question stringlengths 84 268 | answer stringlengths 6 879 | reference_sequence stringlengths 4.1k 4.1k | mutated_sequence stringlengths 4.1k 4.1k | cleaned_pathogenicity stringclasses 2
values | __index_level_0__ int64 67 343k |
|---|---|---|---|---|---|
Regarding the variant found on chromosome 1 at position 17044848 in gene SDHB (succinate dehydrogenase complex iron sulfur subunit B): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Gastrointestinal_stromal_tumor', 'Hereditary_cancer-predisposing_syndrome', 'Paragangliomas_4', 'Pheochromocytoma'] | CAGTTTTAGCCACATTCTCTGACATTCTCTAAGTTTTGATTTGCAACGTCTTTATTTTCTAAGTATCTGGCAATATTTTTTACGTGTTCCTGATCAAATAGTTAGAAGTGTACTTTTTTTTAGTTTCTAAGCAGTAGGGTTTTTTGTTTTATGAGTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGTGATTCTCATGCCTCAGCCTCCCAAATAGCTGGGATCACAGGCACCTGCCACAACG... | CAGTTTTAGCCACATTCTCTGACATTCTCTAAGTTTTGATTTGCAACGTCTTTATTTTCTAAGTATCTGGCAATATTTTTTACGTGTTCCTGATCAAATAGTTAGAAGTGTACTTTTTTTTAGTTTCTAAGCAGTAGGGTTTTTTGTTTTATGAGTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGTGATTCTCATGCCTCAGCCTCCCAAATAGCTGGGATCACAGGCACCTGCCACAACG... | pathogenic | 4,303 |
Variant at chromosome position 17044872, chromosome 1, gene SDHB (succinate dehydrogenase complex iron sulfur subunit B): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Gastrointestinal_stromal_tumor', 'Hereditary_cancer-predisposing_syndrome', 'Hereditary_pheochromocytoma-paraganglioma', 'Paragangliomas_4', 'Pheochromocytoma'] | TTCTCTAAGTTTTGATTTGCAACGTCTTTATTTTCTAAGTATCTGGCAATATTTTTTACGTGTTCCTGATCAAATAGTTAGAAGTGTACTTTTTTTTAGTTTCTAAGCAGTAGGGTTTTTTGTTTTATGAGTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGTGATTCTCATGCCTCAGCCTCCCAAATAGCTGGGATCACAGGCACCTGCCACAACGCCCAGCTTATTTTTATATTTTAGT... | TTCTCTAAGTTTTGATTTGCAACGTCTTTATTTTCTAAGTATCTGGCAATATTTTTTACGTGTTCCTGATCAAATAGTTAGAAGTGTACTTTTTTTTAGTTTCTAAGCAGTAGGGTTTTTTGTTTTATGAGTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGTGATTCTCATGCCTCAGCCTCCCAAATAGCTGGGATCACAGGCACCTGCCACAACGCCCAGCTTATTTTTATATTTTAGT... | pathogenic | 4,307 |
For chromosome 1, position 17053948, gene SDHB: benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Gastrointestinal_stromal_tumor', 'Hereditary_cancer-predisposing_syndrome', 'Paragangliomas_4', 'Pheochromocytoma', 'SDHB-related_disorder'] | GGTGCGATTTCAGCTCACTGCACCCTCCACCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGTGTAGCTAGGATTATAGGCGCCCACCACCACGCCCAGCTAATTTTTTTTTTATTTTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCGGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCACCTTGGCCTCCCAAAGTGCTGGAATTACAGGCATGAGCCACTGCACCTGGCAAGATACACACTTTTAAGTAGGTAGTTCTTGTCCTAAAGGAGTTCATAGTCCAGATGAAGAAATAAGGCAACAC... | GGTGCGATTTCAGCTCACTGCACCCTCCACCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGTGTAGCTAGGATTATAGGCGCCCACCACCACGCCCAGCTAATTTTTTTTTTATTTTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCGGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCACCTTGGCCTCCCAAAGTGCTGGAATTACAGGCATGAGCCACTGCACCTGGCAAGATACACACTTTTAAGTAGGTAGTTCTTGTCCTAAAGGAGTTCATAGTCCAGATGAAGAAATAAGGCAACAC... | pathogenic | 4,322 |
Is chromosome 1, position 17053978, gene SDHB (succinate dehydrogenase complex iron sulfur subunit B) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Gastrointestinal_stromal_tumor', 'Paragangliomas_4', 'Pheochromocytoma'] | CTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGTGTAGCTAGGATTATAGGCGCCCACCACCACGCCCAGCTAATTTTTTTTTTATTTTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCGGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCACCTTGGCCTCCCAAAGTGCTGGAATTACAGGCATGAGCCACTGCACCTGGCAAGATACACACTTTTAAGTAGGTAGTTCTTGTCCTAAAGGAGTTCATAGTCCAGATGAAGAAATAAGGCAACACAAACAATAGTTAATATACTACAGTCAAATA... | CTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGTGTAGCTAGGATTATAGGCGCCCACCACCACGCCCAGCTAATTTTTTTTTTATTTTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCGGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCACCTTGGCCTCCCAAAGTGCTGGAATTACAGGCATGAGCCACTGCACCTGGCAAGATACACACTTTTAAGTAGGTAGTTCTTGTCCTAAAGGAGTTCATAGTCCAGATGAAGAAATAAGGCAACACAAACAATAGTTAATATACTACAGTCAAATA... | pathogenic | 4,331 |
Determine whether the variant at chromosome 1, position 17053998, in gene SDHB (succinate dehydrogenase complex iron sulfur subunit B) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_pheochromocytoma-paraganglioma'] | TCCTGCCTCAGCCTCCTGTGTAGCTAGGATTATAGGCGCCCACCACCACGCCCAGCTAATTTTTTTTTTATTTTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCGGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCACCTTGGCCTCCCAAAGTGCTGGAATTACAGGCATGAGCCACTGCACCTGGCAAGATACACACTTTTAAGTAGGTAGTTCTTGTCCTAAAGGAGTTCATAGTCCAGATGAAGAAATAAGGCAACACAAACAATAGTTAATATACTACAGTCAAATACTTACAGGCAGAATTGTGGT... | TCCTGCCTCAGCCTCCTGTGTAGCTAGGATTATAGGCGCCCACCACCACGCCCAGCTAATTTTTTTTTTATTTTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCGGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCACCTTGGCCTCCCAAAGTGCTGGAATTACAGGCATGAGCCACTGCACCTGGCAAGATACACACTTTTAAGTAGGTAGTTCTTGTCCTAAAGGAGTTCATAGTCCAGATGAAGAAATAAGGCAACACAAACAATAGTTAATATACTACAGTCAAATACTTACAGGCAGAATTGTGGT... | pathogenic | 4,340 |
Chromosome 1, position 17053999, gene SDHB (succinate dehydrogenase complex iron sulfur subunit B): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Paragangliomas_4'] | CCTGCCTCAGCCTCCTGTGTAGCTAGGATTATAGGCGCCCACCACCACGCCCAGCTAATTTTTTTTTTATTTTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCGGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCACCTTGGCCTCCCAAAGTGCTGGAATTACAGGCATGAGCCACTGCACCTGGCAAGATACACACTTTTAAGTAGGTAGTTCTTGTCCTAAAGGAGTTCATAGTCCAGATGAAGAAATAAGGCAACACAAACAATAGTTAATATACTACAGTCAAATACTTACAGGCAGAATTGTGGTT... | CCTGCCTCAGCCTCCTGTGTAGCTAGGATTATAGGCGCCCACCACCACGCCCAGCTAATTTTTTTTTTATTTTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCGGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCACCTTGGCCTCCCAAAGTGCTGGAATTACAGGCATGAGCCACTGCACCTGGCAAGATACACACTTTTAAGTAGGTAGTTCTTGTCCTAAAGGAGTTCATAGTCCAGATGAAGAAATAAGGCAACACAAACAATAGTTAATATACTACAGTCAAATACTTACAGGCAGAATTGTGGTT... | pathogenic | 4,343 |
