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 |
|---|---|---|---|---|
Task1_train_6900 | The gene COL7A1 (collagen type VII alpha 1 chain) on Chromosome 3 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Recessive dystrophic epidermolysis bullosa | ACAGCCCAGGAGGTTGGCGCACACTACCCCAGGCATGGACACAGCTTGAAGGAGCCTCCTCCTCCTATCCACACACCTAGACTCACCTTCAGGCCAGAAGGTCCTTGGGGTCCTGCAGGGCCAGCAAGACCCTAGAGAAAAGGGTCAAGGGCAGGGAACAGGGCTCAGGGATTAACACAGAGAAGGCCTGGCTCATCAGCTGTGGCCAATGCCTATCCCAGCCCTTCCAGACCCTCACCAGGCAGTGTTCCCTGGTCACTCACCGGGGCACCAGGTGGTCCAGGGTCTCCATGACCACCCTGTTGTGGCGAAAAAGAGTC... | ACAGCCCAGGAGGTTGGCGCACACTACCCCAGGCATGGACACAGCTTGAAGGAGCCTCCTCCTCCTATCCACACACCTAGACTCACCTTCAGGCCAGAAGGTCCTTGGGGTCCTGCAGGGCCAGCAAGACCCTAGAGAAAAGGGTCAAGGGCAGGGAACAGGGCTCAGGGATTAACACAGAGAAGGCCTGGCTCATCAGCTGTGGCCAATGCCTATCCCAGCCCTTCCAGACCCTCACCAGGCAGTGTTCCCTGGTCACTCACCGGGGCACCAGGTGGTCCAGGGTCTCCATGACCACCCTGTTGTGGCGAAAAAGAGTC... |
Task1_train_6901 | This variant impacts the gene COL7A1 (collagen type VII alpha 1 chain) on Chromosome 3. Is the change likely to result in a pathogenic outcome? | Pathogenic; Epidermolysis bullosa dystrophica | AGGTTGGCGCACACTACCCCAGGCATGGACACAGCTTGAAGGAGCCTCCTCCTCCTATCCACACACCTAGACTCACCTTCAGGCCAGAAGGTCCTTGGGGTCCTGCAGGGCCAGCAAGACCCTAGAGAAAAGGGTCAAGGGCAGGGAACAGGGCTCAGGGATTAACACAGAGAAGGCCTGGCTCATCAGCTGTGGCCAATGCCTATCCCAGCCCTTCCAGACCCTCACCAGGCAGTGTTCCCTGGTCACTCACCGGGGCACCAGGTGGTCCAGGGTCTCCATGACCACCCTGTTGTGGCGAAAAAGAGTCTGATGAGGGG... | AGGTTGGCGCACACTACCCCAGGCATGGACACAGCTTGAAGGAGCCTCCTCCTCCTATCCACACACCTAGACTCACCTTCAGGCCAGAAGGTCCTTGGGGTCCTGCAGGGCCAGCAAGACCCTAGAGAAAAGGGTCAAGGGCAGGGAACAGGGCTCAGGGATTAACACAGAGAAGGCCTGGCTCATCAGCTGTGGCCAATGCCTATCCCAGCCCTTCCAGACCCTCACCAGGCAGTGTTCCCTGGTCACTCACCGGGGCACCAGGTGGTCCAGGGTCTCCATGACCACCCTGTTGTGGCGAAAAAGAGTCTGATGAGGGG... |
Task1_train_6902 | A variant was discovered in gene COL7A1 (collagen type VII alpha 1 chain), Chromosome 3. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Recessive dystrophic epidermolysis bullosa | ACTACCCCAGGCATGGACACAGCTTGAAGGAGCCTCCTCCTCCTATCCACACACCTAGACTCACCTTCAGGCCAGAAGGTCCTTGGGGTCCTGCAGGGCCAGCAAGACCCTAGAGAAAAGGGTCAAGGGCAGGGAACAGGGCTCAGGGATTAACACAGAGAAGGCCTGGCTCATCAGCTGTGGCCAATGCCTATCCCAGCCCTTCCAGACCCTCACCAGGCAGTGTTCCCTGGTCACTCACCGGGGCACCAGGTGGTCCAGGGTCTCCATGACCACCCTGTTGTGGCGAAAAAGAGTCTGATGAGGGGGAGTTAGCCGCA... | ACTACCCCAGGCATGGACACAGCTTGAAGGAGCCTCCTCCTCCTATCCACACACCTAGACTCACCTTCAGGCCAGAAGGTCCTTGGGGTCCTGCAGGGCCAGCAAGACCCTAGAGAAAAGGGTCAAGGGCAGGGAACAGGGCTCAGGGATTAACACAGAGAAGGCCTGGCTCATCAGCTGTGGCCAATGCCTATCCCAGCCCTTCCAGACCCTCACCAGGCAGTGTTCCCTGGTCACTCACCGGGGCACCAGGTGGTCCAGGGTCTCCATGACCACCCTGTTGTGGCGAAAAAGAGTCTGATGAGGGGGAGTTAGCCGCA... |
Task1_train_6903 | Gene COL7A1 (collagen type VII alpha 1 chain) on Chromosome 3 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Epidermolysis bullosa pruriginosa | ACTACCCCAGGCATGGACACAGCTTGAAGGAGCCTCCTCCTCCTATCCACACACCTAGACTCACCTTCAGGCCAGAAGGTCCTTGGGGTCCTGCAGGGCCAGCAAGACCCTAGAGAAAAGGGTCAAGGGCAGGGAACAGGGCTCAGGGATTAACACAGAGAAGGCCTGGCTCATCAGCTGTGGCCAATGCCTATCCCAGCCCTTCCAGACCCTCACCAGGCAGTGTTCCCTGGTCACTCACCGGGGCACCAGGTGGTCCAGGGTCTCCATGACCACCCTGTTGTGGCGAAAAAGAGTCTGATGAGGGGGAGTTAGCCGCA... | ACTACCCCAGGCATGGACACAGCTTGAAGGAGCCTCCTCCTCCTATCCACACACCTAGACTCACCTTCAGGCCAGAAGGTCCTTGGGGTCCTGCAGGGCCAGCAAGACCCTAGAGAAAAGGGTCAAGGGCAGGGAACAGGGCTCAGGGATTAACACAGAGAAGGCCTGGCTCATCAGCTGTGGCCAATGCCTATCCCAGCCCTTCCAGACCCTCACCAGGCAGTGTTCCCTGGTCACTCACCGGGGCACCAGGTGGTCCAGGGTCTCCATGACCACCCTGTTGTGGCGAAAAAGAGTCTGATGAGGGGGAGTTAGCCGCA... |
Task1_train_6904 | An alteration has been detected in COL7A1 (collagen type VII alpha 1 chain) on Chromosome 3. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Nonsyndromic congenital nail disorder 8 | ACTACCCCAGGCATGGACACAGCTTGAAGGAGCCTCCTCCTCCTATCCACACACCTAGACTCACCTTCAGGCCAGAAGGTCCTTGGGGTCCTGCAGGGCCAGCAAGACCCTAGAGAAAAGGGTCAAGGGCAGGGAACAGGGCTCAGGGATTAACACAGAGAAGGCCTGGCTCATCAGCTGTGGCCAATGCCTATCCCAGCCCTTCCAGACCCTCACCAGGCAGTGTTCCCTGGTCACTCACCGGGGCACCAGGTGGTCCAGGGTCTCCATGACCACCCTGTTGTGGCGAAAAAGAGTCTGATGAGGGGGAGTTAGCCGCA... | ACTACCCCAGGCATGGACACAGCTTGAAGGAGCCTCCTCCTCCTATCCACACACCTAGACTCACCTTCAGGCCAGAAGGTCCTTGGGGTCCTGCAGGGCCAGCAAGACCCTAGAGAAAAGGGTCAAGGGCAGGGAACAGGGCTCAGGGATTAACACAGAGAAGGCCTGGCTCATCAGCTGTGGCCAATGCCTATCCCAGCCCTTCCAGACCCTCACCAGGCAGTGTTCCCTGGTCACTCACCGGGGCACCAGGTGGTCCAGGGTCTCCATGACCACCCTGTTGTGGCGAAAAAGAGTCTGATGAGGGGGAGTTAGCCGCA... |
Task1_train_6905 | The variant affects gene COL7A1 (collagen type VII alpha 1 chain), which is on Chromosome 3. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Transient bullous dermolysis of the newborn | ACTACCCCAGGCATGGACACAGCTTGAAGGAGCCTCCTCCTCCTATCCACACACCTAGACTCACCTTCAGGCCAGAAGGTCCTTGGGGTCCTGCAGGGCCAGCAAGACCCTAGAGAAAAGGGTCAAGGGCAGGGAACAGGGCTCAGGGATTAACACAGAGAAGGCCTGGCTCATCAGCTGTGGCCAATGCCTATCCCAGCCCTTCCAGACCCTCACCAGGCAGTGTTCCCTGGTCACTCACCGGGGCACCAGGTGGTCCAGGGTCTCCATGACCACCCTGTTGTGGCGAAAAAGAGTCTGATGAGGGGGAGTTAGCCGCA... | ACTACCCCAGGCATGGACACAGCTTGAAGGAGCCTCCTCCTCCTATCCACACACCTAGACTCACCTTCAGGCCAGAAGGTCCTTGGGGTCCTGCAGGGCCAGCAAGACCCTAGAGAAAAGGGTCAAGGGCAGGGAACAGGGCTCAGGGATTAACACAGAGAAGGCCTGGCTCATCAGCTGTGGCCAATGCCTATCCCAGCCCTTCCAGACCCTCACCAGGCAGTGTTCCCTGGTCACTCACCGGGGCACCAGGTGGTCCAGGGTCTCCATGACCACCCTGTTGTGGCGAAAAAGAGTCTGATGAGGGGGAGTTAGCCGCA... |
Task1_train_6906 | A mutation in COL7A1 (collagen type VII alpha 1 chain), located on Chromosome 3, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Pretibial dystrophic epidermolysis bullosa | ACTACCCCAGGCATGGACACAGCTTGAAGGAGCCTCCTCCTCCTATCCACACACCTAGACTCACCTTCAGGCCAGAAGGTCCTTGGGGTCCTGCAGGGCCAGCAAGACCCTAGAGAAAAGGGTCAAGGGCAGGGAACAGGGCTCAGGGATTAACACAGAGAAGGCCTGGCTCATCAGCTGTGGCCAATGCCTATCCCAGCCCTTCCAGACCCTCACCAGGCAGTGTTCCCTGGTCACTCACCGGGGCACCAGGTGGTCCAGGGTCTCCATGACCACCCTGTTGTGGCGAAAAAGAGTCTGATGAGGGGGAGTTAGCCGCA... | ACTACCCCAGGCATGGACACAGCTTGAAGGAGCCTCCTCCTCCTATCCACACACCTAGACTCACCTTCAGGCCAGAAGGTCCTTGGGGTCCTGCAGGGCCAGCAAGACCCTAGAGAAAAGGGTCAAGGGCAGGGAACAGGGCTCAGGGATTAACACAGAGAAGGCCTGGCTCATCAGCTGTGGCCAATGCCTATCCCAGCCCTTCCAGACCCTCACCAGGCAGTGTTCCCTGGTCACTCACCGGGGCACCAGGTGGTCCAGGGTCTCCATGACCACCCTGTTGTGGCGAAAAAGAGTCTGATGAGGGGGAGTTAGCCGCA... |
Task1_train_6907 | Here’s a variant in COL7A1 (collagen type VII alpha 1 chain) located on Chromosome 3. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Dominant dystrophic epidermolysis bullosa with absence of skin | ACTACCCCAGGCATGGACACAGCTTGAAGGAGCCTCCTCCTCCTATCCACACACCTAGACTCACCTTCAGGCCAGAAGGTCCTTGGGGTCCTGCAGGGCCAGCAAGACCCTAGAGAAAAGGGTCAAGGGCAGGGAACAGGGCTCAGGGATTAACACAGAGAAGGCCTGGCTCATCAGCTGTGGCCAATGCCTATCCCAGCCCTTCCAGACCCTCACCAGGCAGTGTTCCCTGGTCACTCACCGGGGCACCAGGTGGTCCAGGGTCTCCATGACCACCCTGTTGTGGCGAAAAAGAGTCTGATGAGGGGGAGTTAGCCGCA... | ACTACCCCAGGCATGGACACAGCTTGAAGGAGCCTCCTCCTCCTATCCACACACCTAGACTCACCTTCAGGCCAGAAGGTCCTTGGGGTCCTGCAGGGCCAGCAAGACCCTAGAGAAAAGGGTCAAGGGCAGGGAACAGGGCTCAGGGATTAACACAGAGAAGGCCTGGCTCATCAGCTGTGGCCAATGCCTATCCCAGCCCTTCCAGACCCTCACCAGGCAGTGTTCCCTGGTCACTCACCGGGGCACCAGGTGGTCCAGGGTCTCCATGACCACCCTGTTGTGGCGAAAAAGAGTCTGATGAGGGGGAGTTAGCCGCA... |
Task1_train_6908 | A sequence alteration has been identified in COL7A1 (collagen type VII alpha 1 chain) on Chromosome 3. Is it disease-inducing or harmless? | Pathogenic; Generalized dominant dystrophic epidermolysis bullosa | ACTACCCCAGGCATGGACACAGCTTGAAGGAGCCTCCTCCTCCTATCCACACACCTAGACTCACCTTCAGGCCAGAAGGTCCTTGGGGTCCTGCAGGGCCAGCAAGACCCTAGAGAAAAGGGTCAAGGGCAGGGAACAGGGCTCAGGGATTAACACAGAGAAGGCCTGGCTCATCAGCTGTGGCCAATGCCTATCCCAGCCCTTCCAGACCCTCACCAGGCAGTGTTCCCTGGTCACTCACCGGGGCACCAGGTGGTCCAGGGTCTCCATGACCACCCTGTTGTGGCGAAAAAGAGTCTGATGAGGGGGAGTTAGCCGCA... | ACTACCCCAGGCATGGACACAGCTTGAAGGAGCCTCCTCCTCCTATCCACACACCTAGACTCACCTTCAGGCCAGAAGGTCCTTGGGGTCCTGCAGGGCCAGCAAGACCCTAGAGAAAAGGGTCAAGGGCAGGGAACAGGGCTCAGGGATTAACACAGAGAAGGCCTGGCTCATCAGCTGTGGCCAATGCCTATCCCAGCCCTTCCAGACCCTCACCAGGCAGTGTTCCCTGGTCACTCACCGGGGCACCAGGTGGTCCAGGGTCTCCATGACCACCCTGTTGTGGCGAAAAAGAGTCTGATGAGGGGGAGTTAGCCGCA... |
Task1_train_6909 | Consider this mutation in COL7A1 (collagen type VII alpha 1 chain) on Chromosome 3. Is this a benign change or a disease-causing variant? | Pathogenic; Epidermolysis bullosa | CCCAGGCATGGACACAGCTTGAAGGAGCCTCCTCCTCCTATCCACACACCTAGACTCACCTTCAGGCCAGAAGGTCCTTGGGGTCCTGCAGGGCCAGCAAGACCCTAGAGAAAAGGGTCAAGGGCAGGGAACAGGGCTCAGGGATTAACACAGAGAAGGCCTGGCTCATCAGCTGTGGCCAATGCCTATCCCAGCCCTTCCAGACCCTCACCAGGCAGTGTTCCCTGGTCACTCACCGGGGCACCAGGTGGTCCAGGGTCTCCATGACCACCCTGTTGTGGCGAAAAAGAGTCTGATGAGGGGGAGTTAGCCGCACCCCA... | CCCAGGCATGGACACAGCTTGAAGGAGCCTCCTCCTCCTATCCACACACCTAGACTCACCTTCAGGCCAGAAGGTCCTTGGGGTCCTGCAGGGCCAGCAAGACCCTAGAGAAAAGGGTCAAGGGCAGGGAACAGGGCTCAGGGATTAACACAGAGAAGGCCTGGCTCATCAGCTGTGGCCAATGCCTATCCCAGCCCTTCCAGACCCTCACCAGGCAGTGTTCCCTGGTCACTCACCGGGGCACCAGGTGGTCCAGGGTCTCCATGACCACCCTGTTGTGGCGAAAAAGAGTCTGATGAGGGGGAGTTAGCCGCACCCCA... |
Task1_train_6910 | Given a variant located on Chromosome 3 and affecting COL7A1 (collagen type VII alpha 1 chain), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Inborn genetic diseases | GACACAGCTTGAAGGAGCCTCCTCCTCCTATCCACACACCTAGACTCACCTTCAGGCCAGAAGGTCCTTGGGGTCCTGCAGGGCCAGCAAGACCCTAGAGAAAAGGGTCAAGGGCAGGGAACAGGGCTCAGGGATTAACACAGAGAAGGCCTGGCTCATCAGCTGTGGCCAATGCCTATCCCAGCCCTTCCAGACCCTCACCAGGCAGTGTTCCCTGGTCACTCACCGGGGCACCAGGTGGTCCAGGGTCTCCATGACCACCCTGTTGTGGCGAAAAAGAGTCTGATGAGGGGGAGTTAGCCGCACCCCACCAAGGAAAC... | GACACAGCTTGAAGGAGCCTCCTCCTCCTATCCACACACCTAGACTCACCTTCAGGCCAGAAGGTCCTTGGGGTCCTGCAGGGCCAGCAAGACCCTAGAGAAAAGGGTCAAGGGCAGGGAACAGGGCTCAGGGATTAACACAGAGAAGGCCTGGCTCATCAGCTGTGGCCAATGCCTATCCCAGCCCTTCCAGACCCTCACCAGGCAGTGTTCCCTGGTCACTCACCGGGGCACCAGGTGGTCCAGGGTCTCCATGACCACCCTGTTGTGGCGAAAAAGAGTCTGATGAGGGGGAGTTAGCCGCACCCCACCAAGGAAAC... |
Task1_train_6911 | A variant on Chromosome 3 in gene COL7A1 (collagen type VII alpha 1 chain) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Generalized dominant dystrophic epidermolysis bullosa | GACACAGCTTGAAGGAGCCTCCTCCTCCTATCCACACACCTAGACTCACCTTCAGGCCAGAAGGTCCTTGGGGTCCTGCAGGGCCAGCAAGACCCTAGAGAAAAGGGTCAAGGGCAGGGAACAGGGCTCAGGGATTAACACAGAGAAGGCCTGGCTCATCAGCTGTGGCCAATGCCTATCCCAGCCCTTCCAGACCCTCACCAGGCAGTGTTCCCTGGTCACTCACCGGGGCACCAGGTGGTCCAGGGTCTCCATGACCACCCTGTTGTGGCGAAAAAGAGTCTGATGAGGGGGAGTTAGCCGCACCCCACCAAGGAAAC... | GACACAGCTTGAAGGAGCCTCCTCCTCCTATCCACACACCTAGACTCACCTTCAGGCCAGAAGGTCCTTGGGGTCCTGCAGGGCCAGCAAGACCCTAGAGAAAAGGGTCAAGGGCAGGGAACAGGGCTCAGGGATTAACACAGAGAAGGCCTGGCTCATCAGCTGTGGCCAATGCCTATCCCAGCCCTTCCAGACCCTCACCAGGCAGTGTTCCCTGGTCACTCACCGGGGCACCAGGTGGTCCAGGGTCTCCATGACCACCCTGTTGTGGCGAAAAAGAGTCTGATGAGGGGGAGTTAGCCGCACCCCACCAAGGAAAC... |
