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_8600 | A genomic change on Chromosome 4 affects GNRHR (gonadotropin releasing hormone receptor). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Hypogonadotropic hypogonadism 7 with or without anosmia | TCTACATCAGCACCTCAAATTACCAACTACTTTACACATAGTTGTAATTACACAGATCTTATATTGCCAACAGTCATGTCCTAAAGCAAATGATTTTACTTCTCATAGCCTGCCTTCCCTCTCCCTTCTACAAACAAACAGGCAGACAAACAAACACTCCCCTTCCCACCGGATCATTTCAATGGTTTTACTATTTTAATTCCTAGGCTAAAAAAATTGGAACTTTATTTCCCCCTGCTCTATTATTAACTCTCTCAATCCAATTTGTTGTCAGGTTTTGTATTTTATTTGAAATGTCTCTTTTACTATCTATTCTCTTT... | TCTACATCAGCACCTCAAATTACCAACTACTTTACACATAGTTGTAATTACACAGATCTTATATTGCCAACAGTCATGTCCTAAAGCAAATGATTTTACTTCTCATAGCCTGCCTTCCCTCTCCCTTCTACAAACAAACAGGCAGACAAACAAACACTCCCCTTCCCACCGGATCATTTCAATGGTTTTACTATTTTAATTCCTAGGCTAAAAAAATTGGAACTTTATTTCCCCCTGCTCTATTATTAACTCTCTCAATCCAATTTGTTGTCAGGTTTTGTATTTTATTTGAAATGTCTCTTTTACTATCTATTCTCTTT... |
Task1_train_8601 | This variant impacts the gene GNRHR (gonadotropin releasing hormone receptor) on Chromosome 4. Is the change likely to result in a pathogenic outcome? | Pathogenic; Hypogonadotropic hypogonadism 7 with or without anosmia | TTACTTCTCATAGCCTGCCTTCCCTCTCCCTTCTACAAACAAACAGGCAGACAAACAAACACTCCCCTTCCCACCGGATCATTTCAATGGTTTTACTATTTTAATTCCTAGGCTAAAAAAATTGGAACTTTATTTCCCCCTGCTCTATTATTAACTCTCTCAATCCAATTTGTTGTCAGGTTTTGTATTTTATTTGAAATGTCTCTTTTACTATCTATTCTCTTTGATACCACCCTAGCCCCCTGATCACCTCATTGCCAGATGATTTTTAAAAAAGTCTTTGTTTTATTCCACTCCATTTGGGCCATTTGGGCCTACAT... | TTACTTCTCATAGCCTGCCTTCCCTCTCCCTTCTACAAACAAACAGGCAGACAAACAAACACTCCCCTTCCCACCGGATCATTTCAATGGTTTTACTATTTTAATTCCTAGGCTAAAAAAATTGGAACTTTATTTCCCCCTGCTCTATTATTAACTCTCTCAATCCAATTTGTTGTCAGGTTTTGTATTTTATTTGAAATGTCTCTTTTACTATCTATTCTCTTTGATACCACCCTAGCCCCCTGATCACCTCATTGCCAGATGATTTTTAAAAAAGTCTTTGTTTTATTCCACTCCATTTGGGCCATTTGGGCCTACAT... |
Task1_train_8602 | A variant has been detected on Chromosome 4 in GNRHR (gonadotropin releasing hormone receptor). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Hypogonadotropic hypogonadism | TTACTTCTCATAGCCTGCCTTCCCTCTCCCTTCTACAAACAAACAGGCAGACAAACAAACACTCCCCTTCCCACCGGATCATTTCAATGGTTTTACTATTTTAATTCCTAGGCTAAAAAAATTGGAACTTTATTTCCCCCTGCTCTATTATTAACTCTCTCAATCCAATTTGTTGTCAGGTTTTGTATTTTATTTGAAATGTCTCTTTTACTATCTATTCTCTTTGATACCACCCTAGCCCCCTGATCACCTCATTGCCAGATGATTTTTAAAAAAGTCTTTGTTTTATTCCACTCCATTTGGGCCATTTGGGCCTACAT... | TTACTTCTCATAGCCTGCCTTCCCTCTCCCTTCTACAAACAAACAGGCAGACAAACAAACACTCCCCTTCCCACCGGATCATTTCAATGGTTTTACTATTTTAATTCCTAGGCTAAAAAAATTGGAACTTTATTTCCCCCTGCTCTATTATTAACTCTCTCAATCCAATTTGTTGTCAGGTTTTGTATTTTATTTGAAATGTCTCTTTTACTATCTATTCTCTTTGATACCACCCTAGCCCCCTGATCACCTCATTGCCAGATGATTTTTAAAAAAGTCTTTGTTTTATTCCACTCCATTTGGGCCATTTGGGCCTACAT... |
Task1_train_8603 | A change on Chromosome 4 affects gene GNRHR (gonadotropin releasing hormone receptor). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Hypogonadotropic hypogonadism 7 with or without anosmia | TACTTCTCATAGCCTGCCTTCCCTCTCCCTTCTACAAACAAACAGGCAGACAAACAAACACTCCCCTTCCCACCGGATCATTTCAATGGTTTTACTATTTTAATTCCTAGGCTAAAAAAATTGGAACTTTATTTCCCCCTGCTCTATTATTAACTCTCTCAATCCAATTTGTTGTCAGGTTTTGTATTTTATTTGAAATGTCTCTTTTACTATCTATTCTCTTTGATACCACCCTAGCCCCCTGATCACCTCATTGCCAGATGATTTTTAAAAAAGTCTTTGTTTTATTCCACTCCATTTGGGCCATTTGGGCCTACATA... | TACTTCTCATAGCCTGCCTTCCCTCTCCCTTCTACAAACAAACAGGCAGACAAACAAACACTCCCCTTCCCACCGGATCATTTCAATGGTTTTACTATTTTAATTCCTAGGCTAAAAAAATTGGAACTTTATTTCCCCCTGCTCTATTATTAACTCTCTCAATCCAATTTGTTGTCAGGTTTTGTATTTTATTTGAAATGTCTCTTTTACTATCTATTCTCTTTGATACCACCCTAGCCCCCTGATCACCTCATTGCCAGATGATTTTTAAAAAAGTCTTTGTTTTATTCCACTCCATTTGGGCCATTTGGGCCTACATA... |
Task1_train_8604 | Here is a genetic alteration in GNRHR (gonadotropin releasing hormone receptor) on Chromosome 4. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Hypogonadotropic hypogonadism 7 with or without anosmia | TGCCTTCCCTCTCCCTTCTACAAACAAACAGGCAGACAAACAAACACTCCCCTTCCCACCGGATCATTTCAATGGTTTTACTATTTTAATTCCTAGGCTAAAAAAATTGGAACTTTATTTCCCCCTGCTCTATTATTAACTCTCTCAATCCAATTTGTTGTCAGGTTTTGTATTTTATTTGAAATGTCTCTTTTACTATCTATTCTCTTTGATACCACCCTAGCCCCCTGATCACCTCATTGCCAGATGATTTTTAAAAAAGTCTTTGTTTTATTCCACTCCATTTGGGCCATTTGGGCCTACATAAATTTTCCCAAAGC... | TGCCTTCCCTCTCCCTTCTACAAACAAACAGGCAGACAAACAAACACTCCCCTTCCCACCGGATCATTTCAATGGTTTTACTATTTTAATTCCTAGGCTAAAAAAATTGGAACTTTATTTCCCCCTGCTCTATTATTAACTCTCTCAATCCAATTTGTTGTCAGGTTTTGTATTTTATTTGAAATGTCTCTTTTACTATCTATTCTCTTTGATACCACCCTAGCCCCCTGATCACCTCATTGCCAGATGATTTTTAAAAAAGTCTTTGTTTTATTCCACTCCATTTGGGCCATTTGGGCCTACATAAATTTTCCCAAAGC... |
Task1_train_8605 | This alteration occurs within gene GNRHR (gonadotropin releasing hormone receptor) located on Chromosome 4. Is it associated with a disease or is it a benign variant? | Pathogenic; Hypogonadotropic hypogonadism 7 with or without anosmia | TCTCCCTTCTACAAACAAACAGGCAGACAAACAAACACTCCCCTTCCCACCGGATCATTTCAATGGTTTTACTATTTTAATTCCTAGGCTAAAAAAATTGGAACTTTATTTCCCCCTGCTCTATTATTAACTCTCTCAATCCAATTTGTTGTCAGGTTTTGTATTTTATTTGAAATGTCTCTTTTACTATCTATTCTCTTTGATACCACCCTAGCCCCCTGATCACCTCATTGCCAGATGATTTTTAAAAAAGTCTTTGTTTTATTCCACTCCATTTGGGCCATTTGGGCCTACATAAATTTTCCCAAAGCCTTTTTTTT... | TCTCCCTTCTACAAACAAACAGGCAGACAAACAAACACTCCCCTTCCCACCGGATCATTTCAATGGTTTTACTATTTTAATTCCTAGGCTAAAAAAATTGGAACTTTATTTCCCCCTGCTCTATTATTAACTCTCTCAATCCAATTTGTTGTCAGGTTTTGTATTTTATTTGAAATGTCTCTTTTACTATCTATTCTCTTTGATACCACCCTAGCCCCCTGATCACCTCATTGCCAGATGATTTTTAAAAAAGTCTTTGTTTTATTCCACTCCATTTGGGCCATTTGGGCCTACATAAATTTTCCCAAAGCCTTTTTTTT... |
Task1_train_8606 | This mutation is located in gene GNRHR (gonadotropin releasing hormone receptor) on Chromosome 4. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Hypogonadotropic hypogonadism 7 with or without anosmia | TTCTACAAACAAACAGGCAGACAAACAAACACTCCCCTTCCCACCGGATCATTTCAATGGTTTTACTATTTTAATTCCTAGGCTAAAAAAATTGGAACTTTATTTCCCCCTGCTCTATTATTAACTCTCTCAATCCAATTTGTTGTCAGGTTTTGTATTTTATTTGAAATGTCTCTTTTACTATCTATTCTCTTTGATACCACCCTAGCCCCCTGATCACCTCATTGCCAGATGATTTTTAAAAAAGTCTTTGTTTTATTCCACTCCATTTGGGCCATTTGGGCCTACATAAATTTTCCCAAAGCCTTTTTTTTTTCTTT... | TTCTACAAACAAACAGGCAGACAAACAAACACTCCCCTTCCCACCGGATCATTTCAATGGTTTTACTATTTTAATTCCTAGGCTAAAAAAATTGGAACTTTATTTCCCCCTGCTCTATTATTAACTCTCTCAATCCAATTTGTTGTCAGGTTTTGTATTTTATTTGAAATGTCTCTTTTACTATCTATTCTCTTTGATACCACCCTAGCCCCCTGATCACCTCATTGCCAGATGATTTTTAAAAAAGTCTTTGTTTTATTCCACTCCATTTGGGCCATTTGGGCCTACATAAATTTTCCCAAAGCCTTTTTTTTTTCTTT... |
Task1_train_8607 | Mutation context: Chromosome 4, Gene GNRHR (gonadotropin releasing hormone receptor). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Hypogonadotropic hypogonadism 7 with or without anosmia | ATTTTCCCAAAGCCTTTTTTTTTTCTTTTTTGAGACAGGTTCTCATTCTGTCACCGAGATTGCAGTGCAGTTGCAGTGATGCATCATGGCTCTCTGCAACCTCTGCCTCCCAGGCTCAAGCGATTCTCCCACCTCAGCCTCCCAAGTAGCTGGGACCACAGGTGCGGGTCATCATGACCAGCATTTAAGCAATTTTTTTTTTAATAATTTGTTGATATGGGGCCTCCCTATATTGCCCAGTCTGGTCTCGAACTCCTGGGCTCAAGTGATCCTCCCACCACAACCTCCCTCCCAACCTCCCAGGTAACTTGGACCATAGG... | ATTTTCCCAAAGCCTTTTTTTTTTCTTTTTTGAGACAGGTTCTCATTCTGTCACCGAGATTGCAGTGCAGTTGCAGTGATGCATCATGGCTCTCTGCAACCTCTGCCTCCCAGGCTCAAGCGATTCTCCCACCTCAGCCTCCCAAGTAGCTGGGACCACAGGTGCGGGTCATCATGACCAGCATTTAAGCAATTTTTTTTTTAATAATTTGTTGATATGGGGCCTCCCTATATTGCCCAGTCTGGTCTCGAACTCCTGGGCTCAAGTGATCCTCCCACCACAACCTCCCTCCCAACCTCCCAGGTAACTTGGACCATAGG... |
Task1_train_8608 | Chromosome 4 houses a mutation in gene SLC4A4 (solute carrier family 4 member 4). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Autosomal recessive proximal renal tubular acidosis | TTGAATTGAAACATGACCATCTGTAGTCAGGCAAACGAAATTGAGAAATGTGACCAGTACTTATGTTTCTCAATGGGATTAAAGCATTATTTTGCTTTAATCATTAAATATATTTTGTGCATGTTGCACTCAAATCAGTGATCAGTCCCTTTAGAAAAATACACTTTACAGTCCTAAAGAAGCACTTTATAATACTATACGTAGTGGCATATAATTAGGGGCCAGCTTCGAAGGGACAAAAGTTCTAGTGTCAATTGAACTTCAGTGTTAAAAGAGCTGAAATTCAATTCAAATAATGACTTCCTTCATACTTGAACAGA... | TTGAATTGAAACATGACCATCTGTAGTCAGGCAAACGAAATTGAGAAATGTGACCAGTACTTATGTTTCTCAATGGGATTAAAGCATTATTTTGCTTTAATCATTAAATATATTTTGTGCATGTTGCACTCAAATCAGTGATCAGTCCCTTTAGAAAAATACACTTTACAGTCCTAAAGAAGCACTTTATAATACTATACGTAGTGGCATATAATTAGGGGCCAGCTTCGAAGGGACAAAAGTTCTAGTGTCAATTGAACTTCAGTGTTAAAAGAGCTGAAATTCAATTCAAATAATGACTTCCTTCATACTTGAACAGA... |
Task1_train_8609 | This mutation is located in gene LOC126807073, SLC4A4 (MED14-independent group 3 enhancer GRCh37_chr4:72338203-72339402| solute carrier family 4 member 4) on Chromosome 4. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Autosomal recessive proximal renal tubular acidosis | GATTTATTATAAAGAGTTGGCTCATGCAATTATAGAGGCTGACAAGGCTGACAGGCTGGAGACCCAGGGGAGCCAATGCTCCTATTTGAGTCTGAAGGCTGTCTGCTGTAGAACCAGGAAGAGCTGATGTTGTGGAAGTTCAAAGGCAGTCTGCTGGAGAATTCTCTGCTGCCCTGGGGAAGGTCAATCTTTTTTGTTTTATTCAGGCTTGCAACTGATTGGATGAGTTCCTCCCACATACTATGGAGGGTGATCTGCTTTACTCAAAGCCCACCAATTTGAATGTTTATTTCTCAAAAGACACCCTAACAGAAACACCC... | GATTTATTATAAAGAGTTGGCTCATGCAATTATAGAGGCTGACAAGGCTGACAGGCTGGAGACCCAGGGGAGCCAATGCTCCTATTTGAGTCTGAAGGCTGTCTGCTGTAGAACCAGGAAGAGCTGATGTTGTGGAAGTTCAAAGGCAGTCTGCTGGAGAATTCTCTGCTGCCCTGGGGAAGGTCAATCTTTTTTGTTTTATTCAGGCTTGCAACTGATTGGATGAGTTCCTCCCACATACTATGGAGGGTGATCTGCTTTACTCAAAGCCCACCAATTTGAATGTTTATTTCTCAAAAGACACCCTAACAGAAACACCC... |
Task1_train_8610 | A variant was discovered on Chromosome 4, affecting ADAMTS3 (ADAM metallopeptidase with thrombospondin type 1 motif 3). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Hennekam lymphangiectasia-lymphedema syndrome 3 | AGGATATTTTAATAATAATCAATTTTACCTGTGTGAAAGTCAAATGATACCATTTATGAGAATGGTTTTGTTATATTTGAGACAGAATCTCACAATTTTACCTGTGGGAAAGTCAAATTATACCATTTATGAGAATGGTTTTGTTTTGTTTGAGACAGAATCTCACTCTCTCACCCAGGCTGAAGTGCAGTGGCACCATCTGGACTCACTGCAACCTCTGCCTCTCGGGTTCAAGCAATTCTCATGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCACCACCATTCCTGGCTTTTTTTTTGTTTTTTTTTGTAT... | AGGATATTTTAATAATAATCAATTTTACCTGTGTGAAAGTCAAATGATACCATTTATGAGAATGGTTTTGTTATATTTGAGACAGAATCTCACAATTTTACCTGTGGGAAAGTCAAATTATACCATTTATGAGAATGGTTTTGTTTTGTTTGAGACAGAATCTCACTCTCTCACCCAGGCTGAAGTGCAGTGGCACCATCTGGACTCACTGCAACCTCTGCCTCTCGGGTTCAAGCAATTCTCATGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCACCACCATTCCTGGCTTTTTTTTTGTTTTTTTTTGTAT... |
Task1_train_8611 | Given a variant located on Chromosome 4 and affecting ADAMTS3 (ADAM metallopeptidase with thrombospondin type 1 motif 3), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Hennekam lymphangiectasia-lymphedema syndrome 3 | ACGAAGAATTACAAATGTTAAAAAAAAAAAAGTTGAAAACCTCTGTCCTAGATAAACCCCCTTGATCTTAAAATCAGCCCACAGGGAAATCACTGAGCTAGGTAACCCAGTAGAGCCATTAGCTAGTCAGTTCTTCCACTCACAACCAGTTCCCTCTGACGACAGTCCAGAGGAATTAGCAAGGAGATGCTGTTCTAGCAAGTTGAAAAAAATCCAATTTCTTTAGATTATGAAACACATCACATAAAGCCTACTAACCAAAAAAACCTTTATTTTGGCAAATTGTAGACCACAAAATATGATTGTGAGCTGCCACTACT... | ACGAAGAATTACAAATGTTAAAAAAAAAAAAGTTGAAAACCTCTGTCCTAGATAAACCCCCTTGATCTTAAAATCAGCCCACAGGGAAATCACTGAGCTAGGTAACCCAGTAGAGCCATTAGCTAGTCAGTTCTTCCACTCACAACCAGTTCCCTCTGACGACAGTCCAGAGGAATTAGCAAGGAGATGCTGTTCTAGCAAGTTGAAAAAAATCCAATTTCTTTAGATTATGAAACACATCACATAAAGCCTACTAACCAAAAAAACCTTTATTTTGGCAAATTGTAGACCACAAAATATGATTGTGAGCTGCCACTACT... |