Determine whether the variant at chromosome 1, position 19220813, in gene EMC1 is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Cerebellar_atrophy,_visual_impairment,_and_psychomotor_retardation%3B', 'Congenital_anomaly_of_kidney_and_urinary_tract'] | CTGGATCAGTCCTCAAGCCTCAGCTAAGGATGGATCCTATTTCTTCCCAGTGCAAAACACCAAATGTACCTATAAGGTGGAGTCGGCAAGGAGAGTTCCCCTCTTACTTTGAAGCAAGAGATGGAAAAAGTCAGAAAGATTTCTAGATAAAATTGAGAAACACAAAAGGCAAAGTAAAGTCAATTTAAACAGGCCTCACAAAAATCAGCCGGAATTCTTATTAAAAAAAACAAAACAGAACATTCATGGATGGGCAAAGAAAGGAAACAATGCAGACGCCTTTGGACTTCAAGAGAAAGCCCATCAGGAATCTCTGAGAG... | CTGGATCAGTCCTCAAGCCTCAGCTAAGGATGGATCCTATTTCTTCCCAGTGCAAAACACCAAATGTACCTATAAGGTGGAGTCGGCAAGGAGAGTTCCCCTCTTACTTTGAAGCAAGAGATGGAAAAAGTCAGAAAGATTTCTAGATAAAATTGAGAAACACAAAAGGCAAAGTAAAGTCAATTTAAACAGGCCTCACAAAAATCAGCCGGAATTCTTATTAAAAAAAACAAAACAGAACATTCATGGATGGGCAAAGAAAGGAAACAATGCAGACGCCTTTGGACTTCAAGAGAAAGCCCATCAGGAATCTCTGAGAG... | pathogenic | 4,472 |
Benign or pathogenic: chromosome 1, position 20648990, gene PINK1 variant? Disease(s) if pathogenic? | pathogenic; ['Autosomal_recessive_early-onset_Parkinson_disease_6'] | CCATCTCAGCTCACTGCAACCTCTGCTTCCCAGGTTCAAGCAATTCTCGTGCCTCCGCCTCCTGAGTAGCTAGGATTACAGGCAGGTGCCACCACGCCTAGCTAATTTTTGATTTTTTTTTTTTTTTTTTTTTGAGACTGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAATGGCATGATCTCGGCTCACTGCAAGCTCTACCTCCCAGGTTCACACCATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCACCACCACGCCCGGCTAATTTTTTTGTATTTTTAGTACAGACGGGGTTTCACCATG... | CCATCTCAGCTCACTGCAACCTCTGCTTCCCAGGTTCAAGCAATTCTCGTGCCTCCGCCTCCTGAGTAGCTAGGATTACAGGCAGGTGCCACCACGCCTAGCTAATTTTTGATTTTTTTTTTTTTTTTTTTTTGAGACTGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAATGGCATGATCTCGGCTCACTGCAAGCTCTACCTCCCAGGTTCACACCATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCACCACCACGCCCGGCTAATTTTTTTGTATTTTTAGTACAGACGGGGTTTCACCATG... | pathogenic | 4,565 |
Determine if the mutation at chromosome 1, position 20652604 in gene DDOST (dolichyl-diphosphooligosaccharide--protein glycosyltransferase non-catalytic subunit) is benign or pathogenic. If pathogenic, what disease(s) is associated? | benign | CACTTTGTTGGCCAACAGGCTCACAGAGAAGTGTTGTGTGGAAACAAAAATGAAGATGCTCTTTCTGGCTAACCTGGAGTGTGAAACGCTCTGCCAGGCAGCCCTCCTCCTCTGCTCATGGAGGGCAGCCCTGTGATGTCCCTGCATGGAGCTGGTGAATTACTAAAAGAACATGGCATCCTCTGTGTCGTGATGGTCTGTGAATGGTGAGGGTGGGAGTCAGGAGACAAGACAGCGCAGAGAGGGCTGGTTAGCCGGAAAAGGCCTCGGGCTTGGCAAATGGAAGAACTTGAGTGAGAGTTCAGTCTGCAGTCCTCTGC... | CACTTTGTTGGCCAACAGGCTCACAGAGAAGTGTTGTGTGGAAACAAAAATGAAGATGCTCTTTCTGGCTAACCTGGAGTGTGAAACGCTCTGCCAGGCAGCCCTCCTCCTCTGCTCATGGAGGGCAGCCCTGTGATGTCCCTGCATGGAGCTGGTGAATTACTAAAAGAACATGGCATCCTCTGTGTCGTGATGGTCTGTGAATGGTGAGGGTGGGAGTCAGGAGACAAGACAGCGCAGAGAGGGCTGGTTAGCCGGAAAAGGCCTCGGGCTTGGCAAATGGAAGAACTTGAGTGAGAGTTCAGTCTGCAGTCCTCTGC... | benign | 4,595 |
Is chromosome 1, position 20652814, gene DDOST (dolichyl-diphosphooligosaccharide--protein glycosyltransferase non-catalytic subunit) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | benign | GGGTGGGAGTCAGGAGACAAGACAGCGCAGAGAGGGCTGGTTAGCCGGAAAAGGCCTCGGGCTTGGCAAATGGAAGAACTTGAGTGAGAGTTCAGTCTGCAGTCCTCTGCTCACAGACATCTGAAAAGTGAATGGCCAAGCTGGTCTAGTAGATGAGGCTGGACTGAGGAGGGGTAGGCCTGCATCCACAGAGAGGATCCAGGCCAAGGCACTGGCTGTCAGTGGCAGAGTTTGGCTGTGACCTTTGCCCCTAACACGAGGAACTCGTTTGAAGGGGGCAGCGTAGCATGTCTGATTTGCCACCTGGATGAAGGCAGACA... | GGGTGGGAGTCAGGAGACAAGACAGCGCAGAGAGGGCTGGTTAGCCGGAAAAGGCCTCGGGCTTGGCAAATGGAAGAACTTGAGTGAGAGTTCAGTCTGCAGTCCTCTGCTCACAGACATCTGAAAAGTGAATGGCCAAGCTGGTCTAGTAGATGAGGCTGGACTGAGGAGGGGTAGGCCTGCATCCACAGAGAGGATCCAGGCCAAGGCACTGGCTGTCAGTGGCAGAGTTTGGCTGTGACCTTTGCCCCTAACACGAGGAACTCGTTTGAAGGGGGCAGCGTAGCATGTCTGATTTGCCACCTGGATGAAGGCAGACA... | benign | 4,596 |
Evaluate this variant at chromosome 1, position 21554098, gene ALPL (alkaline phosphatase, biomineralization associated): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Adult_hypophosphatasia', 'Hypophosphatasia', 'Infantile_hypophosphatasia'] | AAGATCCTTCTTCTGGTGGTAGTGGTTTCTTTTTCTCCCTTCCCTTCCCTTCCCTTTCCTCCCCTTCCCTTTCCTCCCTCCCCTCCCCTCCCCTCCCTCCTTCCTTTTCTCCTTTTCTTTTTCTCTATTTTTAAATTAAAAAAAAAAATCTTGGATGGGCGCGGCAGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCAGATCACCTGAGGTCGGGAGTTCGAGACCAGCCTGACCAACATGGACCCCATCTCTACTAAAAATACAAAATTGGCCGGGCATGGTGGCGCAAGCCTGTAATCCCAGCCAC... | AAGATCCTTCTTCTGGTGGTAGTGGTTTCTTTTTCTCCCTTCCCTTCCCTTCCCTTTCCTCCCCTTCCCTTTCCTCCCTCCCCTCCCCTCCCCTCCCTCCTTCCTTTTCTCCTTTTCTTTTTCTCTATTTTTAAATTAAAAAAAAAAATCTTGGATGGGCGCGGCAGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCAGATCACCTGAGGTCGGGAGTTCGAGACCAGCCTGACCAACATGGACCCCATCTCTACTAAAAATACAAAATTGGCCGGGCATGGTGGCGCAAGCCTGTAATCCCAGCCAC... | pathogenic | 4,654 |
Mutation at chromosome 1, position 21554123, within ALPL (alkaline phosphatase, biomineralization associated): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Hypophosphatasia', 'Infantile_hypophosphatasia'] | TTTCTTTTTCTCCCTTCCCTTCCCTTCCCTTTCCTCCCCTTCCCTTTCCTCCCTCCCCTCCCCTCCCCTCCCTCCTTCCTTTTCTCCTTTTCTTTTTCTCTATTTTTAAATTAAAAAAAAAAATCTTGGATGGGCGCGGCAGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCAGATCACCTGAGGTCGGGAGTTCGAGACCAGCCTGACCAACATGGACCCCATCTCTACTAAAAATACAAAATTGGCCGGGCATGGTGGCGCAAGCCTGTAATCCCAGCCACTCGGGAGGCTGAGGCAGGAAAATTG... | TTTCTTTTTCTCCCTTCCCTTCCCTTCCCTTTCCTCCCCTTCCCTTTCCTCCCTCCCCTCCCCTCCCCTCCCTCCTTCCTTTTCTCCTTTTCTTTTTCTCTATTTTTAAATTAAAAAAAAAAATCTTGGATGGGCGCGGCAGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCAGATCACCTGAGGTCGGGAGTTCGAGACCAGCCTGACCAACATGGACCCCATCTCTACTAAAAATACAAAATTGGCCGGGCATGGTGGCGCAAGCCTGTAATCCCAGCCACTCGGGAGGCTGAGGCAGGAAAATTG... | pathogenic | 4,655 |
Assess the variant on chromosome 1, position 21560691, impacting ALPL (alkaline phosphatase, biomineralization associated): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Adult_hypophosphatasia', 'Childhood_hypophosphatasia', 'Infantile_hypophosphatasia'] | TCTGAAATTGATGCCCTCAGCAGACACTTCCAGAAGAGAGAGGGTGGACCTGGGGCTGTCGGGATGAGGGTAGTGGGCTGAGGGATTGGGGTGGTGGTGACGTAAGGGGAGGCCTCTTGGGGAGGGGCGTGGGGTGTGCTTGGGTCCAAAGCTAGAGGTGCACTGCAGCACCCTGGCGGCTCCTCGCCTGTGCTCTGCGCCTATGCTAGGCTGGGGCAGAGCCACGGCGACGCGTGAGTTTCCGGTTCTCCCACTTGGGGCCCTAATCTCAGGCTCTCCATTTCCTAATGTGGAGGAGACACTGGTGCCCACCTGCCAAG... | TCTGAAATTGATGCCCTCAGCAGACACTTCCAGAAGAGAGAGGGTGGACCTGGGGCTGTCGGGATGAGGGTAGTGGGCTGAGGGATTGGGGTGGTGGTGACGTAAGGGGAGGCCTCTTGGGGAGGGGCGTGGGGTGTGCTTGGGTCCAAAGCTAGAGGTGCACTGCAGCACCCTGGCGGCTCCTCGCCTGTGCTCTGCGCCTATGCTAGGCTGGGGCAGAGCCACGGCGACGCGTGAGTTTCCGGTTCTCCCACTTGGGGCCCTAATCTCAGGCTCTCCATTTCCTAATGTGGAGGAGACACTGGTGCCCACCTGCCAAG... | pathogenic | 4,665 |