Task1_train_6912 | The following genetic variant occurs in COL7A1 (collagen type VII alpha 1 chain) on Chromosome 3. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Recessive dystrophic epidermolysis bullosa | CACCGGGGCACCAGGTGGTCCAGGGTCTCCATGACCACCCTGTTGTGGCGAAAAAGAGTCTGATGAGGGGGAGTTAGCCGCACCCCACCAAGGAAACTGAGGCAGTACTGGTCACTGGGGCAGGGCACAGGATGGGGGCAAGACAGGTGAAGGTTCTTGGGTACTCACCACTGGGCCAGGGGGGCCTCTTGGACCCTGCAGACCCTACATAGAGAGGGCACTGATGAGCCTCAATCTGGGCCTCACTTGGGCCTGTTCCCAACCTCTGGGGGCTTTTTCCTTGGGGGTCAATTTCCATACCTCACCCTTTCCAGTCACAG... | CACCGGGGCACCAGGTGGTCCAGGGTCTCCATGACCACCCTGTTGTGGCGAAAAAGAGTCTGATGAGGGGGAGTTAGCCGCACCCCACCAAGGAAACTGAGGCAGTACTGGTCACTGGGGCAGGGCACAGGATGGGGGCAAGACAGGTGAAGGTTCTTGGGTACTCACCACTGGGCCAGGGGGGCCTCTTGGACCCTGCAGACCCTACATAGAGAGGGCACTGATGAGCCTCAATCTGGGCCTCACTTGGGCCTGTTCCCAACCTCTGGGGGCTTTTTCCTTGGGGGTCAATTTCCATACCTCACCCTTTCCAGTCACAG... |
Task1_train_6913 | Consider a variant on Chromosome 3 in gene COL7A1 (collagen type VII alpha 1 chain). Determine its clinical classification and disease relevance. | Pathogenic; Pretibial dystrophic epidermolysis bullosa | CACCGGGGCACCAGGTGGTCCAGGGTCTCCATGACCACCCTGTTGTGGCGAAAAAGAGTCTGATGAGGGGGAGTTAGCCGCACCCCACCAAGGAAACTGAGGCAGTACTGGTCACTGGGGCAGGGCACAGGATGGGGGCAAGACAGGTGAAGGTTCTTGGGTACTCACCACTGGGCCAGGGGGGCCTCTTGGACCCTGCAGACCCTACATAGAGAGGGCACTGATGAGCCTCAATCTGGGCCTCACTTGGGCCTGTTCCCAACCTCTGGGGGCTTTTTCCTTGGGGGTCAATTTCCATACCTCACCCTTTCCAGTCACAG... | CACCGGGGCACCAGGTGGTCCAGGGTCTCCATGACCACCCTGTTGTGGCGAAAAAGAGTCTGATGAGGGGGAGTTAGCCGCACCCCACCAAGGAAACTGAGGCAGTACTGGTCACTGGGGCAGGGCACAGGATGGGGGCAAGACAGGTGAAGGTTCTTGGGTACTCACCACTGGGCCAGGGGGGCCTCTTGGACCCTGCAGACCCTACATAGAGAGGGCACTGATGAGCCTCAATCTGGGCCTCACTTGGGCCTGTTCCCAACCTCTGGGGGCTTTTTCCTTGGGGGTCAATTTCCATACCTCACCCTTTCCAGTCACAG... |
Task1_train_6914 | Consider this mutation in COL7A1 (collagen type VII alpha 1 chain) on Chromosome 3. Is this a benign change or a disease-causing variant? | Pathogenic; Dominant dystrophic epidermolysis bullosa with absence of skin | CACCGGGGCACCAGGTGGTCCAGGGTCTCCATGACCACCCTGTTGTGGCGAAAAAGAGTCTGATGAGGGGGAGTTAGCCGCACCCCACCAAGGAAACTGAGGCAGTACTGGTCACTGGGGCAGGGCACAGGATGGGGGCAAGACAGGTGAAGGTTCTTGGGTACTCACCACTGGGCCAGGGGGGCCTCTTGGACCCTGCAGACCCTACATAGAGAGGGCACTGATGAGCCTCAATCTGGGCCTCACTTGGGCCTGTTCCCAACCTCTGGGGGCTTTTTCCTTGGGGGTCAATTTCCATACCTCACCCTTTCCAGTCACAG... | CACCGGGGCACCAGGTGGTCCAGGGTCTCCATGACCACCCTGTTGTGGCGAAAAAGAGTCTGATGAGGGGGAGTTAGCCGCACCCCACCAAGGAAACTGAGGCAGTACTGGTCACTGGGGCAGGGCACAGGATGGGGGCAAGACAGGTGAAGGTTCTTGGGTACTCACCACTGGGCCAGGGGGGCCTCTTGGACCCTGCAGACCCTACATAGAGAGGGCACTGATGAGCCTCAATCTGGGCCTCACTTGGGCCTGTTCCCAACCTCTGGGGGCTTTTTCCTTGGGGGTCAATTTCCATACCTCACCCTTTCCAGTCACAG... |
Task1_train_6915 | A variant was discovered in gene COL7A1 (collagen type VII alpha 1 chain), Chromosome 3. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Transient bullous dermolysis of the newborn | CACCGGGGCACCAGGTGGTCCAGGGTCTCCATGACCACCCTGTTGTGGCGAAAAAGAGTCTGATGAGGGGGAGTTAGCCGCACCCCACCAAGGAAACTGAGGCAGTACTGGTCACTGGGGCAGGGCACAGGATGGGGGCAAGACAGGTGAAGGTTCTTGGGTACTCACCACTGGGCCAGGGGGGCCTCTTGGACCCTGCAGACCCTACATAGAGAGGGCACTGATGAGCCTCAATCTGGGCCTCACTTGGGCCTGTTCCCAACCTCTGGGGGCTTTTTCCTTGGGGGTCAATTTCCATACCTCACCCTTTCCAGTCACAG... | CACCGGGGCACCAGGTGGTCCAGGGTCTCCATGACCACCCTGTTGTGGCGAAAAAGAGTCTGATGAGGGGGAGTTAGCCGCACCCCACCAAGGAAACTGAGGCAGTACTGGTCACTGGGGCAGGGCACAGGATGGGGGCAAGACAGGTGAAGGTTCTTGGGTACTCACCACTGGGCCAGGGGGGCCTCTTGGACCCTGCAGACCCTACATAGAGAGGGCACTGATGAGCCTCAATCTGGGCCTCACTTGGGCCTGTTCCCAACCTCTGGGGGCTTTTTCCTTGGGGGTCAATTTCCATACCTCACCCTTTCCAGTCACAG... |
Task1_train_6916 | The gene COL7A1 (collagen type VII alpha 1 chain) on Chromosome 3 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Epidermolysis bullosa pruriginosa | CACCGGGGCACCAGGTGGTCCAGGGTCTCCATGACCACCCTGTTGTGGCGAAAAAGAGTCTGATGAGGGGGAGTTAGCCGCACCCCACCAAGGAAACTGAGGCAGTACTGGTCACTGGGGCAGGGCACAGGATGGGGGCAAGACAGGTGAAGGTTCTTGGGTACTCACCACTGGGCCAGGGGGGCCTCTTGGACCCTGCAGACCCTACATAGAGAGGGCACTGATGAGCCTCAATCTGGGCCTCACTTGGGCCTGTTCCCAACCTCTGGGGGCTTTTTCCTTGGGGGTCAATTTCCATACCTCACCCTTTCCAGTCACAG... | CACCGGGGCACCAGGTGGTCCAGGGTCTCCATGACCACCCTGTTGTGGCGAAAAAGAGTCTGATGAGGGGGAGTTAGCCGCACCCCACCAAGGAAACTGAGGCAGTACTGGTCACTGGGGCAGGGCACAGGATGGGGGCAAGACAGGTGAAGGTTCTTGGGTACTCACCACTGGGCCAGGGGGGCCTCTTGGACCCTGCAGACCCTACATAGAGAGGGCACTGATGAGCCTCAATCTGGGCCTCACTTGGGCCTGTTCCCAACCTCTGGGGGCTTTTTCCTTGGGGGTCAATTTCCATACCTCACCCTTTCCAGTCACAG... |
Task1_train_6917 | The variant affects gene COL7A1 (collagen type VII alpha 1 chain), which is on Chromosome 3. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Nonsyndromic congenital nail disorder 8 | CACCGGGGCACCAGGTGGTCCAGGGTCTCCATGACCACCCTGTTGTGGCGAAAAAGAGTCTGATGAGGGGGAGTTAGCCGCACCCCACCAAGGAAACTGAGGCAGTACTGGTCACTGGGGCAGGGCACAGGATGGGGGCAAGACAGGTGAAGGTTCTTGGGTACTCACCACTGGGCCAGGGGGGCCTCTTGGACCCTGCAGACCCTACATAGAGAGGGCACTGATGAGCCTCAATCTGGGCCTCACTTGGGCCTGTTCCCAACCTCTGGGGGCTTTTTCCTTGGGGGTCAATTTCCATACCTCACCCTTTCCAGTCACAG... | CACCGGGGCACCAGGTGGTCCAGGGTCTCCATGACCACCCTGTTGTGGCGAAAAAGAGTCTGATGAGGGGGAGTTAGCCGCACCCCACCAAGGAAACTGAGGCAGTACTGGTCACTGGGGCAGGGCACAGGATGGGGGCAAGACAGGTGAAGGTTCTTGGGTACTCACCACTGGGCCAGGGGGGCCTCTTGGACCCTGCAGACCCTACATAGAGAGGGCACTGATGAGCCTCAATCTGGGCCTCACTTGGGCCTGTTCCCAACCTCTGGGGGCTTTTTCCTTGGGGGTCAATTTCCATACCTCACCCTTTCCAGTCACAG... |
Task1_train_6918 | This mutation is located in gene COL7A1 (collagen type VII alpha 1 chain) on Chromosome 3. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Generalized dominant dystrophic epidermolysis bullosa | CACCGGGGCACCAGGTGGTCCAGGGTCTCCATGACCACCCTGTTGTGGCGAAAAAGAGTCTGATGAGGGGGAGTTAGCCGCACCCCACCAAGGAAACTGAGGCAGTACTGGTCACTGGGGCAGGGCACAGGATGGGGGCAAGACAGGTGAAGGTTCTTGGGTACTCACCACTGGGCCAGGGGGGCCTCTTGGACCCTGCAGACCCTACATAGAGAGGGCACTGATGAGCCTCAATCTGGGCCTCACTTGGGCCTGTTCCCAACCTCTGGGGGCTTTTTCCTTGGGGGTCAATTTCCATACCTCACCCTTTCCAGTCACAG... | CACCGGGGCACCAGGTGGTCCAGGGTCTCCATGACCACCCTGTTGTGGCGAAAAAGAGTCTGATGAGGGGGAGTTAGCCGCACCCCACCAAGGAAACTGAGGCAGTACTGGTCACTGGGGCAGGGCACAGGATGGGGGCAAGACAGGTGAAGGTTCTTGGGTACTCACCACTGGGCCAGGGGGGCCTCTTGGACCCTGCAGACCCTACATAGAGAGGGCACTGATGAGCCTCAATCTGGGCCTCACTTGGGCCTGTTCCCAACCTCTGGGGGCTTTTTCCTTGGGGGTCAATTTCCATACCTCACCCTTTCCAGTCACAG... |
Task1_train_6919 | This gene mutation involves COL7A1 (collagen type VII alpha 1 chain) on Chromosome 3. Is it associated with any clinical condition, or is it benign? | Pathogenic; Recessive dystrophic epidermolysis bullosa | CACCGGGGCACCAGGTGGTCCAGGGTCTCCATGACCACCCTGTTGTGGCGAAAAAGAGTCTGATGAGGGGGAGTTAGCCGCACCCCACCAAGGAAACTGAGGCAGTACTGGTCACTGGGGCAGGGCACAGGATGGGGGCAAGACAGGTGAAGGTTCTTGGGTACTCACCACTGGGCCAGGGGGGCCTCTTGGACCCTGCAGACCCTACATAGAGAGGGCACTGATGAGCCTCAATCTGGGCCTCACTTGGGCCTGTTCCCAACCTCTGGGGGCTTTTTCCTTGGGGGTCAATTTCCATACCTCACCCTTTCCAGTCACAG... | CACCGGGGCACCAGGTGGTCCAGGGTCTCCATGACCACCCTGTTGTGGCGAAAAAGAGTCTGATGAGGGGGAGTTAGCCGCACCCCACCAAGGAAACTGAGGCAGTACTGGTCACTGGGGCAGGGCACAGGATGGGGGCAAGACAGGTGAAGGTTCTTGGGTACTCACCACTGGGCCAGGGGGGCCTCTTGGACCCTGCAGACCCTACATAGAGAGGGCACTGATGAGCCTCAATCTGGGCCTCACTTGGGCCTGTTCCCAACCTCTGGGGGCTTTTTCCTTGGGGGTCAATTTCCATACCTCACCCTTTCCAGTCACAG... |
Task1_train_6920 | Here’s a variant in COL7A1 (collagen type VII alpha 1 chain) located on Chromosome 3. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Recessive dystrophic epidermolysis bullosa | ACCGGGGCACCAGGTGGTCCAGGGTCTCCATGACCACCCTGTTGTGGCGAAAAAGAGTCTGATGAGGGGGAGTTAGCCGCACCCCACCAAGGAAACTGAGGCAGTACTGGTCACTGGGGCAGGGCACAGGATGGGGGCAAGACAGGTGAAGGTTCTTGGGTACTCACCACTGGGCCAGGGGGGCCTCTTGGACCCTGCAGACCCTACATAGAGAGGGCACTGATGAGCCTCAATCTGGGCCTCACTTGGGCCTGTTCCCAACCTCTGGGGGCTTTTTCCTTGGGGGTCAATTTCCATACCTCACCCTTTCCAGTCACAGA... | ACCGGGGCACCAGGTGGTCCAGGGTCTCCATGACCACCCTGTTGTGGCGAAAAAGAGTCTGATGAGGGGGAGTTAGCCGCACCCCACCAAGGAAACTGAGGCAGTACTGGTCACTGGGGCAGGGCACAGGATGGGGGCAAGACAGGTGAAGGTTCTTGGGTACTCACCACTGGGCCAGGGGGGCCTCTTGGACCCTGCAGACCCTACATAGAGAGGGCACTGATGAGCCTCAATCTGGGCCTCACTTGGGCCTGTTCCCAACCTCTGGGGGCTTTTTCCTTGGGGGTCAATTTCCATACCTCACCCTTTCCAGTCACAGA... |
Task1_train_6921 | This sequence variant lies in COL7A1 (collagen type VII alpha 1 chain) on Chromosome 3. Is it clinically significant, and what condition might it cause if any? | Pathogenic; not specified | ACCGGGGCACCAGGTGGTCCAGGGTCTCCATGACCACCCTGTTGTGGCGAAAAAGAGTCTGATGAGGGGGAGTTAGCCGCACCCCACCAAGGAAACTGAGGCAGTACTGGTCACTGGGGCAGGGCACAGGATGGGGGCAAGACAGGTGAAGGTTCTTGGGTACTCACCACTGGGCCAGGGGGGCCTCTTGGACCCTGCAGACCCTACATAGAGAGGGCACTGATGAGCCTCAATCTGGGCCTCACTTGGGCCTGTTCCCAACCTCTGGGGGCTTTTTCCTTGGGGGTCAATTTCCATACCTCACCCTTTCCAGTCACAGA... | ACCGGGGCACCAGGTGGTCCAGGGTCTCCATGACCACCCTGTTGTGGCGAAAAAGAGTCTGATGAGGGGGAGTTAGCCGCACCCCACCAAGGAAACTGAGGCAGTACTGGTCACTGGGGCAGGGCACAGGATGGGGGCAAGACAGGTGAAGGTTCTTGGGTACTCACCACTGGGCCAGGGGGGCCTCTTGGACCCTGCAGACCCTACATAGAGAGGGCACTGATGAGCCTCAATCTGGGCCTCACTTGGGCCTGTTCCCAACCTCTGGGGGCTTTTTCCTTGGGGGTCAATTTCCATACCTCACCCTTTCCAGTCACAGA... |
Task1_train_6922 | The gene COL7A1 (collagen type VII alpha 1 chain) is located on Chromosome 3, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Epidermolysis bullosa dystrophica | CCTCCACCCACCATCCCCCTAGACAGAGTCAGGACCCAGACAGTCCCAGGCAGTACAGACCCCAGCCCTGCACACAGGACAATACATGTGAGAGCCACCTTCTTGCACATGTGTGGCTGTTGGGCAAGGACTTACCGGGTTGCCGTCCTGACCCCTCGGTCCAGGCTCTCCCCGGTCTCCTTTGATGCCTGGCACACCCTGAAGGCAGAGTGTCGTGCCCTGAGCCCCCAGTCCCTGCCACGTGCCCAGGTGCATATGCACACCACCTCTAGTGTGCCCCCAGAAAGGAGGGGGACTCTATGGAAGGGTGGAGAGAGGCC... | CCTCCACCCACCATCCCCCTAGACAGAGTCAGGACCCAGACAGTCCCAGGCAGTACAGACCCCAGCCCTGCACACAGGACAATACATGTGAGAGCCACCTTCTTGCACATGTGTGGCTGTTGGGCAAGGACTTACCGGGTTGCCGTCCTGACCCCTCGGTCCAGGCTCTCCCCGGTCTCCTTTGATGCCTGGCACACCCTGAAGGCAGAGTGTCGTGCCCTGAGCCCCCAGTCCCTGCCACGTGCCCAGGTGCATATGCACACCACCTCTAGTGTGCCCCCAGAAAGGAGGGGGACTCTATGGAAGGGTGGAGAGAGGCC... |
Task1_train_6923 | This genomic variant is located on Chromosome 3, within the COL7A1 (collagen type VII alpha 1 chain) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Epidermolysis bullosa dystrophica | CCCTAGACAGAGTCAGGACCCAGACAGTCCCAGGCAGTACAGACCCCAGCCCTGCACACAGGACAATACATGTGAGAGCCACCTTCTTGCACATGTGTGGCTGTTGGGCAAGGACTTACCGGGTTGCCGTCCTGACCCCTCGGTCCAGGCTCTCCCCGGTCTCCTTTGATGCCTGGCACACCCTGAAGGCAGAGTGTCGTGCCCTGAGCCCCCAGTCCCTGCCACGTGCCCAGGTGCATATGCACACCACCTCTAGTGTGCCCCCAGAAAGGAGGGGGACTCTATGGAAGGGTGGAGAGAGGCCTCACCCTGTCTCCTTT... | CCCTAGACAGAGTCAGGACCCAGACAGTCCCAGGCAGTACAGACCCCAGCCCTGCACACAGGACAATACATGTGAGAGCCACCTTCTTGCACATGTGTGGCTGTTGGGCAAGGACTTACCGGGTTGCCGTCCTGACCCCTCGGTCCAGGCTCTCCCCGGTCTCCTTTGATGCCTGGCACACCCTGAAGGCAGAGTGTCGTGCCCTGAGCCCCCAGTCCCTGCCACGTGCCCAGGTGCATATGCACACCACCTCTAGTGTGCCCCCAGAAAGGAGGGGGACTCTATGGAAGGGTGGAGAGAGGCCTCACCCTGTCTCCTTT... |
Task1_train_6924 | A variant affecting Chromosome 3, within the gene COL7A1 (collagen type VII alpha 1 chain), has been observed. Determine if it's benign or associated with disease. | Pathogenic; not provided | GTCACCCTGAAAACAAGAATGACCAGGTGGGGAAATGGCCCCCAGCCTGGTCAGCCCCCTCACCACGCCCCCTACCCAACATCCGCACTCACCTTGGGGCCCGTGCCTCCTGGGACACCAGGAAAACCCTGAGATACGGCAGAACACAAAGGGGTCACAAAGGCCCATGGCTTCCCAGGAGGGTTGCCCATTGAAACATCATGGCTTCTAATGCTCTGAAGTCCCAGAATGACCCAGGACACTCACCTGGCCAGGAGGGCCCACTGGCCCTGGGAGGCCTGGAGGCCCCTGGGGTCCAAGGATACCAGGAGCTCCACGCT... | GTCACCCTGAAAACAAGAATGACCAGGTGGGGAAATGGCCCCCAGCCTGGTCAGCCCCCTCACCACGCCCCCTACCCAACATCCGCACTCACCTTGGGGCCCGTGCCTCCTGGGACACCAGGAAAACCCTGAGATACGGCAGAACACAAAGGGGTCACAAAGGCCCATGGCTTCCCAGGAGGGTTGCCCATTGAAACATCATGGCTTCTAATGCTCTGAAGTCCCAGAATGACCCAGGACACTCACCTGGCCAGGAGGGCCCACTGGCCCTGGGAGGCCTGGAGGCCCCTGGGGTCCAAGGATACCAGGAGCTCCACGCT... |
