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_8700 | The variant affects gene TACR3, TACR3-AS1 (tachykinin receptor 3| TACR3 antisense RNA 1), which is on Chromosome 4. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Hypogonadotropic hypogonadism 11 with or without anosmia | TAAATTTAAAGCCCATTTTATTTTGGGTGGAGGCTAACATGTTATTAGTGTCTTTGTCACATTTATACACTACCTTTCTCAATTTGACCATAGCTGCCTAAAAATTGCTTTCTGTTTCTAGAGGGTATATAGGACAGGACTGGTAAATAGGAGAATGGGGTCCTAGACTGGCACCATGATGGTCTCACACTAATCTTTTACCTCAGGAAATGGAATTAAGAATATTCATCCACAGAGGTATAGGGTGAGCTTATGAAACTTGAAGTGGCGGAGGCAGATTTGGAATTCCTGCGAGAGCAGCCATTGAAACTTGGGTCTCT... | TAAATTTAAAGCCCATTTTATTTTGGGTGGAGGCTAACATGTTATTAGTGTCTTTGTCACATTTATACACTACCTTTCTCAATTTGACCATAGCTGCCTAAAAATTGCTTTCTGTTTCTAGAGGGTATATAGGACAGGACTGGTAAATAGGAGAATGGGGTCCTAGACTGGCACCATGATGGTCTCACACTAATCTTTTACCTCAGGAAATGGAATTAAGAATATTCATCCACAGAGGTATAGGGTGAGCTTATGAAACTTGAAGTGGCGGAGGCAGATTTGGAATTCCTGCGAGAGCAGCCATTGAAACTTGGGTCTCT... |
Task1_train_8701 | This alteration in TACR3 (tachykinin receptor 3) on Chromosome 4 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Hypogonadotropic hypogonadism 11 with or without anosmia | TTCACAATAGCAAAGACTTGGAACCAACCCAAATGTCCAACAACGATAGACTGGATTAAGAAACTGTGGCACATATACACCATGGAATACTATGCAGCCATAAAAAATGATGAGTTCATGTCCTTTGTAGTGACATGGATGAAACTGGAAACATCATTCTCAGCAAACTATTGCAAGGACAAAAATCCACACACCGCATGTTCTCACTCATTGGTGGGAACTGAACCATGAGAACAGATGGACACAGGAAGGGGAACATCACACACCAGGGACTGTTGTGGGGTGGGGGGAGGGGGGAGGGATAGCATTAGGAGATATAC... | TTCACAATAGCAAAGACTTGGAACCAACCCAAATGTCCAACAACGATAGACTGGATTAAGAAACTGTGGCACATATACACCATGGAATACTATGCAGCCATAAAAAATGATGAGTTCATGTCCTTTGTAGTGACATGGATGAAACTGGAAACATCATTCTCAGCAAACTATTGCAAGGACAAAAATCCACACACCGCATGTTCTCACTCATTGGTGGGAACTGAACCATGAGAACAGATGGACACAGGAAGGGGAACATCACACACCAGGGACTGTTGTGGGGTGGGGGGAGGGGGGAGGGATAGCATTAGGAGATATAC... |
Task1_train_8702 | This sequence variant lies in TACR3 (tachykinin receptor 3) on Chromosome 4. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Hypogonadotropic hypogonadism 11 with or without anosmia | TGTTAATAGTTTTAATGATTAATGCTTTACACAAAGAAATAGTAAAGATTAATAGTAAAGTATTCATTAATTCAAACCAATGACTGTAATAAGATAGCACTAAATGATTATTTAAAATAACTCCAAGACAATCCCATAAATGTTGGCAGGAAGAAATTGGAAAGAGAAAAATACAACCTTTTTTTCCCCTTCAAATTGAAATACAGATTTCACATGCACTAAAATTTTCTTCAAAGTTCATATTGCATGATTAATCTTTCAAGAAGACTGTAAGAATTTTATAACATTATATGCTAATACCTCTCCCCCTAATCAAAACA... | TGTTAATAGTTTTAATGATTAATGCTTTACACAAAGAAATAGTAAAGATTAATAGTAAAGTATTCATTAATTCAAACCAATGACTGTAATAAGATAGCACTAAATGATTATTTAAAATAACTCCAAGACAATCCCATAAATGTTGGCAGGAAGAAATTGGAAAGAGAAAAATACAACCTTTTTTTCCCCTTCAAATTGAAATACAGATTTCACATGCACTAAAATTTTCTTCAAAGTTCATATTGCATGATTAATCTTTCAAGAAGACTGTAAGAATTTTATAACATTATATGCTAATACCTCTCCCCCTAATCAAAACA... |
Task1_train_8703 | A mutation on Chromosome 4 affecting TET2, TET2-AS1 (tet methylcytosine dioxygenase 2| TET2 antisense RNA 1) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; not provided | GGGTATCCTTGACAATAAACCAAGCAATATTCTGGGGGTGGGATAGAGCAGGAAATTTTATTTTTAATCTTTTAAAATCCAAGTAATAGGTAGGCTTCCAGTTAGCTTTAAATGTTTTTTTTTTCCAGCTCAAAAAATTGGATTGTAGTTGATACTACATATAATACATTCTAATTCCCTCACTGTATTCTTTGTTTAGTTTCATTTATTTGGTTTAAAATAATTTTTTATCCCATATCTGAAATGTAATATATTTTTATCCAACAACCAGCATGTACATATACTTAATTATGTGGCACATTTTCTAATAGATCAGTCCA... | GGGTATCCTTGACAATAAACCAAGCAATATTCTGGGGGTGGGATAGAGCAGGAAATTTTATTTTTAATCTTTTAAAATCCAAGTAATAGGTAGGCTTCCAGTTAGCTTTAAATGTTTTTTTTTTCCAGCTCAAAAAATTGGATTGTAGTTGATACTACATATAATACATTCTAATTCCCTCACTGTATTCTTTGTTTAGTTTCATTTATTTGGTTTAAAATAATTTTTTATCCCATATCTGAAATGTAATATATTTTTATCCAACAACCAGCATGTACATATACTTAATTATGTGGCACATTTTCTAATAGATCAGTCCA... |
Task1_train_8704 | This sequence variant lies in PPA2 (inorganic pyrophosphatase 2) on Chromosome 4. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Sudden cardiac failure, infantile | ACTGCTTGTACAAAGATGAAAAGTTTTTGATTTCCTTCATTTTCATCCTTAAATAAGTAATGAAAACCAAATTCTGAATATAATCTACATAGATACAAAACTGATAACTTGGAGAAAATAATGTGGCCTGCATTATTGTGACAGCTTCCTTGTATCTTCTCTAATCTAATTATGGCCTACAGCCCATTCTCACCAATGCAGCCAGAATGATCTTGTTAAAATCAAAGTCAGATTAGACCACTCCTTTGCTGAAAATATTTTAATGGTTCCCTACCTCATTCAGAATAAGAAATGCAATCCTTAAATAGCCTGCACAGAGT... | ACTGCTTGTACAAAGATGAAAAGTTTTTGATTTCCTTCATTTTCATCCTTAAATAAGTAATGAAAACCAAATTCTGAATATAATCTACATAGATACAAAACTGATAACTTGGAGAAAATAATGTGGCCTGCATTATTGTGACAGCTTCCTTGTATCTTCTCTAATCTAATTATGGCCTACAGCCCATTCTCACCAATGCAGCCAGAATGATCTTGTTAAAATCAAAGTCAGATTAGACCACTCCTTTGCTGAAAATATTTTAATGGTTCCCTACCTCATTCAGAATAAGAAATGCAATCCTTAAATAGCCTGCACAGAGT... |
Task1_train_8705 | A variant was discovered in gene PPA2 (inorganic pyrophosphatase 2), Chromosome 4. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Sudden cardiac failure, infantile | CAACATAGTACTGGAAGTCCTAGCCAGACCAATCACCCAAGAGAAGGAAATAAAAGGTATCTAAATTGGAAAAGAGGAAGTCAAATGATCTCTGTTCACTAATGACATGATAGTGTAGCTAGGAAACCCTAAAGGCTCCTCCAAAAGACTCCTAGACTTGTTAAACAACTTCGATAAAGTTTAAGGATACAAAATCTATATATAAAAATTAATAGTATTTCTACATACCAATAATGTTCAAGTTGAGAACAAAATTAAAAAATCTCATTTGCAACAGCCACACACACACACGCATCATACACACACACACACACCCCGCA... | CAACATAGTACTGGAAGTCCTAGCCAGACCAATCACCCAAGAGAAGGAAATAAAAGGTATCTAAATTGGAAAAGAGGAAGTCAAATGATCTCTGTTCACTAATGACATGATAGTGTAGCTAGGAAACCCTAAAGGCTCCTCCAAAAGACTCCTAGACTTGTTAAACAACTTCGATAAAGTTTAAGGATACAAAATCTATATATAAAAATTAATAGTATTTCTACATACCAATAATGTTCAAGTTGAGAACAAAATTAAAAAATCTCATTTGCAACAGCCACACACACACACGCATCATACACACACACACACACCCCGCA... |
Task1_train_8706 | This alteration in PPA2 (inorganic pyrophosphatase 2) on Chromosome 4 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Sudden cardiac failure, infantile | CTCATGTTCTCACCTATATGTGGAATCTAAAAAATTGAACTCATAAAAGCAGAGAGTGGAATTATAGTTACAGAGGCTAAGGGTAGGGGGAATAGGGAAATGATAGTCAAAGGATACAAAATCTCAGACATGAAGAATAAGATGTTTTATTGTTGAGACAACACAACTTGATGAGTATAGTTAATAACGTACATTTCAAAATTGCTAAGAGTAAATTTCAAATGTTCTCACCACAAAAAATGGTAAGTATTTGATGTGACAGATATATTATTTAGCTTAAGTTATTCCATACTGTATTCATAAGTCATAATGTCACTTTG... | CTCATGTTCTCACCTATATGTGGAATCTAAAAAATTGAACTCATAAAAGCAGAGAGTGGAATTATAGTTACAGAGGCTAAGGGTAGGGGGAATAGGGAAATGATAGTCAAAGGATACAAAATCTCAGACATGAAGAATAAGATGTTTTATTGTTGAGACAACACAACTTGATGAGTATAGTTAATAACGTACATTTCAAAATTGCTAAGAGTAAATTTCAAATGTTCTCACCACAAAAAATGGTAAGTATTTGATGTGACAGATATATTATTTAGCTTAAGTTATTCCATACTGTATTCATAAGTCATAATGTCACTTTG... |
Task1_train_8707 | Here is a mutation in PPA2 (inorganic pyrophosphatase 2) on Chromosome 4. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Sudden cardiac failure, infantile | ACTCATAAAAGCAGAGAGTGGAATTATAGTTACAGAGGCTAAGGGTAGGGGGAATAGGGAAATGATAGTCAAAGGATACAAAATCTCAGACATGAAGAATAAGATGTTTTATTGTTGAGACAACACAACTTGATGAGTATAGTTAATAACGTACATTTCAAAATTGCTAAGAGTAAATTTCAAATGTTCTCACCACAAAAAATGGTAAGTATTTGATGTGACAGATATATTATTTAGCTTAAGTTATTCCATACTGTATTCATAAGTCATAATGTCACTTTGTACCCTATAAATATATACGATTATAACTTGTCAATATA... | ACTCATAAAAGCAGAGAGTGGAATTATAGTTACAGAGGCTAAGGGTAGGGGGAATAGGGAAATGATAGTCAAAGGATACAAAATCTCAGACATGAAGAATAAGATGTTTTATTGTTGAGACAACACAACTTGATGAGTATAGTTAATAACGTACATTTCAAAATTGCTAAGAGTAAATTTCAAATGTTCTCACCACAAAAAATGGTAAGTATTTGATGTGACAGATATATTATTTAGCTTAAGTTATTCCATACTGTATTCATAAGTCATAATGTCACTTTGTACCCTATAAATATATACGATTATAACTTGTCAATATA... |
Task1_train_8708 | This alteration in TBCK (TBC1 domain containing kinase) on Chromosome 4 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 | AGATCATCCATTAAACATAAAAATGAGGGCTGGCAGTAGGTTTCTTATTTTTCTTGAGAGTAATTAATAAAGACATAATCTTAAGGGACCTTCCTTTTGTTTTTTATTTGGTTTTCAGGCAAATTTGATTCTGGGATAATTTTAAGTGTGTTTATTATCAGCAGTAACTTGGGCCTGCCTGAAAATATGGAGAACAGCACAAGGGATGCTGTCAATAAAGTACTGTGAAGTTTTTTCACCTAAAAAAACTGAAGTTTCTGCAAAAATATAGATTTAGTTACATCCTAGGTAACGACATTAATTTCATCTTTTTACCCATA... | AGATCATCCATTAAACATAAAAATGAGGGCTGGCAGTAGGTTTCTTATTTTTCTTGAGAGTAATTAATAAAGACATAATCTTAAGGGACCTTCCTTTTGTTTTTTATTTGGTTTTCAGGCAAATTTGATTCTGGGATAATTTTAAGTGTGTTTATTATCAGCAGTAACTTGGGCCTGCCTGAAAATATGGAGAACAGCACAAGGGATGCTGTCAATAAAGTACTGTGAAGTTTTTTCACCTAAAAAAACTGAAGTTTCTGCAAAAATATAGATTTAGTTACATCCTAGGTAACGACATTAATTTCATCTTTTTACCCATA... |
Task1_train_8709 | This variant affects the gene TBCK (TBC1 domain containing kinase) found on Chromosome 4. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 | ATCATCCATTAAACATAAAAATGAGGGCTGGCAGTAGGTTTCTTATTTTTCTTGAGAGTAATTAATAAAGACATAATCTTAAGGGACCTTCCTTTTGTTTTTTATTTGGTTTTCAGGCAAATTTGATTCTGGGATAATTTTAAGTGTGTTTATTATCAGCAGTAACTTGGGCCTGCCTGAAAATATGGAGAACAGCACAAGGGATGCTGTCAATAAAGTACTGTGAAGTTTTTTCACCTAAAAAAACTGAAGTTTCTGCAAAAATATAGATTTAGTTACATCCTAGGTAACGACATTAATTTCATCTTTTTACCCATAGC... | ATCATCCATTAAACATAAAAATGAGGGCTGGCAGTAGGTTTCTTATTTTTCTTGAGAGTAATTAATAAAGACATAATCTTAAGGGACCTTCCTTTTGTTTTTTATTTGGTTTTCAGGCAAATTTGATTCTGGGATAATTTTAAGTGTGTTTATTATCAGCAGTAACTTGGGCCTGCCTGAAAATATGGAGAACAGCACAAGGGATGCTGTCAATAAAGTACTGTGAAGTTTTTTCACCTAAAAAAACTGAAGTTTCTGCAAAAATATAGATTTAGTTACATCCTAGGTAACGACATTAATTTCATCTTTTTACCCATAGC... |
Task1_train_8710 | A variant was discovered in gene CYP2U1-AS1, SGMS2 (CYP2U1 and SGMS2 antisense RNA 1| sphingomyelin synthase 2), Chromosome 4. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Calvarial doughnut lesions with bone fragility and spondylometaphyseal dysplasia | TTAGCTAGTCTCATGCTCCCTTATCCCCCATTTCTCTACCAGGCCAGCTTTCCACATGCTTTTGCTTTCTCAGAAACAGAGCCTGTGTGTGGACACATCTTGTCCCTGGAGCAGGGAAACAGTACAGCTAAACCTCTCACTTTACCTAGTGATCAGCTCATCCCTCTCCTTCCTTTCACAATATGCCATTCAGTCTTCTCCAGTAGTCTTTCATCATTTTAGTCCTGTCTCTTTGGTTAGACTGCAAGCTCTTTGGCTGAATGTTCAGGTCAGGTGTTTTTCACTCCTTTTAATTTGCCCTACATAGCCTTCAGCACTGG... | TTAGCTAGTCTCATGCTCCCTTATCCCCCATTTCTCTACCAGGCCAGCTTTCCACATGCTTTTGCTTTCTCAGAAACAGAGCCTGTGTGTGGACACATCTTGTCCCTGGAGCAGGGAAACAGTACAGCTAAACCTCTCACTTTACCTAGTGATCAGCTCATCCCTCTCCTTCCTTTCACAATATGCCATTCAGTCTTCTCCAGTAGTCTTTCATCATTTTAGTCCTGTCTCTTTGGTTAGACTGCAAGCTCTTTGGCTGAATGTTCAGGTCAGGTGTTTTTCACTCCTTTTAATTTGCCCTACATAGCCTTCAGCACTGG... |
Task1_train_8711 | Gene CYP2U1-AS1, SGMS2 (CYP2U1 and SGMS2 antisense RNA 1| sphingomyelin synthase 2) on Chromosome 4 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Calvarial doughnut lesions with bone fragility and spondylometaphyseal dysplasia | AGTCTCATGCTCCCTTATCCCCCATTTCTCTACCAGGCCAGCTTTCCACATGCTTTTGCTTTCTCAGAAACAGAGCCTGTGTGTGGACACATCTTGTCCCTGGAGCAGGGAAACAGTACAGCTAAACCTCTCACTTTACCTAGTGATCAGCTCATCCCTCTCCTTCCTTTCACAATATGCCATTCAGTCTTCTCCAGTAGTCTTTCATCATTTTAGTCCTGTCTCTTTGGTTAGACTGCAAGCTCTTTGGCTGAATGTTCAGGTCAGGTGTTTTTCACTCCTTTTAATTTGCCCTACATAGCCTTCAGCACTGGGGCATT... | AGTCTCATGCTCCCTTATCCCCCATTTCTCTACCAGGCCAGCTTTCCACATGCTTTTGCTTTCTCAGAAACAGAGCCTGTGTGTGGACACATCTTGTCCCTGGAGCAGGGAAACAGTACAGCTAAACCTCTCACTTTACCTAGTGATCAGCTCATCCCTCTCCTTCCTTTCACAATATGCCATTCAGTCTTCTCCAGTAGTCTTTCATCATTTTAGTCCTGTCTCTTTGGTTAGACTGCAAGCTCTTTGGCTGAATGTTCAGGTCAGGTGTTTTTCACTCCTTTTAATTTGCCCTACATAGCCTTCAGCACTGGGGCATT... |
