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 2, position 17781726, gene GEN1 (GEN1 Holliday junction 5' flap endonuclease): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | benign | TGCAACCTCTACCTCCCAGGTTCAAGTGATTCTTCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGCACGCACCAGCATGCCCGGCTAATTTTTGTATTTTTTATAGAGACATGGTTTCACCATGTTGATCGGGCTGGTCTGGTGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCATGATCCGCCCGCCTTGGCCTCCCAAAATGCTGGGATTACAGGTGTGAGCCATCAAGCCTGACCGATTGAATTTTTTTAAATGCCTAATTAAGGACACTTTGCTGTATTTTTAATCTTTTAGAACATTATGCTATGGAAGAT... | TGCAACCTCTACCTCCCAGGTTCAAGTGATTCTTCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGCACGCACCAGCATGCCCGGCTAATTTTTGTATTTTTTATAGAGACATGGTTTCACCATGTTGATCGGGCTGGTCTGGTGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCATGATCCGCCCGCCTTGGCCTCCCAAAATGCTGGGATTACAGGTGTGAGCCATCAAGCCTGACCGATTGAATTTTTTTAAATGCCTAATTAAGGACACTTTGCTGTATTTTTAATCTTTTAGAACATTATGCTATGGAAGAT... | benign | 28,437 |
Gene WDR35 (WD repeat domain 35) variant at chromosome 2, position 19930540—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Cranioectodermal_dysplasia_2', 'Short-rib_thoracic_dysplasia_7_with_or_without_polydactyly'] | TGACTGAGCTGGTCTCGGCACATTAAGGTAGAATTTCAAATCTGTTAAGAAAGAATAAACCTAATATATGGTTTCAGGATAACTTAGATGTTATAATAAACATAATATTTAACAAACTTGAAGGAATTCCTAAGCATGATTCCTAAGAGAAAAATATGAAGTAAAAGACTGACAGACATGACTATATAAAAAAAACTATTAATATCATCATCACAGCTACCACTTATTGAGGGCTCACAATGTCCAGGCAGCATAATAAGTGAGTTTTCTTTTCATGAACTTCTCAATCATTACAATAACTCTATGAGGAAGATACTATT... | TGACTGAGCTGGTCTCGGCACATTAAGGTAGAATTTCAAATCTGTTAAGAAAGAATAAACCTAATATATGGTTTCAGGATAACTTAGATGTTATAATAAACATAATATTTAACAAACTTGAAGGAATTCCTAAGCATGATTCCTAAGAGAAAAATATGAAGTAAAAGACTGACAGACATGACTATATAAAAAAAACTATTAATATCATCATCACAGCTACCACTTATTGAGGGCTCACAATGTCCAGGCAGCATAATAAGTGAGTTTTCTTTTCATGAACTTCTCAATCATTACAATAACTCTATGAGGAAGATACTATT... | pathogenic | 28,474 |
Gene WDR35 (WD repeat domain 35) variant at chromosome 2, position 19951416—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Cranioectodermal_dysplasia_2', 'SHORT-RIB_THORACIC_DYSPLASIA_7_WITHOUT_POLYDACTYLY', 'Short-rib_thoracic_dysplasia_7_with_or_without_polydactyly', 'Short_rib-polydactyly_syndrome'] | CTATATGTAACATGATTAGATTTATATTTTAGAAAGGCTGCAGTGGCCAGAAGTATAATAAATGGATTGGCATAGTGGGGATGGGGAAAACTGAAAGTAGAGAGGCGATTCTGTACTGTTCGATATGGTAGCCACTAACCTGATGTCACCATTTAAATGTAAACTTCAATTAATGACAGTGAAATAAAATTTAAAATTCAGTTCTTCAGTTGAACTAGCCATATTTTAAGTACTCAATAGCCACATACGGCTAATGGCTACTGCACTGGAGAACAAAGACACACAGTATTTCCATTATCACAAGAAGTTCCATTGGGCAG... | CTATATGTAACATGATTAGATTTATATTTTAGAAAGGCTGCAGTGGCCAGAAGTATAATAAATGGATTGGCATAGTGGGGATGGGGAAAACTGAAAGTAGAGAGGCGATTCTGTACTGTTCGATATGGTAGCCACTAACCTGATGTCACCATTTAAATGTAAACTTCAATTAATGACAGTGAAATAAAATTTAAAATTCAGTTCTTCAGTTGAACTAGCCATATTTTAAGTACTCAATAGCCACATACGGCTAATGGCTACTGCACTGGAGAACAAAGACACACAGTATTTCCATTATCACAAGAAGTTCCATTGGGCAG... | pathogenic | 28,503 |
Gene mutation in WDR35 (WD repeat domain 35) at chromosome 2, position 19953871—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Cranioectodermal_dysplasia_2', 'Short-rib_thoracic_dysplasia_7_with_or_without_polydactyly'] | CTTTCTCTGTTGTTTCTCCATAATTTCTCTTCTATCAATGTGTTTAATAAAAGTAAAATTTAAGTGGATTTAGGAGGTTCTAATTAATGCAACTTCTGCGCTGAAGTAAAGAAGCCTTTCCTACCCTTTCCTGTGTTAGGAAGGGGTATCACTTTTGGACATCCACTGTCTCTCTAGTACCTGTACCTGTATTATTATTTTAAAATAAATTTAAGGGGTACAAAAGTACAGTTCTGTTATATGGATATATTGAGTAGTGGTGATGTCTGGGCTTTTAGTGCAACCACAACCCAAGTAATGTACACTGTACACATTAAGTA... | CTTTCTCTGTTGTTTCTCCATAATTTCTCTTCTATCAATGTGTTTAATAAAAGTAAAATTTAAGTGGATTTAGGAGGTTCTAATTAATGCAACTTCTGCGCTGAAGTAAAGAAGCCTTTCCTACCCTTTCCTGTGTTAGGAAGGGGTATCACTTTTGGACATCCACTGTCTCTCTAGTACCTGTACCTGTATTATTATTTTAAAATAAATTTAAGGGGTACAAAAGTACAGTTCTGTTATATGGATATATTGAGTAGTGGTGATGTCTGGGCTTTTAGTGCAACCACAACCCAAGTAATGTACACTGTACACATTAAGTA... | pathogenic | 28,506 |
Clinical classification of chromosome 2, position 19974618, gene WDR35 (WD repeat domain 35): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Cranioectodermal_dysplasia_2', 'Short-rib_thoracic_dysplasia_7_with_or_without_polydactyly'] | CTTCACTTTTACATCTACGAGAAATATTGTCGTTTGACAATGTATAGAGAGCATCTACGTTCTACAGTATATTCTACTGGGTAACTTTGAGATACTGATTCAAAAGCATCAGAAGACATCATTTCTTGCCCTAAAAGAAATTATTAAAATATATAAAAATAACATTAAAACAACTGGTATAGGCTTTTATGCAGCCAAAAATATATATCACTGTAGTCTATGGCGAATTTATAAAAGCCAACAGGGTATTCAAAAGGGACAAAATATAGTACTGGGTTAGAAAATAAGACATTCAAAAAACGTATTAAGCTTAGTTATTA... | CTTCACTTTTACATCTACGAGAAATATTGTCGTTTGACAATGTATAGAGAGCATCTACGTTCTACAGTATATTCTACTGGGTAACTTTGAGATACTGATTCAAAAGCATCAGAAGACATCATTTCTTGCCCTAAAAGAAATTATTAAAATATATAAAAATAACATTAAAACAACTGGTATAGGCTTTTATGCAGCCAAAAATATATATCACTGTAGTCTATGGCGAATTTATAAAAGCCAACAGGGTATTCAAAAGGGACAAAATATAGTACTGGGTTAGAAAATAAGACATTCAAAAAACGTATTAAGCTTAGTTATTA... | pathogenic | 28,520 |
Evaluate this variant at chromosome 2, position 19975575, gene WDR35 (WD repeat domain 35): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Cranioectodermal_dysplasia_2', 'Short-rib_thoracic_dysplasia_7_with_or_without_polydactyly', 'WDR35-related_disorder'] | AATAGAAAGAAAGAAGATCAATTTGAATGCATTTACCTCACCAAACGGAGTGTAAAACTGCACAATGTTCACATCTTTGTCCTGCATGGCTGCCTTCTGGAAGCCTGCCACAGCTAACACGCTGCCCATGTGGTTCCACTGGATGCCTACTACGTACATGCCAGTGTCAATCAAAACGGGATCTAGTCAGAAAGAGAAAAATGAGGTCACTGTGGGAAAATACGTAGCCTAGAGAACTTTATAATCTTAAGAACAACTTTTAAACATTTTTAAAACTTTCCACATTTTTAAAAAAACAGGGCTGGGTACAACGGCTCACG... | AATAGAAAGAAAGAAGATCAATTTGAATGCATTTACCTCACCAAACGGAGTGTAAAACTGCACAATGTTCACATCTTTGTCCTGCATGGCTGCCTTCTGGAAGCCTGCCACAGCTAACACGCTGCCCATGTGGTTCCACTGGATGCCTACTACGTACATGCCAGTGTCAATCAAAACGGGATCTAGTCAGAAAGAGAAAAATGAGGTCACTGTGGGAAAATACGTAGCCTAGAGAACTTTATAATCTTAAGAACAACTTTTAAACATTTTTAAAACTTTCCACATTTTTAAAAAAACAGGGCTGGGTACAACGGCTCACG... | pathogenic | 28,522 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 2, position 21003346, gene APOB (apolipoprotein B). What disease(s) is it linked to if pathogenic? | benign | AATTTCTCCGTTTCCATTTTTATTCTGTTACTTAAATCACACTATGTGTTCTAGAGGTTTTGCTGTGCCAGAACATTTTATCAATGCCCTCGTTTCACTGTCTTTCAATACAAATGAGCCACATTCAGTGGTATGATACACAATAAAGACTCCATTTATTTGTTCCTCCTCCCCCAAGTTTAGCAAAATAACTCAGATCCTGATTTTCTTTAACTTGCAAAAAATGCCATCCTTCTGAGTTCAGAGACCTTCCGAGCCCTGGTGCCAGCTTTGGTGCAGGTCCAGTTCATATGTGCTTCTGCTTATAGTCTACTGCCTAC... | AATTTCTCCGTTTCCATTTTTATTCTGTTACTTAAATCACACTATGTGTTCTAGAGGTTTTGCTGTGCCAGAACATTTTATCAATGCCCTCGTTTCACTGTCTTTCAATACAAATGAGCCACATTCAGTGGTATGATACACAATAAAGACTCCATTTATTTGTTCCTCCTCCCCCAAGTTTAGCAAAATAACTCAGATCCTGATTTTCTTTAACTTGCAAAAAATGCCATCCTTCTGAGTTCAGAGACCTTCCGAGCCCTGGTGCCAGCTTTGGTGCAGGTCCAGTTCATATGTGCTTCTGCTTATAGTCTACTGCCTAC... | benign | 28,620 |
Benign or pathogenic: chromosome 2, position 21005743, gene APOB (apolipoprotein B) variant? Disease(s) if pathogenic? | pathogenic; ['Familial_hypobetalipoproteinemia_1', 'Hypercholesterolemia,_autosomal_dominant,_type_B'] | GAAATAGCAAAAAAGGCAAGTTGGAGCCCACCCTGCAGAGACCCAGAATCCCAACATCAGTACGCATTCTCCAAGCCCATGACAAACTTTTAGTAACAGTCATAGAACCATGTTTGGTCTTCTCCTCTGGTAATGTCACCCTTGATTTGGCCCTGGCAGAGCTTGTAAATGACATGAGAGGAATTTGATGTATCTCATCTAGCAATTCTATTGTGGGGAAGAATTTTAAAGTTTTAAATACTACAGAAACCAGTCCTCTCTGAAAAATATACCCTGCCTATGGCTGAGCTTGCCTATGATTTAGATGATGAGGTATAACC... | GAAATAGCAAAAAAGGCAAGTTGGAGCCCACCCTGCAGAGACCCAGAATCCCAACATCAGTACGCATTCTCCAAGCCCATGACAAACTTTTAGTAACAGTCATAGAACCATGTTTGGTCTTCTCCTCTGGTAATGTCACCCTTGATTTGGCCCTGGCAGAGCTTGTAAATGACATGAGAGGAATTTGATGTATCTCATCTAGCAATTCTATTGTGGGGAAGAATTTTAAAGTTTTAAATACTACAGAAACCAGTCCTCTCTGAAAAATATACCCTGCCTATGGCTGAGCTTGCCTATGATTTAGATGATGAGGTATAACC... | pathogenic | 28,660 |
Is the genetic mutation found on chromosome 2 at position 21006019, within the gene APOB (apolipoprotein B), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Familial_hypobetalipoproteinemia_1', 'Hypercholesterolemia,_autosomal_dominant,_type_B'] | CCTATGGCTGAGCTTGCCTATGATTTAGATGATGAGGTATAACCCTCATCTTCCTGGATTTGCCCAGAATTAATAAATAATAGTGCTGATGGGATGTCATGTGTGCATCTAAACATTAAAATCAATCAAGGACTCATTGTAATACTTTCTAGAGAATATTTCCTCAGAGAAGAAGTTGCTTACCGCCTGTCTTTCACCTAGTTTGGGGAATCTCTGAATATTTGGTCCTGAATTAAATGTATCTGCCCCAATTCTCCACTCGCTCTTGGGGGCGTGTCACTCATTAGGTGGTATTTACCTGAGGGCTGTAGTAGAAGTTC... | CCTATGGCTGAGCTTGCCTATGATTTAGATGATGAGGTATAACCCTCATCTTCCTGGATTTGCCCAGAATTAATAAATAATAGTGCTGATGGGATGTCATGTGTGCATCTAAACATTAAAATCAATCAAGGACTCATTGTAATACTTTCTAGAGAATATTTCCTCAGAGAAGAAGTTGCTTACCGCCTGTCTTTCACCTAGTTTGGGGAATCTCTGAATATTTGGTCCTGAATTAAATGTATCTGCCCCAATTCTCCACTCGCTCTTGGGGGCGTGTCACTCATTAGGTGGTATTTACCTGAGGGCTGTAGTAGAAGTTC... | pathogenic | 28,672 |
The chromosome 2, position 21006629 genetic variant in gene APOB (apolipoprotein B): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['APOB-related_disorder', 'Cardiovascular_phenotype', 'Familial_hypobetalipoproteinemia_1', 'Hypercholesterolemia,_autosomal_dominant,_type_B', 'Hypobetalipoproteinemia'] | ATCTTCTTCATATTCTGCACTGAAGTCACGGTGTGCAAATGTTCCTTTAGTCTTAGAGGCTAACGTACCATCTTCGATTTTGTGTGTTCCCAAAACTGTATAGGAGAGATTTTGTATTTTATTAGATTCATAACAGTAGGACGTTGATGTTTTCATTGTGAAAACTGGGAGAATTCTATCCTAACCAGATATTTCACTTGTGTTTAAAATATGCAATGTACAGCTCACACTTATTTTAAAATAAATAGTTAAAAGACATTGTTAGTCCTAAAATAATTACAGAAAAATCCATTTTCTTTAAAGCTGTTTGTCTTGAATGA... | ATCTTCTTCATATTCTGCACTGAAGTCACGGTGTGCAAATGTTCCTTTAGTCTTAGAGGCTAACGTACCATCTTCGATTTTGTGTGTTCCCAAAACTGTATAGGAGAGATTTTGTATTTTATTAGATTCATAACAGTAGGACGTTGATGTTTTCATTGTGAAAACTGGGAGAATTCTATCCTAACCAGATATTTCACTTGTGTTTAAAATATGCAATGTACAGCTCACACTTATTTTAAAATAAATAGTTAAAAGACATTGTTAGTCCTAAAATAATTACAGAAAAATCCATTTTCTTTAAAGCTGTTTGTCTTGAATGA... | pathogenic | 28,702 |
The mutation impacting APOB (apolipoprotein B) on chromosome 2 at position 21007235: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Familial_hypobetalipoproteinemia_1', 'Hypercholesterolemia,_autosomal_dominant,_type_B'] | TACACGGGAGAGTCTACCTCAAAGCGTGCAGTCAGTGCTTGAAAGGAAGGAATGACAATTCCAGCAGGTACAGAGAACTTAATGGAGGGAATCTCAATGGTCTGCTCAGGCACGATGATGGTGGGCAACTCAAAGTCTGCGATCTTGTTGGCTACTGCATTTAGATCCAAAGCAGCAATGCCATCTGAAACACTTTTTGGAAGCGTGAACTGGGACACAGTTAACTGAGATTCAGGCACGGTTATCTCAAAAAAGGGAATCAAGGAGTCTTCTGGTTGAGAATATTTTGTTAACACATCAACTTCAGGGAATTTTACCTC... | TACACGGGAGAGTCTACCTCAAAGCGTGCAGTCAGTGCTTGAAAGGAAGGAATGACAATTCCAGCAGGTACAGAGAACTTAATGGAGGGAATCTCAATGGTCTGCTCAGGCACGATGATGGTGGGCAACTCAAAGTCTGCGATCTTGTTGGCTACTGCATTTAGATCCAAAGCAGCAATGCCATCTGAAACACTTTTTGGAAGCGTGAACTGGGACACAGTTAACTGAGATTCAGGCACGGTTATCTCAAAAAAGGGAATCAAGGAGTCTTCTGGTTGAGAATATTTTGTTAACACATCAACTTCAGGGAATTTTACCTC... | pathogenic | 28,727 |
Mutation at chromosome 2, position 21007667, within APOB (apolipoprotein B): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Familial_hypobetalipoproteinemia', 'Familial_hypobetalipoproteinemia_1', 'Hypercholesterolemia,_autosomal_dominant,_type_B'] | TGGAACGTAGGCATGACAAGAACTGAATTTAGATCATTTAGTTTCAGCCCAGGAATAATGAATTTATCAGCCAAAACTTTTACAGGGATGGAGAATGAATAGCCATTGGGGTTTTTGGTGTACACAAAGGCAGTTGAAACACGAAGATGCTGTCTCCTACCAATGCTGGTGGTTACATCCAGCTTTAGGAAATCCCATAAGCTCTTGTCATAGACTGGTAGGATGATATTTTTGAGGAACCTTAGGTGTCCTTCTAAGGATCCTGCAATGTCAAGGTGTGCCTTTTCTTGGTCATTGGAAAGCTCGACCTGGCTCTGGAA... | TGGAACGTAGGCATGACAAGAACTGAATTTAGATCATTTAGTTTCAGCCCAGGAATAATGAATTTATCAGCCAAAACTTTTACAGGGATGGAGAATGAATAGCCATTGGGGTTTTTGGTGTACACAAAGGCAGTTGAAACACGAAGATGCTGTCTCCTACCAATGCTGGTGGTTACATCCAGCTTTAGGAAATCCCATAAGCTCTTGTCATAGACTGGTAGGATGATATTTTTGAGGAACCTTAGGTGTCCTTCTAAGGATCCTGCAATGTCAAGGTGTGCCTTTTCTTGGTCATTGGAAAGCTCGACCTGGCTCTGGAA... | pathogenic | 28,746 |
