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 |
|---|---|---|---|---|---|
For chromosome 15, position 40413013, gene IVD (isovaleryl-CoA dehydrogenase): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Isovaleryl-CoA_dehydrogenase_deficiency'] | ATAATAAAAATAGGACCAGAACTCTTGCATTGAACAACAGACAGACAACATTTGAAGAGAACTCTAAGAAATGGAAGAGTAGGACTAGCTTCCTTTGCAAAGGGAATGGAAAAAGGAGAGGCATTTTCAGCCTTGTAGCCATTGGGCTTAGAAGAGACTTCTAGGACTTTACCGACACCCTGGTCTGAGAGCGAAGTTTGAAGGGGTTTAATGTGGACAGGAAGAGGCAGTACCAGTGAGCTGCTCTAGGGTACTCTGAGGTTGTAACAAGGCCTGTTGGGGGTTTTCCTTGCAGCTGATCAGTGGTGAGTACATCGGAG... | ATAATAAAAATAGGACCAGAACTCTTGCATTGAACAACAGACAGACAACATTTGAAGAGAACTCTAAGAAATGGAAGAGTAGGACTAGCTTCCTTTGCAAAGGGAATGGAAAAAGGAGAGGCATTTTCAGCCTTGTAGCCATTGGGCTTAGAAGAGACTTCTAGGACTTTACCGACACCCTGGTCTGAGAGCGAAGTTTGAAGGGGTTTAATGTGGACAGGAAGAGGCAGTACCAGTGAGCTGCTCTAGGGTACTCTGAGGTTGTAACAAGGCCTGTTGGGGGTTTTCCTTGCAGCTGATCAGTGGTGAGTACATCGGAG... | pathogenic | 230,215 |
Located at chromosome 15 position 40413046, the variant affecting gene IVD (isovaleryl-CoA dehydrogenase)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Isovaleryl-CoA_dehydrogenase_deficiency'] | ACAACAGACAGACAACATTTGAAGAGAACTCTAAGAAATGGAAGAGTAGGACTAGCTTCCTTTGCAAAGGGAATGGAAAAAGGAGAGGCATTTTCAGCCTTGTAGCCATTGGGCTTAGAAGAGACTTCTAGGACTTTACCGACACCCTGGTCTGAGAGCGAAGTTTGAAGGGGTTTAATGTGGACAGGAAGAGGCAGTACCAGTGAGCTGCTCTAGGGTACTCTGAGGTTGTAACAAGGCCTGTTGGGGGTTTTCCTTGCAGCTGATCAGTGGTGAGTACATCGGAGCCCTGGCCATGAGTGAGCCCAATGCAGGCTCTG... | ACAACAGACAGACAACATTTGAAGAGAACTCTAAGAAATGGAAGAGTAGGACTAGCTTCCTTTGCAAAGGGAATGGAAAAAGGAGAGGCATTTTCAGCCTTGTAGCCATTGGGCTTAGAAGAGACTTCTAGGACTTTACCGACACCCTGGTCTGAGAGCGAAGTTTGAAGGGGTTTAATGTGGACAGGAAGAGGCAGTACCAGTGAGCTGCTCTAGGGTACTCTGAGGTTGTAACAAGGCCTGTTGGGGGTTTTCCTTGCAGCTGATCAGTGGTGAGTACATCGGAGCCCTGGCCATGAGTGAGCCCAATGCAGGCTCTG... | pathogenic | 230,217 |
Variant on chromosome 15, at position 40414968, affecting IVD (isovaleryl-CoA dehydrogenase): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Isovaleryl-CoA_dehydrogenase_deficiency'] | AGAGGCCTTTCCTTTACCAGGCCCCCTTGGGGCTAATCTGTAACCAGGACCACCTTTTGTTTCCTGTAAAGGGTATGCCTGGCTTTAGCACCTCTAAGAAGCTGGACAAGCTGGGGATGAGGGGCTCTAACACCTGTGAGCTAATCTTTGAAGACTGCAAGATTCCTGGTAAGTAGCACCGGGAATCGGGGAGCCCCTCTCCTGACCCCCTTCCAGGCTGATCTGGCTGTTCTCAAGTTGAGAAAGCCTCTGGGTTAGAGAGGCTTGGCATTGTTAGCGCTTCAGTGACATGTGGCTAGGCTGTGAGCTGGGGCTGCTGG... | AGAGGCCTTTCCTTTACCAGGCCCCCTTGGGGCTAATCTGTAACCAGGACCACCTTTTGTTTCCTGTAAAGGGTATGCCTGGCTTTAGCACCTCTAAGAAGCTGGACAAGCTGGGGATGAGGGGCTCTAACACCTGTGAGCTAATCTTTGAAGACTGCAAGATTCCTGGTAAGTAGCACCGGGAATCGGGGAGCCCCTCTCCTGACCCCCTTCCAGGCTGATCTGGCTGTTCTCAAGTTGAGAAAGCCTCTGGGTTAGAGAGGCTTGGCATTGTTAGCGCTTCAGTGACATGTGGCTAGGCTGTGAGCTGGGGCTGCTGG... | pathogenic | 230,222 |
Clinical significance of chromosome 15, position 40416089, gene IVD (isovaleryl-CoA dehydrogenase): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Isovaleryl-CoA_dehydrogenase_deficiency'] | GACAGATGGGGTTTCACCATGTTGGCCAGGCTGCTCTCGAACTCCTGACCTCAGGTGATCCACCTGTCTCAGCCTCCCAAAGTGCCAGGATTATAGGCCTGAGCCACCTTGCCTGGCCAGGGGCATGGATTTGATCAACAGTTAGGTTTGCTGTCTGCCTCAGCCATATACCACGCCTATCACTGACAGCCCAAAAAAGTGTACTTTAATTACAGGGAGCATCCAGGGAGGGGGAGCTGTGCAGCTCCTTCTTTGTTGACAGGAAAAAATTCAGCTAGCATTAAAGGCAGGTCAGTAGTGTCAACCTGTTTTCCTGCCCA... | GACAGATGGGGTTTCACCATGTTGGCCAGGCTGCTCTCGAACTCCTGACCTCAGGTGATCCACCTGTCTCAGCCTCCCAAAGTGCCAGGATTATAGGCCTGAGCCACCTTGCCTGGCCAGGGGCATGGATTTGATCAACAGTTAGGTTTGCTGTCTGCCTCAGCCATATACCACGCCTATCACTGACAGCCCAAAAAAGTGTACTTTAATTACAGGGAGCATCCAGGGAGGGGGAGCTGTGCAGCTCCTTCTTTGTTGACAGGAAAAAATTCAGCTAGCATTAAAGGCAGGTCAGTAGTGTCAACCTGTTTTCCTGCCCA... | pathogenic | 230,232 |
Determine whether the variant at chromosome 15, position 40418167, in gene IVD (isovaleryl-CoA dehydrogenase) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Isovaleric_acidemia,_type_III', 'Isovaleryl-CoA_dehydrogenase_deficiency'] | GGCGTGTCGGCAGTATGTCTACAATGTCGCCAAGGCCTGCGATGAGGGCCATTGCACTGCTAAGGTGAGGGCCAGCCTCAGTCGGGGAGAGGCGGGGGCAGTGGACCAGCTGCTGAGACTTGCTGTCTGCGTGCCTCGCAGGGCCCTGCTGACCCCAGCTTCCTCCCGTAGGACTGTGCAGGTGTGATTCTTTACTCAGCTGAGTGTGCCACACAGGTAGCCCTGGACGGCATTCAGTGTTTTGGTGAGTGATCCCCACTTCCCAGTCCCGGGGCTCCCTCACTCCTGGGGCCTGTGGCTGCTTCAGAAAGCAGTTTCAG... | GGCGTGTCGGCAGTATGTCTACAATGTCGCCAAGGCCTGCGATGAGGGCCATTGCACTGCTAAGGTGAGGGCCAGCCTCAGTCGGGGAGAGGCGGGGGCAGTGGACCAGCTGCTGAGACTTGCTGTCTGCGTGCCTCGCAGGGCCCTGCTGACCCCAGCTTCCTCCCGTAGGACTGTGCAGGTGTGATTCTTTACTCAGCTGAGTGTGCCACACAGGTAGCCCTGGACGGCATTCAGTGTTTTGGTGAGTGATCCCCACTTCCCAGTCCCGGGGCTCCCTCACTCCTGGGGCCTGTGGCTGCTTCAGAAAGCAGTTTCAG... | pathogenic | 230,252 |
Gene mutation in IVD (isovaleryl-CoA dehydrogenase) at chromosome 15, position 40418218—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Isovaleryl-CoA_dehydrogenase_deficiency'] | TTGCACTGCTAAGGTGAGGGCCAGCCTCAGTCGGGGAGAGGCGGGGGCAGTGGACCAGCTGCTGAGACTTGCTGTCTGCGTGCCTCGCAGGGCCCTGCTGACCCCAGCTTCCTCCCGTAGGACTGTGCAGGTGTGATTCTTTACTCAGCTGAGTGTGCCACACAGGTAGCCCTGGACGGCATTCAGTGTTTTGGTGAGTGATCCCCACTTCCCAGTCCCGGGGCTCCCTCACTCCTGGGGCCTGTGGCTGCTTCAGAAAGCAGTTTCAGGGCGGGCGTGGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCCGAGG... | TTGCACTGCTAAGGTGAGGGCCAGCCTCAGTCGGGGAGAGGCGGGGGCAGTGGACCAGCTGCTGAGACTTGCTGTCTGCGTGCCTCGCAGGGCCCTGCTGACCCCAGCTTCCTCCCGTAGGACTGTGCAGGTGTGATTCTTTACTCAGCTGAGTGTGCCACACAGGTAGCCCTGGACGGCATTCAGTGTTTTGGTGAGTGATCCCCACTTCCCAGTCCCGGGGCTCCCTCACTCCTGGGGCCTGTGGCTGCTTCAGAAAGCAGTTTCAGGGCGGGCGTGGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCCGAGG... | pathogenic | 230,257 |
Is the variant located on chromosome 15 at position 40471365, gene CHST14, benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Ehlers-Danlos_syndrome,_musculocontractural_type'] | AGAAAACTACCCTGTAACACAGAAGGGAGCACATGTGGCCACATTATCAAAAGATTTTTAAAGGTCTAAGGCCTTTTTTTCCTCTCCTGGTTTAAAGGACATACTTACTGGAAAATATGATTTTAATAGAAAATCCTATCACCAGAAATGTATACCTTTAGGATTATTGGAAGCAAGGAGCAGTGTAGACAAGGCAGAACCTTCACGCAAACTTCTGGTGCAGCAAATGGACAGGTGGTAGCCTGCAGATGCACTGGGGCAATCAGATGTGGAGAGCCTGCCCTGGAGAGCTGGAAGGCTGCAAGGCTTTACCGTTCCTT... | AGAAAACTACCCTGTAACACAGAAGGGAGCACATGTGGCCACATTATCAAAAGATTTTTAAAGGTCTAAGGCCTTTTTTTCCTCTCCTGGTTTAAAGGACATACTTACTGGAAAATATGATTTTAATAGAAAATCCTATCACCAGAAATGTATACCTTTAGGATTATTGGAAGCAAGGAGCAGTGTAGACAAGGCAGAACCTTCACGCAAACTTCTGGTGCAGCAAATGGACAGGTGGTAGCCTGCAGATGCACTGGGGCAATCAGATGTGGAGAGCCTGCCCTGGAGAGCTGGAAGGCTGCAAGGCTTTACCGTTCCTT... | pathogenic | 230,281 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 15, position 40471383, gene CHST14. What disease(s) is it linked to if pathogenic? | pathogenic; ['Ehlers-Danlos_syndrome,_musculocontractural_type'] | ACAGAAGGGAGCACATGTGGCCACATTATCAAAAGATTTTTAAAGGTCTAAGGCCTTTTTTTCCTCTCCTGGTTTAAAGGACATACTTACTGGAAAATATGATTTTAATAGAAAATCCTATCACCAGAAATGTATACCTTTAGGATTATTGGAAGCAAGGAGCAGTGTAGACAAGGCAGAACCTTCACGCAAACTTCTGGTGCAGCAAATGGACAGGTGGTAGCCTGCAGATGCACTGGGGCAATCAGATGTGGAGAGCCTGCCCTGGAGAGCTGGAAGGCTGCAAGGCTTTACCGTTCCTTCCCCTGGCTCATCTGTGT... | ACAGAAGGGAGCACATGTGGCCACATTATCAAAAGATTTTTAAAGGTCTAAGGCCTTTTTTTCCTCTCCTGGTTTAAAGGACATACTTACTGGAAAATATGATTTTAATAGAAAATCCTATCACCAGAAATGTATACCTTTAGGATTATTGGAAGCAAGGAGCAGTGTAGACAAGGCAGAACCTTCACGCAAACTTCTGGTGCAGCAAATGGACAGGTGGTAGCCTGCAGATGCACTGGGGCAATCAGATGTGGAGAGCCTGCCCTGGAGAGCTGGAAGGCTGCAAGGCTTTACCGTTCCTTCCCCTGGCTCATCTGTGT... | pathogenic | 230,282 |
Variant at chromosome position 40471740, chromosome 15, gene CHST14 (carbohydrate sulfotransferase 14): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Ehlers-Danlos_syndrome,_musculocontractural_type'] | GCCCTCTAGTATCACCTCATCCCTCAAGTCCCCTCACCCTTCTGAATTCATCTGATCACTGGTAGCTCCATTCTCCCACTGGTATCTTCTATTTTCCATCACCTGCTCTGTACAGTCCGCCCTCGAGTCAGCTGCTTCCTCCCTTCTAGCCATTCCATGATATGCTCCTTTAATCTCTGAAGGGCCGTGATTAGAAATTTAGGTTTTAGACTCAGAACCACCCATACTGAGTCACATCTTCCCTGAGCCTCTGTTACTTCAGCTGTACAAAGGGAATGTCCACACTAGCTCCCTGCCAGGGTGGCTGTAACAACTAAAGG... | GCCCTCTAGTATCACCTCATCCCTCAAGTCCCCTCACCCTTCTGAATTCATCTGATCACTGGTAGCTCCATTCTCCCACTGGTATCTTCTATTTTCCATCACCTGCTCTGTACAGTCCGCCCTCGAGTCAGCTGCTTCCTCCCTTCTAGCCATTCCATGATATGCTCCTTTAATCTCTGAAGGGCCGTGATTAGAAATTTAGGTTTTAGACTCAGAACCACCCATACTGAGTCACATCTTCCCTGAGCCTCTGTTACTTCAGCTGTACAAAGGGAATGTCCACACTAGCTCCCTGCCAGGGTGGCTGTAACAACTAAAGG... | pathogenic | 230,291 |
Variant chromosome 15, position 40615500, gene KNL1 (kinetochore scaffold 1): benign or pathogenic? Disease(s)? | benign | TAAAATTGTTGAAACGAAGAAATGGAAGTAATAGTAGTCATGGTTTAGAAAAGGTACAGAATCAACTCCAACAGAACTTAAAGGAAAAATAATTTTTTAAATAAAAAGGTACAGAAGTATATACATTGAAAAGTAAAAATTATTCCCTCTTTCCCTCTTCTTTCTTTTTTGTGAGACGGGGTTTCGCTCTTGTTGGCCAGACTGGAGTATAATGGCATGATCTTGGCTCACTGCAACCTCAGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGACTACAGGTGTGCACCACTACACCTGGCT... | TAAAATTGTTGAAACGAAGAAATGGAAGTAATAGTAGTCATGGTTTAGAAAAGGTACAGAATCAACTCCAACAGAACTTAAAGGAAAAATAATTTTTTAAATAAAAAGGTACAGAAGTATATACATTGAAAAGTAAAAATTATTCCCTCTTTCCCTCTTCTTTCTTTTTTGTGAGACGGGGTTTCGCTCTTGTTGGCCAGACTGGAGTATAATGGCATGATCTTGGCTCACTGCAACCTCAGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGACTACAGGTGTGCACCACTACACCTGGCT... | benign | 230,323 |
Is the chromosome 15, position 40650517 variant in KNL1 (kinetochore scaffold 1) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | benign | CAAAAACTTGTTCTCTCTTATGATGTTTCTCATCTTTATGTATAGCAGTCACAATTCTTATACATTGTAAAAGCTCAATACTTTCATTGTCTTTGAGGCTCTCTTAACAAGTCCTGTCATCGGCAGCTTCAGCATCTCATGTGTTTATTTTCCTTTCCTATTAAGGCTCACCTTAATTCTGAACTGTGCTATTTCAGTCTTCTAACTAATCTTTATACATTCTTACCATTATTCCACCTTCTTCCATTCCAACCTGCACATTGCTGCCAGATTAATAATTATGAAAGACAGTTTTCATTAATGTTACTCCTCTGAAAAAC... | CAAAAACTTGTTCTCTCTTATGATGTTTCTCATCTTTATGTATAGCAGTCACAATTCTTATACATTGTAAAAGCTCAATACTTTCATTGTCTTTGAGGCTCTCTTAACAAGTCCTGTCATCGGCAGCTTCAGCATCTCATGTGTTTATTTTCCTTTCCTATTAAGGCTCACCTTAATTCTGAACTGTGCTATTTCAGTCTTCTAACTAATCTTTATACATTCTTACCATTATTCCACCTTCTTCCATTCCAACCTGCACATTGCTGCCAGATTAATAATTATGAAAGACAGTTTTCATTAATGTTACTCCTCTGAAAAAC... | benign | 230,353 |
A genetic variant at chromosome 15, position 41815353, affecting gene MAPKBP1 (mitogen-activated protein kinase binding protein 1)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['MAPKBP1-related_disorder', 'Nephronophthisis_20'] | TCCCCTGCTTTCCTCTTCCGCTCAGAACATAGACAGCTTCACAGTAAGTGGTGCCTGCACCTTCCTCTCTTTCTCATGCTATTTCTTTCTCTTCACTGGGCTTTTCCTACTGGATCCTCTGGTGCCTAGAAGAATCCTCGGTTCCTAATCCCTGGCTGGACAGGGCTGAGGGGCTCAGAACAGGGCAGCTGGGCGGCTTTTCCCTTGCCCCTGCCTTGGCCGGTCCCTCCTCTTGGCAGGTGGCTGTTGATGGGTGGGGAGGAGAGAAGACTGAGTGGGCAGGTGGCCTTGCTGAGCTGAGCCACTCTGCCCACAGACCA... | TCCCCTGCTTTCCTCTTCCGCTCAGAACATAGACAGCTTCACAGTAAGTGGTGCCTGCACCTTCCTCTCTTTCTCATGCTATTTCTTTCTCTTCACTGGGCTTTTCCTACTGGATCCTCTGGTGCCTAGAAGAATCCTCGGTTCCTAATCCCTGGCTGGACAGGGCTGAGGGGCTCAGAACAGGGCAGCTGGGCGGCTTTTCCCTTGCCCCTGCCTTGGCCGGTCCCTCCTCTTGGCAGGTGGCTGTTGATGGGTGGGGAGGAGAGAAGACTGAGTGGGCAGGTGGCCTTGCTGAGCTGAGCCACTCTGCCCACAGACCA... | pathogenic | 230,488 |