Task1_train_6925 | A mutation found in COL7A1 (collagen type VII alpha 1 chain) on Chromosome 3 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Nonsyndromic congenital nail disorder 8 | TGACCAGGTGGGGAAATGGCCCCCAGCCTGGTCAGCCCCCTCACCACGCCCCCTACCCAACATCCGCACTCACCTTGGGGCCCGTGCCTCCTGGGACACCAGGAAAACCCTGAGATACGGCAGAACACAAAGGGGTCACAAAGGCCCATGGCTTCCCAGGAGGGTTGCCCATTGAAACATCATGGCTTCTAATGCTCTGAAGTCCCAGAATGACCCAGGACACTCACCTGGCCAGGAGGGCCCACTGGCCCTGGGAGGCCTGGAGGCCCCTGGGGTCCAAGGATACCAGGAGCTCCACGCTCACCCTTGGGGCCATCACG... | TGACCAGGTGGGGAAATGGCCCCCAGCCTGGTCAGCCCCCTCACCACGCCCCCTACCCAACATCCGCACTCACCTTGGGGCCCGTGCCTCCTGGGACACCAGGAAAACCCTGAGATACGGCAGAACACAAAGGGGTCACAAAGGCCCATGGCTTCCCAGGAGGGTTGCCCATTGAAACATCATGGCTTCTAATGCTCTGAAGTCCCAGAATGACCCAGGACACTCACCTGGCCAGGAGGGCCCACTGGCCCTGGGAGGCCTGGAGGCCCCTGGGGTCCAAGGATACCAGGAGCTCCACGCTCACCCTTGGGGCCATCACG... |
Task1_train_6926 | The gene COL7A1 (collagen type VII alpha 1 chain), on Chromosome 3, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Recessive dystrophic epidermolysis bullosa | TGACCAGGTGGGGAAATGGCCCCCAGCCTGGTCAGCCCCCTCACCACGCCCCCTACCCAACATCCGCACTCACCTTGGGGCCCGTGCCTCCTGGGACACCAGGAAAACCCTGAGATACGGCAGAACACAAAGGGGTCACAAAGGCCCATGGCTTCCCAGGAGGGTTGCCCATTGAAACATCATGGCTTCTAATGCTCTGAAGTCCCAGAATGACCCAGGACACTCACCTGGCCAGGAGGGCCCACTGGCCCTGGGAGGCCTGGAGGCCCCTGGGGTCCAAGGATACCAGGAGCTCCACGCTCACCCTTGGGGCCATCACG... | TGACCAGGTGGGGAAATGGCCCCCAGCCTGGTCAGCCCCCTCACCACGCCCCCTACCCAACATCCGCACTCACCTTGGGGCCCGTGCCTCCTGGGACACCAGGAAAACCCTGAGATACGGCAGAACACAAAGGGGTCACAAAGGCCCATGGCTTCCCAGGAGGGTTGCCCATTGAAACATCATGGCTTCTAATGCTCTGAAGTCCCAGAATGACCCAGGACACTCACCTGGCCAGGAGGGCCCACTGGCCCTGGGAGGCCTGGAGGCCCCTGGGGTCCAAGGATACCAGGAGCTCCACGCTCACCCTTGGGGCCATCACG... |
Task1_train_6927 | This gene mutation involves COL7A1, MIR711 (collagen type VII alpha 1 chain| microRNA 711) on Chromosome 3. Is it associated with any clinical condition, or is it benign? | Pathogenic; Epidermolysis bullosa dystrophica | CTCCCAGAGGCGCCTGAATCTCCTTTCTCTCCCTAAGGAAGACAAGGATGCTTCAGGCATGGCTCCAAGCAGAGACCAGAGAGACCCCAGGTGGGGGACTTTACCTTCCTCCCGTCTTCTCCAGGGTCCCCAGGTTCTCCCTGTGGGCAGAGGACTCACATCAGCCCAAACATTCACTGGTGTCTGGCTGCAAGACACTACCTTGCTAGATTTCAGATGACTGTGACTGTATTTCTGTGCCTGTAGCTCCATGGTTGTGTGTGTCTTGGAGCATGGCCTGTGGCCGTCTGAGTGAGCTGCTACATGTCTAAGGGTGTGCC... | CTCCCAGAGGCGCCTGAATCTCCTTTCTCTCCCTAAGGAAGACAAGGATGCTTCAGGCATGGCTCCAAGCAGAGACCAGAGAGACCCCAGGTGGGGGACTTTACCTTCCTCCCGTCTTCTCCAGGGTCCCCAGGTTCTCCCTGTGGGCAGAGGACTCACATCAGCCCAAACATTCACTGGTGTCTGGCTGCAAGACACTACCTTGCTAGATTTCAGATGACTGTGACTGTATTTCTGTGCCTGTAGCTCCATGGTTGTGTGTGTCTTGGAGCATGGCCTGTGGCCGTCTGAGTGAGCTGCTACATGTCTAAGGGTGTGCC... |
Task1_train_6928 | This variant affects the gene COL7A1, MIR711 (collagen type VII alpha 1 chain| microRNA 711) found on Chromosome 3. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Epidermolysis bullosa dystrophica | ATCTCCTTTCTCTCCCTAAGGAAGACAAGGATGCTTCAGGCATGGCTCCAAGCAGAGACCAGAGAGACCCCAGGTGGGGGACTTTACCTTCCTCCCGTCTTCTCCAGGGTCCCCAGGTTCTCCCTGTGGGCAGAGGACTCACATCAGCCCAAACATTCACTGGTGTCTGGCTGCAAGACACTACCTTGCTAGATTTCAGATGACTGTGACTGTATTTCTGTGCCTGTAGCTCCATGGTTGTGTGTGTCTTGGAGCATGGCCTGTGGCCGTCTGAGTGAGCTGCTACATGTCTAAGGGTGTGCCTGCATAGGCCTGCTCAC... | ATCTCCTTTCTCTCCCTAAGGAAGACAAGGATGCTTCAGGCATGGCTCCAAGCAGAGACCAGAGAGACCCCAGGTGGGGGACTTTACCTTCCTCCCGTCTTCTCCAGGGTCCCCAGGTTCTCCCTGTGGGCAGAGGACTCACATCAGCCCAAACATTCACTGGTGTCTGGCTGCAAGACACTACCTTGCTAGATTTCAGATGACTGTGACTGTATTTCTGTGCCTGTAGCTCCATGGTTGTGTGTGTCTTGGAGCATGGCCTGTGGCCGTCTGAGTGAGCTGCTACATGTCTAAGGGTGTGCCTGCATAGGCCTGCTCAC... |
Task1_train_6929 | The gene COL7A1 (collagen type VII alpha 1 chain) on Chromosome 3 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; not provided | GTCTAAGGGTGTGCCTGCATAGGCCTGCTCACCCCAACAGGCAACTGCACACATGTCCTTTGACTCTGGCTCTCTAGAGGTAGCTCCACATTTATGCATCTCTGGGTTGGTGATCGTCCACATGTCCTGGGTGTGTGCATATCCATGTGTGTCTTAGTACATGTACCCATGGGTCTGTGTGTCCTGGTCTGTTTGCACATCTTGGCCCATGTCTGCATATGGGCATGGGCTTATACATGTCTCCAAAGAGCATGGGCTTATACATGCCTTGAGAGCCATGTGTCTTGGCATCTGTCTGCAACTCTTGTGTGTAGCTCAAT... | GTCTAAGGGTGTGCCTGCATAGGCCTGCTCACCCCAACAGGCAACTGCACACATGTCCTTTGACTCTGGCTCTCTAGAGGTAGCTCCACATTTATGCATCTCTGGGTTGGTGATCGTCCACATGTCCTGGGTGTGTGCATATCCATGTGTGTCTTAGTACATGTACCCATGGGTCTGTGTGTCCTGGTCTGTTTGCACATCTTGGCCCATGTCTGCATATGGGCATGGGCTTATACATGTCTCCAAAGAGCATGGGCTTATACATGCCTTGAGAGCCATGTGTCTTGGCATCTGTCTGCAACTCTTGTGTGTAGCTCAAT... |
Task1_train_6930 | This alteration occurs within gene COL7A1 (collagen type VII alpha 1 chain) located on Chromosome 3. Is it associated with a disease or is it a benign variant? | Pathogenic; Epidermolysis bullosa dystrophica | CATAGGCCTGCTCACCCCAACAGGCAACTGCACACATGTCCTTTGACTCTGGCTCTCTAGAGGTAGCTCCACATTTATGCATCTCTGGGTTGGTGATCGTCCACATGTCCTGGGTGTGTGCATATCCATGTGTGTCTTAGTACATGTACCCATGGGTCTGTGTGTCCTGGTCTGTTTGCACATCTTGGCCCATGTCTGCATATGGGCATGGGCTTATACATGTCTCCAAAGAGCATGGGCTTATACATGCCTTGAGAGCCATGTGTCTTGGCATCTGTCTGCAACTCTTGTGTGTAGCTCAATGTGTATGACCATAAGCG... | CATAGGCCTGCTCACCCCAACAGGCAACTGCACACATGTCCTTTGACTCTGGCTCTCTAGAGGTAGCTCCACATTTATGCATCTCTGGGTTGGTGATCGTCCACATGTCCTGGGTGTGTGCATATCCATGTGTGTCTTAGTACATGTACCCATGGGTCTGTGTGTCCTGGTCTGTTTGCACATCTTGGCCCATGTCTGCATATGGGCATGGGCTTATACATGTCTCCAAAGAGCATGGGCTTATACATGCCTTGAGAGCCATGTGTCTTGGCATCTGTCTGCAACTCTTGTGTGTAGCTCAATGTGTATGACCATAAGCG... |
Task1_train_6931 | This sequence variant lies in COL7A1 (collagen type VII alpha 1 chain) on Chromosome 3. Is it clinically significant, and what condition might it cause if any? | Pathogenic; not provided | GCTCACCCCAACAGGCAACTGCACACATGTCCTTTGACTCTGGCTCTCTAGAGGTAGCTCCACATTTATGCATCTCTGGGTTGGTGATCGTCCACATGTCCTGGGTGTGTGCATATCCATGTGTGTCTTAGTACATGTACCCATGGGTCTGTGTGTCCTGGTCTGTTTGCACATCTTGGCCCATGTCTGCATATGGGCATGGGCTTATACATGTCTCCAAAGAGCATGGGCTTATACATGCCTTGAGAGCCATGTGTCTTGGCATCTGTCTGCAACTCTTGTGTGTAGCTCAATGTGTATGACCATAAGCGTGTGGGTGA... | GCTCACCCCAACAGGCAACTGCACACATGTCCTTTGACTCTGGCTCTCTAGAGGTAGCTCCACATTTATGCATCTCTGGGTTGGTGATCGTCCACATGTCCTGGGTGTGTGCATATCCATGTGTGTCTTAGTACATGTACCCATGGGTCTGTGTGTCCTGGTCTGTTTGCACATCTTGGCCCATGTCTGCATATGGGCATGGGCTTATACATGTCTCCAAAGAGCATGGGCTTATACATGCCTTGAGAGCCATGTGTCTTGGCATCTGTCTGCAACTCTTGTGTGTAGCTCAATGTGTATGACCATAAGCGTGTGGGTGA... |
Task1_train_6932 | The gene COL7A1 (collagen type VII alpha 1 chain) on Chromosome 3 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; not provided | AACAGGCAACTGCACACATGTCCTTTGACTCTGGCTCTCTAGAGGTAGCTCCACATTTATGCATCTCTGGGTTGGTGATCGTCCACATGTCCTGGGTGTGTGCATATCCATGTGTGTCTTAGTACATGTACCCATGGGTCTGTGTGTCCTGGTCTGTTTGCACATCTTGGCCCATGTCTGCATATGGGCATGGGCTTATACATGTCTCCAAAGAGCATGGGCTTATACATGCCTTGAGAGCCATGTGTCTTGGCATCTGTCTGCAACTCTTGTGTGTAGCTCAATGTGTATGACCATAAGCGTGTGGGTGACCATATAAA... | AACAGGCAACTGCACACATGTCCTTTGACTCTGGCTCTCTAGAGGTAGCTCCACATTTATGCATCTCTGGGTTGGTGATCGTCCACATGTCCTGGGTGTGTGCATATCCATGTGTGTCTTAGTACATGTACCCATGGGTCTGTGTGTCCTGGTCTGTTTGCACATCTTGGCCCATGTCTGCATATGGGCATGGGCTTATACATGTCTCCAAAGAGCATGGGCTTATACATGCCTTGAGAGCCATGTGTCTTGGCATCTGTCTGCAACTCTTGTGTGTAGCTCAATGTGTATGACCATAAGCGTGTGGGTGACCATATAAA... |
Task1_train_6933 | Given this context: Chromosome 3, gene COL7A1 (collagen type VII alpha 1 chain) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; not provided | TGCATATCCATGTGTGTCTTAGTACATGTACCCATGGGTCTGTGTGTCCTGGTCTGTTTGCACATCTTGGCCCATGTCTGCATATGGGCATGGGCTTATACATGTCTCCAAAGAGCATGGGCTTATACATGCCTTGAGAGCCATGTGTCTTGGCATCTGTCTGCAACTCTTGTGTGTAGCTCAATGTGTATGACCATAAGCGTGTGGGTGACCATATAAAGTCATGGGCCAGCATGTCCTAGCACATGTCACAGGTCAGAGCCATCCATGTGTGTCTCACCATGTCTCAACACAGGTCCACATGCGGTCTTGGGTCCATG... | TGCATATCCATGTGTGTCTTAGTACATGTACCCATGGGTCTGTGTGTCCTGGTCTGTTTGCACATCTTGGCCCATGTCTGCATATGGGCATGGGCTTATACATGTCTCCAAAGAGCATGGGCTTATACATGCCTTGAGAGCCATGTGTCTTGGCATCTGTCTGCAACTCTTGTGTGTAGCTCAATGTGTATGACCATAAGCGTGTGGGTGACCATATAAAGTCATGGGCCAGCATGTCCTAGCACATGTCACAGGTCAGAGCCATCCATGTGTGTCTCACCATGTCTCAACACAGGTCCACATGCGGTCTTGGGTCCATG... |
Task1_train_6934 | With a mutation on Chromosome 3 in gene COL7A1 (collagen type VII alpha 1 chain), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; not provided | GCATATCCATGTGTGTCTTAGTACATGTACCCATGGGTCTGTGTGTCCTGGTCTGTTTGCACATCTTGGCCCATGTCTGCATATGGGCATGGGCTTATACATGTCTCCAAAGAGCATGGGCTTATACATGCCTTGAGAGCCATGTGTCTTGGCATCTGTCTGCAACTCTTGTGTGTAGCTCAATGTGTATGACCATAAGCGTGTGGGTGACCATATAAAGTCATGGGCCAGCATGTCCTAGCACATGTCACAGGTCAGAGCCATCCATGTGTGTCTCACCATGTCTCAACACAGGTCCACATGCGGTCTTGGGTCCATGT... | GCATATCCATGTGTGTCTTAGTACATGTACCCATGGGTCTGTGTGTCCTGGTCTGTTTGCACATCTTGGCCCATGTCTGCATATGGGCATGGGCTTATACATGTCTCCAAAGAGCATGGGCTTATACATGCCTTGAGAGCCATGTGTCTTGGCATCTGTCTGCAACTCTTGTGTGTAGCTCAATGTGTATGACCATAAGCGTGTGGGTGACCATATAAAGTCATGGGCCAGCATGTCCTAGCACATGTCACAGGTCAGAGCCATCCATGTGTGTCTCACCATGTCTCAACACAGGTCCACATGCGGTCTTGGGTCCATGT... |
Task1_train_6935 | This gene mutation involves COL7A1 (collagen type VII alpha 1 chain) on Chromosome 3. Is it associated with any clinical condition, or is it benign? | Pathogenic; not provided | TAGTACATGTACCCATGGGTCTGTGTGTCCTGGTCTGTTTGCACATCTTGGCCCATGTCTGCATATGGGCATGGGCTTATACATGTCTCCAAAGAGCATGGGCTTATACATGCCTTGAGAGCCATGTGTCTTGGCATCTGTCTGCAACTCTTGTGTGTAGCTCAATGTGTATGACCATAAGCGTGTGGGTGACCATATAAAGTCATGGGCCAGCATGTCCTAGCACATGTCACAGGTCAGAGCCATCCATGTGTGTCTCACCATGTCTCAACACAGGTCCACATGCGGTCTTGGGTCCATGTCTTAGCACATGAGTCTGG... | TAGTACATGTACCCATGGGTCTGTGTGTCCTGGTCTGTTTGCACATCTTGGCCCATGTCTGCATATGGGCATGGGCTTATACATGTCTCCAAAGAGCATGGGCTTATACATGCCTTGAGAGCCATGTGTCTTGGCATCTGTCTGCAACTCTTGTGTGTAGCTCAATGTGTATGACCATAAGCGTGTGGGTGACCATATAAAGTCATGGGCCAGCATGTCCTAGCACATGTCACAGGTCAGAGCCATCCATGTGTGTCTCACCATGTCTCAACACAGGTCCACATGCGGTCTTGGGTCCATGTCTTAGCACATGAGTCTGG... |
Task1_train_6936 | The gene COL7A1 (collagen type VII alpha 1 chain) is located on Chromosome 3, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; not provided | GTACCCATGGGTCTGTGTGTCCTGGTCTGTTTGCACATCTTGGCCCATGTCTGCATATGGGCATGGGCTTATACATGTCTCCAAAGAGCATGGGCTTATACATGCCTTGAGAGCCATGTGTCTTGGCATCTGTCTGCAACTCTTGTGTGTAGCTCAATGTGTATGACCATAAGCGTGTGGGTGACCATATAAAGTCATGGGCCAGCATGTCCTAGCACATGTCACAGGTCAGAGCCATCCATGTGTGTCTCACCATGTCTCAACACAGGTCCACATGCGGTCTTGGGTCCATGTCTTAGCACATGAGTCTGGGTGGAAGT... | GTACCCATGGGTCTGTGTGTCCTGGTCTGTTTGCACATCTTGGCCCATGTCTGCATATGGGCATGGGCTTATACATGTCTCCAAAGAGCATGGGCTTATACATGCCTTGAGAGCCATGTGTCTTGGCATCTGTCTGCAACTCTTGTGTGTAGCTCAATGTGTATGACCATAAGCGTGTGGGTGACCATATAAAGTCATGGGCCAGCATGTCCTAGCACATGTCACAGGTCAGAGCCATCCATGTGTGTCTCACCATGTCTCAACACAGGTCCACATGCGGTCTTGGGTCCATGTCTTAGCACATGAGTCTGGGTGGAAGT... |
Task1_train_6937 | This alteration in COL7A1 (collagen type VII alpha 1 chain) on Chromosome 3 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; not provided | AGAGCATGGGCTTATACATGCCTTGAGAGCCATGTGTCTTGGCATCTGTCTGCAACTCTTGTGTGTAGCTCAATGTGTATGACCATAAGCGTGTGGGTGACCATATAAAGTCATGGGCCAGCATGTCCTAGCACATGTCACAGGTCAGAGCCATCCATGTGTGTCTCACCATGTCTCAACACAGGTCCACATGCGGTCTTGGGTCCATGTCTTAGCACATGAGTCTGGGTGGAAGTGTCTGGGTATCAACATGTCTCTAAGTGCCCCAAATGTGGCTACACACCAGTGTGTTTGTGCCTGTCGACCTGTCTGTGGCTCTT... | AGAGCATGGGCTTATACATGCCTTGAGAGCCATGTGTCTTGGCATCTGTCTGCAACTCTTGTGTGTAGCTCAATGTGTATGACCATAAGCGTGTGGGTGACCATATAAAGTCATGGGCCAGCATGTCCTAGCACATGTCACAGGTCAGAGCCATCCATGTGTGTCTCACCATGTCTCAACACAGGTCCACATGCGGTCTTGGGTCCATGTCTTAGCACATGAGTCTGGGTGGAAGTGTCTGGGTATCAACATGTCTCTAAGTGCCCCAAATGTGGCTACACACCAGTGTGTTTGTGCCTGTCGACCTGTCTGTGGCTCTT... |
