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 |
|---|---|---|---|---|---|
Gene mutation in ATP6V1B1 (ATPase H+ transporting V1 subunit B1) at chromosome 2, position 70958053—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Renal_tubular_acidosis_with_progressive_nerve_deafness'] | AAATACAAGCATACTTTTACTAGCACATGTGAAGGAATCTCTCTAAAATTGACCTCATTGGTTTTGTTCTCAGCAAACTGATCTGGGCCATTCAACATAGTTTTTATTGTGCCTGGTGTTGATGCCTGTTCTCTTTTTACAATACATTCATGACCATTGGATGATATCAATTTGACATACATGGCATCAGGGACTTCATAGCCACCATAGGTTTTCTCCTCTCCATCCATTTTGTTCTTATGAAATCCTCCTTTGCTTCCCAAGGAACTTGAGAAGTTTTTCATTAGCCCCACAGCCACCATAGCCGGGTCCCCATGTAC... | AAATACAAGCATACTTTTACTAGCACATGTGAAGGAATCTCTCTAAAATTGACCTCATTGGTTTTGTTCTCAGCAAACTGATCTGGGCCATTCAACATAGTTTTTATTGTGCCTGGTGTTGATGCCTGTTCTCTTTTTACAATACATTCATGACCATTGGATGATATCAATTTGACATACATGGCATCAGGGACTTCATAGCCACCATAGGTTTTCTCCTCTCCATCCATTTTGTTCTTATGAAATCCTCCTTTGCTTCCCAAGGAACTTGAGAAGTTTTTCATTAGCCCCACAGCCACCATAGCCGGGTCCCCATGTAC... | pathogenic | 38,484 |
Assess the variant on chromosome 2, position 70958401, impacting ATP6V1B1 (ATPase H+ transporting V1 subunit B1): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Renal_tubular_acidosis_with_progressive_nerve_deafness'] | CTGACCCGGCTGCCTGCCCCCATGGGTTCCAGGGCAGTCCCTTCCTTTTTAATGCTGAATGATATTCTATTGTATGAATACATCATATTTTGTTTATCCATTCATCAGTTGATGGACATTGAGTTATTTTCACTTTTGGCTATTATGAATATTGCCAGACTGCTTTCCAAAGTGGCTGCACTATTTTCTATTCCTCCCAGCACTGTATGAGCATTCAAATTTCTTCACATCCTCAACACTTGTTATTATTATTTTATTTTATTTTTTTGAGACGGAGTCTTTCTCTGTTGGCCAGGCTGGAGTACAGTTGCATGATCTTG... | CTGACCCGGCTGCCTGCCCCCATGGGTTCCAGGGCAGTCCCTTCCTTTTTAATGCTGAATGATATTCTATTGTATGAATACATCATATTTTGTTTATCCATTCATCAGTTGATGGACATTGAGTTATTTTCACTTTTGGCTATTATGAATATTGCCAGACTGCTTTCCAAAGTGGCTGCACTATTTTCTATTCCTCCCAGCACTGTATGAGCATTCAAATTTCTTCACATCCTCAACACTTGTTATTATTATTTTATTTTATTTTTTTGAGACGGAGTCTTTCTCTGTTGGCCAGGCTGGAGTACAGTTGCATGATCTTG... | pathogenic | 38,492 |
Clinical classification of chromosome 2, position 70959989, gene ATP6V1B1 (ATPase H+ transporting V1 subunit B1): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Distal_renal_tubular_acidosis', 'Renal_tubular_acidosis_with_progressive_nerve_deafness'] | TAGAGGGGAGAGAACAGTTTGGGACTGGGTCAGGGAGGGCCGGAGGAGGAGAAGGGACTTTGCCTCCAGTCTCACTGTCACGTGGCTGCTCTCCCCTCCTGCCAGTTTGCCCAGTATGCGGAGATCGTCCACTTCACCCTCCCAGATGGGACTCAGAGGAGCGGGCAGGTGCTTGAGGTGGCTGGCACCAAGGCGATTGTTCAGGTGAGTGGGGTCAATGGGACATTGGCTAGTTAAATCAATGAATTAACCCATAAAGTTCCCACACTATCTACAAACTCTGAAGGCAGGAAATGGTCTATTTCCCTGAGAGCACAGAA... | TAGAGGGGAGAGAACAGTTTGGGACTGGGTCAGGGAGGGCCGGAGGAGGAGAAGGGACTTTGCCTCCAGTCTCACTGTCACGTGGCTGCTCTCCCCTCCTGCCAGTTTGCCCAGTATGCGGAGATCGTCCACTTCACCCTCCCAGATGGGACTCAGAGGAGCGGGCAGGTGCTTGAGGTGGCTGGCACCAAGGCGATTGTTCAGGTGAGTGGGGTCAATGGGACATTGGCTAGTTAAATCAATGAATTAACCCATAAAGTTCCCACACTATCTACAAACTCTGAAGGCAGGAAATGGTCTATTTCCCTGAGAGCACAGAA... | pathogenic | 38,507 |
Regarding the variant found on chromosome 2 at position 70963255 in gene ATP6V1B1 (ATPase H+ transporting V1 subunit B1): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Renal_tubular_acidosis_with_progressive_nerve_deafness'] | GGTAGGATGGGCCCTGGGTGGCCTGAAGGAGGGGAAGCCAGGGGATTGGGGGAAAAAAGATAGCTTCAGGAACGGGAGGCCTGGGAGGCCAGGGAGGTGGGCAGAGCAGCAGCTGGCGACAGGAGGGGCAGGGATGGCACTGAGCAGAGCTGGACTTAAAGAAGTCTCAGCCTCTCCAGGGGGATCTGACAAGGCCCTATGAGGACTGGGGCAGCAAACCCAGTGCCTGCCCTTTCCAGCCCCGGGGTCACCCCATGGCCTTGGTGTCTTCACCCCCAGCGACTGGTAGCTGGTCAGTCCACAGGCTTTCCTGAGGACAC... | GGTAGGATGGGCCCTGGGTGGCCTGAAGGAGGGGAAGCCAGGGGATTGGGGGAAAAAAGATAGCTTCAGGAACGGGAGGCCTGGGAGGCCAGGGAGGTGGGCAGAGCAGCAGCTGGCGACAGGAGGGGCAGGGATGGCACTGAGCAGAGCTGGACTTAAAGAAGTCTCAGCCTCTCCAGGGGGATCTGACAAGGCCCTATGAGGACTGGGGCAGCAAACCCAGTGCCTGCCCTTTCCAGCCCCGGGGTCACCCCATGGCCTTGGTGTCTTCACCCCCAGCGACTGGTAGCTGGTCAGTCCACAGGCTTTCCTGAGGACAC... | pathogenic | 38,529 |
A genetic variant at chromosome 2, position 70964442, affecting gene ATP6V1B1 (ATPase H+ transporting V1 subunit B1)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['ATP6V1B1-related_disorder', 'Inborn_genetic_diseases', 'Renal_tubular_acidosis_with_progressive_nerve_deafness'] | ACAGAGCTAAAGCAGGTGCCCCCAACTCATCTACAGTGTGATATGCCAGAGTCCTTCCCCTTCGGTCCACAGGGGACAAAAGCCACTCTCATCTTCATCAGGCACTCCTGGCCCTGCCTGGCTTTTCCCACCCAACTTGCCTCCTGGCCTCAGCCCCTGTCCCCTTTCCTACCTTGGACAGTAGGCGAGGTGTGTGTTGGAGTCTGCCTACTCCCAGGAACCATGGCCCTGGCCTAGGGGATGGGGGCAAGGGCTCATCTTATCCATTCCTCTGCCACTATGCACAACACCAGCTTCCCAGTTCACCTTGCGCTCAGCCC... | ACAGAGCTAAAGCAGGTGCCCCCAACTCATCTACAGTGTGATATGCCAGAGTCCTTCCCCTTCGGTCCACAGGGGACAAAAGCCACTCTCATCTTCATCAGGCACTCCTGGCCCTGCCTGGCTTTTCCCACCCAACTTGCCTCCTGGCCTCAGCCCCTGTCCCCTTTCCTACCTTGGACAGTAGGCGAGGTGTGTGTTGGAGTCTGCCTACTCCCAGGAACCATGGCCCTGGCCTAGGGGATGGGGGCAAGGGCTCATCTTATCCATTCCTCTGCCACTATGCACAACACCAGCTTCCCAGTTCACCTTGCGCTCAGCCC... | pathogenic | 38,536 |
Is the chromosome 2, position 70964442 variant in ATP6V1B1 (ATPase H+ transporting V1 subunit B1) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Renal_tubular_acidosis_with_progressive_nerve_deafness'] | ACAGAGCTAAAGCAGGTGCCCCCAACTCATCTACAGTGTGATATGCCAGAGTCCTTCCCCTTCGGTCCACAGGGGACAAAAGCCACTCTCATCTTCATCAGGCACTCCTGGCCCTGCCTGGCTTTTCCCACCCAACTTGCCTCCTGGCCTCAGCCCCTGTCCCCTTTCCTACCTTGGACAGTAGGCGAGGTGTGTGTTGGAGTCTGCCTACTCCCAGGAACCATGGCCCTGGCCTAGGGGATGGGGGCAAGGGCTCATCTTATCCATTCCTCTGCCACTATGCACAACACCAGCTTCCCAGTTCACCTTGCGCTCAGCCC... | ACAGAGCTAAAGCAGGTGCCCCCAACTCATCTACAGTGTGATATGCCAGAGTCCTTCCCCTTCGGTCCACAGGGGACAAAAGCCACTCTCATCTTCATCAGGCACTCCTGGCCCTGCCTGGCTTTTCCCACCCAACTTGCCTCCTGGCCTCAGCCCCTGTCCCCTTTCCTACCTTGGACAGTAGGCGAGGTGTGTGTTGGAGTCTGCCTACTCCCAGGAACCATGGCCCTGGCCTAGGGGATGGGGGCAAGGGCTCATCTTATCCATTCCTCTGCCACTATGCACAACACCAGCTTCCCAGTTCACCTTGCGCTCAGCCC... | pathogenic | 38,537 |
Evaluate if the mutation on chromosome 2 at position 70964744 in ATP6V1B1 (ATPase H+ transporting V1 subunit B1) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Renal_tubular_acidosis_with_progressive_nerve_deafness'] | TCACCTTGCGCTCAGCCCCCAGGCTATGTGGTGCATTAGCCCAGGCCTCCAGGCTCTCTAAACACCTGGCTACACCTCCAGGATCGAGCGGATCATCACCCCGCGCCTGGCGCTGACCACTGCTGAATTCCTTGCCTACCAGTGTGAGAAGCATGTGCTGGTCATACTGACGGACATGAGTTCCTATGCAGAGGCCTTGCGGGAGGTAAGCTGGCTAGCAAGGGGTGTCAGATTCCTCCCTACCCCTCCCTAAGCCTGACACCCCAGACGGTCACCCTGCAAATAGAGGGGAGCTGGTCCACCCAAGCCTGCCCCACTCC... | TCACCTTGCGCTCAGCCCCCAGGCTATGTGGTGCATTAGCCCAGGCCTCCAGGCTCTCTAAACACCTGGCTACACCTCCAGGATCGAGCGGATCATCACCCCGCGCCTGGCGCTGACCACTGCTGAATTCCTTGCCTACCAGTGTGAGAAGCATGTGCTGGTCATACTGACGGACATGAGTTCCTATGCAGAGGCCTTGCGGGAGGTAAGCTGGCTAGCAAGGGGTGTCAGATTCCTCCCTACCCCTCCCTAAGCCTGACACCCCAGACGGTCACCCTGCAAATAGAGGGGAGCTGGTCCACCCAAGCCTGCCCCACTCC... | pathogenic | 38,545 |
Classify the chromosome 2 variant at position 70964835 affecting gene ATP6V1B1 (ATPase H+ transporting V1 subunit B1) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Renal_tubular_acidosis_with_progressive_nerve_deafness'] | ATCATCACCCCGCGCCTGGCGCTGACCACTGCTGAATTCCTTGCCTACCAGTGTGAGAAGCATGTGCTGGTCATACTGACGGACATGAGTTCCTATGCAGAGGCCTTGCGGGAGGTAAGCTGGCTAGCAAGGGGTGTCAGATTCCTCCCTACCCCTCCCTAAGCCTGACACCCCAGACGGTCACCCTGCAAATAGAGGGGAGCTGGTCCACCCAAGCCTGCCCCACTCCCATGAGTTCCAGGGCTTGGTCTCAGCCTGGCCATTCCTCCCCTGCCCCCCACTCCATTTCTCACAGGGTCACTGAACCTCCCACCCACCCT... | ATCATCACCCCGCGCCTGGCGCTGACCACTGCTGAATTCCTTGCCTACCAGTGTGAGAAGCATGTGCTGGTCATACTGACGGACATGAGTTCCTATGCAGAGGCCTTGCGGGAGGTAAGCTGGCTAGCAAGGGGTGTCAGATTCCTCCCTACCCCTCCCTAAGCCTGACACCCCAGACGGTCACCCTGCAAATAGAGGGGAGCTGGTCCACCCAAGCCTGCCCCACTCCCATGAGTTCCAGGGCTTGGTCTCAGCCTGGCCATTCCTCCCCTGCCCCCCACTCCATTTCTCACAGGGTCACTGAACCTCCCACCCACCCT... | pathogenic | 38,547 |
Chromosome 2, position 70964840, gene ATP6V1B1 (ATPase H+ transporting V1 subunit B1): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Renal_tubular_acidosis_with_progressive_nerve_deafness'] | CACCCCGCGCCTGGCGCTGACCACTGCTGAATTCCTTGCCTACCAGTGTGAGAAGCATGTGCTGGTCATACTGACGGACATGAGTTCCTATGCAGAGGCCTTGCGGGAGGTAAGCTGGCTAGCAAGGGGTGTCAGATTCCTCCCTACCCCTCCCTAAGCCTGACACCCCAGACGGTCACCCTGCAAATAGAGGGGAGCTGGTCCACCCAAGCCTGCCCCACTCCCATGAGTTCCAGGGCTTGGTCTCAGCCTGGCCATTCCTCCCCTGCCCCCCACTCCATTTCTCACAGGGTCACTGAACCTCCCACCCACCCTTCCTA... | CACCCCGCGCCTGGCGCTGACCACTGCTGAATTCCTTGCCTACCAGTGTGAGAAGCATGTGCTGGTCATACTGACGGACATGAGTTCCTATGCAGAGGCCTTGCGGGAGGTAAGCTGGCTAGCAAGGGGTGTCAGATTCCTCCCTACCCCTCCCTAAGCCTGACACCCCAGACGGTCACCCTGCAAATAGAGGGGAGCTGGTCCACCCAAGCCTGCCCCACTCCCATGAGTTCCAGGGCTTGGTCTCAGCCTGGCCATTCCTCCCCTGCCCCCCACTCCATTTCTCACAGGGTCACTGAACCTCCCACCCACCCTTCCTA... | pathogenic | 38,548 |
Variant in gene ATP6V1B1 (ATPase H+ transporting V1 subunit B1), located at chromosome 2 position 70964977: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Renal_tubular_acidosis_with_progressive_nerve_deafness'] | TCCTCCCTACCCCTCCCTAAGCCTGACACCCCAGACGGTCACCCTGCAAATAGAGGGGAGCTGGTCCACCCAAGCCTGCCCCACTCCCATGAGTTCCAGGGCTTGGTCTCAGCCTGGCCATTCCTCCCCTGCCCCCCACTCCATTTCTCACAGGGTCACTGAACCTCCCACCCACCCTTCCTAGCTTCAGCCTCTCATCCCCTTTCTTACCCCAGTGCCCATGGATATTGCAGGTCTCTGCTGCTAGAGAGGAGGTGCCTGGGCGCCGAGGGTTTCCTGGATATATGTACACAGACCTGGCCACCATCTACGAGCGGGCG... | TCCTCCCTACCCCTCCCTAAGCCTGACACCCCAGACGGTCACCCTGCAAATAGAGGGGAGCTGGTCCACCCAAGCCTGCCCCACTCCCATGAGTTCCAGGGCTTGGTCTCAGCCTGGCCATTCCTCCCCTGCCCCCCACTCCATTTCTCACAGGGTCACTGAACCTCCCACCCACCCTTCCTAGCTTCAGCCTCTCATCCCCTTTCTTACCCCAGTGCCCATGGATATTGCAGGTCTCTGCTGCTAGAGAGGAGGTGCCTGGGCGCCGAGGGTTTCCTGGATATATGTACACAGACCTGGCCACCATCTACGAGCGGGCG... | pathogenic | 38,551 |
A genetic variant on chromosome 2, position 71109848, affects the gene MCEE (methylmalonyl-CoA epimerase). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | benign | TCTTATGAAAGCAAAATTTTATTGATTCATAGATTAAAGCAATAAATACCTTTTATAAAAAATGATTGCTGTATTTCCAAGTTCATGCAGCTCAGGATGTATTTTACTTCTCTTGAGACTTCCTCTTTGACAACTTACAAGTTTGGGGAGGTTTTTCTGTTGTTATTGATTTCTAGTTTGATTCATTTATGGTCACATATTTTATATGTTTCACTTACTTTAAATGTGTTAGAGTTTGTTTCATAACCCAAGATATGGTCTATCTTGGTGAATGTCCCATAAATGCCCAAAAAATGTGTATTACGTATTGGCTGATAGTA... | TCTTATGAAAGCAAAATTTTATTGATTCATAGATTAAAGCAATAAATACCTTTTATAAAAAATGATTGCTGTATTTCCAAGTTCATGCAGCTCAGGATGTATTTTACTTCTCTTGAGACTTCCTCTTTGACAACTTACAAGTTTGGGGAGGTTTTTCTGTTGTTATTGATTTCTAGTTTGATTCATTTATGGTCACATATTTTATATGTTTCACTTACTTTAAATGTGTTAGAGTTTGTTTCATAACCCAAGATATGGTCTATCTTGGTGAATGTCCCATAAATGCCCAAAAAATGTGTATTACGTATTGGCTGATAGTA... | benign | 38,558 |
Evaluate the clinical significance of the mutation at chromosome 2, position 71480899 in gene DYSF (dysferlin): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2B', 'DYSF-related_disorder', 'Distal_myopathy_with_anterior_tibial_onset', 'Miyoshi_muscular_dystrophy_1', 'Qualitative_or_quantitative_defects_of_dysferlin'] | CTCTTCTTCAAATCCTCCCTCACCCCTTGCCTGCCTCCTTGATCCCTCTCTGCTTCCCTCCTCCTCTTCTCCAGGCTCTGAACCTGGCAGGGCGGGGCCGACCCCACAGGAGGCTGCACCTCTCCAGGCTGGATGGACTCTGATGTGCTTGGCTCTAAAGCCTACTGGGGCTCCTGGGAGATGTGGCCAGAGGCTCGAGGGACTTTCGTGGTCCAGGCAGGACTCTCTGAAAGCTGAGCCATCCAGGTGGAGACCAAAGGCTTTCCACTGAGTCTTGCACAGGTTGGGTGGAATGAGGTGATCTTTAAGAGCCGACCCAA... | CTCTTCTTCAAATCCTCCCTCACCCCTTGCCTGCCTCCTTGATCCCTCTCTGCTTCCCTCCTCCTCTTCTCCAGGCTCTGAACCTGGCAGGGCGGGGCCGACCCCACAGGAGGCTGCACCTCTCCAGGCTGGATGGACTCTGATGTGCTTGGCTCTAAAGCCTACTGGGGCTCCTGGGAGATGTGGCCAGAGGCTCGAGGGACTTTCGTGGTCCAGGCAGGACTCTCTGAAAGCTGAGCCATCCAGGTGGAGACCAAAGGCTTTCCACTGAGTCTTGCACAGGTTGGGTGGAATGAGGTGATCTTTAAGAGCCGACCCAA... | pathogenic | 38,591 |