Considering the variant on chromosome 2, location 21007748, involving gene APOB (apolipoprotein B), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Early-onset_coronary_artery_disease', 'Familial_hypobetalipoproteinemia_1', 'Hypercholesterolemia,_autosomal_dominant,_type_B'] | ACAGGGATGGAGAATGAATAGCCATTGGGGTTTTTGGTGTACACAAAGGCAGTTGAAACACGAAGATGCTGTCTCCTACCAATGCTGGTGGTTACATCCAGCTTTAGGAAATCCCATAAGCTCTTGTCATAGACTGGTAGGATGATATTTTTGAGGAACCTTAGGTGTCCTTCTAAGGATCCTGCAATGTCAAGGTGTGCCTTTTCTTGGTCATTGGAAAGCTCGACCTGGCTCTGGAAAGACCCAGAATGAATCCGGACTTCATTTTTCCATCTGATCTTCTGGTTCTTAGTGTTAGCATTCAGGGCCACTTCCTGGCC... | ACAGGGATGGAGAATGAATAGCCATTGGGGTTTTTGGTGTACACAAAGGCAGTTGAAACACGAAGATGCTGTCTCCTACCAATGCTGGTGGTTACATCCAGCTTTAGGAAATCCCATAAGCTCTTGTCATAGACTGGTAGGATGATATTTTTGAGGAACCTTAGGTGTCCTTCTAAGGATCCTGCAATGTCAAGGTGTGCCTTTTCTTGGTCATTGGAAAGCTCGACCTGGCTCTGGAAAGACCCAGAATGAATCCGGACTTCATTTTTCCATCTGATCTTCTGGTTCTTAGTGTTAGCATTCAGGGCCACTTCCTGGCC... | pathogenic | 28,749 |
The mutation impacting APOB (apolipoprotein B) on chromosome 2 at position 21008127: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Familial_hypobetalipoproteinemia_1', 'Hypercholesterolemia,_autosomal_dominant,_type_B', 'Hypobetalipoproteinemia'] | ACATTTGCCATGGAGAGAGTTCCAGGGTGGCTTTGCTTGTATGTTCTCCGTTGGTGAAAAAGAGGCCCTCTAGCTGTAAGTGGTTTTTCGTACTGTGCTCCCAGAGGGAATATATGCGTTGGAGTGTGGCTTCTCCAGCAAAATTTTCTTTTACTTCAAGGTTCCAGATATCATCAATTTTGGAAGTGCCCTGCAGCTTCACTGAAGACCGTGTGCTCTTGGAATTCAAGTAAGTGTTGGCCTCACTAGCAATAGTTCCTGAATATTCCCGAGAAAGAACCGAACCCTTGACATCTCCTTTGGTAGATGACTCAATGGAA... | ACATTTGCCATGGAGAGAGTTCCAGGGTGGCTTTGCTTGTATGTTCTCCGTTGGTGAAAAAGAGGCCCTCTAGCTGTAAGTGGTTTTTCGTACTGTGCTCCCAGAGGGAATATATGCGTTGGAGTGTGGCTTCTCCAGCAAAATTTTCTTTTACTTCAAGGTTCCAGATATCATCAATTTTGGAAGTGCCCTGCAGCTTCACTGAAGACCGTGTGCTCTTGGAATTCAAGTAAGTGTTGGCCTCACTAGCAATAGTTCCTGAATATTCCCGAGAAAGAACCGAACCCTTGACATCTCCTTTGGTAGATGACTCAATGGAA... | pathogenic | 28,759 |
Chromosome 2, position 21009016, gene APOB (apolipoprotein B): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Familial_hypobetalipoproteinemia_1', 'Hypercholesterolemia,_autosomal_dominant,_type_B'] | TGGCAGGATTAATGTGTATGAAGGCACACGGACGTCAGAACCTAGGATGGAGAAACTAGGCATGCTGACTGCTTTTGGGAACACATAGCCGAATGCCGACATCTCTATGGTGAATGGAGACACTTCAACATTGACAACTGGAACAGTGTATCCAGGAATTTGAAAGGTCCTGGGGAGCTCGTCGTGAGATTTTTCAGCTTTGTACTTATCAAACTTAATTTTTGTTTCATTATAGGATTTGGTGACAAAATCTAATGCATTGTTTCTGTTTTTTTCAAAATGCCTGTCAAAGGATTTGATGCTCTGACTGATAAACTCAC... | TGGCAGGATTAATGTGTATGAAGGCACACGGACGTCAGAACCTAGGATGGAGAAACTAGGCATGCTGACTGCTTTTGGGAACACATAGCCGAATGCCGACATCTCTATGGTGAATGGAGACACTTCAACATTGACAACTGGAACAGTGTATCCAGGAATTTGAAAGGTCCTGGGGAGCTCGTCGTGAGATTTTTCAGCTTTGTACTTATCAAACTTAATTTTTGTTTCATTATAGGATTTGGTGACAAAATCTAATGCATTGTTTCTGTTTTTTTCAAAATGCCTGTCAAAGGATTTGATGCTCTGACTGATAAACTCAC... | pathogenic | 28,794 |
Benign or pathogenic: chromosome 2, position 21009931, gene APOB (apolipoprotein B) variant? Disease(s) if pathogenic? | benign | CTGGGAATCGACTTGTGATTGAATTTCAAGTTTAGAAAAGTTGAGGGAGCCAGATTCATAAACCAAGTTTTGGTTTACTCTTAGGTGTTTGCTATTGATCTTATTGGACAGTCCAAAGGAAGTGAGGGGTCCTTCTATGGTGAAACTAATTTGTGATTCATGTGTTCCCTCATCTGAGAATCTGGGGCAGGCCCATTTCCATGACCCTTTTCCAGAAGAAGTCCATGCTATGTGGCCAGCTTTCAACAGTGTCTTGATCTCGTTGCGCAGGTCAGCCTGACTAGAGAAGTCCAGTTTGGGGATGTTCAATTTGTGGAAGT... | CTGGGAATCGACTTGTGATTGAATTTCAAGTTTAGAAAAGTTGAGGGAGCCAGATTCATAAACCAAGTTTTGGTTTACTCTTAGGTGTTTGCTATTGATCTTATTGGACAGTCCAAAGGAAGTGAGGGGTCCTTCTATGGTGAAACTAATTTGTGATTCATGTGTTCCCTCATCTGAGAATCTGGGGCAGGCCCATTTCCATGACCCTTTTCCAGAAGAAGTCCATGCTATGTGGCCAGCTTTCAACAGTGTCTTGATCTCGTTGCGCAGGTCAGCCTGACTAGAGAAGTCCAGTTTGGGGATGTTCAATTTGTGGAAGT... | benign | 28,830 |
Regarding the variant found on chromosome 2 at position 21010188 in gene APOB (apolipoprotein B): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Familial_hypobetalipoproteinemia_1', 'Hypercholesterolemia,_autosomal_dominant,_type_B'] | TCTCGTTGCGCAGGTCAGCCTGACTAGAGAAGTCCAGTTTGGGGATGTTCAATTTGTGGAAGTATTTAGTGTTGCTATCCAGGGTAAGCTGATTGTTTATCTTGACAATCACTCCATTACTAAGCTCCAGTGTATTTTTTTCTGTGTGTAAACTTGCCACTGTGTTTGATTTTCCCTCAATAGCATTTCCAAAAAACAGCATTTCACTCCCATGCTCCGTTCTCAGGTACTTGCTGGAGAACTTCACTGACTCCTTCAGAGCCAGCGGATTAATCTTAGGGTTTGAGAGTTGTGCATTTGCTTGAAAATCAAAATTGAGA... | TCTCGTTGCGCAGGTCAGCCTGACTAGAGAAGTCCAGTTTGGGGATGTTCAATTTGTGGAAGTATTTAGTGTTGCTATCCAGGGTAAGCTGATTGTTTATCTTGACAATCACTCCATTACTAAGCTCCAGTGTATTTTTTTCTGTGTGTAAACTTGCCACTGTGTTTGATTTTCCCTCAATAGCATTTCCAAAAAACAGCATTTCACTCCCATGCTCCGTTCTCAGGTACTTGCTGGAGAACTTCACTGACTCCTTCAGAGCCAGCGGATTAATCTTAGGGTTTGAGAGTTGTGCATTTGCTTGAAAATCAAAATTGAGA... | pathogenic | 28,844 |
Is the genetic mutation found on chromosome 2 at position 21010324, within the gene APOB (apolipoprotein B), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Familial_hypobetalipoproteinemia_1', 'Hypercholesterolemia,_autosomal_dominant,_type_B'] | TTTTTCTGTGTGTAAACTTGCCACTGTGTTTGATTTTCCCTCAATAGCATTTCCAAAAAACAGCATTTCACTCCCATGCTCCGTTCTCAGGTACTTGCTGGAGAACTTCACTGACTCCTTCAGAGCCAGCGGATTAATCTTAGGGTTTGAGAGTTGTGCATTTGCTTGAAAATCAAAATTGAGAACTTCTAATTTGGACTCTCCTTTGGCAGTGATGGAAGCTGCGATACCTGCTTCGTTTGCTGAGGTGGTTCCATTCCCTATGTCAGCATTTGCATCTAATGTGAAAAGAGGAGATTGGATTTTCAGAATACTGTATA... | TTTTTCTGTGTGTAAACTTGCCACTGTGTTTGATTTTCCCTCAATAGCATTTCCAAAAAACAGCATTTCACTCCCATGCTCCGTTCTCAGGTACTTGCTGGAGAACTTCACTGACTCCTTCAGAGCCAGCGGATTAATCTTAGGGTTTGAGAGTTGTGCATTTGCTTGAAAATCAAAATTGAGAACTTCTAATTTGGACTCTCCTTTGGCAGTGATGGAAGCTGCGATACCTGCTTCGTTTGCTGAGGTGGTTCCATTCCCTATGTCAGCATTTGCATCTAATGTGAAAAGAGGAGATTGGATTTTCAGAATACTGTATA... | pathogenic | 28,849 |
Does the variant impacting APOB (apolipoprotein B) on chromosome 2, position 21011300, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Familial_hypobetalipoproteinemia', 'Familial_hypobetalipoproteinemia_1', 'Hypercholesterolemia,_autosomal_dominant,_type_B'] | ACCAGAGACAGGTATCGTTGAAGTTCCTGCTGAATGTCCATTTGATACATTCGGTCTCGTGTATCTTCTAGGGTCTCTCGGAATTTGGCCTTCATGTGAGCCAAAGATGCTGAACTTAAAGCCTCCTGTAACCAATTGATGATTAAGGTTATTTTGGTGTCCTGTAGGCTTTCCAGATACACTGCAACTGTGGCCTTGGTTTCCTCTAAAAACAGTTTTAATGCTTCAGCTTTTTGTGGTAGTTCCAGAGCCTGAATTTCACCATTGAGTCTCTGAGTCACCTCACGGATTTTGTCATTGGTTTCATCTACAAACTGGTG... | ACCAGAGACAGGTATCGTTGAAGTTCCTGCTGAATGTCCATTTGATACATTCGGTCTCGTGTATCTTCTAGGGTCTCTCGGAATTTGGCCTTCATGTGAGCCAAAGATGCTGAACTTAAAGCCTCCTGTAACCAATTGATGATTAAGGTTATTTTGGTGTCCTGTAGGCTTTCCAGATACACTGCAACTGTGGCCTTGGTTTCCTCTAAAAACAGTTTTAATGCTTCAGCTTTTTGTGGTAGTTCCAGAGCCTGAATTTCACCATTGAGTCTCTGAGTCACCTCACGGATTTTGTCATTGGTTTCATCTACAAACTGGTG... | pathogenic | 28,895 |
Mutation found at chromosome 2 position 21011303, gene APOB (apolipoprotein B): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic | AGAGACAGGTATCGTTGAAGTTCCTGCTGAATGTCCATTTGATACATTCGGTCTCGTGTATCTTCTAGGGTCTCTCGGAATTTGGCCTTCATGTGAGCCAAAGATGCTGAACTTAAAGCCTCCTGTAACCAATTGATGATTAAGGTTATTTTGGTGTCCTGTAGGCTTTCCAGATACACTGCAACTGTGGCCTTGGTTTCCTCTAAAAACAGTTTTAATGCTTCAGCTTTTTGTGGTAGTTCCAGAGCCTGAATTTCACCATTGAGTCTCTGAGTCACCTCACGGATTTTGTCATTGGTTTCATCTACAAACTGGTGGTA... | AGAGACAGGTATCGTTGAAGTTCCTGCTGAATGTCCATTTGATACATTCGGTCTCGTGTATCTTCTAGGGTCTCTCGGAATTTGGCCTTCATGTGAGCCAAAGATGCTGAACTTAAAGCCTCCTGTAACCAATTGATGATTAAGGTTATTTTGGTGTCCTGTAGGCTTTCCAGATACACTGCAACTGTGGCCTTGGTTTCCTCTAAAAACAGTTTTAATGCTTCAGCTTTTTGTGGTAGTTCCAGAGCCTGAATTTCACCATTGAGTCTCTGAGTCACCTCACGGATTTTGTCATTGGTTTCATCTACAAACTGGTGGTA... | pathogenic | 28,896 |
Regarding the variant at chromosome 2 and position 21011309, affecting gene APOB (apolipoprotein B): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Familial_hypercholesterolemia', 'Familial_hypobetalipoproteinemia_1', 'Hypercholesterolemia,_autosomal_dominant,_type_B'] | AGGTATCGTTGAAGTTCCTGCTGAATGTCCATTTGATACATTCGGTCTCGTGTATCTTCTAGGGTCTCTCGGAATTTGGCCTTCATGTGAGCCAAAGATGCTGAACTTAAAGCCTCCTGTAACCAATTGATGATTAAGGTTATTTTGGTGTCCTGTAGGCTTTCCAGATACACTGCAACTGTGGCCTTGGTTTCCTCTAAAAACAGTTTTAATGCTTCAGCTTTTTGTGGTAGTTCCAGAGCCTGAATTTCACCATTGAGTCTCTGAGTCACCTCACGGATTTTGTCATTGGTTTCATCTACAAACTGGTGGTAATCAAA... | AGGTATCGTTGAAGTTCCTGCTGAATGTCCATTTGATACATTCGGTCTCGTGTATCTTCTAGGGTCTCTCGGAATTTGGCCTTCATGTGAGCCAAAGATGCTGAACTTAAAGCCTCCTGTAACCAATTGATGATTAAGGTTATTTTGGTGTCCTGTAGGCTTTCCAGATACACTGCAACTGTGGCCTTGGTTTCCTCTAAAAACAGTTTTAATGCTTCAGCTTTTTGTGGTAGTTCCAGAGCCTGAATTTCACCATTGAGTCTCTGAGTCACCTCACGGATTTTGTCATTGGTTTCATCTACAAACTGGTGGTAATCAAA... | pathogenic | 28,897 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 2, position 21011551, gene APOB (apolipoprotein B). What disease(s) is it linked to if pathogenic? | pathogenic; ['Familial_hypobetalipoproteinemia_1', 'Hypercholesterolemia,_autosomal_dominant,_type_B'] | CTGAATTTCACCATTGAGTCTCTGAGTCACCTCACGGATTTTGTCATTGGTTTCATCTACAAACTGGTGGTAATCAAATGACTTTAATTTCTTTATCAACATGTCAAGGAATTTGTTAACATCTTCAATGAATGTTTTAAAAGATAATTCATTAAGCTTCTTGACAGCATCATCAATAAATCCAACCAATTTCTCAAAGTAATCTTTTATCTTAACTTGTTGTAGGACATTGCTTAGCTTCTGAATAGTCTCCTTCAACTTGTATTGGTGGGCCAACTCTACTAATTTATCCATTAAAACCTGGATTTGTTGGTCTACTT... | CTGAATTTCACCATTGAGTCTCTGAGTCACCTCACGGATTTTGTCATTGGTTTCATCTACAAACTGGTGGTAATCAAATGACTTTAATTTCTTTATCAACATGTCAAGGAATTTGTTAACATCTTCAATGAATGTTTTAAAAGATAATTCATTAAGCTTCTTGACAGCATCATCAATAAATCCAACCAATTTCTCAAAGTAATCTTTTATCTTAACTTGTTGTAGGACATTGCTTAGCTTCTGAATAGTCTCCTTCAACTTGTATTGGTGGGCCAACTCTACTAATTTATCCATTAAAACCTGGATTTGTTGGTCTACTT... | pathogenic | 28,905 |
For chromosome 2, position 21011601, gene APOB (apolipoprotein B): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Familial_hypobetalipoproteinemia', 'Familial_hypobetalipoproteinemia_1', 'Hypercholesterolemia,_autosomal_dominant,_type_B'] | TTTCATCTACAAACTGGTGGTAATCAAATGACTTTAATTTCTTTATCAACATGTCAAGGAATTTGTTAACATCTTCAATGAATGTTTTAAAAGATAATTCATTAAGCTTCTTGACAGCATCATCAATAAATCCAACCAATTTCTCAAAGTAATCTTTTATCTTAACTTGTTGTAGGACATTGCTTAGCTTCTGAATAGTCTCCTTCAACTTGTATTGGTGGGCCAACTCTACTAATTTATCCATTAAAACCTGGATTTGTTGGTCTACTTCATACCTCTCGATTAACTCATGGACTTTGGCTCTGAAGGCATTGATTTTC... | TTTCATCTACAAACTGGTGGTAATCAAATGACTTTAATTTCTTTATCAACATGTCAAGGAATTTGTTAACATCTTCAATGAATGTTTTAAAAGATAATTCATTAAGCTTCTTGACAGCATCATCAATAAATCCAACCAATTTCTCAAAGTAATCTTTTATCTTAACTTGTTGTAGGACATTGCTTAGCTTCTGAATAGTCTCCTTCAACTTGTATTGGTGGGCCAACTCTACTAATTTATCCATTAAAACCTGGATTTGTTGGTCTACTTCATACCTCTCGATTAACTCATGGACTTTGGCTCTGAAGGCATTGATTTTC... | pathogenic | 28,908 |
A mutation at chromosome position 21026916 on chromosome 2 in gene APOB (apolipoprotein B): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Familial_hypobetalipoproteinemia_1', 'Hypercholesterolemia,_autosomal_dominant,_type_B'] | CTGGGCGATCTAAAAAAAAACCAACGTCTGGTCTCATGGGCCCCCAGTGGGGCCTGCTGACTTACCATCTGGGGGATCCCCTGCAGAGTGCGGGCACCCATCAGAAGCAGCTTTCCCAGGAGCTGGAGGTCATGGAGACTGGCAAAACCAAGCTCCTCTCCCAAGATGCGGAGGTAGGCTCTGGCTTCCGGGACTTCTTTGGATTTCAAATCTTTAATCAGCTTCTCAACACTGAGCATTATTCCATTTACCATATCCTGAGAGTTTAGTAATAAAATGGCCAGTGAGATGTCAGCAATGTCAAACACCTTTCAGTTCCC... | CTGGGCGATCTAAAAAAAAACCAACGTCTGGTCTCATGGGCCCCCAGTGGGGCCTGCTGACTTACCATCTGGGGGATCCCCTGCAGAGTGCGGGCACCCATCAGAAGCAGCTTTCCCAGGAGCTGGAGGTCATGGAGACTGGCAAAACCAAGCTCCTCTCCCAAGATGCGGAGGTAGGCTCTGGCTTCCGGGACTTCTTTGGATTTCAAATCTTTAATCAGCTTCTCAACACTGAGCATTATTCCATTTACCATATCCTGAGAGTTTAGTAATAAAATGGCCAGTGAGATGTCAGCAATGTCAAACACCTTTCAGTTCCC... | pathogenic | 29,051 |
A genetic alteration at chromosome 2, position 21035656, in gene APOB (apolipoprotein B)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Familial_hypobetalipoproteinemia_1', 'Hypercholesterolemia,_autosomal_dominant,_type_B'] | GCACAGGGGAAAAGGGAAAGAAACTATCCTGTATTCAATGCCTGCTAGATCTGGCTCTGCCATAGGTGATTGACTTGTTTTCACTGACTCATCATCCTATCCCTGTGGGGTGGCATTATTGTTCAATTTAATGATAAATTCAGCCCTGCTTCTGAGACCCACAGAGTTTTTGGGCCATGTAAATTGCTCATCCCTGGATCTCAGCTCTGAGTCCCAGAGATGAGACAAAGAGATGAGACCCAGAGATGAGGAAGTGTGACCCAGAGATGAGCAACTTAGGTTTCCCAAGAGCTCTCAGGGTCTAAGAGGTAGAGCTAAAG... | GCACAGGGGAAAAGGGAAAGAAACTATCCTGTATTCAATGCCTGCTAGATCTGGCTCTGCCATAGGTGATTGACTTGTTTTCACTGACTCATCATCCTATCCCTGTGGGGTGGCATTATTGTTCAATTTAATGATAAATTCAGCCCTGCTTCTGAGACCCACAGAGTTTTTGGGCCATGTAAATTGCTCATCCCTGGATCTCAGCTCTGAGTCCCAGAGATGAGACAAAGAGATGAGACCCAGAGATGAGGAAGTGTGACCCAGAGATGAGCAACTTAGGTTTCCCAAGAGCTCTCAGGGTCTAAGAGGTAGAGCTAAAG... | pathogenic | 29,105 |