Task1_train_6938 | The following genetic variant occurs in COL7A1 (collagen type VII alpha 1 chain) on Chromosome 3. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Nonsyndromic congenital nail disorder 8 | TACTAAAAATACAAAATTAGCCAGGCATGGTGGCGCATGCCTGTAATCCCAGTTACTCGGGAGGTTGAGGCAGGAGAATCACTTGAACCCGAGAGTCGAAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAACCTGGGCAACAAGAGCGAAACTCCATCTCAAAAAAAAAAAAACTATGTTTCTGGATGCATCTGTATGTCTGGGCCAGGATGCATGTGTCTACACGTGTGCCTCATGTGTTGCTACAGATCTTGGCTGTGTAGGTGTGCTGGCGTTTCTTGGCAGGTTTCGCCGCAGCTGCCCTGGACACACTC... | TACTAAAAATACAAAATTAGCCAGGCATGGTGGCGCATGCCTGTAATCCCAGTTACTCGGGAGGTTGAGGCAGGAGAATCACTTGAACCCGAGAGTCGAAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAACCTGGGCAACAAGAGCGAAACTCCATCTCAAAAAAAAAAAAACTATGTTTCTGGATGCATCTGTATGTCTGGGCCAGGATGCATGTGTCTACACGTGTGCCTCATGTGTTGCTACAGATCTTGGCTGTGTAGGTGTGCTGGCGTTTCTTGGCAGGTTTCGCCGCAGCTGCCCTGGACACACTC... |
Task1_train_6939 | Here’s a variant in COL7A1 (collagen type VII alpha 1 chain) located on Chromosome 3. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Transient bullous dermolysis of the newborn | TACTAAAAATACAAAATTAGCCAGGCATGGTGGCGCATGCCTGTAATCCCAGTTACTCGGGAGGTTGAGGCAGGAGAATCACTTGAACCCGAGAGTCGAAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAACCTGGGCAACAAGAGCGAAACTCCATCTCAAAAAAAAAAAAACTATGTTTCTGGATGCATCTGTATGTCTGGGCCAGGATGCATGTGTCTACACGTGTGCCTCATGTGTTGCTACAGATCTTGGCTGTGTAGGTGTGCTGGCGTTTCTTGGCAGGTTTCGCCGCAGCTGCCCTGGACACACTC... | TACTAAAAATACAAAATTAGCCAGGCATGGTGGCGCATGCCTGTAATCCCAGTTACTCGGGAGGTTGAGGCAGGAGAATCACTTGAACCCGAGAGTCGAAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAACCTGGGCAACAAGAGCGAAACTCCATCTCAAAAAAAAAAAAACTATGTTTCTGGATGCATCTGTATGTCTGGGCCAGGATGCATGTGTCTACACGTGTGCCTCATGTGTTGCTACAGATCTTGGCTGTGTAGGTGTGCTGGCGTTTCTTGGCAGGTTTCGCCGCAGCTGCCCTGGACACACTC... |
Task1_train_6940 | Located on Chromosome 3, this mutation impacts COL7A1 (collagen type VII alpha 1 chain). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Recessive dystrophic epidermolysis bullosa | TACTAAAAATACAAAATTAGCCAGGCATGGTGGCGCATGCCTGTAATCCCAGTTACTCGGGAGGTTGAGGCAGGAGAATCACTTGAACCCGAGAGTCGAAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAACCTGGGCAACAAGAGCGAAACTCCATCTCAAAAAAAAAAAAACTATGTTTCTGGATGCATCTGTATGTCTGGGCCAGGATGCATGTGTCTACACGTGTGCCTCATGTGTTGCTACAGATCTTGGCTGTGTAGGTGTGCTGGCGTTTCTTGGCAGGTTTCGCCGCAGCTGCCCTGGACACACTC... | TACTAAAAATACAAAATTAGCCAGGCATGGTGGCGCATGCCTGTAATCCCAGTTACTCGGGAGGTTGAGGCAGGAGAATCACTTGAACCCGAGAGTCGAAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAACCTGGGCAACAAGAGCGAAACTCCATCTCAAAAAAAAAAAAACTATGTTTCTGGATGCATCTGTATGTCTGGGCCAGGATGCATGTGTCTACACGTGTGCCTCATGTGTTGCTACAGATCTTGGCTGTGTAGGTGTGCTGGCGTTTCTTGGCAGGTTTCGCCGCAGCTGCCCTGGACACACTC... |
Task1_train_6941 | A genetic alteration is present in COL7A1 (collagen type VII alpha 1 chain) on Chromosome 3. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Epidermolysis bullosa pruriginosa | TACTAAAAATACAAAATTAGCCAGGCATGGTGGCGCATGCCTGTAATCCCAGTTACTCGGGAGGTTGAGGCAGGAGAATCACTTGAACCCGAGAGTCGAAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAACCTGGGCAACAAGAGCGAAACTCCATCTCAAAAAAAAAAAAACTATGTTTCTGGATGCATCTGTATGTCTGGGCCAGGATGCATGTGTCTACACGTGTGCCTCATGTGTTGCTACAGATCTTGGCTGTGTAGGTGTGCTGGCGTTTCTTGGCAGGTTTCGCCGCAGCTGCCCTGGACACACTC... | TACTAAAAATACAAAATTAGCCAGGCATGGTGGCGCATGCCTGTAATCCCAGTTACTCGGGAGGTTGAGGCAGGAGAATCACTTGAACCCGAGAGTCGAAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAACCTGGGCAACAAGAGCGAAACTCCATCTCAAAAAAAAAAAAACTATGTTTCTGGATGCATCTGTATGTCTGGGCCAGGATGCATGTGTCTACACGTGTGCCTCATGTGTTGCTACAGATCTTGGCTGTGTAGGTGTGCTGGCGTTTCTTGGCAGGTTTCGCCGCAGCTGCCCTGGACACACTC... |
Task1_train_6942 | The gene COL7A1 (collagen type VII alpha 1 chain) on Chromosome 3 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Pretibial dystrophic epidermolysis bullosa | TACTAAAAATACAAAATTAGCCAGGCATGGTGGCGCATGCCTGTAATCCCAGTTACTCGGGAGGTTGAGGCAGGAGAATCACTTGAACCCGAGAGTCGAAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAACCTGGGCAACAAGAGCGAAACTCCATCTCAAAAAAAAAAAAACTATGTTTCTGGATGCATCTGTATGTCTGGGCCAGGATGCATGTGTCTACACGTGTGCCTCATGTGTTGCTACAGATCTTGGCTGTGTAGGTGTGCTGGCGTTTCTTGGCAGGTTTCGCCGCAGCTGCCCTGGACACACTC... | TACTAAAAATACAAAATTAGCCAGGCATGGTGGCGCATGCCTGTAATCCCAGTTACTCGGGAGGTTGAGGCAGGAGAATCACTTGAACCCGAGAGTCGAAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAACCTGGGCAACAAGAGCGAAACTCCATCTCAAAAAAAAAAAAACTATGTTTCTGGATGCATCTGTATGTCTGGGCCAGGATGCATGTGTCTACACGTGTGCCTCATGTGTTGCTACAGATCTTGGCTGTGTAGGTGTGCTGGCGTTTCTTGGCAGGTTTCGCCGCAGCTGCCCTGGACACACTC... |
Task1_train_6943 | Consider a variant on Chromosome 3 in gene COL7A1 (collagen type VII alpha 1 chain). Determine its clinical classification and disease relevance. | Pathogenic; Dominant dystrophic epidermolysis bullosa with absence of skin | TACTAAAAATACAAAATTAGCCAGGCATGGTGGCGCATGCCTGTAATCCCAGTTACTCGGGAGGTTGAGGCAGGAGAATCACTTGAACCCGAGAGTCGAAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAACCTGGGCAACAAGAGCGAAACTCCATCTCAAAAAAAAAAAAACTATGTTTCTGGATGCATCTGTATGTCTGGGCCAGGATGCATGTGTCTACACGTGTGCCTCATGTGTTGCTACAGATCTTGGCTGTGTAGGTGTGCTGGCGTTTCTTGGCAGGTTTCGCCGCAGCTGCCCTGGACACACTC... | TACTAAAAATACAAAATTAGCCAGGCATGGTGGCGCATGCCTGTAATCCCAGTTACTCGGGAGGTTGAGGCAGGAGAATCACTTGAACCCGAGAGTCGAAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAACCTGGGCAACAAGAGCGAAACTCCATCTCAAAAAAAAAAAAACTATGTTTCTGGATGCATCTGTATGTCTGGGCCAGGATGCATGTGTCTACACGTGTGCCTCATGTGTTGCTACAGATCTTGGCTGTGTAGGTGTGCTGGCGTTTCTTGGCAGGTTTCGCCGCAGCTGCCCTGGACACACTC... |
Task1_train_6944 | A variant found in Chromosome 3 affects COL7A1 (collagen type VII alpha 1 chain). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Generalized dominant dystrophic epidermolysis bullosa | TACTAAAAATACAAAATTAGCCAGGCATGGTGGCGCATGCCTGTAATCCCAGTTACTCGGGAGGTTGAGGCAGGAGAATCACTTGAACCCGAGAGTCGAAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAACCTGGGCAACAAGAGCGAAACTCCATCTCAAAAAAAAAAAAACTATGTTTCTGGATGCATCTGTATGTCTGGGCCAGGATGCATGTGTCTACACGTGTGCCTCATGTGTTGCTACAGATCTTGGCTGTGTAGGTGTGCTGGCGTTTCTTGGCAGGTTTCGCCGCAGCTGCCCTGGACACACTC... | TACTAAAAATACAAAATTAGCCAGGCATGGTGGCGCATGCCTGTAATCCCAGTTACTCGGGAGGTTGAGGCAGGAGAATCACTTGAACCCGAGAGTCGAAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAACCTGGGCAACAAGAGCGAAACTCCATCTCAAAAAAAAAAAAACTATGTTTCTGGATGCATCTGTATGTCTGGGCCAGGATGCATGTGTCTACACGTGTGCCTCATGTGTTGCTACAGATCTTGGCTGTGTAGGTGTGCTGGCGTTTCTTGGCAGGTTTCGCCGCAGCTGCCCTGGACACACTC... |
Task1_train_6945 | The gene COL7A1 (collagen type VII alpha 1 chain) on Chromosome 3 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Recessive dystrophic epidermolysis bullosa | TACTAAAAATACAAAATTAGCCAGGCATGGTGGCGCATGCCTGTAATCCCAGTTACTCGGGAGGTTGAGGCAGGAGAATCACTTGAACCCGAGAGTCGAAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAACCTGGGCAACAAGAGCGAAACTCCATCTCAAAAAAAAAAAAACTATGTTTCTGGATGCATCTGTATGTCTGGGCCAGGATGCATGTGTCTACACGTGTGCCTCATGTGTTGCTACAGATCTTGGCTGTGTAGGTGTGCTGGCGTTTCTTGGCAGGTTTCGCCGCAGCTGCCCTGGACACACTC... | TACTAAAAATACAAAATTAGCCAGGCATGGTGGCGCATGCCTGTAATCCCAGTTACTCGGGAGGTTGAGGCAGGAGAATCACTTGAACCCGAGAGTCGAAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAACCTGGGCAACAAGAGCGAAACTCCATCTCAAAAAAAAAAAAACTATGTTTCTGGATGCATCTGTATGTCTGGGCCAGGATGCATGTGTCTACACGTGTGCCTCATGTGTTGCTACAGATCTTGGCTGTGTAGGTGTGCTGGCGTTTCTTGGCAGGTTTCGCCGCAGCTGCCCTGGACACACTC... |
Task1_train_6946 | Gene COL7A1 (collagen type VII alpha 1 chain), found on Chromosome 3, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; not provided | ACAAAATTAGCCAGGCATGGTGGCGCATGCCTGTAATCCCAGTTACTCGGGAGGTTGAGGCAGGAGAATCACTTGAACCCGAGAGTCGAAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAACCTGGGCAACAAGAGCGAAACTCCATCTCAAAAAAAAAAAAACTATGTTTCTGGATGCATCTGTATGTCTGGGCCAGGATGCATGTGTCTACACGTGTGCCTCATGTGTTGCTACAGATCTTGGCTGTGTAGGTGTGCTGGCGTTTCTTGGCAGGTTTCGCCGCAGCTGCCCTGGACACACTCACGTTTTTTC... | ACAAAATTAGCCAGGCATGGTGGCGCATGCCTGTAATCCCAGTTACTCGGGAGGTTGAGGCAGGAGAATCACTTGAACCCGAGAGTCGAAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAACCTGGGCAACAAGAGCGAAACTCCATCTCAAAAAAAAAAAAACTATGTTTCTGGATGCATCTGTATGTCTGGGCCAGGATGCATGTGTCTACACGTGTGCCTCATGTGTTGCTACAGATCTTGGCTGTGTAGGTGTGCTGGCGTTTCTTGGCAGGTTTCGCCGCAGCTGCCCTGGACACACTCACGTTTTTTC... |
Task1_train_6947 | The variant affects gene COL7A1 (collagen type VII alpha 1 chain), which is on Chromosome 3. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; not provided | CTGAGATATCCCTTGGGGCACACCCCATGGACTAAGAGGACCCCAAAAAGATCTCCCTCCAGGGTAGAGACCCCCAGGACTGAGAGGTCCCATTGAGATCCCTCAGGCACAGACCCCATGGATGGGGGCCCCTGCTGAGACTCCCAAGGGAAGAACCCCCAGGACTTGGAGGGCCTATGAAGACCCCCAAGGCAAAGAAGGTCAGAAAGGGGGATTCTACTAAAACCTGTGTGCCAGGGACTGAGACCCTCCCAAAGGCAAGGCTGAACCGACCCCCCACCAACTCTCTCGGATGCTGTGACTATGATGATCTGGTTGGA... | CTGAGATATCCCTTGGGGCACACCCCATGGACTAAGAGGACCCCAAAAAGATCTCCCTCCAGGGTAGAGACCCCCAGGACTGAGAGGTCCCATTGAGATCCCTCAGGCACAGACCCCATGGATGGGGGCCCCTGCTGAGACTCCCAAGGGAAGAACCCCCAGGACTTGGAGGGCCTATGAAGACCCCCAAGGCAAAGAAGGTCAGAAAGGGGGATTCTACTAAAACCTGTGTGCCAGGGACTGAGACCCTCCCAAAGGCAAGGCTGAACCGACCCCCCACCAACTCTCTCGGATGCTGTGACTATGATGATCTGGTTGGA... |
Task1_train_6948 | Mutation context: Chromosome 3, Gene COL7A1 (collagen type VII alpha 1 chain). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; not provided | TCCCTTGGGGCACACCCCATGGACTAAGAGGACCCCAAAAAGATCTCCCTCCAGGGTAGAGACCCCCAGGACTGAGAGGTCCCATTGAGATCCCTCAGGCACAGACCCCATGGATGGGGGCCCCTGCTGAGACTCCCAAGGGAAGAACCCCCAGGACTTGGAGGGCCTATGAAGACCCCCAAGGCAAAGAAGGTCAGAAAGGGGGATTCTACTAAAACCTGTGTGCCAGGGACTGAGACCCTCCCAAAGGCAAGGCTGAACCGACCCCCCACCAACTCTCTCGGATGCTGTGACTATGATGATCTGGTTGGAGCTTACGC... | TCCCTTGGGGCACACCCCATGGACTAAGAGGACCCCAAAAAGATCTCCCTCCAGGGTAGAGACCCCCAGGACTGAGAGGTCCCATTGAGATCCCTCAGGCACAGACCCCATGGATGGGGGCCCCTGCTGAGACTCCCAAGGGAAGAACCCCCAGGACTTGGAGGGCCTATGAAGACCCCCAAGGCAAAGAAGGTCAGAAAGGGGGATTCTACTAAAACCTGTGTGCCAGGGACTGAGACCCTCCCAAAGGCAAGGCTGAACCGACCCCCCACCAACTCTCTCGGATGCTGTGACTATGATGATCTGGTTGGAGCTTACGC... |
Task1_train_6949 | A variant affecting Chromosome 3, within the gene COL7A1 (collagen type VII alpha 1 chain), has been observed. Determine if it's benign or associated with disease. | Pathogenic; not provided | AAAAAGATCTCCCTCCAGGGTAGAGACCCCCAGGACTGAGAGGTCCCATTGAGATCCCTCAGGCACAGACCCCATGGATGGGGGCCCCTGCTGAGACTCCCAAGGGAAGAACCCCCAGGACTTGGAGGGCCTATGAAGACCCCCAAGGCAAAGAAGGTCAGAAAGGGGGATTCTACTAAAACCTGTGTGCCAGGGACTGAGACCCTCCCAAAGGCAAGGCTGAACCGACCCCCCACCAACTCTCTCGGATGCTGTGACTATGATGATCTGGTTGGAGCTTACGCAGCCCCGAGCCCCCTCTGTCCCAGCATCTCCCCTCA... | AAAAAGATCTCCCTCCAGGGTAGAGACCCCCAGGACTGAGAGGTCCCATTGAGATCCCTCAGGCACAGACCCCATGGATGGGGGCCCCTGCTGAGACTCCCAAGGGAAGAACCCCCAGGACTTGGAGGGCCTATGAAGACCCCCAAGGCAAAGAAGGTCAGAAAGGGGGATTCTACTAAAACCTGTGTGCCAGGGACTGAGACCCTCCCAAAGGCAAGGCTGAACCGACCCCCCACCAACTCTCTCGGATGCTGTGACTATGATGATCTGGTTGGAGCTTACGCAGCCCCGAGCCCCCTCTGTCCCAGCATCTCCCCTCA... |
