ID stringlengths 13 17 | question stringlengths 88 1.13k | answer stringlengths 6 156 | reference_sequence stringlengths 4.1k 4.1k | variant_sequence stringlengths 4.1k 4.1k |
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Task1_train_5400 | Consider this mutation in CPS1 (carbamoyl-phosphate synthase 1) on Chromosome 2. Is this a benign change or a disease-causing variant? | Pathogenic; Pulmonary hypertension, neonatal, susceptibility to | GGTAGTTCAAGGAACTTGAGAAAATTATGTAATATTTTCATTTGGGGCTTCTTATCTGAGGGATTTTGTTGTCAAACAAAAAATAAAAGGTAGGGGGGAGTTTTGTTGTCTAACACCTTACATTTAGTTCAAAAAGTGAGCAAACATTTCCTGAGTTCTTACTAAACGCAAGACACTGGGAGGATTTAAAAAAGGAATAGATTATAGATAATTGAGATACATTGTCTGCAGTTGGTAAATTCAGAATACCTAAACTGACCCGAATAGACAATGAATTATTAATCTCTGGTAAATATTAAAAGATAGTACTTATATATAGA... | GGTAGTTCAAGGAACTTGAGAAAATTATGTAATATTTTCATTTGGGGCTTCTTATCTGAGGGATTTTGTTGTCAAACAAAAAATAAAAGGTAGGGGGGAGTTTTGTTGTCTAACACCTTACATTTAGTTCAAAAAGTGAGCAAACATTTCCTGAGTTCTTACTAAACGCAAGACACTGGGAGGATTTAAAAAAGGAATAGATTATAGATAATTGAGATACATTGTCTGCAGTTGGTAAATTCAGAATACCTAAACTGACCCGAATAGACAATGAATTATTAATCTCTGGTAAATATTAAAAGATAGTACTTATATATAGA... |
Task1_train_5401 | This sequence change occurs on Chromosome 2, altering CPS1 (carbamoyl-phosphate synthase 1). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Congenital hyperammonemia, type I | GGTAGTTCAAGGAACTTGAGAAAATTATGTAATATTTTCATTTGGGGCTTCTTATCTGAGGGATTTTGTTGTCAAACAAAAAATAAAAGGTAGGGGGGAGTTTTGTTGTCTAACACCTTACATTTAGTTCAAAAAGTGAGCAAACATTTCCTGAGTTCTTACTAAACGCAAGACACTGGGAGGATTTAAAAAAGGAATAGATTATAGATAATTGAGATACATTGTCTGCAGTTGGTAAATTCAGAATACCTAAACTGACCCGAATAGACAATGAATTATTAATCTCTGGTAAATATTAAAAGATAGTACTTATATATAGA... | GGTAGTTCAAGGAACTTGAGAAAATTATGTAATATTTTCATTTGGGGCTTCTTATCTGAGGGATTTTGTTGTCAAACAAAAAATAAAAGGTAGGGGGGAGTTTTGTTGTCTAACACCTTACATTTAGTTCAAAAAGTGAGCAAACATTTCCTGAGTTCTTACTAAACGCAAGACACTGGGAGGATTTAAAAAAGGAATAGATTATAGATAATTGAGATACATTGTCTGCAGTTGGTAAATTCAGAATACCTAAACTGACCCGAATAGACAATGAATTATTAATCTCTGGTAAATATTAAAAGATAGTACTTATATATAGA... |
Task1_train_5402 | Located on Chromosome 2, this mutation impacts CPS1 (carbamoyl-phosphate synthase 1). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Congenital hyperammonemia, type I | GAAATAGCCCAAAATATGTCCTTTTGATATGAAAGGTTTAACTAACTTGGTAGTTTCAAAACTTAGAGTCAAATCATTAAAAAGACTGGTATTAACTTTTAACAAAATTACCACAAATTCAATAGAAGTTGCCAGCTAAAAACTGAGAAAGTTTAGCTTAAGCACAATTGAGACAAAGTCCCAACACATTTCCATATGTTTTTCCTTTTTTTGTTTTCATATGAGGTTATAGATTCTAGCTGTGACAGTTACAGGCAAAACTTCTTTGCAGTGAATACCTCCACACAAAGCCTGGTTGAGTAAAACAAAATTATTCCCAA... | GAAATAGCCCAAAATATGTCCTTTTGATATGAAAGGTTTAACTAACTTGGTAGTTTCAAAACTTAGAGTCAAATCATTAAAAAGACTGGTATTAACTTTTAACAAAATTACCACAAATTCAATAGAAGTTGCCAGCTAAAAACTGAGAAAGTTTAGCTTAAGCACAATTGAGACAAAGTCCCAACACATTTCCATATGTTTTTCCTTTTTTTGTTTTCATATGAGGTTATAGATTCTAGCTGTGACAGTTACAGGCAAAACTTCTTTGCAGTGAATACCTCCACACAAAGCCTGGTTGAGTAAAACAAAATTATTCCCAA... |
Task1_train_5403 | A variant found in Chromosome 2 affects CPS1 (carbamoyl-phosphate synthase 1). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Pulmonary hypertension, neonatal, susceptibility to | GAAATAGCCCAAAATATGTCCTTTTGATATGAAAGGTTTAACTAACTTGGTAGTTTCAAAACTTAGAGTCAAATCATTAAAAAGACTGGTATTAACTTTTAACAAAATTACCACAAATTCAATAGAAGTTGCCAGCTAAAAACTGAGAAAGTTTAGCTTAAGCACAATTGAGACAAAGTCCCAACACATTTCCATATGTTTTTCCTTTTTTTGTTTTCATATGAGGTTATAGATTCTAGCTGTGACAGTTACAGGCAAAACTTCTTTGCAGTGAATACCTCCACACAAAGCCTGGTTGAGTAAAACAAAATTATTCCCAA... | GAAATAGCCCAAAATATGTCCTTTTGATATGAAAGGTTTAACTAACTTGGTAGTTTCAAAACTTAGAGTCAAATCATTAAAAAGACTGGTATTAACTTTTAACAAAATTACCACAAATTCAATAGAAGTTGCCAGCTAAAAACTGAGAAAGTTTAGCTTAAGCACAATTGAGACAAAGTCCCAACACATTTCCATATGTTTTTCCTTTTTTTGTTTTCATATGAGGTTATAGATTCTAGCTGTGACAGTTACAGGCAAAACTTCTTTGCAGTGAATACCTCCACACAAAGCCTGGTTGAGTAAAACAAAATTATTCCCAA... |
Task1_train_5404 | Assess the clinical impact of this variant on gene ERBB4 (erb-b2 receptor tyrosine kinase 4), found on Chromosome 2. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; not provided | TGGATGGATGGATGGATTTACTTGTTCAGAATAGGAAGAAACACAAATTTCTTTGGATTTTTTTCTCTAAACTTTCTCTGCCTTAATAGATATTTTTACTCTAATTAATTAATCTTATACTATTGATTCTAATTTGGTCCCAATATTTTAACATTAGAAATATTTTTTAAAAATCTAAATGACTTGGGGTAGAATTTTCAGAAAAGGGCGACTTATATCTAAGTTTCCTAATTATTGATGTGAGGCCCCCTTTACTTGGAGACTCATCTCTGTCATTTGTTCTCATCCTTCATCTCATCAGGTATTCTTTCAAAATGATA... | TGGATGGATGGATGGATTTACTTGTTCAGAATAGGAAGAAACACAAATTTCTTTGGATTTTTTTCTCTAAACTTTCTCTGCCTTAATAGATATTTTTACTCTAATTAATTAATCTTATACTATTGATTCTAATTTGGTCCCAATATTTTAACATTAGAAATATTTTTTAAAAATCTAAATGACTTGGGGTAGAATTTTCAGAAAAGGGCGACTTATATCTAAGTTTCCTAATTATTGATGTGAGGCCCCCTTTACTTGGAGACTCATCTCTGTCATTTGTTCTCATCCTTCATCTCATCAGGTATTCTTTCAAAATGATA... |
Task1_train_5405 | The gene ERBB4 (erb-b2 receptor tyrosine kinase 4), on Chromosome 2, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; not provided | GAAAAATGTTGTTTTAATCGTAATGATCTGAGAAAGAAAGCAAGCTAGTGAAAGAAACGACTCAATTGGTAAGGCTTTATCGGTCTCTTTGTTGATATTCATAACTAAATGTAATGTACTGTAAAACAAAAGATAAATTTTTTCTCTGATGTGTATAGACGTGACTGCAATATAAGTTATTATTTTGTATTAGGAGTGACATAGGAGAGAAGATTTGGTTACAATGCTTACACTGGCACAAACGGGAAAAGAGGAATTAAAAGCAACTTTCTTGTGCTACATTTGTCCTGGTGGACAAAAAAAAAAAAAAAAAAACTAAT... | GAAAAATGTTGTTTTAATCGTAATGATCTGAGAAAGAAAGCAAGCTAGTGAAAGAAACGACTCAATTGGTAAGGCTTTATCGGTCTCTTTGTTGATATTCATAACTAAATGTAATGTACTGTAAAACAAAAGATAAATTTTTTCTCTGATGTGTATAGACGTGACTGCAATATAAGTTATTATTTTGTATTAGGAGTGACATAGGAGAGAAGATTTGGTTACAATGCTTACACTGGCACAAACGGGAAAAGAGGAATTAAAAGCAACTTTCTTGTGCTACATTTGTCCTGGTGGACAAAAAAAAAAAAAAAAAAACTAAT... |
Task1_train_5406 | The variant affects gene BARD1 (BRCA1 associated RING domain 1), which is on Chromosome 2. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Hereditary cancer-predisposing syndrome | TTAAAAAGAAAAACCTTTAAAAGCAATCCCAGCTTCTAAATGGTAAACATAACATGAATTCCTAATCTGGCATTAGACTTTTTTTTTTTTTTTGATTCAAAGACAAATATGAATGACTCTACCTATTTGTAAAAATGTGAACATTAAAAACAGTACAATGACTGGGCTCTCACAAACCGTGCAAATTCAATTTGAAATGTTCATCTGGTATAATATTCAGCTGTCAAGAGGAAGCAACTCAAAGGACATCACACAGTCTATAAACCAGCTCGAAGGAGCCTTCCAGACTTTGCCCTGCCGAACCCTCTCTGGGTGATAAT... | TTAAAAAGAAAAACCTTTAAAAGCAATCCCAGCTTCTAAATGGTAAACATAACATGAATTCCTAATCTGGCATTAGACTTTTTTTTTTTTTTTGATTCAAAGACAAATATGAATGACTCTACCTATTTGTAAAAATGTGAACATTAAAAACAGTACAATGACTGGGCTCTCACAAACCGTGCAAATTCAATTTGAAATGTTCATCTGGTATAATATTCAGCTGTCAAGAGGAAGCAACTCAAAGGACATCACACAGTCTATAAACCAGCTCGAAGGAGCCTTCCAGACTTTGCCCTGCCGAACCCTCTCTGGGTGATAAT... |
Task1_train_5407 | A genetic alteration is present in BARD1 (BRCA1 associated RING domain 1) on Chromosome 2. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Familial cancer of breast | TTAAAAAGAAAAACCTTTAAAAGCAATCCCAGCTTCTAAATGGTAAACATAACATGAATTCCTAATCTGGCATTAGACTTTTTTTTTTTTTTTGATTCAAAGACAAATATGAATGACTCTACCTATTTGTAAAAATGTGAACATTAAAAACAGTACAATGACTGGGCTCTCACAAACCGTGCAAATTCAATTTGAAATGTTCATCTGGTATAATATTCAGCTGTCAAGAGGAAGCAACTCAAAGGACATCACACAGTCTATAAACCAGCTCGAAGGAGCCTTCCAGACTTTGCCCTGCCGAACCCTCTCTGGGTGATAAT... | TTAAAAAGAAAAACCTTTAAAAGCAATCCCAGCTTCTAAATGGTAAACATAACATGAATTCCTAATCTGGCATTAGACTTTTTTTTTTTTTTTGATTCAAAGACAAATATGAATGACTCTACCTATTTGTAAAAATGTGAACATTAAAAACAGTACAATGACTGGGCTCTCACAAACCGTGCAAATTCAATTTGAAATGTTCATCTGGTATAATATTCAGCTGTCAAGAGGAAGCAACTCAAAGGACATCACACAGTCTATAAACCAGCTCGAAGGAGCCTTCCAGACTTTGCCCTGCCGAACCCTCTCTGGGTGATAAT... |
Task1_train_5408 | A variant on Chromosome 2 in gene ABCA12 (ATP binding cassette subfamily A member 12) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; not provided | GCAGAGCAGCTATAGAGGCCATAAACCATTGCTTCCTCAATAGAGCTCTGTGGCTAATAATTTCAGCACTCCCTCTAAAAACAGGTTCAAATATAGCATTCTCTCCGAAAGCCTGCCACCACGCACACCTTCATAGGTGATAAAATGATGGTATTCATCAACTCTGCGTATATTTTAAGTTTTCCATCAGAAATTATGCAGCACAAAAATCATGATCTTCATTTAGCTGATAAGAAAAAATACAAAGCTGCTTAATTTAAAATGAATTCCAATTAAACAGAGTGAACAAGTTTAAATGCAAACTCATATCTCTGCAAAAG... | GCAGAGCAGCTATAGAGGCCATAAACCATTGCTTCCTCAATAGAGCTCTGTGGCTAATAATTTCAGCACTCCCTCTAAAAACAGGTTCAAATATAGCATTCTCTCCGAAAGCCTGCCACCACGCACACCTTCATAGGTGATAAAATGATGGTATTCATCAACTCTGCGTATATTTTAAGTTTTCCATCAGAAATTATGCAGCACAAAAATCATGATCTTCATTTAGCTGATAAGAAAAAATACAAAGCTGCTTAATTTAAAATGAATTCCAATTAAACAGAGTGAACAAGTTTAAATGCAAACTCATATCTCTGCAAAAG... |
Task1_train_5409 | This mutation occurs in ABCA12 (ATP binding cassette subfamily A member 12) on Chromosome 2. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Autosomal recessive congenital ichthyosis 4B | TTACTGAGACAAATTTTTCCCGTCTGACTTCAAGTGAATATTTCTGTATGTAAAAGATACGTGCTGTCTAGCTGGGGCAACATTTTATTCTCAGTCTTACATAAGAATAGTACTGAAAAAATGTTAAGCTTTTCTAATTTTGTGAACTATTTTAAAAATTTTTTTAGAAAAATGGCACATATTTCTTCAAAGGGAACAGCAAGTTATATCAGCTTGAAGAAAAAAAAGAAATATTGAGGTATACCTCCTCCACGGTGGTATCTGAAATGCCGTAGCACCCGATGTTGAGGTCACCCATGCCATTGTCGAGTGCCCGTAGG... | TTACTGAGACAAATTTTTCCCGTCTGACTTCAAGTGAATATTTCTGTATGTAAAAGATACGTGCTGTCTAGCTGGGGCAACATTTTATTCTCAGTCTTACATAAGAATAGTACTGAAAAAATGTTAAGCTTTTCTAATTTTGTGAACTATTTTAAAAATTTTTTTAGAAAAATGGCACATATTTCTTCAAAGGGAACAGCAAGTTATATCAGCTTGAAGAAAAAAAAGAAATATTGAGGTATACCTCCTCCACGGTGGTATCTGAAATGCCGTAGCACCCGATGTTGAGGTCACCCATGCCATTGTCGAGTGCCCGTAGG... |
Task1_train_5410 | A variant found in Chromosome 2 affects ABCA12 (ATP binding cassette subfamily A member 12). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Autosomal recessive congenital ichthyosis 4A | TTACTGAGACAAATTTTTCCCGTCTGACTTCAAGTGAATATTTCTGTATGTAAAAGATACGTGCTGTCTAGCTGGGGCAACATTTTATTCTCAGTCTTACATAAGAATAGTACTGAAAAAATGTTAAGCTTTTCTAATTTTGTGAACTATTTTAAAAATTTTTTTAGAAAAATGGCACATATTTCTTCAAAGGGAACAGCAAGTTATATCAGCTTGAAGAAAAAAAAGAAATATTGAGGTATACCTCCTCCACGGTGGTATCTGAAATGCCGTAGCACCCGATGTTGAGGTCACCCATGCCATTGTCGAGTGCCCGTAGG... | TTACTGAGACAAATTTTTCCCGTCTGACTTCAAGTGAATATTTCTGTATGTAAAAGATACGTGCTGTCTAGCTGGGGCAACATTTTATTCTCAGTCTTACATAAGAATAGTACTGAAAAAATGTTAAGCTTTTCTAATTTTGTGAACTATTTTAAAAATTTTTTTAGAAAAATGGCACATATTTCTTCAAAGGGAACAGCAAGTTATATCAGCTTGAAGAAAAAAAAGAAATATTGAGGTATACCTCCTCCACGGTGGTATCTGAAATGCCGTAGCACCCGATGTTGAGGTCACCCATGCCATTGTCGAGTGCCCGTAGG... |
Task1_train_5411 | This genomic variant is located on Chromosome 2, within the ABCA12 (ATP binding cassette subfamily A member 12) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; ABCA12-related disorder | CACATTGGTTCTGAATGTGCAGTCCTCAGACCAGCAACATCAGCGTCACCTGGGAATTTGATAAAAATATAATACATTCTGCACTCCCATCCCAGACCTACAGGATCAGACACTCTTGGGGTGGGGCCAGAACTCTGGGTTTTAGTCAAGACCTCCAGGATTTCGATGCTCACTCAAATATGAGAAGCAGTAAGCTAGTATACTAATGAATTTTAGCAATGAATAAAGTTGGAGAGACTCTGCTCCTATTTCATATAAAACTTAATTTATGGTGCCATAATGAGATATATTTTCTCCCATTCCTACCTTCTTCTTGGTAA... | CACATTGGTTCTGAATGTGCAGTCCTCAGACCAGCAACATCAGCGTCACCTGGGAATTTGATAAAAATATAATACATTCTGCACTCCCATCCCAGACCTACAGGATCAGACACTCTTGGGGTGGGGCCAGAACTCTGGGTTTTAGTCAAGACCTCCAGGATTTCGATGCTCACTCAAATATGAGAAGCAGTAAGCTAGTATACTAATGAATTTTAGCAATGAATAAAGTTGGAGAGACTCTGCTCCTATTTCATATAAAACTTAATTTATGGTGCCATAATGAGATATATTTTCTCCCATTCCTACCTTCTTCTTGGTAA... |