Task1_train_8712 | Located on Chromosome 4, this mutation impacts CYP2U1, CYP2U1-AS1 (cytochrome P450 family 2 subfamily U member 1| CYP2U1 and SGMS2 antisense RNA 1). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Hereditary spastic paraplegia 56 | AGTCAAAACTCAAGGTGTCAGCAGGGTTGATTTCTTCTGAGACCTCTCTCCTGACTTGTAGATGGCTGCCTTCTGACTGTGTCCTCACATCCTCTTTCCTCTCTGTGTCCTTATCTCCTCTTCAGACACCAGTCATATTGGTAAGAGCCCATCCACAGGACTCCATTTTAGCTTAATTACCTCTTTAAAGGCCCTTTCTCCAAATACAGTCTTATTCTGAGGCACTGGGGGTTAGGACTTCAACATATAGTGGTGAGGAGAGGCTGAATTCAGCCCAGATTTCCTATCTGCCCCGCACAGCTATTAACCTAGTGAAAATG... | AGTCAAAACTCAAGGTGTCAGCAGGGTTGATTTCTTCTGAGACCTCTCTCCTGACTTGTAGATGGCTGCCTTCTGACTGTGTCCTCACATCCTCTTTCCTCTCTGTGTCCTTATCTCCTCTTCAGACACCAGTCATATTGGTAAGAGCCCATCCACAGGACTCCATTTTAGCTTAATTACCTCTTTAAAGGCCCTTTCTCCAAATACAGTCTTATTCTGAGGCACTGGGGGTTAGGACTTCAACATATAGTGGTGAGGAGAGGCTGAATTCAGCCCAGATTTCCTATCTGCCCCGCACAGCTATTAACCTAGTGAAAATG... |
Task1_train_8713 | A genetic alteration is present in CYP2U1 (cytochrome P450 family 2 subfamily U member 1) on Chromosome 4. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Intellectual disability | ATTGCACAGTAGATAAATGCAAATTACAGAATAGGAAATCTGGCCAATAACCGTATAAAAAGCTGCTCTGACCCACTGGTAACAATCAGAGAAATGCAAATAAAAATCGATGAGATACGTTTCAGCCTTCTGATTGACAAAACTAAAACATTGACAAGTATCAAGTGATGGCAACTATTCTGAACAAATGAGAACATTTAAACACTTCTGTGAACACGCTTTCAGAGTACTCTCCAATTCAGAGAGTAAACTGCAATGTCTAGTCATACTGAATATGTACATATCTTATGACTTATCAGTCAGTCCAGTCTTAGCAATGT... | ATTGCACAGTAGATAAATGCAAATTACAGAATAGGAAATCTGGCCAATAACCGTATAAAAAGCTGCTCTGACCCACTGGTAACAATCAGAGAAATGCAAATAAAAATCGATGAGATACGTTTCAGCCTTCTGATTGACAAAACTAAAACATTGACAAGTATCAAGTGATGGCAACTATTCTGAACAAATGAGAACATTTAAACACTTCTGTGAACACGCTTTCAGAGTACTCTCCAATTCAGAGAGTAAACTGCAATGTCTAGTCATACTGAATATGTACATATCTTATGACTTATCAGTCAGTCCAGTCTTAGCAATGT... |
Task1_train_8714 | A variant was discovered on Chromosome 4, affecting CYP2U1 (cytochrome P450 family 2 subfamily U member 1). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Lower limb spasticity | ATTGCACAGTAGATAAATGCAAATTACAGAATAGGAAATCTGGCCAATAACCGTATAAAAAGCTGCTCTGACCCACTGGTAACAATCAGAGAAATGCAAATAAAAATCGATGAGATACGTTTCAGCCTTCTGATTGACAAAACTAAAACATTGACAAGTATCAAGTGATGGCAACTATTCTGAACAAATGAGAACATTTAAACACTTCTGTGAACACGCTTTCAGAGTACTCTCCAATTCAGAGAGTAAACTGCAATGTCTAGTCATACTGAATATGTACATATCTTATGACTTATCAGTCAGTCCAGTCTTAGCAATGT... | ATTGCACAGTAGATAAATGCAAATTACAGAATAGGAAATCTGGCCAATAACCGTATAAAAAGCTGCTCTGACCCACTGGTAACAATCAGAGAAATGCAAATAAAAATCGATGAGATACGTTTCAGCCTTCTGATTGACAAAACTAAAACATTGACAAGTATCAAGTGATGGCAACTATTCTGAACAAATGAGAACATTTAAACACTTCTGTGAACACGCTTTCAGAGTACTCTCCAATTCAGAGAGTAAACTGCAATGTCTAGTCATACTGAATATGTACATATCTTATGACTTATCAGTCAGTCCAGTCTTAGCAATGT... |
Task1_train_8715 | A variant affecting Chromosome 4, within the gene CYP2U1 (cytochrome P450 family 2 subfamily U member 1), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Seizure | ATTGCACAGTAGATAAATGCAAATTACAGAATAGGAAATCTGGCCAATAACCGTATAAAAAGCTGCTCTGACCCACTGGTAACAATCAGAGAAATGCAAATAAAAATCGATGAGATACGTTTCAGCCTTCTGATTGACAAAACTAAAACATTGACAAGTATCAAGTGATGGCAACTATTCTGAACAAATGAGAACATTTAAACACTTCTGTGAACACGCTTTCAGAGTACTCTCCAATTCAGAGAGTAAACTGCAATGTCTAGTCATACTGAATATGTACATATCTTATGACTTATCAGTCAGTCCAGTCTTAGCAATGT... | ATTGCACAGTAGATAAATGCAAATTACAGAATAGGAAATCTGGCCAATAACCGTATAAAAAGCTGCTCTGACCCACTGGTAACAATCAGAGAAATGCAAATAAAAATCGATGAGATACGTTTCAGCCTTCTGATTGACAAAACTAAAACATTGACAAGTATCAAGTGATGGCAACTATTCTGAACAAATGAGAACATTTAAACACTTCTGTGAACACGCTTTCAGAGTACTCTCCAATTCAGAGAGTAAACTGCAATGTCTAGTCATACTGAATATGTACATATCTTATGACTTATCAGTCAGTCCAGTCTTAGCAATGT... |
Task1_train_8716 | Chromosome 4 houses a mutation in gene CYP2U1 (cytochrome P450 family 2 subfamily U member 1). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Hereditary spastic paraplegia 56 | AAGACAAATTGAAAAGGATATAACCAGTTTCCTTAAAAAAATCATCAAAGACCATCAAGAGTCTCTGGATAGAGAGAACCCTCAGGACTTCATAGACATGTACCTTCTCCACATGGAAGAGGAGAGGAAAAATAATAGTAACAGCAGTTTTGATGAAGAGTACTTATTTTATATCATTGGGGATCTCTTTATTGCTGGGACTGATACCACAACTAACTCTTTGCTCTGGTGCCTGCTGTATATGTCGCTGAACCCCGATGTACAAGGTAATTAATAGGTGTTTCCTTTGTTCATGGCAAAACCAGGTAATTTAAATGAGG... | AAGACAAATTGAAAAGGATATAACCAGTTTCCTTAAAAAAATCATCAAAGACCATCAAGAGTCTCTGGATAGAGAGAACCCTCAGGACTTCATAGACATGTACCTTCTCCACATGGAAGAGGAGAGGAAAAATAATAGTAACAGCAGTTTTGATGAAGAGTACTTATTTTATATCATTGGGGATCTCTTTATTGCTGGGACTGATACCACAACTAACTCTTTGCTCTGGTGCCTGCTGTATATGTCGCTGAACCCCGATGTACAAGGTAATTAATAGGTGTTTCCTTTGTTCATGGCAAAACCAGGTAATTTAAATGAGG... |
Task1_train_8717 | The following genetic variant occurs in CYP2U1 (cytochrome P450 family 2 subfamily U member 1) on Chromosome 4. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Hereditary spastic paraplegia 56 | CATTGGCGCCAACCGAGCTCCTTCCCTCACAGACAAGGCCCAGATGCCCTACACAGAAGCCACCATCATGGAAGTGCAGAGGCTAACTGTGGTGGTGCCGCTTGCCATTCCTCATATGACCTCAGAGAACACAGGCAAGTCCAGGGTCTTCCTCTTTGAATGCCCTTGACGGAAGCAGGGCCCTCTAATCCAGGGTAGTTGAGGTGAGGGGTGTGGTGACTGTTGTCTAGCTTGATCCTTCTGAAGATTTAGCATTGTGTCATATGTAATAAAATGTCTAGGGAATGTTCAGCCCTCCGCTGTGCATCACTGGTTGTACT... | CATTGGCGCCAACCGAGCTCCTTCCCTCACAGACAAGGCCCAGATGCCCTACACAGAAGCCACCATCATGGAAGTGCAGAGGCTAACTGTGGTGGTGCCGCTTGCCATTCCTCATATGACCTCAGAGAACACAGGCAAGTCCAGGGTCTTCCTCTTTGAATGCCCTTGACGGAAGCAGGGCCCTCTAATCCAGGGTAGTTGAGGTGAGGGGTGTGGTGACTGTTGTCTAGCTTGATCCTTCTGAAGATTTAGCATTGTGTCATATGTAATAAAATGTCTAGGGAATGTTCAGCCCTCCGCTGTGCATCACTGGTTGTACT... |
Task1_train_8718 | A variant was discovered on Chromosome 4, affecting CYP2U1 (cytochrome P450 family 2 subfamily U member 1). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Hereditary spastic paraplegia 56 | CTGAGATTGCACCACTGCACTCTAGCCTGGGTGATGGAGCAAGCCTCTGTCTCAAAAAAAAAAAAAAAAAAAGGGCTGGGTGCGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCCAGGAGGATGGATCACTTGAGGCCAGGAGTTCGAGACCAGCCTAGCCAACATGGCGAAAACCCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCACACTTCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAAGAATCACTTGAACCCGGGAGGCAGAGGTTGCGGTGAGCCAAGATTGCACCAC... | CTGAGATTGCACCACTGCACTCTAGCCTGGGTGATGGAGCAAGCCTCTGTCTCAAAAAAAAAAAAAAAAAAAGGGCTGGGTGCGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCCAGGAGGATGGATCACTTGAGGCCAGGAGTTCGAGACCAGCCTAGCCAACATGGCGAAAACCCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCACACTTCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAAGAATCACTTGAACCCGGGAGGCAGAGGTTGCGGTGAGCCAAGATTGCACCAC... |
Task1_train_8719 | Here is a mutation in HADH (hydroxyacyl-CoA dehydrogenase) on Chromosome 4. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Hyperinsulinemic hypoglycemia, familial, 4 | AAGATAGTAAGGGGTGGCAAGAGTCTTGTCCTAGTGTCCTGGCCTTTTCTTTAGTGCAGGGAGTTGCTTTTTTTATATATGCAGGGAGGAGAAGAGGCTGTCAGAAGTATGACACCTGAGCAGAGGCCTGGAGGAAGTGAGAGACTGAGCTCCGAAGCTGTCTGAGGGCAGCACCTAGGCACAGGGAGCATATCCCAAGCCTGAGGAGCCTGTGAGGCCGGCACTTCCAGCATTCCAGGGCTCTACCAGCACAGAAGCTGCGGGGCTTCCTAATGAAATCCTCTGAGTAGAACCCACTTTTAAGCTTCATAGCCACACCC... | AAGATAGTAAGGGGTGGCAAGAGTCTTGTCCTAGTGTCCTGGCCTTTTCTTTAGTGCAGGGAGTTGCTTTTTTTATATATGCAGGGAGGAGAAGAGGCTGTCAGAAGTATGACACCTGAGCAGAGGCCTGGAGGAAGTGAGAGACTGAGCTCCGAAGCTGTCTGAGGGCAGCACCTAGGCACAGGGAGCATATCCCAAGCCTGAGGAGCCTGTGAGGCCGGCACTTCCAGCATTCCAGGGCTCTACCAGCACAGAAGCTGCGGGGCTTCCTAATGAAATCCTCTGAGTAGAACCCACTTTTAAGCTTCATAGCCACACCC... |
Task1_train_8720 | Here is a variant affecting COL25A1 (collagen type XXV alpha 1 chain) on Chromosome 4. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Fibrosis of extraocular muscles, congenital, 5 | AGCTTTTACCTTGCAAATTGAGCCATTTTCTTCCTTTTTATGAAGAGATTTGGGGCAAAGGGAAAAAGAGCCAACAATTGTTTTTCCTCTGAGAAGAAAAGTGTAGATAGTTGGGACAGGAAAGGAGTAGAGAGCTCATTCTAGGGAGAATTAGGAAAGGAAGGTCACAGGCTAGGCCTCCCTCTGATGATGGGGATCTAAGGAAAAGTTCATCTGTAGGTATAGGCATTTTAACACTCAGTGCTGAAGTGGACAGCAGCCAGCTGGAACAGGTTGGCAGCGCTGAAGGTCAGGGGCAGGGCAAACCCAGCTCTCTCTCT... | AGCTTTTACCTTGCAAATTGAGCCATTTTCTTCCTTTTTATGAAGAGATTTGGGGCAAAGGGAAAAAGAGCCAACAATTGTTTTTCCTCTGAGAAGAAAAGTGTAGATAGTTGGGACAGGAAAGGAGTAGAGAGCTCATTCTAGGGAGAATTAGGAAAGGAAGGTCACAGGCTAGGCCTCCCTCTGATGATGGGGATCTAAGGAAAAGTTCATCTGTAGGTATAGGCATTTTAACACTCAGTGCTGAAGTGGACAGCAGCCAGCTGGAACAGGTTGGCAGCGCTGAAGGTCAGGGGCAGGGCAAACCCAGCTCTCTCTCT... |
Task1_train_8721 | A variant affecting Chromosome 4, within the gene CFI (complement factor I), has been observed. Determine if it's benign or associated with disease. | Pathogenic; not provided | TCTTCCCTTCTTTCTTTTTAAAACAGAGACAGGGTCTCACTCTTTTGCCTAAGCTGGAGTACAGTGGTGTGAACATAGCTCACTGCAGCCTTGACTCCTGAGCTCAGGAGACACTCCCACCTCAGCCTCCCTAGTAACTAGAACTACAGGCATGTGCCACCACATTAAGCTAATTTAAAAAAATTTTTTTGTAGAAATGGGGTCTTGCTATGTTCCCCAGGCTGGTCTCAAACCTACCAAAGTGCTGGGATTATAGGCGTGAGCCACCGCACCTGGCCTCTTATCAATTTTCAACTCATAGTTTCAAGCAAATCAGGCAT... | TCTTCCCTTCTTTCTTTTTAAAACAGAGACAGGGTCTCACTCTTTTGCCTAAGCTGGAGTACAGTGGTGTGAACATAGCTCACTGCAGCCTTGACTCCTGAGCTCAGGAGACACTCCCACCTCAGCCTCCCTAGTAACTAGAACTACAGGCATGTGCCACCACATTAAGCTAATTTAAAAAAATTTTTTTGTAGAAATGGGGTCTTGCTATGTTCCCCAGGCTGGTCTCAAACCTACCAAAGTGCTGGGATTATAGGCGTGAGCCACCGCACCTGGCCTCTTATCAATTTTCAACTCATAGTTTCAAGCAAATCAGGCAT... |
Task1_train_8722 | Gene CFI (complement factor I) on Chromosome 4 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Factor I deficiency | AAGGAAAAAATGAAGCATTATTCTGCCTCTCTATAGATTTCTAGTTAATAAGTGCAATAGGCATGATAAAATTAGAAATTGCCATTTTACAGCCCTATTGACAAAATGGACATAGGCAACAATTTAAAAGGCTGCTAAAACCATTAGGCAAAAGATTGTGGGGCACTTTGAAATGGACACACCAAGCTGATCAAGTAATCATCTTAGCATCACTAGAGGAGGGACAACCAGACAAGAAGACATTATGTGTAACAGGAAATACATGCAAGACTCATCAAGAATTCTTGCCTAAGGCCGGGCACAGTGGCTCATGCCTGTAA... | AAGGAAAAAATGAAGCATTATTCTGCCTCTCTATAGATTTCTAGTTAATAAGTGCAATAGGCATGATAAAATTAGAAATTGCCATTTTACAGCCCTATTGACAAAATGGACATAGGCAACAATTTAAAAGGCTGCTAAAACCATTAGGCAAAAGATTGTGGGGCACTTTGAAATGGACACACCAAGCTGATCAAGTAATCATCTTAGCATCACTAGAGGAGGGACAACCAGACAAGAAGACATTATGTGTAACAGGAAATACATGCAAGACTCATCAAGAATTCTTGCCTAAGGCCGGGCACAGTGGCTCATGCCTGTAA... |
Task1_train_8723 | Gene CFI (complement factor I), found on Chromosome 4, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; not provided | AAGGAAACACTAAACTTTCCTAAAATAAAAAAACAAAATAATGTGCAATATGTAGCCATTCACTTTTTTCTCTTAATTAAAAGTCTTTAAAAATAATAATGTACTTAATGTCAAGTGAGCTTTGAACATCATGACGATTTTAACAAGTAATAGTAAGCAATCATTTTACGAGTATTTATTATGTGTCAGCGGCAGTGCTATTCAGCTGTATAGAGGATCATTAAATACTCACATCAACCCTATGAGGATAAAGCCTATTTATTCCCATTTTTACACAAGGAACCTCTAGGGGAAGTTAAGTTCCTGGCCCAAGTGATGAA... | AAGGAAACACTAAACTTTCCTAAAATAAAAAAACAAAATAATGTGCAATATGTAGCCATTCACTTTTTTCTCTTAATTAAAAGTCTTTAAAAATAATAATGTACTTAATGTCAAGTGAGCTTTGAACATCATGACGATTTTAACAAGTAATAGTAAGCAATCATTTTACGAGTATTTATTATGTGTCAGCGGCAGTGCTATTCAGCTGTATAGAGGATCATTAAATACTCACATCAACCCTATGAGGATAAAGCCTATTTATTCCCATTTTTACACAAGGAACCTCTAGGGGAAGTTAAGTTCCTGGCCCAAGTGATGAA... |
Task1_train_8724 | A variant has been detected on Chromosome 4 in EGF (epidermal growth factor). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Renal hypomagnesemia 4 | CAAAAACAAAACAAAACAAAAAAGACTAATGTTTGTGAAACTAAATAAATTTTTCAAGTATTCTAATCTTATTAGTTTAAAACATGTGATTTCTTGGAAGGACTCCCTTGTAAGAAAATCAACAGGAAGTATTTCATCACAAAGTATAACTTTGTTTTTTTGTGGGTTTTTTTTTAACTTTTATTTTAGGTTCAGGGGTATATGTAAAGGTTTGTTACACAGGTAAACTTGTGTCACTGGGGTTTGTTGTACAGATTATTTCATCACCCAGGTATTAAGCCCAGTACCCAACGGTTATGTTTTCTGCTCCTGTTCCTCCT... | CAAAAACAAAACAAAACAAAAAAGACTAATGTTTGTGAAACTAAATAAATTTTTCAAGTATTCTAATCTTATTAGTTTAAAACATGTGATTTCTTGGAAGGACTCCCTTGTAAGAAAATCAACAGGAAGTATTTCATCACAAAGTATAACTTTGTTTTTTTGTGGGTTTTTTTTTAACTTTTATTTTAGGTTCAGGGGTATATGTAAAGGTTTGTTACACAGGTAAACTTGTGTCACTGGGGTTTGTTGTACAGATTATTTCATCACCCAGGTATTAAGCCCAGTACCCAACGGTTATGTTTTCTGCTCCTGTTCCTCCT... |