Task1_train_6950 | This sequence change occurs on Chromosome 3, altering COL7A1 (collagen type VII alpha 1 chain). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; not provided | ACAGGTCTCGCCCCAGAGCTCGTCAAGGCCAAGACCAACCAATGAGGCTGGGGTCTAGGGTCCTCATGTGAAGGGGTAGGGGAAGGGGACAACCAGGCAGGACTACCAAGACTCACATTCGGCCCAGAGGGCCCAGCGGCTCCTGGTTTCCCATCCAGTCCGCTCCGGCCATCCAGCCCAGGGGGACCCCGGTCACCCTGTGGAAAATAGAGTGGTAAGAGGCCACCAAGGCTGAGGTGGATCTGATAACCCAGGCTCATGTCCTGAGAAACCCCCACACCCTCTCACCTTTTCTCCTGCTGGGCCTCGGACACCTGGGT... | ACAGGTCTCGCCCCAGAGCTCGTCAAGGCCAAGACCAACCAATGAGGCTGGGGTCTAGGGTCCTCATGTGAAGGGGTAGGGGAAGGGGACAACCAGGCAGGACTACCAAGACTCACATTCGGCCCAGAGGGCCCAGCGGCTCCTGGTTTCCCATCCAGTCCGCTCCGGCCATCCAGCCCAGGGGGACCCCGGTCACCCTGTGGAAAATAGAGTGGTAAGAGGCCACCAAGGCTGAGGTGGATCTGATAACCCAGGCTCATGTCCTGAGAAACCCCCACACCCTCTCACCTTTTCTCCTGCTGGGCCTCGGACACCTGGGT... |
Task1_train_6951 | An alteration has been detected in COL7A1 (collagen type VII alpha 1 chain) on Chromosome 3. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Nonsyndromic congenital nail disorder 8 | GGGTAAGATGGGGACTTGGCAGACGGGGCAAAGTGCATCACTCACCTGTGGGCCTGGGGGTCCCCGAAACCCTTCAATGCCCTGAGGATAGGGGAGGAAGAAATCAGAGCAGGCCCTCCCATGCCTGCACCCCCGAGGACCAATCACACTCACCCTTTCCCCAGGGGCTCCAGGGAGGCCAGGATCACCCTTGGGCCCTCGAGGACCCTCTTGTCCGCGGTCCCCAGGCTCTCCCTGTGGCAGAGATAAGCTTGCTGAGGAACAGCCTTGAAGCCAAGCCATGCCCAAGGTAGAACCTGCTGGGAGGGGCACTGGGGTCT... | GGGTAAGATGGGGACTTGGCAGACGGGGCAAAGTGCATCACTCACCTGTGGGCCTGGGGGTCCCCGAAACCCTTCAATGCCCTGAGGATAGGGGAGGAAGAAATCAGAGCAGGCCCTCCCATGCCTGCACCCCCGAGGACCAATCACACTCACCCTTTCCCCAGGGGCTCCAGGGAGGCCAGGATCACCCTTGGGCCCTCGAGGACCCTCTTGTCCGCGGTCCCCAGGCTCTCCCTGTGGCAGAGATAAGCTTGCTGAGGAACAGCCTTGAAGCCAAGCCATGCCCAAGGTAGAACCTGCTGGGAGGGGCACTGGGGTCT... |
Task1_train_6952 | A mutation on Chromosome 3 affecting COL7A1 (collagen type VII alpha 1 chain) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Recessive dystrophic epidermolysis bullosa | GGGTAAGATGGGGACTTGGCAGACGGGGCAAAGTGCATCACTCACCTGTGGGCCTGGGGGTCCCCGAAACCCTTCAATGCCCTGAGGATAGGGGAGGAAGAAATCAGAGCAGGCCCTCCCATGCCTGCACCCCCGAGGACCAATCACACTCACCCTTTCCCCAGGGGCTCCAGGGAGGCCAGGATCACCCTTGGGCCCTCGAGGACCCTCTTGTCCGCGGTCCCCAGGCTCTCCCTGTGGCAGAGATAAGCTTGCTGAGGAACAGCCTTGAAGCCAAGCCATGCCCAAGGTAGAACCTGCTGGGAGGGGCACTGGGGTCT... | GGGTAAGATGGGGACTTGGCAGACGGGGCAAAGTGCATCACTCACCTGTGGGCCTGGGGGTCCCCGAAACCCTTCAATGCCCTGAGGATAGGGGAGGAAGAAATCAGAGCAGGCCCTCCCATGCCTGCACCCCCGAGGACCAATCACACTCACCCTTTCCCCAGGGGCTCCAGGGAGGCCAGGATCACCCTTGGGCCCTCGAGGACCCTCTTGTCCGCGGTCCCCAGGCTCTCCCTGTGGCAGAGATAAGCTTGCTGAGGAACAGCCTTGAAGCCAAGCCATGCCCAAGGTAGAACCTGCTGGGAGGGGCACTGGGGTCT... |
Task1_train_6953 | The gene COL7A1 (collagen type VII alpha 1 chain) on Chromosome 3 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; not provided | GCTTGCTGAGGAACAGCCTTGAAGCCAAGCCATGCCCAAGGTAGAACCTGCTGGGAGGGGCACTGGGGTCTTTCTTACCCTCCACCCACAGACCCTAATACCTTCTCTCTGGCTCCAGGTCCTGTGTCTACCTGTGGGGGGAATGACCAGTGAGAAGAATGGCTCAACAAGGGGAAGAGGAGTTGGCGAGGGGATACAGGGTCTGTGAGGGGCTCCAGGGATCCGCGGAGGTTTCAGAGGGACAGTGGGGGAAGTGGGAGTTAGTGGAAGGAATGAGGGGACATGATGTGGAGCCAAAGGGGCAAGTGAGAACAATGACA... | GCTTGCTGAGGAACAGCCTTGAAGCCAAGCCATGCCCAAGGTAGAACCTGCTGGGAGGGGCACTGGGGTCTTTCTTACCCTCCACCCACAGACCCTAATACCTTCTCTCTGGCTCCAGGTCCTGTGTCTACCTGTGGGGGGAATGACCAGTGAGAAGAATGGCTCAACAAGGGGAAGAGGAGTTGGCGAGGGGATACAGGGTCTGTGAGGGGCTCCAGGGATCCGCGGAGGTTTCAGAGGGACAGTGGGGGAAGTGGGAGTTAGTGGAAGGAATGAGGGGACATGATGTGGAGCCAAAGGGGCAAGTGAGAACAATGACA... |
Task1_train_6954 | This variant lies on Chromosome 3 and affects the gene COL7A1 (collagen type VII alpha 1 chain). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; not provided | AAGCCATGCCCAAGGTAGAACCTGCTGGGAGGGGCACTGGGGTCTTTCTTACCCTCCACCCACAGACCCTAATACCTTCTCTCTGGCTCCAGGTCCTGTGTCTACCTGTGGGGGGAATGACCAGTGAGAAGAATGGCTCAACAAGGGGAAGAGGAGTTGGCGAGGGGATACAGGGTCTGTGAGGGGCTCCAGGGATCCGCGGAGGTTTCAGAGGGACAGTGGGGGAAGTGGGAGTTAGTGGAAGGAATGAGGGGACATGATGTGGAGCCAAAGGGGCAAGTGAGAACAATGACAGAGGACCAGACCCAGCGCAGCCCTTA... | AAGCCATGCCCAAGGTAGAACCTGCTGGGAGGGGCACTGGGGTCTTTCTTACCCTCCACCCACAGACCCTAATACCTTCTCTCTGGCTCCAGGTCCTGTGTCTACCTGTGGGGGGAATGACCAGTGAGAAGAATGGCTCAACAAGGGGAAGAGGAGTTGGCGAGGGGATACAGGGTCTGTGAGGGGCTCCAGGGATCCGCGGAGGTTTCAGAGGGACAGTGGGGGAAGTGGGAGTTAGTGGAAGGAATGAGGGGACATGATGTGGAGCCAAAGGGGCAAGTGAGAACAATGACAGAGGACCAGACCCAGCGCAGCCCTTA... |
Task1_train_6955 | Assess the clinical impact of this variant on gene COL7A1 (collagen type VII alpha 1 chain), found on Chromosome 3. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Transient bullous dermolysis of the newborn | AAGGAAGTGAAGATTGGGAGGGTTTAGCATTACAGGGTTGGGGGGTAGGATCAGGTATTGGGAATTGGCTGGTTGGAGGGTTAAGGTTGGGGTGAGGAGTCATAGGCTGGGACTCACATTTCGTCCATCCTCTCCAGGATCTCCCTGGTCTCCCTTTTCACCCACAGGCCCCCGAACTCCAGGTGCCCCCTAAGAAGAGCAGCTGGCCTGAGACAGACCCTCCCAATATTTTGCAGGTGCCCCTATGACCCGCTACACTGCCCCAGGTTCCCCATTACTCCAAAATCCACATCAGAGGTTCCCATCACCCCATGCCTCCC... | AAGGAAGTGAAGATTGGGAGGGTTTAGCATTACAGGGTTGGGGGGTAGGATCAGGTATTGGGAATTGGCTGGTTGGAGGGTTAAGGTTGGGGTGAGGAGTCATAGGCTGGGACTCACATTTCGTCCATCCTCTCCAGGATCTCCCTGGTCTCCCTTTTCACCCACAGGCCCCCGAACTCCAGGTGCCCCCTAAGAAGAGCAGCTGGCCTGAGACAGACCCTCCCAATATTTTGCAGGTGCCCCTATGACCCGCTACACTGCCCCAGGTTCCCCATTACTCCAAAATCCACATCAGAGGTTCCCATCACCCCATGCCTCCC... |
Task1_train_6956 | A genomic change on Chromosome 3 affects COL7A1 (collagen type VII alpha 1 chain). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Transient bullous dermolysis of the newborn | GGCTGGGACTCACATTTCGTCCATCCTCTCCAGGATCTCCCTGGTCTCCCTTTTCACCCACAGGCCCCCGAACTCCAGGTGCCCCCTAAGAAGAGCAGCTGGCCTGAGACAGACCCTCCCAATATTTTGCAGGTGCCCCTATGACCCGCTACACTGCCCCAGGTTCCCCATTACTCCAAAATCCACATCAGAGGTTCCCATCACCCCATGCCTCCCTGCAGGGACTCCCATCACCCCTTACCCCCCTCAGCCTTTCCTATCACCTTCATGCCCACCTCCCATCACCCCTGTTACTTCTCTCTGCCAAGACTCACCCGAAG... | GGCTGGGACTCACATTTCGTCCATCCTCTCCAGGATCTCCCTGGTCTCCCTTTTCACCCACAGGCCCCCGAACTCCAGGTGCCCCCTAAGAAGAGCAGCTGGCCTGAGACAGACCCTCCCAATATTTTGCAGGTGCCCCTATGACCCGCTACACTGCCCCAGGTTCCCCATTACTCCAAAATCCACATCAGAGGTTCCCATCACCCCATGCCTCCCTGCAGGGACTCCCATCACCCCTTACCCCCCTCAGCCTTTCCTATCACCTTCATGCCCACCTCCCATCACCCCTGTTACTTCTCTCTGCCAAGACTCACCCGAAG... |
Task1_train_6957 | The gene COL7A1 (collagen type VII alpha 1 chain) on Chromosome 3 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Pretibial dystrophic epidermolysis bullosa | GAGTCTCACCGGAGGACCCTCGTCACCTTTCTCTCCAACTTCACCCTGTGAAACATGAGAGTCAGCCCTGGTTCCAAGAACCCCCATGATGCTGGCAACAGCCCTACTCCCTTACCCGCCATGACTCCCCCGACTCCAGCCTCTTACATCTCGTCCTCGGGGGCCAACAGGTCCTGGGGGGCCAGGCCGCCCAGGGTCTCCCTTCTCTCCAGGAGGCCCTGAGTCACCCTGTGGAGGAGGCAAGAGGGAGGTGATGCAGGACGCTCGAAGCAAGCAGTTCTCAAGGGGAGGGGACCCCAGAAGCCTTGAGGTTGCCCAGG... | GAGTCTCACCGGAGGACCCTCGTCACCTTTCTCTCCAACTTCACCCTGTGAAACATGAGAGTCAGCCCTGGTTCCAAGAACCCCCATGATGCTGGCAACAGCCCTACTCCCTTACCCGCCATGACTCCCCCGACTCCAGCCTCTTACATCTCGTCCTCGGGGGCCAACAGGTCCTGGGGGGCCAGGCCGCCCAGGGTCTCCCTTCTCTCCAGGAGGCCCTGAGTCACCCTGTGGAGGAGGCAAGAGGGAGGTGATGCAGGACGCTCGAAGCAAGCAGTTCTCAAGGGGAGGGGACCCCAGAAGCCTTGAGGTTGCCCAGG... |
Task1_train_6958 | Given this variant in gene COL7A1 (collagen type VII alpha 1 chain) on Chromosome 3, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Recessive dystrophic epidermolysis bullosa | GAGTCTCACCGGAGGACCCTCGTCACCTTTCTCTCCAACTTCACCCTGTGAAACATGAGAGTCAGCCCTGGTTCCAAGAACCCCCATGATGCTGGCAACAGCCCTACTCCCTTACCCGCCATGACTCCCCCGACTCCAGCCTCTTACATCTCGTCCTCGGGGGCCAACAGGTCCTGGGGGGCCAGGCCGCCCAGGGTCTCCCTTCTCTCCAGGAGGCCCTGAGTCACCCTGTGGAGGAGGCAAGAGGGAGGTGATGCAGGACGCTCGAAGCAAGCAGTTCTCAAGGGGAGGGGACCCCAGAAGCCTTGAGGTTGCCCAGG... | GAGTCTCACCGGAGGACCCTCGTCACCTTTCTCTCCAACTTCACCCTGTGAAACATGAGAGTCAGCCCTGGTTCCAAGAACCCCCATGATGCTGGCAACAGCCCTACTCCCTTACCCGCCATGACTCCCCCGACTCCAGCCTCTTACATCTCGTCCTCGGGGGCCAACAGGTCCTGGGGGGCCAGGCCGCCCAGGGTCTCCCTTCTCTCCAGGAGGCCCTGAGTCACCCTGTGGAGGAGGCAAGAGGGAGGTGATGCAGGACGCTCGAAGCAAGCAGTTCTCAAGGGGAGGGGACCCCAGAAGCCTTGAGGTTGCCCAGG... |
Task1_train_6959 | Consider this mutation in COL7A1 (collagen type VII alpha 1 chain) on Chromosome 3. Is this a benign change or a disease-causing variant? | Pathogenic; Epidermolysis bullosa dystrophica | GATTCACCCGGTCTCCAGGGTCTCCCTTGGGGCCAGGGTCTCCAGGAAGAACCAAGCCGGGTGGGCCCTGTGGATGGAAGGATAAGAAGTCAGGAAGACAACCTTCACCAACTGCCCCCTAAACACTTCGCTTCACTTACCCGTTCCCCTTGGACTCCGGTAGCTCCTCTGGGCCCAGCGGGCCCCACATCTCCCTGGAGGTGACAAAGACCATCAGTGCTAGTCCCAGGCTCCAGTTAACCCCCTGACCCAGCAAGTCCTGTGACCCCCCAAGTCCCATAGATAGGCCCTATGACCTAGACCTCAACCCTGTAGAAACC... | GATTCACCCGGTCTCCAGGGTCTCCCTTGGGGCCAGGGTCTCCAGGAAGAACCAAGCCGGGTGGGCCCTGTGGATGGAAGGATAAGAAGTCAGGAAGACAACCTTCACCAACTGCCCCCTAAACACTTCGCTTCACTTACCCGTTCCCCTTGGACTCCGGTAGCTCCTCTGGGCCCAGCGGGCCCCACATCTCCCTGGAGGTGACAAAGACCATCAGTGCTAGTCCCAGGCTCCAGTTAACCCCCTGACCCAGCAAGTCCTGTGACCCCCCAAGTCCCATAGATAGGCCCTATGACCTAGACCTCAACCCTGTAGAAACC... |
Task1_train_6960 | The gene COL7A1 (collagen type VII alpha 1 chain), on Chromosome 3, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Recessive dystrophic epidermolysis bullosa | TGGAGGTCACATGGAATTGGAAGTCATACAGCTCAGTCCCCGCCCAGAAGTCACAGAGTCACCGCTGACAGCAGGGAAGGGGTTATACAAAATGGACTGACACAAAGAGCTCATGACCTGCATGGCGGTCTTGGGGTCACAGGATCATAGCCAAGAGTCTGGGGGCAGGTTCTAGCAGAAGGAGAGCCGCAGAGCTCCCAGCCTGCTCACGGGCCCAGCACTGTGGAATCACAGCCCAGATAGTGTTCTATAGGAGGGTCACTGCTCAAGGGCTGTGCTGTGCTCAGAGCGCCATCCTCCCGTCACTCACCACCACTGCA... | TGGAGGTCACATGGAATTGGAAGTCATACAGCTCAGTCCCCGCCCAGAAGTCACAGAGTCACCGCTGACAGCAGGGAAGGGGTTATACAAAATGGACTGACACAAAGAGCTCATGACCTGCATGGCGGTCTTGGGGTCACAGGATCATAGCCAAGAGTCTGGGGGCAGGTTCTAGCAGAAGGAGAGCCGCAGAGCTCCCAGCCTGCTCACGGGCCCAGCACTGTGGAATCACAGCCCAGATAGTGTTCTATAGGAGGGTCACTGCTCAAGGGCTGTGCTGTGCTCAGAGCGCCATCCTCCCGTCACTCACCACCACTGCA... |
Task1_train_6961 | With a mutation on Chromosome 3 in gene COL7A1 (collagen type VII alpha 1 chain), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Epidermolysis bullosa dystrophica | AGCGCCATCCTCCCGTCACTCACCACCACTGCAGGGTCCCCAGGGCGACCAGGCTCCCCCTGTGGAGAGAGGATAGGAGCAGGGACAGGTCAGGGAGTCACCTAGGAGCCCAAAATCCCAGTGTCCCATCTGCCACATCCCTAGTACCAGACAGTGCCACCCCCAGCCGAGGACCCACCTTCTCTCCTTGGCGGCCAGTGGGTCCTGGTGGCCCCTGAATGTAGAGAAAGTGTGAGCCCAGGAGGGGAAGGGAAAGGGGAGGGACACACAAAAGTCCCACTCCTGGTCCCACCACAGTCACAGACTCACTTCAGGACCCT... | AGCGCCATCCTCCCGTCACTCACCACCACTGCAGGGTCCCCAGGGCGACCAGGCTCCCCCTGTGGAGAGAGGATAGGAGCAGGGACAGGTCAGGGAGTCACCTAGGAGCCCAAAATCCCAGTGTCCCATCTGCCACATCCCTAGTACCAGACAGTGCCACCCCCAGCCGAGGACCCACCTTCTCTCCTTGGCGGCCAGTGGGTCCTGGTGGCCCCTGAATGTAGAGAAAGTGTGAGCCCAGGAGGGGAAGGGAAAGGGGAGGGACACACAAAAGTCCCACTCCTGGTCCCACCACAGTCACAGACTCACTTCAGGACCCT... |