Gene mutation in ALPL (alkaline phosphatase, biomineralization associated) at chromosome 1, position 21561095—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Infantile_hypophosphatasia'] | TTCTTTACCCACGGCCACTCCGAGAGCCAGGCACGCGTCGGAGCTGGGCCAAAAGATGAGAATTGTGTCCCCAGCCCACGAACATGCTACACGGCCTTGGACAAGACCCTCCCATTCCTGATCTCTCCTCCCGTTCTGTGCAGTGGGAGGCCTTGAAAGAGGAAACCGCTAGGGAGCCTCCTCTCTAGGCTTCTGAGCAGATCTGATAGGGCCCTGGGACAGAGGGGAGCCCCGCAGACTCTGGGAGGGACTCCAGCTCCCATAGCCAGGGTCCTGGTCCAGCCCTGGAGACGGGATAATGGGGATGGGAGGCAACTTTT... | TTCTTTACCCACGGCCACTCCGAGAGCCAGGCACGCGTCGGAGCTGGGCCAAAAGATGAGAATTGTGTCCCCAGCCCACGAACATGCTACACGGCCTTGGACAAGACCCTCCCATTCCTGATCTCTCCTCCCGTTCTGTGCAGTGGGAGGCCTTGAAAGAGGAAACCGCTAGGGAGCCTCCTCTCTAGGCTTCTGAGCAGATCTGATAGGGCCCTGGGACAGAGGGGAGCCCCGCAGACTCTGGGAGGGACTCCAGCTCCCATAGCCAGGGTCCTGGTCCAGCCCTGGAGACGGGATAATGGGGATGGGAGGCAACTTTT... | pathogenic | 4,674 |
Is chromosome 1, position 21561138, gene ALPL (alkaline phosphatase, biomineralization associated) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Infantile_hypophosphatasia'] | CTGGGCCAAAAGATGAGAATTGTGTCCCCAGCCCACGAACATGCTACACGGCCTTGGACAAGACCCTCCCATTCCTGATCTCTCCTCCCGTTCTGTGCAGTGGGAGGCCTTGAAAGAGGAAACCGCTAGGGAGCCTCCTCTCTAGGCTTCTGAGCAGATCTGATAGGGCCCTGGGACAGAGGGGAGCCCCGCAGACTCTGGGAGGGACTCCAGCTCCCATAGCCAGGGTCCTGGTCCAGCCCTGGAGACGGGATAATGGGGATGGGAGGCAACTTTTGAGCCTCTCCTGTGGGTCAGGTGTGTCACTTGCCTTATCCGGC... | CTGGGCCAAAAGATGAGAATTGTGTCCCCAGCCCACGAACATGCTACACGGCCTTGGACAAGACCCTCCCATTCCTGATCTCTCCTCCCGTTCTGTGCAGTGGGAGGCCTTGAAAGAGGAAACCGCTAGGGAGCCTCCTCTCTAGGCTTCTGAGCAGATCTGATAGGGCCCTGGGACAGAGGGGAGCCCCGCAGACTCTGGGAGGGACTCCAGCTCCCATAGCCAGGGTCCTGGTCCAGCCCTGGAGACGGGATAATGGGGATGGGAGGCAACTTTTGAGCCTCTCCTGTGGGTCAGGTGTGTCACTTGCCTTATCCGGC... | pathogenic | 4,684 |
Gene ALPL (alkaline phosphatase, biomineralization associated) variant at chromosome position 21563169 on chromosome 1: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Adult_hypophosphatasia'] | CTGCCCGCATCCTCAAGGGTCAGCTCCACCACAACCCTGGGGAGGAGACCAGGCTGGAGATGGACAAGTTCCCCTTCGTGGCCCTCTCCAAGGTGAGCCCCATCCCCAAGCCCAGTTCAGGTCTGTATATCCAGTATCCAGGTCGAGCATCTGAACATGACAGCAGCCAGAGGTCCCCTGACCCCCTGAGCCCCCTCCATGCCCAAGCCCACTCCCCACCTGGAGCAGCCACTGCCCTGACTTCTGACACCATAGCATCACTGTACCTGCTTGCGGGTGTGTGTTTAGAGAGAGGGTCTTGCTCTGTTGCCCAGGCTGCA... | CTGCCCGCATCCTCAAGGGTCAGCTCCACCACAACCCTGGGGAGGAGACCAGGCTGGAGATGGACAAGTTCCCCTTCGTGGCCCTCTCCAAGGTGAGCCCCATCCCCAAGCCCAGTTCAGGTCTGTATATCCAGTATCCAGGTCGAGCATCTGAACATGACAGCAGCCAGAGGTCCCCTGACCCCCTGAGCCCCCTCCATGCCCAAGCCCACTCCCCACCTGGAGCAGCCACTGCCCTGACTTCTGACACCATAGCATCACTGTACCTGCTTGCGGGTGTGTGTTTAGAGAGAGGGTCTTGCTCTGTTGCCCAGGCTGCA... | pathogenic | 4,702 |
Regarding the variant found on chromosome 1 at position 21563195 in gene ALPL (alkaline phosphatase, biomineralization associated): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic | CACCACAACCCTGGGGAGGAGACCAGGCTGGAGATGGACAAGTTCCCCTTCGTGGCCCTCTCCAAGGTGAGCCCCATCCCCAAGCCCAGTTCAGGTCTGTATATCCAGTATCCAGGTCGAGCATCTGAACATGACAGCAGCCAGAGGTCCCCTGACCCCCTGAGCCCCCTCCATGCCCAAGCCCACTCCCCACCTGGAGCAGCCACTGCCCTGACTTCTGACACCATAGCATCACTGTACCTGCTTGCGGGTGTGTGTTTAGAGAGAGGGTCTTGCTCTGTTGCCCAGGCTGCAGTGCAGTGGTGCAGTCATAGCTCACT... | CACCACAACCCTGGGGAGGAGACCAGGCTGGAGATGGACAAGTTCCCCTTCGTGGCCCTCTCCAAGGTGAGCCCCATCCCCAAGCCCAGTTCAGGTCTGTATATCCAGTATCCAGGTCGAGCATCTGAACATGACAGCAGCCAGAGGTCCCCTGACCCCCTGAGCCCCCTCCATGCCCAAGCCCACTCCCCACCTGGAGCAGCCACTGCCCTGACTTCTGACACCATAGCATCACTGTACCTGCTTGCGGGTGTGTGTTTAGAGAGAGGGTCTTGCTCTGTTGCCCAGGCTGCAGTGCAGTGGTGCAGTCATAGCTCACT... | pathogenic | 4,705 |
Assess the variant on chromosome 1, position 21563203, impacting ALPL (alkaline phosphatase, biomineralization associated): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Infantile_hypophosphatasia'] | CCCTGGGGAGGAGACCAGGCTGGAGATGGACAAGTTCCCCTTCGTGGCCCTCTCCAAGGTGAGCCCCATCCCCAAGCCCAGTTCAGGTCTGTATATCCAGTATCCAGGTCGAGCATCTGAACATGACAGCAGCCAGAGGTCCCCTGACCCCCTGAGCCCCCTCCATGCCCAAGCCCACTCCCCACCTGGAGCAGCCACTGCCCTGACTTCTGACACCATAGCATCACTGTACCTGCTTGCGGGTGTGTGTTTAGAGAGAGGGTCTTGCTCTGTTGCCCAGGCTGCAGTGCAGTGGTGCAGTCATAGCTCACTGCAGCCTC... | CCCTGGGGAGGAGACCAGGCTGGAGATGGACAAGTTCCCCTTCGTGGCCCTCTCCAAGGTGAGCCCCATCCCCAAGCCCAGTTCAGGTCTGTATATCCAGTATCCAGGTCGAGCATCTGAACATGACAGCAGCCAGAGGTCCCCTGACCCCCTGAGCCCCCTCCATGCCCAAGCCCACTCCCCACCTGGAGCAGCCACTGCCCTGACTTCTGACACCATAGCATCACTGTACCTGCTTGCGGGTGTGTGTTTAGAGAGAGGGTCTTGCTCTGTTGCCCAGGCTGCAGTGCAGTGGTGCAGTCATAGCTCACTGCAGCCTC... | pathogenic | 4,706 |
A genetic variant at chromosome 1, position 21563212, affecting gene ALPL (alkaline phosphatase, biomineralization associated)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Adult_hypophosphatasia', 'Childhood_hypophosphatasia', 'Hypophosphatasia', 'Hypophosphatemia', 'Infantile_hypophosphatasia'] | GGAGACCAGGCTGGAGATGGACAAGTTCCCCTTCGTGGCCCTCTCCAAGGTGAGCCCCATCCCCAAGCCCAGTTCAGGTCTGTATATCCAGTATCCAGGTCGAGCATCTGAACATGACAGCAGCCAGAGGTCCCCTGACCCCCTGAGCCCCCTCCATGCCCAAGCCCACTCCCCACCTGGAGCAGCCACTGCCCTGACTTCTGACACCATAGCATCACTGTACCTGCTTGCGGGTGTGTGTTTAGAGAGAGGGTCTTGCTCTGTTGCCCAGGCTGCAGTGCAGTGGTGCAGTCATAGCTCACTGCAGCCTCCAACTCCTG... | GGAGACCAGGCTGGAGATGGACAAGTTCCCCTTCGTGGCCCTCTCCAAGGTGAGCCCCATCCCCAAGCCCAGTTCAGGTCTGTATATCCAGTATCCAGGTCGAGCATCTGAACATGACAGCAGCCAGAGGTCCCCTGACCCCCTGAGCCCCCTCCATGCCCAAGCCCACTCCCCACCTGGAGCAGCCACTGCCCTGACTTCTGACACCATAGCATCACTGTACCTGCTTGCGGGTGTGTGTTTAGAGAGAGGGTCTTGCTCTGTTGCCCAGGCTGCAGTGCAGTGGTGCAGTCATAGCTCACTGCAGCCTCCAACTCCTG... | pathogenic | 4,710 |
Is the genetic variant on chromosome 1, position 21563221, gene ALPL (alkaline phosphatase, biomineralization associated), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Hypophosphatasia'] | GCTGGAGATGGACAAGTTCCCCTTCGTGGCCCTCTCCAAGGTGAGCCCCATCCCCAAGCCCAGTTCAGGTCTGTATATCCAGTATCCAGGTCGAGCATCTGAACATGACAGCAGCCAGAGGTCCCCTGACCCCCTGAGCCCCCTCCATGCCCAAGCCCACTCCCCACCTGGAGCAGCCACTGCCCTGACTTCTGACACCATAGCATCACTGTACCTGCTTGCGGGTGTGTGTTTAGAGAGAGGGTCTTGCTCTGTTGCCCAGGCTGCAGTGCAGTGGTGCAGTCATAGCTCACTGCAGCCTCCAACTCCTGGGCTCAAGC... | GCTGGAGATGGACAAGTTCCCCTTCGTGGCCCTCTCCAAGGTGAGCCCCATCCCCAAGCCCAGTTCAGGTCTGTATATCCAGTATCCAGGTCGAGCATCTGAACATGACAGCAGCCAGAGGTCCCCTGACCCCCTGAGCCCCCTCCATGCCCAAGCCCACTCCCCACCTGGAGCAGCCACTGCCCTGACTTCTGACACCATAGCATCACTGTACCTGCTTGCGGGTGTGTGTTTAGAGAGAGGGTCTTGCTCTGTTGCCCAGGCTGCAGTGCAGTGGTGCAGTCATAGCTCACTGCAGCCTCCAACTCCTGGGCTCAAGC... | pathogenic | 4,713 |