A genetic variant on chromosome 15, position 42359860, affects the gene CAPN3 (calpain 3). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2A', 'Muscular_dystrophy,_limb-girdle,_autosomal_dominant_4'] | TGAGACAGAAAGGAAGAAATAACTCACCTAAAGTTACACAGGCACAGCCAATAAGGGGCCAACCTAGACTTTGAACCGAGGTGGTCAGTCACCAGAGACCACTGTCCTCTATTCTGCCTCTCCAAGACTAGTAAAAAGCCCTGGGCATTTTCTTGGAGGGACAGATGGCTAGGCTGATGGTTCCTGCAAGCCCAGACATAGAGTCCTTCAAAGCCGCAATCCCAGGGATCAGGAGGCTGATAGTACTCCCTATTTTACCTGTCACTTCCCACCTTCTTCCATAGCCTCTAATCTTGGATTATTGAGACTGGTCGCATGGG... | TGAGACAGAAAGGAAGAAATAACTCACCTAAAGTTACACAGGCACAGCCAATAAGGGGCCAACCTAGACTTTGAACCGAGGTGGTCAGTCACCAGAGACCACTGTCCTCTATTCTGCCTCTCCAAGACTAGTAAAAAGCCCTGGGCATTTTCTTGGAGGGACAGATGGCTAGGCTGATGGTTCCTGCAAGCCCAGACATAGAGTCCTTCAAAGCCGCAATCCCAGGGATCAGGAGGCTGATAGTACTCCCTATTTTACCTGTCACTTCCCACCTTCTTCCATAGCCTCTAATCTTGGATTATTGAGACTGGTCGCATGGG... | pathogenic | 230,562 |
Chromosome 15, position 42359864, gene CAPN3 (calpain 3): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2A', 'Muscular_dystrophy,_limb-girdle,_autosomal_dominant_4'] | ACAGAAAGGAAGAAATAACTCACCTAAAGTTACACAGGCACAGCCAATAAGGGGCCAACCTAGACTTTGAACCGAGGTGGTCAGTCACCAGAGACCACTGTCCTCTATTCTGCCTCTCCAAGACTAGTAAAAAGCCCTGGGCATTTTCTTGGAGGGACAGATGGCTAGGCTGATGGTTCCTGCAAGCCCAGACATAGAGTCCTTCAAAGCCGCAATCCCAGGGATCAGGAGGCTGATAGTACTCCCTATTTTACCTGTCACTTCCCACCTTCTTCCATAGCCTCTAATCTTGGATTATTGAGACTGGTCGCATGGGAACA... | ACAGAAAGGAAGAAATAACTCACCTAAAGTTACACAGGCACAGCCAATAAGGGGCCAACCTAGACTTTGAACCGAGGTGGTCAGTCACCAGAGACCACTGTCCTCTATTCTGCCTCTCCAAGACTAGTAAAAAGCCCTGGGCATTTTCTTGGAGGGACAGATGGCTAGGCTGATGGTTCCTGCAAGCCCAGACATAGAGTCCTTCAAAGCCGCAATCCCAGGGATCAGGAGGCTGATAGTACTCCCTATTTTACCTGTCACTTCCCACCTTCTTCCATAGCCTCTAATCTTGGATTATTGAGACTGGTCGCATGGGAACA... | pathogenic | 230,563 |
Evaluate if the mutation on chromosome 15 at position 42359903 in CAPN3 (calpain 3) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2A', 'Muscular_dystrophy,_limb-girdle,_autosomal_dominant_4'] | ACAGCCAATAAGGGGCCAACCTAGACTTTGAACCGAGGTGGTCAGTCACCAGAGACCACTGTCCTCTATTCTGCCTCTCCAAGACTAGTAAAAAGCCCTGGGCATTTTCTTGGAGGGACAGATGGCTAGGCTGATGGTTCCTGCAAGCCCAGACATAGAGTCCTTCAAAGCCGCAATCCCAGGGATCAGGAGGCTGATAGTACTCCCTATTTTACCTGTCACTTCCCACCTTCTTCCATAGCCTCTAATCTTGGATTATTGAGACTGGTCGCATGGGAACAGGCATGACTGCAGCCTAGGACATGCCTCCACTCTGCCAT... | ACAGCCAATAAGGGGCCAACCTAGACTTTGAACCGAGGTGGTCAGTCACCAGAGACCACTGTCCTCTATTCTGCCTCTCCAAGACTAGTAAAAAGCCCTGGGCATTTTCTTGGAGGGACAGATGGCTAGGCTGATGGTTCCTGCAAGCCCAGACATAGAGTCCTTCAAAGCCGCAATCCCAGGGATCAGGAGGCTGATAGTACTCCCTATTTTACCTGTCACTTCCCACCTTCTTCCATAGCCTCTAATCTTGGATTATTGAGACTGGTCGCATGGGAACAGGCATGACTGCAGCCTAGGACATGCCTCCACTCTGCCAT... | pathogenic | 230,567 |
Assess the variant on chromosome 15, position 42359907, impacting CAPN3 (calpain 3): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2A', 'Muscular_dystrophy,_limb-girdle,_autosomal_dominant_4'] | CCAATAAGGGGCCAACCTAGACTTTGAACCGAGGTGGTCAGTCACCAGAGACCACTGTCCTCTATTCTGCCTCTCCAAGACTAGTAAAAAGCCCTGGGCATTTTCTTGGAGGGACAGATGGCTAGGCTGATGGTTCCTGCAAGCCCAGACATAGAGTCCTTCAAAGCCGCAATCCCAGGGATCAGGAGGCTGATAGTACTCCCTATTTTACCTGTCACTTCCCACCTTCTTCCATAGCCTCTAATCTTGGATTATTGAGACTGGTCGCATGGGAACAGGCATGACTGCAGCCTAGGACATGCCTCCACTCTGCCATACTT... | CCAATAAGGGGCCAACCTAGACTTTGAACCGAGGTGGTCAGTCACCAGAGACCACTGTCCTCTATTCTGCCTCTCCAAGACTAGTAAAAAGCCCTGGGCATTTTCTTGGAGGGACAGATGGCTAGGCTGATGGTTCCTGCAAGCCCAGACATAGAGTCCTTCAAAGCCGCAATCCCAGGGATCAGGAGGCTGATAGTACTCCCTATTTTACCTGTCACTTCCCACCTTCTTCCATAGCCTCTAATCTTGGATTATTGAGACTGGTCGCATGGGAACAGGCATGACTGCAGCCTAGGACATGCCTCCACTCTGCCATACTT... | pathogenic | 230,568 |
Considering the variant on chromosome 15, location 42360022, involving gene CAPN3 (calpain 3), 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', 'Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2A'] | AGATGGCTAGGCTGATGGTTCCTGCAAGCCCAGACATAGAGTCCTTCAAAGCCGCAATCCCAGGGATCAGGAGGCTGATAGTACTCCCTATTTTACCTGTCACTTCCCACCTTCTTCCATAGCCTCTAATCTTGGATTATTGAGACTGGTCGCATGGGAACAGGCATGACTGCAGCCTAGGACATGCCTCCACTCTGCCATACTTGAAATGTGCTCATCTCCTTACAGCCCAGGGAGCAGCTATTGTGGGTAGAAGACAAGGTGGAGGCCAGGCAGGCACTTCCCTTCCCCAGAGCCACTTATGCTCTCATCTAAGAGCC... | AGATGGCTAGGCTGATGGTTCCTGCAAGCCCAGACATAGAGTCCTTCAAAGCCGCAATCCCAGGGATCAGGAGGCTGATAGTACTCCCTATTTTACCTGTCACTTCCCACCTTCTTCCATAGCCTCTAATCTTGGATTATTGAGACTGGTCGCATGGGAACAGGCATGACTGCAGCCTAGGACATGCCTCCACTCTGCCATACTTGAAATGTGCTCATCTCCTTACAGCCCAGGGAGCAGCTATTGTGGGTAGAAGACAAGGTGGAGGCCAGGCAGGCACTTCCCTTCCCCAGAGCCACTTATGCTCTCATCTAAGAGCC... | pathogenic | 230,572 |
Evaluate if the mutation on chromosome 15 at position 42360025 in CAPN3 (calpain 3) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy', 'Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2A', 'Muscular_dystrophy,_limb-girdle,_autosomal_dominant_4'] | TGGCTAGGCTGATGGTTCCTGCAAGCCCAGACATAGAGTCCTTCAAAGCCGCAATCCCAGGGATCAGGAGGCTGATAGTACTCCCTATTTTACCTGTCACTTCCCACCTTCTTCCATAGCCTCTAATCTTGGATTATTGAGACTGGTCGCATGGGAACAGGCATGACTGCAGCCTAGGACATGCCTCCACTCTGCCATACTTGAAATGTGCTCATCTCCTTACAGCCCAGGGAGCAGCTATTGTGGGTAGAAGACAAGGTGGAGGCCAGGCAGGCACTTCCCTTCCCCAGAGCCACTTATGCTCTCATCTAAGAGCCCTG... | TGGCTAGGCTGATGGTTCCTGCAAGCCCAGACATAGAGTCCTTCAAAGCCGCAATCCCAGGGATCAGGAGGCTGATAGTACTCCCTATTTTACCTGTCACTTCCCACCTTCTTCCATAGCCTCTAATCTTGGATTATTGAGACTGGTCGCATGGGAACAGGCATGACTGCAGCCTAGGACATGCCTCCACTCTGCCATACTTGAAATGTGCTCATCTCCTTACAGCCCAGGGAGCAGCTATTGTGGGTAGAAGACAAGGTGGAGGCCAGGCAGGCACTTCCCTTCCCCAGAGCCACTTATGCTCTCATCTAAGAGCCCTG... | pathogenic | 230,573 |
Variant on chromosome 15, at position 42360041, affecting CAPN3 (calpain 3): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2A'] | TCCTGCAAGCCCAGACATAGAGTCCTTCAAAGCCGCAATCCCAGGGATCAGGAGGCTGATAGTACTCCCTATTTTACCTGTCACTTCCCACCTTCTTCCATAGCCTCTAATCTTGGATTATTGAGACTGGTCGCATGGGAACAGGCATGACTGCAGCCTAGGACATGCCTCCACTCTGCCATACTTGAAATGTGCTCATCTCCTTACAGCCCAGGGAGCAGCTATTGTGGGTAGAAGACAAGGTGGAGGCCAGGCAGGCACTTCCCTTCCCCAGAGCCACTTATGCTCTCATCTAAGAGCCCTGAAACCAGGTGTGACAT... | TCCTGCAAGCCCAGACATAGAGTCCTTCAAAGCCGCAATCCCAGGGATCAGGAGGCTGATAGTACTCCCTATTTTACCTGTCACTTCCCACCTTCTTCCATAGCCTCTAATCTTGGATTATTGAGACTGGTCGCATGGGAACAGGCATGACTGCAGCCTAGGACATGCCTCCACTCTGCCATACTTGAAATGTGCTCATCTCCTTACAGCCCAGGGAGCAGCTATTGTGGGTAGAAGACAAGGTGGAGGCCAGGCAGGCACTTCCCTTCCCCAGAGCCACTTATGCTCTCATCTAAGAGCCCTGAAACCAGGTGTGACAT... | pathogenic | 230,574 |
Does the variant impacting CAPN3 (calpain 3) on chromosome 15, position 42360062, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2A', 'Muscular_dystrophy,_limb-girdle,_autosomal_dominant_4'] | GTCCTTCAAAGCCGCAATCCCAGGGATCAGGAGGCTGATAGTACTCCCTATTTTACCTGTCACTTCCCACCTTCTTCCATAGCCTCTAATCTTGGATTATTGAGACTGGTCGCATGGGAACAGGCATGACTGCAGCCTAGGACATGCCTCCACTCTGCCATACTTGAAATGTGCTCATCTCCTTACAGCCCAGGGAGCAGCTATTGTGGGTAGAAGACAAGGTGGAGGCCAGGCAGGCACTTCCCTTCCCCAGAGCCACTTATGCTCTCATCTAAGAGCCCTGAAACCAGGTGTGACATCCCAGGAGTTGACAGACAGTC... | GTCCTTCAAAGCCGCAATCCCAGGGATCAGGAGGCTGATAGTACTCCCTATTTTACCTGTCACTTCCCACCTTCTTCCATAGCCTCTAATCTTGGATTATTGAGACTGGTCGCATGGGAACAGGCATGACTGCAGCCTAGGACATGCCTCCACTCTGCCATACTTGAAATGTGCTCATCTCCTTACAGCCCAGGGAGCAGCTATTGTGGGTAGAAGACAAGGTGGAGGCCAGGCAGGCACTTCCCTTCCCCAGAGCCACTTATGCTCTCATCTAAGAGCCCTGAAACCAGGTGTGACATCCCAGGAGTTGACAGACAGTC... | pathogenic | 230,578 |
Evaluate if the mutation on chromosome 15 at position 42384494 in CAPN3 (calpain 3) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2A'] | GCAATCTCTGCCTCCCAGGTTCAAGCGATTCTCTCACCTCAGCCTCCCAAGTAGCTGGGACTATAGGCATGCGCCACCATGTCCAACTAATCCTTTTAATCTTTGTAGAGACGGGGTCTCACTATGTTGCCCAGACTGGTCTCGAACTCCTGGCCTCAAATGATCCTCCCACCTTGGCCTCTCAAAGTGCTGGGATTACAGGTGTAGGCCACCACACCTGGACAATATTATTATTTCTTATGGTTCATATTTCTTAGTATCTTCATAACATTCAAGGTTCATATTTCTTTATGGTTTTGGTTTTTGTCCTTAGGATATAT... | GCAATCTCTGCCTCCCAGGTTCAAGCGATTCTCTCACCTCAGCCTCCCAAGTAGCTGGGACTATAGGCATGCGCCACCATGTCCAACTAATCCTTTTAATCTTTGTAGAGACGGGGTCTCACTATGTTGCCCAGACTGGTCTCGAACTCCTGGCCTCAAATGATCCTCCCACCTTGGCCTCTCAAAGTGCTGGGATTACAGGTGTAGGCCACCACACCTGGACAATATTATTATTTCTTATGGTTCATATTTCTTAGTATCTTCATAACATTCAAGGTTCATATTTCTTTATGGTTTTGGTTTTTGTCCTTAGGATATAT... | pathogenic | 230,587 |
Variant on chromosome 15, at position 42384497, affecting CAPN3 (calpain 3): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2A', 'Muscular_dystrophy,_limb-girdle,_autosomal_dominant_4'] | ATCTCTGCCTCCCAGGTTCAAGCGATTCTCTCACCTCAGCCTCCCAAGTAGCTGGGACTATAGGCATGCGCCACCATGTCCAACTAATCCTTTTAATCTTTGTAGAGACGGGGTCTCACTATGTTGCCCAGACTGGTCTCGAACTCCTGGCCTCAAATGATCCTCCCACCTTGGCCTCTCAAAGTGCTGGGATTACAGGTGTAGGCCACCACACCTGGACAATATTATTATTTCTTATGGTTCATATTTCTTAGTATCTTCATAACATTCAAGGTTCATATTTCTTTATGGTTTTGGTTTTTGTCCTTAGGATATATTCC... | ATCTCTGCCTCCCAGGTTCAAGCGATTCTCTCACCTCAGCCTCCCAAGTAGCTGGGACTATAGGCATGCGCCACCATGTCCAACTAATCCTTTTAATCTTTGTAGAGACGGGGTCTCACTATGTTGCCCAGACTGGTCTCGAACTCCTGGCCTCAAATGATCCTCCCACCTTGGCCTCTCAAAGTGCTGGGATTACAGGTGTAGGCCACCACACCTGGACAATATTATTATTTCTTATGGTTCATATTTCTTAGTATCTTCATAACATTCAAGGTTCATATTTCTTTATGGTTTTGGTTTTTGTCCTTAGGATATATTCC... | pathogenic | 230,588 |
Assess the variant on chromosome 15, position 42386155, impacting CAPN3: is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2A'] | GAACTCAATAAATAATAGCTACTGCGGCCGGGCGCGGTGGCTCACATCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACAAGGTCAAGAGATGGAGACCATCCTGGCCAACATGGTGAAACCGTATCTCTACTAAAGATACAAAAATTAGCTGGGCATGGTGGCGCATGCCTATAGTCCCAGCTACTCGAGAGGCTGAGGCAGGAGAATCACTTGAACCCCGGAGGCAGAGGTTTCAGTGAGCCAAGATTGCACCAGTGCACTGCAGCCTGGCGACAGAGTGAGACTCCGTCTCAAAAAAATACCTATCT... | GAACTCAATAAATAATAGCTACTGCGGCCGGGCGCGGTGGCTCACATCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACAAGGTCAAGAGATGGAGACCATCCTGGCCAACATGGTGAAACCGTATCTCTACTAAAGATACAAAAATTAGCTGGGCATGGTGGCGCATGCCTATAGTCCCAGCTACTCGAGAGGCTGAGGCAGGAGAATCACTTGAACCCCGGAGGCAGAGGTTTCAGTGAGCCAAGATTGCACCAGTGCACTGCAGCCTGGCGACAGAGTGAGACTCCGTCTCAAAAAAATACCTATCT... | pathogenic | 230,596 |
Variant in CAPN3, chromosome 15, position 42386165—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2A'] | AATAATAGCTACTGCGGCCGGGCGCGGTGGCTCACATCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACAAGGTCAAGAGATGGAGACCATCCTGGCCAACATGGTGAAACCGTATCTCTACTAAAGATACAAAAATTAGCTGGGCATGGTGGCGCATGCCTATAGTCCCAGCTACTCGAGAGGCTGAGGCAGGAGAATCACTTGAACCCCGGAGGCAGAGGTTTCAGTGAGCCAAGATTGCACCAGTGCACTGCAGCCTGGCGACAGAGTGAGACTCCGTCTCAAAAAAATACCTATCTATCTATCTGT... | AATAATAGCTACTGCGGCCGGGCGCGGTGGCTCACATCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACAAGGTCAAGAGATGGAGACCATCCTGGCCAACATGGTGAAACCGTATCTCTACTAAAGATACAAAAATTAGCTGGGCATGGTGGCGCATGCCTATAGTCCCAGCTACTCGAGAGGCTGAGGCAGGAGAATCACTTGAACCCCGGAGGCAGAGGTTTCAGTGAGCCAAGATTGCACCAGTGCACTGCAGCCTGGCGACAGAGTGAGACTCCGTCTCAAAAAAATACCTATCTATCTATCTGT... | pathogenic | 230,597 |
Assess the variant on chromosome 15, position 42386187, impacting CAPN3: is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2A'] | CGCGGTGGCTCACATCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACAAGGTCAAGAGATGGAGACCATCCTGGCCAACATGGTGAAACCGTATCTCTACTAAAGATACAAAAATTAGCTGGGCATGGTGGCGCATGCCTATAGTCCCAGCTACTCGAGAGGCTGAGGCAGGAGAATCACTTGAACCCCGGAGGCAGAGGTTTCAGTGAGCCAAGATTGCACCAGTGCACTGCAGCCTGGCGACAGAGTGAGACTCCGTCTCAAAAAAATACCTATCTATCTATCTGTCTATCTACTGTTATTCTTACCT... | CGCGGTGGCTCACATCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACAAGGTCAAGAGATGGAGACCATCCTGGCCAACATGGTGAAACCGTATCTCTACTAAAGATACAAAAATTAGCTGGGCATGGTGGCGCATGCCTATAGTCCCAGCTACTCGAGAGGCTGAGGCAGGAGAATCACTTGAACCCCGGAGGCAGAGGTTTCAGTGAGCCAAGATTGCACCAGTGCACTGCAGCCTGGCGACAGAGTGAGACTCCGTCTCAAAAAAATACCTATCTATCTATCTGTCTATCTACTGTTATTCTTACCT... | pathogenic | 230,598 |