Task1_train_6962 | A genomic change on Chromosome 3 affects COL7A1 (collagen type VII alpha 1 chain). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Recessive dystrophic epidermolysis bullosa | ACGGGGGATATGGACAGACAGGGCTAGAGGCTGGGGTGGGGGCTGGAGAGGGGTCAGGGAAGATTGGGATTTAGGTTGGCAGGGGTAAGACTTGGCAGGAGAACAGAGACCAGGTCAGTGAAAATCAAGGTCAGTTCAGCAGGGTCAGAGGTTCAAAGCCAGGTCCCTGGGGCTGAGGGTTAGAGCCTGTATCAGCAGGGATAAGTGGTCATTGAGGAGGGGTGAGGAGCAGGGGTAGCAGGGGTCAAGGGCAAGAAGTCAGAACCAGAAAGGGCACAGCCAGGTCAGCTGGTATGAGCATTGCAGCCAGTGGGTTTACC... | ACGGGGGATATGGACAGACAGGGCTAGAGGCTGGGGTGGGGGCTGGAGAGGGGTCAGGGAAGATTGGGATTTAGGTTGGCAGGGGTAAGACTTGGCAGGAGAACAGAGACCAGGTCAGTGAAAATCAAGGTCAGTTCAGCAGGGTCAGAGGTTCAAAGCCAGGTCCCTGGGGCTGAGGGTTAGAGCCTGTATCAGCAGGGATAAGTGGTCATTGAGGAGGGGTGAGGAGCAGGGGTAGCAGGGGTCAAGGGCAAGAAGTCAGAACCAGAAAGGGCACAGCCAGGTCAGCTGGTATGAGCATTGCAGCCAGTGGGTTTACC... |
Task1_train_6963 | Here is a genetic alteration in COL7A1 (collagen type VII alpha 1 chain) on Chromosome 3. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; not provided | ACGGGGGATATGGACAGACAGGGCTAGAGGCTGGGGTGGGGGCTGGAGAGGGGTCAGGGAAGATTGGGATTTAGGTTGGCAGGGGTAAGACTTGGCAGGAGAACAGAGACCAGGTCAGTGAAAATCAAGGTCAGTTCAGCAGGGTCAGAGGTTCAAAGCCAGGTCCCTGGGGCTGAGGGTTAGAGCCTGTATCAGCAGGGATAAGTGGTCATTGAGGAGGGGTGAGGAGCAGGGGTAGCAGGGGTCAAGGGCAAGAAGTCAGAACCAGAAAGGGCACAGCCAGGTCAGCTGGTATGAGCATTGCAGCCAGTGGGTTTACC... | ACGGGGGATATGGACAGACAGGGCTAGAGGCTGGGGTGGGGGCTGGAGAGGGGTCAGGGAAGATTGGGATTTAGGTTGGCAGGGGTAAGACTTGGCAGGAGAACAGAGACCAGGTCAGTGAAAATCAAGGTCAGTTCAGCAGGGTCAGAGGTTCAAAGCCAGGTCCCTGGGGCTGAGGGTTAGAGCCTGTATCAGCAGGGATAAGTGGTCATTGAGGAGGGGTGAGGAGCAGGGGTAGCAGGGGTCAAGGGCAAGAAGTCAGAACCAGAAAGGGCACAGCCAGGTCAGCTGGTATGAGCATTGCAGCCAGTGGGTTTACC... |
Task1_train_6964 | Here is a genetic alteration in COL7A1 (collagen type VII alpha 1 chain) on Chromosome 3. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Epidermolysis bullosa dystrophica | GCCTGTATCAGCAGGGATAAGTGGTCATTGAGGAGGGGTGAGGAGCAGGGGTAGCAGGGGTCAAGGGCAAGAAGTCAGAACCAGAAAGGGCACAGCCAGGTCAGCTGGTATGAGCATTGCAGCCAGTGGGTTTACCCGGGATCCCGCTGGGCCTGGGGGTCCACGTTCGCCCTGATGGAAAAGAAGAGGTCAGAGCTGAGTTGGGCCCAGATCCTCCAGGGCCCTTGGCACCCCCCAGGTTGCACTTACCTTCTCTCCAGCCTCACCCAGGGGCCCTGGAAAGCCCCGGTCACCCTGAAGAGAGAGGGTGAGAGAAAGAC... | GCCTGTATCAGCAGGGATAAGTGGTCATTGAGGAGGGGTGAGGAGCAGGGGTAGCAGGGGTCAAGGGCAAGAAGTCAGAACCAGAAAGGGCACAGCCAGGTCAGCTGGTATGAGCATTGCAGCCAGTGGGTTTACCCGGGATCCCGCTGGGCCTGGGGGTCCACGTTCGCCCTGATGGAAAAGAAGAGGTCAGAGCTGAGTTGGGCCCAGATCCTCCAGGGCCCTTGGCACCCCCCAGGTTGCACTTACCTTCTCTCCAGCCTCACCCAGGGGCCCTGGAAAGCCCCGGTCACCCTGAAGAGAGAGGGTGAGAGAAAGAC... |
Task1_train_6965 | This genomic variant is located on Chromosome 3, within the COL7A1 (collagen type VII alpha 1 chain) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; not provided | GCTGGGCCTGGGGGTCCACGTTCGCCCTGATGGAAAAGAAGAGGTCAGAGCTGAGTTGGGCCCAGATCCTCCAGGGCCCTTGGCACCCCCCAGGTTGCACTTACCTTCTCTCCAGCCTCACCCAGGGGCCCTGGAAAGCCCCGGTCACCCTGAAGAGAGAGGGTGAGAGAAAGACAGAGAGAGAGAGGGTTGGTGGCGGGGCTTGAACGTCAAACCCCAGACAAGGGGTCCCAAACTCCAACCACCCCCTCCAAAACCACGACCTCTGACCTGGAGGGAACTCTTATCTCCTTATCTTCCAGCCTCCCCTAACACCATGG... | GCTGGGCCTGGGGGTCCACGTTCGCCCTGATGGAAAAGAAGAGGTCAGAGCTGAGTTGGGCCCAGATCCTCCAGGGCCCTTGGCACCCCCCAGGTTGCACTTACCTTCTCTCCAGCCTCACCCAGGGGCCCTGGAAAGCCCCGGTCACCCTGAAGAGAGAGGGTGAGAGAAAGACAGAGAGAGAGAGGGTTGGTGGCGGGGCTTGAACGTCAAACCCCAGACAAGGGGTCCCAAACTCCAACCACCCCCTCCAAAACCACGACCTCTGACCTGGAGGGAACTCTTATCTCCTTATCTTCCAGCCTCCCCTAACACCATGG... |
Task1_train_6966 | A mutation found in COL7A1 (collagen type VII alpha 1 chain) on Chromosome 3 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Epidermolysis bullosa dystrophica | AGACATGTCAGATGTGGGTCAGAGTGGCTAGCCCCAGGTGCAGCCTCTGTTCACCTCTCGATGAGGGACTCTTACCTTTGGACAATACACTGGGCAGGGCTCTGGCCGGGGCTGCGGACATAGGGTCTCTTTGAGGTTGAACATTTCTACCAAGAACCCCCAGACCCCTTATATTCTACCACCCAGTCCCCCAGAGGCCTCTTCCAAACCTGAGTAGTGAAGGATGCCTGACACAGGGCTGTGGCCAGACCACTGACTGCCTGGTCCAGGCTTGGCCCATCATCCACGGCGAAGAAGGTCTGGACAGAGTCCATACCCGG... | AGACATGTCAGATGTGGGTCAGAGTGGCTAGCCCCAGGTGCAGCCTCTGTTCACCTCTCGATGAGGGACTCTTACCTTTGGACAATACACTGGGCAGGGCTCTGGCCGGGGCTGCGGACATAGGGTCTCTTTGAGGTTGAACATTTCTACCAAGAACCCCCAGACCCCTTATATTCTACCACCCAGTCCCCCAGAGGCCTCTTCCAAACCTGAGTAGTGAAGGATGCCTGACACAGGGCTGTGGCCAGACCACTGACTGCCTGGTCCAGGCTTGGCCCATCATCCACGGCGAAGAAGGTCTGGACAGAGTCCATACCCGG... |
Task1_train_6967 | Gene COL7A1 (collagen type VII alpha 1 chain) on Chromosome 3 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Epidermolysis bullosa dystrophica | GGCTGAATATGTCACCTCTCAAGGGTTCATCCACTAGCAGAACCATCACCCCTGGTACGTGCTGGCGGCGCCCAGGAGCATCTGGTGCCAACATGTATCTGTGAGCTGTGACCACGGCTGTGCCTGGAAGGAAGGACATGTCAGAACCCTGGGGCACCAAGCTCCCAGTGGATAGCCCCAGGAGTCCATGCCTGCTGCAGTCCTCACCCAGGTTGTTCCCACTTGGGTCCATGTAGGGCATGTCACGGATCCTTTGCAAGATAATGCCAAGGTCATGGGAGCCATTCAGTGGGAACAGTGGGGAGGGCCGATGACTGTAA... | GGCTGAATATGTCACCTCTCAAGGGTTCATCCACTAGCAGAACCATCACCCCTGGTACGTGCTGGCGGCGCCCAGGAGCATCTGGTGCCAACATGTATCTGTGAGCTGTGACCACGGCTGTGCCTGGAAGGAAGGACATGTCAGAACCCTGGGGCACCAAGCTCCCAGTGGATAGCCCCAGGAGTCCATGCCTGCTGCAGTCCTCACCCAGGTTGTTCCCACTTGGGTCCATGTAGGGCATGTCACGGATCCTTTGCAAGATAATGCCAAGGTCATGGGAGCCATTCAGTGGGAACAGTGGGGAGGGCCGATGACTGTAA... |
Task1_train_6968 | A variant affecting Chromosome 3, within the gene COL7A1 (collagen type VII alpha 1 chain), has been observed. Determine if it's benign or associated with disease. | Pathogenic; not provided | CTGAGAACCCAGAAGGGAGAGATCTGAGATCCTGGGTCCGGTTTGTCTTATTGAAGCATCATGGGAGGTCATGCTGGGGTCACCCAGGGTCAGAGGGTGAGGGGTAGGGGTACAGGAGGAGTCACTCAGAGTCGGGGTGCAGGAAGTCAGGGTGGGTCATCAGCAGGGGAGGAGCACGCCAAGGTGAGGCAGGCTTACCAGTGCGCGCAGTCACCTCTGCAGAGGGCCCTTCTCCAGCTGGCCCTAGGACACTCAGCCTCACGCGGTACTGTGTCGCTGGCTCCAGCCCGTCCAGGTGATAGCTGCTGAGCTCGGGCCCC... | CTGAGAACCCAGAAGGGAGAGATCTGAGATCCTGGGTCCGGTTTGTCTTATTGAAGCATCATGGGAGGTCATGCTGGGGTCACCCAGGGTCAGAGGGTGAGGGGTAGGGGTACAGGAGGAGTCACTCAGAGTCGGGGTGCAGGAAGTCAGGGTGGGTCATCAGCAGGGGAGGAGCACGCCAAGGTGAGGCAGGCTTACCAGTGCGCGCAGTCACCTCTGCAGAGGGCCCTTCTCCAGCTGGCCCTAGGACACTCAGCCTCACGCGGTACTGTGTCGCTGGCTCCAGCCCGTCCAGGTGATAGCTGCTGAGCTCGGGCCCC... |
Task1_train_6969 | This alteration in COL7A1 (collagen type VII alpha 1 chain) on Chromosome 3 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Epidermolysis bullosa dystrophica | TATCCTGTGGCGCCAGGAACCCTGGTCCAGGTAATGGTGACAGATGAGCTGCTGGCCTGAGTCACATGGACCGTCCTCACTGGGCCCAGTGGGTCTAGTGGGGAGAGGCAATGGGGAGTCTGCTGGAACAGGCAGGAAGGAGTGGGGCTATCTGATAGGGGAAGATGATGGGAGTCTAACAGGAGACGGGAATTTGATAGAGGAGATGGTGAATAGGTCCAGTGGAGGAGTGGGGAGGTGGAGGTTTTAGGAAGCAGTGAGCAGGTCTGATGGAGGAGAAAGTGTAAATCTCAGAGGAGATTTGGGTCCAGCAAAAAAGG... | TATCCTGTGGCGCCAGGAACCCTGGTCCAGGTAATGGTGACAGATGAGCTGCTGGCCTGAGTCACATGGACCGTCCTCACTGGGCCCAGTGGGTCTAGTGGGGAGAGGCAATGGGGAGTCTGCTGGAACAGGCAGGAAGGAGTGGGGCTATCTGATAGGGGAAGATGATGGGAGTCTAACAGGAGACGGGAATTTGATAGAGGAGATGGTGAATAGGTCCAGTGGAGGAGTGGGGAGGTGGAGGTTTTAGGAAGCAGTGAGCAGGTCTGATGGAGGAGAAAGTGTAAATCTCAGAGGAGATTTGGGTCCAGCAAAAAAGG... |
Task1_train_6970 | A mutation found in COL7A1 (collagen type VII alpha 1 chain) on Chromosome 3 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Epidermolysis bullosa dystrophica | AAGGAGAGGGCTGGAGGTACACTCAGACCCCTCAGGCTGGAACTTCAGTGTGTGTGGTGGGGGTGCTGGCTGCGTCCACCTCACCCTGGGTGCTGCGCACAATGATGCGGTACTGGGTGGCACCAGGGACTGGGCTCCAGGACACTCGCACCCGCTGCCCGGGCAGCTCGGTGGCTTGCAGGTCTGTTACAGGGCTCACAGGCAGCTCTGGTCCTGTTGGAGAGCACAGCATAGAGGCAGCCTGGGGCTCCGACACCTCCCCCACTCACTGGCCCAGCCCACAGAGCCCTCACCAGTGGGAACCACGGTTGCAGGGGTGG... | AAGGAGAGGGCTGGAGGTACACTCAGACCCCTCAGGCTGGAACTTCAGTGTGTGTGGTGGGGGTGCTGGCTGCGTCCACCTCACCCTGGGTGCTGCGCACAATGATGCGGTACTGGGTGGCACCAGGGACTGGGCTCCAGGACACTCGCACCCGCTGCCCGGGCAGCTCGGTGGCTTGCAGGTCTGTTACAGGGCTCACAGGCAGCTCTGGTCCTGTTGGAGAGCACAGCATAGAGGCAGCCTGGGGCTCCGACACCTCCCCCACTCACTGGCCCAGCCCACAGAGCCCTCACCAGTGGGAACCACGGTTGCAGGGGTGG... |
Task1_train_6971 | The gene COL7A1 (collagen type VII alpha 1 chain) on Chromosome 3 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; COL7A1-related disorder | AAGGAGAGGGCTGGAGGTACACTCAGACCCCTCAGGCTGGAACTTCAGTGTGTGTGGTGGGGGTGCTGGCTGCGTCCACCTCACCCTGGGTGCTGCGCACAATGATGCGGTACTGGGTGGCACCAGGGACTGGGCTCCAGGACACTCGCACCCGCTGCCCGGGCAGCTCGGTGGCTTGCAGGTCTGTTACAGGGCTCACAGGCAGCTCTGGTCCTGTTGGAGAGCACAGCATAGAGGCAGCCTGGGGCTCCGACACCTCCCCCACTCACTGGCCCAGCCCACAGAGCCCTCACCAGTGGGAACCACGGTTGCAGGGGTGG... | AAGGAGAGGGCTGGAGGTACACTCAGACCCCTCAGGCTGGAACTTCAGTGTGTGTGGTGGGGGTGCTGGCTGCGTCCACCTCACCCTGGGTGCTGCGCACAATGATGCGGTACTGGGTGGCACCAGGGACTGGGCTCCAGGACACTCGCACCCGCTGCCCGGGCAGCTCGGTGGCTTGCAGGTCTGTTACAGGGCTCACAGGCAGCTCTGGTCCTGTTGGAGAGCACAGCATAGAGGCAGCCTGGGGCTCCGACACCTCCCCCACTCACTGGCCCAGCCCACAGAGCCCTCACCAGTGGGAACCACGGTTGCAGGGGTGG... |
Task1_train_6972 | The gene COL7A1 (collagen type VII alpha 1 chain) is located on Chromosome 3, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Recessive dystrophic epidermolysis bullosa | TACTGGGTGGCACCAGGGACTGGGCTCCAGGACACTCGCACCCGCTGCCCGGGCAGCTCGGTGGCTTGCAGGTCTGTTACAGGGCTCACAGGCAGCTCTGGTCCTGTTGGAGAGCACAGCATAGAGGCAGCCTGGGGCTCCGACACCTCCCCCACTCACTGGCCCAGCCCACAGAGCCCTCACCAGTGGGAACCACGGTTGCAGGGGTGGCCACCTCGTGGCCCTCCAGCAGAGTGTAGAGTGTGAGGCGGTACTCAGTGCCCGGCTGCAGCCCATCCAACTGGTAGCGGGTCACATCAGAGGGCAGTACCACCTTCTGC... | TACTGGGTGGCACCAGGGACTGGGCTCCAGGACACTCGCACCCGCTGCCCGGGCAGCTCGGTGGCTTGCAGGTCTGTTACAGGGCTCACAGGCAGCTCTGGTCCTGTTGGAGAGCACAGCATAGAGGCAGCCTGGGGCTCCGACACCTCCCCCACTCACTGGCCCAGCCCACAGAGCCCTCACCAGTGGGAACCACGGTTGCAGGGGTGGCCACCTCGTGGCCCTCCAGCAGAGTGTAGAGTGTGAGGCGGTACTCAGTGCCCGGCTGCAGCCCATCCAACTGGTAGCGGGTCACATCAGAGGGCAGTACCACCTTCTGC... |
Task1_train_6973 | Gene COL7A1 (collagen type VII alpha 1 chain) on Chromosome 3 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Epidermolysis bullosa pruriginosa | TACTGGGTGGCACCAGGGACTGGGCTCCAGGACACTCGCACCCGCTGCCCGGGCAGCTCGGTGGCTTGCAGGTCTGTTACAGGGCTCACAGGCAGCTCTGGTCCTGTTGGAGAGCACAGCATAGAGGCAGCCTGGGGCTCCGACACCTCCCCCACTCACTGGCCCAGCCCACAGAGCCCTCACCAGTGGGAACCACGGTTGCAGGGGTGGCCACCTCGTGGCCCTCCAGCAGAGTGTAGAGTGTGAGGCGGTACTCAGTGCCCGGCTGCAGCCCATCCAACTGGTAGCGGGTCACATCAGAGGGCAGTACCACCTTCTGC... | TACTGGGTGGCACCAGGGACTGGGCTCCAGGACACTCGCACCCGCTGCCCGGGCAGCTCGGTGGCTTGCAGGTCTGTTACAGGGCTCACAGGCAGCTCTGGTCCTGTTGGAGAGCACAGCATAGAGGCAGCCTGGGGCTCCGACACCTCCCCCACTCACTGGCCCAGCCCACAGAGCCCTCACCAGTGGGAACCACGGTTGCAGGGGTGGCCACCTCGTGGCCCTCCAGCAGAGTGTAGAGTGTGAGGCGGTACTCAGTGCCCGGCTGCAGCCCATCCAACTGGTAGCGGGTCACATCAGAGGGCAGTACCACCTTCTGC... |
Task1_train_6974 | Located on Chromosome 3, this mutation impacts COL7A1 (collagen type VII alpha 1 chain). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Pretibial dystrophic epidermolysis bullosa | TACTGGGTGGCACCAGGGACTGGGCTCCAGGACACTCGCACCCGCTGCCCGGGCAGCTCGGTGGCTTGCAGGTCTGTTACAGGGCTCACAGGCAGCTCTGGTCCTGTTGGAGAGCACAGCATAGAGGCAGCCTGGGGCTCCGACACCTCCCCCACTCACTGGCCCAGCCCACAGAGCCCTCACCAGTGGGAACCACGGTTGCAGGGGTGGCCACCTCGTGGCCCTCCAGCAGAGTGTAGAGTGTGAGGCGGTACTCAGTGCCCGGCTGCAGCCCATCCAACTGGTAGCGGGTCACATCAGAGGGCAGTACCACCTTCTGC... | TACTGGGTGGCACCAGGGACTGGGCTCCAGGACACTCGCACCCGCTGCCCGGGCAGCTCGGTGGCTTGCAGGTCTGTTACAGGGCTCACAGGCAGCTCTGGTCCTGTTGGAGAGCACAGCATAGAGGCAGCCTGGGGCTCCGACACCTCCCCCACTCACTGGCCCAGCCCACAGAGCCCTCACCAGTGGGAACCACGGTTGCAGGGGTGGCCACCTCGTGGCCCTCCAGCAGAGTGTAGAGTGTGAGGCGGTACTCAGTGCCCGGCTGCAGCCCATCCAACTGGTAGCGGGTCACATCAGAGGGCAGTACCACCTTCTGC... |