Task1_train_5412 | Given a variant located on Chromosome 2 and affecting ABCA12 (ATP binding cassette subfamily A member 12), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Lamellar ichthyosis | CACATTGGTTCTGAATGTGCAGTCCTCAGACCAGCAACATCAGCGTCACCTGGGAATTTGATAAAAATATAATACATTCTGCACTCCCATCCCAGACCTACAGGATCAGACACTCTTGGGGTGGGGCCAGAACTCTGGGTTTTAGTCAAGACCTCCAGGATTTCGATGCTCACTCAAATATGAGAAGCAGTAAGCTAGTATACTAATGAATTTTAGCAATGAATAAAGTTGGAGAGACTCTGCTCCTATTTCATATAAAACTTAATTTATGGTGCCATAATGAGATATATTTTCTCCCATTCCTACCTTCTTCTTGGTAA... | CACATTGGTTCTGAATGTGCAGTCCTCAGACCAGCAACATCAGCGTCACCTGGGAATTTGATAAAAATATAATACATTCTGCACTCCCATCCCAGACCTACAGGATCAGACACTCTTGGGGTGGGGCCAGAACTCTGGGTTTTAGTCAAGACCTCCAGGATTTCGATGCTCACTCAAATATGAGAAGCAGTAAGCTAGTATACTAATGAATTTTAGCAATGAATAAAGTTGGAGAGACTCTGCTCCTATTTCATATAAAACTTAATTTATGGTGCCATAATGAGATATATTTTCTCCCATTCCTACCTTCTTCTTGGTAA... |
Task1_train_5413 | An alteration has been detected in ABCA12 (ATP binding cassette subfamily A member 12) on Chromosome 2. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Autosomal recessive congenital ichthyosis 4A | TTCATTATTCAGCTCCAGGATTGCTCTATATATCTATCAGACAATACCACTTCTCTGTGAGATTTCTTACAGGGTCCTTCAACTCAGTATGTTTAAAACCGAGCTCATGATCTTTACCCTAAAAGCCACACCCTCATTGATTTTGCCTCTTTCCCCATGTGATAAATTCATACACTGGTTGCACGAGACTGGAATCTGTAAGTCATTTTTGCACTCTCCTCCTATCTTAATCTCCTAACTACATGCCCATCTCACCGTTTTCACAGCTATCCTCATGGGACCATCACCATCACCACCTGCCTAACCCATCACTCTAAGCT... | TTCATTATTCAGCTCCAGGATTGCTCTATATATCTATCAGACAATACCACTTCTCTGTGAGATTTCTTACAGGGTCCTTCAACTCAGTATGTTTAAAACCGAGCTCATGATCTTTACCCTAAAAGCCACACCCTCATTGATTTTGCCTCTTTCCCCATGTGATAAATTCATACACTGGTTGCACGAGACTGGAATCTGTAAGTCATTTTTGCACTCTCCTCCTATCTTAATCTCCTAACTACATGCCCATCTCACCGTTTTCACAGCTATCCTCATGGGACCATCACCATCACCACCTGCCTAACCCATCACTCTAAGCT... |
Task1_train_5414 | This mutation occurs in ABCA12 (ATP binding cassette subfamily A member 12) on Chromosome 2. Does this change lead to a known medical condition, or is it benign? | Pathogenic; not provided | GACATTTTCATCCATGACTAAAAGGATGATAATTTTGCCATTTAGAAAAAAATAATTGAAACTACTAGTCATGTAATTTCATATCATTTCTCTCATAACAAAGCACGCTGTTGACCGACTTGTCTTACTGGCAGATGGGTTGGTGTTCTGCATCATGATGTTAGTAAACATGAGGCCATTGCTCTTCTCAGGCTTCACCTCTGCACACCCAAATCGCTCCTTCCAATAGGAAGGAAGAATTGGAAAATACCAGGGAGCTGCCATACCGTATGTCCCTGGAATAAAAATATATCAGGAACAGTGAGTTTTAGTTGACTGTT... | GACATTTTCATCCATGACTAAAAGGATGATAATTTTGCCATTTAGAAAAAAATAATTGAAACTACTAGTCATGTAATTTCATATCATTTCTCTCATAACAAAGCACGCTGTTGACCGACTTGTCTTACTGGCAGATGGGTTGGTGTTCTGCATCATGATGTTAGTAAACATGAGGCCATTGCTCTTCTCAGGCTTCACCTCTGCACACCCAAATCGCTCCTTCCAATAGGAAGGAAGAATTGGAAAATACCAGGGAGCTGCCATACCGTATGTCCCTGGAATAAAAATATATCAGGAACAGTGAGTTTTAGTTGACTGTT... |
Task1_train_5415 | This sequence change occurs on Chromosome 2, altering ABCA12 (ATP binding cassette subfamily A member 12). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Autosomal recessive congenital ichthyosis 4B | GGATGATAATTTTGCCATTTAGAAAAAAATAATTGAAACTACTAGTCATGTAATTTCATATCATTTCTCTCATAACAAAGCACGCTGTTGACCGACTTGTCTTACTGGCAGATGGGTTGGTGTTCTGCATCATGATGTTAGTAAACATGAGGCCATTGCTCTTCTCAGGCTTCACCTCTGCACACCCAAATCGCTCCTTCCAATAGGAAGGAAGAATTGGAAAATACCAGGGAGCTGCCATACCGTATGTCCCTGGAATAAAAATATATCAGGAACAGTGAGTTTTAGTTGACTGTTAACATTTATCATCAGAAACAAAA... | GGATGATAATTTTGCCATTTAGAAAAAAATAATTGAAACTACTAGTCATGTAATTTCATATCATTTCTCTCATAACAAAGCACGCTGTTGACCGACTTGTCTTACTGGCAGATGGGTTGGTGTTCTGCATCATGATGTTAGTAAACATGAGGCCATTGCTCTTCTCAGGCTTCACCTCTGCACACCCAAATCGCTCCTTCCAATAGGAAGGAAGAATTGGAAAATACCAGGGAGCTGCCATACCGTATGTCCCTGGAATAAAAATATATCAGGAACAGTGAGTTTTAGTTGACTGTTAACATTTATCATCAGAAACAAAA... |
Task1_train_5416 | A variant on Chromosome 2 in gene ABCA12 (ATP binding cassette subfamily A member 12) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Autosomal recessive congenital ichthyosis 4B | AATTCACTCCATCTTTTAAAGGAATATCCGAGAGGAAATTTAGCAGTATATTATCTCATCCTGAAAATTTTTTGTTAGCTTTGGGATTTGAATACTTCTTTTTGGAGATTATATATGGCAAATAAGATTTTTTTTTAATTAAAAAAAAGTTAAAGGCCGGGCATGGTGGCTCTTGCCCGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCAGATGACTTGAGATCAGAAGCTCGAGAGCAGCCTGGCTAACATGGTGAAACCCCGGCTCTATTAAAAATACAAAAATTAGCCGGGCGTGGTGGCACGTGCCTATAATCC... | AATTCACTCCATCTTTTAAAGGAATATCCGAGAGGAAATTTAGCAGTATATTATCTCATCCTGAAAATTTTTTGTTAGCTTTGGGATTTGAATACTTCTTTTTGGAGATTATATATGGCAAATAAGATTTTTTTTTAATTAAAAAAAAGTTAAAGGCCGGGCATGGTGGCTCTTGCCCGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCAGATGACTTGAGATCAGAAGCTCGAGAGCAGCCTGGCTAACATGGTGAAACCCCGGCTCTATTAAAAATACAAAAATTAGCCGGGCGTGGTGGCACGTGCCTATAATCC... |
Task1_train_5417 | This genomic variant is located on Chromosome 2, within the ABCA12 (ATP binding cassette subfamily A member 12) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Lamellar ichthyosis | GTTTATGTGTTGGGCTCCACTCAAGCTTTCACTTGGAGAAAGGTCCCAAGGCCATTTCCTTTTTTAATCTACAAGACTAAAAAATTACCTCCAAGTACCCCAAGAAAAATGTAAATATTAATGAAGCATGAGATCACTATCATTCAGTATCACTTTAGCATGCAGAAGTGTGTCATTATCAGAGAGATGAGGTGTTTTTTTGGTGAGGGAGCAGTGGGAGTTGAGGCCATATTCCATTTTTTTTGTTGTTGTTTCCTGGGAAACTGTATGGCATGGGGTAGGCATTTACAGACTACTTCTTGAATGAATTTTGTTTTGGT... | GTTTATGTGTTGGGCTCCACTCAAGCTTTCACTTGGAGAAAGGTCCCAAGGCCATTTCCTTTTTTAATCTACAAGACTAAAAAATTACCTCCAAGTACCCCAAGAAAAATGTAAATATTAATGAAGCATGAGATCACTATCATTCAGTATCACTTTAGCATGCAGAAGTGTGTCATTATCAGAGAGATGAGGTGTTTTTTTGGTGAGGGAGCAGTGGGAGTTGAGGCCATATTCCATTTTTTTTGTTGTTGTTTCCTGGGAAACTGTATGGCATGGGGTAGGCATTTACAGACTACTTCTTGAATGAATTTTGTTTTGGT... |
Task1_train_5418 | The gene FN1, LOC126806496 (fibronectin 1| CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:216240057-216241256), on Chromosome 2, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Glomerulopathy with fibronectin deposits 2 | ATAGACATTTTTTGGCTAACTTTTCCAGGGTATTCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTGGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCTATCTCGGCTCACTGCAAGCTCCGCTTCCCAGGTTCAGCCATTCTCCTGCCTCAGCCACCCGAGTAGCTGGGACTACAGGCACCCATCACCACGCCTGGCTAATTTTGTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTA... | ATAGACATTTTTTGGCTAACTTTTCCAGGGTATTCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTGGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCTATCTCGGCTCACTGCAAGCTCCGCTTCCCAGGTTCAGCCATTCTCCTGCCTCAGCCACCCGAGTAGCTGGGACTACAGGCACCCATCACCACGCCTGGCTAATTTTGTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTA... |
Task1_train_5419 | This sequence change occurs on Chromosome 2, altering FN1, LOC126806496 (fibronectin 1| CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:216240057-216241256). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Glomerulopathy with fibronectin deposits 2 | ATAGACATTTTTTGGCTAACTTTTCCAGGGTATTCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTGGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCTATCTCGGCTCACTGCAAGCTCCGCTTCCCAGGTTCAGCCATTCTCCTGCCTCAGCCACCCGAGTAGCTGGGACTACAGGCACCCATCACCACGCCTGGCTAATTTTGTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTA... | ATAGACATTTTTTGGCTAACTTTTCCAGGGTATTCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTGGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCTATCTCGGCTCACTGCAAGCTCCGCTTCCCAGGTTCAGCCATTCTCCTGCCTCAGCCACCCGAGTAGCTGGGACTACAGGCACCCATCACCACGCCTGGCTAATTTTGTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTA... |
Task1_train_5420 | The gene FN1 (fibronectin 1) on Chromosome 2 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Glomerulopathy with fibronectin deposits 2 | CCTTCCACCATGATTGTACATTTTCTGAGGCCTCCCCAGCCATGCGGAACTGTGAGTCAATTAAACCTCTTTATAGCAGTATGAAAACAGACTAATACAGATAGTTTAAATATTTCATCTCTTGGGCAAAAATAATACTAGAGGCTTATAGTCTTTCCCACCAAGGTAGACAACTCTTATTCCCCATTCCAGGCATTCTTCCAATGTGGGTGGTTGGGACTGCTCTGCCTCAAGACCTATCCTGTGATAGTGGTCAACAAGGTCAATGGCAGGTGGTGCACTGGCAAGTCCTGCAAGATTGCCATATCTATAGAGAGCTG... | CCTTCCACCATGATTGTACATTTTCTGAGGCCTCCCCAGCCATGCGGAACTGTGAGTCAATTAAACCTCTTTATAGCAGTATGAAAACAGACTAATACAGATAGTTTAAATATTTCATCTCTTGGGCAAAAATAATACTAGAGGCTTATAGTCTTTCCCACCAAGGTAGACAACTCTTATTCCCCATTCCAGGCATTCTTCCAATGTGGGTGGTTGGGACTGCTCTGCCTCAAGACCTATCCTGTGATAGTGGTCAACAAGGTCAATGGCAGGTGGTGCACTGGCAAGTCCTGCAAGATTGCCATATCTATAGAGAGCTG... |
Task1_train_5421 | An alteration has been detected in FN1 (fibronectin 1) on Chromosome 2. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Glomerulopathy with fibronectin deposits 2 | TTCCACCATGATTGTACATTTTCTGAGGCCTCCCCAGCCATGCGGAACTGTGAGTCAATTAAACCTCTTTATAGCAGTATGAAAACAGACTAATACAGATAGTTTAAATATTTCATCTCTTGGGCAAAAATAATACTAGAGGCTTATAGTCTTTCCCACCAAGGTAGACAACTCTTATTCCCCATTCCAGGCATTCTTCCAATGTGGGTGGTTGGGACTGCTCTGCCTCAAGACCTATCCTGTGATAGTGGTCAACAAGGTCAATGGCAGGTGGTGCACTGGCAAGTCCTGCAAGATTGCCATATCTATAGAGAGCTGAG... | TTCCACCATGATTGTACATTTTCTGAGGCCTCCCCAGCCATGCGGAACTGTGAGTCAATTAAACCTCTTTATAGCAGTATGAAAACAGACTAATACAGATAGTTTAAATATTTCATCTCTTGGGCAAAAATAATACTAGAGGCTTATAGTCTTTCCCACCAAGGTAGACAACTCTTATTCCCCATTCCAGGCATTCTTCCAATGTGGGTGGTTGGGACTGCTCTGCCTCAAGACCTATCCTGTGATAGTGGTCAACAAGGTCAATGGCAGGTGGTGCACTGGCAAGTCCTGCAAGATTGCCATATCTATAGAGAGCTGAG... |
Task1_train_5422 | Here is a mutation in FN1 (fibronectin 1) on Chromosome 2. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Inborn genetic diseases | TTTAGTAATTTCAAAAACATGCAAGCCTTGTGGATGTTTACAGCCTTAGGGAGTGCTTAAAGTTCAAATGGAGTTGTAGAATACCCTGCTTACATTAGTTTATTTAAATATAAGCTTCATTTAGCTGTTTTTATTATTATTCCTTTCTCAATTATCTATTCACCAAATAGTTTTTGAAAGCATACAATGTTCCAGACACTATGTTAACCTTTATCTAATAAAATTAGTTTTGGCTATCAGTACTTCAGTTAAAATCATTATATTTTATATGAATGTATTATGCAAAGCATAAAATAATATATCCAATATATCAGTCTTCA... | TTTAGTAATTTCAAAAACATGCAAGCCTTGTGGATGTTTACAGCCTTAGGGAGTGCTTAAAGTTCAAATGGAGTTGTAGAATACCCTGCTTACATTAGTTTATTTAAATATAAGCTTCATTTAGCTGTTTTTATTATTATTCCTTTCTCAATTATCTATTCACCAAATAGTTTTTGAAAGCATACAATGTTCCAGACACTATGTTAACCTTTATCTAATAAAATTAGTTTTGGCTATCAGTACTTCAGTTAAAATCATTATATTTTATATGAATGTATTATGCAAAGCATAAAATAATATATCCAATATATCAGTCTTCA... |
Task1_train_5423 | Given this variant in gene FN1 (fibronectin 1) on Chromosome 2, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Glomerulopathy with fibronectin deposits 2 | TTTTAGTATCACTGATTTAAATTATGTACTAATTTTTTAATGTTTTTTTTGTTTTGTTTTGTTTTGTTTTAAAGCATGAAGAATAGAGAATGTAAATATAGTTAAGAAAAGGCACTTAATTTTCAGCTTACGTGTGGTAAAGACTCCAGTGGCTTTGGGGCTCTCTTGGTTGCCCTTTATGGCCACGAGGGATACGGTGTACTCAGATGCAGGCTGCAGATTCCTCAGTGGGTACTTGGAGACAGAGGGACCCACATTGTACTGCCTGGGCTGTCCTCTTCGGGTAAGGCCCACGGTCAGTCGGTATCCTGTTATCTGGG... | TTTTAGTATCACTGATTTAAATTATGTACTAATTTTTTAATGTTTTTTTTGTTTTGTTTTGTTTTGTTTTAAAGCATGAAGAATAGAGAATGTAAATATAGTTAAGAAAAGGCACTTAATTTTCAGCTTACGTGTGGTAAAGACTCCAGTGGCTTTGGGGCTCTCTTGGTTGCCCTTTATGGCCACGAGGGATACGGTGTACTCAGATGCAGGCTGCAGATTCCTCAGTGGGTACTTGGAGACAGAGGGACCCACATTGTACTGCCTGGGCTGTCCTCTTCGGGTAAGGCCCACGGTCAGTCGGTATCCTGTTATCTGGG... |
Task1_train_5424 | With a mutation on Chromosome 2 in gene FN1 (fibronectin 1), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Spondylometaphyseal dysplasia - Sutcliffe type | TTTTAGTATCACTGATTTAAATTATGTACTAATTTTTTAATGTTTTTTTTGTTTTGTTTTGTTTTGTTTTAAAGCATGAAGAATAGAGAATGTAAATATAGTTAAGAAAAGGCACTTAATTTTCAGCTTACGTGTGGTAAAGACTCCAGTGGCTTTGGGGCTCTCTTGGTTGCCCTTTATGGCCACGAGGGATACGGTGTACTCAGATGCAGGCTGCAGATTCCTCAGTGGGTACTTGGAGACAGAGGGACCCACATTGTACTGCCTGGGCTGTCCTCTTCGGGTAAGGCCCACGGTCAGTCGGTATCCTGTTATCTGGG... | TTTTAGTATCACTGATTTAAATTATGTACTAATTTTTTAATGTTTTTTTTGTTTTGTTTTGTTTTGTTTTAAAGCATGAAGAATAGAGAATGTAAATATAGTTAAGAAAAGGCACTTAATTTTCAGCTTACGTGTGGTAAAGACTCCAGTGGCTTTGGGGCTCTCTTGGTTGCCCTTTATGGCCACGAGGGATACGGTGTACTCAGATGCAGGCTGCAGATTCCTCAGTGGGTACTTGGAGACAGAGGGACCCACATTGTACTGCCTGGGCTGTCCTCTTCGGGTAAGGCCCACGGTCAGTCGGTATCCTGTTATCTGGG... |