Task1_train_8612 | The variant affects gene ALB (albumin), which is on Chromosome 4. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Ehlers-Danlos syndrome, arthrochalasia type | GAATTTGAGATTTTTTTAGGTTTCTTTGTATTTAACAATATATTACATTATAATGTTGTGGTGAAAACTAAATGGACTAATATTATTCTTTTCATTTGTTAAATGAAAAAGTATGCACAAAGTATATGTGAGAGTGACAAAGGCCTGAATTTGTCAATTAGTAACAATTGTATTCAACAGTAAGGATTTTATGTTTGGGTAGGCCTTTCCCAGGGACTTCTACAAGGAAAAAGCTAGAGTTGGTTACTGACTTCTAATAAATAATGCCTACAATTTCTAGGAAGTTAAAAGTTGACATAATTTATCCAAGAAAGAATTAT... | GAATTTGAGATTTTTTTAGGTTTCTTTGTATTTAACAATATATTACATTATAATGTTGTGGTGAAAACTAAATGGACTAATATTATTCTTTTCATTTGTTAAATGAAAAAGTATGCACAAAGTATATGTGAGAGTGACAAAGGCCTGAATTTGTCAATTAGTAACAATTGTATTCAACAGTAAGGATTTTATGTTTGGGTAGGCCTTTCCCAGGGACTTCTACAAGGAAAAAGCTAGAGTTGGTTACTGACTTCTAATAAATAATGCCTACAATTTCTAGGAAGTTAAAAGTTGACATAATTTATCCAAGAAAGAATTAT... |
Task1_train_8613 | A variant was discovered in gene ALB (albumin), Chromosome 4. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Alloalbuminemia | GAATTTGAGATTTTTTTAGGTTTCTTTGTATTTAACAATATATTACATTATAATGTTGTGGTGAAAACTAAATGGACTAATATTATTCTTTTCATTTGTTAAATGAAAAAGTATGCACAAAGTATATGTGAGAGTGACAAAGGCCTGAATTTGTCAATTAGTAACAATTGTATTCAACAGTAAGGATTTTATGTTTGGGTAGGCCTTTCCCAGGGACTTCTACAAGGAAAAAGCTAGAGTTGGTTACTGACTTCTAATAAATAATGCCTACAATTTCTAGGAAGTTAAAAGTTGACATAATTTATCCAAGAAAGAATTAT... | GAATTTGAGATTTTTTTAGGTTTCTTTGTATTTAACAATATATTACATTATAATGTTGTGGTGAAAACTAAATGGACTAATATTATTCTTTTCATTTGTTAAATGAAAAAGTATGCACAAAGTATATGTGAGAGTGACAAAGGCCTGAATTTGTCAATTAGTAACAATTGTATTCAACAGTAAGGATTTTATGTTTGGGTAGGCCTTTCCCAGGGACTTCTACAAGGAAAAAGCTAGAGTTGGTTACTGACTTCTAATAAATAATGCCTACAATTTCTAGGAAGTTAAAAGTTGACATAATTTATCCAAGAAAGAATTAT... |
Task1_train_8614 | Gene ALB (albumin) on Chromosome 4 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Alloalbuminemia | TTTGAGATTTTTTTAGGTTTCTTTGTATTTAACAATATATTACATTATAATGTTGTGGTGAAAACTAAATGGACTAATATTATTCTTTTCATTTGTTAAATGAAAAAGTATGCACAAAGTATATGTGAGAGTGACAAAGGCCTGAATTTGTCAATTAGTAACAATTGTATTCAACAGTAAGGATTTTATGTTTGGGTAGGCCTTTCCCAGGGACTTCTACAAGGAAAAAGCTAGAGTTGGTTACTGACTTCTAATAAATAATGCCTACAATTTCTAGGAAGTTAAAAGTTGACATAATTTATCCAAGAAAGAATTATTTT... | TTTGAGATTTTTTTAGGTTTCTTTGTATTTAACAATATATTACATTATAATGTTGTGGTGAAAACTAAATGGACTAATATTATTCTTTTCATTTGTTAAATGAAAAAGTATGCACAAAGTATATGTGAGAGTGACAAAGGCCTGAATTTGTCAATTAGTAACAATTGTATTCAACAGTAAGGATTTTATGTTTGGGTAGGCCTTTCCCAGGGACTTCTACAAGGAAAAAGCTAGAGTTGGTTACTGACTTCTAATAAATAATGCCTACAATTTCTAGGAAGTTAAAAGTTGACATAATTTATCCAAGAAAGAATTATTTT... |
Task1_train_8615 | A mutation found in ALB (albumin) on Chromosome 4 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Hyperthyroxinemia, familial dysalbuminemic | CCCAAAGACCTATCCATTGCACTATGCTTTATTTAAAAACCACAAAACCTGTGCTGTTGATCTCATAAATAGAACTTGTATTTATATTTATTTTCATTTTAGTCTGTCTTCTTGGTTGCTGTTGATAGACACTAAAAGAGTATTAGATATTATCTAAGTTTGAATATAAGGCTATAAATATTTAATAATTTTTAAAATAGTATTCTTGGTAATTGAATTATTCTTCTGTTTAAAGGCAGAAGAAATAATTGAACATCATCCTGAGTTTTTCTGTAGGAATCAGAGCCCAATATTTTGAAACAAATGCATAATCTAAGTCA... | CCCAAAGACCTATCCATTGCACTATGCTTTATTTAAAAACCACAAAACCTGTGCTGTTGATCTCATAAATAGAACTTGTATTTATATTTATTTTCATTTTAGTCTGTCTTCTTGGTTGCTGTTGATAGACACTAAAAGAGTATTAGATATTATCTAAGTTTGAATATAAGGCTATAAATATTTAATAATTTTTAAAATAGTATTCTTGGTAATTGAATTATTCTTCTGTTTAAAGGCAGAAGAAATAATTGAACATCATCCTGAGTTTTTCTGTAGGAATCAGAGCCCAATATTTTGAAACAAATGCATAATCTAAGTCA... |
Task1_train_8616 | Gene ALB (albumin) on Chromosome 4 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Hyperthyroxinemia, familial dysalbuminemic | GAGGAGAGACTGAAATGAATTATACACAAAATTTAAAAATTAGCAAAATTGCAGCCCCTGGGATATTAGCGTACTCTTTCTCTGACTTTTCTCCCACTTTTAAGGCTCTTTTTCCTGGCAATGTTTCCAGTTGGTTTCTAACTACATAGGGAATTCCGCTGTGACCAGAATGATCGAATGATCTTTCCTTTTCTTAGAGAGCAAAATCATTATTCGCTAAAGGGAGTACTTGGGAATTTAGGCATAAATTATGCCTTCAAAATTTAATTTGGCACAGTCTCATCTGAGCTTATGGAGGGGTGTTTCATGTAGAATTTTTC... | GAGGAGAGACTGAAATGAATTATACACAAAATTTAAAAATTAGCAAAATTGCAGCCCCTGGGATATTAGCGTACTCTTTCTCTGACTTTTCTCCCACTTTTAAGGCTCTTTTTCCTGGCAATGTTTCCAGTTGGTTTCTAACTACATAGGGAATTCCGCTGTGACCAGAATGATCGAATGATCTTTCCTTTTCTTAGAGAGCAAAATCATTATTCGCTAAAGGGAGTACTTGGGAATTTAGGCATAAATTATGCCTTCAAAATTTAATTTGGCACAGTCTCATCTGAGCTTATGGAGGGGTGTTTCATGTAGAATTTTTC... |
Task1_train_8617 | Given this context: Chromosome 4, gene ALB (albumin) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; not specified | CTTGCTGAAAACACATGACTTCTTTTTTTCAGGCTATTAGTTCGTTACACCAAGAAAGTACCCCAAGTGTCAACTCCAACTCTTGTAGAGGTCTCAAGAAACCTAGGAAAAGTGGGCAGCAAATGTTGTAAACATCCTGAAGCAAAAAGAATGCCCTGTGCAGAAGACTATGTGAGTCTTTAAAAAAATATAATAAATTAATAATGAAAAAATTTTACCTTTAGATATTGATAATGCTAGCTTTCATAAGCAGAAGGAAGTAATGTGTGTGTGTGCATGTTTGTGTGCATGTGTGTGTGCATGCACGTGTGTGTATGTGT... | CTTGCTGAAAACACATGACTTCTTTTTTTCAGGCTATTAGTTCGTTACACCAAGAAAGTACCCCAAGTGTCAACTCCAACTCTTGTAGAGGTCTCAAGAAACCTAGGAAAAGTGGGCAGCAAATGTTGTAAACATCCTGAAGCAAAAAGAATGCCCTGTGCAGAAGACTATGTGAGTCTTTAAAAAAATATAATAAATTAATAATGAAAAAATTTTACCTTTAGATATTGATAATGCTAGCTTTCATAAGCAGAAGGAAGTAATGTGTGTGTGTGCATGTTTGTGTGCATGTGTGTGTGCATGCACGTGTGTGTATGTGT... |
Task1_train_8618 | A variant on Chromosome 4 in gene ALB (albumin) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; ALBUMIN B | GAGGTCTCAAGAAACCTAGGAAAAGTGGGCAGCAAATGTTGTAAACATCCTGAAGCAAAAAGAATGCCCTGTGCAGAAGACTATGTGAGTCTTTAAAAAAATATAATAAATTAATAATGAAAAAATTTTACCTTTAGATATTGATAATGCTAGCTTTCATAAGCAGAAGGAAGTAATGTGTGTGTGTGCATGTTTGTGTGCATGTGTGTGTGCATGCACGTGTGTGTATGTGTGATATTGGCAGTCAAGGCCCCGAGGATGATAATTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTTTGTTGTCCAGGCTGGAGTGCAG... | GAGGTCTCAAGAAACCTAGGAAAAGTGGGCAGCAAATGTTGTAAACATCCTGAAGCAAAAAGAATGCCCTGTGCAGAAGACTATGTGAGTCTTTAAAAAAATATAATAAATTAATAATGAAAAAATTTTACCTTTAGATATTGATAATGCTAGCTTTCATAAGCAGAAGGAAGTAATGTGTGTGTGTGCATGTTTGTGTGCATGTGTGTGTGCATGCACGTGTGTGTATGTGTGATATTGGCAGTCAAGGCCCCGAGGATGATAATTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTTTGTTGTCCAGGCTGGAGTGCAG... |
Task1_train_8619 | The gene ODAPH (odontogenesis associated phosphoprotein), on Chromosome 4, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Amelogenesis imperfecta hypomaturation type 2A4 | CAATCAGCCATAGCCAGAAGGTGCGTAGGACTGACAACTGACATTTCCAGGGTTCGTCGATGAAACAGAATATATGTATGAGGGACTGTGGACATAGGCAAGTAACAAGCGTATCCAATACAGCCAAGAAACCTGAATTCAACTGTCCCAAATGAGAGGGGAATCTAGTCCTTTATAAGTGCCTCAGCACTCTCAACTTCCTGTGGGAAGTTCTTTTTTTTTTTTTTTTTGAGACGGAGTTTTGCTCTCGTTGCCCAGGCTGGAGTGCAATGGCGCAATCTCGGCTCACCGCAACCTCCACCTCCCGGGTTCAAGCAATT... | CAATCAGCCATAGCCAGAAGGTGCGTAGGACTGACAACTGACATTTCCAGGGTTCGTCGATGAAACAGAATATATGTATGAGGGACTGTGGACATAGGCAAGTAACAAGCGTATCCAATACAGCCAAGAAACCTGAATTCAACTGTCCCAAATGAGAGGGGAATCTAGTCCTTTATAAGTGCCTCAGCACTCTCAACTTCCTGTGGGAAGTTCTTTTTTTTTTTTTTTTTGAGACGGAGTTTTGCTCTCGTTGCCCAGGCTGGAGTGCAATGGCGCAATCTCGGCTCACCGCAACCTCCACCTCCCGGGTTCAAGCAATT... |
Task1_train_8620 | This alteration occurs within gene ODAPH (odontogenesis associated phosphoprotein) located on Chromosome 4. Is it associated with a disease or is it a benign variant? | Pathogenic; ODAPH-related disorder | CTCTCAACTTCCTGTGGGAAGTTCTTTTTTTTTTTTTTTTTGAGACGGAGTTTTGCTCTCGTTGCCCAGGCTGGAGTGCAATGGCGCAATCTCGGCTCACCGCAACCTCCACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCACCACCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTACTGACCTCAGGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAAGGGAAGTTCATTTTATCA... | CTCTCAACTTCCTGTGGGAAGTTCTTTTTTTTTTTTTTTTTGAGACGGAGTTTTGCTCTCGTTGCCCAGGCTGGAGTGCAATGGCGCAATCTCGGCTCACCGCAACCTCCACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCACCACCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTACTGACCTCAGGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAAGGGAAGTTCATTTTATCA... |
Task1_train_8621 | This alteration occurs within gene NUP54 (nucleoporin 54) located on Chromosome 4. Is it associated with a disease or is it a benign variant? | Pathogenic; Dystonia 37, early-onset, with striatal lesions | AGTTTACGTAGTTCCTCAAAAAGTTAAACATAGTGTGCATATGACACAGCAATTTCACTCCTAGGTTTATACCCAAGAGAAATAGAAGTATATGTCCAAACAAACACTTGTAAATAAATTTTAATAGCAATATTATTCATAATAGCCAAAAAGGAGAACCACCAAAATGTCCATCAATTGAGTAAAATGTGGTATAGCCATATGATGGAATATTCAGCAATAAATGAATAATAATCATTTATTAGTACCTGAAGTACTATTACATGGTACAACACAGTTGAACTTTGAAAACATTATGCTAAGTAAAAGCCAGTCACAAA... | AGTTTACGTAGTTCCTCAAAAAGTTAAACATAGTGTGCATATGACACAGCAATTTCACTCCTAGGTTTATACCCAAGAGAAATAGAAGTATATGTCCAAACAAACACTTGTAAATAAATTTTAATAGCAATATTATTCATAATAGCCAAAAAGGAGAACCACCAAAATGTCCATCAATTGAGTAAAATGTGGTATAGCCATATGATGGAATATTCAGCAATAAATGAATAATAATCATTTATTAGTACCTGAAGTACTATTACATGGTACAACACAGTTGAACTTTGAAAACATTATGCTAAGTAAAAGCCAGTCACAAA... |
Task1_train_8622 | This variant affects the gene NUP54 (nucleoporin 54) found on Chromosome 4. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Dystonia 37, early-onset, with striatal lesions | TTCACTCCTAGGTTTATACCCAAGAGAAATAGAAGTATATGTCCAAACAAACACTTGTAAATAAATTTTAATAGCAATATTATTCATAATAGCCAAAAAGGAGAACCACCAAAATGTCCATCAATTGAGTAAAATGTGGTATAGCCATATGATGGAATATTCAGCAATAAATGAATAATAATCATTTATTAGTACCTGAAGTACTATTACATGGTACAACACAGTTGAACTTTGAAAACATTATGCTAAGTAAAAGCCAGTCACAAAAGACCATATATCGTTATGATTCCATTTATATGAGGTTTCCAGAACAGGCAAAC... | TTCACTCCTAGGTTTATACCCAAGAGAAATAGAAGTATATGTCCAAACAAACACTTGTAAATAAATTTTAATAGCAATATTATTCATAATAGCCAAAAAGGAGAACCACCAAAATGTCCATCAATTGAGTAAAATGTGGTATAGCCATATGATGGAATATTCAGCAATAAATGAATAATAATCATTTATTAGTACCTGAAGTACTATTACATGGTACAACACAGTTGAACTTTGAAAACATTATGCTAAGTAAAAGCCAGTCACAAAAGACCATATATCGTTATGATTCCATTTATATGAGGTTTCCAGAACAGGCAAAC... |
Task1_train_8623 | The gene FRAS1 (Fraser extracellular matrix complex subunit 1) on Chromosome 4 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Fraser syndrome 1 | GGGAACACATCCAGATGATCAACAGTTAGGATCACCAACAGTGTACAGAGAAAGACCTGTTTTTAACAGATTCCAGGGGCAGGAATCTGTTTTACCAACATGGATTTTCTAGAAATCACAATCTCTACTACAAGCGTTGAGATGAAACAAGACATTTTGGGGCCATGGGTGGTGCATTAGCGAGTACAAACAAATGCTTTGAATCCTACAGGGGAAGGTGGGAAGGCCCCGTAACCAGAACTCTTTCTTTTCTCTTTTCTAGATCTTACTCCTTTTTCATTTGAGGTGGGTAAATTGAGATTCGTGGGTTTTCTCCTGCC... | GGGAACACATCCAGATGATCAACAGTTAGGATCACCAACAGTGTACAGAGAAAGACCTGTTTTTAACAGATTCCAGGGGCAGGAATCTGTTTTACCAACATGGATTTTCTAGAAATCACAATCTCTACTACAAGCGTTGAGATGAAACAAGACATTTTGGGGCCATGGGTGGTGCATTAGCGAGTACAAACAAATGCTTTGAATCCTACAGGGGAAGGTGGGAAGGCCCCGTAACCAGAACTCTTTCTTTTCTCTTTTCTAGATCTTACTCCTTTTTCATTTGAGGTGGGTAAATTGAGATTCGTGGGTTTTCTCCTGCC... |
Task1_train_8624 | Given this variant in gene FRAS1 (Fraser extracellular matrix complex subunit 1) on Chromosome 4, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Fraser syndrome 1 | AAGCGCCTCAGTGCCTGAATCCCACCTGAGCATCATAGTATCTGAATGGTACCTGAGCTCTGAATGGTCCTGGAGCATCACAATAGCCCTGGTGCTCTATCCCAGGGGCTGGGCTCTGACCCATGCAGAGGTTCCCTTAAGAAACTGGGAGGTCCAATGAAAACATGCTGCAAATGTTTCTTCGATTAAAAGATACACAGTTAACACTACAGATGTTTTTAGATTAAAAGATATGCATTTAACATTTTCTTATGTAGTGAAAGAGGGTTCCTCATGCAGGATATGCCAGATAGAATGGTTTTGAAACTAGCTGGAGCTTA... | AAGCGCCTCAGTGCCTGAATCCCACCTGAGCATCATAGTATCTGAATGGTACCTGAGCTCTGAATGGTCCTGGAGCATCACAATAGCCCTGGTGCTCTATCCCAGGGGCTGGGCTCTGACCCATGCAGAGGTTCCCTTAAGAAACTGGGAGGTCCAATGAAAACATGCTGCAAATGTTTCTTCGATTAAAAGATACACAGTTAACACTACAGATGTTTTTAGATTAAAAGATATGCATTTAACATTTTCTTATGTAGTGAAAGAGGGTTCCTCATGCAGGATATGCCAGATAGAATGGTTTTGAAACTAGCTGGAGCTTA... |