Considering the variant on chromosome 15, location 42386219, involving gene CAPN3, 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_2A', 'Muscular_dystrophy,_limb-girdle,_autosomal_dominant_4'] | TGGGAGGCCGAGGCGGGTGGATCACAAGGTCAAGAGATGGAGACCATCCTGGCCAACATGGTGAAACCGTATCTCTACTAAAGATACAAAAATTAGCTGGGCATGGTGGCGCATGCCTATAGTCCCAGCTACTCGAGAGGCTGAGGCAGGAGAATCACTTGAACCCCGGAGGCAGAGGTTTCAGTGAGCCAAGATTGCACCAGTGCACTGCAGCCTGGCGACAGAGTGAGACTCCGTCTCAAAAAAATACCTATCTATCTATCTGTCTATCTACTGTTATTCTTACCTGGTCATTTCCTTTTTGTTTCACAGGAAATTTG... | TGGGAGGCCGAGGCGGGTGGATCACAAGGTCAAGAGATGGAGACCATCCTGGCCAACATGGTGAAACCGTATCTCTACTAAAGATACAAAAATTAGCTGGGCATGGTGGCGCATGCCTATAGTCCCAGCTACTCGAGAGGCTGAGGCAGGAGAATCACTTGAACCCCGGAGGCAGAGGTTTCAGTGAGCCAAGATTGCACCAGTGCACTGCAGCCTGGCGACAGAGTGAGACTCCGTCTCAAAAAAATACCTATCTATCTATCTGTCTATCTACTGTTATTCTTACCTGGTCATTTCCTTTTTGTTTCACAGGAAATTTG... | pathogenic | 230,599 |
A genetic variant at chromosome 15, position 42386267, affecting gene CAPN3—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2A', 'Muscular_dystrophy,_limb-girdle,_autosomal_dominant_4'] | CTGGCCAACATGGTGAAACCGTATCTCTACTAAAGATACAAAAATTAGCTGGGCATGGTGGCGCATGCCTATAGTCCCAGCTACTCGAGAGGCTGAGGCAGGAGAATCACTTGAACCCCGGAGGCAGAGGTTTCAGTGAGCCAAGATTGCACCAGTGCACTGCAGCCTGGCGACAGAGTGAGACTCCGTCTCAAAAAAATACCTATCTATCTATCTGTCTATCTACTGTTATTCTTACCTGGTCATTTCCTTTTTGTTTCACAGGAAATTTGCGAGAATCCCCGATTTATCATTGATGGAGCCAACAGAACTGACATCTG... | CTGGCCAACATGGTGAAACCGTATCTCTACTAAAGATACAAAAATTAGCTGGGCATGGTGGCGCATGCCTATAGTCCCAGCTACTCGAGAGGCTGAGGCAGGAGAATCACTTGAACCCCGGAGGCAGAGGTTTCAGTGAGCCAAGATTGCACCAGTGCACTGCAGCCTGGCGACAGAGTGAGACTCCGTCTCAAAAAAATACCTATCTATCTATCTGTCTATCTACTGTTATTCTTACCTGGTCATTTCCTTTTTGTTTCACAGGAAATTTGCGAGAATCCCCGATTTATCATTGATGGAGCCAACAGAACTGACATCTG... | pathogenic | 230,602 |
A genetic alteration at chromosome 15, position 42387802, in gene CAPN3 (calpain 3)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Absent_Achilles_reflex', 'Absent_muscle_fiber_calpain-3', 'Autosomal_recessive_limb-girdle_muscular_dystrophy', 'Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2A', 'CAPN3-related_disorder', 'Calf_muscle_hypertrophy', 'Cardiac_arrhythmia', 'Congenital_muscular_dystrophy', 'Difficulty_walking', 'E... | AGTCTTCGCTGAAGTCAGAAGAGGAATTGGACTCACATTGCAAAGGCACAGGGCAGGGCAGATTTCCTACAGGTGTTAGGAAGAACAACCCAGTTATGATCACCTACTGCTCTGTCTCCATTGAGGCCTAAAAAGGAAGTGAGTTTATACTGCAGTTGGAGGAACTGCCTGCAGCCTTGAGGAAAATGTCTAGTCACAAGGGAGTAAGTTACCTGTTGATCATATTGTCAAGGAATTCCTGTCCAATTCTCCTTCCCTGGGTTGACACCTCTGTAAGGTCAGATCTGGAAGTAGGAGAGTGGGCACCAAGGGAGTCCCCG... | AGTCTTCGCTGAAGTCAGAAGAGGAATTGGACTCACATTGCAAAGGCACAGGGCAGGGCAGATTTCCTACAGGTGTTAGGAAGAACAACCCAGTTATGATCACCTACTGCTCTGTCTCCATTGAGGCCTAAAAAGGAAGTGAGTTTATACTGCAGTTGGAGGAACTGCCTGCAGCCTTGAGGAAAATGTCTAGTCACAAGGGAGTAAGTTACCTGTTGATCATATTGTCAAGGAATTCCTGTCCAATTCTCCTTCCCTGGGTTGACACCTCTGTAAGGTCAGATCTGGAAGTAGGAGAGTGGGCACCAAGGGAGTCCCCG... | pathogenic | 230,612 |
Assess the variant on chromosome 15, position 42387815, impacting CAPN3 (calpain 3): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2A'] | GTCAGAAGAGGAATTGGACTCACATTGCAAAGGCACAGGGCAGGGCAGATTTCCTACAGGTGTTAGGAAGAACAACCCAGTTATGATCACCTACTGCTCTGTCTCCATTGAGGCCTAAAAAGGAAGTGAGTTTATACTGCAGTTGGAGGAACTGCCTGCAGCCTTGAGGAAAATGTCTAGTCACAAGGGAGTAAGTTACCTGTTGATCATATTGTCAAGGAATTCCTGTCCAATTCTCCTTCCCTGGGTTGACACCTCTGTAAGGTCAGATCTGGAAGTAGGAGAGTGGGCACCAAGGGAGTCCCCGTTCAGGGAAGTGG... | GTCAGAAGAGGAATTGGACTCACATTGCAAAGGCACAGGGCAGGGCAGATTTCCTACAGGTGTTAGGAAGAACAACCCAGTTATGATCACCTACTGCTCTGTCTCCATTGAGGCCTAAAAAGGAAGTGAGTTTATACTGCAGTTGGAGGAACTGCCTGCAGCCTTGAGGAAAATGTCTAGTCACAAGGGAGTAAGTTACCTGTTGATCATATTGTCAAGGAATTCCTGTCCAATTCTCCTTCCCTGGGTTGACACCTCTGTAAGGTCAGATCTGGAAGTAGGAGAGTGGGCACCAAGGGAGTCCCCGTTCAGGGAAGTGG... | pathogenic | 230,614 |
Evaluate the clinical significance of the mutation at chromosome 15, position 42387833 in gene CAPN3 (calpain 3): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2A', 'Muscular_dystrophy,_limb-girdle,_autosomal_dominant_4'] | CTCACATTGCAAAGGCACAGGGCAGGGCAGATTTCCTACAGGTGTTAGGAAGAACAACCCAGTTATGATCACCTACTGCTCTGTCTCCATTGAGGCCTAAAAAGGAAGTGAGTTTATACTGCAGTTGGAGGAACTGCCTGCAGCCTTGAGGAAAATGTCTAGTCACAAGGGAGTAAGTTACCTGTTGATCATATTGTCAAGGAATTCCTGTCCAATTCTCCTTCCCTGGGTTGACACCTCTGTAAGGTCAGATCTGGAAGTAGGAGAGTGGGCACCAAGGGAGTCCCCGTTCAGGGAAGTGGAGTGGCTGGCTGGGATTG... | CTCACATTGCAAAGGCACAGGGCAGGGCAGATTTCCTACAGGTGTTAGGAAGAACAACCCAGTTATGATCACCTACTGCTCTGTCTCCATTGAGGCCTAAAAAGGAAGTGAGTTTATACTGCAGTTGGAGGAACTGCCTGCAGCCTTGAGGAAAATGTCTAGTCACAAGGGAGTAAGTTACCTGTTGATCATATTGTCAAGGAATTCCTGTCCAATTCTCCTTCCCTGGGTTGACACCTCTGTAAGGTCAGATCTGGAAGTAGGAGAGTGGGCACCAAGGGAGTCCCCGTTCAGGGAAGTGGAGTGGCTGGCTGGGATTG... | pathogenic | 230,615 |
Clinically, how would you classify the variant at chromosome 15, position 42387850, gene CAPN3 (calpain 3): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy', 'Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2A', 'CAPN3-related_disorder', 'Muscular_dystrophy,_limb-girdle,_autosomal_dominant_4'] | CAGGGCAGGGCAGATTTCCTACAGGTGTTAGGAAGAACAACCCAGTTATGATCACCTACTGCTCTGTCTCCATTGAGGCCTAAAAAGGAAGTGAGTTTATACTGCAGTTGGAGGAACTGCCTGCAGCCTTGAGGAAAATGTCTAGTCACAAGGGAGTAAGTTACCTGTTGATCATATTGTCAAGGAATTCCTGTCCAATTCTCCTTCCCTGGGTTGACACCTCTGTAAGGTCAGATCTGGAAGTAGGAGAGTGGGCACCAAGGGAGTCCCCGTTCAGGGAAGTGGAGTGGCTGGCTGGGATTGGGGCTTTTTCTTCCCAG... | CAGGGCAGGGCAGATTTCCTACAGGTGTTAGGAAGAACAACCCAGTTATGATCACCTACTGCTCTGTCTCCATTGAGGCCTAAAAAGGAAGTGAGTTTATACTGCAGTTGGAGGAACTGCCTGCAGCCTTGAGGAAAATGTCTAGTCACAAGGGAGTAAGTTACCTGTTGATCATATTGTCAAGGAATTCCTGTCCAATTCTCCTTCCCTGGGTTGACACCTCTGTAAGGTCAGATCTGGAAGTAGGAGAGTGGGCACCAAGGGAGTCCCCGTTCAGGGAAGTGGAGTGGCTGGCTGGGATTGGGGCTTTTTCTTCCCAG... | pathogenic | 230,616 |
Clinically, how would you classify the variant at chromosome 15, position 42387868, gene CAPN3 (calpain 3): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2A', 'Muscular_dystrophy,_limb-girdle,_autosomal_dominant_4'] | CTACAGGTGTTAGGAAGAACAACCCAGTTATGATCACCTACTGCTCTGTCTCCATTGAGGCCTAAAAAGGAAGTGAGTTTATACTGCAGTTGGAGGAACTGCCTGCAGCCTTGAGGAAAATGTCTAGTCACAAGGGAGTAAGTTACCTGTTGATCATATTGTCAAGGAATTCCTGTCCAATTCTCCTTCCCTGGGTTGACACCTCTGTAAGGTCAGATCTGGAAGTAGGAGAGTGGGCACCAAGGGAGTCCCCGTTCAGGGAAGTGGAGTGGCTGGCTGGGATTGGGGCTTTTTCTTCCCAGGAGGAGCAGGAGTGCTCA... | CTACAGGTGTTAGGAAGAACAACCCAGTTATGATCACCTACTGCTCTGTCTCCATTGAGGCCTAAAAAGGAAGTGAGTTTATACTGCAGTTGGAGGAACTGCCTGCAGCCTTGAGGAAAATGTCTAGTCACAAGGGAGTAAGTTACCTGTTGATCATATTGTCAAGGAATTCCTGTCCAATTCTCCTTCCCTGGGTTGACACCTCTGTAAGGTCAGATCTGGAAGTAGGAGAGTGGGCACCAAGGGAGTCCCCGTTCAGGGAAGTGGAGTGGCTGGCTGGGATTGGGGCTTTTTCTTCCCAGGAGGAGCAGGAGTGCTCA... | pathogenic | 230,618 |
Is chromosome 15, position 42388934, gene CAPN3 (calpain 3) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy', 'Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2A', 'Muscular_dystrophy,_limb-girdle,_autosomal_dominant_4'] | GTGAGGGTCTCGTAGCTTCCGGGATGCTGGGGAGTCAGCCTGTCTCCAGCTTCAAAGGCTCCCTCATGTCCCAGGATGACCCACATTATCAGTTCTTGCTCCCCGGGTCTTGCACCTCAGCACGGAAGGCCTCAGAAAAGGTCTGTCTCCAGGCTCAGACTCCCCCTCCTGCCGCCTTGGGAACATGGCATATTTAAAGGGTCTCAGATCTAAAGGGCCTTACATACAAATATCAGATAGATTTCTGTTCTCATTTCAATGAGGGAGAAAGTGCCATTGAAAAGGAGACTAAACCACATTTGGCCCTTTTCAGTTCAAAC... | GTGAGGGTCTCGTAGCTTCCGGGATGCTGGGGAGTCAGCCTGTCTCCAGCTTCAAAGGCTCCCTCATGTCCCAGGATGACCCACATTATCAGTTCTTGCTCCCCGGGTCTTGCACCTCAGCACGGAAGGCCTCAGAAAAGGTCTGTCTCCAGGCTCAGACTCCCCCTCCTGCCGCCTTGGGAACATGGCATATTTAAAGGGTCTCAGATCTAAAGGGCCTTACATACAAATATCAGATAGATTTCTGTTCTCATTTCAATGAGGGAGAAAGTGCCATTGAAAAGGAGACTAAACCACATTTGGCCCTTTTCAGTTCAAAC... | pathogenic | 230,623 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 15, position 42389006, gene CAPN3 (calpain 3). What disease(s) is it linked to if pathogenic? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2A'] | AGGATGACCCACATTATCAGTTCTTGCTCCCCGGGTCTTGCACCTCAGCACGGAAGGCCTCAGAAAAGGTCTGTCTCCAGGCTCAGACTCCCCCTCCTGCCGCCTTGGGAACATGGCATATTTAAAGGGTCTCAGATCTAAAGGGCCTTACATACAAATATCAGATAGATTTCTGTTCTCATTTCAATGAGGGAGAAAGTGCCATTGAAAAGGAGACTAAACCACATTTGGCCCTTTTCAGTTCAAACTGATTCATTCAAAAAAGAGCGACATCCAAACTTGAAATGATTGAACAATGTTCCTGCTACAGCTAGAATAGA... | AGGATGACCCACATTATCAGTTCTTGCTCCCCGGGTCTTGCACCTCAGCACGGAAGGCCTCAGAAAAGGTCTGTCTCCAGGCTCAGACTCCCCCTCCTGCCGCCTTGGGAACATGGCATATTTAAAGGGTCTCAGATCTAAAGGGCCTTACATACAAATATCAGATAGATTTCTGTTCTCATTTCAATGAGGGAGAAAGTGCCATTGAAAAGGAGACTAAACCACATTTGGCCCTTTTCAGTTCAAACTGATTCATTCAAAAAAGAGCGACATCCAAACTTGAAATGATTGAACAATGTTCCTGCTACAGCTAGAATAGA... | pathogenic | 230,631 |
Evaluate if the mutation on chromosome 15 at position 42389006 in CAPN3 (calpain 3) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Abnormality_of_the_musculature', 'Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2A'] | AGGATGACCCACATTATCAGTTCTTGCTCCCCGGGTCTTGCACCTCAGCACGGAAGGCCTCAGAAAAGGTCTGTCTCCAGGCTCAGACTCCCCCTCCTGCCGCCTTGGGAACATGGCATATTTAAAGGGTCTCAGATCTAAAGGGCCTTACATACAAATATCAGATAGATTTCTGTTCTCATTTCAATGAGGGAGAAAGTGCCATTGAAAAGGAGACTAAACCACATTTGGCCCTTTTCAGTTCAAACTGATTCATTCAAAAAAGAGCGACATCCAAACTTGAAATGATTGAACAATGTTCCTGCTACAGCTAGAATAGA... | AGGATGACCCACATTATCAGTTCTTGCTCCCCGGGTCTTGCACCTCAGCACGGAAGGCCTCAGAAAAGGTCTGTCTCCAGGCTCAGACTCCCCCTCCTGCCGCCTTGGGAACATGGCATATTTAAAGGGTCTCAGATCTAAAGGGCCTTACATACAAATATCAGATAGATTTCTGTTCTCATTTCAATGAGGGAGAAAGTGCCATTGAAAAGGAGACTAAACCACATTTGGCCCTTTTCAGTTCAAACTGATTCATTCAAAAAAGAGCGACATCCAAACTTGAAATGATTGAACAATGTTCCTGCTACAGCTAGAATAGA... | pathogenic | 230,632 |
Variant at chromosome 15, position 42389022, gene CAPN3 (calpain 3): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2A', 'Muscular_dystrophy,_limb-girdle,_autosomal_dominant_4'] | TCAGTTCTTGCTCCCCGGGTCTTGCACCTCAGCACGGAAGGCCTCAGAAAAGGTCTGTCTCCAGGCTCAGACTCCCCCTCCTGCCGCCTTGGGAACATGGCATATTTAAAGGGTCTCAGATCTAAAGGGCCTTACATACAAATATCAGATAGATTTCTGTTCTCATTTCAATGAGGGAGAAAGTGCCATTGAAAAGGAGACTAAACCACATTTGGCCCTTTTCAGTTCAAACTGATTCATTCAAAAAAGAGCGACATCCAAACTTGAAATGATTGAACAATGTTCCTGCTACAGCTAGAATAGATTCTGGGTCACTTTGT... | TCAGTTCTTGCTCCCCGGGTCTTGCACCTCAGCACGGAAGGCCTCAGAAAAGGTCTGTCTCCAGGCTCAGACTCCCCCTCCTGCCGCCTTGGGAACATGGCATATTTAAAGGGTCTCAGATCTAAAGGGCCTTACATACAAATATCAGATAGATTTCTGTTCTCATTTCAATGAGGGAGAAAGTGCCATTGAAAAGGAGACTAAACCACATTTGGCCCTTTTCAGTTCAAACTGATTCATTCAAAAAAGAGCGACATCCAAACTTGAAATGATTGAACAATGTTCCTGCTACAGCTAGAATAGATTCTGGGTCACTTTGT... | pathogenic | 230,633 |
Considering the variant on chromosome 15, location 42389033, involving gene CAPN3 (calpain 3), 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_2A'] | TCCCCGGGTCTTGCACCTCAGCACGGAAGGCCTCAGAAAAGGTCTGTCTCCAGGCTCAGACTCCCCCTCCTGCCGCCTTGGGAACATGGCATATTTAAAGGGTCTCAGATCTAAAGGGCCTTACATACAAATATCAGATAGATTTCTGTTCTCATTTCAATGAGGGAGAAAGTGCCATTGAAAAGGAGACTAAACCACATTTGGCCCTTTTCAGTTCAAACTGATTCATTCAAAAAAGAGCGACATCCAAACTTGAAATGATTGAACAATGTTCCTGCTACAGCTAGAATAGATTCTGGGTCACTTTGTTCCTCCGTTTC... | TCCCCGGGTCTTGCACCTCAGCACGGAAGGCCTCAGAAAAGGTCTGTCTCCAGGCTCAGACTCCCCCTCCTGCCGCCTTGGGAACATGGCATATTTAAAGGGTCTCAGATCTAAAGGGCCTTACATACAAATATCAGATAGATTTCTGTTCTCATTTCAATGAGGGAGAAAGTGCCATTGAAAAGGAGACTAAACCACATTTGGCCCTTTTCAGTTCAAACTGATTCATTCAAAAAAGAGCGACATCCAAACTTGAAATGATTGAACAATGTTCCTGCTACAGCTAGAATAGATTCTGGGTCACTTTGTTCCTCCGTTTC... | pathogenic | 230,634 |