Task1_train_5425 | Given this context: Chromosome 2, gene FN1 (fibronectin 1) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Glomerulopathy with fibronectin deposits 2 | TTTTAGTATCACTGATTTAAATTATGTACTAATTTTTTAATGTTTTTTTTGTTTTGTTTTGTTTTGTTTTAAAGCATGAAGAATAGAGAATGTAAATATAGTTAAGAAAAGGCACTTAATTTTCAGCTTACGTGTGGTAAAGACTCCAGTGGCTTTGGGGCTCTCTTGGTTGCCCTTTATGGCCACGAGGGATACGGTGTACTCAGATGCAGGCTGCAGATTCCTCAGTGGGTACTTGGAGACAGAGGGACCCACATTGTACTGCCTGGGCTGTCCTCTTCGGGTAAGGCCCACGGTCAGTCGGTATCCTGTTATCTGGG... | TTTTAGTATCACTGATTTAAATTATGTACTAATTTTTTAATGTTTTTTTTGTTTTGTTTTGTTTTGTTTTAAAGCATGAAGAATAGAGAATGTAAATATAGTTAAGAAAAGGCACTTAATTTTCAGCTTACGTGTGGTAAAGACTCCAGTGGCTTTGGGGCTCTCTTGGTTGCCCTTTATGGCCACGAGGGATACGGTGTACTCAGATGCAGGCTGCAGATTCCTCAGTGGGTACTTGGAGACAGAGGGACCCACATTGTACTGCCTGGGCTGTCCTCTTCGGGTAAGGCCCACGGTCAGTCGGTATCCTGTTATCTGGG... |
Task1_train_5426 | Located on Chromosome 2, this mutation impacts FN1 (fibronectin 1). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; not provided | GTCATCACTGTTTATGGCCTGCCTTTCAATAGGGACCTTGCTTTAGAAAACTAAAAACAGGCTAAGCGCGGTGGCTCACGCCTGTAATCCTAGTACTTTAGGAGGGTGGATCACCTGCAGTCAGGAGTTCAAGACCAGCCTGGGCAACATGGTGAAACCCCCGTCTCTACTAAAAATACCAAAAAAAATTAGCCGGCTGTGGTGGCGGGCGCCTGTAATCCAAGCTACTCGGGAAGCTGAGGCAAGAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAATGAGCTGAGATCACACCATTGCACTCCAGCCTGGGCGACA... | GTCATCACTGTTTATGGCCTGCCTTTCAATAGGGACCTTGCTTTAGAAAACTAAAAACAGGCTAAGCGCGGTGGCTCACGCCTGTAATCCTAGTACTTTAGGAGGGTGGATCACCTGCAGTCAGGAGTTCAAGACCAGCCTGGGCAACATGGTGAAACCCCCGTCTCTACTAAAAATACCAAAAAAAATTAGCCGGCTGTGGTGGCGGGCGCCTGTAATCCAAGCTACTCGGGAAGCTGAGGCAAGAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAATGAGCTGAGATCACACCATTGCACTCCAGCCTGGGCGACA... |
Task1_train_5427 | Assess the clinical impact of this variant on gene FN1 (fibronectin 1), found on Chromosome 2. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; not provided | CTTGCTTTAGAAAACTAAAAACAGGCTAAGCGCGGTGGCTCACGCCTGTAATCCTAGTACTTTAGGAGGGTGGATCACCTGCAGTCAGGAGTTCAAGACCAGCCTGGGCAACATGGTGAAACCCCCGTCTCTACTAAAAATACCAAAAAAAATTAGCCGGCTGTGGTGGCGGGCGCCTGTAATCCAAGCTACTCGGGAAGCTGAGGCAAGAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAATGAGCTGAGATCACACCATTGCACTCCAGCCTGGGCGACAGGGTGAGACTGTCTCAAAAACAAAACAAAACAAAAC... | CTTGCTTTAGAAAACTAAAAACAGGCTAAGCGCGGTGGCTCACGCCTGTAATCCTAGTACTTTAGGAGGGTGGATCACCTGCAGTCAGGAGTTCAAGACCAGCCTGGGCAACATGGTGAAACCCCCGTCTCTACTAAAAATACCAAAAAAAATTAGCCGGCTGTGGTGGCGGGCGCCTGTAATCCAAGCTACTCGGGAAGCTGAGGCAAGAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAATGAGCTGAGATCACACCATTGCACTCCAGCCTGGGCGACAGGGTGAGACTGTCTCAAAAACAAAACAAAACAAAAC... |
Task1_train_5428 | Chromosome 2 houses a mutation in gene FN1 (fibronectin 1). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Spondylometaphyseal dysplasia - Sutcliffe type | ACTATCTTAATAGAATCTATTGGTAACCCAGTGAATCATACTGGAAAGAGTGCCTTAGCTAAACTAGAGTTGAGAATCAGCCCGGTTCCCAAAGTTCCTTAGCAAACTCTATTGGGTTAATAATTTTGTATTATCCCTAGGAATAGTGACATCTGCTTCCTGGGTATAACCTACTGGTCACCAAGAAACCAGACTGTTTCTGTGAGGTGCAAGAGGTCTCTGCATTGCAAACATGAAGACCAGACAACACATGGCTGGTTCACTCTTCATGAACACCTTCCCAGTCACTGCAGAAAAGTCTCATGATTTGTCTAGCTTGA... | ACTATCTTAATAGAATCTATTGGTAACCCAGTGAATCATACTGGAAAGAGTGCCTTAGCTAAACTAGAGTTGAGAATCAGCCCGGTTCCCAAAGTTCCTTAGCAAACTCTATTGGGTTAATAATTTTGTATTATCCCTAGGAATAGTGACATCTGCTTCCTGGGTATAACCTACTGGTCACCAAGAAACCAGACTGTTTCTGTGAGGTGCAAGAGGTCTCTGCATTGCAAACATGAAGACCAGACAACACATGGCTGGTTCACTCTTCATGAACACCTTCCCAGTCACTGCAGAAAAGTCTCATGATTTGTCTAGCTTGA... |
Task1_train_5429 | With a mutation on Chromosome 2 in gene SMARCAL1 (SNF2 related chromatin remodeling annealing helicase 1), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Schimke immuno-osseous dysplasia | AGGTACAATAGATAGTAACCCCATTTATAGATGAGAAAATGGAATCTCAGAGGTTAAGCTCCATGCTTCCTCTTAATGAGGAGCCCTGGCGGATCTTGATGTGGCATCTTCTGACTTCCCAACTCAGGGGTTTTGCACTCTGTAGAGGGGGGAGTGAGTGGGATGTTCACTGTCTGCCAGGTAGCTTTATGGATCCAGAGCCTGACAAGAAAACTGTATCACTCACCCTTGAGCTTTTTTTGCTGTAAATCCAGGAATCAGAGTGCTTTTGTGAAATGAATAAAAAGCCCATGAACAAACTCAGTGAAGAAGGAAGACCT... | AGGTACAATAGATAGTAACCCCATTTATAGATGAGAAAATGGAATCTCAGAGGTTAAGCTCCATGCTTCCTCTTAATGAGGAGCCCTGGCGGATCTTGATGTGGCATCTTCTGACTTCCCAACTCAGGGGTTTTGCACTCTGTAGAGGGGGGAGTGAGTGGGATGTTCACTGTCTGCCAGGTAGCTTTATGGATCCAGAGCCTGACAAGAAAACTGTATCACTCACCCTTGAGCTTTTTTTGCTGTAAATCCAGGAATCAGAGTGCTTTTGTGAAATGAATAAAAAGCCCATGAACAAACTCAGTGAAGAAGGAAGACCT... |
Task1_train_5430 | A variant affecting Chromosome 2, within the gene SMARCAL1 (SNF2 related chromatin remodeling annealing helicase 1), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Schimke immuno-osseous dysplasia | TGTCAGTACTGAGTATATTTACATAACTCACACAAATATTGTGGGAGCTTAGAGAAAGGAAGGAGAAGATACCGTTACTGACCTCAGGGGATCTATTATTCTGTTTTGGACATGAGAACCACACTGTGTTCTTAGCATAAGCAAACTTGAGTGTTGATAGTTTTGCAAAGTGATATAGGTAATGAGTCTTTGGGGGAGTCATTTTTGGTTCGGCACAAATTCAAGTGTGGCTTTGAAAAGATGTCAGCATACATGTGAAATGAAAACATTCCAAGAAGTTTCCCAGGATGATGGGGATGGCTCTACAGTGTGTGGGAAGA... | TGTCAGTACTGAGTATATTTACATAACTCACACAAATATTGTGGGAGCTTAGAGAAAGGAAGGAGAAGATACCGTTACTGACCTCAGGGGATCTATTATTCTGTTTTGGACATGAGAACCACACTGTGTTCTTAGCATAAGCAAACTTGAGTGTTGATAGTTTTGCAAAGTGATATAGGTAATGAGTCTTTGGGGGAGTCATTTTTGGTTCGGCACAAATTCAAGTGTGGCTTTGAAAAGATGTCAGCATACATGTGAAATGAAAACATTCCAAGAAGTTTCCCAGGATGATGGGGATGGCTCTACAGTGTGTGGGAAGA... |
Task1_train_5431 | This alteration occurs within gene SMARCAL1 (SNF2 related chromatin remodeling annealing helicase 1) located on Chromosome 2. Is it associated with a disease or is it a benign variant? | Pathogenic; Schimke immuno-osseous dysplasia | TTACTAAGTTTTAACCTACAAGGTTAAGAGCTAACAATATTAGAACATAGGAGCATGCTATCTGTCTTAGTCTGTTTTCTGTTGCTGTAACTAAATACCACAGACTAAGTAACTTACAAAGAATAGAGGTTTATTTAGCTCATGGTTCTGGAGACTGGGAAGTTCAAGAGCATGGCACTGGCATCTAGTGAGGGCCTTCTTGCTCTTCATAACATGGCAGAAGGCATCATATGGAGAAGAGGGCAAGAGCATATGTGTCAGCTCAGGTCTCTGGTCCTTTTCTTATAAAGCTACCAGTCCCAACATGGGGGACCCACCAT... | TTACTAAGTTTTAACCTACAAGGTTAAGAGCTAACAATATTAGAACATAGGAGCATGCTATCTGTCTTAGTCTGTTTTCTGTTGCTGTAACTAAATACCACAGACTAAGTAACTTACAAAGAATAGAGGTTTATTTAGCTCATGGTTCTGGAGACTGGGAAGTTCAAGAGCATGGCACTGGCATCTAGTGAGGGCCTTCTTGCTCTTCATAACATGGCAGAAGGCATCATATGGAGAAGAGGGCAAGAGCATATGTGTCAGCTCAGGTCTCTGGTCCTTTTCTTATAAAGCTACCAGTCCCAACATGGGGGACCCACCAT... |
Task1_train_5432 | A variant on Chromosome 2 in gene SMARCAL1 (SNF2 related chromatin remodeling annealing helicase 1) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Schimke immuno-osseous dysplasia | ACTAAGTTTTAACCTACAAGGTTAAGAGCTAACAATATTAGAACATAGGAGCATGCTATCTGTCTTAGTCTGTTTTCTGTTGCTGTAACTAAATACCACAGACTAAGTAACTTACAAAGAATAGAGGTTTATTTAGCTCATGGTTCTGGAGACTGGGAAGTTCAAGAGCATGGCACTGGCATCTAGTGAGGGCCTTCTTGCTCTTCATAACATGGCAGAAGGCATCATATGGAGAAGAGGGCAAGAGCATATGTGTCAGCTCAGGTCTCTGGTCCTTTTCTTATAAAGCTACCAGTCCCAACATGGGGGACCCACCATGA... | ACTAAGTTTTAACCTACAAGGTTAAGAGCTAACAATATTAGAACATAGGAGCATGCTATCTGTCTTAGTCTGTTTTCTGTTGCTGTAACTAAATACCACAGACTAAGTAACTTACAAAGAATAGAGGTTTATTTAGCTCATGGTTCTGGAGACTGGGAAGTTCAAGAGCATGGCACTGGCATCTAGTGAGGGCCTTCTTGCTCTTCATAACATGGCAGAAGGCATCATATGGAGAAGAGGGCAAGAGCATATGTGTCAGCTCAGGTCTCTGGTCCTTTTCTTATAAAGCTACCAGTCCCAACATGGGGGACCCACCATGA... |
Task1_train_5433 | A variant on Chromosome 2 in gene SMARCAL1 (SNF2 related chromatin remodeling annealing helicase 1) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Schimke immuno-osseous dysplasia | TGTGGAGAAAAGGACATTCAGGATGTACTTTTTTTTTTTGAGATTTATCCATGTTGTTGTGTGTCTCGTTCCTTTTTAGTGTTCACTCCTTGGTTTTCCTTTTTTTTTTTTTTCTTTTTTGGTTATCTAGACCTGCAGATGTTCACTCCCTTTTAGTGCTAAATAACATCCCATTGTACATCATCTGTTCACTTGTTGATGGACATTTACCAACATATCCTTTTAGGAAAAATTTGAGACCCCTAAATCTGCAGAAATAGAAGGGTTAAATTATGCTGTTGCTGCATAATGACAAAGGGCCATTAAAAATGATATTTTAG... | TGTGGAGAAAAGGACATTCAGGATGTACTTTTTTTTTTTGAGATTTATCCATGTTGTTGTGTGTCTCGTTCCTTTTTAGTGTTCACTCCTTGGTTTTCCTTTTTTTTTTTTTTCTTTTTTGGTTATCTAGACCTGCAGATGTTCACTCCCTTTTAGTGCTAAATAACATCCCATTGTACATCATCTGTTCACTTGTTGATGGACATTTACCAACATATCCTTTTAGGAAAAATTTGAGACCCCTAAATCTGCAGAAATAGAAGGGTTAAATTATGCTGTTGCTGCATAATGACAAAGGGCCATTAAAAATGATATTTTAG... |
Task1_train_5434 | A change on Chromosome 2 affects gene CATIP-AS2, CATIP (CATIP antisense RNA 2| ciliogenesis associated TTC17 interacting protein). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Spermatogenic failure 54 | TGGTTCCTCTTTGAAGTTTGTAGTAGATGGCGGTAGAAGAAATAGTGAAAGTCCTAAAGTCTTTGATCCTTCTTATAAGTGCATAGAAGAAAACGCTGATGTATGCTGCCGTCTCTCTCTCTGCTTCGGCTACCTAAGAGGGAAGGGCCCCCTGTCCTGTGATCATGTGACTTGCTTCACCTTGTCAATCACTTAGAAGACTCGCCCTCCTTACCGTGCCCCCTTGTCTTGTGTGCAATAAATATCAGCGCGCCCAGCCGTTCTGGGCCACTACCAGTCTCCATGTCTTGATGGTAGTGGTCTCCCGGGCCCAGCTGTTT... | TGGTTCCTCTTTGAAGTTTGTAGTAGATGGCGGTAGAAGAAATAGTGAAAGTCCTAAAGTCTTTGATCCTTCTTATAAGTGCATAGAAGAAAACGCTGATGTATGCTGCCGTCTCTCTCTCTGCTTCGGCTACCTAAGAGGGAAGGGCCCCCTGTCCTGTGATCATGTGACTTGCTTCACCTTGTCAATCACTTAGAAGACTCGCCCTCCTTACCGTGCCCCCTTGTCTTGTGTGCAATAAATATCAGCGCGCCCAGCCGTTCTGGGCCACTACCAGTCTCCATGTCTTGATGGTAGTGGTCTCCCGGGCCCAGCTGTTT... |
Task1_train_5435 | The gene CNOT9 (CCR4-NOT transcription complex subunit 9) on Chromosome 2 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; See cases | GCTCAATTTTCTGACTGATAGTCATGCCTGGGAAAATGAGTAGAAAATGAGAAGATTAAATCTGAGCAACTTTATAAACTCTTCGATTTTGTTTTGCTTCAGGTTGCCACATTCATCCTCCAGAAGATCTTGTTAGATGACACTGGTTTGGCTTATATATGTCAGACGTATGAGCGTTTCTCCCATGTTGCCATGATCTTGGTGAGTTCTTTCATCTATCCCCTTTACAACTACTTCTCATCACAAAGCTTAATCTCTTTATAACTGGCATTGAACAACTTCAGTCCTCTGACTAGAACTAACAATTTTGGAACCTTTTA... | GCTCAATTTTCTGACTGATAGTCATGCCTGGGAAAATGAGTAGAAAATGAGAAGATTAAATCTGAGCAACTTTATAAACTCTTCGATTTTGTTTTGCTTCAGGTTGCCACATTCATCCTCCAGAAGATCTTGTTAGATGACACTGGTTTGGCTTATATATGTCAGACGTATGAGCGTTTCTCCCATGTTGCCATGATCTTGGTGAGTTCTTTCATCTATCCCCTTTACAACTACTTCTCATCACAAAGCTTAATCTCTTTATAACTGGCATTGAACAACTTCAGTCCTCTGACTAGAACTAACAATTTTGGAACCTTTTA... |
Task1_train_5436 | This alteration in CNOT9 (CCR4-NOT transcription complex subunit 9) on Chromosome 2 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; CNOT9-associated neurodevelopmental disorder | GCTCAATTTTCTGACTGATAGTCATGCCTGGGAAAATGAGTAGAAAATGAGAAGATTAAATCTGAGCAACTTTATAAACTCTTCGATTTTGTTTTGCTTCAGGTTGCCACATTCATCCTCCAGAAGATCTTGTTAGATGACACTGGTTTGGCTTATATATGTCAGACGTATGAGCGTTTCTCCCATGTTGCCATGATCTTGGTGAGTTCTTTCATCTATCCCCTTTACAACTACTTCTCATCACAAAGCTTAATCTCTTTATAACTGGCATTGAACAACTTCAGTCCTCTGACTAGAACTAACAATTTTGGAACCTTTTA... | GCTCAATTTTCTGACTGATAGTCATGCCTGGGAAAATGAGTAGAAAATGAGAAGATTAAATCTGAGCAACTTTATAAACTCTTCGATTTTGTTTTGCTTCAGGTTGCCACATTCATCCTCCAGAAGATCTTGTTAGATGACACTGGTTTGGCTTATATATGTCAGACGTATGAGCGTTTCTCCCATGTTGCCATGATCTTGGTGAGTTCTTTCATCTATCCCCTTTACAACTACTTCTCATCACAAAGCTTAATCTCTTTATAACTGGCATTGAACAACTTCAGTCCTCTGACTAGAACTAACAATTTTGGAACCTTTTA... |
