGTTGGACAAAAATGAAATTTGATTCCATTCTCTGATAATATTCAGGAAGCAATTCCAGAAGTACAAAGATAATTTTAAGAAAATAAAGGTAAATATTTTTATAATCCTGGTATGGAAAAGGATTTTACAAACAAAATACAAAATGCATAAACCATAAGGCAAACAATGCTATATTTGATA... | benign | 111,471 |
Considering the variant on chromosome 6, location 109732621, involving gene FIG4 (FIG4 phosphoinositide 5-phosphatase), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | benign | TGGAGGAATTGATGGGGGTCAATGAACAGTGTTGAGAAAGCCTAGAAAAAGATCCATTTTATGTGGCAAACTGGAATATGATAGAGTGAGCATTACAAGTCATTGGGGGAAAAGATGGGATAAATAGTGTTGGTTTTCCAGTTGGACAAAAATGAAATTTGATTCCATTCTCTGATAATATTCAGGAAGCAATTCCAGAAGTACAAAGATAATTTTAAGAAAATAAAGGTAAATATTTTTATAATCCTGGTATGGAAAAGGATTTTACAAACAAAATACAAAATGCATAAACCATAAGGCAAACAATGCTATATTTGATA... | TGGAGGAATTGATGGGGGTCAATGAACAGTGTTGAGAAAGCCTAGAAAAAGATCCATTTTATGTGGCAAACTGGAATATGATAGAGTGAGCATTACAAGTCATTGGGGGAAAAGATGGGATAAATAGTGTTGGTTTTCCAGTTGGACAAAAATGAAATTTGATTCCATTCTCTGATAATATTCAGGAAGCAATTCCAGAAGTACAAAGATAATTTTAAGAAAATAAAGGTAAATATTTTTATAATCCTGGTATGGAAAAGGATTTTACAAACAAAATACAAAATGCATAAACCATAAGGCAAACAATGCTATATTTGATA... | benign | 111,472 |
Gene mutation in FIG4 (FIG4 phosphoinositide 5-phosphatase) at chromosome 6, position 109732621—is it benign or pathogenic? If pathogenic, specify the disease(s). | benign | TGGAGGAATTGATGGGGGTCAATGAACAGTGTTGAGAAAGCCTAGAAAAAGATCCATTTTATGTGGCAAACTGGAATATGATAGAGTGAGCATTACAAGTCATTGGGGGAAAAGATGGGATAAATAGTGTTGGTTTTCCAGTTGGACAAAAATGAAATTTGATTCCATTCTCTGATAATATTCAGGAAGCAATTCCAGAAGTACAAAGATAATTTTAAGAAAATAAAGGTAAATATTTTTATAATCCTGGTATGGAAAAGGATTTTACAAACAAAATACAAAATGCATAAACCATAAGGCAAACAATGCTATATTTGATA... | TGGAGGAATTGATGGGGGTCAATGAACAGTGTTGAGAAAGCCTAGAAAAAGATCCATTTTATGTGGCAAACTGGAATATGATAGAGTGAGCATTACAAGTCATTGGGGGAAAAGATGGGATAAATAGTGTTGGTTTTCCAGTTGGACAAAAATGAAATTTGATTCCATTCTCTGATAATATTCAGGAAGCAATTCCAGAAGTACAAAGATAATTTTAAGAAAATAAAGGTAAATATTTTTATAATCCTGGTATGGAAAAGGATTTTACAAACAAAATACAAAATGCATAAACCATAAGGCAAACAATGCTATATTTGATA... | benign | 111,474 |
Determine if the mutation at chromosome 6, position 109738434 in gene FIG4 (FIG4 phosphoinositide 5-phosphatase) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Amyotrophic_lateral_sclerosis_type_11', 'Charcot-Marie-Tooth_disease', 'Charcot-Marie-Tooth_disease_type_4', 'Charcot-Marie-Tooth_disease_type_4J'] | ATCACTTGAGCTAAGGTCAAACCCAGGGCACCCTCCCTACTCCCAGATCATTAGATCACATACATTTGCCCTGGTTCAGACACTCTGGTGGTAACCCATACCACTAGAGACAGATAGAGGGCAAGACAACTGGTGTGTTTGAATATTTGCTTGCAACGCTTCTGAATGTCACAATTTGTAATACAAAAGCTGAAAGTATCACTAAATTTGCCCCACATGCCATCCAAAATCTGAATTTGAATATCTGTTCTGGGATGTGAATTAAGCCTCCAATGCTACTAAATTTTTTGCCATCTCTGGAGCAATTCTACTTGATAGAT... | ATCACTTGAGCTAAGGTCAAACCCAGGGCACCCTCCCTACTCCCAGATCATTAGATCACATACATTTGCCCTGGTTCAGACACTCTGGTGGTAACCCATACCACTAGAGACAGATAGAGGGCAAGACAACTGGTGTGTTTGAATATTTGCTTGCAACGCTTCTGAATGTCACAATTTGTAATACAAAAGCTGAAAGTATCACTAAATTTGCCCCACATGCCATCCAAAATCTGAATTTGAATATCTGTTCTGGGATGTGAATTAAGCCTCCAATGCTACTAAATTTTTTGCCATCTCTGGAGCAATTCTACTTGATAGAT... | pathogenic | 111,487 |
Gene FIG4 (FIG4 phosphoinositide 5-phosphatase) variant at chromosome 6, position 109741497—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Bilateral_parasagittal_parieto-occipital_polymicrogyria', 'Charcot-Marie-Tooth_disease_type_4', 'Charcot-Marie-Tooth_disease_type_4J', 'Inborn_genetic_diseases', 'Yunis-Varon_syndrome'] | GGCGTTTGTACATTTTCCCCCCACAGATAAGAAGTATTTGTAATGGATTTGTATTTTTCTTAGTTTTATTCTCTTTAGACATTTAAAAGAACCAAAAAAGAAACTTTTGCTTCTTCATTTTCAGTTGGGATTTGCAGTTTAATGGCCTCACATCTTTCTCCAGATCCCCAGGGTTTCTTTGTCTTATTTATGGAGAAAAACCAGTCACTTTGTCCAGCGCACTGTGAGGCCCCACTCAGGCCAGCCCTGGCCCCCCTTGGTACTTGGAACCGAAGTTACAGATCTATATTAAAATAATAATAATGTACAAAAAAAAATTT... | GGCGTTTGTACATTTTCCCCCCACAGATAAGAAGTATTTGTAATGGATTTGTATTTTTCTTAGTTTTATTCTCTTTAGACATTTAAAAGAACCAAAAAAGAAACTTTTGCTTCTTCATTTTCAGTTGGGATTTGCAGTTTAATGGCCTCACATCTTTCTCCAGATCCCCAGGGTTTCTTTGTCTTATTTATGGAGAAAAACCAGTCACTTTGTCCAGCGCACTGTGAGGCCCCACTCAGGCCAGCCCTGGCCCCCCTTGGTACTTGGAACCGAAGTTACAGATCTATATTAAAATAATAATAATGTACAAAAAAAAATTT... | pathogenic | 111,492 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 6, position 109760351, gene FIG4 (FIG4 phosphoinositide 5-phosphatase). What disease(s) is it linked to if pathogenic? | pathogenic; ['Charcot-Marie-Tooth_disease', 'Inborn_genetic_diseases', 'Yunis-Varon_syndrome'] | ACACATCTACAACCATCTGATCTTTGACAAACTTGACAAAAGCAAGTAATGGGGAGAGGATTCCTTATTTAATAAATGGTGCTGGGAAAACTGGCTAGCCATATGCAGAAAACAGAAACTGGATCCTTTCCTTGCACCTTATATAAAAATTAACTCCAGATGGATTAAACACTTAAATGTAAGACCTAAAACCAAAAAAGCCCTAGAAGAAAACCTAGGCAATACTATTCAGGACATAGGCATAGGCAAAGACTTCATGACTAAAACACCAAAAGCAATGGCAACAAAAGCCAAAATTGACAAATAGGATCTGATTAAAC... | ACACATCTACAACCATCTGATCTTTGACAAACTTGACAAAAGCAAGTAATGGGGAGAGGATTCCTTATTTAATAAATGGTGCTGGGAAAACTGGCTAGCCATATGCAGAAAACAGAAACTGGATCCTTTCCTTGCACCTTATATAAAAATTAACTCCAGATGGATTAAACACTTAAATGTAAGACCTAAAACCAAAAAAGCCCTAGAAGAAAACCTAGGCAATACTATTCAGGACATAGGCATAGGCAAAGACTTCATGACTAAAACACCAAAAGCAATGGCAACAAAAGCCAAAATTGACAAATAGGATCTGATTAAAC... | pathogenic | 111,502 |
Is the genetic change at chromosome 6, position 109762188, within gene FIG4 (FIG4 phosphoinositide 5-phosphatase) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Charcot-Marie-Tooth_disease', 'Charcot-Marie-Tooth_disease_type_4', 'Charcot-Marie-Tooth_disease_type_4J', 'Inborn_genetic_diseases'] | TTTAAGACTTGGATTTTTTTGTCTTAGCTTAGCTTAAAAGTAAACATGTTGAGCCTGTTCCTCTGATTTAAGGAAATTAGAACACTGAAAATGTTTAATTTTTGATAAAGGAACGAGAGAAAAGAAAGCATGAAAGAATTCTGAGTGAAGAACTTGTTGCTGCTGTGACCTATCTCAACCAATTTTTGCCTCCTGAGCACACTATTGTTTATATTCCCTGGGACATGGCCAAGTATACCAAAAGGTGAATGATACTCATCTGTCTGGCTATGATCGTTTCCTTTTCTTGTGATGAGAAATAACAGGAAGCTGACCTCTGT... | TTTAAGACTTGGATTTTTTTGTCTTAGCTTAGCTTAAAAGTAAACATGTTGAGCCTGTTCCTCTGATTTAAGGAAATTAGAACACTGAAAATGTTTAATTTTTGATAAAGGAACGAGAGAAAAGAAAGCATGAAAGAATTCTGAGTGAAGAACTTGTTGCTGCTGTGACCTATCTCAACCAATTTTTGCCTCCTGAGCACACTATTGTTTATATTCCCTGGGACATGGCCAAGTATACCAAAAGGTGAATGATACTCATCTGTCTGGCTATGATCGTTTCCTTTTCTTGTGATGAGAAATAACAGGAAGCTGACCTCTGT... | pathogenic | 111,510 |
Is the genetic variant on chromosome 6, position 109766807, gene FIG4 (FIG4 phosphoinositide 5-phosphatase), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Charcot-Marie-Tooth_disease_type_4', 'Charcot-Marie-Tooth_disease_type_4J', 'FIG4-related_disorder'] | AAATATAGACCAGAAGATTTAACGGTGCTGTTACAGCAATGTATAACCTTATGCAACTTTAAACATGTTCTTTATTATTTTGACTTTACATAAAACTGAATAATATTTGTTCAGGAATAATACCTGCCCACAGACTTTTTTTGTTTTTGTTTTTGTTTTTGTTTTTGTTTTTGTTTCTTAAAGAAATCTAAAGTAGTATGGAAGTTCTTTGGTGATGGAATAATGATTGAAAATCTTAAGGTATTTCTCTTTAGACTGGCATCCTTCGAACCAACTGTGTGGACTGTTTAGATCGCACCAACACAGCACAGTTTATGGTG... | AAATATAGACCAGAAGATTTAACGGTGCTGTTACAGCAATGTATAACCTTATGCAACTTTAAACATGTTCTTTATTATTTTGACTTTACATAAAACTGAATAATATTTGTTCAGGAATAATACCTGCCCACAGACTTTTTTTGTTTTTGTTTTTGTTTTTGTTTTTGTTTTTGTTTCTTAAAGAAATCTAAAGTAGTATGGAAGTTCTTTGGTGATGGAATAATGATTGAAAATCTTAAGGTATTTCTCTTTAGACTGGCATCCTTCGAACCAACTGTGTGGACTGTTTAGATCGCACCAACACAGCACAGTTTATGGTG... | pathogenic | 111,517 |
Gene mutation in FIG4 (FIG4 phosphoinositide 5-phosphatase) at chromosome 6, position 109766890—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Charcot-Marie-Tooth_disease_type_4', 'Inborn_genetic_diseases'] | CTTTACATAAAACTGAATAATATTTGTTCAGGAATAATACCTGCCCACAGACTTTTTTTGTTTTTGTTTTTGTTTTTGTTTTTGTTTTTGTTTCTTAAAGAAATCTAAAGTAGTATGGAAGTTCTTTGGTGATGGAATAATGATTGAAAATCTTAAGGTATTTCTCTTTAGACTGGCATCCTTCGAACCAACTGTGTGGACTGTTTAGATCGCACCAACACAGCACAGTTTATGGTGGGAAAATGTGCTCTGGCCTATCAGCTGTATTCACTGGGACTGATTGACAAACCTAATCTACAGTTTGATACAGATGCAGTTAG... | CTTTACATAAAACTGAATAATATTTGTTCAGGAATAATACCTGCCCACAGACTTTTTTTGTTTTTGTTTTTGTTTTTGTTTTTGTTTTTGTTTCTTAAAGAAATCTAAAGTAGTATGGAAGTTCTTTGGTGATGGAATAATGATTGAAAATCTTAAGGTATTTCTCTTTAGACTGGCATCCTTCGAACCAACTGTGTGGACTGTTTAGATCGCACCAACACAGCACAGTTTATGGTGGGAAAATGTGCTCTGGCCTATCAGCTGTATTCACTGGGACTGATTGACAAACCTAATCTACAGTTTGATACAGATGCAGTTAG... | pathogenic | 111,519 |
Determine if the mutation at chromosome 6, position 109766894 in gene FIG4 (FIG4 phosphoinositide 5-phosphatase) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Charcot-Marie-Tooth_disease_type_4', 'Yunis-Varon_syndrome'] | ACATAAAACTGAATAATATTTGTTCAGGAATAATACCTGCCCACAGACTTTTTTTGTTTTTGTTTTTGTTTTTGTTTTTGTTTTTGTTTCTTAAAGAAATCTAAAGTAGTATGGAAGTTCTTTGGTGATGGAATAATGATTGAAAATCTTAAGGTATTTCTCTTTAGACTGGCATCCTTCGAACCAACTGTGTGGACTGTTTAGATCGCACCAACACAGCACAGTTTATGGTGGGAAAATGTGCTCTGGCCTATCAGCTGTATTCACTGGGACTGATTGACAAACCTAATCTACAGTTTGATACAGATGCAGTTAGGTAA... | ACATAAAACTGAATAATATTTGTTCAGGAATAATACCTGCCCACAGACTTTTTTTGTTTTTGTTTTTGTTTTTGTTTTTGTTTTTGTTTCTTAAAGAAATCTAAAGTAGTATGGAAGTTCTTTGGTGATGGAATAATGATTGAAAATCTTAAGGTATTTCTCTTTAGACTGGCATCCTTCGAACCAACTGTGTGGACTGTTTAGATCGCACCAACACAGCACAGTTTATGGTGGGAAAATGTGCTCTGGCCTATCAGCTGTATTCACTGGGACTGATTGACAAACCTAATCTACAGTTTGATACAGATGCAGTTAGGTAA... | pathogenic | 111,520 |
