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 |
|---|---|---|---|---|---|
The mutation impacting POLE (DNA polymerase epsilon, catalytic subunit) on chromosome 12 at position 132661167: benign or pathogenic? Name the associated disease(s) if pathogenic. | benign | CCAAACTTGGTGTTAAACACAGCCCAAATCTGTAAGGAACCCCTTACCTCTCCGTGACAGGGCAGCCCTCACCTCTCTGTGATGAGGGGAGCCCTCACCTCTCCGTGACGGAGGGAGCCCTCACCTGTCCGTGATGGGAGGAGCCCTCACCTCTCCGTGATGGGGGGAGCCCTCACCTCTCCGTGACAGGGGAGCCCTCGGGCTTGCGGGAGATGATGTAGCGGCAACTCAGCCCTGCATCCTTGACCATCTGGTCTCCCAGGAACTCGGCCAGGCGCTTTGCTGTGCTGATGGACGTAGACTTCTGCTCCCCGTAATCT... | CCAAACTTGGTGTTAAACACAGCCCAAATCTGTAAGGAACCCCTTACCTCTCCGTGACAGGGCAGCCCTCACCTCTCTGTGATGAGGGGAGCCCTCACCTCTCCGTGACGGAGGGAGCCCTCACCTGTCCGTGATGGGAGGAGCCCTCACCTCTCCGTGATGGGGGGAGCCCTCACCTCTCCGTGACAGGGGAGCCCTCGGGCTTGCGGGAGATGATGTAGCGGCAACTCAGCCCTGCATCCTTGACCATCTGGTCTCCCAGGAACTCGGCCAGGCGCTTTGCTGTGCTGATGGACGTAGACTTCTGCTCCCCGTAATCT... | benign | 205,959 |
Gene mutation in POLE (DNA polymerase epsilon, catalytic subunit) at chromosome 12, position 132661659—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic | ACGCAGAAGGCTGCAATTTCAAGAGCTCTCTAATATGCCTGTGTGGCAATACTTTAAAACATACACACACACACAAAACTTTAGCTTTTATATTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGGAGTGCAGTGGTGCAATCTCAACTCACTAAAACCTCCCCTCCTGGGTTCAAGAGATTCTCGTGCCTCAGCCTCCCAAGTAGCTGAGATTACAGGCACATGCCATCACATCCAGCTAATTTTTGTATTTTTAGTAGAGAAAGGGTTTTGCCATGTTGGCCAGGCTGGTTTCCAACTCCTGACCTCAAGTG... | ACGCAGAAGGCTGCAATTTCAAGAGCTCTCTAATATGCCTGTGTGGCAATACTTTAAAACATACACACACACACAAAACTTTAGCTTTTATATTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGGAGTGCAGTGGTGCAATCTCAACTCACTAAAACCTCCCCTCCTGGGTTCAAGAGATTCTCGTGCCTCAGCCTCCCAAGTAGCTGAGATTACAGGCACATGCCATCACATCCAGCTAATTTTTGTATTTTTAGTAGAGAAAGGGTTTTGCCATGTTGGCCAGGCTGGTTTCCAACTCCTGACCTCAAGTG... | pathogenic | 205,980 |
Is the genetic mutation found on chromosome 12 at position 132663991, within the gene POLE (DNA polymerase epsilon, catalytic subunit), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | benign | GCAAAATTATAGTACAAAAAACACATTGTGGGTTGCCAGGGTTTCGGGGTAGGGAGAGGATTTGCTGACAAAGGGGTTGCAGCTGTTTTGTGTTGCTTCGTGGTGCTGGACACACACACTATGCACTTGTCCAAACCCACAGGGCTGTACGCTACAGAGTGAACGTCACTGTGTGCAAATTACAAGCCATCCAGCCATGGTGCTGGGATCCCAAGAGGGGTGCAGACTGGGCCAAATGAGCCCAACAGCACTGTGGACATACAGCAGAACATGCCAACAGGGTGGGGAGGAAGGAGCTGCCCGTGAACTCTGCTGACTGG... | GCAAAATTATAGTACAAAAAACACATTGTGGGTTGCCAGGGTTTCGGGGTAGGGAGAGGATTTGCTGACAAAGGGGTTGCAGCTGTTTTGTGTTGCTTCGTGGTGCTGGACACACACACTATGCACTTGTCCAAACCCACAGGGCTGTACGCTACAGAGTGAACGTCACTGTGTGCAAATTACAAGCCATCCAGCCATGGTGCTGGGATCCCAAGAGGGGTGCAGACTGGGCCAAATGAGCCCAACAGCACTGTGGACATACAGCAGAACATGCCAACAGGGTGGGGAGGAAGGAGCTGCCCGTGAACTCTGCTGACTGG... | benign | 205,984 |
Variant at chromosome 12, position 132668572, gene POLE (DNA polymerase epsilon, catalytic subunit): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | benign | GTGAGCCAAGGTCACACCACTGTGCTCCAACCTTGGTGACAGAGTGAGACCCCGTCTCCAAAAAAGAAAGCATCATGCTAAGTGAAAAAGCCGGTCACAAAGATACAAATACTGCACGGTTCACTTACATGACATCCCTAGAGTCGTGGAATTCAGAGAGAGAAAGTGGAATGGGGTCACTAGGGGCCAGGGAGGAGGTGGGGAGCTACTGTTTGATGGAGATAAGAGTTTCCGTTTCAGAAGGCGAAGAATTCTGGAGGTAGATGGTGGTGATAGTTGCACAACAGTGCGAATATGCTTCATGCCCCTGAACTGAGCAC... | GTGAGCCAAGGTCACACCACTGTGCTCCAACCTTGGTGACAGAGTGAGACCCCGTCTCCAAAAAAGAAAGCATCATGCTAAGTGAAAAAGCCGGTCACAAAGATACAAATACTGCACGGTTCACTTACATGACATCCCTAGAGTCGTGGAATTCAGAGAGAGAAAGTGGAATGGGGTCACTAGGGGCCAGGGAGGAGGTGGGGAGCTACTGTTTGATGGAGATAAGAGTTTCCGTTTCAGAAGGCGAAGAATTCTGGAGGTAGATGGTGGTGATAGTTGCACAACAGTGCGAATATGCTTCATGCCCCTGAACTGAGCAC... | benign | 206,137 |
Variant in POLE (DNA polymerase epsilon, catalytic subunit), chromosome 12, position 132668742—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | benign | ATGGGGTCACTAGGGGCCAGGGAGGAGGTGGGGAGCTACTGTTTGATGGAGATAAGAGTTTCCGTTTCAGAAGGCGAAGAATTCTGGAGGTAGATGGTGGTGATAGTTGCACAACAGTGCGAATATGCTTCATGCCCCTGAACTGAGCACTTAAAAACACTAAATGTCATATTATGTCCGCCTTACCATTATAAAAAAGAACATGTGACGATGAGTTCAGCAGGGCAGTGCAGGATGCCAGGGGGCCGCACAGCAGGGGCCGTGCTGAGTCTACAGTGAAGGTCTCTCAGAAAAAAAATGGCTCAATCTGATCAGATATA... | ATGGGGTCACTAGGGGCCAGGGAGGAGGTGGGGAGCTACTGTTTGATGGAGATAAGAGTTTCCGTTTCAGAAGGCGAAGAATTCTGGAGGTAGATGGTGGTGATAGTTGCACAACAGTGCGAATATGCTTCATGCCCCTGAACTGAGCACTTAAAAACACTAAATGTCATATTATGTCCGCCTTACCATTATAAAAAAGAACATGTGACGATGAGTTCAGCAGGGCAGTGCAGGATGCCAGGGGGCCGCACAGCAGGGGCCGTGCTGAGTCTACAGTGAAGGTCTCTCAGAAAAAAAATGGCTCAATCTGATCAGATATA... | benign | 206,157 |
Located at chromosome 12 position 132672178, the variant affecting gene POLE (DNA polymerase epsilon, catalytic subunit)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | benign | GGGAGGCCAAGCGGGCAGATCAGCTGAGGTCGGGAGTTCGAGACCAGCCTGGCCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAAAAAAAATTACCCAGGCGTGGTGGCAAGCGCCTGTTATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACCCAGGAGGCAGAGGTTGTGGTGAGCCGAGATCATGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCTGTCTCAGATTCTGAGACGTCTCGCCACCACGCCTGGGTAATTTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCTCCA... | GGGAGGCCAAGCGGGCAGATCAGCTGAGGTCGGGAGTTCGAGACCAGCCTGGCCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAAAAAAAATTACCCAGGCGTGGTGGCAAGCGCCTGTTATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACCCAGGAGGCAGAGGTTGTGGTGAGCCGAGATCATGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCTGTCTCAGATTCTGAGACGTCTCGCCACCACGCCTGGGTAATTTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCTCCA... | benign | 206,188 |
A genetic alteration at chromosome 12, position 132672203, in gene POLE (DNA polymerase epsilon, catalytic subunit)—benign or pathogenic? If pathogenic, which disease(s) is involved? | benign | GAGGTCGGGAGTTCGAGACCAGCCTGGCCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAAAAAAAATTACCCAGGCGTGGTGGCAAGCGCCTGTTATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACCCAGGAGGCAGAGGTTGTGGTGAGCCGAGATCATGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCTGTCTCAGATTCTGAGACGTCTCGCCACCACGCCTGGGTAATTTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGCCAGGCTGGTCTCAAACTC... | GAGGTCGGGAGTTCGAGACCAGCCTGGCCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAAAAAAAATTACCCAGGCGTGGTGGCAAGCGCCTGTTATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACCCAGGAGGCAGAGGTTGTGGTGAGCCGAGATCATGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCTGTCTCAGATTCTGAGACGTCTCGCCACCACGCCTGGGTAATTTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGCCAGGCTGGTCTCAAACTC... | benign | 206,190 |
The mutation impacting POLE (DNA polymerase epsilon, catalytic subunit) on chromosome 12 at position 132673196: benign or pathogenic? Name the associated disease(s) if pathogenic. | benign | AGCTACTCAGGAGGCTGAGACAGGAGAATCGCTTGAACCCAGGAGGCAAAGGTTGCAGTAAGCCGAGATCATGCCATTGCACTCCAGTGTGGGTGACAGAGCAAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAGTTTCTTGGCATCAATGTGAAAACTGTTAAAAACTCTAAACCAGCAACCTCACTGAACATGATGTAGTGCTGCACAGTGCCTGACATAAAGACCTGAGATAGGCCAGGCGCGGTGCCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCACAAGGTCAGGAGTTCA... | AGCTACTCAGGAGGCTGAGACAGGAGAATCGCTTGAACCCAGGAGGCAAAGGTTGCAGTAAGCCGAGATCATGCCATTGCACTCCAGTGTGGGTGACAGAGCAAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAGTTTCTTGGCATCAATGTGAAAACTGTTAAAAACTCTAAACCAGCAACCTCACTGAACATGATGTAGTGCTGCACAGTGCCTGACATAAAGACCTGAGATAGGCCAGGCGCGGTGCCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCACAAGGTCAGGAGTTCA... | benign | 206,272 |
Regarding the variant found on chromosome 12 at position 132677344 in gene POLE (DNA polymerase epsilon, catalytic subunit): is it benign or pathogenic? If pathogenic, identify the disease(s). | benign | CACCCTCCTCCCATGAGATGTGGTGACAGCACAGTCTGCAAGAGGCCTTCAGATCTCGCTCACGGACAGCAGTGAGGAGCCATGCTGCTCTGTGGCCCCTACCTGAGGCAGTCCATGTGGATGCACTGGGGCGCCTTGTACTCCCCCTGGCTGTCCTTCTGGAAGCCTATCTCCTGCTGCATGCTCAGACCGTGGACTGCTGCCCGGGCCTCCACAAATGGCCTGGGTTGGAAAGAGGACAGACAAGCAAGTGGGCAGGTCAGGCTCTAATGCCCCTTTCTCCATTCCTCCCTCAGACCCAGGGAGGAACCCAGACACGG... | CACCCTCCTCCCATGAGATGTGGTGACAGCACAGTCTGCAAGAGGCCTTCAGATCTCGCTCACGGACAGCAGTGAGGAGCCATGCTGCTCTGTGGCCCCTACCTGAGGCAGTCCATGTGGATGCACTGGGGCGCCTTGTACTCCCCCTGGCTGTCCTTCTGGAAGCCTATCTCCTGCTGCATGCTCAGACCGTGGACTGCTGCCCGGGCCTCCACAAATGGCCTGGGTTGGAAAGAGGACAGACAAGCAAGTGGGCAGGTCAGGCTCTAATGCCCCTTTCTCCATTCCTCCCTCAGACCCAGGGAGGAACCCAGACACGG... | benign | 206,389 |
Does the genetic variant at chromosome 12, position 132677450, impacting gene POLE (DNA polymerase epsilon, catalytic subunit), appear benign or pathogenic? If pathogenic, name the associated disease(s). | benign | GGCAGTCCATGTGGATGCACTGGGGCGCCTTGTACTCCCCCTGGCTGTCCTTCTGGAAGCCTATCTCCTGCTGCATGCTCAGACCGTGGACTGCTGCCCGGGCCTCCACAAATGGCCTGGGTTGGAAAGAGGACAGACAAGCAAGTGGGCAGGTCAGGCTCTAATGCCCCTTTCTCCATTCCTCCCTCAGACCCAGGGAGGAACCCAGACACGGGAGGTGCAGAGTGAACCCAGGAGCCACCTCCTAAGTCGACATGGGAAGCGCCCCTGCACCACGCAACGCCCTCCCTCTCAAATGCTGCCCAGTTACTCATAGAGAA... | GGCAGTCCATGTGGATGCACTGGGGCGCCTTGTACTCCCCCTGGCTGTCCTTCTGGAAGCCTATCTCCTGCTGCATGCTCAGACCGTGGACTGCTGCCCGGGCCTCCACAAATGGCCTGGGTTGGAAAGAGGACAGACAAGCAAGTGGGCAGGTCAGGCTCTAATGCCCCTTTCTCCATTCCTCCCTCAGACCCAGGGAGGAACCCAGACACGGGAGGTGCAGAGTGAACCCAGGAGCCACCTCCTAAGTCGACATGGGAAGCGCCCCTGCACCACGCAACGCCCTCCCTCTCAAATGCTGCCCAGTTACTCATAGAGAA... | benign | 206,412 |
Is the genetic variant on chromosome 12, position 132687264, gene POLE, benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Facial_dysmorphism-immunodeficiency-livedo-short_stature_syndrome'] | TGGTTACTGTATCACACCGTCCCAGTACTACACACAGGCTCTCATTCACAGAGAGCTACCATTGACTGGTTACTGTATCACACTGTCCCAGTACTCCACACAGGCTCTCATTCACAGAGAGCTACCATTGACTGGTTACTGTATCACACCGTCCCAGTACTCCACATATGCTCTCATTCAGTTTTCATGACAACCCCTACGAGGGAGGCCACTGGTGTCCCCATTTCACACAAGAAGAAACGCAGGCAAACAGCACCCACTGCCTCCTGGGGCACACTCACCTCCCAGGACTGTTTTAAGGATGAGATGAGGTAACCCAC... | TGGTTACTGTATCACACCGTCCCAGTACTACACACAGGCTCTCATTCACAGAGAGCTACCATTGACTGGTTACTGTATCACACTGTCCCAGTACTCCACACAGGCTCTCATTCACAGAGAGCTACCATTGACTGGTTACTGTATCACACCGTCCCAGTACTCCACATATGCTCTCATTCAGTTTTCATGACAACCCCTACGAGGGAGGCCACTGGTGTCCCCATTTCACACAAGAAGAAACGCAGGCAAACAGCACCCACTGCCTCCTGGGGCACACTCACCTCCCAGGACTGTTTTAAGGATGAGATGAGGTAACCCAC... | pathogenic | 206,545 |
Determine if the mutation at chromosome 12, position 132687352 in gene POLE is benign or pathogenic. If pathogenic, what disease(s) is associated? | benign | CAGTACTCCACACAGGCTCTCATTCACAGAGAGCTACCATTGACTGGTTACTGTATCACACCGTCCCAGTACTCCACATATGCTCTCATTCAGTTTTCATGACAACCCCTACGAGGGAGGCCACTGGTGTCCCCATTTCACACAAGAAGAAACGCAGGCAAACAGCACCCACTGCCTCCTGGGGCACACTCACCTCCCAGGACTGTTTTAAGGATGAGATGAGGTAACCCACATAAAGCATGTAAGGTAAAAGCCATCACTTGTACTTATCCCAGCAGCAGCCTTCCCCCTGCCTGGAGGCCATCACTGAGCTTGGGGCA... | CAGTACTCCACACAGGCTCTCATTCACAGAGAGCTACCATTGACTGGTTACTGTATCACACCGTCCCAGTACTCCACATATGCTCTCATTCAGTTTTCATGACAACCCCTACGAGGGAGGCCACTGGTGTCCCCATTTCACACAAGAAGAAACGCAGGCAAACAGCACCCACTGCCTCCTGGGGCACACTCACCTCCCAGGACTGTTTTAAGGATGAGATGAGGTAACCCACATAAAGCATGTAAGGTAAAAGCCATCACTTGTACTTATCCCAGCAGCAGCCTTCCCCCTGCCTGGAGGCCATCACTGAGCTTGGGGCA... | benign | 206,567 |
Is the variant located on chromosome 13 at position 20058607, gene ZMYM2 (zinc finger MYM-type containing 2), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Neurodevelopmental-craniofacial_syndrome_with_variable_renal_and_cardiac_abnormalities', 'ZMYM2-related_disorder'] | ACTCCTGGAAGCAGTCACAATATGCATCTTCTTGATTATGGCGACACAACCTGGGGGCAGTATAAAGCAGTCCATTGATAACTGTTGGGAAGATGTTTGATCAGACTGAAAAGGTGTTAAAGAAATTATAAAGAACAATGTTAAAAACATAATGTGCATCACACAGCAAATGAGCATAGAAGGCTTTGGCAACATGAAGGAAGGTGATATCAGAATGGAATTCTGTCTTGGGAAAAATTGTCAATAAAACAGAAAAATGTGGCCCTATGCTTGAGCACAGTCTCAATTTTAAGCGCTACTGAGAACATGCCTTGAGATGC... | ACTCCTGGAAGCAGTCACAATATGCATCTTCTTGATTATGGCGACACAACCTGGGGGCAGTATAAAGCAGTCCATTGATAACTGTTGGGAAGATGTTTGATCAGACTGAAAAGGTGTTAAAGAAATTATAAAGAACAATGTTAAAAACATAATGTGCATCACACAGCAAATGAGCATAGAAGGCTTTGGCAACATGAAGGAAGGTGATATCAGAATGGAATTCTGTCTTGGGAAAAATTGTCAATAAAACAGAAAAATGTGGCCCTATGCTTGAGCACAGTCTCAATTTTAAGCGCTACTGAGAACATGCCTTGAGATGC... | pathogenic | 206,664 |