Task1_train_8625 | This variant affects the gene ANTXR2 (ANTXR cell adhesion molecule 2) found on Chromosome 4. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Hyaline fibromatosis syndrome | ACAAATTTTGTTCAACTGAAAAGGATGTGTGGGCAACATAATTTCACATATTGAGAGTTAAAAACTCTTGAAACTTGAATTATAGGTTAGTTAGGGATGTGTGTATGCTCTTGGCTCTCATAAATATAAACCAATAATGTTCCTTTTAACTCAGGACCCATTCAGGGGCTCACTCACACATTTCCTTTCCTTTAAAAAGAGATCTCAATCTTTGGAACACTGGAATATTGAACTAACAAAAATCTGACATATTCCTAGTTTTTTAAAGCAAGAATATTATTTATTCAATTAAGGCTCACATACTAATATCCTTACTTTAT... | ACAAATTTTGTTCAACTGAAAAGGATGTGTGGGCAACATAATTTCACATATTGAGAGTTAAAAACTCTTGAAACTTGAATTATAGGTTAGTTAGGGATGTGTGTATGCTCTTGGCTCTCATAAATATAAACCAATAATGTTCCTTTTAACTCAGGACCCATTCAGGGGCTCACTCACACATTTCCTTTCCTTTAAAAAGAGATCTCAATCTTTGGAACACTGGAATATTGAACTAACAAAAATCTGACATATTCCTAGTTTTTTAAAGCAAGAATATTATTTATTCAATTAAGGCTCACATACTAATATCCTTACTTTAT... |
Task1_train_8626 | This variant lies on Chromosome 4 and affects the gene ANTXR2 (ANTXR cell adhesion molecule 2). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Hyaline fibromatosis syndrome | CAGGAAATTAATAAGCATTTGTGATGTTTCTGAGGACGGGAAGCCTTTCTGACATCCTGATACTCCACCATTAAAGGGCTCCCTTTATGCCTCGTAGAAAGTAACTCCATGATTTGAGATCTGTAGAGTCCAAGGCTTTAGAGTACCATGTATCTAGTCTCTGATCTAGTCACCTGATGATTGGCTCCTCTCCTTAATATCCAAAATGACAGTCAAAACCCATATTTGAGCACATTTCATTTTGCATATGTCTTTTTAAAAATCATACACTTTGACACTTCTGAGCCCTCTGGTCAATACTAAATGAAATTGCAAAGTGA... | CAGGAAATTAATAAGCATTTGTGATGTTTCTGAGGACGGGAAGCCTTTCTGACATCCTGATACTCCACCATTAAAGGGCTCCCTTTATGCCTCGTAGAAAGTAACTCCATGATTTGAGATCTGTAGAGTCCAAGGCTTTAGAGTACCATGTATCTAGTCTCTGATCTAGTCACCTGATGATTGGCTCCTCTCCTTAATATCCAAAATGACAGTCAAAACCCATATTTGAGCACATTTCATTTTGCATATGTCTTTTTAAAAATCATACACTTTGACACTTCTGAGCCCTCTGGTCAATACTAAATGAAATTGCAAAGTGA... |
Task1_train_8627 | Mutation context: Chromosome 4, Gene ANTXR2 (ANTXR cell adhesion molecule 2). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Hyaline fibromatosis syndrome | GTAAATAAAACTAATTATGTACGTTTTTTAGTTCTTCGAAAAGTCGTATGTAGTACTTTCTTTAATCTATGCCTGTTCCATACAGAATTCTTCTTTAACCACTTCTTCACCTTACTAATCCTGATTCATTTTCTATTTCAAACCTATAAATAATCAAAAGATCACGTATTTTGAATTACTAATAATCGATGGCCAGTCACAAAAGTTGATTTAACTTATTGTACCATTATTTATAGTAGAAGCAAGCACTAAAACTTGTTAGAGAGTGAGAGAATAGGCTGGAATGAAAGTTAACTGATCAAATATCTTGACAGACAATG... | GTAAATAAAACTAATTATGTACGTTTTTTAGTTCTTCGAAAAGTCGTATGTAGTACTTTCTTTAATCTATGCCTGTTCCATACAGAATTCTTCTTTAACCACTTCTTCACCTTACTAATCCTGATTCATTTTCTATTTCAAACCTATAAATAATCAAAAGATCACGTATTTTGAATTACTAATAATCGATGGCCAGTCACAAAAGTTGATTTAACTTATTGTACCATTATTTATAGTAGAAGCAAGCACTAAAACTTGTTAGAGAGTGAGAGAATAGGCTGGAATGAAAGTTAACTGATCAAATATCTTGACAGACAATG... |
Task1_train_8628 | This variant affects the gene ANTXR2 (ANTXR cell adhesion molecule 2) found on Chromosome 4. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Hyaline fibromatosis syndrome | TACTATGCAATTATAAAGTCCAATTCAAATTTAAGGCAAAATTATAGGTTTTGTATACTATGAGGGATGGAGCAATCTTTGCCCTTGAAAATACATGAAAGTTTACATTGCCTTTAATTTCTACAAAGTGGGCAAAAATCTCAAACTATCAATCACGTTGATAAAAATCTCAACCATTAATCAAACCAGGTTTGGTTGTAATGGCTCCTTCTTTCCACCTGCCAACTCTGCCAGATACTACGATGTTTCCCCAAAAGGTGACTTTCCTAAGAATAATTTACTCTTCCCTTTGTGAGCACATAGCTGAAATTTAACTGTAT... | TACTATGCAATTATAAAGTCCAATTCAAATTTAAGGCAAAATTATAGGTTTTGTATACTATGAGGGATGGAGCAATCTTTGCCCTTGAAAATACATGAAAGTTTACATTGCCTTTAATTTCTACAAAGTGGGCAAAAATCTCAAACTATCAATCACGTTGATAAAAATCTCAACCATTAATCAAACCAGGTTTGGTTGTAATGGCTCCTTCTTTCCACCTGCCAACTCTGCCAGATACTACGATGTTTCCCCAAAAGGTGACTTTCCTAAGAATAATTTACTCTTCCCTTTGTGAGCACATAGCTGAAATTTAACTGTAT... |
Task1_train_8629 | This mutation occurs in ANTXR2 (ANTXR cell adhesion molecule 2) on Chromosome 4. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Hyaline fibromatosis syndrome | TCCTATAAAACCTATAAAACTTTCAGGATATCAAGACAGTTAACTCCAGAATCAAAGGGTGAAAGTGTCTGAGACTTAAAATCTTAAACTTGAAACCACAAACCCAGTCTCACAGAGCCCAACATGCAAGAATTAATACCAAATGTCAGTTACAAACAAAATTCACATCTTTAGAATTACACTGTTTGCAATACCAAACAAATCTCTTCCTTAATCTCTTTCCTCTAGATAATGACCACCTGCACTGGATATTAAGATTACTTCTTATAGATTAAAAAAATATACAAGGTTATGAGCCCTTCCTGCCCCCAGAGAAATAC... | TCCTATAAAACCTATAAAACTTTCAGGATATCAAGACAGTTAACTCCAGAATCAAAGGGTGAAAGTGTCTGAGACTTAAAATCTTAAACTTGAAACCACAAACCCAGTCTCACAGAGCCCAACATGCAAGAATTAATACCAAATGTCAGTTACAAACAAAATTCACATCTTTAGAATTACACTGTTTGCAATACCAAACAAATCTCTTCCTTAATCTCTTTCCTCTAGATAATGACCACCTGCACTGGATATTAAGATTACTTCTTATAGATTAAAAAAATATACAAGGTTATGAGCCCTTCCTGCCCCCAGAGAAATAC... |
Task1_train_8630 | This alteration occurs within gene ANTXR2 (ANTXR cell adhesion molecule 2) located on Chromosome 4. Is it associated with a disease or is it a benign variant? | Pathogenic; Hyaline fibromatosis syndrome | TGCTTCTTTAAAATGTTGTAGTGATGTGATTCATTGCTTTTGATCAAAATCTACATGACACCCTTTTCACATTGAAGGATTAAATTAGAAAATTTATAAACAACTGTCTGTTCTGCCTTTGACATTTAGGGACATAGGATCTTGTTTGTTTTTCTTTCCTAGACAGTTTTACCTCAGACCCTGTCCAGAAATGAGTGTTAAACTTGGCTTCTTAAGCAAGGGACTGATGATTGAACATGGACAGGCATACATTTTTATAGGGATAACTTTACTGCTGCCAATAACTGAAAGCAAGGATTGCCTAGGCCTCTACAGATTGT... | TGCTTCTTTAAAATGTTGTAGTGATGTGATTCATTGCTTTTGATCAAAATCTACATGACACCCTTTTCACATTGAAGGATTAAATTAGAAAATTTATAAACAACTGTCTGTTCTGCCTTTGACATTTAGGGACATAGGATCTTGTTTGTTTTTCTTTCCTAGACAGTTTTACCTCAGACCCTGTCCAGAAATGAGTGTTAAACTTGGCTTCTTAAGCAAGGGACTGATGATTGAACATGGACAGGCATACATTTTTATAGGGATAACTTTACTGCTGCCAATAACTGAAAGCAAGGATTGCCTAGGCCTCTACAGATTGT... |
Task1_train_8631 | Gene PRDM8 (PR/SET domain 8) on Chromosome 4 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Early-onset Lafora body disease | GCTATATTTGGTCCCTGTGTCCTGAGCCATACTTCCCTATATGACAGCATAGCTTTCATAGCTCTCAAGTCTACTGACAAGAGAACAGTACCGTATATCTTTCGGGTAAGTCTCCACTGTAGCTGTGTAGGTGTATGAGGGTAATGTCCTGTTGGAAATGGACTAAAAATAATTATAATGACAAGTGGAGATAGGTTTTGCCTGTGGAAAAATGCAATAATGCAAGCAATCCCATTTCACACATCAAAAATTAGAAAAGGAAAATTAAACTCAAATTATTGTCAACTGATTTTTTGGAATAAATGACAAAATTTGATTTG... | GCTATATTTGGTCCCTGTGTCCTGAGCCATACTTCCCTATATGACAGCATAGCTTTCATAGCTCTCAAGTCTACTGACAAGAGAACAGTACCGTATATCTTTCGGGTAAGTCTCCACTGTAGCTGTGTAGGTGTATGAGGGTAATGTCCTGTTGGAAATGGACTAAAAATAATTATAATGACAAGTGGAGATAGGTTTTGCCTGTGGAAAAATGCAATAATGCAAGCAATCCCATTTCACACATCAAAAATTAGAAAAGGAAAATTAAACTCAAATTATTGTCAACTGATTTTTTGGAATAAATGACAAAATTTGATTTG... |
Task1_train_8632 | The variant affects gene FGF5 (fibroblast growth factor 5), which is on Chromosome 4. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Trichomegaly | AGCAGGAGAATTGCTTGAGCCTGGGAGATGGAGGTTGCAGTGAGCCAAGATAATGCCACTGCACTCCAGCCTGGCCAACAGAGCAAGAACCTGTCTCAAAAACAACAACAATAACAAAACAACAACAACAACAACAACAAAGAAACAAACAAAAAATACTTGCCTTCAGCCTGCTCGAGATCATATCCAGAGATTCACCAGTAGACTTGTGGAAGATCTACATATATGGCTTCATAACCTGCCAATGGAACTTTGTTGATTGAACTACACTTAAATATAAGTAACTCCAGTAAACTATTGTACATAAAGTGAATGTGCTG... | AGCAGGAGAATTGCTTGAGCCTGGGAGATGGAGGTTGCAGTGAGCCAAGATAATGCCACTGCACTCCAGCCTGGCCAACAGAGCAAGAACCTGTCTCAAAAACAACAACAATAACAAAACAACAACAACAACAACAACAAAGAAACAAACAAAAAATACTTGCCTTCAGCCTGCTCGAGATCATATCCAGAGATTCACCAGTAGACTTGTGGAAGATCTACATATATGGCTTCATAACCTGCCAATGGAACTTTGTTGATTGAACTACACTTAAATATAAGTAACTCCAGTAAACTATTGTACATAAAGTGAATGTGCTG... |
Task1_train_8633 | Given a variant located on Chromosome 4 and affecting SCD5 (stearoyl-CoA desaturase 5), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Hearing loss, autosomal dominant 79 | TGCTTGAGTTTCCTGGCCCATCCATCCCTACATGGTGACGGACCATCTTGTCCCCATTTCTGTCTACTCACAGAATCAACACTGGCCACGGCTTCCCTCATTACAGTCCTTTCAGAAGATGCAGGGCAAGAGGAGGGGAAAGCCATAGGAAGGGTTGGGGCACTGCCCCTCCTGTTTTCCAAGGCACTTTCTCCCTGCTTATGCAGTTATTCCCTGGCTAAATGTAGTGTTCACTCCACCTTCTATTGCTGCCATCAGTGCAAGTTGACAAGAACTTTGGGATCCCTGGGGTCTGAAAAACAGATGGCCCTAATGAAGTG... | TGCTTGAGTTTCCTGGCCCATCCATCCCTACATGGTGACGGACCATCTTGTCCCCATTTCTGTCTACTCACAGAATCAACACTGGCCACGGCTTCCCTCATTACAGTCCTTTCAGAAGATGCAGGGCAAGAGGAGGGGAAAGCCATAGGAAGGGTTGGGGCACTGCCCCTCCTGTTTTCCAAGGCACTTTCTCCCTGCTTATGCAGTTATTCCCTGGCTAAATGTAGTGTTCACTCCACCTTCTATTGCTGCCATCAGTGCAAGTTGACAAGAACTTTGGGATCCCTGGGGTCTGAAAAACAGATGGCCCTAATGAAGTG... |
Task1_train_8634 | Here is a variant affecting COQ2 (coenzyme Q2, polyprenyltransferase) on Chromosome 4. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Coenzyme Q10 deficiency, primary, 1 | CCAAAAGGTGGGAGGGTGGGAGGGGAGTGCAGGATGAAATACTGCCCATTAGGTCATACTACATATGGGTACACTAAAAGCCCAGACTTCACCACTACACACTATATCCATGTAACCTGACTGTAACTGTACCCCTAAATCCATAAAAACAAAAACATTTTTAAAGAAAAAAAAAGGACAGTGTGCATGTCTTGGCAAATTAAGGCATCCCAGTTGTGTCAGAGAAATGCTTTACCATACAGCTCCTGCCACTCTTCTACTACACCCCATATCCTCCAGCCACACACAGACCATGTAGTTGCTGCTATCAAACGCATACT... | CCAAAAGGTGGGAGGGTGGGAGGGGAGTGCAGGATGAAATACTGCCCATTAGGTCATACTACATATGGGTACACTAAAAGCCCAGACTTCACCACTACACACTATATCCATGTAACCTGACTGTAACTGTACCCCTAAATCCATAAAAACAAAAACATTTTTAAAGAAAAAAAAAGGACAGTGTGCATGTCTTGGCAAATTAAGGCATCCCAGTTGTGTCAGAGAAATGCTTTACCATACAGCTCCTGCCACTCTTCTACTACACCCCATATCCTCCAGCCACACACAGACCATGTAGTTGCTGCTATCAAACGCATACT... |
Task1_train_8635 | This variant impacts the gene COQ2 (coenzyme Q2, polyprenyltransferase) on Chromosome 4. Is the change likely to result in a pathogenic outcome? | Pathogenic; Multiple system atrophy 1, susceptibility to | CCAAAAGGTGGGAGGGTGGGAGGGGAGTGCAGGATGAAATACTGCCCATTAGGTCATACTACATATGGGTACACTAAAAGCCCAGACTTCACCACTACACACTATATCCATGTAACCTGACTGTAACTGTACCCCTAAATCCATAAAAACAAAAACATTTTTAAAGAAAAAAAAAGGACAGTGTGCATGTCTTGGCAAATTAAGGCATCCCAGTTGTGTCAGAGAAATGCTTTACCATACAGCTCCTGCCACTCTTCTACTACACCCCATATCCTCCAGCCACACACAGACCATGTAGTTGCTGCTATCAAACGCATACT... | CCAAAAGGTGGGAGGGTGGGAGGGGAGTGCAGGATGAAATACTGCCCATTAGGTCATACTACATATGGGTACACTAAAAGCCCAGACTTCACCACTACACACTATATCCATGTAACCTGACTGTAACTGTACCCCTAAATCCATAAAAACAAAAACATTTTTAAAGAAAAAAAAAGGACAGTGTGCATGTCTTGGCAAATTAAGGCATCCCAGTTGTGTCAGAGAAATGCTTTACCATACAGCTCCTGCCACTCTTCTACTACACCCCATATCCTCCAGCCACACACAGACCATGTAGTTGCTGCTATCAAACGCATACT... |
Task1_train_8636 | Here’s a variant in COQ2 (coenzyme Q2, polyprenyltransferase) located on Chromosome 4. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Coenzyme Q10 deficiency, primary, 1 | CCAAAAGGTGGGAGGGTGGGAGGGGAGTGCAGGATGAAATACTGCCCATTAGGTCATACTACATATGGGTACACTAAAAGCCCAGACTTCACCACTACACACTATATCCATGTAACCTGACTGTAACTGTACCCCTAAATCCATAAAAACAAAAACATTTTTAAAGAAAAAAAAAGGACAGTGTGCATGTCTTGGCAAATTAAGGCATCCCAGTTGTGTCAGAGAAATGCTTTACCATACAGCTCCTGCCACTCTTCTACTACACCCCATATCCTCCAGCCACACACAGACCATGTAGTTGCTGCTATCAAACGCATACT... | CCAAAAGGTGGGAGGGTGGGAGGGGAGTGCAGGATGAAATACTGCCCATTAGGTCATACTACATATGGGTACACTAAAAGCCCAGACTTCACCACTACACACTATATCCATGTAACCTGACTGTAACTGTACCCCTAAATCCATAAAAACAAAAACATTTTTAAAGAAAAAAAAAGGACAGTGTGCATGTCTTGGCAAATTAAGGCATCCCAGTTGTGTCAGAGAAATGCTTTACCATACAGCTCCTGCCACTCTTCTACTACACCCCATATCCTCCAGCCACACACAGACCATGTAGTTGCTGCTATCAAACGCATACT... |