Evaluate this variant at chromosome 6, position 109776978, gene FIG4 (FIG4 phosphoinositide 5-phosphatase): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Bilateral_parasagittal_parieto-occipital_polymicrogyria', 'Charcot-Marie-Tooth_disease_type_4', 'Inborn_genetic_diseases'] | ACTTAATATTAGAATAAGAGCTATTTCAGTTCAAAAATGAATTTTTTTCTCTAATTAAAAAGAATTGTTATATTTAAACCTGATCTATTTAAATGTAGTCAGTAGTAAAATTGGCTAATGTTTAACCTGTTTGAATGGTATTTGGTGCATATTCTTTCTTCCCTTCAAGCACAATTAAACATAAAAGTGGCTAATCATTTCGCCCTCTTGTTATCCACAACCACAGAGAGCCTACCAGTTTTAAACCCTTGTTCATATCCAGAGTACCACCATCTTCCTGGAGGTGATTGTTTTATTTGCAGTCAGAAGTAGCCAGGAGA... | ACTTAATATTAGAATAAGAGCTATTTCAGTTCAAAAATGAATTTTTTTCTCTAATTAAAAAGAATTGTTATATTTAAACCTGATCTATTTAAATGTAGTCAGTAGTAAAATTGGCTAATGTTTAACCTGTTTGAATGGTATTTGGTGCATATTCTTTCTTCCCTTCAAGCACAATTAAACATAAAAGTGGCTAATCATTTCGCCCTCTTGTTATCCACAACCACAGAGAGCCTACCAGTTTTAAACCCTTGTTCATATCCAGAGTACCACCATCTTCCTGGAGGTGATTGTTTTATTTGCAGTCAGAAGTAGCCAGGAGA... | pathogenic | 111,523 |
Is chromosome 6, position 109791436, gene FIG4 (FIG4 phosphoinositide 5-phosphatase) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Amyotrophic_lateral_sclerosis_type_11', 'Bilateral_parasagittal_parieto-occipital_polymicrogyria', 'Charcot-Marie-Tooth_disease', 'Charcot-Marie-Tooth_disease_type_4', 'Charcot-Marie-Tooth_disease_type_4J', 'Yunis-Varon_syndrome'] | AGAATTCACAATTAAGACTGATAACATTGAAATTATCTAGTGCTGTTAATTCATGGTTTTATGTCCCTGACAAGTTGGCTCAGAATATGTAATATGTAACTCCTAGAGTTAAGAAGGAATATTGTAAGAGTGTGAACTGAGATGGAAGCCAATATCATCTGGATGGACAGTAATTCATATGTAATTGTGTTTTCACCTTTCTTTAGTGACTTTATGCCTAAGACCGTTGGAATTGATCCAAGTCCATTTACTGTGCGTAAACCAGATGAAACTGGAAAATCAGTATTGGGGTAAGATTTGTGTATAGAACGAAACTTTAA... | AGAATTCACAATTAAGACTGATAACATTGAAATTATCTAGTGCTGTTAATTCATGGTTTTATGTCCCTGACAAGTTGGCTCAGAATATGTAATATGTAACTCCTAGAGTTAAGAAGGAATATTGTAAGAGTGTGAACTGAGATGGAAGCCAATATCATCTGGATGGACAGTAATTCATATGTAATTGTGTTTTCACCTTTCTTTAGTGACTTTATGCCTAAGACCGTTGGAATTGATCCAAGTCCATTTACTGTGCGTAAACCAGATGAAACTGGAAAATCAGTATTGGGGTAAGATTTGTGTATAGAACGAAACTTTAA... | pathogenic | 111,544 |
A genetic variant on chromosome 6, position 109791477, affects the gene FIG4 (FIG4 phosphoinositide 5-phosphatase). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Charcot-Marie-Tooth_disease_type_4', 'Yunis-Varon_syndrome'] | GCTGTTAATTCATGGTTTTATGTCCCTGACAAGTTGGCTCAGAATATGTAATATGTAACTCCTAGAGTTAAGAAGGAATATTGTAAGAGTGTGAACTGAGATGGAAGCCAATATCATCTGGATGGACAGTAATTCATATGTAATTGTGTTTTCACCTTTCTTTAGTGACTTTATGCCTAAGACCGTTGGAATTGATCCAAGTCCATTTACTGTGCGTAAACCAGATGAAACTGGAAAATCAGTATTGGGGTAAGATTTGTGTATAGAACGAAACTTTAAAGATTTGTGTAAAAGAATAGTACTTGCAATATGATTTCCAC... | GCTGTTAATTCATGGTTTTATGTCCCTGACAAGTTGGCTCAGAATATGTAATATGTAACTCCTAGAGTTAAGAAGGAATATTGTAAGAGTGTGAACTGAGATGGAAGCCAATATCATCTGGATGGACAGTAATTCATATGTAATTGTGTTTTCACCTTTCTTTAGTGACTTTATGCCTAAGACCGTTGGAATTGATCCAAGTCCATTTACTGTGCGTAAACCAGATGAAACTGGAAAATCAGTATTGGGGTAAGATTTGTGTATAGAACGAAACTTTAAAGATTTGTGTAAAAGAATAGTACTTGCAATATGATTTCCAC... | pathogenic | 111,546 |
Mutation at chromosome 6, position 109791491, within FIG4 (FIG4 phosphoinositide 5-phosphatase): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Charcot-Marie-Tooth_disease', 'Charcot-Marie-Tooth_disease_type_4', 'Charcot-Marie-Tooth_disease_type_4J', 'Inborn_genetic_diseases'] | GTTTTATGTCCCTGACAAGTTGGCTCAGAATATGTAATATGTAACTCCTAGAGTTAAGAAGGAATATTGTAAGAGTGTGAACTGAGATGGAAGCCAATATCATCTGGATGGACAGTAATTCATATGTAATTGTGTTTTCACCTTTCTTTAGTGACTTTATGCCTAAGACCGTTGGAATTGATCCAAGTCCATTTACTGTGCGTAAACCAGATGAAACTGGAAAATCAGTATTGGGGTAAGATTTGTGTATAGAACGAAACTTTAAAGATTTGTGTAAAAGAATAGTACTTGCAATATGATTTCCACCAAAAACTAATAAC... | GTTTTATGTCCCTGACAAGTTGGCTCAGAATATGTAATATGTAACTCCTAGAGTTAAGAAGGAATATTGTAAGAGTGTGAACTGAGATGGAAGCCAATATCATCTGGATGGACAGTAATTCATATGTAATTGTGTTTTCACCTTTCTTTAGTGACTTTATGCCTAAGACCGTTGGAATTGATCCAAGTCCATTTACTGTGCGTAAACCAGATGAAACTGGAAAATCAGTATTGGGGTAAGATTTGTGTATAGAACGAAACTTTAAAGATTTGTGTAAAAGAATAGTACTTGCAATATGATTTCCACCAAAAACTAATAAC... | pathogenic | 111,548 |
Evaluate if the mutation on chromosome 6 at position 109792560 in FIG4 (FIG4 phosphoinositide 5-phosphatase) is benign or pathogenic. Disease name(s) if pathogenic? | benign | GTCACAGAAACGTTACCAACTTTAATTTTTAGTTGCAAAAGGTCAGAGACTGCTTGTTTTCTGCAATATCTAACCCATGGTCACATAAAATTGCATTTTCCTTTCCTAGAACATTTCAAAATATTATGGTATTTTTAGCTCCTTATAGAGAATTTTTTAAAGAGTGAAATATTAAACATTTTTCATAAAGCAAAAAGTATTACTATAAATGGTTTTCTGAATTTAAAAAACAGCATTCTTACTACTCTTCCAATTTGGCATTAAAATGAAAGTAAATACTTTTATAAGTGTAGGGTTTTCCCCCCTTCTATTCCCTACTA... | GTCACAGAAACGTTACCAACTTTAATTTTTAGTTGCAAAAGGTCAGAGACTGCTTGTTTTCTGCAATATCTAACCCATGGTCACATAAAATTGCATTTTCCTTTCCTAGAACATTTCAAAATATTATGGTATTTTTAGCTCCTTATAGAGAATTTTTTAAAGAGTGAAATATTAAACATTTTTCATAAAGCAAAAAGTATTACTATAAATGGTTTTCTGAATTTAAAAAACAGCATTCTTACTACTCTTCCAATTTGGCATTAAAATGAAAGTAAATACTTTTATAAGTGTAGGGTTTTCCCCCCTTCTATTCCCTACTA... | benign | 111,552 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 6, position 109792560, gene FIG4 (FIG4 phosphoinositide 5-phosphatase). What disease(s) is it linked to if pathogenic? | benign | GTCACAGAAACGTTACCAACTTTAATTTTTAGTTGCAAAAGGTCAGAGACTGCTTGTTTTCTGCAATATCTAACCCATGGTCACATAAAATTGCATTTTCCTTTCCTAGAACATTTCAAAATATTATGGTATTTTTAGCTCCTTATAGAGAATTTTTTAAAGAGTGAAATATTAAACATTTTTCATAAAGCAAAAAGTATTACTATAAATGGTTTTCTGAATTTAAAAAACAGCATTCTTACTACTCTTCCAATTTGGCATTAAAATGAAAGTAAATACTTTTATAAGTGTAGGGTTTTCCCCCCTTCTATTCCCTACTA... | GTCACAGAAACGTTACCAACTTTAATTTTTAGTTGCAAAAGGTCAGAGACTGCTTGTTTTCTGCAATATCTAACCCATGGTCACATAAAATTGCATTTTCCTTTCCTAGAACATTTCAAAATATTATGGTATTTTTAGCTCCTTATAGAGAATTTTTTAAAGAGTGAAATATTAAACATTTTTCATAAAGCAAAAAGTATTACTATAAATGGTTTTCTGAATTTAAAAAACAGCATTCTTACTACTCTTCCAATTTGGCATTAAAATGAAAGTAAATACTTTTATAAGTGTAGGGTTTTCCCCCCTTCTATTCCCTACTA... | benign | 111,553 |
Is the genetic change at chromosome 6, position 109792562, within gene FIG4 (FIG4 phosphoinositide 5-phosphatase) benign or pathogenic? Name the disease(s) if pathogenic. | benign | CACAGAAACGTTACCAACTTTAATTTTTAGTTGCAAAAGGTCAGAGACTGCTTGTTTTCTGCAATATCTAACCCATGGTCACATAAAATTGCATTTTCCTTTCCTAGAACATTTCAAAATATTATGGTATTTTTAGCTCCTTATAGAGAATTTTTTAAAGAGTGAAATATTAAACATTTTTCATAAAGCAAAAAGTATTACTATAAATGGTTTTCTGAATTTAAAAAACAGCATTCTTACTACTCTTCCAATTTGGCATTAAAATGAAAGTAAATACTTTTATAAGTGTAGGGTTTTCCCCCCTTCTATTCCCTACTATT... | CACAGAAACGTTACCAACTTTAATTTTTAGTTGCAAAAGGTCAGAGACTGCTTGTTTTCTGCAATATCTAACCCATGGTCACATAAAATTGCATTTTCCTTTCCTAGAACATTTCAAAATATTATGGTATTTTTAGCTCCTTATAGAGAATTTTTTAAAGAGTGAAATATTAAACATTTTTCATAAAGCAAAAAGTATTACTATAAATGGTTTTCTGAATTTAAAAAACAGCATTCTTACTACTCTTCCAATTTGGCATTAAAATGAAAGTAAATACTTTTATAAGTGTAGGGTTTTCCCCCCTTCTATTCCCTACTATT... | benign | 111,554 |
Is the genetic mutation found on chromosome 6 at position 112054391, within the gene CCN6 (cellular communication network factor 6), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Progressive_pseudorheumatoid_dysplasia'] | CCTTTCTTCCAGTTGATCGAATCGGCTACTGAAGCTTGTGCATTCATCACGTAGTTCTCGTGCCATGGTTTTCAGCTCCATCAGGTCATTTAAGGACTTCTCTACAGTGAGAACACTGGGACACAGGAAGGGGAACATCACACACCGGGGCCTGTTGTGGGGTGGGGGGAGGGGGGAGGGATAGCATTAGGAGATATGCCTAATGCTAAAGGACGAGTTAATGGGTGCAGCACACCAACATGGCACATGTATACATATGTAACTAACCTGCACATTGTGCACATGTACCCTAGAACTTGAAGTATAATAATAAAAAAAAA... | CCTTTCTTCCAGTTGATCGAATCGGCTACTGAAGCTTGTGCATTCATCACGTAGTTCTCGTGCCATGGTTTTCAGCTCCATCAGGTCATTTAAGGACTTCTCTACAGTGAGAACACTGGGACACAGGAAGGGGAACATCACACACCGGGGCCTGTTGTGGGGTGGGGGGAGGGGGGAGGGATAGCATTAGGAGATATGCCTAATGCTAAAGGACGAGTTAATGGGTGCAGCACACCAACATGGCACATGTATACATATGTAACTAACCTGCACATTGTGCACATGTACCCTAGAACTTGAAGTATAATAATAAAAAAAAA... | pathogenic | 111,601 |
Gene mutation in CCN6 (cellular communication network factor 6) at chromosome 6, position 112061187—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Progressive_pseudorheumatoid_dysplasia'] | CCTGCCTGCCTGATTTAAATCAGTCTTCTATCACTTACTTGATATGTCACATAGGACAACTTAAATAATTTGAGTCTCAGGGTCCTCATTTACAAAATGGAGTATACAGTTTCCTATTGCTGCTGTAAGAAATCACCAACTTGAATGGCTTAAAACAACATGATTATCTACAGTTCTGGACATCTGATGTCCAAAAATGGGTCTTACAGGGCTAAAATCAAGCGTTGGCAGGACTGCCTCCCTTCTGGAGGTGGCAGGGGAGAATCCATTCTTTGCCTGTTCCAGCTTTTAAAGGCTGTCTGGCTTCCTTGGACCATGAC... | CCTGCCTGCCTGATTTAAATCAGTCTTCTATCACTTACTTGATATGTCACATAGGACAACTTAAATAATTTGAGTCTCAGGGTCCTCATTTACAAAATGGAGTATACAGTTTCCTATTGCTGCTGTAAGAAATCACCAACTTGAATGGCTTAAAACAACATGATTATCTACAGTTCTGGACATCTGATGTCCAAAAATGGGTCTTACAGGGCTAAAATCAAGCGTTGGCAGGACTGCCTCCCTTCTGGAGGTGGCAGGGGAGAATCCATTCTTTGCCTGTTCCAGCTTTTAAAGGCTGTCTGGCTTCCTTGGACCATGAC... | pathogenic | 111,612 |