Assess the variant on chromosome 13, position 20141791, impacting GJA3 (gap junction protein alpha 3): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | benign | AAACATATTGTGACTAAATTCAATTTTAAAATGTAAAAACTAGATACAATTTGAGTTCTCATGCTCATCTCCAACCCCACTCAAAATCAAATTGTGGGTAAATAAGAAGCTTGTTACTGTTATGAACATTTATTATGGTAGAACTTAAAGAACCAAGTATTGACATCCACTTGTACTTGAGCTGTACTTGTGCTCTTGGATGATTGCTATTGCATTTTCTAAAATGGCCAAAGCTTTTTATCGGAATGCTTCTCACACTAGGATCTTCTAGCAGCCCTTATCACTCACAAGAACTAAGTCCTGCTGCCCTAGGCCTATGG... | AAACATATTGTGACTAAATTCAATTTTAAAATGTAAAAACTAGATACAATTTGAGTTCTCATGCTCATCTCCAACCCCACTCAAAATCAAATTGTGGGTAAATAAGAAGCTTGTTACTGTTATGAACATTTATTATGGTAGAACTTAAAGAACCAAGTATTGACATCCACTTGTACTTGAGCTGTACTTGTGCTCTTGGATGATTGCTATTGCATTTTCTAAAATGGCCAAAGCTTTTTATCGGAATGCTTCTCACACTAGGATCTTCTAGCAGCCCTTATCACTCACAAGAACTAAGTCCTGCTGCCCTAGGCCTATGG... | benign | 206,687 |
Is the genetic change at chromosome 13, position 20188931, within gene GJB2 (gap junction protein beta 2) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Autosomal_dominant_keratitis-ichthyosis-hearing_loss_syndrome', 'Autosomal_dominant_nonsyndromic_hearing_loss_3A', 'Autosomal_recessive_nonsyndromic_hearing_loss_1A', 'GJB2-related_disorder', 'Hearing_impairment', 'Ichthyosis,_hystrix-like,_with_hearing_loss', 'Inborn_genetic_diseases', 'Knuckle_pads,_dea... | ATGCCTGTAATCCTTGCACTTTAGGAGACTGAGGCAGGGGGATCCCTTCAGCCCAGGAGTTCGAGACCAGACTGGGCAATATAGTGGGACCTCGTTTCTACAAAAAATGAAAAAATTAGTGGAGTGTGGTGGCACACTCCAGTGGTCCCAGCTACTTGGGACGCTGAGGTGGGAGGATCGCTTGAGCCTGGGAGGCAGAGGTTGCAGTGAGCCAAGGTCATGCTATGAGTAACATTTTGAAGGTCCACTTCTGGGATTCATCCAGGAGCTAAACGGGTCATGTCCAGCCAACTCAGCATTCACCAAGGTACGTTTCCAGA... | ATGCCTGTAATCCTTGCACTTTAGGAGACTGAGGCAGGGGGATCCCTTCAGCCCAGGAGTTCGAGACCAGACTGGGCAATATAGTGGGACCTCGTTTCTACAAAAAATGAAAAAATTAGTGGAGTGTGGTGGCACACTCCAGTGGTCCCAGCTACTTGGGACGCTGAGGTGGGAGGATCGCTTGAGCCTGGGAGGCAGAGGTTGCAGTGAGCCAAGGTCATGCTATGAGTAACATTTTGAAGGTCCACTTCTGGGATTCATCCAGGAGCTAAACGGGTCATGTCCAGCCAACTCAGCATTCACCAAGGTACGTTTCCAGA... | pathogenic | 206,720 |
Is the genetic mutation found on chromosome 13 at position 20188936, within the gene GJB2 (gap junction protein beta 2), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Autosomal_dominant_nonsyndromic_hearing_loss_3A', 'Autosomal_recessive_nonsyndromic_hearing_loss_1A', 'Ichthyosis,_hystrix-like,_with_hearing_loss', 'Knuckle_pads,_deafness_AND_leukonychia_syndrome', 'Mutilating_keratoderma', 'Palmoplantar_keratoderma-deafness_syndrome', 'Rare_genetic_deafness'] | TGTAATCCTTGCACTTTAGGAGACTGAGGCAGGGGGATCCCTTCAGCCCAGGAGTTCGAGACCAGACTGGGCAATATAGTGGGACCTCGTTTCTACAAAAAATGAAAAAATTAGTGGAGTGTGGTGGCACACTCCAGTGGTCCCAGCTACTTGGGACGCTGAGGTGGGAGGATCGCTTGAGCCTGGGAGGCAGAGGTTGCAGTGAGCCAAGGTCATGCTATGAGTAACATTTTGAAGGTCCACTTCTGGGATTCATCCAGGAGCTAAACGGGTCATGTCCAGCCAACTCAGCATTCACCAAGGTACGTTTCCAGACCAAA... | TGTAATCCTTGCACTTTAGGAGACTGAGGCAGGGGGATCCCTTCAGCCCAGGAGTTCGAGACCAGACTGGGCAATATAGTGGGACCTCGTTTCTACAAAAAATGAAAAAATTAGTGGAGTGTGGTGGCACACTCCAGTGGTCCCAGCTACTTGGGACGCTGAGGTGGGAGGATCGCTTGAGCCTGGGAGGCAGAGGTTGCAGTGAGCCAAGGTCATGCTATGAGTAACATTTTGAAGGTCCACTTCTGGGATTCATCCAGGAGCTAAACGGGTCATGTCCAGCCAACTCAGCATTCACCAAGGTACGTTTCCAGACCAAA... | pathogenic | 206,721 |
Clinically, how would you classify the variant at chromosome 13, position 20188948, gene GJB2 (gap junction protein beta 2): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Autosomal_recessive_nonsyndromic_hearing_loss_1A', 'GJB2-related_disorder', 'Hearing_impairment'] | ACTTTAGGAGACTGAGGCAGGGGGATCCCTTCAGCCCAGGAGTTCGAGACCAGACTGGGCAATATAGTGGGACCTCGTTTCTACAAAAAATGAAAAAATTAGTGGAGTGTGGTGGCACACTCCAGTGGTCCCAGCTACTTGGGACGCTGAGGTGGGAGGATCGCTTGAGCCTGGGAGGCAGAGGTTGCAGTGAGCCAAGGTCATGCTATGAGTAACATTTTGAAGGTCCACTTCTGGGATTCATCCAGGAGCTAAACGGGTCATGTCCAGCCAACTCAGCATTCACCAAGGTACGTTTCCAGACCAAACACCACATTGTC... | ACTTTAGGAGACTGAGGCAGGGGGATCCCTTCAGCCCAGGAGTTCGAGACCAGACTGGGCAATATAGTGGGACCTCGTTTCTACAAAAAATGAAAAAATTAGTGGAGTGTGGTGGCACACTCCAGTGGTCCCAGCTACTTGGGACGCTGAGGTGGGAGGATCGCTTGAGCCTGGGAGGCAGAGGTTGCAGTGAGCCAAGGTCATGCTATGAGTAACATTTTGAAGGTCCACTTCTGGGATTCATCCAGGAGCTAAACGGGTCATGTCCAGCCAACTCAGCATTCACCAAGGTACGTTTCCAGACCAAACACCACATTGTC... | pathogenic | 206,723 |
Evaluate if the mutation on chromosome 13 at position 20188976 in GJB2 (gap junction protein beta 2) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Autosomal_dominant_keratitis-ichthyosis-hearing_loss_syndrome', 'Autosomal_dominant_nonsyndromic_hearing_loss_3A', 'Autosomal_recessive_nonsyndromic_hearing_loss_1A', 'Ichthyosis,_hystrix-like,_with_hearing_loss', 'Knuckle_pads,_deafness_AND_leukonychia_syndrome', 'Mutilating_keratoderma', 'Palmoplantar_k... | CTTCAGCCCAGGAGTTCGAGACCAGACTGGGCAATATAGTGGGACCTCGTTTCTACAAAAAATGAAAAAATTAGTGGAGTGTGGTGGCACACTCCAGTGGTCCCAGCTACTTGGGACGCTGAGGTGGGAGGATCGCTTGAGCCTGGGAGGCAGAGGTTGCAGTGAGCCAAGGTCATGCTATGAGTAACATTTTGAAGGTCCACTTCTGGGATTCATCCAGGAGCTAAACGGGTCATGTCCAGCCAACTCAGCATTCACCAAGGTACGTTTCCAGACCAAACACCACATTGTCCATAGACTGATATGCCTCAAAAACCTGG... | CTTCAGCCCAGGAGTTCGAGACCAGACTGGGCAATATAGTGGGACCTCGTTTCTACAAAAAATGAAAAAATTAGTGGAGTGTGGTGGCACACTCCAGTGGTCCCAGCTACTTGGGACGCTGAGGTGGGAGGATCGCTTGAGCCTGGGAGGCAGAGGTTGCAGTGAGCCAAGGTCATGCTATGAGTAACATTTTGAAGGTCCACTTCTGGGATTCATCCAGGAGCTAAACGGGTCATGTCCAGCCAACTCAGCATTCACCAAGGTACGTTTCCAGACCAAACACCACATTGTCCATAGACTGATATGCCTCAAAAACCTGG... | pathogenic | 206,727 |
A genetic variant at chromosome 13, position 20188982, affecting gene GJB2 (gap junction protein beta 2)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Autosomal_recessive_nonsyndromic_hearing_loss_1A', 'Hearing_loss', 'Rare_genetic_deafness'] | CCCAGGAGTTCGAGACCAGACTGGGCAATATAGTGGGACCTCGTTTCTACAAAAAATGAAAAAATTAGTGGAGTGTGGTGGCACACTCCAGTGGTCCCAGCTACTTGGGACGCTGAGGTGGGAGGATCGCTTGAGCCTGGGAGGCAGAGGTTGCAGTGAGCCAAGGTCATGCTATGAGTAACATTTTGAAGGTCCACTTCTGGGATTCATCCAGGAGCTAAACGGGTCATGTCCAGCCAACTCAGCATTCACCAAGGTACGTTTCCAGACCAAACACCACATTGTCCATAGACTGATATGCCTCAAAAACCTGGTAGAGG... | CCCAGGAGTTCGAGACCAGACTGGGCAATATAGTGGGACCTCGTTTCTACAAAAAATGAAAAAATTAGTGGAGTGTGGTGGCACACTCCAGTGGTCCCAGCTACTTGGGACGCTGAGGTGGGAGGATCGCTTGAGCCTGGGAGGCAGAGGTTGCAGTGAGCCAAGGTCATGCTATGAGTAACATTTTGAAGGTCCACTTCTGGGATTCATCCAGGAGCTAAACGGGTCATGTCCAGCCAACTCAGCATTCACCAAGGTACGTTTCCAGACCAAACACCACATTGTCCATAGACTGATATGCCTCAAAAACCTGGTAGAGG... | pathogenic | 206,728 |
Assess the variant on chromosome 13, position 20189005, impacting GJB2 (gap junction protein beta 2): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Autosomal_dominant_keratitis-ichthyosis-hearing_loss_syndrome', 'Autosomal_dominant_nonsyndromic_hearing_loss_3A', 'Autosomal_recessive_nonsyndromic_hearing_loss_1A', 'Ichthyosis,_hystrix-like,_with_hearing_loss', 'Knuckle_pads,_deafness_AND_leukonychia_syndrome', 'Mutilating_keratoderma', 'Nonsyndromic_g... | GGCAATATAGTGGGACCTCGTTTCTACAAAAAATGAAAAAATTAGTGGAGTGTGGTGGCACACTCCAGTGGTCCCAGCTACTTGGGACGCTGAGGTGGGAGGATCGCTTGAGCCTGGGAGGCAGAGGTTGCAGTGAGCCAAGGTCATGCTATGAGTAACATTTTGAAGGTCCACTTCTGGGATTCATCCAGGAGCTAAACGGGTCATGTCCAGCCAACTCAGCATTCACCAAGGTACGTTTCCAGACCAAACACCACATTGTCCATAGACTGATATGCCTCAAAAACCTGGTAGAGGTGGGCACGGGGTTAGGTAGAAAT... | GGCAATATAGTGGGACCTCGTTTCTACAAAAAATGAAAAAATTAGTGGAGTGTGGTGGCACACTCCAGTGGTCCCAGCTACTTGGGACGCTGAGGTGGGAGGATCGCTTGAGCCTGGGAGGCAGAGGTTGCAGTGAGCCAAGGTCATGCTATGAGTAACATTTTGAAGGTCCACTTCTGGGATTCATCCAGGAGCTAAACGGGTCATGTCCAGCCAACTCAGCATTCACCAAGGTACGTTTCCAGACCAAACACCACATTGTCCATAGACTGATATGCCTCAAAAACCTGGTAGAGGTGGGCACGGGGTTAGGTAGAAAT... | pathogenic | 206,734 |
A genetic variant at chromosome 13, position 20189005, affecting gene GJB2 (gap junction protein beta 2)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Autosomal_dominant_nonsyndromic_hearing_loss_3A', 'Autosomal_recessive_nonsyndromic_hearing_loss_1A', 'GJB2-related_disorder'] | GGCAATATAGTGGGACCTCGTTTCTACAAAAAATGAAAAAATTAGTGGAGTGTGGTGGCACACTCCAGTGGTCCCAGCTACTTGGGACGCTGAGGTGGGAGGATCGCTTGAGCCTGGGAGGCAGAGGTTGCAGTGAGCCAAGGTCATGCTATGAGTAACATTTTGAAGGTCCACTTCTGGGATTCATCCAGGAGCTAAACGGGTCATGTCCAGCCAACTCAGCATTCACCAAGGTACGTTTCCAGACCAAACACCACATTGTCCATAGACTGATATGCCTCAAAAACCTGGTAGAGGTGGGCACGGGGTTAGGTAGAAAT... | GGCAATATAGTGGGACCTCGTTTCTACAAAAAATGAAAAAATTAGTGGAGTGTGGTGGCACACTCCAGTGGTCCCAGCTACTTGGGACGCTGAGGTGGGAGGATCGCTTGAGCCTGGGAGGCAGAGGTTGCAGTGAGCCAAGGTCATGCTATGAGTAACATTTTGAAGGTCCACTTCTGGGATTCATCCAGGAGCTAAACGGGTCATGTCCAGCCAACTCAGCATTCACCAAGGTACGTTTCCAGACCAAACACCACATTGTCCATAGACTGATATGCCTCAAAAACCTGGTAGAGGTGGGCACGGGGTTAGGTAGAAAT... | pathogenic | 206,735 |
Is chromosome 13, position 20189016, gene GJB2 (gap junction protein beta 2) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Autosomal_dominant_nonsyndromic_hearing_loss_3A', 'Autosomal_recessive_nonsyndromic_hearing_loss_1A', 'Rare_genetic_deafness'] | GGGACCTCGTTTCTACAAAAAATGAAAAAATTAGTGGAGTGTGGTGGCACACTCCAGTGGTCCCAGCTACTTGGGACGCTGAGGTGGGAGGATCGCTTGAGCCTGGGAGGCAGAGGTTGCAGTGAGCCAAGGTCATGCTATGAGTAACATTTTGAAGGTCCACTTCTGGGATTCATCCAGGAGCTAAACGGGTCATGTCCAGCCAACTCAGCATTCACCAAGGTACGTTTCCAGACCAAACACCACATTGTCCATAGACTGATATGCCTCAAAAACCTGGTAGAGGTGGGCACGGGGTTAGGTAGAAATCATCTTCCTCC... | GGGACCTCGTTTCTACAAAAAATGAAAAAATTAGTGGAGTGTGGTGGCACACTCCAGTGGTCCCAGCTACTTGGGACGCTGAGGTGGGAGGATCGCTTGAGCCTGGGAGGCAGAGGTTGCAGTGAGCCAAGGTCATGCTATGAGTAACATTTTGAAGGTCCACTTCTGGGATTCATCCAGGAGCTAAACGGGTCATGTCCAGCCAACTCAGCATTCACCAAGGTACGTTTCCAGACCAAACACCACATTGTCCATAGACTGATATGCCTCAAAAACCTGGTAGAGGTGGGCACGGGGTTAGGTAGAAATCATCTTCCTCC... | pathogenic | 206,736 |
The chromosome 13, position 20189048 genetic variant in gene GJB2 (gap junction protein beta 2): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Rare_genetic_deafness'] | AGTGGAGTGTGGTGGCACACTCCAGTGGTCCCAGCTACTTGGGACGCTGAGGTGGGAGGATCGCTTGAGCCTGGGAGGCAGAGGTTGCAGTGAGCCAAGGTCATGCTATGAGTAACATTTTGAAGGTCCACTTCTGGGATTCATCCAGGAGCTAAACGGGTCATGTCCAGCCAACTCAGCATTCACCAAGGTACGTTTCCAGACCAAACACCACATTGTCCATAGACTGATATGCCTCAAAAACCTGGTAGAGGTGGGCACGGGGTTAGGTAGAAATCATCTTCCTCCCTTCCTTCCCCACCAAACTTTCTGGTGACAGA... | AGTGGAGTGTGGTGGCACACTCCAGTGGTCCCAGCTACTTGGGACGCTGAGGTGGGAGGATCGCTTGAGCCTGGGAGGCAGAGGTTGCAGTGAGCCAAGGTCATGCTATGAGTAACATTTTGAAGGTCCACTTCTGGGATTCATCCAGGAGCTAAACGGGTCATGTCCAGCCAACTCAGCATTCACCAAGGTACGTTTCCAGACCAAACACCACATTGTCCATAGACTGATATGCCTCAAAAACCTGGTAGAGGTGGGCACGGGGTTAGGTAGAAATCATCTTCCTCCCTTCCTTCCCCACCAAACTTTCTGGTGACAGA... | pathogenic | 206,741 |
Clinically, how would you classify the variant at chromosome 13, position 20189067, gene GJB2 (gap junction protein beta 2): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Autosomal_dominant_nonsyndromic_hearing_loss_3A', 'Autosomal_recessive_nonsyndromic_hearing_loss_1A'] | CTCCAGTGGTCCCAGCTACTTGGGACGCTGAGGTGGGAGGATCGCTTGAGCCTGGGAGGCAGAGGTTGCAGTGAGCCAAGGTCATGCTATGAGTAACATTTTGAAGGTCCACTTCTGGGATTCATCCAGGAGCTAAACGGGTCATGTCCAGCCAACTCAGCATTCACCAAGGTACGTTTCCAGACCAAACACCACATTGTCCATAGACTGATATGCCTCAAAAACCTGGTAGAGGTGGGCACGGGGTTAGGTAGAAATCATCTTCCTCCCTTCCTTCCCCACCAAACTTTCTGGTGACAGAAGCTTTTCTGTAACTGGGG... | CTCCAGTGGTCCCAGCTACTTGGGACGCTGAGGTGGGAGGATCGCTTGAGCCTGGGAGGCAGAGGTTGCAGTGAGCCAAGGTCATGCTATGAGTAACATTTTGAAGGTCCACTTCTGGGATTCATCCAGGAGCTAAACGGGTCATGTCCAGCCAACTCAGCATTCACCAAGGTACGTTTCCAGACCAAACACCACATTGTCCATAGACTGATATGCCTCAAAAACCTGGTAGAGGTGGGCACGGGGTTAGGTAGAAATCATCTTCCTCCCTTCCTTCCCCACCAAACTTTCTGGTGACAGAAGCTTTTCTGTAACTGGGG... | pathogenic | 206,747 |