Task1_train_8637 | Located on Chromosome 4, this mutation impacts WDFY3 (WD repeat and FYVE domain containing 3). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Microcephaly 18, primary, autosomal dominant | CTAAGAAAGGACGATTCGTTTAGATTTTCATAGTTGCGTCTACCCTCCCATAACCCACTAAATGGCAGGCAAAAGGAATATATAAATTTTGGACTTCTCTAAAGAGGAAATAATTTCTTAGCACTGAAAACAATAGCACCTTTAGAAATTAAAAAAATCAGATAAGTAAAAGTGAATCTCAATCACTTTACTTAGCTCTTCCCATATGTGAAAGGAGTTTTGGGTTACCAATCAACATCCACAGGCCCTTTATTTGAAGAACCACCCTCATTTCCCAGGTGCTCACGGGTAATATTACTGTACTGCAATGAGAAGCAATG... | CTAAGAAAGGACGATTCGTTTAGATTTTCATAGTTGCGTCTACCCTCCCATAACCCACTAAATGGCAGGCAAAAGGAATATATAAATTTTGGACTTCTCTAAAGAGGAAATAATTTCTTAGCACTGAAAACAATAGCACCTTTAGAAATTAAAAAAATCAGATAAGTAAAAGTGAATCTCAATCACTTTACTTAGCTCTTCCCATATGTGAAAGGAGTTTTGGGTTACCAATCAACATCCACAGGCCCTTTATTTGAAGAACCACCCTCATTTCCCAGGTGCTCACGGGTAATATTACTGTACTGCAATGAGAAGCAATG... |
Task1_train_8638 | Gene WDFY3 (WD repeat and FYVE domain containing 3) on Chromosome 4 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; not provided | ACTTGAAGCTTCTCTCTTTCCCCTTCCCTGCTTTATTTTACTGCATAGCACCATCACCTTCTAACATACTTCATGATTAGGTTATTTCTTTAGGTATTATCATCTGTCTTTTCCACTAGAATGTAGGAAATATAAAAGCAGAAATTTTCTTTTTATCCACTGCTATGTCCTGAACTGAATGTCACCTGGCACATAATAGGTCATTCGTTAAAAAGTTGAGTTGTAGCCTTAAAAACAGTAATTGTTTTCATTAGTTTTCTAAAGTTAAATTTCTTAATTGCCAATATAAATAAATTAATATGAATTATGTACTCATAACA... | ACTTGAAGCTTCTCTCTTTCCCCTTCCCTGCTTTATTTTACTGCATAGCACCATCACCTTCTAACATACTTCATGATTAGGTTATTTCTTTAGGTATTATCATCTGTCTTTTCCACTAGAATGTAGGAAATATAAAAGCAGAAATTTTCTTTTTATCCACTGCTATGTCCTGAACTGAATGTCACCTGGCACATAATAGGTCATTCGTTAAAAAGTTGAGTTGTAGCCTTAAAAACAGTAATTGTTTTCATTAGTTTTCTAAAGTTAAATTTCTTAATTGCCAATATAAATAAATTAATATGAATTATGTACTCATAACA... |
Task1_train_8639 | This mutation is located in gene DSPP (dentin sialophosphoprotein) on Chromosome 4. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Denticles | TAACTATCTGGGCACTTTGATTAGTTTTGATAAAAAATGAGATAACTCAGATTTCAAAAATCCACCTTGGGCTTTCAAACAAGGCTTCAATTAGGCTTTGCTTTTTAGTATTTTATTACTTACTATTACTTATTATTTATTGTCCCACATGAAATGAAATTTAGCAATCACTAATGATGCCAAATCTAATTGCTAAATGAAATGAAGCTAAATCTCATTTCATTAGTAACAATAAATGAAATAATCTGATGGAGCTTCACAAATTCTGAAGTCTTTGTTTCATGCTGAGATCACCTGGGCCATTTTTATTGTAGTCTTCG... | TAACTATCTGGGCACTTTGATTAGTTTTGATAAAAAATGAGATAACTCAGATTTCAAAAATCCACCTTGGGCTTTCAAACAAGGCTTCAATTAGGCTTTGCTTTTTAGTATTTTATTACTTACTATTACTTATTATTTATTGTCCCACATGAAATGAAATTTAGCAATCACTAATGATGCCAAATCTAATTGCTAAATGAAATGAAGCTAAATCTCATTTCATTAGTAACAATAAATGAAATAATCTGATGGAGCTTCACAAATTCTGAAGTCTTTGTTTCATGCTGAGATCACCTGGGCCATTTTTATTGTAGTCTTCG... |
Task1_train_8640 | Here is a genetic alteration in DSPP (dentin sialophosphoprotein) on Chromosome 4. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; not provided | GATAAAAAATGAGATAACTCAGATTTCAAAAATCCACCTTGGGCTTTCAAACAAGGCTTCAATTAGGCTTTGCTTTTTAGTATTTTATTACTTACTATTACTTATTATTTATTGTCCCACATGAAATGAAATTTAGCAATCACTAATGATGCCAAATCTAATTGCTAAATGAAATGAAGCTAAATCTCATTTCATTAGTAACAATAAATGAAATAATCTGATGGAGCTTCACAAATTCTGAAGTCTTTGTTTCATGCTGAGATCACCTGGGCCATTTTTATTGTAGTCTTCGAAGTCATTCACCTGCCTTGGAAACGGTG... | GATAAAAAATGAGATAACTCAGATTTCAAAAATCCACCTTGGGCTTTCAAACAAGGCTTCAATTAGGCTTTGCTTTTTAGTATTTTATTACTTACTATTACTTATTATTTATTGTCCCACATGAAATGAAATTTAGCAATCACTAATGATGCCAAATCTAATTGCTAAATGAAATGAAGCTAAATCTCATTTCATTAGTAACAATAAATGAAATAATCTGATGGAGCTTCACAAATTCTGAAGTCTTTGTTTCATGCTGAGATCACCTGGGCCATTTTTATTGTAGTCTTCGAAGTCATTCACCTGCCTTGGAAACGGTG... |
Task1_train_8641 | This variant affects the gene DSPP (dentin sialophosphoprotein) found on Chromosome 4. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Deafness, autosomal dominant nonsyndromic sensorineural 39, with dentinogenesis imperfecta 1 | AAAATGAGATAACTCAGATTTCAAAAATCCACCTTGGGCTTTCAAACAAGGCTTCAATTAGGCTTTGCTTTTTAGTATTTTATTACTTACTATTACTTATTATTTATTGTCCCACATGAAATGAAATTTAGCAATCACTAATGATGCCAAATCTAATTGCTAAATGAAATGAAGCTAAATCTCATTTCATTAGTAACAATAAATGAAATAATCTGATGGAGCTTCACAAATTCTGAAGTCTTTGTTTCATGCTGAGATCACCTGGGCCATTTTTATTGTAGTCTTCGAAGTCATTCACCTGCCTTGGAAACGGTGATAAC... | AAAATGAGATAACTCAGATTTCAAAAATCCACCTTGGGCTTTCAAACAAGGCTTCAATTAGGCTTTGCTTTTTAGTATTTTATTACTTACTATTACTTATTATTTATTGTCCCACATGAAATGAAATTTAGCAATCACTAATGATGCCAAATCTAATTGCTAAATGAAATGAAGCTAAATCTCATTTCATTAGTAACAATAAATGAAATAATCTGATGGAGCTTCACAAATTCTGAAGTCTTTGTTTCATGCTGAGATCACCTGGGCCATTTTTATTGTAGTCTTCGAAGTCATTCACCTGCCTTGGAAACGGTGATAAC... |
Task1_train_8642 | This mutation is located in gene DSPP (dentin sialophosphoprotein) on Chromosome 4. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; not provided | AAAATGAGATAACTCAGATTTCAAAAATCCACCTTGGGCTTTCAAACAAGGCTTCAATTAGGCTTTGCTTTTTAGTATTTTATTACTTACTATTACTTATTATTTATTGTCCCACATGAAATGAAATTTAGCAATCACTAATGATGCCAAATCTAATTGCTAAATGAAATGAAGCTAAATCTCATTTCATTAGTAACAATAAATGAAATAATCTGATGGAGCTTCACAAATTCTGAAGTCTTTGTTTCATGCTGAGATCACCTGGGCCATTTTTATTGTAGTCTTCGAAGTCATTCACCTGCCTTGGAAACGGTGATAAC... | AAAATGAGATAACTCAGATTTCAAAAATCCACCTTGGGCTTTCAAACAAGGCTTCAATTAGGCTTTGCTTTTTAGTATTTTATTACTTACTATTACTTATTATTTATTGTCCCACATGAAATGAAATTTAGCAATCACTAATGATGCCAAATCTAATTGCTAAATGAAATGAAGCTAAATCTCATTTCATTAGTAACAATAAATGAAATAATCTGATGGAGCTTCACAAATTCTGAAGTCTTTGTTTCATGCTGAGATCACCTGGGCCATTTTTATTGTAGTCTTCGAAGTCATTCACCTGCCTTGGAAACGGTGATAAC... |
Task1_train_8643 | An alteration has been detected in DSPP (dentin sialophosphoprotein) on Chromosome 4. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Dentinogenesis imperfecta type 3 | TTTCTGTGCTTTGCATTGGAATACAATAATCACCAAGACACTCTCCTGGGCCTCAGGAGCTTACAGGAAATCAGGGCAACACATAAGTAACTAGGCAATTTTAAACAGTGCAATGCGTTACCAGTGAGACGTGCAAACTTCCTTGGTATAAAAAGGAAAGAGATACCAAATACCCTTTGAAGTGGCGTCAGAGAGGGCTTCTCAGAGATAATTCTACCAAACTTCAGGATAATCCTGAGGTGCAGGTGTTGTTATTATTCCAGGTGGAGGGATAATAAACCTACTTAAATTTCTCAAGCTTACACAGCAAGTAGCAGGGG... | TTTCTGTGCTTTGCATTGGAATACAATAATCACCAAGACACTCTCCTGGGCCTCAGGAGCTTACAGGAAATCAGGGCAACACATAAGTAACTAGGCAATTTTAAACAGTGCAATGCGTTACCAGTGAGACGTGCAAACTTCCTTGGTATAAAAAGGAAAGAGATACCAAATACCCTTTGAAGTGGCGTCAGAGAGGGCTTCTCAGAGATAATTCTACCAAACTTCAGGATAATCCTGAGGTGCAGGTGTTGTTATTATTCCAGGTGGAGGGATAATAAACCTACTTAAATTTCTCAAGCTTACACAGCAAGTAGCAGGGG... |
Task1_train_8644 | A sequence alteration has been identified in DSPP (dentin sialophosphoprotein) on Chromosome 4. Is it disease-inducing or harmless? | Pathogenic; Dentinogenesis imperfecta type 2 | TTTCTGTGCTTTGCATTGGAATACAATAATCACCAAGACACTCTCCTGGGCCTCAGGAGCTTACAGGAAATCAGGGCAACACATAAGTAACTAGGCAATTTTAAACAGTGCAATGCGTTACCAGTGAGACGTGCAAACTTCCTTGGTATAAAAAGGAAAGAGATACCAAATACCCTTTGAAGTGGCGTCAGAGAGGGCTTCTCAGAGATAATTCTACCAAACTTCAGGATAATCCTGAGGTGCAGGTGTTGTTATTATTCCAGGTGGAGGGATAATAAACCTACTTAAATTTCTCAAGCTTACACAGCAAGTAGCAGGGG... | TTTCTGTGCTTTGCATTGGAATACAATAATCACCAAGACACTCTCCTGGGCCTCAGGAGCTTACAGGAAATCAGGGCAACACATAAGTAACTAGGCAATTTTAAACAGTGCAATGCGTTACCAGTGAGACGTGCAAACTTCCTTGGTATAAAAAGGAAAGAGATACCAAATACCCTTTGAAGTGGCGTCAGAGAGGGCTTCTCAGAGATAATTCTACCAAACTTCAGGATAATCCTGAGGTGCAGGTGTTGTTATTATTCCAGGTGGAGGGATAATAAACCTACTTAAATTTCTCAAGCTTACACAGCAAGTAGCAGGGG... |
Task1_train_8645 | A variant on Chromosome 4 in gene DSPP (dentin sialophosphoprotein) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Deafness, autosomal dominant nonsyndromic sensorineural 39, with dentinogenesis imperfecta 1 | TTTCTGTGCTTTGCATTGGAATACAATAATCACCAAGACACTCTCCTGGGCCTCAGGAGCTTACAGGAAATCAGGGCAACACATAAGTAACTAGGCAATTTTAAACAGTGCAATGCGTTACCAGTGAGACGTGCAAACTTCCTTGGTATAAAAAGGAAAGAGATACCAAATACCCTTTGAAGTGGCGTCAGAGAGGGCTTCTCAGAGATAATTCTACCAAACTTCAGGATAATCCTGAGGTGCAGGTGTTGTTATTATTCCAGGTGGAGGGATAATAAACCTACTTAAATTTCTCAAGCTTACACAGCAAGTAGCAGGGG... | TTTCTGTGCTTTGCATTGGAATACAATAATCACCAAGACACTCTCCTGGGCCTCAGGAGCTTACAGGAAATCAGGGCAACACATAAGTAACTAGGCAATTTTAAACAGTGCAATGCGTTACCAGTGAGACGTGCAAACTTCCTTGGTATAAAAAGGAAAGAGATACCAAATACCCTTTGAAGTGGCGTCAGAGAGGGCTTCTCAGAGATAATTCTACCAAACTTCAGGATAATCCTGAGGTGCAGGTGTTGTTATTATTCCAGGTGGAGGGATAATAAACCTACTTAAATTTCTCAAGCTTACACAGCAAGTAGCAGGGG... |
Task1_train_8646 | Gene DSPP (dentin sialophosphoprotein) on Chromosome 4 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Dentinogenesis imperfecta type 2 | TTCTGTGCTTTGCATTGGAATACAATAATCACCAAGACACTCTCCTGGGCCTCAGGAGCTTACAGGAAATCAGGGCAACACATAAGTAACTAGGCAATTTTAAACAGTGCAATGCGTTACCAGTGAGACGTGCAAACTTCCTTGGTATAAAAAGGAAAGAGATACCAAATACCCTTTGAAGTGGCGTCAGAGAGGGCTTCTCAGAGATAATTCTACCAAACTTCAGGATAATCCTGAGGTGCAGGTGTTGTTATTATTCCAGGTGGAGGGATAATAAACCTACTTAAATTTCTCAAGCTTACACAGCAAGTAGCAGGGGT... | TTCTGTGCTTTGCATTGGAATACAATAATCACCAAGACACTCTCCTGGGCCTCAGGAGCTTACAGGAAATCAGGGCAACACATAAGTAACTAGGCAATTTTAAACAGTGCAATGCGTTACCAGTGAGACGTGCAAACTTCCTTGGTATAAAAAGGAAAGAGATACCAAATACCCTTTGAAGTGGCGTCAGAGAGGGCTTCTCAGAGATAATTCTACCAAACTTCAGGATAATCCTGAGGTGCAGGTGTTGTTATTATTCCAGGTGGAGGGATAATAAACCTACTTAAATTTCTCAAGCTTACACAGCAAGTAGCAGGGGT... |
Task1_train_8647 | Consider a variant on Chromosome 4 in gene DMP1 (dentin matrix acidic phosphoprotein 1). Determine its clinical classification and disease relevance. | Pathogenic; not specified | CTATTGCAAATCAAAGAAAATGACTGAGGTGAGTCTCAATTATTTTTGGAGACTTATCTTGCCAAAATTGAGGATGCACCTGGGAAAAATGAACACAAAACTACCAGAAACATCTATGGTCCATGTTTGTTTACAAAGAGTCCGAGGACTTCAGTATTTAAAGGGGAAAGAACAGGCAATAGGAGAAAGGAAGGACAGATAAAAGAGGCAAGTGGTTGCATTCCTTTGAGTCTTTGTTTAGTGCTCACTGAGCCCACATTTTATATGTGAAAGGAGAGGGTAGAGGAATAGTCAATTATGCATTTGTCTCATGCTCAGTG... | CTATTGCAAATCAAAGAAAATGACTGAGGTGAGTCTCAATTATTTTTGGAGACTTATCTTGCCAAAATTGAGGATGCACCTGGGAAAAATGAACACAAAACTACCAGAAACATCTATGGTCCATGTTTGTTTACAAAGAGTCCGAGGACTTCAGTATTTAAAGGGGAAAGAACAGGCAATAGGAGAAAGGAAGGACAGATAAAAGAGGCAAGTGGTTGCATTCCTTTGAGTCTTTGTTTAGTGCTCACTGAGCCCACATTTTATATGTGAAAGGAGAGGGTAGAGGAATAGTCAATTATGCATTTGTCTCATGCTCAGTG... |
Task1_train_8648 | This sequence change occurs on Chromosome 4, altering DMP1 (dentin matrix acidic phosphoprotein 1). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Hypophosphatemic rickets, autosomal recessive, 1 | CTATTGCAAATCAAAGAAAATGACTGAGGTGAGTCTCAATTATTTTTGGAGACTTATCTTGCCAAAATTGAGGATGCACCTGGGAAAAATGAACACAAAACTACCAGAAACATCTATGGTCCATGTTTGTTTACAAAGAGTCCGAGGACTTCAGTATTTAAAGGGGAAAGAACAGGCAATAGGAGAAAGGAAGGACAGATAAAAGAGGCAAGTGGTTGCATTCCTTTGAGTCTTTGTTTAGTGCTCACTGAGCCCACATTTTATATGTGAAAGGAGAGGGTAGAGGAATAGTCAATTATGCATTTGTCTCATGCTCAGTG... | CTATTGCAAATCAAAGAAAATGACTGAGGTGAGTCTCAATTATTTTTGGAGACTTATCTTGCCAAAATTGAGGATGCACCTGGGAAAAATGAACACAAAACTACCAGAAACATCTATGGTCCATGTTTGTTTACAAAGAGTCCGAGGACTTCAGTATTTAAAGGGGAAAGAACAGGCAATAGGAGAAAGGAAGGACAGATAAAAGAGGCAAGTGGTTGCATTCCTTTGAGTCTTTGTTTAGTGCTCACTGAGCCCACATTTTATATGTGAAAGGAGAGGGTAGAGGAATAGTCAATTATGCATTTGTCTCATGCTCAGTG... |
Task1_train_8649 | A mutation in DMP1 (dentin matrix acidic phosphoprotein 1), located on Chromosome 4, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Hypophosphatemic rickets | TATTGCAAATCAAAGAAAATGACTGAGGTGAGTCTCAATTATTTTTGGAGACTTATCTTGCCAAAATTGAGGATGCACCTGGGAAAAATGAACACAAAACTACCAGAAACATCTATGGTCCATGTTTGTTTACAAAGAGTCCGAGGACTTCAGTATTTAAAGGGGAAAGAACAGGCAATAGGAGAAAGGAAGGACAGATAAAAGAGGCAAGTGGTTGCATTCCTTTGAGTCTTTGTTTAGTGCTCACTGAGCCCACATTTTATATGTGAAAGGAGAGGGTAGAGGAATAGTCAATTATGCATTTGTCTCATGCTCAGTGA... | TATTGCAAATCAAAGAAAATGACTGAGGTGAGTCTCAATTATTTTTGGAGACTTATCTTGCCAAAATTGAGGATGCACCTGGGAAAAATGAACACAAAACTACCAGAAACATCTATGGTCCATGTTTGTTTACAAAGAGTCCGAGGACTTCAGTATTTAAAGGGGAAAGAACAGGCAATAGGAGAAAGGAAGGACAGATAAAAGAGGCAAGTGGTTGCATTCCTTTGAGTCTTTGTTTAGTGCTCACTGAGCCCACATTTTATATGTGAAAGGAGAGGGTAGAGGAATAGTCAATTATGCATTTGTCTCATGCTCAGTGA... |