Task1_train_5437 | Here is a genetic alteration in BCS1L (BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone) on Chromosome 2. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; not provided | TAGCGACCCAGGTTCCCACCTGCCTCTGGCTCTGACTCACCGCGTGGTCTTGGACAGACACAGTCGCTTCGCTTCTCTGGGCCTCAGCTTTCCTATCTGTAAAATGGAGGTGATGACAGTGTCCACATCGTCGGGCAGGAGCTGGATCATAAGAGCCAGCGAACTGGAAAGGCGGTTTGTAACCTGGAAGGCTTGGGATGGAGCATCGTCATGATTTTGTCCTGAGAGCAGCAGGTACCCGGGCGGGGTCCAGAACCGTGACGCGACTGCAGCGCCGGGGCCCAGCTCGTCTGGGTGCTCCCTTCAGTACCTCCTTCCGA... | TAGCGACCCAGGTTCCCACCTGCCTCTGGCTCTGACTCACCGCGTGGTCTTGGACAGACACAGTCGCTTCGCTTCTCTGGGCCTCAGCTTTCCTATCTGTAAAATGGAGGTGATGACAGTGTCCACATCGTCGGGCAGGAGCTGGATCATAAGAGCCAGCGAACTGGAAAGGCGGTTTGTAACCTGGAAGGCTTGGGATGGAGCATCGTCATGATTTTGTCCTGAGAGCAGCAGGTACCCGGGCGGGGTCCAGAACCGTGACGCGACTGCAGCGCCGGGGCCCAGCTCGTCTGGGTGCTCCCTTCAGTACCTCCTTCCGA... |
Task1_train_5438 | The gene BCS1L (BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone) is located on Chromosome 2, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Bjornstad syndrome with mild mitochondrial complex III deficiency | AATGGAGGTGATGACAGTGTCCACATCGTCGGGCAGGAGCTGGATCATAAGAGCCAGCGAACTGGAAAGGCGGTTTGTAACCTGGAAGGCTTGGGATGGAGCATCGTCATGATTTTGTCCTGAGAGCAGCAGGTACCCGGGCGGGGTCCAGAACCGTGACGCGACTGCAGCGCCGGGGCCCAGCTCGTCTGGGTGCTCCCTTCAGTACCTCCTTCCGAGAGTTCCCAGCGCCCAGGCCCACCCTGATCCCGGGGCTCGAAAAACTTTGCCTCCAGCTCGCTCCACCCGCATTCCCTTCCCAGTTCCGCCCCGCAGCCGCT... | AATGGAGGTGATGACAGTGTCCACATCGTCGGGCAGGAGCTGGATCATAAGAGCCAGCGAACTGGAAAGGCGGTTTGTAACCTGGAAGGCTTGGGATGGAGCATCGTCATGATTTTGTCCTGAGAGCAGCAGGTACCCGGGCGGGGTCCAGAACCGTGACGCGACTGCAGCGCCGGGGCCCAGCTCGTCTGGGTGCTCCCTTCAGTACCTCCTTCCGAGAGTTCCCAGCGCCCAGGCCCACCCTGATCCCGGGGCTCGAAAAACTTTGCCTCCAGCTCGCTCCACCCGCATTCCCTTCCCAGTTCCGCCCCGCAGCCGCT... |
Task1_train_5439 | Given a variant located on Chromosome 2 and affecting BCS1L (BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Pili torti-deafness syndrome | GGGCAGGAGCTGGATCATAAGAGCCAGCGAACTGGAAAGGCGGTTTGTAACCTGGAAGGCTTGGGATGGAGCATCGTCATGATTTTGTCCTGAGAGCAGCAGGTACCCGGGCGGGGTCCAGAACCGTGACGCGACTGCAGCGCCGGGGCCCAGCTCGTCTGGGTGCTCCCTTCAGTACCTCCTTCCGAGAGTTCCCAGCGCCCAGGCCCACCCTGATCCCGGGGCTCGAAAAACTTTGCCTCCAGCTCGCTCCACCCGCATTCCCTTCCCAGTTCCGCCCCGCAGCCGCTCACTCACCTCCAGACCCAGAGCCGGCGGGA... | GGGCAGGAGCTGGATCATAAGAGCCAGCGAACTGGAAAGGCGGTTTGTAACCTGGAAGGCTTGGGATGGAGCATCGTCATGATTTTGTCCTGAGAGCAGCAGGTACCCGGGCGGGGTCCAGAACCGTGACGCGACTGCAGCGCCGGGGCCCAGCTCGTCTGGGTGCTCCCTTCAGTACCTCCTTCCGAGAGTTCCCAGCGCCCAGGCCCACCCTGATCCCGGGGCTCGAAAAACTTTGCCTCCAGCTCGCTCCACCCGCATTCCCTTCCCAGTTCCGCCCCGCAGCCGCTCACTCACCTCCAGACCCAGAGCCGGCGGGA... |
Task1_train_5440 | This sequence variant lies in BCS1L (BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone) on Chromosome 2. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Mitochondrial complex III deficiency nuclear type 1 | GGGCAGGAGCTGGATCATAAGAGCCAGCGAACTGGAAAGGCGGTTTGTAACCTGGAAGGCTTGGGATGGAGCATCGTCATGATTTTGTCCTGAGAGCAGCAGGTACCCGGGCGGGGTCCAGAACCGTGACGCGACTGCAGCGCCGGGGCCCAGCTCGTCTGGGTGCTCCCTTCAGTACCTCCTTCCGAGAGTTCCCAGCGCCCAGGCCCACCCTGATCCCGGGGCTCGAAAAACTTTGCCTCCAGCTCGCTCCACCCGCATTCCCTTCCCAGTTCCGCCCCGCAGCCGCTCACTCACCTCCAGACCCAGAGCCGGCGGGA... | GGGCAGGAGCTGGATCATAAGAGCCAGCGAACTGGAAAGGCGGTTTGTAACCTGGAAGGCTTGGGATGGAGCATCGTCATGATTTTGTCCTGAGAGCAGCAGGTACCCGGGCGGGGTCCAGAACCGTGACGCGACTGCAGCGCCGGGGCCCAGCTCGTCTGGGTGCTCCCTTCAGTACCTCCTTCCGAGAGTTCCCAGCGCCCAGGCCCACCCTGATCCCGGGGCTCGAAAAACTTTGCCTCCAGCTCGCTCCACCCGCATTCCCTTCCCAGTTCCGCCCCGCAGCCGCTCACTCACCTCCAGACCCAGAGCCGGCGGGA... |
Task1_train_5441 | A change on Chromosome 2 affects gene BCS1L (BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; GRACILE syndrome | GGGCAGGAGCTGGATCATAAGAGCCAGCGAACTGGAAAGGCGGTTTGTAACCTGGAAGGCTTGGGATGGAGCATCGTCATGATTTTGTCCTGAGAGCAGCAGGTACCCGGGCGGGGTCCAGAACCGTGACGCGACTGCAGCGCCGGGGCCCAGCTCGTCTGGGTGCTCCCTTCAGTACCTCCTTCCGAGAGTTCCCAGCGCCCAGGCCCACCCTGATCCCGGGGCTCGAAAAACTTTGCCTCCAGCTCGCTCCACCCGCATTCCCTTCCCAGTTCCGCCCCGCAGCCGCTCACTCACCTCCAGACCCAGAGCCGGCGGGA... | GGGCAGGAGCTGGATCATAAGAGCCAGCGAACTGGAAAGGCGGTTTGTAACCTGGAAGGCTTGGGATGGAGCATCGTCATGATTTTGTCCTGAGAGCAGCAGGTACCCGGGCGGGGTCCAGAACCGTGACGCGACTGCAGCGCCGGGGCCCAGCTCGTCTGGGTGCTCCCTTCAGTACCTCCTTCCGAGAGTTCCCAGCGCCCAGGCCCACCCTGATCCCGGGGCTCGAAAAACTTTGCCTCCAGCTCGCTCCACCCGCATTCCCTTCCCAGTTCCGCCCCGCAGCCGCTCACTCACCTCCAGACCCAGAGCCGGCGGGA... |
Task1_train_5442 | Here is a genetic alteration in BCS1L (BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone) on Chromosome 2. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Pili torti-deafness syndrome | GGGCAGGAGCTGGATCATAAGAGCCAGCGAACTGGAAAGGCGGTTTGTAACCTGGAAGGCTTGGGATGGAGCATCGTCATGATTTTGTCCTGAGAGCAGCAGGTACCCGGGCGGGGTCCAGAACCGTGACGCGACTGCAGCGCCGGGGCCCAGCTCGTCTGGGTGCTCCCTTCAGTACCTCCTTCCGAGAGTTCCCAGCGCCCAGGCCCACCCTGATCCCGGGGCTCGAAAAACTTTGCCTCCAGCTCGCTCCACCCGCATTCCCTTCCCAGTTCCGCCCCGCAGCCGCTCACTCACCTCCAGACCCAGAGCCGGCGGGA... | GGGCAGGAGCTGGATCATAAGAGCCAGCGAACTGGAAAGGCGGTTTGTAACCTGGAAGGCTTGGGATGGAGCATCGTCATGATTTTGTCCTGAGAGCAGCAGGTACCCGGGCGGGGTCCAGAACCGTGACGCGACTGCAGCGCCGGGGCCCAGCTCGTCTGGGTGCTCCCTTCAGTACCTCCTTCCGAGAGTTCCCAGCGCCCAGGCCCACCCTGATCCCGGGGCTCGAAAAACTTTGCCTCCAGCTCGCTCCACCCGCATTCCCTTCCCAGTTCCGCCCCGCAGCCGCTCACTCACCTCCAGACCCAGAGCCGGCGGGA... |
Task1_train_5443 | With a mutation on Chromosome 2 in gene BCS1L (BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Mitochondrial complex III deficiency nuclear type 1 | CATAAGAGCCAGCGAACTGGAAAGGCGGTTTGTAACCTGGAAGGCTTGGGATGGAGCATCGTCATGATTTTGTCCTGAGAGCAGCAGGTACCCGGGCGGGGTCCAGAACCGTGACGCGACTGCAGCGCCGGGGCCCAGCTCGTCTGGGTGCTCCCTTCAGTACCTCCTTCCGAGAGTTCCCAGCGCCCAGGCCCACCCTGATCCCGGGGCTCGAAAAACTTTGCCTCCAGCTCGCTCCACCCGCATTCCCTTCCCAGTTCCGCCCCGCAGCCGCTCACTCACCTCCAGACCCAGAGCCGGCGGGAGCCGCATCTCTATGG... | CATAAGAGCCAGCGAACTGGAAAGGCGGTTTGTAACCTGGAAGGCTTGGGATGGAGCATCGTCATGATTTTGTCCTGAGAGCAGCAGGTACCCGGGCGGGGTCCAGAACCGTGACGCGACTGCAGCGCCGGGGCCCAGCTCGTCTGGGTGCTCCCTTCAGTACCTCCTTCCGAGAGTTCCCAGCGCCCAGGCCCACCCTGATCCCGGGGCTCGAAAAACTTTGCCTCCAGCTCGCTCCACCCGCATTCCCTTCCCAGTTCCGCCCCGCAGCCGCTCACTCACCTCCAGACCCAGAGCCGGCGGGAGCCGCATCTCTATGG... |
Task1_train_5444 | This gene mutation involves BCS1L (BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone) on Chromosome 2. Is it associated with any clinical condition, or is it benign? | Pathogenic; Pili torti-deafness syndrome | CAGGTACCCGGGCGGGGTCCAGAACCGTGACGCGACTGCAGCGCCGGGGCCCAGCTCGTCTGGGTGCTCCCTTCAGTACCTCCTTCCGAGAGTTCCCAGCGCCCAGGCCCACCCTGATCCCGGGGCTCGAAAAACTTTGCCTCCAGCTCGCTCCACCCGCATTCCCTTCCCAGTTCCGCCCCGCAGCCGCTCACTCACCTCCAGACCCAGAGCCGGCGGGAGCCGCATCTCTATGGTCGGCCGCGGCTGGAACGGCCCCCGGGGCCCGCTTTGTGCGACCGCCTCCGGCTCAGCCGCCTCTAGGATATTGGGGATGTGGA... | CAGGTACCCGGGCGGGGTCCAGAACCGTGACGCGACTGCAGCGCCGGGGCCCAGCTCGTCTGGGTGCTCCCTTCAGTACCTCCTTCCGAGAGTTCCCAGCGCCCAGGCCCACCCTGATCCCGGGGCTCGAAAAACTTTGCCTCCAGCTCGCTCCACCCGCATTCCCTTCCCAGTTCCGCCCCGCAGCCGCTCACTCACCTCCAGACCCAGAGCCGGCGGGAGCCGCATCTCTATGGTCGGCCGCGGCTGGAACGGCCCCCGGGGCCCGCTTTGTGCGACCGCCTCCGGCTCAGCCGCCTCTAGGATATTGGGGATGTGGA... |
Task1_train_5445 | Consider a variant on Chromosome 2 in gene BCS1L (BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone). Determine its clinical classification and disease relevance. | Pathogenic; GRACILE syndrome | CAGGTACCCGGGCGGGGTCCAGAACCGTGACGCGACTGCAGCGCCGGGGCCCAGCTCGTCTGGGTGCTCCCTTCAGTACCTCCTTCCGAGAGTTCCCAGCGCCCAGGCCCACCCTGATCCCGGGGCTCGAAAAACTTTGCCTCCAGCTCGCTCCACCCGCATTCCCTTCCCAGTTCCGCCCCGCAGCCGCTCACTCACCTCCAGACCCAGAGCCGGCGGGAGCCGCATCTCTATGGTCGGCCGCGGCTGGAACGGCCCCCGGGGCCCGCTTTGTGCGACCGCCTCCGGCTCAGCCGCCTCTAGGATATTGGGGATGTGGA... | CAGGTACCCGGGCGGGGTCCAGAACCGTGACGCGACTGCAGCGCCGGGGCCCAGCTCGTCTGGGTGCTCCCTTCAGTACCTCCTTCCGAGAGTTCCCAGCGCCCAGGCCCACCCTGATCCCGGGGCTCGAAAAACTTTGCCTCCAGCTCGCTCCACCCGCATTCCCTTCCCAGTTCCGCCCCGCAGCCGCTCACTCACCTCCAGACCCAGAGCCGGCGGGAGCCGCATCTCTATGGTCGGCCGCGGCTGGAACGGCCCCCGGGGCCCGCTTTGTGCGACCGCCTCCGGCTCAGCCGCCTCTAGGATATTGGGGATGTGGA... |
Task1_train_5446 | A mutation in BCS1L (BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone), located on Chromosome 2, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Mitochondrial complex III deficiency nuclear type 1 | CAGGTACCCGGGCGGGGTCCAGAACCGTGACGCGACTGCAGCGCCGGGGCCCAGCTCGTCTGGGTGCTCCCTTCAGTACCTCCTTCCGAGAGTTCCCAGCGCCCAGGCCCACCCTGATCCCGGGGCTCGAAAAACTTTGCCTCCAGCTCGCTCCACCCGCATTCCCTTCCCAGTTCCGCCCCGCAGCCGCTCACTCACCTCCAGACCCAGAGCCGGCGGGAGCCGCATCTCTATGGTCGGCCGCGGCTGGAACGGCCCCCGGGGCCCGCTTTGTGCGACCGCCTCCGGCTCAGCCGCCTCTAGGATATTGGGGATGTGGA... | CAGGTACCCGGGCGGGGTCCAGAACCGTGACGCGACTGCAGCGCCGGGGCCCAGCTCGTCTGGGTGCTCCCTTCAGTACCTCCTTCCGAGAGTTCCCAGCGCCCAGGCCCACCCTGATCCCGGGGCTCGAAAAACTTTGCCTCCAGCTCGCTCCACCCGCATTCCCTTCCCAGTTCCGCCCCGCAGCCGCTCACTCACCTCCAGACCCAGAGCCGGCGGGAGCCGCATCTCTATGGTCGGCCGCGGCTGGAACGGCCCCCGGGGCCCGCTTTGTGCGACCGCCTCCGGCTCAGCCGCCTCTAGGATATTGGGGATGTGGA... |
Task1_train_5447 | Here’s a variant in BCS1L (BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone) located on Chromosome 2. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Pili torti-deafness syndrome | CAGGTACCCGGGCGGGGTCCAGAACCGTGACGCGACTGCAGCGCCGGGGCCCAGCTCGTCTGGGTGCTCCCTTCAGTACCTCCTTCCGAGAGTTCCCAGCGCCCAGGCCCACCCTGATCCCGGGGCTCGAAAAACTTTGCCTCCAGCTCGCTCCACCCGCATTCCCTTCCCAGTTCCGCCCCGCAGCCGCTCACTCACCTCCAGACCCAGAGCCGGCGGGAGCCGCATCTCTATGGTCGGCCGCGGCTGGAACGGCCCCCGGGGCCCGCTTTGTGCGACCGCCTCCGGCTCAGCCGCCTCTAGGATATTGGGGATGTGGA... | CAGGTACCCGGGCGGGGTCCAGAACCGTGACGCGACTGCAGCGCCGGGGCCCAGCTCGTCTGGGTGCTCCCTTCAGTACCTCCTTCCGAGAGTTCCCAGCGCCCAGGCCCACCCTGATCCCGGGGCTCGAAAAACTTTGCCTCCAGCTCGCTCCACCCGCATTCCCTTCCCAGTTCCGCCCCGCAGCCGCTCACTCACCTCCAGACCCAGAGCCGGCGGGAGCCGCATCTCTATGGTCGGCCGCGGCTGGAACGGCCCCCGGGGCCCGCTTTGTGCGACCGCCTCCGGCTCAGCCGCCTCTAGGATATTGGGGATGTGGA... |
Task1_train_5448 | A variant was discovered in gene BCS1L (BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone), Chromosome 2. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; GRACILE syndrome | CAGGTACCCGGGCGGGGTCCAGAACCGTGACGCGACTGCAGCGCCGGGGCCCAGCTCGTCTGGGTGCTCCCTTCAGTACCTCCTTCCGAGAGTTCCCAGCGCCCAGGCCCACCCTGATCCCGGGGCTCGAAAAACTTTGCCTCCAGCTCGCTCCACCCGCATTCCCTTCCCAGTTCCGCCCCGCAGCCGCTCACTCACCTCCAGACCCAGAGCCGGCGGGAGCCGCATCTCTATGGTCGGCCGCGGCTGGAACGGCCCCCGGGGCCCGCTTTGTGCGACCGCCTCCGGCTCAGCCGCCTCTAGGATATTGGGGATGTGGA... | CAGGTACCCGGGCGGGGTCCAGAACCGTGACGCGACTGCAGCGCCGGGGCCCAGCTCGTCTGGGTGCTCCCTTCAGTACCTCCTTCCGAGAGTTCCCAGCGCCCAGGCCCACCCTGATCCCGGGGCTCGAAAAACTTTGCCTCCAGCTCGCTCCACCCGCATTCCCTTCCCAGTTCCGCCCCGCAGCCGCTCACTCACCTCCAGACCCAGAGCCGGCGGGAGCCGCATCTCTATGGTCGGCCGCGGCTGGAACGGCCCCCGGGGCCCGCTTTGTGCGACCGCCTCCGGCTCAGCCGCCTCTAGGATATTGGGGATGTGGA... |
Task1_train_5449 | This variant affects gene BCS1L (BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone) located on Chromosome 2. Evaluate its biological effect and specify any disease association. | Pathogenic; Mitochondrial complex III deficiency nuclear type 1 | ATCGAGACGGAGGGCCAGAGAGTCACGGCGGTGAGAGGGCTGAGTGACGGGTTACCCCAAACCATGTGGCTGGAGGCGCGAGCTGGGGTGTGGGCGAGGTTCAGGAGGGGGTTCCTGGGTGTCGCGGAGGGGCCGGGGACGGGAGAGCTTTGTCTGTGGCCTTCCATGCATAGGTGTTTTGGAATTCTGGATCCCAGTTCTGAGGCTCAGCCGAGGTCACTGCTGTCAGCTCACCTCCCTGCATGCCAGGCGCAGGGCAAAGTGGCCGGGGTTCGGGGTTGGAGGAGAGGTGTACTAGAAACAACTTTGCTCTTGTCCCT... | ATCGAGACGGAGGGCCAGAGAGTCACGGCGGTGAGAGGGCTGAGTGACGGGTTACCCCAAACCATGTGGCTGGAGGCGCGAGCTGGGGTGTGGGCGAGGTTCAGGAGGGGGTTCCTGGGTGTCGCGGAGGGGCCGGGGACGGGAGAGCTTTGTCTGTGGCCTTCCATGCATAGGTGTTTTGGAATTCTGGATCCCAGTTCTGAGGCTCAGCCGAGGTCACTGCTGTCAGCTCACCTCCCTGCATGCCAGGCGCAGGGCAAAGTGGCCGGGGTTCGGGGTTGGAGGAGAGGTGTACTAGAAACAACTTTGCTCTTGTCCCT... |