Evaluate if the mutation on chromosome 13 at position 20189070 in GJB2 (gap junction protein beta 2) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Autosomal_dominant_keratitis-ichthyosis-hearing_loss_syndrome', 'Autosomal_dominant_nonsyndromic_hearing_loss_3A', 'Autosomal_recessive_nonsyndromic_hearing_loss_1A', 'Ear_malformation', 'GJB2-related_disorder', 'Ichthyosis,_hystrix-like,_with_hearing_loss', 'Knuckle_pads,_deafness_AND_leukonychia_syndrom... | CAGTGGTCCCAGCTACTTGGGACGCTGAGGTGGGAGGATCGCTTGAGCCTGGGAGGCAGAGGTTGCAGTGAGCCAAGGTCATGCTATGAGTAACATTTTGAAGGTCCACTTCTGGGATTCATCCAGGAGCTAAACGGGTCATGTCCAGCCAACTCAGCATTCACCAAGGTACGTTTCCAGACCAAACACCACATTGTCCATAGACTGATATGCCTCAAAAACCTGGTAGAGGTGGGCACGGGGTTAGGTAGAAATCATCTTCCTCCCTTCCTTCCCCACCAAACTTTCTGGTGACAGAAGCTTTTCTGTAACTGGGGCAG... | CAGTGGTCCCAGCTACTTGGGACGCTGAGGTGGGAGGATCGCTTGAGCCTGGGAGGCAGAGGTTGCAGTGAGCCAAGGTCATGCTATGAGTAACATTTTGAAGGTCCACTTCTGGGATTCATCCAGGAGCTAAACGGGTCATGTCCAGCCAACTCAGCATTCACCAAGGTACGTTTCCAGACCAAACACCACATTGTCCATAGACTGATATGCCTCAAAAACCTGGTAGAGGTGGGCACGGGGTTAGGTAGAAATCATCTTCCTCCCTTCCTTCCCCACCAAACTTTCTGGTGACAGAAGCTTTTCTGTAACTGGGGCAG... | pathogenic | 206,748 |
Mutation found at chromosome 13 position 20189174, gene GJB2 (gap junction protein beta 2): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic | TCCACTTCTGGGATTCATCCAGGAGCTAAACGGGTCATGTCCAGCCAACTCAGCATTCACCAAGGTACGTTTCCAGACCAAACACCACATTGTCCATAGACTGATATGCCTCAAAAACCTGGTAGAGGTGGGCACGGGGTTAGGTAGAAATCATCTTCCTCCCTTCCTTCCCCACCAAACTTTCTGGTGACAGAAGCTTTTCTGTAACTGGGGCAGAATGGGGTCAGACACTCTGGCAACTTACCCATTGGTGTTATGAAATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGAAATTAAAATTTGCTGTTCT... | TCCACTTCTGGGATTCATCCAGGAGCTAAACGGGTCATGTCCAGCCAACTCAGCATTCACCAAGGTACGTTTCCAGACCAAACACCACATTGTCCATAGACTGATATGCCTCAAAAACCTGGTAGAGGTGGGCACGGGGTTAGGTAGAAATCATCTTCCTCCCTTCCTTCCCCACCAAACTTTCTGGTGACAGAAGCTTTTCTGTAACTGGGGCAGAATGGGGTCAGACACTCTGGCAACTTACCCATTGGTGTTATGAAATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGAAATTAAAATTTGCTGTTCT... | pathogenic | 206,763 |
Regarding the variant at chromosome 13 and position 20189221, affecting gene GJB2 (gap junction protein beta 2): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Autosomal_dominant_keratitis-ichthyosis-hearing_loss_syndrome', 'Autosomal_dominant_nonsyndromic_hearing_loss_3A', 'Autosomal_recessive_nonsyndromic_hearing_loss_1A', 'Hearing_impairment', 'Hearing_loss', 'Ichthyosis,_hystrix-like,_with_hearing_loss', 'Knuckle_pads,_deafness_AND_leukonychia_syndrome', 'Mu... | ACTCAGCATTCACCAAGGTACGTTTCCAGACCAAACACCACATTGTCCATAGACTGATATGCCTCAAAAACCTGGTAGAGGTGGGCACGGGGTTAGGTAGAAATCATCTTCCTCCCTTCCTTCCCCACCAAACTTTCTGGTGACAGAAGCTTTTCTGTAACTGGGGCAGAATGGGGTCAGACACTCTGGCAACTTACCCATTGGTGTTATGAAATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGAAATTAAAATTTGCTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAA... | ACTCAGCATTCACCAAGGTACGTTTCCAGACCAAACACCACATTGTCCATAGACTGATATGCCTCAAAAACCTGGTAGAGGTGGGCACGGGGTTAGGTAGAAATCATCTTCCTCCCTTCCTTCCCCACCAAACTTTCTGGTGACAGAAGCTTTTCTGTAACTGGGGCAGAATGGGGTCAGACACTCTGGCAACTTACCCATTGGTGTTATGAAATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGAAATTAAAATTTGCTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAA... | pathogenic | 206,775 |
Regarding the variant found on chromosome 13 at position 20189246 in gene GJB2 (gap junction protein beta 2): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Autosomal_dominant_keratitis-ichthyosis-hearing_loss_syndrome', 'Autosomal_dominant_nonsyndromic_hearing_loss_3A', 'Autosomal_recessive_nonsyndromic_hearing_loss_1A', 'Hearing_loss', 'Ichthyosis,_hystrix-like,_with_hearing_loss', 'Knuckle_pads,_deafness_AND_leukonychia_syndrome', 'Mutilating_keratoderma',... | CCAGACCAAACACCACATTGTCCATAGACTGATATGCCTCAAAAACCTGGTAGAGGTGGGCACGGGGTTAGGTAGAAATCATCTTCCTCCCTTCCTTCCCCACCAAACTTTCTGGTGACAGAAGCTTTTCTGTAACTGGGGCAGAATGGGGTCAGACACTCTGGCAACTTACCCATTGGTGTTATGAAATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGAAATTAAAATTTGCTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTA... | CCAGACCAAACACCACATTGTCCATAGACTGATATGCCTCAAAAACCTGGTAGAGGTGGGCACGGGGTTAGGTAGAAATCATCTTCCTCCCTTCCTTCCCCACCAAACTTTCTGGTGACAGAAGCTTTTCTGTAACTGGGGCAGAATGGGGTCAGACACTCTGGCAACTTACCCATTGGTGTTATGAAATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGAAATTAAAATTTGCTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTA... | pathogenic | 206,777 |
Variant chromosome 13, position 20189254, gene GJB2 (gap junction protein beta 2): benign or pathogenic? Disease(s)? | pathogenic; ['Autosomal_recessive_nonsyndromic_hearing_loss_1A'] | AACACCACATTGTCCATAGACTGATATGCCTCAAAAACCTGGTAGAGGTGGGCACGGGGTTAGGTAGAAATCATCTTCCTCCCTTCCTTCCCCACCAAACTTTCTGGTGACAGAAGCTTTTCTGTAACTGGGGCAGAATGGGGTCAGACACTCTGGCAACTTACCCATTGGTGTTATGAAATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGAAATTAAAATTTGCTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTA... | AACACCACATTGTCCATAGACTGATATGCCTCAAAAACCTGGTAGAGGTGGGCACGGGGTTAGGTAGAAATCATCTTCCTCCCTTCCTTCCCCACCAAACTTTCTGGTGACAGAAGCTTTTCTGTAACTGGGGCAGAATGGGGTCAGACACTCTGGCAACTTACCCATTGGTGTTATGAAATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGAAATTAAAATTTGCTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTA... | pathogenic | 206,778 |
Clinical impact (benign or pathogenic) of the variant at chromosome 13, location 20189255, gene GJB2 (gap junction protein beta 2): what disease(s) if pathogenic? | pathogenic; ['Autosomal_dominant_keratitis-ichthyosis-hearing_loss_syndrome', 'Autosomal_dominant_nonsyndromic_hearing_loss_3A', 'Autosomal_recessive_nonsyndromic_hearing_loss_1A', 'Autosomal_recessive_nonsyndromic_hearing_loss_1B', 'Hearing_impairment', 'Hearing_loss', 'Ichthyosis,_hystrix-like,_with_hearing_loss', 'K... | ACACCACATTGTCCATAGACTGATATGCCTCAAAAACCTGGTAGAGGTGGGCACGGGGTTAGGTAGAAATCATCTTCCTCCCTTCCTTCCCCACCAAACTTTCTGGTGACAGAAGCTTTTCTGTAACTGGGGCAGAATGGGGTCAGACACTCTGGCAACTTACCCATTGGTGTTATGAAATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGAAATTAAAATTTGCTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTAT... | ACACCACATTGTCCATAGACTGATATGCCTCAAAAACCTGGTAGAGGTGGGCACGGGGTTAGGTAGAAATCATCTTCCTCCCTTCCTTCCCCACCAAACTTTCTGGTGACAGAAGCTTTTCTGTAACTGGGGCAGAATGGGGTCAGACACTCTGGCAACTTACCCATTGGTGTTATGAAATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGAAATTAAAATTTGCTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTAT... | pathogenic | 206,779 |
Chromosome 13, position 20189281, gene GJB2 (gap junction protein beta 2): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Autism_spectrum_disorder', 'Autosomal_dominant_keratitis-ichthyosis-hearing_loss_syndrome', 'Autosomal_dominant_nonsyndromic_hearing_loss_3A', 'Autosomal_recessive_nonsyndromic_hearing_loss_1A', 'Autosomal_recessive_nonsyndromic_hearing_loss_1B', 'CREBBP-related_disorder', 'Ichthyosis,_hystrix-like,_with_... | GCCTCAAAAACCTGGTAGAGGTGGGCACGGGGTTAGGTAGAAATCATCTTCCTCCCTTCCTTCCCCACCAAACTTTCTGGTGACAGAAGCTTTTCTGTAACTGGGGCAGAATGGGGTCAGACACTCTGGCAACTTACCCATTGGTGTTATGAAATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGAAATTAAAATTTGCTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGC... | GCCTCAAAAACCTGGTAGAGGTGGGCACGGGGTTAGGTAGAAATCATCTTCCTCCCTTCCTTCCCCACCAAACTTTCTGGTGACAGAAGCTTTTCTGTAACTGGGGCAGAATGGGGTCAGACACTCTGGCAACTTACCCATTGGTGTTATGAAATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGAAATTAAAATTTGCTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGC... | pathogenic | 206,781 |
Variant in gene GJB2 (gap junction protein beta 2), located at chromosome 13 position 20189283: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Autosomal_recessive_nonsyndromic_hearing_loss_1A'] | CTCAAAAACCTGGTAGAGGTGGGCACGGGGTTAGGTAGAAATCATCTTCCTCCCTTCCTTCCCCACCAAACTTTCTGGTGACAGAAGCTTTTCTGTAACTGGGGCAGAATGGGGTCAGACACTCTGGCAACTTACCCATTGGTGTTATGAAATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGAAATTAAAATTTGCTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTA... | CTCAAAAACCTGGTAGAGGTGGGCACGGGGTTAGGTAGAAATCATCTTCCTCCCTTCCTTCCCCACCAAACTTTCTGGTGACAGAAGCTTTTCTGTAACTGGGGCAGAATGGGGTCAGACACTCTGGCAACTTACCCATTGGTGTTATGAAATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGAAATTAAAATTTGCTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTA... | pathogenic | 206,783 |
Clinical classification of chromosome 13, position 20189291, gene GJB2 (gap junction protein beta 2): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Autosomal_dominant_keratitis-ichthyosis-hearing_loss_syndrome', 'Autosomal_dominant_nonsyndromic_hearing_loss_3A', 'Autosomal_recessive_nonsyndromic_hearing_loss_1A', 'Ichthyosis,_hystrix-like,_with_hearing_loss', 'Inborn_genetic_diseases', 'Knuckle_pads,_deafness_AND_leukonychia_syndrome', 'Mutilating_ke... | CCTGGTAGAGGTGGGCACGGGGTTAGGTAGAAATCATCTTCCTCCCTTCCTTCCCCACCAAACTTTCTGGTGACAGAAGCTTTTCTGTAACTGGGGCAGAATGGGGTCAGACACTCTGGCAACTTACCCATTGGTGTTATGAAATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGAAATTAAAATTTGCTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTAT... | CCTGGTAGAGGTGGGCACGGGGTTAGGTAGAAATCATCTTCCTCCCTTCCTTCCCCACCAAACTTTCTGGTGACAGAAGCTTTTCTGTAACTGGGGCAGAATGGGGTCAGACACTCTGGCAACTTACCCATTGGTGTTATGAAATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGAAATTAAAATTTGCTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTAT... | pathogenic | 206,786 |
Evaluate the clinical significance of the mutation at chromosome 13, position 20189312 in gene GJB2 (gap junction protein beta 2): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Autosomal_dominant_keratitis-ichthyosis-hearing_loss_syndrome', 'Autosomal_dominant_nonsyndromic_hearing_loss_3A', 'Autosomal_recessive_nonsyndromic_hearing_loss_1A', 'Hearing_loss', 'Ichthyosis,_hystrix-like,_with_hearing_loss', 'Knuckle_pads,_deafness_AND_leukonychia_syndrome', 'Mutilating_keratoderma',... | GTTAGGTAGAAATCATCTTCCTCCCTTCCTTCCCCACCAAACTTTCTGGTGACAGAAGCTTTTCTGTAACTGGGGCAGAATGGGGTCAGACACTCTGGCAACTTACCCATTGGTGTTATGAAATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGAAATTAAAATTTGCTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAA... | GTTAGGTAGAAATCATCTTCCTCCCTTCCTTCCCCACCAAACTTTCTGGTGACAGAAGCTTTTCTGTAACTGGGGCAGAATGGGGTCAGACACTCTGGCAACTTACCCATTGGTGTTATGAAATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGAAATTAAAATTTGCTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAA... | pathogenic | 206,790 |
Is chromosome 13, position 20189342, gene GJB2 (gap junction protein beta 2) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Autosomal_recessive_nonsyndromic_hearing_loss_1A'] | TCCCCACCAAACTTTCTGGTGACAGAAGCTTTTCTGTAACTGGGGCAGAATGGGGTCAGACACTCTGGCAACTTACCCATTGGTGTTATGAAATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGAAATTAAAATTTGCTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGAAAATACTTAC... | TCCCCACCAAACTTTCTGGTGACAGAAGCTTTTCTGTAACTGGGGCAGAATGGGGTCAGACACTCTGGCAACTTACCCATTGGTGTTATGAAATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGAAATTAAAATTTGCTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGAAAATACTTAC... | pathogenic | 206,801 |