Task1_train_8725 | Consider a variant on Chromosome 4 in gene PITX2 (paired like homeodomain 2). Determine its clinical classification and disease relevance. | Pathogenic; Axenfeld-Rieger syndrome type 1 | ATTGTCCTGCAGTTTGCAAACTATAATCCTGTATAATTTCAGGAACAAGCAGGTTTAGAATTAATGGGTCAATATTATTTAAAACAAAACACCGGGAGCATGACCTTTGCCTCAACTACATATTGCTCGACAAGACTCAGGAAACTCCACTCTAACCTCTCAACCCCTGAGTTCTTTGAGAAACTGAAGGGCTGTAGTTATTAGAAATCATCTTTGTTTCTTTTAATGTCTCCAAAGGATTTGGAAATAGTAATGCAATATAACATGAAGGATCTCTCTACTTAAGCCTGAAGATAAACGTGGAAGCCTAAATATTTTGA... | ATTGTCCTGCAGTTTGCAAACTATAATCCTGTATAATTTCAGGAACAAGCAGGTTTAGAATTAATGGGTCAATATTATTTAAAACAAAACACCGGGAGCATGACCTTTGCCTCAACTACATATTGCTCGACAAGACTCAGGAAACTCCACTCTAACCTCTCAACCCCTGAGTTCTTTGAGAAACTGAAGGGCTGTAGTTATTAGAAATCATCTTTGTTTCTTTTAATGTCTCCAAAGGATTTGGAAATAGTAATGCAATATAACATGAAGGATCTCTCTACTTAAGCCTGAAGATAAACGTGGAAGCCTAAATATTTTGA... |
Task1_train_8726 | Consider a variant on Chromosome 4 in gene PITX2 (paired like homeodomain 2). Determine its clinical classification and disease relevance. | Pathogenic; Axenfeld-Rieger syndrome type 1 | TGCAGTTTGCAAACTATAATCCTGTATAATTTCAGGAACAAGCAGGTTTAGAATTAATGGGTCAATATTATTTAAAACAAAACACCGGGAGCATGACCTTTGCCTCAACTACATATTGCTCGACAAGACTCAGGAAACTCCACTCTAACCTCTCAACCCCTGAGTTCTTTGAGAAACTGAAGGGCTGTAGTTATTAGAAATCATCTTTGTTTCTTTTAATGTCTCCAAAGGATTTGGAAATAGTAATGCAATATAACATGAAGGATCTCTCTACTTAAGCCTGAAGATAAACGTGGAAGCCTAAATATTTTGAACTGGAG... | TGCAGTTTGCAAACTATAATCCTGTATAATTTCAGGAACAAGCAGGTTTAGAATTAATGGGTCAATATTATTTAAAACAAAACACCGGGAGCATGACCTTTGCCTCAACTACATATTGCTCGACAAGACTCAGGAAACTCCACTCTAACCTCTCAACCCCTGAGTTCTTTGAGAAACTGAAGGGCTGTAGTTATTAGAAATCATCTTTGTTTCTTTTAATGTCTCCAAAGGATTTGGAAATAGTAATGCAATATAACATGAAGGATCTCTCTACTTAAGCCTGAAGATAAACGTGGAAGCCTAAATATTTTGAACTGGAG... |
Task1_train_8727 | Given a variant located on Chromosome 4 and affecting PITX2 (paired like homeodomain 2), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Axenfeld-Rieger syndrome type 1 | GTTTGCAAACTATAATCCTGTATAATTTCAGGAACAAGCAGGTTTAGAATTAATGGGTCAATATTATTTAAAACAAAACACCGGGAGCATGACCTTTGCCTCAACTACATATTGCTCGACAAGACTCAGGAAACTCCACTCTAACCTCTCAACCCCTGAGTTCTTTGAGAAACTGAAGGGCTGTAGTTATTAGAAATCATCTTTGTTTCTTTTAATGTCTCCAAAGGATTTGGAAATAGTAATGCAATATAACATGAAGGATCTCTCTACTTAAGCCTGAAGATAAACGTGGAAGCCTAAATATTTTGAACTGGAGATGT... | GTTTGCAAACTATAATCCTGTATAATTTCAGGAACAAGCAGGTTTAGAATTAATGGGTCAATATTATTTAAAACAAAACACCGGGAGCATGACCTTTGCCTCAACTACATATTGCTCGACAAGACTCAGGAAACTCCACTCTAACCTCTCAACCCCTGAGTTCTTTGAGAAACTGAAGGGCTGTAGTTATTAGAAATCATCTTTGTTTCTTTTAATGTCTCCAAAGGATTTGGAAATAGTAATGCAATATAACATGAAGGATCTCTCTACTTAAGCCTGAAGATAAACGTGGAAGCCTAAATATTTTGAACTGGAGATGT... |
Task1_train_8728 | Given this context: Chromosome 4, gene PITX2 (paired like homeodomain 2) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Axenfeld-Rieger syndrome type 1 | TTTGCAAACTATAATCCTGTATAATTTCAGGAACAAGCAGGTTTAGAATTAATGGGTCAATATTATTTAAAACAAAACACCGGGAGCATGACCTTTGCCTCAACTACATATTGCTCGACAAGACTCAGGAAACTCCACTCTAACCTCTCAACCCCTGAGTTCTTTGAGAAACTGAAGGGCTGTAGTTATTAGAAATCATCTTTGTTTCTTTTAATGTCTCCAAAGGATTTGGAAATAGTAATGCAATATAACATGAAGGATCTCTCTACTTAAGCCTGAAGATAAACGTGGAAGCCTAAATATTTTGAACTGGAGATGTT... | TTTGCAAACTATAATCCTGTATAATTTCAGGAACAAGCAGGTTTAGAATTAATGGGTCAATATTATTTAAAACAAAACACCGGGAGCATGACCTTTGCCTCAACTACATATTGCTCGACAAGACTCAGGAAACTCCACTCTAACCTCTCAACCCCTGAGTTCTTTGAGAAACTGAAGGGCTGTAGTTATTAGAAATCATCTTTGTTTCTTTTAATGTCTCCAAAGGATTTGGAAATAGTAATGCAATATAACATGAAGGATCTCTCTACTTAAGCCTGAAGATAAACGTGGAAGCCTAAATATTTTGAACTGGAGATGTT... |
Task1_train_8729 | Mutation context: Chromosome 4, Gene PITX2 (paired like homeodomain 2). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Anterior segment dysgenesis 4 | TTTGCAAACTATAATCCTGTATAATTTCAGGAACAAGCAGGTTTAGAATTAATGGGTCAATATTATTTAAAACAAAACACCGGGAGCATGACCTTTGCCTCAACTACATATTGCTCGACAAGACTCAGGAAACTCCACTCTAACCTCTCAACCCCTGAGTTCTTTGAGAAACTGAAGGGCTGTAGTTATTAGAAATCATCTTTGTTTCTTTTAATGTCTCCAAAGGATTTGGAAATAGTAATGCAATATAACATGAAGGATCTCTCTACTTAAGCCTGAAGATAAACGTGGAAGCCTAAATATTTTGAACTGGAGATGTT... | TTTGCAAACTATAATCCTGTATAATTTCAGGAACAAGCAGGTTTAGAATTAATGGGTCAATATTATTTAAAACAAAACACCGGGAGCATGACCTTTGCCTCAACTACATATTGCTCGACAAGACTCAGGAAACTCCACTCTAACCTCTCAACCCCTGAGTTCTTTGAGAAACTGAAGGGCTGTAGTTATTAGAAATCATCTTTGTTTCTTTTAATGTCTCCAAAGGATTTGGAAATAGTAATGCAATATAACATGAAGGATCTCTCTACTTAAGCCTGAAGATAAACGTGGAAGCCTAAATATTTTGAACTGGAGATGTT... |
Task1_train_8730 | This variant affects gene PITX2 (paired like homeodomain 2) located on Chromosome 4. Evaluate its biological effect and specify any disease association. | Pathogenic; Axenfeld-Rieger syndrome type 1 | TTTGCAAACTATAATCCTGTATAATTTCAGGAACAAGCAGGTTTAGAATTAATGGGTCAATATTATTTAAAACAAAACACCGGGAGCATGACCTTTGCCTCAACTACATATTGCTCGACAAGACTCAGGAAACTCCACTCTAACCTCTCAACCCCTGAGTTCTTTGAGAAACTGAAGGGCTGTAGTTATTAGAAATCATCTTTGTTTCTTTTAATGTCTCCAAAGGATTTGGAAATAGTAATGCAATATAACATGAAGGATCTCTCTACTTAAGCCTGAAGATAAACGTGGAAGCCTAAATATTTTGAACTGGAGATGTT... | TTTGCAAACTATAATCCTGTATAATTTCAGGAACAAGCAGGTTTAGAATTAATGGGTCAATATTATTTAAAACAAAACACCGGGAGCATGACCTTTGCCTCAACTACATATTGCTCGACAAGACTCAGGAAACTCCACTCTAACCTCTCAACCCCTGAGTTCTTTGAGAAACTGAAGGGCTGTAGTTATTAGAAATCATCTTTGTTTCTTTTAATGTCTCCAAAGGATTTGGAAATAGTAATGCAATATAACATGAAGGATCTCTCTACTTAAGCCTGAAGATAAACGTGGAAGCCTAAATATTTTGAACTGGAGATGTT... |
Task1_train_8731 | Given this context: Chromosome 4, gene PITX2 (paired like homeodomain 2) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Anterior segment dysgenesis | GGGCTGGAAGGGCACTAGAGGATCGCTCTTTCTCCCACGCAATTCCTCCCTTCCTTCCCTGACCTCCACTGTCGTCCCCCACCCCCTGGTACGTGCTCCCTTAACAGGGACTAGGCCGCCAACACTCTTTCTCGCCTAGCAAAACAACCAAATAAAGAGCAAAAGACCACCTCTTCGTCAGCTCGTTAACTCCAGGAGCTTGGCATATTAAACTCCGGGAACCCGGAAAGGGTAGTTTTGGAGATTCCCCCTTCTTTCGCTCTGCCTCTTCTTTACCCTAAGCCCACCACAGGCCTGTCCGCGCGCCAGGCCCAGCCGGG... | GGGCTGGAAGGGCACTAGAGGATCGCTCTTTCTCCCACGCAATTCCTCCCTTCCTTCCCTGACCTCCACTGTCGTCCCCCACCCCCTGGTACGTGCTCCCTTAACAGGGACTAGGCCGCCAACACTCTTTCTCGCCTAGCAAAACAACCAAATAAAGAGCAAAAGACCACCTCTTCGTCAGCTCGTTAACTCCAGGAGCTTGGCATATTAAACTCCGGGAACCCGGAAAGGGTAGTTTTGGAGATTCCCCCTTCTTTCGCTCTGCCTCTTCTTTACCCTAAGCCCACCACAGGCCTGTCCGCGCGCCAGGCCCAGCCGGG... |
Task1_train_8732 | A change on Chromosome 4 affects gene PITX2 (paired like homeodomain 2). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Anterior segment dysgenesis 4 | GGGCTGGAAGGGCACTAGAGGATCGCTCTTTCTCCCACGCAATTCCTCCCTTCCTTCCCTGACCTCCACTGTCGTCCCCCACCCCCTGGTACGTGCTCCCTTAACAGGGACTAGGCCGCCAACACTCTTTCTCGCCTAGCAAAACAACCAAATAAAGAGCAAAAGACCACCTCTTCGTCAGCTCGTTAACTCCAGGAGCTTGGCATATTAAACTCCGGGAACCCGGAAAGGGTAGTTTTGGAGATTCCCCCTTCTTTCGCTCTGCCTCTTCTTTACCCTAAGCCCACCACAGGCCTGTCCGCGCGCCAGGCCCAGCCGGG... | GGGCTGGAAGGGCACTAGAGGATCGCTCTTTCTCCCACGCAATTCCTCCCTTCCTTCCCTGACCTCCACTGTCGTCCCCCACCCCCTGGTACGTGCTCCCTTAACAGGGACTAGGCCGCCAACACTCTTTCTCGCCTAGCAAAACAACCAAATAAAGAGCAAAAGACCACCTCTTCGTCAGCTCGTTAACTCCAGGAGCTTGGCATATTAAACTCCGGGAACCCGGAAAGGGTAGTTTTGGAGATTCCCCCTTCTTTCGCTCTGCCTCTTCTTTACCCTAAGCCCACCACAGGCCTGTCCGCGCGCCAGGCCCAGCCGGG... |
Task1_train_8733 | The gene PITX2 (paired like homeodomain 2), on Chromosome 4, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Axenfeld-Rieger syndrome type 1 | CTGGAAGGGCACTAGAGGATCGCTCTTTCTCCCACGCAATTCCTCCCTTCCTTCCCTGACCTCCACTGTCGTCCCCCACCCCCTGGTACGTGCTCCCTTAACAGGGACTAGGCCGCCAACACTCTTTCTCGCCTAGCAAAACAACCAAATAAAGAGCAAAAGACCACCTCTTCGTCAGCTCGTTAACTCCAGGAGCTTGGCATATTAAACTCCGGGAACCCGGAAAGGGTAGTTTTGGAGATTCCCCCTTCTTTCGCTCTGCCTCTTCTTTACCCTAAGCCCACCACAGGCCTGTCCGCGCGCCAGGCCCAGCCGGGTCG... | CTGGAAGGGCACTAGAGGATCGCTCTTTCTCCCACGCAATTCCTCCCTTCCTTCCCTGACCTCCACTGTCGTCCCCCACCCCCTGGTACGTGCTCCCTTAACAGGGACTAGGCCGCCAACACTCTTTCTCGCCTAGCAAAACAACCAAATAAAGAGCAAAAGACCACCTCTTCGTCAGCTCGTTAACTCCAGGAGCTTGGCATATTAAACTCCGGGAACCCGGAAAGGGTAGTTTTGGAGATTCCCCCTTCTTTCGCTCTGCCTCTTCTTTACCCTAAGCCCACCACAGGCCTGTCCGCGCGCCAGGCCCAGCCGGGTCG... |
Task1_train_8734 | A variant found in Chromosome 4 affects PITX2 (paired like homeodomain 2). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; not provided | CCTCCCTTCCTTCCCTGACCTCCACTGTCGTCCCCCACCCCCTGGTACGTGCTCCCTTAACAGGGACTAGGCCGCCAACACTCTTTCTCGCCTAGCAAAACAACCAAATAAAGAGCAAAAGACCACCTCTTCGTCAGCTCGTTAACTCCAGGAGCTTGGCATATTAAACTCCGGGAACCCGGAAAGGGTAGTTTTGGAGATTCCCCCTTCTTTCGCTCTGCCTCTTCTTTACCCTAAGCCCACCACAGGCCTGTCCGCGCGCCAGGCCCAGCCGGGTCGTTTGGCTTTGCAGGCGGCCACCCAGGCCGGCCGGCTTCCAC... | CCTCCCTTCCTTCCCTGACCTCCACTGTCGTCCCCCACCCCCTGGTACGTGCTCCCTTAACAGGGACTAGGCCGCCAACACTCTTTCTCGCCTAGCAAAACAACCAAATAAAGAGCAAAAGACCACCTCTTCGTCAGCTCGTTAACTCCAGGAGCTTGGCATATTAAACTCCGGGAACCCGGAAAGGGTAGTTTTGGAGATTCCCCCTTCTTTCGCTCTGCCTCTTCTTTACCCTAAGCCCACCACAGGCCTGTCCGCGCGCCAGGCCCAGCCGGGTCGTTTGGCTTTGCAGGCGGCCACCCAGGCCGGCCGGCTTCCAC... |
Task1_train_8735 | A change on Chromosome 4 affects gene PITX2 (paired like homeodomain 2). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Axenfeld-Rieger syndrome type 1 | CCTTCCTTCCCTGACCTCCACTGTCGTCCCCCACCCCCTGGTACGTGCTCCCTTAACAGGGACTAGGCCGCCAACACTCTTTCTCGCCTAGCAAAACAACCAAATAAAGAGCAAAAGACCACCTCTTCGTCAGCTCGTTAACTCCAGGAGCTTGGCATATTAAACTCCGGGAACCCGGAAAGGGTAGTTTTGGAGATTCCCCCTTCTTTCGCTCTGCCTCTTCTTTACCCTAAGCCCACCACAGGCCTGTCCGCGCGCCAGGCCCAGCCGGGTCGTTTGGCTTTGCAGGCGGCCACCCAGGCCGGCCGGCTTCCACCCGT... | CCTTCCTTCCCTGACCTCCACTGTCGTCCCCCACCCCCTGGTACGTGCTCCCTTAACAGGGACTAGGCCGCCAACACTCTTTCTCGCCTAGCAAAACAACCAAATAAAGAGCAAAAGACCACCTCTTCGTCAGCTCGTTAACTCCAGGAGCTTGGCATATTAAACTCCGGGAACCCGGAAAGGGTAGTTTTGGAGATTCCCCCTTCTTTCGCTCTGCCTCTTCTTTACCCTAAGCCCACCACAGGCCTGTCCGCGCGCCAGGCCCAGCCGGGTCGTTTGGCTTTGCAGGCGGCCACCCAGGCCGGCCGGCTTCCACCCGT... |
Task1_train_8736 | Here is a variant affecting PITX2 (paired like homeodomain 2) on Chromosome 4. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Axenfeld-Rieger syndrome type 1 | TGACCTCCACTGTCGTCCCCCACCCCCTGGTACGTGCTCCCTTAACAGGGACTAGGCCGCCAACACTCTTTCTCGCCTAGCAAAACAACCAAATAAAGAGCAAAAGACCACCTCTTCGTCAGCTCGTTAACTCCAGGAGCTTGGCATATTAAACTCCGGGAACCCGGAAAGGGTAGTTTTGGAGATTCCCCCTTCTTTCGCTCTGCCTCTTCTTTACCCTAAGCCCACCACAGGCCTGTCCGCGCGCCAGGCCCAGCCGGGTCGTTTGGCTTTGCAGGCGGCCACCCAGGCCGGCCGGCTTCCACCCGTGTCCGGTGGCC... | TGACCTCCACTGTCGTCCCCCACCCCCTGGTACGTGCTCCCTTAACAGGGACTAGGCCGCCAACACTCTTTCTCGCCTAGCAAAACAACCAAATAAAGAGCAAAAGACCACCTCTTCGTCAGCTCGTTAACTCCAGGAGCTTGGCATATTAAACTCCGGGAACCCGGAAAGGGTAGTTTTGGAGATTCCCCCTTCTTTCGCTCTGCCTCTTCTTTACCCTAAGCCCACCACAGGCCTGTCCGCGCGCCAGGCCCAGCCGGGTCGTTTGGCTTTGCAGGCGGCCACCCAGGCCGGCCGGCTTCCACCCGTGTCCGGTGGCC... |