Regarding the variant found on chromosome 2 at position 71480918 in gene DYSF (dysferlin): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy', 'Miyoshi_muscular_dystrophy_1', 'Qualitative_or_quantitative_defects_of_dysferlin'] | TCACCCCTTGCCTGCCTCCTTGATCCCTCTCTGCTTCCCTCCTCCTCTTCTCCAGGCTCTGAACCTGGCAGGGCGGGGCCGACCCCACAGGAGGCTGCACCTCTCCAGGCTGGATGGACTCTGATGTGCTTGGCTCTAAAGCCTACTGGGGCTCCTGGGAGATGTGGCCAGAGGCTCGAGGGACTTTCGTGGTCCAGGCAGGACTCTCTGAAAGCTGAGCCATCCAGGTGGAGACCAAAGGCTTTCCACTGAGTCTTGCACAGGTTGGGTGGAATGAGGTGATCTTTAAGAGCCGACCCAAATAAAAGTTCTGTGTCAGG... | TCACCCCTTGCCTGCCTCCTTGATCCCTCTCTGCTTCCCTCCTCCTCTTCTCCAGGCTCTGAACCTGGCAGGGCGGGGCCGACCCCACAGGAGGCTGCACCTCTCCAGGCTGGATGGACTCTGATGTGCTTGGCTCTAAAGCCTACTGGGGCTCCTGGGAGATGTGGCCAGAGGCTCGAGGGACTTTCGTGGTCCAGGCAGGACTCTCTGAAAGCTGAGCCATCCAGGTGGAGACCAAAGGCTTTCCACTGAGTCTTGCACAGGTTGGGTGGAATGAGGTGATCTTTAAGAGCCGACCCAAATAAAAGTTCTGTGTCAGG... | pathogenic | 38,593 |
Regarding the variant found on chromosome 2 at position 71481896 in gene DYSF (dysferlin): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2B', 'Qualitative_or_quantitative_defects_of_dysferlin'] | TGCCTCAGATGGACTCCTTCAAGGCCTTGGAGGGTGAAGTGGATTTTGTTTAAATGGAAATAAAATTAACATATCATAAAATTCACCATTTGAACAATTTCCACATATATAATTTAATTGGTTTTAGGTTGCAATATTGTGCAACCATCATCATGATCTAATTCCAGAACATTTTTGTCACCTCAAGAAGAAACCCTATACCCATTAATCAATCACGTCCCCATTTCTATTTTCCCTTTCCCTTCTCTTAGCCCCTGGAAACAACTAATCTGCTTTCTGTCTCTACAGATTTGCCTATTCTGGACATTTCTTATAGATGG... | TGCCTCAGATGGACTCCTTCAAGGCCTTGGAGGGTGAAGTGGATTTTGTTTAAATGGAAATAAAATTAACATATCATAAAATTCACCATTTGAACAATTTCCACATATATAATTTAATTGGTTTTAGGTTGCAATATTGTGCAACCATCATCATGATCTAATTCCAGAACATTTTTGTCACCTCAAGAAGAAACCCTATACCCATTAATCAATCACGTCCCCATTTCTATTTTCCCTTTCCCTTCTCTTAGCCCCTGGAAACAACTAATCTGCTTTCTGTCTCTACAGATTTGCCTATTCTGGACATTTCTTATAGATGG... | pathogenic | 38,599 |
Does the genetic variant at chromosome 2, position 71481909, impacting gene DYSF (dysferlin), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Abnormality_of_the_musculature', 'Qualitative_or_quantitative_defects_of_dysferlin'] | CTCCTTCAAGGCCTTGGAGGGTGAAGTGGATTTTGTTTAAATGGAAATAAAATTAACATATCATAAAATTCACCATTTGAACAATTTCCACATATATAATTTAATTGGTTTTAGGTTGCAATATTGTGCAACCATCATCATGATCTAATTCCAGAACATTTTTGTCACCTCAAGAAGAAACCCTATACCCATTAATCAATCACGTCCCCATTTCTATTTTCCCTTTCCCTTCTCTTAGCCCCTGGAAACAACTAATCTGCTTTCTGTCTCTACAGATTTGCCTATTCTGGACATTTCTTATAGATGGAATCATATAATTT... | CTCCTTCAAGGCCTTGGAGGGTGAAGTGGATTTTGTTTAAATGGAAATAAAATTAACATATCATAAAATTCACCATTTGAACAATTTCCACATATATAATTTAATTGGTTTTAGGTTGCAATATTGTGCAACCATCATCATGATCTAATTCCAGAACATTTTTGTCACCTCAAGAAGAAACCCTATACCCATTAATCAATCACGTCCCCATTTCTATTTTCCCTTTCCCTTCTCTTAGCCCCTGGAAACAACTAATCTGCTTTCTGTCTCTACAGATTTGCCTATTCTGGACATTTCTTATAGATGGAATCATATAATTT... | pathogenic | 38,600 |
Chromosome 2, position 71503315, gene DYSF (dysferlin): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2B', 'Distal_myopathy_with_anterior_tibial_onset', 'Miyoshi_muscular_dystrophy_1', 'Qualitative_or_quantitative_defects_of_dysferlin'] | ACCTTGAGCGTATATTACATTTACTGCCTTGCTAGCAAGGGCACGAGCAAGGCGGCAGAGTCTGTTGCTTTCAAGAAGGATGGAAAAAGAGGGATTTCATTGTTGAGAAGCTTAAATAAGTGGCTAGTTTTTAATTTTAAGTTTTATTATGATAAATCGACATAAACGCTACCATTTTAACCATTTGTGAGCATACATTTCAGTGGCGTTACATGCATTCATGATGTCATGCAGTCATTCCCACCGTCCACCTCCAAAATGTTCTCATCTTCTAAAACTGAAACTCTGTAACTGTTCAATAATAAATCCTCACTTCCTCC... | ACCTTGAGCGTATATTACATTTACTGCCTTGCTAGCAAGGGCACGAGCAAGGCGGCAGAGTCTGTTGCTTTCAAGAAGGATGGAAAAAGAGGGATTTCATTGTTGAGAAGCTTAAATAAGTGGCTAGTTTTTAATTTTAAGTTTTATTATGATAAATCGACATAAACGCTACCATTTTAACCATTTGTGAGCATACATTTCAGTGGCGTTACATGCATTCATGATGTCATGCAGTCATTCCCACCGTCCACCTCCAAAATGTTCTCATCTTCTAAAACTGAAACTCTGTAACTGTTCAATAATAAATCCTCACTTCCTCC... | pathogenic | 38,610 |
Clinically, how would you classify the variant at chromosome 2, position 71511816, gene DYSF (dysferlin): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy', 'Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2B', 'Distal_myopathy_with_anterior_tibial_onset', 'Miyoshi_muscular_dystrophy_1', 'Qualitative_or_quantitative_defects_of_dysferlin'] | TTTATTTATTATTTTATTTTATGTTTTTGAGGCAGAGTCTTGCTCTGTAACCCAGGCTGGAGTGCAGTGGTGTGATCGACTCATTGCGACCTCTGCCGCCAAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCAGGGATTACAGGTGCATGCCACCACGCCTGGCTAATATGTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGAGATCCGCCTGGCTCGGCCTCCCAAAGGGATTACAGGCATGAACCACCTCGCCCAGGCTCTTTTGATGTGTTT... | TTTATTTATTATTTTATTTTATGTTTTTGAGGCAGAGTCTTGCTCTGTAACCCAGGCTGGAGTGCAGTGGTGTGATCGACTCATTGCGACCTCTGCCGCCAAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCAGGGATTACAGGTGCATGCCACCACGCCTGGCTAATATGTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGAGATCCGCCTGGCTCGGCCTCCCAAAGGGATTACAGGCATGAACCACCTCGCCCAGGCTCTTTTGATGTGTTT... | pathogenic | 38,614 |
Is the variant located on chromosome 2 at position 71511866, gene DYSF (dysferlin), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Miyoshi_muscular_dystrophy_1', 'Qualitative_or_quantitative_defects_of_dysferlin'] | CCCAGGCTGGAGTGCAGTGGTGTGATCGACTCATTGCGACCTCTGCCGCCAAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCAGGGATTACAGGTGCATGCCACCACGCCTGGCTAATATGTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGAGATCCGCCTGGCTCGGCCTCCCAAAGGGATTACAGGCATGAACCACCTCGCCCAGGCTCTTTTGATGTGTTTTTAAGAATCAGTCATTCATTGAGCATTTCCTTCCTTTCTGGTGCAAGAAG... | CCCAGGCTGGAGTGCAGTGGTGTGATCGACTCATTGCGACCTCTGCCGCCAAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCAGGGATTACAGGTGCATGCCACCACGCCTGGCTAATATGTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGAGATCCGCCTGGCTCGGCCTCCCAAAGGGATTACAGGCATGAACCACCTCGCCCAGGCTCTTTTGATGTGTTTTTAAGAATCAGTCATTCATTGAGCATTTCCTTCCTTTCTGGTGCAAGAAG... | pathogenic | 38,616 |
Chromosome 2, position 71511888, gene DYSF (dysferlin): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2B', 'Distal_myopathy_with_anterior_tibial_onset', 'Miyoshi_muscular_dystrophy_1'] | TGATCGACTCATTGCGACCTCTGCCGCCAAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCAGGGATTACAGGTGCATGCCACCACGCCTGGCTAATATGTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGAGATCCGCCTGGCTCGGCCTCCCAAAGGGATTACAGGCATGAACCACCTCGCCCAGGCTCTTTTGATGTGTTTTTAAGAATCAGTCATTCATTGAGCATTTCCTTCCTTTCTGGTGCAAGAAGATGGTCCAGGCTCATCTTGTAT... | TGATCGACTCATTGCGACCTCTGCCGCCAAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCAGGGATTACAGGTGCATGCCACCACGCCTGGCTAATATGTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGAGATCCGCCTGGCTCGGCCTCCCAAAGGGATTACAGGCATGAACCACCTCGCCCAGGCTCTTTTGATGTGTTTTTAAGAATCAGTCATTCATTGAGCATTTCCTTCCTTTCTGGTGCAAGAAGATGGTCCAGGCTCATCTTGTAT... | pathogenic | 38,617 |
Classify the chromosome 2 variant at position 71513722 affecting gene DYSF (dysferlin) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2B', 'Distal_myopathy_with_anterior_tibial_onset', 'Miyoshi_muscular_dystrophy_1', 'Qualitative_or_quantitative_defects_of_dysferlin'] | CAGCCTCCTGCAAACCTGGCTCTTGTCAGAGCCATATTCCTTGGTGGAGGGATGCCAGAAACAGGGAAGATACTGGAGGGCAGTGGTCCGAGGCCAGCGCACCAACCTGTCCCCCACGTCTCATCTCTTCCAGGCCTCGCTGGTCCTGCAGGTGTCCTACACACCGCTGCCTGGAGCTGTGCCCCTGTTCCCGCCCCCTACTCCTCTGGAGCCCTCCCCGACTCTGCCTGACCTGGATGTAGTGGCAGGTGGGTAGCCCACGTTGGCCTGGCTGGGCCCCAGCAAGAAGGCCGGCAGTGGCACTTGAGCCTGGGGGCTGG... | CAGCCTCCTGCAAACCTGGCTCTTGTCAGAGCCATATTCCTTGGTGGAGGGATGCCAGAAACAGGGAAGATACTGGAGGGCAGTGGTCCGAGGCCAGCGCACCAACCTGTCCCCCACGTCTCATCTCTTCCAGGCCTCGCTGGTCCTGCAGGTGTCCTACACACCGCTGCCTGGAGCTGTGCCCCTGTTCCCGCCCCCTACTCCTCTGGAGCCCTCCCCGACTCTGCCTGACCTGGATGTAGTGGCAGGTGGGTAGCCCACGTTGGCCTGGCTGGGCCCCAGCAAGAAGGCCGGCAGTGGCACTTGAGCCTGGGGGCTGG... | pathogenic | 38,624 |
Variant in DYSF (dysferlin), chromosome 2, position 71513912—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2B', 'Distal_myopathy_with_anterior_tibial_onset', 'Miyoshi_muscular_dystrophy_1', 'Qualitative_or_quantitative_defects_of_dysferlin'] | CCGCCCCCTACTCCTCTGGAGCCCTCCCCGACTCTGCCTGACCTGGATGTAGTGGCAGGTGGGTAGCCCACGTTGGCCTGGCTGGGCCCCAGCAAGAAGGCCGGCAGTGGCACTTGAGCCTGGGGGCTGGGAGCTGCAGCGAGGCTTCCCAGCCTTTGCTGCCCTCCCCAGGTTGGAGGCTGCCCAGGCCTGGAAAGAAGAGGGTGCAGTGGGTGGGAAGTCCTGAGGGCTGCCTTCTGCTGTGCAGAAAGAAGGGGCAGCAGGCACGTTCCCTTGGGCGGTGCAGGGAGTAATGTGAGGGTGCCTCCAAGCCCCAGCTG... | CCGCCCCCTACTCCTCTGGAGCCCTCCCCGACTCTGCCTGACCTGGATGTAGTGGCAGGTGGGTAGCCCACGTTGGCCTGGCTGGGCCCCAGCAAGAAGGCCGGCAGTGGCACTTGAGCCTGGGGGCTGGGAGCTGCAGCGAGGCTTCCCAGCCTTTGCTGCCCTCCCCAGGTTGGAGGCTGCCCAGGCCTGGAAAGAAGAGGGTGCAGTGGGTGGGAAGTCCTGAGGGCTGCCTTCTGCTGTGCAGAAAGAAGGGGCAGCAGGCACGTTCCCTTGGGCGGTGCAGGGAGTAATGTGAGGGTGCCTCCAAGCCCCAGCTG... | pathogenic | 38,632 |
Is the genetic change at chromosome 2, position 71516180, within gene DYSF (dysferlin) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2B', 'Miyoshi_muscular_dystrophy_1', 'Qualitative_or_quantitative_defects_of_dysferlin'] | CTGTGGTTTTGCGCTTAAAAAAAAAAAAAAAAAAAAAGTCACTGCAGAGATTCAGCATGTCTTTGCATCTCTGATCAGAGAAAAACCTGATTTTTCTAACCAGGGTATATCCAACCAGCAAGCTCCTGGCTATTCAGGTGTGGTCTGTGTCCAGCACCTTCCGCATCACCTGTATACTTGTTAGACATGCAGAGTCTACTCAGACCTGCTCTACCAGAATCTGCATTTTAACAAGATCCTTACCTCAAAGAAGCTCTGTCTAACATCTTTTTTTTCTCCTTATATCTATCCCCCTGCATATAGCCATGGATTTTTCTGAG... | CTGTGGTTTTGCGCTTAAAAAAAAAAAAAAAAAAAAAGTCACTGCAGAGATTCAGCATGTCTTTGCATCTCTGATCAGAGAAAAACCTGATTTTTCTAACCAGGGTATATCCAACCAGCAAGCTCCTGGCTATTCAGGTGTGGTCTGTGTCCAGCACCTTCCGCATCACCTGTATACTTGTTAGACATGCAGAGTCTACTCAGACCTGCTCTACCAGAATCTGCATTTTAACAAGATCCTTACCTCAAAGAAGCTCTGTCTAACATCTTTTTTTTCTCCTTATATCTATCCCCCTGCATATAGCCATGGATTTTTCTGAG... | pathogenic | 38,653 |
Variant on chromosome 2, at position 71516209, affecting DYSF (dysferlin): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2B', 'Distal_myopathy_with_anterior_tibial_onset', 'Miyoshi_muscular_dystrophy_1', 'Qualitative_or_quantitative_defects_of_dysferlin'] | AAAAAAAAGTCACTGCAGAGATTCAGCATGTCTTTGCATCTCTGATCAGAGAAAAACCTGATTTTTCTAACCAGGGTATATCCAACCAGCAAGCTCCTGGCTATTCAGGTGTGGTCTGTGTCCAGCACCTTCCGCATCACCTGTATACTTGTTAGACATGCAGAGTCTACTCAGACCTGCTCTACCAGAATCTGCATTTTAACAAGATCCTTACCTCAAAGAAGCTCTGTCTAACATCTTTTTTTTCTCCTTATATCTATCCCCCTGCATATAGCCATGGATTTTTCTGAGAGTCATGTGGAATTTGAATTTGTTCAAGC... | AAAAAAAAGTCACTGCAGAGATTCAGCATGTCTTTGCATCTCTGATCAGAGAAAAACCTGATTTTTCTAACCAGGGTATATCCAACCAGCAAGCTCCTGGCTATTCAGGTGTGGTCTGTGTCCAGCACCTTCCGCATCACCTGTATACTTGTTAGACATGCAGAGTCTACTCAGACCTGCTCTACCAGAATCTGCATTTTAACAAGATCCTTACCTCAAAGAAGCTCTGTCTAACATCTTTTTTTTCTCCTTATATCTATCCCCCTGCATATAGCCATGGATTTTTCTGAGAGTCATGTGGAATTTGAATTTGTTCAAGC... | pathogenic | 38,654 |
Does the chromosome 2 mutation at position 71516213 within gene DYSF (dysferlin) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Miyoshi_muscular_dystrophy_1', 'Qualitative_or_quantitative_defects_of_dysferlin'] | AAAAGTCACTGCAGAGATTCAGCATGTCTTTGCATCTCTGATCAGAGAAAAACCTGATTTTTCTAACCAGGGTATATCCAACCAGCAAGCTCCTGGCTATTCAGGTGTGGTCTGTGTCCAGCACCTTCCGCATCACCTGTATACTTGTTAGACATGCAGAGTCTACTCAGACCTGCTCTACCAGAATCTGCATTTTAACAAGATCCTTACCTCAAAGAAGCTCTGTCTAACATCTTTTTTTTCTCCTTATATCTATCCCCCTGCATATAGCCATGGATTTTTCTGAGAGTCATGTGGAATTTGAATTTGTTCAAGCTCAT... | AAAAGTCACTGCAGAGATTCAGCATGTCTTTGCATCTCTGATCAGAGAAAAACCTGATTTTTCTAACCAGGGTATATCCAACCAGCAAGCTCCTGGCTATTCAGGTGTGGTCTGTGTCCAGCACCTTCCGCATCACCTGTATACTTGTTAGACATGCAGAGTCTACTCAGACCTGCTCTACCAGAATCTGCATTTTAACAAGATCCTTACCTCAAAGAAGCTCTGTCTAACATCTTTTTTTTCTCCTTATATCTATCCCCCTGCATATAGCCATGGATTTTTCTGAGAGTCATGTGGAATTTGAATTTGTTCAAGCTCAT... | pathogenic | 38,655 |
Mutation found at chromosome 2 position 71516241, gene DYSF (dysferlin): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy', 'Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2B', 'Distal_myopathy_with_anterior_tibial_onset', 'Miyoshi_muscular_dystrophy_1', 'Qualitative_or_quantitative_defects_of_dysferlin'] | TTTGCATCTCTGATCAGAGAAAAACCTGATTTTTCTAACCAGGGTATATCCAACCAGCAAGCTCCTGGCTATTCAGGTGTGGTCTGTGTCCAGCACCTTCCGCATCACCTGTATACTTGTTAGACATGCAGAGTCTACTCAGACCTGCTCTACCAGAATCTGCATTTTAACAAGATCCTTACCTCAAAGAAGCTCTGTCTAACATCTTTTTTTTCTCCTTATATCTATCCCCCTGCATATAGCCATGGATTTTTCTGAGAGTCATGTGGAATTTGAATTTGTTCAAGCTCATCACAGAATAAAAGCTATTAATATGAACA... | TTTGCATCTCTGATCAGAGAAAAACCTGATTTTTCTAACCAGGGTATATCCAACCAGCAAGCTCCTGGCTATTCAGGTGTGGTCTGTGTCCAGCACCTTCCGCATCACCTGTATACTTGTTAGACATGCAGAGTCTACTCAGACCTGCTCTACCAGAATCTGCATTTTAACAAGATCCTTACCTCAAAGAAGCTCTGTCTAACATCTTTTTTTTCTCCTTATATCTATCCCCCTGCATATAGCCATGGATTTTTCTGAGAGTCATGTGGAATTTGAATTTGTTCAAGCTCATCACAGAATAAAAGCTATTAATATGAACA... | pathogenic | 38,656 |