A mutation at chromosome position 20189346 on chromosome 13 in gene GJB2 (gap junction protein beta 2): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Autism_spectrum_disorder', 'Autosomal_dominant_keratitis-ichthyosis-hearing_loss_syndrome', 'Autosomal_dominant_nonsyndromic_hearing_loss_3A', 'Autosomal_recessive_nonsyndromic_hearing_loss_1A', 'Autosomal_recessive_nonsyndromic_hearing_loss_1B', 'Deafness,_digenic,_GJB2/GJB3', 'GJB2-related_disorder', 'H... | CACCAAACTTTCTGGTGACAGAAGCTTTTCTGTAACTGGGGCAGAATGGGGTCAGACACTCTGGCAACTTACCCATTGGTGTTATGAAATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGAAATTAAAATTTGCTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGAAAATACTTACCCTC... | CACCAAACTTTCTGGTGACAGAAGCTTTTCTGTAACTGGGGCAGAATGGGGTCAGACACTCTGGCAACTTACCCATTGGTGTTATGAAATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGAAATTAAAATTTGCTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGAAAATACTTACCCTC... | pathogenic | 206,804 |
Does the genetic variant at chromosome 13, position 20189349, impacting gene GJB2 (gap junction protein beta 2), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Autosomal_recessive_nonsyndromic_hearing_loss_1A', 'Nonsyndromic_genetic_hearing_loss'] | CAAACTTTCTGGTGACAGAAGCTTTTCTGTAACTGGGGCAGAATGGGGTCAGACACTCTGGCAACTTACCCATTGGTGTTATGAAATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGAAATTAAAATTTGCTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGAAAATACTTACCCTCACT... | CAAACTTTCTGGTGACAGAAGCTTTTCTGTAACTGGGGCAGAATGGGGTCAGACACTCTGGCAACTTACCCATTGGTGTTATGAAATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGAAATTAAAATTTGCTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGAAAATACTTACCCTCACT... | pathogenic | 206,805 |
Benign or pathogenic: chromosome 13, position 20189390, gene GJB2 (gap junction protein beta 2) variant? Disease(s) if pathogenic? | pathogenic; ['Autosomal_dominant_keratitis-ichthyosis-hearing_loss_syndrome', 'Autosomal_dominant_nonsyndromic_hearing_loss_3A', 'Autosomal_recessive_nonsyndromic_hearing_loss_1A', 'Ichthyosis,_hystrix-like,_with_hearing_loss', 'Knuckle_pads,_deafness_AND_leukonychia_syndrome', 'Mutilating_keratoderma', 'Palmoplantar_k... | AATGGGGTCAGACACTCTGGCAACTTACCCATTGGTGTTATGAAATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGAAATTAAAATTTGCTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGAAAATACTTACCCTCACTGAAATATGTGGAGTACCATTTTTTGGAAACCATGTCAAGCA... | AATGGGGTCAGACACTCTGGCAACTTACCCATTGGTGTTATGAAATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGAAATTAAAATTTGCTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGAAAATACTTACCCTCACTGAAATATGTGGAGTACCATTTTTTGGAAACCATGTCAAGCA... | pathogenic | 206,817 |
The chromosome 13, position 20189414 genetic variant in gene GJB2 (gap junction protein beta 2): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Autosomal_dominant_keratitis-ichthyosis-hearing_loss_syndrome', 'Autosomal_dominant_nonsyndromic_hearing_loss_3A', 'Autosomal_recessive_nonsyndromic_hearing_loss_1A', 'Autosomal_recessive_nonsyndromic_hearing_loss_1B', 'GJB2-related_disorder', 'Hearing_impairment', 'Hearing_loss', 'Ichthyosis,_hystrix-lik... | TTACCCATTGGTGTTATGAAATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGAAATTAAAATTTGCTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGAAAATACTTACCCTCACTGAAATATGTGGAGTACCATTTTTTGGAAACCATGTCAAGCATAATGGCAATATTCAGGTTCAATC... | TTACCCATTGGTGTTATGAAATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGAAATTAAAATTTGCTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGAAAATACTTACCCTCACTGAAATATGTGGAGTACCATTTTTTGGAAACCATGTCAAGCATAATGGCAATATTCAGGTTCAATC... | pathogenic | 206,821 |
Evaluate if the mutation on chromosome 13 at position 20189423 in GJB2 (gap junction protein beta 2) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Autosomal_dominant_keratitis-ichthyosis-hearing_loss_syndrome', 'Autosomal_dominant_nonsyndromic_hearing_loss_3A', 'Autosomal_recessive_nonsyndromic_hearing_loss_1A', 'Ichthyosis,_hystrix-like,_with_hearing_loss', 'Knuckle_pads,_deafness_AND_leukonychia_syndrome', 'Mutilating_keratoderma', 'Palmoplantar_k... | GGTGTTATGAAATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGAAATTAAAATTTGCTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGAAAATACTTACCCTCACTGAAATATGTGGAGTACCATTTTTTGGAAACCATGTCAAGCATAATGGCAATATTCAGGTTCAATCTTCCTATAG... | GGTGTTATGAAATATAAAACATTAATGTATTTATATAAAAAGTGATAGATGAAATTAAAATTTGCTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGAAAATACTTACCCTCACTGAAATATGTGGAGTACCATTTTTTGGAAACCATGTCAAGCATAATGGCAATATTCAGGTTCAATCTTCCTATAG... | pathogenic | 206,822 |
Variant in gene GJB2 (gap junction protein beta 2), located at chromosome 13 position 20189454: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Autosomal_dominant_keratitis-ichthyosis-hearing_loss_syndrome', 'Autosomal_dominant_nonsyndromic_hearing_loss_3A', 'Autosomal_recessive_nonsyndromic_hearing_loss_1A', 'Ichthyosis,_hystrix-like,_with_hearing_loss', 'Knuckle_pads,_deafness_AND_leukonychia_syndrome', 'Mutilating_keratoderma', 'Nonsyndromic_g... | TATATAAAAAGTGATAGATGAAATTAAAATTTGCTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGAAAATACTTACCCTCACTGAAATATGTGGAGTACCATTTTTTGGAAACCATGTCAAGCATAATGGCAATATTCAGGTTCAATCTTCCTATAGATCTGCTCAATATTTATCTAAACCTTAGCTT... | TATATAAAAAGTGATAGATGAAATTAAAATTTGCTGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGAAAATACTTACCCTCACTGAAATATGTGGAGTACCATTTTTTGGAAACCATGTCAAGCATAATGGCAATATTCAGGTTCAATCTTCCTATAGATCTGCTCAATATTTATCTAAACCTTAGCTT... | pathogenic | 206,828 |
Is the genetic variant on chromosome 13, position 20189488, gene GJB2 (gap junction protein beta 2), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic | TGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGAAAATACTTACCCTCACTGAAATATGTGGAGTACCATTTTTTGGAAACCATGTCAAGCATAATGGCAATATTCAGGTTCAATCTTCCTATAGATCTGCTCAATATTTATCTAAACCTTAGCTTCTATTCTTTTCACATGTTATTAGCTATATTTTCA... | TGTTCTATTAAAACCATATTAGATTTTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGAAAATACTTACCCTCACTGAAATATGTGGAGTACCATTTTTTGGAAACCATGTCAAGCATAATGGCAATATTCAGGTTCAATCTTCCTATAGATCTGCTCAATATTTATCTAAACCTTAGCTTCTATTCTTTTCACATGTTATTAGCTATATTTTCA... | pathogenic | 206,840 |
Clinical significance of chromosome 13, position 20189513, gene GJB2 (gap junction protein beta 2): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Autosomal_dominant_nonsyndromic_hearing_loss_3A', 'Autosomal_recessive_nonsyndromic_hearing_loss_1A', 'GJB2-related_disorder', 'Nonsyndromic_genetic_hearing_loss', 'Rare_genetic_deafness'] | TTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGAAAATACTTACCCTCACTGAAATATGTGGAGTACCATTTTTTGGAAACCATGTCAAGCATAATGGCAATATTCAGGTTCAATCTTCCTATAGATCTGCTCAATATTTATCTAAACCTTAGCTTCTATTCTTTTCACATGTTATTAGCTATATTTTCACTTAAAAAATTGGAGGCTGAAGGGG... | TTAAATTATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGAAAATACTTACCCTCACTGAAATATGTGGAGTACCATTTTTTGGAAACCATGTCAAGCATAATGGCAATATTCAGGTTCAATCTTCCTATAGATCTGCTCAATATTTATCTAAACCTTAGCTTCTATTCTTTTCACATGTTATTAGCTATATTTTCACTTAAAAAATTGGAGGCTGAAGGGG... | pathogenic | 206,845 |
Clinical significance of chromosome 13, position 20189520, gene GJB2 (gap junction protein beta 2): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Autosomal_dominant_keratitis-ichthyosis-hearing_loss_syndrome', 'Autosomal_dominant_nonsyndromic_hearing_loss_3A', 'Autosomal_recessive_nonsyndromic_hearing_loss_1A', 'Ichthyosis,_hystrix-like,_with_hearing_loss', 'Knuckle_pads,_deafness_AND_leukonychia_syndrome', 'Mutilating_keratoderma', 'Palmoplantar_k... | ATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGAAAATACTTACCCTCACTGAAATATGTGGAGTACCATTTTTTGGAAACCATGTCAAGCATAATGGCAATATTCAGGTTCAATCTTCCTATAGATCTGCTCAATATTTATCTAAACCTTAGCTTCTATTCTTTTCACATGTTATTAGCTATATTTTCACTTAAAAAATTGGAGGCTGAAGGGGTAAGCAA... | ATTATAGAGATTATATTTTAATGTTTTAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGAAAATACTTACCCTCACTGAAATATGTGGAGTACCATTTTTTGGAAACCATGTCAAGCATAATGGCAATATTCAGGTTCAATCTTCCTATAGATCTGCTCAATATTTATCTAAACCTTAGCTTCTATTCTTTTCACATGTTATTAGCTATATTTTCACTTAAAAAATTGGAGGCTGAAGGGGTAAGCAA... | pathogenic | 206,846 |
Is the genetic change at chromosome 13, position 20189546, within gene GJB2 (gap junction protein beta 2) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Autosomal_recessive_nonsyndromic_hearing_loss_1A', 'Hearing_impairment', 'Hearing_loss', 'Rare_genetic_deafness'] | TAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGAAAATACTTACCCTCACTGAAATATGTGGAGTACCATTTTTTGGAAACCATGTCAAGCATAATGGCAATATTCAGGTTCAATCTTCCTATAGATCTGCTCAATATTTATCTAAACCTTAGCTTCTATTCTTTTCACATGTTATTAGCTATATTTTCACTTAAAAAATTGGAGGCTGAAGGGGTAAGCAAACAAACTTTTGAAGTAGACAAAGCTC... | TAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGAAAATACTTACCCTCACTGAAATATGTGGAGTACCATTTTTTGGAAACCATGTCAAGCATAATGGCAATATTCAGGTTCAATCTTCCTATAGATCTGCTCAATATTTATCTAAACCTTAGCTTCTATTCTTTTCACATGTTATTAGCTATATTTTCACTTAAAAAATTGGAGGCTGAAGGGGTAAGCAAACAAACTTTTGAAGTAGACAAAGCTC... | pathogenic | 206,851 |
Is chromosome 13, position 20189546, gene GJB2 (gap junction protein beta 2) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Autosomal_dominant_keratitis-ichthyosis-hearing_loss_syndrome', 'Autosomal_dominant_nonsyndromic_hearing_loss_3A', 'Autosomal_recessive_nonsyndromic_hearing_loss_104', 'Autosomal_recessive_nonsyndromic_hearing_loss_1A', 'Autosomal_recessive_nonsyndromic_hearing_loss_1B', 'Bilateral_conductive_hearing_impa... | TAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGAAAATACTTACCCTCACTGAAATATGTGGAGTACCATTTTTTGGAAACCATGTCAAGCATAATGGCAATATTCAGGTTCAATCTTCCTATAGATCTGCTCAATATTTATCTAAACCTTAGCTTCTATTCTTTTCACATGTTATTAGCTATATTTTCACTTAAAAAATTGGAGGCTGAAGGGGTAAGCAAACAAACTTTTGAAGTAGACAAAGCTC... | TAAATGTATTTGATACATTACAAAATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGAAAATACTTACCCTCACTGAAATATGTGGAGTACCATTTTTTGGAAACCATGTCAAGCATAATGGCAATATTCAGGTTCAATCTTCCTATAGATCTGCTCAATATTTATCTAAACCTTAGCTTCTATTCTTTTCACATGTTATTAGCTATATTTTCACTTAAAAAATTGGAGGCTGAAGGGGTAAGCAAACAAACTTTTGAAGTAGACAAAGCTC... | pathogenic | 206,852 |
Gene GJB2 (gap junction protein beta 2) variant at chromosome 13, position 20189570—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Autosomal_recessive_nonsyndromic_hearing_loss_1A', 'likely other unspecified diseases'] | ATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGAAAATACTTACCCTCACTGAAATATGTGGAGTACCATTTTTTGGAAACCATGTCAAGCATAATGGCAATATTCAGGTTCAATCTTCCTATAGATCTGCTCAATATTTATCTAAACCTTAGCTTCTATTCTTTTCACATGTTATTAGCTATATTTTCACTTAAAAAATTGGAGGCTGAAGGGGTAAGCAAACAAACTTTTGAAGTAGACAAAGCTCATCTTTAATCAACAGACTTTAGAG... | ATTATTTTAGTTACAAGCATATCATTAAAGCTATTCTTTATTATTACAAAATGCTTTTACAATGCTATTCTTGACAACAGGAAAATACTTACCCTCACTGAAATATGTGGAGTACCATTTTTTGGAAACCATGTCAAGCATAATGGCAATATTCAGGTTCAATCTTCCTATAGATCTGCTCAATATTTATCTAAACCTTAGCTTCTATTCTTTTCACATGTTATTAGCTATATTTTCACTTAAAAAATTGGAGGCTGAAGGGGTAAGCAAACAAACTTTTGAAGTAGACAAAGCTCATCTTTAATCAACAGACTTTAGAG... | pathogenic | 206,858 |
A genetic variant on chromosome 13, position 20222467, affects the gene GJB6 (gap junction protein beta 6). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | benign | CTAGAAGAATATGTTCTAGAGATCTTCTGCACAGCATCCTGCCCGTAGTGAACAATATGTATTGCACACTTCAAAATACGTTAAGAGGACAGTTCTCATGTTAAATGTTCTTACTGCAAAAAACAATGCAACACAGGGGCCTTTTGGAGGTGATGGGTATGTTTATTACCCTGATTGTTGTGCTGGGTATCCCGGGTGTTTCCATAGGTCCAAACCCATCAAATTAGGCACTTTAAATATGTGCAGTTCTGTGTATATCCATTTTACCTCAGTTTGTTGTTTAAAAAAGGAGAGAGAGAATGGAGTGGCCAACTGCAGCA... | CTAGAAGAATATGTTCTAGAGATCTTCTGCACAGCATCCTGCCCGTAGTGAACAATATGTATTGCACACTTCAAAATACGTTAAGAGGACAGTTCTCATGTTAAATGTTCTTACTGCAAAAAACAATGCAACACAGGGGCCTTTTGGAGGTGATGGGTATGTTTATTACCCTGATTGTTGTGCTGGGTATCCCGGGTGTTTCCATAGGTCCAAACCCATCAAATTAGGCACTTTAAATATGTGCAGTTCTGTGTATATCCATTTTACCTCAGTTTGTTGTTTAAAAAAGGAGAGAGAGAATGGAGTGGCCAACTGCAGCA... | benign | 206,874 |