Task1_train_8737 | Here is a mutation in PITX2 (paired like homeodomain 2) on Chromosome 4. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Axenfeld-Rieger syndrome type 1 | TGACCTCCACTGTCGTCCCCCACCCCCTGGTACGTGCTCCCTTAACAGGGACTAGGCCGCCAACACTCTTTCTCGCCTAGCAAAACAACCAAATAAAGAGCAAAAGACCACCTCTTCGTCAGCTCGTTAACTCCAGGAGCTTGGCATATTAAACTCCGGGAACCCGGAAAGGGTAGTTTTGGAGATTCCCCCTTCTTTCGCTCTGCCTCTTCTTTACCCTAAGCCCACCACAGGCCTGTCCGCGCGCCAGGCCCAGCCGGGTCGTTTGGCTTTGCAGGCGGCCACCCAGGCCGGCCGGCTTCCACCCGTGTCCGGTGGCC... | TGACCTCCACTGTCGTCCCCCACCCCCTGGTACGTGCTCCCTTAACAGGGACTAGGCCGCCAACACTCTTTCTCGCCTAGCAAAACAACCAAATAAAGAGCAAAAGACCACCTCTTCGTCAGCTCGTTAACTCCAGGAGCTTGGCATATTAAACTCCGGGAACCCGGAAAGGGTAGTTTTGGAGATTCCCCCTTCTTTCGCTCTGCCTCTTCTTTACCCTAAGCCCACCACAGGCCTGTCCGCGCGCCAGGCCCAGCCGGGTCGTTTGGCTTTGCAGGCGGCCACCCAGGCCGGCCGGCTTCCACCCGTGTCCGGTGGCC... |
Task1_train_8738 | An alteration has been detected in PITX2 (paired like homeodomain 2) on Chromosome 4. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Anterior segment dysgenesis 4 | TGACCTCCACTGTCGTCCCCCACCCCCTGGTACGTGCTCCCTTAACAGGGACTAGGCCGCCAACACTCTTTCTCGCCTAGCAAAACAACCAAATAAAGAGCAAAAGACCACCTCTTCGTCAGCTCGTTAACTCCAGGAGCTTGGCATATTAAACTCCGGGAACCCGGAAAGGGTAGTTTTGGAGATTCCCCCTTCTTTCGCTCTGCCTCTTCTTTACCCTAAGCCCACCACAGGCCTGTCCGCGCGCCAGGCCCAGCCGGGTCGTTTGGCTTTGCAGGCGGCCACCCAGGCCGGCCGGCTTCCACCCGTGTCCGGTGGCC... | TGACCTCCACTGTCGTCCCCCACCCCCTGGTACGTGCTCCCTTAACAGGGACTAGGCCGCCAACACTCTTTCTCGCCTAGCAAAACAACCAAATAAAGAGCAAAAGACCACCTCTTCGTCAGCTCGTTAACTCCAGGAGCTTGGCATATTAAACTCCGGGAACCCGGAAAGGGTAGTTTTGGAGATTCCCCCTTCTTTCGCTCTGCCTCTTCTTTACCCTAAGCCCACCACAGGCCTGTCCGCGCGCCAGGCCCAGCCGGGTCGTTTGGCTTTGCAGGCGGCCACCCAGGCCGGCCGGCTTCCACCCGTGTCCGGTGGCC... |
Task1_train_8739 | This alteration in PITX2 (paired like homeodomain 2) on Chromosome 4 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Axenfeld-Rieger syndrome type 1 | TACGTGCTCCCTTAACAGGGACTAGGCCGCCAACACTCTTTCTCGCCTAGCAAAACAACCAAATAAAGAGCAAAAGACCACCTCTTCGTCAGCTCGTTAACTCCAGGAGCTTGGCATATTAAACTCCGGGAACCCGGAAAGGGTAGTTTTGGAGATTCCCCCTTCTTTCGCTCTGCCTCTTCTTTACCCTAAGCCCACCACAGGCCTGTCCGCGCGCCAGGCCCAGCCGGGTCGTTTGGCTTTGCAGGCGGCCACCCAGGCCGGCCGGCTTCCACCCGTGTCCGGTGGCCCAGCCGCAACCCCGATCCCAATCCACATCG... | TACGTGCTCCCTTAACAGGGACTAGGCCGCCAACACTCTTTCTCGCCTAGCAAAACAACCAAATAAAGAGCAAAAGACCACCTCTTCGTCAGCTCGTTAACTCCAGGAGCTTGGCATATTAAACTCCGGGAACCCGGAAAGGGTAGTTTTGGAGATTCCCCCTTCTTTCGCTCTGCCTCTTCTTTACCCTAAGCCCACCACAGGCCTGTCCGCGCGCCAGGCCCAGCCGGGTCGTTTGGCTTTGCAGGCGGCCACCCAGGCCGGCCGGCTTCCACCCGTGTCCGGTGGCCCAGCCGCAACCCCGATCCCAATCCACATCG... |
Task1_train_8740 | This alteration occurs within gene ALPK1 (alpha kinase 1) located on Chromosome 4. Is it associated with a disease or is it a benign variant? | Pathogenic; Inborn genetic diseases | GATTCTAAATGTAGAGACGAGATTGTTTCTCAAAATGATGTCACATGTGCTCATGAAGACTTCTGTGAAAATAGTTTTAATTTGCAAGGCTATATCTCTGATAATTCAAGGGAATTTTCATCTTTTCTTTTAGGTACCTGGCTGTACAGAAATGAAAGTGACAAGGTCCTGGTGCAGTCGGTCTGTATACAGATCAGAGGGCAGATTCTGCAAAAGCTGGGTACAATCATGTAAAACTTGCATTTCTCAAGGCTCATTTACAAAGCCTGGCTGCATGGTTTCACTGTGGAATTTTCTTCTTTTATCAGGCTAAAATTGTT... | GATTCTAAATGTAGAGACGAGATTGTTTCTCAAAATGATGTCACATGTGCTCATGAAGACTTCTGTGAAAATAGTTTTAATTTGCAAGGCTATATCTCTGATAATTCAAGGGAATTTTCATCTTTTCTTTTAGGTACCTGGCTGTACAGAAATGAAAGTGACAAGGTCCTGGTGCAGTCGGTCTGTATACAGATCAGAGGGCAGATTCTGCAAAAGCTGGGTACAATCATGTAAAACTTGCATTTCTCAAGGCTCATTTACAAAGCCTGGCTGCATGGTTTCACTGTGGAATTTTCTTCTTTTATCAGGCTAAAATTGTT... |
Task1_train_8741 | A change on Chromosome 4 affects gene ALPK1 (alpha kinase 1). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache syndrome | GATTCTAAATGTAGAGACGAGATTGTTTCTCAAAATGATGTCACATGTGCTCATGAAGACTTCTGTGAAAATAGTTTTAATTTGCAAGGCTATATCTCTGATAATTCAAGGGAATTTTCATCTTTTCTTTTAGGTACCTGGCTGTACAGAAATGAAAGTGACAAGGTCCTGGTGCAGTCGGTCTGTATACAGATCAGAGGGCAGATTCTGCAAAAGCTGGGTACAATCATGTAAAACTTGCATTTCTCAAGGCTCATTTACAAAGCCTGGCTGCATGGTTTCACTGTGGAATTTTCTTCTTTTATCAGGCTAAAATTGTT... | GATTCTAAATGTAGAGACGAGATTGTTTCTCAAAATGATGTCACATGTGCTCATGAAGACTTCTGTGAAAATAGTTTTAATTTGCAAGGCTATATCTCTGATAATTCAAGGGAATTTTCATCTTTTCTTTTAGGTACCTGGCTGTACAGAAATGAAAGTGACAAGGTCCTGGTGCAGTCGGTCTGTATACAGATCAGAGGGCAGATTCTGCAAAAGCTGGGTACAATCATGTAAAACTTGCATTTCTCAAGGCTCATTTACAAAGCCTGGCTGCATGGTTTCACTGTGGAATTTTCTTCTTTTATCAGGCTAAAATTGTT... |
Task1_train_8742 | A variant was discovered in gene ANK2 (ankyrin 2), Chromosome 4. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; ANK2-related disorder | ATTATTTGAGTCCAAAAATGTTTCCTCTTTGTGGAGTAAGAGGGCTTTTCAGATCTTGTAGGTTGAGTATCTACCAGGCAAACCTCCTCCATTGCCAGAATTGACACCTTCTTTGATGATCGCTTATGTTGTTTTGCTAAAATATCCCTGTACCTAACCTTAGTAGAGCCCATGCTGTAGGCAGTGGGGTAACTAAGACTAAAGAAACACATTGTAGCAAAAAGAAGTTGACTAAACTTATTTGGTCCACAAAAATCTGTGTGTCCTTTTTTTCAATAGAGTCTATGGACACAAATACAGTATTTTGAAGCATCTGGGAC... | ATTATTTGAGTCCAAAAATGTTTCCTCTTTGTGGAGTAAGAGGGCTTTTCAGATCTTGTAGGTTGAGTATCTACCAGGCAAACCTCCTCCATTGCCAGAATTGACACCTTCTTTGATGATCGCTTATGTTGTTTTGCTAAAATATCCCTGTACCTAACCTTAGTAGAGCCCATGCTGTAGGCAGTGGGGTAACTAAGACTAAAGAAACACATTGTAGCAAAAAGAAGTTGACTAAACTTATTTGGTCCACAAAAATCTGTGTGTCCTTTTTTTCAATAGAGTCTATGGACACAAATACAGTATTTTGAAGCATCTGGGAC... |
Task1_train_8743 | A change on Chromosome 4 affects gene CAMK2D (calcium/calmodulin dependent protein kinase II delta). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; CAMK2D-related condition | GCATTATTCATTGTACTACTGTTGTTGCTATTTTTTAACAGCCTTTGAAAGGCCTCTTATGGTTTCCCATTATTTGTAATGAAATGCAAAGGTGGGGAGAAAGGTGACCACTTAATGCAGTTGTAAATAATAACTAGATATTGGTTGAAGAGCATTTAATAATGATATGATGGATTATTACCTGATAACACTATAACACCCAGGCTAAGTATGTAGCAGAAAACAAAATAAAGAATTGAAAAAATAGCTGGACAGTTTGATGCTGCAGATCACTGTTATGTAAACTGTATCCAAACTAAACTGGTAGTATTTTTGGCTGA... | GCATTATTCATTGTACTACTGTTGTTGCTATTTTTTAACAGCCTTTGAAAGGCCTCTTATGGTTTCCCATTATTTGTAATGAAATGCAAAGGTGGGGAGAAAGGTGACCACTTAATGCAGTTGTAAATAATAACTAGATATTGGTTGAAGAGCATTTAATAATGATATGATGGATTATTACCTGATAACACTATAACACCCAGGCTAAGTATGTAGCAGAAAACAAAATAAAGAATTGAAAAAATAGCTGGACAGTTTGATGCTGCAGATCACTGTTATGTAAACTGTATCCAAACTAAACTGGTAGTATTTTTGGCTGA... |
Task1_train_8744 | A mutation in CAMK2D (calcium/calmodulin dependent protein kinase II delta), located on Chromosome 4, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Neurodevelopmental disorder | CATTGTACTACTGTTGTTGCTATTTTTTAACAGCCTTTGAAAGGCCTCTTATGGTTTCCCATTATTTGTAATGAAATGCAAAGGTGGGGAGAAAGGTGACCACTTAATGCAGTTGTAAATAATAACTAGATATTGGTTGAAGAGCATTTAATAATGATATGATGGATTATTACCTGATAACACTATAACACCCAGGCTAAGTATGTAGCAGAAAACAAAATAAAGAATTGAAAAAATAGCTGGACAGTTTGATGCTGCAGATCACTGTTATGTAAACTGTATCCAAACTAAACTGGTAGTATTTTTGGCTGACAAGTGTT... | CATTGTACTACTGTTGTTGCTATTTTTTAACAGCCTTTGAAAGGCCTCTTATGGTTTCCCATTATTTGTAATGAAATGCAAAGGTGGGGAGAAAGGTGACCACTTAATGCAGTTGTAAATAATAACTAGATATTGGTTGAAGAGCATTTAATAATGATATGATGGATTATTACCTGATAACACTATAACACCCAGGCTAAGTATGTAGCAGAAAACAAAATAAAGAATTGAAAAAATAGCTGGACAGTTTGATGCTGCAGATCACTGTTATGTAAACTGTATCCAAACTAAACTGGTAGTATTTTTGGCTGACAAGTGTT... |
Task1_train_8745 | A variant found in Chromosome 4 affects CAMK2D (calcium/calmodulin dependent protein kinase II delta). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; not provided | TATGGTTTCCCATTATTTGTAATGAAATGCAAAGGTGGGGAGAAAGGTGACCACTTAATGCAGTTGTAAATAATAACTAGATATTGGTTGAAGAGCATTTAATAATGATATGATGGATTATTACCTGATAACACTATAACACCCAGGCTAAGTATGTAGCAGAAAACAAAATAAAGAATTGAAAAAATAGCTGGACAGTTTGATGCTGCAGATCACTGTTATGTAAACTGTATCCAAACTAAACTGGTAGTATTTTTGGCTGACAAGTGTTCCAAGTCTAAAGGGCCAAAGGTTACCAAGTGCGGCTTAATTGCTGCTCC... | TATGGTTTCCCATTATTTGTAATGAAATGCAAAGGTGGGGAGAAAGGTGACCACTTAATGCAGTTGTAAATAATAACTAGATATTGGTTGAAGAGCATTTAATAATGATATGATGGATTATTACCTGATAACACTATAACACCCAGGCTAAGTATGTAGCAGAAAACAAAATAAAGAATTGAAAAAATAGCTGGACAGTTTGATGCTGCAGATCACTGTTATGTAAACTGTATCCAAACTAAACTGGTAGTATTTTTGGCTGACAAGTGTTCCAAGTCTAAAGGGCCAAAGGTTACCAAGTGCGGCTTAATTGCTGCTCC... |
Task1_train_8746 | A variant affecting Chromosome 4, within the gene CAMK2D (calcium/calmodulin dependent protein kinase II delta), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Neurodevelopmental disorder | GGTTTCCCATTATTTGTAATGAAATGCAAAGGTGGGGAGAAAGGTGACCACTTAATGCAGTTGTAAATAATAACTAGATATTGGTTGAAGAGCATTTAATAATGATATGATGGATTATTACCTGATAACACTATAACACCCAGGCTAAGTATGTAGCAGAAAACAAAATAAAGAATTGAAAAAATAGCTGGACAGTTTGATGCTGCAGATCACTGTTATGTAAACTGTATCCAAACTAAACTGGTAGTATTTTTGGCTGACAAGTGTTCCAAGTCTAAAGGGCCAAAGGTTACCAAGTGCGGCTTAATTGCTGCTCCAGT... | GGTTTCCCATTATTTGTAATGAAATGCAAAGGTGGGGAGAAAGGTGACCACTTAATGCAGTTGTAAATAATAACTAGATATTGGTTGAAGAGCATTTAATAATGATATGATGGATTATTACCTGATAACACTATAACACCCAGGCTAAGTATGTAGCAGAAAACAAAATAAAGAATTGAAAAAATAGCTGGACAGTTTGATGCTGCAGATCACTGTTATGTAAACTGTATCCAAACTAAACTGGTAGTATTTTTGGCTGACAAGTGTTCCAAGTCTAAAGGGCCAAAGGTTACCAAGTGCGGCTTAATTGCTGCTCCAGT... |
Task1_train_8747 | A change on Chromosome 4 affects gene CAMK2D (calcium/calmodulin dependent protein kinase II delta). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Neurodevelopmental disorder | TTTTAGTCTAACTGGGTCCTTGCTTGCAGATTAACTATGCTTAAATCATCTTCTATACTTCTACTGGAATCATTATTAAACAACATACACCCAGTTATGTCCCTCTCTTCTAAAAATGTTTCACCAGATCCCAAAATCTCTAAGGTGAAATCCAAATCCTTCAAAAAAACATAAAATCATTTCCTGCCTCATTAACTACTACTCACTCGAGTATACTTTAGCTTTATCAAACTTCTTGTTTTACTGTAATAGAAAAAATAGTTTCATGCCTCTGAGCCTTTCCATGTGCAGATCCCTCTGTCTGGAATGCCTTAATCTTC... | TTTTAGTCTAACTGGGTCCTTGCTTGCAGATTAACTATGCTTAAATCATCTTCTATACTTCTACTGGAATCATTATTAAACAACATACACCCAGTTATGTCCCTCTCTTCTAAAAATGTTTCACCAGATCCCAAAATCTCTAAGGTGAAATCCAAATCCTTCAAAAAAACATAAAATCATTTCCTGCCTCATTAACTACTACTCACTCGAGTATACTTTAGCTTTATCAAACTTCTTGTTTTACTGTAATAGAAAAAATAGTTTCATGCCTCTGAGCCTTTCCATGTGCAGATCCCTCTGTCTGGAATGCCTTAATCTTC... |
Task1_train_8748 | Here’s a variant in CAMK2D (calcium/calmodulin dependent protein kinase II delta) located on Chromosome 4. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Neurodevelopmental disorder | AAAAAAAATCATAAAAGAAGGGACTCAAACATTGGAAAGGAAGAAAAAATAATGGAAAAAGTAAAAACAAGAGCTGAGAAAGGACTGAAGAGGAAGCACTACTAGAACAACATAGAGCCAGATGAAACTACGGCCACATGAGCAAGACATGGATGAACTGGGACTGTGGAGAGGAGCCTGTGCAGTAGGATTGTGCAGAAGTAGCGCTTTAGTCTCTATTCTAAATATGGCAGATATGCTTGGCTGCCTACCTGTCAGGCCTCTGAGCCCAAGCCTGCAGGTACGCATTAAGATGGTCTGGAGCAACTGAGGAACCGCAG... | AAAAAAAATCATAAAAGAAGGGACTCAAACATTGGAAAGGAAGAAAAAATAATGGAAAAAGTAAAAACAAGAGCTGAGAAAGGACTGAAGAGGAAGCACTACTAGAACAACATAGAGCCAGATGAAACTACGGCCACATGAGCAAGACATGGATGAACTGGGACTGTGGAGAGGAGCCTGTGCAGTAGGATTGTGCAGAAGTAGCGCTTTAGTCTCTATTCTAAATATGGCAGATATGCTTGGCTGCCTACCTGTCAGGCCTCTGAGCCCAAGCCTGCAGGTACGCATTAAGATGGTCTGGAGCAACTGAGGAACCGCAG... |
Task1_train_8749 | Consider this mutation in SEC24D (SEC24 homolog D, COPII coat complex component) on Chromosome 4. Is this a benign change or a disease-causing variant? | Pathogenic; not provided | GCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCTGCCATCACGCCCAGCTAATTTTTTGTATTTTCAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCCACCCGCCTCGGCCACCCAAAGTGCTGGTATTACAGGCGTGAGCCACCGCACCCAGCCTGTCACTTCTATTTAATGATTCTGGTTCTATACCCTAAGGAACACAAAGAACAAATCATTAGACAGCCTTCAAATGAATAAAGGAATGT... | GCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCTGCCATCACGCCCAGCTAATTTTTTGTATTTTCAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCCACCCGCCTCGGCCACCCAAAGTGCTGGTATTACAGGCGTGAGCCACCGCACCCAGCCTGTCACTTCTATTTAATGATTCTGGTTCTATACCCTAAGGAACACAAAGAACAAATCATTAGACAGCCTTCAAATGAATAAAGGAATGT... |