Is the chromosome 2, position 21042359 variant in APOB clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Familial_hypobetalipoproteinemia_1', 'Hypercholesterolemia,_autosomal_dominant,_type_B'] | AGAGTTTTCTGATGCTACCAAGTTAACAACTCTATCCTGCCTGTATTCATACACACCTAGGACCCTACAAACTGTGATTGAGGATGAGGCAGGGGTGATGTTGAAAATATTTACAATGGGTGCGACATGGGCCCTGACCAGTCAGCAGAGATGCAGCTGCAGTGGCCGATCAGCGTGCAGTGGCTGAATGCCAGCCTAGGAGGGGGAGCCACCGAAGCCTTGGTGCTCCTCTGCCCTGCGGTGAACAGACCCTGCCCCGCCATGTGCCGGCCACAGCAGCCAGTGCCTCTGGGACCCCACACCAAAGACCACCAAGCACT... | AGAGTTTTCTGATGCTACCAAGTTAACAACTCTATCCTGCCTGTATTCATACACACCTAGGACCCTACAAACTGTGATTGAGGATGAGGCAGGGGTGATGTTGAAAATATTTACAATGGGTGCGACATGGGCCCTGACCAGTCAGCAGAGATGCAGCTGCAGTGGCCGATCAGCGTGCAGTGGCTGAATGCCAGCCTAGGAGGGGGAGCCACCGAAGCCTTGGTGCTCCTCTGCCCTGCGGTGAACAGACCCTGCCCCGCCATGTGCCGGCCACAGCAGCCAGTGCCTCTGGGACCCCACACCAAAGACCACCAAGCACT... | pathogenic | 29,135 |
Variant at chromosome 2, position 21043858, gene APOB: clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Familial_hypobetalipoproteinemia_1', 'Hypercholesterolemia,_autosomal_dominant,_type_B', 'Hypobetalipoproteinemia'] | CTTCTCTTCCCCACCCAAACCCCAATAGCAGCCTGTAGATCTGCTCCACATGTATGTAACATGAGTACAACCAGTCTCAATAATAAGCAAAGTTTTATTTTAGAACAAACTGTATGTTTATATTTTTTTCTTCTTTCCATTCATTTTTCAGCAACAGATTCTGTTTGACTTAAATTATAAAAACTGCATTTCACAGTGCGATTCCGAGTTGCCTGCCTCCCATAGCTCACCTACTGGGCCTCTCTCACGCTGAAATCTACAGACCCACACTGCTGCTAATCTAGATCATGGATTCCTATTGCATCTGGGAAGTTAACGGG... | CTTCTCTTCCCCACCCAAACCCCAATAGCAGCCTGTAGATCTGCTCCACATGTATGTAACATGAGTACAACCAGTCTCAATAATAAGCAAAGTTTTATTTTAGAACAAACTGTATGTTTATATTTTTTTCTTCTTTCCATTCATTTTTCAGCAACAGATTCTGTTTGACTTAAATTATAAAAACTGCATTTCACAGTGCGATTCCGAGTTGCCTGCCTCCCATAGCTCACCTACTGGGCCTCTCTCACGCTGAAATCTACAGACCCACACTGCTGCTAATCTAGATCATGGATTCCTATTGCATCTGGGAAGTTAACGGG... | pathogenic | 29,148 |
Gene mutation in APOB at chromosome 2, position 21043879—is it benign or pathogenic? If pathogenic, specify the disease(s). | benign | CCAATAGCAGCCTGTAGATCTGCTCCACATGTATGTAACATGAGTACAACCAGTCTCAATAATAAGCAAAGTTTTATTTTAGAACAAACTGTATGTTTATATTTTTTTCTTCTTTCCATTCATTTTTCAGCAACAGATTCTGTTTGACTTAAATTATAAAAACTGCATTTCACAGTGCGATTCCGAGTTGCCTGCCTCCCATAGCTCACCTACTGGGCCTCTCTCACGCTGAAATCTACAGACCCACACTGCTGCTAATCTAGATCATGGATTCCTATTGCATCTGGGAAGTTAACGGGAAAATACTTCTGACTTGCGAA... | CCAATAGCAGCCTGTAGATCTGCTCCACATGTATGTAACATGAGTACAACCAGTCTCAATAATAAGCAAAGTTTTATTTTAGAACAAACTGTATGTTTATATTTTTTTCTTCTTTCCATTCATTTTTCAGCAACAGATTCTGTTTGACTTAAATTATAAAAACTGCATTTCACAGTGCGATTCCGAGTTGCCTGCCTCCCATAGCTCACCTACTGGGCCTCTCTCACGCTGAAATCTACAGACCCACACTGCTGCTAATCTAGATCATGGATTCCTATTGCATCTGGGAAGTTAACGGGAAAATACTTCTGACTTGCGAA... | benign | 29,151 |
Is chromosome 2, position 21043879, gene APOB variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | benign | CCAATAGCAGCCTGTAGATCTGCTCCACATGTATGTAACATGAGTACAACCAGTCTCAATAATAAGCAAAGTTTTATTTTAGAACAAACTGTATGTTTATATTTTTTTCTTCTTTCCATTCATTTTTCAGCAACAGATTCTGTTTGACTTAAATTATAAAAACTGCATTTCACAGTGCGATTCCGAGTTGCCTGCCTCCCATAGCTCACCTACTGGGCCTCTCTCACGCTGAAATCTACAGACCCACACTGCTGCTAATCTAGATCATGGATTCCTATTGCATCTGGGAAGTTAACGGGAAAATACTTCTGACTTGCGAA... | CCAATAGCAGCCTGTAGATCTGCTCCACATGTATGTAACATGAGTACAACCAGTCTCAATAATAAGCAAAGTTTTATTTTAGAACAAACTGTATGTTTATATTTTTTTCTTCTTTCCATTCATTTTTCAGCAACAGATTCTGTTTGACTTAAATTATAAAAACTGCATTTCACAGTGCGATTCCGAGTTGCCTGCCTCCCATAGCTCACCTACTGGGCCTCTCTCACGCTGAAATCTACAGACCCACACTGCTGCTAATCTAGATCATGGATTCCTATTGCATCTGGGAAGTTAACGGGAAAATACTTCTGACTTGCGAA... | benign | 29,152 |
Mutation found at chromosome 2 position 21043902, gene APOB: benign or pathogenic? If pathogenic, indicate the relevant disease(s). | benign | TCCACATGTATGTAACATGAGTACAACCAGTCTCAATAATAAGCAAAGTTTTATTTTAGAACAAACTGTATGTTTATATTTTTTTCTTCTTTCCATTCATTTTTCAGCAACAGATTCTGTTTGACTTAAATTATAAAAACTGCATTTCACAGTGCGATTCCGAGTTGCCTGCCTCCCATAGCTCACCTACTGGGCCTCTCTCACGCTGAAATCTACAGACCCACACTGCTGCTAATCTAGATCATGGATTCCTATTGCATCTGGGAAGTTAACGGGAAAATACTTCTGACTTGCGAAATTTGGTGGGGGCAGACCACATC... | TCCACATGTATGTAACATGAGTACAACCAGTCTCAATAATAAGCAAAGTTTTATTTTAGAACAAACTGTATGTTTATATTTTTTTCTTCTTTCCATTCATTTTTCAGCAACAGATTCTGTTTGACTTAAATTATAAAAACTGCATTTCACAGTGCGATTCCGAGTTGCCTGCCTCCCATAGCTCACCTACTGGGCCTCTCTCACGCTGAAATCTACAGACCCACACTGCTGCTAATCTAGATCATGGATTCCTATTGCATCTGGGAAGTTAACGGGAAAATACTTCTGACTTGCGAAATTTGGTGGGGGCAGACCACATC... | benign | 29,155 |
Variant at chromosome 2, position 25161587, gene POMC (proopiomelanocortin): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | benign | TACTAAAAATACAAAAGTTAGCCGGGCGTGGTGGCGCACTCTTGTAATCCCAGCTATTTGGAAGGTTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCGGAGGTTGAAGTGAGATGAGATCACACCATTGCACTCCAGCCTGGGTGACAGAGCGAGATTCCATCTCAAAAACAACAACAATGACAACAAAATGGCAGGGGAAGGTGGGGGGTTCCAGGCAGAGGGTATAGGAGGATGCGAGACCTGTGAGGAGACCAACGAGTGTGAGGCAGCGCCTTCATCCGGGGAAACTTGGGAAGCAGGGTTTGGTAAGGAGAGAG... | TACTAAAAATACAAAAGTTAGCCGGGCGTGGTGGCGCACTCTTGTAATCCCAGCTATTTGGAAGGTTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCGGAGGTTGAAGTGAGATGAGATCACACCATTGCACTCCAGCCTGGGTGACAGAGCGAGATTCCATCTCAAAAACAACAACAATGACAACAAAATGGCAGGGGAAGGTGGGGGGTTCCAGGCAGAGGGTATAGGAGGATGCGAGACCTGTGAGGAGACCAACGAGTGTGAGGCAGCGCCTTCATCCGGGGAAACTTGGGAAGCAGGGTTTGGTAAGGAGAGAG... | benign | 29,213 |
Chromosome 2, position 25244294, gene DNMT3A (DNA methyltransferase 3 alpha): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Tatton-Brown-Rahman_overgrowth_syndrome'] | TCGTGGATTGCAAAGGCTCTTCCAGACAGAGGAGGCCTCCTTCATTGTGCTTCCCCCGAGCTAACCACACAGATTTCCTTACCACGATCCCTCCCCCTCCAGAAATGCTAGCCGAACTGAGGCAAGGAAACAATCAGAGCAGATCCCGAGAGGGTCTCGGGAGAAACAGGGTACGGCACTGTTTCTGCTGCTCCCAACATGTCCCCCAGCCAAGGAGCTTTTACAGCCTCCTGGGGTGTGACATGATTTAAGAAGGCCTCAAGGTTCCAGTCTGGGATACAAAAAGCTGTAAATGAACTTCTCTAGGTTTACAGAAGAGC... | TCGTGGATTGCAAAGGCTCTTCCAGACAGAGGAGGCCTCCTTCATTGTGCTTCCCCCGAGCTAACCACACAGATTTCCTTACCACGATCCCTCCCCCTCCAGAAATGCTAGCCGAACTGAGGCAAGGAAACAATCAGAGCAGATCCCGAGAGGGTCTCGGGAGAAACAGGGTACGGCACTGTTTCTGCTGCTCCCAACATGTCCCCCAGCCAAGGAGCTTTTACAGCCTCCTGGGGTGTGACATGATTTAAGAAGGCCTCAAGGTTCCAGTCTGGGATACAAAAAGCTGTAAATGAACTTCTCTAGGTTTACAGAAGAGC... | pathogenic | 29,271 |
Evaluate if the mutation on chromosome 2 at position 25845278 in ASXL2 (ASXL transcriptional regulator 2) is benign or pathogenic. Disease name(s) if pathogenic? | benign | AGGCGGAGATTGCAGTGAGCCAAGATGGAACCGCTGCACTCCAGCCTGGGCGACACAGAGAGACTTCGTCTCAAAAAAAAAAAAAAAAAAATAGAGACGGGGTTTTACCATGTTGCCCAGGCTGGTCTCAAACTCCCGACCTCAGGTGATCGGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCATTGCACCTGGCCTTCAAATGCATTTTAATGTTTTAATTTTAAAATGTTTACACTCAATTTTTCAGGGATGTGTTATATAAAGTAAGGTAAACTAATATATTTTACTTTTTCATACCAATGAAG... | AGGCGGAGATTGCAGTGAGCCAAGATGGAACCGCTGCACTCCAGCCTGGGCGACACAGAGAGACTTCGTCTCAAAAAAAAAAAAAAAAAAATAGAGACGGGGTTTTACCATGTTGCCCAGGCTGGTCTCAAACTCCCGACCTCAGGTGATCGGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCATTGCACCTGGCCTTCAAATGCATTTTAATGTTTTAATTTTAAAATGTTTACACTCAATTTTTCAGGGATGTGTTATATAAAGTAAGGTAAACTAATATATTTTACTTTTTCATACCAATGAAG... | benign | 29,392 |
Variant at chromosome 2, position 26191313, gene HADHA: clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Long_chain_3-hydroxyacyl-CoA_dehydrogenase_deficiency', 'Mitochondrial_trifunctional_protein_deficiency'] | CCTCACAGCAGGCCTTTGTGCCCTTGAATCTCAAACATGGGGATCTGCTTGGTACCCAGAGCTCTGGTCATTGTGTCCAACCACACACCCCACCCCATCCGTGTCCTCCATCTCACCCAGAACCACAGGGTGCCCACTAGTGTCAGGGCCCAAAGTGCCAGCCTTCTCTTCTGCCTTACCTAGTCTACCTATTTATTTCCTCCACTTTTTATCTTAAAAGTAGCTAAGCCATGCTGGTGCCCATACTCCAAGCAGGCTGCCTCAGCTCAGAGAAGTGGTCAGAGAGTAGAGCACAGAACCTGTGATGTGGGGACATTTGG... | CCTCACAGCAGGCCTTTGTGCCCTTGAATCTCAAACATGGGGATCTGCTTGGTACCCAGAGCTCTGGTCATTGTGTCCAACCACACACCCCACCCCATCCGTGTCCTCCATCTCACCCAGAACCACAGGGTGCCCACTAGTGTCAGGGCCCAAAGTGCCAGCCTTCTCTTCTGCCTTACCTAGTCTACCTATTTATTTCCTCCACTTTTTATCTTAAAAGTAGCTAAGCCATGCTGGTGCCCATACTCCAAGCAGGCTGCCTCAGCTCAGAGAAGTGGTCAGAGAGTAGAGCACAGAACCTGTGATGTGGGGACATTTGG... | pathogenic | 29,400 |
The mutation in gene HADHA at chromosome 2, position 26191496—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Long_chain_3-hydroxyacyl-CoA_dehydrogenase_deficiency', 'Mitochondrial_trifunctional_protein_deficiency'] | TCTACCTATTTATTTCCTCCACTTTTTATCTTAAAAGTAGCTAAGCCATGCTGGTGCCCATACTCCAAGCAGGCTGCCTCAGCTCAGAGAAGTGGTCAGAGAGTAGAGCACAGAACCTGTGATGTGGGGACATTTGGTTTTCTTGCAGATCATTTAATGAATCCTCAAGGACTAATGAAATAAATGCTAGACTGCTGAAGATGAGTACAAGTGGCATTCTGGGTGCCAGCTGCTTTCTTCTTTTGAAAACAAGGCCATGGGGACCCATGGGCACAGTGTATATGCCTTCTGGCAGGAGAGGACTGATGGAGGAATGATGT... | TCTACCTATTTATTTCCTCCACTTTTTATCTTAAAAGTAGCTAAGCCATGCTGGTGCCCATACTCCAAGCAGGCTGCCTCAGCTCAGAGAAGTGGTCAGAGAGTAGAGCACAGAACCTGTGATGTGGGGACATTTGGTTTTCTTGCAGATCATTTAATGAATCCTCAAGGACTAATGAAATAAATGCTAGACTGCTGAAGATGAGTACAAGTGGCATTCTGGGTGCCAGCTGCTTTCTTCTTTTGAAAACAAGGCCATGGGGACCCATGGGCACAGTGTATATGCCTTCTGGCAGGAGAGGACTGATGGAGGAATGATGT... | pathogenic | 29,406 |
Variant on chromosome 2, at position 26191608, affecting HADHA: is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Long_chain_3-hydroxyacyl-CoA_dehydrogenase_deficiency', 'Mitochondrial_trifunctional_protein_deficiency', 'Mitochondrial_trifunctional_protein_deficiency_1'] | GAACCTGTGATGTGGGGACATTTGGTTTTCTTGCAGATCATTTAATGAATCCTCAAGGACTAATGAAATAAATGCTAGACTGCTGAAGATGAGTACAAGTGGCATTCTGGGTGCCAGCTGCTTTCTTCTTTTGAAAACAAGGCCATGGGGACCCATGGGCACAGTGTATATGCCTTCTGGCAGGAGAGGACTGATGGAGGAATGATGTGGGTGTGTGGCCATTCCCATGTCTGTGGAGGCGGCTGGTGGCAGCCTTCATTCCCTTCTGCAGGGCCCTCGCCAGCCCCTCCCTACCCTTCAAGAACCCCCACCCCAGCTTC... | GAACCTGTGATGTGGGGACATTTGGTTTTCTTGCAGATCATTTAATGAATCCTCAAGGACTAATGAAATAAATGCTAGACTGCTGAAGATGAGTACAAGTGGCATTCTGGGTGCCAGCTGCTTTCTTCTTTTGAAAACAAGGCCATGGGGACCCATGGGCACAGTGTATATGCCTTCTGGCAGGAGAGGACTGATGGAGGAATGATGTGGGTGTGTGGCCATTCCCATGTCTGTGGAGGCGGCTGGTGGCAGCCTTCATTCCCTTCTGCAGGGCCCTCGCCAGCCCCTCCCTACCCTTCAAGAACCCCCACCCCAGCTTC... | pathogenic | 29,411 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 2, position 26192310, gene HADHA. What disease(s) is it linked to if pathogenic? | pathogenic; ['Long_chain_3-hydroxyacyl-CoA_dehydrogenase_deficiency', 'Mitochondrial_trifunctional_protein_deficiency'] | GATGGGACTGGAATTACGATTCCGCACACACTCAGCGTGGATCCTTCTGCCAGACCCAGTTAGCCCCAGTGCTGTTTACCCAGACTGGGCACTGCTTCTGTAGGAACTTTCCATCCCAGGGGGTGGGGTGGGGAGGGGCTGAAGCTTTGGGGGAGTGCAGGTGCTGTGGGGGTCAGCACTCCTCATGCTGCTCCCGTGCTGCCTGATTACCGCACAGGCATTTCTGGGGCAGCCCTGCTATGCAGGATCTCCGAACATCAAGGGAGATGTCAGCGCCTCTGCTTAGCACCAACGTTCCCACAACCATCCCAAGAAGCACC... | GATGGGACTGGAATTACGATTCCGCACACACTCAGCGTGGATCCTTCTGCCAGACCCAGTTAGCCCCAGTGCTGTTTACCCAGACTGGGCACTGCTTCTGTAGGAACTTTCCATCCCAGGGGGTGGGGTGGGGAGGGGCTGAAGCTTTGGGGGAGTGCAGGTGCTGTGGGGGTCAGCACTCCTCATGCTGCTCCCGTGCTGCCTGATTACCGCACAGGCATTTCTGGGGCAGCCCTGCTATGCAGGATCTCCGAACATCAAGGGAGATGTCAGCGCCTCTGCTTAGCACCAACGTTCCCACAACCATCCCAAGAAGCACC... | pathogenic | 29,418 |
