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_22200 | A sequence alteration has been identified in CCNF (cyclin F) on Chromosome 16. Is it disease-inducing or harmless? | Pathogenic; Frontotemporal dementia and/or amyotrophic lateral sclerosis 5 | AGATCCACGCCTTCCTCAGCTCTCCCTCGGGGCGGAGAACCAAACGGTTAGTTACCCTGCGTTCTGGCTGCGCCATACAATGCTGGCATCCTCGTGCCGGCCCAGTTCCCTCAGCGCTTCCTCACACAGAGAGGCCCCCAAGGCTTGTCAGGGGAGCAGCAGATCCCAGGACAGTGACCCTGGGACGGAGCCCTGCAGTCATGCCTCGGGCCCCTGCGTAACCTCCACTGTCTCCAGCCCAGGTCTCCTTCCTCAGAGGCTATTGCCTCTCGCTCTGACTGGGCTCCCTGTGGAGGAAGATGGTTTCGAGCACGCGGGAG... | AGATCCACGCCTTCCTCAGCTCTCCCTCGGGGCGGAGAACCAAACGGTTAGTTACCCTGCGTTCTGGCTGCGCCATACAATGCTGGCATCCTCGTGCCGGCCCAGTTCCCTCAGCGCTTCCTCACACAGAGAGGCCCCCAAGGCTTGTCAGGGGAGCAGCAGATCCCAGGACAGTGACCCTGGGACGGAGCCCTGCAGTCATGCCTCGGGCCCCTGCGTAACCTCCACTGTCTCCAGCCCAGGTCTCCTTCCTCAGAGGCTATTGCCTCTCGCTCTGACTGGGCTCCCTGTGGAGGAAGATGGTTTCGAGCACGCGGGAG... |
Task1_train_22201 | Gene LOC105371050, CCNF (uncharacterized LOC105371050| cyclin F) on Chromosome 16 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Frontotemporal dementia and/or amyotrophic lateral sclerosis 5 | CCTTCCTCAGCTCTCCCTCGGGGCGGAGAACCAAACGGTTAGTTACCCTGCGTTCTGGCTGCGCCATACAATGCTGGCATCCTCGTGCCGGCCCAGTTCCCTCAGCGCTTCCTCACACAGAGAGGCCCCCAAGGCTTGTCAGGGGAGCAGCAGATCCCAGGACAGTGACCCTGGGACGGAGCCCTGCAGTCATGCCTCGGGCCCCTGCGTAACCTCCACTGTCTCCAGCCCAGGTCTCCTTCCTCAGAGGCTATTGCCTCTCGCTCTGACTGGGCTCCCTGTGGAGGAAGATGGTTTCGAGCACGCGGGAGCCTAGCCTG... | CCTTCCTCAGCTCTCCCTCGGGGCGGAGAACCAAACGGTTAGTTACCCTGCGTTCTGGCTGCGCCATACAATGCTGGCATCCTCGTGCCGGCCCAGTTCCCTCAGCGCTTCCTCACACAGAGAGGCCCCCAAGGCTTGTCAGGGGAGCAGCAGATCCCAGGACAGTGACCCTGGGACGGAGCCCTGCAGTCATGCCTCGGGCCCCTGCGTAACCTCCACTGTCTCCAGCCCAGGTCTCCTTCCTCAGAGGCTATTGCCTCTCGCTCTGACTGGGCTCCCTGTGGAGGAAGATGGTTTCGAGCACGCGGGAGCCTAGCCTG... |
Task1_train_22202 | The gene TBC1D24 (TBC1 domain family member 24) is located on Chromosome 16, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; DOORS syndrome | AATCCCAACACTTTGGGAGGCCGAGGTGGGTGGATCACGAGATCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAACTGGCTGGGTGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAGCCCGGGAGGCGGAAGTTGCAGTGAGCCGAGATTACGCCACTGCACTCCAGCCCGTGCGACAGTGCAAGACTCTGTCTCAAAAAAAAAAAAAAAGGGAGAACTAGAACGAAGCATCTCTTTGCTCAAAGTGATCTTCTCAACTGG... | AATCCCAACACTTTGGGAGGCCGAGGTGGGTGGATCACGAGATCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAACTGGCTGGGTGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAGCCCGGGAGGCGGAAGTTGCAGTGAGCCGAGATTACGCCACTGCACTCCAGCCCGTGCGACAGTGCAAGACTCTGTCTCAAAAAAAAAAAAAAAGGGAGAACTAGAACGAAGCATCTCTTTGCTCAAAGTGATCTTCTCAACTGG... |
Task1_train_22203 | Here’s a variant in TBC1D24 (TBC1 domain family member 24) located on Chromosome 16. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Developmental and epileptic encephalopathy, 1 | CAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAACTGGCTGGGTGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAGCCCGGGAGGCGGAAGTTGCAGTGAGCCGAGATTACGCCACTGCACTCCAGCCCGTGCGACAGTGCAAGACTCTGTCTCAAAAAAAAAAAAAAAGGGAGAACTAGAACGAAGCATCTCTTTGCTCAAAGTGATCTTCTCAACTGGGGGTTCCTTTTCAGAAGGCCCCCAGGGTGCAGGGTGGTGTTTAGGAGCCTGGAGTGG... | CAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAACTGGCTGGGTGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAGCCCGGGAGGCGGAAGTTGCAGTGAGCCGAGATTACGCCACTGCACTCCAGCCCGTGCGACAGTGCAAGACTCTGTCTCAAAAAAAAAAAAAAAGGGAGAACTAGAACGAAGCATCTCTTTGCTCAAAGTGATCTTCTCAACTGGGGGTTCCTTTTCAGAAGGCCCCCAGGGTGCAGGGTGGTGTTTAGGAGCCTGGAGTGG... |
Task1_train_22204 | A mutation on Chromosome 16 affecting TBC1D24 (TBC1 domain family member 24) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Caused by mutation in the TBC1 domain family, member 24 | CAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAACTGGCTGGGTGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAGCCCGGGAGGCGGAAGTTGCAGTGAGCCGAGATTACGCCACTGCACTCCAGCCCGTGCGACAGTGCAAGACTCTGTCTCAAAAAAAAAAAAAAAGGGAGAACTAGAACGAAGCATCTCTTTGCTCAAAGTGATCTTCTCAACTGGGGGTTCCTTTTCAGAAGGCCCCCAGGGTGCAGGGTGGTGTTTAGGAGCCTGGAGTGG... | CAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAACTGGCTGGGTGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAGCCCGGGAGGCGGAAGTTGCAGTGAGCCGAGATTACGCCACTGCACTCCAGCCCGTGCGACAGTGCAAGACTCTGTCTCAAAAAAAAAAAAAAAGGGAGAACTAGAACGAAGCATCTCTTTGCTCAAAGTGATCTTCTCAACTGGGGGTTCCTTTTCAGAAGGCCCCCAGGGTGCAGGGTGGTGTTTAGGAGCCTGGAGTGG... |
Task1_train_22205 | Consider this mutation in TBC1D24 (TBC1 domain family member 24) on Chromosome 16. Is this a benign change or a disease-causing variant? | Pathogenic; Autosomal dominant nonsyndromic hearing loss 65 | CAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAACTGGCTGGGTGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAGCCCGGGAGGCGGAAGTTGCAGTGAGCCGAGATTACGCCACTGCACTCCAGCCCGTGCGACAGTGCAAGACTCTGTCTCAAAAAAAAAAAAAAAGGGAGAACTAGAACGAAGCATCTCTTTGCTCAAAGTGATCTTCTCAACTGGGGGTTCCTTTTCAGAAGGCCCCCAGGGTGCAGGGTGGTGTTTAGGAGCCTGGAGTGG... | CAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAACTGGCTGGGTGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAGCCCGGGAGGCGGAAGTTGCAGTGAGCCGAGATTACGCCACTGCACTCCAGCCCGTGCGACAGTGCAAGACTCTGTCTCAAAAAAAAAAAAAAAGGGAGAACTAGAACGAAGCATCTCTTTGCTCAAAGTGATCTTCTCAACTGGGGGTTCCTTTTCAGAAGGCCCCCAGGGTGCAGGGTGGTGTTTAGGAGCCTGGAGTGG... |
Task1_train_22206 | With a mutation on Chromosome 16 in gene TBC1D24 (TBC1 domain family member 24), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Developmental and epileptic encephalopathy, 1 | AGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAACTGGCTGGGTGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAGCCCGGGAGGCGGAAGTTGCAGTGAGCCGAGATTACGCCACTGCACTCCAGCCCGTGCGACAGTGCAAGACTCTGTCTCAAAAAAAAAAAAAAAGGGAGAACTAGAACGAAGCATCTCTTTGCTCAAAGTGATCTTCTCAACTGGGGGTTCCTTTTCAGAAGGCCCCCAGGGTGCAGGGTGGTGTTTAGGAGCCTGGAGTGGA... | AGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAACTGGCTGGGTGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAGCCCGGGAGGCGGAAGTTGCAGTGAGCCGAGATTACGCCACTGCACTCCAGCCCGTGCGACAGTGCAAGACTCTGTCTCAAAAAAAAAAAAAAAGGGAGAACTAGAACGAAGCATCTCTTTGCTCAAAGTGATCTTCTCAACTGGGGGTTCCTTTTCAGAAGGCCCCCAGGGTGCAGGGTGGTGTTTAGGAGCCTGGAGTGGA... |
Task1_train_22207 | Given this context: Chromosome 16, gene TBC1D24 (TBC1 domain family member 24) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Autosomal dominant nonsyndromic hearing loss 65 | AGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAACTGGCTGGGTGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAGCCCGGGAGGCGGAAGTTGCAGTGAGCCGAGATTACGCCACTGCACTCCAGCCCGTGCGACAGTGCAAGACTCTGTCTCAAAAAAAAAAAAAAAGGGAGAACTAGAACGAAGCATCTCTTTGCTCAAAGTGATCTTCTCAACTGGGGGTTCCTTTTCAGAAGGCCCCCAGGGTGCAGGGTGGTGTTTAGGAGCCTGGAGTGGA... | AGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAACTGGCTGGGTGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAGCCCGGGAGGCGGAAGTTGCAGTGAGCCGAGATTACGCCACTGCACTCCAGCCCGTGCGACAGTGCAAGACTCTGTCTCAAAAAAAAAAAAAAAGGGAGAACTAGAACGAAGCATCTCTTTGCTCAAAGTGATCTTCTCAACTGGGGGTTCCTTTTCAGAAGGCCCCCAGGGTGCAGGGTGGTGTTTAGGAGCCTGGAGTGGA... |
Task1_train_22208 | With a mutation on Chromosome 16 in gene TBC1D24 (TBC1 domain family member 24), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Caused by mutation in the TBC1 domain family, member 24 | AGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAACTGGCTGGGTGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAGCCCGGGAGGCGGAAGTTGCAGTGAGCCGAGATTACGCCACTGCACTCCAGCCCGTGCGACAGTGCAAGACTCTGTCTCAAAAAAAAAAAAAAAGGGAGAACTAGAACGAAGCATCTCTTTGCTCAAAGTGATCTTCTCAACTGGGGGTTCCTTTTCAGAAGGCCCCCAGGGTGCAGGGTGGTGTTTAGGAGCCTGGAGTGGA... | AGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAACTGGCTGGGTGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAGCCCGGGAGGCGGAAGTTGCAGTGAGCCGAGATTACGCCACTGCACTCCAGCCCGTGCGACAGTGCAAGACTCTGTCTCAAAAAAAAAAAAAAAGGGAGAACTAGAACGAAGCATCTCTTTGCTCAAAGTGATCTTCTCAACTGGGGGTTCCTTTTCAGAAGGCCCCCAGGGTGCAGGGTGGTGTTTAGGAGCCTGGAGTGGA... |
Task1_train_22209 | This variant affects the gene TBC1D24 (TBC1 domain family member 24) found on Chromosome 16. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Autosomal recessive nonsyndromic hearing loss 86 | AGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAACTGGCTGGGTGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAGCCCGGGAGGCGGAAGTTGCAGTGAGCCGAGATTACGCCACTGCACTCCAGCCCGTGCGACAGTGCAAGACTCTGTCTCAAAAAAAAAAAAAAAGGGAGAACTAGAACGAAGCATCTCTTTGCTCAAAGTGATCTTCTCAACTGGGGGTTCCTTTTCAGAAGGCCCCCAGGGTGCAGGGTGGTGTTTAGGAGCCTGGAGTGGA... | AGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAACTGGCTGGGTGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAGCCCGGGAGGCGGAAGTTGCAGTGAGCCGAGATTACGCCACTGCACTCCAGCCCGTGCGACAGTGCAAGACTCTGTCTCAAAAAAAAAAAAAAAGGGAGAACTAGAACGAAGCATCTCTTTGCTCAAAGTGATCTTCTCAACTGGGGGTTCCTTTTCAGAAGGCCCCCAGGGTGCAGGGTGGTGTTTAGGAGCCTGGAGTGGA... |
Task1_train_22210 | The gene TBC1D24 (TBC1 domain family member 24) on Chromosome 16 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome | AGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAACTGGCTGGGTGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAGCCCGGGAGGCGGAAGTTGCAGTGAGCCGAGATTACGCCACTGCACTCCAGCCCGTGCGACAGTGCAAGACTCTGTCTCAAAAAAAAAAAAAAAGGGAGAACTAGAACGAAGCATCTCTTTGCTCAAAGTGATCTTCTCAACTGGGGGTTCCTTTTCAGAAGGCCCCCAGGGTGCAGGGTGGTGTTTAGGAGCCTGGAGTGGA... | AGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAACTGGCTGGGTGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAGCCCGGGAGGCGGAAGTTGCAGTGAGCCGAGATTACGCCACTGCACTCCAGCCCGTGCGACAGTGCAAGACTCTGTCTCAAAAAAAAAAAAAAAGGGAGAACTAGAACGAAGCATCTCTTTGCTCAAAGTGATCTTCTCAACTGGGGGTTCCTTTTCAGAAGGCCCCCAGGGTGCAGGGTGGTGTTTAGGAGCCTGGAGTGGA... |
Task1_train_22211 | This is a variant in TBC1D24 (TBC1 domain family member 24), located on Chromosome 16. Is this mutation a likely cause of disease or not? | Pathogenic; Developmental and epileptic encephalopathy, 16 | AGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAACTGGCTGGGTGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAGCCCGGGAGGCGGAAGTTGCAGTGAGCCGAGATTACGCCACTGCACTCCAGCCCGTGCGACAGTGCAAGACTCTGTCTCAAAAAAAAAAAAAAAGGGAGAACTAGAACGAAGCATCTCTTTGCTCAAAGTGATCTTCTCAACTGGGGGTTCCTTTTCAGAAGGCCCCCAGGGTGCAGGGTGGTGTTTAGGAGCCTGGAGTGGA... | AGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAACTGGCTGGGTGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAGCCCGGGAGGCGGAAGTTGCAGTGAGCCGAGATTACGCCACTGCACTCCAGCCCGTGCGACAGTGCAAGACTCTGTCTCAAAAAAAAAAAAAAAGGGAGAACTAGAACGAAGCATCTCTTTGCTCAAAGTGATCTTCTCAACTGGGGGTTCCTTTTCAGAAGGCCCCCAGGGTGCAGGGTGGTGTTTAGGAGCCTGGAGTGGA... |
Task1_train_22212 | Chromosome 16 houses a mutation in gene TBC1D24 (TBC1 domain family member 24). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Autosomal dominant nonsyndromic hearing loss 65 | AGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAACTGGCTGGGTGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAGCCCGGGAGGCGGAAGTTGCAGTGAGCCGAGATTACGCCACTGCACTCCAGCCCGTGCGACAGTGCAAGACTCTGTCTCAAAAAAAAAAAAAAAGGGAGAACTAGAACGAAGCATCTCTTTGCTCAAAGTGATCTTCTCAACTGGGGGTTCCTTTTCAGAAGGCCCCCAGGGTGCAGGGTGGTGTTTAGGAGCCTGGAGTGGA... | AGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAACTGGCTGGGTGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAGCCCGGGAGGCGGAAGTTGCAGTGAGCCGAGATTACGCCACTGCACTCCAGCCCGTGCGACAGTGCAAGACTCTGTCTCAAAAAAAAAAAAAAAGGGAGAACTAGAACGAAGCATCTCTTTGCTCAAAGTGATCTTCTCAACTGGGGGTTCCTTTTCAGAAGGCCCCCAGGGTGCAGGGTGGTGTTTAGGAGCCTGGAGTGGA... |