The mutation in gene ALPL (alkaline phosphatase, biomineralization associated) at chromosome 1, position 21563236—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Infantile_hypophosphatasia'] | GTTCCCCTTCGTGGCCCTCTCCAAGGTGAGCCCCATCCCCAAGCCCAGTTCAGGTCTGTATATCCAGTATCCAGGTCGAGCATCTGAACATGACAGCAGCCAGAGGTCCCCTGACCCCCTGAGCCCCCTCCATGCCCAAGCCCACTCCCCACCTGGAGCAGCCACTGCCCTGACTTCTGACACCATAGCATCACTGTACCTGCTTGCGGGTGTGTGTTTAGAGAGAGGGTCTTGCTCTGTTGCCCAGGCTGCAGTGCAGTGGTGCAGTCATAGCTCACTGCAGCCTCCAACTCCTGGGCTCAAGCCATCCTCCCACGTTA... | GTTCCCCTTCGTGGCCCTCTCCAAGGTGAGCCCCATCCCCAAGCCCAGTTCAGGTCTGTATATCCAGTATCCAGGTCGAGCATCTGAACATGACAGCAGCCAGAGGTCCCCTGACCCCCTGAGCCCCCTCCATGCCCAAGCCCACTCCCCACCTGGAGCAGCCACTGCCCTGACTTCTGACACCATAGCATCACTGTACCTGCTTGCGGGTGTGTGTTTAGAGAGAGGGTCTTGCTCTGTTGCCCAGGCTGCAGTGCAGTGGTGCAGTCATAGCTCACTGCAGCCTCCAACTCCTGGGCTCAAGCCATCCTCCCACGTTA... | pathogenic | 4,715 |
Variant in gene ALPL (alkaline phosphatase, biomineralization associated), located at chromosome 1 position 21563291: benign or pathogenic? What disease(s) does it cause if pathogenic? | benign | CTGTATATCCAGTATCCAGGTCGAGCATCTGAACATGACAGCAGCCAGAGGTCCCCTGACCCCCTGAGCCCCCTCCATGCCCAAGCCCACTCCCCACCTGGAGCAGCCACTGCCCTGACTTCTGACACCATAGCATCACTGTACCTGCTTGCGGGTGTGTGTTTAGAGAGAGGGTCTTGCTCTGTTGCCCAGGCTGCAGTGCAGTGGTGCAGTCATAGCTCACTGCAGCCTCCAACTCCTGGGCTCAAGCCATCCTCCCACGTTAGCCTCCCGAGTAGCTGGGACTACAGGTGTGTACCACCACATATGGATAATTAGAG... | CTGTATATCCAGTATCCAGGTCGAGCATCTGAACATGACAGCAGCCAGAGGTCCCCTGACCCCCTGAGCCCCCTCCATGCCCAAGCCCACTCCCCACCTGGAGCAGCCACTGCCCTGACTTCTGACACCATAGCATCACTGTACCTGCTTGCGGGTGTGTGTTTAGAGAGAGGGTCTTGCTCTGTTGCCCAGGCTGCAGTGCAGTGGTGCAGTCATAGCTCACTGCAGCCTCCAACTCCTGGGCTCAAGCCATCCTCCCACGTTAGCCTCCCGAGTAGCTGGGACTACAGGTGTGTACCACCACATATGGATAATTAGAG... | benign | 4,719 |
Variant chromosome 1, position 21564047, gene ALPL (alkaline phosphatase, biomineralization associated): benign or pathogenic? Disease(s)? | pathogenic; ['Adult_hypophosphatasia'] | TCATTCTTTCCCGAGGCAGTTCGTGAAGTTAATTAGACTATAGGCATACCTCAGCTATACTTCGGGTTTGGTTCCAGGCCACTGTAATAAAGCAAATATTGCAATGAAGCAAGTCACACATTTTTTGGTTTCCCAGTGCATATAAAAGTTATGTTTGCACCCTACAGTAGTCTTTTAAGTGTGGGATAGCATTATGTCTAAAAAAATGTATATACCTTAATTTAAAAATATGCTATTGCTAAAAAACGCTAATGAAGTGAGCTCATGTTTTTGGAAAAAATGATGCTGATAGACTTGCTTGACACAGGGTTGCCACAGAT... | TCATTCTTTCCCGAGGCAGTTCGTGAAGTTAATTAGACTATAGGCATACCTCAGCTATACTTCGGGTTTGGTTCCAGGCCACTGTAATAAAGCAAATATTGCAATGAAGCAAGTCACACATTTTTTGGTTTCCCAGTGCATATAAAAGTTATGTTTGCACCCTACAGTAGTCTTTTAAGTGTGGGATAGCATTATGTCTAAAAAAATGTATATACCTTAATTTAAAAATATGCTATTGCTAAAAAACGCTAATGAAGTGAGCTCATGTTTTTGGAAAAAATGATGCTGATAGACTTGCTTGACACAGGGTTGCCACAGAT... | pathogenic | 4,725 |
The genetic variant at chromosome 1, position 21564085, affecting gene ALPL (alkaline phosphatase, biomineralization associated): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Adult_hypophosphatasia', 'Childhood_hypophosphatasia', 'Hypophosphatasia', 'Infantile_hypophosphatasia'] | TATAGGCATACCTCAGCTATACTTCGGGTTTGGTTCCAGGCCACTGTAATAAAGCAAATATTGCAATGAAGCAAGTCACACATTTTTTGGTTTCCCAGTGCATATAAAAGTTATGTTTGCACCCTACAGTAGTCTTTTAAGTGTGGGATAGCATTATGTCTAAAAAAATGTATATACCTTAATTTAAAAATATGCTATTGCTAAAAAACGCTAATGAAGTGAGCTCATGTTTTTGGAAAAAATGATGCTGATAGACTTGCTTGACACAGGGTTGCCACAGATCTTCAATTTGTAACAAACACAGTGTCTGTGGAGTACAC... | TATAGGCATACCTCAGCTATACTTCGGGTTTGGTTCCAGGCCACTGTAATAAAGCAAATATTGCAATGAAGCAAGTCACACATTTTTTGGTTTCCCAGTGCATATAAAAGTTATGTTTGCACCCTACAGTAGTCTTTTAAGTGTGGGATAGCATTATGTCTAAAAAAATGTATATACCTTAATTTAAAAATATGCTATTGCTAAAAAACGCTAATGAAGTGAGCTCATGTTTTTGGAAAAAATGATGCTGATAGACTTGCTTGACACAGGGTTGCCACAGATCTTCAATTTGTAACAAACACAGTGTCTGTGGAGTACAC... | pathogenic | 4,731 |
Determine whether the variant at chromosome 1, position 21564133, in gene ALPL (alkaline phosphatase, biomineralization associated) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Adult_hypophosphatasia', 'Hypophosphatasia'] | ATAAAGCAAATATTGCAATGAAGCAAGTCACACATTTTTTGGTTTCCCAGTGCATATAAAAGTTATGTTTGCACCCTACAGTAGTCTTTTAAGTGTGGGATAGCATTATGTCTAAAAAAATGTATATACCTTAATTTAAAAATATGCTATTGCTAAAAAACGCTAATGAAGTGAGCTCATGTTTTTGGAAAAAATGATGCTGATAGACTTGCTTGACACAGGGTTGCCACAGATCTTCAATTTGTAACAAACACAGTGTCTGTGGAGTACACTAAAATGAGGTGTGCCTGTACTGACCTAGGTTGTTCAAGGCAGTGTGC... | ATAAAGCAAATATTGCAATGAAGCAAGTCACACATTTTTTGGTTTCCCAGTGCATATAAAAGTTATGTTTGCACCCTACAGTAGTCTTTTAAGTGTGGGATAGCATTATGTCTAAAAAAATGTATATACCTTAATTTAAAAATATGCTATTGCTAAAAAACGCTAATGAAGTGAGCTCATGTTTTTGGAAAAAATGATGCTGATAGACTTGCTTGACACAGGGTTGCCACAGATCTTCAATTTGTAACAAACACAGTGTCTGTGGAGTACACTAAAATGAGGTGTGCCTGTACTGACCTAGGTTGTTCAAGGCAGTGTGC... | pathogenic | 4,743 |
Chromosome 1, position 21564148, gene ALPL (alkaline phosphatase, biomineralization associated): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Adult_hypophosphatasia', 'Childhood_hypophosphatasia', 'Infantile_hypophosphatasia'] | CAATGAAGCAAGTCACACATTTTTTGGTTTCCCAGTGCATATAAAAGTTATGTTTGCACCCTACAGTAGTCTTTTAAGTGTGGGATAGCATTATGTCTAAAAAAATGTATATACCTTAATTTAAAAATATGCTATTGCTAAAAAACGCTAATGAAGTGAGCTCATGTTTTTGGAAAAAATGATGCTGATAGACTTGCTTGACACAGGGTTGCCACAGATCTTCAATTTGTAACAAACACAGTGTCTGTGGAGTACACTAAAATGAGGTGTGCCTGTACTGACCTAGGTTGTTCAAGGCAGTGTGCACTGCCGGGTAGCTA... | CAATGAAGCAAGTCACACATTTTTTGGTTTCCCAGTGCATATAAAAGTTATGTTTGCACCCTACAGTAGTCTTTTAAGTGTGGGATAGCATTATGTCTAAAAAAATGTATATACCTTAATTTAAAAATATGCTATTGCTAAAAAACGCTAATGAAGTGAGCTCATGTTTTTGGAAAAAATGATGCTGATAGACTTGCTTGACACAGGGTTGCCACAGATCTTCAATTTGTAACAAACACAGTGTCTGTGGAGTACACTAAAATGAGGTGTGCCTGTACTGACCTAGGTTGTTCAAGGCAGTGTGCACTGCCGGGTAGCTA... | pathogenic | 4,747 |
Evaluate the clinical significance of the mutation at chromosome 1, position 21568105 in gene ALPL (alkaline phosphatase, biomineralization associated): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['ALPL-related_disorder', 'Adult_hypophosphatasia', 'Childhood_hypophosphatasia', 'Hypophosphatasia', 'Infantile_hypophosphatasia'] | CGTGACCTGGGGTCCCCTTCTCCTTCTTCTCCCAGCCCACCCTGCCCCCTGAGCTCCTGGCTGCAGCTGAGAGCAAGGACTCTGCCTCTCTGAACCACTTGTTTCCCCACTCCTTCTGGCAATAGAAATGCCTTCCAGTGGCAGCCACCCCCTGGGTGCTGGGGACTTCCCTGGGTGACTGCCTTTCCTCCTGTGATGGGTCTGTGGATGGATGTTAGTTGCATTTTATTTATTATTATTATTTTGAGACGGAGTCTCATTCTGTCTCTAAGGCTGGAGTGTAGTGGTGCGATCTTGGCTCACTGCAGCCTTCACCTCCC... | CGTGACCTGGGGTCCCCTTCTCCTTCTTCTCCCAGCCCACCCTGCCCCCTGAGCTCCTGGCTGCAGCTGAGAGCAAGGACTCTGCCTCTCTGAACCACTTGTTTCCCCACTCCTTCTGGCAATAGAAATGCCTTCCAGTGGCAGCCACCCCCTGGGTGCTGGGGACTTCCCTGGGTGACTGCCTTTCCTCCTGTGATGGGTCTGTGGATGGATGTTAGTTGCATTTTATTTATTATTATTATTTTGAGACGGAGTCTCATTCTGTCTCTAAGGCTGGAGTGTAGTGGTGCGATCTTGGCTCACTGCAGCCTTCACCTCCC... | pathogenic | 4,751 |