The mutation impacting CCN6 (cellular communication network factor 6) on chromosome 6 at position 112064942: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic | ATGAGGACCTAAAGAGGTTTTATGTGGGTTTTATCATTGATATTTGATGGATTAGAAATTTAGAAATATTTATTCACTTAAAAAGAATAAACCCATTGCAGATTAATAAGAATAACGTTTTTATGAAAAAACATGTAACTTATTTTCCAAAGAAAAATTTAGTAAAAGAGTGTCATTGTTTTACATTTTTTGCAAATCTCTCTAGTGTCTAGCTCAATAGAAGATAGCTAGAGTCGCACATTTGCTGCTTCTTTCAATCTGTTACTATGTGTTTTTCTGGTTGAAATATGTGAAGAAAATCTGGCATCACACAGATATGT... | ATGAGGACCTAAAGAGGTTTTATGTGGGTTTTATCATTGATATTTGATGGATTAGAAATTTAGAAATATTTATTCACTTAAAAAGAATAAACCCATTGCAGATTAATAAGAATAACGTTTTTATGAAAAAACATGTAACTTATTTTCCAAAGAAAAATTTAGTAAAAGAGTGTCATTGTTTTACATTTTTTGCAAATCTCTCTAGTGTCTAGCTCAATAGAAGATAGCTAGAGTCGCACATTTGCTGCTTCTTTCAATCTGTTACTATGTGTTTTTCTGGTTGAAATATGTGAAGAAAATCTGGCATCACACAGATATGT... | pathogenic | 111,618 |
Is the genetic change at chromosome 6, position 112068230, within gene CCN6 (cellular communication network factor 6) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Progressive_pseudorheumatoid_dysplasia'] | GAATTTGCATTTACTATACATGTTCAGTTGACAGCATGACACTGTTAATGCTCTGAAATCTCTGAAATTATAAGCCATGTCCTTATTTTTTTTTTTCAAAATGTACAGAACAGTTGGTTTTCTGCATTGGATTTTAGTCATTCAGTATAAGGCTCTTAGAACCCACACATAAACTTCCCTGGGAAGACTACCTTAGAGCAGTTTTCCACAAGTGAAGCCCTTTGGATCAAGTTCAAGTTGGTCTCATTTTAGAAGTTAGAGCAGTTCAGTGGATTCACTTTGACCTTGGTTGGGAGAGGCATCAGATAGTCAGTCTTAGT... | GAATTTGCATTTACTATACATGTTCAGTTGACAGCATGACACTGTTAATGCTCTGAAATCTCTGAAATTATAAGCCATGTCCTTATTTTTTTTTTTCAAAATGTACAGAACAGTTGGTTTTCTGCATTGGATTTTAGTCATTCAGTATAAGGCTCTTAGAACCCACACATAAACTTCCCTGGGAAGACTACCTTAGAGCAGTTTTCCACAAGTGAAGCCCTTTGGATCAAGTTCAAGTTGGTCTCATTTTAGAAGTTAGAGCAGTTCAGTGGATTCACTTTGACCTTGGTTGGGAGAGGCATCAGATAGTCAGTCTTAGT... | pathogenic | 111,620 |
Is the chromosome 6, position 112068321 variant in CCN6 (cellular communication network factor 6) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Progressive_pseudorheumatoid_dysplasia'] | TTTTTCAAAATGTACAGAACAGTTGGTTTTCTGCATTGGATTTTAGTCATTCAGTATAAGGCTCTTAGAACCCACACATAAACTTCCCTGGGAAGACTACCTTAGAGCAGTTTTCCACAAGTGAAGCCCTTTGGATCAAGTTCAAGTTGGTCTCATTTTAGAAGTTAGAGCAGTTCAGTGGATTCACTTTGACCTTGGTTGGGAGAGGCATCAGATAGTCAGTCTTAGTAGTTAGTGTTTTGTCAGGTAAAACAAGAAAATCTCCTGAAGTGTTCTCTGGTATTTATGATTTAGACCTAGGTGTGTTTCAAATGAAGTAT... | TTTTTCAAAATGTACAGAACAGTTGGTTTTCTGCATTGGATTTTAGTCATTCAGTATAAGGCTCTTAGAACCCACACATAAACTTCCCTGGGAAGACTACCTTAGAGCAGTTTTCCACAAGTGAAGCCCTTTGGATCAAGTTCAAGTTGGTCTCATTTTAGAAGTTAGAGCAGTTCAGTGGATTCACTTTGACCTTGGTTGGGAGAGGCATCAGATAGTCAGTCTTAGTAGTTAGTGTTTTGTCAGGTAAAACAAGAAAATCTCCTGAAGTGTTCTCTGGTATTTATGATTTAGACCTAGGTGTGTTTCAAATGAAGTAT... | pathogenic | 111,622 |
Considering the variant on chromosome 6, location 112068351, involving gene CCN6 (cellular communication network factor 6), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Progressive_pseudorheumatoid_dysplasia'] | CTGCATTGGATTTTAGTCATTCAGTATAAGGCTCTTAGAACCCACACATAAACTTCCCTGGGAAGACTACCTTAGAGCAGTTTTCCACAAGTGAAGCCCTTTGGATCAAGTTCAAGTTGGTCTCATTTTAGAAGTTAGAGCAGTTCAGTGGATTCACTTTGACCTTGGTTGGGAGAGGCATCAGATAGTCAGTCTTAGTAGTTAGTGTTTTGTCAGGTAAAACAAGAAAATCTCCTGAAGTGTTCTCTGGTATTTATGATTTAGACCTAGGTGTGTTTCAAATGAAGTATACGTTCAGTCTAATGTCTCTTCTTTGCTTA... | CTGCATTGGATTTTAGTCATTCAGTATAAGGCTCTTAGAACCCACACATAAACTTCCCTGGGAAGACTACCTTAGAGCAGTTTTCCACAAGTGAAGCCCTTTGGATCAAGTTCAAGTTGGTCTCATTTTAGAAGTTAGAGCAGTTCAGTGGATTCACTTTGACCTTGGTTGGGAGAGGCATCAGATAGTCAGTCTTAGTAGTTAGTGTTTTGTCAGGTAAAACAAGAAAATCTCCTGAAGTGTTCTCTGGTATTTATGATTTAGACCTAGGTGTGTTTCAAATGAAGTATACGTTCAGTCTAATGTCTCTTCTTTGCTTA... | pathogenic | 111,623 |
Does the chromosome 6 mutation at position 112069416 within gene CCN6 (cellular communication network factor 6) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['CCN6-related_disorder', 'Progressive_pseudorheumatoid_dysplasia'] | TCATTTATAAGAAGAAGCTCCCAGTGACCTTACATGGAAATGGGAGCATTATTAGACCCTCTTATATTCTCTCTTCCCCTCCTATTTCTCCTTAGCAGCACATTGGAAGGGCTCTATCTACTCACTCACTGACCCATCTATTGATCCATCCATTCTGTTTTTTCATATGTAATTCGAAATCTTAGCCAATTGGAGAGTACTTTGGGCCTAAGAACATAGGGAGTGTGACAATTAAGTTGAATGAATGAAATTATACGCTTGCAATGACTTTCTATATAAATGATTAGTTTAGTTCAGTGTAGTATTAATTAGACAGTTTT... | TCATTTATAAGAAGAAGCTCCCAGTGACCTTACATGGAAATGGGAGCATTATTAGACCCTCTTATATTCTCTCTTCCCCTCCTATTTCTCCTTAGCAGCACATTGGAAGGGCTCTATCTACTCACTCACTGACCCATCTATTGATCCATCCATTCTGTTTTTTCATATGTAATTCGAAATCTTAGCCAATTGGAGAGTACTTTGGGCCTAAGAACATAGGGAGTGTGACAATTAAGTTGAATGAATGAAATTATACGCTTGCAATGACTTTCTATATAAATGATTAGTTTAGTTCAGTGTAGTATTAATTAGACAGTTTT... | pathogenic | 111,627 |
Chromosome 6, position 112069420, gene CCN6 (cellular communication network factor 6): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Progressive_pseudorheumatoid_dysplasia'] | TTATAAGAAGAAGCTCCCAGTGACCTTACATGGAAATGGGAGCATTATTAGACCCTCTTATATTCTCTCTTCCCCTCCTATTTCTCCTTAGCAGCACATTGGAAGGGCTCTATCTACTCACTCACTGACCCATCTATTGATCCATCCATTCTGTTTTTTCATATGTAATTCGAAATCTTAGCCAATTGGAGAGTACTTTGGGCCTAAGAACATAGGGAGTGTGACAATTAAGTTGAATGAATGAAATTATACGCTTGCAATGACTTTCTATATAAATGATTAGTTTAGTTCAGTGTAGTATTAATTAGACAGTTTTCTAA... | TTATAAGAAGAAGCTCCCAGTGACCTTACATGGAAATGGGAGCATTATTAGACCCTCTTATATTCTCTCTTCCCCTCCTATTTCTCCTTAGCAGCACATTGGAAGGGCTCTATCTACTCACTCACTGACCCATCTATTGATCCATCCATTCTGTTTTTTCATATGTAATTCGAAATCTTAGCCAATTGGAGAGTACTTTGGGCCTAAGAACATAGGGAGTGTGACAATTAAGTTGAATGAATGAAATTATACGCTTGCAATGACTTTCTATATAAATGATTAGTTTAGTTCAGTGTAGTATTAATTAGACAGTTTTCTAA... | pathogenic | 111,628 |
Is the variant located on chromosome 6 at position 112117709, gene LAMA4 (laminin subunit alpha 4), benign or pathogenic? If pathogenic, specify the disease(s) linked. | benign | GACTCTTTGTTTTAACCAAATCAACTTTCAACATAGGAAGCTGAATCCAAATATTGCCCACATTTACATTTCATGTTATAGCTTTCCTATATTTCTTTTCAGTTAGGAAAGATTGATGAAATAATTCTGTGAAATAAATCTGCTTCAGATCTAGAATCCAAGGTCAGATGAGACAAATTGTTAAACATTTTTCAGACACTACCTGTCCATTTTTCATGTGAACATTTAGGTACTCCCCATTGACACTGTGGCCGTGGACCAGGGTTCCGGAACTGCTTCTGGGACGGACTTCAAATGCAATTTCAAACTTCAATCCAATA... | GACTCTTTGTTTTAACCAAATCAACTTTCAACATAGGAAGCTGAATCCAAATATTGCCCACATTTACATTTCATGTTATAGCTTTCCTATATTTCTTTTCAGTTAGGAAAGATTGATGAAATAATTCTGTGAAATAAATCTGCTTCAGATCTAGAATCCAAGGTCAGATGAGACAAATTGTTAAACATTTTTCAGACACTACCTGTCCATTTTTCATGTGAACATTTAGGTACTCCCCATTGACACTGTGGCCGTGGACCAGGGTTCCGGAACTGCTTCTGGGACGGACTTCAAATGCAATTTCAAACTTCAATCCAATA... | benign | 111,654 |
Does the chromosome 6 mutation at position 112158886 within gene LAMA4 (laminin subunit alpha 4) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | benign | TGGCTACTTCCCTCTCTGTTAACCAAGTCTATAATCATTCTACCCCCTCTACAAAAGGGCTGACTCATCCATTAGGCACAGCGTTTTCATTTTTTTTTCAATCAGAAGGAAAAAATGAGGATAACAATAATAATGGTATTAATCTTTATACCAATGCAGACATGAAATAAAGGTTTTACTTTTTCTATGGAGAAAGGAACCCACCAAGGCAAAAGTGTCTAGGGCCTATAGAAGTCATGGGGCTCTGCTCTACAGAGGGGAGTCTAATCTAAATACTCACTACCTGTTCCTCCCCACAACCCCTTCTGAGAAAATGGCCT... | TGGCTACTTCCCTCTCTGTTAACCAAGTCTATAATCATTCTACCCCCTCTACAAAAGGGCTGACTCATCCATTAGGCACAGCGTTTTCATTTTTTTTTCAATCAGAAGGAAAAAATGAGGATAACAATAATAATGGTATTAATCTTTATACCAATGCAGACATGAAATAAAGGTTTTACTTTTTCTATGGAGAAAGGAACCCACCAAGGCAAAAGTGTCTAGGGCCTATAGAAGTCATGGGGCTCTGCTCTACAGAGGGGAGTCTAATCTAAATACTCACTACCTGTTCCTCCCCACAACCCCTTCTGAGAAAATGGCCT... | benign | 111,786 |
Does the variant impacting LAMA4 (laminin subunit alpha 4) on chromosome 6, position 112185228, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | benign | AAGCCAAATATTAGTTACTTTCTTGATAGAAGGCTTTCTAAGACACAGCTTTCCTTAAATCTAAGAATCAGTCATGGACTTTTCTAGAGCAAGGGCTTGAAGAATGCTTAAAAAGTCATTAAGACCAGCCCTGGGCATTTGTTTTGAAATGTTTCAGCAGGTTTTTGCACCATCAGGACTGTGGTCAGAACATTATATTCAATAAAAATAGATGGAAACAGCTGGGTGAAAGTTCCTAGTAGCTTTATCATCAACCTCCTGTGTTGGTGGTCTGCCCTTCTTGTCCGGGAGCCTTTTCTACTGTGATGTTAACTTTCAAG... | AAGCCAAATATTAGTTACTTTCTTGATAGAAGGCTTTCTAAGACACAGCTTTCCTTAAATCTAAGAATCAGTCATGGACTTTTCTAGAGCAAGGGCTTGAAGAATGCTTAAAAAGTCATTAAGACCAGCCCTGGGCATTTGTTTTGAAATGTTTCAGCAGGTTTTTGCACCATCAGGACTGTGGTCAGAACATTATATTCAATAAAAATAGATGGAAACAGCTGGGTGAAAGTTCCTAGTAGCTTTATCATCAACCTCCTGTGTTGGTGGTCTGCCCTTCTTGTCCGGGAGCCTTTTCTACTGTGATGTTAACTTTCAAG... | benign | 111,822 |