Task1_train_22213 | The following genetic variant occurs in TBC1D24 (TBC1 domain family member 24) on Chromosome 16. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; DOORS syndrome | AGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAACTGGCTGGGTGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAGCCCGGGAGGCGGAAGTTGCAGTGAGCCGAGATTACGCCACTGCACTCCAGCCCGTGCGACAGTGCAAGACTCTGTCTCAAAAAAAAAAAAAAAGGGAGAACTAGAACGAAGCATCTCTTTGCTCAAAGTGATCTTCTCAACTGGGGGTTCCTTTTCAGAAGGCCCCCAGGGTGCAGGGTGGTGTTTAGGAGCCTGGAGTGGA... | AGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAACTGGCTGGGTGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAGCCCGGGAGGCGGAAGTTGCAGTGAGCCGAGATTACGCCACTGCACTCCAGCCCGTGCGACAGTGCAAGACTCTGTCTCAAAAAAAAAAAAAAAGGGAGAACTAGAACGAAGCATCTCTTTGCTCAAAGTGATCTTCTCAACTGGGGGTTCCTTTTCAGAAGGCCCCCAGGGTGCAGGGTGGTGTTTAGGAGCCTGGAGTGGA... |
Task1_train_22214 | Here is a mutation in TBC1D24 (TBC1 domain family member 24) on Chromosome 16. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Familial infantile myoclonic epilepsy | AGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAACTGGCTGGGTGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAGCCCGGGAGGCGGAAGTTGCAGTGAGCCGAGATTACGCCACTGCACTCCAGCCCGTGCGACAGTGCAAGACTCTGTCTCAAAAAAAAAAAAAAAGGGAGAACTAGAACGAAGCATCTCTTTGCTCAAAGTGATCTTCTCAACTGGGGGTTCCTTTTCAGAAGGCCCCCAGGGTGCAGGGTGGTGTTTAGGAGCCTGGAGTGGA... | AGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAACTGGCTGGGTGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAGCCCGGGAGGCGGAAGTTGCAGTGAGCCGAGATTACGCCACTGCACTCCAGCCCGTGCGACAGTGCAAGACTCTGTCTCAAAAAAAAAAAAAAAGGGAGAACTAGAACGAAGCATCTCTTTGCTCAAAGTGATCTTCTCAACTGGGGGTTCCTTTTCAGAAGGCCCCCAGGGTGCAGGGTGGTGTTTAGGAGCCTGGAGTGGA... |
Task1_train_22215 | A genetic alteration is present in TBC1D24 (TBC1 domain family member 24) on Chromosome 16. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Autosomal recessive nonsyndromic hearing loss 86 | AGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAACTGGCTGGGTGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAGCCCGGGAGGCGGAAGTTGCAGTGAGCCGAGATTACGCCACTGCACTCCAGCCCGTGCGACAGTGCAAGACTCTGTCTCAAAAAAAAAAAAAAAGGGAGAACTAGAACGAAGCATCTCTTTGCTCAAAGTGATCTTCTCAACTGGGGGTTCCTTTTCAGAAGGCCCCCAGGGTGCAGGGTGGTGTTTAGGAGCCTGGAGTGGA... | AGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAACTGGCTGGGTGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAGCCCGGGAGGCGGAAGTTGCAGTGAGCCGAGATTACGCCACTGCACTCCAGCCCGTGCGACAGTGCAAGACTCTGTCTCAAAAAAAAAAAAAAAGGGAGAACTAGAACGAAGCATCTCTTTGCTCAAAGTGATCTTCTCAACTGGGGGTTCCTTTTCAGAAGGCCCCCAGGGTGCAGGGTGGTGTTTAGGAGCCTGGAGTGGA... |
Task1_train_22216 | Assess the clinical impact of this variant on gene TBC1D24 (TBC1 domain family member 24), found on Chromosome 16. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; DOORS syndrome | CCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAACTGGCTGGGTGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAGCCCGGGAGGCGGAAGTTGCAGTGAGCCGAGATTACGCCACTGCACTCCAGCCCGTGCGACAGTGCAAGACTCTGTCTCAAAAAAAAAAAAAAAGGGAGAACTAGAACGAAGCATCTCTTTGCTCAAAGTGATCTTCTCAACTGGGGGTTCCTTTTCAGAAGGCCCCCAGGGTGCAGGGTGGTGTTTAGGAGCCTGGAGTGGACC... | CCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAACTGGCTGGGTGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAGCCCGGGAGGCGGAAGTTGCAGTGAGCCGAGATTACGCCACTGCACTCCAGCCCGTGCGACAGTGCAAGACTCTGTCTCAAAAAAAAAAAAAAAGGGAGAACTAGAACGAAGCATCTCTTTGCTCAAAGTGATCTTCTCAACTGGGGGTTCCTTTTCAGAAGGCCCCCAGGGTGCAGGGTGGTGTTTAGGAGCCTGGAGTGGACC... |
Task1_train_22217 | A variant has been detected on Chromosome 16 in TBC1D24 (TBC1 domain family member 24). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Developmental and epileptic encephalopathy, 1 | CCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAACTGGCTGGGTGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAGCCCGGGAGGCGGAAGTTGCAGTGAGCCGAGATTACGCCACTGCACTCCAGCCCGTGCGACAGTGCAAGACTCTGTCTCAAAAAAAAAAAAAAAGGGAGAACTAGAACGAAGCATCTCTTTGCTCAAAGTGATCTTCTCAACTGGGGGTTCCTTTTCAGAAGGCCCCCAGGGTGCAGGGTGGTGTTTAGGAGCCTGGAGTGGACC... | CCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAACTGGCTGGGTGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAGCCCGGGAGGCGGAAGTTGCAGTGAGCCGAGATTACGCCACTGCACTCCAGCCCGTGCGACAGTGCAAGACTCTGTCTCAAAAAAAAAAAAAAAGGGAGAACTAGAACGAAGCATCTCTTTGCTCAAAGTGATCTTCTCAACTGGGGGTTCCTTTTCAGAAGGCCCCCAGGGTGCAGGGTGGTGTTTAGGAGCCTGGAGTGGACC... |
Task1_train_22218 | Gene TBC1D24 (TBC1 domain family member 24), found on Chromosome 16, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Autosomal dominant nonsyndromic hearing loss 65 | CCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAACTGGCTGGGTGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAGCCCGGGAGGCGGAAGTTGCAGTGAGCCGAGATTACGCCACTGCACTCCAGCCCGTGCGACAGTGCAAGACTCTGTCTCAAAAAAAAAAAAAAAGGGAGAACTAGAACGAAGCATCTCTTTGCTCAAAGTGATCTTCTCAACTGGGGGTTCCTTTTCAGAAGGCCCCCAGGGTGCAGGGTGGTGTTTAGGAGCCTGGAGTGGACC... | CCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAACTGGCTGGGTGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAGCCCGGGAGGCGGAAGTTGCAGTGAGCCGAGATTACGCCACTGCACTCCAGCCCGTGCGACAGTGCAAGACTCTGTCTCAAAAAAAAAAAAAAAGGGAGAACTAGAACGAAGCATCTCTTTGCTCAAAGTGATCTTCTCAACTGGGGGTTCCTTTTCAGAAGGCCCCCAGGGTGCAGGGTGGTGTTTAGGAGCCTGGAGTGGACC... |
Task1_train_22219 | Here’s a variant in TBC1D24 (TBC1 domain family member 24) located on Chromosome 16. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Caused by mutation in the TBC1 domain family, member 24 | CCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAACTGGCTGGGTGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAGCCCGGGAGGCGGAAGTTGCAGTGAGCCGAGATTACGCCACTGCACTCCAGCCCGTGCGACAGTGCAAGACTCTGTCTCAAAAAAAAAAAAAAAGGGAGAACTAGAACGAAGCATCTCTTTGCTCAAAGTGATCTTCTCAACTGGGGGTTCCTTTTCAGAAGGCCCCCAGGGTGCAGGGTGGTGTTTAGGAGCCTGGAGTGGACC... | CCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAACTGGCTGGGTGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAGCCCGGGAGGCGGAAGTTGCAGTGAGCCGAGATTACGCCACTGCACTCCAGCCCGTGCGACAGTGCAAGACTCTGTCTCAAAAAAAAAAAAAAAGGGAGAACTAGAACGAAGCATCTCTTTGCTCAAAGTGATCTTCTCAACTGGGGGTTCCTTTTCAGAAGGCCCCCAGGGTGCAGGGTGGTGTTTAGGAGCCTGGAGTGGACC... |
Task1_train_22220 | Assess the clinical impact of this variant on gene TBC1D24 (TBC1 domain family member 24), found on Chromosome 16. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Autosomal recessive nonsyndromic hearing loss 86 | CCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAGCCCGGGAGGCGGAAGTTGCAGTGAGCCGAGATTACGCCACTGCACTCCAGCCCGTGCGACAGTGCAAGACTCTGTCTCAAAAAAAAAAAAAAAGGGAGAACTAGAACGAAGCATCTCTTTGCTCAAAGTGATCTTCTCAACTGGGGGTTCCTTTTCAGAAGGCCCCCAGGGTGCAGGGTGGTGTTTAGGAGCCTGGAGTGGACCATGCTCGAGTGGAAAGGTGTTTTCAGCAGGGTCAGCCTCTTTTTTTGGTAGAGATGGGGTCTCACCATGTTGCCCA... | CCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAGCCCGGGAGGCGGAAGTTGCAGTGAGCCGAGATTACGCCACTGCACTCCAGCCCGTGCGACAGTGCAAGACTCTGTCTCAAAAAAAAAAAAAAAGGGAGAACTAGAACGAAGCATCTCTTTGCTCAAAGTGATCTTCTCAACTGGGGGTTCCTTTTCAGAAGGCCCCCAGGGTGCAGGGTGGTGTTTAGGAGCCTGGAGTGGACCATGCTCGAGTGGAAAGGTGTTTTCAGCAGGGTCAGCCTCTTTTTTTGGTAGAGATGGGGTCTCACCATGTTGCCCA... |
Task1_train_22221 | A sequence alteration has been identified in TBC1D24 (TBC1 domain family member 24) on Chromosome 16. Is it disease-inducing or harmless? | Pathogenic; Autosomal recessive nonsyndromic hearing loss 86 | AGGCTGAGGCAGGAGAATCACTTGAGCCCGGGAGGCGGAAGTTGCAGTGAGCCGAGATTACGCCACTGCACTCCAGCCCGTGCGACAGTGCAAGACTCTGTCTCAAAAAAAAAAAAAAAGGGAGAACTAGAACGAAGCATCTCTTTGCTCAAAGTGATCTTCTCAACTGGGGGTTCCTTTTCAGAAGGCCCCCAGGGTGCAGGGTGGTGTTTAGGAGCCTGGAGTGGACCATGCTCGAGTGGAAAGGTGTTTTCAGCAGGGTCAGCCTCTTTTTTTGGTAGAGATGGGGTCTCACCATGTTGCCCAGGCTGGTCTTGAAC... | AGGCTGAGGCAGGAGAATCACTTGAGCCCGGGAGGCGGAAGTTGCAGTGAGCCGAGATTACGCCACTGCACTCCAGCCCGTGCGACAGTGCAAGACTCTGTCTCAAAAAAAAAAAAAAAGGGAGAACTAGAACGAAGCATCTCTTTGCTCAAAGTGATCTTCTCAACTGGGGGTTCCTTTTCAGAAGGCCCCCAGGGTGCAGGGTGGTGTTTAGGAGCCTGGAGTGGACCATGCTCGAGTGGAAAGGTGTTTTCAGCAGGGTCAGCCTCTTTTTTTGGTAGAGATGGGGTCTCACCATGTTGCCCAGGCTGGTCTTGAAC... |
Task1_train_22222 | A variant has been detected on Chromosome 16 in TBC1D24 (TBC1 domain family member 24). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; DOORS syndrome | AAAAAAAAAAAAAAGGGAGAACTAGAACGAAGCATCTCTTTGCTCAAAGTGATCTTCTCAACTGGGGGTTCCTTTTCAGAAGGCCCCCAGGGTGCAGGGTGGTGTTTAGGAGCCTGGAGTGGACCATGCTCGAGTGGAAAGGTGTTTTCAGCAGGGTCAGCCTCTTTTTTTGGTAGAGATGGGGTCTCACCATGTTGCCCAGGCTGGTCTTGAACTCCTGGCCTCAACTAGTCCTCCCACCTTGGCCTCCTGAGTAGCTGAGATTATAGATATGAGCCACTGTGCCCAGCCAAGGGCCAAGCTCTTGAAGCCCTTCTGGG... | AAAAAAAAAAAAAAGGGAGAACTAGAACGAAGCATCTCTTTGCTCAAAGTGATCTTCTCAACTGGGGGTTCCTTTTCAGAAGGCCCCCAGGGTGCAGGGTGGTGTTTAGGAGCCTGGAGTGGACCATGCTCGAGTGGAAAGGTGTTTTCAGCAGGGTCAGCCTCTTTTTTTGGTAGAGATGGGGTCTCACCATGTTGCCCAGGCTGGTCTTGAACTCCTGGCCTCAACTAGTCCTCCCACCTTGGCCTCCTGAGTAGCTGAGATTATAGATATGAGCCACTGTGCCCAGCCAAGGGCCAAGCTCTTGAAGCCCTTCTGGG... |
Task1_train_22223 | A change on Chromosome 16 affects gene TBC1D24 (TBC1 domain family member 24). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Autosomal dominant nonsyndromic hearing loss 65 | TGCTCGAGTGGAAAGGTGTTTTCAGCAGGGTCAGCCTCTTTTTTTGGTAGAGATGGGGTCTCACCATGTTGCCCAGGCTGGTCTTGAACTCCTGGCCTCAACTAGTCCTCCCACCTTGGCCTCCTGAGTAGCTGAGATTATAGATATGAGCCACTGTGCCCAGCCAAGGGCCAAGCTCTTGAAGCCCTTCTGGGAACTCTATCTCTAGCCTCTCATTACTCAGAATCTGTGTGATGTATTCCAGTAACTTCATAAGTTCTGTGAAAAGAAGGTATACTCCAAAGTTTGTAACGGCTTCTCAAAAGTCACTTATCTTAAGT... | TGCTCGAGTGGAAAGGTGTTTTCAGCAGGGTCAGCCTCTTTTTTTGGTAGAGATGGGGTCTCACCATGTTGCCCAGGCTGGTCTTGAACTCCTGGCCTCAACTAGTCCTCCCACCTTGGCCTCCTGAGTAGCTGAGATTATAGATATGAGCCACTGTGCCCAGCCAAGGGCCAAGCTCTTGAAGCCCTTCTGGGAACTCTATCTCTAGCCTCTCATTACTCAGAATCTGTGTGATGTATTCCAGTAACTTCATAAGTTCTGTGAAAAGAAGGTATACTCCAAAGTTTGTAACGGCTTCTCAAAAGTCACTTATCTTAAGT... |
Task1_train_22224 | A mutation found in TBC1D24 (TBC1 domain family member 24) on Chromosome 16 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Developmental and epileptic encephalopathy, 1 | TGCTCGAGTGGAAAGGTGTTTTCAGCAGGGTCAGCCTCTTTTTTTGGTAGAGATGGGGTCTCACCATGTTGCCCAGGCTGGTCTTGAACTCCTGGCCTCAACTAGTCCTCCCACCTTGGCCTCCTGAGTAGCTGAGATTATAGATATGAGCCACTGTGCCCAGCCAAGGGCCAAGCTCTTGAAGCCCTTCTGGGAACTCTATCTCTAGCCTCTCATTACTCAGAATCTGTGTGATGTATTCCAGTAACTTCATAAGTTCTGTGAAAAGAAGGTATACTCCAAAGTTTGTAACGGCTTCTCAAAAGTCACTTATCTTAAGT... | TGCTCGAGTGGAAAGGTGTTTTCAGCAGGGTCAGCCTCTTTTTTTGGTAGAGATGGGGTCTCACCATGTTGCCCAGGCTGGTCTTGAACTCCTGGCCTCAACTAGTCCTCCCACCTTGGCCTCCTGAGTAGCTGAGATTATAGATATGAGCCACTGTGCCCAGCCAAGGGCCAAGCTCTTGAAGCCCTTCTGGGAACTCTATCTCTAGCCTCTCATTACTCAGAATCTGTGTGATGTATTCCAGTAACTTCATAAGTTCTGTGAAAAGAAGGTATACTCCAAAGTTTGTAACGGCTTCTCAAAAGTCACTTATCTTAAGT... |