Variant in gene CAPN3 (calpain 3), located at chromosome 15 position 42389036: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2A'] | CCGGGTCTTGCACCTCAGCACGGAAGGCCTCAGAAAAGGTCTGTCTCCAGGCTCAGACTCCCCCTCCTGCCGCCTTGGGAACATGGCATATTTAAAGGGTCTCAGATCTAAAGGGCCTTACATACAAATATCAGATAGATTTCTGTTCTCATTTCAATGAGGGAGAAAGTGCCATTGAAAAGGAGACTAAACCACATTTGGCCCTTTTCAGTTCAAACTGATTCATTCAAAAAAGAGCGACATCCAAACTTGAAATGATTGAACAATGTTCCTGCTACAGCTAGAATAGATTCTGGGTCACTTTGTTCCTCCGTTTCAAT... | CCGGGTCTTGCACCTCAGCACGGAAGGCCTCAGAAAAGGTCTGTCTCCAGGCTCAGACTCCCCCTCCTGCCGCCTTGGGAACATGGCATATTTAAAGGGTCTCAGATCTAAAGGGCCTTACATACAAATATCAGATAGATTTCTGTTCTCATTTCAATGAGGGAGAAAGTGCCATTGAAAAGGAGACTAAACCACATTTGGCCCTTTTCAGTTCAAACTGATTCATTCAAAAAAGAGCGACATCCAAACTTGAAATGATTGAACAATGTTCCTGCTACAGCTAGAATAGATTCTGGGTCACTTTGTTCCTCCGTTTCAAT... | pathogenic | 230,635 |
The chromosome 15, position 42389050 genetic variant in gene CAPN3 (calpain 3): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy', 'Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2A', 'Muscular_dystrophy,_limb-girdle,_autosomal_dominant_4'] | TCAGCACGGAAGGCCTCAGAAAAGGTCTGTCTCCAGGCTCAGACTCCCCCTCCTGCCGCCTTGGGAACATGGCATATTTAAAGGGTCTCAGATCTAAAGGGCCTTACATACAAATATCAGATAGATTTCTGTTCTCATTTCAATGAGGGAGAAAGTGCCATTGAAAAGGAGACTAAACCACATTTGGCCCTTTTCAGTTCAAACTGATTCATTCAAAAAAGAGCGACATCCAAACTTGAAATGATTGAACAATGTTCCTGCTACAGCTAGAATAGATTCTGGGTCACTTTGTTCCTCCGTTTCAATCCTTGTTCTTCAGT... | TCAGCACGGAAGGCCTCAGAAAAGGTCTGTCTCCAGGCTCAGACTCCCCCTCCTGCCGCCTTGGGAACATGGCATATTTAAAGGGTCTCAGATCTAAAGGGCCTTACATACAAATATCAGATAGATTTCTGTTCTCATTTCAATGAGGGAGAAAGTGCCATTGAAAAGGAGACTAAACCACATTTGGCCCTTTTCAGTTCAAACTGATTCATTCAAAAAAGAGCGACATCCAAACTTGAAATGATTGAACAATGTTCCTGCTACAGCTAGAATAGATTCTGGGTCACTTTGTTCCTCCGTTTCAATCCTTGTTCTTCAGT... | pathogenic | 230,638 |
Considering the variant on chromosome 15, location 42389999, involving gene CAPN3 (calpain 3), 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_2A', 'Muscular_dystrophy,_limb-girdle,_autosomal_dominant_4'] | GAGACCTCACTCACAGGAAGAGGCATGTGCCTCTATACGTGCATATGTGTGGGCATGCAAGTCCAACTGTGACCCAAAGTTAGAGATCAGTTCCAGGCAACAACAGCTCTAACTAAAAACATTAAATTTAAGAGTAGAAATGAAGATTTGCATAGAAGACCTTTAGCTTTAGCTTACCATAGCGAGTTCTTTCATTGCACCTCCATGGTGGCATTGCAAGTCTTGGATCAGAGCATTGTATCTCTGGAGCTCAGATCCCAGGGTCTCGCTTGGCTCAACCTCATGTGCTTATAGCAGATTTATAAAGCCATGTTGTCTCT... | GAGACCTCACTCACAGGAAGAGGCATGTGCCTCTATACGTGCATATGTGTGGGCATGCAAGTCCAACTGTGACCCAAAGTTAGAGATCAGTTCCAGGCAACAACAGCTCTAACTAAAAACATTAAATTTAAGAGTAGAAATGAAGATTTGCATAGAAGACCTTTAGCTTTAGCTTACCATAGCGAGTTCTTTCATTGCACCTCCATGGTGGCATTGCAAGTCTTGGATCAGAGCATTGTATCTCTGGAGCTCAGATCCCAGGGTCTCGCTTGGCTCAACCTCATGTGCTTATAGCAGATTTATAAAGCCATGTTGTCTCT... | pathogenic | 230,645 |
Variant at chromosome 15, position 42390004, gene CAPN3 (calpain 3): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2A'] | CTCACTCACAGGAAGAGGCATGTGCCTCTATACGTGCATATGTGTGGGCATGCAAGTCCAACTGTGACCCAAAGTTAGAGATCAGTTCCAGGCAACAACAGCTCTAACTAAAAACATTAAATTTAAGAGTAGAAATGAAGATTTGCATAGAAGACCTTTAGCTTTAGCTTACCATAGCGAGTTCTTTCATTGCACCTCCATGGTGGCATTGCAAGTCTTGGATCAGAGCATTGTATCTCTGGAGCTCAGATCCCAGGGTCTCGCTTGGCTCAACCTCATGTGCTTATAGCAGATTTATAAAGCCATGTTGTCTCTCAACT... | CTCACTCACAGGAAGAGGCATGTGCCTCTATACGTGCATATGTGTGGGCATGCAAGTCCAACTGTGACCCAAAGTTAGAGATCAGTTCCAGGCAACAACAGCTCTAACTAAAAACATTAAATTTAAGAGTAGAAATGAAGATTTGCATAGAAGACCTTTAGCTTTAGCTTACCATAGCGAGTTCTTTCATTGCACCTCCATGGTGGCATTGCAAGTCTTGGATCAGAGCATTGTATCTCTGGAGCTCAGATCCCAGGGTCTCGCTTGGCTCAACCTCATGTGCTTATAGCAGATTTATAAAGCCATGTTGTCTCTCAACT... | pathogenic | 230,646 |
Evaluate the clinical significance of the mutation at chromosome 15, position 42390033 in gene CAPN3 (calpain 3): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2A', 'Muscular_dystrophy,_limb-girdle,_autosomal_dominant_4'] | ATACGTGCATATGTGTGGGCATGCAAGTCCAACTGTGACCCAAAGTTAGAGATCAGTTCCAGGCAACAACAGCTCTAACTAAAAACATTAAATTTAAGAGTAGAAATGAAGATTTGCATAGAAGACCTTTAGCTTTAGCTTACCATAGCGAGTTCTTTCATTGCACCTCCATGGTGGCATTGCAAGTCTTGGATCAGAGCATTGTATCTCTGGAGCTCAGATCCCAGGGTCTCGCTTGGCTCAACCTCATGTGCTTATAGCAGATTTATAAAGCCATGTTGTCTCTCAACTTAAAAGCTCCACCCCAGATGCTAATAATG... | ATACGTGCATATGTGTGGGCATGCAAGTCCAACTGTGACCCAAAGTTAGAGATCAGTTCCAGGCAACAACAGCTCTAACTAAAAACATTAAATTTAAGAGTAGAAATGAAGATTTGCATAGAAGACCTTTAGCTTTAGCTTACCATAGCGAGTTCTTTCATTGCACCTCCATGGTGGCATTGCAAGTCTTGGATCAGAGCATTGTATCTCTGGAGCTCAGATCCCAGGGTCTCGCTTGGCTCAACCTCATGTGCTTATAGCAGATTTATAAAGCCATGTTGTCTCTCAACTTAAAAGCTCCACCCCAGATGCTAATAATG... | pathogenic | 230,648 |
Regarding the variant at chromosome 15 and position 42390034, affecting gene CAPN3 (calpain 3): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2A', 'Muscular_dystrophy,_limb-girdle,_autosomal_dominant_4'] | TACGTGCATATGTGTGGGCATGCAAGTCCAACTGTGACCCAAAGTTAGAGATCAGTTCCAGGCAACAACAGCTCTAACTAAAAACATTAAATTTAAGAGTAGAAATGAAGATTTGCATAGAAGACCTTTAGCTTTAGCTTACCATAGCGAGTTCTTTCATTGCACCTCCATGGTGGCATTGCAAGTCTTGGATCAGAGCATTGTATCTCTGGAGCTCAGATCCCAGGGTCTCGCTTGGCTCAACCTCATGTGCTTATAGCAGATTTATAAAGCCATGTTGTCTCTCAACTTAAAAGCTCCACCCCAGATGCTAATAATGG... | TACGTGCATATGTGTGGGCATGCAAGTCCAACTGTGACCCAAAGTTAGAGATCAGTTCCAGGCAACAACAGCTCTAACTAAAAACATTAAATTTAAGAGTAGAAATGAAGATTTGCATAGAAGACCTTTAGCTTTAGCTTACCATAGCGAGTTCTTTCATTGCACCTCCATGGTGGCATTGCAAGTCTTGGATCAGAGCATTGTATCTCTGGAGCTCAGATCCCAGGGTCTCGCTTGGCTCAACCTCATGTGCTTATAGCAGATTTATAAAGCCATGTTGTCTCTCAACTTAAAAGCTCCACCCCAGATGCTAATAATGG... | pathogenic | 230,649 |
Is the genetic change at chromosome 15, position 42392634, within gene CAPN3 (calpain 3) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2A'] | TACTGAGCCATACAGAAAAACACAGAGGAAAATTTCACTTATATTTTTCCCCATGTAAAGATAACCACTCTTAACATCTAGTATATGTTCTTCCAGGATTTTTCTATGCACACACTGAATCTGTATTTTTATTTTTAAAATGTTATCATATTGTATGTACCTCTTTGCAGCCTGCTTTTTTCAGTTAGTTTTTTTTGTTTTTTTGTTTTTTTTTTTTTTTTTGGAAACCAAGTCTTGCTCTATTCCCTAGGCTGGAGCACAGTGGTGCCATCTCGGCTCACTGCAACCTCTGCCTCCAAAGTTAAACTAATTCTCCTGCC... | TACTGAGCCATACAGAAAAACACAGAGGAAAATTTCACTTATATTTTTCCCCATGTAAAGATAACCACTCTTAACATCTAGTATATGTTCTTCCAGGATTTTTCTATGCACACACTGAATCTGTATTTTTATTTTTAAAATGTTATCATATTGTATGTACCTCTTTGCAGCCTGCTTTTTTCAGTTAGTTTTTTTTGTTTTTTTGTTTTTTTTTTTTTTTTTGGAAACCAAGTCTTGCTCTATTCCCTAGGCTGGAGCACAGTGGTGCCATCTCGGCTCACTGCAACCTCTGCCTCCAAAGTTAAACTAATTCTCCTGCC... | pathogenic | 230,655 |
A mutation at chromosome position 42394267 on chromosome 15 in gene CAPN3 (calpain 3): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2A', 'Muscular_dystrophy,_limb-girdle,_autosomal_dominant_4'] | ACCCCTTTTCTCAACCTCTTTCTCTTCCAGGAATAGTCAACCCTGGATGGCTTCAGGGGAAGGGGGATCCTGAAGCCCAGGGCAGCCTCCAACTCTACCCCTTCCTCCTTTGAAGGATACTAAGGGGTCCAGAAAGGAGGGGCAGGACACTGTTACCCACCCCACATCCCAGCATCCACATTGCTCTCTGATGGTCAGGACAGAGCCTTCTCAGGGAGACCAGCCTGTCTGGAGCTGTGTCTCTTGGCACTCTTAAAGGGCCACTGAAGGTCCGTTCGTGGTCGTGAGGCACACTTTCAGGGAGCAGAGTGGTCTGTGTC... | ACCCCTTTTCTCAACCTCTTTCTCTTCCAGGAATAGTCAACCCTGGATGGCTTCAGGGGAAGGGGGATCCTGAAGCCCAGGGCAGCCTCCAACTCTACCCCTTCCTCCTTTGAAGGATACTAAGGGGTCCAGAAAGGAGGGGCAGGACACTGTTACCCACCCCACATCCCAGCATCCACATTGCTCTCTGATGGTCAGGACAGAGCCTTCTCAGGGAGACCAGCCTGTCTGGAGCTGTGTCTCTTGGCACTCTTAAAGGGCCACTGAAGGTCCGTTCGTGGTCGTGAGGCACACTTTCAGGGAGCAGAGTGGTCTGTGTC... | pathogenic | 230,666 |
Chromosome 15, position 42399593, gene CAPN3 (calpain 3): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2A', 'Muscular_dystrophy,_limb-girdle,_autosomal_dominant_4'] | GAGGCAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTACAGTGAGCCCAGATTGCGCCACTGCACTCCAGCCTGGGCGACAAGAGAGACTCTGTCTTGGAAAAAAAAAAAAAAATGTTGTCTTAGTATAATGTCAAGGGAAAGGTTTTTTGTGTTTTTATTACTTTATTTTTTATTTAAAAACTATAATAGAGACGGGCCTCGCTATATTTCTCGGGCTGGTCTCAAACTCCTGGGCTCAAGCGGTCCTCCCACCTTGGCCTCCCAAAATGCTGGCATGTGGGCCTGGTCAACATATGGGACCCCAACTCTACAAAAAA... | GAGGCAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTACAGTGAGCCCAGATTGCGCCACTGCACTCCAGCCTGGGCGACAAGAGAGACTCTGTCTTGGAAAAAAAAAAAAAAATGTTGTCTTAGTATAATGTCAAGGGAAAGGTTTTTTGTGTTTTTATTACTTTATTTTTTATTTAAAAACTATAATAGAGACGGGCCTCGCTATATTTCTCGGGCTGGTCTCAAACTCCTGGGCTCAAGCGGTCCTCCCACCTTGGCCTCCCAAAATGCTGGCATGTGGGCCTGGTCAACATATGGGACCCCAACTCTACAAAAAA... | pathogenic | 230,685 |
Considering the variant on chromosome 15, location 42399616, involving gene CAPN3 (calpain 3), 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_2A', 'CAPN3-related_disorder', 'Cardiac_arrhythmia', 'Elbow_flexion_contracture', 'Lower-limb_joint_contracture', 'Muscle_weakness', 'Muscular_dystrophy', 'Muscular_dystrophy,_limb-girdle,_autosomal_dominant_4'] | TGGGAGGCAGAGGTTACAGTGAGCCCAGATTGCGCCACTGCACTCCAGCCTGGGCGACAAGAGAGACTCTGTCTTGGAAAAAAAAAAAAAAATGTTGTCTTAGTATAATGTCAAGGGAAAGGTTTTTTGTGTTTTTATTACTTTATTTTTTATTTAAAAACTATAATAGAGACGGGCCTCGCTATATTTCTCGGGCTGGTCTCAAACTCCTGGGCTCAAGCGGTCCTCCCACCTTGGCCTCCCAAAATGCTGGCATGTGGGCCTGGTCAACATATGGGACCCCAACTCTACAAAAAATTTTAAAATTAGCCAGATGTGGT... | TGGGAGGCAGAGGTTACAGTGAGCCCAGATTGCGCCACTGCACTCCAGCCTGGGCGACAAGAGAGACTCTGTCTTGGAAAAAAAAAAAAAAATGTTGTCTTAGTATAATGTCAAGGGAAAGGTTTTTTGTGTTTTTATTACTTTATTTTTTATTTAAAAACTATAATAGAGACGGGCCTCGCTATATTTCTCGGGCTGGTCTCAAACTCCTGGGCTCAAGCGGTCCTCCCACCTTGGCCTCCCAAAATGCTGGCATGTGGGCCTGGTCAACATATGGGACCCCAACTCTACAAAAAATTTTAAAATTAGCCAGATGTGGT... | pathogenic | 230,691 |
A mutation at chromosome position 42401642 on chromosome 15 in gene CAPN3: benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2A'] | TGTGAACGAGGGCCGCTGGGTACGGGGTTGCTCTGCCGGAGGCTGCCGCAACTTCCCAGGTGGGAGATGCTCTTGATGGGGGGAGGGTCTAAGCCGAAAAAGTTCCAGGCAGAAGAAGCCTAACTAGTGCTTATTAAGTCTCTCTGTTCCAGACGTCCACTATCTTATTAAACCTTCCCTGTTTTACTGAGAAGGAAACCACCATGCTGAGAAGTTTGCAATAGGGAGCTGGTAGCAACTTTGAAGCAGGAAACTGTGGGAACAATGCAGATGCTGCTTGACTTACGATGAGGTTATGTCCAGATAAGCCCATCCATCTT... | TGTGAACGAGGGCCGCTGGGTACGGGGTTGCTCTGCCGGAGGCTGCCGCAACTTCCCAGGTGGGAGATGCTCTTGATGGGGGGAGGGTCTAAGCCGAAAAAGTTCCAGGCAGAAGAAGCCTAACTAGTGCTTATTAAGTCTCTCTGTTCCAGACGTCCACTATCTTATTAAACCTTCCCTGTTTTACTGAGAAGGAAACCACCATGCTGAGAAGTTTGCAATAGGGAGCTGGTAGCAACTTTGAAGCAGGAAACTGTGGGAACAATGCAGATGCTGCTTGACTTACGATGAGGTTATGTCCAGATAAGCCCATCCATCTT... | pathogenic | 230,702 |
Considering the genetic mutation at chromosome 15, position 42401680, impacting CAPN3: is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy', 'Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2A', 'Muscular_dystrophy,_limb-girdle,_autosomal_dominant_4'] | GAGGCTGCCGCAACTTCCCAGGTGGGAGATGCTCTTGATGGGGGGAGGGTCTAAGCCGAAAAAGTTCCAGGCAGAAGAAGCCTAACTAGTGCTTATTAAGTCTCTCTGTTCCAGACGTCCACTATCTTATTAAACCTTCCCTGTTTTACTGAGAAGGAAACCACCATGCTGAGAAGTTTGCAATAGGGAGCTGGTAGCAACTTTGAAGCAGGAAACTGTGGGAACAATGCAGATGCTGCTTGACTTACGATGAGGTTATGTCCAGATAAGCCCATCCATCTTTGAAAATACCCTAAGTGAAAAGTGCATTCAATATGCCT... | GAGGCTGCCGCAACTTCCCAGGTGGGAGATGCTCTTGATGGGGGGAGGGTCTAAGCCGAAAAAGTTCCAGGCAGAAGAAGCCTAACTAGTGCTTATTAAGTCTCTCTGTTCCAGACGTCCACTATCTTATTAAACCTTCCCTGTTTTACTGAGAAGGAAACCACCATGCTGAGAAGTTTGCAATAGGGAGCTGGTAGCAACTTTGAAGCAGGAAACTGTGGGAACAATGCAGATGCTGCTTGACTTACGATGAGGTTATGTCCAGATAAGCCCATCCATCTTTGAAAATACCCTAAGTGAAAAGTGCATTCAATATGCCT... | pathogenic | 230,704 |
Mutation found at chromosome 15 position 42401754, gene CAPN3 (calpain 3): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2A', 'Muscular_dystrophy,_limb-girdle,_autosomal_dominant_4'] | AAGAAGCCTAACTAGTGCTTATTAAGTCTCTCTGTTCCAGACGTCCACTATCTTATTAAACCTTCCCTGTTTTACTGAGAAGGAAACCACCATGCTGAGAAGTTTGCAATAGGGAGCTGGTAGCAACTTTGAAGCAGGAAACTGTGGGAACAATGCAGATGCTGCTTGACTTACGATGAGGTTATGTCCAGATAAGCCCATCCATCTTTGAAAATACCCTAAGTGAAAAGTGCATTCAATATGCCTAACCCACCAAACATCATAGCTTAGCCTGGCCTACCTTAAACATGCTCGGAACACTGACCTTAGCCTAAAGTTGG... | AAGAAGCCTAACTAGTGCTTATTAAGTCTCTCTGTTCCAGACGTCCACTATCTTATTAAACCTTCCCTGTTTTACTGAGAAGGAAACCACCATGCTGAGAAGTTTGCAATAGGGAGCTGGTAGCAACTTTGAAGCAGGAAACTGTGGGAACAATGCAGATGCTGCTTGACTTACGATGAGGTTATGTCCAGATAAGCCCATCCATCTTTGAAAATACCCTAAGTGAAAAGTGCATTCAATATGCCTAACCCACCAAACATCATAGCTTAGCCTGGCCTACCTTAAACATGCTCGGAACACTGACCTTAGCCTAAAGTTGG... | pathogenic | 230,712 |