Determine whether the variant at chromosome 6, position 116120066, in gene COL10A1 is benign or pathogenic. If pathogenic, identify the relevant disease(s). | benign | GTAGGTACTTTGCTGTGTATCTTACTTAGGATTTAATTTAAGCTTAAATATTATTATAAAGTTGGTTCTGACTACATTTTCAGAAGTCCTTTTATTTGTGCTTCTTTCATGGCTATAATTGCCCATATTCCAAGCTGTGCTGTTACACTCTCCTTTACCACGCCTGCCACGAGGGTCATTCTGTGAGTTCCCTAGAATTGAAGTCCAGTTTTGCTTTTTCATGGCCTGGGCATAAGGGTTGGTGACTTGTAACCATTAGTGTAGTAGTTATAGACAGGTGGGCAAAATGTCTGCCGGCAGAAATTTTGTTCTTGTTGCTT... | GTAGGTACTTTGCTGTGTATCTTACTTAGGATTTAATTTAAGCTTAAATATTATTATAAAGTTGGTTCTGACTACATTTTCAGAAGTCCTTTTATTTGTGCTTCTTTCATGGCTATAATTGCCCATATTCCAAGCTGTGCTGTTACACTCTCCTTTACCACGCCTGCCACGAGGGTCATTCTGTGAGTTCCCTAGAATTGAAGTCCAGTTTTGCTTTTTCATGGCCTGGGCATAAGGGTTGGTGACTTGTAACCATTAGTGTAGTAGTTATAGACAGGTGGGCAAAATGTCTGCCGGCAGAAATTTTGTTCTTGTTGCTT... | benign | 111,900 |
Mutation at chromosome 6, position 116120292, within COL10A1: benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic | TGGGCATAAGGGTTGGTGACTTGTAACCATTAGTGTAGTAGTTATAGACAGGTGGGCAAAATGTCTGCCGGCAGAAATTTTGTTCTTGTTGCTTAAGGAACAAAACTGGCTGACCCAGAGTGAGGGCAGAGATATCACCAATCTTGAGCCCAGAGTTTTACCTTTCCAATCACAGCTTTGCTTGGATTACACAAGATTGCTTCTAAGGAATAAATAGATGCCTTTATAGTATGTTACCTCAGTGACTTGAGCCACATTGTCCTGATTAAACTAATAGGATGATGGATTCTTAAGAGTAGTATTTTTCAGCTTGGAAAAAA... | TGGGCATAAGGGTTGGTGACTTGTAACCATTAGTGTAGTAGTTATAGACAGGTGGGCAAAATGTCTGCCGGCAGAAATTTTGTTCTTGTTGCTTAAGGAACAAAACTGGCTGACCCAGAGTGAGGGCAGAGATATCACCAATCTTGAGCCCAGAGTTTTACCTTTCCAATCACAGCTTTGCTTGGATTACACAAGATTGCTTCTAAGGAATAAATAGATGCCTTTATAGTATGTTACCTCAGTGACTTGAGCCACATTGTCCTGATTAAACTAATAGGATGATGGATTCTTAAGAGTAGTATTTTTCAGCTTGGAAAAAA... | pathogenic | 111,906 |
Chromosome 6, position 116120340, gene COL10A1: benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Metaphyseal_chondrodysplasia,_Schmid_type'] | CAGGTGGGCAAAATGTCTGCCGGCAGAAATTTTGTTCTTGTTGCTTAAGGAACAAAACTGGCTGACCCAGAGTGAGGGCAGAGATATCACCAATCTTGAGCCCAGAGTTTTACCTTTCCAATCACAGCTTTGCTTGGATTACACAAGATTGCTTCTAAGGAATAAATAGATGCCTTTATAGTATGTTACCTCAGTGACTTGAGCCACATTGTCCTGATTAAACTAATAGGATGATGGATTCTTAAGAGTAGTATTTTTCAGCTTGGAAAAAATGTTGCCTTGTGATTGACAAAAAAATTGCTTGCCTTTTTAAAATGTAA... | CAGGTGGGCAAAATGTCTGCCGGCAGAAATTTTGTTCTTGTTGCTTAAGGAACAAAACTGGCTGACCCAGAGTGAGGGCAGAGATATCACCAATCTTGAGCCCAGAGTTTTACCTTTCCAATCACAGCTTTGCTTGGATTACACAAGATTGCTTCTAAGGAATAAATAGATGCCTTTATAGTATGTTACCTCAGTGACTTGAGCCACATTGTCCTGATTAAACTAATAGGATGATGGATTCTTAAGAGTAGTATTTTTCAGCTTGGAAAAAATGTTGCCTTGTGATTGACAAAAAAATTGCTTGCCTTTTTAAAATGTAA... | pathogenic | 111,910 |
Evaluate if the mutation on chromosome 6 at position 116279302 in TSPYL1 is benign or pathogenic. Disease name(s) if pathogenic? | benign | CTTGTCTAGGCAACATATTTAACACTTTAACCCCTTCAATTCTCCCTGAAAAGTATTTTTCCATTCATCATCATTGGGGAGTAAGTACTCCTTCCTCGAAAGCTCTTAACGACAGCACAGTCTTCACTCTAGGCCCAATTTTTACCTGGCCCATGCCTCTAGCCTTTTGTTCAGTTTCTCCTGCTTAGGGCACCTTTCATCCCATCTAGATGTGTCTCTCTTTAACTATTCTAGGAGTTGATAAAAGGGCTAGGAAGTAGGAAGTTGGGAAGAAGGGGAGGGGCGTAAGAGCTCTAGCACTCTATTTTACAGGCCAACTT... | CTTGTCTAGGCAACATATTTAACACTTTAACCCCTTCAATTCTCCCTGAAAAGTATTTTTCCATTCATCATCATTGGGGAGTAAGTACTCCTTCCTCGAAAGCTCTTAACGACAGCACAGTCTTCACTCTAGGCCCAATTTTTACCTGGCCCATGCCTCTAGCCTTTTGTTCAGTTTCTCCTGCTTAGGGCACCTTTCATCCCATCTAGATGTGTCTCTCTTTAACTATTCTAGGAGTTGATAAAAGGGCTAGGAAGTAGGAAGTTGGGAAGAAGGGGAGGGGCGTAAGAGCTCTAGCACTCTATTTTACAGGCCAACTT... | benign | 111,937 |
A genetic variant on chromosome 6, position 116437084, affects the gene DSE (dermatan sulfate epimerase). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | benign | GATGTGGTGTTGGTGATACATTTTATCTAATATGTGAAGTTCTCCTCTATTTCAGTTTATTTTTTCAAGGAAAAAAATCTTGAGGGAGAACTCTTTTCAATACCAAACATTCAATAATATCAGTTACTGCAGAACTATACTTTATTACAACTCAAGGCTTGTTAGAGTCCAGATTCTAACATGGCATTTCTAGAAGAGGAGCCCCTCAACCAGAAATTTGGATGAAGTGCTTAAATCCATGAGGCCCAGTAGTTTGAATGGTCACTCTGACATCATCAAGTGAAGATAGTCCATGTAGAGATTAGAGCAGAAATCATTTC... | GATGTGGTGTTGGTGATACATTTTATCTAATATGTGAAGTTCTCCTCTATTTCAGTTTATTTTTTCAAGGAAAAAAATCTTGAGGGAGAACTCTTTTCAATACCAAACATTCAATAATATCAGTTACTGCAGAACTATACTTTATTACAACTCAAGGCTTGTTAGAGTCCAGATTCTAACATGGCATTTCTAGAAGAGGAGCCCCTCAACCAGAAATTTGGATGAAGTGCTTAAATCCATGAGGCCCAGTAGTTTGAATGGTCACTCTGACATCATCAAGTGAAGATAGTCCATGTAGAGATTAGAGCAGAAATCATTTC... | benign | 111,983 |
Mutation at chromosome 6, position 116623001, within RSPH4A (radial spoke head component 4A): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Kartagener_syndrome', 'Primary_ciliary_dyskinesia', 'Primary_ciliary_dyskinesia_11', 'RSPH4A-related_disorder'] | GGTTCAAGTGATTCTCCTGACTCAGCCTCCCGAGTAGCTAGAATTACAGGTGCCTGCCACCACACCTGACTAATTTTTGTTTTTTTAATAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGGTCCGCCCACCTCAGGCTCCCAGAGTGCCGGGATTACAGGCAGCCACTGCTCCCGGCCTTCTCCATGAATTCCAACAGTGCATGAATATTAAGGAAGCTTGATGAAGTTTTAAAGAAACTCCTAGTCAAAACATTTCTGTTCATTTACAAGAATTATTTGAGGAAGGAATTTTAT... | GGTTCAAGTGATTCTCCTGACTCAGCCTCCCGAGTAGCTAGAATTACAGGTGCCTGCCACCACACCTGACTAATTTTTGTTTTTTTAATAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGGTCCGCCCACCTCAGGCTCCCAGAGTGCCGGGATTACAGGCAGCCACTGCTCCCGGCCTTCTCCATGAATTCCAACAGTGCATGAATATTAAGGAAGCTTGATGAAGTTTTAAAGAAACTCCTAGTCAAAACATTTCTGTTCATTTACAAGAATTATTTGAGGAAGGAATTTTAT... | pathogenic | 112,000 |
Does the variant impacting RSPH4A (radial spoke head component 4A) on chromosome 6, position 116627715, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Neurodevelopmental_delay', 'Primary_ciliary_dyskinesia'] | TGCCAACAAATTTTTATGTGCTAGAATCAATAGGAATCTAACTACTTAAATATTGAAGATCAAGGGAGTCAGAGGAAGCAAGGATGACCGAACTTTCTGGTGTGAGAAACTGAGATGTCACTGGCGAAGAAAGAGTACATAGAAAAAAGAGAAAACTTTGAGATGTGAATTAAATATTAAACTGAGGTATCTTTAGAATACTCAAGTGAAATTTCTCAGAAGTGGCTAGAAATATGTGTAGAATATGGGAGAAAAGTCAGAGTTAGAGAAACTTTAAACAGCCACTTATCACTTGAAGTGGTGTGGAGAACTCTTCCAAG... | TGCCAACAAATTTTTATGTGCTAGAATCAATAGGAATCTAACTACTTAAATATTGAAGATCAAGGGAGTCAGAGGAAGCAAGGATGACCGAACTTTCTGGTGTGAGAAACTGAGATGTCACTGGCGAAGAAAGAGTACATAGAAAAAAGAGAAAACTTTGAGATGTGAATTAAATATTAAACTGAGGTATCTTTAGAATACTCAAGTGAAATTTCTCAGAAGTGGCTAGAAATATGTGTAGAATATGGGAGAAAAGTCAGAGTTAGAGAAACTTTAAACAGCCACTTATCACTTGAAGTGGTGTGGAGAACTCTTCCAAG... | pathogenic | 112,002 |
A genetic variant at chromosome 6, position 116628196, affecting gene RSPH4A (radial spoke head component 4A)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Primary_ciliary_dyskinesia'] | CTTTTGCAATCCTACATCAAGGCGATGAGGATTTTCAAAAGTCGTTATACTTATTTTGACACTACAATTATAAGAGCATATCATTTGTAAGAACAGCAGAGCTCTCAAGTTTTTCATCTTGAGGGTCAAGGTTTCTCTTGCAAGTTATCTTGACCTGTAGTTGAAGTTCTTTCCTACTTTTTCACAAATGTGTTTCTTTTTTTCTTTTTCTTTTTCTTTTTTTTGAGACCGTCACCCAGGCTGTAGTGCAGTGGCGCGATCTCGGCTCACTACAAGCTCCACCTCCTGGGATCACGCCATTCTCCTGCCTCAGCCTCCCG... | CTTTTGCAATCCTACATCAAGGCGATGAGGATTTTCAAAAGTCGTTATACTTATTTTGACACTACAATTATAAGAGCATATCATTTGTAAGAACAGCAGAGCTCTCAAGTTTTTCATCTTGAGGGTCAAGGTTTCTCTTGCAAGTTATCTTGACCTGTAGTTGAAGTTCTTTCCTACTTTTTCACAAATGTGTTTCTTTTTTTCTTTTTCTTTTTCTTTTTTTTGAGACCGTCACCCAGGCTGTAGTGCAGTGGCGCGATCTCGGCTCACTACAAGCTCCACCTCCTGGGATCACGCCATTCTCCTGCCTCAGCCTCCCG... | pathogenic | 112,011 |
Is the chromosome 6, position 116628367 variant in RSPH4A (radial spoke head component 4A) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Primary_ciliary_dyskinesia', 'Primary_ciliary_dyskinesia_11'] | TCCTACTTTTTCACAAATGTGTTTCTTTTTTTCTTTTTCTTTTTCTTTTTTTTGAGACCGTCACCCAGGCTGTAGTGCAGTGGCGCGATCTCGGCTCACTACAAGCTCCACCTCCTGGGATCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCTCCCCACCACACCCGGCTGACTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTACTGACCTTGTGATCCACCTGGCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCCAG... | TCCTACTTTTTCACAAATGTGTTTCTTTTTTTCTTTTTCTTTTTCTTTTTTTTGAGACCGTCACCCAGGCTGTAGTGCAGTGGCGCGATCTCGGCTCACTACAAGCTCCACCTCCTGGGATCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCTCCCCACCACACCCGGCTGACTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTACTGACCTTGTGATCCACCTGGCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCCAG... | pathogenic | 112,015 |
Clinical classification of chromosome 6, position 116629593, gene RSPH4A (radial spoke head component 4A): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Primary_ciliary_dyskinesia'] | AGAATATCGAGATACATGAAAAAGACAAGGGAAGCAAGCATTTGTCTTATTGATAAATTTTAACCACAGCATTTGTTTCCCCAGGCAGAAAACGCTCTTCCAAATGTAATGGAGTCAGCTTTTTATTTTGAACAAGCTGGAGTTGGTTTGGGCACAGATGAGACATACCGCATATTTCTTGCCCTCAAGCAGCTTACTGATACCCACCCAATCCAAAGATGCCGCTTCTGGGGAAAGATCTTGGGTCTGGAAATGAATTATATTGTAGCTGAAGTGGAATTTCGTGAGGGGGAAGATGAAGAGGAAGTGGAAGAGGAAGA... | AGAATATCGAGATACATGAAAAAGACAAGGGAAGCAAGCATTTGTCTTATTGATAAATTTTAACCACAGCATTTGTTTCCCCAGGCAGAAAACGCTCTTCCAAATGTAATGGAGTCAGCTTTTTATTTTGAACAAGCTGGAGTTGGTTTGGGCACAGATGAGACATACCGCATATTTCTTGCCCTCAAGCAGCTTACTGATACCCACCCAATCCAAAGATGCCGCTTCTGGGGAAAGATCTTGGGTCTGGAAATGAATTATATTGTAGCTGAAGTGGAATTTCGTGAGGGGGAAGATGAAGAGGAAGTGGAAGAGGAAGA... | pathogenic | 112,017 |