Task1_train_22225 | Here’s a variant in TBC1D24 (TBC1 domain family member 24) located on Chromosome 16. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Caused by mutation in the TBC1 domain family, member 24 | TGCTCGAGTGGAAAGGTGTTTTCAGCAGGGTCAGCCTCTTTTTTTGGTAGAGATGGGGTCTCACCATGTTGCCCAGGCTGGTCTTGAACTCCTGGCCTCAACTAGTCCTCCCACCTTGGCCTCCTGAGTAGCTGAGATTATAGATATGAGCCACTGTGCCCAGCCAAGGGCCAAGCTCTTGAAGCCCTTCTGGGAACTCTATCTCTAGCCTCTCATTACTCAGAATCTGTGTGATGTATTCCAGTAACTTCATAAGTTCTGTGAAAAGAAGGTATACTCCAAAGTTTGTAACGGCTTCTCAAAAGTCACTTATCTTAAGT... | TGCTCGAGTGGAAAGGTGTTTTCAGCAGGGTCAGCCTCTTTTTTTGGTAGAGATGGGGTCTCACCATGTTGCCCAGGCTGGTCTTGAACTCCTGGCCTCAACTAGTCCTCCCACCTTGGCCTCCTGAGTAGCTGAGATTATAGATATGAGCCACTGTGCCCAGCCAAGGGCCAAGCTCTTGAAGCCCTTCTGGGAACTCTATCTCTAGCCTCTCATTACTCAGAATCTGTGTGATGTATTCCAGTAACTTCATAAGTTCTGTGAAAAGAAGGTATACTCCAAAGTTTGTAACGGCTTCTCAAAAGTCACTTATCTTAAGT... |
Task1_train_22226 | Here is a genetic alteration in TBC1D24 (TBC1 domain family member 24) on Chromosome 16. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Caused by mutation in the TBC1 domain family, member 24 | GCCTCAACTAGTCCTCCCACCTTGGCCTCCTGAGTAGCTGAGATTATAGATATGAGCCACTGTGCCCAGCCAAGGGCCAAGCTCTTGAAGCCCTTCTGGGAACTCTATCTCTAGCCTCTCATTACTCAGAATCTGTGTGATGTATTCCAGTAACTTCATAAGTTCTGTGAAAAGAAGGTATACTCCAAAGTTTGTAACGGCTTCTCAAAAGTCACTTATCTTAAGTGGAAGCCCTTCTAATACTTACACAAAGATTAAGGCAAATAATGTGGCTGCGCAACGTGACTCTCACTCGTAATTCCAGCATGGTGGGAAGATCA... | GCCTCAACTAGTCCTCCCACCTTGGCCTCCTGAGTAGCTGAGATTATAGATATGAGCCACTGTGCCCAGCCAAGGGCCAAGCTCTTGAAGCCCTTCTGGGAACTCTATCTCTAGCCTCTCATTACTCAGAATCTGTGTGATGTATTCCAGTAACTTCATAAGTTCTGTGAAAAGAAGGTATACTCCAAAGTTTGTAACGGCTTCTCAAAAGTCACTTATCTTAAGTGGAAGCCCTTCTAATACTTACACAAAGATTAAGGCAAATAATGTGGCTGCGCAACGTGACTCTCACTCGTAATTCCAGCATGGTGGGAAGATCA... |
Task1_train_22227 | Mutation context: Chromosome 16, Gene TBC1D24 (TBC1 domain family member 24). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Developmental and epileptic encephalopathy, 1 | GCCTCAACTAGTCCTCCCACCTTGGCCTCCTGAGTAGCTGAGATTATAGATATGAGCCACTGTGCCCAGCCAAGGGCCAAGCTCTTGAAGCCCTTCTGGGAACTCTATCTCTAGCCTCTCATTACTCAGAATCTGTGTGATGTATTCCAGTAACTTCATAAGTTCTGTGAAAAGAAGGTATACTCCAAAGTTTGTAACGGCTTCTCAAAAGTCACTTATCTTAAGTGGAAGCCCTTCTAATACTTACACAAAGATTAAGGCAAATAATGTGGCTGCGCAACGTGACTCTCACTCGTAATTCCAGCATGGTGGGAAGATCA... | GCCTCAACTAGTCCTCCCACCTTGGCCTCCTGAGTAGCTGAGATTATAGATATGAGCCACTGTGCCCAGCCAAGGGCCAAGCTCTTGAAGCCCTTCTGGGAACTCTATCTCTAGCCTCTCATTACTCAGAATCTGTGTGATGTATTCCAGTAACTTCATAAGTTCTGTGAAAAGAAGGTATACTCCAAAGTTTGTAACGGCTTCTCAAAAGTCACTTATCTTAAGTGGAAGCCCTTCTAATACTTACACAAAGATTAAGGCAAATAATGTGGCTGCGCAACGTGACTCTCACTCGTAATTCCAGCATGGTGGGAAGATCA... |
Task1_train_22228 | This variant impacts the gene TBC1D24 (TBC1 domain family member 24) on Chromosome 16. Is the change likely to result in a pathogenic outcome? | Pathogenic; Autosomal dominant nonsyndromic hearing loss 65 | GCCTCAACTAGTCCTCCCACCTTGGCCTCCTGAGTAGCTGAGATTATAGATATGAGCCACTGTGCCCAGCCAAGGGCCAAGCTCTTGAAGCCCTTCTGGGAACTCTATCTCTAGCCTCTCATTACTCAGAATCTGTGTGATGTATTCCAGTAACTTCATAAGTTCTGTGAAAAGAAGGTATACTCCAAAGTTTGTAACGGCTTCTCAAAAGTCACTTATCTTAAGTGGAAGCCCTTCTAATACTTACACAAAGATTAAGGCAAATAATGTGGCTGCGCAACGTGACTCTCACTCGTAATTCCAGCATGGTGGGAAGATCA... | GCCTCAACTAGTCCTCCCACCTTGGCCTCCTGAGTAGCTGAGATTATAGATATGAGCCACTGTGCCCAGCCAAGGGCCAAGCTCTTGAAGCCCTTCTGGGAACTCTATCTCTAGCCTCTCATTACTCAGAATCTGTGTGATGTATTCCAGTAACTTCATAAGTTCTGTGAAAAGAAGGTATACTCCAAAGTTTGTAACGGCTTCTCAAAAGTCACTTATCTTAAGTGGAAGCCCTTCTAATACTTACACAAAGATTAAGGCAAATAATGTGGCTGCGCAACGTGACTCTCACTCGTAATTCCAGCATGGTGGGAAGATCA... |
Task1_train_22229 | Here is a genetic alteration in TBC1D24 (TBC1 domain family member 24) on Chromosome 16. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Developmental and epileptic encephalopathy, 16 | CTTCATAAGTTCTGTGAAAAGAAGGTATACTCCAAAGTTTGTAACGGCTTCTCAAAAGTCACTTATCTTAAGTGGAAGCCCTTCTAATACTTACACAAAGATTAAGGCAAATAATGTGGCTGCGCAACGTGACTCTCACTCGTAATTCCAGCATGGTGGGAAGATCACTTGAGGCCTGCGGTTCAAGGCCAACCTGGGTGACAGAACAAGACCCCATCACACACACACACACACACACACACACACACAAAATAAATAATAATAATAATAATAAACAAAAAAACAGGCCAGGAGCACTGGCTCACACTTGTAATCCCAGC... | CTTCATAAGTTCTGTGAAAAGAAGGTATACTCCAAAGTTTGTAACGGCTTCTCAAAAGTCACTTATCTTAAGTGGAAGCCCTTCTAATACTTACACAAAGATTAAGGCAAATAATGTGGCTGCGCAACGTGACTCTCACTCGTAATTCCAGCATGGTGGGAAGATCACTTGAGGCCTGCGGTTCAAGGCCAACCTGGGTGACAGAACAAGACCCCATCACACACACACACACACACACACACACACACAAAATAAATAATAATAATAATAATAAACAAAAAAACAGGCCAGGAGCACTGGCTCACACTTGTAATCCCAGC... |
Task1_train_22230 | Here is a variant affecting TBC1D24 (TBC1 domain family member 24) on Chromosome 16. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Developmental and epileptic encephalopathy, 1 | CTTCATAAGTTCTGTGAAAAGAAGGTATACTCCAAAGTTTGTAACGGCTTCTCAAAAGTCACTTATCTTAAGTGGAAGCCCTTCTAATACTTACACAAAGATTAAGGCAAATAATGTGGCTGCGCAACGTGACTCTCACTCGTAATTCCAGCATGGTGGGAAGATCACTTGAGGCCTGCGGTTCAAGGCCAACCTGGGTGACAGAACAAGACCCCATCACACACACACACACACACACACACACACACAAAATAAATAATAATAATAATAATAAACAAAAAAACAGGCCAGGAGCACTGGCTCACACTTGTAATCCCAGC... | CTTCATAAGTTCTGTGAAAAGAAGGTATACTCCAAAGTTTGTAACGGCTTCTCAAAAGTCACTTATCTTAAGTGGAAGCCCTTCTAATACTTACACAAAGATTAAGGCAAATAATGTGGCTGCGCAACGTGACTCTCACTCGTAATTCCAGCATGGTGGGAAGATCACTTGAGGCCTGCGGTTCAAGGCCAACCTGGGTGACAGAACAAGACCCCATCACACACACACACACACACACACACACACACAAAATAAATAATAATAATAATAATAAACAAAAAAACAGGCCAGGAGCACTGGCTCACACTTGTAATCCCAGC... |
Task1_train_22231 | This mutation is located in gene TBC1D24 (TBC1 domain family member 24) on Chromosome 16. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Autosomal dominant nonsyndromic hearing loss 65 | CTTCATAAGTTCTGTGAAAAGAAGGTATACTCCAAAGTTTGTAACGGCTTCTCAAAAGTCACTTATCTTAAGTGGAAGCCCTTCTAATACTTACACAAAGATTAAGGCAAATAATGTGGCTGCGCAACGTGACTCTCACTCGTAATTCCAGCATGGTGGGAAGATCACTTGAGGCCTGCGGTTCAAGGCCAACCTGGGTGACAGAACAAGACCCCATCACACACACACACACACACACACACACACACAAAATAAATAATAATAATAATAATAAACAAAAAAACAGGCCAGGAGCACTGGCTCACACTTGTAATCCCAGC... | CTTCATAAGTTCTGTGAAAAGAAGGTATACTCCAAAGTTTGTAACGGCTTCTCAAAAGTCACTTATCTTAAGTGGAAGCCCTTCTAATACTTACACAAAGATTAAGGCAAATAATGTGGCTGCGCAACGTGACTCTCACTCGTAATTCCAGCATGGTGGGAAGATCACTTGAGGCCTGCGGTTCAAGGCCAACCTGGGTGACAGAACAAGACCCCATCACACACACACACACACACACACACACACACAAAATAAATAATAATAATAATAATAAACAAAAAAACAGGCCAGGAGCACTGGCTCACACTTGTAATCCCAGC... |
Task1_train_22232 | The gene TBC1D24 (TBC1 domain family member 24) on Chromosome 16 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Caused by mutation in the TBC1 domain family, member 24 | CTTCATAAGTTCTGTGAAAAGAAGGTATACTCCAAAGTTTGTAACGGCTTCTCAAAAGTCACTTATCTTAAGTGGAAGCCCTTCTAATACTTACACAAAGATTAAGGCAAATAATGTGGCTGCGCAACGTGACTCTCACTCGTAATTCCAGCATGGTGGGAAGATCACTTGAGGCCTGCGGTTCAAGGCCAACCTGGGTGACAGAACAAGACCCCATCACACACACACACACACACACACACACACACAAAATAAATAATAATAATAATAATAAACAAAAAAACAGGCCAGGAGCACTGGCTCACACTTGTAATCCCAGC... | CTTCATAAGTTCTGTGAAAAGAAGGTATACTCCAAAGTTTGTAACGGCTTCTCAAAAGTCACTTATCTTAAGTGGAAGCCCTTCTAATACTTACACAAAGATTAAGGCAAATAATGTGGCTGCGCAACGTGACTCTCACTCGTAATTCCAGCATGGTGGGAAGATCACTTGAGGCCTGCGGTTCAAGGCCAACCTGGGTGACAGAACAAGACCCCATCACACACACACACACACACACACACACACACAAAATAAATAATAATAATAATAATAAACAAAAAAACAGGCCAGGAGCACTGGCTCACACTTGTAATCCCAGC... |
Task1_train_22233 | This gene mutation involves TBC1D24 (TBC1 domain family member 24) on Chromosome 16. Is it associated with any clinical condition, or is it benign? | Pathogenic; Caused by mutation in the TBC1 domain family, member 24 | TGTAACGGCTTCTCAAAAGTCACTTATCTTAAGTGGAAGCCCTTCTAATACTTACACAAAGATTAAGGCAAATAATGTGGCTGCGCAACGTGACTCTCACTCGTAATTCCAGCATGGTGGGAAGATCACTTGAGGCCTGCGGTTCAAGGCCAACCTGGGTGACAGAACAAGACCCCATCACACACACACACACACACACACACACACACAAAATAAATAATAATAATAATAATAAACAAAAAAACAGGCCAGGAGCACTGGCTCACACTTGTAATCCCAGCACTTTGGGAGGCTGTGGTGGGTGGATTGCTTGAGATCAG... | TGTAACGGCTTCTCAAAAGTCACTTATCTTAAGTGGAAGCCCTTCTAATACTTACACAAAGATTAAGGCAAATAATGTGGCTGCGCAACGTGACTCTCACTCGTAATTCCAGCATGGTGGGAAGATCACTTGAGGCCTGCGGTTCAAGGCCAACCTGGGTGACAGAACAAGACCCCATCACACACACACACACACACACACACACACACAAAATAAATAATAATAATAATAATAAACAAAAAAACAGGCCAGGAGCACTGGCTCACACTTGTAATCCCAGCACTTTGGGAGGCTGTGGTGGGTGGATTGCTTGAGATCAG... |
Task1_train_22234 | This variant impacts the gene TBC1D24 (TBC1 domain family member 24) on Chromosome 16. Is the change likely to result in a pathogenic outcome? | Pathogenic; Autosomal dominant nonsyndromic hearing loss 65 | TGTAACGGCTTCTCAAAAGTCACTTATCTTAAGTGGAAGCCCTTCTAATACTTACACAAAGATTAAGGCAAATAATGTGGCTGCGCAACGTGACTCTCACTCGTAATTCCAGCATGGTGGGAAGATCACTTGAGGCCTGCGGTTCAAGGCCAACCTGGGTGACAGAACAAGACCCCATCACACACACACACACACACACACACACACACAAAATAAATAATAATAATAATAATAAACAAAAAAACAGGCCAGGAGCACTGGCTCACACTTGTAATCCCAGCACTTTGGGAGGCTGTGGTGGGTGGATTGCTTGAGATCAG... | TGTAACGGCTTCTCAAAAGTCACTTATCTTAAGTGGAAGCCCTTCTAATACTTACACAAAGATTAAGGCAAATAATGTGGCTGCGCAACGTGACTCTCACTCGTAATTCCAGCATGGTGGGAAGATCACTTGAGGCCTGCGGTTCAAGGCCAACCTGGGTGACAGAACAAGACCCCATCACACACACACACACACACACACACACACACAAAATAAATAATAATAATAATAATAAACAAAAAAACAGGCCAGGAGCACTGGCTCACACTTGTAATCCCAGCACTTTGGGAGGCTGTGGTGGGTGGATTGCTTGAGATCAG... |
Task1_train_22235 | Here’s a variant in TBC1D24 (TBC1 domain family member 24) located on Chromosome 16. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Developmental and epileptic encephalopathy, 1 | TGTAACGGCTTCTCAAAAGTCACTTATCTTAAGTGGAAGCCCTTCTAATACTTACACAAAGATTAAGGCAAATAATGTGGCTGCGCAACGTGACTCTCACTCGTAATTCCAGCATGGTGGGAAGATCACTTGAGGCCTGCGGTTCAAGGCCAACCTGGGTGACAGAACAAGACCCCATCACACACACACACACACACACACACACACACAAAATAAATAATAATAATAATAATAAACAAAAAAACAGGCCAGGAGCACTGGCTCACACTTGTAATCCCAGCACTTTGGGAGGCTGTGGTGGGTGGATTGCTTGAGATCAG... | TGTAACGGCTTCTCAAAAGTCACTTATCTTAAGTGGAAGCCCTTCTAATACTTACACAAAGATTAAGGCAAATAATGTGGCTGCGCAACGTGACTCTCACTCGTAATTCCAGCATGGTGGGAAGATCACTTGAGGCCTGCGGTTCAAGGCCAACCTGGGTGACAGAACAAGACCCCATCACACACACACACACACACACACACACACACAAAATAAATAATAATAATAATAATAAACAAAAAAACAGGCCAGGAGCACTGGCTCACACTTGTAATCCCAGCACTTTGGGAGGCTGTGGTGGGTGGATTGCTTGAGATCAG... |
Task1_train_22236 | Here’s a variant in TBC1D24 (TBC1 domain family member 24) located on Chromosome 16. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Familial infantile myoclonic epilepsy | TCTTAAGTGGAAGCCCTTCTAATACTTACACAAAGATTAAGGCAAATAATGTGGCTGCGCAACGTGACTCTCACTCGTAATTCCAGCATGGTGGGAAGATCACTTGAGGCCTGCGGTTCAAGGCCAACCTGGGTGACAGAACAAGACCCCATCACACACACACACACACACACACACACACACAAAATAAATAATAATAATAATAATAAACAAAAAAACAGGCCAGGAGCACTGGCTCACACTTGTAATCCCAGCACTTTGGGAGGCTGTGGTGGGTGGATTGCTTGAGATCAGGAGTTTAAGACCAGTCTGGGTAACAT... | TCTTAAGTGGAAGCCCTTCTAATACTTACACAAAGATTAAGGCAAATAATGTGGCTGCGCAACGTGACTCTCACTCGTAATTCCAGCATGGTGGGAAGATCACTTGAGGCCTGCGGTTCAAGGCCAACCTGGGTGACAGAACAAGACCCCATCACACACACACACACACACACACACACACACAAAATAAATAATAATAATAATAATAAACAAAAAAACAGGCCAGGAGCACTGGCTCACACTTGTAATCCCAGCACTTTGGGAGGCTGTGGTGGGTGGATTGCTTGAGATCAGGAGTTTAAGACCAGTCTGGGTAACAT... |
Task1_train_22237 | Consider this mutation in TBC1D24 (TBC1 domain family member 24) on Chromosome 16. Is this a benign change or a disease-causing variant? | Pathogenic; Autosomal recessive nonsyndromic hearing loss 86 | CCTGGGTGACAGAACAAGACCCCATCACACACACACACACACACACACACACACACAAAATAAATAATAATAATAATAATAAACAAAAAAACAGGCCAGGAGCACTGGCTCACACTTGTAATCCCAGCACTTTGGGAGGCTGTGGTGGGTGGATTGCTTGAGATCAGGAGTTTAAGACCAGTCTGGGTAACATGGCAAAATCTCGTCTCTACTAAAAAGAGAAAAAATTAGCTGGGCGTGGTGGCGCCTAACTGTAGTCTCAGCTATAGCTGAGGTGGGAGGATCACCTGAGCCCAGGAGGCAGAAGTTGCAGTGTGCCG... | CCTGGGTGACAGAACAAGACCCCATCACACACACACACACACACACACACACACACAAAATAAATAATAATAATAATAATAAACAAAAAAACAGGCCAGGAGCACTGGCTCACACTTGTAATCCCAGCACTTTGGGAGGCTGTGGTGGGTGGATTGCTTGAGATCAGGAGTTTAAGACCAGTCTGGGTAACATGGCAAAATCTCGTCTCTACTAAAAAGAGAAAAAATTAGCTGGGCGTGGTGGCGCCTAACTGTAGTCTCAGCTATAGCTGAGGTGGGAGGATCACCTGAGCCCAGGAGGCAGAAGTTGCAGTGTGCCG... |