For chromosome 2, position 26192342, gene HADHA: benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Long_chain_3-hydroxyacyl-CoA_dehydrogenase_deficiency', 'Mitochondrial_trifunctional_protein_deficiency'] | CAGCGTGGATCCTTCTGCCAGACCCAGTTAGCCCCAGTGCTGTTTACCCAGACTGGGCACTGCTTCTGTAGGAACTTTCCATCCCAGGGGGTGGGGTGGGGAGGGGCTGAAGCTTTGGGGGAGTGCAGGTGCTGTGGGGGTCAGCACTCCTCATGCTGCTCCCGTGCTGCCTGATTACCGCACAGGCATTTCTGGGGCAGCCCTGCTATGCAGGATCTCCGAACATCAAGGGAGATGTCAGCGCCTCTGCTTAGCACCAACGTTCCCACAACCATCCCAAGAAGCACCTATGAATGAGGCACACCCAGAAAAGAAATGGG... | CAGCGTGGATCCTTCTGCCAGACCCAGTTAGCCCCAGTGCTGTTTACCCAGACTGGGCACTGCTTCTGTAGGAACTTTCCATCCCAGGGGGTGGGGTGGGGAGGGGCTGAAGCTTTGGGGGAGTGCAGGTGCTGTGGGGGTCAGCACTCCTCATGCTGCTCCCGTGCTGCCTGATTACCGCACAGGCATTTCTGGGGCAGCCCTGCTATGCAGGATCTCCGAACATCAAGGGAGATGTCAGCGCCTCTGCTTAGCACCAACGTTCCCACAACCATCCCAAGAAGCACCTATGAATGAGGCACACCCAGAAAAGAAATGGG... | pathogenic | 29,420 |
Is the genetic mutation found on chromosome 2 at position 26192390, within the gene HADHA, considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Long_chain_3-hydroxyacyl-CoA_dehydrogenase_deficiency', 'Mitochondrial_trifunctional_protein_deficiency', 'Mitochondrial_trifunctional_protein_deficiency_1'] | CAGACTGGGCACTGCTTCTGTAGGAACTTTCCATCCCAGGGGGTGGGGTGGGGAGGGGCTGAAGCTTTGGGGGAGTGCAGGTGCTGTGGGGGTCAGCACTCCTCATGCTGCTCCCGTGCTGCCTGATTACCGCACAGGCATTTCTGGGGCAGCCCTGCTATGCAGGATCTCCGAACATCAAGGGAGATGTCAGCGCCTCTGCTTAGCACCAACGTTCCCACAACCATCCCAAGAAGCACCTATGAATGAGGCACACCCAGAAAAGAAATGGGTAAGATCACACAATGAGGAAATCCAGGCTGGGGAAAGAGGTTTAATAT... | CAGACTGGGCACTGCTTCTGTAGGAACTTTCCATCCCAGGGGGTGGGGTGGGGAGGGGCTGAAGCTTTGGGGGAGTGCAGGTGCTGTGGGGGTCAGCACTCCTCATGCTGCTCCCGTGCTGCCTGATTACCGCACAGGCATTTCTGGGGCAGCCCTGCTATGCAGGATCTCCGAACATCAAGGGAGATGTCAGCGCCTCTGCTTAGCACCAACGTTCCCACAACCATCCCAAGAAGCACCTATGAATGAGGCACACCCAGAAAAGAAATGGGTAAGATCACACAATGAGGAAATCCAGGCTGGGGAAAGAGGTTTAATAT... | pathogenic | 29,421 |
Regarding the variant at chromosome 2 and position 26192391, affecting gene HADHA: benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Long_chain_3-hydroxyacyl-CoA_dehydrogenase_deficiency', 'Mitochondrial_trifunctional_protein_deficiency'] | AGACTGGGCACTGCTTCTGTAGGAACTTTCCATCCCAGGGGGTGGGGTGGGGAGGGGCTGAAGCTTTGGGGGAGTGCAGGTGCTGTGGGGGTCAGCACTCCTCATGCTGCTCCCGTGCTGCCTGATTACCGCACAGGCATTTCTGGGGCAGCCCTGCTATGCAGGATCTCCGAACATCAAGGGAGATGTCAGCGCCTCTGCTTAGCACCAACGTTCCCACAACCATCCCAAGAAGCACCTATGAATGAGGCACACCCAGAAAAGAAATGGGTAAGATCACACAATGAGGAAATCCAGGCTGGGGAAAGAGGTTTAATATC... | AGACTGGGCACTGCTTCTGTAGGAACTTTCCATCCCAGGGGGTGGGGTGGGGAGGGGCTGAAGCTTTGGGGGAGTGCAGGTGCTGTGGGGGTCAGCACTCCTCATGCTGCTCCCGTGCTGCCTGATTACCGCACAGGCATTTCTGGGGCAGCCCTGCTATGCAGGATCTCCGAACATCAAGGGAGATGTCAGCGCCTCTGCTTAGCACCAACGTTCCCACAACCATCCCAAGAAGCACCTATGAATGAGGCACACCCAGAAAAGAAATGGGTAAGATCACACAATGAGGAAATCCAGGCTGGGGAAAGAGGTTTAATATC... | pathogenic | 29,422 |
Clinical classification of chromosome 2, position 26192416, gene HADHA: benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Long_chain_3-hydroxyacyl-CoA_dehydrogenase_deficiency', 'Mitochondrial_trifunctional_protein_deficiency'] | CTTTCCATCCCAGGGGGTGGGGTGGGGAGGGGCTGAAGCTTTGGGGGAGTGCAGGTGCTGTGGGGGTCAGCACTCCTCATGCTGCTCCCGTGCTGCCTGATTACCGCACAGGCATTTCTGGGGCAGCCCTGCTATGCAGGATCTCCGAACATCAAGGGAGATGTCAGCGCCTCTGCTTAGCACCAACGTTCCCACAACCATCCCAAGAAGCACCTATGAATGAGGCACACCCAGAAAAGAAATGGGTAAGATCACACAATGAGGAAATCCAGGCTGGGGAAAGAGGTTTAATATCCCGGTACACCGTGGTGAGAAGCCTG... | CTTTCCATCCCAGGGGGTGGGGTGGGGAGGGGCTGAAGCTTTGGGGGAGTGCAGGTGCTGTGGGGGTCAGCACTCCTCATGCTGCTCCCGTGCTGCCTGATTACCGCACAGGCATTTCTGGGGCAGCCCTGCTATGCAGGATCTCCGAACATCAAGGGAGATGTCAGCGCCTCTGCTTAGCACCAACGTTCCCACAACCATCCCAAGAAGCACCTATGAATGAGGCACACCCAGAAAAGAAATGGGTAAGATCACACAATGAGGAAATCCAGGCTGGGGAAAGAGGTTTAATATCCCGGTACACCGTGGTGAGAAGCCTG... | pathogenic | 29,424 |
Clinical classification of chromosome 2, position 26193617, gene HADHA: benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Long_chain_3-hydroxyacyl-CoA_dehydrogenase_deficiency', 'Mitochondrial_trifunctional_protein_deficiency'] | ATGACTGCCTCATTCACAAATCTTGTCACCAGGCGGAACTGGATGTCTTCGTCTGATGAGCTGCCAACAGAAAGAGATGTTTAGGTAGAAGAAGAGGAAAAGGGGAGGAAAGCCAGAGCCGCAGATGCAGAATGGAAGTCGGGATGGGTGCATGGGGAGCTCTGTGGGCCGGTTGGTGCTGGCCCTCAGAGAAGATGCTGCCTGGGTGAACCAAACTTTCCCATGGAAAAAGTGGAGAGTAACTTGCCCTAATTAACATGAAACTGAGCACCTAGAACAGGGCCTGGTGCCGAGAAGATAATCAGTATCTCTTTGACATC... | ATGACTGCCTCATTCACAAATCTTGTCACCAGGCGGAACTGGATGTCTTCGTCTGATGAGCTGCCAACAGAAAGAGATGTTTAGGTAGAAGAAGAGGAAAAGGGGAGGAAAGCCAGAGCCGCAGATGCAGAATGGAAGTCGGGATGGGTGCATGGGGAGCTCTGTGGGCCGGTTGGTGCTGGCCCTCAGAGAAGATGCTGCCTGGGTGAACCAAACTTTCCCATGGAAAAAGTGGAGAGTAACTTGCCCTAATTAACATGAAACTGAGCACCTAGAACAGGGCCTGGTGCCGAGAAGATAATCAGTATCTCTTTGACATC... | pathogenic | 29,430 |
A genetic alteration at chromosome 2, position 26193646, in gene HADHA—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Long_chain_3-hydroxyacyl-CoA_dehydrogenase_deficiency'] | CAGGCGGAACTGGATGTCTTCGTCTGATGAGCTGCCAACAGAAAGAGATGTTTAGGTAGAAGAAGAGGAAAAGGGGAGGAAAGCCAGAGCCGCAGATGCAGAATGGAAGTCGGGATGGGTGCATGGGGAGCTCTGTGGGCCGGTTGGTGCTGGCCCTCAGAGAAGATGCTGCCTGGGTGAACCAAACTTTCCCATGGAAAAAGTGGAGAGTAACTTGCCCTAATTAACATGAAACTGAGCACCTAGAACAGGGCCTGGTGCCGAGAAGATAATCAGTATCTCTTTGACATCAGCAACAGTCAGCTGCTCACAAATGATAA... | CAGGCGGAACTGGATGTCTTCGTCTGATGAGCTGCCAACAGAAAGAGATGTTTAGGTAGAAGAAGAGGAAAAGGGGAGGAAAGCCAGAGCCGCAGATGCAGAATGGAAGTCGGGATGGGTGCATGGGGAGCTCTGTGGGCCGGTTGGTGCTGGCCCTCAGAGAAGATGCTGCCTGGGTGAACCAAACTTTCCCATGGAAAAAGTGGAGAGTAACTTGCCCTAATTAACATGAAACTGAGCACCTAGAACAGGGCCTGGTGCCGAGAAGATAATCAGTATCTCTTTGACATCAGCAACAGTCAGCTGCTCACAAATGATAA... | pathogenic | 29,433 |
Is chromosome 2, position 26193650, gene HADHA variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Long_chain_3-hydroxyacyl-CoA_dehydrogenase_deficiency', 'Mitochondrial_trifunctional_protein_deficiency'] | CGGAACTGGATGTCTTCGTCTGATGAGCTGCCAACAGAAAGAGATGTTTAGGTAGAAGAAGAGGAAAAGGGGAGGAAAGCCAGAGCCGCAGATGCAGAATGGAAGTCGGGATGGGTGCATGGGGAGCTCTGTGGGCCGGTTGGTGCTGGCCCTCAGAGAAGATGCTGCCTGGGTGAACCAAACTTTCCCATGGAAAAAGTGGAGAGTAACTTGCCCTAATTAACATGAAACTGAGCACCTAGAACAGGGCCTGGTGCCGAGAAGATAATCAGTATCTCTTTGACATCAGCAACAGTCAGCTGCTCACAAATGATAATAAA... | CGGAACTGGATGTCTTCGTCTGATGAGCTGCCAACAGAAAGAGATGTTTAGGTAGAAGAAGAGGAAAAGGGGAGGAAAGCCAGAGCCGCAGATGCAGAATGGAAGTCGGGATGGGTGCATGGGGAGCTCTGTGGGCCGGTTGGTGCTGGCCCTCAGAGAAGATGCTGCCTGGGTGAACCAAACTTTCCCATGGAAAAAGTGGAGAGTAACTTGCCCTAATTAACATGAAACTGAGCACCTAGAACAGGGCCTGGTGCCGAGAAGATAATCAGTATCTCTTTGACATCAGCAACAGTCAGCTGCTCACAAATGATAATAAA... | pathogenic | 29,434 |
Mutation found at chromosome 2 position 26193667, gene HADHA: benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Long_chain_3-hydroxyacyl-CoA_dehydrogenase_deficiency', 'Mitochondrial_trifunctional_protein_deficiency', 'Mitochondrial_trifunctional_protein_deficiency_1'] | GTCTGATGAGCTGCCAACAGAAAGAGATGTTTAGGTAGAAGAAGAGGAAAAGGGGAGGAAAGCCAGAGCCGCAGATGCAGAATGGAAGTCGGGATGGGTGCATGGGGAGCTCTGTGGGCCGGTTGGTGCTGGCCCTCAGAGAAGATGCTGCCTGGGTGAACCAAACTTTCCCATGGAAAAAGTGGAGAGTAACTTGCCCTAATTAACATGAAACTGAGCACCTAGAACAGGGCCTGGTGCCGAGAAGATAATCAGTATCTCTTTGACATCAGCAACAGTCAGCTGCTCACAAATGATAATAAAGATCTGGGAGGGTGAAG... | GTCTGATGAGCTGCCAACAGAAAGAGATGTTTAGGTAGAAGAAGAGGAAAAGGGGAGGAAAGCCAGAGCCGCAGATGCAGAATGGAAGTCGGGATGGGTGCATGGGGAGCTCTGTGGGCCGGTTGGTGCTGGCCCTCAGAGAAGATGCTGCCTGGGTGAACCAAACTTTCCCATGGAAAAAGTGGAGAGTAACTTGCCCTAATTAACATGAAACTGAGCACCTAGAACAGGGCCTGGTGCCGAGAAGATAATCAGTATCTCTTTGACATCAGCAACAGTCAGCTGCTCACAAATGATAATAAAGATCTGGGAGGGTGAAG... | pathogenic | 29,436 |
Is the variant located on chromosome 2 at position 26193701, gene HADHA, benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Long_chain_3-hydroxyacyl-CoA_dehydrogenase_deficiency', 'Mitochondrial_trifunctional_protein_deficiency', 'Mitochondrial_trifunctional_protein_deficiency_1'] | GTAGAAGAAGAGGAAAAGGGGAGGAAAGCCAGAGCCGCAGATGCAGAATGGAAGTCGGGATGGGTGCATGGGGAGCTCTGTGGGCCGGTTGGTGCTGGCCCTCAGAGAAGATGCTGCCTGGGTGAACCAAACTTTCCCATGGAAAAAGTGGAGAGTAACTTGCCCTAATTAACATGAAACTGAGCACCTAGAACAGGGCCTGGTGCCGAGAAGATAATCAGTATCTCTTTGACATCAGCAACAGTCAGCTGCTCACAAATGATAATAAAGATCTGGGAGGGTGAAGGGGCCAAGGAGAATCTGTCCTTCCAGCGGCTCTC... | GTAGAAGAAGAGGAAAAGGGGAGGAAAGCCAGAGCCGCAGATGCAGAATGGAAGTCGGGATGGGTGCATGGGGAGCTCTGTGGGCCGGTTGGTGCTGGCCCTCAGAGAAGATGCTGCCTGGGTGAACCAAACTTTCCCATGGAAAAAGTGGAGAGTAACTTGCCCTAATTAACATGAAACTGAGCACCTAGAACAGGGCCTGGTGCCGAGAAGATAATCAGTATCTCTTTGACATCAGCAACAGTCAGCTGCTCACAAATGATAATAAAGATCTGGGAGGGTGAAGGGGCCAAGGAGAATCTGTCCTTCCAGCGGCTCTC... | pathogenic | 29,437 |
Is the variant located on chromosome 2 at position 26193740, gene HADHA, benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Long_chain_3-hydroxyacyl-CoA_dehydrogenase_deficiency', 'Mitochondrial_trifunctional_protein_deficiency'] | GATGCAGAATGGAAGTCGGGATGGGTGCATGGGGAGCTCTGTGGGCCGGTTGGTGCTGGCCCTCAGAGAAGATGCTGCCTGGGTGAACCAAACTTTCCCATGGAAAAAGTGGAGAGTAACTTGCCCTAATTAACATGAAACTGAGCACCTAGAACAGGGCCTGGTGCCGAGAAGATAATCAGTATCTCTTTGACATCAGCAACAGTCAGCTGCTCACAAATGATAATAAAGATCTGGGAGGGTGAAGGGGCCAAGGAGAATCTGTCCTTCCAGCGGCTCTCTGGGAACTTGCCAGAGAAGGCTGGAGCAGGGGAGGGCCT... | GATGCAGAATGGAAGTCGGGATGGGTGCATGGGGAGCTCTGTGGGCCGGTTGGTGCTGGCCCTCAGAGAAGATGCTGCCTGGGTGAACCAAACTTTCCCATGGAAAAAGTGGAGAGTAACTTGCCCTAATTAACATGAAACTGAGCACCTAGAACAGGGCCTGGTGCCGAGAAGATAATCAGTATCTCTTTGACATCAGCAACAGTCAGCTGCTCACAAATGATAATAAAGATCTGGGAGGGTGAAGGGGCCAAGGAGAATCTGTCCTTCCAGCGGCTCTCTGGGAACTTGCCAGAGAAGGCTGGAGCAGGGGAGGGCCT... | pathogenic | 29,438 |
Determine whether the variant at chromosome 2, position 26194614, in gene HADHA is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Long_chain_3-hydroxyacyl-CoA_dehydrogenase_deficiency', 'Mitochondrial_trifunctional_protein_deficiency'] | ATTTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCGAAGCAGGAGGATCGCTTGAACCCGGGAGGTGGAGACGAGATTATGCCACTGCACTCCAGCCTGGGCAACAGTGTGAGACTCTGTCTCAAAAAAAAACAAAAAACAAACAAAAAAGACCCTGACCTGAGAATTCTTGTCTCTGTTGGTCTATTATAAAGCTCTGGCCTCTTCTGAATTCCTGAATTTGTATGTCTAGCTAACCCTAGCAAATTAGTCTTTGTCAGAAGAGTGGGCAGAG... | ATTTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCGAAGCAGGAGGATCGCTTGAACCCGGGAGGTGGAGACGAGATTATGCCACTGCACTCCAGCCTGGGCAACAGTGTGAGACTCTGTCTCAAAAAAAAACAAAAAACAAACAAAAAAGACCCTGACCTGAGAATTCTTGTCTCTGTTGGTCTATTATAAAGCTCTGGCCTCTTCTGAATTCCTGAATTTGTATGTCTAGCTAACCCTAGCAAATTAGTCTTTGTCAGAAGAGTGGGCAGAG... | pathogenic | 29,447 |
Is the genetic change at chromosome 2, position 26195070, within gene HADHA benign or pathogenic? Name the disease(s) if pathogenic. | benign | TTTGCCAAGACAGAAAGTCACTTCTCTGTGGGCCTCAACTGTATACTGTGTATGGTGAGCTTATACATTCTCCTCACAGGTGGCCAGACAGCATGGTAAAGCCCGGATGCAGAGCTTGCTTCTGCACTATTGCAGATTTCATCTCTGGGGGATAAAAATGCTTGTCCATCTGGCATAACTTGGACCAGGTGATGCTAGAGCCCCAGAAGGGTAGAACTCTGCCTTTTGTCCATAATCTATAGTCCTAGCCCTTAGAAGGTTCACATGACATCTTTTTTTTTTTTTTTTTTTGAGAAGGGGCCTCGCCATGTTGCCCAGGC... | TTTGCCAAGACAGAAAGTCACTTCTCTGTGGGCCTCAACTGTATACTGTGTATGGTGAGCTTATACATTCTCCTCACAGGTGGCCAGACAGCATGGTAAAGCCCGGATGCAGAGCTTGCTTCTGCACTATTGCAGATTTCATCTCTGGGGGATAAAAATGCTTGTCCATCTGGCATAACTTGGACCAGGTGATGCTAGAGCCCCAGAAGGGTAGAACTCTGCCTTTTGTCCATAATCTATAGTCCTAGCCCTTAGAAGGTTCACATGACATCTTTTTTTTTTTTTTTTTTTGAGAAGGGGCCTCGCCATGTTGCCCAGGC... | benign | 29,452 |
Does the variant on chromosome 2 at location 26195085 affecting gene HADHA have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Long_chain_3-hydroxyacyl-CoA_dehydrogenase_deficiency', 'Mitochondrial_trifunctional_protein_deficiency', 'Mitochondrial_trifunctional_protein_deficiency_1'] | AGTCACTTCTCTGTGGGCCTCAACTGTATACTGTGTATGGTGAGCTTATACATTCTCCTCACAGGTGGCCAGACAGCATGGTAAAGCCCGGATGCAGAGCTTGCTTCTGCACTATTGCAGATTTCATCTCTGGGGGATAAAAATGCTTGTCCATCTGGCATAACTTGGACCAGGTGATGCTAGAGCCCCAGAAGGGTAGAACTCTGCCTTTTGTCCATAATCTATAGTCCTAGCCCTTAGAAGGTTCACATGACATCTTTTTTTTTTTTTTTTTTTGAGAAGGGGCCTCGCCATGTTGCCCAGGCTGGCCTCACACTTCT... | AGTCACTTCTCTGTGGGCCTCAACTGTATACTGTGTATGGTGAGCTTATACATTCTCCTCACAGGTGGCCAGACAGCATGGTAAAGCCCGGATGCAGAGCTTGCTTCTGCACTATTGCAGATTTCATCTCTGGGGGATAAAAATGCTTGTCCATCTGGCATAACTTGGACCAGGTGATGCTAGAGCCCCAGAAGGGTAGAACTCTGCCTTTTGTCCATAATCTATAGTCCTAGCCCTTAGAAGGTTCACATGACATCTTTTTTTTTTTTTTTTTTTGAGAAGGGGCCTCGCCATGTTGCCCAGGCTGGCCTCACACTTCT... | pathogenic | 29,455 |