Task1_train_8750 | Consider a variant on Chromosome 4 in gene SEC24D (SEC24 homolog D, COPII coat complex component). Determine its clinical classification and disease relevance. | Pathogenic; Cole-Carpenter syndrome 2 | TGTAGAATGAATGAGGAAAGGGAAGCAGAATCTTGGAGAAGTGGCAGCTTCTATGAAGGTAGATTTGAACAGCTTGTAAACTGGAAAAGGGCCAATGGGAAAGGAATAATCTAGAAAATACAAGTGGAAGGAGAGAGAATAAAAAACATTTGGAGCACAGAGAACTGTGCAGGGCAGGACTAGAATTTCTCAGGAAGGCACTTGGTTTCGGTCATCTGTAGATATACTGTGGTAGAAATCTTTTTTTGTTGTTGTTCCCCACAGAGAATAATCTGACAATAAGGTCTAAGAGGACTGTTTTTGAAAAAGTAATTAGCATA... | TGTAGAATGAATGAGGAAAGGGAAGCAGAATCTTGGAGAAGTGGCAGCTTCTATGAAGGTAGATTTGAACAGCTTGTAAACTGGAAAAGGGCCAATGGGAAAGGAATAATCTAGAAAATACAAGTGGAAGGAGAGAGAATAAAAAACATTTGGAGCACAGAGAACTGTGCAGGGCAGGACTAGAATTTCTCAGGAAGGCACTTGGTTTCGGTCATCTGTAGATATACTGTGGTAGAAATCTTTTTTTGTTGTTGTTCCCCACAGAGAATAATCTGACAATAAGGTCTAAGAGGACTGTTTTTGAAAAAGTAATTAGCATA... |
Task1_train_8751 | This genomic variant is located on Chromosome 4, within the SEC24D (SEC24 homolog D, COPII coat complex component) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Cole-Carpenter syndrome 2 | TTTATGCAAACAACTTCCTGTGAAAGTTTGATCCCTTTTCAAGATTCAAGGCTATGTTGCGAGAGAAAAGAATGTACTTTGTTCCTTCAGTGGATGGAAAATTCCATCCAAGTACTACTGTTCCGGCATTAAAACAAACTACCAAATGTTGATTTCTCAAAGGGAATGCAGCGTCTTAGATAGCCCAGAAATCTGGTTAGTGGTCTACAGGCCAATCCAGCTGCACGTGGCATCCAGGTGATATGAAGGATTTTGACTTACATTTCTTCCGTTAAGACAGAGTAAAATGCTAATGTTTGCTTCTCAGCAAGAAGATGCCA... | TTTATGCAAACAACTTCCTGTGAAAGTTTGATCCCTTTTCAAGATTCAAGGCTATGTTGCGAGAGAAAAGAATGTACTTTGTTCCTTCAGTGGATGGAAAATTCCATCCAAGTACTACTGTTCCGGCATTAAAACAAACTACCAAATGTTGATTTCTCAAAGGGAATGCAGCGTCTTAGATAGCCCAGAAATCTGGTTAGTGGTCTACAGGCCAATCCAGCTGCACGTGGCATCCAGGTGATATGAAGGATTTTGACTTACATTTCTTCCGTTAAGACAGAGTAAAATGCTAATGTTTGCTTCTCAGCAAGAAGATGCCA... |
Task1_train_8752 | Gene SEC24D (SEC24 homolog D, COPII coat complex component) on Chromosome 4 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Cole-Carpenter syndrome 2 | CAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCCACCTGCCTTGGCCTCTCAAAGGGCTGGGATTACAGGCATGAGCCACCATGCCCAGCCATATGTCTTAACCCAGCATCTATCATATGATCCTCAGAATGACAGCTTCCTTAGATTTTGTACCCTAATTGCCTTCTCTTGCTGCAGCCTAGTTTTGGCTCCAGCAATTCAGTAAAAGTAGTTCTACTGAGGTCCAGTATCATACAATCCAGATAGCTCCTTGATGGTCTTGCTTGGGTCAAGGAAACTTTGGGCTCTATGGTAAAATAGTGGAATTCCTTTAGGAAT... | CAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCCACCTGCCTTGGCCTCTCAAAGGGCTGGGATTACAGGCATGAGCCACCATGCCCAGCCATATGTCTTAACCCAGCATCTATCATATGATCCTCAGAATGACAGCTTCCTTAGATTTTGTACCCTAATTGCCTTCTCTTGCTGCAGCCTAGTTTTGGCTCCAGCAATTCAGTAAAAGTAGTTCTACTGAGGTCCAGTATCATACAATCCAGATAGCTCCTTGATGGTCTTGCTTGGGTCAAGGAAACTTTGGGCTCTATGGTAAAATAGTGGAATTCCTTTAGGAAT... |
Task1_train_8753 | This gene mutation involves SEC24D (SEC24 homolog D, COPII coat complex component) on Chromosome 4. Is it associated with any clinical condition, or is it benign? | Pathogenic; Cole-Carpenter syndrome 2 | GGGATTAAATTATTCCATATAAAGTGGTTAGAAAATTGTCTTGATACATACTAAGTACTTGCAATTATTAGCTATAATAATAATGTTAATTTGTATATTTTTATTATATTATTAACCTCAGGTTTAGCATAGAGGCCTGGCACATAATAGGTACTGAATAAACATTTTCTGGATGTATGCATGAATGAGTGAAGTTCTGAACAAGTGGAATTCTGATCCCAGATAGCTCCAAGATTTGTGGGAGAGACCTATCTAAACCACAATAAAATTTAATGTGATACGGGTGAAATATATATGAAGCATTATGGGAAAAGACACTG... | GGGATTAAATTATTCCATATAAAGTGGTTAGAAAATTGTCTTGATACATACTAAGTACTTGCAATTATTAGCTATAATAATAATGTTAATTTGTATATTTTTATTATATTATTAACCTCAGGTTTAGCATAGAGGCCTGGCACATAATAGGTACTGAATAAACATTTTCTGGATGTATGCATGAATGAGTGAAGTTCTGAACAAGTGGAATTCTGATCCCAGATAGCTCCAAGATTTGTGGGAGAGACCTATCTAAACCACAATAAAATTTAATGTGATACGGGTGAAATATATATGAAGCATTATGGGAAAAGACACTG... |
Task1_train_8754 | This variant impacts the gene USP53 (ubiquitin specific peptidase 53) on Chromosome 4. Is the change likely to result in a pathogenic outcome? | Pathogenic; Cholestasis | CTGCTCTGCTGAGGAAAATAGAAGGAAGACAAAGAAACAGAGCATCCAGTATATATTAGCAACTCATTCGTGTCACTGAAATGTTTTGCCAGAGAACTTAAGATTTTGTTATACATTTTAGAGATAAATGTTTCATTTTTTTACATTCTTGAATATTCATAATGAACACATACACATAGACACACAGAATTTTTTTTTTTTAATGTATGTGCCTTAATTTCATTATGTTCCTGAAAAGGCTGTTTGAGTAAATCACCAAAGGAAGAAATTTTATATTCTCTTTTTTTAAGAACATGGCCAAATAGGGTTATTGTTAGGAC... | CTGCTCTGCTGAGGAAAATAGAAGGAAGACAAAGAAACAGAGCATCCAGTATATATTAGCAACTCATTCGTGTCACTGAAATGTTTTGCCAGAGAACTTAAGATTTTGTTATACATTTTAGAGATAAATGTTTCATTTTTTTACATTCTTGAATATTCATAATGAACACATACACATAGACACACAGAATTTTTTTTTTTTAATGTATGTGCCTTAATTTCATTATGTTCCTGAAAAGGCTGTTTGAGTAAATCACCAAAGGAAGAAATTTTATATTCTCTTTTTTTAAGAACATGGCCAAATAGGGTTATTGTTAGGAC... |
Task1_train_8755 | A genomic change on Chromosome 4 affects USP53 (ubiquitin specific peptidase 53). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Cholestasis, progressive familial intrahepatic, 7, with or without hearing loss | ATTAGTCTGTTCTCATGCTGCTAATAAAGACATACTCAAGACTGGGTAATTTATAAAACAGAGAGGTTTAATTGACTCACAGTTCTATGTGGCTAAGTAGGCCTCACAGTCATGGCAGAAGGCAAGGAGGAGCAAAGTCACATCTTACATGGTGGCAGGCAAGAGAAGAGAATGAGAGTCAAGCAAAAGGTGTTTATCCTTATGAAACCATCAGATCTTGTGAGACTTATTCACTACCACCAGAACAGTATCGGGGAAACTGCTCCCATGATTCAGTTGTCTCCAGCTGGGTCCCTCCCACAACACGAAGGAATTTTGGG... | ATTAGTCTGTTCTCATGCTGCTAATAAAGACATACTCAAGACTGGGTAATTTATAAAACAGAGAGGTTTAATTGACTCACAGTTCTATGTGGCTAAGTAGGCCTCACAGTCATGGCAGAAGGCAAGGAGGAGCAAAGTCACATCTTACATGGTGGCAGGCAAGAGAAGAGAATGAGAGTCAAGCAAAAGGTGTTTATCCTTATGAAACCATCAGATCTTGTGAGACTTATTCACTACCACCAGAACAGTATCGGGGAAACTGCTCCCATGATTCAGTTGTCTCCAGCTGGGTCCCTCCCACAACACGAAGGAATTTTGGG... |
Task1_train_8756 | Given a variant located on Chromosome 4 and affecting PRDM5 (PR/SET domain 5), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; not provided | AATGACCTACTGATACATGAGAAAATGTGGATAAACCTTGAGAACATTATGCTTAATGAAAGAAGCCAGTCACAAAAGGTCACATATTGCATATTTCATTTATATGAAATATCTAGAATAGGTAAGTCTATAGAAGTGAAAGCAGATTGGTAGCTGTTAAGGGATGAGGGGAGTGAGGTGTAAATGTTTATTGGGTATGGAGTTTTATTTTGTGGCAATGAAAATATTTTGGAGTTAGAGAGGTGGTGCTTGTACAACACAGTCAATATACTAAACGTCACTGAACTGCTCACATTAAAATGATCAATTTTATATCATGT... | AATGACCTACTGATACATGAGAAAATGTGGATAAACCTTGAGAACATTATGCTTAATGAAAGAAGCCAGTCACAAAAGGTCACATATTGCATATTTCATTTATATGAAATATCTAGAATAGGTAAGTCTATAGAAGTGAAAGCAGATTGGTAGCTGTTAAGGGATGAGGGGAGTGAGGTGTAAATGTTTATTGGGTATGGAGTTTTATTTTGTGGCAATGAAAATATTTTGGAGTTAGAGAGGTGGTGCTTGTACAACACAGTCAATATACTAAACGTCACTGAACTGCTCACATTAAAATGATCAATTTTATATCATGT... |
Task1_train_8757 | With a mutation on Chromosome 4 in gene PRDM5 (PR/SET domain 5), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Brittle cornea syndrome 2 | AGTCAAATGTTGGCATATTTTTAAACTTAAAGTACCACAATTTATTTAACCAAACTCTTCATTGTTAGACATTTGGGTGGCTTGTTTCTTTTGCTGTTTGTTTTTATTTTGTTTCTTTGCTTTTCTAAATAAAACTAAGAATTCTAAAATAAAAATAGCCATGGCACATGGCACATGGCACATGTATACATATGTAACAAACCTGCACATTGTGCACATGTACCCTAAAACTTAAAGTATAATAATAATAAAATAAAATTTTAAAAAAACCAAAATAGCCACAATGCAAGTGCTTGGTTCATGTGTTTAAAAAATTCTGT... | AGTCAAATGTTGGCATATTTTTAAACTTAAAGTACCACAATTTATTTAACCAAACTCTTCATTGTTAGACATTTGGGTGGCTTGTTTCTTTTGCTGTTTGTTTTTATTTTGTTTCTTTGCTTTTCTAAATAAAACTAAGAATTCTAAAATAAAAATAGCCATGGCACATGGCACATGGCACATGTATACATATGTAACAAACCTGCACATTGTGCACATGTACCCTAAAACTTAAAGTATAATAATAATAAAATAAAATTTTAAAAAAACCAAAATAGCCACAATGCAAGTGCTTGGTTCATGTGTTTAAAAAATTCTGT... |
Task1_train_8758 | Here’s a variant in EXOSC9 (exosome component 9) located on Chromosome 4. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Pontocerebellar hypoplasia, type 1D | ATCCCCTTGCCGATTTTGAAAATTAATCATTTCTGTCCACTTTCCTCCTTCTTCACAATTTCTCTCTCCAGACCATGTGGAGCTCATCTCATCTCAGTTTTTGCATATGTTACTCTTTCTGCTTGAAACACTTTTCCTCTCCAGATGGCATCAAGGGTGCTCCTGCTCAACACCAAAGATTTACTTTACTTTAATGTCACCGCTACAAAGTCACCTGTTCCTGCAACTACCCCTATTAAGATAGCATTCCTATTCTCAGAGAGCACTTAACACTGTATGAAATTGTTCTATTTGTTTAGGGTTTTTTGCCTTTTCCAAAA... | ATCCCCTTGCCGATTTTGAAAATTAATCATTTCTGTCCACTTTCCTCCTTCTTCACAATTTCTCTCTCCAGACCATGTGGAGCTCATCTCATCTCAGTTTTTGCATATGTTACTCTTTCTGCTTGAAACACTTTTCCTCTCCAGATGGCATCAAGGGTGCTCCTGCTCAACACCAAAGATTTACTTTACTTTAATGTCACCGCTACAAAGTCACCTGTTCCTGCAACTACCCCTATTAAGATAGCATTCCTATTCTCAGAGAGCACTTAACACTGTATGAAATTGTTCTATTTGTTTAGGGTTTTTTGCCTTTTCCAAAA... |
Task1_train_8759 | A variant on Chromosome 4 in gene EXOSC9 (exosome component 9) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Pontocerebellar hypoplasia, type 1D | TGGCAGCATGGCCCCGCTAAGGCTTCTCTGTGACCGTAAAAAAAAGTCTATCGACTTAAAATAACTGGAGAGGGGATAAGAAATAAACGGTGCATTTACTTTCAGTCCACAGTAGTAGTAACATCGTTAGTTACTACGTGCGAACATTCTCCATTCTCATCAACTTCTCAGATCCCACAAGATTTCACCTTTGGCCACAAAAACATCCCATTTCACCAATTTATCTTTCTCCCCCAACCCTTATGCCGCCTCATTCCAGTGTTTGTTCATTTAATCTGCTCCAAATCCTGCATCTGCGGCTTTCCAGGGACCAATGTCAA... | TGGCAGCATGGCCCCGCTAAGGCTTCTCTGTGACCGTAAAAAAAAGTCTATCGACTTAAAATAACTGGAGAGGGGATAAGAAATAAACGGTGCATTTACTTTCAGTCCACAGTAGTAGTAACATCGTTAGTTACTACGTGCGAACATTCTCCATTCTCATCAACTTCTCAGATCCCACAAGATTTCACCTTTGGCCACAAAAACATCCCATTTCACCAATTTATCTTTCTCCCCCAACCCTTATGCCGCCTCATTCCAGTGTTTGTTCATTTAATCTGCTCCAAATCCTGCATCTGCGGCTTTCCAGGGACCAATGTCAA... |
Task1_train_8760 | A sequence alteration has been identified in BBS7 (Bardet-Biedl syndrome 7) on Chromosome 4. Is it disease-inducing or harmless? | Pathogenic; Retinal dystrophy | TATGACTGGTTTGCAAAATAGATCCAGTCATAAAACTAAGAAATTAGACATTTTGCTTACCTGTATTAAGACATTATCTATTGCAGTCTGTACCTCTAAGATAAGGCTGTAACTGGCATCATCTTTATTTAGTGTAAATTTATCATTTATACCAAAGGAAGGTACTGCTGATTTTGCTTTGCTTGATTGAGAAGACTGTTGATAATTCTCTCTTTCCTGCAATACCTTATACTGCAAATGTTCCAACTCATTCCTGGAGAAAAACACATACAAATTTGTCAAATATAAGTATAAACATTTGAGGTCGTTAGGATGTTTAC... | TATGACTGGTTTGCAAAATAGATCCAGTCATAAAACTAAGAAATTAGACATTTTGCTTACCTGTATTAAGACATTATCTATTGCAGTCTGTACCTCTAAGATAAGGCTGTAACTGGCATCATCTTTATTTAGTGTAAATTTATCATTTATACCAAAGGAAGGTACTGCTGATTTTGCTTTGCTTGATTGAGAAGACTGTTGATAATTCTCTCTTTCCTGCAATACCTTATACTGCAAATGTTCCAACTCATTCCTGGAGAAAAACACATACAAATTTGTCAAATATAAGTATAAACATTTGAGGTCGTTAGGATGTTTAC... |
Task1_train_8761 | The gene BBS7 (Bardet-Biedl syndrome 7), on Chromosome 4, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Bardet-Biedl syndrome 7 | TTCAGCAACTCCCACGTCTTCGTTGTATGAAGCACCTTTATTGGAGTTTGAGGTCCCCCTTTTCACAGCACACGTCAAATTGAGCAGACCATAAAAGCAATTCCTGTGTCTAGGGGAGTCAAAATTACTCAGTTCCGGTTAAGAAAATTTACAAGCCAACATTACAGATTCAGAAGGGTCCACAGGAACAGCAAACGTTAGAGTTAATGAGAAATAATACAGCCATCTGTGTTGATTTCTAATGTCTGTGAAAAATAAAAAATAAAACACAAGTGTCTATGACACACACACACAAAAAAGAAAAACACAACCCTTGACCT... | TTCAGCAACTCCCACGTCTTCGTTGTATGAAGCACCTTTATTGGAGTTTGAGGTCCCCCTTTTCACAGCACACGTCAAATTGAGCAGACCATAAAAGCAATTCCTGTGTCTAGGGGAGTCAAAATTACTCAGTTCCGGTTAAGAAAATTTACAAGCCAACATTACAGATTCAGAAGGGTCCACAGGAACAGCAAACGTTAGAGTTAATGAGAAATAATACAGCCATCTGTGTTGATTTCTAATGTCTGTGAAAAATAAAAAATAAAACACAAGTGTCTATGACACACACACACAAAAAAGAAAAACACAACCCTTGACCT... |
Task1_train_8762 | Mutation context: Chromosome 4, Gene BBS7 (Bardet-Biedl syndrome 7). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Bardet-Biedl syndrome 7 | CAGCAACTCCCACGTCTTCGTTGTATGAAGCACCTTTATTGGAGTTTGAGGTCCCCCTTTTCACAGCACACGTCAAATTGAGCAGACCATAAAAGCAATTCCTGTGTCTAGGGGAGTCAAAATTACTCAGTTCCGGTTAAGAAAATTTACAAGCCAACATTACAGATTCAGAAGGGTCCACAGGAACAGCAAACGTTAGAGTTAATGAGAAATAATACAGCCATCTGTGTTGATTTCTAATGTCTGTGAAAAATAAAAAATAAAACACAAGTGTCTATGACACACACACACAAAAAAGAAAAACACAACCCTTGACCTAA... | CAGCAACTCCCACGTCTTCGTTGTATGAAGCACCTTTATTGGAGTTTGAGGTCCCCCTTTTCACAGCACACGTCAAATTGAGCAGACCATAAAAGCAATTCCTGTGTCTAGGGGAGTCAAAATTACTCAGTTCCGGTTAAGAAAATTTACAAGCCAACATTACAGATTCAGAAGGGTCCACAGGAACAGCAAACGTTAGAGTTAATGAGAAATAATACAGCCATCTGTGTTGATTTCTAATGTCTGTGAAAAATAAAAAATAAAACACAAGTGTCTATGACACACACACACAAAAAAGAAAAACACAACCCTTGACCTAA... |