Task1_train_22238 | This sequence variant lies in TBC1D24 (TBC1 domain family member 24) on Chromosome 16. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Developmental and epileptic encephalopathy, 1 | CACACACACACACACAAAATAAATAATAATAATAATAATAAACAAAAAAACAGGCCAGGAGCACTGGCTCACACTTGTAATCCCAGCACTTTGGGAGGCTGTGGTGGGTGGATTGCTTGAGATCAGGAGTTTAAGACCAGTCTGGGTAACATGGCAAAATCTCGTCTCTACTAAAAAGAGAAAAAATTAGCTGGGCGTGGTGGCGCCTAACTGTAGTCTCAGCTATAGCTGAGGTGGGAGGATCACCTGAGCCCAGGAGGCAGAAGTTGCAGTGTGCCGAGATGGTGCCATTGCACTCTAGCCTGGATGTCAGCACAAGA... | CACACACACACACACAAAATAAATAATAATAATAATAATAAACAAAAAAACAGGCCAGGAGCACTGGCTCACACTTGTAATCCCAGCACTTTGGGAGGCTGTGGTGGGTGGATTGCTTGAGATCAGGAGTTTAAGACCAGTCTGGGTAACATGGCAAAATCTCGTCTCTACTAAAAAGAGAAAAAATTAGCTGGGCGTGGTGGCGCCTAACTGTAGTCTCAGCTATAGCTGAGGTGGGAGGATCACCTGAGCCCAGGAGGCAGAAGTTGCAGTGTGCCGAGATGGTGCCATTGCACTCTAGCCTGGATGTCAGCACAAGA... |
Task1_train_22239 | This alteration occurs within gene TBC1D24 (TBC1 domain family member 24) located on Chromosome 16. Is it associated with a disease or is it a benign variant? | Pathogenic; Caused by mutation in the TBC1 domain family, member 24 | CACACACACACACACAAAATAAATAATAATAATAATAATAAACAAAAAAACAGGCCAGGAGCACTGGCTCACACTTGTAATCCCAGCACTTTGGGAGGCTGTGGTGGGTGGATTGCTTGAGATCAGGAGTTTAAGACCAGTCTGGGTAACATGGCAAAATCTCGTCTCTACTAAAAAGAGAAAAAATTAGCTGGGCGTGGTGGCGCCTAACTGTAGTCTCAGCTATAGCTGAGGTGGGAGGATCACCTGAGCCCAGGAGGCAGAAGTTGCAGTGTGCCGAGATGGTGCCATTGCACTCTAGCCTGGATGTCAGCACAAGA... | CACACACACACACACAAAATAAATAATAATAATAATAATAAACAAAAAAACAGGCCAGGAGCACTGGCTCACACTTGTAATCCCAGCACTTTGGGAGGCTGTGGTGGGTGGATTGCTTGAGATCAGGAGTTTAAGACCAGTCTGGGTAACATGGCAAAATCTCGTCTCTACTAAAAAGAGAAAAAATTAGCTGGGCGTGGTGGCGCCTAACTGTAGTCTCAGCTATAGCTGAGGTGGGAGGATCACCTGAGCCCAGGAGGCAGAAGTTGCAGTGTGCCGAGATGGTGCCATTGCACTCTAGCCTGGATGTCAGCACAAGA... |
Task1_train_22240 | Here’s a variant in TBC1D24 (TBC1 domain family member 24) located on Chromosome 16. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Autosomal dominant nonsyndromic hearing loss 65 | CACACACACACACACAAAATAAATAATAATAATAATAATAAACAAAAAAACAGGCCAGGAGCACTGGCTCACACTTGTAATCCCAGCACTTTGGGAGGCTGTGGTGGGTGGATTGCTTGAGATCAGGAGTTTAAGACCAGTCTGGGTAACATGGCAAAATCTCGTCTCTACTAAAAAGAGAAAAAATTAGCTGGGCGTGGTGGCGCCTAACTGTAGTCTCAGCTATAGCTGAGGTGGGAGGATCACCTGAGCCCAGGAGGCAGAAGTTGCAGTGTGCCGAGATGGTGCCATTGCACTCTAGCCTGGATGTCAGCACAAGA... | CACACACACACACACAAAATAAATAATAATAATAATAATAAACAAAAAAACAGGCCAGGAGCACTGGCTCACACTTGTAATCCCAGCACTTTGGGAGGCTGTGGTGGGTGGATTGCTTGAGATCAGGAGTTTAAGACCAGTCTGGGTAACATGGCAAAATCTCGTCTCTACTAAAAAGAGAAAAAATTAGCTGGGCGTGGTGGCGCCTAACTGTAGTCTCAGCTATAGCTGAGGTGGGAGGATCACCTGAGCCCAGGAGGCAGAAGTTGCAGTGTGCCGAGATGGTGCCATTGCACTCTAGCCTGGATGTCAGCACAAGA... |
Task1_train_22241 | The variant affects gene TBC1D24 (TBC1 domain family member 24), which is on Chromosome 16. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; DOORS syndrome | CCAGGACCTGGGGCCCAAGGAGCTGAGCTGCACTGAACTGCAGGAACTGAAGCAGCTGGCGCGCCAGGGCTACTGGGCCCAAAGCCACGCCCTGCGGGGAAAGGTGTACCAGCGCCTGATCCGGGACATTCCCTGCCGCACGGTCACGCCTGACGCCAGCGTGTACAGCGACATCGTGGGCAAGATCGTGGGCAAGCACAGCAGCAGCTGCCTGCCGCTGCCCGAGTTCGTGGACAACACGCAGGTGCCCAGCTACTGCCTGAATGCACGCGGCGAGGGGGCCGTGCGCAAGATCCTCCTGTGCCTGGCCAACCAGTTCC... | CCAGGACCTGGGGCCCAAGGAGCTGAGCTGCACTGAACTGCAGGAACTGAAGCAGCTGGCGCGCCAGGGCTACTGGGCCCAAAGCCACGCCCTGCGGGGAAAGGTGTACCAGCGCCTGATCCGGGACATTCCCTGCCGCACGGTCACGCCTGACGCCAGCGTGTACAGCGACATCGTGGGCAAGATCGTGGGCAAGCACAGCAGCAGCTGCCTGCCGCTGCCCGAGTTCGTGGACAACACGCAGGTGCCCAGCTACTGCCTGAATGCACGCGGCGAGGGGGCCGTGCGCAAGATCCTCCTGTGCCTGGCCAACCAGTTCC... |
Task1_train_22242 | A sequence alteration has been identified in TBC1D24 (TBC1 domain family member 24) on Chromosome 16. Is it disease-inducing or harmless? | Pathogenic; Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome | GCGGGCGGCAGAGCCGCCCAGCCACGTGTCCTGCCCACAGAGGCTGGAAATGGGCCTCAAACCTCGGCACCTGGTGAGGCCCTGCTTCTTCCTGTGGGGCCTAAGAATCAGGGTCCCTTTCTGGGCTCTGTCCTCCCCACACCACCCAGACTTTGGGGGTCATGGCAGGCGTGCCACAGCTTGGGGCCATGCAGGCGTCGTGAAGACGCCTGGGAGGCAGGATCCCCACCTTGGAGCTCACAGCATTGTCTTGGTTGGGGGACCATGTGGGCGGCAGGTCCTGGCTGTGCTCGCTCCCCACCCTGTCATCCACATGGTGC... | GCGGGCGGCAGAGCCGCCCAGCCACGTGTCCTGCCCACAGAGGCTGGAAATGGGCCTCAAACCTCGGCACCTGGTGAGGCCCTGCTTCTTCCTGTGGGGCCTAAGAATCAGGGTCCCTTTCTGGGCTCTGTCCTCCCCACACCACCCAGACTTTGGGGGTCATGGCAGGCGTGCCACAGCTTGGGGCCATGCAGGCGTCGTGAAGACGCCTGGGAGGCAGGATCCCCACCTTGGAGCTCACAGCATTGTCTTGGTTGGGGGACCATGTGGGCGGCAGGTCCTGGCTGTGCTCGCTCCCCACCCTGTCATCCACATGGTGC... |
Task1_train_22243 | This is a variant in ATP6V0C (ATPase H+ transporting V0 subunit c), located on Chromosome 16. Is this mutation a likely cause of disease or not? | Pathogenic; not provided | CCACCTCTGACATATGTAGTCTTCTGCAGGTCAGGCTGTTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTCTGTCAGAGATTCACTCTTGTTGTTTGTTTGAGACGGAGTCTCTCTGTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTTGACTCACTGCAACCTCCACTCCTGGGTTCAGGCGATTCTCCTGCCTCAGCCTCCCTAGTAACTGGGATGACAGGCATGCGCCACCACTCCTGGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTTCACCATGTTACCCAGGCTAATCTCGAACTTCT... | CCACCTCTGACATATGTAGTCTTCTGCAGGTCAGGCTGTTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTCTGTCAGAGATTCACTCTTGTTGTTTGTTTGAGACGGAGTCTCTCTGTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTTGACTCACTGCAACCTCCACTCCTGGGTTCAGGCGATTCTCCTGCCTCAGCCTCCCTAGTAACTGGGATGACAGGCATGCGCCACCACTCCTGGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTTCACCATGTTACCCAGGCTAATCTCGAACTTCT... |
Task1_train_22244 | A variant on Chromosome 16 in gene THOC6 (THO complex subunit 6) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome | CACCCCGTATTCATCCTGCAGACCAGTCCTGAGCACCCAGCCAAAGCTCCTGCGGCCCTTGGTCAGGCCCACCCTGGTCCCCTACACGCACCTGGCGTCCAGGCCCCAAGTCACCCCCAAGGCGGCCCGCGGGAGGCGCTGGGCCCCTCCCTGGGGGCCTCGCTGCAAGGGCTGCTGCAGGATCATTGGGTTTTGGGGTCCTGCGGGTGGGATCTGGGCGACAGGGGAGGAGTCTCTGAGGGCGTGGCCAAGAGAGGATGGGCGTGGCTTTAGGCGGGCACAGCCGCGAGGTTCTGCGCGGGCGCGGAAGACGGGCGGCG... | CACCCCGTATTCATCCTGCAGACCAGTCCTGAGCACCCAGCCAAAGCTCCTGCGGCCCTTGGTCAGGCCCACCCTGGTCCCCTACACGCACCTGGCGTCCAGGCCCCAAGTCACCCCCAAGGCGGCCCGCGGGAGGCGCTGGGCCCCTCCCTGGGGGCCTCGCTGCAAGGGCTGCTGCAGGATCATTGGGTTTTGGGGTCCTGCGGGTGGGATCTGGGCGACAGGGGAGGAGTCTCTGAGGGCGTGGCCAAGAGAGGATGGGCGTGGCTTTAGGCGGGCACAGCCGCGAGGTTCTGCGCGGGCGCGGAAGACGGGCGGCG... |
Task1_train_22245 | This mutation occurs in THOC6 (THO complex subunit 6) on Chromosome 16. Does this change lead to a known medical condition, or is it benign? | Pathogenic; THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome | CAGGCTGGTCTCGAACTCCTGACCTCAGGTAATCTGCCTGCCTTGGCTTCTCAAAGTGCTAGGATTACAGGTGTGAGCCACCACGCCCGGCCAAATTTTTTTTTTTTTTTTTTTTTTGAGATGGAATTTCACTCTTGTTGCCCAAGCTGGAGTGCAGTGGCTCCATCTGGGTTCACCGCAACCTCCGCCTCCCAGATTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGAGATTACAGGCATGCGCCACCACTCCCAGCTAATTTTGCATTTTTAGCAGAGACAGGGTTTCTCCATGTTGGTCAGGCTGGTCTTG... | CAGGCTGGTCTCGAACTCCTGACCTCAGGTAATCTGCCTGCCTTGGCTTCTCAAAGTGCTAGGATTACAGGTGTGAGCCACCACGCCCGGCCAAATTTTTTTTTTTTTTTTTTTTTTGAGATGGAATTTCACTCTTGTTGCCCAAGCTGGAGTGCAGTGGCTCCATCTGGGTTCACCGCAACCTCCGCCTCCCAGATTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGAGATTACAGGCATGCGCCACCACTCCCAGCTAATTTTGCATTTTTAGCAGAGACAGGGTTTCTCCATGTTGGTCAGGCTGGTCTTG... |
Task1_train_22246 | This genomic variant is located on Chromosome 16, within the LOC126862264, MEFV (CDK7 strongly-dependent group 2 enhancer GRCh37_chr16:3293322-3294521| MEFV innate immunity regulator, pyrin) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Acute febrile neutrophilic dermatosis | AATAAAACTCGTGGAGGAAAGCCCAGCAAGTTTACCTGCTCTCATCATAGCCATGGAGTATCTGAGTCTAATCTACACTCTAGTAGTGAAGACAGAGGAGTTGGCATAGGAGTTTGGAATTTAATCTTCATTTGATTTTTTTCTTCTTACATCCACTTTTTGGAGACAGGGACTCACTCTGTTGCCCAGGCTGGATTGCCGTAGTGCAGTCTCAGTTCACTGCTGCAGCCTCGATCTCCTGCGCTCAAGCCATCCTCCCACCCCCATCCCTATGGCTAATTTTTGTATTTTTTGTAGAGACGGGTTTTCGCCACATTGCC... | AATAAAACTCGTGGAGGAAAGCCCAGCAAGTTTACCTGCTCTCATCATAGCCATGGAGTATCTGAGTCTAATCTACACTCTAGTAGTGAAGACAGAGGAGTTGGCATAGGAGTTTGGAATTTAATCTTCATTTGATTTTTTTCTTCTTACATCCACTTTTTGGAGACAGGGACTCACTCTGTTGCCCAGGCTGGATTGCCGTAGTGCAGTCTCAGTTCACTGCTGCAGCCTCGATCTCCTGCGCTCAAGCCATCCTCCCACCCCCATCCCTATGGCTAATTTTTGTATTTTTTGTAGAGACGGGTTTTCGCCACATTGCC... |
Task1_train_22247 | The gene LOC126862264, MEFV (CDK7 strongly-dependent group 2 enhancer GRCh37_chr16:3293322-3294521| MEFV innate immunity regulator, pyrin), on Chromosome 16, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Familial Mediterranean fever | AATAAAACTCGTGGAGGAAAGCCCAGCAAGTTTACCTGCTCTCATCATAGCCATGGAGTATCTGAGTCTAATCTACACTCTAGTAGTGAAGACAGAGGAGTTGGCATAGGAGTTTGGAATTTAATCTTCATTTGATTTTTTTCTTCTTACATCCACTTTTTGGAGACAGGGACTCACTCTGTTGCCCAGGCTGGATTGCCGTAGTGCAGTCTCAGTTCACTGCTGCAGCCTCGATCTCCTGCGCTCAAGCCATCCTCCCACCCCCATCCCTATGGCTAATTTTTGTATTTTTTGTAGAGACGGGTTTTCGCCACATTGCC... | AATAAAACTCGTGGAGGAAAGCCCAGCAAGTTTACCTGCTCTCATCATAGCCATGGAGTATCTGAGTCTAATCTACACTCTAGTAGTGAAGACAGAGGAGTTGGCATAGGAGTTTGGAATTTAATCTTCATTTGATTTTTTTCTTCTTACATCCACTTTTTGGAGACAGGGACTCACTCTGTTGCCCAGGCTGGATTGCCGTAGTGCAGTCTCAGTTCACTGCTGCAGCCTCGATCTCCTGCGCTCAAGCCATCCTCCCACCCCCATCCCTATGGCTAATTTTTGTATTTTTTGTAGAGACGGGTTTTCGCCACATTGCC... |
Task1_train_22248 | An alteration has been detected in LOC126862264, MEFV (CDK7 strongly-dependent group 2 enhancer GRCh37_chr16:3293322-3294521| MEFV innate immunity regulator, pyrin) on Chromosome 16. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Familial Mediterranean fever, autosomal dominant | AATAAAACTCGTGGAGGAAAGCCCAGCAAGTTTACCTGCTCTCATCATAGCCATGGAGTATCTGAGTCTAATCTACACTCTAGTAGTGAAGACAGAGGAGTTGGCATAGGAGTTTGGAATTTAATCTTCATTTGATTTTTTTCTTCTTACATCCACTTTTTGGAGACAGGGACTCACTCTGTTGCCCAGGCTGGATTGCCGTAGTGCAGTCTCAGTTCACTGCTGCAGCCTCGATCTCCTGCGCTCAAGCCATCCTCCCACCCCCATCCCTATGGCTAATTTTTGTATTTTTTGTAGAGACGGGTTTTCGCCACATTGCC... | AATAAAACTCGTGGAGGAAAGCCCAGCAAGTTTACCTGCTCTCATCATAGCCATGGAGTATCTGAGTCTAATCTACACTCTAGTAGTGAAGACAGAGGAGTTGGCATAGGAGTTTGGAATTTAATCTTCATTTGATTTTTTTCTTCTTACATCCACTTTTTGGAGACAGGGACTCACTCTGTTGCCCAGGCTGGATTGCCGTAGTGCAGTCTCAGTTCACTGCTGCAGCCTCGATCTCCTGCGCTCAAGCCATCCTCCCACCCCCATCCCTATGGCTAATTTTTGTATTTTTTGTAGAGACGGGTTTTCGCCACATTGCC... |
Task1_train_22249 | The following genetic variant occurs in LOC126862264, MEFV (CDK7 strongly-dependent group 2 enhancer GRCh37_chr16:3293322-3294521| MEFV innate immunity regulator, pyrin) on Chromosome 16. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Inborn genetic diseases | AATAAAACTCGTGGAGGAAAGCCCAGCAAGTTTACCTGCTCTCATCATAGCCATGGAGTATCTGAGTCTAATCTACACTCTAGTAGTGAAGACAGAGGAGTTGGCATAGGAGTTTGGAATTTAATCTTCATTTGATTTTTTTCTTCTTACATCCACTTTTTGGAGACAGGGACTCACTCTGTTGCCCAGGCTGGATTGCCGTAGTGCAGTCTCAGTTCACTGCTGCAGCCTCGATCTCCTGCGCTCAAGCCATCCTCCCACCCCCATCCCTATGGCTAATTTTTGTATTTTTTGTAGAGACGGGTTTTCGCCACATTGCC... | AATAAAACTCGTGGAGGAAAGCCCAGCAAGTTTACCTGCTCTCATCATAGCCATGGAGTATCTGAGTCTAATCTACACTCTAGTAGTGAAGACAGAGGAGTTGGCATAGGAGTTTGGAATTTAATCTTCATTTGATTTTTTTCTTCTTACATCCACTTTTTGGAGACAGGGACTCACTCTGTTGCCCAGGCTGGATTGCCGTAGTGCAGTCTCAGTTCACTGCTGCAGCCTCGATCTCCTGCGCTCAAGCCATCCTCCCACCCCCATCCCTATGGCTAATTTTTGTATTTTTTGTAGAGACGGGTTTTCGCCACATTGCC... |