Task1_train_8650 | A mutation on Chromosome 4 affecting PKD2 (polycystin 2, transient receptor potential cation channel) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Polycystic kidney disease 2 | CAGAAAGTTTGGGATTTTGAAGCATTTTATATTTCAGATTTTCACATTAGAAATACTCAAGCTGTCCTTGCTCACAGTGGCCAAAAAAAAAGAAAGAAAGAAAAGAAATACTCAACCAGTAGTCCAGTAGTAGTTATCACTAGAAATGAATGAAAATCTATTGCAGTATTATTGAGTTTTTCCTAATTATTCCAGTGCAGATAAAAAGAAAAGAATAAAAAGGAAGAGAATAAAAACAGAGAGGCAACTCTGATATTTTAGTAAATTCTATTTATAGAAGGTCTTGAGTATTTCTTCTGCTTCCTCCCTTACTTTAAGGA... | CAGAAAGTTTGGGATTTTGAAGCATTTTATATTTCAGATTTTCACATTAGAAATACTCAAGCTGTCCTTGCTCACAGTGGCCAAAAAAAAAGAAAGAAAGAAAAGAAATACTCAACCAGTAGTCCAGTAGTAGTTATCACTAGAAATGAATGAAAATCTATTGCAGTATTATTGAGTTTTTCCTAATTATTCCAGTGCAGATAAAAAGAAAAGAATAAAAAGGAAGAGAATAAAAACAGAGAGGCAACTCTGATATTTTAGTAAATTCTATTTATAGAAGGTCTTGAGTATTTCTTCTGCTTCCTCCCTTACTTTAAGGA... |
Task1_train_8651 | This gene mutation involves PIGY, PYURF (phosphatidylinositol glycan anchor biosynthesis class Y| PIGY upstream open reading frame) on Chromosome 4. Is it associated with any clinical condition, or is it benign? | Pathogenic; Hyperphosphatasia with intellectual disability syndrome 6 | TGGGAGGCCGAGGCGGGTGGATCGCTTGAGCCCAGGAGTTGAGACCAGCCTGGACAACATGGTGAAACCCCATCTCTACAAAAAAATACAAAAAAAAAATTAGCCAGGCATGGTGGCACATGACTGTAGTCCCAGCTACTTGGGAGGCTGAGGTGGGAGAATCACTTGAACTCAGGAGGTGGAGGCTGCCGTGAGCCATGATCGTACCATGCCACTGCACTCCAGCCTGGGCAACAGAGTAAGACCCTGTCTCAAAAAAAAAAAAAGGAGGGGATTGGGTGGTCACCTAGTCCAATCTTGAATAAGAATTAGAAACTAAG... | TGGGAGGCCGAGGCGGGTGGATCGCTTGAGCCCAGGAGTTGAGACCAGCCTGGACAACATGGTGAAACCCCATCTCTACAAAAAAATACAAAAAAAAAATTAGCCAGGCATGGTGGCACATGACTGTAGTCCCAGCTACTTGGGAGGCTGAGGTGGGAGAATCACTTGAACTCAGGAGGTGGAGGCTGCCGTGAGCCATGATCGTACCATGCCACTGCACTCCAGCCTGGGCAACAGAGTAAGACCCTGTCTCAAAAAAAAAAAAAGGAGGGGATTGGGTGGTCACCTAGTCCAATCTTGAATAAGAATTAGAAACTAAG... |
Task1_train_8652 | A mutation found in SNCA (synuclein alpha) on Chromosome 4 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Lewy body dementia | CATTTTTGGTTATTTCACTACTGCCAGGGTGGTCCATGGGTGCAATCGCTGTAAATATTGCACATGCTGAAATCACCATGTCCTTACTGCCTAGCAACATTTCCCATAGTTTTCTGTGGAACACTAGTTTCATTCAACCCTAGTAACTAATGAAGAAAGTTTTCAATAATCAAAAAGTTTGAATAACCCTGATTTTAACTATGTAATGCAAATTTCTTTACTGTAGGACATCTCAGATTCCTTAATACGCTAAAGAGAAAATAAAGTATACAAAGTCTCCCAACATTGTACAATGTTAGAAACTTAAGATTGTGAGCCAC... | CATTTTTGGTTATTTCACTACTGCCAGGGTGGTCCATGGGTGCAATCGCTGTAAATATTGCACATGCTGAAATCACCATGTCCTTACTGCCTAGCAACATTTCCCATAGTTTTCTGTGGAACACTAGTTTCATTCAACCCTAGTAACTAATGAAGAAAGTTTTCAATAATCAAAAAGTTTGAATAACCCTGATTTTAACTATGTAATGCAAATTTCTTTACTGTAGGACATCTCAGATTCCTTAATACGCTAAAGAGAAAATAAAGTATACAAAGTCTCCCAACATTGTACAATGTTAGAAACTTAAGATTGTGAGCCAC... |
Task1_train_8653 | A mutation on Chromosome 4 affecting SNCA (synuclein alpha) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Autosomal dominant Parkinson disease 4 | CATTTTTGGTTATTTCACTACTGCCAGGGTGGTCCATGGGTGCAATCGCTGTAAATATTGCACATGCTGAAATCACCATGTCCTTACTGCCTAGCAACATTTCCCATAGTTTTCTGTGGAACACTAGTTTCATTCAACCCTAGTAACTAATGAAGAAAGTTTTCAATAATCAAAAAGTTTGAATAACCCTGATTTTAACTATGTAATGCAAATTTCTTTACTGTAGGACATCTCAGATTCCTTAATACGCTAAAGAGAAAATAAAGTATACAAAGTCTCCCAACATTGTACAATGTTAGAAACTTAAGATTGTGAGCCAC... | CATTTTTGGTTATTTCACTACTGCCAGGGTGGTCCATGGGTGCAATCGCTGTAAATATTGCACATGCTGAAATCACCATGTCCTTACTGCCTAGCAACATTTCCCATAGTTTTCTGTGGAACACTAGTTTCATTCAACCCTAGTAACTAATGAAGAAAGTTTTCAATAATCAAAAAGTTTGAATAACCCTGATTTTAACTATGTAATGCAAATTTCTTTACTGTAGGACATCTCAGATTCCTTAATACGCTAAAGAGAAAATAAAGTATACAAAGTCTCCCAACATTGTACAATGTTAGAAACTTAAGATTGTGAGCCAC... |
Task1_train_8654 | The gene SNCA (synuclein alpha), on Chromosome 4, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Autosomal dominant Parkinson disease 1 | CATTTTTGGTTATTTCACTACTGCCAGGGTGGTCCATGGGTGCAATCGCTGTAAATATTGCACATGCTGAAATCACCATGTCCTTACTGCCTAGCAACATTTCCCATAGTTTTCTGTGGAACACTAGTTTCATTCAACCCTAGTAACTAATGAAGAAAGTTTTCAATAATCAAAAAGTTTGAATAACCCTGATTTTAACTATGTAATGCAAATTTCTTTACTGTAGGACATCTCAGATTCCTTAATACGCTAAAGAGAAAATAAAGTATACAAAGTCTCCCAACATTGTACAATGTTAGAAACTTAAGATTGTGAGCCAC... | CATTTTTGGTTATTTCACTACTGCCAGGGTGGTCCATGGGTGCAATCGCTGTAAATATTGCACATGCTGAAATCACCATGTCCTTACTGCCTAGCAACATTTCCCATAGTTTTCTGTGGAACACTAGTTTCATTCAACCCTAGTAACTAATGAAGAAAGTTTTCAATAATCAAAAAGTTTGAATAACCCTGATTTTAACTATGTAATGCAAATTTCTTTACTGTAGGACATCTCAGATTCCTTAATACGCTAAAGAGAAAATAAAGTATACAAAGTCTCCCAACATTGTACAATGTTAGAAACTTAAGATTGTGAGCCAC... |
Task1_train_8655 | This alteration occurs within gene SNCA (synuclein alpha) located on Chromosome 4. Is it associated with a disease or is it a benign variant? | Pathogenic; Autosomal dominant Parkinson disease 4 | CATTTTTGGTTATTTCACTACTGCCAGGGTGGTCCATGGGTGCAATCGCTGTAAATATTGCACATGCTGAAATCACCATGTCCTTACTGCCTAGCAACATTTCCCATAGTTTTCTGTGGAACACTAGTTTCATTCAACCCTAGTAACTAATGAAGAAAGTTTTCAATAATCAAAAAGTTTGAATAACCCTGATTTTAACTATGTAATGCAAATTTCTTTACTGTAGGACATCTCAGATTCCTTAATACGCTAAAGAGAAAATAAAGTATACAAAGTCTCCCAACATTGTACAATGTTAGAAACTTAAGATTGTGAGCCAC... | CATTTTTGGTTATTTCACTACTGCCAGGGTGGTCCATGGGTGCAATCGCTGTAAATATTGCACATGCTGAAATCACCATGTCCTTACTGCCTAGCAACATTTCCCATAGTTTTCTGTGGAACACTAGTTTCATTCAACCCTAGTAACTAATGAAGAAAGTTTTCAATAATCAAAAAGTTTGAATAACCCTGATTTTAACTATGTAATGCAAATTTCTTTACTGTAGGACATCTCAGATTCCTTAATACGCTAAAGAGAAAATAAAGTATACAAAGTCTCCCAACATTGTACAATGTTAGAAACTTAAGATTGTGAGCCAC... |
Task1_train_8656 | This gene mutation involves SNCA (synuclein alpha) on Chromosome 4. Is it associated with any clinical condition, or is it benign? | Pathogenic; Lewy body dementia | CATTTTTGGTTATTTCACTACTGCCAGGGTGGTCCATGGGTGCAATCGCTGTAAATATTGCACATGCTGAAATCACCATGTCCTTACTGCCTAGCAACATTTCCCATAGTTTTCTGTGGAACACTAGTTTCATTCAACCCTAGTAACTAATGAAGAAAGTTTTCAATAATCAAAAAGTTTGAATAACCCTGATTTTAACTATGTAATGCAAATTTCTTTACTGTAGGACATCTCAGATTCCTTAATACGCTAAAGAGAAAATAAAGTATACAAAGTCTCCCAACATTGTACAATGTTAGAAACTTAAGATTGTGAGCCAC... | CATTTTTGGTTATTTCACTACTGCCAGGGTGGTCCATGGGTGCAATCGCTGTAAATATTGCACATGCTGAAATCACCATGTCCTTACTGCCTAGCAACATTTCCCATAGTTTTCTGTGGAACACTAGTTTCATTCAACCCTAGTAACTAATGAAGAAAGTTTTCAATAATCAAAAAGTTTGAATAACCCTGATTTTAACTATGTAATGCAAATTTCTTTACTGTAGGACATCTCAGATTCCTTAATACGCTAAAGAGAAAATAAAGTATACAAAGTCTCCCAACATTGTACAATGTTAGAAACTTAAGATTGTGAGCCAC... |
Task1_train_8657 | Here is a variant affecting SNCA (synuclein alpha) on Chromosome 4. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Autosomal dominant Parkinson disease 1 | CATTTTTGGTTATTTCACTACTGCCAGGGTGGTCCATGGGTGCAATCGCTGTAAATATTGCACATGCTGAAATCACCATGTCCTTACTGCCTAGCAACATTTCCCATAGTTTTCTGTGGAACACTAGTTTCATTCAACCCTAGTAACTAATGAAGAAAGTTTTCAATAATCAAAAAGTTTGAATAACCCTGATTTTAACTATGTAATGCAAATTTCTTTACTGTAGGACATCTCAGATTCCTTAATACGCTAAAGAGAAAATAAAGTATACAAAGTCTCCCAACATTGTACAATGTTAGAAACTTAAGATTGTGAGCCAC... | CATTTTTGGTTATTTCACTACTGCCAGGGTGGTCCATGGGTGCAATCGCTGTAAATATTGCACATGCTGAAATCACCATGTCCTTACTGCCTAGCAACATTTCCCATAGTTTTCTGTGGAACACTAGTTTCATTCAACCCTAGTAACTAATGAAGAAAGTTTTCAATAATCAAAAAGTTTGAATAACCCTGATTTTAACTATGTAATGCAAATTTCTTTACTGTAGGACATCTCAGATTCCTTAATACGCTAAAGAGAAAATAAAGTATACAAAGTCTCCCAACATTGTACAATGTTAGAAACTTAAGATTGTGAGCCAC... |
Task1_train_8658 | This mutation is located in gene SNCA (synuclein alpha) on Chromosome 4. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Autosomal dominant Parkinson disease 1 | TTGGTTATTTCACTACTGCCAGGGTGGTCCATGGGTGCAATCGCTGTAAATATTGCACATGCTGAAATCACCATGTCCTTACTGCCTAGCAACATTTCCCATAGTTTTCTGTGGAACACTAGTTTCATTCAACCCTAGTAACTAATGAAGAAAGTTTTCAATAATCAAAAAGTTTGAATAACCCTGATTTTAACTATGTAATGCAAATTTCTTTACTGTAGGACATCTCAGATTCCTTAATACGCTAAAGAGAAAATAAAGTATACAAAGTCTCCCAACATTGTACAATGTTAGAAACTTAAGATTGTGAGCCACTGTCC... | TTGGTTATTTCACTACTGCCAGGGTGGTCCATGGGTGCAATCGCTGTAAATATTGCACATGCTGAAATCACCATGTCCTTACTGCCTAGCAACATTTCCCATAGTTTTCTGTGGAACACTAGTTTCATTCAACCCTAGTAACTAATGAAGAAAGTTTTCAATAATCAAAAAGTTTGAATAACCCTGATTTTAACTATGTAATGCAAATTTCTTTACTGTAGGACATCTCAGATTCCTTAATACGCTAAAGAGAAAATAAAGTATACAAAGTCTCCCAACATTGTACAATGTTAGAAACTTAAGATTGTGAGCCACTGTCC... |
Task1_train_8659 | Assess the clinical impact of this variant on gene SNCA (synuclein alpha), found on Chromosome 4. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Lewy body dementia | TGCCAGGGTGGTCCATGGGTGCAATCGCTGTAAATATTGCACATGCTGAAATCACCATGTCCTTACTGCCTAGCAACATTTCCCATAGTTTTCTGTGGAACACTAGTTTCATTCAACCCTAGTAACTAATGAAGAAAGTTTTCAATAATCAAAAAGTTTGAATAACCCTGATTTTAACTATGTAATGCAAATTTCTTTACTGTAGGACATCTCAGATTCCTTAATACGCTAAAGAGAAAATAAAGTATACAAAGTCTCCCAACATTGTACAATGTTAGAAACTTAAGATTGTGAGCCACTGTCCTTCAGAAAACATTTTA... | TGCCAGGGTGGTCCATGGGTGCAATCGCTGTAAATATTGCACATGCTGAAATCACCATGTCCTTACTGCCTAGCAACATTTCCCATAGTTTTCTGTGGAACACTAGTTTCATTCAACCCTAGTAACTAATGAAGAAAGTTTTCAATAATCAAAAAGTTTGAATAACCCTGATTTTAACTATGTAATGCAAATTTCTTTACTGTAGGACATCTCAGATTCCTTAATACGCTAAAGAGAAAATAAAGTATACAAAGTCTCCCAACATTGTACAATGTTAGAAACTTAAGATTGTGAGCCACTGTCCTTCAGAAAACATTTTA... |
Task1_train_8660 | A mutation found in SNCA (synuclein alpha) on Chromosome 4 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Autosomal dominant Parkinson disease 1 | TGCCAGGGTGGTCCATGGGTGCAATCGCTGTAAATATTGCACATGCTGAAATCACCATGTCCTTACTGCCTAGCAACATTTCCCATAGTTTTCTGTGGAACACTAGTTTCATTCAACCCTAGTAACTAATGAAGAAAGTTTTCAATAATCAAAAAGTTTGAATAACCCTGATTTTAACTATGTAATGCAAATTTCTTTACTGTAGGACATCTCAGATTCCTTAATACGCTAAAGAGAAAATAAAGTATACAAAGTCTCCCAACATTGTACAATGTTAGAAACTTAAGATTGTGAGCCACTGTCCTTCAGAAAACATTTTA... | TGCCAGGGTGGTCCATGGGTGCAATCGCTGTAAATATTGCACATGCTGAAATCACCATGTCCTTACTGCCTAGCAACATTTCCCATAGTTTTCTGTGGAACACTAGTTTCATTCAACCCTAGTAACTAATGAAGAAAGTTTTCAATAATCAAAAAGTTTGAATAACCCTGATTTTAACTATGTAATGCAAATTTCTTTACTGTAGGACATCTCAGATTCCTTAATACGCTAAAGAGAAAATAAAGTATACAAAGTCTCCCAACATTGTACAATGTTAGAAACTTAAGATTGTGAGCCACTGTCCTTCAGAAAACATTTTA... |
Task1_train_8661 | A mutation on Chromosome 4 affecting GRID2 (glutamate ionotropic receptor delta type subunit 2) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Inborn genetic diseases | TATTTCCTCAAAGGTCTAGAGGCTGGAAGTCCAAGATCAAGGTGTCAGCCAGTTTGGTGCCTCCTGAGGCCTCTCCCCTTGGCTTGCAGATGGTCACCTTCTTGCTGTGTCCTCACATGGCCTTTCTTCCATGCATGTGCATCCCTGGTGTCTCTTCCTTTTCTGATAAGGACACCAGTCATATCGGATTAGAATCCATGCTTACAATCTCACTATACCTTGATTACTTAGTTAAAGGTCCTATCTCCAAATAACAATCACATTGTGGGTTAGAATTTCAGGACATGAATTTGAGAGAGAAATAATTTAGTCCATAACAC... | TATTTCCTCAAAGGTCTAGAGGCTGGAAGTCCAAGATCAAGGTGTCAGCCAGTTTGGTGCCTCCTGAGGCCTCTCCCCTTGGCTTGCAGATGGTCACCTTCTTGCTGTGTCCTCACATGGCCTTTCTTCCATGCATGTGCATCCCTGGTGTCTCTTCCTTTTCTGATAAGGACACCAGTCATATCGGATTAGAATCCATGCTTACAATCTCACTATACCTTGATTACTTAGTTAAAGGTCCTATCTCCAAATAACAATCACATTGTGGGTTAGAATTTCAGGACATGAATTTGAGAGAGAAATAATTTAGTCCATAACAC... |
Task1_train_8662 | A variant has been detected on Chromosome 4 in GRID2 (glutamate ionotropic receptor delta type subunit 2). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Autosomal recessive spinocerebellar ataxia 18 | TATCCTCCACTAAACAGGGGGATATATGTTTAAAATGTTCATGTTTATAATACAGTTTTACTGATACTACTGAAAACAGCAGTAAATTGCTCTCTTGAAACAAAATTTTTGTTGTTATAATATATCAAGATAATTATGGTATGACCTACAAGTAAATGTCCACTCACTTTGTTATTCAGTTGCATCCTAGCTACATACTCATTTTACTCTTGCTTTTGCCCTCAATTATTCATTTACATTATAGCTTTAGTTTACCTTTTACAAATGGTAGAATCCGTTCAATATTTTAGAATATTCCAGAAAATTCCAGAATCGCACTT... | TATCCTCCACTAAACAGGGGGATATATGTTTAAAATGTTCATGTTTATAATACAGTTTTACTGATACTACTGAAAACAGCAGTAAATTGCTCTCTTGAAACAAAATTTTTGTTGTTATAATATATCAAGATAATTATGGTATGACCTACAAGTAAATGTCCACTCACTTTGTTATTCAGTTGCATCCTAGCTACATACTCATTTTACTCTTGCTTTTGCCCTCAATTATTCATTTACATTATAGCTTTAGTTTACCTTTTACAAATGGTAGAATCCGTTCAATATTTTAGAATATTCCAGAAAATTCCAGAATCGCACTT... |