Regarding the variant at chromosome 13 and position 23203780, affecting gene SGCG (sarcoglycan gamma): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy', 'Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2C'] | GGAATATGTAGAAATAGAAATATACTCACATGTGTTCTTAGAAAACTTTGCTAGTTGTATTCACCTGTAGCAATATTGTAAGTCTGTGCTTGCTTTTGGTTCAGACTCCCTGGCCACCCTTCCCCATCCAATTGCACTCTCCTAGTCTGTCCTTTATAGGAATTCTGGAGCCATTATTTCAAATGATAAGCACTTTGGAATCAATATAATAGAGGGAAGAGGTTGAGAGTGACTGCGTGTCCAGAGAGGGAGGCTGCTTTGAGGAGATGGCATGTGTGCTGCTACTGAAAGATGAGCAGGACCAGCAGGGGCAGACCAAG... | GGAATATGTAGAAATAGAAATATACTCACATGTGTTCTTAGAAAACTTTGCTAGTTGTATTCACCTGTAGCAATATTGTAAGTCTGTGCTTGCTTTTGGTTCAGACTCCCTGGCCACCCTTCCCCATCCAATTGCACTCTCCTAGTCTGTCCTTTATAGGAATTCTGGAGCCATTATTTCAAATGATAAGCACTTTGGAATCAATATAATAGAGGGAAGAGGTTGAGAGTGACTGCGTGTCCAGAGAGGGAGGCTGCTTTGAGGAGATGGCATGTGTGCTGCTACTGAAAGATGAGCAGGACCAGCAGGGGCAGACCAAG... | pathogenic | 206,964 |
Does the variant on chromosome 13 at location 23203868 affecting gene SGCG (sarcoglycan gamma) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2C'] | CTTGCTTTTGGTTCAGACTCCCTGGCCACCCTTCCCCATCCAATTGCACTCTCCTAGTCTGTCCTTTATAGGAATTCTGGAGCCATTATTTCAAATGATAAGCACTTTGGAATCAATATAATAGAGGGAAGAGGTTGAGAGTGACTGCGTGTCCAGAGAGGGAGGCTGCTTTGAGGAGATGGCATGTGTGCTGCTACTGAAAGATGAGCAGGACCAGCAGGGGCAGACCAAGTCCAGGACAAAGGTCCTGGGGTGAGAATTAGCCTGGTCTGTTGAAGAGTATCTACTCTTTGCTTCAGTCTTGTGAGCAAAGGACACAG... | CTTGCTTTTGGTTCAGACTCCCTGGCCACCCTTCCCCATCCAATTGCACTCTCCTAGTCTGTCCTTTATAGGAATTCTGGAGCCATTATTTCAAATGATAAGCACTTTGGAATCAATATAATAGAGGGAAGAGGTTGAGAGTGACTGCGTGTCCAGAGAGGGAGGCTGCTTTGAGGAGATGGCATGTGTGCTGCTACTGAAAGATGAGCAGGACCAGCAGGGGCAGACCAAGTCCAGGACAAAGGTCCTGGGGTGAGAATTAGCCTGGTCTGTTGAAGAGTATCTACTCTTTGCTTCAGTCTTGTGAGCAAAGGACACAG... | pathogenic | 206,970 |
Variant in gene SGCG (sarcoglycan gamma), located at chromosome 13 position 23203888: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2C'] | CCTGGCCACCCTTCCCCATCCAATTGCACTCTCCTAGTCTGTCCTTTATAGGAATTCTGGAGCCATTATTTCAAATGATAAGCACTTTGGAATCAATATAATAGAGGGAAGAGGTTGAGAGTGACTGCGTGTCCAGAGAGGGAGGCTGCTTTGAGGAGATGGCATGTGTGCTGCTACTGAAAGATGAGCAGGACCAGCAGGGGCAGACCAAGTCCAGGACAAAGGTCCTGGGGTGAGAATTAGCCTGGTCTGTTGAAGAGTATCTACTCTTTGCTTCAGTCTTGTGAGCAAAGGACACAGTGGTAGTAGATGAAGCCAAA... | CCTGGCCACCCTTCCCCATCCAATTGCACTCTCCTAGTCTGTCCTTTATAGGAATTCTGGAGCCATTATTTCAAATGATAAGCACTTTGGAATCAATATAATAGAGGGAAGAGGTTGAGAGTGACTGCGTGTCCAGAGAGGGAGGCTGCTTTGAGGAGATGGCATGTGTGCTGCTACTGAAAGATGAGCAGGACCAGCAGGGGCAGACCAAGTCCAGGACAAAGGTCCTGGGGTGAGAATTAGCCTGGTCTGTTGAAGAGTATCTACTCTTTGCTTCAGTCTTGTGAGCAAAGGACACAGTGGTAGTAGATGAAGCCAAA... | pathogenic | 206,972 |
Classify the chromosome 13 variant at position 23234593 affecting gene SGCG (sarcoglycan gamma) as benign or pathogenic. If pathogenic, which disease(s) is associated? | benign | GGCTGAAGTGAGCGGATCATGAGGTCAGGAGATCAAGACCATCCTGGCTAACACGGTGAAACCCTGTCTCTATTAAAAATACAAAAAATTAGCCAGGCGTGGTGGCAGGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGTGTGAACCCAGGAGGCGGAGCTTGCAGTGAGCTGAGATCACGTCACTGCACTCCAGCCTGGGCGACAGTACAAGACTCCATCTCAAAAAAAAGACAGTCAGAAGGGGAGGACAGTTAGGCAATCAGATATATGGGTATGAAGCTCAGAACAGACTATTTAAAATAAA... | GGCTGAAGTGAGCGGATCATGAGGTCAGGAGATCAAGACCATCCTGGCTAACACGGTGAAACCCTGTCTCTATTAAAAATACAAAAAATTAGCCAGGCGTGGTGGCAGGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGTGTGAACCCAGGAGGCGGAGCTTGCAGTGAGCTGAGATCACGTCACTGCACTCCAGCCTGGGCGACAGTACAAGACTCCATCTCAAAAAAAAGACAGTCAGAAGGGGAGGACAGTTAGGCAATCAGATATATGGGTATGAAGCTCAGAACAGACTATTTAAAATAAA... | benign | 206,974 |
Evaluate the clinical significance of the mutation at chromosome 13, position 23234593 in gene SGCG (sarcoglycan gamma): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | benign | GGCTGAAGTGAGCGGATCATGAGGTCAGGAGATCAAGACCATCCTGGCTAACACGGTGAAACCCTGTCTCTATTAAAAATACAAAAAATTAGCCAGGCGTGGTGGCAGGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGTGTGAACCCAGGAGGCGGAGCTTGCAGTGAGCTGAGATCACGTCACTGCACTCCAGCCTGGGCGACAGTACAAGACTCCATCTCAAAAAAAAGACAGTCAGAAGGGGAGGACAGTTAGGCAATCAGATATATGGGTATGAAGCTCAGAACAGACTATTTAAAATAAA... | GGCTGAAGTGAGCGGATCATGAGGTCAGGAGATCAAGACCATCCTGGCTAACACGGTGAAACCCTGTCTCTATTAAAAATACAAAAAATTAGCCAGGCGTGGTGGCAGGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGTGTGAACCCAGGAGGCGGAGCTTGCAGTGAGCTGAGATCACGTCACTGCACTCCAGCCTGGGCGACAGTACAAGACTCCATCTCAAAAAAAAGACAGTCAGAAGGGGAGGACAGTTAGGCAATCAGATATATGGGTATGAAGCTCAGAACAGACTATTTAAAATAAA... | benign | 206,975 |
Determine whether the variant at chromosome 13, position 23234593, in gene SGCG (sarcoglycan gamma) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | benign | GGCTGAAGTGAGCGGATCATGAGGTCAGGAGATCAAGACCATCCTGGCTAACACGGTGAAACCCTGTCTCTATTAAAAATACAAAAAATTAGCCAGGCGTGGTGGCAGGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGTGTGAACCCAGGAGGCGGAGCTTGCAGTGAGCTGAGATCACGTCACTGCACTCCAGCCTGGGCGACAGTACAAGACTCCATCTCAAAAAAAAGACAGTCAGAAGGGGAGGACAGTTAGGCAATCAGATATATGGGTATGAAGCTCAGAACAGACTATTTAAAATAAA... | GGCTGAAGTGAGCGGATCATGAGGTCAGGAGATCAAGACCATCCTGGCTAACACGGTGAAACCCTGTCTCTATTAAAAATACAAAAAATTAGCCAGGCGTGGTGGCAGGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGTGTGAACCCAGGAGGCGGAGCTTGCAGTGAGCTGAGATCACGTCACTGCACTCCAGCCTGGGCGACAGTACAAGACTCCATCTCAAAAAAAAGACAGTCAGAAGGGGAGGACAGTTAGGCAATCAGATATATGGGTATGAAGCTCAGAACAGACTATTTAAAATAAA... | benign | 206,976 |
The mutation impacting SGCG (sarcoglycan gamma) on chromosome 13 at position 23234643: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2C'] | ACACGGTGAAACCCTGTCTCTATTAAAAATACAAAAAATTAGCCAGGCGTGGTGGCAGGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGTGTGAACCCAGGAGGCGGAGCTTGCAGTGAGCTGAGATCACGTCACTGCACTCCAGCCTGGGCGACAGTACAAGACTCCATCTCAAAAAAAAGACAGTCAGAAGGGGAGGACAGTTAGGCAATCAGATATATGGGTATGAAGCTCAGAACAGACTATTTAAAATAAAATACAGATAAAAATGGATTCTTCCATGTGGATGGCTGCTATCAAACAGAA... | ACACGGTGAAACCCTGTCTCTATTAAAAATACAAAAAATTAGCCAGGCGTGGTGGCAGGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGTGTGAACCCAGGAGGCGGAGCTTGCAGTGAGCTGAGATCACGTCACTGCACTCCAGCCTGGGCGACAGTACAAGACTCCATCTCAAAAAAAAGACAGTCAGAAGGGGAGGACAGTTAGGCAATCAGATATATGGGTATGAAGCTCAGAACAGACTATTTAAAATAAAATACAGATAAAAATGGATTCTTCCATGTGGATGGCTGCTATCAAACAGAA... | pathogenic | 206,981 |
Is the genetic mutation found on chromosome 13 at position 23250673, within the gene SGCG (sarcoglycan gamma), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2C'] | CGGAGCTTCCGGCGAGCCCAGATGGCGCCACTGCACTCCAGCCTGGGCGGCGGAACTAGACTCCGTCTCAAAAAGAAAAAAAAAAAGGCCGGGTTCGGTGGCTGATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGAGGGCGGATCACGAGGTCAGGAAATCGAGACCATCTTGGCTAACACGGTGAAACCCCGTCTCTACTAAAACTACCAAAAATTAGGGGGCGTGGTGGCGGGCACCTGTAGTCCCACCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGAT... | CGGAGCTTCCGGCGAGCCCAGATGGCGCCACTGCACTCCAGCCTGGGCGGCGGAACTAGACTCCGTCTCAAAAAGAAAAAAAAAAAGGCCGGGTTCGGTGGCTGATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGAGGGCGGATCACGAGGTCAGGAAATCGAGACCATCTTGGCTAACACGGTGAAACCCCGTCTCTACTAAAACTACCAAAAATTAGGGGGCGTGGTGGCGGGCACCTGTAGTCCCACCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGAT... | pathogenic | 206,991 |
Is the genetic change at chromosome 13, position 23279423, within gene SGCG (sarcoglycan gamma) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2C'] | AATAACATTACAAATACCAAAAAATAAAGTGAAGCTTTTAAAAAAAAAAAGGAGATGTAACATAGAGAAAAAAGTCAACTTTATAACTGGCACTCTTGCCAAAAATATTTATTTATTTAAATGAAGACTCACTGGAGGGTTTTAAATACAAATTAATAAAATTAAGAACACTTGGATGACCATGTCCAAAACGGATCAATGCATTAATAGAAAGGCTTTACTTAATGTCTACCAGGTATCCAAAAATTTTTATGAGAACTGTTAGGGTCAGAGGGGACACACACAAAAAAAATTATAACATATGACTTATTTTCTCAACT... | AATAACATTACAAATACCAAAAAATAAAGTGAAGCTTTTAAAAAAAAAAAGGAGATGTAACATAGAGAAAAAAGTCAACTTTATAACTGGCACTCTTGCCAAAAATATTTATTTATTTAAATGAAGACTCACTGGAGGGTTTTAAATACAAATTAATAAAATTAAGAACACTTGGATGACCATGTCCAAAACGGATCAATGCATTAATAGAAAGGCTTTACTTAATGTCTACCAGGTATCCAAAAATTTTTATGAGAACTGTTAGGGTCAGAGGGGACACACACAAAAAAAATTATAACATATGACTTATTTTCTCAACT... | pathogenic | 207,004 |
Evaluate if the mutation on chromosome 13 at position 23295429 in SGCG (sarcoglycan gamma) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy', 'Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2C', 'SGCG-related_congenital_myopathy'] | GTGCCACAAGCTATTATTTCTTGGATAAGGGCTTTTTTCCAGCGTGGGTTTTTATCATATCTTCATATTTAAATAAAATTACTAAGGAAGTAGTAATTATAATAACAAAGCTAATATAGCCAGTAATACTGTGGAGAAAATGTGAAGGTACTGTGAACTGTAGGGCTGGCTGGGCGCGGTGGCTCACGCCTATAATCCCAGCACTTTAGGAAGGCCAAGGAAGACAGATCACCGGAGGTCAGGTGTTTGAGACCAGACTGGCCAACATGTTGAAACCCTGTCTCTACTAAAAATACAAAATATTAGCCGGGTGTGGTGGT... | GTGCCACAAGCTATTATTTCTTGGATAAGGGCTTTTTTCCAGCGTGGGTTTTTATCATATCTTCATATTTAAATAAAATTACTAAGGAAGTAGTAATTATAATAACAAAGCTAATATAGCCAGTAATACTGTGGAGAAAATGTGAAGGTACTGTGAACTGTAGGGCTGGCTGGGCGCGGTGGCTCACGCCTATAATCCCAGCACTTTAGGAAGGCCAAGGAAGACAGATCACCGGAGGTCAGGTGTTTGAGACCAGACTGGCCAACATGTTGAAACCCTGTCTCTACTAAAAATACAAAATATTAGCCGGGTGTGGTGGT... | pathogenic | 207,010 |
Chromosome 13, position 23295456, gene SGCG (sarcoglycan gamma): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2C'] | AGGGCTTTTTTCCAGCGTGGGTTTTTATCATATCTTCATATTTAAATAAAATTACTAAGGAAGTAGTAATTATAATAACAAAGCTAATATAGCCAGTAATACTGTGGAGAAAATGTGAAGGTACTGTGAACTGTAGGGCTGGCTGGGCGCGGTGGCTCACGCCTATAATCCCAGCACTTTAGGAAGGCCAAGGAAGACAGATCACCGGAGGTCAGGTGTTTGAGACCAGACTGGCCAACATGTTGAAACCCTGTCTCTACTAAAAATACAAAATATTAGCCGGGTGTGGTGGTGGGCACCTGTAGTCCCAGCTACTCAGG... | AGGGCTTTTTTCCAGCGTGGGTTTTTATCATATCTTCATATTTAAATAAAATTACTAAGGAAGTAGTAATTATAATAACAAAGCTAATATAGCCAGTAATACTGTGGAGAAAATGTGAAGGTACTGTGAACTGTAGGGCTGGCTGGGCGCGGTGGCTCACGCCTATAATCCCAGCACTTTAGGAAGGCCAAGGAAGACAGATCACCGGAGGTCAGGTGTTTGAGACCAGACTGGCCAACATGTTGAAACCCTGTCTCTACTAAAAATACAAAATATTAGCCGGGTGTGGTGGTGGGCACCTGTAGTCCCAGCTACTCAGG... | pathogenic | 207,012 |
Clinical classification of chromosome 13, position 23295467, gene SGCG (sarcoglycan gamma): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2C'] | CCAGCGTGGGTTTTTATCATATCTTCATATTTAAATAAAATTACTAAGGAAGTAGTAATTATAATAACAAAGCTAATATAGCCAGTAATACTGTGGAGAAAATGTGAAGGTACTGTGAACTGTAGGGCTGGCTGGGCGCGGTGGCTCACGCCTATAATCCCAGCACTTTAGGAAGGCCAAGGAAGACAGATCACCGGAGGTCAGGTGTTTGAGACCAGACTGGCCAACATGTTGAAACCCTGTCTCTACTAAAAATACAAAATATTAGCCGGGTGTGGTGGTGGGCACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCA... | CCAGCGTGGGTTTTTATCATATCTTCATATTTAAATAAAATTACTAAGGAAGTAGTAATTATAATAACAAAGCTAATATAGCCAGTAATACTGTGGAGAAAATGTGAAGGTACTGTGAACTGTAGGGCTGGCTGGGCGCGGTGGCTCACGCCTATAATCCCAGCACTTTAGGAAGGCCAAGGAAGACAGATCACCGGAGGTCAGGTGTTTGAGACCAGACTGGCCAACATGTTGAAACCCTGTCTCTACTAAAAATACAAAATATTAGCCGGGTGTGGTGGTGGGCACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCA... | pathogenic | 207,013 |
Located at chromosome 13 position 23320656, the variant affecting gene SGCG (sarcoglycan gamma)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2C'] | AGACAGAAAACAAGTTATTTTGTATCTGAGTACTGTTCAATGTGTTAATGGAAATGTATACTTCAGAGCAATCTTATCTCAGCCTTTTGGTAAAATGTGTCTCAATCTGGGTTGAACTGAAATTTCTCATCTCCAAGTCTAGAAATAATGCAAAGGGTAAGAAGTTTGCTCTTCTTAGCAGCGTCCCATTATAACATGGTTAAAAACTAGTAAATGATCAGGTTGAAGTCATTTTGTTGTCGTTTAATGACTGATCTTGGAAACACCCACTTTCACAAGGATCTTCAAGGTCACAGATAGTTTGCCTGAAATTGACCAGG... | AGACAGAAAACAAGTTATTTTGTATCTGAGTACTGTTCAATGTGTTAATGGAAATGTATACTTCAGAGCAATCTTATCTCAGCCTTTTGGTAAAATGTGTCTCAATCTGGGTTGAACTGAAATTTCTCATCTCCAAGTCTAGAAATAATGCAAAGGGTAAGAAGTTTGCTCTTCTTAGCAGCGTCCCATTATAACATGGTTAAAAACTAGTAAATGATCAGGTTGAAGTCATTTTGTTGTCGTTTAATGACTGATCTTGGAAACACCCACTTTCACAAGGATCTTCAAGGTCACAGATAGTTTGCCTGAAATTGACCAGG... | pathogenic | 207,029 |