Task1_train_5450 | A variant found in Chromosome 2 affects BCS1L (BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Leigh syndrome | GGGGTGTGGGCGAGGTTCAGGAGGGGGTTCCTGGGTGTCGCGGAGGGGCCGGGGACGGGAGAGCTTTGTCTGTGGCCTTCCATGCATAGGTGTTTTGGAATTCTGGATCCCAGTTCTGAGGCTCAGCCGAGGTCACTGCTGTCAGCTCACCTCCCTGCATGCCAGGCGCAGGGCAAAGTGGCCGGGGTTCGGGGTTGGAGGAGAGGTGTACTAGAAACAACTTTGCTCTTGTCCCTCAGGATCTTATTGTCTACGATGTGACGATCCGTGGAGAAAGTAGCAGATGGGCAGATTTTCATTTGGGGAGAATGAGGGAGAAA... | GGGGTGTGGGCGAGGTTCAGGAGGGGGTTCCTGGGTGTCGCGGAGGGGCCGGGGACGGGAGAGCTTTGTCTGTGGCCTTCCATGCATAGGTGTTTTGGAATTCTGGATCCCAGTTCTGAGGCTCAGCCGAGGTCACTGCTGTCAGCTCACCTCCCTGCATGCCAGGCGCAGGGCAAAGTGGCCGGGGTTCGGGGTTGGAGGAGAGGTGTACTAGAAACAACTTTGCTCTTGTCCCTCAGGATCTTATTGTCTACGATGTGACGATCCGTGGAGAAAGTAGCAGATGGGCAGATTTTCATTTGGGGAGAATGAGGGAGAAA... |
Task1_train_5451 | A variant was discovered on Chromosome 2, affecting BCS1L (BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Mitochondrial complex III deficiency nuclear type 1 | GGGGTGTGGGCGAGGTTCAGGAGGGGGTTCCTGGGTGTCGCGGAGGGGCCGGGGACGGGAGAGCTTTGTCTGTGGCCTTCCATGCATAGGTGTTTTGGAATTCTGGATCCCAGTTCTGAGGCTCAGCCGAGGTCACTGCTGTCAGCTCACCTCCCTGCATGCCAGGCGCAGGGCAAAGTGGCCGGGGTTCGGGGTTGGAGGAGAGGTGTACTAGAAACAACTTTGCTCTTGTCCCTCAGGATCTTATTGTCTACGATGTGACGATCCGTGGAGAAAGTAGCAGATGGGCAGATTTTCATTTGGGGAGAATGAGGGAGAAA... | GGGGTGTGGGCGAGGTTCAGGAGGGGGTTCCTGGGTGTCGCGGAGGGGCCGGGGACGGGAGAGCTTTGTCTGTGGCCTTCCATGCATAGGTGTTTTGGAATTCTGGATCCCAGTTCTGAGGCTCAGCCGAGGTCACTGCTGTCAGCTCACCTCCCTGCATGCCAGGCGCAGGGCAAAGTGGCCGGGGTTCGGGGTTGGAGGAGAGGTGTACTAGAAACAACTTTGCTCTTGTCCCTCAGGATCTTATTGTCTACGATGTGACGATCCGTGGAGAAAGTAGCAGATGGGCAGATTTTCATTTGGGGAGAATGAGGGAGAAA... |
Task1_train_5452 | Given a variant located on Chromosome 2 and affecting BCS1L (BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Pili torti-deafness syndrome | GGGGTGTGGGCGAGGTTCAGGAGGGGGTTCCTGGGTGTCGCGGAGGGGCCGGGGACGGGAGAGCTTTGTCTGTGGCCTTCCATGCATAGGTGTTTTGGAATTCTGGATCCCAGTTCTGAGGCTCAGCCGAGGTCACTGCTGTCAGCTCACCTCCCTGCATGCCAGGCGCAGGGCAAAGTGGCCGGGGTTCGGGGTTGGAGGAGAGGTGTACTAGAAACAACTTTGCTCTTGTCCCTCAGGATCTTATTGTCTACGATGTGACGATCCGTGGAGAAAGTAGCAGATGGGCAGATTTTCATTTGGGGAGAATGAGGGAGAAA... | GGGGTGTGGGCGAGGTTCAGGAGGGGGTTCCTGGGTGTCGCGGAGGGGCCGGGGACGGGAGAGCTTTGTCTGTGGCCTTCCATGCATAGGTGTTTTGGAATTCTGGATCCCAGTTCTGAGGCTCAGCCGAGGTCACTGCTGTCAGCTCACCTCCCTGCATGCCAGGCGCAGGGCAAAGTGGCCGGGGTTCGGGGTTGGAGGAGAGGTGTACTAGAAACAACTTTGCTCTTGTCCCTCAGGATCTTATTGTCTACGATGTGACGATCCGTGGAGAAAGTAGCAGATGGGCAGATTTTCATTTGGGGAGAATGAGGGAGAAA... |
Task1_train_5453 | A variant found in Chromosome 2 affects BCS1L (BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Mitochondrial complex III deficiency nuclear type 1 | GGGGTGTGGGCGAGGTTCAGGAGGGGGTTCCTGGGTGTCGCGGAGGGGCCGGGGACGGGAGAGCTTTGTCTGTGGCCTTCCATGCATAGGTGTTTTGGAATTCTGGATCCCAGTTCTGAGGCTCAGCCGAGGTCACTGCTGTCAGCTCACCTCCCTGCATGCCAGGCGCAGGGCAAAGTGGCCGGGGTTCGGGGTTGGAGGAGAGGTGTACTAGAAACAACTTTGCTCTTGTCCCTCAGGATCTTATTGTCTACGATGTGACGATCCGTGGAGAAAGTAGCAGATGGGCAGATTTTCATTTGGGGAGAATGAGGGAGAAA... | GGGGTGTGGGCGAGGTTCAGGAGGGGGTTCCTGGGTGTCGCGGAGGGGCCGGGGACGGGAGAGCTTTGTCTGTGGCCTTCCATGCATAGGTGTTTTGGAATTCTGGATCCCAGTTCTGAGGCTCAGCCGAGGTCACTGCTGTCAGCTCACCTCCCTGCATGCCAGGCGCAGGGCAAAGTGGCCGGGGTTCGGGGTTGGAGGAGAGGTGTACTAGAAACAACTTTGCTCTTGTCCCTCAGGATCTTATTGTCTACGATGTGACGATCCGTGGAGAAAGTAGCAGATGGGCAGATTTTCATTTGGGGAGAATGAGGGAGAAA... |
Task1_train_5454 | This variant affects gene BCS1L (BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone) located on Chromosome 2. Evaluate its biological effect and specify any disease association. | Pathogenic; GRACILE syndrome | GGGGTGTGGGCGAGGTTCAGGAGGGGGTTCCTGGGTGTCGCGGAGGGGCCGGGGACGGGAGAGCTTTGTCTGTGGCCTTCCATGCATAGGTGTTTTGGAATTCTGGATCCCAGTTCTGAGGCTCAGCCGAGGTCACTGCTGTCAGCTCACCTCCCTGCATGCCAGGCGCAGGGCAAAGTGGCCGGGGTTCGGGGTTGGAGGAGAGGTGTACTAGAAACAACTTTGCTCTTGTCCCTCAGGATCTTATTGTCTACGATGTGACGATCCGTGGAGAAAGTAGCAGATGGGCAGATTTTCATTTGGGGAGAATGAGGGAGAAA... | GGGGTGTGGGCGAGGTTCAGGAGGGGGTTCCTGGGTGTCGCGGAGGGGCCGGGGACGGGAGAGCTTTGTCTGTGGCCTTCCATGCATAGGTGTTTTGGAATTCTGGATCCCAGTTCTGAGGCTCAGCCGAGGTCACTGCTGTCAGCTCACCTCCCTGCATGCCAGGCGCAGGGCAAAGTGGCCGGGGTTCGGGGTTGGAGGAGAGGTGTACTAGAAACAACTTTGCTCTTGTCCCTCAGGATCTTATTGTCTACGATGTGACGATCCGTGGAGAAAGTAGCAGATGGGCAGATTTTCATTTGGGGAGAATGAGGGAGAAA... |
Task1_train_5455 | This variant lies on Chromosome 2 and affects the gene BCS1L (BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Pili torti-deafness syndrome | GGGGTGTGGGCGAGGTTCAGGAGGGGGTTCCTGGGTGTCGCGGAGGGGCCGGGGACGGGAGAGCTTTGTCTGTGGCCTTCCATGCATAGGTGTTTTGGAATTCTGGATCCCAGTTCTGAGGCTCAGCCGAGGTCACTGCTGTCAGCTCACCTCCCTGCATGCCAGGCGCAGGGCAAAGTGGCCGGGGTTCGGGGTTGGAGGAGAGGTGTACTAGAAACAACTTTGCTCTTGTCCCTCAGGATCTTATTGTCTACGATGTGACGATCCGTGGAGAAAGTAGCAGATGGGCAGATTTTCATTTGGGGAGAATGAGGGAGAAA... | GGGGTGTGGGCGAGGTTCAGGAGGGGGTTCCTGGGTGTCGCGGAGGGGCCGGGGACGGGAGAGCTTTGTCTGTGGCCTTCCATGCATAGGTGTTTTGGAATTCTGGATCCCAGTTCTGAGGCTCAGCCGAGGTCACTGCTGTCAGCTCACCTCCCTGCATGCCAGGCGCAGGGCAAAGTGGCCGGGGTTCGGGGTTGGAGGAGAGGTGTACTAGAAACAACTTTGCTCTTGTCCCTCAGGATCTTATTGTCTACGATGTGACGATCCGTGGAGAAAGTAGCAGATGGGCAGATTTTCATTTGGGGAGAATGAGGGAGAAA... |
Task1_train_5456 | Gene BCS1L (BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone), found on Chromosome 2, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Pili torti-deafness syndrome | GTATTTGCATATTTGCTAAACAGGTAGTGTTAGGAGCTAATCCATGAAAGGTAGGTGGGCGCCGTATTGTAGAGAGCCTTGAGTACCAGGCTGAGTTTATACCCAATTCAGGGGTCTGCTGGGAGCCAGCCATTGAAGGTGCTGGAGCAGAGAGAGATATGGTATTGGAGCTGATCCCTATGATGAAAGATCTGGACCCTTGTGTAGATGTTCCGTGAAGCAGGAGGTGAAGACCTATTAAAATGCCATTTCAAGAACTACGATTTTAAAGACAGTTTAGGTGGGAGGTAATAAAGGTCTAAACAAGACGTTAAATATTG... | GTATTTGCATATTTGCTAAACAGGTAGTGTTAGGAGCTAATCCATGAAAGGTAGGTGGGCGCCGTATTGTAGAGAGCCTTGAGTACCAGGCTGAGTTTATACCCAATTCAGGGGTCTGCTGGGAGCCAGCCATTGAAGGTGCTGGAGCAGAGAGAGATATGGTATTGGAGCTGATCCCTATGATGAAAGATCTGGACCCTTGTGTAGATGTTCCGTGAAGCAGGAGGTGAAGACCTATTAAAATGCCATTTCAAGAACTACGATTTTAAAGACAGTTTAGGTGGGAGGTAATAAAGGTCTAAACAAGACGTTAAATATTG... |
Task1_train_5457 | An alteration has been detected in BCS1L (BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone) on Chromosome 2. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Mitochondrial complex III deficiency nuclear type 1 | GTATTTGCATATTTGCTAAACAGGTAGTGTTAGGAGCTAATCCATGAAAGGTAGGTGGGCGCCGTATTGTAGAGAGCCTTGAGTACCAGGCTGAGTTTATACCCAATTCAGGGGTCTGCTGGGAGCCAGCCATTGAAGGTGCTGGAGCAGAGAGAGATATGGTATTGGAGCTGATCCCTATGATGAAAGATCTGGACCCTTGTGTAGATGTTCCGTGAAGCAGGAGGTGAAGACCTATTAAAATGCCATTTCAAGAACTACGATTTTAAAGACAGTTTAGGTGGGAGGTAATAAAGGTCTAAACAAGACGTTAAATATTG... | GTATTTGCATATTTGCTAAACAGGTAGTGTTAGGAGCTAATCCATGAAAGGTAGGTGGGCGCCGTATTGTAGAGAGCCTTGAGTACCAGGCTGAGTTTATACCCAATTCAGGGGTCTGCTGGGAGCCAGCCATTGAAGGTGCTGGAGCAGAGAGAGATATGGTATTGGAGCTGATCCCTATGATGAAAGATCTGGACCCTTGTGTAGATGTTCCGTGAAGCAGGAGGTGAAGACCTATTAAAATGCCATTTCAAGAACTACGATTTTAAAGACAGTTTAGGTGGGAGGTAATAAAGGTCTAAACAAGACGTTAAATATTG... |
Task1_train_5458 | Gene BCS1L (BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone) on Chromosome 2 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; GRACILE syndrome | GTATTTGCATATTTGCTAAACAGGTAGTGTTAGGAGCTAATCCATGAAAGGTAGGTGGGCGCCGTATTGTAGAGAGCCTTGAGTACCAGGCTGAGTTTATACCCAATTCAGGGGTCTGCTGGGAGCCAGCCATTGAAGGTGCTGGAGCAGAGAGAGATATGGTATTGGAGCTGATCCCTATGATGAAAGATCTGGACCCTTGTGTAGATGTTCCGTGAAGCAGGAGGTGAAGACCTATTAAAATGCCATTTCAAGAACTACGATTTTAAAGACAGTTTAGGTGGGAGGTAATAAAGGTCTAAACAAGACGTTAAATATTG... | GTATTTGCATATTTGCTAAACAGGTAGTGTTAGGAGCTAATCCATGAAAGGTAGGTGGGCGCCGTATTGTAGAGAGCCTTGAGTACCAGGCTGAGTTTATACCCAATTCAGGGGTCTGCTGGGAGCCAGCCATTGAAGGTGCTGGAGCAGAGAGAGATATGGTATTGGAGCTGATCCCTATGATGAAAGATCTGGACCCTTGTGTAGATGTTCCGTGAAGCAGGAGGTGAAGACCTATTAAAATGCCATTTCAAGAACTACGATTTTAAAGACAGTTTAGGTGGGAGGTAATAAAGGTCTAAACAAGACGTTAAATATTG... |
Task1_train_5459 | This mutation occurs in BCS1L (BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone) on Chromosome 2. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Mitochondrial complex III deficiency nuclear type 1 | TATTTGCTAAACAGGTAGTGTTAGGAGCTAATCCATGAAAGGTAGGTGGGCGCCGTATTGTAGAGAGCCTTGAGTACCAGGCTGAGTTTATACCCAATTCAGGGGTCTGCTGGGAGCCAGCCATTGAAGGTGCTGGAGCAGAGAGAGATATGGTATTGGAGCTGATCCCTATGATGAAAGATCTGGACCCTTGTGTAGATGTTCCGTGAAGCAGGAGGTGAAGACCTATTAAAATGCCATTTCAAGAACTACGATTTTAAAGACAGTTTAGGTGGGAGGTAATAAAGGTCTAAACAAGACGTTAAATATTGGGGACGTAA... | TATTTGCTAAACAGGTAGTGTTAGGAGCTAATCCATGAAAGGTAGGTGGGCGCCGTATTGTAGAGAGCCTTGAGTACCAGGCTGAGTTTATACCCAATTCAGGGGTCTGCTGGGAGCCAGCCATTGAAGGTGCTGGAGCAGAGAGAGATATGGTATTGGAGCTGATCCCTATGATGAAAGATCTGGACCCTTGTGTAGATGTTCCGTGAAGCAGGAGGTGAAGACCTATTAAAATGCCATTTCAAGAACTACGATTTTAAAGACAGTTTAGGTGGGAGGTAATAAAGGTCTAAACAAGACGTTAAATATTGGGGACGTAA... |
Task1_train_5460 | This gene mutation involves BCS1L (BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone) on Chromosome 2. Is it associated with any clinical condition, or is it benign? | Pathogenic; Mitochondrial complex III deficiency nuclear type 1 | CTGACAAGTCAACGGACGCTTCTCCCTTGCTGACTGCAGCCAATGGACCCCTTTTTATCATAGCTGGTCCCAGGGACCACAAAAATCCTGTCCATCCATTACCCTGATGTGAAGCCTGTTTATATAGCTCTTTTTGGTTTAAGGCATCTCCAGACATGGTCCTCTGGTAGGAAACAGGTATGAGTAGACTAATGAAGGACAAAATGGGATGAGGGACCTGGAGCCTCCACCCTTGCATTCCAATACCACCCTTACCCCACAAAAGGAGGGTATTGACCCACACAGTAATGCTGACCTGTGGCCAGGGCTGGGGAGGTCCA... | CTGACAAGTCAACGGACGCTTCTCCCTTGCTGACTGCAGCCAATGGACCCCTTTTTATCATAGCTGGTCCCAGGGACCACAAAAATCCTGTCCATCCATTACCCTGATGTGAAGCCTGTTTATATAGCTCTTTTTGGTTTAAGGCATCTCCAGACATGGTCCTCTGGTAGGAAACAGGTATGAGTAGACTAATGAAGGACAAAATGGGATGAGGGACCTGGAGCCTCCACCCTTGCATTCCAATACCACCCTTACCCCACAAAAGGAGGGTATTGACCCACACAGTAATGCTGACCTGTGGCCAGGGCTGGGGAGGTCCA... |
Task1_train_5461 | Gene BCS1L (BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone) on Chromosome 2 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Pili torti-deafness syndrome | GACCCACACAGTAATGCTGACCTGTGGCCAGGGCTGGGGAGGTCCAATTTCTAATCTGTGCTTTGTCCCATCTCCACTGTTCCCCACCCCTAGGTTTTCGTAACACCCCAGGGCCTGTAAGGTTTGGTGTTTCCCTTTCAAGATGCCACTTTCAGACTTTATTCTGGCTCTGAAGGACAATCCCTACTTTGGGGCTGGATTTGGGCTGGTGGGTGTGGGCACAGCCCTGGCCCTGGCCCGGAAGGGTGTCCAACTGGGCCTGGTGGCATTCCGGCGCCATTACATGATCACACTGGAAGTCCCTGCTCGAGACAGGAGCT... | GACCCACACAGTAATGCTGACCTGTGGCCAGGGCTGGGGAGGTCCAATTTCTAATCTGTGCTTTGTCCCATCTCCACTGTTCCCCACCCCTAGGTTTTCGTAACACCCCAGGGCCTGTAAGGTTTGGTGTTTCCCTTTCAAGATGCCACTTTCAGACTTTATTCTGGCTCTGAAGGACAATCCCTACTTTGGGGCTGGATTTGGGCTGGTGGGTGTGGGCACAGCCCTGGCCCTGGCCCGGAAGGGTGTCCAACTGGGCCTGGTGGCATTCCGGCGCCATTACATGATCACACTGGAAGTCCCTGCTCGAGACAGGAGCT... |