Variant in gene CAPN3 (calpain 3), located at chromosome 15 position 42401755: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2A', 'Muscular_dystrophy,_limb-girdle,_autosomal_dominant_4'] | AGAAGCCTAACTAGTGCTTATTAAGTCTCTCTGTTCCAGACGTCCACTATCTTATTAAACCTTCCCTGTTTTACTGAGAAGGAAACCACCATGCTGAGAAGTTTGCAATAGGGAGCTGGTAGCAACTTTGAAGCAGGAAACTGTGGGAACAATGCAGATGCTGCTTGACTTACGATGAGGTTATGTCCAGATAAGCCCATCCATCTTTGAAAATACCCTAAGTGAAAAGTGCATTCAATATGCCTAACCCACCAAACATCATAGCTTAGCCTGGCCTACCTTAAACATGCTCGGAACACTGACCTTAGCCTAAAGTTGGG... | AGAAGCCTAACTAGTGCTTATTAAGTCTCTCTGTTCCAGACGTCCACTATCTTATTAAACCTTCCCTGTTTTACTGAGAAGGAAACCACCATGCTGAGAAGTTTGCAATAGGGAGCTGGTAGCAACTTTGAAGCAGGAAACTGTGGGAACAATGCAGATGCTGCTTGACTTACGATGAGGTTATGTCCAGATAAGCCCATCCATCTTTGAAAATACCCTAAGTGAAAAGTGCATTCAATATGCCTAACCCACCAAACATCATAGCTTAGCCTGGCCTACCTTAAACATGCTCGGAACACTGACCTTAGCCTAAAGTTGGG... | pathogenic | 230,714 |
Benign or pathogenic: chromosome 15, position 42401770, gene CAPN3 (calpain 3) variant? Disease(s) if pathogenic? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2A'] | GCTTATTAAGTCTCTCTGTTCCAGACGTCCACTATCTTATTAAACCTTCCCTGTTTTACTGAGAAGGAAACCACCATGCTGAGAAGTTTGCAATAGGGAGCTGGTAGCAACTTTGAAGCAGGAAACTGTGGGAACAATGCAGATGCTGCTTGACTTACGATGAGGTTATGTCCAGATAAGCCCATCCATCTTTGAAAATACCCTAAGTGAAAAGTGCATTCAATATGCCTAACCCACCAAACATCATAGCTTAGCCTGGCCTACCTTAAACATGCTCGGAACACTGACCTTAGCCTAAAGTTGGGCAAAATCATCTAACT... | GCTTATTAAGTCTCTCTGTTCCAGACGTCCACTATCTTATTAAACCTTCCCTGTTTTACTGAGAAGGAAACCACCATGCTGAGAAGTTTGCAATAGGGAGCTGGTAGCAACTTTGAAGCAGGAAACTGTGGGAACAATGCAGATGCTGCTTGACTTACGATGAGGTTATGTCCAGATAAGCCCATCCATCTTTGAAAATACCCTAAGTGAAAAGTGCATTCAATATGCCTAACCCACCAAACATCATAGCTTAGCCTGGCCTACCTTAAACATGCTCGGAACACTGACCTTAGCCTAAAGTTGGGCAAAATCATCTAACT... | pathogenic | 230,716 |
Is chromosome 15, position 42402088, gene CAPN3 (calpain 3) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | benign | CTCAAAGCCTATTTTACAAGAAAGTGTTGAATATCTCATGTAACTTACTTAATACTGTACTAAAAGTGAAAAACAGAATGGTTGTACGGGTACTCGAAATCCAGTTTCTACTGAATGTGCATCTCTTTCACATTGTAAAGTTAAAAAATTGTAGCCGAACCATCCTAAGTCAGGGACTGTGAGTACTGTGTCAGTAACAGTAAGGGCACTATTGGAGAACCAAGTTAGCAGCTGCTGCAATAGTTCAAGTCAGAGATGATGAAAACCTAGACCAAGTCAGTAGCAGCAGAGATGGAGGGGAGACAGCAGATTTAGGGAGA... | CTCAAAGCCTATTTTACAAGAAAGTGTTGAATATCTCATGTAACTTACTTAATACTGTACTAAAAGTGAAAAACAGAATGGTTGTACGGGTACTCGAAATCCAGTTTCTACTGAATGTGCATCTCTTTCACATTGTAAAGTTAAAAAATTGTAGCCGAACCATCCTAAGTCAGGGACTGTGAGTACTGTGTCAGTAACAGTAAGGGCACTATTGGAGAACCAAGTTAGCAGCTGCTGCAATAGTTCAAGTCAGAGATGATGAAAACCTAGACCAAGTCAGTAGCAGCAGAGATGGAGGGGAGACAGCAGATTTAGGGAGA... | benign | 230,720 |
Does the variant on chromosome 15 at location 42402897 affecting gene CAPN3 (calpain 3) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2A', 'Muscular_dystrophy,_limb-girdle,_autosomal_dominant_4'] | TTAGATGGCACTTGGTGATATGATAAGAACTCAAAAAATATTTGAGGAATAAAGGAAAGAAGAGGCCAGACGTGGTGGCTTATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCGGATCACTTGTGGTCAGGAGTTCGAGACCAGCTTGGCTAACATGGTGAAAACCCATCTCTACTAAAGATACAAAAATTAACCGGGGATGATGGTGGGTGCCTGTAATCCCAGCTACTTGGGAGGCTCAGTCAGAAGAATCGCTTGAACCCAGGAGGCGGAGGCTGCAGTGAGCCGAGATCGCGCCACTGCACTCTAGCCT... | TTAGATGGCACTTGGTGATATGATAAGAACTCAAAAAATATTTGAGGAATAAAGGAAAGAAGAGGCCAGACGTGGTGGCTTATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCGGATCACTTGTGGTCAGGAGTTCGAGACCAGCTTGGCTAACATGGTGAAAACCCATCTCTACTAAAGATACAAAAATTAACCGGGGATGATGGTGGGTGCCTGTAATCCCAGCTACTTGGGAGGCTCAGTCAGAAGAATCGCTTGAACCCAGGAGGCGGAGGCTGCAGTGAGCCGAGATCGCGCCACTGCACTCTAGCCT... | pathogenic | 230,728 |
Considering the variant on chromosome 15, location 42402966, involving gene CAPN3 (calpain 3), 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_2A', 'Muscular_dystrophy,_limb-girdle,_autosomal_dominant_4'] | ACGTGGTGGCTTATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCGGATCACTTGTGGTCAGGAGTTCGAGACCAGCTTGGCTAACATGGTGAAAACCCATCTCTACTAAAGATACAAAAATTAACCGGGGATGATGGTGGGTGCCTGTAATCCCAGCTACTTGGGAGGCTCAGTCAGAAGAATCGCTTGAACCCAGGAGGCGGAGGCTGCAGTGAGCCGAGATCGCGCCACTGCACTCTAGCCTGGGCAACAGAGCCAGACTCCGTCTCAAAAAAAAAAAAGTGAGAGAGATTGAGGCTGGGATATATGGCTC... | ACGTGGTGGCTTATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCGGATCACTTGTGGTCAGGAGTTCGAGACCAGCTTGGCTAACATGGTGAAAACCCATCTCTACTAAAGATACAAAAATTAACCGGGGATGATGGTGGGTGCCTGTAATCCCAGCTACTTGGGAGGCTCAGTCAGAAGAATCGCTTGAACCCAGGAGGCGGAGGCTGCAGTGAGCCGAGATCGCGCCACTGCACTCTAGCCTGGGCAACAGAGCCAGACTCCGTCTCAAAAAAAAAAAAGTGAGAGAGATTGAGGCTGGGATATATGGCTC... | pathogenic | 230,734 |
Is the variant located on chromosome 15 at position 42402978, gene CAPN3 (calpain 3), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2A', 'Muscular_dystrophy,_limb-girdle,_autosomal_dominant_4'] | ATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCGGATCACTTGTGGTCAGGAGTTCGAGACCAGCTTGGCTAACATGGTGAAAACCCATCTCTACTAAAGATACAAAAATTAACCGGGGATGATGGTGGGTGCCTGTAATCCCAGCTACTTGGGAGGCTCAGTCAGAAGAATCGCTTGAACCCAGGAGGCGGAGGCTGCAGTGAGCCGAGATCGCGCCACTGCACTCTAGCCTGGGCAACAGAGCCAGACTCCGTCTCAAAAAAAAAAAAGTGAGAGAGATTGAGGCTGGGATATATGGCTCAGGCATCATGCG... | ATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCGGATCACTTGTGGTCAGGAGTTCGAGACCAGCTTGGCTAACATGGTGAAAACCCATCTCTACTAAAGATACAAAAATTAACCGGGGATGATGGTGGGTGCCTGTAATCCCAGCTACTTGGGAGGCTCAGTCAGAAGAATCGCTTGAACCCAGGAGGCGGAGGCTGCAGTGAGCCGAGATCGCGCCACTGCACTCTAGCCTGGGCAACAGAGCCAGACTCCGTCTCAAAAAAAAAAAAGTGAGAGAGATTGAGGCTGGGATATATGGCTCAGGCATCATGCG... | pathogenic | 230,737 |
Does the variant impacting CAPN3 (calpain 3) on chromosome 15, position 42402999, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2A'] | TGGGAGGCTGAGGCAGGCGGATCACTTGTGGTCAGGAGTTCGAGACCAGCTTGGCTAACATGGTGAAAACCCATCTCTACTAAAGATACAAAAATTAACCGGGGATGATGGTGGGTGCCTGTAATCCCAGCTACTTGGGAGGCTCAGTCAGAAGAATCGCTTGAACCCAGGAGGCGGAGGCTGCAGTGAGCCGAGATCGCGCCACTGCACTCTAGCCTGGGCAACAGAGCCAGACTCCGTCTCAAAAAAAAAAAAGTGAGAGAGATTGAGGCTGGGATATATGGCTCAGGCATCATGCGCGTGTAGGGGGCAGTTAAAAA... | TGGGAGGCTGAGGCAGGCGGATCACTTGTGGTCAGGAGTTCGAGACCAGCTTGGCTAACATGGTGAAAACCCATCTCTACTAAAGATACAAAAATTAACCGGGGATGATGGTGGGTGCCTGTAATCCCAGCTACTTGGGAGGCTCAGTCAGAAGAATCGCTTGAACCCAGGAGGCGGAGGCTGCAGTGAGCCGAGATCGCGCCACTGCACTCTAGCCTGGGCAACAGAGCCAGACTCCGTCTCAAAAAAAAAAAAGTGAGAGAGATTGAGGCTGGGATATATGGCTCAGGCATCATGCGCGTGTAGGGGGCAGTTAAAAA... | pathogenic | 230,738 |
Clinical classification of chromosome 15, position 42403764, gene CAPN3 (calpain 3): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2A', 'Muscular_dystrophy,_limb-girdle,_autosomal_dominant_4'] | TTTGCAGCTTCCTGGTGGCCCTGATGCAGAAGAACCGGCGGAAGGACCGGAAGCTAGGGGCCAGTCTCTTCACCATTGGCTTCGCCATCTACGAGGTGTGCAGTCCTGATTGGCTCCAGCCCAGGAAACATACTTTCCCAGGGAGGACGCTTCCAGGGGCTTCTAGAGGGGCCCTCTGGCTTCCTCAATACCCAGTGACCCACAGAGCTCCTGGTATCAGGACCACTTGTGTTTGTAACAAGCAAAAAATACCAGGGGGGGCATTAGAGAGGCAGTGGAGCGGGCCTGGCAGAACAGGTGCCTGGGGGTCAGGCTTCCGC... | TTTGCAGCTTCCTGGTGGCCCTGATGCAGAAGAACCGGCGGAAGGACCGGAAGCTAGGGGCCAGTCTCTTCACCATTGGCTTCGCCATCTACGAGGTGTGCAGTCCTGATTGGCTCCAGCCCAGGAAACATACTTTCCCAGGGAGGACGCTTCCAGGGGCTTCTAGAGGGGCCCTCTGGCTTCCTCAATACCCAGTGACCCACAGAGCTCCTGGTATCAGGACCACTTGTGTTTGTAACAAGCAAAAAATACCAGGGGGGGCATTAGAGAGGCAGTGGAGCGGGCCTGGCAGAACAGGTGCCTGGGGGTCAGGCTTCCGC... | pathogenic | 230,741 |
Variant on chromosome 15, at position 42405919, affecting CAPN3 (calpain 3): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2A', 'Muscular_dystrophy,_limb-girdle,_autosomal_dominant_4'] | CAGAGGGAATGGGAGTCTGGGCTGTGCTGAGCAGTCCCTCCTTGGCACTGCAAATCCTACTTTGGCATGGCCAGAAGTAATCGGCCTTAAGCACCGGGGGCCATTGAGGCAGTTCAGGGGCTGGGAAATATGGAAGAGGGTCCTGGAAAGGAGAAGCAATTTGAACAATCGGAGGGAACAAGGCCACAGGAAGGGATGACAAGAGCCGCAGCGAACACTGGATTCTGAGACTGGATAACATTGGATTTCACACATAGAGAAAAGAAAGTAAGCTGGTGCCGGACCTGGTGTTGACACTTGGATCCTCCACTTACCAGCGG... | CAGAGGGAATGGGAGTCTGGGCTGTGCTGAGCAGTCCCTCCTTGGCACTGCAAATCCTACTTTGGCATGGCCAGAAGTAATCGGCCTTAAGCACCGGGGGCCATTGAGGCAGTTCAGGGGCTGGGAAATATGGAAGAGGGTCCTGGAAAGGAGAAGCAATTTGAACAATCGGAGGGAACAAGGCCACAGGAAGGGATGACAAGAGCCGCAGCGAACACTGGATTCTGAGACTGGATAACATTGGATTTCACACATAGAGAAAAGAAAGTAAGCTGGTGCCGGACCTGGTGTTGACACTTGGATCCTCCACTTACCAGCGG... | pathogenic | 230,748 |
Is the variant located on chromosome 15 at position 42405927, gene CAPN3 (calpain 3), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2A', 'Muscular_dystrophy,_limb-girdle,_autosomal_dominant_4'] | ATGGGAGTCTGGGCTGTGCTGAGCAGTCCCTCCTTGGCACTGCAAATCCTACTTTGGCATGGCCAGAAGTAATCGGCCTTAAGCACCGGGGGCCATTGAGGCAGTTCAGGGGCTGGGAAATATGGAAGAGGGTCCTGGAAAGGAGAAGCAATTTGAACAATCGGAGGGAACAAGGCCACAGGAAGGGATGACAAGAGCCGCAGCGAACACTGGATTCTGAGACTGGATAACATTGGATTTCACACATAGAGAAAAGAAAGTAAGCTGGTGCCGGACCTGGTGTTGACACTTGGATCCTCCACTTACCAGCGGGGTGACCT... | ATGGGAGTCTGGGCTGTGCTGAGCAGTCCCTCCTTGGCACTGCAAATCCTACTTTGGCATGGCCAGAAGTAATCGGCCTTAAGCACCGGGGGCCATTGAGGCAGTTCAGGGGCTGGGAAATATGGAAGAGGGTCCTGGAAAGGAGAAGCAATTTGAACAATCGGAGGGAACAAGGCCACAGGAAGGGATGACAAGAGCCGCAGCGAACACTGGATTCTGAGACTGGATAACATTGGATTTCACACATAGAGAAAAGAAAGTAAGCTGGTGCCGGACCTGGTGTTGACACTTGGATCCTCCACTTACCAGCGGGGTGACCT... | pathogenic | 230,749 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 15, position 42405931, gene CAPN3 (calpain 3). What disease(s) is it linked to if pathogenic? | pathogenic; ['Abnormality_of_the_musculature', 'Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2A', 'Muscular_dystrophy,_limb-girdle,_autosomal_dominant_4'] | GAGTCTGGGCTGTGCTGAGCAGTCCCTCCTTGGCACTGCAAATCCTACTTTGGCATGGCCAGAAGTAATCGGCCTTAAGCACCGGGGGCCATTGAGGCAGTTCAGGGGCTGGGAAATATGGAAGAGGGTCCTGGAAAGGAGAAGCAATTTGAACAATCGGAGGGAACAAGGCCACAGGAAGGGATGACAAGAGCCGCAGCGAACACTGGATTCTGAGACTGGATAACATTGGATTTCACACATAGAGAAAAGAAAGTAAGCTGGTGCCGGACCTGGTGTTGACACTTGGATCCTCCACTTACCAGCGGGGTGACCTGGAC... | GAGTCTGGGCTGTGCTGAGCAGTCCCTCCTTGGCACTGCAAATCCTACTTTGGCATGGCCAGAAGTAATCGGCCTTAAGCACCGGGGGCCATTGAGGCAGTTCAGGGGCTGGGAAATATGGAAGAGGGTCCTGGAAAGGAGAAGCAATTTGAACAATCGGAGGGAACAAGGCCACAGGAAGGGATGACAAGAGCCGCAGCGAACACTGGATTCTGAGACTGGATAACATTGGATTTCACACATAGAGAAAAGAAAGTAAGCTGGTGCCGGACCTGGTGTTGACACTTGGATCCTCCACTTACCAGCGGGGTGACCTGGAC... | pathogenic | 230,750 |
Does the genetic variant at chromosome 15, position 42408246, impacting gene CAPN3 (calpain 3), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy', 'Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2A', 'Muscular_dystrophy,_limb-girdle,_autosomal_dominant_4'] | TAGTACTATAACTATCCCCATTTTCAGAGGGAGAAAAGGTACAGACTTGACTAACTTGCCCAAGGCCACACAGCCAGAGAGGGGCAGAGCCAGTACTTAGAGCCAGGCAGTCTGGGTCCAGAGTCCGTGTCCTGAACCACAAGAGGCCATCATACACCATCAGATTTGGTGCTAGCATTTCTGGTGGTGCCTGGTGGTGATGGATCCATCACAGGGGTCCTCCAGGTACTGGTGCTGGCCCAGACCAGAGCTGACACTCCTCAGGCACTACCACATTCCAGGCACTGTGCTTGGGGTCAGTCCCTCTCTTTTTTTTCCCC... | TAGTACTATAACTATCCCCATTTTCAGAGGGAGAAAAGGTACAGACTTGACTAACTTGCCCAAGGCCACACAGCCAGAGAGGGGCAGAGCCAGTACTTAGAGCCAGGCAGTCTGGGTCCAGAGTCCGTGTCCTGAACCACAAGAGGCCATCATACACCATCAGATTTGGTGCTAGCATTTCTGGTGGTGCCTGGTGGTGATGGATCCATCACAGGGGTCCTCCAGGTACTGGTGCTGGCCCAGACCAGAGCTGACACTCCTCAGGCACTACCACATTCCAGGCACTGTGCTTGGGGTCAGTCCCTCTCTTTTTTTTCCCC... | pathogenic | 230,756 |