Does the chromosome 2 mutation at position 71516995 within gene DYSF (dysferlin) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2B', 'Distal_myopathy_with_anterior_tibial_onset', 'Miyoshi_muscular_dystrophy_1', 'Qualitative_or_quantitative_defects_of_dysferlin'] | TATCCTCCCATATTATGCAATTTACAAAAAAAAAAACAGTTGGTCAGTAAATAACAGTTGATTCTAAAGTGGAGCCAGTAAATATCTTATTTTTTTCCATAGAATTGCCTTAATATTGTAAAATTTCATATTTTAAAATATCTTACCTAATATTTGGAAGCATAGACGTTCTTGAAGTCTTCATTTACTTACAGCTCAATGGCAAAAATTCTTAATTTATTTCTCAGAATGTAAGAAAGCATTGCATCTTATAAAGAATAAAGACTATTTCTGGGGTCACTTCACTGTGTAAGTTCGACCTCTGAGGGAATTGTCAATAA... | TATCCTCCCATATTATGCAATTTACAAAAAAAAAAACAGTTGGTCAGTAAATAACAGTTGATTCTAAAGTGGAGCCAGTAAATATCTTATTTTTTTCCATAGAATTGCCTTAATATTGTAAAATTTCATATTTTAAAATATCTTACCTAATATTTGGAAGCATAGACGTTCTTGAAGTCTTCATTTACTTACAGCTCAATGGCAAAAATTCTTAATTTATTTCTCAGAATGTAAGAAAGCATTGCATCTTATAAAGAATAAAGACTATTTCTGGGGTCACTTCACTGTGTAAGTTCGACCTCTGAGGGAATTGTCAATAA... | pathogenic | 38,664 |
Assess the variant on chromosome 2, position 71517008, impacting DYSF (dysferlin): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Qualitative_or_quantitative_defects_of_dysferlin'] | TATGCAATTTACAAAAAAAAAAACAGTTGGTCAGTAAATAACAGTTGATTCTAAAGTGGAGCCAGTAAATATCTTATTTTTTTCCATAGAATTGCCTTAATATTGTAAAATTTCATATTTTAAAATATCTTACCTAATATTTGGAAGCATAGACGTTCTTGAAGTCTTCATTTACTTACAGCTCAATGGCAAAAATTCTTAATTTATTTCTCAGAATGTAAGAAAGCATTGCATCTTATAAAGAATAAAGACTATTTCTGGGGTCACTTCACTGTGTAAGTTCGACCTCTGAGGGAATTGTCAATAAAGAATATTCAAGC... | TATGCAATTTACAAAAAAAAAAACAGTTGGTCAGTAAATAACAGTTGATTCTAAAGTGGAGCCAGTAAATATCTTATTTTTTTCCATAGAATTGCCTTAATATTGTAAAATTTCATATTTTAAAATATCTTACCTAATATTTGGAAGCATAGACGTTCTTGAAGTCTTCATTTACTTACAGCTCAATGGCAAAAATTCTTAATTTATTTCTCAGAATGTAAGAAAGCATTGCATCTTATAAAGAATAAAGACTATTTCTGGGGTCACTTCACTGTGTAAGTTCGACCTCTGAGGGAATTGTCAATAAAGAATATTCAAGC... | pathogenic | 38,666 |
Evaluate if the mutation on chromosome 2 at position 71517035 in DYSF (dysferlin) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2B', 'Miyoshi_muscular_dystrophy_1'] | TGGTCAGTAAATAACAGTTGATTCTAAAGTGGAGCCAGTAAATATCTTATTTTTTTCCATAGAATTGCCTTAATATTGTAAAATTTCATATTTTAAAATATCTTACCTAATATTTGGAAGCATAGACGTTCTTGAAGTCTTCATTTACTTACAGCTCAATGGCAAAAATTCTTAATTTATTTCTCAGAATGTAAGAAAGCATTGCATCTTATAAAGAATAAAGACTATTTCTGGGGTCACTTCACTGTGTAAGTTCGACCTCTGAGGGAATTGTCAATAAAGAATATTCAAGCCACTTAAAAATGCCAGTATCAATGGGG... | TGGTCAGTAAATAACAGTTGATTCTAAAGTGGAGCCAGTAAATATCTTATTTTTTTCCATAGAATTGCCTTAATATTGTAAAATTTCATATTTTAAAATATCTTACCTAATATTTGGAAGCATAGACGTTCTTGAAGTCTTCATTTACTTACAGCTCAATGGCAAAAATTCTTAATTTATTTCTCAGAATGTAAGAAAGCATTGCATCTTATAAAGAATAAAGACTATTTCTGGGGTCACTTCACTGTGTAAGTTCGACCTCTGAGGGAATTGTCAATAAAGAATATTCAAGCCACTTAAAAATGCCAGTATCAATGGGG... | pathogenic | 38,669 |
For chromosome 2, position 71520250, gene DYSF (dysferlin): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | benign | TTACGTAAAGTAAAGGTAACTAGTAATTGCACAGACTAAAGGAGACCTGTATGATTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGCAACCTCTGCTTCCCAGATTCAAGTGATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGATTAGAGGCGTGTGCTACCACGCCTGGCAGTTTTTTTTTTTTTTTGGTATTTTTAGTACAGATGGGGTTTCACCATCTTGGTCAGTCTGGTCTTGAACTCCTGACCTTGTGATCTGGCTACCTTGGCCT... | TTACGTAAAGTAAAGGTAACTAGTAATTGCACAGACTAAAGGAGACCTGTATGATTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGCAACCTCTGCTTCCCAGATTCAAGTGATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGATTAGAGGCGTGTGCTACCACGCCTGGCAGTTTTTTTTTTTTTTTGGTATTTTTAGTACAGATGGGGTTTCACCATCTTGGTCAGTCTGGTCTTGAACTCCTGACCTTGTGATCTGGCTACCTTGGCCT... | benign | 38,678 |
Clinical impact (benign or pathogenic) of the variant at chromosome 2, location 71520847, gene DYSF (dysferlin): what disease(s) if pathogenic? | pathogenic; ['Qualitative_or_quantitative_defects_of_dysferlin'] | AATAATTGCTGGGACCAGGCGCAGTGGCTCATGCCTGTGATCCCAGTGCTTTGGGAGGCCAAGGTGGGCAGATCACTTGAAGTCAGTAGTTCAAGACCAGTCTGGCCAACATGGTAAAACCCCGCCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGTATGCGCCTGTAATCCCAGCTACTCAGGAGGCCGAGGCAGGAGAATCGCTTGAACCTGGGTGGCAGAGGTTGCAGTGAGCCAAGATCGCACCATTGCACTCCAGCCTGGATGACAGAGCGACACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAA... | AATAATTGCTGGGACCAGGCGCAGTGGCTCATGCCTGTGATCCCAGTGCTTTGGGAGGCCAAGGTGGGCAGATCACTTGAAGTCAGTAGTTCAAGACCAGTCTGGCCAACATGGTAAAACCCCGCCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGTATGCGCCTGTAATCCCAGCTACTCAGGAGGCCGAGGCAGGAGAATCGCTTGAACCTGGGTGGCAGAGGTTGCAGTGAGCCAAGATCGCACCATTGCACTCCAGCCTGGATGACAGAGCGACACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAA... | pathogenic | 38,687 |
Variant at chromosome position 71526259, chromosome 2, gene DYSF (dysferlin): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Miyoshi_muscular_dystrophy_1', 'Qualitative_or_quantitative_defects_of_dysferlin'] | CTTTCCTTTGGGCCACCACCCAGCCCTTTGGTAGTCTAATCAGTTTATGTGTCTGTCTTCATCACTGAGATTCAGTTTCTTGATGATGGGGACAATATAGCAAATGTGATATCTTTTATCTCCCCTCTTGCCTAGTACGGCAGGTCTTGTACACAGTAGGTGCTCAGTCAGTGCTTATTGTCTAGGGGAATAGACATTTTTATGGATGCCTGAAAGATGATTGTTTTCTTCTGATATGAGCTGAGGAGAATAAACGCAGAACACATCCCTTTGGGCATGCTGTGATATGGGCATTCTGGGATTGAGGGTTTTGCAGCAAG... | CTTTCCTTTGGGCCACCACCCAGCCCTTTGGTAGTCTAATCAGTTTATGTGTCTGTCTTCATCACTGAGATTCAGTTTCTTGATGATGGGGACAATATAGCAAATGTGATATCTTTTATCTCCCCTCTTGCCTAGTACGGCAGGTCTTGTACACAGTAGGTGCTCAGTCAGTGCTTATTGTCTAGGGGAATAGACATTTTTATGGATGCCTGAAAGATGATTGTTTTCTTCTGATATGAGCTGAGGAGAATAAACGCAGAACACATCCCTTTGGGCATGCTGTGATATGGGCATTCTGGGATTGAGGGTTTTGCAGCAAG... | pathogenic | 38,700 |
Is the genetic mutation found on chromosome 2 at position 71526325, within the gene DYSF (dysferlin), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2B', 'Miyoshi_muscular_dystrophy_1', 'Qualitative_or_quantitative_defects_of_dysferlin'] | GAGATTCAGTTTCTTGATGATGGGGACAATATAGCAAATGTGATATCTTTTATCTCCCCTCTTGCCTAGTACGGCAGGTCTTGTACACAGTAGGTGCTCAGTCAGTGCTTATTGTCTAGGGGAATAGACATTTTTATGGATGCCTGAAAGATGATTGTTTTCTTCTGATATGAGCTGAGGAGAATAAACGCAGAACACATCCCTTTGGGCATGCTGTGATATGGGCATTCTGGGATTGAGGGTTTTGCAGCAAGGATCCTGAAGCAGGTTTCTACGTGTCAAGTGTGACTGAGTGAGAAATGGGGTGAGGCTAGTCCAGG... | GAGATTCAGTTTCTTGATGATGGGGACAATATAGCAAATGTGATATCTTTTATCTCCCCTCTTGCCTAGTACGGCAGGTCTTGTACACAGTAGGTGCTCAGTCAGTGCTTATTGTCTAGGGGAATAGACATTTTTATGGATGCCTGAAAGATGATTGTTTTCTTCTGATATGAGCTGAGGAGAATAAACGCAGAACACATCCCTTTGGGCATGCTGTGATATGGGCATTCTGGGATTGAGGGTTTTGCAGCAAGGATCCTGAAGCAGGTTTCTACGTGTCAAGTGTGACTGAGTGAGAAATGGGGTGAGGCTAGTCCAGG... | pathogenic | 38,703 |
Located at chromosome 2 position 71526328, the variant affecting gene DYSF (dysferlin)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Qualitative_or_quantitative_defects_of_dysferlin'] | ATTCAGTTTCTTGATGATGGGGACAATATAGCAAATGTGATATCTTTTATCTCCCCTCTTGCCTAGTACGGCAGGTCTTGTACACAGTAGGTGCTCAGTCAGTGCTTATTGTCTAGGGGAATAGACATTTTTATGGATGCCTGAAAGATGATTGTTTTCTTCTGATATGAGCTGAGGAGAATAAACGCAGAACACATCCCTTTGGGCATGCTGTGATATGGGCATTCTGGGATTGAGGGTTTTGCAGCAAGGATCCTGAAGCAGGTTTCTACGTGTCAAGTGTGACTGAGTGAGAAATGGGGTGAGGCTAGTCCAGGCAA... | ATTCAGTTTCTTGATGATGGGGACAATATAGCAAATGTGATATCTTTTATCTCCCCTCTTGCCTAGTACGGCAGGTCTTGTACACAGTAGGTGCTCAGTCAGTGCTTATTGTCTAGGGGAATAGACATTTTTATGGATGCCTGAAAGATGATTGTTTTCTTCTGATATGAGCTGAGGAGAATAAACGCAGAACACATCCCTTTGGGCATGCTGTGATATGGGCATTCTGGGATTGAGGGTTTTGCAGCAAGGATCCTGAAGCAGGTTTCTACGTGTCAAGTGTGACTGAGTGAGAAATGGGGTGAGGCTAGTCCAGGCAA... | pathogenic | 38,704 |
Is the genetic variant on chromosome 2, position 71526335, gene DYSF (dysferlin), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy', 'Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2B'] | TTCTTGATGATGGGGACAATATAGCAAATGTGATATCTTTTATCTCCCCTCTTGCCTAGTACGGCAGGTCTTGTACACAGTAGGTGCTCAGTCAGTGCTTATTGTCTAGGGGAATAGACATTTTTATGGATGCCTGAAAGATGATTGTTTTCTTCTGATATGAGCTGAGGAGAATAAACGCAGAACACATCCCTTTGGGCATGCTGTGATATGGGCATTCTGGGATTGAGGGTTTTGCAGCAAGGATCCTGAAGCAGGTTTCTACGTGTCAAGTGTGACTGAGTGAGAAATGGGGTGAGGCTAGTCCAGGCAACTGTCCA... | TTCTTGATGATGGGGACAATATAGCAAATGTGATATCTTTTATCTCCCCTCTTGCCTAGTACGGCAGGTCTTGTACACAGTAGGTGCTCAGTCAGTGCTTATTGTCTAGGGGAATAGACATTTTTATGGATGCCTGAAAGATGATTGTTTTCTTCTGATATGAGCTGAGGAGAATAAACGCAGAACACATCCCTTTGGGCATGCTGTGATATGGGCATTCTGGGATTGAGGGTTTTGCAGCAAGGATCCTGAAGCAGGTTTCTACGTGTCAAGTGTGACTGAGTGAGAAATGGGGTGAGGCTAGTCCAGGCAACTGTCCA... | pathogenic | 38,706 |
Is the genetic change at chromosome 2, position 71526341, within gene DYSF (dysferlin) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Miyoshi_muscular_dystrophy_1', 'Qualitative_or_quantitative_defects_of_dysferlin'] | ATGATGGGGACAATATAGCAAATGTGATATCTTTTATCTCCCCTCTTGCCTAGTACGGCAGGTCTTGTACACAGTAGGTGCTCAGTCAGTGCTTATTGTCTAGGGGAATAGACATTTTTATGGATGCCTGAAAGATGATTGTTTTCTTCTGATATGAGCTGAGGAGAATAAACGCAGAACACATCCCTTTGGGCATGCTGTGATATGGGCATTCTGGGATTGAGGGTTTTGCAGCAAGGATCCTGAAGCAGGTTTCTACGTGTCAAGTGTGACTGAGTGAGAAATGGGGTGAGGCTAGTCCAGGCAACTGTCCAAGGAGT... | ATGATGGGGACAATATAGCAAATGTGATATCTTTTATCTCCCCTCTTGCCTAGTACGGCAGGTCTTGTACACAGTAGGTGCTCAGTCAGTGCTTATTGTCTAGGGGAATAGACATTTTTATGGATGCCTGAAAGATGATTGTTTTCTTCTGATATGAGCTGAGGAGAATAAACGCAGAACACATCCCTTTGGGCATGCTGTGATATGGGCATTCTGGGATTGAGGGTTTTGCAGCAAGGATCCTGAAGCAGGTTTCTACGTGTCAAGTGTGACTGAGTGAGAAATGGGGTGAGGCTAGTCCAGGCAACTGTCCAAGGAGT... | pathogenic | 38,707 |
Located at chromosome 2 position 71528367, the variant affecting gene DYSF (dysferlin)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2B', 'Miyoshi_muscular_dystrophy_1', 'Qualitative_or_quantitative_defects_of_dysferlin'] | GTCTTCCGGGCCGAGGACTTGCCGCAGAGTGCGTGGGGCGCGCCCTTGGGTGGGAGGTCTGCAGGAGGCTGGAGGCGCAGGGCTGGTGGGGGTGGGCGATGGCGGGCGGGGTCAGCTCCCTGGGGGAAGGAGAGGCGTCTAGGAAAACAATCAGAATTTAACGAAAAGTAATCAGTGCTGGTGGAGTTACAAAGATTCAAGAACTCTTGAGAGTAATAGCTGCCTCTCAGCTCCATTCCAATGTCCTCTGGGCCTGGTCTGGCAATATTTGGCCACTCTGTGGACCCATTTTCTTAGTTCTCATTGAGAAGTCAGCACCA... | GTCTTCCGGGCCGAGGACTTGCCGCAGAGTGCGTGGGGCGCGCCCTTGGGTGGGAGGTCTGCAGGAGGCTGGAGGCGCAGGGCTGGTGGGGGTGGGCGATGGCGGGCGGGGTCAGCTCCCTGGGGGAAGGAGAGGCGTCTAGGAAAACAATCAGAATTTAACGAAAAGTAATCAGTGCTGGTGGAGTTACAAAGATTCAAGAACTCTTGAGAGTAATAGCTGCCTCTCAGCTCCATTCCAATGTCCTCTGGGCCTGGTCTGGCAATATTTGGCCACTCTGTGGACCCATTTTCTTAGTTCTCATTGAGAAGTCAGCACCA... | pathogenic | 38,717 |
Does the variant impacting DYSF (dysferlin) on chromosome 2, position 71535283, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2B', 'Miyoshi_muscular_dystrophy_1', 'Qualitative_or_quantitative_defects_of_dysferlin'] | GTCTTGAACTCCTGACCTCAAGTGACCCACCTGCCTTGGGCTCCCAAAGTGCTGGGATTAAGGCATGAGCCACCGTGCCCAGCCGACTATAGATTTTTGTCTTTTACCTTTTAGCACAAATGGCTGCACATCACACCACTCTGCGCCTTGCTTTTTTCACTTAATCATATAACTTGGAGATGGTTTCACGTCACTACCTAGAGGCATCCTCATTCTGTTTGACAGCTGCCTAGTACTCCATTGTACGGACGGACCATACTTCATTTAACCTGCTTTCCATTGGTGGACACATGGGTTGTTCCAAATCCTTGCTAGTTCAA... | GTCTTGAACTCCTGACCTCAAGTGACCCACCTGCCTTGGGCTCCCAAAGTGCTGGGATTAAGGCATGAGCCACCGTGCCCAGCCGACTATAGATTTTTGTCTTTTACCTTTTAGCACAAATGGCTGCACATCACACCACTCTGCGCCTTGCTTTTTTCACTTAATCATATAACTTGGAGATGGTTTCACGTCACTACCTAGAGGCATCCTCATTCTGTTTGACAGCTGCCTAGTACTCCATTGTACGGACGGACCATACTTCATTTAACCTGCTTTCCATTGGTGGACACATGGGTTGTTCCAAATCCTTGCTAGTTCAA... | pathogenic | 38,732 |