Regarding the variant at chromosome 2 and position 26195121, affecting gene HADHA: benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Long_chain_3-hydroxyacyl-CoA_dehydrogenase_deficiency', 'Mitochondrial_trifunctional_protein_deficiency'] | ATGGTGAGCTTATACATTCTCCTCACAGGTGGCCAGACAGCATGGTAAAGCCCGGATGCAGAGCTTGCTTCTGCACTATTGCAGATTTCATCTCTGGGGGATAAAAATGCTTGTCCATCTGGCATAACTTGGACCAGGTGATGCTAGAGCCCCAGAAGGGTAGAACTCTGCCTTTTGTCCATAATCTATAGTCCTAGCCCTTAGAAGGTTCACATGACATCTTTTTTTTTTTTTTTTTTTGAGAAGGGGCCTCGCCATGTTGCCCAGGCTGGCCTCACACTTCTGGGCTCAAGCGATCCTCCCACCTCAGCCTCCTAAGC... | ATGGTGAGCTTATACATTCTCCTCACAGGTGGCCAGACAGCATGGTAAAGCCCGGATGCAGAGCTTGCTTCTGCACTATTGCAGATTTCATCTCTGGGGGATAAAAATGCTTGTCCATCTGGCATAACTTGGACCAGGTGATGCTAGAGCCCCAGAAGGGTAGAACTCTGCCTTTTGTCCATAATCTATAGTCCTAGCCCTTAGAAGGTTCACATGACATCTTTTTTTTTTTTTTTTTTTGAGAAGGGGCCTCGCCATGTTGCCCAGGCTGGCCTCACACTTCTGGGCTCAAGCGATCCTCCCACCTCAGCCTCCTAAGC... | pathogenic | 29,456 |
For chromosome 2, position 26195162, gene HADHA: benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Long_chain_3-hydroxyacyl-CoA_dehydrogenase_deficiency', 'Mitochondrial_trifunctional_protein_deficiency'] | ATGGTAAAGCCCGGATGCAGAGCTTGCTTCTGCACTATTGCAGATTTCATCTCTGGGGGATAAAAATGCTTGTCCATCTGGCATAACTTGGACCAGGTGATGCTAGAGCCCCAGAAGGGTAGAACTCTGCCTTTTGTCCATAATCTATAGTCCTAGCCCTTAGAAGGTTCACATGACATCTTTTTTTTTTTTTTTTTTTGAGAAGGGGCCTCGCCATGTTGCCCAGGCTGGCCTCACACTTCTGGGCTCAAGCGATCCTCCCACCTCAGCCTCCTAAGCAGCTAAGACCATAAGTGGTTGCTACCGCACCTGACTCATAA... | ATGGTAAAGCCCGGATGCAGAGCTTGCTTCTGCACTATTGCAGATTTCATCTCTGGGGGATAAAAATGCTTGTCCATCTGGCATAACTTGGACCAGGTGATGCTAGAGCCCCAGAAGGGTAGAACTCTGCCTTTTGTCCATAATCTATAGTCCTAGCCCTTAGAAGGTTCACATGACATCTTTTTTTTTTTTTTTTTTTGAGAAGGGGCCTCGCCATGTTGCCCAGGCTGGCCTCACACTTCTGGGCTCAAGCGATCCTCCCACCTCAGCCTCCTAAGCAGCTAAGACCATAAGTGGTTGCTACCGCACCTGACTCATAA... | pathogenic | 29,457 |
Determine whether the variant at chromosome 2, position 26197737, in gene HADHA is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Long_chain_3-hydroxyacyl-CoA_dehydrogenase_deficiency', 'Mitochondrial_trifunctional_protein_deficiency'] | GGTTTAACTAACACTCCTCAACAGTCAGATGCACTTAAGACTCATTAAACCAGCAGTTCTCCAAGTGTAGTACCCGGACCCAACAAGCACTGTCATCACCTGGGAGCGTTAGGCCTGCACATTCTCAGGCCTAGCCCAGCCCTACTGAATCAGAAACTCCATGGGTGGGGCCCAGATTTGTTTTAATAATCCCTCCTGGTGATTCTGATGCGTGCTAAGGTTTCAGAGAAACCCCTCATTGAGCTAACAGTTACATAGTCTTCCCAACAGAACTGTGGTGAAAGAAGTCTAATTCATTAATTTATAGTTTTGCTTTCTCC... | GGTTTAACTAACACTCCTCAACAGTCAGATGCACTTAAGACTCATTAAACCAGCAGTTCTCCAAGTGTAGTACCCGGACCCAACAAGCACTGTCATCACCTGGGAGCGTTAGGCCTGCACATTCTCAGGCCTAGCCCAGCCCTACTGAATCAGAAACTCCATGGGTGGGGCCCAGATTTGTTTTAATAATCCCTCCTGGTGATTCTGATGCGTGCTAAGGTTTCAGAGAAACCCCTCATTGAGCTAACAGTTACATAGTCTTCCCAACAGAACTGTGGTGAAAGAAGTCTAATTCATTAATTTATAGTTTTGCTTTCTCC... | pathogenic | 29,460 |
Evaluate this variant at chromosome 2, position 26204114, gene HADHA: benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Long_chain_3-hydroxyacyl-CoA_dehydrogenase_deficiency', 'Mitochondrial_trifunctional_protein_deficiency'] | TGGGATTATAGGCGTGAGCCACCGCGCCCAGCCTGTGGTTGTAATCTTCTAAAGAACAGAGACCAAGCATTATTTCCTATATTCTCCATCTACTTCCCACTCATTACCTAGTAGCACATTGCACTGATTACATAAAATATTAACTCAAGGTTTCTTTTTTCCCATAGGGAGCAGAAAAGGATTCCTGTTATTCAGACATTCAACTGATTATTTTTCGTCGCCAAGGGAAACAGGTTCTCTTAGATTCCGTCTGACCACACTTTCAGAATAAATTACCTACAGTTTTCCTCTAAATGAAGAATGAAGCTAAACCCCATTCA... | TGGGATTATAGGCGTGAGCCACCGCGCCCAGCCTGTGGTTGTAATCTTCTAAAGAACAGAGACCAAGCATTATTTCCTATATTCTCCATCTACTTCCCACTCATTACCTAGTAGCACATTGCACTGATTACATAAAATATTAACTCAAGGTTTCTTTTTTCCCATAGGGAGCAGAAAAGGATTCCTGTTATTCAGACATTCAACTGATTATTTTTCGTCGCCAAGGGAAACAGGTTCTCTTAGATTCCGTCTGACCACACTTTCAGAATAAATTACCTACAGTTTTCCTCTAAATGAAGAATGAAGCTAAACCCCATTCA... | pathogenic | 29,469 |
For chromosome 2, position 26204129, gene HADHA: benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Long_chain_3-hydroxyacyl-CoA_dehydrogenase_deficiency', 'Mitochondrial_trifunctional_protein_deficiency'] | GAGCCACCGCGCCCAGCCTGTGGTTGTAATCTTCTAAAGAACAGAGACCAAGCATTATTTCCTATATTCTCCATCTACTTCCCACTCATTACCTAGTAGCACATTGCACTGATTACATAAAATATTAACTCAAGGTTTCTTTTTTCCCATAGGGAGCAGAAAAGGATTCCTGTTATTCAGACATTCAACTGATTATTTTTCGTCGCCAAGGGAAACAGGTTCTCTTAGATTCCGTCTGACCACACTTTCAGAATAAATTACCTACAGTTTTCCTCTAAATGAAGAATGAAGCTAAACCCCATTCACTAATTTCCTTAACC... | GAGCCACCGCGCCCAGCCTGTGGTTGTAATCTTCTAAAGAACAGAGACCAAGCATTATTTCCTATATTCTCCATCTACTTCCCACTCATTACCTAGTAGCACATTGCACTGATTACATAAAATATTAACTCAAGGTTTCTTTTTTCCCATAGGGAGCAGAAAAGGATTCCTGTTATTCAGACATTCAACTGATTATTTTTCGTCGCCAAGGGAAACAGGTTCTCTTAGATTCCGTCTGACCACACTTTCAGAATAAATTACCTACAGTTTTCCTCTAAATGAAGAATGAAGCTAAACCCCATTCACTAATTTCCTTAACC... | pathogenic | 29,471 |
Regarding the variant at chromosome 2 and position 26204153, affecting gene HADHA: benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Long_chain_3-hydroxyacyl-CoA_dehydrogenase_deficiency', 'Mitochondrial_trifunctional_protein_deficiency', 'Mitochondrial_trifunctional_protein_deficiency_1'] | TGTAATCTTCTAAAGAACAGAGACCAAGCATTATTTCCTATATTCTCCATCTACTTCCCACTCATTACCTAGTAGCACATTGCACTGATTACATAAAATATTAACTCAAGGTTTCTTTTTTCCCATAGGGAGCAGAAAAGGATTCCTGTTATTCAGACATTCAACTGATTATTTTTCGTCGCCAAGGGAAACAGGTTCTCTTAGATTCCGTCTGACCACACTTTCAGAATAAATTACCTACAGTTTTCCTCTAAATGAAGAATGAAGCTAAACCCCATTCACTAATTTCCTTAACCAAAAGCAAAATTAAGGCCACAAGA... | TGTAATCTTCTAAAGAACAGAGACCAAGCATTATTTCCTATATTCTCCATCTACTTCCCACTCATTACCTAGTAGCACATTGCACTGATTACATAAAATATTAACTCAAGGTTTCTTTTTTCCCATAGGGAGCAGAAAAGGATTCCTGTTATTCAGACATTCAACTGATTATTTTTCGTCGCCAAGGGAAACAGGTTCTCTTAGATTCCGTCTGACCACACTTTCAGAATAAATTACCTACAGTTTTCCTCTAAATGAAGAATGAAGCTAAACCCCATTCACTAATTTCCTTAACCAAAAGCAAAATTAAGGCCACAAGA... | pathogenic | 29,473 |
Variant in HADHA, chromosome 2, position 26204189—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Long_chain_3-hydroxyacyl-CoA_dehydrogenase_deficiency', 'Mitochondrial_trifunctional_protein_deficiency'] | CCTATATTCTCCATCTACTTCCCACTCATTACCTAGTAGCACATTGCACTGATTACATAAAATATTAACTCAAGGTTTCTTTTTTCCCATAGGGAGCAGAAAAGGATTCCTGTTATTCAGACATTCAACTGATTATTTTTCGTCGCCAAGGGAAACAGGTTCTCTTAGATTCCGTCTGACCACACTTTCAGAATAAATTACCTACAGTTTTCCTCTAAATGAAGAATGAAGCTAAACCCCATTCACTAATTTCCTTAACCAAAAGCAAAATTAAGGCCACAAGATAAATACAAAGGAGTATTCAAAGAAGGTCTTAAGGG... | CCTATATTCTCCATCTACTTCCCACTCATTACCTAGTAGCACATTGCACTGATTACATAAAATATTAACTCAAGGTTTCTTTTTTCCCATAGGGAGCAGAAAAGGATTCCTGTTATTCAGACATTCAACTGATTATTTTTCGTCGCCAAGGGAAACAGGTTCTCTTAGATTCCGTCTGACCACACTTTCAGAATAAATTACCTACAGTTTTCCTCTAAATGAAGAATGAAGCTAAACCCCATTCACTAATTTCCTTAACCAAAAGCAAAATTAAGGCCACAAGATAAATACAAAGGAGTATTCAAAGAAGGTCTTAAGGG... | pathogenic | 29,474 |
Variant at chromosome 2, position 26209805, gene HADHA (hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Long_chain_3-hydroxyacyl-CoA_dehydrogenase_deficiency', 'Mitochondrial_trifunctional_protein_deficiency'] | TAATTTGTAGCTCAGTATTTTTTTTCATAAGTACTGCTCTTCACTTATTAGAACTGATGGAATGCGTTATTCATATGAAAGATTAATTTGTAAAGAGACAATAGATAAGGAATTCCAGTTATCATCCAAGGCAAGGGGGAAGGGGCCTAGAGAAATAATAGTGGAAGAATTACTGATAACTGGGAAAGCAGGAAGGGGGACACCCTATCTACAATGTTCATTATTCAATTTTCAGTTTAACATATTTTGCCTTGGGTATCTTATAGCTTATTCTTCATTTCTAAGATGATGCTAACTTTTTCTTCAATGTCTTTCCCAAG... | TAATTTGTAGCTCAGTATTTTTTTTCATAAGTACTGCTCTTCACTTATTAGAACTGATGGAATGCGTTATTCATATGAAAGATTAATTTGTAAAGAGACAATAGATAAGGAATTCCAGTTATCATCCAAGGCAAGGGGGAAGGGGCCTAGAGAAATAATAGTGGAAGAATTACTGATAACTGGGAAAGCAGGAAGGGGGACACCCTATCTACAATGTTCATTATTCAATTTTCAGTTTAACATATTTTGCCTTGGGTATCTTATAGCTTATTCTTCATTTCTAAGATGATGCTAACTTTTTCTTCAATGTCTTTCCCAAG... | pathogenic | 29,478 |
For chromosome 2, position 26212577, gene HADHA (hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Long_chain_3-hydroxyacyl-CoA_dehydrogenase_deficiency', 'Mitochondrial_trifunctional_protein_deficiency'] | AGAGATGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCTGCCCGCCTTGGCCTTCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCTCGCCTCGAACTCCGGTTCTTTTTCCACTGTAGCAGGCTGCCCACGTGGGACTTACCACTTTTAAAAGTAGCTTAATTTATGGAGAAAAAGTCTCAACTTGGTGGTTAAAGGCATAATATCTAGGATTTGACAGATCCTGTCTCTGCCACTGCCCCATTGTGAAGCTTTCTTCATCCTTAAAAATGGGAAAAACAATACCCATTTTACAG... | AGAGATGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCTGCCCGCCTTGGCCTTCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCTCGCCTCGAACTCCGGTTCTTTTTCCACTGTAGCAGGCTGCCCACGTGGGACTTACCACTTTTAAAAGTAGCTTAATTTATGGAGAAAAAGTCTCAACTTGGTGGTTAAAGGCATAATATCTAGGATTTGACAGATCCTGTCTCTGCCACTGCCCCATTGTGAAGCTTTCTTCATCCTTAAAAATGGGAAAAACAATACCCATTTTACAG... | pathogenic | 29,480 |
Is the genetic change at chromosome 2, position 26214516, within gene HADHA (hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Long_chain_3-hydroxyacyl-CoA_dehydrogenase_deficiency', 'Mitochondrial_trifunctional_protein_deficiency'] | CTAGGCTTTGGATATTTTTTTCCTTTTTCAGCTTTATACAGAGGATTGGATCTTTAGTTTTCCTTTAACTGATAATAAAACATTGAAAGGAAATAAGTTTACCTGAGATTCACAGAGATAACCGGCATCACTCCCTTGCTCAATTCCAGTCTTTACCACCTAAAAAACATATAAAGCACTTGCTCAGCGTTGGAATAGATTGGCGAGATGTACAATAATGCTGAATAAAATTGCCAGTGTTGTTAGTCCTCAAAGAGTAAGTCAAAAGTCTAGACTGGAATGAGAAAGAGAAGAGGACTGAGGATCTGGCTGCTCTCGAC... | CTAGGCTTTGGATATTTTTTTCCTTTTTCAGCTTTATACAGAGGATTGGATCTTTAGTTTTCCTTTAACTGATAATAAAACATTGAAAGGAAATAAGTTTACCTGAGATTCACAGAGATAACCGGCATCACTCCCTTGCTCAATTCCAGTCTTTACCACCTAAAAAACATATAAAGCACTTGCTCAGCGTTGGAATAGATTGGCGAGATGTACAATAATGCTGAATAAAATTGCCAGTGTTGTTAGTCCTCAAAGAGTAAGTCAAAAGTCTAGACTGGAATGAGAAAGAGAAGAGGACTGAGGATCTGGCTGCTCTCGAC... | pathogenic | 29,488 |
The mutation in gene HADHA (hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha) at chromosome 2, position 26215087—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Long_chain_3-hydroxyacyl-CoA_dehydrogenase_deficiency', 'Mitochondrial_trifunctional_protein_deficiency', 'Mitochondrial_trifunctional_protein_deficiency_1'] | GGCAAATATAAAAGATGAAAAAAATAACCCTGTACTTACTCACTATCATAATTTATGAGAATGACAAATTTTTAGAAATAAGCAAATTGACATCTCTAACTCTGACTTCTCTGTCTAAACTACTGTTGCTTGAATTTCCCAAAATATCTGAACTCAATATATCTGAACCTAACTCATAACCTCTCTTTGGCAAGCCTGTTGCTGCTTTCCTATTTTTACTATTCTATCTCAGGGCCTTATTCAAAGCTCAAGCCTGGATTATCAGGACAGTTTTGCTAATTCACTGCTCTACTTTGTCTCTCCTTCGAAACCATTTTTAC... | GGCAAATATAAAAGATGAAAAAAATAACCCTGTACTTACTCACTATCATAATTTATGAGAATGACAAATTTTTAGAAATAAGCAAATTGACATCTCTAACTCTGACTTCTCTGTCTAAACTACTGTTGCTTGAATTTCCCAAAATATCTGAACTCAATATATCTGAACCTAACTCATAACCTCTCTTTGGCAAGCCTGTTGCTGCTTTCCTATTTTTACTATTCTATCTCAGGGCCTTATTCAAAGCTCAAGCCTGGATTATCAGGACAGTTTTGCTAATTCACTGCTCTACTTTGTCTCTCCTTCGAAACCATTTTTAC... | pathogenic | 29,495 |
Chromosome 2, position 26232151, gene HADHA (hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | benign | GTGAGCCACCGTGCCTGGCCTAAGAGGTTAACTCTTTAAGAAAATAAGTAACTTTATAAGGTCTGACTCTGAGATGTGCTAACACTTACCCAGGGGTTCCACCAGTTGGTCAACCAGTCCCATTTTCTTTGCCCTGTCTGCACGAATGCTTCTACCAGTCAGCATCATGTCCAAAGCAGCAGGCACACCCACCTAACAGGCAAGCAAGGATGAGAATATAGGGGGAAAAAAATCAGGGTGATAATTATATAGTTTACAAATCATCAAATGAACAAATATTAAAATGAGAAAAGTCAAGCCATATGTTTATGCTATTTGTC... | GTGAGCCACCGTGCCTGGCCTAAGAGGTTAACTCTTTAAGAAAATAAGTAACTTTATAAGGTCTGACTCTGAGATGTGCTAACACTTACCCAGGGGTTCCACCAGTTGGTCAACCAGTCCCATTTTCTTTGCCCTGTCTGCACGAATGCTTCTACCAGTCAGCATCATGTCCAAAGCAGCAGGCACACCCACCTAACAGGCAAGCAAGGATGAGAATATAGGGGGAAAAAAATCAGGGTGATAATTATATAGTTTACAAATCATCAAATGAACAAATATTAAAATGAGAAAAGTCAAGCCATATGTTTATGCTATTTGTC... | benign | 29,502 |