The genetic variant at chromosome 15, position 42408272, affecting gene CAPN3 (calpain 3): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2A', 'Muscular_dystrophy,_limb-girdle,_autosomal_dominant_4'] | GAGGGAGAAAAGGTACAGACTTGACTAACTTGCCCAAGGCCACACAGCCAGAGAGGGGCAGAGCCAGTACTTAGAGCCAGGCAGTCTGGGTCCAGAGTCCGTGTCCTGAACCACAAGAGGCCATCATACACCATCAGATTTGGTGCTAGCATTTCTGGTGGTGCCTGGTGGTGATGGATCCATCACAGGGGTCCTCCAGGTACTGGTGCTGGCCCAGACCAGAGCTGACACTCCTCAGGCACTACCACATTCCAGGCACTGTGCTTGGGGTCAGTCCCTCTCTTTTTTTTCCCCCCCAATTATAACAGTATCTACAAAGT... | GAGGGAGAAAAGGTACAGACTTGACTAACTTGCCCAAGGCCACACAGCCAGAGAGGGGCAGAGCCAGTACTTAGAGCCAGGCAGTCTGGGTCCAGAGTCCGTGTCCTGAACCACAAGAGGCCATCATACACCATCAGATTTGGTGCTAGCATTTCTGGTGGTGCCTGGTGGTGATGGATCCATCACAGGGGTCCTCCAGGTACTGGTGCTGGCCCAGACCAGAGCTGACACTCCTCAGGCACTACCACATTCCAGGCACTGTGCTTGGGGTCAGTCCCTCTCTTTTTTTTCCCCCCCAATTATAACAGTATCTACAAAGT... | pathogenic | 230,758 |
A genetic alteration at chromosome 15, position 42409349, in gene CAPN3 (calpain 3)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2A'] | TAAAGGATGAGTAAACTGAGGCCAGAGAGGATATTTTTGGTTTTTTTTGAGACAGTCTCACTCTGTCACCCAGCCTGGAGTGCAGTGGCTTGATCTTGGCTCACTGCAAGCTCCACCTCCCATGTTCACACCATTTTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCACCCACCACCACACCCAGCTAATTTTTTTGTATCTTTAGTAGAGATGGGGTTTCACCCAGTTAGCCAGGATGGTCTTGATCTCCTGACCTTGTGATCTGCCTGCTTCGGCCTCCTAAAGTGCTGGGATTACAGGCGTGAGCCACCGT... | TAAAGGATGAGTAAACTGAGGCCAGAGAGGATATTTTTGGTTTTTTTTGAGACAGTCTCACTCTGTCACCCAGCCTGGAGTGCAGTGGCTTGATCTTGGCTCACTGCAAGCTCCACCTCCCATGTTCACACCATTTTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCACCCACCACCACACCCAGCTAATTTTTTTGTATCTTTAGTAGAGATGGGGTTTCACCCAGTTAGCCAGGATGGTCTTGATCTCCTGACCTTGTGATCTGCCTGCTTCGGCCTCCTAAAGTGCTGGGATTACAGGCGTGAGCCACCGT... | pathogenic | 230,769 |
Is the genetic mutation found on chromosome 15 at position 42409368, within the gene CAPN3 (calpain 3), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2A', 'Muscular_dystrophy,_limb-girdle,_autosomal_dominant_4'] | GGCCAGAGAGGATATTTTTGGTTTTTTTTGAGACAGTCTCACTCTGTCACCCAGCCTGGAGTGCAGTGGCTTGATCTTGGCTCACTGCAAGCTCCACCTCCCATGTTCACACCATTTTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCACCCACCACCACACCCAGCTAATTTTTTTGTATCTTTAGTAGAGATGGGGTTTCACCCAGTTAGCCAGGATGGTCTTGATCTCCTGACCTTGTGATCTGCCTGCTTCGGCCTCCTAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCGGCCAGAGAGGATAT... | GGCCAGAGAGGATATTTTTGGTTTTTTTTGAGACAGTCTCACTCTGTCACCCAGCCTGGAGTGCAGTGGCTTGATCTTGGCTCACTGCAAGCTCCACCTCCCATGTTCACACCATTTTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCACCCACCACCACACCCAGCTAATTTTTTTGTATCTTTAGTAGAGATGGGGTTTCACCCAGTTAGCCAGGATGGTCTTGATCTCCTGACCTTGTGATCTGCCTGCTTCGGCCTCCTAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCGGCCAGAGAGGATAT... | pathogenic | 230,770 |
Is the genetic variant on chromosome 15, position 42409791, gene CAPN3 (calpain 3), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2A'] | GGTTGTAGAGGTTCCTTTGAGGTGCCTCAGTAGCTGCCATGGTGATGTGGGGTGCTGAGGGCAAAGAGCTCTGTTCTCATTAATCAGAGAAGCTTGTGTTTTTATATACACCATGTTTCTGCAGGAAATTTAATTTGAACAGTGTTTCCATCTGGAAAAAAAAAAGTCTACAAAATACTTGACAATCACTGCACTAGATCATGCTGCTTTTAGCATTCTTAGCATTTCACGTGCTGAGCTCTCAATACTCTACCATGAGGAGGGATGGAGTGGGTATGAAAAGATAAAGAACTGAAGTCACACGGCTTGTCAGTGGCAGA... | GGTTGTAGAGGTTCCTTTGAGGTGCCTCAGTAGCTGCCATGGTGATGTGGGGTGCTGAGGGCAAAGAGCTCTGTTCTCATTAATCAGAGAAGCTTGTGTTTTTATATACACCATGTTTCTGCAGGAAATTTAATTTGAACAGTGTTTCCATCTGGAAAAAAAAAAGTCTACAAAATACTTGACAATCACTGCACTAGATCATGCTGCTTTTAGCATTCTTAGCATTTCACGTGCTGAGCTCTCAATACTCTACCATGAGGAGGGATGGAGTGGGTATGAAAAGATAAAGAACTGAAGTCACACGGCTTGTCAGTGGCAGA... | pathogenic | 230,774 |
Variant at chromosome position 42409825, chromosome 15, gene CAPN3 (calpain 3): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2A'] | TGCCATGGTGATGTGGGGTGCTGAGGGCAAAGAGCTCTGTTCTCATTAATCAGAGAAGCTTGTGTTTTTATATACACCATGTTTCTGCAGGAAATTTAATTTGAACAGTGTTTCCATCTGGAAAAAAAAAAGTCTACAAAATACTTGACAATCACTGCACTAGATCATGCTGCTTTTAGCATTCTTAGCATTTCACGTGCTGAGCTCTCAATACTCTACCATGAGGAGGGATGGAGTGGGTATGAAAAGATAAAGAACTGAAGTCACACGGCTTGTCAGTGGCAGAGATAGAGCTTGAACCGAGGTTGAAGAGCTCCCGC... | TGCCATGGTGATGTGGGGTGCTGAGGGCAAAGAGCTCTGTTCTCATTAATCAGAGAAGCTTGTGTTTTTATATACACCATGTTTCTGCAGGAAATTTAATTTGAACAGTGTTTCCATCTGGAAAAAAAAAAGTCTACAAAATACTTGACAATCACTGCACTAGATCATGCTGCTTTTAGCATTCTTAGCATTTCACGTGCTGAGCTCTCAATACTCTACCATGAGGAGGGATGGAGTGGGTATGAAAAGATAAAGAACTGAAGTCACACGGCTTGTCAGTGGCAGAGATAGAGCTTGAACCGAGGTTGAAGAGCTCCCGC... | pathogenic | 230,775 |
Variant at chromosome 15, position 42409826, gene CAPN3 (calpain 3): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2A'] | GCCATGGTGATGTGGGGTGCTGAGGGCAAAGAGCTCTGTTCTCATTAATCAGAGAAGCTTGTGTTTTTATATACACCATGTTTCTGCAGGAAATTTAATTTGAACAGTGTTTCCATCTGGAAAAAAAAAAGTCTACAAAATACTTGACAATCACTGCACTAGATCATGCTGCTTTTAGCATTCTTAGCATTTCACGTGCTGAGCTCTCAATACTCTACCATGAGGAGGGATGGAGTGGGTATGAAAAGATAAAGAACTGAAGTCACACGGCTTGTCAGTGGCAGAGATAGAGCTTGAACCGAGGTTGAAGAGCTCCCGCC... | GCCATGGTGATGTGGGGTGCTGAGGGCAAAGAGCTCTGTTCTCATTAATCAGAGAAGCTTGTGTTTTTATATACACCATGTTTCTGCAGGAAATTTAATTTGAACAGTGTTTCCATCTGGAAAAAAAAAAGTCTACAAAATACTTGACAATCACTGCACTAGATCATGCTGCTTTTAGCATTCTTAGCATTTCACGTGCTGAGCTCTCAATACTCTACCATGAGGAGGGATGGAGTGGGTATGAAAAGATAAAGAACTGAAGTCACACGGCTTGTCAGTGGCAGAGATAGAGCTTGAACCGAGGTTGAAGAGCTCCCGCC... | pathogenic | 230,776 |
For chromosome 15, position 42409844, gene CAPN3 (calpain 3): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2A'] | GCTGAGGGCAAAGAGCTCTGTTCTCATTAATCAGAGAAGCTTGTGTTTTTATATACACCATGTTTCTGCAGGAAATTTAATTTGAACAGTGTTTCCATCTGGAAAAAAAAAAGTCTACAAAATACTTGACAATCACTGCACTAGATCATGCTGCTTTTAGCATTCTTAGCATTTCACGTGCTGAGCTCTCAATACTCTACCATGAGGAGGGATGGAGTGGGTATGAAAAGATAAAGAACTGAAGTCACACGGCTTGTCAGTGGCAGAGATAGAGCTTGAACCGAGGTTGAAGAGCTCCCGCCTATTCCTTTCCTCTTCTC... | GCTGAGGGCAAAGAGCTCTGTTCTCATTAATCAGAGAAGCTTGTGTTTTTATATACACCATGTTTCTGCAGGAAATTTAATTTGAACAGTGTTTCCATCTGGAAAAAAAAAAGTCTACAAAATACTTGACAATCACTGCACTAGATCATGCTGCTTTTAGCATTCTTAGCATTTCACGTGCTGAGCTCTCAATACTCTACCATGAGGAGGGATGGAGTGGGTATGAAAAGATAAAGAACTGAAGTCACACGGCTTGTCAGTGGCAGAGATAGAGCTTGAACCGAGGTTGAAGAGCTCCCGCCTATTCCTTTCCTCTTCTC... | pathogenic | 230,777 |
Variant at chromosome 15, position 42409944, gene CAPN3 (calpain 3): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2A', 'Muscular_dystrophy,_limb-girdle,_autosomal_dominant_4'] | GGAAAAAAAAAAGTCTACAAAATACTTGACAATCACTGCACTAGATCATGCTGCTTTTAGCATTCTTAGCATTTCACGTGCTGAGCTCTCAATACTCTACCATGAGGAGGGATGGAGTGGGTATGAAAAGATAAAGAACTGAAGTCACACGGCTTGTCAGTGGCAGAGATAGAGCTTGAACCGAGGTTGAAGAGCTCCCGCCTATTCCTTTCCTCTTCTCACTGGATAAAGCTGCTCCAAGAGAGGTGCTGCCTCAGTGTGCCTGTTCAGACTGTAATCCTCCCTTCCTTCCTGCCTCCTCCCTCCTCTCTCCAGCCCAT... | GGAAAAAAAAAAGTCTACAAAATACTTGACAATCACTGCACTAGATCATGCTGCTTTTAGCATTCTTAGCATTTCACGTGCTGAGCTCTCAATACTCTACCATGAGGAGGGATGGAGTGGGTATGAAAAGATAAAGAACTGAAGTCACACGGCTTGTCAGTGGCAGAGATAGAGCTTGAACCGAGGTTGAAGAGCTCCCGCCTATTCCTTTCCTCTTCTCACTGGATAAAGCTGCTCCAAGAGAGGTGCTGCCTCAGTGTGCCTGTTCAGACTGTAATCCTCCCTTCCTTCCTGCCTCCTCCCTCCTCTCTCCAGCCCAT... | pathogenic | 230,782 |
Mutation at chromosome 15, position 42409994, within CAPN3 (calpain 3): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2A', 'Muscular_dystrophy,_limb-girdle,_autosomal_dominant_4'] | CTGCTTTTAGCATTCTTAGCATTTCACGTGCTGAGCTCTCAATACTCTACCATGAGGAGGGATGGAGTGGGTATGAAAAGATAAAGAACTGAAGTCACACGGCTTGTCAGTGGCAGAGATAGAGCTTGAACCGAGGTTGAAGAGCTCCCGCCTATTCCTTTCCTCTTCTCACTGGATAAAGCTGCTCCAAGAGAGGTGCTGCCTCAGTGTGCCTGTTCAGACTGTAATCCTCCCTTCCTTCCTGCCTCCTCCCTCCTCTCTCCAGCCCATCATCTTCGTTTCGGACAGAGCAAACAGCAACAAGGAGCTGGGTGTGGACC... | CTGCTTTTAGCATTCTTAGCATTTCACGTGCTGAGCTCTCAATACTCTACCATGAGGAGGGATGGAGTGGGTATGAAAAGATAAAGAACTGAAGTCACACGGCTTGTCAGTGGCAGAGATAGAGCTTGAACCGAGGTTGAAGAGCTCCCGCCTATTCCTTTCCTCTTCTCACTGGATAAAGCTGCTCCAAGAGAGGTGCTGCCTCAGTGTGCCTGTTCAGACTGTAATCCTCCCTTCCTTCCTGCCTCCTCCCTCCTCTCTCCAGCCCATCATCTTCGTTTCGGACAGAGCAAACAGCAACAAGGAGCTGGGTGTGGACC... | pathogenic | 230,785 |
Does the genetic variant at chromosome 15, position 42410490, impacting gene CAPN3 (calpain 3), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2A'] | GAATTTGTCCCACTGACCTTTTCTTTCAGCAAGTTCCCCTGAAATTTGGGCTGCTGCTTGGGTGAATATCCCAGGATGGGGGTTCCATTCTAGGAGTGGACTGGCAGGCTGAGCCTCCCATGGAGCTGATCCAGCCAGGATACAGAGAAGGGGAGGCAAAGGCTGAGACAGAACCAGCTTGAGAGCGGAGGCGCAACTCTTGTCTCCTGGTGGCCTTGAGCATTTCACAATAGGGGGATAAAGGATAGGAGCAGAAAAGTGGGGCTGACTTCAGAAATGGGGTCCTCTAGAGCTCACGGGAGGGTGTTAGATTGGAGTGG... | GAATTTGTCCCACTGACCTTTTCTTTCAGCAAGTTCCCCTGAAATTTGGGCTGCTGCTTGGGTGAATATCCCAGGATGGGGGTTCCATTCTAGGAGTGGACTGGCAGGCTGAGCCTCCCATGGAGCTGATCCAGCCAGGATACAGAGAAGGGGAGGCAAAGGCTGAGACAGAACCAGCTTGAGAGCGGAGGCGCAACTCTTGTCTCCTGGTGGCCTTGAGCATTTCACAATAGGGGGATAAAGGATAGGAGCAGAAAAGTGGGGCTGACTTCAGAAATGGGGTCCTCTAGAGCTCACGGGAGGGTGTTAGATTGGAGTGG... | pathogenic | 230,793 |
A mutation at chromosome position 42410606 on chromosome 15 in gene CAPN3 (calpain 3): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2A', 'Muscular_dystrophy,_limb-girdle,_autosomal_dominant_4'] | CCCATGGAGCTGATCCAGCCAGGATACAGAGAAGGGGAGGCAAAGGCTGAGACAGAACCAGCTTGAGAGCGGAGGCGCAACTCTTGTCTCCTGGTGGCCTTGAGCATTTCACAATAGGGGGATAAAGGATAGGAGCAGAAAAGTGGGGCTGACTTCAGAAATGGGGTCCTCTAGAGCTCACGGGAGGGTGTTAGATTGGAGTGGGAGCTTAGTGGAGGTGAGCCTTAGAGGCAAAAGTCTCCAGACCAATCCAGGGCCCCTCTTCTATCCGGGGGCCCCTCTTCTATCCAGGGCCCCTCTTCTGTCTGGGAGCCCCTCTT... | CCCATGGAGCTGATCCAGCCAGGATACAGAGAAGGGGAGGCAAAGGCTGAGACAGAACCAGCTTGAGAGCGGAGGCGCAACTCTTGTCTCCTGGTGGCCTTGAGCATTTCACAATAGGGGGATAAAGGATAGGAGCAGAAAAGTGGGGCTGACTTCAGAAATGGGGTCCTCTAGAGCTCACGGGAGGGTGTTAGATTGGAGTGGGAGCTTAGTGGAGGTGAGCCTTAGAGGCAAAAGTCTCCAGACCAATCCAGGGCCCCTCTTCTATCCGGGGGCCCCTCTTCTATCCAGGGCCCCTCTTCTGTCTGGGAGCCCCTCTT... | pathogenic | 230,796 |
A genetic alteration at chromosome 15, position 42410632, in gene CAPN3 (calpain 3)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2A', 'Muscular_dystrophy,_limb-girdle,_autosomal_dominant_4'] | CAGAGAAGGGGAGGCAAAGGCTGAGACAGAACCAGCTTGAGAGCGGAGGCGCAACTCTTGTCTCCTGGTGGCCTTGAGCATTTCACAATAGGGGGATAAAGGATAGGAGCAGAAAAGTGGGGCTGACTTCAGAAATGGGGTCCTCTAGAGCTCACGGGAGGGTGTTAGATTGGAGTGGGAGCTTAGTGGAGGTGAGCCTTAGAGGCAAAAGTCTCCAGACCAATCCAGGGCCCCTCTTCTATCCGGGGGCCCCTCTTCTATCCAGGGCCCCTCTTCTGTCTGGGAGCCCCTCTTCTATCTGGGGCCTCATGCAGTGGGGC... | CAGAGAAGGGGAGGCAAAGGCTGAGACAGAACCAGCTTGAGAGCGGAGGCGCAACTCTTGTCTCCTGGTGGCCTTGAGCATTTCACAATAGGGGGATAAAGGATAGGAGCAGAAAAGTGGGGCTGACTTCAGAAATGGGGTCCTCTAGAGCTCACGGGAGGGTGTTAGATTGGAGTGGGAGCTTAGTGGAGGTGAGCCTTAGAGGCAAAAGTCTCCAGACCAATCCAGGGCCCCTCTTCTATCCGGGGGCCCCTCTTCTATCCAGGGCCCCTCTTCTGTCTGGGAGCCCCTCTTCTATCTGGGGCCTCATGCAGTGGGGC... | pathogenic | 230,798 |
Does the genetic variant at chromosome 15, position 42410897, impacting gene CAPN3 (calpain 3), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy', 'Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2A', 'CAPN3-related_disorder', 'Muscular_dystrophy,_limb-girdle,_autosomal_dominant_4'] | GGCCCCTCTTCTGTCTGGGAGCCCCTCTTCTATCTGGGGCCTCATGCAGTGGGGCCTAGGGGAGGTTCTCTGAGGACTTGGCCTTGATGACAGGGTGGCTGGAGGAATCAGAACGGTCAGACCTTCTTTGACCTGCGGGCACCTTTAGTTGGAATGGTCAGGCCTGGGATGGTGGAGGGGGCTCTTGCAGGTGGGGACTGGGGTGGCGGGGAGGAGGCTGTATGGCCGCCATATCTCCTTTGGCTGGGGGCGTCAGGGCTGGAGAGGTGTGAAGAGTCCCTGAGGCCTCGATGCATCTCACTCCAGCTCACCAGGTCTGC... | GGCCCCTCTTCTGTCTGGGAGCCCCTCTTCTATCTGGGGCCTCATGCAGTGGGGCCTAGGGGAGGTTCTCTGAGGACTTGGCCTTGATGACAGGGTGGCTGGAGGAATCAGAACGGTCAGACCTTCTTTGACCTGCGGGCACCTTTAGTTGGAATGGTCAGGCCTGGGATGGTGGAGGGGGCTCTTGCAGGTGGGGACTGGGGTGGCGGGGAGGAGGCTGTATGGCCGCCATATCTCCTTTGGCTGGGGGCGTCAGGGCTGGAGAGGTGTGAAGAGTCCCTGAGGCCTCGATGCATCTCACTCCAGCTCACCAGGTCTGC... | pathogenic | 230,806 |