The chromosome 6, position 116629675 genetic variant in gene RSPH4A (radial spoke head component 4A): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Primary_ciliary_dyskinesia', 'Primary_ciliary_dyskinesia_11'] | AGGCAGAAAACGCTCTTCCAAATGTAATGGAGTCAGCTTTTTATTTTGAACAAGCTGGAGTTGGTTTGGGCACAGATGAGACATACCGCATATTTCTTGCCCTCAAGCAGCTTACTGATACCCACCCAATCCAAAGATGCCGCTTCTGGGGAAAGATCTTGGGTCTGGAAATGAATTATATTGTAGCTGAAGTGGAATTTCGTGAGGGGGAAGATGAAGAGGAAGTGGAAGAGGAAGATGTAGCTGAAGAGAGGGACAATGGAGAAAGTGAAGCTCATGAAGATGAGGAAGATGAATTACCAAAGTCCTTTTACAAGGCC... | AGGCAGAAAACGCTCTTCCAAATGTAATGGAGTCAGCTTTTTATTTTGAACAAGCTGGAGTTGGTTTGGGCACAGATGAGACATACCGCATATTTCTTGCCCTCAAGCAGCTTACTGATACCCACCCAATCCAAAGATGCCGCTTCTGGGGAAAGATCTTGGGTCTGGAAATGAATTATATTGTAGCTGAAGTGGAATTTCGTGAGGGGGAAGATGAAGAGGAAGTGGAAGAGGAAGATGTAGCTGAAGAGAGGGACAATGGAGAAAGTGAAGCTCATGAAGATGAGGAAGATGAATTACCAAAGTCCTTTTACAAGGCC... | pathogenic | 112,021 |
Located at chromosome 6 position 116792599, the variant affecting gene GPRC6A (G protein-coupled receptor class C group 6 member A)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | benign | GGAAGAGTTAGATCAGAAATGTAATTAAGATTCAAGGGAGATAAACACTTAAAAATAATTATCAAATTTGAGAGATAAAGAGTAACAGGTAAACTTTCCGTGAACTATTTCATCAGAGGTGAACTAGAAGCCAGATTTTAAATGAACTGAGAACTAATAGGTCACAAGTCAAAAATGACAATCTTCCTCTAAGCAGTCTATTGTGAGATGGAGGAAGAAAGAGGGTGACAGCTAAGGAAAAAGTAAAGATTTGGCACAGTGTTATTTTGTATATTTATGTTTTATACAGATGGGAGCAATGTGAACATGGCATCCAAATC... | GGAAGAGTTAGATCAGAAATGTAATTAAGATTCAAGGGAGATAAACACTTAAAAATAATTATCAAATTTGAGAGATAAAGAGTAACAGGTAAACTTTCCGTGAACTATTTCATCAGAGGTGAACTAGAAGCCAGATTTTAAATGAACTGAGAACTAATAGGTCACAAGTCAAAAATGACAATCTTCCTCTAAGCAGTCTATTGTGAGATGGAGGAAGAAAGAGGGTGACAGCTAAGGAAAAAGTAAAGATTTGGCACAGTGTTATTTTGTATATTTATGTTTTATACAGATGGGAGCAATGTGAACATGGCATCCAAATC... | benign | 112,031 |
Considering the variant on chromosome 6, location 117675789, involving gene NUS1 (NUS1 dehydrodolichyl diphosphate synthase subunit), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Intellectual_disability,_autosomal_dominant_55,_with_seizures'] | AGAAGATAGAGCCTGTTTGTGCCTGCACACCTGAGAGCAGGCCACGGGAACATGAGATTGATGTCTTTAATCTTGTCAGAACGGATAGACATTGGGGCAAAGAAATGAGTACGGTAGAGAAATGTGGCAACATAGTCGGCATGGGGGGTGGGGTGGGGTCTGCAGAATACGTGGCCAAATCTCAATGGGACACTGGTGTCTAGGGAGCTTCCTTAACAAGCATCATGTAGCTGCATAAACTACAGCAATGGGCAGTGAGGAAGAAGACTGTAGGCTTCCCTGATCATGGCCTTTCGCCTCTCCTTCTTTGTCCATCATCA... | AGAAGATAGAGCCTGTTTGTGCCTGCACACCTGAGAGCAGGCCACGGGAACATGAGATTGATGTCTTTAATCTTGTCAGAACGGATAGACATTGGGGCAAAGAAATGAGTACGGTAGAGAAATGTGGCAACATAGTCGGCATGGGGGGTGGGGTGGGGTCTGCAGAATACGTGGCCAAATCTCAATGGGACACTGGTGTCTAGGGAGCTTCCTTAACAAGCATCATGTAGCTGCATAAACTACAGCAATGGGCAGTGAGGAAGAAGACTGTAGGCTTCCCTGATCATGGCCTTTCGCCTCTCCTTCTTTGTCCATCATCA... | pathogenic | 112,066 |
Assess the variant on chromosome 6, position 118558956, impacting PLN: is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Arrhythmogenic_right_ventricular_dysplasia_9', 'Cardiomyopathy', 'Cardiovascular_phenotype', 'Dilated_cardiomyopathy_1P', 'Hypertrophic_cardiomyopathy_18', 'Primary_dilated_cardiomyopathy', 'SUDDEN_INFANT_DEATH_SYNDROME'] | ACATGTAAATTCTTATTTTATTAATCATCAAAGTATAGGCCCCACAGGCAGCAATAGCTTGTGGGATCTCTGAAAGAAGGCATGATGGAAACTACTACTATTAAGTAGAAGTCTGTAAATAGGATATGTCTGTGGTAGTGAGATAATAATAATTACTATGTGTTCCAAGCTTGACAGTCTTCAGTACTTAACATCAAATCTTATTAAAATGTTACTTAAGATAACATTCTATAAAACTATAAAATCATAAAAAGGAATAACAATTTGAATCTATATTTTTGGTAAAACACTTCCCATTTAACACTATTTTATTTTAGATT... | ACATGTAAATTCTTATTTTATTAATCATCAAAGTATAGGCCCCACAGGCAGCAATAGCTTGTGGGATCTCTGAAAGAAGGCATGATGGAAACTACTACTATTAAGTAGAAGTCTGTAAATAGGATATGTCTGTGGTAGTGAGATAATAATAATTACTATGTGTTCCAAGCTTGACAGTCTTCAGTACTTAACATCAAATCTTATTAAAATGTTACTTAAGATAACATTCTATAAAACTATAAAATCATAAAAAGGAATAACAATTTGAATCTATATTTTTGGTAAAACACTTCCCATTTAACACTATTTTATTTTAGATT... | pathogenic | 112,082 |
Chromosome 6, position 121447998, gene GJA1 (gap junction protein alpha 1): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | benign | TAAATGACAATAATATAGGGTATGCACAAATTACACTTGATATACCATTGAAAAATCTTCCAGAGGCCAGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGTAGATGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGAGCAACATGGAGAAACCTCATCTCTACTAAAAATACAAAATTAGCCAGGCGTGATGGCACATGCCTGTAATCCCAGCTACTTAGGAGGCTGAGGCAGGAGAATCGCTGGAACCTAAGAGGCGGAAGTTGTGGTGAGCTGAGATTGTGCCATTGCACTCCAGCCT... | TAAATGACAATAATATAGGGTATGCACAAATTACACTTGATATACCATTGAAAAATCTTCCAGAGGCCAGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGTAGATGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGAGCAACATGGAGAAACCTCATCTCTACTAAAAATACAAAATTAGCCAGGCGTGATGGCACATGCCTGTAATCCCAGCTACTTAGGAGGCTGAGGCAGGAGAATCGCTGGAACCTAAGAGGCGGAAGTTGTGGTGAGCTGAGATTGTGCCATTGCACTCCAGCCT... | benign | 112,128 |
Is the variant located on chromosome 6 at position 123260642, gene TRDN (triadin), benign or pathogenic? If pathogenic, specify the disease(s) linked. | benign | TTCTTTTTTTTGTTATGTCTCTGCCAGGTTTTGGTGTAAGGTTGACGCTGGCCTCACAAAATGAGTTAGGGAGGATTCCCTCTTTTTGTATTGTTTGGAGTCATTTTAGAAGGAATGGTACCAGCTCCTCTTTGTACCTCTGGTAGAATTCGTCTGTGAATCCGTCTGGTCCTGGGCTTTTGTTTTGGTTGGCAGGCTATTAATTACTGCCTCAATTCCAGAACTTGTTATTGGTCTAGTCAGGGATTCAACTTCTTCTGGTTCAGTCTTGGGAGGGTGTGTGTATCCAGAAATTTATCCATTTCTTCTAGATTTTCTAG... | TTCTTTTTTTTGTTATGTCTCTGCCAGGTTTTGGTGTAAGGTTGACGCTGGCCTCACAAAATGAGTTAGGGAGGATTCCCTCTTTTTGTATTGTTTGGAGTCATTTTAGAAGGAATGGTACCAGCTCCTCTTTGTACCTCTGGTAGAATTCGTCTGTGAATCCGTCTGGTCCTGGGCTTTTGTTTTGGTTGGCAGGCTATTAATTACTGCCTCAATTCCAGAACTTGTTATTGGTCTAGTCAGGGATTCAACTTCTTCTGGTTCAGTCTTGGGAGGGTGTGTGTATCCAGAAATTTATCCATTTCTTCTAGATTTTCTAG... | benign | 112,147 |
Mutation at chromosome 6, position 123260644, within TRDN (triadin): benign or pathogenic? If pathogenic, indicate the disease(s). | benign | CTTTTTTTTGTTATGTCTCTGCCAGGTTTTGGTGTAAGGTTGACGCTGGCCTCACAAAATGAGTTAGGGAGGATTCCCTCTTTTTGTATTGTTTGGAGTCATTTTAGAAGGAATGGTACCAGCTCCTCTTTGTACCTCTGGTAGAATTCGTCTGTGAATCCGTCTGGTCCTGGGCTTTTGTTTTGGTTGGCAGGCTATTAATTACTGCCTCAATTCCAGAACTTGTTATTGGTCTAGTCAGGGATTCAACTTCTTCTGGTTCAGTCTTGGGAGGGTGTGTGTATCCAGAAATTTATCCATTTCTTCTAGATTTTCTAGTT... | CTTTTTTTTGTTATGTCTCTGCCAGGTTTTGGTGTAAGGTTGACGCTGGCCTCACAAAATGAGTTAGGGAGGATTCCCTCTTTTTGTATTGTTTGGAGTCATTTTAGAAGGAATGGTACCAGCTCCTCTTTGTACCTCTGGTAGAATTCGTCTGTGAATCCGTCTGGTCCTGGGCTTTTGTTTTGGTTGGCAGGCTATTAATTACTGCCTCAATTCCAGAACTTGTTATTGGTCTAGTCAGGGATTCAACTTCTTCTGGTTCAGTCTTGGGAGGGTGTGTGTATCCAGAAATTTATCCATTTCTTCTAGATTTTCTAGTT... | benign | 112,149 |
Variant at chromosome 6, position 123273365, gene TRDN (triadin): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | benign | AAAAACATCTTCTATTCAAATTGGATGAAAGCACAAAGAAAATCTGTCCAGCTGAAATGTCCTTTGCAGCTATCTTGCTATAGAAGTTTTCCTAACTTAAATTGTTCCCTAACATGCCAATATGAGCCCTATTTTTTGCCTTCACTGTATTTCAGTGTATTTATCTGCCCAGAGGTACTGCTTTATAAAATATATGTTCCCTTACTATTATTAAATTAGAATAGGAAGGAGCAATTTTTTATCTTCTTGTACTGATACCTCCCTGGGAACCCAGGAATAGGTGGAGAACCCAAATTTCTTACAGTGTGAAGCTGGGGAAG... | AAAAACATCTTCTATTCAAATTGGATGAAAGCACAAAGAAAATCTGTCCAGCTGAAATGTCCTTTGCAGCTATCTTGCTATAGAAGTTTTCCTAACTTAAATTGTTCCCTAACATGCCAATATGAGCCCTATTTTTTGCCTTCACTGTATTTCAGTGTATTTATCTGCCCAGAGGTACTGCTTTATAAAATATATGTTCCCTTACTATTATTAAATTAGAATAGGAAGGAGCAATTTTTTATCTTCTTGTACTGATACCTCCCTGGGAACCCAGGAATAGGTGGAGAACCCAAATTTCTTACAGTGTGAAGCTGGGGAAG... | benign | 112,159 |
Does the variant on chromosome 6 at location 123464887 affecting gene TRDN have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | benign | AACGAAGTCATAGGCAGCACATCTGCAAGCCCTGACAAAGCCCATGATCTCAGCATTGCCTGATAATATAGACTCCCCGAGCTGCTCAGGGTTAGCAGCCTTCAAGCTTTCAGAGAAGACACTGACAAAGGCTTGTGATCCTCAAACCTTGTTATTTTATTCACCACAGCCTATTACTAGGTTCTGGGATGAACTGTCAAATTACATTGCTCTTTAAATAAAATAACAGGAGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGAGGGTGGATCACGAGGTCAGGAGATTGAGACCATCCTGGCTAACACGGTGA... | AACGAAGTCATAGGCAGCACATCTGCAAGCCCTGACAAAGCCCATGATCTCAGCATTGCCTGATAATATAGACTCCCCGAGCTGCTCAGGGTTAGCAGCCTTCAAGCTTTCAGAGAAGACACTGACAAAGGCTTGTGATCCTCAAACCTTGTTATTTTATTCACCACAGCCTATTACTAGGTTCTGGGATGAACTGTCAAATTACATTGCTCTTTAAATAAAATAACAGGAGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGAGGGTGGATCACGAGGTCAGGAGATTGAGACCATCCTGGCTAACACGGTGA... | benign | 112,203 |