The chromosome 2, position 26236890 genetic variant in gene HADHA (hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['HADHA-related_disorder', 'Long_chain_3-hydroxyacyl-CoA_dehydrogenase_deficiency', 'Mitochondrial_trifunctional_protein_deficiency'] | ATTAAATTACAAAGCTTGGTACAAGGGAAAATCATCTTTGGTAAATTACTTCACTATCAGATTAAACATTTCACTATCAGGTAGTTAACAGCAATAAAAATGACGCAAAAGAAAAGCTTCCAGGTTGTTTAGAGAAATCTAAAACATTTTAACAGATCCCACTAATGAATAAAAATGACCAGGTAGGCCAGGCATGGTGGCTCATGCCTGTAATCCCAGCACTTTGAGAGGCCAAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGGCTGGTCAACATGGTGAAACCGCGTCTCTACTAAAAATACAAAAATT... | ATTAAATTACAAAGCTTGGTACAAGGGAAAATCATCTTTGGTAAATTACTTCACTATCAGATTAAACATTTCACTATCAGGTAGTTAACAGCAATAAAAATGACGCAAAAGAAAAGCTTCCAGGTTGTTTAGAGAAATCTAAAACATTTTAACAGATCCCACTAATGAATAAAAATGACCAGGTAGGCCAGGCATGGTGGCTCATGCCTGTAATCCCAGCACTTTGAGAGGCCAAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGGCTGGTCAACATGGTGAAACCGCGTCTCTACTAAAAATACAAAAATT... | pathogenic | 29,515 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 2, position 26238929, gene HADHA (hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha). What disease(s) is it linked to if pathogenic? | pathogenic; ['Long_chain_3-hydroxyacyl-CoA_dehydrogenase_deficiency', 'Mitochondrial_trifunctional_protein_deficiency_1'] | GCCTGGCTTTGATGAGATAAGGACGGCACTTCTGATTTGATCACTAGCCCAGATTTCATTCATAACTTCTGAGAACTCTGAATGTAGCTCTTTACTCAGTGTATTTACCTGCCAAAGGGAAATATATACAGGTAAGGGTTTAAATTTGAAGCACTGGATGTACGTACCACCATCAAATGCTATTTTGATTATAAGAAATATACTTATCCGGCAGAAATATACTGTTAGAAGAGAGTAAGAAATATCATTCTCCCAGCAAGTCAGTAGCTTTCTATTCAGGCAGCTTTGGCCCACTACAAGCACCCCTTCCTTTAAAAATA... | GCCTGGCTTTGATGAGATAAGGACGGCACTTCTGATTTGATCACTAGCCCAGATTTCATTCATAACTTCTGAGAACTCTGAATGTAGCTCTTTACTCAGTGTATTTACCTGCCAAAGGGAAATATATACAGGTAAGGGTTTAAATTTGAAGCACTGGATGTACGTACCACCATCAAATGCTATTTTGATTATAAGAAATATACTTATCCGGCAGAAATATACTGTTAGAAGAGAGTAAGAAATATCATTCTCCCAGCAAGTCAGTAGCTTTCTATTCAGGCAGCTTTGGCCCACTACAAGCACCCCTTCCTTTAAAAATA... | pathogenic | 29,519 |
The genetic variant at chromosome 2, position 26238953, affecting gene HADHA (hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Long_chain_3-hydroxyacyl-CoA_dehydrogenase_deficiency', 'Mitochondrial_trifunctional_protein_deficiency'] | GGCACTTCTGATTTGATCACTAGCCCAGATTTCATTCATAACTTCTGAGAACTCTGAATGTAGCTCTTTACTCAGTGTATTTACCTGCCAAAGGGAAATATATACAGGTAAGGGTTTAAATTTGAAGCACTGGATGTACGTACCACCATCAAATGCTATTTTGATTATAAGAAATATACTTATCCGGCAGAAATATACTGTTAGAAGAGAGTAAGAAATATCATTCTCCCAGCAAGTCAGTAGCTTTCTATTCAGGCAGCTTTGGCCCACTACAAGCACCCCTTCCTTTAAAAATAGGTCTTCTCAAAGGAGAAACTCAG... | GGCACTTCTGATTTGATCACTAGCCCAGATTTCATTCATAACTTCTGAGAACTCTGAATGTAGCTCTTTACTCAGTGTATTTACCTGCCAAAGGGAAATATATACAGGTAAGGGTTTAAATTTGAAGCACTGGATGTACGTACCACCATCAAATGCTATTTTGATTATAAGAAATATACTTATCCGGCAGAAATATACTGTTAGAAGAGAGTAAGAAATATCATTCTCCCAGCAAGTCAGTAGCTTTCTATTCAGGCAGCTTTGGCCCACTACAAGCACCCCTTCCTTTAAAAATAGGTCTTCTCAAAGGAGAAACTCAG... | pathogenic | 29,522 |
A genetic variant on chromosome 2, position 26238984, affects the gene HADHA (hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Long_chain_3-hydroxyacyl-CoA_dehydrogenase_deficiency', 'Mitochondrial_trifunctional_protein_deficiency'] | TCATTCATAACTTCTGAGAACTCTGAATGTAGCTCTTTACTCAGTGTATTTACCTGCCAAAGGGAAATATATACAGGTAAGGGTTTAAATTTGAAGCACTGGATGTACGTACCACCATCAAATGCTATTTTGATTATAAGAAATATACTTATCCGGCAGAAATATACTGTTAGAAGAGAGTAAGAAATATCATTCTCCCAGCAAGTCAGTAGCTTTCTATTCAGGCAGCTTTGGCCCACTACAAGCACCCCTTCCTTTAAAAATAGGTCTTCTCAAAGGAGAAACTCAGGGTCATCCTCAGAGTTTGAATCATATGTAGG... | TCATTCATAACTTCTGAGAACTCTGAATGTAGCTCTTTACTCAGTGTATTTACCTGCCAAAGGGAAATATATACAGGTAAGGGTTTAAATTTGAAGCACTGGATGTACGTACCACCATCAAATGCTATTTTGATTATAAGAAATATACTTATCCGGCAGAAATATACTGTTAGAAGAGAGTAAGAAATATCATTCTCCCAGCAAGTCAGTAGCTTTCTATTCAGGCAGCTTTGGCCCACTACAAGCACCCCTTCCTTTAAAAATAGGTCTTCTCAAAGGAGAAACTCAGGGTCATCCTCAGAGTTTGAATCATATGTAGG... | pathogenic | 29,525 |
Is the genetic variant on chromosome 2, position 26239138, gene HADHA (hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Long_chain_3-hydroxyacyl-CoA_dehydrogenase_deficiency', 'Mitochondrial_trifunctional_protein_deficiency', 'Mitochondrial_trifunctional_protein_deficiency_1'] | GGCAGAAATATACTGTTAGAAGAGAGTAAGAAATATCATTCTCCCAGCAAGTCAGTAGCTTTCTATTCAGGCAGCTTTGGCCCACTACAAGCACCCCTTCCTTTAAAAATAGGTCTTCTCAAAGGAGAAACTCAGGGTCATCCTCAGAGTTTGAATCATATGTAGGCTATAAACAAATAGGTCTACAAACATTTATTGGCATGGAAAAAATCTGCATAATGTTAAGAAAAAAATGAAATACAAATAAGACATATAGGCCAGGCATGGTGGCTCATCCCTGTAATCCCTGCACTTTGGGAGGCCAAGGTGGGCGGATCACT... | GGCAGAAATATACTGTTAGAAGAGAGTAAGAAATATCATTCTCCCAGCAAGTCAGTAGCTTTCTATTCAGGCAGCTTTGGCCCACTACAAGCACCCCTTCCTTTAAAAATAGGTCTTCTCAAAGGAGAAACTCAGGGTCATCCTCAGAGTTTGAATCATATGTAGGCTATAAACAAATAGGTCTACAAACATTTATTGGCATGGAAAAAATCTGCATAATGTTAAGAAAAAAATGAAATACAAATAAGACATATAGGCCAGGCATGGTGGCTCATCCCTGTAATCCCTGCACTTTGGGAGGCCAAGGTGGGCGGATCACT... | pathogenic | 29,527 |
Clinical classification of chromosome 2, position 26254257, gene HADHB (hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta): benign or pathogenic? Disease(s) if pathogenic? | benign | TACCATTACTTGTAACATACTTTTTGGTTTATACATTCTGTGATATGGAGAGGGAGGCAGCTAGACAAGGATGTGAATACCAAGAGGTAGAGATTATTGGGGGGCAACTTGGAGGCTGGCTACCAAAGTCTTTGTTGGTAAATCTTGTGGGATTTTTTTGGTTTTGATTTTTTGTTGTTGTTGTTAAAACATGCTTCAAAATTAAGAAATTATAAAAGGTGTGTGATGACAAGTCTTCCACCCCTGACCCCTAGTTACCCAGTTCCCTTTCTTCCAGCCAACAATTATTTTTAACATCTTTATTATACTTCCAGGGGGAT... | TACCATTACTTGTAACATACTTTTTGGTTTATACATTCTGTGATATGGAGAGGGAGGCAGCTAGACAAGGATGTGAATACCAAGAGGTAGAGATTATTGGGGGGCAACTTGGAGGCTGGCTACCAAAGTCTTTGTTGGTAAATCTTGTGGGATTTTTTTGGTTTTGATTTTTTGTTGTTGTTGTTAAAACATGCTTCAAAATTAAGAAATTATAAAAGGTGTGTGATGACAAGTCTTCCACCCCTGACCCCTAGTTACCCAGTTCCCTTTCTTCCAGCCAACAATTATTTTTAACATCTTTATTATACTTCCAGGGGGAT... | benign | 29,540 |
Regarding the variant found on chromosome 2 at position 26254332 in gene HADHB (hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta): is it benign or pathogenic? If pathogenic, identify the disease(s). | benign | AATACCAAGAGGTAGAGATTATTGGGGGGCAACTTGGAGGCTGGCTACCAAAGTCTTTGTTGGTAAATCTTGTGGGATTTTTTTGGTTTTGATTTTTTGTTGTTGTTGTTAAAACATGCTTCAAAATTAAGAAATTATAAAAGGTGTGTGATGACAAGTCTTCCACCCCTGACCCCTAGTTACCCAGTTCCCTTTCTTCCAGCCAACAATTATTTTTAACATCTTTATTATACTTCCAGGGGGATTTTATACTGATACAAGGAAATGTACATAATATTTTTCCTCTTTTAACATGAATGATAGCATGCTGTACAGCTATT... | AATACCAAGAGGTAGAGATTATTGGGGGGCAACTTGGAGGCTGGCTACCAAAGTCTTTGTTGGTAAATCTTGTGGGATTTTTTTGGTTTTGATTTTTTGTTGTTGTTGTTAAAACATGCTTCAAAATTAAGAAATTATAAAAGGTGTGTGATGACAAGTCTTCCACCCCTGACCCCTAGTTACCCAGTTCCCTTTCTTCCAGCCAACAATTATTTTTAACATCTTTATTATACTTCCAGGGGGATTTTATACTGATACAAGGAAATGTACATAATATTTTTCCTCTTTTAACATGAATGATAGCATGCTGTACAGCTATT... | benign | 29,542 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 2, position 26263467, gene HADHB (hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta). What disease(s) is it linked to if pathogenic? | pathogenic; ['HADHB-related_disorder', 'Mitochondrial_trifunctional_protein_deficiency'] | CTAGCTAACTGTGGAATTAACATATCCACCTGGTTGTCTCTCTGTCACCTCAAAGTTAGCGAGTTTAAAAATGAGGCCAGGCGCAGTGCCTTATGCCGGTAATCCCAACACTTTGGGAAGCCAAGGCTGGCGGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCAAACAAGGTAAAACCCCATCTTTACTAAAAATATAAAAACTAGCCAGGTGTGGTGTCGTGTGCCTGTAATCCCAACTGCTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAAGTGGAGGTTGCAGTTAGCCGAGATCGTGCCACAG... | CTAGCTAACTGTGGAATTAACATATCCACCTGGTTGTCTCTCTGTCACCTCAAAGTTAGCGAGTTTAAAAATGAGGCCAGGCGCAGTGCCTTATGCCGGTAATCCCAACACTTTGGGAAGCCAAGGCTGGCGGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCAAACAAGGTAAAACCCCATCTTTACTAAAAATATAAAAACTAGCCAGGTGTGGTGTCGTGTGCCTGTAATCCCAACTGCTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAAGTGGAGGTTGCAGTTAGCCGAGATCGTGCCACAG... | pathogenic | 29,553 |
For chromosome 2, position 26279196, gene HADHB (hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Mitochondrial_trifunctional_protein_deficiency', 'Mitochondrial_trifunctional_protein_deficiency_1'] | GCCATGACCACAGGTATGTTTAAATGGAAACAGACAGTACATGTTAATTATTCTCCTTTGTCTTTTACTTGATTATAAAAATGTACTTTTTTTTTTTTTTTTTTTTTTAACACAGAACCTCACTCTGTCACTCAGGCTGGAGTGCAGTGGTACCATCATAGCTCACTGCAGGCTCAAACTCTTGAGCTCAAGAGATCATCCTGCCTTAGGATCCCAAGTAGCTGGGTCTACAGGTGCTCCACCACACCCAGCTAATTTTTAAATTTTTTGTGGAGACGGGATCTCGCCATGTTGCCCAGGCTGGTCTTAAACCTCTGGCC... | GCCATGACCACAGGTATGTTTAAATGGAAACAGACAGTACATGTTAATTATTCTCCTTTGTCTTTTACTTGATTATAAAAATGTACTTTTTTTTTTTTTTTTTTTTTTAACACAGAACCTCACTCTGTCACTCAGGCTGGAGTGCAGTGGTACCATCATAGCTCACTGCAGGCTCAAACTCTTGAGCTCAAGAGATCATCCTGCCTTAGGATCCCAAGTAGCTGGGTCTACAGGTGCTCCACCACACCCAGCTAATTTTTAAATTTTTTGTGGAGACGGGATCTCGCCATGTTGCCCAGGCTGGTCTTAAACCTCTGGCC... | pathogenic | 29,573 |
Considering the variant on chromosome 2, location 26282872, involving gene HADHB (hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Mitochondrial_trifunctional_protein_deficiency'] | CAGCCTGCACAAGAGCGAAACTCCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAGGCATTTTGGACAAAGGGAATAGCAAATGCAAAATCAAGGAAGTATGAGAGCAAGGGGTTCTTTGGGGAAAAGTTAGGTTGGAGCATAAGGTATGAACTGGGAAGTCGCAGAAGACAAGGAAAAGCAGGCAGAAAGAGTAACAGGATACCTCTTCCAGCCCTGATTGTTAGAAAACTGCTTTACACTGACCCCAATATTATTTTCCTGTAAGCATCATGGAACAAATCTACCACTGTTTGTTTTGTGTTTTTTTTTTAACTT... | CAGCCTGCACAAGAGCGAAACTCCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAGGCATTTTGGACAAAGGGAATAGCAAATGCAAAATCAAGGAAGTATGAGAGCAAGGGGTTCTTTGGGGAAAAGTTAGGTTGGAGCATAAGGTATGAACTGGGAAGTCGCAGAAGACAAGGAAAAGCAGGCAGAAAGAGTAACAGGATACCTCTTCCAGCCCTGATTGTTAGAAAACTGCTTTACACTGACCCCAATATTATTTTCCTGTAAGCATCATGGAACAAATCTACCACTGTTTGTTTTGTGTTTTTTTTTTAACTT... | pathogenic | 29,586 |
Determine if the mutation at chromosome 2, position 26283047 in gene HADHB (hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Mitochondrial_trifunctional_protein_deficiency_2'] | AGGAAAAGCAGGCAGAAAGAGTAACAGGATACCTCTTCCAGCCCTGATTGTTAGAAAACTGCTTTACACTGACCCCAATATTATTTTCCTGTAAGCATCATGGAACAAATCTACCACTGTTTGTTTTGTGTTTTTTTTTTAACTTATCAACATGTAGCTTCATATCCTTCCATGCTTTTCTGACTCCTCAATTAAACATCTTTATTGATTCTGCTGCTGCTTGTAAGATGTGATTTCTCTTCTCTTACCACCTTGGGTATAGTCTTCTGGATATAGGCCATCTGGTCAGAGTTTCTCTTACAATGTAACTCTCCTACCTG... | AGGAAAAGCAGGCAGAAAGAGTAACAGGATACCTCTTCCAGCCCTGATTGTTAGAAAACTGCTTTACACTGACCCCAATATTATTTTCCTGTAAGCATCATGGAACAAATCTACCACTGTTTGTTTTGTGTTTTTTTTTTAACTTATCAACATGTAGCTTCATATCCTTCCATGCTTTTCTGACTCCTCAATTAAACATCTTTATTGATTCTGCTGCTGCTTGTAAGATGTGATTTCTCTTCTCTTACCACCTTGGGTATAGTCTTCTGGATATAGGCCATCTGGTCAGAGTTTCTCTTACAATGTAACTCTCCTACCTG... | pathogenic | 29,590 |
Variant at chromosome 2, position 26284165, gene HADHB (hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Mitochondrial_trifunctional_protein_deficiency'] | AGAAAGCAGCTGAGAGCCCAGAAAATGTAAAAATAAATAAATAAGAGATATGTTTATTTTGGTTCATATTTTGTGCCACAAGCTAAAAACTTTGGCTTAAATAAGTGTTTAGTGTTTATTATGAGCAGTTCTTTCTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTGGCTTTGTCACCCAGGCTGGAATGCAGTGGCACGATCTCAGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTGTGTGCCACCACACCTGGCTAAGTTTTTCTA... | AGAAAGCAGCTGAGAGCCCAGAAAATGTAAAAATAAATAAATAAGAGATATGTTTATTTTGGTTCATATTTTGTGCCACAAGCTAAAAACTTTGGCTTAAATAAGTGTTTAGTGTTTATTATGAGCAGTTCTTTCTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTGGCTTTGTCACCCAGGCTGGAATGCAGTGGCACGATCTCAGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTGTGTGCCACCACACCTGGCTAAGTTTTTCTA... | pathogenic | 29,591 |