Task1_train_8763 | A genomic change on Chromosome 4 affects BBS7 (Bardet-Biedl syndrome 7). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Bardet-Biedl syndrome | CAGCAACTCCCACGTCTTCGTTGTATGAAGCACCTTTATTGGAGTTTGAGGTCCCCCTTTTCACAGCACACGTCAAATTGAGCAGACCATAAAAGCAATTCCTGTGTCTAGGGGAGTCAAAATTACTCAGTTCCGGTTAAGAAAATTTACAAGCCAACATTACAGATTCAGAAGGGTCCACAGGAACAGCAAACGTTAGAGTTAATGAGAAATAATACAGCCATCTGTGTTGATTTCTAATGTCTGTGAAAAATAAAAAATAAAACACAAGTGTCTATGACACACACACACAAAAAAGAAAAACACAACCCTTGACCTAA... | CAGCAACTCCCACGTCTTCGTTGTATGAAGCACCTTTATTGGAGTTTGAGGTCCCCCTTTTCACAGCACACGTCAAATTGAGCAGACCATAAAAGCAATTCCTGTGTCTAGGGGAGTCAAAATTACTCAGTTCCGGTTAAGAAAATTTACAAGCCAACATTACAGATTCAGAAGGGTCCACAGGAACAGCAAACGTTAGAGTTAATGAGAAATAATACAGCCATCTGTGTTGATTTCTAATGTCTGTGAAAAATAAAAAATAAAACACAAGTGTCTATGACACACACACACAAAAAAGAAAAACACAACCCTTGACCTAA... |
Task1_train_8764 | The gene BBS7 (Bardet-Biedl syndrome 7) is located on Chromosome 4, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Bardet-Biedl syndrome | GATTAGATCTTCCTTTAATTTACTGAACACAAAACACTGGAAATCACCTGACTTGCAGAAGAATGTTTTACTTATCCAATAGAAACACGCACATTCTCACTTTCTGAGTGGTTTATCAGGGAACTATTAATTACAACTTTAAAGAGTATATTTAATGCAATATACTTGGAAAACATTACAAAAATTTTTTACAAACTGTTCATTTCCTAACTGTTCATTTCTATACCCTTTTTTGCTAATAGAACATTTTAATGAAATTCATTTATCTTATGTACTTATATAAAAAAATCGGGGCTACTCTGCACACTGCCTATGGGGTA... | GATTAGATCTTCCTTTAATTTACTGAACACAAAACACTGGAAATCACCTGACTTGCAGAAGAATGTTTTACTTATCCAATAGAAACACGCACATTCTCACTTTCTGAGTGGTTTATCAGGGAACTATTAATTACAACTTTAAAGAGTATATTTAATGCAATATACTTGGAAAACATTACAAAAATTTTTTACAAACTGTTCATTTCCTAACTGTTCATTTCTATACCCTTTTTTGCTAATAGAACATTTTAATGAAATTCATTTATCTTATGTACTTATATAAAAAAATCGGGGCTACTCTGCACACTGCCTATGGGGTA... |
Task1_train_8765 | This sequence change occurs on Chromosome 4, altering BBS7 (Bardet-Biedl syndrome 7). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Bardet-Biedl syndrome 7 | AATGAAAAAGTAATTTGTTATCCTGCTTAAAGGCAAGAGTCTATTATTCAAACACAAGAGAAGTCTAGAGAAGATTCTGATAACATCAAAATAGCAATATTTTAAACCAAACACAAGATTTTAATATATTTTCACTTAATAAAATTCAAACCATCTGTCATCTCTATAATAATTTGACAAATAATAAGCATATAGTCTTTTTTAATGAACTTACCTGATCAAATCGTAGAACAGGTTCATTTGCATTATCAAAACTATACACTTCCACCATTCCGTCATCTCTCCCAACAAGTAAATCTTTAACCCCATCACCCACAATG... | AATGAAAAAGTAATTTGTTATCCTGCTTAAAGGCAAGAGTCTATTATTCAAACACAAGAGAAGTCTAGAGAAGATTCTGATAACATCAAAATAGCAATATTTTAAACCAAACACAAGATTTTAATATATTTTCACTTAATAAAATTCAAACCATCTGTCATCTCTATAATAATTTGACAAATAATAAGCATATAGTCTTTTTTAATGAACTTACCTGATCAAATCGTAGAACAGGTTCATTTGCATTATCAAAACTATACACTTCCACCATTCCGTCATCTCTCCCAACAAGTAAATCTTTAACCCCATCACCCACAATG... |
Task1_train_8766 | Here’s a variant in BBS7 (Bardet-Biedl syndrome 7) located on Chromosome 4. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Bardet-Biedl syndrome | AATGAAAAAGTAATTTGTTATCCTGCTTAAAGGCAAGAGTCTATTATTCAAACACAAGAGAAGTCTAGAGAAGATTCTGATAACATCAAAATAGCAATATTTTAAACCAAACACAAGATTTTAATATATTTTCACTTAATAAAATTCAAACCATCTGTCATCTCTATAATAATTTGACAAATAATAAGCATATAGTCTTTTTTAATGAACTTACCTGATCAAATCGTAGAACAGGTTCATTTGCATTATCAAAACTATACACTTCCACCATTCCGTCATCTCTCCCAACAAGTAAATCTTTAACCCCATCACCCACAATG... | AATGAAAAAGTAATTTGTTATCCTGCTTAAAGGCAAGAGTCTATTATTCAAACACAAGAGAAGTCTAGAGAAGATTCTGATAACATCAAAATAGCAATATTTTAAACCAAACACAAGATTTTAATATATTTTCACTTAATAAAATTCAAACCATCTGTCATCTCTATAATAATTTGACAAATAATAAGCATATAGTCTTTTTTAATGAACTTACCTGATCAAATCGTAGAACAGGTTCATTTGCATTATCAAAACTATACACTTCCACCATTCCGTCATCTCTCCCAACAAGTAAATCTTTAACCCCATCACCCACAATG... |
Task1_train_8767 | A variant affecting Chromosome 4, within the gene TRPC3 (transient receptor potential cation channel subfamily C member 3), has been observed. Determine if it's benign or associated with disease. | Pathogenic; not provided | GTGAACAGGCTGTATTTTCTTTACAGTGGTCTAGGTAGCCACAAGCCTACTGCGTGTGCTCTTCTCAACCTGACGTTTAGTATTTTCCCTTCTACATTATGATAATATCAGGAATGAAGTCAGTGAGACCTGTTGCCTACAGAAAGAAAACTCAAGGTGTGTTCTGTGAAGTGCAAGAGTTGTGAGCTCCCACACTTGAGAGACTTTCTTTTTTGCAATAAAGCTTCAGTTAATAAATCCCCAGAAAAACAAAAGTCCCTCAAAGCAAAGTCAATTTCAGTAGCAGCAGGAGCTGCCCAGGATGACAACTAGAGCCTGGC... | GTGAACAGGCTGTATTTTCTTTACAGTGGTCTAGGTAGCCACAAGCCTACTGCGTGTGCTCTTCTCAACCTGACGTTTAGTATTTTCCCTTCTACATTATGATAATATCAGGAATGAAGTCAGTGAGACCTGTTGCCTACAGAAAGAAAACTCAAGGTGTGTTCTGTGAAGTGCAAGAGTTGTGAGCTCCCACACTTGAGAGACTTTCTTTTTTGCAATAAAGCTTCAGTTAATAAATCCCCAGAAAAACAAAAGTCCCTCAAAGCAAAGTCAATTTCAGTAGCAGCAGGAGCTGCCCAGGATGACAACTAGAGCCTGGC... |
Task1_train_8768 | Assess the clinical impact of this variant on gene BLTP1 (bridge-like lipid transfer protein family member 1), found on Chromosome 4. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Alkuraya-Kucinskas syndrome | TCACTCACATTCTGTACAGAATAGAAAATAAACTTTGGTAAGAAAATTAAGTGGTATGGCCCCAAATTAGGAACTTCTATTTCCCATGTTTCTATTTCCCATGTGTTTTTTCCATGCTATTTACTTGCTCGTTATAGAACAGAGAAGACATGATCTTTATAGTCTTTCTTATTTTTTAAGTCATTCTGTTTGTAAAACAGTGTTAGAAAGAATTAATTGTAATATTAATCAAAACCAGAGAGTCTGTAAAATACAGCAGCAATAAGGTGACACACATTCCTCTTAAAGTCCCTAGTTAGGTAAAAGGAAAGTAGAGCTGT... | TCACTCACATTCTGTACAGAATAGAAAATAAACTTTGGTAAGAAAATTAAGTGGTATGGCCCCAAATTAGGAACTTCTATTTCCCATGTTTCTATTTCCCATGTGTTTTTTCCATGCTATTTACTTGCTCGTTATAGAACAGAGAAGACATGATCTTTATAGTCTTTCTTATTTTTTAAGTCATTCTGTTTGTAAAACAGTGTTAGAAAGAATTAATTGTAATATTAATCAAAACCAGAGAGTCTGTAAAATACAGCAGCAATAAGGTGACACACATTCCTCTTAAAGTCCCTAGTTAGGTAAAAGGAAAGTAGAGCTGT... |
Task1_train_8769 | This variant affects the gene BLTP1 (bridge-like lipid transfer protein family member 1) found on Chromosome 4. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Alkuraya-Kucinskas syndrome | CACTTGTAGCATCATATCAACATTCAGAAAGTTTTGGGATTTTGGATTTCGGATTAGGGATGCTCAACCTGCATTTGCTTTTCCTCCTACTTCTCTGGCCTCTCCATCTTTATGTCCTTTTTAGAGGCCCCTCCATCTATACACTGCTGTGAAATGAAGGTTTTCCTTAAGGTTTGTTTCTGTTTAACAAACTCAAACATCTTTGACTTTTCTCTGTAAATCAGATCCTTTTAATGGTATGTTCCTAGCATTATGTACCTTAAAGAATTTTAAAAGAAGTAACAGCTCTACAGATGAAGTTAAGCACCATGTCTGTTTTC... | CACTTGTAGCATCATATCAACATTCAGAAAGTTTTGGGATTTTGGATTTCGGATTAGGGATGCTCAACCTGCATTTGCTTTTCCTCCTACTTCTCTGGCCTCTCCATCTTTATGTCCTTTTTAGAGGCCCCTCCATCTATACACTGCTGTGAAATGAAGGTTTTCCTTAAGGTTTGTTTCTGTTTAACAAACTCAAACATCTTTGACTTTTCTCTGTAAATCAGATCCTTTTAATGGTATGTTCCTAGCATTATGTACCTTAAAGAATTTTAAAAGAAGTAACAGCTCTACAGATGAAGTTAAGCACCATGTCTGTTTTC... |
Task1_train_8770 | The following genetic variant occurs in LOC126807147, IL21-AS1, IL21 (CDK7 strongly-dependent group 2 enhancer GRCh37_chr4:123541308-123542507| IL21 antisense RNA 1| interleukin 21) on Chromosome 4. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; IL21-related infantile inflammatory bowel disease | AAAAAAAAAAAAAAGGATTACCTTTGTCCTACACACAAACTAGGTTTATATCAGGGTTTCTCAACGGTGATACCACTGACATTTGGGGCTAGATAATTCTTTGTTGTCAGGGCTGTCTTGTGCATTCTAGAATGTTTAGTACCTGGCTTCTACCTACTAGATGCCAGTAGCACCCCCATTCTACCTCCAAGTGTGACAACCAGAAATTTTTCCAGCCAATGCCAAATGTTTTCTGGGGCACAAAAATCACCACCGGTTGAGAACCACTGGTTATATGATTAGACGGAAAGAAAAAGAGAAAAAGAAAGATGCCTGGCTAG... | AAAAAAAAAAAAAAGGATTACCTTTGTCCTACACACAAACTAGGTTTATATCAGGGTTTCTCAACGGTGATACCACTGACATTTGGGGCTAGATAATTCTTTGTTGTCAGGGCTGTCTTGTGCATTCTAGAATGTTTAGTACCTGGCTTCTACCTACTAGATGCCAGTAGCACCCCCATTCTACCTCCAAGTGTGACAACCAGAAATTTTTCCAGCCAATGCCAAATGTTTTCTGGGGCACAAAAATCACCACCGGTTGAGAACCACTGGTTATATGATTAGACGGAAAGAAAAAGAGAAAAAGAAAGATGCCTGGCTAG... |
Task1_train_8771 | Here is a genetic alteration in BBS12 (Bardet-Biedl syndrome 12) on Chromosome 4. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Bardet-Biedl syndrome | GGAGGCTGAGGTGGGAGAATCACCTAAGCCCAGGAGGTCGAGGCTGCAGTGAGCCATGCCACTGCACTCCAGTCTAGGTGACAGAGCGAGACCCTGTCTAAAAAATAAAAATAAAAAGAATGCTAATCATTTCTGAGTTCGCTGTGACTTGTAATACTGGGGATCTCCCTTGTAACACTGGAACTGAAAGACTGACGAAAGCTATGTCAAGCATTCATTATTCTGAAGAGGAGGAGAAATGCCACATACCTTTCCCATTGAACCTGTGGTGGAATAAATCCATGGTTGTGTCTTGCTTTGAACAGACTTTTGTTCTGAGC... | GGAGGCTGAGGTGGGAGAATCACCTAAGCCCAGGAGGTCGAGGCTGCAGTGAGCCATGCCACTGCACTCCAGTCTAGGTGACAGAGCGAGACCCTGTCTAAAAAATAAAAATAAAAAGAATGCTAATCATTTCTGAGTTCGCTGTGACTTGTAATACTGGGGATCTCCCTTGTAACACTGGAACTGAAAGACTGACGAAAGCTATGTCAAGCATTCATTATTCTGAAGAGGAGGAGAAATGCCACATACCTTTCCCATTGAACCTGTGGTGGAATAAATCCATGGTTGTGTCTTGCTTTGAACAGACTTTTGTTCTGAGC... |
Task1_train_8772 | Mutation context: Chromosome 4, Gene BBS12 (Bardet-Biedl syndrome 12). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Bardet-Biedl syndrome | CACTGCGCCCAGCCGCTCCACTACATTTTTTATATTCTCATAAAACCAGGCTACTTCTATTTCCCTGAATACACTATGTTTTTTTCACATATATGTACATTTACTACTACCTCCTTCAACTTGTAACTCTTTCCAGTTATTTTTCAAGACTCATTCCAAGAATTGCTTTCTTCTGGAAACGTTGCCTACAGCCCTCATGCTTCATTTCCTCTGTTGGGTGGAGTGTTTCTCTTCCATTCCCCCATACCTTTATCATTAATAGAATAATAATACTGTATCATTGCACTGACCACTTTTCATGGAAATTATATGTACCTCAA... | CACTGCGCCCAGCCGCTCCACTACATTTTTTATATTCTCATAAAACCAGGCTACTTCTATTTCCCTGAATACACTATGTTTTTTTCACATATATGTACATTTACTACTACCTCCTTCAACTTGTAACTCTTTCCAGTTATTTTTCAAGACTCATTCCAAGAATTGCTTTCTTCTGGAAACGTTGCCTACAGCCCTCATGCTTCATTTCCTCTGTTGGGTGGAGTGTTTCTCTTCCATTCCCCCATACCTTTATCATTAATAGAATAATAATACTGTATCATTGCACTGACCACTTTTCATGGAAATTATATGTACCTCAA... |
Task1_train_8773 | Assess the clinical impact of this variant on gene BBS12 (Bardet-Biedl syndrome 12), found on Chromosome 4. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; not specified | CACTGCGCCCAGCCGCTCCACTACATTTTTTATATTCTCATAAAACCAGGCTACTTCTATTTCCCTGAATACACTATGTTTTTTTCACATATATGTACATTTACTACTACCTCCTTCAACTTGTAACTCTTTCCAGTTATTTTTCAAGACTCATTCCAAGAATTGCTTTCTTCTGGAAACGTTGCCTACAGCCCTCATGCTTCATTTCCTCTGTTGGGTGGAGTGTTTCTCTTCCATTCCCCCATACCTTTATCATTAATAGAATAATAATACTGTATCATTGCACTGACCACTTTTCATGGAAATTATATGTACCTCAA... | CACTGCGCCCAGCCGCTCCACTACATTTTTTATATTCTCATAAAACCAGGCTACTTCTATTTCCCTGAATACACTATGTTTTTTTCACATATATGTACATTTACTACTACCTCCTTCAACTTGTAACTCTTTCCAGTTATTTTTCAAGACTCATTCCAAGAATTGCTTTCTTCTGGAAACGTTGCCTACAGCCCTCATGCTTCATTTCCTCTGTTGGGTGGAGTGTTTCTCTTCCATTCCCCCATACCTTTATCATTAATAGAATAATAATACTGTATCATTGCACTGACCACTTTTCATGGAAATTATATGTACCTCAA... |
Task1_train_8774 | Gene AFG2A (AFG2 AAA ATPase homolog A) on Chromosome 4 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome | TTATTTGAAATTAGGTCAGATCCCACATGGCTCTCCTGGCACTCTAAGTCATTTTTTCATTGTATTAATCTTAGTTTATTATTTTACAGCTATCCACTGATTGTTTAATAACTCACTCATCCTACAAGGCTATAAACTCTGTGAGACCAAGGACTTGTGAACAAAAGTGCCTAGCATAGTATCTTTCATATAGTAGGCACATAGTACATATTTGCTGAATGAATAAATGAAGGGTGGATGGTTGTTTGAAATTATCTTTACTATCTTGTTAGTTAATGTGATACTTAAGGTGCTCAATAAATGTGAAAGTAGTTAATGGG... | TTATTTGAAATTAGGTCAGATCCCACATGGCTCTCCTGGCACTCTAAGTCATTTTTTCATTGTATTAATCTTAGTTTATTATTTTACAGCTATCCACTGATTGTTTAATAACTCACTCATCCTACAAGGCTATAAACTCTGTGAGACCAAGGACTTGTGAACAAAAGTGCCTAGCATAGTATCTTTCATATAGTAGGCACATAGTACATATTTGCTGAATGAATAAATGAAGGGTGGATGGTTGTTTGAAATTATCTTTACTATCTTGTTAGTTAATGTGATACTTAAGGTGCTCAATAAATGTGAAAGTAGTTAATGGG... |