Task1_train_6975 | A variant on Chromosome 3 in gene COL7A1 (collagen type VII alpha 1 chain) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Dominant dystrophic epidermolysis bullosa with absence of skin | TACTGGGTGGCACCAGGGACTGGGCTCCAGGACACTCGCACCCGCTGCCCGGGCAGCTCGGTGGCTTGCAGGTCTGTTACAGGGCTCACAGGCAGCTCTGGTCCTGTTGGAGAGCACAGCATAGAGGCAGCCTGGGGCTCCGACACCTCCCCCACTCACTGGCCCAGCCCACAGAGCCCTCACCAGTGGGAACCACGGTTGCAGGGGTGGCCACCTCGTGGCCCTCCAGCAGAGTGTAGAGTGTGAGGCGGTACTCAGTGCCCGGCTGCAGCCCATCCAACTGGTAGCGGGTCACATCAGAGGGCAGTACCACCTTCTGC... | TACTGGGTGGCACCAGGGACTGGGCTCCAGGACACTCGCACCCGCTGCCCGGGCAGCTCGGTGGCTTGCAGGTCTGTTACAGGGCTCACAGGCAGCTCTGGTCCTGTTGGAGAGCACAGCATAGAGGCAGCCTGGGGCTCCGACACCTCCCCCACTCACTGGCCCAGCCCACAGAGCCCTCACCAGTGGGAACCACGGTTGCAGGGGTGGCCACCTCGTGGCCCTCCAGCAGAGTGTAGAGTGTGAGGCGGTACTCAGTGCCCGGCTGCAGCCCATCCAACTGGTAGCGGGTCACATCAGAGGGCAGTACCACCTTCTGC... |
Task1_train_6976 | The following genetic variant occurs in COL7A1 (collagen type VII alpha 1 chain) on Chromosome 3. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Nonsyndromic congenital nail disorder 8 | TACTGGGTGGCACCAGGGACTGGGCTCCAGGACACTCGCACCCGCTGCCCGGGCAGCTCGGTGGCTTGCAGGTCTGTTACAGGGCTCACAGGCAGCTCTGGTCCTGTTGGAGAGCACAGCATAGAGGCAGCCTGGGGCTCCGACACCTCCCCCACTCACTGGCCCAGCCCACAGAGCCCTCACCAGTGGGAACCACGGTTGCAGGGGTGGCCACCTCGTGGCCCTCCAGCAGAGTGTAGAGTGTGAGGCGGTACTCAGTGCCCGGCTGCAGCCCATCCAACTGGTAGCGGGTCACATCAGAGGGCAGTACCACCTTCTGC... | TACTGGGTGGCACCAGGGACTGGGCTCCAGGACACTCGCACCCGCTGCCCGGGCAGCTCGGTGGCTTGCAGGTCTGTTACAGGGCTCACAGGCAGCTCTGGTCCTGTTGGAGAGCACAGCATAGAGGCAGCCTGGGGCTCCGACACCTCCCCCACTCACTGGCCCAGCCCACAGAGCCCTCACCAGTGGGAACCACGGTTGCAGGGGTGGCCACCTCGTGGCCCTCCAGCAGAGTGTAGAGTGTGAGGCGGTACTCAGTGCCCGGCTGCAGCCCATCCAACTGGTAGCGGGTCACATCAGAGGGCAGTACCACCTTCTGC... |
Task1_train_6977 | With a mutation on Chromosome 3 in gene COL7A1 (collagen type VII alpha 1 chain), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Epidermolysis bullosa pruriginosa | TACTGGGTGGCACCAGGGACTGGGCTCCAGGACACTCGCACCCGCTGCCCGGGCAGCTCGGTGGCTTGCAGGTCTGTTACAGGGCTCACAGGCAGCTCTGGTCCTGTTGGAGAGCACAGCATAGAGGCAGCCTGGGGCTCCGACACCTCCCCCACTCACTGGCCCAGCCCACAGAGCCCTCACCAGTGGGAACCACGGTTGCAGGGGTGGCCACCTCGTGGCCCTCCAGCAGAGTGTAGAGTGTGAGGCGGTACTCAGTGCCCGGCTGCAGCCCATCCAACTGGTAGCGGGTCACATCAGAGGGCAGTACCACCTTCTGC... | TACTGGGTGGCACCAGGGACTGGGCTCCAGGACACTCGCACCCGCTGCCCGGGCAGCTCGGTGGCTTGCAGGTCTGTTACAGGGCTCACAGGCAGCTCTGGTCCTGTTGGAGAGCACAGCATAGAGGCAGCCTGGGGCTCCGACACCTCCCCCACTCACTGGCCCAGCCCACAGAGCCCTCACCAGTGGGAACCACGGTTGCAGGGGTGGCCACCTCGTGGCCCTCCAGCAGAGTGTAGAGTGTGAGGCGGTACTCAGTGCCCGGCTGCAGCCCATCCAACTGGTAGCGGGTCACATCAGAGGGCAGTACCACCTTCTGC... |
Task1_train_6978 | This variant impacts the gene COL7A1 (collagen type VII alpha 1 chain) on Chromosome 3. Is the change likely to result in a pathogenic outcome? | Pathogenic; Recessive dystrophic epidermolysis bullosa | TACTGGGTGGCACCAGGGACTGGGCTCCAGGACACTCGCACCCGCTGCCCGGGCAGCTCGGTGGCTTGCAGGTCTGTTACAGGGCTCACAGGCAGCTCTGGTCCTGTTGGAGAGCACAGCATAGAGGCAGCCTGGGGCTCCGACACCTCCCCCACTCACTGGCCCAGCCCACAGAGCCCTCACCAGTGGGAACCACGGTTGCAGGGGTGGCCACCTCGTGGCCCTCCAGCAGAGTGTAGAGTGTGAGGCGGTACTCAGTGCCCGGCTGCAGCCCATCCAACTGGTAGCGGGTCACATCAGAGGGCAGTACCACCTTCTGC... | TACTGGGTGGCACCAGGGACTGGGCTCCAGGACACTCGCACCCGCTGCCCGGGCAGCTCGGTGGCTTGCAGGTCTGTTACAGGGCTCACAGGCAGCTCTGGTCCTGTTGGAGAGCACAGCATAGAGGCAGCCTGGGGCTCCGACACCTCCCCCACTCACTGGCCCAGCCCACAGAGCCCTCACCAGTGGGAACCACGGTTGCAGGGGTGGCCACCTCGTGGCCCTCCAGCAGAGTGTAGAGTGTGAGGCGGTACTCAGTGCCCGGCTGCAGCCCATCCAACTGGTAGCGGGTCACATCAGAGGGCAGTACCACCTTCTGC... |
Task1_train_6979 | A change on Chromosome 3 affects gene COL7A1 (collagen type VII alpha 1 chain). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Generalized dominant dystrophic epidermolysis bullosa | TACTGGGTGGCACCAGGGACTGGGCTCCAGGACACTCGCACCCGCTGCCCGGGCAGCTCGGTGGCTTGCAGGTCTGTTACAGGGCTCACAGGCAGCTCTGGTCCTGTTGGAGAGCACAGCATAGAGGCAGCCTGGGGCTCCGACACCTCCCCCACTCACTGGCCCAGCCCACAGAGCCCTCACCAGTGGGAACCACGGTTGCAGGGGTGGCCACCTCGTGGCCCTCCAGCAGAGTGTAGAGTGTGAGGCGGTACTCAGTGCCCGGCTGCAGCCCATCCAACTGGTAGCGGGTCACATCAGAGGGCAGTACCACCTTCTGC... | TACTGGGTGGCACCAGGGACTGGGCTCCAGGACACTCGCACCCGCTGCCCGGGCAGCTCGGTGGCTTGCAGGTCTGTTACAGGGCTCACAGGCAGCTCTGGTCCTGTTGGAGAGCACAGCATAGAGGCAGCCTGGGGCTCCGACACCTCCCCCACTCACTGGCCCAGCCCACAGAGCCCTCACCAGTGGGAACCACGGTTGCAGGGGTGGCCACCTCGTGGCCCTCCAGCAGAGTGTAGAGTGTGAGGCGGTACTCAGTGCCCGGCTGCAGCCCATCCAACTGGTAGCGGGTCACATCAGAGGGCAGTACCACCTTCTGC... |
Task1_train_6980 | Here’s a variant in COL7A1 (collagen type VII alpha 1 chain) located on Chromosome 3. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Transient bullous dermolysis of the newborn | TACTGGGTGGCACCAGGGACTGGGCTCCAGGACACTCGCACCCGCTGCCCGGGCAGCTCGGTGGCTTGCAGGTCTGTTACAGGGCTCACAGGCAGCTCTGGTCCTGTTGGAGAGCACAGCATAGAGGCAGCCTGGGGCTCCGACACCTCCCCCACTCACTGGCCCAGCCCACAGAGCCCTCACCAGTGGGAACCACGGTTGCAGGGGTGGCCACCTCGTGGCCCTCCAGCAGAGTGTAGAGTGTGAGGCGGTACTCAGTGCCCGGCTGCAGCCCATCCAACTGGTAGCGGGTCACATCAGAGGGCAGTACCACCTTCTGC... | TACTGGGTGGCACCAGGGACTGGGCTCCAGGACACTCGCACCCGCTGCCCGGGCAGCTCGGTGGCTTGCAGGTCTGTTACAGGGCTCACAGGCAGCTCTGGTCCTGTTGGAGAGCACAGCATAGAGGCAGCCTGGGGCTCCGACACCTCCCCCACTCACTGGCCCAGCCCACAGAGCCCTCACCAGTGGGAACCACGGTTGCAGGGGTGGCCACCTCGTGGCCCTCCAGCAGAGTGTAGAGTGTGAGGCGGTACTCAGTGCCCGGCTGCAGCCCATCCAACTGGTAGCGGGTCACATCAGAGGGCAGTACCACCTTCTGC... |
Task1_train_6981 | A variant on Chromosome 3 in gene COL7A1 (collagen type VII alpha 1 chain) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Anonychia | TACTGGGTGGCACCAGGGACTGGGCTCCAGGACACTCGCACCCGCTGCCCGGGCAGCTCGGTGGCTTGCAGGTCTGTTACAGGGCTCACAGGCAGCTCTGGTCCTGTTGGAGAGCACAGCATAGAGGCAGCCTGGGGCTCCGACACCTCCCCCACTCACTGGCCCAGCCCACAGAGCCCTCACCAGTGGGAACCACGGTTGCAGGGGTGGCCACCTCGTGGCCCTCCAGCAGAGTGTAGAGTGTGAGGCGGTACTCAGTGCCCGGCTGCAGCCCATCCAACTGGTAGCGGGTCACATCAGAGGGCAGTACCACCTTCTGC... | TACTGGGTGGCACCAGGGACTGGGCTCCAGGACACTCGCACCCGCTGCCCGGGCAGCTCGGTGGCTTGCAGGTCTGTTACAGGGCTCACAGGCAGCTCTGGTCCTGTTGGAGAGCACAGCATAGAGGCAGCCTGGGGCTCCGACACCTCCCCCACTCACTGGCCCAGCCCACAGAGCCCTCACCAGTGGGAACCACGGTTGCAGGGGTGGCCACCTCGTGGCCCTCCAGCAGAGTGTAGAGTGTGAGGCGGTACTCAGTGCCCGGCTGCAGCCCATCCAACTGGTAGCGGGTCACATCAGAGGGCAGTACCACCTTCTGC... |
Task1_train_6982 | A sequence alteration has been identified in COL7A1 (collagen type VII alpha 1 chain) on Chromosome 3. Is it disease-inducing or harmless? | Pathogenic; Abnormality of the skin | TACTGGGTGGCACCAGGGACTGGGCTCCAGGACACTCGCACCCGCTGCCCGGGCAGCTCGGTGGCTTGCAGGTCTGTTACAGGGCTCACAGGCAGCTCTGGTCCTGTTGGAGAGCACAGCATAGAGGCAGCCTGGGGCTCCGACACCTCCCCCACTCACTGGCCCAGCCCACAGAGCCCTCACCAGTGGGAACCACGGTTGCAGGGGTGGCCACCTCGTGGCCCTCCAGCAGAGTGTAGAGTGTGAGGCGGTACTCAGTGCCCGGCTGCAGCCCATCCAACTGGTAGCGGGTCACATCAGAGGGCAGTACCACCTTCTGC... | TACTGGGTGGCACCAGGGACTGGGCTCCAGGACACTCGCACCCGCTGCCCGGGCAGCTCGGTGGCTTGCAGGTCTGTTACAGGGCTCACAGGCAGCTCTGGTCCTGTTGGAGAGCACAGCATAGAGGCAGCCTGGGGCTCCGACACCTCCCCCACTCACTGGCCCAGCCCACAGAGCCCTCACCAGTGGGAACCACGGTTGCAGGGGTGGCCACCTCGTGGCCCTCCAGCAGAGTGTAGAGTGTGAGGCGGTACTCAGTGCCCGGCTGCAGCCCATCCAACTGGTAGCGGGTCACATCAGAGGGCAGTACCACCTTCTGC... |
Task1_train_6983 | An alteration has been detected in COL7A1 (collagen type VII alpha 1 chain) on Chromosome 3. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Nail dystrophy | TACTGGGTGGCACCAGGGACTGGGCTCCAGGACACTCGCACCCGCTGCCCGGGCAGCTCGGTGGCTTGCAGGTCTGTTACAGGGCTCACAGGCAGCTCTGGTCCTGTTGGAGAGCACAGCATAGAGGCAGCCTGGGGCTCCGACACCTCCCCCACTCACTGGCCCAGCCCACAGAGCCCTCACCAGTGGGAACCACGGTTGCAGGGGTGGCCACCTCGTGGCCCTCCAGCAGAGTGTAGAGTGTGAGGCGGTACTCAGTGCCCGGCTGCAGCCCATCCAACTGGTAGCGGGTCACATCAGAGGGCAGTACCACCTTCTGC... | TACTGGGTGGCACCAGGGACTGGGCTCCAGGACACTCGCACCCGCTGCCCGGGCAGCTCGGTGGCTTGCAGGTCTGTTACAGGGCTCACAGGCAGCTCTGGTCCTGTTGGAGAGCACAGCATAGAGGCAGCCTGGGGCTCCGACACCTCCCCCACTCACTGGCCCAGCCCACAGAGCCCTCACCAGTGGGAACCACGGTTGCAGGGGTGGCCACCTCGTGGCCCTCCAGCAGAGTGTAGAGTGTGAGGCGGTACTCAGTGCCCGGCTGCAGCCCATCCAACTGGTAGCGGGTCACATCAGAGGGCAGTACCACCTTCTGC... |
Task1_train_6984 | Here is a genetic alteration in COL7A1 (collagen type VII alpha 1 chain) on Chromosome 3. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Skin erosion | TACTGGGTGGCACCAGGGACTGGGCTCCAGGACACTCGCACCCGCTGCCCGGGCAGCTCGGTGGCTTGCAGGTCTGTTACAGGGCTCACAGGCAGCTCTGGTCCTGTTGGAGAGCACAGCATAGAGGCAGCCTGGGGCTCCGACACCTCCCCCACTCACTGGCCCAGCCCACAGAGCCCTCACCAGTGGGAACCACGGTTGCAGGGGTGGCCACCTCGTGGCCCTCCAGCAGAGTGTAGAGTGTGAGGCGGTACTCAGTGCCCGGCTGCAGCCCATCCAACTGGTAGCGGGTCACATCAGAGGGCAGTACCACCTTCTGC... | TACTGGGTGGCACCAGGGACTGGGCTCCAGGACACTCGCACCCGCTGCCCGGGCAGCTCGGTGGCTTGCAGGTCTGTTACAGGGCTCACAGGCAGCTCTGGTCCTGTTGGAGAGCACAGCATAGAGGCAGCCTGGGGCTCCGACACCTCCCCCACTCACTGGCCCAGCCCACAGAGCCCTCACCAGTGGGAACCACGGTTGCAGGGGTGGCCACCTCGTGGCCCTCCAGCAGAGTGTAGAGTGTGAGGCGGTACTCAGTGCCCGGCTGCAGCCCATCCAACTGGTAGCGGGTCACATCAGAGGGCAGTACCACCTTCTGC... |
Task1_train_6985 | Chromosome 3 houses a mutation in gene COL7A1 (collagen type VII alpha 1 chain). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Epidermolysis bullosa dystrophica | TACTGGGTGGCACCAGGGACTGGGCTCCAGGACACTCGCACCCGCTGCCCGGGCAGCTCGGTGGCTTGCAGGTCTGTTACAGGGCTCACAGGCAGCTCTGGTCCTGTTGGAGAGCACAGCATAGAGGCAGCCTGGGGCTCCGACACCTCCCCCACTCACTGGCCCAGCCCACAGAGCCCTCACCAGTGGGAACCACGGTTGCAGGGGTGGCCACCTCGTGGCCCTCCAGCAGAGTGTAGAGTGTGAGGCGGTACTCAGTGCCCGGCTGCAGCCCATCCAACTGGTAGCGGGTCACATCAGAGGGCAGTACCACCTTCTGC... | TACTGGGTGGCACCAGGGACTGGGCTCCAGGACACTCGCACCCGCTGCCCGGGCAGCTCGGTGGCTTGCAGGTCTGTTACAGGGCTCACAGGCAGCTCTGGTCCTGTTGGAGAGCACAGCATAGAGGCAGCCTGGGGCTCCGACACCTCCCCCACTCACTGGCCCAGCCCACAGAGCCCTCACCAGTGGGAACCACGGTTGCAGGGGTGGCCACCTCGTGGCCCTCCAGCAGAGTGTAGAGTGTGAGGCGGTACTCAGTGCCCGGCTGCAGCCCATCCAACTGGTAGCGGGTCACATCAGAGGGCAGTACCACCTTCTGC... |
Task1_train_6986 | Consider this mutation in COL7A1 (collagen type VII alpha 1 chain) on Chromosome 3. Is this a benign change or a disease-causing variant? | Pathogenic; not provided | GTCACAGGCACGCCACCAGCAGTCGTGCACACTCTCCGGGAAACGAGGGGCAGTAGTGTCCTCAAGATGCTGAAGTCATTGACGAAGAAGAAGAAGTCACTGGTGGGCTGTGAGGCAACTCGCTTCAGCTCCTCAGGGTCAGCATTCTTGATCCCTGAAGTGACGACCCATCAGGACTCAGTCACCCACATGCTCTCTGACTGCCCCCACCCCCCAGCTGACCTGTCACTCCTGCTCGGTCCTTACCCACAGCAAATAGCTTGACCCCCTGCCCCTTCAGCCTTTGGGCAGCTGTGTCCACCAGGTCCTGGGACTTCCCG... | GTCACAGGCACGCCACCAGCAGTCGTGCACACTCTCCGGGAAACGAGGGGCAGTAGTGTCCTCAAGATGCTGAAGTCATTGACGAAGAAGAAGAAGTCACTGGTGGGCTGTGAGGCAACTCGCTTCAGCTCCTCAGGGTCAGCATTCTTGATCCCTGAAGTGACGACCCATCAGGACTCAGTCACCCACATGCTCTCTGACTGCCCCCACCCCCCAGCTGACCTGTCACTCCTGCTCGGTCCTTACCCACAGCAAATAGCTTGACCCCCTGCCCCTTCAGCCTTTGGGCAGCTGTGTCCACCAGGTCCTGGGACTTCCCG... |
Task1_train_6987 | A sequence alteration has been identified in COL7A1 (collagen type VII alpha 1 chain) on Chromosome 3. Is it disease-inducing or harmless? | Pathogenic; Recessive dystrophic epidermolysis bullosa | TCACAGGCACGCCACCAGCAGTCGTGCACACTCTCCGGGAAACGAGGGGCAGTAGTGTCCTCAAGATGCTGAAGTCATTGACGAAGAAGAAGAAGTCACTGGTGGGCTGTGAGGCAACTCGCTTCAGCTCCTCAGGGTCAGCATTCTTGATCCCTGAAGTGACGACCCATCAGGACTCAGTCACCCACATGCTCTCTGACTGCCCCCACCCCCCAGCTGACCTGTCACTCCTGCTCGGTCCTTACCCACAGCAAATAGCTTGACCCCCTGCCCCTTCAGCCTTTGGGCAGCTGTGTCCACCAGGTCCTGGGACTTCCCGT... | TCACAGGCACGCCACCAGCAGTCGTGCACACTCTCCGGGAAACGAGGGGCAGTAGTGTCCTCAAGATGCTGAAGTCATTGACGAAGAAGAAGAAGTCACTGGTGGGCTGTGAGGCAACTCGCTTCAGCTCCTCAGGGTCAGCATTCTTGATCCCTGAAGTGACGACCCATCAGGACTCAGTCACCCACATGCTCTCTGACTGCCCCCACCCCCCAGCTGACCTGTCACTCCTGCTCGGTCCTTACCCACAGCAAATAGCTTGACCCCCTGCCCCTTCAGCCTTTGGGCAGCTGTGTCCACCAGGTCCTGGGACTTCCCGT... |