Variant at chromosome 2, position 71535290, gene DYSF (dysferlin): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Miyoshi_muscular_dystrophy_1', 'Qualitative_or_quantitative_defects_of_dysferlin'] | ACTCCTGACCTCAAGTGACCCACCTGCCTTGGGCTCCCAAAGTGCTGGGATTAAGGCATGAGCCACCGTGCCCAGCCGACTATAGATTTTTGTCTTTTACCTTTTAGCACAAATGGCTGCACATCACACCACTCTGCGCCTTGCTTTTTTCACTTAATCATATAACTTGGAGATGGTTTCACGTCACTACCTAGAGGCATCCTCATTCTGTTTGACAGCTGCCTAGTACTCCATTGTACGGACGGACCATACTTCATTTAACCTGCTTTCCATTGGTGGACACATGGGTTGTTCCAAATCCTTGCTAGTTCAAGCCATGC... | ACTCCTGACCTCAAGTGACCCACCTGCCTTGGGCTCCCAAAGTGCTGGGATTAAGGCATGAGCCACCGTGCCCAGCCGACTATAGATTTTTGTCTTTTACCTTTTAGCACAAATGGCTGCACATCACACCACTCTGCGCCTTGCTTTTTTCACTTAATCATATAACTTGGAGATGGTTTCACGTCACTACCTAGAGGCATCCTCATTCTGTTTGACAGCTGCCTAGTACTCCATTGTACGGACGGACCATACTTCATTTAACCTGCTTTCCATTGGTGGACACATGGGTTGTTCCAAATCCTTGCTAGTTCAAGCCATGC... | pathogenic | 38,733 |
Is the genetic variant on chromosome 2, position 71535305, gene DYSF (dysferlin), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2B', 'Miyoshi_muscular_dystrophy_1', 'Qualitative_or_quantitative_defects_of_dysferlin'] | TGACCCACCTGCCTTGGGCTCCCAAAGTGCTGGGATTAAGGCATGAGCCACCGTGCCCAGCCGACTATAGATTTTTGTCTTTTACCTTTTAGCACAAATGGCTGCACATCACACCACTCTGCGCCTTGCTTTTTTCACTTAATCATATAACTTGGAGATGGTTTCACGTCACTACCTAGAGGCATCCTCATTCTGTTTGACAGCTGCCTAGTACTCCATTGTACGGACGGACCATACTTCATTTAACCTGCTTTCCATTGGTGGACACATGGGTTGTTCCAAATCCTTGCTAGTTCAAGCCATGCTGCAGTGAATAGCCT... | TGACCCACCTGCCTTGGGCTCCCAAAGTGCTGGGATTAAGGCATGAGCCACCGTGCCCAGCCGACTATAGATTTTTGTCTTTTACCTTTTAGCACAAATGGCTGCACATCACACCACTCTGCGCCTTGCTTTTTTCACTTAATCATATAACTTGGAGATGGTTTCACGTCACTACCTAGAGGCATCCTCATTCTGTTTGACAGCTGCCTAGTACTCCATTGTACGGACGGACCATACTTCATTTAACCTGCTTTCCATTGGTGGACACATGGGTTGTTCCAAATCCTTGCTAGTTCAAGCCATGCTGCAGTGAATAGCCT... | pathogenic | 38,734 |
Does the chromosome 2 mutation at position 71539197 within gene DYSF (dysferlin) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Qualitative_or_quantitative_defects_of_dysferlin'] | CCATTAACTGTCACTCATCTGGTGCTGAGAATATCACTGTAAAATATTGCAGGAAATTTTTACTTTCTAGTTTTGTTTTTTTTTTTTTTTTTTTTTTTGCGGGGGGCGTGGTGGGAGGATGGAGTTTCGCTCTTGTCACCCAGGCTGGAGTCCAATGGCGTGATCTTGGCTCATGCAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCAGGGATTACAGGCACACACCACCACCCCTGGCTAATTTTTGTATTTTTAGTAGAAACGGGGCTTCATCATGTTGGCCAGGCTGGTCTTGAA... | CCATTAACTGTCACTCATCTGGTGCTGAGAATATCACTGTAAAATATTGCAGGAAATTTTTACTTTCTAGTTTTGTTTTTTTTTTTTTTTTTTTTTTTGCGGGGGGCGTGGTGGGAGGATGGAGTTTCGCTCTTGTCACCCAGGCTGGAGTCCAATGGCGTGATCTTGGCTCATGCAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCAGGGATTACAGGCACACACCACCACCCCTGGCTAATTTTTGTATTTTTAGTAGAAACGGGGCTTCATCATGTTGGCCAGGCTGGTCTTGAA... | pathogenic | 38,740 |
Determine whether the variant at chromosome 2, position 71539222, in gene DYSF (dysferlin) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2B', 'Qualitative_or_quantitative_defects_of_dysferlin'] | TGAGAATATCACTGTAAAATATTGCAGGAAATTTTTACTTTCTAGTTTTGTTTTTTTTTTTTTTTTTTTTTTTGCGGGGGGCGTGGTGGGAGGATGGAGTTTCGCTCTTGTCACCCAGGCTGGAGTCCAATGGCGTGATCTTGGCTCATGCAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCAGGGATTACAGGCACACACCACCACCCCTGGCTAATTTTTGTATTTTTAGTAGAAACGGGGCTTCATCATGTTGGCCAGGCTGGTCTTGAACTCCTGATCTCAGGTGATCCATCTG... | TGAGAATATCACTGTAAAATATTGCAGGAAATTTTTACTTTCTAGTTTTGTTTTTTTTTTTTTTTTTTTTTTTGCGGGGGGCGTGGTGGGAGGATGGAGTTTCGCTCTTGTCACCCAGGCTGGAGTCCAATGGCGTGATCTTGGCTCATGCAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCAGGGATTACAGGCACACACCACCACCCCTGGCTAATTTTTGTATTTTTAGTAGAAACGGGGCTTCATCATGTTGGCCAGGCTGGTCTTGAACTCCTGATCTCAGGTGATCCATCTG... | pathogenic | 38,742 |
Clinical classification of chromosome 2, position 71539238, gene DYSF (dysferlin): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2B', 'Miyoshi_muscular_dystrophy_1', 'Qualitative_or_quantitative_defects_of_dysferlin'] | AAATATTGCAGGAAATTTTTACTTTCTAGTTTTGTTTTTTTTTTTTTTTTTTTTTTTGCGGGGGGCGTGGTGGGAGGATGGAGTTTCGCTCTTGTCACCCAGGCTGGAGTCCAATGGCGTGATCTTGGCTCATGCAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCAGGGATTACAGGCACACACCACCACCCCTGGCTAATTTTTGTATTTTTAGTAGAAACGGGGCTTCATCATGTTGGCCAGGCTGGTCTTGAACTCCTGATCTCAGGTGATCCATCTGCCTTGGCCTCCCAAAG... | AAATATTGCAGGAAATTTTTACTTTCTAGTTTTGTTTTTTTTTTTTTTTTTTTTTTTGCGGGGGGCGTGGTGGGAGGATGGAGTTTCGCTCTTGTCACCCAGGCTGGAGTCCAATGGCGTGATCTTGGCTCATGCAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCAGGGATTACAGGCACACACCACCACCCCTGGCTAATTTTTGTATTTTTAGTAGAAACGGGGCTTCATCATGTTGGCCAGGCTGGTCTTGAACTCCTGATCTCAGGTGATCCATCTGCCTTGGCCTCCCAAAG... | pathogenic | 38,743 |
A genetic alteration at chromosome 2, position 71549390, in gene DYSF (dysferlin)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2B', 'Distal_myopathy_with_anterior_tibial_onset', 'Miyoshi_muscular_dystrophy_1'] | ATGAATGAAAGAATGGGTGAATTAGGTTGGGTGCTGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGTGGATCACCTGAGTTCAGGAGTTCGAGACCAGCCTGGCTAACATGGTGAAACCCCATCTCCACTAAAAATACAAGAAATAGGTGGTGGTGGGCACCTGGAATCATAGCTACTTGGGAGGCTGAGGCAGAATTGCTGGAACCTGGGAGGCGGAGGTTGCAGTGAGCCGAGATTGGGCCACTGTGCTCCAGTGTGGGCAACAAGAGCAAGACACTGTCTCAATAAATAAATAAATAAAAAGA... | ATGAATGAAAGAATGGGTGAATTAGGTTGGGTGCTGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGTGGATCACCTGAGTTCAGGAGTTCGAGACCAGCCTGGCTAACATGGTGAAACCCCATCTCCACTAAAAATACAAGAAATAGGTGGTGGTGGGCACCTGGAATCATAGCTACTTGGGAGGCTGAGGCAGAATTGCTGGAACCTGGGAGGCGGAGGTTGCAGTGAGCCGAGATTGGGCCACTGTGCTCCAGTGTGGGCAACAAGAGCAAGACACTGTCTCAATAAATAAATAAATAAAAAGA... | pathogenic | 38,754 |
Determine if the mutation at chromosome 2, position 71551059 in gene DYSF (dysferlin) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2B', 'Distal_myopathy_with_anterior_tibial_onset', 'Miyoshi_muscular_dystrophy_1', 'Qualitative_or_quantitative_defects_of_dysferlin'] | ACATTTTCTTTTCTGAATTATTCCTTGAGTGTATTGAATCAAGTTTCGGGTCTGGTTTTCAACTGGCAAACGGAACACACAGAGTGATGGGCAGGCCAGGTGGGACCCCCAGGGCTCATGGGGTGTTGGGGGCTGCGTCTGGAGGGGCCGTGATGATTTAGTTTATGATAAATTCACAGCTGGGCAGAGGGTGGGGCCTCGGGCCACATCTGTTTCACACCCGGGAGCTGTCTTTCCATCTGTCTGCCTGCCAGCTCTCCATCCACAGCCTGTTCATGTAACCCGTCCTTCTCCCAGCCATGCCCACCCTAACCCCTTTT... | ACATTTTCTTTTCTGAATTATTCCTTGAGTGTATTGAATCAAGTTTCGGGTCTGGTTTTCAACTGGCAAACGGAACACACAGAGTGATGGGCAGGCCAGGTGGGACCCCCAGGGCTCATGGGGTGTTGGGGGCTGCGTCTGGAGGGGCCGTGATGATTTAGTTTATGATAAATTCACAGCTGGGCAGAGGGTGGGGCCTCGGGCCACATCTGTTTCACACCCGGGAGCTGTCTTTCCATCTGTCTGCCTGCCAGCTCTCCATCCACAGCCTGTTCATGTAACCCGTCCTTCTCCCAGCCATGCCCACCCTAACCCCTTTT... | pathogenic | 38,762 |
Variant chromosome 2, position 71551605, gene DYSF (dysferlin): benign or pathogenic? Disease(s)? | pathogenic | TCTGTGGAGCATGTAAATCATCTGGAATGCTTTAAGGGGCAATTTCCTCCCACTTCCCCCAACCCTTCCTAAATGGGATAGGCTTGGGCTGATGCTCGAGTTAGACCACTCTGTCTGGTAGTGAGGGGTAGGGGCAGGCATGGGGGTCTGGAGTGGGGCAGGGGGAGTGTGAGGTGTTTCAGGGGCCAGGAGGAGGCCAAGAGGAGTTAAAAACTCTTGGAGTTGAAATCCCCAAGGTAAATCATAATTGAGATGATTAACGCAAATAATTAGTAATGCTCCTGTTAGCCCACCTACCTGGGCCTCCCACCTCTCCTGAA... | TCTGTGGAGCATGTAAATCATCTGGAATGCTTTAAGGGGCAATTTCCTCCCACTTCCCCCAACCCTTCCTAAATGGGATAGGCTTGGGCTGATGCTCGAGTTAGACCACTCTGTCTGGTAGTGAGGGGTAGGGGCAGGCATGGGGGTCTGGAGTGGGGCAGGGGGAGTGTGAGGTGTTTCAGGGGCCAGGAGGAGGCCAAGAGGAGTTAAAAACTCTTGGAGTTGAAATCCCCAAGGTAAATCATAATTGAGATGATTAACGCAAATAATTAGTAATGCTCCTGTTAGCCCACCTACCTGGGCCTCCCACCTCTCCTGAA... | pathogenic | 38,768 |
Is the genetic change at chromosome 2, position 71551605, within gene DYSF (dysferlin) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Miyoshi_muscular_dystrophy_1', 'Qualitative_or_quantitative_defects_of_dysferlin'] | TCTGTGGAGCATGTAAATCATCTGGAATGCTTTAAGGGGCAATTTCCTCCCACTTCCCCCAACCCTTCCTAAATGGGATAGGCTTGGGCTGATGCTCGAGTTAGACCACTCTGTCTGGTAGTGAGGGGTAGGGGCAGGCATGGGGGTCTGGAGTGGGGCAGGGGGAGTGTGAGGTGTTTCAGGGGCCAGGAGGAGGCCAAGAGGAGTTAAAAACTCTTGGAGTTGAAATCCCCAAGGTAAATCATAATTGAGATGATTAACGCAAATAATTAGTAATGCTCCTGTTAGCCCACCTACCTGGGCCTCCCACCTCTCCTGAA... | TCTGTGGAGCATGTAAATCATCTGGAATGCTTTAAGGGGCAATTTCCTCCCACTTCCCCCAACCCTTCCTAAATGGGATAGGCTTGGGCTGATGCTCGAGTTAGACCACTCTGTCTGGTAGTGAGGGGTAGGGGCAGGCATGGGGGTCTGGAGTGGGGCAGGGGGAGTGTGAGGTGTTTCAGGGGCCAGGAGGAGGCCAAGAGGAGTTAAAAACTCTTGGAGTTGAAATCCCCAAGGTAAATCATAATTGAGATGATTAACGCAAATAATTAGTAATGCTCCTGTTAGCCCACCTACCTGGGCCTCCCACCTCTCCTGAA... | pathogenic | 38,769 |
Chromosome 2, position 71551634, gene DYSF (dysferlin): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy', 'DYSF-related_disorder', 'Qualitative_or_quantitative_defects_of_dysferlin', 'likely other unspecified diseases'] | CTTTAAGGGGCAATTTCCTCCCACTTCCCCCAACCCTTCCTAAATGGGATAGGCTTGGGCTGATGCTCGAGTTAGACCACTCTGTCTGGTAGTGAGGGGTAGGGGCAGGCATGGGGGTCTGGAGTGGGGCAGGGGGAGTGTGAGGTGTTTCAGGGGCCAGGAGGAGGCCAAGAGGAGTTAAAAACTCTTGGAGTTGAAATCCCCAAGGTAAATCATAATTGAGATGATTAACGCAAATAATTAGTAATGCTCCTGTTAGCCCACCTACCTGGGCCTCCCACCTCTCCTGAAGGCCAGTGCCCTGTCTGTGCTGGGGTCTA... | CTTTAAGGGGCAATTTCCTCCCACTTCCCCCAACCCTTCCTAAATGGGATAGGCTTGGGCTGATGCTCGAGTTAGACCACTCTGTCTGGTAGTGAGGGGTAGGGGCAGGCATGGGGGTCTGGAGTGGGGCAGGGGGAGTGTGAGGTGTTTCAGGGGCCAGGAGGAGGCCAAGAGGAGTTAAAAACTCTTGGAGTTGAAATCCCCAAGGTAAATCATAATTGAGATGATTAACGCAAATAATTAGTAATGCTCCTGTTAGCCCACCTACCTGGGCCTCCCACCTCTCCTGAAGGCCAGTGCCCTGTCTGTGCTGGGGTCTA... | pathogenic | 38,771 |
Is the genetic change at chromosome 2, position 71553804, within gene DYSF (dysferlin) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['DYSF-related_disorder', 'Qualitative_or_quantitative_defects_of_dysferlin'] | GGGGCAGGGAAGGGATGGCCAGGCTGGGACTGGCCTTGAGGTGTCATGGCCGAGGGAGGAGGAAGCTCTGCCCACACGCATCGTGCCTTTACCTCCCCGGGCCTCAAGTCTCAGCTGTAAAGTGGGAATAAATCAACACTTGCCCTGCTTCCCTGGAGGGATGATCAGAGGCTCAGAGAAGATAAATGAAAATATTCAAAAAGTCTAGAGCTTGATGCAAAATGAGATGCGATTTTATATTAATAACATAAGGATAGCTAACTGTTAAGTCAAATAAGCACTGAACATGTATCAGGCACTGTGCTGCTGACACCTCTGCC... | GGGGCAGGGAAGGGATGGCCAGGCTGGGACTGGCCTTGAGGTGTCATGGCCGAGGGAGGAGGAAGCTCTGCCCACACGCATCGTGCCTTTACCTCCCCGGGCCTCAAGTCTCAGCTGTAAAGTGGGAATAAATCAACACTTGCCCTGCTTCCCTGGAGGGATGATCAGAGGCTCAGAGAAGATAAATGAAAATATTCAAAAAGTCTAGAGCTTGATGCAAAATGAGATGCGATTTTATATTAATAACATAAGGATAGCTAACTGTTAAGTCAAATAAGCACTGAACATGTATCAGGCACTGTGCTGCTGACACCTCTGCC... | pathogenic | 38,790 |
Does the genetic variant at chromosome 2, position 71553822, impacting gene DYSF (dysferlin), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy', 'Qualitative_or_quantitative_defects_of_dysferlin'] | CCAGGCTGGGACTGGCCTTGAGGTGTCATGGCCGAGGGAGGAGGAAGCTCTGCCCACACGCATCGTGCCTTTACCTCCCCGGGCCTCAAGTCTCAGCTGTAAAGTGGGAATAAATCAACACTTGCCCTGCTTCCCTGGAGGGATGATCAGAGGCTCAGAGAAGATAAATGAAAATATTCAAAAAGTCTAGAGCTTGATGCAAAATGAGATGCGATTTTATATTAATAACATAAGGATAGCTAACTGTTAAGTCAAATAAGCACTGAACATGTATCAGGCACTGTGCTGCTGACACCTCTGCCATTACTGACTCCTCCCAG... | CCAGGCTGGGACTGGCCTTGAGGTGTCATGGCCGAGGGAGGAGGAAGCTCTGCCCACACGCATCGTGCCTTTACCTCCCCGGGCCTCAAGTCTCAGCTGTAAAGTGGGAATAAATCAACACTTGCCCTGCTTCCCTGGAGGGATGATCAGAGGCTCAGAGAAGATAAATGAAAATATTCAAAAAGTCTAGAGCTTGATGCAAAATGAGATGCGATTTTATATTAATAACATAAGGATAGCTAACTGTTAAGTCAAATAAGCACTGAACATGTATCAGGCACTGTGCTGCTGACACCTCTGCCATTACTGACTCCTCCCAG... | pathogenic | 38,792 |
Does the variant on chromosome 2 at location 71555984 affecting gene DYSF (dysferlin) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy', 'Qualitative_or_quantitative_defects_of_dysferlin'] | GTGAAAACTTGCCCAAAGCTGCACATGCCTATGCATGCACCTGCTACCCCCGCTGCATGGGGTGTCTCAGACCACCACCCACTGGTGCACACACTGACACACGGCTGTGCCTACTGACCTTTGTGGTTGGTGTCCTCTGTGCCTTGGCAATACCAGGCTTGTGGTCCTGTCCTGCATGCTTGGAAGAGAAAAGAGGGGATGTGAGCAATCTGAGGCAGCCCCAGTGTGCAGTGGGACACAGAGCAAGGGAGCAGAAGGAAAACCTATGCCACGCAGCAGGGCACGGCCTGGCTCTCGCTCGCTTACTCACTCATTACAGG... | GTGAAAACTTGCCCAAAGCTGCACATGCCTATGCATGCACCTGCTACCCCCGCTGCATGGGGTGTCTCAGACCACCACCCACTGGTGCACACACTGACACACGGCTGTGCCTACTGACCTTTGTGGTTGGTGTCCTCTGTGCCTTGGCAATACCAGGCTTGTGGTCCTGTCCTGCATGCTTGGAAGAGAAAAGAGGGGATGTGAGCAATCTGAGGCAGCCCCAGTGTGCAGTGGGACACAGAGCAAGGGAGCAGAAGGAAAACCTATGCCACGCAGCAGGGCACGGCCTGGCTCTCGCTCGCTTACTCACTCATTACAGG... | pathogenic | 38,796 |