Task1_train_8775 | Located on Chromosome 4, this mutation impacts AFG2A (AFG2 AAA ATPase homolog A). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Neurodevelopmental disorder | TTATTTGAAATTAGGTCAGATCCCACATGGCTCTCCTGGCACTCTAAGTCATTTTTTCATTGTATTAATCTTAGTTTATTATTTTACAGCTATCCACTGATTGTTTAATAACTCACTCATCCTACAAGGCTATAAACTCTGTGAGACCAAGGACTTGTGAACAAAAGTGCCTAGCATAGTATCTTTCATATAGTAGGCACATAGTACATATTTGCTGAATGAATAAATGAAGGGTGGATGGTTGTTTGAAATTATCTTTACTATCTTGTTAGTTAATGTGATACTTAAGGTGCTCAATAAATGTGAAAGTAGTTAATGGG... | TTATTTGAAATTAGGTCAGATCCCACATGGCTCTCCTGGCACTCTAAGTCATTTTTTCATTGTATTAATCTTAGTTTATTATTTTACAGCTATCCACTGATTGTTTAATAACTCACTCATCCTACAAGGCTATAAACTCTGTGAGACCAAGGACTTGTGAACAAAAGTGCCTAGCATAGTATCTTTCATATAGTAGGCACATAGTACATATTTGCTGAATGAATAAATGAAGGGTGGATGGTTGTTTGAAATTATCTTTACTATCTTGTTAGTTAATGTGATACTTAAGGTGCTCAATAAATGTGAAAGTAGTTAATGGG... |
Task1_train_8776 | Gene AFG2A (AFG2 AAA ATPase homolog A) on Chromosome 4 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome | TATGGAGCTTGGTGGGGGTGGGGTGGATAGAAAGGAGTGGAGATGACAGCACATCATTTTCAGAGGTGTTGTTAACTGGCCTGAATTCTGGACCCCCTTTTTCAGCCAAAAGTTGAAATCACTAGTGGTGTGTGTTCGTATAAGGAAGACGACTTCTGTTACTCTCTTTACGTATTCTTGGTAATACAAAAGAAAAAGATCTGGTGACCATAATGTGGGGCAGAAGTAGAAACATAACTTAATCCTCTAGAGCCAGATAGATGTGCCAGTTCCCAGTTCAATCCTTTGAATACTAGTAGCTGACTCAACTTTGAACTTAA... | TATGGAGCTTGGTGGGGGTGGGGTGGATAGAAAGGAGTGGAGATGACAGCACATCATTTTCAGAGGTGTTGTTAACTGGCCTGAATTCTGGACCCCCTTTTTCAGCCAAAAGTTGAAATCACTAGTGGTGTGTGTTCGTATAAGGAAGACGACTTCTGTTACTCTCTTTACGTATTCTTGGTAATACAAAAGAAAAAGATCTGGTGACCATAATGTGGGGCAGAAGTAGAAACATAACTTAATCCTCTAGAGCCAGATAGATGTGCCAGTTCCCAGTTCAATCCTTTGAATACTAGTAGCTGACTCAACTTTGAACTTAA... |
Task1_train_8777 | A variant affecting Chromosome 4, within the gene AFG2A (AFG2 AAA ATPase homolog A), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome | TTTATTTGTTACAGATTCTATGGTGAGACTGAAGCAAAGTTACGTCAGATATTTGCTGAAGCCACTCTACGGTACTCTTTATTTTTAAATGTTTTGGAATTAATAATCAAGGCTGTATTAGTCAAAGTGAGATACTAGCACCTTATACAAAGCATAAACAGTAGTACAAAAATTATAGTGATAGTGGTAGAAGTAGATTATAGATCTAATGAAATTCTATTTCTATCTAATCTTTAAAAGTTTGATAAATATTATTAAATTACATAAAGTAGAAGAATTAAGACATAGTGTTTGATAAGTCATGTGACCTTGTTTGAGCA... | TTTATTTGTTACAGATTCTATGGTGAGACTGAAGCAAAGTTACGTCAGATATTTGCTGAAGCCACTCTACGGTACTCTTTATTTTTAAATGTTTTGGAATTAATAATCAAGGCTGTATTAGTCAAAGTGAGATACTAGCACCTTATACAAAGCATAAACAGTAGTACAAAAATTATAGTGATAGTGGTAGAAGTAGATTATAGATCTAATGAAATTCTATTTCTATCTAATCTTTAAAAGTTTGATAAATATTATTAAATTACATAAAGTAGAAGAATTAAGACATAGTGTTTGATAAGTCATGTGACCTTGTTTGAGCA... |
Task1_train_8778 | This gene mutation involves AFG2A (AFG2 AAA ATPase homolog A) on Chromosome 4. Is it associated with any clinical condition, or is it benign? | Pathogenic; Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome | CGGCTGCTTTGTTTACTGAAGCAAGCCTGGGCAATGGCGGGCGCCCCTCCCCCAGCCTCACTGCCGCCTTGCAGTTTGATCTCAGACTGCTGTGCTAGCAATCAGCGAGACTCCGTGGGCGTAGGACCCTCCGAGCCAGGTGCGGGATATAATCTCCTGGTGCACCGTTTCCTAAGCCCATCGGAAAAGCGCGGTATTAGGGTGGGAGTGACCCGATATTCCAGGTGCTGTCTGTCACCCCTTTCCTTGACCAGCAAAGGGAACTCCCTGACCCCTTGCACTTCCCGAGTGAGGCAATGCCTCACCCTGCTTCGGCTCGC... | CGGCTGCTTTGTTTACTGAAGCAAGCCTGGGCAATGGCGGGCGCCCCTCCCCCAGCCTCACTGCCGCCTTGCAGTTTGATCTCAGACTGCTGTGCTAGCAATCAGCGAGACTCCGTGGGCGTAGGACCCTCCGAGCCAGGTGCGGGATATAATCTCCTGGTGCACCGTTTCCTAAGCCCATCGGAAAAGCGCGGTATTAGGGTGGGAGTGACCCGATATTCCAGGTGCTGTCTGTCACCCCTTTCCTTGACCAGCAAAGGGAACTCCCTGACCCCTTGCACTTCCCGAGTGAGGCAATGCCTCACCCTGCTTCGGCTCGC... |
Task1_train_8779 | A variant on Chromosome 4 in gene AFG2A (AFG2 AAA ATPase homolog A) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome | AAAGCTTAAGTGGCCAAATATATACTGTGAAAATTGGTTTCTTTTAACAAAAGATCAGATCCCTCCTTCAGCTGTACACATTTTTAAATAAAATCATATAGAACTAAAAAAAAATACTAACACGAACGATAGGTGATGAGCTAAAAAAAATTGCAAAAAAATCTCATAATATTTTAACAGACTTTACCAATTTGTGTTGGACTGAAGGTTGGCCAAGCTTGGTTTAGCTTAAGTTATATGGATTATTTGTACAACAGAATTGAGTTGATTTCTGCGGTATTTTGAAGAGTGAAAGTGGTTTTTTAAATTTGTACTGTACT... | AAAGCTTAAGTGGCCAAATATATACTGTGAAAATTGGTTTCTTTTAACAAAAGATCAGATCCCTCCTTCAGCTGTACACATTTTTAAATAAAATCATATAGAACTAAAAAAAAATACTAACACGAACGATAGGTGATGAGCTAAAAAAAATTGCAAAAAAATCTCATAATATTTTAACAGACTTTACCAATTTGTGTTGGACTGAAGGTTGGCCAAGCTTGGTTTAGCTTAAGTTATATGGATTATTTGTACAACAGAATTGAGTTGATTTCTGCGGTATTTTGAAGAGTGAAAGTGGTTTTTTAAATTTGTACTGTACT... |
Task1_train_8780 | Here’s a variant in FAT4 (FAT atypical cadherin 4) located on Chromosome 4. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Hennekam lymphangiectasia-lymphedema syndrome 2 | GCCTTGAAAAAGCTACTTAAACTTTCTAAACTTGAGCTTACTCATATACCAAATGGAGATGACAGCAGTGCTGATTTATGGGGATTAGATAAGACAGTTTATGTAAACTTCTTAAACCAGTGCATGCATATCTAAGGACTAAACAAATATTTACTGTTATTGATATTTCTTTCAATATGTTGCATGGAATTTTGACAGTCTTATTTGATGTGTTTCTTATCGTATCCTACATTCATATCTATTTTGTGTGTGTGAAATATTTGTTGCATAATTTTACCATTGCTTACAGTAAGCAAGTACTAAAAAGGCATTTACATTTT... | GCCTTGAAAAAGCTACTTAAACTTTCTAAACTTGAGCTTACTCATATACCAAATGGAGATGACAGCAGTGCTGATTTATGGGGATTAGATAAGACAGTTTATGTAAACTTCTTAAACCAGTGCATGCATATCTAAGGACTAAACAAATATTTACTGTTATTGATATTTCTTTCAATATGTTGCATGGAATTTTGACAGTCTTATTTGATGTGTTTCTTATCGTATCCTACATTCATATCTATTTTGTGTGTGTGAAATATTTGTTGCATAATTTTACCATTGCTTACAGTAAGCAAGTACTAAAAAGGCATTTACATTTT... |
Task1_train_8781 | This variant affects the gene FAT4 (FAT atypical cadherin 4) found on Chromosome 4. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Van Maldergem syndrome 2 | GCCTTGAAAAAGCTACTTAAACTTTCTAAACTTGAGCTTACTCATATACCAAATGGAGATGACAGCAGTGCTGATTTATGGGGATTAGATAAGACAGTTTATGTAAACTTCTTAAACCAGTGCATGCATATCTAAGGACTAAACAAATATTTACTGTTATTGATATTTCTTTCAATATGTTGCATGGAATTTTGACAGTCTTATTTGATGTGTTTCTTATCGTATCCTACATTCATATCTATTTTGTGTGTGTGAAATATTTGTTGCATAATTTTACCATTGCTTACAGTAAGCAAGTACTAAAAAGGCATTTACATTTT... | GCCTTGAAAAAGCTACTTAAACTTTCTAAACTTGAGCTTACTCATATACCAAATGGAGATGACAGCAGTGCTGATTTATGGGGATTAGATAAGACAGTTTATGTAAACTTCTTAAACCAGTGCATGCATATCTAAGGACTAAACAAATATTTACTGTTATTGATATTTCTTTCAATATGTTGCATGGAATTTTGACAGTCTTATTTGATGTGTTTCTTATCGTATCCTACATTCATATCTATTTTGTGTGTGTGAAATATTTGTTGCATAATTTTACCATTGCTTACAGTAAGCAAGTACTAAAAAGGCATTTACATTTT... |
Task1_train_8782 | The following genetic variant occurs in FAT4 (FAT atypical cadherin 4) on Chromosome 4. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Van Maldergem syndrome 2 | AGAACTTTATTTCACATTAAATAGTTTTACTTATAGACATACATATTCCTAAAAACTTGATACAGCTTTAAAAACAGGCAATAACTTGATTAATTATGAACTGTAAGGCTTTTTTATTTGATTATTAATTAGGTTTCTAGCAATAACTTAGGGATGTTAGAAATTACATATTTTATTTTAAAATTCCTTTTGTTCATTATCGAAGTTTGAAAAATTCTGAAAAAATACAAGGAAGAAAACAAAATTAACCTATAATCTAACCACCCAGAGACAACTACTCTTAGGTTATTGTCATGTTTTGACTGCTTAGTATCCCAAGA... | AGAACTTTATTTCACATTAAATAGTTTTACTTATAGACATACATATTCCTAAAAACTTGATACAGCTTTAAAAACAGGCAATAACTTGATTAATTATGAACTGTAAGGCTTTTTTATTTGATTATTAATTAGGTTTCTAGCAATAACTTAGGGATGTTAGAAATTACATATTTTATTTTAAAATTCCTTTTGTTCATTATCGAAGTTTGAAAAATTCTGAAAAAATACAAGGAAGAAAACAAAATTAACCTATAATCTAACCACCCAGAGACAACTACTCTTAGGTTATTGTCATGTTTTGACTGCTTAGTATCCCAAGA... |
Task1_train_8783 | Assess the clinical impact of this variant on gene FAT4 (FAT atypical cadherin 4), found on Chromosome 4. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Van Maldergem syndrome 2 | TTCATAGACCATTAATGGAGACAAACATTAATCAAATTCTTACACAAGTAACTGCATTATTCTAATGTGTGATAAATAATACAAATGAAGAATGTAGAATTCTAAAATATAGTGAAAAAAGAGAAAGGAAGGGGAATTTTGCTGTGGAATTGACATGTATACATAAATCTGAATGATGAGGAGGATGAAAGTGTACGAAAGGTTAATTTATGTTGATAGGAATTTTTTTAAAGAAATCGTTTAAGCCAAAGTTATAGAAGACAACACATTGGAGGCTAACATCATAGGCAAATGATGAAGTTGGAGAATGAAGCAACTTC... | TTCATAGACCATTAATGGAGACAAACATTAATCAAATTCTTACACAAGTAACTGCATTATTCTAATGTGTGATAAATAATACAAATGAAGAATGTAGAATTCTAAAATATAGTGAAAAAAGAGAAAGGAAGGGGAATTTTGCTGTGGAATTGACATGTATACATAAATCTGAATGATGAGGAGGATGAAAGTGTACGAAAGGTTAATTTATGTTGATAGGAATTTTTTTAAAGAAATCGTTTAAGCCAAAGTTATAGAAGACAACACATTGGAGGCTAACATCATAGGCAAATGATGAAGTTGGAGAATGAAGCAACTTC... |
Task1_train_8784 | This mutation occurs in MFSD8 (major facilitator superfamily domain containing 8) on Chromosome 4. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Neuronal ceroid lipofuscinosis 7 | ACTAGTTCCTTTTATCAGCATTCAACTTATGTAGAGGTAGAAGTTAAACATACAGTGTTATTTAGCCAACTTCAGGTAAACTCAGTAAATTGTTAGATTAAAGCCATTTTGCCTCAAATACTTATTAGCCTGACTAGTTTGGGGCTGTCAGGGATCATCCAAATTAAAAATCCAACTAAAATTCTGCAGCTCTACACAACTATGCAGACATAGATTGAAAACTGTTGTGTTCCTCCCCGCCACTACTGAGAGATGGGAAAAATTAAAGTAAATTAATTAATGTTTTACTAATTAAATGTTTTTCTCCAGTTTAAGGGGGT... | ACTAGTTCCTTTTATCAGCATTCAACTTATGTAGAGGTAGAAGTTAAACATACAGTGTTATTTAGCCAACTTCAGGTAAACTCAGTAAATTGTTAGATTAAAGCCATTTTGCCTCAAATACTTATTAGCCTGACTAGTTTGGGGCTGTCAGGGATCATCCAAATTAAAAATCCAACTAAAATTCTGCAGCTCTACACAACTATGCAGACATAGATTGAAAACTGTTGTGTTCCTCCCCGCCACTACTGAGAGATGGGAAAAATTAAAGTAAATTAATTAATGTTTTACTAATTAAATGTTTTTCTCCAGTTTAAGGGGGT... |
Task1_train_8785 | The gene MFSD8 (major facilitator superfamily domain containing 8), on Chromosome 4, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Neuronal ceroid lipofuscinosis 7 | CCAACTTCAGGTAAACTCAGTAAATTGTTAGATTAAAGCCATTTTGCCTCAAATACTTATTAGCCTGACTAGTTTGGGGCTGTCAGGGATCATCCAAATTAAAAATCCAACTAAAATTCTGCAGCTCTACACAACTATGCAGACATAGATTGAAAACTGTTGTGTTCCTCCCCGCCACTACTGAGAGATGGGAAAAATTAAAGTAAATTAATTAATGTTTTACTAATTAAATGTTTTTCTCCAGTTTAAGGGGGTTGAAAAATAGCAATAATTTTAAGAAACCATTTACTGTTTTGTATATATATATATAAAATAACACA... | CCAACTTCAGGTAAACTCAGTAAATTGTTAGATTAAAGCCATTTTGCCTCAAATACTTATTAGCCTGACTAGTTTGGGGCTGTCAGGGATCATCCAAATTAAAAATCCAACTAAAATTCTGCAGCTCTACACAACTATGCAGACATAGATTGAAAACTGTTGTGTTCCTCCCCGCCACTACTGAGAGATGGGAAAAATTAAAGTAAATTAATTAATGTTTTACTAATTAAATGTTTTTCTCCAGTTTAAGGGGGTTGAAAAATAGCAATAATTTTAAGAAACCATTTACTGTTTTGTATATATATATATAAAATAACACA... |
Task1_train_8786 | The gene MFSD8 (major facilitator superfamily domain containing 8) on Chromosome 4 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Neuronal ceroid lipofuscinosis 7 | TTTAAGAAACCATTTACTGTTTTGTATATATATATATAAAATAACACATATCTGGATTATGTTTCTAATGTGAATTTTTGGCATTTGAAAGAAAGTAGGTATCCCTATTAGGCTAATAGGCAGTGAAGTATCTTGATCTCTTAATCCTCTGTATTGCTCAAATATTAGCATTATCCATACTCATTTATTAATGTAGGGGTTACTTAGTGAAACCCTGAACTAAAATAAGGCAGAGGTGTAGTATTAGAAGAAAGACTCATAGAAGGCAAGGTAGGATGTTAGGCACGCTAAATGGAAAATATGTGTTATAATTTTTATTT... | TTTAAGAAACCATTTACTGTTTTGTATATATATATATAAAATAACACATATCTGGATTATGTTTCTAATGTGAATTTTTGGCATTTGAAAGAAAGTAGGTATCCCTATTAGGCTAATAGGCAGTGAAGTATCTTGATCTCTTAATCCTCTGTATTGCTCAAATATTAGCATTATCCATACTCATTTATTAATGTAGGGGTTACTTAGTGAAACCCTGAACTAAAATAAGGCAGAGGTGTAGTATTAGAAGAAAGACTCATAGAAGGCAAGGTAGGATGTTAGGCACGCTAAATGGAAAATATGTGTTATAATTTTTATTT... |
Task1_train_8787 | A variant was discovered in gene NAA15 (N-alpha-acetyltransferase 15, NatA auxiliary subunit), Chromosome 4. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Intellectual disability, autosomal dominant 50 | GGTGCATGCCACCATACCTGGGTGTTTTTTGTATTTTTAGTATAGACGAGATTTTGCAGTGTTGGCCAGGCTGGTCTCGAACTCGTGACTTGAAGTGATCCACCTACCACTGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTACCTGGCCAGATTGAAGTTTGAGCTTGATCTCAGAAAGAAACGTTATAAGTTTCTGGAAAGGGAAGTGGACTTCCGTTTTTCTTTTGAGTGTGTTTTAAAAAGATTATTTTGGGCCAGCCACAGTGACTCATGCCCATAATCCCAGCACTTTGGGAGGCTGAGGCAGCGA... | GGTGCATGCCACCATACCTGGGTGTTTTTTGTATTTTTAGTATAGACGAGATTTTGCAGTGTTGGCCAGGCTGGTCTCGAACTCGTGACTTGAAGTGATCCACCTACCACTGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTACCTGGCCAGATTGAAGTTTGAGCTTGATCTCAGAAAGAAACGTTATAAGTTTCTGGAAAGGGAAGTGGACTTCCGTTTTTCTTTTGAGTGTGTTTTAAAAAGATTATTTTGGGCCAGCCACAGTGACTCATGCCCATAATCCCAGCACTTTGGGAGGCTGAGGCAGCGA... |