Task1_train_8663 | This variant lies on Chromosome 4 and affects the gene SMARCAD1 (SNF2 related chromatin remodeling ATPase with DExD box 1). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Adermatoglyphia | GATGGCCTCTGTCACGTATTCTTTGATTTTGTTTTTTAACAACCCTTTAAAAAATTATTAGGTCATAAGCCATAATTTACCTGTTCTATATGTTAAACTATTTATAAATAATCTTTCATCATCTCATAAAGGTGATACGAGGACACAAGTTACCTACTTATAAAAGAAGACCAATGGTTTTCGTATTCATTGCTGTTGATAATAGCGGACGTCAATTATTTAAATTACTATATCATTTATCACAGAATGTTAAATTATTAATAATGGTTTTAATTTATCTCTCCTCCCTTCACCTTTCACTGGGGAGGATAGACATGAAA... | GATGGCCTCTGTCACGTATTCTTTGATTTTGTTTTTTAACAACCCTTTAAAAAATTATTAGGTCATAAGCCATAATTTACCTGTTCTATATGTTAAACTATTTATAAATAATCTTTCATCATCTCATAAAGGTGATACGAGGACACAAGTTACCTACTTATAAAAGAAGACCAATGGTTTTCGTATTCATTGCTGTTGATAATAGCGGACGTCAATTATTTAAATTACTATATCATTTATCACAGAATGTTAAATTATTAATAATGGTTTTAATTTATCTCTCCTCCCTTCACCTTTCACTGGGGAGGATAGACATGAAA... |
Task1_train_8664 | Chromosome 4 houses a mutation in gene BMPR1B (bone morphogenetic protein receptor type 1B). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Acromesomelic dysplasia 3 | CAAAAATAAAGGGTCTGGTATGAAAGGAAGCAGGAAGTAATAAATTTTAAATACTCTATTTTTATTACTTGGTCTACTGAGGTGACTCAGGTCATAAAGGCAGTAACATTGAGAACCAGGTTTAGAAAGAAGGAGCTTACCATGACAGGGTGAGATATAGGTACACCTACACACTCTACCCTGGCATAGCAAGCGGTGCTGCACTCCCATGTGGACAAACTTGGAACAAATGGCTTTCAAGATAAGGCAGTGACGTGAACTATTTAACCTCACTTTATTTGGGAATTTAACCTAAGGACGAGCATACTATATAGAAATAA... | CAAAAATAAAGGGTCTGGTATGAAAGGAAGCAGGAAGTAATAAATTTTAAATACTCTATTTTTATTACTTGGTCTACTGAGGTGACTCAGGTCATAAAGGCAGTAACATTGAGAACCAGGTTTAGAAAGAAGGAGCTTACCATGACAGGGTGAGATATAGGTACACCTACACACTCTACCCTGGCATAGCAAGCGGTGCTGCACTCCCATGTGGACAAACTTGGAACAAATGGCTTTCAAGATAAGGCAGTGACGTGAACTATTTAACCTCACTTTATTTGGGAATTTAACCTAAGGACGAGCATACTATATAGAAATAA... |
Task1_train_8665 | A variant found in Chromosome 4 affects BMPR1B (bone morphogenetic protein receptor type 1B). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Acromesomelic dysplasia 3 | CTCTTTATATTTTTAGCTCCTCTCTCTTTGCAGACAAGGGGTGTGTATTTTTAAAGCTTGAATTTACTGTCTCTGATGTTTCTTTAAATTTCCTAGGACATCATAGCAGTAACTTGACAATAGCTTTACCAGCTTTTTCTGTTCCATTTCTTTTTTATTCTTAACAGTTGCCTAGAAGTGCATTTCTATTTACTCCTATTTTGAGTAAGAAGAACCCATGATAAGGAGAAATTAGTCTTTAGATTTAATTTAGGGTACTTCTCTAGCCCCTATACCTTCCTGATATCATAAAATTAGGATGACCATATTTTCCGGTAATT... | CTCTTTATATTTTTAGCTCCTCTCTCTTTGCAGACAAGGGGTGTGTATTTTTAAAGCTTGAATTTACTGTCTCTGATGTTTCTTTAAATTTCCTAGGACATCATAGCAGTAACTTGACAATAGCTTTACCAGCTTTTTCTGTTCCATTTCTTTTTTATTCTTAACAGTTGCCTAGAAGTGCATTTCTATTTACTCCTATTTTGAGTAAGAAGAACCCATGATAAGGAGAAATTAGTCTTTAGATTTAATTTAGGGTACTTCTCTAGCCCCTATACCTTCCTGATATCATAAAATTAGGATGACCATATTTTCCGGTAATT... |
Task1_train_8666 | A mutation in BMPR1B (bone morphogenetic protein receptor type 1B), located on Chromosome 4, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; not provided | TCATTATAAATAATATATAATATATAATGTCCCCCCAAAATGTTCATGCCCTAATCCCCAGGATTTTTTTTTTTTTAAGACAAGGTCTTACTCTGTCACTTAGGCTGGAGTGTTGTGGTGCGATCTTGTCTCATTACAGCCTTGACCTCCCAGGCTCAAGCGATCCTCCCACCTCAGCCTCCCAAGTAGCTTGTCACTACGGGTGTGTGCTACCACACCTGGCTAATTTTCATATTATTTGTAGAGCTGAGTTTTTGCCATGTTGCCCAGGCTGGTCTTGAACTCCTGGACTCAAGGGATCCTCCCTCCACAGCCTCCCA... | TCATTATAAATAATATATAATATATAATGTCCCCCCAAAATGTTCATGCCCTAATCCCCAGGATTTTTTTTTTTTTAAGACAAGGTCTTACTCTGTCACTTAGGCTGGAGTGTTGTGGTGCGATCTTGTCTCATTACAGCCTTGACCTCCCAGGCTCAAGCGATCCTCCCACCTCAGCCTCCCAAGTAGCTTGTCACTACGGGTGTGTGCTACCACACCTGGCTAATTTTCATATTATTTGTAGAGCTGAGTTTTTGCCATGTTGCCCAGGCTGGTCTTGAACTCCTGGACTCAAGGGATCCTCCCTCCACAGCCTCCCA... |
Task1_train_8667 | Here is a mutation in BMPR1B (bone morphogenetic protein receptor type 1B) on Chromosome 4. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Acromesomelic dysplasia 2B | GTTCATGCCCTAATCCCCAGGATTTTTTTTTTTTTAAGACAAGGTCTTACTCTGTCACTTAGGCTGGAGTGTTGTGGTGCGATCTTGTCTCATTACAGCCTTGACCTCCCAGGCTCAAGCGATCCTCCCACCTCAGCCTCCCAAGTAGCTTGTCACTACGGGTGTGTGCTACCACACCTGGCTAATTTTCATATTATTTGTAGAGCTGAGTTTTTGCCATGTTGCCCAGGCTGGTCTTGAACTCCTGGACTCAAGGGATCCTCCCTCCACAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCAGACCT... | GTTCATGCCCTAATCCCCAGGATTTTTTTTTTTTTAAGACAAGGTCTTACTCTGTCACTTAGGCTGGAGTGTTGTGGTGCGATCTTGTCTCATTACAGCCTTGACCTCCCAGGCTCAAGCGATCCTCCCACCTCAGCCTCCCAAGTAGCTTGTCACTACGGGTGTGTGCTACCACACCTGGCTAATTTTCATATTATTTGTAGAGCTGAGTTTTTGCCATGTTGCCCAGGCTGGTCTTGAACTCCTGGACTCAAGGGATCCTCCCTCCACAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCAGACCT... |
Task1_train_8668 | This alteration in BMPR1B (bone morphogenetic protein receptor type 1B) on Chromosome 4 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Brachydactyly type A1D | GTTCATGCCCTAATCCCCAGGATTTTTTTTTTTTTAAGACAAGGTCTTACTCTGTCACTTAGGCTGGAGTGTTGTGGTGCGATCTTGTCTCATTACAGCCTTGACCTCCCAGGCTCAAGCGATCCTCCCACCTCAGCCTCCCAAGTAGCTTGTCACTACGGGTGTGTGCTACCACACCTGGCTAATTTTCATATTATTTGTAGAGCTGAGTTTTTGCCATGTTGCCCAGGCTGGTCTTGAACTCCTGGACTCAAGGGATCCTCCCTCCACAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCAGACCT... | GTTCATGCCCTAATCCCCAGGATTTTTTTTTTTTTAAGACAAGGTCTTACTCTGTCACTTAGGCTGGAGTGTTGTGGTGCGATCTTGTCTCATTACAGCCTTGACCTCCCAGGCTCAAGCGATCCTCCCACCTCAGCCTCCCAAGTAGCTTGTCACTACGGGTGTGTGCTACCACACCTGGCTAATTTTCATATTATTTGTAGAGCTGAGTTTTTGCCATGTTGCCCAGGCTGGTCTTGAACTCCTGGACTCAAGGGATCCTCCCTCCACAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCAGACCT... |
Task1_train_8669 | The gene BMPR1B (bone morphogenetic protein receptor type 1B), on Chromosome 4, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Type A2 brachydactyly | GTTCATGCCCTAATCCCCAGGATTTTTTTTTTTTTAAGACAAGGTCTTACTCTGTCACTTAGGCTGGAGTGTTGTGGTGCGATCTTGTCTCATTACAGCCTTGACCTCCCAGGCTCAAGCGATCCTCCCACCTCAGCCTCCCAAGTAGCTTGTCACTACGGGTGTGTGCTACCACACCTGGCTAATTTTCATATTATTTGTAGAGCTGAGTTTTTGCCATGTTGCCCAGGCTGGTCTTGAACTCCTGGACTCAAGGGATCCTCCCTCCACAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCAGACCT... | GTTCATGCCCTAATCCCCAGGATTTTTTTTTTTTTAAGACAAGGTCTTACTCTGTCACTTAGGCTGGAGTGTTGTGGTGCGATCTTGTCTCATTACAGCCTTGACCTCCCAGGCTCAAGCGATCCTCCCACCTCAGCCTCCCAAGTAGCTTGTCACTACGGGTGTGTGCTACCACACCTGGCTAATTTTCATATTATTTGTAGAGCTGAGTTTTTGCCATGTTGCCCAGGCTGGTCTTGAACTCCTGGACTCAAGGGATCCTCCCTCCACAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCAGACCT... |
Task1_train_8670 | Here is a mutation in BMPR1B (bone morphogenetic protein receptor type 1B) on Chromosome 4. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Acromesomelic dysplasia 3 | GTTCATGCCCTAATCCCCAGGATTTTTTTTTTTTTAAGACAAGGTCTTACTCTGTCACTTAGGCTGGAGTGTTGTGGTGCGATCTTGTCTCATTACAGCCTTGACCTCCCAGGCTCAAGCGATCCTCCCACCTCAGCCTCCCAAGTAGCTTGTCACTACGGGTGTGTGCTACCACACCTGGCTAATTTTCATATTATTTGTAGAGCTGAGTTTTTGCCATGTTGCCCAGGCTGGTCTTGAACTCCTGGACTCAAGGGATCCTCCCTCCACAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCAGACCT... | GTTCATGCCCTAATCCCCAGGATTTTTTTTTTTTTAAGACAAGGTCTTACTCTGTCACTTAGGCTGGAGTGTTGTGGTGCGATCTTGTCTCATTACAGCCTTGACCTCCCAGGCTCAAGCGATCCTCCCACCTCAGCCTCCCAAGTAGCTTGTCACTACGGGTGTGTGCTACCACACCTGGCTAATTTTCATATTATTTGTAGAGCTGAGTTTTTGCCATGTTGCCCAGGCTGGTCTTGAACTCCTGGACTCAAGGGATCCTCCCTCCACAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCAGACCT... |
Task1_train_8671 | A mutation found in BMPR1B (bone morphogenetic protein receptor type 1B) on Chromosome 4 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Brachydactyly type A1D | AACTCCTTCCTTCCCTCCCTCCTTCCTCCCTCCCTCCCTTTTTTCTTCCTCCCTGCATATAGATTTCCTTTATTTCTGTATGTGCCTAACAATGCATTACAATTTTGTTTTGTTATATTTATACATGATTAGGTGTATGGTGACGAGTCTCTTCAGAGTATGTAGTAGTCCATTATAACGGGGAAGTGCAAGTATTCTACTCTGCTGATTACTATGAGCCTACTCAGGTTTTTTCTCTGAGAAAATAATAATACTAAAATAAAGTATTTCATAATTTGGAAGCAGTGTTTTGAACATTCAGAATCCACACTCAATCTCAA... | AACTCCTTCCTTCCCTCCCTCCTTCCTCCCTCCCTCCCTTTTTTCTTCCTCCCTGCATATAGATTTCCTTTATTTCTGTATGTGCCTAACAATGCATTACAATTTTGTTTTGTTATATTTATACATGATTAGGTGTATGGTGACGAGTCTCTTCAGAGTATGTAGTAGTCCATTATAACGGGGAAGTGCAAGTATTCTACTCTGCTGATTACTATGAGCCTACTCAGGTTTTTTCTCTGAGAAAATAATAATACTAAAATAAAGTATTTCATAATTTGGAAGCAGTGTTTTGAACATTCAGAATCCACACTCAATCTCAA... |
Task1_train_8672 | A variant found in Chromosome 4 affects BMPR1B (bone morphogenetic protein receptor type 1B). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Acromesomelic dysplasia 3 | TGTGTTAGACTTTTATTTCTACTTCACAGAAAATAATAATAATAATAATAATAGTAACAACATATTTTTAGGTATAGTGGAAGAATACCAGCTTCCTTATCATGACCTAGTGCCCAGTGACCCCTCTTATGAGGACATGAGGGAGATTGTGTGCATCAAGAAGTTACGCCCCTCATTCCCAAACCGGTGGAGCAGTGATGAGGTAAGGCTTGAGGTAACCATGTGGCTGTGACAGACTTCTAAATAGACTTTTCTTTTTTAGCTAAAATTCCACATATTGATTGTAGGAATTCTTCTTTTTTTGATGGTGATGGTGATGG... | TGTGTTAGACTTTTATTTCTACTTCACAGAAAATAATAATAATAATAATAATAGTAACAACATATTTTTAGGTATAGTGGAAGAATACCAGCTTCCTTATCATGACCTAGTGCCCAGTGACCCCTCTTATGAGGACATGAGGGAGATTGTGTGCATCAAGAAGTTACGCCCCTCATTCCCAAACCGGTGGAGCAGTGATGAGGTAAGGCTTGAGGTAACCATGTGGCTGTGACAGACTTCTAAATAGACTTTTCTTTTTTAGCTAAAATTCCACATATTGATTGTAGGAATTCTTCTTTTTTTGATGGTGATGGTGATGG... |
Task1_train_8673 | A variant on Chromosome 4 in gene BMPR1B (bone morphogenetic protein receptor type 1B) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Type A2 brachydactyly | TGTGTTAGACTTTTATTTCTACTTCACAGAAAATAATAATAATAATAATAATAGTAACAACATATTTTTAGGTATAGTGGAAGAATACCAGCTTCCTTATCATGACCTAGTGCCCAGTGACCCCTCTTATGAGGACATGAGGGAGATTGTGTGCATCAAGAAGTTACGCCCCTCATTCCCAAACCGGTGGAGCAGTGATGAGGTAAGGCTTGAGGTAACCATGTGGCTGTGACAGACTTCTAAATAGACTTTTCTTTTTTAGCTAAAATTCCACATATTGATTGTAGGAATTCTTCTTTTTTTGATGGTGATGGTGATGG... | TGTGTTAGACTTTTATTTCTACTTCACAGAAAATAATAATAATAATAATAATAGTAACAACATATTTTTAGGTATAGTGGAAGAATACCAGCTTCCTTATCATGACCTAGTGCCCAGTGACCCCTCTTATGAGGACATGAGGGAGATTGTGTGCATCAAGAAGTTACGCCCCTCATTCCCAAACCGGTGGAGCAGTGATGAGGTAAGGCTTGAGGTAACCATGTGGCTGTGACAGACTTCTAAATAGACTTTTCTTTTTTAGCTAAAATTCCACATATTGATTGTAGGAATTCTTCTTTTTTTGATGGTGATGGTGATGG... |
Task1_train_8674 | The gene BMPR1B (bone morphogenetic protein receptor type 1B) on Chromosome 4 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; BMPR1B-related disorder | GTGTTAGACTTTTATTTCTACTTCACAGAAAATAATAATAATAATAATAATAGTAACAACATATTTTTAGGTATAGTGGAAGAATACCAGCTTCCTTATCATGACCTAGTGCCCAGTGACCCCTCTTATGAGGACATGAGGGAGATTGTGTGCATCAAGAAGTTACGCCCCTCATTCCCAAACCGGTGGAGCAGTGATGAGGTAAGGCTTGAGGTAACCATGTGGCTGTGACAGACTTCTAAATAGACTTTTCTTTTTTAGCTAAAATTCCACATATTGATTGTAGGAATTCTTCTTTTTTTGATGGTGATGGTGATGGC... | GTGTTAGACTTTTATTTCTACTTCACAGAAAATAATAATAATAATAATAATAGTAACAACATATTTTTAGGTATAGTGGAAGAATACCAGCTTCCTTATCATGACCTAGTGCCCAGTGACCCCTCTTATGAGGACATGAGGGAGATTGTGTGCATCAAGAAGTTACGCCCCTCATTCCCAAACCGGTGGAGCAGTGATGAGGTAAGGCTTGAGGTAACCATGTGGCTGTGACAGACTTCTAAATAGACTTTTCTTTTTTAGCTAAAATTCCACATATTGATTGTAGGAATTCTTCTTTTTTTGATGGTGATGGTGATGGC... |