Is the variant located on chromosome 1 at position 21568111, gene ALPL (alkaline phosphatase, biomineralization associated), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Adult_hypophosphatasia', 'Infantile_hypophosphatasia'] | CTGGGGTCCCCTTCTCCTTCTTCTCCCAGCCCACCCTGCCCCCTGAGCTCCTGGCTGCAGCTGAGAGCAAGGACTCTGCCTCTCTGAACCACTTGTTTCCCCACTCCTTCTGGCAATAGAAATGCCTTCCAGTGGCAGCCACCCCCTGGGTGCTGGGGACTTCCCTGGGTGACTGCCTTTCCTCCTGTGATGGGTCTGTGGATGGATGTTAGTTGCATTTTATTTATTATTATTATTTTGAGACGGAGTCTCATTCTGTCTCTAAGGCTGGAGTGTAGTGGTGCGATCTTGGCTCACTGCAGCCTTCACCTCCCGGGTTC... | CTGGGGTCCCCTTCTCCTTCTTCTCCCAGCCCACCCTGCCCCCTGAGCTCCTGGCTGCAGCTGAGAGCAAGGACTCTGCCTCTCTGAACCACTTGTTTCCCCACTCCTTCTGGCAATAGAAATGCCTTCCAGTGGCAGCCACCCCCTGGGTGCTGGGGACTTCCCTGGGTGACTGCCTTTCCTCCTGTGATGGGTCTGTGGATGGATGTTAGTTGCATTTTATTTATTATTATTATTTTGAGACGGAGTCTCATTCTGTCTCTAAGGCTGGAGTGTAGTGGTGCGATCTTGGCTCACTGCAGCCTTCACCTCCCGGGTTC... | pathogenic | 4,754 |
Determine if the mutation at chromosome 1, position 21568111 in gene ALPL (alkaline phosphatase, biomineralization associated) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Adult_hypophosphatasia', 'Hypophosphatasia'] | CTGGGGTCCCCTTCTCCTTCTTCTCCCAGCCCACCCTGCCCCCTGAGCTCCTGGCTGCAGCTGAGAGCAAGGACTCTGCCTCTCTGAACCACTTGTTTCCCCACTCCTTCTGGCAATAGAAATGCCTTCCAGTGGCAGCCACCCCCTGGGTGCTGGGGACTTCCCTGGGTGACTGCCTTTCCTCCTGTGATGGGTCTGTGGATGGATGTTAGTTGCATTTTATTTATTATTATTATTTTGAGACGGAGTCTCATTCTGTCTCTAAGGCTGGAGTGTAGTGGTGCGATCTTGGCTCACTGCAGCCTTCACCTCCCGGGTTC... | CTGGGGTCCCCTTCTCCTTCTTCTCCCAGCCCACCCTGCCCCCTGAGCTCCTGGCTGCAGCTGAGAGCAAGGACTCTGCCTCTCTGAACCACTTGTTTCCCCACTCCTTCTGGCAATAGAAATGCCTTCCAGTGGCAGCCACCCCCTGGGTGCTGGGGACTTCCCTGGGTGACTGCCTTTCCTCCTGTGATGGGTCTGTGGATGGATGTTAGTTGCATTTTATTTATTATTATTATTTTGAGACGGAGTCTCATTCTGTCTCTAAGGCTGGAGTGTAGTGGTGCGATCTTGGCTCACTGCAGCCTTCACCTCCCGGGTTC... | pathogenic | 4,755 |
Mutation found at chromosome 1 position 21570324, gene ALPL (alkaline phosphatase, biomineralization associated): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Adult_hypophosphatasia', 'Hypophosphatasia'] | AGAGGTGGCCTGTGATGGGGAGAGGCTGTGTGACCCCTGCTCTGAAGTTCTGTTGTCCTCTGTAGAAAGGGCATCGGAAATCTTTCCTCCATGGGCTCAAATGGCCTAAGAGATATACAAGCAGTAGATAGTCAGTGACTAATCATTTCCTTCCCTTGGAGGGGATACCAGAGAGAGGCGGATGGTGAGGAGGAGGCTGGGCCAGGGAATAACCTGCGTGGACATTGAGTCACCCTGAGCACCTATTGTATGTAGGCACCTGGCGGGGCATGCGTGAGGCACAGAGGCTGAGTCAGATGGCCAAGGAAACATGGAATGCT... | AGAGGTGGCCTGTGATGGGGAGAGGCTGTGTGACCCCTGCTCTGAAGTTCTGTTGTCCTCTGTAGAAAGGGCATCGGAAATCTTTCCTCCATGGGCTCAAATGGCCTAAGAGATATACAAGCAGTAGATAGTCAGTGACTAATCATTTCCTTCCCTTGGAGGGGATACCAGAGAGAGGCGGATGGTGAGGAGGAGGCTGGGCCAGGGAATAACCTGCGTGGACATTGAGTCACCCTGAGCACCTATTGTATGTAGGCACCTGGCGGGGCATGCGTGAGGCACAGAGGCTGAGTCAGATGGCCAAGGAAACATGGAATGCT... | pathogenic | 4,775 |
Does the variant on chromosome 1 at location 21570348 affecting gene ALPL (alkaline phosphatase, biomineralization associated) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Infantile_hypophosphatasia'] | GCTGTGTGACCCCTGCTCTGAAGTTCTGTTGTCCTCTGTAGAAAGGGCATCGGAAATCTTTCCTCCATGGGCTCAAATGGCCTAAGAGATATACAAGCAGTAGATAGTCAGTGACTAATCATTTCCTTCCCTTGGAGGGGATACCAGAGAGAGGCGGATGGTGAGGAGGAGGCTGGGCCAGGGAATAACCTGCGTGGACATTGAGTCACCCTGAGCACCTATTGTATGTAGGCACCTGGCGGGGCATGCGTGAGGCACAGAGGCTGAGTCAGATGGCCAAGGAAACATGGAATGCTGTGTGCCTGCATGGGGGACGCCTG... | GCTGTGTGACCCCTGCTCTGAAGTTCTGTTGTCCTCTGTAGAAAGGGCATCGGAAATCTTTCCTCCATGGGCTCAAATGGCCTAAGAGATATACAAGCAGTAGATAGTCAGTGACTAATCATTTCCTTCCCTTGGAGGGGATACCAGAGAGAGGCGGATGGTGAGGAGGAGGCTGGGCCAGGGAATAACCTGCGTGGACATTGAGTCACCCTGAGCACCTATTGTATGTAGGCACCTGGCGGGGCATGCGTGAGGCACAGAGGCTGAGTCAGATGGCCAAGGAAACATGGAATGCTGTGTGCCTGCATGGGGGACGCCTG... | pathogenic | 4,780 |
Mutation at chromosome 1, position 21573677, within ALPL (alkaline phosphatase, biomineralization associated): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Adult_hypophosphatasia', 'Childhood_hypophosphatasia', 'Infantile_hypophosphatasia'] | ACCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCCGTCTAAAAACAAAAAACAAAGAACAAACACGAAAAAACTTAGGCCAGGTGCAATGGCTCGCGCCTGTAATCCTAGCACTTTGGGAGGCCAAGGCAGGTTGATCACTTGAGCCCAGGAGTTTGAGACCAGCCTGGGAAACATAGCGAGACCTCAATTCTACAAAAATTTTTTAAAAACTGGCCAGGTGTGGTGGCGCACACCTTTAGTCCCAGCTACTCAGGAGGCTGAGGTAGGAGGATCCACCTGAGCCCAGGAGGTTGAGGCTGCAGTGAGTTGTGATTA... | ACCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCCGTCTAAAAACAAAAAACAAAGAACAAACACGAAAAAACTTAGGCCAGGTGCAATGGCTCGCGCCTGTAATCCTAGCACTTTGGGAGGCCAAGGCAGGTTGATCACTTGAGCCCAGGAGTTTGAGACCAGCCTGGGAAACATAGCGAGACCTCAATTCTACAAAAATTTTTTAAAAACTGGCCAGGTGTGGTGGCGCACACCTTTAGTCCCAGCTACTCAGGAGGCTGAGGTAGGAGGATCCACCTGAGCCCAGGAGGTTGAGGCTGCAGTGAGTTGTGATTA... | pathogenic | 4,798 |
Is the chromosome 1, position 21573703 variant in ALPL (alkaline phosphatase, biomineralization associated) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Infantile_hypophosphatasia'] | GAGCAAGACTCCGTCTAAAAACAAAAAACAAAGAACAAACACGAAAAAACTTAGGCCAGGTGCAATGGCTCGCGCCTGTAATCCTAGCACTTTGGGAGGCCAAGGCAGGTTGATCACTTGAGCCCAGGAGTTTGAGACCAGCCTGGGAAACATAGCGAGACCTCAATTCTACAAAAATTTTTTAAAAACTGGCCAGGTGTGGTGGCGCACACCTTTAGTCCCAGCTACTCAGGAGGCTGAGGTAGGAGGATCCACCTGAGCCCAGGAGGTTGAGGCTGCAGTGAGTTGTGATTATGCCACTGCACTCCAGCCTGGGTGAC... | GAGCAAGACTCCGTCTAAAAACAAAAAACAAAGAACAAACACGAAAAAACTTAGGCCAGGTGCAATGGCTCGCGCCTGTAATCCTAGCACTTTGGGAGGCCAAGGCAGGTTGATCACTTGAGCCCAGGAGTTTGAGACCAGCCTGGGAAACATAGCGAGACCTCAATTCTACAAAAATTTTTTAAAAACTGGCCAGGTGTGGTGGCGCACACCTTTAGTCCCAGCTACTCAGGAGGCTGAGGTAGGAGGATCCACCTGAGCCCAGGAGGTTGAGGCTGCAGTGAGTTGTGATTATGCCACTGCACTCCAGCCTGGGTGAC... | pathogenic | 4,804 |
Mutation at chromosome 1, position 21573726, within ALPL (alkaline phosphatase, biomineralization associated): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Adult_hypophosphatasia', 'Infantile_hypophosphatasia'] | AAAAACAAAGAACAAACACGAAAAAACTTAGGCCAGGTGCAATGGCTCGCGCCTGTAATCCTAGCACTTTGGGAGGCCAAGGCAGGTTGATCACTTGAGCCCAGGAGTTTGAGACCAGCCTGGGAAACATAGCGAGACCTCAATTCTACAAAAATTTTTTAAAAACTGGCCAGGTGTGGTGGCGCACACCTTTAGTCCCAGCTACTCAGGAGGCTGAGGTAGGAGGATCCACCTGAGCCCAGGAGGTTGAGGCTGCAGTGAGTTGTGATTATGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACCCTATCTTAAAAA... | AAAAACAAAGAACAAACACGAAAAAACTTAGGCCAGGTGCAATGGCTCGCGCCTGTAATCCTAGCACTTTGGGAGGCCAAGGCAGGTTGATCACTTGAGCCCAGGAGTTTGAGACCAGCCTGGGAAACATAGCGAGACCTCAATTCTACAAAAATTTTTTAAAAACTGGCCAGGTGTGGTGGCGCACACCTTTAGTCCCAGCTACTCAGGAGGCTGAGGTAGGAGGATCCACCTGAGCCCAGGAGGTTGAGGCTGCAGTGAGTTGTGATTATGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACCCTATCTTAAAAA... | pathogenic | 4,806 |