A mutation at chromosome position 23320737 on chromosome 13 in gene SGCG (sarcoglycan gamma): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2C'] | GCCTTTTGGTAAAATGTGTCTCAATCTGGGTTGAACTGAAATTTCTCATCTCCAAGTCTAGAAATAATGCAAAGGGTAAGAAGTTTGCTCTTCTTAGCAGCGTCCCATTATAACATGGTTAAAAACTAGTAAATGATCAGGTTGAAGTCATTTTGTTGTCGTTTAATGACTGATCTTGGAAACACCCACTTTCACAAGGATCTTCAAGGTCACAGATAGTTTGCCTGAAATTGACCAGGCTTCAAAGGTGCTTCTGTGTTCTTCCTTCCTTCCACTCCTCCACGCAAGAAAAATGTAGACAATTATCCAAGGTCAAAATA... | GCCTTTTGGTAAAATGTGTCTCAATCTGGGTTGAACTGAAATTTCTCATCTCCAAGTCTAGAAATAATGCAAAGGGTAAGAAGTTTGCTCTTCTTAGCAGCGTCCCATTATAACATGGTTAAAAACTAGTAAATGATCAGGTTGAAGTCATTTTGTTGTCGTTTAATGACTGATCTTGGAAACACCCACTTTCACAAGGATCTTCAAGGTCACAGATAGTTTGCCTGAAATTGACCAGGCTTCAAAGGTGCTTCTGTGTTCTTCCTTCCTTCCACTCCTCCACGCAAGAAAAATGTAGACAATTATCCAAGGTCAAAATA... | pathogenic | 207,031 |
A genetic variant at chromosome 13, position 23324387, affecting gene SGCG (sarcoglycan gamma)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2C'] | GCGAGCTGGACTGGAAAACTGCTCCCATTTTTAAAAAGCATGCAGGTTATACAGCATTTTCACTTAGCAACAACTTCCATTTAACCCAAAACAAAGGGCCTCGATCCCCCATATGGCCTGTGTTGCAAGGGATGGGCCAGGCGCTCCGATGTCCTTCACAGATGTGGACTGAATCTCAGGGTTTGCCACTCCCAGACTCCTTAGCTCAGAAGGCTGAACACACATTCTTCTTGGATCATAGAGTCATTCTCAGGGATTGCCTGAGTTATTGCAGTCAGGTGCATCTCCATACACCGGGTGAATGTGCTGGGATAAACATC... | GCGAGCTGGACTGGAAAACTGCTCCCATTTTTAAAAAGCATGCAGGTTATACAGCATTTTCACTTAGCAACAACTTCCATTTAACCCAAAACAAAGGGCCTCGATCCCCCATATGGCCTGTGTTGCAAGGGATGGGCCAGGCGCTCCGATGTCCTTCACAGATGTGGACTGAATCTCAGGGTTTGCCACTCCCAGACTCCTTAGCTCAGAAGGCTGAACACACATTCTTCTTGGATCATAGAGTCATTCTCAGGGATTGCCTGAGTTATTGCAGTCAGGTGCATCTCCATACACCGGGTGAATGTGCTGGGATAAACATC... | pathogenic | 207,038 |
Variant chromosome 13, position 23324416, gene SGCG (sarcoglycan gamma): benign or pathogenic? Disease(s)? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2C'] | TTTAAAAAGCATGCAGGTTATACAGCATTTTCACTTAGCAACAACTTCCATTTAACCCAAAACAAAGGGCCTCGATCCCCCATATGGCCTGTGTTGCAAGGGATGGGCCAGGCGCTCCGATGTCCTTCACAGATGTGGACTGAATCTCAGGGTTTGCCACTCCCAGACTCCTTAGCTCAGAAGGCTGAACACACATTCTTCTTGGATCATAGAGTCATTCTCAGGGATTGCCTGAGTTATTGCAGTCAGGTGCATCTCCATACACCGGGTGAATGTGCTGGGATAAACATCCATGGACGCTGTTAGTACAACAAGAAGGC... | TTTAAAAAGCATGCAGGTTATACAGCATTTTCACTTAGCAACAACTTCCATTTAACCCAAAACAAAGGGCCTCGATCCCCCATATGGCCTGTGTTGCAAGGGATGGGCCAGGCGCTCCGATGTCCTTCACAGATGTGGACTGAATCTCAGGGTTTGCCACTCCCAGACTCCTTAGCTCAGAAGGCTGAACACACATTCTTCTTGGATCATAGAGTCATTCTCAGGGATTGCCTGAGTTATTGCAGTCAGGTGCATCTCCATACACCGGGTGAATGTGCTGGGATAAACATCCATGGACGCTGTTAGTACAACAAGAAGGC... | pathogenic | 207,040 |
Variant in gene SGCG (sarcoglycan gamma), located at chromosome 13 position 23324432: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2C'] | GTTATACAGCATTTTCACTTAGCAACAACTTCCATTTAACCCAAAACAAAGGGCCTCGATCCCCCATATGGCCTGTGTTGCAAGGGATGGGCCAGGCGCTCCGATGTCCTTCACAGATGTGGACTGAATCTCAGGGTTTGCCACTCCCAGACTCCTTAGCTCAGAAGGCTGAACACACATTCTTCTTGGATCATAGAGTCATTCTCAGGGATTGCCTGAGTTATTGCAGTCAGGTGCATCTCCATACACCGGGTGAATGTGCTGGGATAAACATCCATGGACGCTGTTAGTACAACAAGAAGGCACATGGGTTTCCAAGC... | GTTATACAGCATTTTCACTTAGCAACAACTTCCATTTAACCCAAAACAAAGGGCCTCGATCCCCCATATGGCCTGTGTTGCAAGGGATGGGCCAGGCGCTCCGATGTCCTTCACAGATGTGGACTGAATCTCAGGGTTTGCCACTCCCAGACTCCTTAGCTCAGAAGGCTGAACACACATTCTTCTTGGATCATAGAGTCATTCTCAGGGATTGCCTGAGTTATTGCAGTCAGGTGCATCTCCATACACCGGGTGAATGTGCTGGGATAAACATCCATGGACGCTGTTAGTACAACAAGAAGGCACATGGGTTTCCAAGC... | pathogenic | 207,042 |
Chromosome 13, position 23324457, gene SGCG (sarcoglycan gamma): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2C'] | CAACTTCCATTTAACCCAAAACAAAGGGCCTCGATCCCCCATATGGCCTGTGTTGCAAGGGATGGGCCAGGCGCTCCGATGTCCTTCACAGATGTGGACTGAATCTCAGGGTTTGCCACTCCCAGACTCCTTAGCTCAGAAGGCTGAACACACATTCTTCTTGGATCATAGAGTCATTCTCAGGGATTGCCTGAGTTATTGCAGTCAGGTGCATCTCCATACACCGGGTGAATGTGCTGGGATAAACATCCATGGACGCTGTTAGTACAACAAGAAGGCACATGGGTTTCCAAGCTCCTCCCCAGCCCAGGCCCTATCAT... | CAACTTCCATTTAACCCAAAACAAAGGGCCTCGATCCCCCATATGGCCTGTGTTGCAAGGGATGGGCCAGGCGCTCCGATGTCCTTCACAGATGTGGACTGAATCTCAGGGTTTGCCACTCCCAGACTCCTTAGCTCAGAAGGCTGAACACACATTCTTCTTGGATCATAGAGTCATTCTCAGGGATTGCCTGAGTTATTGCAGTCAGGTGCATCTCCATACACCGGGTGAATGTGCTGGGATAAACATCCATGGACGCTGTTAGTACAACAAGAAGGCACATGGGTTTCCAAGCTCCTCCCCAGCCCAGGCCCTATCAT... | pathogenic | 207,044 |
Variant chromosome 13, position 23324465, gene SGCG (sarcoglycan gamma): benign or pathogenic? Disease(s)? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2C'] | ATTTAACCCAAAACAAAGGGCCTCGATCCCCCATATGGCCTGTGTTGCAAGGGATGGGCCAGGCGCTCCGATGTCCTTCACAGATGTGGACTGAATCTCAGGGTTTGCCACTCCCAGACTCCTTAGCTCAGAAGGCTGAACACACATTCTTCTTGGATCATAGAGTCATTCTCAGGGATTGCCTGAGTTATTGCAGTCAGGTGCATCTCCATACACCGGGTGAATGTGCTGGGATAAACATCCATGGACGCTGTTAGTACAACAAGAAGGCACATGGGTTTCCAAGCTCCTCCCCAGCCCAGGCCCTATCATCGCACCTG... | ATTTAACCCAAAACAAAGGGCCTCGATCCCCCATATGGCCTGTGTTGCAAGGGATGGGCCAGGCGCTCCGATGTCCTTCACAGATGTGGACTGAATCTCAGGGTTTGCCACTCCCAGACTCCTTAGCTCAGAAGGCTGAACACACATTCTTCTTGGATCATAGAGTCATTCTCAGGGATTGCCTGAGTTATTGCAGTCAGGTGCATCTCCATACACCGGGTGAATGTGCTGGGATAAACATCCATGGACGCTGTTAGTACAACAAGAAGGCACATGGGTTTCCAAGCTCCTCCCCAGCCCAGGCCCTATCATCGCACCTG... | pathogenic | 207,045 |
Does the variant impacting SGCG (sarcoglycan gamma) on chromosome 13, position 23324484, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2C'] | GCCTCGATCCCCCATATGGCCTGTGTTGCAAGGGATGGGCCAGGCGCTCCGATGTCCTTCACAGATGTGGACTGAATCTCAGGGTTTGCCACTCCCAGACTCCTTAGCTCAGAAGGCTGAACACACATTCTTCTTGGATCATAGAGTCATTCTCAGGGATTGCCTGAGTTATTGCAGTCAGGTGCATCTCCATACACCGGGTGAATGTGCTGGGATAAACATCCATGGACGCTGTTAGTACAACAAGAAGGCACATGGGTTTCCAAGCTCCTCCCCAGCCCAGGCCCTATCATCGCACCTGCGGCGATGCACAGACCGCC... | GCCTCGATCCCCCATATGGCCTGTGTTGCAAGGGATGGGCCAGGCGCTCCGATGTCCTTCACAGATGTGGACTGAATCTCAGGGTTTGCCACTCCCAGACTCCTTAGCTCAGAAGGCTGAACACACATTCTTCTTGGATCATAGAGTCATTCTCAGGGATTGCCTGAGTTATTGCAGTCAGGTGCATCTCCATACACCGGGTGAATGTGCTGGGATAAACATCCATGGACGCTGTTAGTACAACAAGAAGGCACATGGGTTTCCAAGCTCCTCCCCAGCCCAGGCCCTATCATCGCACCTGCGGCGATGCACAGACCGCC... | pathogenic | 207,046 |
Does the variant on chromosome 13 at location 23330115 affecting gene SACS (sacsin molecular chaperone) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | benign | CCCTCATAGCCTTAACTGCAGAAATACTAATGCGTTTGATTACAGGTACAGCCTGTCCCTGGTGGGAGCACTTCATTAAAAAGTTATATATAATTGTATTAACTTTCTAAAATCAAATTATGAGGGGTTTTTTTTTGCCTGGAAAAACACAAAACTCCAACTAGATCAACTATCAAGGCCAAATGAGGTTTTCTGTGTAAATTTTAATATTCAAAAGCAATAAAATCTAAATGCTGAATTGAAGCTTCGAAGTAGCAAGTACTTTAAATAAAGCTGAAGGCACAGAATTCAGGTAGCTCCAGAACAGAGAGCACTCTTAG... | CCCTCATAGCCTTAACTGCAGAAATACTAATGCGTTTGATTACAGGTACAGCCTGTCCCTGGTGGGAGCACTTCATTAAAAAGTTATATATAATTGTATTAACTTTCTAAAATCAAATTATGAGGGGTTTTTTTTTGCCTGGAAAAACACAAAACTCCAACTAGATCAACTATCAAGGCCAAATGAGGTTTTCTGTGTAAATTTTAATATTCAAAAGCAATAAAATCTAAATGCTGAATTGAAGCTTCGAAGTAGCAAGTACTTTAAATAAAGCTGAAGGCACAGAATTCAGGTAGCTCCAGAACAGAGAGCACTCTTAG... | benign | 207,059 |
Mutation found at chromosome 13 position 23330592, gene SACS (sacsin molecular chaperone): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Charlevoix-Saguenay_spastic_ataxia', 'Spastic_paraplegia'] | TGTATCTGTTTCCAAACACATATATACCACATATATCAGCTAATCTGATTCCCTAAAAAGGTGACATAAACTCAACTAAATCAATGAGCACCTAAACCTAGTATATAACAAGCACTTCATATTCTATTAATCCTAAAAATCTATAATTCCAGCATGAAAATATACAGGAAAATATTTTCCTAATATTTCCAATAAATACACACATACACACACATTAAAACTTAATATTAAGATGTTAAGTTTGATTTCCAATGAACTATTTCTCAGGAAACACCCATTACGATGATTTCATATGTACATTTTCCTTTATTAAAAGTATG... | TGTATCTGTTTCCAAACACATATATACCACATATATCAGCTAATCTGATTCCCTAAAAAGGTGACATAAACTCAACTAAATCAATGAGCACCTAAACCTAGTATATAACAAGCACTTCATATTCTATTAATCCTAAAAATCTATAATTCCAGCATGAAAATATACAGGAAAATATTTTCCTAATATTTCCAATAAATACACACATACACACACATTAAAACTTAATATTAAGATGTTAAGTTTGATTTCCAATGAACTATTTCTCAGGAAACACCCATTACGATGATTTCATATGTACATTTTCCTTTATTAAAAGTATG... | pathogenic | 207,066 |
Evaluate if the mutation on chromosome 13 at position 23330622 in SACS (sacsin molecular chaperone) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Charlevoix-Saguenay_spastic_ataxia', 'Spastic_paraplegia'] | ATATATCAGCTAATCTGATTCCCTAAAAAGGTGACATAAACTCAACTAAATCAATGAGCACCTAAACCTAGTATATAACAAGCACTTCATATTCTATTAATCCTAAAAATCTATAATTCCAGCATGAAAATATACAGGAAAATATTTTCCTAATATTTCCAATAAATACACACATACACACACATTAAAACTTAATATTAAGATGTTAAGTTTGATTTCCAATGAACTATTTCTCAGGAAACACCCATTACGATGATTTCATATGTACATTTTCCTTTATTAAAAGTATGGCACTTTATATAACAGCAGAAATAATTACA... | ATATATCAGCTAATCTGATTCCCTAAAAAGGTGACATAAACTCAACTAAATCAATGAGCACCTAAACCTAGTATATAACAAGCACTTCATATTCTATTAATCCTAAAAATCTATAATTCCAGCATGAAAATATACAGGAAAATATTTTCCTAATATTTCCAATAAATACACACATACACACACATTAAAACTTAATATTAAGATGTTAAGTTTGATTTCCAATGAACTATTTCTCAGGAAACACCCATTACGATGATTTCATATGTACATTTTCCTTTATTAAAAGTATGGCACTTTATATAACAGCAGAAATAATTACA... | pathogenic | 207,068 |
Chromosome 13, position 23330754, gene SACS (sacsin molecular chaperone): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Charlevoix-Saguenay_spastic_ataxia'] | TACAGGAAAATATTTTCCTAATATTTCCAATAAATACACACATACACACACATTAAAACTTAATATTAAGATGTTAAGTTTGATTTCCAATGAACTATTTCTCAGGAAACACCCATTACGATGATTTCATATGTACATTTTCCTTTATTAAAAGTATGGCACTTTATATAACAGCAGAAATAATTACATGATTTCACATCCAGAAGCAATAAAATGTGGAGGTGCAAACATTCCTTATTCCCAATAAAAGTAAAAAAAGTTTCAACATGTTCTGTAAGCCCTTAATTGCATAAAGTATATTTAGCATCATTTACAGCCAG... | TACAGGAAAATATTTTCCTAATATTTCCAATAAATACACACATACACACACATTAAAACTTAATATTAAGATGTTAAGTTTGATTTCCAATGAACTATTTCTCAGGAAACACCCATTACGATGATTTCATATGTACATTTTCCTTTATTAAAAGTATGGCACTTTATATAACAGCAGAAATAATTACATGATTTCACATCCAGAAGCAATAAAATGTGGAGGTGCAAACATTCCTTATTCCCAATAAAAGTAAAAAAAGTTTCAACATGTTCTGTAAGCCCTTAATTGCATAAAGTATATTTAGCATCATTTACAGCCAG... | pathogenic | 207,071 |
Gene SACS (sacsin molecular chaperone) variant at chromosome position 23330895 on chromosome 13: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Charlevoix-Saguenay_spastic_ataxia', 'Spastic_paraplegia'] | CCTTTATTAAAAGTATGGCACTTTATATAACAGCAGAAATAATTACATGATTTCACATCCAGAAGCAATAAAATGTGGAGGTGCAAACATTCCTTATTCCCAATAAAAGTAAAAAAAGTTTCAACATGTTCTGTAAGCCCTTAATTGCATAAAGTATATTTAGCATCATTTACAGCCAGTACACTTATATAAACTAATTATCATTACCTTTTACATTCTGCAAAAGAAATATGTTAAAGTAAAGAAGCATGGCGAGACAAACATGAATTAAATGTCAGTTCTGATCATTCATGGGGAAATATAAGCCGATAATTATAAAC... | CCTTTATTAAAAGTATGGCACTTTATATAACAGCAGAAATAATTACATGATTTCACATCCAGAAGCAATAAAATGTGGAGGTGCAAACATTCCTTATTCCCAATAAAAGTAAAAAAAGTTTCAACATGTTCTGTAAGCCCTTAATTGCATAAAGTATATTTAGCATCATTTACAGCCAGTACACTTATATAAACTAATTATCATTACCTTTTACATTCTGCAAAAGAAATATGTTAAAGTAAAGAAGCATGGCGAGACAAACATGAATTAAATGTCAGTTCTGATCATTCATGGGGAAATATAAGCCGATAATTATAAAC... | pathogenic | 207,072 |
Considering the genetic mutation at chromosome 13, position 23330948, impacting SACS (sacsin molecular chaperone): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Charlevoix-Saguenay_spastic_ataxia', 'Inborn_genetic_diseases', 'Spastic_paraplegia'] | CACATCCAGAAGCAATAAAATGTGGAGGTGCAAACATTCCTTATTCCCAATAAAAGTAAAAAAAGTTTCAACATGTTCTGTAAGCCCTTAATTGCATAAAGTATATTTAGCATCATTTACAGCCAGTACACTTATATAAACTAATTATCATTACCTTTTACATTCTGCAAAAGAAATATGTTAAAGTAAAGAAGCATGGCGAGACAAACATGAATTAAATGTCAGTTCTGATCATTCATGGGGAAATATAAGCCGATAATTATAAACTACTAGATAACACAATGATTTTAACAATTTTTGATGTTTTTAAAGTTAAAAAA... | CACATCCAGAAGCAATAAAATGTGGAGGTGCAAACATTCCTTATTCCCAATAAAAGTAAAAAAAGTTTCAACATGTTCTGTAAGCCCTTAATTGCATAAAGTATATTTAGCATCATTTACAGCCAGTACACTTATATAAACTAATTATCATTACCTTTTACATTCTGCAAAAGAAATATGTTAAAGTAAAGAAGCATGGCGAGACAAACATGAATTAAATGTCAGTTCTGATCATTCATGGGGAAATATAAGCCGATAATTATAAACTACTAGATAACACAATGATTTTAACAATTTTTGATGTTTTTAAAGTTAAAAAA... | pathogenic | 207,074 |