Is the genetic mutation found on chromosome 2 at position 71564072, within the gene DYSF (dysferlin), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Qualitative_or_quantitative_defects_of_dysferlin'] | GTCTGGATTATTACCCACCCCGGTTCCATTGCTGGGTGACCTTGGGCAGGTGACTTAACCTCTCTGAACCTCAATGGACCAATTTGCAGAAGGAAGAGAGAGGGTACGATGGAATACTGGGTGTTATGGGGCCCAGCACAGAGCCTGGCACACAATAGGTAACTAATAAATGCCCTCTGTTTGCCAAAGTATGTCAGAGACAGAGCTGGGACCAGAATCCAAGGTACCTGGTTCTAGGTTCAGTGCCAGGGCCAGCTTCCCCAGGTTCCCGACTCCTACTTCCTGCCAGCCAGTGCCTGTCTGCACCTGGCCAACAACCT... | GTCTGGATTATTACCCACCCCGGTTCCATTGCTGGGTGACCTTGGGCAGGTGACTTAACCTCTCTGAACCTCAATGGACCAATTTGCAGAAGGAAGAGAGAGGGTACGATGGAATACTGGGTGTTATGGGGCCCAGCACAGAGCCTGGCACACAATAGGTAACTAATAAATGCCCTCTGTTTGCCAAAGTATGTCAGAGACAGAGCTGGGACCAGAATCCAAGGTACCTGGTTCTAGGTTCAGTGCCAGGGCCAGCTTCCCCAGGTTCCCGACTCCTACTTCCTGCCAGCCAGTGCCTGTCTGCACCTGGCCAACAACCT... | pathogenic | 38,810 |
Does the chromosome 2 mutation at position 71564194 within gene DYSF (dysferlin) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2B', 'Distal_myopathy_with_anterior_tibial_onset', 'Miyoshi_muscular_dystrophy_1', 'Qualitative_or_quantitative_defects_of_dysferlin'] | GTTATGGGGCCCAGCACAGAGCCTGGCACACAATAGGTAACTAATAAATGCCCTCTGTTTGCCAAAGTATGTCAGAGACAGAGCTGGGACCAGAATCCAAGGTACCTGGTTCTAGGTTCAGTGCCAGGGCCAGCTTCCCCAGGTTCCCGACTCCTACTTCCTGCCAGCCAGTGCCTGTCTGCACCTGGCCAACAACCTGCCCTGCCTGGACCCTCTGTTTCCTGTTGTCCTGGATGCCTCTGAACCCCAGGCCCAAGGAGGCTTCATTTTCAGTAACTCTGAGTTTTGCTGAATCTGATCAGAGAGAACCGGCTCTGGTT... | GTTATGGGGCCCAGCACAGAGCCTGGCACACAATAGGTAACTAATAAATGCCCTCTGTTTGCCAAAGTATGTCAGAGACAGAGCTGGGACCAGAATCCAAGGTACCTGGTTCTAGGTTCAGTGCCAGGGCCAGCTTCCCCAGGTTCCCGACTCCTACTTCCTGCCAGCCAGTGCCTGTCTGCACCTGGCCAACAACCTGCCCTGCCTGGACCCTCTGTTTCCTGTTGTCCTGGATGCCTCTGAACCCCAGGCCCAAGGAGGCTTCATTTTCAGTAACTCTGAGTTTTGCTGAATCTGATCAGAGAGAACCGGCTCTGGTT... | pathogenic | 38,814 |
Is the variant located on chromosome 2 at position 71568010, gene DYSF (dysferlin), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Miyoshi_muscular_dystrophy_1', 'Qualitative_or_quantitative_defects_of_dysferlin'] | TAGATGTCTGCACACAGTTGTGTGAGTGAGTGTGTCTGTGTGTGTGTGTGTTGGGCAGCAGGCTGCCCCCATCCACCTGCTCACATGCCACCTGGGGCATGTTTCCCATTAGATTCTAACCTCCTGTGCTTGTCAGAGCCTAACCTCTGAGAGTCTACCTCCTAAGCCAGTTCCTGGCCTGGTAGGGCAGAAAGGAAAGGAAGTCAAGGAGTGGCCATATCTGAGTGGGGCTGACCGGGGAAGGCGGTCTGCGAGAGTGGCGGGGGCGGGGCGGGGGGTGCTGCTGAATTGTGCCTGGTGGACTTGCTGGGAGGGGATGA... | TAGATGTCTGCACACAGTTGTGTGAGTGAGTGTGTCTGTGTGTGTGTGTGTTGGGCAGCAGGCTGCCCCCATCCACCTGCTCACATGCCACCTGGGGCATGTTTCCCATTAGATTCTAACCTCCTGTGCTTGTCAGAGCCTAACCTCTGAGAGTCTACCTCCTAAGCCAGTTCCTGGCCTGGTAGGGCAGAAAGGAAAGGAAGTCAAGGAGTGGCCATATCTGAGTGGGGCTGACCGGGGAAGGCGGTCTGCGAGAGTGGCGGGGGCGGGGCGGGGGGTGCTGCTGAATTGTGCCTGGTGGACTTGCTGGGAGGGGATGA... | pathogenic | 38,821 |
Considering the genetic mutation at chromosome 2, position 71568230, impacting DYSF (dysferlin): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Abnormality_of_the_musculature', 'Autosomal_recessive_limb-girdle_muscular_dystrophy', 'Qualitative_or_quantitative_defects_of_dysferlin'] | CTGAGTGGGGCTGACCGGGGAAGGCGGTCTGCGAGAGTGGCGGGGGCGGGGCGGGGGGTGCTGCTGAATTGTGCCTGGTGGACTTGCTGGGAGGGGATGAGCTCCAGGTTCTGACCTCTTGGCCATGTAGCCTCAGGGAAATGCAAACTGAAAATTTTCCCTGGTTTCAAGCAAAAAAAAAAAAAAAAAAAAAAAAGATATAGAATTGTTTCTCGAAGTCTTCCCCACTGAGTTTATGAGCCCCGCCAGTAGCTCCTGAGCAAGCTCTACAAAAATGTTGGCAGCAAGCAGAGACCAAGAAAACATTGGTGTTTCTTAAC... | CTGAGTGGGGCTGACCGGGGAAGGCGGTCTGCGAGAGTGGCGGGGGCGGGGCGGGGGGTGCTGCTGAATTGTGCCTGGTGGACTTGCTGGGAGGGGATGAGCTCCAGGTTCTGACCTCTTGGCCATGTAGCCTCAGGGAAATGCAAACTGAAAATTTTCCCTGGTTTCAAGCAAAAAAAAAAAAAAAAAAAAAAAAGATATAGAATTGTTTCTCGAAGTCTTCCCCACTGAGTTTATGAGCCCCGCCAGTAGCTCCTGAGCAAGCTCTACAAAAATGTTGGCAGCAAGCAGAGACCAAGAAAACATTGGTGTTTCTTAAC... | pathogenic | 38,829 |
A mutation at chromosome position 71568304 on chromosome 2 in gene DYSF (dysferlin): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy', 'Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2B', 'Miyoshi_muscular_dystrophy_1', 'Qualitative_or_quantitative_defects_of_dysferlin'] | CTGGTGGACTTGCTGGGAGGGGATGAGCTCCAGGTTCTGACCTCTTGGCCATGTAGCCTCAGGGAAATGCAAACTGAAAATTTTCCCTGGTTTCAAGCAAAAAAAAAAAAAAAAAAAAAAAAGATATAGAATTGTTTCTCGAAGTCTTCCCCACTGAGTTTATGAGCCCCGCCAGTAGCTCCTGAGCAAGCTCTACAAAAATGTTGGCAGCAAGCAGAGACCAAGAAAACATTGGTGTTTCTTAACTTAAACCAAAGTTGGAAAAAATGAGCACCAGCAGAGAGAGAGAGGAGCCCCAAACTAGACATTTCTTTATTTGC... | CTGGTGGACTTGCTGGGAGGGGATGAGCTCCAGGTTCTGACCTCTTGGCCATGTAGCCTCAGGGAAATGCAAACTGAAAATTTTCCCTGGTTTCAAGCAAAAAAAAAAAAAAAAAAAAAAAAGATATAGAATTGTTTCTCGAAGTCTTCCCCACTGAGTTTATGAGCCCCGCCAGTAGCTCCTGAGCAAGCTCTACAAAAATGTTGGCAGCAAGCAGAGACCAAGAAAACATTGGTGTTTCTTAACTTAAACCAAAGTTGGAAAAAATGAGCACCAGCAGAGAGAGAGAGGAGCCCCAAACTAGACATTTCTTTATTTGC... | pathogenic | 38,832 |
Evaluate this variant at chromosome 2, position 71569841, gene DYSF (dysferlin): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2B', 'Distal_myopathy_with_anterior_tibial_onset', 'Miyoshi_muscular_dystrophy_1', 'Qualitative_or_quantitative_defects_of_dysferlin'] | TTCTATGCAATTCTGGTAAGCGCTCCCACAGGGGACACTCCCAGTGAGGGTGTCAGCCTGCTCTACCCAGGCTTGGAGGACTCCTCCTCCCCAGCCTCTCACTGGGACATCCGGATCCTGAAGGGGACTGTGGGTTTCTGTCCTTCTCTGGTACCCAGTATCCGATGGAGAAGGTGCCTGGCGCCCGGATGCCAGTGCAGATACGGGTCAAGCTGTGGTTTGGGCTCTCAGTGGATGAGAAGGAGTTCAACCAGTTTGCTGAGGGGAAGCTGTCTGTCTTTGCTGAAACCGTGAGTACCTGCCAGCCCCCACCTCTGCCT... | TTCTATGCAATTCTGGTAAGCGCTCCCACAGGGGACACTCCCAGTGAGGGTGTCAGCCTGCTCTACCCAGGCTTGGAGGACTCCTCCTCCCCAGCCTCTCACTGGGACATCCGGATCCTGAAGGGGACTGTGGGTTTCTGTCCTTCTCTGGTACCCAGTATCCGATGGAGAAGGTGCCTGGCGCCCGGATGCCAGTGCAGATACGGGTCAAGCTGTGGTTTGGGCTCTCAGTGGATGAGAAGGAGTTCAACCAGTTTGCTGAGGGGAAGCTGTCTGTCTTTGCTGAAACCGTGAGTACCTGCCAGCCCCCACCTCTGCCT... | pathogenic | 38,842 |
Regarding the variant at chromosome 2 and position 71569845, affecting gene DYSF (dysferlin): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Miyoshi_muscular_dystrophy_1', 'Qualitative_or_quantitative_defects_of_dysferlin'] | ATGCAATTCTGGTAAGCGCTCCCACAGGGGACACTCCCAGTGAGGGTGTCAGCCTGCTCTACCCAGGCTTGGAGGACTCCTCCTCCCCAGCCTCTCACTGGGACATCCGGATCCTGAAGGGGACTGTGGGTTTCTGTCCTTCTCTGGTACCCAGTATCCGATGGAGAAGGTGCCTGGCGCCCGGATGCCAGTGCAGATACGGGTCAAGCTGTGGTTTGGGCTCTCAGTGGATGAGAAGGAGTTCAACCAGTTTGCTGAGGGGAAGCTGTCTGTCTTTGCTGAAACCGTGAGTACCTGCCAGCCCCCACCTCTGCCTCCCA... | ATGCAATTCTGGTAAGCGCTCCCACAGGGGACACTCCCAGTGAGGGTGTCAGCCTGCTCTACCCAGGCTTGGAGGACTCCTCCTCCCCAGCCTCTCACTGGGACATCCGGATCCTGAAGGGGACTGTGGGTTTCTGTCCTTCTCTGGTACCCAGTATCCGATGGAGAAGGTGCCTGGCGCCCGGATGCCAGTGCAGATACGGGTCAAGCTGTGGTTTGGGCTCTCAGTGGATGAGAAGGAGTTCAACCAGTTTGCTGAGGGGAAGCTGTCTGTCTTTGCTGAAACCGTGAGTACCTGCCAGCCCCCACCTCTGCCTCCCA... | pathogenic | 38,843 |
Evaluate this variant at chromosome 2, position 71569866, gene DYSF (dysferlin): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Miyoshi_muscular_dystrophy_1', 'Qualitative_or_quantitative_defects_of_dysferlin'] | CCACAGGGGACACTCCCAGTGAGGGTGTCAGCCTGCTCTACCCAGGCTTGGAGGACTCCTCCTCCCCAGCCTCTCACTGGGACATCCGGATCCTGAAGGGGACTGTGGGTTTCTGTCCTTCTCTGGTACCCAGTATCCGATGGAGAAGGTGCCTGGCGCCCGGATGCCAGTGCAGATACGGGTCAAGCTGTGGTTTGGGCTCTCAGTGGATGAGAAGGAGTTCAACCAGTTTGCTGAGGGGAAGCTGTCTGTCTTTGCTGAAACCGTGAGTACCTGCCAGCCCCCACCTCTGCCTCCCACTACCTGGAGCTGCCTTGGCC... | CCACAGGGGACACTCCCAGTGAGGGTGTCAGCCTGCTCTACCCAGGCTTGGAGGACTCCTCCTCCCCAGCCTCTCACTGGGACATCCGGATCCTGAAGGGGACTGTGGGTTTCTGTCCTTCTCTGGTACCCAGTATCCGATGGAGAAGGTGCCTGGCGCCCGGATGCCAGTGCAGATACGGGTCAAGCTGTGGTTTGGGCTCTCAGTGGATGAGAAGGAGTTCAACCAGTTTGCTGAGGGGAAGCTGTCTGTCTTTGCTGAAACCGTGAGTACCTGCCAGCCCCCACCTCTGCCTCCCACTACCTGGAGCTGCCTTGGCC... | pathogenic | 38,844 |
Regarding the variant at chromosome 2 and position 71569875, affecting gene DYSF (dysferlin): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2B', 'Distal_myopathy_with_anterior_tibial_onset', 'Miyoshi_muscular_dystrophy_1', 'Qualitative_or_quantitative_defects_of_dysferlin'] | ACACTCCCAGTGAGGGTGTCAGCCTGCTCTACCCAGGCTTGGAGGACTCCTCCTCCCCAGCCTCTCACTGGGACATCCGGATCCTGAAGGGGACTGTGGGTTTCTGTCCTTCTCTGGTACCCAGTATCCGATGGAGAAGGTGCCTGGCGCCCGGATGCCAGTGCAGATACGGGTCAAGCTGTGGTTTGGGCTCTCAGTGGATGAGAAGGAGTTCAACCAGTTTGCTGAGGGGAAGCTGTCTGTCTTTGCTGAAACCGTGAGTACCTGCCAGCCCCCACCTCTGCCTCCCACTACCTGGAGCTGCCTTGGCCCCCTGCTCA... | ACACTCCCAGTGAGGGTGTCAGCCTGCTCTACCCAGGCTTGGAGGACTCCTCCTCCCCAGCCTCTCACTGGGACATCCGGATCCTGAAGGGGACTGTGGGTTTCTGTCCTTCTCTGGTACCCAGTATCCGATGGAGAAGGTGCCTGGCGCCCGGATGCCAGTGCAGATACGGGTCAAGCTGTGGTTTGGGCTCTCAGTGGATGAGAAGGAGTTCAACCAGTTTGCTGAGGGGAAGCTGTCTGTCTTTGCTGAAACCGTGAGTACCTGCCAGCCCCCACCTCTGCCTCCCACTACCTGGAGCTGCCTTGGCCCCCTGCTCA... | pathogenic | 38,845 |
Considering the variant on chromosome 2, location 71569909, involving gene DYSF (dysferlin), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2B', 'Distal_myopathy_with_anterior_tibial_onset', 'Miyoshi_muscular_dystrophy_1', 'Qualitative_or_quantitative_defects_of_dysferlin'] | AGGCTTGGAGGACTCCTCCTCCCCAGCCTCTCACTGGGACATCCGGATCCTGAAGGGGACTGTGGGTTTCTGTCCTTCTCTGGTACCCAGTATCCGATGGAGAAGGTGCCTGGCGCCCGGATGCCAGTGCAGATACGGGTCAAGCTGTGGTTTGGGCTCTCAGTGGATGAGAAGGAGTTCAACCAGTTTGCTGAGGGGAAGCTGTCTGTCTTTGCTGAAACCGTGAGTACCTGCCAGCCCCCACCTCTGCCTCCCACTACCTGGAGCTGCCTTGGCCCCCTGCTCACGCCTCATTCTTCCTGGCCCTCCAGTATGAGAAC... | AGGCTTGGAGGACTCCTCCTCCCCAGCCTCTCACTGGGACATCCGGATCCTGAAGGGGACTGTGGGTTTCTGTCCTTCTCTGGTACCCAGTATCCGATGGAGAAGGTGCCTGGCGCCCGGATGCCAGTGCAGATACGGGTCAAGCTGTGGTTTGGGCTCTCAGTGGATGAGAAGGAGTTCAACCAGTTTGCTGAGGGGAAGCTGTCTGTCTTTGCTGAAACCGTGAGTACCTGCCAGCCCCCACCTCTGCCTCCCACTACCTGGAGCTGCCTTGGCCCCCTGCTCACGCCTCATTCTTCCTGGCCCTCCAGTATGAGAAC... | pathogenic | 38,849 |
Is the genetic variant on chromosome 2, position 71570616, gene DYSF (dysferlin), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2B', 'Miyoshi_muscular_dystrophy_1', 'Qualitative_or_quantitative_defects_of_dysferlin'] | TTTTTTTTTTTTGAGACAGAGTCTCACTCTGTTTGGAGGCTGGAGTGCAGTAGCATGATCGCAGCTCATTGCAGCCTCAACCTCCTGGCCTCAGGTGATCCTCCTGCTCCTGCCTTCTGAGTAGCTGGGACCACAGGCGTGCGCCATCATGCCTGGCTAATTTTTAAATTTTTTGTAGAGACAGGGTCTCACTGTGTTGCCCAGGCTGGTCTTGAACTCCTGGGCTCAAGTGATTCTCCCTCCTTGAACTCCCAAAGTGCTGGGGTTACAGGCTTGAGTCACCACGCCTGGCCAGGCCTTTATTCTCTCTCTTTTTTTTT... | TTTTTTTTTTTTGAGACAGAGTCTCACTCTGTTTGGAGGCTGGAGTGCAGTAGCATGATCGCAGCTCATTGCAGCCTCAACCTCCTGGCCTCAGGTGATCCTCCTGCTCCTGCCTTCTGAGTAGCTGGGACCACAGGCGTGCGCCATCATGCCTGGCTAATTTTTAAATTTTTTGTAGAGACAGGGTCTCACTGTGTTGCCCAGGCTGGTCTTGAACTCCTGGGCTCAAGTGATTCTCCCTCCTTGAACTCCCAAAGTGCTGGGGTTACAGGCTTGAGTCACCACGCCTGGCCAGGCCTTTATTCTCTCTCTTTTTTTTT... | pathogenic | 38,860 |
The mutation in gene DYSF (dysferlin) at chromosome 2, position 71570620—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Miyoshi_muscular_dystrophy_1', 'Qualitative_or_quantitative_defects_of_dysferlin'] | TTTTTTTTGAGACAGAGTCTCACTCTGTTTGGAGGCTGGAGTGCAGTAGCATGATCGCAGCTCATTGCAGCCTCAACCTCCTGGCCTCAGGTGATCCTCCTGCTCCTGCCTTCTGAGTAGCTGGGACCACAGGCGTGCGCCATCATGCCTGGCTAATTTTTAAATTTTTTGTAGAGACAGGGTCTCACTGTGTTGCCCAGGCTGGTCTTGAACTCCTGGGCTCAAGTGATTCTCCCTCCTTGAACTCCCAAAGTGCTGGGGTTACAGGCTTGAGTCACCACGCCTGGCCAGGCCTTTATTCTCTCTCTTTTTTTTTTTTG... | TTTTTTTTGAGACAGAGTCTCACTCTGTTTGGAGGCTGGAGTGCAGTAGCATGATCGCAGCTCATTGCAGCCTCAACCTCCTGGCCTCAGGTGATCCTCCTGCTCCTGCCTTCTGAGTAGCTGGGACCACAGGCGTGCGCCATCATGCCTGGCTAATTTTTAAATTTTTTGTAGAGACAGGGTCTCACTGTGTTGCCCAGGCTGGTCTTGAACTCCTGGGCTCAAGTGATTCTCCCTCCTTGAACTCCCAAAGTGCTGGGGTTACAGGCTTGAGTCACCACGCCTGGCCAGGCCTTTATTCTCTCTCTTTTTTTTTTTTG... | pathogenic | 38,861 |