Task1_train_5462 | An alteration has been detected in CYP27A1 (cytochrome P450 family 27 subfamily A member 1) on Chromosome 2. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Cholestanol storage disease | TTCAAGCAATTCTCCCACCTCAGCCTCCGAGTAGCTGGAATCACAGGCGCACACTGCCATGCCCAGCGAATTTTTTTTTTTTTTTGTAGAGGCAGGGTTTTGCCATGTTGCCAAGGCTGATCTCAAACTCCTTAGCTCAAGTGATCCTCCAGCCTTGGCCTCCCAAAGTGCTGGGATTATAGGGGTGAGTCACCATGCCCGGTCCAGTAATCACTTTCACTAGTTTCTTATGTATCCATCCAGTATTTTTCTATGAAAGCAAATACAAATACTATATATTCTTATTTTAGACCTCCTTTCTTAGGCAAAAGATATACTTT... | TTCAAGCAATTCTCCCACCTCAGCCTCCGAGTAGCTGGAATCACAGGCGCACACTGCCATGCCCAGCGAATTTTTTTTTTTTTTTGTAGAGGCAGGGTTTTGCCATGTTGCCAAGGCTGATCTCAAACTCCTTAGCTCAAGTGATCCTCCAGCCTTGGCCTCCCAAAGTGCTGGGATTATAGGGGTGAGTCACCATGCCCGGTCCAGTAATCACTTTCACTAGTTTCTTATGTATCCATCCAGTATTTTTCTATGAAAGCAAATACAAATACTATATATTCTTATTTTAGACCTCCTTTCTTAGGCAAAAGATATACTTT... |
Task1_train_5463 | With a mutation on Chromosome 2 in gene CYP27A1 (cytochrome P450 family 27 subfamily A member 1), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Cholestanol storage disease | TCAAGCAATTCTCCCACCTCAGCCTCCGAGTAGCTGGAATCACAGGCGCACACTGCCATGCCCAGCGAATTTTTTTTTTTTTTTGTAGAGGCAGGGTTTTGCCATGTTGCCAAGGCTGATCTCAAACTCCTTAGCTCAAGTGATCCTCCAGCCTTGGCCTCCCAAAGTGCTGGGATTATAGGGGTGAGTCACCATGCCCGGTCCAGTAATCACTTTCACTAGTTTCTTATGTATCCATCCAGTATTTTTCTATGAAAGCAAATACAAATACTATATATTCTTATTTTAGACCTCCTTTCTTAGGCAAAAGATATACTTTT... | TCAAGCAATTCTCCCACCTCAGCCTCCGAGTAGCTGGAATCACAGGCGCACACTGCCATGCCCAGCGAATTTTTTTTTTTTTTTGTAGAGGCAGGGTTTTGCCATGTTGCCAAGGCTGATCTCAAACTCCTTAGCTCAAGTGATCCTCCAGCCTTGGCCTCCCAAAGTGCTGGGATTATAGGGGTGAGTCACCATGCCCGGTCCAGTAATCACTTTCACTAGTTTCTTATGTATCCATCCAGTATTTTTCTATGAAAGCAAATACAAATACTATATATTCTTATTTTAGACCTCCTTTCTTAGGCAAAAGATATACTTTT... |
Task1_train_5464 | Here is a genetic alteration in CYP27A1 (cytochrome P450 family 27 subfamily A member 1) on Chromosome 2. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Cholestanol storage disease | CCACTCTGCTATAGCGAGATTCTGGTTTGGGGATTCTAAGATTCTGTCACTTGAGATTTTGGTGATTCTATAATTCTAAATTCTAGGAGTATGGGATTTCCCTTGACTCTGGATGGAGGGGGTGGTGGACTTCAGGGTGAGAAGATCTCCCTTAATTGAACCCCCATAGAGGCTTATCTTTGTGCTGTTCCTCTGCGTCCCTGCAGGGAAGGACACCACTGGTACCAGCTGCGCCAGGCTCTGAACCAGCGGTTGCTGAAGCCAGCGGAAGCAGCGCTCTATACGGATGCTTTCAATGAGGTGATTGATGACTTTATGAC... | CCACTCTGCTATAGCGAGATTCTGGTTTGGGGATTCTAAGATTCTGTCACTTGAGATTTTGGTGATTCTATAATTCTAAATTCTAGGAGTATGGGATTTCCCTTGACTCTGGATGGAGGGGGTGGTGGACTTCAGGGTGAGAAGATCTCCCTTAATTGAACCCCCATAGAGGCTTATCTTTGTGCTGTTCCTCTGCGTCCCTGCAGGGAAGGACACCACTGGTACCAGCTGCGCCAGGCTCTGAACCAGCGGTTGCTGAAGCCAGCGGAAGCAGCGCTCTATACGGATGCTTTCAATGAGGTGATTGATGACTTTATGAC... |
Task1_train_5465 | The gene CYP27A1 (cytochrome P450 family 27 subfamily A member 1) on Chromosome 2 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Cholestanol storage disease | CTGCGGGCAGAGAGTGCTTCGGGGAACCAGGTGTCGGACATGGCTCAACTCTTCTACTACTTTGCCTTGGAAGGTACCCTTGCTGGGAGAGGGGCTGGGGAAGGGAATGGGTCAGGGAGAGGTTGTGCTCCCTCTCCTCAAGGGCTCCTGGATTCCATATGTCCTGGTTCTGCCTCCTGTGATGGCCTCTGTGCACTACTCAGCTATTTGCTACATCCTGTTCGAGAAACGCATTGGCTGCCTGCAGCGATCCATCCCCGAGGACACCGTGACCTTCGTCAGATCCATCGGGTTAATGTTCCAGAACTCACTCTATGCCA... | CTGCGGGCAGAGAGTGCTTCGGGGAACCAGGTGTCGGACATGGCTCAACTCTTCTACTACTTTGCCTTGGAAGGTACCCTTGCTGGGAGAGGGGCTGGGGAAGGGAATGGGTCAGGGAGAGGTTGTGCTCCCTCTCCTCAAGGGCTCCTGGATTCCATATGTCCTGGTTCTGCCTCCTGTGATGGCCTCTGTGCACTACTCAGCTATTTGCTACATCCTGTTCGAGAAACGCATTGGCTGCCTGCAGCGATCCATCCCCGAGGACACCGTGACCTTCGTCAGATCCATCGGGTTAATGTTCCAGAACTCACTCTATGCCA... |
Task1_train_5466 | A mutation found in CYP27A1 (cytochrome P450 family 27 subfamily A member 1) on Chromosome 2 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Cholestanol storage disease | GAGTGCTTCGGGGAACCAGGTGTCGGACATGGCTCAACTCTTCTACTACTTTGCCTTGGAAGGTACCCTTGCTGGGAGAGGGGCTGGGGAAGGGAATGGGTCAGGGAGAGGTTGTGCTCCCTCTCCTCAAGGGCTCCTGGATTCCATATGTCCTGGTTCTGCCTCCTGTGATGGCCTCTGTGCACTACTCAGCTATTTGCTACATCCTGTTCGAGAAACGCATTGGCTGCCTGCAGCGATCCATCCCCGAGGACACCGTGACCTTCGTCAGATCCATCGGGTTAATGTTCCAGAACTCACTCTATGCCACCTTCCTCCCC... | GAGTGCTTCGGGGAACCAGGTGTCGGACATGGCTCAACTCTTCTACTACTTTGCCTTGGAAGGTACCCTTGCTGGGAGAGGGGCTGGGGAAGGGAATGGGTCAGGGAGAGGTTGTGCTCCCTCTCCTCAAGGGCTCCTGGATTCCATATGTCCTGGTTCTGCCTCCTGTGATGGCCTCTGTGCACTACTCAGCTATTTGCTACATCCTGTTCGAGAAACGCATTGGCTGCCTGCAGCGATCCATCCCCGAGGACACCGTGACCTTCGTCAGATCCATCGGGTTAATGTTCCAGAACTCACTCTATGCCACCTTCCTCCCC... |
Task1_train_5467 | Given a variant located on Chromosome 2 and affecting CYP27A1 (cytochrome P450 family 27 subfamily A member 1), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Cardiovascular phenotype | GAGTGCTTCGGGGAACCAGGTGTCGGACATGGCTCAACTCTTCTACTACTTTGCCTTGGAAGGTACCCTTGCTGGGAGAGGGGCTGGGGAAGGGAATGGGTCAGGGAGAGGTTGTGCTCCCTCTCCTCAAGGGCTCCTGGATTCCATATGTCCTGGTTCTGCCTCCTGTGATGGCCTCTGTGCACTACTCAGCTATTTGCTACATCCTGTTCGAGAAACGCATTGGCTGCCTGCAGCGATCCATCCCCGAGGACACCGTGACCTTCGTCAGATCCATCGGGTTAATGTTCCAGAACTCACTCTATGCCACCTTCCTCCCC... | GAGTGCTTCGGGGAACCAGGTGTCGGACATGGCTCAACTCTTCTACTACTTTGCCTTGGAAGGTACCCTTGCTGGGAGAGGGGCTGGGGAAGGGAATGGGTCAGGGAGAGGTTGTGCTCCCTCTCCTCAAGGGCTCCTGGATTCCATATGTCCTGGTTCTGCCTCCTGTGATGGCCTCTGTGCACTACTCAGCTATTTGCTACATCCTGTTCGAGAAACGCATTGGCTGCCTGCAGCGATCCATCCCCGAGGACACCGTGACCTTCGTCAGATCCATCGGGTTAATGTTCCAGAACTCACTCTATGCCACCTTCCTCCCC... |
Task1_train_5468 | A variant found in Chromosome 2 affects CYP27A1 (cytochrome P450 family 27 subfamily A member 1). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; not specified | GACATGGCTCAACTCTTCTACTACTTTGCCTTGGAAGGTACCCTTGCTGGGAGAGGGGCTGGGGAAGGGAATGGGTCAGGGAGAGGTTGTGCTCCCTCTCCTCAAGGGCTCCTGGATTCCATATGTCCTGGTTCTGCCTCCTGTGATGGCCTCTGTGCACTACTCAGCTATTTGCTACATCCTGTTCGAGAAACGCATTGGCTGCCTGCAGCGATCCATCCCCGAGGACACCGTGACCTTCGTCAGATCCATCGGGTTAATGTTCCAGAACTCACTCTATGCCACCTTCCTCCCCAAGTGGACTCGCCCCGTGCTGCCTT... | GACATGGCTCAACTCTTCTACTACTTTGCCTTGGAAGGTACCCTTGCTGGGAGAGGGGCTGGGGAAGGGAATGGGTCAGGGAGAGGTTGTGCTCCCTCTCCTCAAGGGCTCCTGGATTCCATATGTCCTGGTTCTGCCTCCTGTGATGGCCTCTGTGCACTACTCAGCTATTTGCTACATCCTGTTCGAGAAACGCATTGGCTGCCTGCAGCGATCCATCCCCGAGGACACCGTGACCTTCGTCAGATCCATCGGGTTAATGTTCCAGAACTCACTCTATGCCACCTTCCTCCCCAAGTGGACTCGCCCCGTGCTGCCTT... |
Task1_train_5469 | Here is a variant affecting CYP27A1 (cytochrome P450 family 27 subfamily A member 1) on Chromosome 2. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Cholestanol storage disease | ATCGGGTTAATGTTCCAGAACTCACTCTATGCCACCTTCCTCCCCAAGTGGACTCGCCCCGTGCTGCCTTTCTGGAAGCGATACCTGGATGGTTGGAATGCCATCTTTTCCTTTGGTGAGGACTCCCAGATGGGGCCCAGGGAAGAGAGATGGGGGTGACTCCAGGTCTGTGCATCAGCGGTCTCTCCCAGGCCTTTTCCCTCATGCTACCAGTTGTCGGAGTGGCTCTTGGTCCTTGGAGATCATGACTTTTGGCTTTGTCCTTTCCTCTTCTCTGTTGCTTTCACAGGGAAGAAGCTGATTGATGAGAAGCTCGAAGA... | ATCGGGTTAATGTTCCAGAACTCACTCTATGCCACCTTCCTCCCCAAGTGGACTCGCCCCGTGCTGCCTTTCTGGAAGCGATACCTGGATGGTTGGAATGCCATCTTTTCCTTTGGTGAGGACTCCCAGATGGGGCCCAGGGAAGAGAGATGGGGGTGACTCCAGGTCTGTGCATCAGCGGTCTCTCCCAGGCCTTTTCCCTCATGCTACCAGTTGTCGGAGTGGCTCTTGGTCCTTGGAGATCATGACTTTTGGCTTTGTCCTTTCCTCTTCTCTGTTGCTTTCACAGGGAAGAAGCTGATTGATGAGAAGCTCGAAGA... |
Task1_train_5470 | A genetic alteration is present in CYP27A1 (cytochrome P450 family 27 subfamily A member 1) on Chromosome 2. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Cholestanol storage disease | ACTCACTCTATGCCACCTTCCTCCCCAAGTGGACTCGCCCCGTGCTGCCTTTCTGGAAGCGATACCTGGATGGTTGGAATGCCATCTTTTCCTTTGGTGAGGACTCCCAGATGGGGCCCAGGGAAGAGAGATGGGGGTGACTCCAGGTCTGTGCATCAGCGGTCTCTCCCAGGCCTTTTCCCTCATGCTACCAGTTGTCGGAGTGGCTCTTGGTCCTTGGAGATCATGACTTTTGGCTTTGTCCTTTCCTCTTCTCTGTTGCTTTCACAGGGAAGAAGCTGATTGATGAGAAGCTCGAAGATATGGAGGCCCAACTGCAG... | ACTCACTCTATGCCACCTTCCTCCCCAAGTGGACTCGCCCCGTGCTGCCTTTCTGGAAGCGATACCTGGATGGTTGGAATGCCATCTTTTCCTTTGGTGAGGACTCCCAGATGGGGCCCAGGGAAGAGAGATGGGGGTGACTCCAGGTCTGTGCATCAGCGGTCTCTCCCAGGCCTTTTCCCTCATGCTACCAGTTGTCGGAGTGGCTCTTGGTCCTTGGAGATCATGACTTTTGGCTTTGTCCTTTCCTCTTCTCTGTTGCTTTCACAGGGAAGAAGCTGATTGATGAGAAGCTCGAAGATATGGAGGCCCAACTGCAG... |
Task1_train_5471 | This genomic variant is located on Chromosome 2, within the CYP27A1 (cytochrome P450 family 27 subfamily A member 1) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; CYP27A1-related disorder | ACTCACTCTATGCCACCTTCCTCCCCAAGTGGACTCGCCCCGTGCTGCCTTTCTGGAAGCGATACCTGGATGGTTGGAATGCCATCTTTTCCTTTGGTGAGGACTCCCAGATGGGGCCCAGGGAAGAGAGATGGGGGTGACTCCAGGTCTGTGCATCAGCGGTCTCTCCCAGGCCTTTTCCCTCATGCTACCAGTTGTCGGAGTGGCTCTTGGTCCTTGGAGATCATGACTTTTGGCTTTGTCCTTTCCTCTTCTCTGTTGCTTTCACAGGGAAGAAGCTGATTGATGAGAAGCTCGAAGATATGGAGGCCCAACTGCAG... | ACTCACTCTATGCCACCTTCCTCCCCAAGTGGACTCGCCCCGTGCTGCCTTTCTGGAAGCGATACCTGGATGGTTGGAATGCCATCTTTTCCTTTGGTGAGGACTCCCAGATGGGGCCCAGGGAAGAGAGATGGGGGTGACTCCAGGTCTGTGCATCAGCGGTCTCTCCCAGGCCTTTTCCCTCATGCTACCAGTTGTCGGAGTGGCTCTTGGTCCTTGGAGATCATGACTTTTGGCTTTGTCCTTTCCTCTTCTCTGTTGCTTTCACAGGGAAGAAGCTGATTGATGAGAAGCTCGAAGATATGGAGGCCCAACTGCAG... |
Task1_train_5472 | The gene CYP27A1 (cytochrome P450 family 27 subfamily A member 1) is located on Chromosome 2, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Cholestanol storage disease | ACCTTCCTCCCCAAGTGGACTCGCCCCGTGCTGCCTTTCTGGAAGCGATACCTGGATGGTTGGAATGCCATCTTTTCCTTTGGTGAGGACTCCCAGATGGGGCCCAGGGAAGAGAGATGGGGGTGACTCCAGGTCTGTGCATCAGCGGTCTCTCCCAGGCCTTTTCCCTCATGCTACCAGTTGTCGGAGTGGCTCTTGGTCCTTGGAGATCATGACTTTTGGCTTTGTCCTTTCCTCTTCTCTGTTGCTTTCACAGGGAAGAAGCTGATTGATGAGAAGCTCGAAGATATGGAGGCCCAACTGCAGGCAGCAGGGCCAGA... | ACCTTCCTCCCCAAGTGGACTCGCCCCGTGCTGCCTTTCTGGAAGCGATACCTGGATGGTTGGAATGCCATCTTTTCCTTTGGTGAGGACTCCCAGATGGGGCCCAGGGAAGAGAGATGGGGGTGACTCCAGGTCTGTGCATCAGCGGTCTCTCCCAGGCCTTTTCCCTCATGCTACCAGTTGTCGGAGTGGCTCTTGGTCCTTGGAGATCATGACTTTTGGCTTTGTCCTTTCCTCTTCTCTGTTGCTTTCACAGGGAAGAAGCTGATTGATGAGAAGCTCGAAGATATGGAGGCCCAACTGCAGGCAGCAGGGCCAGA... |
Task1_train_5473 | The gene WNT10A (Wnt family member 10A) on Chromosome 2 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Tooth agenesis, selective, 4 | TTTCTGCAGCATGGTAGGGAGAGTGGGGAGGGCAGGGGGCAGTTGGGGTCAAATAAGGCTCTAGCTGACGCAGTCTGCTTGCTGCCCCTGGCTGTTTTCCTGCAGTCCAGCCAGACTGCTCCCCCCCCACTGCCCCACCCCCACCCCCAGCAGCCTCAAGCCCTTAATTCCTGACAGCTGCGGTGGCTGCCGGCAGAGATGAGGGGGAAAGGAGGGGGGAGTATGCCGTCAGCCTGCTGTTGCTCAGGCCGCCCCCACCACCTGACAGTCTGGGGACAAGGAGGGCCCCACCCCCTCCTTCAGTTCCCCAGGGATGGGCA... | TTTCTGCAGCATGGTAGGGAGAGTGGGGAGGGCAGGGGGCAGTTGGGGTCAAATAAGGCTCTAGCTGACGCAGTCTGCTTGCTGCCCCTGGCTGTTTTCCTGCAGTCCAGCCAGACTGCTCCCCCCCCACTGCCCCACCCCCACCCCCAGCAGCCTCAAGCCCTTAATTCCTGACAGCTGCGGTGGCTGCCGGCAGAGATGAGGGGGAAAGGAGGGGGGAGTATGCCGTCAGCCTGCTGTTGCTCAGGCCGCCCCCACCACCTGACAGTCTGGGGACAAGGAGGGCCCCACCCCCTCCTTCAGTTCCCCAGGGATGGGCA... |
Task1_train_5474 | Gene WNT10A (Wnt family member 10A) on Chromosome 2 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Odonto-onycho-dermal dysplasia | TTTCTGCAGCATGGTAGGGAGAGTGGGGAGGGCAGGGGGCAGTTGGGGTCAAATAAGGCTCTAGCTGACGCAGTCTGCTTGCTGCCCCTGGCTGTTTTCCTGCAGTCCAGCCAGACTGCTCCCCCCCCACTGCCCCACCCCCACCCCCAGCAGCCTCAAGCCCTTAATTCCTGACAGCTGCGGTGGCTGCCGGCAGAGATGAGGGGGAAAGGAGGGGGGAGTATGCCGTCAGCCTGCTGTTGCTCAGGCCGCCCCCACCACCTGACAGTCTGGGGACAAGGAGGGCCCCACCCCCTCCTTCAGTTCCCCAGGGATGGGCA... | TTTCTGCAGCATGGTAGGGAGAGTGGGGAGGGCAGGGGGCAGTTGGGGTCAAATAAGGCTCTAGCTGACGCAGTCTGCTTGCTGCCCCTGGCTGTTTTCCTGCAGTCCAGCCAGACTGCTCCCCCCCCACTGCCCCACCCCCACCCCCAGCAGCCTCAAGCCCTTAATTCCTGACAGCTGCGGTGGCTGCCGGCAGAGATGAGGGGGAAAGGAGGGGGGAGTATGCCGTCAGCCTGCTGTTGCTCAGGCCGCCCCCACCACCTGACAGTCTGGGGACAAGGAGGGCCCCACCCCCTCCTTCAGTTCCCCAGGGATGGGCA... |