A genetic variant on chromosome 2, position 26284191, affects the gene HADHB (hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Mitochondrial_trifunctional_protein_deficiency', 'Mitochondrial_trifunctional_protein_deficiency_1'] | GTAAAAATAAATAAATAAGAGATATGTTTATTTTGGTTCATATTTTGTGCCACAAGCTAAAAACTTTGGCTTAAATAAGTGTTTAGTGTTTATTATGAGCAGTTCTTTCTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTGGCTTTGTCACCCAGGCTGGAATGCAGTGGCACGATCTCAGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTGTGTGCCACCACACCTGGCTAAGTTTTTCTATTTTTAGTAGAGATGGGGTTTCACCG... | GTAAAAATAAATAAATAAGAGATATGTTTATTTTGGTTCATATTTTGTGCCACAAGCTAAAAACTTTGGCTTAAATAAGTGTTTAGTGTTTATTATGAGCAGTTCTTTCTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTGGCTTTGTCACCCAGGCTGGAATGCAGTGGCACGATCTCAGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTGTGTGCCACCACACCTGGCTAAGTTTTTCTATTTTTAGTAGAGATGGGGTTTCACCG... | pathogenic | 29,593 |
Considering the variant on chromosome 2, location 26284941, involving gene HADHB (hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Mitochondrial_trifunctional_protein_deficiency'] | GCCATGGGTTATAAGCCGAAGGCATATTTGAGGTAAAGTAAATGTTCAAACAAATCATCTCTGATTTCTTTATTTTATTACCAAAGCTCACCTCTCTATTTTTTTACCTAGGGATTTTATGTATGTGTCTCAGGATCCAAAAGATCAACTATTACTTGGGTAGGTAGCAGTTTGTATCCTTGGACTATAATCACAAGTATTTGATTGCCTATGTTTTATTATACTGGTTAATAAATGATTAACACTGGTTTATTATTTATTTGTTTATTACACTGGTTTGAGAGTATATTAAGCCCTGAGTTCATAATTGGTTTATGTGG... | GCCATGGGTTATAAGCCGAAGGCATATTTGAGGTAAAGTAAATGTTCAAACAAATCATCTCTGATTTCTTTATTTTATTACCAAAGCTCACCTCTCTATTTTTTTACCTAGGGATTTTATGTATGTGTCTCAGGATCCAAAAGATCAACTATTACTTGGGTAGGTAGCAGTTTGTATCCTTGGACTATAATCACAAGTATTTGATTGCCTATGTTTTATTATACTGGTTAATAAATGATTAACACTGGTTTATTATTTATTTGTTTATTACACTGGTTTGAGAGTATATTAAGCCCTGAGTTCATAATTGGTTTATGTGG... | pathogenic | 29,601 |
Mutation found at chromosome 2 position 26402096, gene DRC1 (dynein regulatory complex subunit 1): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Primary_ciliary_dyskinesia', 'Primary_ciliary_dyskinesia_21'] | AGTGAAAAAGGTTTATTACATAATTGAGGCTGCCTGTGGGAGCAAAGAGGGCCTCCCAGCTGGTCAGAAAATGGCTAGAGAGAGCCAGGAAAGGAGACAAGCTTGGGGCTTTTATTGTGGTTAAGGGGTGAGGCTGGGAGGAGGGTATCCTGTGCACGCAGATGAAATCTGCCAGCACCAAAAAGAGCACCTAGGCTTTTTTTAACAGCTTGCCCAGATGTGGAGAAGAAAGAGGGAGTGCTGCGTAAAAGCTGCCAGCAGCCAAATGTCAGCAGCAAAAAATGGAGTCAGATTTCTTATATAAAAAGATGTTGGAAGTG... | AGTGAAAAAGGTTTATTACATAATTGAGGCTGCCTGTGGGAGCAAAGAGGGCCTCCCAGCTGGTCAGAAAATGGCTAGAGAGAGCCAGGAAAGGAGACAAGCTTGGGGCTTTTATTGTGGTTAAGGGGTGAGGCTGGGAGGAGGGTATCCTGTGCACGCAGATGAAATCTGCCAGCACCAAAAAGAGCACCTAGGCTTTTTTTAACAGCTTGCCCAGATGTGGAGAAGAAAGAGGGAGTGCTGCGTAAAAGCTGCCAGCAGCCAAATGTCAGCAGCAAAAAATGGAGTCAGATTTCTTATATAAAAAGATGTTGGAAGTG... | pathogenic | 29,629 |
Is the genetic variant on chromosome 2, position 26454702, gene DRC1 (dynein regulatory complex subunit 1), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Primary_ciliary_dyskinesia', 'Primary_ciliary_dyskinesia_21'] | GAATCTATTTAATAATATATGGTATGTCTACACGATGGGGTACTATAAAACTGTGGGAAAAAACCAAAGTTCTTTATGTATTCACATGAAAAGGTACCTAAGGTTTATTGGTAAGTGTAAAAGCAAACTACAGAACTCTATTTGTAGTATAGTATCATTGATGTCAAAACGAGAAGGAGGAGTATATATGGAAAGGTATGCGCATGTATTTATATATAAACATTATATAGACATACTATTTCCTTGGAAGGAACCATAGGAAACTTGATAGCATTCGTTTGCCTGTGGGAGGTCAATTGCATGAACTGCAAAATAGGAGT... | GAATCTATTTAATAATATATGGTATGTCTACACGATGGGGTACTATAAAACTGTGGGAAAAAACCAAAGTTCTTTATGTATTCACATGAAAAGGTACCTAAGGTTTATTGGTAAGTGTAAAAGCAAACTACAGAACTCTATTTGTAGTATAGTATCATTGATGTCAAAACGAGAAGGAGGAGTATATATGGAAAGGTATGCGCATGTATTTATATATAAACATTATATAGACATACTATTTCCTTGGAAGGAACCATAGGAAACTTGATAGCATTCGTTTGCCTGTGGGAGGTCAATTGCATGAACTGCAAAATAGGAGT... | pathogenic | 29,672 |
The mutation impacting DRC1 (dynein regulatory complex subunit 1) on chromosome 2 at position 26455249: benign or pathogenic? Name the associated disease(s) if pathogenic. | benign | TCTCCCTGGGCAAGCTGTCACTTTCTGTAAACTTTTCTGGTTTTTCTTCTTCCTGCCTCTCTCTCCATGCTCATGCTCGTGTGTCCCCAGCCCACAGTTGTCCGTGCATCTTTCTCCAGATCAAGCCCTGCAGTCAGGCGAGCATGGAGAAGGCGAGCATGGAGGAGACAAGCACGAGGTCAGAATTGGAGCTGGCAGAGCAGACGGAGATGGAGGGAGAAAAGGAAGAAAGCCTGGTGGAAGGGGAGAAGGAGGAAGAGGAGGAGACCCCACCCTCCCCCTGGGTCATCCACCCCAATGATGTCCTCAAGATTCTGGAG... | TCTCCCTGGGCAAGCTGTCACTTTCTGTAAACTTTTCTGGTTTTTCTTCTTCCTGCCTCTCTCTCCATGCTCATGCTCGTGTGTCCCCAGCCCACAGTTGTCCGTGCATCTTTCTCCAGATCAAGCCCTGCAGTCAGGCGAGCATGGAGAAGGCGAGCATGGAGGAGACAAGCACGAGGTCAGAATTGGAGCTGGCAGAGCAGACGGAGATGGAGGGAGAAAAGGAAGAAAGCCTGGTGGAAGGGGAGAAGGAGGAAGAGGAGGAGACCCCACCCTCCCCCTGGGTCATCCACCCCAATGATGTCCTCAAGATTCTGGAG... | benign | 29,681 |
Does the chromosome 2 mutation at position 26458108 within gene OTOF (otoferlin) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Nonsyndromic_genetic_hearing_loss', 'Rare_genetic_deafness'] | TGACCCTTGGCCTGTGACAGGACCCAGACATTCTGGACGGTATGGTTCCCGCTTCCACAGATGCTACTGTATACAAGAGGCTGGGGGAGGAAGAGGTGGGGCAGGCTAGATTGGGGATGGCATGGGTGCGTGGAGAGAGGAGAGGGGAAGACTGCAGAGAATGGACGGGCGGGAGATGAAGAACGCTACCAGAGGTCACAGCTGGAGCAGAAGCTGAGCAAGAAGGCTCAGGCGTGTCTCCTGCAGGGAGGCAGTCTGTGGGTGTTCAGCATCTCTCAGCTTTGGAGAGGAGATGCGTGCAGGGCTTTGGAGGCCCATGG... | TGACCCTTGGCCTGTGACAGGACCCAGACATTCTGGACGGTATGGTTCCCGCTTCCACAGATGCTACTGTATACAAGAGGCTGGGGGAGGAAGAGGTGGGGCAGGCTAGATTGGGGATGGCATGGGTGCGTGGAGAGAGGAGAGGGGAAGACTGCAGAGAATGGACGGGCGGGAGATGAAGAACGCTACCAGAGGTCACAGCTGGAGCAGAAGCTGAGCAAGAAGGCTCAGGCGTGTCTCCTGCAGGGAGGCAGTCTGTGGGTGTTCAGCATCTCTCAGCTTTGGAGAGGAGATGCGTGCAGGGCTTTGGAGGCCCATGG... | pathogenic | 29,693 |
The chromosome 2, position 26460659 genetic variant in gene OTOF (otoferlin): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Autosomal_recessive_nonsyndromic_hearing_loss_9', 'Bilateral_sensorineural_hearing_impairment'] | ACCGGGCCCTGCTGAGGGTCTGAGCAGCCCCTGTGGGGTGCAAGCTGCCCTCACCGACCTGCCCACTCTCAGGATGAAGACCCACTCCACCTTCTGTAGAGCCTCCCAGCCGAGAAGCACCTGGCCAGCCTCACTATCTGTCGTTTGTGTTATAAAAACAATAGGTTTTGTAAAATGTCAAGATACAAGTGAAAGTACTGCATATGCATTTTCAAACTACTGCCTCCCAGAGGACATGGCGTGCAGCCCCAGAGCTGAGCTCAGTATTGGTGGGGACACAGAGCCGGGGCTTGGGTGCAGGGCACCTGGTTTTGAATGGT... | ACCGGGCCCTGCTGAGGGTCTGAGCAGCCCCTGTGGGGTGCAAGCTGCCCTCACCGACCTGCCCACTCTCAGGATGAAGACCCACTCCACCTTCTGTAGAGCCTCCCAGCCGAGAAGCACCTGGCCAGCCTCACTATCTGTCGTTTGTGTTATAAAAACAATAGGTTTTGTAAAATGTCAAGATACAAGTGAAAGTACTGCATATGCATTTTCAAACTACTGCCTCCCAGAGGACATGGCGTGCAGCCCCAGAGCTGAGCTCAGTATTGGTGGGGACACAGAGCCGGGGCTTGGGTGCAGGGCACCTGGTTTTGAATGGT... | pathogenic | 29,702 |
Considering the genetic mutation at chromosome 2, position 26463984, impacting OTOF: is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Autosomal_recessive_nonsyndromic_hearing_loss_9'] | ACCTGTGGGCGCCACATCTCCAGACCCGCAGCCAGGCTGGTGGGGCCTCTCCCACCCACAGCCACCTTCCCTCTGCCTCCTCTCCTGCCCCCCGGGAAGCAAGCCCCACCCAGCTCAGTCCCTCCCATGCAGGGACTGCTCACCCACCCCCTCACGAAGATGTCACTGGACTTCTCCCCTGTGAAGAAGTCGTCGTCCTCCAAGACCACCTCATCTGTGTTCCAGATGATGACCCGCAGCTCGTACCTGGGCCCAGGGAGAGAAGGCTGGTTAGCAGCCCCAGGTGGGGGTTATGCCAGGGTGCCAGGGCTGGGATGGGG... | ACCTGTGGGCGCCACATCTCCAGACCCGCAGCCAGGCTGGTGGGGCCTCTCCCACCCACAGCCACCTTCCCTCTGCCTCCTCTCCTGCCCCCCGGGAAGCAAGCCCCACCCAGCTCAGTCCCTCCCATGCAGGGACTGCTCACCCACCCCCTCACGAAGATGTCACTGGACTTCTCCCCTGTGAAGAAGTCGTCGTCCTCCAAGACCACCTCATCTGTGTTCCAGATGATGACCCGCAGCTCGTACCTGGGCCCAGGGAGAGAAGGCTGGTTAGCAGCCCCAGGTGGGGGTTATGCCAGGGTGCCAGGGCTGGGATGGGG... | pathogenic | 29,730 |
Variant at chromosome position 26474077, chromosome 2, gene OTOF (otoferlin): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Auditory_neuropathy'] | GCATGCACACATACATGCACATGCTCATACCACATGCATGCATGCACGTGCATATGAACATACACCACACATGCATGCACATGTGCACACCACACGCACGCACGTGCATATGCACATACCCCACATACATGCACACACACATGCACATACACCACATGCATACATGCACGATGCACATATGCACACCACACATACGCATGCACGCACAAATGCACATACATCACATGCATGCACACACACATGCACATATGCACACCACACACATGCGCACACACATGCACATTTACATACCACACGCACGCGTGTGCATTCCAGGATAG... | GCATGCACACATACATGCACATGCTCATACCACATGCATGCATGCACGTGCATATGAACATACACCACACATGCATGCACATGTGCACACCACACGCACGCACGTGCATATGCACATACCCCACATACATGCACACACACATGCACATACACCACATGCATACATGCACGATGCACATATGCACACCACACATACGCATGCACGCACAAATGCACATACATCACATGCATGCACACACACATGCACATATGCACACCACACACATGCGCACACACATGCACATTTACATACCACACGCACGCGTGTGCATTCCAGGATAG... | pathogenic | 29,791 |
Clinical significance of chromosome 2, position 26474622, gene OTOF (otoferlin): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Rare_genetic_deafness'] | GTCACCACAACCTCCCCTGTGGAGTGAGAGGAGGAGCCCCCATTGCACAGCACACGGCAGCGCCGGAGAAGCCTGACTGGACAGATGGATAGATGGACAGACAGGCAGAGGAAGGAGCAAGAGGAACAGTGAGATTGGCGGGGCAGGAAGGTGCGGAGAACTAAAGCTGATTCTGGAACTTTCTGAGGGAGAGGGGGACAGGCAGTCAAGGGAGAAAATATGGGCATGGGGAGGGAAGAAGAGAGCCCGAGATAAGGGGAAGCTGCGGAGGCCGGTGGGAGGGAGGTGGCGGGGAGGCCTGGGTCTTCTCCATCAACCAG... | GTCACCACAACCTCCCCTGTGGAGTGAGAGGAGGAGCCCCCATTGCACAGCACACGGCAGCGCCGGAGAAGCCTGACTGGACAGATGGATAGATGGACAGACAGGCAGAGGAAGGAGCAAGAGGAACAGTGAGATTGGCGGGGCAGGAAGGTGCGGAGAACTAAAGCTGATTCTGGAACTTTCTGAGGGAGAGGGGGACAGGCAGTCAAGGGAGAAAATATGGGCATGGGGAGGGAAGAAGAGAGCCCGAGATAAGGGGAAGCTGCGGAGGCCGGTGGGAGGGAGGTGGCGGGGAGGCCTGGGTCTTCTCCATCAACCAG... | pathogenic | 29,798 |
A genetic variant at chromosome 2, position 26475926, affecting gene OTOF (otoferlin)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Autosomal_recessive_nonsyndromic_hearing_loss_9', 'Rare_genetic_deafness'] | GGTCTGCTGCTGGCTCCTGGTGATGGTGGTGGGAGGGGGATGACAAGCCACTTCCCCTCCTGGGTCCTCAGACTCCTCATCCAAAAGGGAAGGGCCACACAGAGCCCTCGCACCTCCACTCGGTACTTGCTGAGCACGGGCCGGATGCCCATGGGCACGGGCATGATGGGACCTCGGTCCACGTCCACCGGGCCATTGATGGGGGGCAGGTCAGCCTTCCCTGCTGGTCCAATCTGGGGAATGGGGGTCACAGGTCACACACTGGGGAGCCCAGGGACAGGGTCTCTTTCCCCATGAGTTGTTTGCCATGATCTGGGGAG... | GGTCTGCTGCTGGCTCCTGGTGATGGTGGTGGGAGGGGGATGACAAGCCACTTCCCCTCCTGGGTCCTCAGACTCCTCATCCAAAAGGGAAGGGCCACACAGAGCCCTCGCACCTCCACTCGGTACTTGCTGAGCACGGGCCGGATGCCCATGGGCACGGGCATGATGGGACCTCGGTCCACGTCCACCGGGCCATTGATGGGGGGCAGGTCAGCCTTCCCTGCTGGTCCAATCTGGGGAATGGGGGTCACAGGTCACACACTGGGGAGCCCAGGGACAGGGTCTCTTTCCCCATGAGTTGTTTGCCATGATCTGGGGAG... | pathogenic | 29,804 |
Gene OTOF (otoferlin) variant at chromosome 2, position 26477420—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | benign | TCATAGATTTCAATGACAATGATGGGCGGATCGTCCCTCAGCTCATGAGCTTCACCATAGAGCTCCAGGTTGTCGAACACCAGCATCTGGTCCCAGGTGGGACACAGGGTCTCATTCAGCACCTGCAGCATGGGATGGGGAGACAGGGGACAAGTGACAGAGGGGGGGGCAGATGCACAAACAGAAGCCACCCCTACTCACTCAGCTTCCACGGAACCTGGGGGCAGGAGTGACAGGTGTCTTGATTCTTCCAGAAATCTTAAAATCAAGGCTAATATGAGGTTTGGCCCAAGCCCCCTGCCAATGTCCTCCTTGTCGTC... | TCATAGATTTCAATGACAATGATGGGCGGATCGTCCCTCAGCTCATGAGCTTCACCATAGAGCTCCAGGTTGTCGAACACCAGCATCTGGTCCCAGGTGGGACACAGGGTCTCATTCAGCACCTGCAGCATGGGATGGGGAGACAGGGGACAAGTGACAGAGGGGGGGGCAGATGCACAAACAGAAGCCACCCCTACTCACTCAGCTTCCACGGAACCTGGGGGCAGGAGTGACAGGTGTCTTGATTCTTCCAGAAATCTTAAAATCAAGGCTAATATGAGGTTTGGCCCAAGCCCCCTGCCAATGTCCTCCTTGTCGTC... | benign | 29,825 |
A genetic alteration at chromosome 2, position 26477473, in gene OTOF (otoferlin)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Autosomal_recessive_nonsyndromic_hearing_loss_9', 'Bilateral_sensorineural_hearing_impairment', 'Nonsyndromic_genetic_hearing_loss', 'Rare_genetic_deafness'] | ACCATAGAGCTCCAGGTTGTCGAACACCAGCATCTGGTCCCAGGTGGGACACAGGGTCTCATTCAGCACCTGCAGCATGGGATGGGGAGACAGGGGACAAGTGACAGAGGGGGGGGCAGATGCACAAACAGAAGCCACCCCTACTCACTCAGCTTCCACGGAACCTGGGGGCAGGAGTGACAGGTGTCTTGATTCTTCCAGAAATCTTAAAATCAAGGCTAATATGAGGTTTGGCCCAAGCCCCCTGCCAATGTCCTCCTTGTCGTCCCTGTCTTGTGAATATAACCACAGCTAAAGCCCGTAGCCTTTCCAGTGTGACC... | ACCATAGAGCTCCAGGTTGTCGAACACCAGCATCTGGTCCCAGGTGGGACACAGGGTCTCATTCAGCACCTGCAGCATGGGATGGGGAGACAGGGGACAAGTGACAGAGGGGGGGGCAGATGCACAAACAGAAGCCACCCCTACTCACTCAGCTTCCACGGAACCTGGGGGCAGGAGTGACAGGTGTCTTGATTCTTCCAGAAATCTTAAAATCAAGGCTAATATGAGGTTTGGCCCAAGCCCCCTGCCAATGTCCTCCTTGTCGTCCCTGTCTTGTGAATATAACCACAGCTAAAGCCCGTAGCCTTTCCAGTGTGACC... | pathogenic | 29,827 |