Clinical impact (benign or pathogenic) of the variant at chromosome 2, location 71570713, gene DYSF (dysferlin): what disease(s) if pathogenic? | pathogenic; ['Qualitative_or_quantitative_defects_of_dysferlin'] | ATCCTCCTGCTCCTGCCTTCTGAGTAGCTGGGACCACAGGCGTGCGCCATCATGCCTGGCTAATTTTTAAATTTTTTGTAGAGACAGGGTCTCACTGTGTTGCCCAGGCTGGTCTTGAACTCCTGGGCTCAAGTGATTCTCCCTCCTTGAACTCCCAAAGTGCTGGGGTTACAGGCTTGAGTCACCACGCCTGGCCAGGCCTTTATTCTCTCTCTTTTTTTTTTTTGAGACGGAGTCTCGCTCGGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCACGCCATTCTCCG... | ATCCTCCTGCTCCTGCCTTCTGAGTAGCTGGGACCACAGGCGTGCGCCATCATGCCTGGCTAATTTTTAAATTTTTTGTAGAGACAGGGTCTCACTGTGTTGCCCAGGCTGGTCTTGAACTCCTGGGCTCAAGTGATTCTCCCTCCTTGAACTCCCAAAGTGCTGGGGTTACAGGCTTGAGTCACCACGCCTGGCCAGGCCTTTATTCTCTCTCTTTTTTTTTTTTGAGACGGAGTCTCGCTCGGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCACGCCATTCTCCG... | pathogenic | 38,871 |
Variant on chromosome 2, at position 71570745, affecting DYSF (dysferlin): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | benign | ACCACAGGCGTGCGCCATCATGCCTGGCTAATTTTTAAATTTTTTGTAGAGACAGGGTCTCACTGTGTTGCCCAGGCTGGTCTTGAACTCCTGGGCTCAAGTGATTCTCCCTCCTTGAACTCCCAAAGTGCTGGGGTTACAGGCTTGAGTCACCACGCCTGGCCAGGCCTTTATTCTCTCTCTTTTTTTTTTTTGAGACGGAGTCTCGCTCGGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCACGCCATTCTCCGGCCTCAGCCTCCTGAGTAGCTGGGACTACAGC... | ACCACAGGCGTGCGCCATCATGCCTGGCTAATTTTTAAATTTTTTGTAGAGACAGGGTCTCACTGTGTTGCCCAGGCTGGTCTTGAACTCCTGGGCTCAAGTGATTCTCCCTCCTTGAACTCCCAAAGTGCTGGGGTTACAGGCTTGAGTCACCACGCCTGGCCAGGCCTTTATTCTCTCTCTTTTTTTTTTTTGAGACGGAGTCTCGCTCGGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCACGCCATTCTCCGGCCTCAGCCTCCTGAGTAGCTGGGACTACAGC... | benign | 38,872 |
Does the variant impacting DYSF (dysferlin) on chromosome 2, position 71574204, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | benign | ACCCAGCATGGATCACACCCAGCACACCCAGCACAGATTACATCCAGCACACCCAGCACAGATCACACCCAGCACATGCACAGATCACACCTAGCACACCCACAGATCACAACCAGCACAGATCACACCTAGCACACCCACAGATCACACCCAGCACACAGAAATCACACCCAGCACACCCACAGATCACACCCAGCACAGATCACACCCAGCACACCCACAGATGCTTATAGACAGACACACTCAGATGCCCATGATTACAGAAGGTCACATGCAAAGTTCACACACCAACCTGGAAGATGGAAAGACACCCATGGACT... | ACCCAGCATGGATCACACCCAGCACACCCAGCACAGATTACATCCAGCACACCCAGCACAGATCACACCCAGCACATGCACAGATCACACCTAGCACACCCACAGATCACAACCAGCACAGATCACACCTAGCACACCCACAGATCACACCCAGCACACAGAAATCACACCCAGCACACCCACAGATCACACCCAGCACAGATCACACCCAGCACACCCACAGATGCTTATAGACAGACACACTCAGATGCCCATGATTACAGAAGGTCACATGCAAAGTTCACACACCAACCTGGAAGATGGAAAGACACCCATGGACT... | benign | 38,877 |
A genetic variant on chromosome 2, position 71574217, affects the gene DYSF (dysferlin). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Miyoshi_muscular_dystrophy_1', 'Qualitative_or_quantitative_defects_of_dysferlin'] | CACACCCAGCACACCCAGCACAGATTACATCCAGCACACCCAGCACAGATCACACCCAGCACATGCACAGATCACACCTAGCACACCCACAGATCACAACCAGCACAGATCACACCTAGCACACCCACAGATCACACCCAGCACACAGAAATCACACCCAGCACACCCACAGATCACACCCAGCACAGATCACACCCAGCACACCCACAGATGCTTATAGACAGACACACTCAGATGCCCATGATTACAGAAGGTCACATGCAAAGTTCACACACCAACCTGGAAGATGGAAAGACACCCATGGACTTTGTCTTAGGCTG... | CACACCCAGCACACCCAGCACAGATTACATCCAGCACACCCAGCACAGATCACACCCAGCACATGCACAGATCACACCTAGCACACCCACAGATCACAACCAGCACAGATCACACCTAGCACACCCACAGATCACACCCAGCACACAGAAATCACACCCAGCACACCCACAGATCACACCCAGCACAGATCACACCCAGCACACCCACAGATGCTTATAGACAGACACACTCAGATGCCCATGATTACAGAAGGTCACATGCAAAGTTCACACACCAACCTGGAAGATGGAAAGACACCCATGGACTTTGTCTTAGGCTG... | pathogenic | 38,878 |
Does the variant impacting DYSF (dysferlin) on chromosome 2, position 71574238, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy', 'Miyoshi_muscular_dystrophy_1', 'Qualitative_or_quantitative_defects_of_dysferlin'] | AGATTACATCCAGCACACCCAGCACAGATCACACCCAGCACATGCACAGATCACACCTAGCACACCCACAGATCACAACCAGCACAGATCACACCTAGCACACCCACAGATCACACCCAGCACACAGAAATCACACCCAGCACACCCACAGATCACACCCAGCACAGATCACACCCAGCACACCCACAGATGCTTATAGACAGACACACTCAGATGCCCATGATTACAGAAGGTCACATGCAAAGTTCACACACCAACCTGGAAGATGGAAAGACACCCATGGACTTTGTCTTAGGCTGGGTTTCCTGGAGGCAGAAGCT... | AGATTACATCCAGCACACCCAGCACAGATCACACCCAGCACATGCACAGATCACACCTAGCACACCCACAGATCACAACCAGCACAGATCACACCTAGCACACCCACAGATCACACCCAGCACACAGAAATCACACCCAGCACACCCACAGATCACACCCAGCACAGATCACACCCAGCACACCCACAGATGCTTATAGACAGACACACTCAGATGCCCATGATTACAGAAGGTCACATGCAAAGTTCACACACCAACCTGGAAGATGGAAAGACACCCATGGACTTTGTCTTAGGCTGGGTTTCCTGGAGGCAGAAGCT... | pathogenic | 38,880 |
Clinical impact (benign or pathogenic) of the variant at chromosome 2, location 71574346, gene DYSF (dysferlin): what disease(s) if pathogenic? | pathogenic; ['Miyoshi_muscular_dystrophy_1'] | GATCACACCCAGCACACAGAAATCACACCCAGCACACCCACAGATCACACCCAGCACAGATCACACCCAGCACACCCACAGATGCTTATAGACAGACACACTCAGATGCCCATGATTACAGAAGGTCACATGCAAAGTTCACACACCAACCTGGAAGATGGAAAGACACCCATGGACTTTGTCTTAGGCTGGGTTTCCTGGAGGCAGAAGCTAAGACGTAGATTTGGCTGCACATTATTGGGGCAGTGCCCTCGGGAGTGTGAGGAGCAAGGATGCAGCTTCAGGCAGGTCAGCTGTGGCCTGAGCTGTGGCCTGGGGAA... | GATCACACCCAGCACACAGAAATCACACCCAGCACACCCACAGATCACACCCAGCACAGATCACACCCAGCACACCCACAGATGCTTATAGACAGACACACTCAGATGCCCATGATTACAGAAGGTCACATGCAAAGTTCACACACCAACCTGGAAGATGGAAAGACACCCATGGACTTTGTCTTAGGCTGGGTTTCCTGGAGGCAGAAGCTAAGACGTAGATTTGGCTGCACATTATTGGGGCAGTGCCCTCGGGAGTGTGAGGAGCAAGGATGCAGCTTCAGGCAGGTCAGCTGTGGCCTGAGCTGTGGCCTGGGGAA... | pathogenic | 38,886 |
Is the genetic variant on chromosome 2, position 71589610, gene DYSF (dysferlin), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Miyoshi_muscular_dystrophy_1', 'Qualitative_or_quantitative_defects_of_dysferlin'] | TACTGTGAACCAGGAAGTGTGCTAAGAACTACATCTTCTGTATCTTCTTTAATAATCAAAGCAACTCTCTAAAATAGATACTGTATAATTATCCCAAATTTATAAAGTGATTGATTCAGAGAAGTTAAGCCACTTGCCCAAAGTCACACAGCCAGTAGTAAACAGCAGGGCCAGAACTGGAGCCCGAGGAATCTGGTTTCAGAGCCCATGTTGAAGTTGTGGCCAAAGGAAGAGGAGAGTCCAGGCATCTCCCTGTCAGAAATGAGGATGTCCTGTGGTGGAAGTCAGAGCCCACCCAGGGATAGCAGGACCTTGGAGAG... | TACTGTGAACCAGGAAGTGTGCTAAGAACTACATCTTCTGTATCTTCTTTAATAATCAAAGCAACTCTCTAAAATAGATACTGTATAATTATCCCAAATTTATAAAGTGATTGATTCAGAGAAGTTAAGCCACTTGCCCAAAGTCACACAGCCAGTAGTAAACAGCAGGGCCAGAACTGGAGCCCGAGGAATCTGGTTTCAGAGCCCATGTTGAAGTTGTGGCCAAAGGAAGAGGAGAGTCCAGGCATCTCCCTGTCAGAAATGAGGATGTCCTGTGGTGGAAGTCAGAGCCCACCCAGGGATAGCAGGACCTTGGAGAG... | pathogenic | 38,891 |
Considering the genetic mutation at chromosome 2, position 71589626, impacting DYSF (dysferlin): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Miyoshi_muscular_dystrophy_1', 'Qualitative_or_quantitative_defects_of_dysferlin'] | GTGTGCTAAGAACTACATCTTCTGTATCTTCTTTAATAATCAAAGCAACTCTCTAAAATAGATACTGTATAATTATCCCAAATTTATAAAGTGATTGATTCAGAGAAGTTAAGCCACTTGCCCAAAGTCACACAGCCAGTAGTAAACAGCAGGGCCAGAACTGGAGCCCGAGGAATCTGGTTTCAGAGCCCATGTTGAAGTTGTGGCCAAAGGAAGAGGAGAGTCCAGGCATCTCCCTGTCAGAAATGAGGATGTCCTGTGGTGGAAGTCAGAGCCCACCCAGGGATAGCAGGACCTTGGAGAGTCCCCTGGGAGAATAG... | GTGTGCTAAGAACTACATCTTCTGTATCTTCTTTAATAATCAAAGCAACTCTCTAAAATAGATACTGTATAATTATCCCAAATTTATAAAGTGATTGATTCAGAGAAGTTAAGCCACTTGCCCAAAGTCACACAGCCAGTAGTAAACAGCAGGGCCAGAACTGGAGCCCGAGGAATCTGGTTTCAGAGCCCATGTTGAAGTTGTGGCCAAAGGAAGAGGAGAGTCCAGGCATCTCCCTGTCAGAAATGAGGATGTCCTGTGGTGGAAGTCAGAGCCCACCCAGGGATAGCAGGACCTTGGAGAGTCCCCTGGGAGAATAG... | pathogenic | 38,892 |
A mutation at chromosome position 71590212 on chromosome 2 in gene DYSF (dysferlin): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2B', 'Distal_myopathy_with_anterior_tibial_onset', 'Miyoshi_muscular_dystrophy_1', 'Qualitative_or_quantitative_defects_of_dysferlin'] | GGGTTTGGGGGAAGAAAGCCTTGGTGTCGGATGGGGAAAGATAGGGCGGGTCACTGGGGGTCTGAATGGGAGAAGGCTGGACTGGACCTTTCAGGCCACCGAAGGATTCAGGCCGAGGAGCTGCATAGTGACCGAGGGTGATGAAGCTGGTTTTGGCTTGGGGATGGCTGGCCAGAGGTGGGAGAACAGGTGTCTAGGGAGGCTTCTTGGACAAGGGGCTCTGGGACTGAGTCTTGAGGGTGGGCATGGTTTGGAGAGCAGGGGCACAGTAGTGGCAGTGGTGTCTTGTGTTGGAGGCACTGGGGGGCTTTGTAGCTTCA... | GGGTTTGGGGGAAGAAAGCCTTGGTGTCGGATGGGGAAAGATAGGGCGGGTCACTGGGGGTCTGAATGGGAGAAGGCTGGACTGGACCTTTCAGGCCACCGAAGGATTCAGGCCGAGGAGCTGCATAGTGACCGAGGGTGATGAAGCTGGTTTTGGCTTGGGGATGGCTGGCCAGAGGTGGGAGAACAGGTGTCTAGGGAGGCTTCTTGGACAAGGGGCTCTGGGACTGAGTCTTGAGGGTGGGCATGGTTTGGAGAGCAGGGGCACAGTAGTGGCAGTGGTGTCTTGTGTTGGAGGCACTGGGGGGCTTTGTAGCTTCA... | pathogenic | 38,898 |
Mutation found at chromosome 2 position 71590230, gene DYSF (dysferlin): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2B', 'Distal_myopathy_with_anterior_tibial_onset', 'Miyoshi_muscular_dystrophy_1', 'Qualitative_or_quantitative_defects_of_dysferlin'] | CCTTGGTGTCGGATGGGGAAAGATAGGGCGGGTCACTGGGGGTCTGAATGGGAGAAGGCTGGACTGGACCTTTCAGGCCACCGAAGGATTCAGGCCGAGGAGCTGCATAGTGACCGAGGGTGATGAAGCTGGTTTTGGCTTGGGGATGGCTGGCCAGAGGTGGGAGAACAGGTGTCTAGGGAGGCTTCTTGGACAAGGGGCTCTGGGACTGAGTCTTGAGGGTGGGCATGGTTTGGAGAGCAGGGGCACAGTAGTGGCAGTGGTGTCTTGTGTTGGAGGCACTGGGGGGCTTTGTAGCTTCAGAGCCTGGGGAGAGGTTG... | CCTTGGTGTCGGATGGGGAAAGATAGGGCGGGTCACTGGGGGTCTGAATGGGAGAAGGCTGGACTGGACCTTTCAGGCCACCGAAGGATTCAGGCCGAGGAGCTGCATAGTGACCGAGGGTGATGAAGCTGGTTTTGGCTTGGGGATGGCTGGCCAGAGGTGGGAGAACAGGTGTCTAGGGAGGCTTCTTGGACAAGGGGCTCTGGGACTGAGTCTTGAGGGTGGGCATGGTTTGGAGAGCAGGGGCACAGTAGTGGCAGTGGTGTCTTGTGTTGGAGGCACTGGGGGGCTTTGTAGCTTCAGAGCCTGGGGAGAGGTTG... | pathogenic | 38,899 |
Clinical impact (benign or pathogenic) of the variant at chromosome 2, location 71590271, gene DYSF (dysferlin): what disease(s) if pathogenic? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy', 'Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2B', 'Miyoshi_muscular_dystrophy_1', 'Qualitative_or_quantitative_defects_of_dysferlin'] | GTCTGAATGGGAGAAGGCTGGACTGGACCTTTCAGGCCACCGAAGGATTCAGGCCGAGGAGCTGCATAGTGACCGAGGGTGATGAAGCTGGTTTTGGCTTGGGGATGGCTGGCCAGAGGTGGGAGAACAGGTGTCTAGGGAGGCTTCTTGGACAAGGGGCTCTGGGACTGAGTCTTGAGGGTGGGCATGGTTTGGAGAGCAGGGGCACAGTAGTGGCAGTGGTGTCTTGTGTTGGAGGCACTGGGGGGCTTTGTAGCTTCAGAGCCTGGGGAGAGGTTGAAATTCTTGGGAAATGGTTCCAGGGTGAAGGTCAGGGTGGC... | GTCTGAATGGGAGAAGGCTGGACTGGACCTTTCAGGCCACCGAAGGATTCAGGCCGAGGAGCTGCATAGTGACCGAGGGTGATGAAGCTGGTTTTGGCTTGGGGATGGCTGGCCAGAGGTGGGAGAACAGGTGTCTAGGGAGGCTTCTTGGACAAGGGGCTCTGGGACTGAGTCTTGAGGGTGGGCATGGTTTGGAGAGCAGGGGCACAGTAGTGGCAGTGGTGTCTTGTGTTGGAGGCACTGGGGGGCTTTGTAGCTTCAGAGCCTGGGGAGAGGTTGAAATTCTTGGGAAATGGTTCCAGGGTGAAGGTCAGGGTGGC... | pathogenic | 38,901 |
Assess the variant on chromosome 2, position 71590277, impacting DYSF (dysferlin): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2B', 'Miyoshi_muscular_dystrophy_1', 'Qualitative_or_quantitative_defects_of_dysferlin'] | ATGGGAGAAGGCTGGACTGGACCTTTCAGGCCACCGAAGGATTCAGGCCGAGGAGCTGCATAGTGACCGAGGGTGATGAAGCTGGTTTTGGCTTGGGGATGGCTGGCCAGAGGTGGGAGAACAGGTGTCTAGGGAGGCTTCTTGGACAAGGGGCTCTGGGACTGAGTCTTGAGGGTGGGCATGGTTTGGAGAGCAGGGGCACAGTAGTGGCAGTGGTGTCTTGTGTTGGAGGCACTGGGGGGCTTTGTAGCTTCAGAGCCTGGGGAGAGGTTGAAATTCTTGGGAAATGGTTCCAGGGTGAAGGTCAGGGTGGCCCAGCA... | ATGGGAGAAGGCTGGACTGGACCTTTCAGGCCACCGAAGGATTCAGGCCGAGGAGCTGCATAGTGACCGAGGGTGATGAAGCTGGTTTTGGCTTGGGGATGGCTGGCCAGAGGTGGGAGAACAGGTGTCTAGGGAGGCTTCTTGGACAAGGGGCTCTGGGACTGAGTCTTGAGGGTGGGCATGGTTTGGAGAGCAGGGGCACAGTAGTGGCAGTGGTGTCTTGTGTTGGAGGCACTGGGGGGCTTTGTAGCTTCAGAGCCTGGGGAGAGGTTGAAATTCTTGGGAAATGGTTCCAGGGTGAAGGTCAGGGTGGCCCAGCA... | pathogenic | 38,902 |
A mutation at chromosome position 71590280 on chromosome 2 in gene DYSF (dysferlin): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2B', 'Miyoshi_muscular_dystrophy_1', 'Qualitative_or_quantitative_defects_of_dysferlin'] | GGAGAAGGCTGGACTGGACCTTTCAGGCCACCGAAGGATTCAGGCCGAGGAGCTGCATAGTGACCGAGGGTGATGAAGCTGGTTTTGGCTTGGGGATGGCTGGCCAGAGGTGGGAGAACAGGTGTCTAGGGAGGCTTCTTGGACAAGGGGCTCTGGGACTGAGTCTTGAGGGTGGGCATGGTTTGGAGAGCAGGGGCACAGTAGTGGCAGTGGTGTCTTGTGTTGGAGGCACTGGGGGGCTTTGTAGCTTCAGAGCCTGGGGAGAGGTTGAAATTCTTGGGAAATGGTTCCAGGGTGAAGGTCAGGGTGGCCCAGCAGAA... | GGAGAAGGCTGGACTGGACCTTTCAGGCCACCGAAGGATTCAGGCCGAGGAGCTGCATAGTGACCGAGGGTGATGAAGCTGGTTTTGGCTTGGGGATGGCTGGCCAGAGGTGGGAGAACAGGTGTCTAGGGAGGCTTCTTGGACAAGGGGCTCTGGGACTGAGTCTTGAGGGTGGGCATGGTTTGGAGAGCAGGGGCACAGTAGTGGCAGTGGTGTCTTGTGTTGGAGGCACTGGGGGGCTTTGTAGCTTCAGAGCCTGGGGAGAGGTTGAAATTCTTGGGAAATGGTTCCAGGGTGAAGGTCAGGGTGGCCCAGCAGAA... | pathogenic | 38,903 |