Clinically, how would you classify the variant at chromosome 6, position 123512344, gene TRDN (triadin): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Catecholaminergic_polymorphic_ventricular_tachycardia_1', 'Catecholaminergic_polymorphic_ventricular_tachycardia_5'] | TACATTTAGTAGCTAAACTAAATCTTAAAAATGCTTCTGAGTTTTACCTAAATGGGTAGTTTCTTAAAAATACTGAATTGAGGCTTCTAGCTAATTGCCTAAAATGTATATTTTAAAAGATAAGGAAGAAATTTAAATGTAGGGAATAAGATTAAATTACCAAATAAAATCCATTTTTTCTAGTAATTGGCAGATAAATTTAATACAGAAAAACTTTGTTATTCAATATGCCAAAATATCTAATATTAAAGTGATATACTAATAAATATATTTGGCATATTATTATGGTACTTTCAGTTCTCAAACTTTTAAAGTAAAAA... | TACATTTAGTAGCTAAACTAAATCTTAAAAATGCTTCTGAGTTTTACCTAAATGGGTAGTTTCTTAAAAATACTGAATTGAGGCTTCTAGCTAATTGCCTAAAATGTATATTTTAAAAGATAAGGAAGAAATTTAAATGTAGGGAATAAGATTAAATTACCAAATAAAATCCATTTTTTCTAGTAATTGGCAGATAAATTTAATACAGAAAAACTTTGTTATTCAATATGCCAAAATATCTAATATTAAAGTGATATACTAATAAATATATTTGGCATATTATTATGGTACTTTCAGTTCTCAAACTTTTAAAGTAAAAA... | pathogenic | 112,223 |
Does the chromosome 6 mutation at position 123516157 within gene TRDN (triadin) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Cardiovascular_phenotype', 'Catecholaminergic_polymorphic_ventricular_tachycardia_1'] | AATCCCAGCACTTTGGGAGGCTGAGGTGAGCAGATCACTTGAGTTCAGGAGTATGAGACCAGCCTGGCCAACATGGCAAAAACCCATCTCTACTAAAAACACAAAAATTAGCTGGGTGTGGTGGCACATGTCTGTAGTTCTCATGCTGAGGCATGAGAATCTCTTGAACCCCAGAGGCAGAGGTTGCAGTGAGCCAAGATTGCACCACTGCACTTCAGTCTGGGTGGCAGAGTGAGACTCTGTCTCAAAACAAAAAAACAATCTTTTTTAAACTTGAGGAAAATATTGGTGGCTATTGAATTAATTCTTGAATGAAGATT... | AATCCCAGCACTTTGGGAGGCTGAGGTGAGCAGATCACTTGAGTTCAGGAGTATGAGACCAGCCTGGCCAACATGGCAAAAACCCATCTCTACTAAAAACACAAAAATTAGCTGGGTGTGGTGGCACATGTCTGTAGTTCTCATGCTGAGGCATGAGAATCTCTTGAACCCCAGAGGCAGAGGTTGCAGTGAGCCAAGATTGCACCACTGCACTTCAGTCTGGGTGGCAGAGTGAGACTCTGTCTCAAAACAAAAAAACAATCTTTTTTAAACTTGAGGAAAATATTGGTGGCTATTGAATTAATTCTTGAATGAAGATT... | pathogenic | 112,229 |
Does the variant on chromosome 6 at location 123516159 affecting gene TRDN (triadin) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Catecholaminergic_polymorphic_ventricular_tachycardia_1', 'Catecholaminergic_polymorphic_ventricular_tachycardia_5'] | TCCCAGCACTTTGGGAGGCTGAGGTGAGCAGATCACTTGAGTTCAGGAGTATGAGACCAGCCTGGCCAACATGGCAAAAACCCATCTCTACTAAAAACACAAAAATTAGCTGGGTGTGGTGGCACATGTCTGTAGTTCTCATGCTGAGGCATGAGAATCTCTTGAACCCCAGAGGCAGAGGTTGCAGTGAGCCAAGATTGCACCACTGCACTTCAGTCTGGGTGGCAGAGTGAGACTCTGTCTCAAAACAAAAAAACAATCTTTTTTAAACTTGAGGAAAATATTGGTGGCTATTGAATTAATTCTTGAATGAAGATTCA... | TCCCAGCACTTTGGGAGGCTGAGGTGAGCAGATCACTTGAGTTCAGGAGTATGAGACCAGCCTGGCCAACATGGCAAAAACCCATCTCTACTAAAAACACAAAAATTAGCTGGGTGTGGTGGCACATGTCTGTAGTTCTCATGCTGAGGCATGAGAATCTCTTGAACCCCAGAGGCAGAGGTTGCAGTGAGCCAAGATTGCACCACTGCACTTCAGTCTGGGTGGCAGAGTGAGACTCTGTCTCAAAACAAAAAAACAATCTTTTTTAAACTTGAGGAAAATATTGGTGGCTATTGAATTAATTCTTGAATGAAGATTCA... | pathogenic | 112,230 |
Variant in gene TRDN (triadin), located at chromosome 6 position 123516182: benign or pathogenic? What disease(s) does it cause if pathogenic? | benign | GTGAGCAGATCACTTGAGTTCAGGAGTATGAGACCAGCCTGGCCAACATGGCAAAAACCCATCTCTACTAAAAACACAAAAATTAGCTGGGTGTGGTGGCACATGTCTGTAGTTCTCATGCTGAGGCATGAGAATCTCTTGAACCCCAGAGGCAGAGGTTGCAGTGAGCCAAGATTGCACCACTGCACTTCAGTCTGGGTGGCAGAGTGAGACTCTGTCTCAAAACAAAAAAACAATCTTTTTTAAACTTGAGGAAAATATTGGTGGCTATTGAATTAATTCTTGAATGAAGATTCAAAGCCAGAAAGACCACAAGAAAA... | GTGAGCAGATCACTTGAGTTCAGGAGTATGAGACCAGCCTGGCCAACATGGCAAAAACCCATCTCTACTAAAAACACAAAAATTAGCTGGGTGTGGTGGCACATGTCTGTAGTTCTCATGCTGAGGCATGAGAATCTCTTGAACCCCAGAGGCAGAGGTTGCAGTGAGCCAAGATTGCACCACTGCACTTCAGTCTGGGTGGCAGAGTGAGACTCTGTCTCAAAACAAAAAAACAATCTTTTTTAAACTTGAGGAAAATATTGGTGGCTATTGAATTAATTCTTGAATGAAGATTCAAAGCCAGAAAGACCACAAGAAAA... | benign | 112,232 |
Regarding the variant found on chromosome 6 at position 123530498 in gene TRDN (triadin): is it benign or pathogenic? If pathogenic, identify the disease(s). | benign | TCCCACAAAACACACCAGCTTGAGCATAATGAATCTTTTTGGTCTCAGATATTTATTGACTCATTTATAATCATCACAGACTACTACTACCTTTCAAATACTGTATCTTTTCTTCTAAGGGTTCAAAATGCTTTGATAATAACTTAAATTCCTAACTATCCATCACATACAACCATAACTGACATGGAACATGGCATACAGAAAACAGTATTTATCCACATACAAGAGCAGTTGTAAAGCAAAACATTTATTTTCACTGAACTATTTGAGAATAAAGAGCAGGCATTAGTCTACCCCATTTACAGACGGGAAACTAAGCA... | TCCCACAAAACACACCAGCTTGAGCATAATGAATCTTTTTGGTCTCAGATATTTATTGACTCATTTATAATCATCACAGACTACTACTACCTTTCAAATACTGTATCTTTTCTTCTAAGGGTTCAAAATGCTTTGATAATAACTTAAATTCCTAACTATCCATCACATACAACCATAACTGACATGGAACATGGCATACAGAAAACAGTATTTATCCACATACAAGAGCAGTTGTAAAGCAAAACATTTATTTTCACTGAACTATTTGAGAATAAAGAGCAGGCATTAGTCTACCCCATTTACAGACGGGAAACTAAGCA... | benign | 112,238 |
The mutation in gene TRDN (triadin) at chromosome 6, position 123530506—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Catecholaminergic_polymorphic_ventricular_tachycardia_1', 'Catecholaminergic_polymorphic_ventricular_tachycardia_5'] | AACACACCAGCTTGAGCATAATGAATCTTTTTGGTCTCAGATATTTATTGACTCATTTATAATCATCACAGACTACTACTACCTTTCAAATACTGTATCTTTTCTTCTAAGGGTTCAAAATGCTTTGATAATAACTTAAATTCCTAACTATCCATCACATACAACCATAACTGACATGGAACATGGCATACAGAAAACAGTATTTATCCACATACAAGAGCAGTTGTAAAGCAAAACATTTATTTTCACTGAACTATTTGAGAATAAAGAGCAGGCATTAGTCTACCCCATTTACAGACGGGAAACTAAGCAATAAAGTG... | AACACACCAGCTTGAGCATAATGAATCTTTTTGGTCTCAGATATTTATTGACTCATTTATAATCATCACAGACTACTACTACCTTTCAAATACTGTATCTTTTCTTCTAAGGGTTCAAAATGCTTTGATAATAACTTAAATTCCTAACTATCCATCACATACAACCATAACTGACATGGAACATGGCATACAGAAAACAGTATTTATCCACATACAAGAGCAGTTGTAAAGCAAAACATTTATTTTCACTGAACTATTTGAGAATAAAGAGCAGGCATTAGTCTACCCCATTTACAGACGGGAAACTAAGCAATAAAGTG... | pathogenic | 112,239 |
Chromosome 6, position 123530547, gene TRDN (triadin): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Cardiovascular_phenotype', 'Catecholaminergic_polymorphic_ventricular_tachycardia_1', 'Catecholaminergic_polymorphic_ventricular_tachycardia_5'] | TATTTATTGACTCATTTATAATCATCACAGACTACTACTACCTTTCAAATACTGTATCTTTTCTTCTAAGGGTTCAAAATGCTTTGATAATAACTTAAATTCCTAACTATCCATCACATACAACCATAACTGACATGGAACATGGCATACAGAAAACAGTATTTATCCACATACAAGAGCAGTTGTAAAGCAAAACATTTATTTTCACTGAACTATTTGAGAATAAAGAGCAGGCATTAGTCTACCCCATTTACAGACGGGAAACTAAGCAATAAAGTGAAATCTTTTGTTCATATTCACACAGAAAAACTGTGGAAAAC... | TATTTATTGACTCATTTATAATCATCACAGACTACTACTACCTTTCAAATACTGTATCTTTTCTTCTAAGGGTTCAAAATGCTTTGATAATAACTTAAATTCCTAACTATCCATCACATACAACCATAACTGACATGGAACATGGCATACAGAAAACAGTATTTATCCACATACAAGAGCAGTTGTAAAGCAAAACATTTATTTTCACTGAACTATTTGAGAATAAAGAGCAGGCATTAGTCTACCCCATTTACAGACGGGAAACTAAGCAATAAAGTGAAATCTTTTGTTCATATTCACACAGAAAAACTGTGGAAAAC... | pathogenic | 112,241 |
Does the variant impacting TRDN (triadin) on chromosome 6, position 123530570, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | benign | ATCACAGACTACTACTACCTTTCAAATACTGTATCTTTTCTTCTAAGGGTTCAAAATGCTTTGATAATAACTTAAATTCCTAACTATCCATCACATACAACCATAACTGACATGGAACATGGCATACAGAAAACAGTATTTATCCACATACAAGAGCAGTTGTAAAGCAAAACATTTATTTTCACTGAACTATTTGAGAATAAAGAGCAGGCATTAGTCTACCCCATTTACAGACGGGAAACTAAGCAATAAAGTGAAATCTTTTGTTCATATTCACACAGAAAAACTGTGGAAAACATAAGCTCTCTCTGATTTCCAGC... | ATCACAGACTACTACTACCTTTCAAATACTGTATCTTTTCTTCTAAGGGTTCAAAATGCTTTGATAATAACTTAAATTCCTAACTATCCATCACATACAACCATAACTGACATGGAACATGGCATACAGAAAACAGTATTTATCCACATACAAGAGCAGTTGTAAAGCAAAACATTTATTTTCACTGAACTATTTGAGAATAAAGAGCAGGCATTAGTCTACCCCATTTACAGACGGGAAACTAAGCAATAAAGTGAAATCTTTTGTTCATATTCACACAGAAAAACTGTGGAAAACATAAGCTCTCTCTGATTTCCAGC... | benign | 112,243 |
The mutation impacting TRDN (triadin) on chromosome 6 at position 123547340: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Catecholaminergic_polymorphic_ventricular_tachycardia', 'Catecholaminergic_polymorphic_ventricular_tachycardia_1'] | AGAATAATTTATAGAATTTCTCCCCAATAATAATGTTAAAAGTATACTTAAAATGTAGAATATGTATTATAAATGTTTTATAAAATATTACCTACTGCTTTAAAGCTCTCATTGCCTCTATACTTCCATGAAAGAAAAGCTTACACATAAAAAATAATAATTACAATGAAATAGATCTTCTTGAATTCACTTTCAACTAAGGTTTATTATTACATAGCCTCTGTACCCAAGATAGAGCATCTGAGATTTTTACTTAAATGTCAATTTTTTTCATGTAACTGTGTGAATAATACTATTAAGAAAATATATTCAGGTGATTT... | AGAATAATTTATAGAATTTCTCCCCAATAATAATGTTAAAAGTATACTTAAAATGTAGAATATGTATTATAAATGTTTTATAAAATATTACCTACTGCTTTAAAGCTCTCATTGCCTCTATACTTCCATGAAAGAAAAGCTTACACATAAAAAATAATAATTACAATGAAATAGATCTTCTTGAATTCACTTTCAACTAAGGTTTATTATTACATAGCCTCTGTACCCAAGATAGAGCATCTGAGATTTTTACTTAAATGTCAATTTTTTTCATGTAACTGTGTGAATAATACTATTAAGAAAATATATTCAGGTGATTT... | pathogenic | 112,244 |