Assess the variant on chromosome 1, position 21573763, impacting ALPL (alkaline phosphatase, biomineralization associated): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Adult_hypophosphatasia', 'Infantile_hypophosphatasia'] | TGCAATGGCTCGCGCCTGTAATCCTAGCACTTTGGGAGGCCAAGGCAGGTTGATCACTTGAGCCCAGGAGTTTGAGACCAGCCTGGGAAACATAGCGAGACCTCAATTCTACAAAAATTTTTTAAAAACTGGCCAGGTGTGGTGGCGCACACCTTTAGTCCCAGCTACTCAGGAGGCTGAGGTAGGAGGATCCACCTGAGCCCAGGAGGTTGAGGCTGCAGTGAGTTGTGATTATGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACCCTATCTTAAAAAAAAGAAAGAAAGAAAACATTAGCCAGGTGTGGTGGTG... | TGCAATGGCTCGCGCCTGTAATCCTAGCACTTTGGGAGGCCAAGGCAGGTTGATCACTTGAGCCCAGGAGTTTGAGACCAGCCTGGGAAACATAGCGAGACCTCAATTCTACAAAAATTTTTTAAAAACTGGCCAGGTGTGGTGGCGCACACCTTTAGTCCCAGCTACTCAGGAGGCTGAGGTAGGAGGATCCACCTGAGCCCAGGAGGTTGAGGCTGCAGTGAGTTGTGATTATGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACCCTATCTTAAAAAAAAGAAAGAAAGAAAACATTAGCCAGGTGTGGTGGTG... | pathogenic | 4,808 |
Chromosome 1, position 21573779, gene ALPL (alkaline phosphatase, biomineralization associated): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Adult_hypophosphatasia', 'Childhood_hypophosphatasia', 'Hypophosphatasia', 'Inborn_genetic_diseases', 'Infantile_hypophosphatasia', 'Osteogenesis_imperfecta', 'likely other unspecified diseases'] | TGTAATCCTAGCACTTTGGGAGGCCAAGGCAGGTTGATCACTTGAGCCCAGGAGTTTGAGACCAGCCTGGGAAACATAGCGAGACCTCAATTCTACAAAAATTTTTTAAAAACTGGCCAGGTGTGGTGGCGCACACCTTTAGTCCCAGCTACTCAGGAGGCTGAGGTAGGAGGATCCACCTGAGCCCAGGAGGTTGAGGCTGCAGTGAGTTGTGATTATGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACCCTATCTTAAAAAAAAGAAAGAAAGAAAACATTAGCCAGGTGTGGTGGTGCCAGCCACTCAGGAAG... | TGTAATCCTAGCACTTTGGGAGGCCAAGGCAGGTTGATCACTTGAGCCCAGGAGTTTGAGACCAGCCTGGGAAACATAGCGAGACCTCAATTCTACAAAAATTTTTTAAAAACTGGCCAGGTGTGGTGGCGCACACCTTTAGTCCCAGCTACTCAGGAGGCTGAGGTAGGAGGATCCACCTGAGCCCAGGAGGTTGAGGCTGCAGTGAGTTGTGATTATGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACCCTATCTTAAAAAAAAGAAAGAAAGAAAACATTAGCCAGGTGTGGTGGTGCCAGCCACTCAGGAAG... | pathogenic | 4,811 |
Determine whether the variant at chromosome 1, position 21575749, in gene ALPL (alkaline phosphatase, biomineralization associated) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Adult_hypophosphatasia', 'Childhood_hypophosphatasia', 'Hypophosphatasia', 'Infantile_hypophosphatasia'] | ACAGGAACAACGTGACGGACCCGTCACTCTCCGAGATGGTGGTGGTGGCCATCCAGATCCTGCGGAAGAACCCCAAAGGCTTCTTCTTGCTGGTGGAAGGTAGGGACCCCGGGTCTGCTGAGAGGGGGCTGCTGGAAACACGGCCCTGGTGTCAGGATGGAGAAGTCCAGCTCTTAAAGGGAACTGACTGGTTTGGGGGTGAAGGGAGAGGTCCCTTTAGGAGAATAGGTTGTGGAAGGAGACGGGTGGCACTGTAGACACTCCCAGCCCAGCAAGCTGCTCTCCTTTGGGCATGGAGATGCAAGTTAGGTTCAGCAATC... | ACAGGAACAACGTGACGGACCCGTCACTCTCCGAGATGGTGGTGGTGGCCATCCAGATCCTGCGGAAGAACCCCAAAGGCTTCTTCTTGCTGGTGGAAGGTAGGGACCCCGGGTCTGCTGAGAGGGGGCTGCTGGAAACACGGCCCTGGTGTCAGGATGGAGAAGTCCAGCTCTTAAAGGGAACTGACTGGTTTGGGGGTGAAGGGAGAGGTCCCTTTAGGAGAATAGGTTGTGGAAGGAGACGGGTGGCACTGTAGACACTCCCAGCCCAGCAAGCTGCTCTCCTTTGGGCATGGAGATGCAAGTTAGGTTCAGCAATC... | pathogenic | 4,829 |
Determine whether the variant at chromosome 1, position 21575813, in gene ALPL (alkaline phosphatase, biomineralization associated) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Adult_hypophosphatasia', 'Hypophosphatasia', 'Infantile_hypophosphatasia'] | GAAGAACCCCAAAGGCTTCTTCTTGCTGGTGGAAGGTAGGGACCCCGGGTCTGCTGAGAGGGGGCTGCTGGAAACACGGCCCTGGTGTCAGGATGGAGAAGTCCAGCTCTTAAAGGGAACTGACTGGTTTGGGGGTGAAGGGAGAGGTCCCTTTAGGAGAATAGGTTGTGGAAGGAGACGGGTGGCACTGTAGACACTCCCAGCCCAGCAAGCTGCTCTCCTTTGGGCATGGAGATGCAAGTTAGGTTCAGCAATCCAGGAAGGCTTCCTGGGAGAGGAGGCAGATTTCTCCCCTTTGGTAGTCTTTCTTGGGGACCTGG... | GAAGAACCCCAAAGGCTTCTTCTTGCTGGTGGAAGGTAGGGACCCCGGGTCTGCTGAGAGGGGGCTGCTGGAAACACGGCCCTGGTGTCAGGATGGAGAAGTCCAGCTCTTAAAGGGAACTGACTGGTTTGGGGGTGAAGGGAGAGGTCCCTTTAGGAGAATAGGTTGTGGAAGGAGACGGGTGGCACTGTAGACACTCCCAGCCCAGCAAGCTGCTCTCCTTTGGGCATGGAGATGCAAGTTAGGTTCAGCAATCCAGGAAGGCTTCCTGGGAGAGGAGGCAGATTTCTCCCCTTTGGTAGTCTTTCTTGGGGACCTGG... | pathogenic | 4,839 |
Evaluate the clinical significance of the mutation at chromosome 1, position 21575831 in gene ALPL (alkaline phosphatase, biomineralization associated): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Adult_hypophosphatasia', 'Hypophosphatasia', 'Infantile_hypophosphatasia'] | CTTCTTGCTGGTGGAAGGTAGGGACCCCGGGTCTGCTGAGAGGGGGCTGCTGGAAACACGGCCCTGGTGTCAGGATGGAGAAGTCCAGCTCTTAAAGGGAACTGACTGGTTTGGGGGTGAAGGGAGAGGTCCCTTTAGGAGAATAGGTTGTGGAAGGAGACGGGTGGCACTGTAGACACTCCCAGCCCAGCAAGCTGCTCTCCTTTGGGCATGGAGATGCAAGTTAGGTTCAGCAATCCAGGAAGGCTTCCTGGGAGAGGAGGCAGATTTCTCCCCTTTGGTAGTCTTTCTTGGGGACCTGGCCCTGAAGGGGCAAGCAG... | CTTCTTGCTGGTGGAAGGTAGGGACCCCGGGTCTGCTGAGAGGGGGCTGCTGGAAACACGGCCCTGGTGTCAGGATGGAGAAGTCCAGCTCTTAAAGGGAACTGACTGGTTTGGGGGTGAAGGGAGAGGTCCCTTTAGGAGAATAGGTTGTGGAAGGAGACGGGTGGCACTGTAGACACTCCCAGCCCAGCAAGCTGCTCTCCTTTGGGCATGGAGATGCAAGTTAGGTTCAGCAATCCAGGAAGGCTTCCTGGGAGAGGAGGCAGATTTCTCCCCTTTGGTAGTCTTTCTTGGGGACCTGGCCCTGAAGGGGCAAGCAG... | pathogenic | 4,840 |
Variant in ALPL (alkaline phosphatase, biomineralization associated), chromosome 1, position 21575846—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Adult_hypophosphatasia', 'Childhood_hypophosphatasia', 'Decreased_circulating_alkaline_phosphatase_activity', 'Infantile_hypophosphatasia'] | AGGTAGGGACCCCGGGTCTGCTGAGAGGGGGCTGCTGGAAACACGGCCCTGGTGTCAGGATGGAGAAGTCCAGCTCTTAAAGGGAACTGACTGGTTTGGGGGTGAAGGGAGAGGTCCCTTTAGGAGAATAGGTTGTGGAAGGAGACGGGTGGCACTGTAGACACTCCCAGCCCAGCAAGCTGCTCTCCTTTGGGCATGGAGATGCAAGTTAGGTTCAGCAATCCAGGAAGGCTTCCTGGGAGAGGAGGCAGATTTCTCCCCTTTGGTAGTCTTTCTTGGGGACCTGGCCCTGAAGGGGCAAGCAGCCCCTCAGCCTCACT... | AGGTAGGGACCCCGGGTCTGCTGAGAGGGGGCTGCTGGAAACACGGCCCTGGTGTCAGGATGGAGAAGTCCAGCTCTTAAAGGGAACTGACTGGTTTGGGGGTGAAGGGAGAGGTCCCTTTAGGAGAATAGGTTGTGGAAGGAGACGGGTGGCACTGTAGACACTCCCAGCCCAGCAAGCTGCTCTCCTTTGGGCATGGAGATGCAAGTTAGGTTCAGCAATCCAGGAAGGCTTCCTGGGAGAGGAGGCAGATTTCTCCCCTTTGGTAGTCTTTCTTGGGGACCTGGCCCTGAAGGGGCAAGCAGCCCCTCAGCCTCACT... | pathogenic | 4,841 |
Evaluate if the mutation on chromosome 1 at position 21575900 in ALPL (alkaline phosphatase, biomineralization associated) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Adult_hypophosphatasia', 'Childhood_hypophosphatasia', 'Infantile_hypophosphatasia'] | TCAGGATGGAGAAGTCCAGCTCTTAAAGGGAACTGACTGGTTTGGGGGTGAAGGGAGAGGTCCCTTTAGGAGAATAGGTTGTGGAAGGAGACGGGTGGCACTGTAGACACTCCCAGCCCAGCAAGCTGCTCTCCTTTGGGCATGGAGATGCAAGTTAGGTTCAGCAATCCAGGAAGGCTTCCTGGGAGAGGAGGCAGATTTCTCCCCTTTGGTAGTCTTTCTTGGGGACCTGGCCCTGAAGGGGCAAGCAGCCCCTCAGCCTCACTGCCCAGAAAAGCAAATCCGCAGGCCCCGGCTTTCCCACGCTGTGTGCTGATGTT... | TCAGGATGGAGAAGTCCAGCTCTTAAAGGGAACTGACTGGTTTGGGGGTGAAGGGAGAGGTCCCTTTAGGAGAATAGGTTGTGGAAGGAGACGGGTGGCACTGTAGACACTCCCAGCCCAGCAAGCTGCTCTCCTTTGGGCATGGAGATGCAAGTTAGGTTCAGCAATCCAGGAAGGCTTCCTGGGAGAGGAGGCAGATTTCTCCCCTTTGGTAGTCTTTCTTGGGGACCTGGCCCTGAAGGGGCAAGCAGCCCCTCAGCCTCACTGCCCAGAAAAGCAAATCCGCAGGCCCCGGCTTTCCCACGCTGTGTGCTGATGTT... | pathogenic | 4,853 |