Task1_train_6988 | This is a variant in UQCRC1 (ubiquinol-cytochrome c reductase core protein 1), located on Chromosome 3. Is this mutation a likely cause of disease or not? | Pathogenic; Parkinsonism with polyneuropathy | ATCTACTGCCCCATGGACTCCATGCCAATGCCAAAAGAGGGATGACACACTTCTCAGCAGAGGATTTTATTGGTGGTCACCTGTGGCACAGGTTAGAGGAGCCGAAGTGCTGTGTTTGTGGTGGGGGGGGGACCACAAACCCCGGCCCTGCCCTCTTGCTTACATAGGCTTCCCGCCTAGAAGCGCAGCCAGAACATGCCGCTACGGATCCGGTTGTAGTCTGGGAGCTGCTCAATGGGGCCTGTGGGGATAGGGTGGAGCGTCAGGGTGGGGTACCTGGCCTGCACAGGGACACCTGGCCCTGTGCCGCACCCAGCTCG... | ATCTACTGCCCCATGGACTCCATGCCAATGCCAAAAGAGGGATGACACACTTCTCAGCAGAGGATTTTATTGGTGGTCACCTGTGGCACAGGTTAGAGGAGCCGAAGTGCTGTGTTTGTGGTGGGGGGGGGACCACAAACCCCGGCCCTGCCCTCTTGCTTACATAGGCTTCCCGCCTAGAAGCGCAGCCAGAACATGCCGCTACGGATCCGGTTGTAGTCTGGGAGCTGCTCAATGGGGCCTGTGGGGATAGGGTGGAGCGTCAGGGTGGGGTACCTGGCCTGCACAGGGACACCTGGCCCTGTGCCGCACCCAGCTCG... |
Task1_train_6989 | Given a variant located on Chromosome 3 and affecting UQCRC1 (ubiquinol-cytochrome c reductase core protein 1), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Parkinsonism with polyneuropathy | CCATGGACTCCATGCCAATGCCAAAAGAGGGATGACACACTTCTCAGCAGAGGATTTTATTGGTGGTCACCTGTGGCACAGGTTAGAGGAGCCGAAGTGCTGTGTTTGTGGTGGGGGGGGGACCACAAACCCCGGCCCTGCCCTCTTGCTTACATAGGCTTCCCGCCTAGAAGCGCAGCCAGAACATGCCGCTACGGATCCGGTTGTAGTCTGGGAGCTGCTCAATGGGGCCTGTGGGGATAGGGTGGAGCGTCAGGGTGGGGTACCTGGCCTGCACAGGGACACCTGGCCCTGTGCCGCACCCAGCTCGGAGATGCTGC... | CCATGGACTCCATGCCAATGCCAAAAGAGGGATGACACACTTCTCAGCAGAGGATTTTATTGGTGGTCACCTGTGGCACAGGTTAGAGGAGCCGAAGTGCTGTGTTTGTGGTGGGGGGGGGACCACAAACCCCGGCCCTGCCCTCTTGCTTACATAGGCTTCCCGCCTAGAAGCGCAGCCAGAACATGCCGCTACGGATCCGGTTGTAGTCTGGGAGCTGCTCAATGGGGCCTGTGGGGATAGGGTGGAGCGTCAGGGTGGGGTACCTGGCCTGCACAGGGACACCTGGCCCTGTGCCGCACCCAGCTCGGAGATGCTGC... |
Task1_train_6990 | The gene SLC25A20 (solute carrier family 25 member 20) on Chromosome 3 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Carnitine acylcarnitine translocase deficiency | TAGCATAATCTGCCTGATTAGTAAAGTTAAGCTAGCTACCTCAGATCGCACAGCAACTCCAAAGCCCACATGAAAACCCGAGATTGCTTTTGTCCTTTTAGAACAACTGACTCTCCATCTGTTAGCTCAGACACCCATGGTGCTCAGGGAAGAGAGGGGAATAAATGAAGGGATGGGTTGCAGGCTGGGCCTTGGGAGGGCCTGTCTGCCAGGCTTGCATTGAGGCCTGTGTGAACAATTACCAGTCGGGTCACACCACCCCACACACCCTCCCTAGAGCAGCCGGGGCTAGGGCAGTCAGAGAAGGCAGAGCCAGCCAA... | TAGCATAATCTGCCTGATTAGTAAAGTTAAGCTAGCTACCTCAGATCGCACAGCAACTCCAAAGCCCACATGAAAACCCGAGATTGCTTTTGTCCTTTTAGAACAACTGACTCTCCATCTGTTAGCTCAGACACCCATGGTGCTCAGGGAAGAGAGGGGAATAAATGAAGGGATGGGTTGCAGGCTGGGCCTTGGGAGGGCCTGTCTGCCAGGCTTGCATTGAGGCCTGTGTGAACAATTACCAGTCGGGTCACACCACCCCACACACCCTCCCTAGAGCAGCCGGGGCTAGGGCAGTCAGAGAAGGCAGAGCCAGCCAA... |
Task1_train_6991 | Assess the clinical impact of this variant on gene SLC25A20 (solute carrier family 25 member 20), found on Chromosome 3. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Carnitine acylcarnitine translocase deficiency | CCTCACTGTGTAGGAGGGAAAGTTCTCCACCTGCTCCCAGAAAATTAGGCTACTCCAGTTTTACTTTTGATTATTTGCAGGCATAAAAAAAAAAAATCAAAATCCAACGATTAACAGTCTATCTCCTCCTAGGCATATATGCTCAATCCACTTGGACACAGAGGTGGGCCTCAAGTCCATATCCACATGTACAGCCCAGGATTAGATGGCACCCTGGAAATCAAATGGGTATTCCTGGCTAGGGACTGAAGAAGATCTCAGCTCCTGGTGATCTGGTTGAAAATATGCACAGTGCCTCCAGTGAGAACCTGAGATTCTCT... | CCTCACTGTGTAGGAGGGAAAGTTCTCCACCTGCTCCCAGAAAATTAGGCTACTCCAGTTTTACTTTTGATTATTTGCAGGCATAAAAAAAAAAAATCAAAATCCAACGATTAACAGTCTATCTCCTCCTAGGCATATATGCTCAATCCACTTGGACACAGAGGTGGGCCTCAAGTCCATATCCACATGTACAGCCCAGGATTAGATGGCACCCTGGAAATCAAATGGGTATTCCTGGCTAGGGACTGAAGAAGATCTCAGCTCCTGGTGATCTGGTTGAAAATATGCACAGTGCCTCCAGTGAGAACCTGAGATTCTCT... |
Task1_train_6992 | Gene SLC25A20 (solute carrier family 25 member 20) on Chromosome 3 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Carnitine acylcarnitine translocase deficiency | TTCTCCACCTGCTCCCAGAAAATTAGGCTACTCCAGTTTTACTTTTGATTATTTGCAGGCATAAAAAAAAAAAATCAAAATCCAACGATTAACAGTCTATCTCCTCCTAGGCATATATGCTCAATCCACTTGGACACAGAGGTGGGCCTCAAGTCCATATCCACATGTACAGCCCAGGATTAGATGGCACCCTGGAAATCAAATGGGTATTCCTGGCTAGGGACTGAAGAAGATCTCAGCTCCTGGTGATCTGGTTGAAAATATGCACAGTGCCTCCAGTGAGAACCTGAGATTCTCTCTTTAATGAGGAATACTTTGAC... | TTCTCCACCTGCTCCCAGAAAATTAGGCTACTCCAGTTTTACTTTTGATTATTTGCAGGCATAAAAAAAAAAAATCAAAATCCAACGATTAACAGTCTATCTCCTCCTAGGCATATATGCTCAATCCACTTGGACACAGAGGTGGGCCTCAAGTCCATATCCACATGTACAGCCCAGGATTAGATGGCACCCTGGAAATCAAATGGGTATTCCTGGCTAGGGACTGAAGAAGATCTCAGCTCCTGGTGATCTGGTTGAAAATATGCACAGTGCCTCCAGTGAGAACCTGAGATTCTCTCTTTAATGAGGAATACTTTGAC... |
Task1_train_6993 | The gene P4HTM (prolyl 4-hydroxylase, transmembrane), on Chromosome 3, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities | CCCAGCAGACAGCTTCCCTGGTCTAAGTGAGATCTCCCTTGCCTTCCTCTTGTCCACCTGGAGTCATGCCGAAGCGCCTAAAATGGTAGTGCTGCTACCTGTGCTAACTGCTGGGGAGGGGTGGGCAGGGAAGCTGTCATGCAAGTGGTGCCCCCTCTGGTAATAACTCTCAGGAGGTTTCTGAGGTGTGGTCATCACCCTCATGCCCAAATTCTGGACCAAGAGAGGAAGATACAGCAGTTAGAAAGGACTTGGAACAGTGGCTTTGCGGCTGGTGAACCAGAGTGAAGAATCTGGCCGTGACCTGTGGCTGGATGGCT... | CCCAGCAGACAGCTTCCCTGGTCTAAGTGAGATCTCCCTTGCCTTCCTCTTGTCCACCTGGAGTCATGCCGAAGCGCCTAAAATGGTAGTGCTGCTACCTGTGCTAACTGCTGGGGAGGGGTGGGCAGGGAAGCTGTCATGCAAGTGGTGCCCCCTCTGGTAATAACTCTCAGGAGGTTTCTGAGGTGTGGTCATCACCCTCATGCCCAAATTCTGGACCAAGAGAGGAAGATACAGCAGTTAGAAAGGACTTGGAACAGTGGCTTTGCGGCTGGTGAACCAGAGTGAAGAATCTGGCCGTGACCTGTGGCTGGATGGCT... |
Task1_train_6994 | The variant affects gene LOC129936729, NDUFAF3 (ATAC-STARR-seq lymphoblastoid silent region 14349| NADH:ubiquinone oxidoreductase complex assembly factor 3), which is on Chromosome 3. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; not provided | TTGGCAAGGCCCCTTTCTGGGCCAGGGCTGAGGCCCTGCTGGGAGGCGCCGAAAGAGCACTGGGCGGACACGACATTCCCGATGGCTTCTCGGGTGCCCACTCAACGGGAGTGATCGTGTCATTCCAAAGCGCTTTCCATTCTGAAGGTGCATGACCTGGAGACAACTGCTTAGCAGGGTTGGGAACCCTCAGTCAAACTGAGGACTTCAGATACTCTCATCCACGAAGACGGTTGGGGTGGTTTTTCCCCAGGAAGTAAGAGGGCTATCTTTAGCGAGATGCGGGCTGAGGCAGCCCTGGGGGAGTCACTACCATTGCA... | TTGGCAAGGCCCCTTTCTGGGCCAGGGCTGAGGCCCTGCTGGGAGGCGCCGAAAGAGCACTGGGCGGACACGACATTCCCGATGGCTTCTCGGGTGCCCACTCAACGGGAGTGATCGTGTCATTCCAAAGCGCTTTCCATTCTGAAGGTGCATGACCTGGAGACAACTGCTTAGCAGGGTTGGGAACCCTCAGTCAAACTGAGGACTTCAGATACTCTCATCCACGAAGACGGTTGGGGTGGTTTTTCCCCAGGAAGTAAGAGGGCTATCTTTAGCGAGATGCGGGCTGAGGCAGCCCTGGGGGAGTCACTACCATTGCA... |
Task1_train_6995 | Gene LOC129936731, NDUFAF3 (ATAC-STARR-seq lymphoblastoid silent region 14351| NADH:ubiquinone oxidoreductase complex assembly factor 3) on Chromosome 3 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Mitochondrial complex 1 deficiency, nuclear type 18 | CTCGCCAATCCTCCCCAGGGTTCCAGAGATGGCCACCAGCCTCGGCTCTCCCACGTCTACACCCATCACCTCCAGCCTGAGGGCGCAACTGAGAGGAACTGAGACCCAAGCAGCTCAGTAAAGTATGTCTGGGGGTCAGGGGCACCCCATCTGGGCCAGGGCGCTGCTCAGGCAGGAGAGCAGGGGACGAAATCCAAGCGCAGCTGGAATGCTCTGGAGACAACAGCTGCTTTTGGGATTCCGTTGCCCGCTGTCCAGCCGTTGGCGGGGGGCGGGGGAGCTCCTGCCCCCAGGTCACTCGCCCTGGGGCCACATCAGAA... | CTCGCCAATCCTCCCCAGGGTTCCAGAGATGGCCACCAGCCTCGGCTCTCCCACGTCTACACCCATCACCTCCAGCCTGAGGGCGCAACTGAGAGGAACTGAGACCCAAGCAGCTCAGTAAAGTATGTCTGGGGGTCAGGGGCACCCCATCTGGGCCAGGGCGCTGCTCAGGCAGGAGAGCAGGGGACGAAATCCAAGCGCAGCTGGAATGCTCTGGAGACAACAGCTGCTTTTGGGATTCCGTTGCCCGCTGTCCAGCCGTTGGCGGGGGGCGGGGGAGCTCCTGCCCCCAGGTCACTCGCCCTGGGGCCACATCAGAA... |
Task1_train_6996 | A sequence alteration has been identified in NDUFAF3 (NADH:ubiquinone oxidoreductase complex assembly factor 3) on Chromosome 3. Is it disease-inducing or harmless? | Pathogenic; Mitochondrial complex 1 deficiency, nuclear type 18 | AGAACAATAGAAGGGGAGGTGGGGGCCTCCCCTGGGACCGGGTCCCGATCCGGATTAGATCCGTGGGGCAGGATTAGCCCTGTTGGTCCCACGAAGCCTGGGCCACTGGTGCGGTGACGGTGGTGGGGCGGGCTTCGGAATCCGTCAGGAGGGAAGCGCGCCCGTGGGGCCGGAGAGGAAGTAAACCCGCGCGTCCACCTCGGGGACACCCCCGCGCTCGGTGGCCTTTGTCCGGTGACGCTGCCAGCGCCCGGAGCACCAGGGGCCGAAGGGGTCCACAGAGCAGCCGCGGGACCCCCGGAAACCCATTGCGACCGGCC... | AGAACAATAGAAGGGGAGGTGGGGGCCTCCCCTGGGACCGGGTCCCGATCCGGATTAGATCCGTGGGGCAGGATTAGCCCTGTTGGTCCCACGAAGCCTGGGCCACTGGTGCGGTGACGGTGGTGGGGCGGGCTTCGGAATCCGTCAGGAGGGAAGCGCGCCCGTGGGGCCGGAGAGGAAGTAAACCCGCGCGTCCACCTCGGGGACACCCCCGCGCTCGGTGGCCTTTGTCCGGTGACGCTGCCAGCGCCCGGAGCACCAGGGGCCGAAGGGGTCCACAGAGCAGCCGCGGGACCCCCGGAAACCCATTGCGACCGGCC... |
Task1_train_6997 | Consider this mutation in QARS1 (glutaminyl-tRNA synthetase 1) on Chromosome 3. Is this a benign change or a disease-causing variant? | Pathogenic; not provided | CATACCTCACCTCACCCTCAGGGACTCAGGGCCATGCCCATCCCTACCTTGAACTTCTTCTCCAGATCAGCCTCCAACTTGGGGCCCAGAAGGTGGAGGACCTGAGCAGAGACCAGAATCAGGCAGAGGCAGGAGTATCCTCTTTCAAGGAGCCCCTGACTGATCCTACCCACCAACCCAAGGCTTCCTGGCCTATCTACCAGCACTGACTGAAAAAACCTACCTAGCCCATCCCATCTCTTCTCATGTGGGTCTGCTAGCTTAAAATGCTCTTGCTCTTGTTGCCCAGACTGGAGTCTTGCTCATGTTGCCCAGGCTGG... | CATACCTCACCTCACCCTCAGGGACTCAGGGCCATGCCCATCCCTACCTTGAACTTCTTCTCCAGATCAGCCTCCAACTTGGGGCCCAGAAGGTGGAGGACCTGAGCAGAGACCAGAATCAGGCAGAGGCAGGAGTATCCTCTTTCAAGGAGCCCCTGACTGATCCTACCCACCAACCCAAGGCTTCCTGGCCTATCTACCAGCACTGACTGAAAAAACCTACCTAGCCCATCCCATCTCTTCTCATGTGGGTCTGCTAGCTTAAAATGCTCTTGCTCTTGTTGCCCAGACTGGAGTCTTGCTCATGTTGCCCAGGCTGG... |
Task1_train_6998 | This alteration in QARS1 (glutaminyl-tRNA synthetase 1) on Chromosome 3 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome | CCAGGCTGGAATGCAATGGCACAGTCTCCGCTCACTGCAACCTCCGCCTCCTGGATTCAAGCGATTTTCCTACCTCAGCCCTTCTGAGTACCTGGGACTGCATGTGCCCGCCACCACACCCAGCTAATTTTTGTACTTTTTGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGTTCTCAAACTCCTGACCTCAGGTGATCTGCCCACCTCAGCCTCCCAATAGTGTTGGGATTACAGGTGTGAGCCACCATGCCCAGCCCCCTCCCACCTTTTTTTATTGTTGTTGATTTTGAGACAGGGTCTCATTCTGTACTCCAG... | CCAGGCTGGAATGCAATGGCACAGTCTCCGCTCACTGCAACCTCCGCCTCCTGGATTCAAGCGATTTTCCTACCTCAGCCCTTCTGAGTACCTGGGACTGCATGTGCCCGCCACCACACCCAGCTAATTTTTGTACTTTTTGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGTTCTCAAACTCCTGACCTCAGGTGATCTGCCCACCTCAGCCTCCCAATAGTGTTGGGATTACAGGTGTGAGCCACCATGCCCAGCCCCCTCCCACCTTTTTTTATTGTTGTTGATTTTGAGACAGGGTCTCATTCTGTACTCCAG... |
Task1_train_6999 | A variant on Chromosome 3 in gene QARS1 (glutaminyl-tRNA synthetase 1) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome | CAGGCTGGAATGCAATGGCACAGTCTCCGCTCACTGCAACCTCCGCCTCCTGGATTCAAGCGATTTTCCTACCTCAGCCCTTCTGAGTACCTGGGACTGCATGTGCCCGCCACCACACCCAGCTAATTTTTGTACTTTTTGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGTTCTCAAACTCCTGACCTCAGGTGATCTGCCCACCTCAGCCTCCCAATAGTGTTGGGATTACAGGTGTGAGCCACCATGCCCAGCCCCCTCCCACCTTTTTTTATTGTTGTTGATTTTGAGACAGGGTCTCATTCTGTACTCCAGG... | CAGGCTGGAATGCAATGGCACAGTCTCCGCTCACTGCAACCTCCGCCTCCTGGATTCAAGCGATTTTCCTACCTCAGCCCTTCTGAGTACCTGGGACTGCATGTGCCCGCCACCACACCCAGCTAATTTTTGTACTTTTTGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGTTCTCAAACTCCTGACCTCAGGTGATCTGCCCACCTCAGCCTCCCAATAGTGTTGGGATTACAGGTGTGAGCCACCATGCCCAGCCCCCTCCCACCTTTTTTTATTGTTGTTGATTTTGAGACAGGGTCTCATTCTGTACTCCAGG... |
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