Is the genetic change at chromosome 2, position 26479599, within gene OTOF (otoferlin) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Autosomal_recessive_nonsyndromic_hearing_loss_9'] | GGCTCTGTAGATTCTTCCTCATCTGCCCAGCCCTGGCAGGGTCCCCTTTGTCCAGTTCCGCCTCATCCTCCCCCCACCTGCCGCCCCTCCCTTCTCACCAGCAGCCACAGCTCAGCTCCTCCAGGACGCCCCGCAGGCGACGCTCAGGGTAGGACTTCTCCGTTTTGATCATCTCCTGTATGTCGTTCAGGCCTTCTTCCTGTGAATCAGGAGTGTGGGTGATGCTGGGCCACAGCCCCGCCTCCCCAGCCTCCCCAAATGCCTCCTCCCTGTTGATCAGGGGAGTGAGGGACCTCATGATCTGGGAGCTCTCGCTAGGG... | GGCTCTGTAGATTCTTCCTCATCTGCCCAGCCCTGGCAGGGTCCCCTTTGTCCAGTTCCGCCTCATCCTCCCCCCACCTGCCGCCCCTCCCTTCTCACCAGCAGCCACAGCTCAGCTCCTCCAGGACGCCCCGCAGGCGACGCTCAGGGTAGGACTTCTCCGTTTTGATCATCTCCTGTATGTCGTTCAGGCCTTCTTCCTGTGAATCAGGAGTGTGGGTGATGCTGGGCCACAGCCCCGCCTCCCCAGCCTCCCCAAATGCCTCCTCCCTGTTGATCAGGGGAGTGAGGGACCTCATGATCTGGGAGCTCTCGCTAGGG... | pathogenic | 29,849 |
Clinical classification of chromosome 2, position 26479603, gene OTOF (otoferlin): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Autosomal_recessive_nonsyndromic_hearing_loss_9'] | CTGTAGATTCTTCCTCATCTGCCCAGCCCTGGCAGGGTCCCCTTTGTCCAGTTCCGCCTCATCCTCCCCCCACCTGCCGCCCCTCCCTTCTCACCAGCAGCCACAGCTCAGCTCCTCCAGGACGCCCCGCAGGCGACGCTCAGGGTAGGACTTCTCCGTTTTGATCATCTCCTGTATGTCGTTCAGGCCTTCTTCCTGTGAATCAGGAGTGTGGGTGATGCTGGGCCACAGCCCCGCCTCCCCAGCCTCCCCAAATGCCTCCTCCCTGTTGATCAGGGGAGTGAGGGACCTCATGATCTGGGAGCTCTCGCTAGGGCCAT... | CTGTAGATTCTTCCTCATCTGCCCAGCCCTGGCAGGGTCCCCTTTGTCCAGTTCCGCCTCATCCTCCCCCCACCTGCCGCCCCTCCCTTCTCACCAGCAGCCACAGCTCAGCTCCTCCAGGACGCCCCGCAGGCGACGCTCAGGGTAGGACTTCTCCGTTTTGATCATCTCCTGTATGTCGTTCAGGCCTTCTTCCTGTGAATCAGGAGTGTGGGTGATGCTGGGCCACAGCCCCGCCTCCCCAGCCTCCCCAAATGCCTCCTCCCTGTTGATCAGGGGAGTGAGGGACCTCATGATCTGGGAGCTCTCGCTAGGGCCAT... | pathogenic | 29,850 |
Does the variant impacting OTOF (otoferlin) on chromosome 2, position 26481015, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | benign | GGGATTACAGGCGTGAGCCACCACACCTGTCTCCCTAGCCTTGCTTTTAAGATTTCTGGAAAAATCAGGGAACCCAACACTCCTGCCCCAGGATTCACTGGAGGCTGAGTGACTAGAGGTGGCTCCTGTCCTTGTCTGTGCCCTGGGACCTGGGGCTGAGAATGGGAACAGAGGTCCTGCTGGGGCCGTTCCTGCAGCCCCCTGGGCAGACCAGCTTTGTGTGTTCCAGGGAAGGCCCTCTGACAGCGCCGTCTCCCCCAGGACCCCACCCCTGCTGGCCCCTGGCCTGGCCCTGACCAGCTTGTCGGCAATGTGGTCCA... | GGGATTACAGGCGTGAGCCACCACACCTGTCTCCCTAGCCTTGCTTTTAAGATTTCTGGAAAAATCAGGGAACCCAACACTCCTGCCCCAGGATTCACTGGAGGCTGAGTGACTAGAGGTGGCTCCTGTCCTTGTCTGTGCCCTGGGACCTGGGGCTGAGAATGGGAACAGAGGTCCTGCTGGGGCCGTTCCTGCAGCCCCCTGGGCAGACCAGCTTTGTGTGTTCCAGGGAAGGCCCTCTGACAGCGCCGTCTCCCCCAGGACCCCACCCCTGCTGGCCCCTGGCCTGGCCCTGACCAGCTTGTCGGCAATGTGGTCCA... | benign | 29,859 |
Regarding the variant at chromosome 2 and position 26482417, affecting gene OTOF (otoferlin): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Autosomal_recessive_nonsyndromic_hearing_loss_9', 'Bilateral_sensorineural_hearing_impairment'] | CCAGGCCTCCTTCCGTCTCACAGACAGGCCGTGGGGGTGGATGGTGGGGGCATCCCACCCGGCTTTGGGGCCAGGCAGCCCACACCCCAACGGCCCCCCAGCCTGGATATCCATGGAAGCAGGGCTGGCTGCAGACACCACAGGGACAGCCGTGGCTGGGAAGAGGGGCAGAGGGGAGGCACCATCGTGAGACCTGGCGGCCGTTGTGAGACAGAGCACAGGCAGGCAGTGGACGAGGGCAGAGTCCTGTTGCGGGGCTGAGTGGGGGCCTCTGCTTCCTGGGGAGAAGCCTTATCCTGAGGTATGACTCCTCAGGTAGA... | CCAGGCCTCCTTCCGTCTCACAGACAGGCCGTGGGGGTGGATGGTGGGGGCATCCCACCCGGCTTTGGGGCCAGGCAGCCCACACCCCAACGGCCCCCCAGCCTGGATATCCATGGAAGCAGGGCTGGCTGCAGACACCACAGGGACAGCCGTGGCTGGGAAGAGGGGCAGAGGGGAGGCACCATCGTGAGACCTGGCGGCCGTTGTGAGACAGAGCACAGGCAGGCAGTGGACGAGGGCAGAGTCCTGTTGCGGGGCTGAGTGGGGGCCTCTGCTTCCTGGGGAGAAGCCTTATCCTGAGGTATGACTCCTCAGGTAGA... | pathogenic | 29,864 |
Is the chromosome 2, position 26483617 variant in OTOF (otoferlin) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Autosomal_recessive_nonsyndromic_hearing_loss_9'] | TTTTTAAAAAACACACTTATAGCATTTTAAAAATTTAGATATACTTCACATGACATAAAATTCACCCTTTTAAAGTGTACATTTCAGTGGTTTTTCGTATATTCACTGTGCTATAAACCATCATCTACTTCCAGAGCAGTTCCACCCCCTCAAAAGAAACTCTGCACCTATTTAGCAGTTAGTCCCAATCCCCTCCCTTTAGCACCTGGAAACCGGCAATCTACTTTCTGTCTCTGTGGATTTGCCGGATGTTTCACATACATGGATCAGACAACATGTGGCCTTTTGTGTCTTCTGCCTTATGTTTTGACCATTTGGTA... | TTTTTAAAAAACACACTTATAGCATTTTAAAAATTTAGATATACTTCACATGACATAAAATTCACCCTTTTAAAGTGTACATTTCAGTGGTTTTTCGTATATTCACTGTGCTATAAACCATCATCTACTTCCAGAGCAGTTCCACCCCCTCAAAAGAAACTCTGCACCTATTTAGCAGTTAGTCCCAATCCCCTCCCTTTAGCACCTGGAAACCGGCAATCTACTTTCTGTCTCTGTGGATTTGCCGGATGTTTCACATACATGGATCAGACAACATGTGGCCTTTTGTGTCTTCTGCCTTATGTTTTGACCATTTGGTA... | pathogenic | 29,875 |
Is the genetic mutation found on chromosome 2 at position 26484506, within the gene OTOF (otoferlin), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Autosomal_recessive_nonsyndromic_hearing_loss_9', 'Nonsyndromic_genetic_hearing_loss'] | GGCCACGTCGTTGACCTTGTCCGAGTCTCGGATCTGCACCTTCATGCGTTTGCAGAGTGGGGGGAAGAGGTCTGTAAAGACGACCTGCTCATTCCACAGGGGCTCATAGCTGCTCTTCTGCACTGAAGTCTTGCCCTGGTGGAAGGGGGAGCACAGGTGAGGGCGTGGCATGTGTGTGTGAGTGGGTGCATGTGTGTGTGTGTGAGTGGGCGCATGTGTGCGTGAGTGGGCACATGTGTGCATGTGTGAGTGGGTGTGCATGCGTGTGTGAGTGGATGCATGTGTGCGTGTGTGAGTGGGTGCATGTGTGAGTGGGTGCG... | GGCCACGTCGTTGACCTTGTCCGAGTCTCGGATCTGCACCTTCATGCGTTTGCAGAGTGGGGGGAAGAGGTCTGTAAAGACGACCTGCTCATTCCACAGGGGCTCATAGCTGCTCTTCTGCACTGAAGTCTTGCCCTGGTGGAAGGGGGAGCACAGGTGAGGGCGTGGCATGTGTGTGTGAGTGGGTGCATGTGTGTGTGTGTGAGTGGGCGCATGTGTGCGTGAGTGGGCACATGTGTGCATGTGTGAGTGGGTGTGCATGCGTGTGTGAGTGGATGCATGTGTGCGTGTGTGAGTGGGTGCATGTGTGAGTGGGTGCG... | pathogenic | 29,880 |
Regarding the variant found on chromosome 2 at position 26494999 in gene OTOF (otoferlin): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Rare_genetic_deafness'] | GGTGTGTGGGCCTGGTGGAGGGAGATCCCTTAAGTTAGCAGAAGTGGCTTCACTGCTATCAAGTAACCACCGGGGCCACAGGGACCTGTCTCCATGCCTGTCTTGGGGACATAGATGCTTATCTAGGCGGAGACTTGTCCAGTCAGGATGTGTCCTAACGTAAGGCCAGAGATGTCAATCCTGAATGTCCTTGGGGCTGGAGGGGTCCTGAGCAGGTTGTCCAGCTCGGGGGGCCTGTGGGAAAGCAGCTGGGAGAGCAGAGTCAATTTGTGGTCACAAAGGAGAGTTCGGCCAGGCCTGGGCTGAAGGGCAGAGGTGGG... | GGTGTGTGGGCCTGGTGGAGGGAGATCCCTTAAGTTAGCAGAAGTGGCTTCACTGCTATCAAGTAACCACCGGGGCCACAGGGACCTGTCTCCATGCCTGTCTTGGGGACATAGATGCTTATCTAGGCGGAGACTTGTCCAGTCAGGATGTGTCCTAACGTAAGGCCAGAGATGTCAATCCTGAATGTCCTTGGGGCTGGAGGGGTCCTGAGCAGGTTGTCCAGCTCGGGGGGCCTGTGGGAAAGCAGCTGGGAGAGCAGAGTCAATTTGTGGTCACAAAGGAGAGTTCGGCCAGGCCTGGGCTGAAGGGCAGAGGTGGG... | pathogenic | 29,897 |
Mutation found at chromosome 2 position 26503851, gene OTOF (otoferlin): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | benign | TTAGATCTGAGGAAGAGAATGTACCATCAGGCCTGGGGTATGGGGACTGCTTGTTGGGGAGGAGGACACTGGCAGTGGTTAGACCTGGGAGTGGGCAGAGGGACAGAATCATGGTCTTTAAACACTCAAGCACTGCCAAGAATAGTGAGGATTAGTTGTCTTCAGAGGCCTCAACACAGAGAACTAATCAAAGGCAGAAGTAACAGAGAGACAGACATGGGGTCAATAGGTTCAAATATGGGGTGGGCAGGTCTGTGGCTTCCTTGGGCTGGGAGGTATTCAAGGACCTGAGAACAGGCCTGCAGCTGCTGTGCTCTGCT... | TTAGATCTGAGGAAGAGAATGTACCATCAGGCCTGGGGTATGGGGACTGCTTGTTGGGGAGGAGGACACTGGCAGTGGTTAGACCTGGGAGTGGGCAGAGGGACAGAATCATGGTCTTTAAACACTCAAGCACTGCCAAGAATAGTGAGGATTAGTTGTCTTCAGAGGCCTCAACACAGAGAACTAATCAAAGGCAGAAGTAACAGAGAGACAGACATGGGGTCAATAGGTTCAAATATGGGGTGGGCAGGTCTGTGGCTTCCTTGGGCTGGGAGGTATTCAAGGACCTGAGAACAGGCCTGCAGCTGCTGTGCTCTGCT... | benign | 29,907 |
Is the genetic variant on chromosome 2, position 27223988, gene CAD (carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic | CTTAGCGTATTCTTTTTTTCCCTTTATATTATTTTCTATAAATGGATAGATTTAGAGTTGTTCAATTCAGATGTGATATTTTTGGCAGGAATACTTCATGGTAGTATACTTCTGTCACAATGGCCCAGGATTTTGATGCACATAGAACAGCTGTGTGTGACTGGGGCTCTGGAATGGAAGTGCTTCTGGAAGTCTAACCTCACAGATGACTGAGTTGTAGGAATGTGATCCCTAAGACTGTGCTATTTTGACAGGAGTAGACACTCGGGAGCTGACCAAGAAGTTGCGGGAACAGGGGTCTCTGCTGGGGAAGCTGGTCC... | CTTAGCGTATTCTTTTTTTCCCTTTATATTATTTTCTATAAATGGATAGATTTAGAGTTGTTCAATTCAGATGTGATATTTTTGGCAGGAATACTTCATGGTAGTATACTTCTGTCACAATGGCCCAGGATTTTGATGCACATAGAACAGCTGTGTGTGACTGGGGCTCTGGAATGGAAGTGCTTCTGGAAGTCTAACCTCACAGATGACTGAGTTGTAGGAATGTGATCCCTAAGACTGTGCTATTTTGACAGGAGTAGACACTCGGGAGCTGACCAAGAAGTTGCGGGAACAGGGGTCTCTGCTGGGGAAGCTGGTCC... | pathogenic | 30,017 |
Gene CAD (carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase) variant at chromosome 2, position 27239368—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic | AGCTCACCCTTCCTATTTCTGAATCTTCCTGTAATCTTGCTGCTTCCATTTTCTCCCAGGATTGATTGATGTCCATGTGCACCTGCGGGAACCAGGTGGGACACATAAGGAGGACTTTGCTTCAGGCACAGCCGCTGCCCTGGCTGGGGGTATCACCATGGTGTGTGCCATGCCTAATACCCGGCCCCCCATCATTGACGCCCCTGCTCTGGCCCTGGCCCAGAAGGTGAGCCACTGCACTCTTCCTGGTATTGGAGACCCATATGCCCCTACCAGCCACCCTTGCTTCCCTGAGCCCTTTTCCTTCTGCCCCGCCCTAT... | AGCTCACCCTTCCTATTTCTGAATCTTCCTGTAATCTTGCTGCTTCCATTTTCTCCCAGGATTGATTGATGTCCATGTGCACCTGCGGGAACCAGGTGGGACACATAAGGAGGACTTTGCTTCAGGCACAGCCGCTGCCCTGGCTGGGGGTATCACCATGGTGTGTGCCATGCCTAATACCCGGCCCCCCATCATTGACGCCCCTGCTCTGGCCCTGGCCCAGAAGGTGAGCCACTGCACTCTTCCTGGTATTGGAGACCCATATGCCCCTACCAGCCACCCTTGCTTCCCTGAGCCCTTTTCCTTCTGCCCCGCCCTAT... | pathogenic | 30,073 |
Regarding the variant at chromosome 2 and position 27241151, affecting gene CAD (carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Developmental_and_epileptic_encephalopathy,_50'] | GACCATGCTGCCACTACTCCTGACGGCTGTAAGCGAGGGCCGGCTCAGCCTGGACGACCTGCTGCAGCGATTGCACCACAATCCTCGGCGCATCTTTCACCTGCCCCCGCAGGAGGACACCTATGTGGAGGTGTGGGGATGAGGCCCAGAGCAGGAGGGGGGCTCTCCAGCCCTAGGATATGTTCTCTGGGGATCCTTTCCCTAGCATAACCCATGTCCTCTGGGCAGGTGGATCTGGAGCATGAGTGGACAATTCCCAGCCACATGCCCTTCTCCAAGGCCCACTGGACACCTTTTGAAGGGCAGAAAGTGAAGGGCAC... | GACCATGCTGCCACTACTCCTGACGGCTGTAAGCGAGGGCCGGCTCAGCCTGGACGACCTGCTGCAGCGATTGCACCACAATCCTCGGCGCATCTTTCACCTGCCCCCGCAGGAGGACACCTATGTGGAGGTGTGGGGATGAGGCCCAGAGCAGGAGGGGGGCTCTCCAGCCCTAGGATATGTTCTCTGGGGATCCTTTCCCTAGCATAACCCATGTCCTCTGGGCAGGTGGATCTGGAGCATGAGTGGACAATTCCCAGCCACATGCCCTTCTCCAAGGCCCACTGGACACCTTTTGAAGGGCAGAAAGTGAAGGGCAC... | pathogenic | 30,083 |
Variant on chromosome 2, at position 27243390, affecting CAD: is it benign or pathogenic? If pathogenic, specify the associated disease(s). | benign | GGCACACACACTGCGTATGATGGTGCAGAAGGAGCGGAGCCTCGACATCCTGAAGGTCAGGATCAGGGCCGGGGGTAGGGTCCAGGCCATCGCCTGCCCTTGGGCCGCATCAGCGCAGGGCCGCGCAGTGGTCAGAGTGGGTCTTCCTCCCCCTGCCATCCCGTCCCCTTATGCTAGTCCATCCCTCTGCTGCTGTAGATCTTCCCCCACGTTTTCCCTCCCCAAAGCAGGATTTAGCTGGCTGGGGAGGCCCTGAGCATGAGACCATCGCCCCACTAGTGGGGTCTTCTGGTCTGGGCTGCTGCAATCATGGGAGAGAG... | GGCACACACACTGCGTATGATGGTGCAGAAGGAGCGGAGCCTCGACATCCTGAAGGTCAGGATCAGGGCCGGGGGTAGGGTCCAGGCCATCGCCTGCCCTTGGGCCGCATCAGCGCAGGGCCGCGCAGTGGTCAGAGTGGGTCTTCCTCCCCCTGCCATCCCGTCCCCTTATGCTAGTCCATCCCTCTGCTGCTGTAGATCTTCCCCCACGTTTTCCCTCCCCAAAGCAGGATTTAGCTGGCTGGGGAGGCCCTGAGCATGAGACCATCGCCCCACTAGTGGGGTCTTCTGGTCTGGGCTGCTGCAATCATGGGAGAGAG... | benign | 30,092 |
Is chromosome 2, position 27311908, gene MPV17 (mitochondrial inner membrane protein MPV17) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Charcot-Marie-Tooth_disease,_axonal,_type_2EE', 'Mitochondrial_DNA_depletion_syndrome_15_(hepatocerebral_type)', 'Mitochondrial_DNA_depletion_syndrome_6_(hepatocerebral_type)'] | TCCAGGGTCAAGCTGCATCACTGCAAGGTGGAAACGATGGAGTGAGGCAGGCTTAGAGCCGATGTGCCTTCCAGGACAGGTAGGAGTTCCAGATAACAGCAACACATTGGACAACGGCCAACCTAAGGAACAGGAATAACACAATGAAGAGGAGGAAGGCTAAGCAGTGAGCAAGGGCTGGAGATGGGAGCATGAAATGGCAAAGGAGGGATCATGACAAAGGATTGGCAGGTTTAGGTCTCTTTCCTTCAGCACCTTTTTTTTGAGATGGAGTCTCCTCTGTTGCCCAGGCTGGAGTGCAGTAGCACAATCTTGGCTCA... | TCCAGGGTCAAGCTGCATCACTGCAAGGTGGAAACGATGGAGTGAGGCAGGCTTAGAGCCGATGTGCCTTCCAGGACAGGTAGGAGTTCCAGATAACAGCAACACATTGGACAACGGCCAACCTAAGGAACAGGAATAACACAATGAAGAGGAGGAAGGCTAAGCAGTGAGCAAGGGCTGGAGATGGGAGCATGAAATGGCAAAGGAGGGATCATGACAAAGGATTGGCAGGTTTAGGTCTCTTTCCTTCAGCACCTTTTTTTTGAGATGGAGTCTCCTCTGTTGCCCAGGCTGGAGTGCAGTAGCACAATCTTGGCTCA... | pathogenic | 30,105 |
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