Variant at chromosome position 21575900, chromosome 1, gene ALPL (alkaline phosphatase, biomineralization associated): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Adult_hypophosphatasia', 'Childhood_hypophosphatasia', 'Hypophosphatasia', 'Infantile_hypophosphatasia'] | TCAGGATGGAGAAGTCCAGCTCTTAAAGGGAACTGACTGGTTTGGGGGTGAAGGGAGAGGTCCCTTTAGGAGAATAGGTTGTGGAAGGAGACGGGTGGCACTGTAGACACTCCCAGCCCAGCAAGCTGCTCTCCTTTGGGCATGGAGATGCAAGTTAGGTTCAGCAATCCAGGAAGGCTTCCTGGGAGAGGAGGCAGATTTCTCCCCTTTGGTAGTCTTTCTTGGGGACCTGGCCCTGAAGGGGCAAGCAGCCCCTCAGCCTCACTGCCCAGAAAAGCAAATCCGCAGGCCCCGGCTTTCCCACGCTGTGTGCTGATGTT... | TCAGGATGGAGAAGTCCAGCTCTTAAAGGGAACTGACTGGTTTGGGGGTGAAGGGAGAGGTCCCTTTAGGAGAATAGGTTGTGGAAGGAGACGGGTGGCACTGTAGACACTCCCAGCCCAGCAAGCTGCTCTCCTTTGGGCATGGAGATGCAAGTTAGGTTCAGCAATCCAGGAAGGCTTCCTGGGAGAGGAGGCAGATTTCTCCCCTTTGGTAGTCTTTCTTGGGGACCTGGCCCTGAAGGGGCAAGCAGCCCCTCAGCCTCACTGCCCAGAAAAGCAAATCCGCAGGCCCCGGCTTTCCCACGCTGTGTGCTGATGTT... | pathogenic | 4,854 |
Considering the genetic mutation at chromosome 1, position 21575913, impacting ALPL (alkaline phosphatase, biomineralization associated): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Adult_hypophosphatasia', 'Childhood_hypophosphatasia', 'Hypophosphatasia', 'Infantile_hypophosphatasia'] | GTCCAGCTCTTAAAGGGAACTGACTGGTTTGGGGGTGAAGGGAGAGGTCCCTTTAGGAGAATAGGTTGTGGAAGGAGACGGGTGGCACTGTAGACACTCCCAGCCCAGCAAGCTGCTCTCCTTTGGGCATGGAGATGCAAGTTAGGTTCAGCAATCCAGGAAGGCTTCCTGGGAGAGGAGGCAGATTTCTCCCCTTTGGTAGTCTTTCTTGGGGACCTGGCCCTGAAGGGGCAAGCAGCCCCTCAGCCTCACTGCCCAGAAAAGCAAATCCGCAGGCCCCGGCTTTCCCACGCTGTGTGCTGATGTTCCCAGGCTCTTTC... | GTCCAGCTCTTAAAGGGAACTGACTGGTTTGGGGGTGAAGGGAGAGGTCCCTTTAGGAGAATAGGTTGTGGAAGGAGACGGGTGGCACTGTAGACACTCCCAGCCCAGCAAGCTGCTCTCCTTTGGGCATGGAGATGCAAGTTAGGTTCAGCAATCCAGGAAGGCTTCCTGGGAGAGGAGGCAGATTTCTCCCCTTTGGTAGTCTTTCTTGGGGACCTGGCCCTGAAGGGGCAAGCAGCCCCTCAGCCTCACTGCCCAGAAAAGCAAATCCGCAGGCCCCGGCTTTCCCACGCTGTGTGCTGATGTTCCCAGGCTCTTTC... | pathogenic | 4,858 |
Regarding the variant found on chromosome 1 at position 21575916 in gene ALPL (alkaline phosphatase, biomineralization associated): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Adult_hypophosphatasia', 'Childhood_hypophosphatasia', 'Hypophosphatasia'] | CAGCTCTTAAAGGGAACTGACTGGTTTGGGGGTGAAGGGAGAGGTCCCTTTAGGAGAATAGGTTGTGGAAGGAGACGGGTGGCACTGTAGACACTCCCAGCCCAGCAAGCTGCTCTCCTTTGGGCATGGAGATGCAAGTTAGGTTCAGCAATCCAGGAAGGCTTCCTGGGAGAGGAGGCAGATTTCTCCCCTTTGGTAGTCTTTCTTGGGGACCTGGCCCTGAAGGGGCAAGCAGCCCCTCAGCCTCACTGCCCAGAAAAGCAAATCCGCAGGCCCCGGCTTTCCCACGCTGTGTGCTGATGTTCCCAGGCTCTTTCAGC... | CAGCTCTTAAAGGGAACTGACTGGTTTGGGGGTGAAGGGAGAGGTCCCTTTAGGAGAATAGGTTGTGGAAGGAGACGGGTGGCACTGTAGACACTCCCAGCCCAGCAAGCTGCTCTCCTTTGGGCATGGAGATGCAAGTTAGGTTCAGCAATCCAGGAAGGCTTCCTGGGAGAGGAGGCAGATTTCTCCCCTTTGGTAGTCTTTCTTGGGGACCTGGCCCTGAAGGGGCAAGCAGCCCCTCAGCCTCACTGCCCAGAAAAGCAAATCCGCAGGCCCCGGCTTTCCCACGCTGTGTGCTGATGTTCCCAGGCTCTTTCAGC... | pathogenic | 4,859 |
Is the genetic variant on chromosome 1, position 21577543, gene ALPL (alkaline phosphatase, biomineralization associated), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['ALPL-related_disorder', 'Adult_hypophosphatasia', 'Hypophosphatasia'] | GGACTTTGCAGCCCCCATGCATGTGCCTTTGGCACCGGGGCTGTCCCTCTCTGGCCTCCGTCAGGTTGAATGGCTGCGTAAAATGCCTAGGCTGTGGTGCTAGCTCAGAGTGGTGCCCGGCGAAGGTTCCTGTCCTTCCCTAGCTAACAAAGGTTAATCCAGCAGCAGTGTTGTGGGGCTGGGGAGCAGATCTTCCTCCCCTCCTCCCTCACCGAGGCCTTTGCCTTGGTGTCCCAAGGAGGCAGAATTGACCACGGGCACCATGAAGGAAAAGCCAAGCAGGCCCTGCATGAGGCGGTGGAGATGGACCGGGCCATCGG... | GGACTTTGCAGCCCCCATGCATGTGCCTTTGGCACCGGGGCTGTCCCTCTCTGGCCTCCGTCAGGTTGAATGGCTGCGTAAAATGCCTAGGCTGTGGTGCTAGCTCAGAGTGGTGCCCGGCGAAGGTTCCTGTCCTTCCCTAGCTAACAAAGGTTAATCCAGCAGCAGTGTTGTGGGGCTGGGGAGCAGATCTTCCTCCCCTCCTCCCTCACCGAGGCCTTTGCCTTGGTGTCCCAAGGAGGCAGAATTGACCACGGGCACCATGAAGGAAAAGCCAAGCAGGCCCTGCATGAGGCGGTGGAGATGGACCGGGCCATCGG... | pathogenic | 4,905 |
Evaluate if the mutation on chromosome 1 at position 21577623 in ALPL (alkaline phosphatase, biomineralization associated) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Hypophosphatasia', 'Infantile_hypophosphatasia'] | AAATGCCTAGGCTGTGGTGCTAGCTCAGAGTGGTGCCCGGCGAAGGTTCCTGTCCTTCCCTAGCTAACAAAGGTTAATCCAGCAGCAGTGTTGTGGGGCTGGGGAGCAGATCTTCCTCCCCTCCTCCCTCACCGAGGCCTTTGCCTTGGTGTCCCAAGGAGGCAGAATTGACCACGGGCACCATGAAGGAAAAGCCAAGCAGGCCCTGCATGAGGCGGTGGAGATGGACCGGGCCATCGGGCAGGCAGGCAGCTTGACCTCCTCGGAAGACACTCTGACCGTGGTCACTGCGGACCATTCCCACGTCTTCACATTTGGTG... | AAATGCCTAGGCTGTGGTGCTAGCTCAGAGTGGTGCCCGGCGAAGGTTCCTGTCCTTCCCTAGCTAACAAAGGTTAATCCAGCAGCAGTGTTGTGGGGCTGGGGAGCAGATCTTCCTCCCCTCCTCCCTCACCGAGGCCTTTGCCTTGGTGTCCCAAGGAGGCAGAATTGACCACGGGCACCATGAAGGAAAAGCCAAGCAGGCCCTGCATGAGGCGGTGGAGATGGACCGGGCCATCGGGCAGGCAGGCAGCTTGACCTCCTCGGAAGACACTCTGACCGTGGTCACTGCGGACCATTCCCACGTCTTCACATTTGGTG... | pathogenic | 4,913 |
Assess the variant on chromosome 1, position 21577631, impacting ALPL (alkaline phosphatase, biomineralization associated): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Adult_hypophosphatasia', 'Hypophosphatasia', 'Infantile_hypophosphatasia'] | AGGCTGTGGTGCTAGCTCAGAGTGGTGCCCGGCGAAGGTTCCTGTCCTTCCCTAGCTAACAAAGGTTAATCCAGCAGCAGTGTTGTGGGGCTGGGGAGCAGATCTTCCTCCCCTCCTCCCTCACCGAGGCCTTTGCCTTGGTGTCCCAAGGAGGCAGAATTGACCACGGGCACCATGAAGGAAAAGCCAAGCAGGCCCTGCATGAGGCGGTGGAGATGGACCGGGCCATCGGGCAGGCAGGCAGCTTGACCTCCTCGGAAGACACTCTGACCGTGGTCACTGCGGACCATTCCCACGTCTTCACATTTGGTGGATACACC... | AGGCTGTGGTGCTAGCTCAGAGTGGTGCCCGGCGAAGGTTCCTGTCCTTCCCTAGCTAACAAAGGTTAATCCAGCAGCAGTGTTGTGGGGCTGGGGAGCAGATCTTCCTCCCCTCCTCCCTCACCGAGGCCTTTGCCTTGGTGTCCCAAGGAGGCAGAATTGACCACGGGCACCATGAAGGAAAAGCCAAGCAGGCCCTGCATGAGGCGGTGGAGATGGACCGGGCCATCGGGCAGGCAGGCAGCTTGACCTCCTCGGAAGACACTCTGACCGTGGTCACTGCGGACCATTCCCACGTCTTCACATTTGGTGGATACACC... | pathogenic | 4,914 |
Considering the genetic mutation at chromosome 1, position 21577769, impacting ALPL (alkaline phosphatase, biomineralization associated): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | benign | TGGTGTCCCAAGGAGGCAGAATTGACCACGGGCACCATGAAGGAAAAGCCAAGCAGGCCCTGCATGAGGCGGTGGAGATGGACCGGGCCATCGGGCAGGCAGGCAGCTTGACCTCCTCGGAAGACACTCTGACCGTGGTCACTGCGGACCATTCCCACGTCTTCACATTTGGTGGATACACCCCCCGTGGCAACTCTATCTTTGGTAGGTGGGCCTTCTTTGGGGTGGACACTCCTGGGGTCTCCTGTCTACCCACCTGGGAGCAGGAGTGGGTGGGAGAGCCAGCAAGCCCAGAGCATGGTGGGGACTCAATGACAACT... | TGGTGTCCCAAGGAGGCAGAATTGACCACGGGCACCATGAAGGAAAAGCCAAGCAGGCCCTGCATGAGGCGGTGGAGATGGACCGGGCCATCGGGCAGGCAGGCAGCTTGACCTCCTCGGAAGACACTCTGACCGTGGTCACTGCGGACCATTCCCACGTCTTCACATTTGGTGGATACACCCCCCGTGGCAACTCTATCTTTGGTAGGTGGGCCTTCTTTGGGGTGGACACTCCTGGGGTCTCCTGTCTACCCACCTGGGAGCAGGAGTGGGTGGGAGAGCCAGCAAGCCCAGAGCATGGTGGGGACTCAATGACAACT... | benign | 4,919 |