Task1_train_8675 | This alteration in PDHA2 (pyruvate dehydrogenase E1 subunit alpha 2) on Chromosome 4 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Spermatogenic failure 70 | AGAGCATGCATTAAGGTGAATGGCTTAATATTCTAAATAAAACAGGATCCCTAGTTAGGGTTGGCTTATTGGGGCACAAAATCGCCTTCCTGGTAAAAGCACAAAAAGAGAGAAATGATATGTGATCTTTGTATCCCTTGGTCTAAGGCTTCTCTTCTCTTGTGATTGAACGGTTTCCAGTGGCATAAGCAAACTCTGTTGCTCTCTTGTAGTCCAAACTGTGTATTGTTTGGTGGGTCACTTTATAAGAAGTAACACTTTCTAATGGTTACTACATAAAAAGGCACTATAAGAACATGTTTCTAGATTTCCTGGACTAA... | AGAGCATGCATTAAGGTGAATGGCTTAATATTCTAAATAAAACAGGATCCCTAGTTAGGGTTGGCTTATTGGGGCACAAAATCGCCTTCCTGGTAAAAGCACAAAAAGAGAGAAATGATATGTGATCTTTGTATCCCTTGGTCTAAGGCTTCTCTTCTCTTGTGATTGAACGGTTTCCAGTGGCATAAGCAAACTCTGTTGCTCTCTTGTAGTCCAAACTGTGTATTGTTTGGTGGGTCACTTTATAAGAAGTAACACTTTCTAATGGTTACTACATAAAAAGGCACTATAAGAACATGTTTCTAGATTTCCTGGACTAA... |
Task1_train_8676 | The following genetic variant occurs in PDHA2 (pyruvate dehydrogenase E1 subunit alpha 2) on Chromosome 4. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Oligosynaptic infertility | AGAGCATGCATTAAGGTGAATGGCTTAATATTCTAAATAAAACAGGATCCCTAGTTAGGGTTGGCTTATTGGGGCACAAAATCGCCTTCCTGGTAAAAGCACAAAAAGAGAGAAATGATATGTGATCTTTGTATCCCTTGGTCTAAGGCTTCTCTTCTCTTGTGATTGAACGGTTTCCAGTGGCATAAGCAAACTCTGTTGCTCTCTTGTAGTCCAAACTGTGTATTGTTTGGTGGGTCACTTTATAAGAAGTAACACTTTCTAATGGTTACTACATAAAAAGGCACTATAAGAACATGTTTCTAGATTTCCTGGACTAA... | AGAGCATGCATTAAGGTGAATGGCTTAATATTCTAAATAAAACAGGATCCCTAGTTAGGGTTGGCTTATTGGGGCACAAAATCGCCTTCCTGGTAAAAGCACAAAAAGAGAGAAATGATATGTGATCTTTGTATCCCTTGGTCTAAGGCTTCTCTTCTCTTGTGATTGAACGGTTTCCAGTGGCATAAGCAAACTCTGTTGCTCTCTTGTAGTCCAAACTGTGTATTGTTTGGTGGGTCACTTTATAAGAAGTAACACTTTCTAATGGTTACTACATAAAAAGGCACTATAAGAACATGTTTCTAGATTTCCTGGACTAA... |
Task1_train_8677 | Assess the clinical impact of this variant on gene PDHA2 (pyruvate dehydrogenase E1 subunit alpha 2), found on Chromosome 4. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Azoospermia | AGAGCATGCATTAAGGTGAATGGCTTAATATTCTAAATAAAACAGGATCCCTAGTTAGGGTTGGCTTATTGGGGCACAAAATCGCCTTCCTGGTAAAAGCACAAAAAGAGAGAAATGATATGTGATCTTTGTATCCCTTGGTCTAAGGCTTCTCTTCTCTTGTGATTGAACGGTTTCCAGTGGCATAAGCAAACTCTGTTGCTCTCTTGTAGTCCAAACTGTGTATTGTTTGGTGGGTCACTTTATAAGAAGTAACACTTTCTAATGGTTACTACATAAAAAGGCACTATAAGAACATGTTTCTAGATTTCCTGGACTAA... | AGAGCATGCATTAAGGTGAATGGCTTAATATTCTAAATAAAACAGGATCCCTAGTTAGGGTTGGCTTATTGGGGCACAAAATCGCCTTCCTGGTAAAAGCACAAAAAGAGAGAAATGATATGTGATCTTTGTATCCCTTGGTCTAAGGCTTCTCTTCTCTTGTGATTGAACGGTTTCCAGTGGCATAAGCAAACTCTGTTGCTCTCTTGTAGTCCAAACTGTGTATTGTTTGGTGGGTCACTTTATAAGAAGTAACACTTTCTAATGGTTACTACATAAAAAGGCACTATAAGAACATGTTTCTAGATTTCCTGGACTAA... |
Task1_train_8678 | This genomic variant is located on Chromosome 4, within the ADH5 (alcohol dehydrogenase 5 (class III), chi polypeptide) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; AMED syndrome, digenic | ACAACAAGCTTATTTAGGTCCACATCAGCAAAGATTTCTATAATCATGATATTCAAGGAAGAAAAAAACTAATACAGGACTTTATTTCCTTGGTTTTAAATTTAACAATGAAATAGGGATAGCATATCAGAACAGAAAACTATGAAACTGAAAAATGAAGTAGAACTCTTTAGCTAAATGCTAAGTTTGTTCGTTTGTTTTTGAGACGGAGTCTCGCTCTATCGCCTAGGCTGGAGTACAGTTGCGTGATCTCAGCTCATTGCAAGCTCTGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGGGTAGCTGGG... | ACAACAAGCTTATTTAGGTCCACATCAGCAAAGATTTCTATAATCATGATATTCAAGGAAGAAAAAAACTAATACAGGACTTTATTTCCTTGGTTTTAAATTTAACAATGAAATAGGGATAGCATATCAGAACAGAAAACTATGAAACTGAAAAATGAAGTAGAACTCTTTAGCTAAATGCTAAGTTTGTTCGTTTGTTTTTGAGACGGAGTCTCGCTCTATCGCCTAGGCTGGAGTACAGTTGCGTGATCTCAGCTCATTGCAAGCTCTGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGGGTAGCTGGG... |
Task1_train_8679 | The following genetic variant occurs in TRMT10A (tRNA methyltransferase 10A) on Chromosome 4. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Inborn genetic diseases | TGCATGTCATTACCCCTAAAGACCTTTCAGTGGACTAAGATGTAGAGGTAGAAGACAGTGATTTTGATGATCCTGACTCTATGTAGGCCTAGGCTAATGTGTGTGTTTGTGTAGTAGTTTTTAACAAAAAAGTTTAAAAAGTTGAAAAAAAAAGAGGAAAATTTTTTTTTTAATTTTAAAAAGTTAAAAAATTAAGAATAGAAAGAAGCCTATGGAATAAGGATATATGAAGAAAATATTTTTGTACAGCTGTATAATGTGTTTACGTTTTAAGCTAAATGTTATTACAAAAGAGTCCAACAGTTTAAAAAATTAAGTTT... | TGCATGTCATTACCCCTAAAGACCTTTCAGTGGACTAAGATGTAGAGGTAGAAGACAGTGATTTTGATGATCCTGACTCTATGTAGGCCTAGGCTAATGTGTGTGTTTGTGTAGTAGTTTTTAACAAAAAAGTTTAAAAAGTTGAAAAAAAAAGAGGAAAATTTTTTTTTTAATTTTAAAAAGTTAAAAAATTAAGAATAGAAAGAAGCCTATGGAATAAGGATATATGAAGAAAATATTTTTGTACAGCTGTATAATGTGTTTACGTTTTAAGCTAAATGTTATTACAAAAGAGTCCAACAGTTTAAAAAATTAAGTTT... |
Task1_train_8680 | A variant on Chromosome 4 in gene MTTP (microsomal triglyceride transfer protein) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Abetalipoproteinaemia | GAGGACTTGAAAAAGCAGAGAAAAAAGAGGACACCAGGATGTATCTGCTGGCTTTGAAGAATGCCCTGCTTCCAGAAGGCATCCCAAGTCTTCTGAAGTATGCAGAAGCAGGAGAAGGGCCCATCAGCCACCTGGCTACCACTGCTCTCCAGAGATATGATCTCCCTTTCATAACTGATGAGGTAAAATCTCCAAGAATATTTGCAACATTTACAGAAGAAAAAAAAAAAGCATGCTGAACATGAGTCAAATGCAAATTCCGCTCAAGTCACTCTGTATTTTCCCCAAATAGTCTTCTCTCCTGCTTAAAAATAACTCTT... | GAGGACTTGAAAAAGCAGAGAAAAAAGAGGACACCAGGATGTATCTGCTGGCTTTGAAGAATGCCCTGCTTCCAGAAGGCATCCCAAGTCTTCTGAAGTATGCAGAAGCAGGAGAAGGGCCCATCAGCCACCTGGCTACCACTGCTCTCCAGAGATATGATCTCCCTTTCATAACTGATGAGGTAAAATCTCCAAGAATATTTGCAACATTTACAGAAGAAAAAAAAAAAGCATGCTGAACATGAGTCAAATGCAAATTCCGCTCAAGTCACTCTGTATTTTCCCCAAATAGTCTTCTCTCCTGCTTAAAAATAACTCTT... |
Task1_train_8681 | This sequence variant lies in MTTP (microsomal triglyceride transfer protein) on Chromosome 4. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Abetalipoproteinaemia | AGAGATATGATCTCCCTTTCATAACTGATGAGGTAAAATCTCCAAGAATATTTGCAACATTTACAGAAGAAAAAAAAAAAGCATGCTGAACATGAGTCAAATGCAAATTCCGCTCAAGTCACTCTGTATTTTCCCCAAATAGTCTTCTCTCCTGCTTAAAAATAACTCTTAAATTGCATTTGCGGCTATTCTAAATATCCTCACAGGGTAACGTCCTATATCTATATCCTGAAGCATAAATATTGAAGCATATTCTCTTATTTTAAGAAACAAATTCTTTTTTGAAATATATTTACTTTTATAAGTTTTAAGATGCTGTT... | AGAGATATGATCTCCCTTTCATAACTGATGAGGTAAAATCTCCAAGAATATTTGCAACATTTACAGAAGAAAAAAAAAAAGCATGCTGAACATGAGTCAAATGCAAATTCCGCTCAAGTCACTCTGTATTTTCCCCAAATAGTCTTCTCTCCTGCTTAAAAATAACTCTTAAATTGCATTTGCGGCTATTCTAAATATCCTCACAGGGTAACGTCCTATATCTATATCCTGAAGCATAAATATTGAAGCATATTCTCTTATTTTAAGAAACAAATTCTTTTTTGAAATATATTTACTTTTATAAGTTTTAAGATGCTGTT... |
Task1_train_8682 | Mutation context: Chromosome 4, Gene MTTP (microsomal triglyceride transfer protein). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Abetalipoproteinaemia | ATAGCTTTCATTTGGAAATAATCATGTTTGGAGTACACATACAGAACTCTCATATTTTGGTCCCATAGTTCACAGGCATAGGTGAAAATGTGGGCATGACTATTGTGTTTTCTTCAGGATAGTTTGTGTCCATCACATTAGTTATAATGCCTCAAACAACCCCTTCATCCCATGCAGCCATATTTTGTCCTATATCAAATGTCTCTTTAAGTATCCTTAGAGCTATCTCCTAATGTGTCCTGAGCATGGCACTGAGAATCTCATGCTTCCATCAAAGAGTGTCCTTCAGACTGAAAGTAGCTTCATGCCGCAACCGTACT... | ATAGCTTTCATTTGGAAATAATCATGTTTGGAGTACACATACAGAACTCTCATATTTTGGTCCCATAGTTCACAGGCATAGGTGAAAATGTGGGCATGACTATTGTGTTTTCTTCAGGATAGTTTGTGTCCATCACATTAGTTATAATGCCTCAAACAACCCCTTCATCCCATGCAGCCATATTTTGTCCTATATCAAATGTCTCTTTAAGTATCCTTAGAGCTATCTCCTAATGTGTCCTGAGCATGGCACTGAGAATCTCATGCTTCCATCAAAGAGTGTCCTTCAGACTGAAAGTAGCTTCATGCCGCAACCGTACT... |
Task1_train_8683 | A sequence alteration has been identified in PPP3CA (protein phosphatase 3 catalytic subunit alpha) on Chromosome 4. Is it disease-inducing or harmless? | Pathogenic; Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development | CCTAGTACTTTTTGCTTTAGCAGATAGATAGGGCATCCAATACAACTGAAACAACCTGATAACAAATTAATTTTATTTTTCAATAAAAAGGAATGCTCTGGTTTTTTAACTGGCTCCTTGAGGAAGCCAGAAGATGGCATCTGCTCTTTAAACAGGCTTCTCTTATCTGATTTGAGACACAAATCCACCAAGATTCTTTCTTACAGTGGAAGTAGGCACCACCCCTCAGATCACGAGGCCCCTAGGAAGAAGCCTGTGGAAATCAGCCTGTGATGTGTGGTGGTGGGCCAGCACCTAGAAGACACATGGTGGTTGTGCAC... | CCTAGTACTTTTTGCTTTAGCAGATAGATAGGGCATCCAATACAACTGAAACAACCTGATAACAAATTAATTTTATTTTTCAATAAAAAGGAATGCTCTGGTTTTTTAACTGGCTCCTTGAGGAAGCCAGAAGATGGCATCTGCTCTTTAAACAGGCTTCTCTTATCTGATTTGAGACACAAATCCACCAAGATTCTTTCTTACAGTGGAAGTAGGCACCACCCCTCAGATCACGAGGCCCCTAGGAAGAAGCCTGTGGAAATCAGCCTGTGATGTGTGGTGGTGGGCCAGCACCTAGAAGACACATGGTGGTTGTGCAC... |
Task1_train_8684 | This alteration in PPP3CA (protein phosphatase 3 catalytic subunit alpha) on Chromosome 4 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development | TTTTGCTTTAGCAGATAGATAGGGCATCCAATACAACTGAAACAACCTGATAACAAATTAATTTTATTTTTCAATAAAAAGGAATGCTCTGGTTTTTTAACTGGCTCCTTGAGGAAGCCAGAAGATGGCATCTGCTCTTTAAACAGGCTTCTCTTATCTGATTTGAGACACAAATCCACCAAGATTCTTTCTTACAGTGGAAGTAGGCACCACCCCTCAGATCACGAGGCCCCTAGGAAGAAGCCTGTGGAAATCAGCCTGTGATGTGTGGTGGTGGGCCAGCACCTAGAAGACACATGGTGGTTGTGCACATAAATCCC... | TTTTGCTTTAGCAGATAGATAGGGCATCCAATACAACTGAAACAACCTGATAACAAATTAATTTTATTTTTCAATAAAAAGGAATGCTCTGGTTTTTTAACTGGCTCCTTGAGGAAGCCAGAAGATGGCATCTGCTCTTTAAACAGGCTTCTCTTATCTGATTTGAGACACAAATCCACCAAGATTCTTTCTTACAGTGGAAGTAGGCACCACCCCTCAGATCACGAGGCCCCTAGGAAGAAGCCTGTGGAAATCAGCCTGTGATGTGTGGTGGTGGGCCAGCACCTAGAAGACACATGGTGGTTGTGCACATAAATCCC... |
Task1_train_8685 | Here is a mutation in PPP3CA (protein phosphatase 3 catalytic subunit alpha) on Chromosome 4. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Developmental and epileptic encephalopathy 91 | GTTTAATATTAAAATTCTACCCCTTGACTTTAATTTGCATTTTTCTTATAATTCAAGATTTTAAAACTACAGCAACTGCAAAATGTGCACTATAACTTACTTACGGTGGATTCGAGATTCCTTATGATAAAAATGGAGAATGGTTATCACCATGGAGAGAGAGAGTACATAGCAAAGTTGTAAGTAGTCTACCCTTTTAGACAAATTGAAGGGCATCAGGCAATACATTTTGGAGTCGTATCAATGTATGTGGTTTAAAATATATAGTAAGTTTTCAAACCCATATAGAAAGGTTCCAACCCATATGTCTTTTATGTGTA... | GTTTAATATTAAAATTCTACCCCTTGACTTTAATTTGCATTTTTCTTATAATTCAAGATTTTAAAACTACAGCAACTGCAAAATGTGCACTATAACTTACTTACGGTGGATTCGAGATTCCTTATGATAAAAATGGAGAATGGTTATCACCATGGAGAGAGAGAGTACATAGCAAAGTTGTAAGTAGTCTACCCTTTTAGACAAATTGAAGGGCATCAGGCAATACATTTTGGAGTCGTATCAATGTATGTGGTTTAAAATATATAGTAAGTTTTCAAACCCATATAGAAAGGTTCCAACCCATATGTCTTTTATGTGTA... |
Task1_train_8686 | This variant affects gene PPP3CA (protein phosphatase 3 catalytic subunit alpha) located on Chromosome 4. Evaluate its biological effect and specify any disease association. | Pathogenic; Developmental and epileptic encephalopathy 91 | TGCCATTAGCTTAGCTGCCAGGGCTGGAATTGAGCATTAACTTCAGGGAACATCAGGTTAAGTTCTTCAGTATCTAATAATAATAATAATAATAATAATAATAATAATAATAATAATGAAGAAGAGGAGGAGGAGGAGGAGGAAGGAGGAGAAGAGGAGGAGTAAGTATTCTAAAATTAAAAATTCTCATCTTCTTCATAACCTCTTTTCTCTTTCACTCTCGCAATTTTCACATAAGCTGTATGTATAATGATAAGAGACTTTAGTGAAACTGAGGAAGATCACATCTGGGAGGATAAAACTGAGGTGACACGATAGGA... | TGCCATTAGCTTAGCTGCCAGGGCTGGAATTGAGCATTAACTTCAGGGAACATCAGGTTAAGTTCTTCAGTATCTAATAATAATAATAATAATAATAATAATAATAATAATAATAATGAAGAAGAGGAGGAGGAGGAGGAGGAAGGAGGAGAAGAGGAGGAGTAAGTATTCTAAAATTAAAAATTCTCATCTTCTTCATAACCTCTTTTCTCTTTCACTCTCGCAATTTTCACATAAGCTGTATGTATAATGATAAGAGACTTTAGTGAAACTGAGGAAGATCACATCTGGGAGGATAAAACTGAGGTGACACGATAGGA... |
Task1_train_8687 | Consider a variant on Chromosome 4 in gene PPP3CA (protein phosphatase 3 catalytic subunit alpha). Determine its clinical classification and disease relevance. | Pathogenic; not provided | AGTTCTTCAGTATCTAATAATAATAATAATAATAATAATAATAATAATAATAATAATGAAGAAGAGGAGGAGGAGGAGGAGGAAGGAGGAGAAGAGGAGGAGTAAGTATTCTAAAATTAAAAATTCTCATCTTCTTCATAACCTCTTTTCTCTTTCACTCTCGCAATTTTCACATAAGCTGTATGTATAATGATAAGAGACTTTAGTGAAACTGAGGAAGATCACATCTGGGAGGATAAAACTGAGGTGACACGATAGGAAGACAGTGAGGTCATGCAGAAACCTAATCGTGTTGCAGATTCCTTTCTGAAGTGTTATAA... | AGTTCTTCAGTATCTAATAATAATAATAATAATAATAATAATAATAATAATAATAATGAAGAAGAGGAGGAGGAGGAGGAGGAAGGAGGAGAAGAGGAGGAGTAAGTATTCTAAAATTAAAAATTCTCATCTTCTTCATAACCTCTTTTCTCTTTCACTCTCGCAATTTTCACATAAGCTGTATGTATAATGATAAGAGACTTTAGTGAAACTGAGGAAGATCACATCTGGGAGGATAAAACTGAGGTGACACGATAGGAAGACAGTGAGGTCATGCAGAAACCTAATCGTGTTGCAGATTCCTTTCTGAAGTGTTATAA... |