Evaluate if the mutation on chromosome 15 at position 42410909 in CAPN3 (calpain 3) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2A'] | GTCTGGGAGCCCCTCTTCTATCTGGGGCCTCATGCAGTGGGGCCTAGGGGAGGTTCTCTGAGGACTTGGCCTTGATGACAGGGTGGCTGGAGGAATCAGAACGGTCAGACCTTCTTTGACCTGCGGGCACCTTTAGTTGGAATGGTCAGGCCTGGGATGGTGGAGGGGGCTCTTGCAGGTGGGGACTGGGGTGGCGGGGAGGAGGCTGTATGGCCGCCATATCTCCTTTGGCTGGGGGCGTCAGGGCTGGAGAGGTGTGAAGAGTCCCTGAGGCCTCGATGCATCTCACTCCAGCTCACCAGGTCTGCATTTGCCCGTCC... | GTCTGGGAGCCCCTCTTCTATCTGGGGCCTCATGCAGTGGGGCCTAGGGGAGGTTCTCTGAGGACTTGGCCTTGATGACAGGGTGGCTGGAGGAATCAGAACGGTCAGACCTTCTTTGACCTGCGGGCACCTTTAGTTGGAATGGTCAGGCCTGGGATGGTGGAGGGGGCTCTTGCAGGTGGGGACTGGGGTGGCGGGGAGGAGGCTGTATGGCCGCCATATCTCCTTTGGCTGGGGGCGTCAGGGCTGGAGAGGTGTGAAGAGTCCCTGAGGCCTCGATGCATCTCACTCCAGCTCACCAGGTCTGCATTTGCCCGTCC... | pathogenic | 230,808 |
Gene CAPN3 (calpain 3) variant at chromosome position 42410931 on chromosome 15: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2A', 'Muscular_dystrophy,_limb-girdle,_autosomal_dominant_4'] | TGGGGCCTCATGCAGTGGGGCCTAGGGGAGGTTCTCTGAGGACTTGGCCTTGATGACAGGGTGGCTGGAGGAATCAGAACGGTCAGACCTTCTTTGACCTGCGGGCACCTTTAGTTGGAATGGTCAGGCCTGGGATGGTGGAGGGGGCTCTTGCAGGTGGGGACTGGGGTGGCGGGGAGGAGGCTGTATGGCCGCCATATCTCCTTTGGCTGGGGGCGTCAGGGCTGGAGAGGTGTGAAGAGTCCCTGAGGCCTCGATGCATCTCACTCCAGCTCACCAGGTCTGCATTTGCCCGTCCCCAGCTCCTGCTGCCACCTCCG... | TGGGGCCTCATGCAGTGGGGCCTAGGGGAGGTTCTCTGAGGACTTGGCCTTGATGACAGGGTGGCTGGAGGAATCAGAACGGTCAGACCTTCTTTGACCTGCGGGCACCTTTAGTTGGAATGGTCAGGCCTGGGATGGTGGAGGGGGCTCTTGCAGGTGGGGACTGGGGTGGCGGGGAGGAGGCTGTATGGCCGCCATATCTCCTTTGGCTGGGGGCGTCAGGGCTGGAGAGGTGTGAAGAGTCCCTGAGGCCTCGATGCATCTCACTCCAGCTCACCAGGTCTGCATTTGCCCGTCCCCAGCTCCTGCTGCCACCTCCG... | pathogenic | 230,811 |
Mutation at chromosome 15, position 42410934, within CAPN3 (calpain 3): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2A'] | GGCCTCATGCAGTGGGGCCTAGGGGAGGTTCTCTGAGGACTTGGCCTTGATGACAGGGTGGCTGGAGGAATCAGAACGGTCAGACCTTCTTTGACCTGCGGGCACCTTTAGTTGGAATGGTCAGGCCTGGGATGGTGGAGGGGGCTCTTGCAGGTGGGGACTGGGGTGGCGGGGAGGAGGCTGTATGGCCGCCATATCTCCTTTGGCTGGGGGCGTCAGGGCTGGAGAGGTGTGAAGAGTCCCTGAGGCCTCGATGCATCTCACTCCAGCTCACCAGGTCTGCATTTGCCCGTCCCCAGCTCCTGCTGCCACCTCCGGCC... | GGCCTCATGCAGTGGGGCCTAGGGGAGGTTCTCTGAGGACTTGGCCTTGATGACAGGGTGGCTGGAGGAATCAGAACGGTCAGACCTTCTTTGACCTGCGGGCACCTTTAGTTGGAATGGTCAGGCCTGGGATGGTGGAGGGGGCTCTTGCAGGTGGGGACTGGGGTGGCGGGGAGGAGGCTGTATGGCCGCCATATCTCCTTTGGCTGGGGGCGTCAGGGCTGGAGAGGTGTGAAGAGTCCCTGAGGCCTCGATGCATCTCACTCCAGCTCACCAGGTCTGCATTTGCCCGTCCCCAGCTCCTGCTGCCACCTCCGGCC... | pathogenic | 230,812 |
Is the chromosome 15, position 42410954 variant in CAPN3 (calpain 3) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2A', 'Muscular_dystrophy,_limb-girdle,_autosomal_dominant_4'] | AGGGGAGGTTCTCTGAGGACTTGGCCTTGATGACAGGGTGGCTGGAGGAATCAGAACGGTCAGACCTTCTTTGACCTGCGGGCACCTTTAGTTGGAATGGTCAGGCCTGGGATGGTGGAGGGGGCTCTTGCAGGTGGGGACTGGGGTGGCGGGGAGGAGGCTGTATGGCCGCCATATCTCCTTTGGCTGGGGGCGTCAGGGCTGGAGAGGTGTGAAGAGTCCCTGAGGCCTCGATGCATCTCACTCCAGCTCACCAGGTCTGCATTTGCCCGTCCCCAGCTCCTGCTGCCACCTCCGGCCGTTTTAGGCACTTGGCTCCC... | AGGGGAGGTTCTCTGAGGACTTGGCCTTGATGACAGGGTGGCTGGAGGAATCAGAACGGTCAGACCTTCTTTGACCTGCGGGCACCTTTAGTTGGAATGGTCAGGCCTGGGATGGTGGAGGGGGCTCTTGCAGGTGGGGACTGGGGTGGCGGGGAGGAGGCTGTATGGCCGCCATATCTCCTTTGGCTGGGGGCGTCAGGGCTGGAGAGGTGTGAAGAGTCCCTGAGGCCTCGATGCATCTCACTCCAGCTCACCAGGTCTGCATTTGCCCGTCCCCAGCTCCTGCTGCCACCTCCGGCCGTTTTAGGCACTTGGCTCCC... | pathogenic | 230,815 |
The genetic variant at chromosome 15, position 42410981, affecting gene CAPN3 (calpain 3): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2A'] | TGATGACAGGGTGGCTGGAGGAATCAGAACGGTCAGACCTTCTTTGACCTGCGGGCACCTTTAGTTGGAATGGTCAGGCCTGGGATGGTGGAGGGGGCTCTTGCAGGTGGGGACTGGGGTGGCGGGGAGGAGGCTGTATGGCCGCCATATCTCCTTTGGCTGGGGGCGTCAGGGCTGGAGAGGTGTGAAGAGTCCCTGAGGCCTCGATGCATCTCACTCCAGCTCACCAGGTCTGCATTTGCCCGTCCCCAGCTCCTGCTGCCACCTCCGGCCGTTTTAGGCACTTGGCTCCCTTGGCCCAGAGGAGCTTGCCTCACAGG... | TGATGACAGGGTGGCTGGAGGAATCAGAACGGTCAGACCTTCTTTGACCTGCGGGCACCTTTAGTTGGAATGGTCAGGCCTGGGATGGTGGAGGGGGCTCTTGCAGGTGGGGACTGGGGTGGCGGGGAGGAGGCTGTATGGCCGCCATATCTCCTTTGGCTGGGGGCGTCAGGGCTGGAGAGGTGTGAAGAGTCCCTGAGGCCTCGATGCATCTCACTCCAGCTCACCAGGTCTGCATTTGCCCGTCCCCAGCTCCTGCTGCCACCTCCGGCCGTTTTAGGCACTTGGCTCCCTTGGCCCAGAGGAGCTTGCCTCACAGG... | pathogenic | 230,817 |
Variant at chromosome 15, position 42410982, gene CAPN3 (calpain 3): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2A'] | GATGACAGGGTGGCTGGAGGAATCAGAACGGTCAGACCTTCTTTGACCTGCGGGCACCTTTAGTTGGAATGGTCAGGCCTGGGATGGTGGAGGGGGCTCTTGCAGGTGGGGACTGGGGTGGCGGGGAGGAGGCTGTATGGCCGCCATATCTCCTTTGGCTGGGGGCGTCAGGGCTGGAGAGGTGTGAAGAGTCCCTGAGGCCTCGATGCATCTCACTCCAGCTCACCAGGTCTGCATTTGCCCGTCCCCAGCTCCTGCTGCCACCTCCGGCCGTTTTAGGCACTTGGCTCCCTTGGCCCAGAGGAGCTTGCCTCACAGGC... | GATGACAGGGTGGCTGGAGGAATCAGAACGGTCAGACCTTCTTTGACCTGCGGGCACCTTTAGTTGGAATGGTCAGGCCTGGGATGGTGGAGGGGGCTCTTGCAGGTGGGGACTGGGGTGGCGGGGAGGAGGCTGTATGGCCGCCATATCTCCTTTGGCTGGGGGCGTCAGGGCTGGAGAGGTGTGAAGAGTCCCTGAGGCCTCGATGCATCTCACTCCAGCTCACCAGGTCTGCATTTGCCCGTCCCCAGCTCCTGCTGCCACCTCCGGCCGTTTTAGGCACTTGGCTCCCTTGGCCCAGAGGAGCTTGCCTCACAGGC... | pathogenic | 230,818 |
Considering the variant on chromosome 15, location 42410982, involving gene CAPN3 (calpain 3), 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', 'Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2A', 'Muscular_dystrophy,_limb-girdle,_autosomal_dominant_4', 'Myositis,_eosinophilic'] | GATGACAGGGTGGCTGGAGGAATCAGAACGGTCAGACCTTCTTTGACCTGCGGGCACCTTTAGTTGGAATGGTCAGGCCTGGGATGGTGGAGGGGGCTCTTGCAGGTGGGGACTGGGGTGGCGGGGAGGAGGCTGTATGGCCGCCATATCTCCTTTGGCTGGGGGCGTCAGGGCTGGAGAGGTGTGAAGAGTCCCTGAGGCCTCGATGCATCTCACTCCAGCTCACCAGGTCTGCATTTGCCCGTCCCCAGCTCCTGCTGCCACCTCCGGCCGTTTTAGGCACTTGGCTCCCTTGGCCCAGAGGAGCTTGCCTCACAGGC... | GATGACAGGGTGGCTGGAGGAATCAGAACGGTCAGACCTTCTTTGACCTGCGGGCACCTTTAGTTGGAATGGTCAGGCCTGGGATGGTGGAGGGGGCTCTTGCAGGTGGGGACTGGGGTGGCGGGGAGGAGGCTGTATGGCCGCCATATCTCCTTTGGCTGGGGGCGTCAGGGCTGGAGAGGTGTGAAGAGTCCCTGAGGCCTCGATGCATCTCACTCCAGCTCACCAGGTCTGCATTTGCCCGTCCCCAGCTCCTGCTGCCACCTCCGGCCGTTTTAGGCACTTGGCTCCCTTGGCCCAGAGGAGCTTGCCTCACAGGC... | pathogenic | 230,819 |
Is the genetic change at chromosome 15, position 42411011, within gene CAPN3 (calpain 3) benign or pathogenic? Name the disease(s) if pathogenic. | benign | GGTCAGACCTTCTTTGACCTGCGGGCACCTTTAGTTGGAATGGTCAGGCCTGGGATGGTGGAGGGGGCTCTTGCAGGTGGGGACTGGGGTGGCGGGGAGGAGGCTGTATGGCCGCCATATCTCCTTTGGCTGGGGGCGTCAGGGCTGGAGAGGTGTGAAGAGTCCCTGAGGCCTCGATGCATCTCACTCCAGCTCACCAGGTCTGCATTTGCCCGTCCCCAGCTCCTGCTGCCACCTCCGGCCGTTTTAGGCACTTGGCTCCCTTGGCCCAGAGGAGCTTGCCTCACAGGCCTGTGCACCTCTGACCCCTGTGAACCAGT... | GGTCAGACCTTCTTTGACCTGCGGGCACCTTTAGTTGGAATGGTCAGGCCTGGGATGGTGGAGGGGGCTCTTGCAGGTGGGGACTGGGGTGGCGGGGAGGAGGCTGTATGGCCGCCATATCTCCTTTGGCTGGGGGCGTCAGGGCTGGAGAGGTGTGAAGAGTCCCTGAGGCCTCGATGCATCTCACTCCAGCTCACCAGGTCTGCATTTGCCCGTCCCCAGCTCCTGCTGCCACCTCCGGCCGTTTTAGGCACTTGGCTCCCTTGGCCCAGAGGAGCTTGCCTCACAGGCCTGTGCACCTCTGACCCCTGTGAACCAGT... | benign | 230,822 |
Regarding the variant at chromosome 15 and position 42727692, affecting gene CDAN1 (codanin 1): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic | GCCCTAGGATAGGAATTTGATCTGCAACTGTGGAAAGAGGAAAGCCAAGCTTTAAAAGATGGGGGCAGGCCGGGTGCGGTGACTCACACCTATAATCCCAACACTTCGGGAGGCTGAGGTGGGCAGATCAGGGGTTCGAGACCAGTCTGGCCAACATAGTGAAACCCCATCTCTATTAAAAATACCAAAATTAGCCAGGCGTGGTGGAAGGCACCTGTAGTCCCAGCTACTTGGCCGAGGCAGAATTGCTTGAACCCGGGAGGCAGAGGTTGCAGTTAGCTAAGATCGTGCCACTGCACTCCAGCCTGGGCAACAGAACA... | GCCCTAGGATAGGAATTTGATCTGCAACTGTGGAAAGAGGAAAGCCAAGCTTTAAAAGATGGGGGCAGGCCGGGTGCGGTGACTCACACCTATAATCCCAACACTTCGGGAGGCTGAGGTGGGCAGATCAGGGGTTCGAGACCAGTCTGGCCAACATAGTGAAACCCCATCTCTATTAAAAATACCAAAATTAGCCAGGCGTGGTGGAAGGCACCTGTAGTCCCAGCTACTTGGCCGAGGCAGAATTGCTTGAACCCGGGAGGCAGAGGTTGCAGTTAGCTAAGATCGTGCCACTGCACTCCAGCCTGGGCAACAGAACA... | pathogenic | 230,884 |
Considering the variant on chromosome 15, location 43260232, involving gene TGM5 (transglutaminase 5), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Acral_peeling_skin_syndrome'] | AAACCTGCATGTTGTGCACACATACCATAGAACTTAACGTATAATAATAAAAAAAAGAAACCATTACAAAAAAAAAAAAGAAAAACTACCTGTTGGGTAGTATGCTTATTACCTGGGTAATAAAATAATGCGTACATCAAACCAAACCTCTGTGGTGTGCAATTTACCTACATAGCAAATCTGTATGTGTACCCCTGAACCTAAAATAAAGGTTAAAAATTATCTTTTTAAAGTTAAGAACAAACAAACAAAAGGCCATGGGCACAGACGTCCACTTTGCAGGGTCCTAGAACTGTCTGGAAACTCTGTCTGACCCTGAG... | AAACCTGCATGTTGTGCACACATACCATAGAACTTAACGTATAATAATAAAAAAAAGAAACCATTACAAAAAAAAAAAAGAAAAACTACCTGTTGGGTAGTATGCTTATTACCTGGGTAATAAAATAATGCGTACATCAAACCAAACCTCTGTGGTGTGCAATTTACCTACATAGCAAATCTGTATGTGTACCCCTGAACCTAAAATAAAGGTTAAAAATTATCTTTTTAAAGTTAAGAACAAACAAACAAAAGGCCATGGGCACAGACGTCCACTTTGCAGGGTCCTAGAACTGTCTGGAAACTCTGTCTGACCCTGAG... | pathogenic | 231,088 |
Is the chromosome 15, position 43383359 variant in TUBGCP4 (tubulin gamma complex component 4) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Microcephaly_and_chorioretinopathy_3'] | CACATTTGATCTTTTTAAAGAGAGATTCCATTCAGTTAAATAACACAGTCAAGTTCTTGTAATTTCTTTTTCTCCCAACCTTTTATTTTGAAAAATTTTAAACCTACAAAAAAGTTGAAAGAAACGTATAATAAAACACTTGTAGGCTGGGCTCGGTGGCTCACGCTTGTAATCCCAGCACTTTGGAAGGCTGAGGCAGAGGGATCGCTTGAGCCCAGGAGTTCGAGACCAGCCTGGGCAACATAGCGAGACCCTGTCTGTACCAAAAATAAAAAAATTAGCCAGGTGTGGTGCCTGCCTGTAGTCCCAGCTACGGGAAG... | CACATTTGATCTTTTTAAAGAGAGATTCCATTCAGTTAAATAACACAGTCAAGTTCTTGTAATTTCTTTTTCTCCCAACCTTTTATTTTGAAAAATTTTAAACCTACAAAAAAGTTGAAAGAAACGTATAATAAAACACTTGTAGGCTGGGCTCGGTGGCTCACGCTTGTAATCCCAGCACTTTGGAAGGCTGAGGCAGAGGGATCGCTTGAGCCCAGGAGTTCGAGACCAGCCTGGGCAACATAGCGAGACCCTGTCTGTACCAAAAATAAAAAAATTAGCCAGGTGTGGTGCCTGCCTGTAGTCCCAGCTACGGGAAG... | pathogenic | 231,102 |
Variant in gene TUBGCP4 (tubulin gamma complex component 4), located at chromosome 15 position 43385777: benign or pathogenic? What disease(s) does it cause if pathogenic? | benign | ATTATAAGTCTTACTTATGTAGCTACTCTAATGGAGCAGCTAGCTACATTTTAGATTTTAAATACAGTTTGGAGTTTTGTTTTTTTTTTTAAAGACAGATTCTCACCCATCGCCCAGGCTGGAGTGCGATGGCGCAATCTTGGCTCACTGCAGCCACTGCCTCCCAGGTTCAAGCAATTCTCCTGCCTTAGCCTCCCAAGTACCTGGAACCAGGCATGTGCCACCATGCCTAGCTAATTTTCATATTTTTTATTTTCATATTTTTAGTAGAGACAGGGTTTTGTCATGTTGGCCAGGCTGGTCTCGAACGCCTGACCTCA... | ATTATAAGTCTTACTTATGTAGCTACTCTAATGGAGCAGCTAGCTACATTTTAGATTTTAAATACAGTTTGGAGTTTTGTTTTTTTTTTTAAAGACAGATTCTCACCCATCGCCCAGGCTGGAGTGCGATGGCGCAATCTTGGCTCACTGCAGCCACTGCCTCCCAGGTTCAAGCAATTCTCCTGCCTTAGCCTCCCAAGTACCTGGAACCAGGCATGTGCCACCATGCCTAGCTAATTTTCATATTTTTTATTTTCATATTTTTAGTAGAGACAGGGTTTTGTCATGTTGGCCAGGCTGGTCTCGAACGCCTGACCTCA... | benign | 231,106 |
Located at chromosome 15 position 43386344, the variant affecting gene TUBGCP4 (tubulin gamma complex component 4)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | benign | AGGGGAAGAGATATAGAAAAGTAAACAGTTACATTACAGTGTGCTAAGGGCTCTGAAAAGACTAAATATGGGTATTCTTGGAACATGGTCATGGGATAGGGTCTTGGAGTGACTAGGGAAGGCTTTTCAGTGGAAGGTATGTCTAAATTGCAAAGAGTTTGGGAGGAGCCATCAAGAGACATCCAGGCAGAAGGAATGATATGTGTAAAGGTACAGGGGCCATTAAGGACATGGTTCATTTGGGGAAACAGTAGTAATTCAATTGAAATGATCAAATAAAGGCTGAAGTAAAATGTTACAAGAGATGGTGTGAGGGAGAG... | AGGGGAAGAGATATAGAAAAGTAAACAGTTACATTACAGTGTGCTAAGGGCTCTGAAAAGACTAAATATGGGTATTCTTGGAACATGGTCATGGGATAGGGTCTTGGAGTGACTAGGGAAGGCTTTTCAGTGGAAGGTATGTCTAAATTGCAAAGAGTTTGGGAGGAGCCATCAAGAGACATCCAGGCAGAAGGAATGATATGTGTAAAGGTACAGGGGCCATTAAGGACATGGTTCATTTGGGGAAACAGTAGTAATTCAATTGAAATGATCAAATAAAGGCTGAAGTAAAATGTTACAAGAGATGGTGTGAGGGAGAG... | benign | 231,115 |