A genetic variant on chromosome 13, position 23331021, affects the gene SACS (sacsin molecular chaperone). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Charlevoix-Saguenay_spastic_ataxia', 'Spastic_paraplegia'] | TGTTCTGTAAGCCCTTAATTGCATAAAGTATATTTAGCATCATTTACAGCCAGTACACTTATATAAACTAATTATCATTACCTTTTACATTCTGCAAAAGAAATATGTTAAAGTAAAGAAGCATGGCGAGACAAACATGAATTAAATGTCAGTTCTGATCATTCATGGGGAAATATAAGCCGATAATTATAAACTACTAGATAACACAATGATTTTAACAATTTTTGATGTTTTTAAAGTTAAAAAAACTCCACTACATGCCATATTGAAAGAAAAGGTTGTTTTTTTTTTAACTGCAGCACCTTTAGACAACAAAAGAT... | TGTTCTGTAAGCCCTTAATTGCATAAAGTATATTTAGCATCATTTACAGCCAGTACACTTATATAAACTAATTATCATTACCTTTTACATTCTGCAAAAGAAATATGTTAAAGTAAAGAAGCATGGCGAGACAAACATGAATTAAATGTCAGTTCTGATCATTCATGGGGAAATATAAGCCGATAATTATAAACTACTAGATAACACAATGATTTTAACAATTTTTGATGTTTTTAAAGTTAAAAAAACTCCACTACATGCCATATTGAAAGAAAAGGTTGTTTTTTTTTTAACTGCAGCACCTTTAGACAACAAAAGAT... | pathogenic | 207,075 |
Is chromosome 13, position 23331036, gene SACS (sacsin molecular chaperone) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Charlevoix-Saguenay_spastic_ataxia', 'Spastic_paraplegia'] | TAATTGCATAAAGTATATTTAGCATCATTTACAGCCAGTACACTTATATAAACTAATTATCATTACCTTTTACATTCTGCAAAAGAAATATGTTAAAGTAAAGAAGCATGGCGAGACAAACATGAATTAAATGTCAGTTCTGATCATTCATGGGGAAATATAAGCCGATAATTATAAACTACTAGATAACACAATGATTTTAACAATTTTTGATGTTTTTAAAGTTAAAAAAACTCCACTACATGCCATATTGAAAGAAAAGGTTGTTTTTTTTTTAACTGCAGCACCTTTAGACAACAAAAGATTGCATCCTGTTCAAC... | TAATTGCATAAAGTATATTTAGCATCATTTACAGCCAGTACACTTATATAAACTAATTATCATTACCTTTTACATTCTGCAAAAGAAATATGTTAAAGTAAAGAAGCATGGCGAGACAAACATGAATTAAATGTCAGTTCTGATCATTCATGGGGAAATATAAGCCGATAATTATAAACTACTAGATAACACAATGATTTTAACAATTTTTGATGTTTTTAAAGTTAAAAAAACTCCACTACATGCCATATTGAAAGAAAAGGTTGTTTTTTTTTTAACTGCAGCACCTTTAGACAACAAAAGATTGCATCCTGTTCAAC... | pathogenic | 207,077 |
Chromosome 13, position 23331039, gene SACS (sacsin molecular chaperone): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Charlevoix-Saguenay_spastic_ataxia', 'Spastic_paraplegia'] | TTGCATAAAGTATATTTAGCATCATTTACAGCCAGTACACTTATATAAACTAATTATCATTACCTTTTACATTCTGCAAAAGAAATATGTTAAAGTAAAGAAGCATGGCGAGACAAACATGAATTAAATGTCAGTTCTGATCATTCATGGGGAAATATAAGCCGATAATTATAAACTACTAGATAACACAATGATTTTAACAATTTTTGATGTTTTTAAAGTTAAAAAAACTCCACTACATGCCATATTGAAAGAAAAGGTTGTTTTTTTTTTAACTGCAGCACCTTTAGACAACAAAAGATTGCATCCTGTTCAACCAC... | TTGCATAAAGTATATTTAGCATCATTTACAGCCAGTACACTTATATAAACTAATTATCATTACCTTTTACATTCTGCAAAAGAAATATGTTAAAGTAAAGAAGCATGGCGAGACAAACATGAATTAAATGTCAGTTCTGATCATTCATGGGGAAATATAAGCCGATAATTATAAACTACTAGATAACACAATGATTTTAACAATTTTTGATGTTTTTAAAGTTAAAAAAACTCCACTACATGCCATATTGAAAGAAAAGGTTGTTTTTTTTTTAACTGCAGCACCTTTAGACAACAAAAGATTGCATCCTGTTCAACCAC... | pathogenic | 207,078 |
Does the variant impacting SACS (sacsin molecular chaperone) on chromosome 13, position 23331109, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Charlevoix-Saguenay_spastic_ataxia', 'Spastic_paraplegia'] | ATTCTGCAAAAGAAATATGTTAAAGTAAAGAAGCATGGCGAGACAAACATGAATTAAATGTCAGTTCTGATCATTCATGGGGAAATATAAGCCGATAATTATAAACTACTAGATAACACAATGATTTTAACAATTTTTGATGTTTTTAAAGTTAAAAAAACTCCACTACATGCCATATTGAAAGAAAAGGTTGTTTTTTTTTTAACTGCAGCACCTTTAGACAACAAAAGATTGCATCCTGTTCAACCACACTATATAAATTATAACATTTGTGGAAAATATGTACACACAAACATAAAGCAAGTGTTCTAACAGTTAAT... | ATTCTGCAAAAGAAATATGTTAAAGTAAAGAAGCATGGCGAGACAAACATGAATTAAATGTCAGTTCTGATCATTCATGGGGAAATATAAGCCGATAATTATAAACTACTAGATAACACAATGATTTTAACAATTTTTGATGTTTTTAAAGTTAAAAAAACTCCACTACATGCCATATTGAAAGAAAAGGTTGTTTTTTTTTTAACTGCAGCACCTTTAGACAACAAAAGATTGCATCCTGTTCAACCACACTATATAAATTATAACATTTGTGGAAAATATGTACACACAAACATAAAGCAAGTGTTCTAACAGTTAAT... | pathogenic | 207,079 |
A genetic variant at chromosome 13, position 23331198, affecting gene SACS (sacsin molecular chaperone)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Charlevoix-Saguenay_spastic_ataxia', 'Inborn_genetic_diseases', 'Spastic_paraplegia'] | AGCCGATAATTATAAACTACTAGATAACACAATGATTTTAACAATTTTTGATGTTTTTAAAGTTAAAAAAACTCCACTACATGCCATATTGAAAGAAAAGGTTGTTTTTTTTTTAACTGCAGCACCTTTAGACAACAAAAGATTGCATCCTGTTCAACCACACTATATAAATTATAACATTTGTGGAAAATATGTACACACAAACATAAAGCAAGTGTTCTAACAGTTAATAAATGTTGTCTTGGCAAGCAGTTTCCAGAAACAATACTAACAACTGGTAATAAGAACTGCCACCATTTTGAGTTTTCCGTTGCTATCTT... | AGCCGATAATTATAAACTACTAGATAACACAATGATTTTAACAATTTTTGATGTTTTTAAAGTTAAAAAAACTCCACTACATGCCATATTGAAAGAAAAGGTTGTTTTTTTTTTAACTGCAGCACCTTTAGACAACAAAAGATTGCATCCTGTTCAACCACACTATATAAATTATAACATTTGTGGAAAATATGTACACACAAACATAAAGCAAGTGTTCTAACAGTTAATAAATGTTGTCTTGGCAAGCAGTTTCCAGAAACAATACTAACAACTGGTAATAAGAACTGCCACCATTTTGAGTTTTCCGTTGCTATCTT... | pathogenic | 207,081 |
Variant in gene SACS (sacsin molecular chaperone), located at chromosome 13 position 23331334: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Charlevoix-Saguenay_spastic_ataxia'] | AAAAGATTGCATCCTGTTCAACCACACTATATAAATTATAACATTTGTGGAAAATATGTACACACAAACATAAAGCAAGTGTTCTAACAGTTAATAAATGTTGTCTTGGCAAGCAGTTTCCAGAAACAATACTAACAACTGGTAATAAGAACTGCCACCATTTTGAGTTTTCCGTTGCTATCTTCATCAAACAGGAAGCCTGTAAACATAAGATGTTAAAAAAAAATTTAAATAAAGATGTAAAGTGCACTCAGTGCACTCTAAAAAGTACTACCTTCACACTCTTAGTCAAGTAATAGGATTAAAATACTCTACCATTT... | AAAAGATTGCATCCTGTTCAACCACACTATATAAATTATAACATTTGTGGAAAATATGTACACACAAACATAAAGCAAGTGTTCTAACAGTTAATAAATGTTGTCTTGGCAAGCAGTTTCCAGAAACAATACTAACAACTGGTAATAAGAACTGCCACCATTTTGAGTTTTCCGTTGCTATCTTCATCAAACAGGAAGCCTGTAAACATAAGATGTTAAAAAAAAATTTAAATAAAGATGTAAAGTGCACTCAGTGCACTCTAAAAAGTACTACCTTCACACTCTTAGTCAAGTAATAGGATTAAAATACTCTACCATTT... | pathogenic | 207,088 |
Gene SACS (sacsin molecular chaperone) variant at chromosome 13, position 23331339—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Charlevoix-Saguenay_spastic_ataxia', 'Spastic_paraplegia'] | ATTGCATCCTGTTCAACCACACTATATAAATTATAACATTTGTGGAAAATATGTACACACAAACATAAAGCAAGTGTTCTAACAGTTAATAAATGTTGTCTTGGCAAGCAGTTTCCAGAAACAATACTAACAACTGGTAATAAGAACTGCCACCATTTTGAGTTTTCCGTTGCTATCTTCATCAAACAGGAAGCCTGTAAACATAAGATGTTAAAAAAAAATTTAAATAAAGATGTAAAGTGCACTCAGTGCACTCTAAAAAGTACTACCTTCACACTCTTAGTCAAGTAATAGGATTAAAATACTCTACCATTTCTTAA... | ATTGCATCCTGTTCAACCACACTATATAAATTATAACATTTGTGGAAAATATGTACACACAAACATAAAGCAAGTGTTCTAACAGTTAATAAATGTTGTCTTGGCAAGCAGTTTCCAGAAACAATACTAACAACTGGTAATAAGAACTGCCACCATTTTGAGTTTTCCGTTGCTATCTTCATCAAACAGGAAGCCTGTAAACATAAGATGTTAAAAAAAAATTTAAATAAAGATGTAAAGTGCACTCAGTGCACTCTAAAAAGTACTACCTTCACACTCTTAGTCAAGTAATAGGATTAAAATACTCTACCATTTCTTAA... | pathogenic | 207,089 |
Located at chromosome 13 position 23331656, the variant affecting gene SACS (sacsin molecular chaperone)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Charlevoix-Saguenay_spastic_ataxia', 'Spastic_paraplegia'] | TAAATGCACTGAGTACAACATAAAATTACAACAAATTCATGATCAGAGCCAGCTGATGAGAAAATAACGCATCCAAGAGGATCCACTTAAAAAAATGACAGACTACAAAGACTTAATTCCCCTTATGTTTAAACCAATTATATGTCCAGTGTTTCATTAGCTCCTTCAAAAATACCATGTTAAAAACATAAAATTAACTTCATCCTAACCAGAGACATACATAGACTCTTATCTAACAAACTGCTAAGCTTTGGTTATATAAAGTGCAGTTCAATGATGTATCATCCCAATCATTCAAATCCATCCAGCTATTTTGCAGC... | TAAATGCACTGAGTACAACATAAAATTACAACAAATTCATGATCAGAGCCAGCTGATGAGAAAATAACGCATCCAAGAGGATCCACTTAAAAAAATGACAGACTACAAAGACTTAATTCCCCTTATGTTTAAACCAATTATATGTCCAGTGTTTCATTAGCTCCTTCAAAAATACCATGTTAAAAACATAAAATTAACTTCATCCTAACCAGAGACATACATAGACTCTTATCTAACAAACTGCTAAGCTTTGGTTATATAAAGTGCAGTTCAATGATGTATCATCCCAATCATTCAAATCCATCCAGCTATTTTGCAGC... | pathogenic | 207,096 |
Variant at chromosome 13, position 23332354, gene SACS (sacsin molecular chaperone): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Charlevoix-Saguenay_spastic_ataxia', 'Spastic_paraplegia'] | GAACATCATTTGTCAGTCCTTCAAGTTGCTGACTATATTCCTCTATTTTCTGAGCAAGTGCAGTTGGTTTTACATCTTTATCAGACTTTCCCCTCACAGCATAGTCAGCTGCAATCAAAGCTAACTTGGTAGAAAGGTAACATTTAAAGCACACCCACTCATTGGCATTTTTATGAAGGTCATTCCTGGCAGCTGAGAAGTTTGCTCTGGCTTGTCTTAGCCATCTGCGTGCTTCCACTGGATTGCCAACCGACTTGAAAGTGGGAGGAACAAAGAACCTTTGAGAGTAAGTCTGTCCGGCTGAAGGGGGGCATTTTTCT... | GAACATCATTTGTCAGTCCTTCAAGTTGCTGACTATATTCCTCTATTTTCTGAGCAAGTGCAGTTGGTTTTACATCTTTATCAGACTTTCCCCTCACAGCATAGTCAGCTGCAATCAAAGCTAACTTGGTAGAAAGGTAACATTTAAAGCACACCCACTCATTGGCATTTTTATGAAGGTCATTCCTGGCAGCTGAGAAGTTTGCTCTGGCTTGTCTTAGCCATCTGCGTGCTTCCACTGGATTGCCAACCGACTTGAAAGTGGGAGGAACAAAGAACCTTTGAGAGTAAGTCTGTCCGGCTGAAGGGGGGCATTTTTCT... | pathogenic | 207,108 |
Evaluate the clinical significance of the mutation at chromosome 13, position 23332502 in gene SACS (sacsin molecular chaperone): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Charlevoix-Saguenay_spastic_ataxia', 'Spastic_paraplegia'] | GCACACCCACTCATTGGCATTTTTATGAAGGTCATTCCTGGCAGCTGAGAAGTTTGCTCTGGCTTGTCTTAGCCATCTGCGTGCTTCCACTGGATTGCCAACCGACTTGAAAGTGGGAGGAACAAAGAACCTTTGAGAGTAAGTCTGTCCGGCTGAAGGGGGGCATTTTTCTTTGTTCTGTTGCTGTCTTTCAGATTTATGGCTCGTTGCTTCTTGATTCCATGAAGTATAGAATCTCTGAAATGAGTATTTGTCTGACTGAAATCGGGATGCTGAGGTTGAAAATGTTCGTCTGGAGGCCCTGTCTGCATTTTGATCTA... | GCACACCCACTCATTGGCATTTTTATGAAGGTCATTCCTGGCAGCTGAGAAGTTTGCTCTGGCTTGTCTTAGCCATCTGCGTGCTTCCACTGGATTGCCAACCGACTTGAAAGTGGGAGGAACAAAGAACCTTTGAGAGTAAGTCTGTCCGGCTGAAGGGGGGCATTTTTCTTTGTTCTGTTGCTGTCTTTCAGATTTATGGCTCGTTGCTTCTTGATTCCATGAAGTATAGAATCTCTGAAATGAGTATTTGTCTGACTGAAATCGGGATGCTGAGGTTGAAAATGTTCGTCTGGAGGCCCTGTCTGCATTTTGATCTA... | pathogenic | 207,111 |
Does the variant impacting SACS (sacsin molecular chaperone) on chromosome 13, position 23332609, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Charlevoix-Saguenay_spastic_ataxia', 'Spastic_paraplegia'] | TGAAAGTGGGAGGAACAAAGAACCTTTGAGAGTAAGTCTGTCCGGCTGAAGGGGGGCATTTTTCTTTGTTCTGTTGCTGTCTTTCAGATTTATGGCTCGTTGCTTCTTGATTCCATGAAGTATAGAATCTCTGAAATGAGTATTTGTCTGACTGAAATCGGGATGCTGAGGTTGAAAATGTTCGTCTGGAGGCCCTGTCTGCATTTTGATCTAGAAAAGCCTGTTTTTCTAATCTGTTGATTTCATTCTGCAAATGTTTAAAAACTTCATTGGCAATGTCATGGTTCTCTGGATTTTTGTCAGGATGCCATTTCAAATAC... | TGAAAGTGGGAGGAACAAAGAACCTTTGAGAGTAAGTCTGTCCGGCTGAAGGGGGGCATTTTTCTTTGTTCTGTTGCTGTCTTTCAGATTTATGGCTCGTTGCTTCTTGATTCCATGAAGTATAGAATCTCTGAAATGAGTATTTGTCTGACTGAAATCGGGATGCTGAGGTTGAAAATGTTCGTCTGGAGGCCCTGTCTGCATTTTGATCTAGAAAAGCCTGTTTTTCTAATCTGTTGATTTCATTCTGCAAATGTTTAAAAACTTCATTGGCAATGTCATGGTTCTCTGGATTTTTGTCAGGATGCCATTTCAAATAC... | pathogenic | 207,113 |
Variant on chromosome 13, at position 23332625, affecting SACS (sacsin molecular chaperone): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Charlevoix-Saguenay_spastic_ataxia', 'Spastic_paraplegia'] | AAAGAACCTTTGAGAGTAAGTCTGTCCGGCTGAAGGGGGGCATTTTTCTTTGTTCTGTTGCTGTCTTTCAGATTTATGGCTCGTTGCTTCTTGATTCCATGAAGTATAGAATCTCTGAAATGAGTATTTGTCTGACTGAAATCGGGATGCTGAGGTTGAAAATGTTCGTCTGGAGGCCCTGTCTGCATTTTGATCTAGAAAAGCCTGTTTTTCTAATCTGTTGATTTCATTCTGCAAATGTTTAAAAACTTCATTGGCAATGTCATGGTTCTCTGGATTTTTGTCAGGATGCCATTTCAAATACAACCGCCTAATAATCT... | AAAGAACCTTTGAGAGTAAGTCTGTCCGGCTGAAGGGGGGCATTTTTCTTTGTTCTGTTGCTGTCTTTCAGATTTATGGCTCGTTGCTTCTTGATTCCATGAAGTATAGAATCTCTGAAATGAGTATTTGTCTGACTGAAATCGGGATGCTGAGGTTGAAAATGTTCGTCTGGAGGCCCTGTCTGCATTTTGATCTAGAAAAGCCTGTTTTTCTAATCTGTTGATTTCATTCTGCAAATGTTTAAAAACTTCATTGGCAATGTCATGGTTCTCTGGATTTTTGTCAGGATGCCATTTCAAATACAACCGCCTAATAATCT... | pathogenic | 207,114 |
A genetic variant on chromosome 13, position 23332739, affects the gene SACS (sacsin molecular chaperone). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Charlevoix-Saguenay_spastic_ataxia', 'Spastic_paraplegia'] | CTGAAATGAGTATTTGTCTGACTGAAATCGGGATGCTGAGGTTGAAAATGTTCGTCTGGAGGCCCTGTCTGCATTTTGATCTAGAAAAGCCTGTTTTTCTAATCTGTTGATTTCATTCTGCAAATGTTTAAAAACTTCATTGGCAATGTCATGGTTCTCTGGATTTTTGTCAGGATGCCATTTCAAATACAACCGCCTAATAATCTTTTTTCGTTCCGATTCTGGAAGCTTCCATGCTTGCTCCACCACAGATGTCACTTCTTTTAAGATTTCTGGTAAAGAATTAACCTTAAGCTTTTTGGGGGACTGATGTTTGGAAG... | CTGAAATGAGTATTTGTCTGACTGAAATCGGGATGCTGAGGTTGAAAATGTTCGTCTGGAGGCCCTGTCTGCATTTTGATCTAGAAAAGCCTGTTTTTCTAATCTGTTGATTTCATTCTGCAAATGTTTAAAAACTTCATTGGCAATGTCATGGTTCTCTGGATTTTTGTCAGGATGCCATTTCAAATACAACCGCCTAATAATCTTTTTTCGTTCCGATTCTGGAAGCTTCCATGCTTGCTCCACCACAGATGTCACTTCTTTTAAGATTTCTGGTAAAGAATTAACCTTAAGCTTTTTGGGGGACTGATGTTTGGAAG... | pathogenic | 207,116 |