Task1_train_8688 | This alteration occurs within gene PPP3CA (protein phosphatase 3 catalytic subunit alpha) located on Chromosome 4. Is it associated with a disease or is it a benign variant? | Pathogenic; not provided | ACTGCGATTTTTTATTACTCTCTATCTTTTACATCATTGCAATCAGAGTTAGAAACATACCAAAGAAATAAAAGATTGTCTATCTATTGTACTACATAAAACTATCCCATGTTACTAGATTTACTCAAGAAAGAGACACAATCCACTTCCACATTCAATGTAACTCATCTTTTTGCTGGTTTAAACAACTGTTAATAGCCAATGCTAAACTGGAGTATTTCTTAAAAACTTCTTACAAATACTTCTTAAAAAGTCCAGTTTTTCACTCAGCCACTCAGTAAAATTAATAAAATATTATCACTGTCCTTGTTAGATTGCTA... | ACTGCGATTTTTTATTACTCTCTATCTTTTACATCATTGCAATCAGAGTTAGAAACATACCAAAGAAATAAAAGATTGTCTATCTATTGTACTACATAAAACTATCCCATGTTACTAGATTTACTCAAGAAAGAGACACAATCCACTTCCACATTCAATGTAACTCATCTTTTTGCTGGTTTAAACAACTGTTAATAGCCAATGCTAAACTGGAGTATTTCTTAAAAACTTCTTACAAATACTTCTTAAAAAGTCCAGTTTTTCACTCAGCCACTCAGTAAAATTAATAAAATATTATCACTGTCCTTGTTAGATTGCTA... |
Task1_train_8689 | Assess the clinical impact of this variant on gene PPP3CA (protein phosphatase 3 catalytic subunit alpha), found on Chromosome 4. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Intellectual disability | AAAGGTCTTACAAAATTAGTACTCAATTGCTTTTCCATCAGTTAAGCTGGTCAGGCTGGCCCCAAGAACAAAAAAACAAGGTTAGCAGAGTTCACTAATTTCTTCCTCTGTACTTTTGCTCACTTTAATTTCCTTCCTAGCTAAAACTTACTTGTTCTTTGATTCAGTCTTCCCAAAACATGTGTGCTCTCAATATTCTTTCACTTTTCTCTAATCCAATCACACTTACTATTTTGTATCTCCTTTATCACAAGGTTTTAATAATCCATTTAAATTACTGACCTCTGGATAATCACATATTCCAGGCTTCTGATTCTAAA... | AAAGGTCTTACAAAATTAGTACTCAATTGCTTTTCCATCAGTTAAGCTGGTCAGGCTGGCCCCAAGAACAAAAAAACAAGGTTAGCAGAGTTCACTAATTTCTTCCTCTGTACTTTTGCTCACTTTAATTTCCTTCCTAGCTAAAACTTACTTGTTCTTTGATTCAGTCTTCCCAAAACATGTGTGCTCTCAATATTCTTTCACTTTTCTCTAATCCAATCACACTTACTATTTTGTATCTCCTTTATCACAAGGTTTTAATAATCCATTTAAATTACTGACCTCTGGATAATCACATATTCCAGGCTTCTGATTCTAAA... |
Task1_train_8690 | A variant has been detected on Chromosome 4 in PPP3CA (protein phosphatase 3 catalytic subunit alpha). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Seizure | AAAGGTCTTACAAAATTAGTACTCAATTGCTTTTCCATCAGTTAAGCTGGTCAGGCTGGCCCCAAGAACAAAAAAACAAGGTTAGCAGAGTTCACTAATTTCTTCCTCTGTACTTTTGCTCACTTTAATTTCCTTCCTAGCTAAAACTTACTTGTTCTTTGATTCAGTCTTCCCAAAACATGTGTGCTCTCAATATTCTTTCACTTTTCTCTAATCCAATCACACTTACTATTTTGTATCTCCTTTATCACAAGGTTTTAATAATCCATTTAAATTACTGACCTCTGGATAATCACATATTCCAGGCTTCTGATTCTAAA... | AAAGGTCTTACAAAATTAGTACTCAATTGCTTTTCCATCAGTTAAGCTGGTCAGGCTGGCCCCAAGAACAAAAAAACAAGGTTAGCAGAGTTCACTAATTTCTTCCTCTGTACTTTTGCTCACTTTAATTTCCTTCCTAGCTAAAACTTACTTGTTCTTTGATTCAGTCTTCCCAAAACATGTGTGCTCTCAATATTCTTTCACTTTTCTCTAATCCAATCACACTTACTATTTTGTATCTCCTTTATCACAAGGTTTTAATAATCCATTTAAATTACTGACCTCTGGATAATCACATATTCCAGGCTTCTGATTCTAAA... |
Task1_train_8691 | A variant was discovered on Chromosome 4, affecting PPP3CA (protein phosphatase 3 catalytic subunit alpha). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Inborn genetic diseases | AAAGGTCTTACAAAATTAGTACTCAATTGCTTTTCCATCAGTTAAGCTGGTCAGGCTGGCCCCAAGAACAAAAAAACAAGGTTAGCAGAGTTCACTAATTTCTTCCTCTGTACTTTTGCTCACTTTAATTTCCTTCCTAGCTAAAACTTACTTGTTCTTTGATTCAGTCTTCCCAAAACATGTGTGCTCTCAATATTCTTTCACTTTTCTCTAATCCAATCACACTTACTATTTTGTATCTCCTTTATCACAAGGTTTTAATAATCCATTTAAATTACTGACCTCTGGATAATCACATATTCCAGGCTTCTGATTCTAAA... | AAAGGTCTTACAAAATTAGTACTCAATTGCTTTTCCATCAGTTAAGCTGGTCAGGCTGGCCCCAAGAACAAAAAAACAAGGTTAGCAGAGTTCACTAATTTCTTCCTCTGTACTTTTGCTCACTTTAATTTCCTTCCTAGCTAAAACTTACTTGTTCTTTGATTCAGTCTTCCCAAAACATGTGTGCTCTCAATATTCTTTCACTTTTCTCTAATCCAATCACACTTACTATTTTGTATCTCCTTTATCACAAGGTTTTAATAATCCATTTAAATTACTGACCTCTGGATAATCACATATTCCAGGCTTCTGATTCTAAA... |
Task1_train_8692 | The gene SLC39A8 (solute carrier family 39 member 8) on Chromosome 4 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; SLC39A8-CDG | GTATCAGTGAGAAAGAAGCTGTAGTAACATCAGTGTTGGAGAATCTTTATTTATTATAGGGTTAACCTCTTGTACCGTAATGGACCTTAAATGAGCACAGAAGTCTGGTCTCCAAAGTGAGACCTAAAGGAAGATGATGCCAACCAGAGCATGGAGGACAGACTGGAAGTTTTCCCCTGGCACAGGCCATCAGTAATCAGCTGTTGATATGCCTATGTTAATTGTCTGGTAAACTCGTGGTGCTGTTTTGGCTCTTCTCAACTAGTTCACTTTTTAAAAATTTAAGCACCTCATTAAAGAAACCCTTTTAGATGTGGTAA... | GTATCAGTGAGAAAGAAGCTGTAGTAACATCAGTGTTGGAGAATCTTTATTTATTATAGGGTTAACCTCTTGTACCGTAATGGACCTTAAATGAGCACAGAAGTCTGGTCTCCAAAGTGAGACCTAAAGGAAGATGATGCCAACCAGAGCATGGAGGACAGACTGGAAGTTTTCCCCTGGCACAGGCCATCAGTAATCAGCTGTTGATATGCCTATGTTAATTGTCTGGTAAACTCGTGGTGCTGTTTTGGCTCTTCTCAACTAGTTCACTTTTTAAAAATTTAAGCACCTCATTAAAGAAACCCTTTTAGATGTGGTAA... |
Task1_train_8693 | A variant was discovered in gene NFKB1 (nuclear factor kappa B subunit 1), Chromosome 4. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; not provided | TGATTAAAGATAATGAATTGTGTGTGTGTGGTTTTGGGGTTTTTTTTGTTTTTTTTTTTTAAGTTAGAAAAAGATTCTTTTTTCTTTGGGACCTCTTAGCCACAGATTTTCCCCAGCTCTGACGGAGATGAGTCATAGCATAGACTACTAATTTTTAGAACATCCAGTTCTGTTGCATATTAATCAGTGTTAATTAACTAATACTGTTCAAAAACTCAAGTTGTGTTTAAATTAGCAGTCAAGTAAATCTCTATTCTTATGGTTAGCTAATTCTGCAGGCTATTATACATGTGTTGTTTTTTTCATGGTTTTAGAAATTT... | TGATTAAAGATAATGAATTGTGTGTGTGTGGTTTTGGGGTTTTTTTTGTTTTTTTTTTTTAAGTTAGAAAAAGATTCTTTTTTCTTTGGGACCTCTTAGCCACAGATTTTCCCCAGCTCTGACGGAGATGAGTCATAGCATAGACTACTAATTTTTAGAACATCCAGTTCTGTTGCATATTAATCAGTGTTAATTAACTAATACTGTTCAAAAACTCAAGTTGTGTTTAAATTAGCAGTCAAGTAAATCTCTATTCTTATGGTTAGCTAATTCTGCAGGCTATTATACATGTGTTGTTTTTTTCATGGTTTTAGAAATTT... |
Task1_train_8694 | Consider this mutation in NFKB1 (nuclear factor kappa B subunit 1) on Chromosome 4. Is this a benign change or a disease-causing variant? | Pathogenic; Common variable immunodeficiency | ATCATCATAACAAAGACTGATTTCAGATGTCAACACCAAGAAACACAACTGGCATCAGCAATCTATAGAGAGTATCTAGGGACAGCAGTCAGCTTTGGAGAAAACCCAGAACTTCTCATACCCCATCCCACATTTAAGGGCAAAGACTTTCTCCTTGTTAAAGGGAAAGCACTGAGTTCATAATTAGCTTTATACCCAGAGTTTTTTTTTTTTTAAATGTTATACCTGTTTAAGAAATTTTTTGTGCTTTGAGGTGGTCAAGATCAAATTTAATTAGCAACCCTCTTCGTGATTGGCTTGCTCTGGGGACCCTGCTCTTT... | ATCATCATAACAAAGACTGATTTCAGATGTCAACACCAAGAAACACAACTGGCATCAGCAATCTATAGAGAGTATCTAGGGACAGCAGTCAGCTTTGGAGAAAACCCAGAACTTCTCATACCCCATCCCACATTTAAGGGCAAAGACTTTCTCCTTGTTAAAGGGAAAGCACTGAGTTCATAATTAGCTTTATACCCAGAGTTTTTTTTTTTTTAAATGTTATACCTGTTTAAGAAATTTTTTGTGCTTTGAGGTGGTCAAGATCAAATTTAATTAGCAACCCTCTTCGTGATTGGCTTGCTCTGGGGACCCTGCTCTTT... |
Task1_train_8695 | With a mutation on Chromosome 4 in gene NFKB1 (nuclear factor kappa B subunit 1), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Primary ciliary dyskinesia 3 | ATCATAACAAAGACTGATTTCAGATGTCAACACCAAGAAACACAACTGGCATCAGCAATCTATAGAGAGTATCTAGGGACAGCAGTCAGCTTTGGAGAAAACCCAGAACTTCTCATACCCCATCCCACATTTAAGGGCAAAGACTTTCTCCTTGTTAAAGGGAAAGCACTGAGTTCATAATTAGCTTTATACCCAGAGTTTTTTTTTTTTTAAATGTTATACCTGTTTAAGAAATTTTTTGTGCTTTGAGGTGGTCAAGATCAAATTTAATTAGCAACCCTCTTCGTGATTGGCTTGCTCTGGGGACCCTGCTCTTTGAG... | ATCATAACAAAGACTGATTTCAGATGTCAACACCAAGAAACACAACTGGCATCAGCAATCTATAGAGAGTATCTAGGGACAGCAGTCAGCTTTGGAGAAAACCCAGAACTTCTCATACCCCATCCCACATTTAAGGGCAAAGACTTTCTCCTTGTTAAAGGGAAAGCACTGAGTTCATAATTAGCTTTATACCCAGAGTTTTTTTTTTTTTAAATGTTATACCTGTTTAAGAAATTTTTTGTGCTTTGAGGTGGTCAAGATCAAATTTAATTAGCAACCCTCTTCGTGATTGGCTTGCTCTGGGGACCCTGCTCTTTGAG... |
Task1_train_8696 | With a mutation on Chromosome 4 in gene NFKB1 (nuclear factor kappa B subunit 1), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Common variable immunodeficiency | CACCAAGAAACACAACTGGCATCAGCAATCTATAGAGAGTATCTAGGGACAGCAGTCAGCTTTGGAGAAAACCCAGAACTTCTCATACCCCATCCCACATTTAAGGGCAAAGACTTTCTCCTTGTTAAAGGGAAAGCACTGAGTTCATAATTAGCTTTATACCCAGAGTTTTTTTTTTTTTAAATGTTATACCTGTTTAAGAAATTTTTTGTGCTTTGAGGTGGTCAAGATCAAATTTAATTAGCAACCCTCTTCGTGATTGGCTTGCTCTGGGGACCCTGCTCTTTGAGAAGGAGGTTAGAAGGTTTAGAAGCAAACCT... | CACCAAGAAACACAACTGGCATCAGCAATCTATAGAGAGTATCTAGGGACAGCAGTCAGCTTTGGAGAAAACCCAGAACTTCTCATACCCCATCCCACATTTAAGGGCAAAGACTTTCTCCTTGTTAAAGGGAAAGCACTGAGTTCATAATTAGCTTTATACCCAGAGTTTTTTTTTTTTTAAATGTTATACCTGTTTAAGAAATTTTTTGTGCTTTGAGGTGGTCAAGATCAAATTTAATTAGCAACCCTCTTCGTGATTGGCTTGCTCTGGGGACCCTGCTCTTTGAGAAGGAGGTTAGAAGGTTTAGAAGCAAACCT... |
Task1_train_8697 | A change on Chromosome 4 affects gene NFKB1 (nuclear factor kappa B subunit 1). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Common variable immunodeficiency | GTCAACTAAATCACTTTTAGATTTCCCATGGAAGTAAAAAGAAATAAGAAAACCGTGATAATTATAATCAGTGACTTTCAGTATCTTTATACATTAAAATTAATATCTGTACTTTGTTAAACAAAAATAAATAATAGCCCATTCTTGACACACATACAAACACACACACAGAATAATGTTTTACATAGTATTAAATTGTTTTTATTTCTTTTGCAATGCTTTGATATAACACTGAGAGAACTTCTCTGAACACTTCCACAGATGTGATGTTTAAGAAAAGGAAAGAAAACAGGGAATACAGGGAAATTCTCAGAGCACAT... | GTCAACTAAATCACTTTTAGATTTCCCATGGAAGTAAAAAGAAATAAGAAAACCGTGATAATTATAATCAGTGACTTTCAGTATCTTTATACATTAAAATTAATATCTGTACTTTGTTAAACAAAAATAAATAATAGCCCATTCTTGACACACATACAAACACACACACAGAATAATGTTTTACATAGTATTAAATTGTTTTTATTTCTTTTGCAATGCTTTGATATAACACTGAGAGAACTTCTCTGAACACTTCCACAGATGTGATGTTTAAGAAAAGGAAAGAAAACAGGGAATACAGGGAAATTCTCAGAGCACAT... |
Task1_train_8698 | Consider a variant on Chromosome 4 in gene MANBA (mannosidase beta). Determine its clinical classification and disease relevance. | Pathogenic; Beta-D-mannosidosis | ATACCATCAAAGTGAATAAGGTGACAACCCACAGACTGGGAGAAAATATTTGCAAATCATATACCTGATAAAATCTTATAGCCAGAATATATTTTTTTAATTTTCATAATTCAATAAAATAAAGACAAATAATTTTAAAATGATCAGGCCATGCATAGTGGCTCACACCTGTAAGCCCAGCACTTTGGGAGCCCGAGGTAGGAAGATCACTTGAGCTCAGGAGTTCCAGACCAGCCTGGATGATTTGGTGAAACTCCGTCTCTATAAAAAATACAAAAATTAGCTGGGTGTGGTGGCACACACTTGTAGTCCCAGCTTCT... | ATACCATCAAAGTGAATAAGGTGACAACCCACAGACTGGGAGAAAATATTTGCAAATCATATACCTGATAAAATCTTATAGCCAGAATATATTTTTTTAATTTTCATAATTCAATAAAATAAAGACAAATAATTTTAAAATGATCAGGCCATGCATAGTGGCTCACACCTGTAAGCCCAGCACTTTGGGAGCCCGAGGTAGGAAGATCACTTGAGCTCAGGAGTTCCAGACCAGCCTGGATGATTTGGTGAAACTCCGTCTCTATAAAAAATACAAAAATTAGCTGGGTGTGGTGGCACACACTTGTAGTCCCAGCTTCT... |
Task1_train_8699 | A variant affecting Chromosome 4, within the gene SLC9B1, CISD2 (solute carrier family 9 member B1| CDGSH iron sulfur domain 2), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Wolfram syndrome 2 | ATATGCAAACCAACCAATCCAAAGCCCATGCCCCCAACCACCTCCTTTATCTAACCCTTACACATGAAGTCAGTATTTCTCCAGTCAATATTTCTCCTGCCCTAAGTCACCCCAGGGACAGGTAGGAGACGACTAGGGACCACTACTTTTGCCCAGAACCCACTGAAATTATTCAAGCTAGCCAGTCCTGAACAGTTTCCTGCCTTGCCTTTTCCATGGAAACCACAGTAAAGGCCTGTGCCCATGCTTTTTCCCTTTCCTCTTTCTTCCTCCTGATCAACCCTAGTACCTCTCATGTGGCCCTGCATTGCATAGTGTAT... | ATATGCAAACCAACCAATCCAAAGCCCATGCCCCCAACCACCTCCTTTATCTAACCCTTACACATGAAGTCAGTATTTCTCCAGTCAATATTTCTCCTGCCCTAAGTCACCCCAGGGACAGGTAGGAGACGACTAGGGACCACTACTTTTGCCCAGAACCCACTGAAATTATTCAAGCTAGCCAGTCCTGAACAGTTTCCTGCCTTGCCTTTTCCATGGAAACCACAGTAAAGGCCTGTGCCCATGCTTTTTCCCTTTCCTCTTTCTTCCTCCTGATCAACCCTAGTACCTCTCATGTGGCCCTGCATTGCATAGTGTAT... |
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