Task1_train_5475 | A variant affecting Chromosome 2, within the gene WNT10A (Wnt family member 10A), has been observed. Determine if it's benign or associated with disease. | Pathogenic; SchC6pf-Schulz-Passarge syndrome | TTTCTGCAGCATGGTAGGGAGAGTGGGGAGGGCAGGGGGCAGTTGGGGTCAAATAAGGCTCTAGCTGACGCAGTCTGCTTGCTGCCCCTGGCTGTTTTCCTGCAGTCCAGCCAGACTGCTCCCCCCCCACTGCCCCACCCCCACCCCCAGCAGCCTCAAGCCCTTAATTCCTGACAGCTGCGGTGGCTGCCGGCAGAGATGAGGGGGAAAGGAGGGGGGAGTATGCCGTCAGCCTGCTGTTGCTCAGGCCGCCCCCACCACCTGACAGTCTGGGGACAAGGAGGGCCCCACCCCCTCCTTCAGTTCCCCAGGGATGGGCA... | TTTCTGCAGCATGGTAGGGAGAGTGGGGAGGGCAGGGGGCAGTTGGGGTCAAATAAGGCTCTAGCTGACGCAGTCTGCTTGCTGCCCCTGGCTGTTTTCCTGCAGTCCAGCCAGACTGCTCCCCCCCCACTGCCCCACCCCCACCCCCAGCAGCCTCAAGCCCTTAATTCCTGACAGCTGCGGTGGCTGCCGGCAGAGATGAGGGGGAAAGGAGGGGGGAGTATGCCGTCAGCCTGCTGTTGCTCAGGCCGCCCCCACCACCTGACAGTCTGGGGACAAGGAGGGCCCCACCCCCTCCTTCAGTTCCCCAGGGATGGGCA... |
Task1_train_5476 | A mutation in WNT10A (Wnt family member 10A), located on Chromosome 2, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Tooth agenesis, selective, 4 | TTTCTGCAGCATGGTAGGGAGAGTGGGGAGGGCAGGGGGCAGTTGGGGTCAAATAAGGCTCTAGCTGACGCAGTCTGCTTGCTGCCCCTGGCTGTTTTCCTGCAGTCCAGCCAGACTGCTCCCCCCCCACTGCCCCACCCCCACCCCCAGCAGCCTCAAGCCCTTAATTCCTGACAGCTGCGGTGGCTGCCGGCAGAGATGAGGGGGAAAGGAGGGGGGAGTATGCCGTCAGCCTGCTGTTGCTCAGGCCGCCCCCACCACCTGACAGTCTGGGGACAAGGAGGGCCCCACCCCCTCCTTCAGTTCCCCAGGGATGGGCA... | TTTCTGCAGCATGGTAGGGAGAGTGGGGAGGGCAGGGGGCAGTTGGGGTCAAATAAGGCTCTAGCTGACGCAGTCTGCTTGCTGCCCCTGGCTGTTTTCCTGCAGTCCAGCCAGACTGCTCCCCCCCCACTGCCCCACCCCCACCCCCAGCAGCCTCAAGCCCTTAATTCCTGACAGCTGCGGTGGCTGCCGGCAGAGATGAGGGGGAAAGGAGGGGGGAGTATGCCGTCAGCCTGCTGTTGCTCAGGCCGCCCCCACCACCTGACAGTCTGGGGACAAGGAGGGCCCCACCCCCTCCTTCAGTTCCCCAGGGATGGGCA... |
Task1_train_5477 | Assess the clinical impact of this variant on gene WNT10A (Wnt family member 10A), found on Chromosome 2. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Odonto-onycho-dermal dysplasia | TTTCTGCAGCATGGTAGGGAGAGTGGGGAGGGCAGGGGGCAGTTGGGGTCAAATAAGGCTCTAGCTGACGCAGTCTGCTTGCTGCCCCTGGCTGTTTTCCTGCAGTCCAGCCAGACTGCTCCCCCCCCACTGCCCCACCCCCACCCCCAGCAGCCTCAAGCCCTTAATTCCTGACAGCTGCGGTGGCTGCCGGCAGAGATGAGGGGGAAAGGAGGGGGGAGTATGCCGTCAGCCTGCTGTTGCTCAGGCCGCCCCCACCACCTGACAGTCTGGGGACAAGGAGGGCCCCACCCCCTCCTTCAGTTCCCCAGGGATGGGCA... | TTTCTGCAGCATGGTAGGGAGAGTGGGGAGGGCAGGGGGCAGTTGGGGTCAAATAAGGCTCTAGCTGACGCAGTCTGCTTGCTGCCCCTGGCTGTTTTCCTGCAGTCCAGCCAGACTGCTCCCCCCCCACTGCCCCACCCCCACCCCCAGCAGCCTCAAGCCCTTAATTCCTGACAGCTGCGGTGGCTGCCGGCAGAGATGAGGGGGAAAGGAGGGGGGAGTATGCCGTCAGCCTGCTGTTGCTCAGGCCGCCCCCACCACCTGACAGTCTGGGGACAAGGAGGGCCCCACCCCCTCCTTCAGTTCCCCAGGGATGGGCA... |
Task1_train_5478 | A variant has been detected on Chromosome 2 in WNT10A (Wnt family member 10A). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Odonto-onycho-dermal dysplasia | AGGCTGGTTGGAGACTTGTACCAGAACTTGTTCCTAGCTGGTCCATTCTCAGATGCAGAATAAGCAAAAGATAGCTTGCATGTCTGAGAATGGGACCCTCCTTTGCAAGTAGGCCTCCCCCTGCCACAGGTCCAGGTGTTCCCAGAGAATGGCTCAGGTTGGAGCACCAAGAAGGAAGGCAGTGTGGACAAGCCAGTGGCCAGGCCGGCCTAGCCGCGGCCCCCAAGAGTGGCTTGGTCAGGGAAAATCTGTGCCTCCTGAACATCTGGTGGAAGGTATCTGCCTCAGCTTGCCCTTCCTTCTCCATGTTCAACACTACT... | AGGCTGGTTGGAGACTTGTACCAGAACTTGTTCCTAGCTGGTCCATTCTCAGATGCAGAATAAGCAAAAGATAGCTTGCATGTCTGAGAATGGGACCCTCCTTTGCAAGTAGGCCTCCCCCTGCCACAGGTCCAGGTGTTCCCAGAGAATGGCTCAGGTTGGAGCACCAAGAAGGAAGGCAGTGTGGACAAGCCAGTGGCCAGGCCGGCCTAGCCGCGGCCCCCAAGAGTGGCTTGGTCAGGGAAAATCTGTGCCTCCTGAACATCTGGTGGAAGGTATCTGCCTCAGCTTGCCCTTCCTTCTCCATGTTCAACACTACT... |
Task1_train_5479 | Here is a genetic alteration in WNT10A (Wnt family member 10A) on Chromosome 2. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Tooth agenesis, selective, 4 | AGGCTGGTTGGAGACTTGTACCAGAACTTGTTCCTAGCTGGTCCATTCTCAGATGCAGAATAAGCAAAAGATAGCTTGCATGTCTGAGAATGGGACCCTCCTTTGCAAGTAGGCCTCCCCCTGCCACAGGTCCAGGTGTTCCCAGAGAATGGCTCAGGTTGGAGCACCAAGAAGGAAGGCAGTGTGGACAAGCCAGTGGCCAGGCCGGCCTAGCCGCGGCCCCCAAGAGTGGCTTGGTCAGGGAAAATCTGTGCCTCCTGAACATCTGGTGGAAGGTATCTGCCTCAGCTTGCCCTTCCTTCTCCATGTTCAACACTACT... | AGGCTGGTTGGAGACTTGTACCAGAACTTGTTCCTAGCTGGTCCATTCTCAGATGCAGAATAAGCAAAAGATAGCTTGCATGTCTGAGAATGGGACCCTCCTTTGCAAGTAGGCCTCCCCCTGCCACAGGTCCAGGTGTTCCCAGAGAATGGCTCAGGTTGGAGCACCAAGAAGGAAGGCAGTGTGGACAAGCCAGTGGCCAGGCCGGCCTAGCCGCGGCCCCCAAGAGTGGCTTGGTCAGGGAAAATCTGTGCCTCCTGAACATCTGGTGGAAGGTATCTGCCTCAGCTTGCCCTTCCTTCTCCATGTTCAACACTACT... |
Task1_train_5480 | A genetic alteration is present in WNT10A (Wnt family member 10A) on Chromosome 2. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Odonto-onycho-dermal dysplasia | GCCTTTCTGTGCAGTCTAGAATGAGGGATTCCTGCAAAGTAAGGGGTGTAAGTGAAGTTCCTAGGGGCCACTGGGGAACTGTGTTATGGTGCCTTTCTCCTTTATCCTCTGTCCTCAAATGCTCCTACTACCTCAAGGGTCATTCATTAAAAATAAATTAAATACATACACACATACATAAAAAAGCAGCAGAAGAAAGGATAGTGGTAATAGCCTGCATTTATTGAGTGCTTACTATGTGTTAGGCACTGTCTTGAGCACTTTCCTACATATTAACCTATTTAATCCTTACAACTACCTATGAAGTGGGCACTGTTATT... | GCCTTTCTGTGCAGTCTAGAATGAGGGATTCCTGCAAAGTAAGGGGTGTAAGTGAAGTTCCTAGGGGCCACTGGGGAACTGTGTTATGGTGCCTTTCTCCTTTATCCTCTGTCCTCAAATGCTCCTACTACCTCAAGGGTCATTCATTAAAAATAAATTAAATACATACACACATACATAAAAAAGCAGCAGAAGAAAGGATAGTGGTAATAGCCTGCATTTATTGAGTGCTTACTATGTGTTAGGCACTGTCTTGAGCACTTTCCTACATATTAACCTATTTAATCCTTACAACTACCTATGAAGTGGGCACTGTTATT... |
Task1_train_5481 | A genomic change on Chromosome 2 affects WNT10A (Wnt family member 10A). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Odonto-onycho-dermal dysplasia | CAAAATGATGCAACTAGTGAGAAGGTGGTCCAGGCAGGGTTCATCCCCAGGCAGTTGACCTTTGAGCCTGTTCTCTTTTGTTCTACAGCGTTGAGTCCACATTCTGATGCCCTGTTGGCTCTCATGGTAGCTCAGCACTGTCCTTTCCTGAGCATTCCATCTCCATCATCCCTTCTTTTGACTCTGCTCAGCCTGTTGAGGCCTTTTACCTGGCTTCCTCTCACTCTGGCTGGCACCTTCTCCATCTCACTCTTCTTTCTCTTGGCCTCTTAGCCCACGATGGGTCATCTTCCTGCACAAAGCTGATTCAGCAATTCCCA... | CAAAATGATGCAACTAGTGAGAAGGTGGTCCAGGCAGGGTTCATCCCCAGGCAGTTGACCTTTGAGCCTGTTCTCTTTTGTTCTACAGCGTTGAGTCCACATTCTGATGCCCTGTTGGCTCTCATGGTAGCTCAGCACTGTCCTTTCCTGAGCATTCCATCTCCATCATCCCTTCTTTTGACTCTGCTCAGCCTGTTGAGGCCTTTTACCTGGCTTCCTCTCACTCTGGCTGGCACCTTCTCCATCTCACTCTTCTTTCTCTTGGCCTCTTAGCCCACGATGGGTCATCTTCCTGCACAAAGCTGATTCAGCAATTCCCA... |
Task1_train_5482 | This is a variant in IHH (Indian hedgehog signaling molecule), located on Chromosome 2. Is this mutation a likely cause of disease or not? | Pathogenic; not provided | GGCCGCGAAGCAGGATGCCACCACATCCTCCACCACCAGTGTCCCATGCTTTGTGAGCGGGGCGTAGGCCCCGAGGGCCACGTGTGTAGAGACAGCTGCCACGCGGGCAGGCTGCAGGCCTGGCACCCCAGCCACCAGCACGTACTGGCCAGGCTGCACGTGGCTGGCAAATGTGGCCCGGAAGCGGGCTGCCGGCTCCGTGTGATTGTCAGCCGTAAAGAGCAGGTGAGCGGGTGTGAGTGCCAGGCGGCGTGGGGGGTCCTGAGTCTCGATGACCTGGAAGGCTCTCAGCCTGTGAGGCTCGCGGTCCAGGAAAATGA... | GGCCGCGAAGCAGGATGCCACCACATCCTCCACCACCAGTGTCCCATGCTTTGTGAGCGGGGCGTAGGCCCCGAGGGCCACGTGTGTAGAGACAGCTGCCACGCGGGCAGGCTGCAGGCCTGGCACCCCAGCCACCAGCACGTACTGGCCAGGCTGCACGTGGCTGGCAAATGTGGCCCGGAAGCGGGCTGCCGGCTCCGTGTGATTGTCAGCCGTAAAGAGCAGGTGAGCGGGTGTGAGTGCCAGGCGGCGTGGGGGGTCCTGAGTCTCGATGACCTGGAAGGCTCTCAGCCTGTGAGGCTCGCGGTCCAGGAAAATGA... |
Task1_train_5483 | The following genetic variant occurs in IHH (Indian hedgehog signaling molecule) on Chromosome 2. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Brachydactyly type A1 | AGGCTGCAGGCCTGGCACCCCAGCCACCAGCACGTACTGGCCAGGCTGCACGTGGCTGGCAAATGTGGCCCGGAAGCGGGCTGCCGGCTCCGTGTGATTGTCAGCCGTAAAGAGCAGGTGAGCGGGTGTGAGTGCCAGGCGGCGTGGGGGGTCCTGAGTCTCGATGACCTGGAAGGCTCTCAGCCTGTGAGGCTCGCGGTCCAGGAAAATGAGCACATCGCTGAAGGTGGGGCTCCCATCCTCCCCCATGGCCAGCACACGGTCTCCCGGCCTCACGGCTGACAAGGCCACACGCGCCCCACTCTCCAGGCGTACCTGGG... | AGGCTGCAGGCCTGGCACCCCAGCCACCAGCACGTACTGGCCAGGCTGCACGTGGCTGGCAAATGTGGCCCGGAAGCGGGCTGCCGGCTCCGTGTGATTGTCAGCCGTAAAGAGCAGGTGAGCGGGTGTGAGTGCCAGGCGGCGTGGGGGGTCCTGAGTCTCGATGACCTGGAAGGCTCTCAGCCTGTGAGGCTCGCGGTCCAGGAAAATGAGCACATCGCTGAAGGTGGGGCTCCCATCCTCCCCCATGGCCAGCACACGGTCTCCCGGCCTCACGGCTGACAAGGCCACACGCGCCCCACTCTCCAGGCGTACCTGGG... |
Task1_train_5484 | Here is a genetic alteration in IHH (Indian hedgehog signaling molecule) on Chromosome 2. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; not provided | CGGAAGCGGGCTGCCGGCTCCGTGTGATTGTCAGCCGTAAAGAGCAGGTGAGCGGGTGTGAGTGCCAGGCGGCGTGGGGGGTCCTGAGTCTCGATGACCTGGAAGGCTCTCAGCCTGTGAGGCTCGCGGTCCAGGAAAATGAGCACATCGCTGAAGGTGGGGCTCCCATCCTCCCCCATGGCCAGCACACGGTCTCCCGGCCTCACGGCTGACAAGGCCACACGCGCCCCACTCTCCAGGCGTACCTGGGCTCCGGCAGGGAAGCAGCCGCCCGTCTTGGCTGCGGCCGAGTGCTCTGTGGGAGAAAGGGACATGAAGGT... | CGGAAGCGGGCTGCCGGCTCCGTGTGATTGTCAGCCGTAAAGAGCAGGTGAGCGGGTGTGAGTGCCAGGCGGCGTGGGGGGTCCTGAGTCTCGATGACCTGGAAGGCTCTCAGCCTGTGAGGCTCGCGGTCCAGGAAAATGAGCACATCGCTGAAGGTGGGGCTCCCATCCTCCCCCATGGCCAGCACACGGTCTCCCGGCCTCACGGCTGACAAGGCCACACGCGCCCCACTCTCCAGGCGTACCTGGGCTCCGGCAGGGAAGCAGCCGCCCGTCTTGGCTGCGGCCGAGTGCTCTGTGGGAGAAAGGGACATGAAGGT... |
Task1_train_5485 | This alteration in IHH (Indian hedgehog signaling molecule) on Chromosome 2 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Brachydactyly type A1 | GAAGCGGGCTGCCGGCTCCGTGTGATTGTCAGCCGTAAAGAGCAGGTGAGCGGGTGTGAGTGCCAGGCGGCGTGGGGGGTCCTGAGTCTCGATGACCTGGAAGGCTCTCAGCCTGTGAGGCTCGCGGTCCAGGAAAATGAGCACATCGCTGAAGGTGGGGCTCCCATCCTCCCCCATGGCCAGCACACGGTCTCCCGGCCTCACGGCTGACAAGGCCACACGCGCCCCACTCTCCAGGCGTACCTGGGCTCCGGCAGGGAAGCAGCCGCCCGTCTTGGCTGCGGCCGAGTGCTCTGTGGGAGAAAGGGACATGAAGGTGT... | GAAGCGGGCTGCCGGCTCCGTGTGATTGTCAGCCGTAAAGAGCAGGTGAGCGGGTGTGAGTGCCAGGCGGCGTGGGGGGTCCTGAGTCTCGATGACCTGGAAGGCTCTCAGCCTGTGAGGCTCGCGGTCCAGGAAAATGAGCACATCGCTGAAGGTGGGGCTCCCATCCTCCCCCATGGCCAGCACACGGTCTCCCGGCCTCACGGCTGACAAGGCCACACGCGCCCCACTCTCCAGGCGTACCTGGGCTCCGGCAGGGAAGCAGCCGCCCGTCTTGGCTGCGGCCGAGTGCTCTGTGGGAGAAAGGGACATGAAGGTGT... |
Task1_train_5486 | This mutation occurs in IHH (Indian hedgehog signaling molecule) on Chromosome 2. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Brachydactyly type A1 | ACTGCCTGCGGCCGGCCTGCGAGGCGTGCAAGGCCCGAGGTGCCCAGTAGGTGTCACCGCAGCCTCAGGGCTGAGGCCTGGGGACGACAGGCTCTGGAGGCGCGGCAGGTGCAGAGCGTCTCGGTAGCTTCAGGGGGTGTGTTGGAGGGGAATCGCCGGCCTGCCTGGATCCCTCGAGCACCACCGAGGATTCCCGCCGGGACCCTCTTATAATCTTAAACCGGCCCACAACCCCGCCAGAGATGACAGGGCCAGGGAACCAGAAACCGGCGGATTAGCGCCAGGGCCGCCCAATGGGGGGCCACATGCAACGTCTTCCT... | ACTGCCTGCGGCCGGCCTGCGAGGCGTGCAAGGCCCGAGGTGCCCAGTAGGTGTCACCGCAGCCTCAGGGCTGAGGCCTGGGGACGACAGGCTCTGGAGGCGCGGCAGGTGCAGAGCGTCTCGGTAGCTTCAGGGGGTGTGTTGGAGGGGAATCGCCGGCCTGCCTGGATCCCTCGAGCACCACCGAGGATTCCCGCCGGGACCCTCTTATAATCTTAAACCGGCCCACAACCCCGCCAGAGATGACAGGGCCAGGGAACCAGAAACCGGCGGATTAGCGCCAGGGCCGCCCAATGGGGGGCCACATGCAACGTCTTCCT... |
Task1_train_5487 | A mutation in IHH (Indian hedgehog signaling molecule), located on Chromosome 2, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Brachydactyly type A1A | TGCCTGCGGCCGGCCTGCGAGGCGTGCAAGGCCCGAGGTGCCCAGTAGGTGTCACCGCAGCCTCAGGGCTGAGGCCTGGGGACGACAGGCTCTGGAGGCGCGGCAGGTGCAGAGCGTCTCGGTAGCTTCAGGGGGTGTGTTGGAGGGGAATCGCCGGCCTGCCTGGATCCCTCGAGCACCACCGAGGATTCCCGCCGGGACCCTCTTATAATCTTAAACCGGCCCACAACCCCGCCAGAGATGACAGGGCCAGGGAACCAGAAACCGGCGGATTAGCGCCAGGGCCGCCCAATGGGGGGCCACATGCAACGTCTTCCTCT... | TGCCTGCGGCCGGCCTGCGAGGCGTGCAAGGCCCGAGGTGCCCAGTAGGTGTCACCGCAGCCTCAGGGCTGAGGCCTGGGGACGACAGGCTCTGGAGGCGCGGCAGGTGCAGAGCGTCTCGGTAGCTTCAGGGGGTGTGTTGGAGGGGAATCGCCGGCCTGCCTGGATCCCTCGAGCACCACCGAGGATTCCCGCCGGGACCCTCTTATAATCTTAAACCGGCCCACAACCCCGCCAGAGATGACAGGGCCAGGGAACCAGAAACCGGCGGATTAGCGCCAGGGCCGCCCAATGGGGGGCCACATGCAACGTCTTCCTCT... |