Does the variant impacting SACS (sacsin molecular chaperone) on chromosome 13, position 23332766, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Charlevoix-Saguenay_spastic_ataxia', 'Spastic_paraplegia'] | TCGGGATGCTGAGGTTGAAAATGTTCGTCTGGAGGCCCTGTCTGCATTTTGATCTAGAAAAGCCTGTTTTTCTAATCTGTTGATTTCATTCTGCAAATGTTTAAAAACTTCATTGGCAATGTCATGGTTCTCTGGATTTTTGTCAGGATGCCATTTCAAATACAACCGCCTAATAATCTTTTTTCGTTCCGATTCTGGAAGCTTCCATGCTTGCTCCACCACAGATGTCACTTCTTTTAAGATTTCTGGTAAAGAATTAACCTTAAGCTTTTTGGGGGACTGATGTTTGGAAGAAGTCTTGTGGCTCTCTCTACCAGAGA... | TCGGGATGCTGAGGTTGAAAATGTTCGTCTGGAGGCCCTGTCTGCATTTTGATCTAGAAAAGCCTGTTTTTCTAATCTGTTGATTTCATTCTGCAAATGTTTAAAAACTTCATTGGCAATGTCATGGTTCTCTGGATTTTTGTCAGGATGCCATTTCAAATACAACCGCCTAATAATCTTTTTTCGTTCCGATTCTGGAAGCTTCCATGCTTGCTCCACCACAGATGTCACTTCTTTTAAGATTTCTGGTAAAGAATTAACCTTAAGCTTTTTGGGGGACTGATGTTTGGAAGAAGTCTTGTGGCTCTCTCTACCAGAGA... | pathogenic | 207,117 |
For chromosome 13, position 23332862, gene SACS (sacsin molecular chaperone): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Charlevoix-Saguenay_spastic_ataxia', 'Spastic_paraplegia'] | ATGTTTAAAAACTTCATTGGCAATGTCATGGTTCTCTGGATTTTTGTCAGGATGCCATTTCAAATACAACCGCCTAATAATCTTTTTTCGTTCCGATTCTGGAAGCTTCCATGCTTGCTCCACCACAGATGTCACTTCTTTTAAGATTTCTGGTAAAGAATTAACCTTAAGCTTTTTGGGGGACTGATGTTTGGAAGAAGTCTTGTGGCTCTCTCTACCAGAGAAAAGAGGAGGAATGCTTCTCAGGCCAGGGGTGAGGAACTCAGTGGGGCTGGTTGGTGTAGAAGGAGCACTGTCCCTGCTTTGAGAGCTTTCCTCAG... | ATGTTTAAAAACTTCATTGGCAATGTCATGGTTCTCTGGATTTTTGTCAGGATGCCATTTCAAATACAACCGCCTAATAATCTTTTTTCGTTCCGATTCTGGAAGCTTCCATGCTTGCTCCACCACAGATGTCACTTCTTTTAAGATTTCTGGTAAAGAATTAACCTTAAGCTTTTTGGGGGACTGATGTTTGGAAGAAGTCTTGTGGCTCTCTCTACCAGAGAAAAGAGGAGGAATGCTTCTCAGGCCAGGGGTGAGGAACTCAGTGGGGCTGGTTGGTGTAGAAGGAGCACTGTCCCTGCTTTGAGAGCTTTCCTCAG... | pathogenic | 207,120 |
The mutation in gene SACS (sacsin molecular chaperone) at chromosome 13, position 23332934—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Charlevoix-Saguenay_spastic_ataxia', 'Spastic_paraplegia'] | CCTAATAATCTTTTTTCGTTCCGATTCTGGAAGCTTCCATGCTTGCTCCACCACAGATGTCACTTCTTTTAAGATTTCTGGTAAAGAATTAACCTTAAGCTTTTTGGGGGACTGATGTTTGGAAGAAGTCTTGTGGCTCTCTCTACCAGAGAAAAGAGGAGGAATGCTTCTCAGGCCAGGGGTGAGGAACTCAGTGGGGCTGGTTGGTGTAGAAGGAGCACTGTCCCTGCTTTGAGAGCTTTCCTCAGGTCTTGAAAACTTATACAGATCAAGAGAGCTAACTATTTTATATTCACTATAACCAATATCTATCTGATATA... | CCTAATAATCTTTTTTCGTTCCGATTCTGGAAGCTTCCATGCTTGCTCCACCACAGATGTCACTTCTTTTAAGATTTCTGGTAAAGAATTAACCTTAAGCTTTTTGGGGGACTGATGTTTGGAAGAAGTCTTGTGGCTCTCTCTACCAGAGAAAAGAGGAGGAATGCTTCTCAGGCCAGGGGTGAGGAACTCAGTGGGGCTGGTTGGTGTAGAAGGAGCACTGTCCCTGCTTTGAGAGCTTTCCTCAGGTCTTGAAAACTTATACAGATCAAGAGAGCTAACTATTTTATATTCACTATAACCAATATCTATCTGATATA... | pathogenic | 207,123 |
Evaluate this variant at chromosome 13, position 23333052, gene SACS (sacsin molecular chaperone): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Charlevoix-Saguenay_spastic_ataxia'] | TTGGAAGAAGTCTTGTGGCTCTCTCTACCAGAGAAAAGAGGAGGAATGCTTCTCAGGCCAGGGGTGAGGAACTCAGTGGGGCTGGTTGGTGTAGAAGGAGCACTGTCCCTGCTTTGAGAGCTTTCCTCAGGTCTTGAAAACTTATACAGATCAAGAGAGCTAACTATTTTATATTCACTATAACCAATATCTATCTGATATATCTTTCCTAGAAAACTAGAATTGTCAGCATCTTCTCTTTCAACTTCTTGTACAATAATTGCATATGTGTATGTTGGCTGGTATGATCCATAGATATCACCACCTTCAGCATCAACAAG... | TTGGAAGAAGTCTTGTGGCTCTCTCTACCAGAGAAAAGAGGAGGAATGCTTCTCAGGCCAGGGGTGAGGAACTCAGTGGGGCTGGTTGGTGTAGAAGGAGCACTGTCCCTGCTTTGAGAGCTTTCCTCAGGTCTTGAAAACTTATACAGATCAAGAGAGCTAACTATTTTATATTCACTATAACCAATATCTATCTGATATATCTTTCCTAGAAAACTAGAATTGTCAGCATCTTCTCTTTCAACTTCTTGTACAATAATTGCATATGTGTATGTTGGCTGGTATGATCCATAGATATCACCACCTTCAGCATCAACAAG... | pathogenic | 207,127 |
Considering the variant on chromosome 13, location 23333186, involving gene SACS (sacsin molecular chaperone), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Charlevoix-Saguenay_spastic_ataxia', 'Spastic_paraplegia'] | TGAAAACTTATACAGATCAAGAGAGCTAACTATTTTATATTCACTATAACCAATATCTATCTGATATATCTTTCCTAGAAAACTAGAATTGTCAGCATCTTCTCTTTCAACTTCTTGTACAATAATTGCATATGTGTATGTTGGCTGGTATGATCCATAGATATCACCACCTTCAGCATCAACAAGGTACCCAACATATTCTCCCGGGTAAAAAACATTCATTGGGTCCATAAGCAGAGTGTAATGAATTTCAGCAGGAATTGGTGTGCCAGGCATTGGAAGTTCCAGTTTTGATGGCTCCGAAGAGTCATATTTCACTC... | TGAAAACTTATACAGATCAAGAGAGCTAACTATTTTATATTCACTATAACCAATATCTATCTGATATATCTTTCCTAGAAAACTAGAATTGTCAGCATCTTCTCTTTCAACTTCTTGTACAATAATTGCATATGTGTATGTTGGCTGGTATGATCCATAGATATCACCACCTTCAGCATCAACAAGGTACCCAACATATTCTCCCGGGTAAAAAACATTCATTGGGTCCATAAGCAGAGTGTAATGAATTTCAGCAGGAATTGGTGTGCCAGGCATTGGAAGTTCCAGTTTTGATGGCTCCGAAGAGTCATATTTCACTC... | pathogenic | 207,131 |
For chromosome 13, position 23333408, gene SACS (sacsin molecular chaperone): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Charlevoix-Saguenay_spastic_ataxia', 'Spastic_paraplegia'] | TGGGTCCATAAGCAGAGTGTAATGAATTTCAGCAGGAATTGGTGTGCCAGGCATTGGAAGTTCCAGTTTTGATGGCTCCGAAGAGTCATATTTCACTCCTAAACTGTCAAGTTTCTCACCAATCCTGTAAATATCATTGCATCCTAGCATAGCAATTAAATATGAAGTGTCAGAAATCAAATTGTCAGTTGCTGATTTAAGAGTCATTGCCAATGCTAACAGGAAATTAATGTCTTTACTGTCTGAATGTTGAATGTAGAGCAAGATGACTGCATTACCAAATCGCTTCAAAAAAGCAAAAGTTTCACTTCTGCTGTGGG... | TGGGTCCATAAGCAGAGTGTAATGAATTTCAGCAGGAATTGGTGTGCCAGGCATTGGAAGTTCCAGTTTTGATGGCTCCGAAGAGTCATATTTCACTCCTAAACTGTCAAGTTTCTCACCAATCCTGTAAATATCATTGCATCCTAGCATAGCAATTAAATATGAAGTGTCAGAAATCAAATTGTCAGTTGCTGATTTAAGAGTCATTGCCAATGCTAACAGGAAATTAATGTCTTTACTGTCTGAATGTTGAATGTAGAGCAAGATGACTGCATTACCAAATCGCTTCAAAAAAGCAAAAGTTTCACTTCTGCTGTGGG... | pathogenic | 207,135 |
Classify the chromosome 13 variant at position 23333492 affecting gene SACS (sacsin molecular chaperone) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Charlevoix-Saguenay_spastic_ataxia', 'Spastic_paraplegia'] | GTCATATTTCACTCCTAAACTGTCAAGTTTCTCACCAATCCTGTAAATATCATTGCATCCTAGCATAGCAATTAAATATGAAGTGTCAGAAATCAAATTGTCAGTTGCTGATTTAAGAGTCATTGCCAATGCTAACAGGAAATTAATGTCTTTACTGTCTGAATGTTGAATGTAGAGCAAGATGACTGCATTACCAAATCGCTTCAAAAAAGCAAAAGTTTCACTTCTGCTGTGGGGAATAGGATTAAAACCTTTAACTCTTAATGTTGTTTGAAGCTTTTCAAAGCAGGATACTTTCAATCCTTCTCTTAGGGCTTTGC... | GTCATATTTCACTCCTAAACTGTCAAGTTTCTCACCAATCCTGTAAATATCATTGCATCCTAGCATAGCAATTAAATATGAAGTGTCAGAAATCAAATTGTCAGTTGCTGATTTAAGAGTCATTGCCAATGCTAACAGGAAATTAATGTCTTTACTGTCTGAATGTTGAATGTAGAGCAAGATGACTGCATTACCAAATCGCTTCAAAAAAGCAAAAGTTTCACTTCTGCTGTGGGGAATAGGATTAAAACCTTTAACTCTTAATGTTGTTTGAAGCTTTTCAAAGCAGGATACTTTCAATCCTTCTCTTAGGGCTTTGC... | pathogenic | 207,136 |
A genetic alteration at chromosome 13, position 23333850, in gene SACS (sacsin molecular chaperone)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Charlevoix-Saguenay_spastic_ataxia'] | TTATCATTTTCATGCTTCATAATTCTAATCAGTCCTGTAATGAACTGTTCAGAAGACAAGAGTAACTGCAATCTTCCTTGAAGAGAACACAACGCTCCAAACTGACAAACTTTGGGAGTCTCTTCATCTAATTGTTCTTCAAGTATACTGCTCAATAATCGAGGTCTAAGTTTTTGAGGAAAGAGCATTATCAACTTAGTGTGAAATCCATGGTCTTTCCCTAAGTAGCACTGGCTGAGATCAACTAACATTTGCACACCAATATTCCCCTGGATTCTACTTTTATAATGTGGCGCATCGTCAAACACTAAGATGCTTGA... | TTATCATTTTCATGCTTCATAATTCTAATCAGTCCTGTAATGAACTGTTCAGAAGACAAGAGTAACTGCAATCTTCCTTGAAGAGAACACAACGCTCCAAACTGACAAACTTTGGGAGTCTCTTCATCTAATTGTTCTTCAAGTATACTGCTCAATAATCGAGGTCTAAGTTTTTGAGGAAAGAGCATTATCAACTTAGTGTGAAATCCATGGTCTTTCCCTAAGTAGCACTGGCTGAGATCAACTAACATTTGCACACCAATATTCCCCTGGATTCTACTTTTATAATGTGGCGCATCGTCAAACACTAAGATGCTTGA... | pathogenic | 207,144 |
Assess the variant on chromosome 13, position 23333918, impacting SACS (sacsin molecular chaperone): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Charlevoix-Saguenay_spastic_ataxia', 'Spastic_paraplegia'] | CAATCTTCCTTGAAGAGAACACAACGCTCCAAACTGACAAACTTTGGGAGTCTCTTCATCTAATTGTTCTTCAAGTATACTGCTCAATAATCGAGGTCTAAGTTTTTGAGGAAAGAGCATTATCAACTTAGTGTGAAATCCATGGTCTTTCCCTAAGTAGCACTGGCTGAGATCAACTAACATTTGCACACCAATATTCCCCTGGATTCTACTTTTATAATGTGGCGCATCGTCAAACACTAAGATGCTTGACTTTACCAATCTACCATCCTGGCTTGGGAGGTAAAGCGCAAGGTCTCGTACATTCTCGAGATCACTCC... | CAATCTTCCTTGAAGAGAACACAACGCTCCAAACTGACAAACTTTGGGAGTCTCTTCATCTAATTGTTCTTCAAGTATACTGCTCAATAATCGAGGTCTAAGTTTTTGAGGAAAGAGCATTATCAACTTAGTGTGAAATCCATGGTCTTTCCCTAAGTAGCACTGGCTGAGATCAACTAACATTTGCACACCAATATTCCCCTGGATTCTACTTTTATAATGTGGCGCATCGTCAAACACTAAGATGCTTGACTTTACCAATCTACCATCCTGGCTTGGGAGGTAAAGCGCAAGGTCTCGTACATTCTCGAGATCACTCC... | pathogenic | 207,146 |
Gene SACS (sacsin molecular chaperone) variant at chromosome 13, position 23333996—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Charlevoix-Saguenay_spastic_ataxia'] | ACTGCTCAATAATCGAGGTCTAAGTTTTTGAGGAAAGAGCATTATCAACTTAGTGTGAAATCCATGGTCTTTCCCTAAGTAGCACTGGCTGAGATCAACTAACATTTGCACACCAATATTCCCCTGGATTCTACTTTTATAATGTGGCGCATCGTCAAACACTAAGATGCTTGACTTTACCAATCTACCATCCTGGCTTGGGAGGTAAAGCGCAAGGTCTCGTACATTCTCGAGATCACTCCTCACCTTGACTGAATCATTCTGTAGACTCCTGAACAGACCAGAAACTACTCTCTTAACTGTACGCATTTCATTAGGAT... | ACTGCTCAATAATCGAGGTCTAAGTTTTTGAGGAAAGAGCATTATCAACTTAGTGTGAAATCCATGGTCTTTCCCTAAGTAGCACTGGCTGAGATCAACTAACATTTGCACACCAATATTCCCCTGGATTCTACTTTTATAATGTGGCGCATCGTCAAACACTAAGATGCTTGACTTTACCAATCTACCATCCTGGCTTGGGAGGTAAAGCGCAAGGTCTCGTACATTCTCGAGATCACTCCTCACCTTGACTGAATCATTCTGTAGACTCCTGAACAGACCAGAAACTACTCTCTTAACTGTACGCATTTCATTAGGAT... | pathogenic | 207,147 |
Variant chromosome 13, position 23334215, gene SACS (sacsin molecular chaperone): benign or pathogenic? Disease(s)? | pathogenic; ['Charlevoix-Saguenay_spastic_ataxia', 'Spastic_paraplegia'] | TCGTACATTCTCGAGATCACTCCTCACCTTGACTGAATCATTCTGTAGACTCCTGAACAGACCAGAAACTACTCTCTTAACTGTACGCATTTCATTAGGATCTAATTGTTTGCCCTCAGAATTTTTAAATATGCGGCTCAACACTTCAACATATTGCTTAGTTGAAATAATATCTTCAGTACCTAAGTGTTTGAACAACTGGTGAAATGTGCCAAGTTCTAAAGGTAGCTTGTACAAATAAGGTTTAAAATCAGATTCATATTCTAGGTTTATGACTACCTCCTCAGGCTTCAGAAGTTTCCAACCATCTTCTACCATCA... | TCGTACATTCTCGAGATCACTCCTCACCTTGACTGAATCATTCTGTAGACTCCTGAACAGACCAGAAACTACTCTCTTAACTGTACGCATTTCATTAGGATCTAATTGTTTGCCCTCAGAATTTTTAAATATGCGGCTCAACACTTCAACATATTGCTTAGTTGAAATAATATCTTCAGTACCTAAGTGTTTGAACAACTGGTGAAATGTGCCAAGTTCTAAAGGTAGCTTGTACAAATAAGGTTTAAAATCAGATTCATATTCTAGGTTTATGACTACCTCCTCAGGCTTCAGAAGTTTCCAACCATCTTCTACCATCA... | pathogenic | 207,153 |
Mutation at chromosome 13, position 23334247, within SACS (sacsin molecular chaperone): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Charlevoix-Saguenay_spastic_ataxia'] | CTGAATCATTCTGTAGACTCCTGAACAGACCAGAAACTACTCTCTTAACTGTACGCATTTCATTAGGATCTAATTGTTTGCCCTCAGAATTTTTAAATATGCGGCTCAACACTTCAACATATTGCTTAGTTGAAATAATATCTTCAGTACCTAAGTGTTTGAACAACTGGTGAAATGTGCCAAGTTCTAAAGGTAGCTTGTACAAATAAGGTTTAAAATCAGATTCATATTCTAGGTTTATGACTACCTCCTCAGGCTTCAGAAGTTTCCAACCATCTTCTACCATCACAAAAGCAACCCCTCGCAACTGAAAACGAAAT... | CTGAATCATTCTGTAGACTCCTGAACAGACCAGAAACTACTCTCTTAACTGTACGCATTTCATTAGGATCTAATTGTTTGCCCTCAGAATTTTTAAATATGCGGCTCAACACTTCAACATATTGCTTAGTTGAAATAATATCTTCAGTACCTAAGTGTTTGAACAACTGGTGAAATGTGCCAAGTTCTAAAGGTAGCTTGTACAAATAAGGTTTAAAATCAGATTCATATTCTAGGTTTATGACTACCTCCTCAGGCTTCAGAAGTTTCCAACCATCTTCTACCATCACAAAAGCAACCCCTCGCAACTGAAAACGAAAT... | pathogenic | 207,155 |
Clinical significance of chromosome 13, position 23334311, gene SACS (sacsin molecular chaperone): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Charlevoix-Saguenay_spastic_ataxia', 'Spastic_paraplegia'] | AGGATCTAATTGTTTGCCCTCAGAATTTTTAAATATGCGGCTCAACACTTCAACATATTGCTTAGTTGAAATAATATCTTCAGTACCTAAGTGTTTGAACAACTGGTGAAATGTGCCAAGTTCTAAAGGTAGCTTGTACAAATAAGGTTTAAAATCAGATTCATATTCTAGGTTTATGACTACCTCCTCAGGCTTCAGAAGTTTCCAACCATCTTCTACCATCACAAAAGCAACCCCTCGCAACTGAAAACGAAATTCCCTTTTTTCTGCACTGAGGAATTCATATATGCTCCTTAAGACTTTTGCTCTAGTTTTTACCA... | AGGATCTAATTGTTTGCCCTCAGAATTTTTAAATATGCGGCTCAACACTTCAACATATTGCTTAGTTGAAATAATATCTTCAGTACCTAAGTGTTTGAACAACTGGTGAAATGTGCCAAGTTCTAAAGGTAGCTTGTACAAATAAGGTTTAAAATCAGATTCATATTCTAGGTTTATGACTACCTCCTCAGGCTTCAGAAGTTTCCAACCATCTTCTACCATCACAAAAGCAACCCCTCGCAACTGAAAACGAAATTCCCTTTTTTCTGCACTGAGGAATTCATATATGCTCCTTAAGACTTTTGCTCTAGTTTTTACCA... | pathogenic | 207,156 |
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