Task1_train_22250 | Given this variant in gene LOC126862264, MEFV (CDK7 strongly-dependent group 2 enhancer GRCh37_chr16:3293322-3294521| MEFV innate immunity regulator, pyrin) on Chromosome 16, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Autoinflammatory syndrome | AATAAAACTCGTGGAGGAAAGCCCAGCAAGTTTACCTGCTCTCATCATAGCCATGGAGTATCTGAGTCTAATCTACACTCTAGTAGTGAAGACAGAGGAGTTGGCATAGGAGTTTGGAATTTAATCTTCATTTGATTTTTTTCTTCTTACATCCACTTTTTGGAGACAGGGACTCACTCTGTTGCCCAGGCTGGATTGCCGTAGTGCAGTCTCAGTTCACTGCTGCAGCCTCGATCTCCTGCGCTCAAGCCATCCTCCCACCCCCATCCCTATGGCTAATTTTTGTATTTTTTGTAGAGACGGGTTTTCGCCACATTGCC... | AATAAAACTCGTGGAGGAAAGCCCAGCAAGTTTACCTGCTCTCATCATAGCCATGGAGTATCTGAGTCTAATCTACACTCTAGTAGTGAAGACAGAGGAGTTGGCATAGGAGTTTGGAATTTAATCTTCATTTGATTTTTTTCTTCTTACATCCACTTTTTGGAGACAGGGACTCACTCTGTTGCCCAGGCTGGATTGCCGTAGTGCAGTCTCAGTTCACTGCTGCAGCCTCGATCTCCTGCGCTCAAGCCATCCTCCCACCCCCATCCCTATGGCTAATTTTTGTATTTTTTGTAGAGACGGGTTTTCGCCACATTGCC... |
Task1_train_22251 | A mutation on Chromosome 16 affecting LOC126862264, MEFV (CDK7 strongly-dependent group 2 enhancer GRCh37_chr16:3293322-3294521| MEFV innate immunity regulator, pyrin) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Familial Mediterranean fever | AATAAAACTCGTGGAGGAAAGCCCAGCAAGTTTACCTGCTCTCATCATAGCCATGGAGTATCTGAGTCTAATCTACACTCTAGTAGTGAAGACAGAGGAGTTGGCATAGGAGTTTGGAATTTAATCTTCATTTGATTTTTTTCTTCTTACATCCACTTTTTGGAGACAGGGACTCACTCTGTTGCCCAGGCTGGATTGCCGTAGTGCAGTCTCAGTTCACTGCTGCAGCCTCGATCTCCTGCGCTCAAGCCATCCTCCCACCCCCATCCCTATGGCTAATTTTTGTATTTTTTGTAGAGACGGGTTTTCGCCACATTGCC... | AATAAAACTCGTGGAGGAAAGCCCAGCAAGTTTACCTGCTCTCATCATAGCCATGGAGTATCTGAGTCTAATCTACACTCTAGTAGTGAAGACAGAGGAGTTGGCATAGGAGTTTGGAATTTAATCTTCATTTGATTTTTTTCTTCTTACATCCACTTTTTGGAGACAGGGACTCACTCTGTTGCCCAGGCTGGATTGCCGTAGTGCAGTCTCAGTTCACTGCTGCAGCCTCGATCTCCTGCGCTCAAGCCATCCTCCCACCCCCATCCCTATGGCTAATTTTTGTATTTTTTGTAGAGACGGGTTTTCGCCACATTGCC... |
Task1_train_22252 | Chromosome 16 houses a mutation in gene LOC126862264, MEFV (CDK7 strongly-dependent group 2 enhancer GRCh37_chr16:3293322-3294521| MEFV innate immunity regulator, pyrin). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Familial Mediterranean fever, autosomal dominant | AATAAAACTCGTGGAGGAAAGCCCAGCAAGTTTACCTGCTCTCATCATAGCCATGGAGTATCTGAGTCTAATCTACACTCTAGTAGTGAAGACAGAGGAGTTGGCATAGGAGTTTGGAATTTAATCTTCATTTGATTTTTTTCTTCTTACATCCACTTTTTGGAGACAGGGACTCACTCTGTTGCCCAGGCTGGATTGCCGTAGTGCAGTCTCAGTTCACTGCTGCAGCCTCGATCTCCTGCGCTCAAGCCATCCTCCCACCCCCATCCCTATGGCTAATTTTTGTATTTTTTGTAGAGACGGGTTTTCGCCACATTGCC... | AATAAAACTCGTGGAGGAAAGCCCAGCAAGTTTACCTGCTCTCATCATAGCCATGGAGTATCTGAGTCTAATCTACACTCTAGTAGTGAAGACAGAGGAGTTGGCATAGGAGTTTGGAATTTAATCTTCATTTGATTTTTTTCTTCTTACATCCACTTTTTGGAGACAGGGACTCACTCTGTTGCCCAGGCTGGATTGCCGTAGTGCAGTCTCAGTTCACTGCTGCAGCCTCGATCTCCTGCGCTCAAGCCATCCTCCCACCCCCATCCCTATGGCTAATTTTTGTATTTTTTGTAGAGACGGGTTTTCGCCACATTGCC... |
Task1_train_22253 | This variant affects the gene LOC126862264, MEFV (CDK7 strongly-dependent group 2 enhancer GRCh37_chr16:3293322-3294521| MEFV innate immunity regulator, pyrin) found on Chromosome 16. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; See cases | AATAAAACTCGTGGAGGAAAGCCCAGCAAGTTTACCTGCTCTCATCATAGCCATGGAGTATCTGAGTCTAATCTACACTCTAGTAGTGAAGACAGAGGAGTTGGCATAGGAGTTTGGAATTTAATCTTCATTTGATTTTTTTCTTCTTACATCCACTTTTTGGAGACAGGGACTCACTCTGTTGCCCAGGCTGGATTGCCGTAGTGCAGTCTCAGTTCACTGCTGCAGCCTCGATCTCCTGCGCTCAAGCCATCCTCCCACCCCCATCCCTATGGCTAATTTTTGTATTTTTTGTAGAGACGGGTTTTCGCCACATTGCC... | AATAAAACTCGTGGAGGAAAGCCCAGCAAGTTTACCTGCTCTCATCATAGCCATGGAGTATCTGAGTCTAATCTACACTCTAGTAGTGAAGACAGAGGAGTTGGCATAGGAGTTTGGAATTTAATCTTCATTTGATTTTTTTCTTCTTACATCCACTTTTTGGAGACAGGGACTCACTCTGTTGCCCAGGCTGGATTGCCGTAGTGCAGTCTCAGTTCACTGCTGCAGCCTCGATCTCCTGCGCTCAAGCCATCCTCCCACCCCCATCCCTATGGCTAATTTTTGTATTTTTTGTAGAGACGGGTTTTCGCCACATTGCC... |
Task1_train_22254 | This variant lies on Chromosome 16 and affects the gene LOC126862264, MEFV (CDK7 strongly-dependent group 2 enhancer GRCh37_chr16:3293322-3294521| MEFV innate immunity regulator, pyrin). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Acute febrile neutrophilic dermatosis | AATAAAACTCGTGGAGGAAAGCCCAGCAAGTTTACCTGCTCTCATCATAGCCATGGAGTATCTGAGTCTAATCTACACTCTAGTAGTGAAGACAGAGGAGTTGGCATAGGAGTTTGGAATTTAATCTTCATTTGATTTTTTTCTTCTTACATCCACTTTTTGGAGACAGGGACTCACTCTGTTGCCCAGGCTGGATTGCCGTAGTGCAGTCTCAGTTCACTGCTGCAGCCTCGATCTCCTGCGCTCAAGCCATCCTCCCACCCCCATCCCTATGGCTAATTTTTGTATTTTTTGTAGAGACGGGTTTTCGCCACATTGCC... | AATAAAACTCGTGGAGGAAAGCCCAGCAAGTTTACCTGCTCTCATCATAGCCATGGAGTATCTGAGTCTAATCTACACTCTAGTAGTGAAGACAGAGGAGTTGGCATAGGAGTTTGGAATTTAATCTTCATTTGATTTTTTTCTTCTTACATCCACTTTTTGGAGACAGGGACTCACTCTGTTGCCCAGGCTGGATTGCCGTAGTGCAGTCTCAGTTCACTGCTGCAGCCTCGATCTCCTGCGCTCAAGCCATCCTCCCACCCCCATCCCTATGGCTAATTTTTGTATTTTTTGTAGAGACGGGTTTTCGCCACATTGCC... |
Task1_train_22255 | This variant lies on Chromosome 16 and affects the gene LOC126862264, MEFV (CDK7 strongly-dependent group 2 enhancer GRCh37_chr16:3293322-3294521| MEFV innate immunity regulator, pyrin). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Familial Mediterranean fever | AATAAAACTCGTGGAGGAAAGCCCAGCAAGTTTACCTGCTCTCATCATAGCCATGGAGTATCTGAGTCTAATCTACACTCTAGTAGTGAAGACAGAGGAGTTGGCATAGGAGTTTGGAATTTAATCTTCATTTGATTTTTTTCTTCTTACATCCACTTTTTGGAGACAGGGACTCACTCTGTTGCCCAGGCTGGATTGCCGTAGTGCAGTCTCAGTTCACTGCTGCAGCCTCGATCTCCTGCGCTCAAGCCATCCTCCCACCCCCATCCCTATGGCTAATTTTTGTATTTTTTGTAGAGACGGGTTTTCGCCACATTGCC... | AATAAAACTCGTGGAGGAAAGCCCAGCAAGTTTACCTGCTCTCATCATAGCCATGGAGTATCTGAGTCTAATCTACACTCTAGTAGTGAAGACAGAGGAGTTGGCATAGGAGTTTGGAATTTAATCTTCATTTGATTTTTTTCTTCTTACATCCACTTTTTGGAGACAGGGACTCACTCTGTTGCCCAGGCTGGATTGCCGTAGTGCAGTCTCAGTTCACTGCTGCAGCCTCGATCTCCTGCGCTCAAGCCATCCTCCCACCCCCATCCCTATGGCTAATTTTTGTATTTTTTGTAGAGACGGGTTTTCGCCACATTGCC... |
Task1_train_22256 | This alteration occurs within gene LOC126862264, MEFV (CDK7 strongly-dependent group 2 enhancer GRCh37_chr16:3293322-3294521| MEFV innate immunity regulator, pyrin) located on Chromosome 16. Is it associated with a disease or is it a benign variant? | Pathogenic; Autoinflammatory syndrome | AATAAAACTCGTGGAGGAAAGCCCAGCAAGTTTACCTGCTCTCATCATAGCCATGGAGTATCTGAGTCTAATCTACACTCTAGTAGTGAAGACAGAGGAGTTGGCATAGGAGTTTGGAATTTAATCTTCATTTGATTTTTTTCTTCTTACATCCACTTTTTGGAGACAGGGACTCACTCTGTTGCCCAGGCTGGATTGCCGTAGTGCAGTCTCAGTTCACTGCTGCAGCCTCGATCTCCTGCGCTCAAGCCATCCTCCCACCCCCATCCCTATGGCTAATTTTTGTATTTTTTGTAGAGACGGGTTTTCGCCACATTGCC... | AATAAAACTCGTGGAGGAAAGCCCAGCAAGTTTACCTGCTCTCATCATAGCCATGGAGTATCTGAGTCTAATCTACACTCTAGTAGTGAAGACAGAGGAGTTGGCATAGGAGTTTGGAATTTAATCTTCATTTGATTTTTTTCTTCTTACATCCACTTTTTGGAGACAGGGACTCACTCTGTTGCCCAGGCTGGATTGCCGTAGTGCAGTCTCAGTTCACTGCTGCAGCCTCGATCTCCTGCGCTCAAGCCATCCTCCCACCCCCATCCCTATGGCTAATTTTTGTATTTTTTGTAGAGACGGGTTTTCGCCACATTGCC... |
Task1_train_22257 | A mutation on Chromosome 16 affecting LOC126862264, MEFV (CDK7 strongly-dependent group 2 enhancer GRCh37_chr16:3293322-3294521| MEFV innate immunity regulator, pyrin) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Familial Mediterranean fever, autosomal dominant | AATAAAACTCGTGGAGGAAAGCCCAGCAAGTTTACCTGCTCTCATCATAGCCATGGAGTATCTGAGTCTAATCTACACTCTAGTAGTGAAGACAGAGGAGTTGGCATAGGAGTTTGGAATTTAATCTTCATTTGATTTTTTTCTTCTTACATCCACTTTTTGGAGACAGGGACTCACTCTGTTGCCCAGGCTGGATTGCCGTAGTGCAGTCTCAGTTCACTGCTGCAGCCTCGATCTCCTGCGCTCAAGCCATCCTCCCACCCCCATCCCTATGGCTAATTTTTGTATTTTTTGTAGAGACGGGTTTTCGCCACATTGCC... | AATAAAACTCGTGGAGGAAAGCCCAGCAAGTTTACCTGCTCTCATCATAGCCATGGAGTATCTGAGTCTAATCTACACTCTAGTAGTGAAGACAGAGGAGTTGGCATAGGAGTTTGGAATTTAATCTTCATTTGATTTTTTTCTTCTTACATCCACTTTTTGGAGACAGGGACTCACTCTGTTGCCCAGGCTGGATTGCCGTAGTGCAGTCTCAGTTCACTGCTGCAGCCTCGATCTCCTGCGCTCAAGCCATCCTCCCACCCCCATCCCTATGGCTAATTTTTGTATTTTTTGTAGAGACGGGTTTTCGCCACATTGCC... |
Task1_train_22258 | A mutation on Chromosome 16 affecting LOC126862264, MEFV (CDK7 strongly-dependent group 2 enhancer GRCh37_chr16:3293322-3294521| MEFV innate immunity regulator, pyrin) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Acute febrile neutrophilic dermatosis | AATAAAACTCGTGGAGGAAAGCCCAGCAAGTTTACCTGCTCTCATCATAGCCATGGAGTATCTGAGTCTAATCTACACTCTAGTAGTGAAGACAGAGGAGTTGGCATAGGAGTTTGGAATTTAATCTTCATTTGATTTTTTTCTTCTTACATCCACTTTTTGGAGACAGGGACTCACTCTGTTGCCCAGGCTGGATTGCCGTAGTGCAGTCTCAGTTCACTGCTGCAGCCTCGATCTCCTGCGCTCAAGCCATCCTCCCACCCCCATCCCTATGGCTAATTTTTGTATTTTTTGTAGAGACGGGTTTTCGCCACATTGCC... | AATAAAACTCGTGGAGGAAAGCCCAGCAAGTTTACCTGCTCTCATCATAGCCATGGAGTATCTGAGTCTAATCTACACTCTAGTAGTGAAGACAGAGGAGTTGGCATAGGAGTTTGGAATTTAATCTTCATTTGATTTTTTTCTTCTTACATCCACTTTTTGGAGACAGGGACTCACTCTGTTGCCCAGGCTGGATTGCCGTAGTGCAGTCTCAGTTCACTGCTGCAGCCTCGATCTCCTGCGCTCAAGCCATCCTCCCACCCCCATCCCTATGGCTAATTTTTGTATTTTTTGTAGAGACGGGTTTTCGCCACATTGCC... |
Task1_train_22259 | A variant has been detected on Chromosome 16 in LOC126862264, MEFV (CDK7 strongly-dependent group 2 enhancer GRCh37_chr16:3293322-3294521| MEFV innate immunity regulator, pyrin). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Familial Mediterranean fever | AATAAAACTCGTGGAGGAAAGCCCAGCAAGTTTACCTGCTCTCATCATAGCCATGGAGTATCTGAGTCTAATCTACACTCTAGTAGTGAAGACAGAGGAGTTGGCATAGGAGTTTGGAATTTAATCTTCATTTGATTTTTTTCTTCTTACATCCACTTTTTGGAGACAGGGACTCACTCTGTTGCCCAGGCTGGATTGCCGTAGTGCAGTCTCAGTTCACTGCTGCAGCCTCGATCTCCTGCGCTCAAGCCATCCTCCCACCCCCATCCCTATGGCTAATTTTTGTATTTTTTGTAGAGACGGGTTTTCGCCACATTGCC... | AATAAAACTCGTGGAGGAAAGCCCAGCAAGTTTACCTGCTCTCATCATAGCCATGGAGTATCTGAGTCTAATCTACACTCTAGTAGTGAAGACAGAGGAGTTGGCATAGGAGTTTGGAATTTAATCTTCATTTGATTTTTTTCTTCTTACATCCACTTTTTGGAGACAGGGACTCACTCTGTTGCCCAGGCTGGATTGCCGTAGTGCAGTCTCAGTTCACTGCTGCAGCCTCGATCTCCTGCGCTCAAGCCATCCTCCCACCCCCATCCCTATGGCTAATTTTTGTATTTTTTGTAGAGACGGGTTTTCGCCACATTGCC... |
Task1_train_22260 | Here is a genetic alteration in LOC126862264, MEFV (CDK7 strongly-dependent group 2 enhancer GRCh37_chr16:3293322-3294521| MEFV innate immunity regulator, pyrin) on Chromosome 16. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Familial Mediterranean fever, autosomal dominant | AATAAAACTCGTGGAGGAAAGCCCAGCAAGTTTACCTGCTCTCATCATAGCCATGGAGTATCTGAGTCTAATCTACACTCTAGTAGTGAAGACAGAGGAGTTGGCATAGGAGTTTGGAATTTAATCTTCATTTGATTTTTTTCTTCTTACATCCACTTTTTGGAGACAGGGACTCACTCTGTTGCCCAGGCTGGATTGCCGTAGTGCAGTCTCAGTTCACTGCTGCAGCCTCGATCTCCTGCGCTCAAGCCATCCTCCCACCCCCATCCCTATGGCTAATTTTTGTATTTTTTGTAGAGACGGGTTTTCGCCACATTGCC... | AATAAAACTCGTGGAGGAAAGCCCAGCAAGTTTACCTGCTCTCATCATAGCCATGGAGTATCTGAGTCTAATCTACACTCTAGTAGTGAAGACAGAGGAGTTGGCATAGGAGTTTGGAATTTAATCTTCATTTGATTTTTTTCTTCTTACATCCACTTTTTGGAGACAGGGACTCACTCTGTTGCCCAGGCTGGATTGCCGTAGTGCAGTCTCAGTTCACTGCTGCAGCCTCGATCTCCTGCGCTCAAGCCATCCTCCCACCCCCATCCCTATGGCTAATTTTTGTATTTTTTGTAGAGACGGGTTTTCGCCACATTGCC... |