Mutation at chromosome 6, position 123548518, within TRDN (triadin): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Catecholaminergic_polymorphic_ventricular_tachycardia_1', 'Catecholaminergic_polymorphic_ventricular_tachycardia_5', 'TRDN-related_disorder'] | GAGAGAGCAACAGAAGCCAGGGTTATCTTCCTGGGTAAACCCTCAACAGCCTGCCCATGTGTAGCAGTAACTAAAACACTGCAATTGTTTTAAGTCTGGCTTGAATGTTGGCTGTTTTCTCACAACAAATGTACCTCAAGATGGTACTACCTGCTCCCCAGTGCCCCTTCCAGATGCAGTTCCTACCCCTTCCTGTCAAAATCTCTGTCTTCTGAAATTCCTGCCCCATTGCTGTCCTCCTTTGTCCTAGGTTTATCGTTCTTATCATTCAGGTTGTGACCACTTCACTCAGTCACCTTATCTATTCCTGCAAGTAATTC... | GAGAGAGCAACAGAAGCCAGGGTTATCTTCCTGGGTAAACCCTCAACAGCCTGCCCATGTGTAGCAGTAACTAAAACACTGCAATTGTTTTAAGTCTGGCTTGAATGTTGGCTGTTTTCTCACAACAAATGTACCTCAAGATGGTACTACCTGCTCCCCAGTGCCCCTTCCAGATGCAGTTCCTACCCCTTCCTGTCAAAATCTCTGTCTTCTGAAATTCCTGCCCCATTGCTGTCCTCCTTTGTCCTAGGTTTATCGTTCTTATCATTCAGGTTGTGACCACTTCACTCAGTCACCTTATCTATTCCTGCAAGTAATTC... | pathogenic | 112,251 |
Located at chromosome 6 position 123548624, the variant affecting gene TRDN (triadin)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | benign | GTTGGCTGTTTTCTCACAACAAATGTACCTCAAGATGGTACTACCTGCTCCCCAGTGCCCCTTCCAGATGCAGTTCCTACCCCTTCCTGTCAAAATCTCTGTCTTCTGAAATTCCTGCCCCATTGCTGTCCTCCTTTGTCCTAGGTTTATCGTTCTTATCATTCAGGTTGTGACCACTTCACTCAGTCACCTTATCTATTCCTGCAAGTAATTCCTCTACAGCACATCCAGGCACATCCAGGTAACTCCACTCCATGACAGTGACACATCACACATACCAACTGGATATGCCTTTGCCTCCTAGGCTGTTATGTCCCTCA... | GTTGGCTGTTTTCTCACAACAAATGTACCTCAAGATGGTACTACCTGCTCCCCAGTGCCCCTTCCAGATGCAGTTCCTACCCCTTCCTGTCAAAATCTCTGTCTTCTGAAATTCCTGCCCCATTGCTGTCCTCCTTTGTCCTAGGTTTATCGTTCTTATCATTCAGGTTGTGACCACTTCACTCAGTCACCTTATCTATTCCTGCAAGTAATTCCTCTACAGCACATCCAGGCACATCCAGGTAACTCCACTCCATGACAGTGACACATCACACATACCAACTGGATATGCCTTTGCCTCCTAGGCTGTTATGTCCCTCA... | benign | 112,256 |
Does the variant on chromosome 6 at location 123571098 affecting gene TRDN (triadin) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Cardiovascular_phenotype', 'Catecholaminergic_polymorphic_ventricular_tachycardia_1', 'Catecholaminergic_polymorphic_ventricular_tachycardia_5'] | CCACATCTTTGAATAGGTTGGTAGAGGCAGCCAGGCTACATCTTGAATGTTTTACTGCTTAGATATTTCTTCCAGCAGATACACTACATCATTACTCTCAGGTCCGTACTTCTACAGATCCCTAGGGCATGAAAAGAATGCAGCCAAGATCTTTGCTAAGGCATAACATGCATCACCTTTGATCCAGTCTCCAATACATTCCTCATTTCCATCTGAGACCTCATCAGCTTGGACTTCACTGTTCATATCAGTATCAGCATTTTGGTCTCAACCATTTAACCAGTCACTAAGAAGTTTCAATCTTTCCTTCCTCTTCCTAT... | CCACATCTTTGAATAGGTTGGTAGAGGCAGCCAGGCTACATCTTGAATGTTTTACTGCTTAGATATTTCTTCCAGCAGATACACTACATCATTACTCTCAGGTCCGTACTTCTACAGATCCCTAGGGCATGAAAAGAATGCAGCCAAGATCTTTGCTAAGGCATAACATGCATCACCTTTGATCCAGTCTCCAATACATTCCTCATTTCCATCTGAGACCTCATCAGCTTGGACTTCACTGTTCATATCAGTATCAGCATTTTGGTCTCAACCATTTAACCAGTCACTAAGAAGTTTCAATCTTTCCTTCCTCTTCCTAT... | pathogenic | 112,265 |
Does the variant on chromosome 6 at location 128883255 affecting gene LAMA2 (laminin subunit alpha 2) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['LAMA2-related_muscular_dystrophy'] | TTTTATAAATATTTTTTATTATTTATTAGATTAACTAATTTGAGTTGAGGCCACAACATGGTTGAGTAAAAATAATCATTTTCCTTTTTATAAATATTCAATAAAACTTTTCCTTTTTATAAATATTTTTTATTATTTATTAGATTAACTAATTTGAGTTGAGGCCACAACGTGGTTGAGTAAAAATAATCATTCTGAGAATAGCAATAGGTTTAGAAGGTTAATTTAGGGTGCCTCTCTGCTATTAGATGTACCTGAAAAACACTTCTAGGCAAAATTAGACCAAATTAAAAACACTGGGGCTTCAATTATAATAAACT... | TTTTATAAATATTTTTTATTATTTATTAGATTAACTAATTTGAGTTGAGGCCACAACATGGTTGAGTAAAAATAATCATTTTCCTTTTTATAAATATTCAATAAAACTTTTCCTTTTTATAAATATTTTTTATTATTTATTAGATTAACTAATTTGAGTTGAGGCCACAACGTGGTTGAGTAAAAATAATCATTCTGAGAATAGCAATAGGTTTAGAAGGTTAATTTAGGGTGCCTCTCTGCTATTAGATGTACCTGAAAAACACTTCTAGGCAAAATTAGACCAAATTAAAAACACTGGGGCTTCAATTATAATAAACT... | pathogenic | 112,276 |
Variant in gene LAMA2 (laminin subunit alpha 2), located at chromosome 6 position 128883304: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['LAMA2-related_muscular_dystrophy'] | GCCACAACATGGTTGAGTAAAAATAATCATTTTCCTTTTTATAAATATTCAATAAAACTTTTCCTTTTTATAAATATTTTTTATTATTTATTAGATTAACTAATTTGAGTTGAGGCCACAACGTGGTTGAGTAAAAATAATCATTCTGAGAATAGCAATAGGTTTAGAAGGTTAATTTAGGGTGCCTCTCTGCTATTAGATGTACCTGAAAAACACTTCTAGGCAAAATTAGACCAAATTAAAAACACTGGGGCTTCAATTATAATAAACTCTCAAATATAAGTTTTATTATTGTTTATTATAATAATAAATAATGTATA... | GCCACAACATGGTTGAGTAAAAATAATCATTTTCCTTTTTATAAATATTCAATAAAACTTTTCCTTTTTATAAATATTTTTTATTATTTATTAGATTAACTAATTTGAGTTGAGGCCACAACGTGGTTGAGTAAAAATAATCATTCTGAGAATAGCAATAGGTTTAGAAGGTTAATTTAGGGTGCCTCTCTGCTATTAGATGTACCTGAAAAACACTTCTAGGCAAAATTAGACCAAATTAAAAACACTGGGGCTTCAATTATAATAAACTCTCAAATATAAGTTTTATTATTGTTTATTATAATAATAAATAATGTATA... | pathogenic | 112,277 |
Clinical impact (benign or pathogenic) of the variant at chromosome 6, location 129098212, gene LAMA2 (laminin subunit alpha 2): what disease(s) if pathogenic? | pathogenic; ['LAMA2-related_muscular_dystrophy', 'Merosin_deficient_congenital_muscular_dystrophy'] | CAATATGAACTGTCTAAAAAACAATTCCTTATGAATAATACCTAAAAATGCATAAGTAGCAAATATCTTTTATAGTGGTTGATGTAACATATTCTATGTTGTTCCTACTTTTGCCCTTTCTCTGTTACTTATTTTACTTTGTCTTTATTTTAAAGATAATTTTATTTAAAAGTAAAACATTTATGTTCATACAAAAAATATAGCAGAATACGGGATGGAAAATAAAAGTCCTCCTCTTTTCTTGACTCCTAAAGGTGGCAGCTTTAATATGTTCACATAATTCCTCTCCCAAAATGTCTTGGCATATTCAAGCAGTTACA... | CAATATGAACTGTCTAAAAAACAATTCCTTATGAATAATACCTAAAAATGCATAAGTAGCAAATATCTTTTATAGTGGTTGATGTAACATATTCTATGTTGTTCCTACTTTTGCCCTTTCTCTGTTACTTATTTTACTTTGTCTTTATTTTAAAGATAATTTTATTTAAAAGTAAAACATTTATGTTCATACAAAAAATATAGCAGAATACGGGATGGAAAATAAAAGTCCTCCTCTTTTCTTGACTCCTAAAGGTGGCAGCTTTAATATGTTCACATAATTCCTCTCCCAAAATGTCTTGGCATATTCAAGCAGTTACA... | pathogenic | 112,298 |
Clinical impact (benign or pathogenic) of the variant at chromosome 6, location 129147009, gene LAMA2 (laminin subunit alpha 2): what disease(s) if pathogenic? | pathogenic; ['LAMA2-related_muscular_dystrophy', 'Merosin_deficient_congenital_muscular_dystrophy', 'Muscular_dystrophy,_limb-girdle,_autosomal_recessive_23'] | TTTATGGCACCTCCCACATATGCTGCTACACAACCAAGGCATTATTACCAGGGAAGTCAATTCAGCCATAACTCTATAAAGTAAACTCCTGTGAATAGAGTATCTACTGTATGACTAGAGGTATAGCTAAGAAAAAAGACTATAGGGAGAAATTAATATTGTAGGACAAAGCATTTAATTCTAGAATGATCCCACTAAGGTAAGACCACCGTCATCGGTTGCAAAATTGCTGAATCACTAGGGTTAATAGTTACAGATCCTAAATACTCCTCACATGTTTTCTTTCCTCGTTACTTAACTTCCCACACCCAACCTCTCCA... | TTTATGGCACCTCCCACATATGCTGCTACACAACCAAGGCATTATTACCAGGGAAGTCAATTCAGCCATAACTCTATAAAGTAAACTCCTGTGAATAGAGTATCTACTGTATGACTAGAGGTATAGCTAAGAAAAAAGACTATAGGGAGAAATTAATATTGTAGGACAAAGCATTTAATTCTAGAATGATCCCACTAAGGTAAGACCACCGTCATCGGTTGCAAAATTGCTGAATCACTAGGGTTAATAGTTACAGATCCTAAATACTCCTCACATGTTTTCTTTCCTCGTTACTTAACTTCCCACACCCAACCTCTCCA... | pathogenic | 112,309 |
Considering the variant on chromosome 6, location 129148962, involving gene LAMA2 (laminin subunit alpha 2), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | benign | TTGCAGTCATCTTAACAGGATTTCTCTCTGGATTGCTTTTTGCAGTATTACTACTCGGTCAAGGATATTTCAGTTGGAGGGATGTGCATCTGCTATGGTCATGCCAGGGCTTGTCCACTTGATCCAGCGACAAATGTATGTATATTTATAGGATGCTTAGGCAAAATGAAGCCCTGAGCTGTAAAATGTTTCATGACAGTCTTTGCTGACAGAGAACGCTGTAAATGGGAGTCAGGTCCCCACTTAGACAGTGTAACAGAAATCCATGCCAGGGTGAAATAAGAGCTGGCAGTTAGGATGATAGACTTTGAAATCAGCCA... | TTGCAGTCATCTTAACAGGATTTCTCTCTGGATTGCTTTTTGCAGTATTACTACTCGGTCAAGGATATTTCAGTTGGAGGGATGTGCATCTGCTATGGTCATGCCAGGGCTTGTCCACTTGATCCAGCGACAAATGTATGTATATTTATAGGATGCTTAGGCAAAATGAAGCCCTGAGCTGTAAAATGTTTCATGACAGTCTTTGCTGACAGAGAACGCTGTAAATGGGAGTCAGGTCCCCACTTAGACAGTGTAACAGAAATCCATGCCAGGGTGAAATAAGAGCTGGCAGTTAGGATGATAGACTTTGAAATCAGCCA... | benign | 112,311 |
Variant at chromosome 6, position 129149003, gene LAMA2 (laminin subunit alpha 2): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['LAMA2-related_muscular_dystrophy', 'Merosin_deficient_congenital_muscular_dystrophy'] | GCAGTATTACTACTCGGTCAAGGATATTTCAGTTGGAGGGATGTGCATCTGCTATGGTCATGCCAGGGCTTGTCCACTTGATCCAGCGACAAATGTATGTATATTTATAGGATGCTTAGGCAAAATGAAGCCCTGAGCTGTAAAATGTTTCATGACAGTCTTTGCTGACAGAGAACGCTGTAAATGGGAGTCAGGTCCCCACTTAGACAGTGTAACAGAAATCCATGCCAGGGTGAAATAAGAGCTGGCAGTTAGGATGATAGACTTTGAAATCAGCCATCACAGTATAAGAAAACAGATTAGTTTTTCCTTTTTTTTTT... | GCAGTATTACTACTCGGTCAAGGATATTTCAGTTGGAGGGATGTGCATCTGCTATGGTCATGCCAGGGCTTGTCCACTTGATCCAGCGACAAATGTATGTATATTTATAGGATGCTTAGGCAAAATGAAGCCCTGAGCTGTAAAATGTTTCATGACAGTCTTTGCTGACAGAGAACGCTGTAAATGGGAGTCAGGTCCCCACTTAGACAGTGTAACAGAAATCCATGCCAGGGTGAAATAAGAGCTGGCAGTTAGGATGATAGACTTTGAAATCAGCCATCACAGTATAAGAAAACAGATTAGTTTTTCCTTTTTTTTTT... | pathogenic | 112,313 |