The chromosome 2, position 71590280 genetic variant in gene DYSF (dysferlin): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy', 'Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2B', 'Distal_myopathy_with_anterior_tibial_onset', 'Miyoshi_muscular_dystrophy_1', 'Qualitative_or_quantitative_defects_of_dysferlin'] | GGAGAAGGCTGGACTGGACCTTTCAGGCCACCGAAGGATTCAGGCCGAGGAGCTGCATAGTGACCGAGGGTGATGAAGCTGGTTTTGGCTTGGGGATGGCTGGCCAGAGGTGGGAGAACAGGTGTCTAGGGAGGCTTCTTGGACAAGGGGCTCTGGGACTGAGTCTTGAGGGTGGGCATGGTTTGGAGAGCAGGGGCACAGTAGTGGCAGTGGTGTCTTGTGTTGGAGGCACTGGGGGGCTTTGTAGCTTCAGAGCCTGGGGAGAGGTTGAAATTCTTGGGAAATGGTTCCAGGGTGAAGGTCAGGGTGGCCCAGCAGAA... | GGAGAAGGCTGGACTGGACCTTTCAGGCCACCGAAGGATTCAGGCCGAGGAGCTGCATAGTGACCGAGGGTGATGAAGCTGGTTTTGGCTTGGGGATGGCTGGCCAGAGGTGGGAGAACAGGTGTCTAGGGAGGCTTCTTGGACAAGGGGCTCTGGGACTGAGTCTTGAGGGTGGGCATGGTTTGGAGAGCAGGGGCACAGTAGTGGCAGTGGTGTCTTGTGTTGGAGGCACTGGGGGGCTTTGTAGCTTCAGAGCCTGGGGAGAGGTTGAAATTCTTGGGAAATGGTTCCAGGGTGAAGGTCAGGGTGGCCCAGCAGAA... | pathogenic | 38,904 |
Is the variant located on chromosome 2 at position 71600706, gene DYSF (dysferlin), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Abnormality_of_the_musculature', 'Autosomal_recessive_limb-girdle_muscular_dystrophy', 'Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2B', 'Qualitative_or_quantitative_defects_of_dysferlin'] | CTACGAGATCGAGATCTTTGGCGAGCCGGCCACAGTTGCTGAGCAACCGCCCAGCATTGTGGTGGAGCTGTACGACCATGACACTTATGTGAGTCTGCCCAGCTCCTGCCTCGTCCCCTCACAGGGAGGGACCATGTGCAAAGGTGGGGTCTCCAGGGACTCGTGGCTGCCCAGCCAGATGGGTGCTCTCCTAACTCCACGGGCCCTAGAACAATTAAAATAATTTTAGAGTCATTAAAAATGGATTGCTAGCACAGATGCCGTTCCCACAGCAGACATTGCTCATCAGTGGAAGGGAACATATCCGGAAAAGGCGCTTG... | CTACGAGATCGAGATCTTTGGCGAGCCGGCCACAGTTGCTGAGCAACCGCCCAGCATTGTGGTGGAGCTGTACGACCATGACACTTATGTGAGTCTGCCCAGCTCCTGCCTCGTCCCCTCACAGGGAGGGACCATGTGCAAAGGTGGGGTCTCCAGGGACTCGTGGCTGCCCAGCCAGATGGGTGCTCTCCTAACTCCACGGGCCCTAGAACAATTAAAATAATTTTAGAGTCATTAAAAATGGATTGCTAGCACAGATGCCGTTCCCACAGCAGACATTGCTCATCAGTGGAAGGGAACATATCCGGAAAAGGCGCTTG... | pathogenic | 38,914 |
Variant in DYSF (dysferlin), chromosome 2, position 71600729—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Qualitative_or_quantitative_defects_of_dysferlin'] | AGCCGGCCACAGTTGCTGAGCAACCGCCCAGCATTGTGGTGGAGCTGTACGACCATGACACTTATGTGAGTCTGCCCAGCTCCTGCCTCGTCCCCTCACAGGGAGGGACCATGTGCAAAGGTGGGGTCTCCAGGGACTCGTGGCTGCCCAGCCAGATGGGTGCTCTCCTAACTCCACGGGCCCTAGAACAATTAAAATAATTTTAGAGTCATTAAAAATGGATTGCTAGCACAGATGCCGTTCCCACAGCAGACATTGCTCATCAGTGGAAGGGAACATATCCGGAAAAGGCGCTTGGTTGTGGGTCAGGGGCTTGGGTT... | AGCCGGCCACAGTTGCTGAGCAACCGCCCAGCATTGTGGTGGAGCTGTACGACCATGACACTTATGTGAGTCTGCCCAGCTCCTGCCTCGTCCCCTCACAGGGAGGGACCATGTGCAAAGGTGGGGTCTCCAGGGACTCGTGGCTGCCCAGCCAGATGGGTGCTCTCCTAACTCCACGGGCCCTAGAACAATTAAAATAATTTTAGAGTCATTAAAAATGGATTGCTAGCACAGATGCCGTTCCCACAGCAGACATTGCTCATCAGTGGAAGGGAACATATCCGGAAAAGGCGCTTGGTTGTGGGTCAGGGGCTTGGGTT... | pathogenic | 38,915 |
Assess the variant on chromosome 2, position 71600783, impacting DYSF (dysferlin): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Miyoshi_muscular_dystrophy_1', 'Qualitative_or_quantitative_defects_of_dysferlin'] | ATGACACTTATGTGAGTCTGCCCAGCTCCTGCCTCGTCCCCTCACAGGGAGGGACCATGTGCAAAGGTGGGGTCTCCAGGGACTCGTGGCTGCCCAGCCAGATGGGTGCTCTCCTAACTCCACGGGCCCTAGAACAATTAAAATAATTTTAGAGTCATTAAAAATGGATTGCTAGCACAGATGCCGTTCCCACAGCAGACATTGCTCATCAGTGGAAGGGAACATATCCGGAAAAGGCGCTTGGTTGTGGGTCAGGGGCTTGGGTTTTCTCTGCCTCTGCCTCGCCTGTGTGATCCCAGGCCAGTCCCTTCTTCTCATCG... | ATGACACTTATGTGAGTCTGCCCAGCTCCTGCCTCGTCCCCTCACAGGGAGGGACCATGTGCAAAGGTGGGGTCTCCAGGGACTCGTGGCTGCCCAGCCAGATGGGTGCTCTCCTAACTCCACGGGCCCTAGAACAATTAAAATAATTTTAGAGTCATTAAAAATGGATTGCTAGCACAGATGCCGTTCCCACAGCAGACATTGCTCATCAGTGGAAGGGAACATATCCGGAAAAGGCGCTTGGTTGTGGGTCAGGGGCTTGGGTTTTCTCTGCCTCTGCCTCGCCTGTGTGATCCCAGGCCAGTCCCTTCTTCTCATCG... | pathogenic | 38,918 |
Gene DYSF (dysferlin) variant at chromosome 2, position 71600799—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Miyoshi_muscular_dystrophy_1', 'Qualitative_or_quantitative_defects_of_dysferlin'] | TCTGCCCAGCTCCTGCCTCGTCCCCTCACAGGGAGGGACCATGTGCAAAGGTGGGGTCTCCAGGGACTCGTGGCTGCCCAGCCAGATGGGTGCTCTCCTAACTCCACGGGCCCTAGAACAATTAAAATAATTTTAGAGTCATTAAAAATGGATTGCTAGCACAGATGCCGTTCCCACAGCAGACATTGCTCATCAGTGGAAGGGAACATATCCGGAAAAGGCGCTTGGTTGTGGGTCAGGGGCTTGGGTTTTCTCTGCCTCTGCCTCGCCTGTGTGATCCCAGGCCAGTCCCTTCTTCTCATCGAGGAGCTGCGTGGAAT... | TCTGCCCAGCTCCTGCCTCGTCCCCTCACAGGGAGGGACCATGTGCAAAGGTGGGGTCTCCAGGGACTCGTGGCTGCCCAGCCAGATGGGTGCTCTCCTAACTCCACGGGCCCTAGAACAATTAAAATAATTTTAGAGTCATTAAAAATGGATTGCTAGCACAGATGCCGTTCCCACAGCAGACATTGCTCATCAGTGGAAGGGAACATATCCGGAAAAGGCGCTTGGTTGTGGGTCAGGGGCTTGGGTTTTCTCTGCCTCTGCCTCGCCTGTGTGATCCCAGGCCAGTCCCTTCTTCTCATCGAGGAGCTGCGTGGAAT... | pathogenic | 38,919 |
Benign or pathogenic: chromosome 2, position 71611582, gene DYSF (dysferlin) variant? Disease(s) if pathogenic? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2B'] | TGTGCCAGGCGCTCTTCAGATGTGTTCTCTCATTTAATTCTCGGAGCAGCTTATCTCAGATCTTCATCTGAGAATACTGAGTCACTGAAGTTGAGTAATCTGTCCAAGGCCTAATGGCGAGGAGGTGGCAGAGCTGGAACTAGAGTTGAGGTCTGATTCTAGGACTAAGCTTCCAACTGCTGTAGGTTGGGGGAAACATGGTGTCATCAGGGTGTCGCTGCACAGGAGTGTGGCTTGGGTTGGCTGTGAAGTGATTCATGGAGGTGGGGGGAAGCTGATATCTTTCTCTGCTTTGACTGCTCCCACCATCTATGGCAGAG... | TGTGCCAGGCGCTCTTCAGATGTGTTCTCTCATTTAATTCTCGGAGCAGCTTATCTCAGATCTTCATCTGAGAATACTGAGTCACTGAAGTTGAGTAATCTGTCCAAGGCCTAATGGCGAGGAGGTGGCAGAGCTGGAACTAGAGTTGAGGTCTGATTCTAGGACTAAGCTTCCAACTGCTGTAGGTTGGGGGAAACATGGTGTCATCAGGGTGTCGCTGCACAGGAGTGTGGCTTGGGTTGGCTGTGAAGTGATTCATGGAGGTGGGGGGAAGCTGATATCTTTCTCTGCTTTGACTGCTCCCACCATCTATGGCAGAG... | pathogenic | 38,950 |
Is the genetic variant on chromosome 2, position 71612666, gene DYSF (dysferlin), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2B', 'Distal_myopathy_with_anterior_tibial_onset', 'Miyoshi_muscular_dystrophy_1', 'Qualitative_or_quantitative_defects_of_dysferlin'] | CCAGCAGTGTGCTTTGGTGCTCTGGGGAGCCCCTTCTCCCATTGCTCAGTTGTTCTCTTTCTGGCTCACAATGCAAGTATTCTGTCCTCACAGGGGACAGGCGTGAGAGGTGGGGGTTTGGGGCTGGAAGGTGTCTAGGGGTGGGGAAGAAATACCAGGACAGATGATAACCCGGAAGGGTCTGAGCCAGGAGGCAGGAGAACCAGGCTGGCGGGCAGGCACATGGTCCTCTCTGGGACTGAGAGGGGCTGAAGTGGATCTGCCAGGATGGAATAGGCAGTGTGTGCACGCATATGCTGTGTGCGTATCAGGGAGGGGCA... | CCAGCAGTGTGCTTTGGTGCTCTGGGGAGCCCCTTCTCCCATTGCTCAGTTGTTCTCTTTCTGGCTCACAATGCAAGTATTCTGTCCTCACAGGGGACAGGCGTGAGAGGTGGGGGTTTGGGGCTGGAAGGTGTCTAGGGGTGGGGAAGAAATACCAGGACAGATGATAACCCGGAAGGGTCTGAGCCAGGAGGCAGGAGAACCAGGCTGGCGGGCAGGCACATGGTCCTCTCTGGGACTGAGAGGGGCTGAAGTGGATCTGCCAGGATGGAATAGGCAGTGTGTGCACGCATATGCTGTGTGCGTATCAGGGAGGGGCA... | pathogenic | 38,955 |
Regarding the variant at chromosome 2 and position 71612666, affecting gene DYSF (dysferlin): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy', 'Miyoshi_muscular_dystrophy_1', 'Qualitative_or_quantitative_defects_of_dysferlin'] | CCAGCAGTGTGCTTTGGTGCTCTGGGGAGCCCCTTCTCCCATTGCTCAGTTGTTCTCTTTCTGGCTCACAATGCAAGTATTCTGTCCTCACAGGGGACAGGCGTGAGAGGTGGGGGTTTGGGGCTGGAAGGTGTCTAGGGGTGGGGAAGAAATACCAGGACAGATGATAACCCGGAAGGGTCTGAGCCAGGAGGCAGGAGAACCAGGCTGGCGGGCAGGCACATGGTCCTCTCTGGGACTGAGAGGGGCTGAAGTGGATCTGCCAGGATGGAATAGGCAGTGTGTGCACGCATATGCTGTGTGCGTATCAGGGAGGGGCA... | CCAGCAGTGTGCTTTGGTGCTCTGGGGAGCCCCTTCTCCCATTGCTCAGTTGTTCTCTTTCTGGCTCACAATGCAAGTATTCTGTCCTCACAGGGGACAGGCGTGAGAGGTGGGGGTTTGGGGCTGGAAGGTGTCTAGGGGTGGGGAAGAAATACCAGGACAGATGATAACCCGGAAGGGTCTGAGCCAGGAGGCAGGAGAACCAGGCTGGCGGGCAGGCACATGGTCCTCTCTGGGACTGAGAGGGGCTGAAGTGGATCTGCCAGGATGGAATAGGCAGTGTGTGCACGCATATGCTGTGTGCGTATCAGGGAGGGGCA... | pathogenic | 38,956 |
Chromosome 2, position 71612815, gene DYSF (dysferlin): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | benign | AAATACCAGGACAGATGATAACCCGGAAGGGTCTGAGCCAGGAGGCAGGAGAACCAGGCTGGCGGGCAGGCACATGGTCCTCTCTGGGACTGAGAGGGGCTGAAGTGGATCTGCCAGGATGGAATAGGCAGTGTGTGCACGCATATGCTGTGTGCGTATCAGGGAGGGGCAGACCCGGAGCAGCTCAGGGGGCATCAGAGCCTGCATTATGGGAGGAGGGGTGACGGGATTCAGTTGGAACAAGGTGACCTGAACCCTGGATGAAGGTGCTGGAATTGTGATCCTGGAGAAGATGATGCCTGGCCGAAACTGACTTAGCT... | AAATACCAGGACAGATGATAACCCGGAAGGGTCTGAGCCAGGAGGCAGGAGAACCAGGCTGGCGGGCAGGCACATGGTCCTCTCTGGGACTGAGAGGGGCTGAAGTGGATCTGCCAGGATGGAATAGGCAGTGTGTGCACGCATATGCTGTGTGCGTATCAGGGAGGGGCAGACCCGGAGCAGCTCAGGGGGCATCAGAGCCTGCATTATGGGAGGAGGGGTGACGGGATTCAGTTGGAACAAGGTGACCTGAACCCTGGATGAAGGTGCTGGAATTGTGATCCTGGAGAAGATGATGCCTGGCCGAAACTGACTTAGCT... | benign | 38,963 |
Classify the chromosome 2 variant at position 71643962 affecting gene DYSF (dysferlin) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2B', 'Distal_myopathy_with_anterior_tibial_onset', 'Miyoshi_muscular_dystrophy_1', 'Qualitative_or_quantitative_defects_of_dysferlin'] | TATTTTTTTCTAAGTGCTCCAAAGATGCTGGAAAAGAAGGTATATCTTCTGTTTTTAGTGTAAATAATGTTTGTCTATTTAGTTGTCACTGTTAATGGTATTATTCAGACTATCTGTCTCTAATTCCTTTGGAAATTTACTTGGTTATTCAGGATTGAGGGAAGTGTGATACCTTCCCCACAATTCTTGTTCCTGTCTTTTCTTTGTACAGAACTCACTGGTTGGTTGTCTGTCTGTGCCTGACTCTGAGCCTGAGTTATAAACTCAAACCTTTAAGTATTTGGGCTGGGAAAGAAAAATAAAGATTTAGGGGAACTCAA... | TATTTTTTTCTAAGTGCTCCAAAGATGCTGGAAAAGAAGGTATATCTTCTGTTTTTAGTGTAAATAATGTTTGTCTATTTAGTTGTCACTGTTAATGGTATTATTCAGACTATCTGTCTCTAATTCCTTTGGAAATTTACTTGGTTATTCAGGATTGAGGGAAGTGTGATACCTTCCCCACAATTCTTGTTCCTGTCTTTTCTTTGTACAGAACTCACTGGTTGGTTGTCTGTCTGTGCCTGACTCTGAGCCTGAGTTATAAACTCAAACCTTTAAGTATTTGGGCTGGGAAAGAAAAATAAAGATTTAGGGGAACTCAA... | pathogenic | 38,976 |
Gene DYSF (dysferlin) variant at chromosome 2, position 71644047—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy'] | TCACTGTTAATGGTATTATTCAGACTATCTGTCTCTAATTCCTTTGGAAATTTACTTGGTTATTCAGGATTGAGGGAAGTGTGATACCTTCCCCACAATTCTTGTTCCTGTCTTTTCTTTGTACAGAACTCACTGGTTGGTTGTCTGTCTGTGCCTGACTCTGAGCCTGAGTTATAAACTCAAACCTTTAAGTATTTGGGCTGGGAAAGAAAAATAAAGATTTAGGGGAACTCAACAGCTAAATTGGATTCCATTCTAACCATTTCTACCTAAGTGTCCATGTTTGCCTGTGTGCCAGTATGTGCAGTTGTGTGTTTCTG... | TCACTGTTAATGGTATTATTCAGACTATCTGTCTCTAATTCCTTTGGAAATTTACTTGGTTATTCAGGATTGAGGGAAGTGTGATACCTTCCCCACAATTCTTGTTCCTGTCTTTTCTTTGTACAGAACTCACTGGTTGGTTGTCTGTCTGTGCCTGACTCTGAGCCTGAGTTATAAACTCAAACCTTTAAGTATTTGGGCTGGGAAAGAAAAATAAAGATTTAGGGGAACTCAACAGCTAAATTGGATTCCATTCTAACCATTTCTACCTAAGTGTCCATGTTTGCCTGTGTGCCAGTATGTGCAGTTGTGTGTTTCTG... | pathogenic | 38,981 |
A genetic variant at chromosome 2, position 71656204, affecting gene DYSF (dysferlin)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2B', 'Miyoshi_muscular_dystrophy_1', 'Qualitative_or_quantitative_defects_of_dysferlin'] | TATTATTATTATCTCTATTAAATAAATGCAATTTAAAATTCAGCATACCATCTTCTATCTATCAAATTAACAAAGCTAAAAATGGGTGAAAGTGTACAGTGATGGTGAAAGGCTGGGAGTGTGGGCACACTTGAACACTGTAGATAGGAGTATATAAATCCATACAATTTTTCCAGAGAGCAATTTGTGCACATCAGAGGTCTTAAAATGTGCATACTCCTTGTCCAGGAATTCTTTTTCTGGGAGCTTATAATAAAGATGAATTTAAACAAGTGCACAAAACACTTGGATAGGAGATTTTAAAACTCCCACACCGTATA... | TATTATTATTATCTCTATTAAATAAATGCAATTTAAAATTCAGCATACCATCTTCTATCTATCAAATTAACAAAGCTAAAAATGGGTGAAAGTGTACAGTGATGGTGAAAGGCTGGGAGTGTGGGCACACTTGAACACTGTAGATAGGAGTATATAAATCCATACAATTTTTCCAGAGAGCAATTTGTGCACATCAGAGGTCTTAAAATGTGCATACTCCTTGTCCAGGAATTCTTTTTCTGGGAGCTTATAATAAAGATGAATTTAAACAAGTGCACAAAACACTTGGATAGGAGATTTTAAAACTCCCACACCGTATA... | pathogenic | 38,985 |
Classify the chromosome 2 variant at position 71658886 affecting gene DYSF (dysferlin) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Miyoshi_muscular_dystrophy_1'] | CTCCCCCAACACGTGGGAATTCTGGGAGATACAATTGGAGTTGAGATTTGAGTGGGAATGCAGCCAAACCATATCATTCTGCCCCTGGCCCCTCCAAATCTCATGTTCTCACATTTCAAAACCAATTATGCCTTCCTTAGAGTCCCCCAAAGTTAACTCATTTCAGCATTAACCCAAAAGTCCACAGTCCAAAGTCTCATCTGAGACAAGGCATAGTCCCTTCCACCTATGAGCCTGTAATATCAAAAGTAAGGTAGTTACTTCCTAGATACAATGGGGGTGCAGGTATTGGGTAAATACAGCCATTCCAAATGGGAGAA... | CTCCCCCAACACGTGGGAATTCTGGGAGATACAATTGGAGTTGAGATTTGAGTGGGAATGCAGCCAAACCATATCATTCTGCCCCTGGCCCCTCCAAATCTCATGTTCTCACATTTCAAAACCAATTATGCCTTCCTTAGAGTCCCCCAAAGTTAACTCATTTCAGCATTAACCCAAAAGTCCACAGTCCAAAGTCTCATCTGAGACAAGGCATAGTCCCTTCCACCTATGAGCCTGTAATATCAAAAGTAAGGTAGTTACTTCCTAGATACAATGGGGGTGCAGGTATTGGGTAAATACAGCCATTCCAAATGGGAGAA... | pathogenic | 38,993 |