Task1_train_22261 | Consider a variant on Chromosome 16 in gene MEFV (MEFV innate immunity regulator, pyrin). Determine its clinical classification and disease relevance. | Pathogenic; Acute febrile neutrophilic dermatosis | TGAGACAGAGTTTTGCTCTTGTCGCCCAGGCTAGAGTGCAGTGGCATGATCTTGGCTCACTGCAACCTCTGCCTCCTCGGTTCAAGCAATTCTCCTGCCTCGAAGCCTTCTGAGTAGCTGGGATTATGGACACCCGCCACCACGCCCAGCAAATTTAGTATTTTTAGTAGAGATGGCGTTTCACCATGTTGGCAGGCTGGTCTCGAACTCCTCACCTCAGGTGATCCGCCCCCATTGGCCTCCCAAAGTGCTGGGATTACAGGTATGAGCCACCGCACCCGGCCTGGACCCCCAATTCTATTTCTCCTCCTTGAGTGCTG... | TGAGACAGAGTTTTGCTCTTGTCGCCCAGGCTAGAGTGCAGTGGCATGATCTTGGCTCACTGCAACCTCTGCCTCCTCGGTTCAAGCAATTCTCCTGCCTCGAAGCCTTCTGAGTAGCTGGGATTATGGACACCCGCCACCACGCCCAGCAAATTTAGTATTTTTAGTAGAGATGGCGTTTCACCATGTTGGCAGGCTGGTCTCGAACTCCTCACCTCAGGTGATCCGCCCCCATTGGCCTCCCAAAGTGCTGGGATTACAGGTATGAGCCACCGCACCCGGCCTGGACCCCCAATTCTATTTCTCCTCCTTGAGTGCTG... |
Task1_train_22262 | This variant lies on Chromosome 16 and affects the gene MEFV (MEFV innate immunity regulator, pyrin). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Familial Mediterranean fever, autosomal dominant | ACAGAGTTTTGCTCTTGTCGCCCAGGCTAGAGTGCAGTGGCATGATCTTGGCTCACTGCAACCTCTGCCTCCTCGGTTCAAGCAATTCTCCTGCCTCGAAGCCTTCTGAGTAGCTGGGATTATGGACACCCGCCACCACGCCCAGCAAATTTAGTATTTTTAGTAGAGATGGCGTTTCACCATGTTGGCAGGCTGGTCTCGAACTCCTCACCTCAGGTGATCCGCCCCCATTGGCCTCCCAAAGTGCTGGGATTACAGGTATGAGCCACCGCACCCGGCCTGGACCCCCAATTCTATTTCTCCTCCTTGAGTGCTGTGAT... | ACAGAGTTTTGCTCTTGTCGCCCAGGCTAGAGTGCAGTGGCATGATCTTGGCTCACTGCAACCTCTGCCTCCTCGGTTCAAGCAATTCTCCTGCCTCGAAGCCTTCTGAGTAGCTGGGATTATGGACACCCGCCACCACGCCCAGCAAATTTAGTATTTTTAGTAGAGATGGCGTTTCACCATGTTGGCAGGCTGGTCTCGAACTCCTCACCTCAGGTGATCCGCCCCCATTGGCCTCCCAAAGTGCTGGGATTACAGGTATGAGCCACCGCACCCGGCCTGGACCCCCAATTCTATTTCTCCTCCTTGAGTGCTGTGAT... |
Task1_train_22263 | The gene MEFV (MEFV innate immunity regulator, pyrin) on Chromosome 16 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Familial Mediterranean fever | ACAGAGTTTTGCTCTTGTCGCCCAGGCTAGAGTGCAGTGGCATGATCTTGGCTCACTGCAACCTCTGCCTCCTCGGTTCAAGCAATTCTCCTGCCTCGAAGCCTTCTGAGTAGCTGGGATTATGGACACCCGCCACCACGCCCAGCAAATTTAGTATTTTTAGTAGAGATGGCGTTTCACCATGTTGGCAGGCTGGTCTCGAACTCCTCACCTCAGGTGATCCGCCCCCATTGGCCTCCCAAAGTGCTGGGATTACAGGTATGAGCCACCGCACCCGGCCTGGACCCCCAATTCTATTTCTCCTCCTTGAGTGCTGTGAT... | ACAGAGTTTTGCTCTTGTCGCCCAGGCTAGAGTGCAGTGGCATGATCTTGGCTCACTGCAACCTCTGCCTCCTCGGTTCAAGCAATTCTCCTGCCTCGAAGCCTTCTGAGTAGCTGGGATTATGGACACCCGCCACCACGCCCAGCAAATTTAGTATTTTTAGTAGAGATGGCGTTTCACCATGTTGGCAGGCTGGTCTCGAACTCCTCACCTCAGGTGATCCGCCCCCATTGGCCTCCCAAAGTGCTGGGATTACAGGTATGAGCCACCGCACCCGGCCTGGACCCCCAATTCTATTTCTCCTCCTTGAGTGCTGTGAT... |
Task1_train_22264 | Here is a genetic alteration in MEFV (MEFV innate immunity regulator, pyrin) on Chromosome 16. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Familial Mediterranean fever, autosomal dominant | ACAGAGTTTTGCTCTTGTCGCCCAGGCTAGAGTGCAGTGGCATGATCTTGGCTCACTGCAACCTCTGCCTCCTCGGTTCAAGCAATTCTCCTGCCTCGAAGCCTTCTGAGTAGCTGGGATTATGGACACCCGCCACCACGCCCAGCAAATTTAGTATTTTTAGTAGAGATGGCGTTTCACCATGTTGGCAGGCTGGTCTCGAACTCCTCACCTCAGGTGATCCGCCCCCATTGGCCTCCCAAAGTGCTGGGATTACAGGTATGAGCCACCGCACCCGGCCTGGACCCCCAATTCTATTTCTCCTCCTTGAGTGCTGTGAT... | ACAGAGTTTTGCTCTTGTCGCCCAGGCTAGAGTGCAGTGGCATGATCTTGGCTCACTGCAACCTCTGCCTCCTCGGTTCAAGCAATTCTCCTGCCTCGAAGCCTTCTGAGTAGCTGGGATTATGGACACCCGCCACCACGCCCAGCAAATTTAGTATTTTTAGTAGAGATGGCGTTTCACCATGTTGGCAGGCTGGTCTCGAACTCCTCACCTCAGGTGATCCGCCCCCATTGGCCTCCCAAAGTGCTGGGATTACAGGTATGAGCCACCGCACCCGGCCTGGACCCCCAATTCTATTTCTCCTCCTTGAGTGCTGTGAT... |
Task1_train_22265 | Here is a genetic alteration in MEFV (MEFV innate immunity regulator, pyrin) on Chromosome 16. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Acute febrile neutrophilic dermatosis | ACAGAGTTTTGCTCTTGTCGCCCAGGCTAGAGTGCAGTGGCATGATCTTGGCTCACTGCAACCTCTGCCTCCTCGGTTCAAGCAATTCTCCTGCCTCGAAGCCTTCTGAGTAGCTGGGATTATGGACACCCGCCACCACGCCCAGCAAATTTAGTATTTTTAGTAGAGATGGCGTTTCACCATGTTGGCAGGCTGGTCTCGAACTCCTCACCTCAGGTGATCCGCCCCCATTGGCCTCCCAAAGTGCTGGGATTACAGGTATGAGCCACCGCACCCGGCCTGGACCCCCAATTCTATTTCTCCTCCTTGAGTGCTGTGAT... | ACAGAGTTTTGCTCTTGTCGCCCAGGCTAGAGTGCAGTGGCATGATCTTGGCTCACTGCAACCTCTGCCTCCTCGGTTCAAGCAATTCTCCTGCCTCGAAGCCTTCTGAGTAGCTGGGATTATGGACACCCGCCACCACGCCCAGCAAATTTAGTATTTTTAGTAGAGATGGCGTTTCACCATGTTGGCAGGCTGGTCTCGAACTCCTCACCTCAGGTGATCCGCCCCCATTGGCCTCCCAAAGTGCTGGGATTACAGGTATGAGCCACCGCACCCGGCCTGGACCCCCAATTCTATTTCTCCTCCTTGAGTGCTGTGAT... |
Task1_train_22266 | This alteration occurs within gene MEFV (MEFV innate immunity regulator, pyrin) located on Chromosome 16. Is it associated with a disease or is it a benign variant? | Pathogenic; Neuronal ceroid lipofuscinosis | ACAGAGTTTTGCTCTTGTCGCCCAGGCTAGAGTGCAGTGGCATGATCTTGGCTCACTGCAACCTCTGCCTCCTCGGTTCAAGCAATTCTCCTGCCTCGAAGCCTTCTGAGTAGCTGGGATTATGGACACCCGCCACCACGCCCAGCAAATTTAGTATTTTTAGTAGAGATGGCGTTTCACCATGTTGGCAGGCTGGTCTCGAACTCCTCACCTCAGGTGATCCGCCCCCATTGGCCTCCCAAAGTGCTGGGATTACAGGTATGAGCCACCGCACCCGGCCTGGACCCCCAATTCTATTTCTCCTCCTTGAGTGCTGTGAT... | ACAGAGTTTTGCTCTTGTCGCCCAGGCTAGAGTGCAGTGGCATGATCTTGGCTCACTGCAACCTCTGCCTCCTCGGTTCAAGCAATTCTCCTGCCTCGAAGCCTTCTGAGTAGCTGGGATTATGGACACCCGCCACCACGCCCAGCAAATTTAGTATTTTTAGTAGAGATGGCGTTTCACCATGTTGGCAGGCTGGTCTCGAACTCCTCACCTCAGGTGATCCGCCCCCATTGGCCTCCCAAAGTGCTGGGATTACAGGTATGAGCCACCGCACCCGGCCTGGACCCCCAATTCTATTTCTCCTCCTTGAGTGCTGTGAT... |
Task1_train_22267 | This is a variant in MEFV (MEFV innate immunity regulator, pyrin), located on Chromosome 16. Is this mutation a likely cause of disease or not? | Pathogenic; Behcet disease | TAGCACTTTTAGAGGCTAAGGCGGGGGATCGCTTGAGCCCAAGAGTTCAAAACCAGCCTGGGCAACATAGACAGTCCTCGTAACTACAAAAAATACAAAAAAAAAAAAAAAAATTAACCAGGTGTGGTGGTGAGCACCTATAGTCTCAGCTACTTGGAAGGCTGAGGTGGGAGGATCGCTTGAGCCTAGGAGGTTGAGGCTGCAGTAAACTGTGCTCACACTACTGCACTCCAGCATGGGAGACAGACTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGGAAAGTGTGTTTCTGAATGCTGCCCCCACCACG... | TAGCACTTTTAGAGGCTAAGGCGGGGGATCGCTTGAGCCCAAGAGTTCAAAACCAGCCTGGGCAACATAGACAGTCCTCGTAACTACAAAAAATACAAAAAAAAAAAAAAAAATTAACCAGGTGTGGTGGTGAGCACCTATAGTCTCAGCTACTTGGAAGGCTGAGGTGGGAGGATCGCTTGAGCCTAGGAGGTTGAGGCTGCAGTAAACTGTGCTCACACTACTGCACTCCAGCATGGGAGACAGACTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGGAAAGTGTGTTTCTGAATGCTGCCCCCACCACG... |
Task1_train_22268 | This genomic variant is located on Chromosome 16, within the CLUAP1 (clusterin associated protein 1) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Leber congenital amaurosis | TCCTTGACACATTCCACTTTTAAAGCATCAATTCATTTTTGTTAAGCTCCAAATCATTTTAACAGAAAAGTCTCTTTGTTTTGCTCTAGTTCAAAAGATTATAATTATTTCTGAGTTTATCTGCTTATATTTTTAAAAGAGTAGAATTTTCCCTTTAAGGTCAATAATAAGAAAAAAGAAAAAGTTCAGCAAACCAGTATAGATTTTTATGGTTTTTTTTGTTTTTGTTTTTTTTTTTTGAGTTGGAGTTTCGCTCTTGTTGCCGAGGCTGGAGTGCAATGGCGCGATCCCGGCTCACTGCAAACTCTGCCTCCCGGATT... | TCCTTGACACATTCCACTTTTAAAGCATCAATTCATTTTTGTTAAGCTCCAAATCATTTTAACAGAAAAGTCTCTTTGTTTTGCTCTAGTTCAAAAGATTATAATTATTTCTGAGTTTATCTGCTTATATTTTTAAAAGAGTAGAATTTTCCCTTTAAGGTCAATAATAAGAAAAAAGAAAAAGTTCAGCAAACCAGTATAGATTTTTATGGTTTTTTTTGTTTTTGTTTTTTTTTTTTGAGTTGGAGTTTCGCTCTTGTTGCCGAGGCTGGAGTGCAATGGCGCGATCCCGGCTCACTGCAAACTCTGCCTCCCGGATT... |
Task1_train_22269 | A variant on Chromosome 16 in gene CREBBP (CREB binding protein) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Menke-Hennekam syndrome | AAAAAAGGCATGAGTCACCAGCAATGACGACAAAAAGAATCCAAACAAAACCCCCCTCCCCCCAAACAAAAACAAAACGGAAAAAAAAGAACCCCCCCCACCCCCCCGCCAAAAAAAAACCAAAGAGAGAGACCAGATATTTAAATCAACTGGTTTTTAACAAAAAAATATATTCTTTGTATTGTTTCTTTAAACATCAATCCACCCTTCCATGGCTCGGAAGTCGCAGTTCCATCTAGGAATAAAAAGAACCTAGATGCCTGGATTTTCAGTACAAAAGGTCCAAGAACATGAAAGGGAAAAGGTGATGCTCTCACAAT... | AAAAAAGGCATGAGTCACCAGCAATGACGACAAAAAGAATCCAAACAAAACCCCCCTCCCCCCAAACAAAAACAAAACGGAAAAAAAAGAACCCCCCCCACCCCCCCGCCAAAAAAAAACCAAAGAGAGAGACCAGATATTTAAATCAACTGGTTTTTAACAAAAAAATATATTCTTTGTATTGTTTCTTTAAACATCAATCCACCCTTCCATGGCTCGGAAGTCGCAGTTCCATCTAGGAATAAAAAGAACCTAGATGCCTGGATTTTCAGTACAAAAGGTCCAAGAACATGAAAGGGAAAAGGTGATGCTCTCACAAT... |
Task1_train_22270 | Assess the clinical impact of this variant on gene CREBBP (CREB binding protein), found on Chromosome 16. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; See cases | AAAAAAGGCATGAGTCACCAGCAATGACGACAAAAAGAATCCAAACAAAACCCCCCTCCCCCCAAACAAAAACAAAACGGAAAAAAAAGAACCCCCCCCACCCCCCCGCCAAAAAAAAACCAAAGAGAGAGACCAGATATTTAAATCAACTGGTTTTTAACAAAAAAATATATTCTTTGTATTGTTTCTTTAAACATCAATCCACCCTTCCATGGCTCGGAAGTCGCAGTTCCATCTAGGAATAAAAAGAACCTAGATGCCTGGATTTTCAGTACAAAAGGTCCAAGAACATGAAAGGGAAAAGGTGATGCTCTCACAAT... | AAAAAAGGCATGAGTCACCAGCAATGACGACAAAAAGAATCCAAACAAAACCCCCCTCCCCCCAAACAAAAACAAAACGGAAAAAAAAGAACCCCCCCCACCCCCCCGCCAAAAAAAAACCAAAGAGAGAGACCAGATATTTAAATCAACTGGTTTTTAACAAAAAAATATATTCTTTGTATTGTTTCTTTAAACATCAATCCACCCTTCCATGGCTCGGAAGTCGCAGTTCCATCTAGGAATAAAAAGAACCTAGATGCCTGGATTTTCAGTACAAAAGGTCCAAGAACATGAAAGGGAAAAGGTGATGCTCTCACAAT... |
Task1_train_22271 | An alteration has been detected in CREBBP (CREB binding protein) on Chromosome 16. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Menke-Hennekam syndrome 1 | AAAAAAGGCATGAGTCACCAGCAATGACGACAAAAAGAATCCAAACAAAACCCCCCTCCCCCCAAACAAAAACAAAACGGAAAAAAAAGAACCCCCCCCACCCCCCCGCCAAAAAAAAACCAAAGAGAGAGACCAGATATTTAAATCAACTGGTTTTTAACAAAAAAATATATTCTTTGTATTGTTTCTTTAAACATCAATCCACCCTTCCATGGCTCGGAAGTCGCAGTTCCATCTAGGAATAAAAAGAACCTAGATGCCTGGATTTTCAGTACAAAAGGTCCAAGAACATGAAAGGGAAAAGGTGATGCTCTCACAAT... | AAAAAAGGCATGAGTCACCAGCAATGACGACAAAAAGAATCCAAACAAAACCCCCCTCCCCCCAAACAAAAACAAAACGGAAAAAAAAGAACCCCCCCCACCCCCCCGCCAAAAAAAAACCAAAGAGAGAGACCAGATATTTAAATCAACTGGTTTTTAACAAAAAAATATATTCTTTGTATTGTTTCTTTAAACATCAATCCACCCTTCCATGGCTCGGAAGTCGCAGTTCCATCTAGGAATAAAAAGAACCTAGATGCCTGGATTTTCAGTACAAAAGGTCCAAGAACATGAAAGGGAAAAGGTGATGCTCTCACAAT... |
Task1_train_22272 | The gene CREBBP (CREB binding protein), on Chromosome 16, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; not provided | AAAAGGCATGAGTCACCAGCAATGACGACAAAAAGAATCCAAACAAAACCCCCCTCCCCCCAAACAAAAACAAAACGGAAAAAAAAGAACCCCCCCCACCCCCCCGCCAAAAAAAAACCAAAGAGAGAGACCAGATATTTAAATCAACTGGTTTTTAACAAAAAAATATATTCTTTGTATTGTTTCTTTAAACATCAATCCACCCTTCCATGGCTCGGAAGTCGCAGTTCCATCTAGGAATAAAAAGAACCTAGATGCCTGGATTTTCAGTACAAAAGGTCCAAGAACATGAAAGGGAAAAGGTGATGCTCTCACAATGC... | AAAAGGCATGAGTCACCAGCAATGACGACAAAAAGAATCCAAACAAAACCCCCCTCCCCCCAAACAAAAACAAAACGGAAAAAAAAGAACCCCCCCCACCCCCCCGCCAAAAAAAAACCAAAGAGAGAGACCAGATATTTAAATCAACTGGTTTTTAACAAAAAAATATATTCTTTGTATTGTTTCTTTAAACATCAATCCACCCTTCCATGGCTCGGAAGTCGCAGTTCCATCTAGGAATAAAAAGAACCTAGATGCCTGGATTTTCAGTACAAAAGGTCCAAGAACATGAAAGGGAAAAGGTGATGCTCTCACAATGC... |
Task1_train_22273 | A variant affecting Chromosome 16, within the gene CREBBP (CREB binding protein), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Rubinstein-Taybi syndrome | AAAAGGCATGAGTCACCAGCAATGACGACAAAAAGAATCCAAACAAAACCCCCCTCCCCCCAAACAAAAACAAAACGGAAAAAAAAGAACCCCCCCCACCCCCCCGCCAAAAAAAAACCAAAGAGAGAGACCAGATATTTAAATCAACTGGTTTTTAACAAAAAAATATATTCTTTGTATTGTTTCTTTAAACATCAATCCACCCTTCCATGGCTCGGAAGTCGCAGTTCCATCTAGGAATAAAAAGAACCTAGATGCCTGGATTTTCAGTACAAAAGGTCCAAGAACATGAAAGGGAAAAGGTGATGCTCTCACAATGC... | AAAAGGCATGAGTCACCAGCAATGACGACAAAAAGAATCCAAACAAAACCCCCCTCCCCCCAAACAAAAACAAAACGGAAAAAAAAGAACCCCCCCCACCCCCCCGCCAAAAAAAAACCAAAGAGAGAGACCAGATATTTAAATCAACTGGTTTTTAACAAAAAAATATATTCTTTGTATTGTTTCTTTAAACATCAATCCACCCTTCCATGGCTCGGAAGTCGCAGTTCCATCTAGGAATAAAAAGAACCTAGATGCCTGGATTTTCAGTACAAAAGGTCCAAGAACATGAAAGGGAAAAGGTGATGCTCTCACAATGC... |