Evaluate this variant at chromosome 15, position 43386344, gene TUBGCP4 (tubulin gamma complex component 4): benign or pathogenic? If pathogenic, what are the disease connection(s)? | benign | AGGGGAAGAGATATAGAAAAGTAAACAGTTACATTACAGTGTGCTAAGGGCTCTGAAAAGACTAAATATGGGTATTCTTGGAACATGGTCATGGGATAGGGTCTTGGAGTGACTAGGGAAGGCTTTTCAGTGGAAGGTATGTCTAAATTGCAAAGAGTTTGGGAGGAGCCATCAAGAGACATCCAGGCAGAAGGAATGATATGTGTAAAGGTACAGGGGCCATTAAGGACATGGTTCATTTGGGGAAACAGTAGTAATTCAATTGAAATGATCAAATAAAGGCTGAAGTAAAATGTTACAAGAGATGGTGTGAGGGAGAG... | AGGGGAAGAGATATAGAAAAGTAAACAGTTACATTACAGTGTGCTAAGGGCTCTGAAAAGACTAAATATGGGTATTCTTGGAACATGGTCATGGGATAGGGTCTTGGAGTGACTAGGGAAGGCTTTTCAGTGGAAGGTATGTCTAAATTGCAAAGAGTTTGGGAGGAGCCATCAAGAGACATCCAGGCAGAAGGAATGATATGTGTAAAGGTACAGGGGCCATTAAGGACATGGTTCATTTGGGGAAACAGTAGTAATTCAATTGAAATGATCAAATAAAGGCTGAAGTAAAATGTTACAAGAGATGGTGTGAGGGAGAG... | benign | 231,117 |
Mutation found at chromosome 15 position 43386344, gene TUBGCP4 (tubulin gamma complex component 4): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | benign | AGGGGAAGAGATATAGAAAAGTAAACAGTTACATTACAGTGTGCTAAGGGCTCTGAAAAGACTAAATATGGGTATTCTTGGAACATGGTCATGGGATAGGGTCTTGGAGTGACTAGGGAAGGCTTTTCAGTGGAAGGTATGTCTAAATTGCAAAGAGTTTGGGAGGAGCCATCAAGAGACATCCAGGCAGAAGGAATGATATGTGTAAAGGTACAGGGGCCATTAAGGACATGGTTCATTTGGGGAAACAGTAGTAATTCAATTGAAATGATCAAATAAAGGCTGAAGTAAAATGTTACAAGAGATGGTGTGAGGGAGAG... | AGGGGAAGAGATATAGAAAAGTAAACAGTTACATTACAGTGTGCTAAGGGCTCTGAAAAGACTAAATATGGGTATTCTTGGAACATGGTCATGGGATAGGGTCTTGGAGTGACTAGGGAAGGCTTTTCAGTGGAAGGTATGTCTAAATTGCAAAGAGTTTGGGAGGAGCCATCAAGAGACATCCAGGCAGAAGGAATGATATGTGTAAAGGTACAGGGGCCATTAAGGACATGGTTCATTTGGGGAAACAGTAGTAATTCAATTGAAATGATCAAATAAAGGCTGAAGTAAAATGTTACAAGAGATGGTGTGAGGGAGAG... | benign | 231,118 |
The chromosome 15, position 43600915 genetic variant in gene STRC (stereocilin): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Autosomal_recessive_nonsyndromic_hearing_loss_16', 'Rare_genetic_deafness'] | AAAAACGTGGTACTGGAGGAGTGGACACTGCTGCTACAGGCGGTGTCTTTGATATTTCTAATTTGGACCGACTAGGCAAATCAGAGGTGAGATCCTAAGGGATTAGGACAAGGAGAGGTATAGGTCTGCGAGGGCCGAAATATGGCAGTGAGTGAGCCTCCGGGATGTAAGATAATCTGAAATGAAATTCAGGTTGAGTGGGGAGGCAATTGGAAATGAGCAGGCAAGTCAGTCAGTGATAAAGAAAAACTCAGACTGTAGGAAGCAGATCAAAGATTAGTGTCCCTTAGGTGGAGCTGGTGCAACTGGTCATCGATGGA... | AAAAACGTGGTACTGGAGGAGTGGACACTGCTGCTACAGGCGGTGTCTTTGATATTTCTAATTTGGACCGACTAGGCAAATCAGAGGTGAGATCCTAAGGGATTAGGACAAGGAGAGGTATAGGTCTGCGAGGGCCGAAATATGGCAGTGAGTGAGCCTCCGGGATGTAAGATAATCTGAAATGAAATTCAGGTTGAGTGGGGAGGCAATTGGAAATGAGCAGGCAAGTCAGTCAGTGATAAAGAAAAACTCAGACTGTAGGAAGCAGATCAAAGATTAGTGTCCCTTAGGTGGAGCTGGTGCAACTGGTCATCGATGGA... | pathogenic | 231,159 |
Chromosome 15, position 43603276, gene STRC (stereocilin): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Autosomal_recessive_nonsyndromic_hearing_loss_16', 'Rare_genetic_deafness'] | TGAATAAATCAGAGTCCTGAAGGTCACTAGTATGGGGTATCAACAAAAGATAGAAAGAAGGACCAGGTAGGGTCACAGGAAAAAAATTCCTTGGGCTTTAGATGATCTATAGGGCTGGGTCTGTGGGATGGGTGTTTGGGAAGCCGTAGGGAGGAGGAAAAGTGTTACCTGAGTGGTGCTCCAGCCATCTATCTGCCCCAGGGTGCTCAGCACTCCCCAGTCCACTAGGATCAGCTCCTGTAGTTCCCGATCTCCTAGACCTATTAAGAGCCTACCAAGCTGCAGGATCTGCTCAGGACGAAATCCCCGGGGGGGACCCC... | TGAATAAATCAGAGTCCTGAAGGTCACTAGTATGGGGTATCAACAAAAGATAGAAAGAAGGACCAGGTAGGGTCACAGGAAAAAAATTCCTTGGGCTTTAGATGATCTATAGGGCTGGGTCTGTGGGATGGGTGTTTGGGAAGCCGTAGGGAGGAGGAAAAGTGTTACCTGAGTGGTGCTCCAGCCATCTATCTGCCCCAGGGTGCTCAGCACTCCCCAGTCCACTAGGATCAGCTCCTGTAGTTCCCGATCTCCTAGACCTATTAAGAGCCTACCAAGCTGCAGGATCTGCTCAGGACGAAATCCCCGGGGGGGACCCC... | pathogenic | 231,167 |
Does the chromosome 15 mutation at position 43604119 within gene STRC (stereocilin) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Autosomal_recessive_nonsyndromic_hearing_loss_16'] | CACCACTGCACTCCAGCCTGGATGCTGGGTGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAGGAGATGCAGATGTCTAGACTCTTTCCCCCAGAGGCTTATTTTTTAATTTATGAGACAGGGTCTTGCTCTGACACCCAGGCTGGAGGGCAGTGGTGCGATCTTGGCACATTGCACCCTCCACCTCCTGCACTCATGGGATTCTCCTACCCCAGCCTCCTGAGTAGCTGGGATTACAGGCATGTGCCGCCACACCCAGCTAATGTTTTTTCTATTTTTAGTAGAGACAGGGTTTCACCATGTTGC... | CACCACTGCACTCCAGCCTGGATGCTGGGTGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAGGAGATGCAGATGTCTAGACTCTTTCCCCCAGAGGCTTATTTTTTAATTTATGAGACAGGGTCTTGCTCTGACACCCAGGCTGGAGGGCAGTGGTGCGATCTTGGCACATTGCACCCTCCACCTCCTGCACTCATGGGATTCTCCTACCCCAGCCTCCTGAGTAGCTGGGATTACAGGCATGTGCCGCCACACCCAGCTAATGTTTTTTCTATTTTTAGTAGAGACAGGGTTTCACCATGTTGC... | pathogenic | 231,176 |
A mutation at chromosome position 43609329 on chromosome 15 in gene STRC (stereocilin): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Rare_genetic_deafness'] | GGGGCCATCTGGCTTAGGCTCGAACAGCTCCAAGGACCAGGAACTCACTACCTTAGTTTTTCTTATACTATGTAAAAATCTGATCTCCGTTAACTACTCTTAGTCTTGCCCAATGGGGCCACTCATAAATATGACAATCTAATTTCTACTTGATAGCCCCTCAGGTATTTGAAGGTATTTATCACATTTTTCATATATTTTTCTCTCGATCTACTCCTCTGAATGCACTAAGAACACAGTGCCCTGAGCAAACTACAATCCTCTGGGGCAGATTTGGAGCATTGCCTCCCTCACTTCAGATGCTCTGTCTCAATCTCAAT... | GGGGCCATCTGGCTTAGGCTCGAACAGCTCCAAGGACCAGGAACTCACTACCTTAGTTTTTCTTATACTATGTAAAAATCTGATCTCCGTTAACTACTCTTAGTCTTGCCCAATGGGGCCACTCATAAATATGACAATCTAATTTCTACTTGATAGCCCCTCAGGTATTTGAAGGTATTTATCACATTTTTCATATATTTTTCTCTCGATCTACTCCTCTGAATGCACTAAGAACACAGTGCCCTGAGCAAACTACAATCCTCTGGGGCAGATTTGGAGCATTGCCTCCCTCACTTCAGATGCTCTGTCTCAATCTCAAT... | pathogenic | 231,191 |
A genetic variant at chromosome 15, position 43614435, affecting gene STRC (stereocilin)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Autosomal_recessive_nonsyndromic_hearing_loss_16'] | GGGCTGAGGGTCCCATTGGCTGCACATTCCAGCAGCCCCCGTTCTACTGGCCCCGTTGGATCACTCAGGGGCACTAGGCTCTGCAGCTCCTCAGGGCTCAGGAAACAGGCGAGGGGCCCAAGCCTGAGGAGGGCATGAAGCTGACCTTTGTGTGGTCCCCAAGACTAGCACTAAGGCAGGCCTGGCAGCAGATGGTATGGGTACATACACTGGGCACTCTGACACTACACCACTACACAGGGGCACCATCTATAGACCTCTCTCCTGGAACTCTATGCTGCCTGAGGCCACTGCCTACTCTCTTGCCCCTTTCTTCCTAG... | GGGCTGAGGGTCCCATTGGCTGCACATTCCAGCAGCCCCCGTTCTACTGGCCCCGTTGGATCACTCAGGGGCACTAGGCTCTGCAGCTCCTCAGGGCTCAGGAAACAGGCGAGGGGCCCAAGCCTGAGGAGGGCATGAAGCTGACCTTTGTGTGGTCCCCAAGACTAGCACTAAGGCAGGCCTGGCAGCAGATGGTATGGGTACATACACTGGGCACTCTGACACTACACCACTACACAGGGGCACCATCTATAGACCTCTCTCCTGGAACTCTATGCTGCCTGAGGCCACTGCCTACTCTCTTGCCCCTTTCTTCCTAG... | pathogenic | 231,198 |
Regarding the variant at chromosome 15 and position 43617959, affecting gene STRC (stereocilin): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Deafness-infertility_syndrome', 'Rare_genetic_deafness'] | GGCCAGAAGGGCACCAGGACCTCATACATGGTGTCATTGGCACAGACCATCACCAGGAAGCTGCCCCCATCCGGGCAGCGTTCCCCACAGGGTCCAATGTGGCATGGTGGGGAGGCAGTGACATCTGGGGTGGGGCCCTGGCACACATGCTGGACCCAAGCCTGGTTGCTGGGGGGCACAGCCTGTAGACTTGCCTCCCCACACAGTCGCTCAGCCCACAGAGTCTCATTCTCCAAGAAGCAGCCCCAAAAGATGTCTGGGGTGAGGGGAACAGGGGGCAGGCCTTCAGGGCAGCTGGTAGGGGGTGGGAGCAGGCCAGC... | GGCCAGAAGGGCACCAGGACCTCATACATGGTGTCATTGGCACAGACCATCACCAGGAAGCTGCCCCCATCCGGGCAGCGTTCCCCACAGGGTCCAATGTGGCATGGTGGGGAGGCAGTGACATCTGGGGTGGGGCCCTGGCACACATGCTGGACCCAAGCCTGGTTGCTGGGGGGCACAGCCTGTAGACTTGCCTCCCCACACAGTCGCTCAGCCCACAGAGTCTCATTCTCCAAGAAGCAGCCCCAAAAGATGTCTGGGGTGAGGGGAACAGGGGGCAGGCCTTCAGGGCAGCTGGTAGGGGGTGGGAGCAGGCCAGC... | pathogenic | 231,202 |
Clinically, how would you classify the variant at chromosome 15, position 43618668, gene STRC (stereocilin): benign or pathogenic? If pathogenic, specify the associated illness(es). | benign | GGGGTGGGGGTGGTGATCCAGACAGAAAGCCCAGCGCCTGGACATCCCAGGAAAGGTTGTGCCGGACGCCCCTGGGTGCAGAGGGAGGAGCAGGCAGGATCTGGTCAGTTCACATTTCCTCCAGCTGAAGATTCTGACCCTGACTCAGAGCCCTCAAGGGGCATGGCAAGCATAGGCTTTTCTACAAGCGAGGTCCCTGAGAGTTTAGGCGTTACTGGTTGAAATGCTGCAACGGGGCAAAAAAGAGAAAGCTGCCCTGCCAAGGTCCAAAATCACCTAGGAGAAGCCCCAGTTGGAATTCTTTCTGTCCACCTGGCCCC... | GGGGTGGGGGTGGTGATCCAGACAGAAAGCCCAGCGCCTGGACATCCCAGGAAAGGTTGTGCCGGACGCCCCTGGGTGCAGAGGGAGGAGCAGGCAGGATCTGGTCAGTTCACATTTCCTCCAGCTGAAGATTCTGACCCTGACTCAGAGCCCTCAAGGGGCATGGCAAGCATAGGCTTTTCTACAAGCGAGGTCCCTGAGAGTTTAGGCGTTACTGGTTGAAATGCTGCAACGGGGCAAAAAAGAGAAAGCTGCCCTGCCAAGGTCCAAAATCACCTAGGAGAAGCCCCAGTTGGAATTCTTTCTGTCCACCTGGCCCC... | benign | 231,205 |
Does the genetic variant at chromosome 15, position 44563310, impacting gene SPG11 (SPG11 vesicle trafficking associated, spatacsin), appear benign or pathogenic? If pathogenic, name the associated disease(s). | benign | TTTTGTGCTGGTTATTTAACCCCTTGACACTTAGGTGCTAATGTGCAAATGAGGGAACTTGGATCTTGCTGCCAAGGGGTTAAAATTGGGAACCTAAGTTGCTACTAAATCATAGTTCAAAACCTAATAATGTTGTCGTTGTTGCTATCTGATTTCATAGCAGCAGTCACTAAATTGGAAACAAAAGGTTGCAACGTGACAAAAAAAATTGTGTAGTATTTACCAGCACCATTCAGTAATACAGCCTTAACCATACCTCCTTGAACTACTTCATAACTTGTCAAGAAAAGCAGTTTGCAGCAAGGGCATGTGGTGTGCAC... | TTTTGTGCTGGTTATTTAACCCCTTGACACTTAGGTGCTAATGTGCAAATGAGGGAACTTGGATCTTGCTGCCAAGGGGTTAAAATTGGGAACCTAAGTTGCTACTAAATCATAGTTCAAAACCTAATAATGTTGTCGTTGTTGCTATCTGATTTCATAGCAGCAGTCACTAAATTGGAAACAAAAGGTTGCAACGTGACAAAAAAAATTGTGTAGTATTTACCAGCACCATTCAGTAATACAGCCTTAACCATACCTCCTTGAACTACTTCATAACTTGTCAAGAAAAGCAGTTTGCAGCAAGGGCATGTGGTGTGCAC... | benign | 231,243 |
Evaluate this variant at chromosome 15, position 44564624, gene SPG11 (SPG11 vesicle trafficking associated, spatacsin): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Hereditary_spastic_paraplegia_11', 'Inborn_genetic_diseases'] | AGTGATTTGAGAAATTAACAAAAGTAGTGACTACACAGCAATAATTACAGTAAATTAAATAAAGATTCCTTTAAGGCAGACAAGGGCTAAGATTTCCTTAGCAGTAATAATGACATACACTGAATTGAAAATCTATTTTATTACAGAAAGATCAGTTTCTAACAAATGAAAATGTATCACCTGTTCCTTAACTGTGTAAATAATAATTAAATTTCTTTGAAACTGGAATCTGCAGGTACAGGTATTCTTTAATCATTATTGGATCATCTAAAGTAGAAGCTGTCCTGAGGAAGAGGAAGCTTTTGATCTTAATACTAGTA... | AGTGATTTGAGAAATTAACAAAAGTAGTGACTACACAGCAATAATTACAGTAAATTAAATAAAGATTCCTTTAAGGCAGACAAGGGCTAAGATTTCCTTAGCAGTAATAATGACATACACTGAATTGAAAATCTATTTTATTACAGAAAGATCAGTTTCTAACAAATGAAAATGTATCACCTGTTCCTTAACTGTGTAAATAATAATTAAATTTCTTTGAAACTGGAATCTGCAGGTACAGGTATTCTTTAATCATTATTGGATCATCTAAAGTAGAAGCTGTCCTGAGGAAGAGGAAGCTTTTGATCTTAATACTAGTA... | pathogenic | 231,247 |
The mutation in gene SPG11 (SPG11 vesicle trafficking associated, spatacsin) at chromosome 15, position 44564700—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Hereditary_spastic_paraplegia', 'Hereditary_spastic_paraplegia_11'] | CAGACAAGGGCTAAGATTTCCTTAGCAGTAATAATGACATACACTGAATTGAAAATCTATTTTATTACAGAAAGATCAGTTTCTAACAAATGAAAATGTATCACCTGTTCCTTAACTGTGTAAATAATAATTAAATTTCTTTGAAACTGGAATCTGCAGGTACAGGTATTCTTTAATCATTATTGGATCATCTAAAGTAGAAGCTGTCCTGAGGAAGAGGAAGCTTTTGATCTTAATACTAGTATCTATATAAAATGGTGTGGATGAACAATCATCTAAAATCAATCTATTTTAAATAGGAATTTCCTCCTGAAAAGTTT... | CAGACAAGGGCTAAGATTTCCTTAGCAGTAATAATGACATACACTGAATTGAAAATCTATTTTATTACAGAAAGATCAGTTTCTAACAAATGAAAATGTATCACCTGTTCCTTAACTGTGTAAATAATAATTAAATTTCTTTGAAACTGGAATCTGCAGGTACAGGTATTCTTTAATCATTATTGGATCATCTAAAGTAGAAGCTGTCCTGAGGAAGAGGAAGCTTTTGATCTTAATACTAGTATCTATATAAAATGGTGTGGATGAACAATCATCTAAAATCAATCTATTTTAAATAGGAATTTCCTCCTGAAAAGTTT... | pathogenic | 231,249 |
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