Task1_train_8788 | This variant lies on Chromosome 4 and affects the gene NAA15 (N-alpha-acetyltransferase 15, NatA auxiliary subunit). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Intellectual disability, autosomal dominant 50 | TGGCTAAAGAAGCACTTTTGATTTTTTATTTATTTTTTTTATTAATTTTTTTATTTTTAGATTTTTTAAAAAAATTATACTTTAAGTTCTAGGGTACATGTGCACAACGTGCAGGTTTGTTACATAGGTATACATGTGCCAGGAAGCACTTTTTAAAACTAGATTATGGCTCATTAGTTTTGAAGCTTTGCCAGATGGACTAGTTAGGTAACTTAGAATGAGGAACATTGGGGAATGTCTACTAATGGTCCTAATCAGTAATGTTTCCATGGTTCCTTTAGCGTACAGATTTGGCTATGCCTTTTATGACTTTCACATTT... | TGGCTAAAGAAGCACTTTTGATTTTTTATTTATTTTTTTTATTAATTTTTTTATTTTTAGATTTTTTAAAAAAATTATACTTTAAGTTCTAGGGTACATGTGCACAACGTGCAGGTTTGTTACATAGGTATACATGTGCCAGGAAGCACTTTTTAAAACTAGATTATGGCTCATTAGTTTTGAAGCTTTGCCAGATGGACTAGTTAGGTAACTTAGAATGAGGAACATTGGGGAATGTCTACTAATGGTCCTAATCAGTAATGTTTCCATGGTTCCTTTAGCGTACAGATTTGGCTATGCCTTTTATGACTTTCACATTT... |
Task1_train_8789 | This sequence variant lies in NAA15 (N-alpha-acetyltransferase 15, NatA auxiliary subunit) on Chromosome 4. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Intellectual disability, autosomal dominant 50 | GTGTTGCATATACATTCTATTTTATTGGGTAGATATATGTGGTATACCTCTATTGTTCTCTTTCTTTGGATGGTTAAGCTAATCCCCTTAGCATTATTATTTTTTGAATAACAGTATCTCAAGTAGCTGTTCCCATTCTTCTAATAAAGTGCCACACCCTCTGCATATATATCTTGTTTGCCTTTTATATTTAAATAAGTAGAGGATAAGATGTTGGTTTTACCTTGAAATAAATTTCCTATTTCCCTCTCATTTAGCTGCCAAAATGGTATATTACTTAGATCCTTCTAGTCAGAAGCGAGCTATAGAGTTGGCAACAA... | GTGTTGCATATACATTCTATTTTATTGGGTAGATATATGTGGTATACCTCTATTGTTCTCTTTCTTTGGATGGTTAAGCTAATCCCCTTAGCATTATTATTTTTTGAATAACAGTATCTCAAGTAGCTGTTCCCATTCTTCTAATAAAGTGCCACACCCTCTGCATATATATCTTGTTTGCCTTTTATATTTAAATAAGTAGAGGATAAGATGTTGGTTTTACCTTGAAATAAATTTCCTATTTCCCTCTCATTTAGCTGCCAAAATGGTATATTACTTAGATCCTTCTAGTCAGAAGCGAGCTATAGAGTTGGCAACAA... |
Task1_train_8790 | Chromosome 4 houses a mutation in gene RAB33B (RAB33B, member RAS oncogene family). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Smith-McCort dysplasia 2 | TATTCAAAGATTAAATTAGCAATACCCCAAAATGTGTGTTAGAGTTAGCATAAAGAATTTCTGATGTAGTTTACCAAGAGCTAAACTAAAAAGTCCAGAATACAAAAAACAGGGATGCAATGATGTTAGTTTTTTTCACCATCCTTGAAATTCTCCCATTAACCACAGCTCTGAGTTTTCAACTGCTCTTTGTCCTTAAATCTTCAGATTCCCTCCTTTGAATGGGATAGGTAGAGCAGATTAGAAGAAATATATTCCGAGGCTCTCTAATAGTTTCTGGATGATTAACCTTCATGAAAATAACCTCACAGATAAGTAAT... | TATTCAAAGATTAAATTAGCAATACCCCAAAATGTGTGTTAGAGTTAGCATAAAGAATTTCTGATGTAGTTTACCAAGAGCTAAACTAAAAAGTCCAGAATACAAAAAACAGGGATGCAATGATGTTAGTTTTTTTCACCATCCTTGAAATTCTCCCATTAACCACAGCTCTGAGTTTTCAACTGCTCTTTGTCCTTAAATCTTCAGATTCCCTCCTTTGAATGGGATAGGTAGAGCAGATTAGAAGAAATATATTCCGAGGCTCTCTAATAGTTTCTGGATGATTAACCTTCATGAAAATAACCTCACAGATAAGTAAT... |
Task1_train_8791 | This alteration in RAB33B (RAB33B, member RAS oncogene family) on Chromosome 4 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Smith-McCort dysplasia 2 | GAGGTAAGGCCTGGAATGAGGGCCTCACAACTCTGACCAGTGTCCTATCCTGCTGTGGCTGAGCTGGTATCTAAGATCAAGAGAGCATCCTCCCCACTCTTCCCTCTCCTCTCCTCTCCTCTCCTCAAATGGAGGGAAGTGGTCTTTTTTGGAGCTGTGAGCTGTGCAGCCTGGGGTTAGGGGAGGGGTGATGGCAGCACTCCCTTGGCTGTCCCAGCTGGAGTCTCAGTATGTCTCCTGTCTGCCCCAGCGCACTGTCTCTGGGCCAGTTTAGCACTCGGAGTTGCCTCAGAGTTGCAATGCTTGTGGCCTAGACTGCC... | GAGGTAAGGCCTGGAATGAGGGCCTCACAACTCTGACCAGTGTCCTATCCTGCTGTGGCTGAGCTGGTATCTAAGATCAAGAGAGCATCCTCCCCACTCTTCCCTCTCCTCTCCTCTCCTCTCCTCAAATGGAGGGAAGTGGTCTTTTTTGGAGCTGTGAGCTGTGCAGCCTGGGGTTAGGGGAGGGGTGATGGCAGCACTCCCTTGGCTGTCCCAGCTGGAGTCTCAGTATGTCTCCTGTCTGCCCCAGCGCACTGTCTCTGGGCCAGTTTAGCACTCGGAGTTGCCTCAGAGTTGCAATGCTTGTGGCCTAGACTGCC... |
Task1_train_8792 | This variant affects gene GAB1 (GRB2 associated binding protein 1) located on Chromosome 4. Evaluate its biological effect and specify any disease association. | Pathogenic; Autosomal recessive nonsyndromic hearing loss 26 | AGGTAGGAATAATGAATTATATACTTGTTTTTCTTCCCACAAGTAGCAAAGGGAATGTTTTATTCCACTGGGGGTTTTCGAGTCCTTCCACTTCCCAGAGCATCCCCACCACCCCGCTGCCCTTTTTTTTTTTTTTTTTTTTTTTTGAGGAGGAGTCTTCTTCTGTCCAGGCTGGAGCGCAGTGATCTCAGCTCACTGCAACTGCCAACTCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTAAGTAGCTGGGATTACAGGAACCTGCCACCACACCCAGCTAATTTTTGTATTTTTTAGTAGAGACGGGGTTTCACC... | AGGTAGGAATAATGAATTATATACTTGTTTTTCTTCCCACAAGTAGCAAAGGGAATGTTTTATTCCACTGGGGGTTTTCGAGTCCTTCCACTTCCCAGAGCATCCCCACCACCCCGCTGCCCTTTTTTTTTTTTTTTTTTTTTTTTGAGGAGGAGTCTTCTTCTGTCCAGGCTGGAGCGCAGTGATCTCAGCTCACTGCAACTGCCAACTCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTAAGTAGCTGGGATTACAGGAACCTGCCACCACACCCAGCTAATTTTTGTATTTTTTAGTAGAGACGGGGTTTCACC... |
Task1_train_8793 | A mutation on Chromosome 4 affecting SMARCA5 (SNF2 related chromatin remodeling ATPase 5) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Pes planus | ATTCAGTTGCTTGCAGAATTGGCTGTTGTGGTTTATGAAGTGAGGACTAAGGATACATTTAAAATGAAATTTCTTTTTTATGGATAACACTTATTTTTGTTTTTCTTTAGGCTCCTCGACCTCCAAAACAACCCAATGTTCAGGATTTCCAGTTCTTTCCTCCACGTTTATTTGAATTACTGGAAAAAGAAATTCTGTTTTACAGAAAAACTATTGGGTACAAGGTAATTGAAATTATCTGCCTTTCTGTTCATTCCTATCCAGAAATTATGGAAGGTATAAACATTAGTTATAAATATTTATCTAATTTGGACCTAGTG... | ATTCAGTTGCTTGCAGAATTGGCTGTTGTGGTTTATGAAGTGAGGACTAAGGATACATTTAAAATGAAATTTCTTTTTTATGGATAACACTTATTTTTGTTTTTCTTTAGGCTCCTCGACCTCCAAAACAACCCAATGTTCAGGATTTCCAGTTCTTTCCTCCACGTTTATTTGAATTACTGGAAAAAGAAATTCTGTTTTACAGAAAAACTATTGGGTACAAGGTAATTGAAATTATCTGCCTTTCTGTTCATTCCTATCCAGAAATTATGGAAGGTATAAACATTAGTTATAAATATTTATCTAATTTGGACCTAGTG... |
Task1_train_8794 | This variant lies on Chromosome 4 and affects the gene SMARCA5 (SNF2 related chromatin remodeling ATPase 5). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Delayed CNS myelination | ATTCAGTTGCTTGCAGAATTGGCTGTTGTGGTTTATGAAGTGAGGACTAAGGATACATTTAAAATGAAATTTCTTTTTTATGGATAACACTTATTTTTGTTTTTCTTTAGGCTCCTCGACCTCCAAAACAACCCAATGTTCAGGATTTCCAGTTCTTTCCTCCACGTTTATTTGAATTACTGGAAAAAGAAATTCTGTTTTACAGAAAAACTATTGGGTACAAGGTAATTGAAATTATCTGCCTTTCTGTTCATTCCTATCCAGAAATTATGGAAGGTATAAACATTAGTTATAAATATTTATCTAATTTGGACCTAGTG... | ATTCAGTTGCTTGCAGAATTGGCTGTTGTGGTTTATGAAGTGAGGACTAAGGATACATTTAAAATGAAATTTCTTTTTTATGGATAACACTTATTTTTGTTTTTCTTTAGGCTCCTCGACCTCCAAAACAACCCAATGTTCAGGATTTCCAGTTCTTTCCTCCACGTTTATTTGAATTACTGGAAAAAGAAATTCTGTTTTACAGAAAAACTATTGGGTACAAGGTAATTGAAATTATCTGCCTTTCTGTTCATTCCTATCCAGAAATTATGGAAGGTATAAACATTAGTTATAAATATTTATCTAATTTGGACCTAGTG... |
Task1_train_8795 | This alteration in SMARCA5 (SNF2 related chromatin remodeling ATPase 5) on Chromosome 4 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Global developmental delay | ATTCAGTTGCTTGCAGAATTGGCTGTTGTGGTTTATGAAGTGAGGACTAAGGATACATTTAAAATGAAATTTCTTTTTTATGGATAACACTTATTTTTGTTTTTCTTTAGGCTCCTCGACCTCCAAAACAACCCAATGTTCAGGATTTCCAGTTCTTTCCTCCACGTTTATTTGAATTACTGGAAAAAGAAATTCTGTTTTACAGAAAAACTATTGGGTACAAGGTAATTGAAATTATCTGCCTTTCTGTTCATTCCTATCCAGAAATTATGGAAGGTATAAACATTAGTTATAAATATTTATCTAATTTGGACCTAGTG... | ATTCAGTTGCTTGCAGAATTGGCTGTTGTGGTTTATGAAGTGAGGACTAAGGATACATTTAAAATGAAATTTCTTTTTTATGGATAACACTTATTTTTGTTTTTCTTTAGGCTCCTCGACCTCCAAAACAACCCAATGTTCAGGATTTCCAGTTCTTTCCTCCACGTTTATTTGAATTACTGGAAAAAGAAATTCTGTTTTACAGAAAAACTATTGGGTACAAGGTAATTGAAATTATCTGCCTTTCTGTTCATTCCTATCCAGAAATTATGGAAGGTATAAACATTAGTTATAAATATTTATCTAATTTGGACCTAGTG... |
Task1_train_8796 | The following genetic variant occurs in SMARCA5 (SNF2 related chromatin remodeling ATPase 5) on Chromosome 4. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Hypotonia | ATTCAGTTGCTTGCAGAATTGGCTGTTGTGGTTTATGAAGTGAGGACTAAGGATACATTTAAAATGAAATTTCTTTTTTATGGATAACACTTATTTTTGTTTTTCTTTAGGCTCCTCGACCTCCAAAACAACCCAATGTTCAGGATTTCCAGTTCTTTCCTCCACGTTTATTTGAATTACTGGAAAAAGAAATTCTGTTTTACAGAAAAACTATTGGGTACAAGGTAATTGAAATTATCTGCCTTTCTGTTCATTCCTATCCAGAAATTATGGAAGGTATAAACATTAGTTATAAATATTTATCTAATTTGGACCTAGTG... | ATTCAGTTGCTTGCAGAATTGGCTGTTGTGGTTTATGAAGTGAGGACTAAGGATACATTTAAAATGAAATTTCTTTTTTATGGATAACACTTATTTTTGTTTTTCTTTAGGCTCCTCGACCTCCAAAACAACCCAATGTTCAGGATTTCCAGTTCTTTCCTCCACGTTTATTTGAATTACTGGAAAAAGAAATTCTGTTTTACAGAAAAACTATTGGGTACAAGGTAATTGAAATTATCTGCCTTTCTGTTCATTCCTATCCAGAAATTATGGAAGGTATAAACATTAGTTATAAATATTTATCTAATTTGGACCTAGTG... |
Task1_train_8797 | With a mutation on Chromosome 4 in gene GYPA (glycophorin A (MNS blood group)), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; BLOOD GROUP ERIK | GTGCTTCCAGTTGAAGTAAATAGAATGGAAGGCTAGACATAAAGGTAAAATGGCTCATTTATTTGCCTAATTAATATTTAAAAGCCCTATTGTTGATAAAAAGTAAAAGTAGCATTTCCTCTTGCTGGTGTTGCCCAGCCTTCTTGACCACTTAGCTTGAATGTATGCGATAGTGATGAAGTTCTATGATGTGCTTTTTACCCTGTGAGCCGTGGACACAGCCAAGTGTGAAGGGAGGGTTGGAATGCAGAATAGCAAATGAGCACACACAGTGATACTCAAGTGAGGGGAAGGGATGTCCCTTCAGCAGAGGTTGTCAA... | GTGCTTCCAGTTGAAGTAAATAGAATGGAAGGCTAGACATAAAGGTAAAATGGCTCATTTATTTGCCTAATTAATATTTAAAAGCCCTATTGTTGATAAAAAGTAAAAGTAGCATTTCCTCTTGCTGGTGTTGCCCAGCCTTCTTGACCACTTAGCTTGAATGTATGCGATAGTGATGAAGTTCTATGATGTGCTTTTTACCCTGTGAGCCGTGGACACAGCCAAGTGTGAAGGGAGGGTTGGAATGCAGAATAGCAAATGAGCACACACAGTGATACTCAAGTGAGGGGAAGGGATGTCCCTTCAGCAGAGGTTGTCAA... |
Task1_train_8798 | A variant was discovered on Chromosome 4, affecting MMAA (metabolism of cobalamin associated A). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Methylmalonic aciduria, cblA type | CCGCCCCATAGAGAAAAAGTTGTTGTTTTTGGAAAACTGATGAGCACTTATAGTTCTACCAGTTTAAAAAATCTTAAACTATTCTTTTTTCCCTAATAGAATGTTAAGAAGCTAAAATTAATTTCATGTTCATCGGCCTTGAAGTGCCATTTACAGGTATACCTTGGAGCAATAATTTATTCCACCATGCCACAAGGTGCTTGAAAATCAACCAAAATTTACAAATACTCATAAACCCAAACTGGGTGAGTTATATATAACTGTAAATTTTAGTTTGCTACTGGAAGAATTATTACCAGTGTTTCATAACTTGGTGTAAT... | CCGCCCCATAGAGAAAAAGTTGTTGTTTTTGGAAAACTGATGAGCACTTATAGTTCTACCAGTTTAAAAAATCTTAAACTATTCTTTTTTCCCTAATAGAATGTTAAGAAGCTAAAATTAATTTCATGTTCATCGGCCTTGAAGTGCCATTTACAGGTATACCTTGGAGCAATAATTTATTCCACCATGCCACAAGGTGCTTGAAAATCAACCAAAATTTACAAATACTCATAAACCCAAACTGGGTGAGTTATATATAACTGTAAATTTTAGTTTGCTACTGGAAGAATTATTACCAGTGTTTCATAACTTGGTGTAAT... |
Task1_train_8799 | A variant has been detected on Chromosome 4 in MMAA (metabolism of cobalamin associated A). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Methylmalonic acidemia | AATCTTAAACTATTCTTTTTTCCCTAATAGAATGTTAAGAAGCTAAAATTAATTTCATGTTCATCGGCCTTGAAGTGCCATTTACAGGTATACCTTGGAGCAATAATTTATTCCACCATGCCACAAGGTGCTTGAAAATCAACCAAAATTTACAAATACTCATAAACCCAAACTGGGTGAGTTATATATAACTGTAAATTTTAGTTTGCTACTGGAAGAATTATTACCAGTGTTTCATAACTTGGTGTAATTAAAATAAAAGCTAAGGTTAATTGAGCTCTTACTGCATGGTAGACACTGTTCTAAGCTTTTTACAAGAA... | AATCTTAAACTATTCTTTTTTCCCTAATAGAATGTTAAGAAGCTAAAATTAATTTCATGTTCATCGGCCTTGAAGTGCCATTTACAGGTATACCTTGGAGCAATAATTTATTCCACCATGCCACAAGGTGCTTGAAAATCAACCAAAATTTACAAATACTCATAAACCCAAACTGGGTGAGTTATATATAACTGTAAATTTTAGTTTGCTACTGGAAGAATTATTACCAGTGTTTCATAACTTGGTGTAATTAAAATAAAAGCTAAGGTTAATTGAGCTCTTACTGCATGGTAGACACTGTTCTAAGCTTTTTACAAGAA... |
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