Variant in LAMA2 (laminin subunit alpha 2), chromosome 6, position 129149007—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Inborn_genetic_diseases', 'LAMA2-related_muscular_dystrophy', 'Merosin_deficient_congenital_muscular_dystrophy'] | TATTACTACTCGGTCAAGGATATTTCAGTTGGAGGGATGTGCATCTGCTATGGTCATGCCAGGGCTTGTCCACTTGATCCAGCGACAAATGTATGTATATTTATAGGATGCTTAGGCAAAATGAAGCCCTGAGCTGTAAAATGTTTCATGACAGTCTTTGCTGACAGAGAACGCTGTAAATGGGAGTCAGGTCCCCACTTAGACAGTGTAACAGAAATCCATGCCAGGGTGAAATAAGAGCTGGCAGTTAGGATGATAGACTTTGAAATCAGCCATCACAGTATAAGAAAACAGATTAGTTTTTCCTTTTTTTTTTTTTT... | TATTACTACTCGGTCAAGGATATTTCAGTTGGAGGGATGTGCATCTGCTATGGTCATGCCAGGGCTTGTCCACTTGATCCAGCGACAAATGTATGTATATTTATAGGATGCTTAGGCAAAATGAAGCCCTGAGCTGTAAAATGTTTCATGACAGTCTTTGCTGACAGAGAACGCTGTAAATGGGAGTCAGGTCCCCACTTAGACAGTGTAACAGAAATCCATGCCAGGGTGAAATAAGAGCTGGCAGTTAGGATGATAGACTTTGAAATCAGCCATCACAGTATAAGAAAACAGATTAGTTTTTCCTTTTTTTTTTTTTT... | pathogenic | 112,314 |
Determine whether the variant at chromosome 6, position 129149020, in gene LAMA2 (laminin subunit alpha 2) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Inborn_genetic_diseases', 'LAMA2-related_muscular_dystrophy', 'Merosin_deficient_congenital_muscular_dystrophy', 'Muscular_dystrophy,_limb-girdle,_autosomal_recessive_23'] | TCAAGGATATTTCAGTTGGAGGGATGTGCATCTGCTATGGTCATGCCAGGGCTTGTCCACTTGATCCAGCGACAAATGTATGTATATTTATAGGATGCTTAGGCAAAATGAAGCCCTGAGCTGTAAAATGTTTCATGACAGTCTTTGCTGACAGAGAACGCTGTAAATGGGAGTCAGGTCCCCACTTAGACAGTGTAACAGAAATCCATGCCAGGGTGAAATAAGAGCTGGCAGTTAGGATGATAGACTTTGAAATCAGCCATCACAGTATAAGAAAACAGATTAGTTTTTCCTTTTTTTTTTTTTTTTTCAAAAAGGCT... | TCAAGGATATTTCAGTTGGAGGGATGTGCATCTGCTATGGTCATGCCAGGGCTTGTCCACTTGATCCAGCGACAAATGTATGTATATTTATAGGATGCTTAGGCAAAATGAAGCCCTGAGCTGTAAAATGTTTCATGACAGTCTTTGCTGACAGAGAACGCTGTAAATGGGAGTCAGGTCCCCACTTAGACAGTGTAACAGAAATCCATGCCAGGGTGAAATAAGAGCTGGCAGTTAGGATGATAGACTTTGAAATCAGCCATCACAGTATAAGAAAACAGATTAGTTTTTCCTTTTTTTTTTTTTTTTTCAAAAAGGCT... | pathogenic | 112,315 |
Classify the chromosome 6 variant at position 129154598 affecting gene LAMA2 (laminin subunit alpha 2) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['LAMA2-related_muscular_dystrophy', 'Merosin_deficient_congenital_muscular_dystrophy'] | TAACATTTATTGAGCTCAGTATTTAGTATGTTTCAGGCATTCTGCTAAGCATTCTCAAAACATGTATGAGACAAGTACTAAAGTGATGCTAGGACTCGAGTTTTTGCCTCAAAGTCACTCAACTGGCAAATAGGAAACTTTTCTAACATTAGAGCGCCTCCCTCCACCCGGCATCCTTGTCCTCCCAGTATGTGTGTGGTGTTATTTGTAAAGGGAGAAACATGGAAACTGTGTAACTGTTCATTAATAGGGACCTGATAAATACCTTCATTCAAGTAGTACCCTGTGTACCCTTAGGGGATACACATGCTAATATGGAA... | TAACATTTATTGAGCTCAGTATTTAGTATGTTTCAGGCATTCTGCTAAGCATTCTCAAAACATGTATGAGACAAGTACTAAAGTGATGCTAGGACTCGAGTTTTTGCCTCAAAGTCACTCAACTGGCAAATAGGAAACTTTTCTAACATTAGAGCGCCTCCCTCCACCCGGCATCCTTGTCCTCCCAGTATGTGTGTGGTGTTATTTGTAAAGGGAGAAACATGGAAACTGTGTAACTGTTCATTAATAGGGACCTGATAAATACCTTCATTCAAGTAGTACCCTGTGTACCCTTAGGGGATACACATGCTAATATGGAA... | pathogenic | 112,319 |
Gene mutation in LAMA2 (laminin subunit alpha 2) at chromosome 6, position 129154599—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Congenital_Muscular_Dystrophy,_LAMA2-related', 'LAMA2-related_muscular_dystrophy', 'Merosin_deficient_congenital_muscular_dystrophy', 'Muscular_dystrophy,_limb-girdle,_autosomal_recessive_23'] | AACATTTATTGAGCTCAGTATTTAGTATGTTTCAGGCATTCTGCTAAGCATTCTCAAAACATGTATGAGACAAGTACTAAAGTGATGCTAGGACTCGAGTTTTTGCCTCAAAGTCACTCAACTGGCAAATAGGAAACTTTTCTAACATTAGAGCGCCTCCCTCCACCCGGCATCCTTGTCCTCCCAGTATGTGTGTGGTGTTATTTGTAAAGGGAGAAACATGGAAACTGTGTAACTGTTCATTAATAGGGACCTGATAAATACCTTCATTCAAGTAGTACCCTGTGTACCCTTAGGGGATACACATGCTAATATGGAAA... | AACATTTATTGAGCTCAGTATTTAGTATGTTTCAGGCATTCTGCTAAGCATTCTCAAAACATGTATGAGACAAGTACTAAAGTGATGCTAGGACTCGAGTTTTTGCCTCAAAGTCACTCAACTGGCAAATAGGAAACTTTTCTAACATTAGAGCGCCTCCCTCCACCCGGCATCCTTGTCCTCCCAGTATGTGTGTGGTGTTATTTGTAAAGGGAGAAACATGGAAACTGTGTAACTGTTCATTAATAGGGACCTGATAAATACCTTCATTCAAGTAGTACCCTGTGTACCCTTAGGGGATACACATGCTAATATGGAAA... | pathogenic | 112,320 |
Assess the variant on chromosome 6, position 129154680, impacting LAMA2 (laminin subunit alpha 2): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['LAMA2-related_muscular_dystrophy', 'Merosin_deficient_congenital_muscular_dystrophy'] | GTGATGCTAGGACTCGAGTTTTTGCCTCAAAGTCACTCAACTGGCAAATAGGAAACTTTTCTAACATTAGAGCGCCTCCCTCCACCCGGCATCCTTGTCCTCCCAGTATGTGTGTGGTGTTATTTGTAAAGGGAGAAACATGGAAACTGTGTAACTGTTCATTAATAGGGACCTGATAAATACCTTCATTCAAGTAGTACCCTGTGTACCCTTAGGGGATACACATGCTAATATGGAAAGGGCTCCATGATTTACTGTTAGTAAAAAGAACCGGTTCTAAACAGTATACAAATGCCCCTTCCCTTTTGTAGAATAAATAA... | GTGATGCTAGGACTCGAGTTTTTGCCTCAAAGTCACTCAACTGGCAAATAGGAAACTTTTCTAACATTAGAGCGCCTCCCTCCACCCGGCATCCTTGTCCTCCCAGTATGTGTGTGGTGTTATTTGTAAAGGGAGAAACATGGAAACTGTGTAACTGTTCATTAATAGGGACCTGATAAATACCTTCATTCAAGTAGTACCCTGTGTACCCTTAGGGGATACACATGCTAATATGGAAAGGGCTCCATGATTTACTGTTAGTAAAAAGAACCGGTTCTAAACAGTATACAAATGCCCCTTCCCTTTTGTAGAATAAATAA... | pathogenic | 112,321 |
Is the genetic change at chromosome 6, position 129165622, within gene LAMA2 (laminin subunit alpha 2) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['LAMA2-related_muscular_dystrophy', 'Merosin_deficient_congenital_muscular_dystrophy', 'Muscular_dystrophy,_limb-girdle,_autosomal_recessive_23'] | AGTGGGTCAAGCTTGCACCAGTGCACTTCAGCCTGGGCAAGAGAGCGAGACCCTATCTCAAAAATAAATACAAATAAATAAATAAATAAATTCTCATTATATTTACTTTTAACAATAGTATCATGTTTGAGAAAACTTTGGCCTGTAGACCAAATCCTGGCCTATGGCCAGATGACTACAAAAGTAGTCATTAGGTTGACTACTCTTCCTCCTATCATCTCTACCTGATGTTAAGCATATCCAGTGAATTATTAAATTGAGGTATTTTACTTTTCAGCTTTCTGGAGTTCTTATGTTCCTTACAGCTTCCATTTCTCTGA... | AGTGGGTCAAGCTTGCACCAGTGCACTTCAGCCTGGGCAAGAGAGCGAGACCCTATCTCAAAAATAAATACAAATAAATAAATAAATAAATTCTCATTATATTTACTTTTAACAATAGTATCATGTTTGAGAAAACTTTGGCCTGTAGACCAAATCCTGGCCTATGGCCAGATGACTACAAAAGTAGTCATTAGGTTGACTACTCTTCCTCCTATCATCTCTACCTGATGTTAAGCATATCCAGTGAATTATTAAATTGAGGTATTTTACTTTTCAGCTTTCTGGAGTTCTTATGTTCCTTACAGCTTCCATTTCTCTGA... | pathogenic | 112,325 |
Gene LAMA2 (laminin subunit alpha 2) variant at chromosome position 129165630 on chromosome 6: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Merosin_deficient_congenital_muscular_dystrophy'] | AAGCTTGCACCAGTGCACTTCAGCCTGGGCAAGAGAGCGAGACCCTATCTCAAAAATAAATACAAATAAATAAATAAATAAATTCTCATTATATTTACTTTTAACAATAGTATCATGTTTGAGAAAACTTTGGCCTGTAGACCAAATCCTGGCCTATGGCCAGATGACTACAAAAGTAGTCATTAGGTTGACTACTCTTCCTCCTATCATCTCTACCTGATGTTAAGCATATCCAGTGAATTATTAAATTGAGGTATTTTACTTTTCAGCTTTCTGGAGTTCTTATGTTCCTTACAGCTTCCATTTCTCTGAAATACTCC... | AAGCTTGCACCAGTGCACTTCAGCCTGGGCAAGAGAGCGAGACCCTATCTCAAAAATAAATACAAATAAATAAATAAATAAATTCTCATTATATTTACTTTTAACAATAGTATCATGTTTGAGAAAACTTTGGCCTGTAGACCAAATCCTGGCCTATGGCCAGATGACTACAAAAGTAGTCATTAGGTTGACTACTCTTCCTCCTATCATCTCTACCTGATGTTAAGCATATCCAGTGAATTATTAAATTGAGGTATTTTACTTTTCAGCTTTCTGGAGTTCTTATGTTCCTTACAGCTTCCATTTCTCTGAAATACTCC... | pathogenic | 112,326 |
Does the chromosome 6 mutation at position 129190225 within gene LAMA2 (laminin subunit alpha 2) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Inborn_genetic_diseases', 'Merosin_deficient_congenital_muscular_dystrophy'] | GCCTTTAAAGACAGACTTATTTAAAGACAGACCTTGACTTATTTATCTTCATAGTGCCTAGAATTCCTACCCTAATGTGTTGCTTCAGGTTATTAAATAAAATTGAATGTGAAATTATTTAATCATATTTTTTCAAGGTCATTTTACTAGGCTAAAATGGAGCTAAGGAAAATGTAGCTAATGTCTGCAAATTTCTAATTGTTGAACTTAGTCTGAATCTCAGAATAGTGGCATTATAAGCTTTCAAATTAGAGTAAATGAAAAGTAGATTAGACCAAGCGCATAAGAACACAGTATACAGAACAGCTGTACTGTGTCCT... | GCCTTTAAAGACAGACTTATTTAAAGACAGACCTTGACTTATTTATCTTCATAGTGCCTAGAATTCCTACCCTAATGTGTTGCTTCAGGTTATTAAATAAAATTGAATGTGAAATTATTTAATCATATTTTTTCAAGGTCATTTTACTAGGCTAAAATGGAGCTAAGGAAAATGTAGCTAATGTCTGCAAATTTCTAATTGTTGAACTTAGTCTGAATCTCAGAATAGTGGCATTATAAGCTTTCAAATTAGAGTAAATGAAAAGTAGATTAGACCAAGCGCATAAGAACACAGTATACAGAACAGCTGTACTGTGTCCT... | pathogenic | 112,340 |
Clinically, how would you classify the variant at chromosome 6, position 129192679, gene LAMA2 (laminin subunit alpha 2): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['LAMA2-related_muscular_dystrophy'] | AGGGTGCATGATTTAAGAGAGAAAACACTACATTGTGATATGAATTATATTTTCCATTACTAGTATGTTCGTATGCAAGTTGAGAAAAACTCTGTATCATCTGTATACATAATACATATTATCCACCAACGCTTTAGTTACTATTTGATGTTGCCTAGGCTCTTTCATTATTAAAAGGGGACATTAAATATAGGCAATACCTTCATTCTGAGTTGGTTTGAAAAATTATTACTTAAACTATTTAATAGCAACTGAAATTTTCTTTCTTTAACGTAAATGTGTTTACCTTTCTAACTTCACTGCCTACACTACCCACTGCC... | AGGGTGCATGATTTAAGAGAGAAAACACTACATTGTGATATGAATTATATTTTCCATTACTAGTATGTTCGTATGCAAGTTGAGAAAAACTCTGTATCATCTGTATACATAATACATATTATCCACCAACGCTTTAGTTACTATTTGATGTTGCCTAGGCTCTTTCATTATTAAAAGGGGACATTAAATATAGGCAATACCTTCATTCTGAGTTGGTTTGAAAAATTATTACTTAAACTATTTAATAGCAACTGAAATTTTCTTTCTTTAACGTAAATGTGTTTACCTTTCTAACTTCACTGCCTACACTACCCACTGCC... | pathogenic | 112,344 |
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