Task1_train_5488 | Here is a mutation in IHH (Indian hedgehog signaling molecule) on Chromosome 2. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Brachydactyly type A1 | CTGCGAGGCGTGCAAGGCCCGAGGTGCCCAGTAGGTGTCACCGCAGCCTCAGGGCTGAGGCCTGGGGACGACAGGCTCTGGAGGCGCGGCAGGTGCAGAGCGTCTCGGTAGCTTCAGGGGGTGTGTTGGAGGGGAATCGCCGGCCTGCCTGGATCCCTCGAGCACCACCGAGGATTCCCGCCGGGACCCTCTTATAATCTTAAACCGGCCCACAACCCCGCCAGAGATGACAGGGCCAGGGAACCAGAAACCGGCGGATTAGCGCCAGGGCCGCCCAATGGGGGGCCACATGCAACGTCTTCCTCTGCAAGGCGCAAAAG... | CTGCGAGGCGTGCAAGGCCCGAGGTGCCCAGTAGGTGTCACCGCAGCCTCAGGGCTGAGGCCTGGGGACGACAGGCTCTGGAGGCGCGGCAGGTGCAGAGCGTCTCGGTAGCTTCAGGGGGTGTGTTGGAGGGGAATCGCCGGCCTGCCTGGATCCCTCGAGCACCACCGAGGATTCCCGCCGGGACCCTCTTATAATCTTAAACCGGCCCACAACCCCGCCAGAGATGACAGGGCCAGGGAACCAGAAACCGGCGGATTAGCGCCAGGGCCGCCCAATGGGGGGCCACATGCAACGTCTTCCTCTGCAAGGCGCAAAAG... |
Task1_train_5489 | Here is a genetic alteration in IHH (Indian hedgehog signaling molecule) on Chromosome 2. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; not provided | TGCGAGGCGTGCAAGGCCCGAGGTGCCCAGTAGGTGTCACCGCAGCCTCAGGGCTGAGGCCTGGGGACGACAGGCTCTGGAGGCGCGGCAGGTGCAGAGCGTCTCGGTAGCTTCAGGGGGTGTGTTGGAGGGGAATCGCCGGCCTGCCTGGATCCCTCGAGCACCACCGAGGATTCCCGCCGGGACCCTCTTATAATCTTAAACCGGCCCACAACCCCGCCAGAGATGACAGGGCCAGGGAACCAGAAACCGGCGGATTAGCGCCAGGGCCGCCCAATGGGGGGCCACATGCAACGTCTTCCTCTGCAAGGCGCAAAAGG... | TGCGAGGCGTGCAAGGCCCGAGGTGCCCAGTAGGTGTCACCGCAGCCTCAGGGCTGAGGCCTGGGGACGACAGGCTCTGGAGGCGCGGCAGGTGCAGAGCGTCTCGGTAGCTTCAGGGGGTGTGTTGGAGGGGAATCGCCGGCCTGCCTGGATCCCTCGAGCACCACCGAGGATTCCCGCCGGGACCCTCTTATAATCTTAAACCGGCCCACAACCCCGCCAGAGATGACAGGGCCAGGGAACCAGAAACCGGCGGATTAGCGCCAGGGCCGCCCAATGGGGGGCCACATGCAACGTCTTCCTCTGCAAGGCGCAAAAGG... |
Task1_train_5490 | Gene IHH (Indian hedgehog signaling molecule) on Chromosome 2 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; not provided | TTCAGGGGGTGTGTTGGAGGGGAATCGCCGGCCTGCCTGGATCCCTCGAGCACCACCGAGGATTCCCGCCGGGACCCTCTTATAATCTTAAACCGGCCCACAACCCCGCCAGAGATGACAGGGCCAGGGAACCAGAAACCGGCGGATTAGCGCCAGGGCCGCCCAATGGGGGGCCACATGCAACGTCTTCCTCTGCAAGGCGCAAAAGGGGCTGACAATCCCAGACCTCCAGGACCTCTGCACCGGTGCCCCGCCCCTATACCGTAGGAAGGAACTCCATAAACCAAGCTTCTGATCTCAGGGAGCCAGCTCCACCATCC... | TTCAGGGGGTGTGTTGGAGGGGAATCGCCGGCCTGCCTGGATCCCTCGAGCACCACCGAGGATTCCCGCCGGGACCCTCTTATAATCTTAAACCGGCCCACAACCCCGCCAGAGATGACAGGGCCAGGGAACCAGAAACCGGCGGATTAGCGCCAGGGCCGCCCAATGGGGGGCCACATGCAACGTCTTCCTCTGCAAGGCGCAAAAGGGGCTGACAATCCCAGACCTCCAGGACCTCTGCACCGGTGCCCCGCCCCTATACCGTAGGAAGGAACTCCATAAACCAAGCTTCTGATCTCAGGGAGCCAGCTCCACCATCC... |
Task1_train_5491 | Given this variant in gene IHH (Indian hedgehog signaling molecule) on Chromosome 2, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Acrocapitofemoral dysplasia | CCTGGATCCCTCGAGCACCACCGAGGATTCCCGCCGGGACCCTCTTATAATCTTAAACCGGCCCACAACCCCGCCAGAGATGACAGGGCCAGGGAACCAGAAACCGGCGGATTAGCGCCAGGGCCGCCCAATGGGGGGCCACATGCAACGTCTTCCTCTGCAAGGCGCAAAAGGGGCTGACAATCCCAGACCTCCAGGACCTCTGCACCGGTGCCCCGCCCCTATACCGTAGGAAGGAACTCCATAAACCAAGCTTCTGATCTCAGGGAGCCAGCTCCACCATCCTCCTCACGTGGAGTTGGGGTAGAGCCGCGCCCTGG... | CCTGGATCCCTCGAGCACCACCGAGGATTCCCGCCGGGACCCTCTTATAATCTTAAACCGGCCCACAACCCCGCCAGAGATGACAGGGCCAGGGAACCAGAAACCGGCGGATTAGCGCCAGGGCCGCCCAATGGGGGGCCACATGCAACGTCTTCCTCTGCAAGGCGCAAAAGGGGCTGACAATCCCAGACCTCCAGGACCTCTGCACCGGTGCCCCGCCCCTATACCGTAGGAAGGAACTCCATAAACCAAGCTTCTGATCTCAGGGAGCCAGCTCCACCATCCTCCTCACGTGGAGTTGGGGTAGAGCCGCGCCCTGG... |
Task1_train_5492 | Given a variant located on Chromosome 2 and affecting NHEJ1 (non-homologous end joining factor 1), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Cernunnos-XLF deficiency | TTAAATTTATTAAATTTTATTTATGTATTTTTATTTGCAAGATGGAAAAGTTCACAAGAAATTAATTTAAAATAAACAAATGTGAGTATATGCTAAGTACTGTTGATAGACCTTAGAAGTTAATAAATGAATAAGTAATTCTCTCAGCACTCAGTTCTAGTTTTACTGGGCTCCAGATCAAAAATAAACATCAGGGCCGGGCGCAGTGGCTCACGCCTCTAATCCCAGCACTTTGGGAGGCCGAGGTGAGCGGATCACGAGGTCAGGAAATCGAGACCATCCTGGCTAACACGATGAAACCCTGTCTCTACTAAAAAATA... | TTAAATTTATTAAATTTTATTTATGTATTTTTATTTGCAAGATGGAAAAGTTCACAAGAAATTAATTTAAAATAAACAAATGTGAGTATATGCTAAGTACTGTTGATAGACCTTAGAAGTTAATAAATGAATAAGTAATTCTCTCAGCACTCAGTTCTAGTTTTACTGGGCTCCAGATCAAAAATAAACATCAGGGCCGGGCGCAGTGGCTCACGCCTCTAATCCCAGCACTTTGGGAGGCCGAGGTGAGCGGATCACGAGGTCAGGAAATCGAGACCATCCTGGCTAACACGATGAAACCCTGTCTCTACTAAAAAATA... |
Task1_train_5493 | Gene ABCB6 (ATP binding cassette subfamily B member 6 (LAN blood group)) on Chromosome 2 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Microphthalmia, isolated, with coloboma 7 | TCCACTGGACCATGATTGCTCTGGGGAGGGGCACCCAACCAGCCGGGCAGGGTAATGGCAGCCAAGTCCTCCACTTGCTTTTGGGAAGCATTCTTTTGGAACTGACTCAAGCTCTGTTGTTATAAATTGGGGAGCTTCAACCCTACCCTGTCGGCTAGGGGAGTCTTTTAGCTTCCTTTTCAAGTGCATGTTTTTCCAGAACTCCCCTCCTGACTTCCTGGGTAAGGCTAGTTCTTGGAGACATGCCAAAAATCTCTCTTCCCTACAGACTTGCTGCCATCTCCAGAGCACAAGCTGTGGCTTCTACAAGCACTGTCCCC... | TCCACTGGACCATGATTGCTCTGGGGAGGGGCACCCAACCAGCCGGGCAGGGTAATGGCAGCCAAGTCCTCCACTTGCTTTTGGGAAGCATTCTTTTGGAACTGACTCAAGCTCTGTTGTTATAAATTGGGGAGCTTCAACCCTACCCTGTCGGCTAGGGGAGTCTTTTAGCTTCCTTTTCAAGTGCATGTTTTTCCAGAACTCCCCTCCTGACTTCCTGGGTAAGGCTAGTTCTTGGAGACATGCCAAAAATCTCTCTTCCCTACAGACTTGCTGCCATCTCCAGAGCACAAGCTGTGGCTTCTACAAGCACTGTCCCC... |
Task1_train_5494 | This variant lies on Chromosome 2 and affects the gene ABCB6 (ATP binding cassette subfamily B member 6 (LAN blood group)). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Dyschromatosis universalis hereditaria 3 | TCTGTTTCCCCATCTTCTCTTCCTGCTTCACCAGATTGCTGCAGATGTTTTGTTTTGTTTTTGGATAGAGTCCACTCTGTCACCCAGGCTGGACTGCAGTGGCAAAATCTCGGCTTACTGCAGCCTTGACCTCCTGGCTCATGCAATCCTCCTACCTCAGCTTCCTGAGTAGCTGAGACCACAGGTGCTTGAGACTACGTCAAGCTAATTTTTAATTTTTTGTTGAGATGGGGTTGCCAGGTATGTTGCCCAGGCTGGTCTCAAAATCCTGGACTCAAATGATCCTGCTGCCTTGACCTCCTAAAGTGTTGGGATTACAG... | TCTGTTTCCCCATCTTCTCTTCCTGCTTCACCAGATTGCTGCAGATGTTTTGTTTTGTTTTTGGATAGAGTCCACTCTGTCACCCAGGCTGGACTGCAGTGGCAAAATCTCGGCTTACTGCAGCCTTGACCTCCTGGCTCATGCAATCCTCCTACCTCAGCTTCCTGAGTAGCTGAGACCACAGGTGCTTGAGACTACGTCAAGCTAATTTTTAATTTTTTGTTGAGATGGGGTTGCCAGGTATGTTGCCCAGGCTGGTCTCAAAATCCTGGACTCAAATGATCCTGCTGCCTTGACCTCCTAAAGTGTTGGGATTACAG... |
Task1_train_5495 | Here’s a variant in ABCB6 (ATP binding cassette subfamily B member 6 (LAN blood group)) located on Chromosome 2. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Dyschromatosis universalis hereditaria 3 | TGCTTGAGACTACGTCAAGCTAATTTTTAATTTTTTGTTGAGATGGGGTTGCCAGGTATGTTGCCCAGGCTGGTCTCAAAATCCTGGACTCAAATGATCCTGCTGCCTTGACCTCCTAAAGTGTTGGGATTACAGGTGTGAGCCACCACACCTGGCTACAGAATATCGTTGTACCTTTTTTTTTTTTTTTTTTTTGTTTTGCTTTTTGTTTTGAGACAGGGCCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCATGATCATAGCTCACTACAGCCTCCTGGTGGGACTACATGTGTGTGCCACCATGGCCAGCTAATT... | TGCTTGAGACTACGTCAAGCTAATTTTTAATTTTTTGTTGAGATGGGGTTGCCAGGTATGTTGCCCAGGCTGGTCTCAAAATCCTGGACTCAAATGATCCTGCTGCCTTGACCTCCTAAAGTGTTGGGATTACAGGTGTGAGCCACCACACCTGGCTACAGAATATCGTTGTACCTTTTTTTTTTTTTTTTTTTTGTTTTGCTTTTTGTTTTGAGACAGGGCCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCATGATCATAGCTCACTACAGCCTCCTGGTGGGACTACATGTGTGTGCCACCATGGCCAGCTAATT... |
Task1_train_5496 | A variant affecting Chromosome 2, within the gene ABCB6 (ATP binding cassette subfamily B member 6 (LAN blood group)), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Familial pseudohyperkalemia | TGTCCTATACACAATGGCCATCAGTGAGTCCAAACCTGGGCCCAGGCCCCTTCTACCCCAACACTCGACTATCACTCTTGGCCCTGAAAATTCTACCAGGCCAGGGCATTATTCTCCGGAGGCCTCAAACTAGCATCCTCACCTGATATTTGATGATGGCCTCTCGATAGCGTTCCACTTCGTAACTCTCGGCGTTGTAATACTTCACCTGATGAATTCAAACCAAATTTATTTGGCATGGGCACAGCACATGGCACTCGGGTCATTCCCCCCAACTCTCAATCCTCCTTCCTGAGTTCAAACATCACACACAAACATCA... | TGTCCTATACACAATGGCCATCAGTGAGTCCAAACCTGGGCCCAGGCCCCTTCTACCCCAACACTCGACTATCACTCTTGGCCCTGAAAATTCTACCAGGCCAGGGCATTATTCTCCGGAGGCCTCAAACTAGCATCCTCACCTGATATTTGATGATGGCCTCTCGATAGCGTTCCACTTCGTAACTCTCGGCGTTGTAATACTTCACCTGATGAATTCAAACCAAATTTATTTGGCATGGGCACAGCACATGGCACTCGGGTCATTCCCCCCAACTCTCAATCCTCCTTCCTGAGTTCAAACATCACACACAAACATCA... |
Task1_train_5497 | This variant affects gene ABCB6 (ATP binding cassette subfamily B member 6 (LAN blood group)) located on Chromosome 2. Evaluate its biological effect and specify any disease association. | Pathogenic; Dyschromatosis universalis hereditaria 3 | CCAACACTCGACTATCACTCTTGGCCCTGAAAATTCTACCAGGCCAGGGCATTATTCTCCGGAGGCCTCAAACTAGCATCCTCACCTGATATTTGATGATGGCCTCTCGATAGCGTTCCACTTCGTAACTCTCGGCGTTGTAATACTTCACCTGATGAATTCAAACCAAATTTATTTGGCATGGGCACAGCACATGGCACTCGGGTCATTCCCCCCAACTCTCAATCCTCCTTCCTGAGTTCAAACATCACACACAAACATCACACCCCCAGCTCTCTGTCAGCCCCAGTGGTCCTGGTTACACTCCTCCACATCTCCAC... | CCAACACTCGACTATCACTCTTGGCCCTGAAAATTCTACCAGGCCAGGGCATTATTCTCCGGAGGCCTCAAACTAGCATCCTCACCTGATATTTGATGATGGCCTCTCGATAGCGTTCCACTTCGTAACTCTCGGCGTTGTAATACTTCACCTGATGAATTCAAACCAAATTTATTTGGCATGGGCACAGCACATGGCACTCGGGTCATTCCCCCCAACTCTCAATCCTCCTTCCTGAGTTCAAACATCACACACAAACATCACACCCCCAGCTCTCTGTCAGCCCCAGTGGTCCTGGTTACACTCCTCCACATCTCCAC... |
Task1_train_5498 | Gene ABCB6 (ATP binding cassette subfamily B member 6 (LAN blood group)) on Chromosome 2 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Dyschromatosis universalis hereditaria 3 | CCCGCCGAGACGTGAACTGCTGCACCCGGATCCACAGGAAGGTGCGCAGGTTGCTCACGAAGCCTGCAGGGAGCCGGGGGACGCCTCAGTAGGGCCTGGGAGCTGAGGGACGTCAGCCCAGCACCAGGATGTGAAAGGTCTGAGAGTACATGGGGGCTGGGGAGGAATGCTGGGAGAGGCGGATGCTGAGGGAATGCCTGTGGGAGGGACCTATACCTAGCAGGGTGAGGGCGGAGTCTCTCATACCTGTACTGCCAGTGCCACCCCCCTGGAGGAACTTGAGGAAGACGTAACTGGTAACAGTCCAGGCCAGAGAGTTC... | CCCGCCGAGACGTGAACTGCTGCACCCGGATCCACAGGAAGGTGCGCAGGTTGCTCACGAAGCCTGCAGGGAGCCGGGGGACGCCTCAGTAGGGCCTGGGAGCTGAGGGACGTCAGCCCAGCACCAGGATGTGAAAGGTCTGAGAGTACATGGGGGCTGGGGAGGAATGCTGGGAGAGGCGGATGCTGAGGGAATGCCTGTGGGAGGGACCTATACCTAGCAGGGTGAGGGCGGAGTCTCTCATACCTGTACTGCCAGTGCCACCCCCCTGGAGGAACTTGAGGAAGACGTAACTGGTAACAGTCCAGGCCAGAGAGTTC... |
Task1_train_5499 | A mutation found in TUBA4A (tubulin alpha 4a) on Chromosome 2 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Amyotrophic lateral sclerosis type 22 | GTCAGCTGGAGGCGCTTCAGCCCCCAGCTCCTGGCCAACATACTACCCAAATCTGAAAAAGCAGCATGTTGAGAAGATGGCCCCTTGTGCCTTGGAAAGAGGTTCCCATCCCTCATTGGAATCACCACCCATTCCATCCAGGACTTCTCTTACACTTGGGGGTAGCGGGGTCAGGACAATCATCTCAGTCCTGCATCTTTTCTTCTGCTTTCTTCCCTCCAAGAGCAAAACCTGGGCAAGGGGACTTACTGAGTGGGGGTGGGTGGGGGTTGGGAAAAGGGAAACTGGTGGGATATGGAACATGGCTCTGAGCAGGACTG... | GTCAGCTGGAGGCGCTTCAGCCCCCAGCTCCTGGCCAACATACTACCCAAATCTGAAAAAGCAGCATGTTGAGAAGATGGCCCCTTGTGCCTTGGAAAGAGGTTCCCATCCCTCATTGGAATCACCACCCATTCCATCCAGGACTTCTCTTACACTTGGGGGTAGCGGGGTCAGGACAATCATCTCAGTCCTGCATCTTTTCTTCTGCTTTCTTCCCTCCAAGAGCAAAACCTGGGCAAGGGGACTTACTGAGTGGGGGTGGGTGGGGGTTGGGAAAAGGGAAACTGGTGGGATATGGAACATGGCTCTGAGCAGGACTG... |
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