Evaluate the clinical significance of the mutation at chromosome 2, position 71658923 in gene DYSF (dysferlin): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2B', 'Miyoshi_muscular_dystrophy_1', 'Qualitative_or_quantitative_defects_of_dysferlin'] | GAGTTGAGATTTGAGTGGGAATGCAGCCAAACCATATCATTCTGCCCCTGGCCCCTCCAAATCTCATGTTCTCACATTTCAAAACCAATTATGCCTTCCTTAGAGTCCCCCAAAGTTAACTCATTTCAGCATTAACCCAAAAGTCCACAGTCCAAAGTCTCATCTGAGACAAGGCATAGTCCCTTCCACCTATGAGCCTGTAATATCAAAAGTAAGGTAGTTACTTCCTAGATACAATGGGGGTGCAGGTATTGGGTAAATACAGCCATTCCAAATGGGAGAAATTGGCCAAAACCAAAAGGTTACAGGGCTCATGCAAG... | GAGTTGAGATTTGAGTGGGAATGCAGCCAAACCATATCATTCTGCCCCTGGCCCCTCCAAATCTCATGTTCTCACATTTCAAAACCAATTATGCCTTCCTTAGAGTCCCCCAAAGTTAACTCATTTCAGCATTAACCCAAAAGTCCACAGTCCAAAGTCTCATCTGAGACAAGGCATAGTCCCTTCCACCTATGAGCCTGTAATATCAAAAGTAAGGTAGTTACTTCCTAGATACAATGGGGGTGCAGGTATTGGGTAAATACAGCCATTCCAAATGGGAGAAATTGGCCAAAACCAAAAGGTTACAGGGCTCATGCAAG... | pathogenic | 38,994 |
Clinical impact (benign or pathogenic) of the variant at chromosome 2, location 71660586, gene DYSF (dysferlin): what disease(s) if pathogenic? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2B', 'Miyoshi_muscular_dystrophy_1', 'Proximal_muscle_weakness', 'Qualitative_or_quantitative_defects_of_dysferlin'] | GAGGTTTAATTGAACTTACAGTTCCACATGGCTGGCAAGGCCTCAGAATCATGGCAGGAGGTGAAAGGCAGTTCTTACATGGTAGTGGCAAGAGAAAAGGAGGAGGAAGCAAAAGCAGAAACACCTGATAAACCCAACAGATCTCATGATACTTATTTACTATCACGAGAATAGCATGGGAAAGACTGGCCCCCATGATTCAATTATCTCCTCCTGGGTCCCTCCCACAACATGTGGGAATTCTGGGAGATACAATTCAAGTTGAGATTTGGGTGGGGACACAGCCAAACCATATCAACAATGATGATAAAAATGAAAAT... | GAGGTTTAATTGAACTTACAGTTCCACATGGCTGGCAAGGCCTCAGAATCATGGCAGGAGGTGAAAGGCAGTTCTTACATGGTAGTGGCAAGAGAAAAGGAGGAGGAAGCAAAAGCAGAAACACCTGATAAACCCAACAGATCTCATGATACTTATTTACTATCACGAGAATAGCATGGGAAAGACTGGCCCCCATGATTCAATTATCTCCTCCTGGGTCCCTCCCACAACATGTGGGAATTCTGGGAGATACAATTCAAGTTGAGATTTGGGTGGGGACACAGCCAAACCATATCAACAATGATGATAAAAATGAAAAT... | pathogenic | 39,002 |
Is chromosome 2, position 71660601, gene DYSF (dysferlin) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2B', 'Distal_myopathy_with_anterior_tibial_onset', 'Miyoshi_muscular_dystrophy_1', 'Qualitative_or_quantitative_defects_of_dysferlin'] | TTACAGTTCCACATGGCTGGCAAGGCCTCAGAATCATGGCAGGAGGTGAAAGGCAGTTCTTACATGGTAGTGGCAAGAGAAAAGGAGGAGGAAGCAAAAGCAGAAACACCTGATAAACCCAACAGATCTCATGATACTTATTTACTATCACGAGAATAGCATGGGAAAGACTGGCCCCCATGATTCAATTATCTCCTCCTGGGTCCCTCCCACAACATGTGGGAATTCTGGGAGATACAATTCAAGTTGAGATTTGGGTGGGGACACAGCCAAACCATATCAACAATGATGATAAAAATGAAAATTAACCCTTCCTTCTT... | TTACAGTTCCACATGGCTGGCAAGGCCTCAGAATCATGGCAGGAGGTGAAAGGCAGTTCTTACATGGTAGTGGCAAGAGAAAAGGAGGAGGAAGCAAAAGCAGAAACACCTGATAAACCCAACAGATCTCATGATACTTATTTACTATCACGAGAATAGCATGGGAAAGACTGGCCCCCATGATTCAATTATCTCCTCCTGGGTCCCTCCCACAACATGTGGGAATTCTGGGAGATACAATTCAAGTTGAGATTTGGGTGGGGACACAGCCAAACCATATCAACAATGATGATAAAAATGAAAATTAACCCTTCCTTCTT... | pathogenic | 39,003 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 2, position 71660636, gene DYSF (dysferlin). What disease(s) is it linked to if pathogenic? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2B', 'Distal_myopathy_with_anterior_tibial_onset', 'Miyoshi_muscular_dystrophy_1'] | ATGGCAGGAGGTGAAAGGCAGTTCTTACATGGTAGTGGCAAGAGAAAAGGAGGAGGAAGCAAAAGCAGAAACACCTGATAAACCCAACAGATCTCATGATACTTATTTACTATCACGAGAATAGCATGGGAAAGACTGGCCCCCATGATTCAATTATCTCCTCCTGGGTCCCTCCCACAACATGTGGGAATTCTGGGAGATACAATTCAAGTTGAGATTTGGGTGGGGACACAGCCAAACCATATCAACAATGATGATAAAAATGAAAATTAACCCTTCCTTCTTTTCAGGGCCTCTTCAAAATTTATCCCCTCCCAGAA... | ATGGCAGGAGGTGAAAGGCAGTTCTTACATGGTAGTGGCAAGAGAAAAGGAGGAGGAAGCAAAAGCAGAAACACCTGATAAACCCAACAGATCTCATGATACTTATTTACTATCACGAGAATAGCATGGGAAAGACTGGCCCCCATGATTCAATTATCTCCTCCTGGGTCCCTCCCACAACATGTGGGAATTCTGGGAGATACAATTCAAGTTGAGATTTGGGTGGGGACACAGCCAAACCATATCAACAATGATGATAAAAATGAAAATTAACCCTTCCTTCTTTTCAGGGCCTCTTCAAAATTTATCCCCTCCCAGAA... | pathogenic | 39,005 |
Is the genetic change at chromosome 2, position 71660637, within gene DYSF (dysferlin) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2B', 'Distal_myopathy_with_anterior_tibial_onset', 'Miyoshi_muscular_dystrophy_1', 'Qualitative_or_quantitative_defects_of_dysferlin'] | TGGCAGGAGGTGAAAGGCAGTTCTTACATGGTAGTGGCAAGAGAAAAGGAGGAGGAAGCAAAAGCAGAAACACCTGATAAACCCAACAGATCTCATGATACTTATTTACTATCACGAGAATAGCATGGGAAAGACTGGCCCCCATGATTCAATTATCTCCTCCTGGGTCCCTCCCACAACATGTGGGAATTCTGGGAGATACAATTCAAGTTGAGATTTGGGTGGGGACACAGCCAAACCATATCAACAATGATGATAAAAATGAAAATTAACCCTTCCTTCTTTTCAGGGCCTCTTCAAAATTTATCCCCTCCCAGAAG... | TGGCAGGAGGTGAAAGGCAGTTCTTACATGGTAGTGGCAAGAGAAAAGGAGGAGGAAGCAAAAGCAGAAACACCTGATAAACCCAACAGATCTCATGATACTTATTTACTATCACGAGAATAGCATGGGAAAGACTGGCCCCCATGATTCAATTATCTCCTCCTGGGTCCCTCCCACAACATGTGGGAATTCTGGGAGATACAATTCAAGTTGAGATTTGGGTGGGGACACAGCCAAACCATATCAACAATGATGATAAAAATGAAAATTAACCCTTCCTTCTTTTCAGGGCCTCTTCAAAATTTATCCCCTCCCAGAAG... | pathogenic | 39,006 |
A genetic variant at chromosome 2, position 71664288, affecting gene DYSF (dysferlin)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Miyoshi_muscular_dystrophy_1', 'Qualitative_or_quantitative_defects_of_dysferlin'] | TACCTTCTCCTTTCCCCTGAGGAAACTGACAGGCAGGTGACTTTTCTGCTCACATTGAGCTCAGCCACTTTAACTCACGAACCCAGTCTCAGGCCATAACCCACTGCCCATTTGTATGGAATCCCGAGCTCCCTGATGGCTCTAGGGGAGTGTGTCCCCTCTTTGGATGCAGTTGTGTGTGTATATGTGTGTATGTATGTGTGTGTATGTGTGTATATGTGCACATATGTGCGTGCGTGTGTATGTATTTGTGTGTATGTGTGTGTATATGTGTATGTGTGTCTGTGTTCGTGTGTCTGTGTGGTGTGTGTATATATGTG... | TACCTTCTCCTTTCCCCTGAGGAAACTGACAGGCAGGTGACTTTTCTGCTCACATTGAGCTCAGCCACTTTAACTCACGAACCCAGTCTCAGGCCATAACCCACTGCCCATTTGTATGGAATCCCGAGCTCCCTGATGGCTCTAGGGGAGTGTGTCCCCTCTTTGGATGCAGTTGTGTGTGTATATGTGTGTATGTATGTGTGTGTATGTGTGTATATGTGCACATATGTGCGTGCGTGTGTATGTATTTGTGTGTATGTGTGTGTATATGTGTATGTGTGTCTGTGTTCGTGTGTCTGTGTGGTGTGTGTATATATGTG... | pathogenic | 39,012 |
Mutation found at chromosome 2 position 71664400, gene DYSF (dysferlin): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2B', 'Miyoshi_muscular_dystrophy_1', 'Qualitative_or_quantitative_defects_of_dysferlin'] | TGTATGGAATCCCGAGCTCCCTGATGGCTCTAGGGGAGTGTGTCCCCTCTTTGGATGCAGTTGTGTGTGTATATGTGTGTATGTATGTGTGTGTATGTGTGTATATGTGCACATATGTGCGTGCGTGTGTATGTATTTGTGTGTATGTGTGTGTATATGTGTATGTGTGTCTGTGTTCGTGTGTCTGTGTGGTGTGTGTATATATGTGTGCATGTGTATTTGTGTGTATACATGTGTGTAGGTGTATGCGTCTGTGTGTGTCTGTGTGTCTGTGTGGCATGTGTGTATTTTGTGTGTATGTGTCTCTGTGTCCATGTGTC... | TGTATGGAATCCCGAGCTCCCTGATGGCTCTAGGGGAGTGTGTCCCCTCTTTGGATGCAGTTGTGTGTGTATATGTGTGTATGTATGTGTGTGTATGTGTGTATATGTGCACATATGTGCGTGCGTGTGTATGTATTTGTGTGTATGTGTGTGTATATGTGTATGTGTGTCTGTGTTCGTGTGTCTGTGTGGTGTGTGTATATATGTGTGCATGTGTATTTGTGTGTATACATGTGTGTAGGTGTATGCGTCTGTGTGTGTCTGTGTGTCTGTGTGGCATGTGTGTATTTTGTGTGTATGTGTCTCTGTGTCCATGTGTC... | pathogenic | 39,015 |
The chromosome 2, position 71665185 genetic variant in gene DYSF (dysferlin): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2B', 'Miyoshi_muscular_dystrophy_1', 'Qualitative_or_quantitative_defects_of_dysferlin'] | CTGACTCCTGCAGTGTCTGGGCTGGGGAGAGGGCCCGTCTCATGTGCCCACCACCGCTGTCATCCGGGTACTCTCTGGACCACGGATGTTGAAAGCCGACTTATTTTCCTGTGGGTGCTTTCCAGAGGTTCCTCAGAGAGCCCCCCGTGAGCCCTCCCACTGCACTTTCTGGGATATGGCAGATGCTGCGTCCCTTTAGCTGCTGTCCCCAGCCCCTGGTTCTCAGATGGTCAACTCCACAATCTCTCGCTGCTACAACCCTCTGGGGGTCTCACAGGGCAGGATTCAGAGCAGTTCCAGTCTGGCCTCAGAGTGGTTTC... | CTGACTCCTGCAGTGTCTGGGCTGGGGAGAGGGCCCGTCTCATGTGCCCACCACCGCTGTCATCCGGGTACTCTCTGGACCACGGATGTTGAAAGCCGACTTATTTTCCTGTGGGTGCTTTCCAGAGGTTCCTCAGAGAGCCCCCCGTGAGCCCTCCCACTGCACTTTCTGGGATATGGCAGATGCTGCGTCCCTTTAGCTGCTGTCCCCAGCCCCTGGTTCTCAGATGGTCAACTCCACAATCTCTCGCTGCTACAACCCTCTGGGGGTCTCACAGGGCAGGATTCAGAGCAGTTCCAGTCTGGCCTCAGAGTGGTTTC... | pathogenic | 39,024 |
Variant in DYSF (dysferlin), chromosome 2, position 71665246—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2B', 'Miyoshi_muscular_dystrophy_1'] | ATCCGGGTACTCTCTGGACCACGGATGTTGAAAGCCGACTTATTTTCCTGTGGGTGCTTTCCAGAGGTTCCTCAGAGAGCCCCCCGTGAGCCCTCCCACTGCACTTTCTGGGATATGGCAGATGCTGCGTCCCTTTAGCTGCTGTCCCCAGCCCCTGGTTCTCAGATGGTCAACTCCACAATCTCTCGCTGCTACAACCCTCTGGGGGTCTCACAGGGCAGGATTCAGAGCAGTTCCAGTCTGGCCTCAGAGTGGTTTCTTCTCCTCCCAGGAAGTCCTTGTGTTCCTTGCCCAGGCATGGGCCAGAGTGCAGCTCCTCC... | ATCCGGGTACTCTCTGGACCACGGATGTTGAAAGCCGACTTATTTTCCTGTGGGTGCTTTCCAGAGGTTCCTCAGAGAGCCCCCCGTGAGCCCTCCCACTGCACTTTCTGGGATATGGCAGATGCTGCGTCCCTTTAGCTGCTGTCCCCAGCCCCTGGTTCTCAGATGGTCAACTCCACAATCTCTCGCTGCTACAACCCTCTGGGGGTCTCACAGGGCAGGATTCAGAGCAGTTCCAGTCTGGCCTCAGAGTGGTTTCTTCTCCTCCCAGGAAGTCCTTGTGTTCCTTGCCCAGGCATGGGCCAGAGTGCAGCTCCTCC... | pathogenic | 39,026 |
Clinically, how would you classify the variant at chromosome 2, position 71665262, gene DYSF (dysferlin): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy'] | GACCACGGATGTTGAAAGCCGACTTATTTTCCTGTGGGTGCTTTCCAGAGGTTCCTCAGAGAGCCCCCCGTGAGCCCTCCCACTGCACTTTCTGGGATATGGCAGATGCTGCGTCCCTTTAGCTGCTGTCCCCAGCCCCTGGTTCTCAGATGGTCAACTCCACAATCTCTCGCTGCTACAACCCTCTGGGGGTCTCACAGGGCAGGATTCAGAGCAGTTCCAGTCTGGCCTCAGAGTGGTTTCTTCTCCTCCCAGGAAGTCCTTGTGTTCCTTGCCCAGGCATGGGCCAGAGTGCAGCTCCTCCCAAATGTGGCCCCTGC... | GACCACGGATGTTGAAAGCCGACTTATTTTCCTGTGGGTGCTTTCCAGAGGTTCCTCAGAGAGCCCCCCGTGAGCCCTCCCACTGCACTTTCTGGGATATGGCAGATGCTGCGTCCCTTTAGCTGCTGTCCCCAGCCCCTGGTTCTCAGATGGTCAACTCCACAATCTCTCGCTGCTACAACCCTCTGGGGGTCTCACAGGGCAGGATTCAGAGCAGTTCCAGTCTGGCCTCAGAGTGGTTTCTTCTCCTCCCAGGAAGTCCTTGTGTTCCTTGCCCAGGCATGGGCCAGAGTGCAGCTCCTCCCAAATGTGGCCCCTGC... | pathogenic | 39,027 |
Determine if the mutation at chromosome 2, position 71665283 in gene DYSF (dysferlin) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy', 'Qualitative_or_quantitative_defects_of_dysferlin'] | ACTTATTTTCCTGTGGGTGCTTTCCAGAGGTTCCTCAGAGAGCCCCCCGTGAGCCCTCCCACTGCACTTTCTGGGATATGGCAGATGCTGCGTCCCTTTAGCTGCTGTCCCCAGCCCCTGGTTCTCAGATGGTCAACTCCACAATCTCTCGCTGCTACAACCCTCTGGGGGTCTCACAGGGCAGGATTCAGAGCAGTTCCAGTCTGGCCTCAGAGTGGTTTCTTCTCCTCCCAGGAAGTCCTTGTGTTCCTTGCCCAGGCATGGGCCAGAGTGCAGCTCCTCCCAAATGTGGCCCCTGCCCTCCTTCTCCATGCCACAAG... | ACTTATTTTCCTGTGGGTGCTTTCCAGAGGTTCCTCAGAGAGCCCCCCGTGAGCCCTCCCACTGCACTTTCTGGGATATGGCAGATGCTGCGTCCCTTTAGCTGCTGTCCCCAGCCCCTGGTTCTCAGATGGTCAACTCCACAATCTCTCGCTGCTACAACCCTCTGGGGGTCTCACAGGGCAGGATTCAGAGCAGTTCCAGTCTGGCCTCAGAGTGGTTTCTTCTCCTCCCAGGAAGTCCTTGTGTTCCTTGCCCAGGCATGGGCCAGAGTGCAGCTCCTCCCAAATGTGGCCCCTGCCCTCCTTCTCCATGCCACAAG... | pathogenic | 39,028 |
Is the genetic variant on chromosome 2, position 71667490, gene DYSF (dysferlin), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy', 'Distal_myopathy_with_anterior_tibial_onset', 'Qualitative_or_quantitative_defects_of_dysferlin'] | AGATGGGCTCCACTTGCACTTGGTACTTTGAGGATCAGTACTGACCTGTGATGCCACTGTGAAAATTAGAGGTCAGGGCACAGCCAGGGTCAGAGTGCAGTCCAAGGCCAGGTTGGGGCCCATCCGAGGGCAAGATCAGAGGTGAGTCTGAAGCCAGTGTCAGGGTCAGAGTTAGGCTCAGTCTCTTTCTGGCATTGGCTGGTCTGACTCTGGTTGGAGTTTGGGGTACAGTCCACTTCTCAGAAACAGTTTTCTACTTGAATTGCACCAGCCTGGCAGCTTGACCCTGATGGTATCTTCCAAGCTCCCCACTGACAGCC... | AGATGGGCTCCACTTGCACTTGGTACTTTGAGGATCAGTACTGACCTGTGATGCCACTGTGAAAATTAGAGGTCAGGGCACAGCCAGGGTCAGAGTGCAGTCCAAGGCCAGGTTGGGGCCCATCCGAGGGCAAGATCAGAGGTGAGTCTGAAGCCAGTGTCAGGGTCAGAGTTAGGCTCAGTCTCTTTCTGGCATTGGCTGGTCTGACTCTGGTTGGAGTTTGGGGTACAGTCCACTTCTCAGAAACAGTTTTCTACTTGAATTGCACCAGCCTGGCAGCTTGACCCTGATGGTATCTTCCAAGCTCCCCACTGACAGCC... | pathogenic | 39,037 |
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