Task1_train_22274 | Gene CREBBP (CREB binding protein) on Chromosome 16 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; not provided | AAAGGCATGAGTCACCAGCAATGACGACAAAAAGAATCCAAACAAAACCCCCCTCCCCCCAAACAAAAACAAAACGGAAAAAAAAGAACCCCCCCCACCCCCCCGCCAAAAAAAAACCAAAGAGAGAGACCAGATATTTAAATCAACTGGTTTTTAACAAAAAAATATATTCTTTGTATTGTTTCTTTAAACATCAATCCACCCTTCCATGGCTCGGAAGTCGCAGTTCCATCTAGGAATAAAAAGAACCTAGATGCCTGGATTTTCAGTACAAAAGGTCCAAGAACATGAAAGGGAAAAGGTGATGCTCTCACAATGCT... | AAAGGCATGAGTCACCAGCAATGACGACAAAAAGAATCCAAACAAAACCCCCCTCCCCCCAAACAAAAACAAAACGGAAAAAAAAGAACCCCCCCCACCCCCCCGCCAAAAAAAAACCAAAGAGAGAGACCAGATATTTAAATCAACTGGTTTTTAACAAAAAAATATATTCTTTGTATTGTTTCTTTAAACATCAATCCACCCTTCCATGGCTCGGAAGTCGCAGTTCCATCTAGGAATAAAAAGAACCTAGATGCCTGGATTTTCAGTACAAAAGGTCCAAGAACATGAAAGGGAAAAGGTGATGCTCTCACAATGCT... |
Task1_train_22275 | A mutation in CREBBP (CREB binding protein), located on Chromosome 16, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; not provided | AACCCCCCCCACCCCCCCGCCAAAAAAAAACCAAAGAGAGAGACCAGATATTTAAATCAACTGGTTTTTAACAAAAAAATATATTCTTTGTATTGTTTCTTTAAACATCAATCCACCCTTCCATGGCTCGGAAGTCGCAGTTCCATCTAGGAATAAAAAGAACCTAGATGCCTGGATTTTCAGTACAAAAGGTCCAAGAACATGAAAGGGAAAAGGTGATGCTCTCACAATGCTACAAGCCCTCCACAAACTTCTCTAGCGTGTCCCCCGTGGTGTCCCCGACCAGGGACAGTTCGCTGGACAGCGCACTCCTGCTGGGG... | AACCCCCCCCACCCCCCCGCCAAAAAAAAACCAAAGAGAGAGACCAGATATTTAAATCAACTGGTTTTTAACAAAAAAATATATTCTTTGTATTGTTTCTTTAAACATCAATCCACCCTTCCATGGCTCGGAAGTCGCAGTTCCATCTAGGAATAAAAAGAACCTAGATGCCTGGATTTTCAGTACAAAAGGTCCAAGAACATGAAAGGGAAAAGGTGATGCTCTCACAATGCTACAAGCCCTCCACAAACTTCTCTAGCGTGTCCCCCGTGGTGTCCCCGACCAGGGACAGTTCGCTGGACAGCGCACTCCTGCTGGGG... |
Task1_train_22276 | A mutation in CREBBP (CREB binding protein), located on Chromosome 16, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; not provided | AAAAATATATTCTTTGTATTGTTTCTTTAAACATCAATCCACCCTTCCATGGCTCGGAAGTCGCAGTTCCATCTAGGAATAAAAAGAACCTAGATGCCTGGATTTTCAGTACAAAAGGTCCAAGAACATGAAAGGGAAAAGGTGATGCTCTCACAATGCTACAAGCCCTCCACAAACTTCTCTAGCGTGTCCCCCGTGGTGTCCCCGACCAGGGACAGTTCGCTGGACAGCGCACTCCTGCTGGGGGTGTTCAGCTGGGGGAGCATTGCACTCTGTTCGGGGTTCCCCAAGTGTCCCTGATCTATGGAGCTGGCCATGGT... | AAAAATATATTCTTTGTATTGTTTCTTTAAACATCAATCCACCCTTCCATGGCTCGGAAGTCGCAGTTCCATCTAGGAATAAAAAGAACCTAGATGCCTGGATTTTCAGTACAAAAGGTCCAAGAACATGAAAGGGAAAAGGTGATGCTCTCACAATGCTACAAGCCCTCCACAAACTTCTCTAGCGTGTCCCCCGTGGTGTCCCCGACCAGGGACAGTTCGCTGGACAGCGCACTCCTGCTGGGGGTGTTCAGCTGGGGGAGCATTGCACTCTGTTCGGGGTTCCCCAAGTGTCCCTGATCTATGGAGCTGGCCATGGT... |
Task1_train_22277 | This mutation is located in gene CREBBP (CREB binding protein) on Chromosome 16. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Inborn genetic diseases | ATAAAAAGAACCTAGATGCCTGGATTTTCAGTACAAAAGGTCCAAGAACATGAAAGGGAAAAGGTGATGCTCTCACAATGCTACAAGCCCTCCACAAACTTCTCTAGCGTGTCCCCCGTGGTGTCCCCGACCAGGGACAGTTCGCTGGACAGCGCACTCCTGCTGGGGGTGTTCAGCTGGGGGAGCATTGCACTCTGTTCGGGGTTCCCCAAGTGTCCCTGATCTATGGAGCTGGCCATGGTGACTGCGAGTCCGGGGTGGGGGGAACCAGTCTGGGGTGAGACGTGGTGTGGCGAAGGCTGGGGCTGTATCCGTGGTGA... | ATAAAAAGAACCTAGATGCCTGGATTTTCAGTACAAAAGGTCCAAGAACATGAAAGGGAAAAGGTGATGCTCTCACAATGCTACAAGCCCTCCACAAACTTCTCTAGCGTGTCCCCCGTGGTGTCCCCGACCAGGGACAGTTCGCTGGACAGCGCACTCCTGCTGGGGGTGTTCAGCTGGGGGAGCATTGCACTCTGTTCGGGGTTCCCCAAGTGTCCCTGATCTATGGAGCTGGCCATGGTGACTGCGAGTCCGGGGTGGGGGGAACCAGTCTGGGGTGAGACGTGGTGTGGCGAAGGCTGGGGCTGTATCCGTGGTGA... |
Task1_train_22278 | A variant has been detected on Chromosome 16 in CREBBP (CREB binding protein). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Rubinstein-Taybi syndrome due to CREBBP mutations | TTTCAGTACAAAAGGTCCAAGAACATGAAAGGGAAAAGGTGATGCTCTCACAATGCTACAAGCCCTCCACAAACTTCTCTAGCGTGTCCCCCGTGGTGTCCCCGACCAGGGACAGTTCGCTGGACAGCGCACTCCTGCTGGGGGTGTTCAGCTGGGGGAGCATTGCACTCTGTTCGGGGTTCCCCAAGTGTCCCTGATCTATGGAGCTGGCCATGGTGACTGCGAGTCCGGGGTGGGGGGAACCAGTCTGGGGTGAGACGTGGTGTGGCGAAGGCTGGGGCTGTATCCGTGGTGACGGGCTGGAATGTGGAGGCTGGGAC... | TTTCAGTACAAAAGGTCCAAGAACATGAAAGGGAAAAGGTGATGCTCTCACAATGCTACAAGCCCTCCACAAACTTCTCTAGCGTGTCCCCCGTGGTGTCCCCGACCAGGGACAGTTCGCTGGACAGCGCACTCCTGCTGGGGGTGTTCAGCTGGGGGAGCATTGCACTCTGTTCGGGGTTCCCCAAGTGTCCCTGATCTATGGAGCTGGCCATGGTGACTGCGAGTCCGGGGTGGGGGGAACCAGTCTGGGGTGAGACGTGGTGTGGCGAAGGCTGGGGCTGTATCCGTGGTGACGGGCTGGAATGTGGAGGCTGGGAC... |
Task1_train_22279 | Chromosome 16 houses a mutation in gene CREBBP (CREB binding protein). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; not provided | CTGGGCCTCACGCTCGATCTGCCGAGCCGCTTCCACCGCTGCAGGAGGGGGCTGGGCCGGGGGTGGGGGGGCCGGCACCTGGCTGGTAGGCTTCCCTGTGGACACCGTGGTGGGGGGCTGAGTCCGGGCCACGCTGGGGAAGCCAGCTGGTGACATGCTCACGGGTGAGGGTTGGGGCTGGGCAGGGGGCTGCGGCGTCTGGGGTGTGCTGGGCTGCTGTGTGGGGGTCCCGGGCGGTGCTGAGGTAGGAGAAGGCAGACTCTGCTGAGGCACGTTGCGGGTGTTCATGGTGGCCATCCGCCGGCGCATGAGCTGGGCCT... | CTGGGCCTCACGCTCGATCTGCCGAGCCGCTTCCACCGCTGCAGGAGGGGGCTGGGCCGGGGGTGGGGGGGCCGGCACCTGGCTGGTAGGCTTCCCTGTGGACACCGTGGTGGGGGGCTGAGTCCGGGCCACGCTGGGGAAGCCAGCTGGTGACATGCTCACGGGTGAGGGTTGGGGCTGGGCAGGGGGCTGCGGCGTCTGGGGTGTGCTGGGCTGCTGTGTGGGGGTCCCGGGCGGTGCTGAGGTAGGAGAAGGCAGACTCTGCTGAGGCACGTTGCGGGTGTTCATGGTGGCCATCCGCCGGCGCATGAGCTGGGCCT... |
Task1_train_22280 | Given a variant located on Chromosome 16 and affecting CREBBP (CREB binding protein), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Menke-Hennekam syndrome 1 | TGGGCCTCACGCTCGATCTGCCGAGCCGCTTCCACCGCTGCAGGAGGGGGCTGGGCCGGGGGTGGGGGGGCCGGCACCTGGCTGGTAGGCTTCCCTGTGGACACCGTGGTGGGGGGCTGAGTCCGGGCCACGCTGGGGAAGCCAGCTGGTGACATGCTCACGGGTGAGGGTTGGGGCTGGGCAGGGGGCTGCGGCGTCTGGGGTGTGCTGGGCTGCTGTGTGGGGGTCCCGGGCGGTGCTGAGGTAGGAGAAGGCAGACTCTGCTGAGGCACGTTGCGGGTGTTCATGGTGGCCATCCGCCGGCGCATGAGCTGGGCCTG... | TGGGCCTCACGCTCGATCTGCCGAGCCGCTTCCACCGCTGCAGGAGGGGGCTGGGCCGGGGGTGGGGGGGCCGGCACCTGGCTGGTAGGCTTCCCTGTGGACACCGTGGTGGGGGGCTGAGTCCGGGCCACGCTGGGGAAGCCAGCTGGTGACATGCTCACGGGTGAGGGTTGGGGCTGGGCAGGGGGCTGCGGCGTCTGGGGTGTGCTGGGCTGCTGTGTGGGGGTCCCGGGCGGTGCTGAGGTAGGAGAAGGCAGACTCTGCTGAGGCACGTTGCGGGTGTTCATGGTGGCCATCCGCCGGCGCATGAGCTGGGCCTG... |
Task1_train_22281 | Gene CREBBP (CREB binding protein), found on Chromosome 16, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Rubinstein-Taybi syndrome due to CREBBP mutations | TGGGCCTCACGCTCGATCTGCCGAGCCGCTTCCACCGCTGCAGGAGGGGGCTGGGCCGGGGGTGGGGGGGCCGGCACCTGGCTGGTAGGCTTCCCTGTGGACACCGTGGTGGGGGGCTGAGTCCGGGCCACGCTGGGGAAGCCAGCTGGTGACATGCTCACGGGTGAGGGTTGGGGCTGGGCAGGGGGCTGCGGCGTCTGGGGTGTGCTGGGCTGCTGTGTGGGGGTCCCGGGCGGTGCTGAGGTAGGAGAAGGCAGACTCTGCTGAGGCACGTTGCGGGTGTTCATGGTGGCCATCCGCCGGCGCATGAGCTGGGCCTG... | TGGGCCTCACGCTCGATCTGCCGAGCCGCTTCCACCGCTGCAGGAGGGGGCTGGGCCGGGGGTGGGGGGGCCGGCACCTGGCTGGTAGGCTTCCCTGTGGACACCGTGGTGGGGGGCTGAGTCCGGGCCACGCTGGGGAAGCCAGCTGGTGACATGCTCACGGGTGAGGGTTGGGGCTGGGCAGGGGGCTGCGGCGTCTGGGGTGTGCTGGGCTGCTGTGTGGGGGTCCCGGGCGGTGCTGAGGTAGGAGAAGGCAGACTCTGCTGAGGCACGTTGCGGGTGTTCATGGTGGCCATCCGCCGGCGCATGAGCTGGGCCTG... |
Task1_train_22282 | A sequence alteration has been identified in CREBBP (CREB binding protein) on Chromosome 16. Is it disease-inducing or harmless? | Pathogenic; Inborn genetic diseases | CAGGAGGGGGCTGGGCCGGGGGTGGGGGGGCCGGCACCTGGCTGGTAGGCTTCCCTGTGGACACCGTGGTGGGGGGCTGAGTCCGGGCCACGCTGGGGAAGCCAGCTGGTGACATGCTCACGGGTGAGGGTTGGGGCTGGGCAGGGGGCTGCGGCGTCTGGGGTGTGCTGGGCTGCTGTGTGGGGGTCCCGGGCGGTGCTGAGGTAGGAGAAGGCAGACTCTGCTGAGGCACGTTGCGGGTGTTCATGGTGGCCATCCGCCGGCGCATGAGCTGGGCCTGCTGCAGGCGGTGCTGGATCTGCTGCTGGCGGAGCTTGTGT... | CAGGAGGGGGCTGGGCCGGGGGTGGGGGGGCCGGCACCTGGCTGGTAGGCTTCCCTGTGGACACCGTGGTGGGGGGCTGAGTCCGGGCCACGCTGGGGAAGCCAGCTGGTGACATGCTCACGGGTGAGGGTTGGGGCTGGGCAGGGGGCTGCGGCGTCTGGGGTGTGCTGGGCTGCTGTGTGGGGGTCCCGGGCGGTGCTGAGGTAGGAGAAGGCAGACTCTGCTGAGGCACGTTGCGGGTGTTCATGGTGGCCATCCGCCGGCGCATGAGCTGGGCCTGCTGCAGGCGGTGCTGGATCTGCTGCTGGCGGAGCTTGTGT... |
Task1_train_22283 | The gene CREBBP (CREB binding protein) on Chromosome 16 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Menke-Hennekam syndrome 1 | AGGAGGGGGCTGGGCCGGGGGTGGGGGGGCCGGCACCTGGCTGGTAGGCTTCCCTGTGGACACCGTGGTGGGGGGCTGAGTCCGGGCCACGCTGGGGAAGCCAGCTGGTGACATGCTCACGGGTGAGGGTTGGGGCTGGGCAGGGGGCTGCGGCGTCTGGGGTGTGCTGGGCTGCTGTGTGGGGGTCCCGGGCGGTGCTGAGGTAGGAGAAGGCAGACTCTGCTGAGGCACGTTGCGGGTGTTCATGGTGGCCATCCGCCGGCGCATGAGCTGGGCCTGCTGCAGGCGGTGCTGGATCTGCTGCTGGCGGAGCTTGTGTT... | AGGAGGGGGCTGGGCCGGGGGTGGGGGGGCCGGCACCTGGCTGGTAGGCTTCCCTGTGGACACCGTGGTGGGGGGCTGAGTCCGGGCCACGCTGGGGAAGCCAGCTGGTGACATGCTCACGGGTGAGGGTTGGGGCTGGGCAGGGGGCTGCGGCGTCTGGGGTGTGCTGGGCTGCTGTGTGGGGGTCCCGGGCGGTGCTGAGGTAGGAGAAGGCAGACTCTGCTGAGGCACGTTGCGGGTGTTCATGGTGGCCATCCGCCGGCGCATGAGCTGGGCCTGCTGCAGGCGGTGCTGGATCTGCTGCTGGCGGAGCTTGTGTT... |
Task1_train_22284 | A variant was discovered on Chromosome 16, affecting CREBBP (CREB binding protein). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Rubinstein-Taybi syndrome | ACCAGCTACACTCCAGCGGGAGCAAGTCCGAAGACAACAGGCCAGGAGCTCTGCTTAGGAGCCACCTAGGGCGTAAACCCACGCCACCCCCTGCCCGCGCCTCCTCTGTCCTGCGAATGACACTCTGGGGCGCCGTCCAGCAGGTGGCTGCCTCTCAACCACCTGTGCAGTGAGCACGAGTGTGTGTGGCGGAAGCGGCCCAGGCCCCACGCTCCGCCTACAGCCCATCCGGCACCCACCTCACAGACGTGCTCTCATATGGGACAGGCACCAGAGTGGCAGTATGTCCCCAGCCGGCTCCCGGCTGCCTCACCCATGGC... | ACCAGCTACACTCCAGCGGGAGCAAGTCCGAAGACAACAGGCCAGGAGCTCTGCTTAGGAGCCACCTAGGGCGTAAACCCACGCCACCCCCTGCCCGCGCCTCCTCTGTCCTGCGAATGACACTCTGGGGCGCCGTCCAGCAGGTGGCTGCCTCTCAACCACCTGTGCAGTGAGCACGAGTGTGTGTGGCGGAAGCGGCCCAGGCCCCACGCTCCGCCTACAGCCCATCCGGCACCCACCTCACAGACGTGCTCTCATATGGGACAGGCACCAGAGTGGCAGTATGTCCCCAGCCGGCTCCCGGCTGCCTCACCCATGGC... |
Task1_train_22285 | A mutation found in CREBBP (CREB binding protein) on Chromosome 16 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Rubinstein-Taybi syndrome due to CREBBP mutations | TGCTTAGGAGCCACCTAGGGCGTAAACCCACGCCACCCCCTGCCCGCGCCTCCTCTGTCCTGCGAATGACACTCTGGGGCGCCGTCCAGCAGGTGGCTGCCTCTCAACCACCTGTGCAGTGAGCACGAGTGTGTGTGGCGGAAGCGGCCCAGGCCCCACGCTCCGCCTACAGCCCATCCGGCACCCACCTCACAGACGTGCTCTCATATGGGACAGGCACCAGAGTGGCAGTATGTCCCCAGCCGGCTCCCGGCTGCCTCACCCATGGCAGCAGCCCACGCAAGAGCCACCTCCATTCACCGCTTTTCCTCACTGGTCAC... | TGCTTAGGAGCCACCTAGGGCGTAAACCCACGCCACCCCCTGCCCGCGCCTCCTCTGTCCTGCGAATGACACTCTGGGGCGCCGTCCAGCAGGTGGCTGCCTCTCAACCACCTGTGCAGTGAGCACGAGTGTGTGTGGCGGAAGCGGCCCAGGCCCCACGCTCCGCCTACAGCCCATCCGGCACCCACCTCACAGACGTGCTCTCATATGGGACAGGCACCAGAGTGGCAGTATGTCCCCAGCCGGCTCCCGGCTGCCTCACCCATGGCAGCAGCCCACGCAAGAGCCACCTCCATTCACCGCTTTTCCTCACTGGTCAC... |
Task1_train_22286 | This mutation is located in gene CREBBP (CREB binding protein) on Chromosome 16. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Inborn genetic diseases | CCTAGGGCGTAAACCCACGCCACCCCCTGCCCGCGCCTCCTCTGTCCTGCGAATGACACTCTGGGGCGCCGTCCAGCAGGTGGCTGCCTCTCAACCACCTGTGCAGTGAGCACGAGTGTGTGTGGCGGAAGCGGCCCAGGCCCCACGCTCCGCCTACAGCCCATCCGGCACCCACCTCACAGACGTGCTCTCATATGGGACAGGCACCAGAGTGGCAGTATGTCCCCAGCCGGCTCCCGGCTGCCTCACCCATGGCAGCAGCCCACGCAAGAGCCACCTCCATTCACCGCTTTTCCTCACTGGTCACAATCGCCTGTCCC... | CCTAGGGCGTAAACCCACGCCACCCCCTGCCCGCGCCTCCTCTGTCCTGCGAATGACACTCTGGGGCGCCGTCCAGCAGGTGGCTGCCTCTCAACCACCTGTGCAGTGAGCACGAGTGTGTGTGGCGGAAGCGGCCCAGGCCCCACGCTCCGCCTACAGCCCATCCGGCACCCACCTCACAGACGTGCTCTCATATGGGACAGGCACCAGAGTGGCAGTATGTCCCCAGCCGGCTCCCGGCTGCCTCACCCATGGCAGCAGCCCACGCAAGAGCCACCTCCATTCACCGCTTTTCCTCACTGGTCACAATCGCCTGTCCC... |
Task1_train_22287 | This gene mutation involves CREBBP (CREB binding protein) on Chromosome 16. Is it associated with any clinical condition, or is it benign? | Pathogenic; Rubinstein-Taybi syndrome | CACGCCACCCCCTGCCCGCGCCTCCTCTGTCCTGCGAATGACACTCTGGGGCGCCGTCCAGCAGGTGGCTGCCTCTCAACCACCTGTGCAGTGAGCACGAGTGTGTGTGGCGGAAGCGGCCCAGGCCCCACGCTCCGCCTACAGCCCATCCGGCACCCACCTCACAGACGTGCTCTCATATGGGACAGGCACCAGAGTGGCAGTATGTCCCCAGCCGGCTCCCGGCTGCCTCACCCATGGCAGCAGCCCACGCAAGAGCCACCTCCATTCACCGCTTTTCCTCACTGGTCACAATCGCCTGTCCCAAGTTCTGGGGCTGC... | CACGCCACCCCCTGCCCGCGCCTCCTCTGTCCTGCGAATGACACTCTGGGGCGCCGTCCAGCAGGTGGCTGCCTCTCAACCACCTGTGCAGTGAGCACGAGTGTGTGTGGCGGAAGCGGCCCAGGCCCCACGCTCCGCCTACAGCCCATCCGGCACCCACCTCACAGACGTGCTCTCATATGGGACAGGCACCAGAGTGGCAGTATGTCCCCAGCCGGCTCCCGGCTGCCTCACCCATGGCAGCAGCCCACGCAAGAGCCACCTCCATTCACCGCTTTTCCTCACTGGTCACAATCGCCTGTCCCAAGTTCTGGGGCTGC... |
Task1_train_22288 | This gene mutation involves CREBBP (CREB binding protein) on Chromosome 16. Is it associated with any clinical condition, or is it benign? | Pathogenic; Rubinstein-Taybi syndrome due to CREBBP mutations | AATGACACTCTGGGGCGCCGTCCAGCAGGTGGCTGCCTCTCAACCACCTGTGCAGTGAGCACGAGTGTGTGTGGCGGAAGCGGCCCAGGCCCCACGCTCCGCCTACAGCCCATCCGGCACCCACCTCACAGACGTGCTCTCATATGGGACAGGCACCAGAGTGGCAGTATGTCCCCAGCCGGCTCCCGGCTGCCTCACCCATGGCAGCAGCCCACGCAAGAGCCACCTCCATTCACCGCTTTTCCTCACTGGTCACAATCGCCTGTCCCAAGTTCTGGGGCTGCAGCCTTCAACGTTCGTCATCGCTCTCCCTGCACCTA... | AATGACACTCTGGGGCGCCGTCCAGCAGGTGGCTGCCTCTCAACCACCTGTGCAGTGAGCACGAGTGTGTGTGGCGGAAGCGGCCCAGGCCCCACGCTCCGCCTACAGCCCATCCGGCACCCACCTCACAGACGTGCTCTCATATGGGACAGGCACCAGAGTGGCAGTATGTCCCCAGCCGGCTCCCGGCTGCCTCACCCATGGCAGCAGCCCACGCAAGAGCCACCTCCATTCACCGCTTTTCCTCACTGGTCACAATCGCCTGTCCCAAGTTCTGGGGCTGCAGCCTTCAACGTTCGTCATCGCTCTCCCTGCACCTA... |
Task1_train_22289 | Consider this mutation in CREBBP (CREB binding protein) on Chromosome 16. Is this a benign change or a disease-causing variant? | Pathogenic; Inborn genetic diseases | CCTCTCAACCACCTGTGCAGTGAGCACGAGTGTGTGTGGCGGAAGCGGCCCAGGCCCCACGCTCCGCCTACAGCCCATCCGGCACCCACCTCACAGACGTGCTCTCATATGGGACAGGCACCAGAGTGGCAGTATGTCCCCAGCCGGCTCCCGGCTGCCTCACCCATGGCAGCAGCCCACGCAAGAGCCACCTCCATTCACCGCTTTTCCTCACTGGTCACAATCGCCTGTCCCAAGTTCTGGGGCTGCAGCCTTCAACGTTCGTCATCGCTCTCCCTGCACCTACAGCTACAGCCCACACCCACGCCACCATCATCTCT... | CCTCTCAACCACCTGTGCAGTGAGCACGAGTGTGTGTGGCGGAAGCGGCCCAGGCCCCACGCTCCGCCTACAGCCCATCCGGCACCCACCTCACAGACGTGCTCTCATATGGGACAGGCACCAGAGTGGCAGTATGTCCCCAGCCGGCTCCCGGCTGCCTCACCCATGGCAGCAGCCCACGCAAGAGCCACCTCCATTCACCGCTTTTCCTCACTGGTCACAATCGCCTGTCCCAAGTTCTGGGGCTGCAGCCTTCAACGTTCGTCATCGCTCTCCCTGCACCTACAGCTACAGCCCACACCCACGCCACCATCATCTCT... |
Task1_train_22290 | Gene CREBBP (CREB binding protein) on Chromosome 16 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Rubinstein-Taybi syndrome | ACTTTAGGCTTTTATTTTTCTGCTTTCTAATCCTCATAAGTGAAGGTAATTAACAAGTATGCGAATGCAAGAAAAAGGCACACAAATATCCTCCCCTCAGTTGTGACAAAAGCCACCACCTTCCTTCAGCGCCGGGTACCTTGTAGTCATGGATGATCCGCTCTGCAAACGCCTTGTCCAGCATCTTTTTGTACCACTCCTGCAGTCGTTTTGGCTTGGGTATTTTTTGATCAGGTGGGTGGCAATGGAAGATGTAATCATCTCCTTCACTTGGAGGACAGGCCCAGATGTGCCCTGTCACATACCTGCAGGACCCACGC... | ACTTTAGGCTTTTATTTTTCTGCTTTCTAATCCTCATAAGTGAAGGTAATTAACAAGTATGCGAATGCAAGAAAAAGGCACACAAATATCCTCCCCTCAGTTGTGACAAAAGCCACCACCTTCCTTCAGCGCCGGGTACCTTGTAGTCATGGATGATCCGCTCTGCAAACGCCTTGTCCAGCATCTTTTTGTACCACTCCTGCAGTCGTTTTGGCTTGGGTATTTTTTGATCAGGTGGGTGGCAATGGAAGATGTAATCATCTCCTTCACTTGGAGGACAGGCCCAGATGTGCCCTGTCACATACCTGCAGGACCCACGC... |
Task1_train_22291 | This sequence variant lies in CREBBP (CREB binding protein) on Chromosome 16. Is it clinically significant, and what condition might it cause if any? | Pathogenic; not provided | CTTTAGGCTTTTATTTTTCTGCTTTCTAATCCTCATAAGTGAAGGTAATTAACAAGTATGCGAATGCAAGAAAAAGGCACACAAATATCCTCCCCTCAGTTGTGACAAAAGCCACCACCTTCCTTCAGCGCCGGGTACCTTGTAGTCATGGATGATCCGCTCTGCAAACGCCTTGTCCAGCATCTTTTTGTACCACTCCTGCAGTCGTTTTGGCTTGGGTATTTTTTGATCAGGTGGGTGGCAATGGAAGATGTAATCATCTCCTTCACTTGGAGGACAGGCCCAGATGTGCCCTGTCACATACCTGCAGGACCCACGCA... | CTTTAGGCTTTTATTTTTCTGCTTTCTAATCCTCATAAGTGAAGGTAATTAACAAGTATGCGAATGCAAGAAAAAGGCACACAAATATCCTCCCCTCAGTTGTGACAAAAGCCACCACCTTCCTTCAGCGCCGGGTACCTTGTAGTCATGGATGATCCGCTCTGCAAACGCCTTGTCCAGCATCTTTTTGTACCACTCCTGCAGTCGTTTTGGCTTGGGTATTTTTTGATCAGGTGGGTGGCAATGGAAGATGTAATCATCTCCTTCACTTGGAGGACAGGCCCAGATGTGCCCTGTCACATACCTGCAGGACCCACGCA... |
Task1_train_22292 | The gene CREBBP (CREB binding protein) is located on Chromosome 16, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Inborn genetic diseases | TAATTAACAAGTATGCGAATGCAAGAAAAAGGCACACAAATATCCTCCCCTCAGTTGTGACAAAAGCCACCACCTTCCTTCAGCGCCGGGTACCTTGTAGTCATGGATGATCCGCTCTGCAAACGCCTTGTCCAGCATCTTTTTGTACCACTCCTGCAGTCGTTTTGGCTTGGGTATTTTTTGATCAGGTGGGTGGCAATGGAAGATGTAATCATCTCCTTCACTTGGAGGACAGGCCCAGATGTGCCCTGTCACATACCTGCAGGACCCACGCACACACGTCAGATGAACGTGCCAGTGAAATCGGCCCTGCCTTTAAG... | TAATTAACAAGTATGCGAATGCAAGAAAAAGGCACACAAATATCCTCCCCTCAGTTGTGACAAAAGCCACCACCTTCCTTCAGCGCCGGGTACCTTGTAGTCATGGATGATCCGCTCTGCAAACGCCTTGTCCAGCATCTTTTTGTACCACTCCTGCAGTCGTTTTGGCTTGGGTATTTTTTGATCAGGTGGGTGGCAATGGAAGATGTAATCATCTCCTTCACTTGGAGGACAGGCCCAGATGTGCCCTGTCACATACCTGCAGGACCCACGCACACACGTCAGATGAACGTGCCAGTGAAATCGGCCCTGCCTTTAAG... |
Task1_train_22293 | A sequence alteration has been identified in CREBBP (CREB binding protein) on Chromosome 16. Is it disease-inducing or harmless? | Pathogenic; Neurodevelopmental disorder | GTAGGGAAAGAGCTTGCTACGTGCCCAGGAGCCAGACCTGTGAGGCTCGGGGAGCACCTGGAAAGAGGAGCTTTGGAGATTCTGAATTGATCTTAGGATGGAAAAATAAAAACGCATAAAACTTAAAATACCCATTATTTCACGGAATAAACATACAGTAAAAAATAAAGGGTTCTTACTAGTTCCAAATAATTTAATCCAAACTCACCCTAATTTCTTCACATACTCTAAATATCCAATAAGGATCTCATGGTAAACGGCTGTGCGGAGGCAACGTGGCCGGAAGAAATGAATACTATCCAGATAAGAAATGTACACAC... | GTAGGGAAAGAGCTTGCTACGTGCCCAGGAGCCAGACCTGTGAGGCTCGGGGAGCACCTGGAAAGAGGAGCTTTGGAGATTCTGAATTGATCTTAGGATGGAAAAATAAAAACGCATAAAACTTAAAATACCCATTATTTCACGGAATAAACATACAGTAAAAAATAAAGGGTTCTTACTAGTTCCAAATAATTTAATCCAAACTCACCCTAATTTCTTCACATACTCTAAATATCCAATAAGGATCTCATGGTAAACGGCTGTGCGGAGGCAACGTGGCCGGAAGAAATGAATACTATCCAGATAAGAAATGTACACAC... |
Task1_train_22294 | With a mutation on Chromosome 16 in gene CREBBP (CREB binding protein), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Rubinstein-Taybi syndrome | TTTTGAGACATTTTTGTGTCAAAAGGATTTTTTTTAAAAATAGGATTTTGATGGGAGTTATTACTTATCTTGAATATGGATTTTTAAAAAAAACATAGAAGAATTAAAACACATAACCATAAAACTCCAAAATTTTCAGGCCTGTGAACAAATAACAAAAAGCCTTCTGTCTTCTTTGAAGTATAGGACATAATTACTCTGACCAAATGAGAGTAAAATAATAAAAAACGCCAAACCCCACTGTTGACGCTTATTATTTGAACCTAAAGACAAAGAACAGGCACAAACCTCTATCTTGGCCACAGAGAATCCAGCTGCTG... | TTTTGAGACATTTTTGTGTCAAAAGGATTTTTTTTAAAAATAGGATTTTGATGGGAGTTATTACTTATCTTGAATATGGATTTTTAAAAAAAACATAGAAGAATTAAAACACATAACCATAAAACTCCAAAATTTTCAGGCCTGTGAACAAATAACAAAAAGCCTTCTGTCTTCTTTGAAGTATAGGACATAATTACTCTGACCAAATGAGAGTAAAATAATAAAAAACGCCAAACCCCACTGTTGACGCTTATTATTTGAACCTAAAGACAAAGAACAGGCACAAACCTCTATCTTGGCCACAGAGAATCCAGCTGCTG... |
Task1_train_22295 | This variant impacts the gene CREBBP (CREB binding protein) on Chromosome 16. Is the change likely to result in a pathogenic outcome? | Pathogenic; Rubinstein-Taybi syndrome due to CREBBP mutations | TTTTGGTCCCACGAAAGAGCCCCTGTGCCTTACAAGGATCAAAATTGTAAAGGAAGGGGGAAAAGGTGGTTAAGTGTGGAAAATCCTTTCTGATCAACTTATTAAGCATCTGATCATCCAATAATGGACACTACTATGGAAAAAGCTAACCTTTGGGCTCCATCTTGGAAACAGCTGGATGTACATATAAGGACATGCCTTTTTGTTAAGTCTTGTGTTACTAATTGTCCCCCTTTTTAAGACAAAATCTACAACAAATTCATTCAACAACAGCAAAGCTACAAAGCCATCCAGGTTACCAGTTTCAGAAGACAAGCTTC... | TTTTGGTCCCACGAAAGAGCCCCTGTGCCTTACAAGGATCAAAATTGTAAAGGAAGGGGGAAAAGGTGGTTAAGTGTGGAAAATCCTTTCTGATCAACTTATTAAGCATCTGATCATCCAATAATGGACACTACTATGGAAAAAGCTAACCTTTGGGCTCCATCTTGGAAACAGCTGGATGTACATATAAGGACATGCCTTTTTGTTAAGTCTTGTGTTACTAATTGTCCCCCTTTTTAAGACAAAATCTACAACAAATTCATTCAACAACAGCAAAGCTACAAAGCCATCCAGGTTACCAGTTTCAGAAGACAAGCTTC... |
Task1_train_22296 | This sequence variant lies in GLIS2 (GLIS family zinc finger 2) on Chromosome 16. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Nephronophthisis | AAGGTTCCTACCTGCCCGTCTGACAGGGACCCAGGGGCCCTGGGTTCGAGTCCTGTTCTGTTATTAACCCTGCGTGCCAGACCATTCCCGTCTGCAAAGCGGGCACTTCCCCCCTCCCCGGCTCACGGGGGCCAAGCTCTGGCGGCTGGTAAAGCTCAGAGGTGGTGGGTGGTGTCACACACCTGTCAGCTCCACAGGCTGCTCCTCACATTCGTGTGGTCTGGGGGCATGGCTGGTGTCTGCTCCCAAGGTCACAGTGGGGGTTCGGAGGCAGGAGTACCTGGCCCACTGGGACTCTACACTCCAGCACACCCTGAACT... | AAGGTTCCTACCTGCCCGTCTGACAGGGACCCAGGGGCCCTGGGTTCGAGTCCTGTTCTGTTATTAACCCTGCGTGCCAGACCATTCCCGTCTGCAAAGCGGGCACTTCCCCCCTCCCCGGCTCACGGGGGCCAAGCTCTGGCGGCTGGTAAAGCTCAGAGGTGGTGGGTGGTGTCACACACCTGTCAGCTCCACAGGCTGCTCCTCACATTCGTGTGGTCTGGGGGCATGGCTGGTGTCTGCTCCCAAGGTCACAGTGGGGGTTCGGAGGCAGGAGTACCTGGCCCACTGGGACTCTACACTCCAGCACACCCTGAACT... |
Task1_train_22297 | A mutation on Chromosome 16 affecting CORO7-PAM16, PAM16 (CORO7-PAM16 readthrough| presequence translocase associated motor 16) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Autosomal recessive spondylometaphyseal dysplasia, Megarbane type | CTGAGTGGCCAGGCCCTTCCACCTCCCCATCTGTAAAACGAGGCAGCTGCCCGGACAGCCTTGGGGTCCTTAGTGGCCCTGCAGGTCCTCTGGCAGCTCTGCTGACCCCACCCTCTCCCGGACTGCCCTTCTGTCCCAGAGGGGTCACCCTGACCCGGCCCACCTTGCCACTGGGCTTTGGACTCCAGCCCTGACAGGGCCCAGCCACACTGGCTCTGCCCCTCGAAGGGGCTATGAGCAAGGTAGGAGGGAGCTGGTCTCCTTTCTTCGGGCCCCACCCAGGCCCTGAGCACCCCCCACCCCTGTGAGGGCCCCAGGCC... | CTGAGTGGCCAGGCCCTTCCACCTCCCCATCTGTAAAACGAGGCAGCTGCCCGGACAGCCTTGGGGTCCTTAGTGGCCCTGCAGGTCCTCTGGCAGCTCTGCTGACCCCACCCTCTCCCGGACTGCCCTTCTGTCCCAGAGGGGTCACCCTGACCCGGCCCACCTTGCCACTGGGCTTTGGACTCCAGCCCTGACAGGGCCCAGCCACACTGGCTCTGCCCCTCGAAGGGGCTATGAGCAAGGTAGGAGGGAGCTGGTCTCCTTTCTTCGGGCCCCACCCAGGCCCTGAGCACCCCCCACCCCTGTGAGGGCCCCAGGCC... |
Task1_train_22298 | With a mutation on Chromosome 16 in gene CORO7-PAM16, PAM16 (CORO7-PAM16 readthrough| presequence translocase associated motor 16), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Autosomal recessive spondylometaphyseal dysplasia, Megarbane type | GACGAGCTCAGCATGCGACTCGGTGACGGACCAGGCTCGGCAGGGCCGGTGTACTTTTTGTGGTTGTCATTGGTGTGTTGTTGCACATTCCAGGACGTCAGTATTTTAACAGGTTCTAAGTGCCTTTCTATCGTAGCTTATGTTTTCCTCCTCTTGGCTCCATTGCTGTTAGCATAGAGTTTTAAAAAAAGAGATAAGCTAATGACTATAACAATATATTCCTCCATGGGAGAGGAAGTTTATAAAGAAACAATAAAAGTGAGTTGCAAAGATGGCTTGTATGTCGTGGATGTGCCAGGAACCCGGCCCTGACATGAGGC... | GACGAGCTCAGCATGCGACTCGGTGACGGACCAGGCTCGGCAGGGCCGGTGTACTTTTTGTGGTTGTCATTGGTGTGTTGTTGCACATTCCAGGACGTCAGTATTTTAACAGGTTCTAAGTGCCTTTCTATCGTAGCTTATGTTTTCCTCCTCTTGGCTCCATTGCTGTTAGCATAGAGTTTTAAAAAAAGAGATAAGCTAATGACTATAACAATATATTCCTCCATGGGAGAGGAAGTTTATAAAGAAACAATAAAAGTGAGTTGCAAAGATGGCTTGTATGTCGTGGATGTGCCAGGAACCCGGCCCTGACATGAGGC... |
Task1_train_22299 | With a mutation on Chromosome 16 in gene ALG1 (ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; ALG1-congenital disorder of glycosylation | GTTTCCCGTGCCGTTCTCGTGATAGTGAATAAGCCTCACGAGACCTGATTGTTTTATAAAAAGGAGTTTTCCTGCAGAAGCTCTCTTTTTGCCTGCTGCCATCTATGTAAGAGGTGACTTGCTCCTCCTTGCCTTCTGCCATGATGGTGAGGCCTTCCCAGCCATGTGGACCTGTAAGTCCATGAAACCTCTTTCTTATGTAAAGTGCTCAGTCTCGGGTATGTCTTTATCAGCAGCATGAAAACGGACTAATACAGGCCATCGCAGAGACACACATTAAACTCTCACTATGGCTACTTTGGGAGGTGAAATTGGAGGGT... | GTTTCCCGTGCCGTTCTCGTGATAGTGAATAAGCCTCACGAGACCTGATTGTTTTATAAAAAGGAGTTTTCCTGCAGAAGCTCTCTTTTTGCCTGCTGCCATCTATGTAAGAGGTGACTTGCTCCTCCTTGCCTTCTGCCATGATGGTGAGGCCTTCCCAGCCATGTGGACCTGTAAGTCCATGAAACCTCTTTCTTATGTAAAGTGCTCAGTCTCGGGTATGTCTTTATCAGCAGCATGAAAACGGACTAATACAGGCCATCGCAGAGACACACATTAAACTCTCACTATGGCTACTTTGGGAGGTGAAATTGGAGGGT... |
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