The mutation impacting ALPL (alkaline phosphatase, biomineralization associated) on chromosome 1 at position 21578333: benign or pathogenic? Name the associated disease(s) if pathogenic. | benign | GGGTGGATGGATGGATGGATGGGTGGATGGATGAATGGGAGGGACATGGGTACAATGAAAACTGGGGAATGGTTAGTTGGAAATAATAAGGTTTAGAAGGTGGCTTCTTGGAGGCATTGCAGGGCCCTTCAAAGAAGATCCCAGGGGTTACCAAGCCACCAAGGAGCCTAATCTGGGGGCTGGGGACTGTACTCCTGGGGCCCCAGCATGACCCCTGAACACCCCCTCCCTGTGCAGGTCTGGCCCCCATGCTGAGTGACACAGACAAGAAGCCCTTCACTGCCATCCTGTATGGCAATGGGCCTGGCTACAAGGTGGTG... | GGGTGGATGGATGGATGGATGGGTGGATGGATGAATGGGAGGGACATGGGTACAATGAAAACTGGGGAATGGTTAGTTGGAAATAATAAGGTTTAGAAGGTGGCTTCTTGGAGGCATTGCAGGGCCCTTCAAAGAAGATCCCAGGGGTTACCAAGCCACCAAGGAGCCTAATCTGGGGGCTGGGGACTGTACTCCTGGGGCCCCAGCATGACCCCTGAACACCCCCTCCCTGTGCAGGTCTGGCCCCCATGCTGAGTGACACAGACAAGAAGCCCTTCACTGCCATCCTGTATGGCAATGGGCCTGGCTACAAGGTGGTG... | benign | 4,926 |
Considering the variant on chromosome 1, location 21841292, involving gene HSPG2 (heparan sulfate proteoglycan 2), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | benign | CAGGCTCCAGGACCCTGCAGCGCCTGGAGACCTCTGGATGGGGTTCCTGGGGTTCTGTGTGGGGTGGAGCCTAGTCGGGGGGCTCAGATCTCCATTTGGTGCAGACAAAGAAGGGATGAGGCCTTACTCTCCACGTGCAGGATGATGGTGGCCTCAGCGTGCCCAGCAGGGCTAGTGGCATTGCAGATGTACTGGCCCGAGTCCTGCTGGGCTACCCGGGGTATGATGAGTGTGTCACCTTCCAGCCGGTGCTGCCAGGGCAGTGGGGAACGCAGCTTGGACCAGTGGATGGTGGGCGCGGGGCTGCCTGTGGAGTCGAG... | CAGGCTCCAGGACCCTGCAGCGCCTGGAGACCTCTGGATGGGGTTCCTGGGGTTCTGTGTGGGGTGGAGCCTAGTCGGGGGGCTCAGATCTCCATTTGGTGCAGACAAAGAAGGGATGAGGCCTTACTCTCCACGTGCAGGATGATGGTGGCCTCAGCGTGCCCAGCAGGGCTAGTGGCATTGCAGATGTACTGGCCCGAGTCCTGCTGGGCTACCCGGGGTATGATGAGTGTGTCACCTTCCAGCCGGTGCTGCCAGGGCAGTGGGGAACGCAGCTTGGACCAGTGGATGGTGGGCGCGGGGCTGCCTGTGGAGTCGAG... | benign | 5,041 |
Clinical impact (benign or pathogenic) of the variant at chromosome 1, location 21842256, gene HSPG2 (heparan sulfate proteoglycan 2): what disease(s) if pathogenic? | pathogenic; ['HSPG2-related_disorder', 'Lethal_Kniest-like_syndrome', 'Schwartz-Jampel_syndrome_type_1'] | GCTCATTGCAACCTCTGCCTCCTGGGCTCAAGCAATCCTCTCGCCTCAGCCTCCTGAATAGCTGGGACTACAGGTATGTGCCACCACACTCAGCTAATTTTGTTTGTTTGTTTGTTTTTTGAGGGTCTTGCTCTGTCACCCAGGCTGCAGTGCTGTGGCACGATCTCTGCTCACTGAAAGCTCTACCTCCCAGGTTCACATCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTATAGGCACCCGCCATCACGCCTGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTC... | GCTCATTGCAACCTCTGCCTCCTGGGCTCAAGCAATCCTCTCGCCTCAGCCTCCTGAATAGCTGGGACTACAGGTATGTGCCACCACACTCAGCTAATTTTGTTTGTTTGTTTGTTTTTTGAGGGTCTTGCTCTGTCACCCAGGCTGCAGTGCTGTGGCACGATCTCTGCTCACTGAAAGCTCTACCTCCCAGGTTCACATCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTATAGGCACCCGCCATCACGCCTGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTC... | pathogenic | 5,050 |
Regarding the variant at chromosome 1 and position 21855290, affecting gene HSPG2 (heparan sulfate proteoglycan 2): benign or pathogenic? If pathogenic, what are the associated illness(es)? | benign | TTCCCTCCCCAGCCTCTAACCACAAGCTGGAGGCCCATTGACCCACCCATGACTTCTTGATGATGAGCTCCTCTGGCCCATAGGGAACCAGCAAGCTTTACTACCCAGGCTGCGCCCAAGGATGCGGATGACAGTGAGACACCTCCCTTCTACAGGACGTCTTCCGTGTGCTCACAAGTACTTTCCATAGACACTGTCTCATTTAAACCACACCATGACTGGCCAGGCGCGGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGGCTGAGACGGTCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGG... | TTCCCTCCCCAGCCTCTAACCACAAGCTGGAGGCCCATTGACCCACCCATGACTTCTTGATGATGAGCTCCTCTGGCCCATAGGGAACCAGCAAGCTTTACTACCCAGGCTGCGCCCAAGGATGCGGATGACAGTGAGACACCTCCCTTCTACAGGACGTCTTCCGTGTGCTCACAAGTACTTTCCATAGACACTGTCTCATTTAAACCACACCATGACTGGCCAGGCGCGGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGGCTGAGACGGTCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGG... | benign | 5,137 |
Is the genetic variant on chromosome 1, position 21875925, gene HSPG2 (heparan sulfate proteoglycan 2), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic | GGACACCCCCTGTGCGCATCCCCCCACCCTCTCCACCCCCTGCCTCACCTCTCACAGTGACGCCCACTGTGGCCTGGGGAGCACGCATCACAGGTGGGGTGGCCGTCTGTGTCCAGAAAACAAGTGTGGGCAGCCCTGAGTGTGGGGGCAGATTTCTAGTCAGGAACGCAGTGGCTCCTTCCTCTCCCCCGATCCTCCTTCAGGACCAGGGGAGAGGGGAGGGGAAGAACAGGCATGTGAACTCATGTGTCCTCAGTGCCACTGCATGCCTGGCACTGTGCTAAGAGTTCCACATGCATAGCCTCATTCAACTCTCACAC... | GGACACCCCCTGTGCGCATCCCCCCACCCTCTCCACCCCCTGCCTCACCTCTCACAGTGACGCCCACTGTGGCCTGGGGAGCACGCATCACAGGTGGGGTGGCCGTCTGTGTCCAGAAAACAAGTGTGGGCAGCCCTGAGTGTGGGGGCAGATTTCTAGTCAGGAACGCAGTGGCTCCTTCCTCTCCCCCGATCCTCCTTCAGGACCAGGGGAGAGGGGAGGGGAAGAACAGGCATGTGAACTCATGTGTCCTCAGTGCCACTGCATGCCTGGCACTGTGCTAAGAGTTCCACATGCATAGCCTCATTCAACTCTCACAC... | pathogenic | 5,212 |
Determine if the mutation at chromosome 1, position 21881311 in gene HSPG2 (heparan sulfate proteoglycan 2) is benign or pathogenic. If pathogenic, what disease(s) is associated? | benign | CACTTATAGATGATGGGGAGCTCATCATCTTACACGGCAGCCTGTCCCATAGATGGTTCCAAATGCCTGCTTTTTATTGACCTAAACCTGCCACCCTCTTCCAATCTGCACCCACTGGCCAGTTCTGCTCTCCAGAGTCTGTTTCTTCTACCCGACACCTTTGCAGGGATTTGGAGATGACAATGCTGCCCTGCTTGAGCCTTTTCTTCTGTCAGCTCCACAATCCCAGCTCTCGCCACTATTCCTAAGAAATAAGGTCCCACCCCAAGGGCTCTTCCCCCTAGAGTTGCCCTCTGCAGGCCATGCTTCTTCATTTGGCA... | CACTTATAGATGATGGGGAGCTCATCATCTTACACGGCAGCCTGTCCCATAGATGGTTCCAAATGCCTGCTTTTTATTGACCTAAACCTGCCACCCTCTTCCAATCTGCACCCACTGGCCAGTTCTGCTCTCCAGAGTCTGTTTCTTCTACCCGACACCTTTGCAGGGATTTGGAGATGACAATGCTGCCCTGCTTGAGCCTTTTCTTCTGTCAGCTCCACAATCCCAGCTCTCGCCACTATTCCTAAGAAATAAGGTCCCACCCCAAGGGCTCTTCCCCCTAGAGTTGCCCTCTGCAGGCCATGCTTCTTCATTTGGCA... | benign | 5,242 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 1, position 23692659, gene RPL11 (ribosomal protein L11). What disease(s) is it linked to if pathogenic? | pathogenic; ['Diamond-Blackfan_anemia', 'Diamond-Blackfan_anemia_7', 'RPL11-related_disorder'] | GGCGTGAGCCACCGCGCCCGGCCGCTGTTAAGTACTTATATGTGAATAAGCGTAAGAAAGTATTGCTTATCAATAGCATATACATTTACAGTCTGGAAAAATGGTTAGGCCAACCAACCAGAGATTGTCCACAAGGGTGGCTGAGATAGTGACACCTTTGCTTTCTGATGGTTCAATGTACACAAACTTTGTTTCATGCACAAACTTACTTAAAATATTGTATAAAATTACCTTCAGACTATGTGTATAAGGTGTATATGGAACATAAATTAATTTCATATTCAGACTTGGGTTCCATCCCCAAGATATCTCATTATGTT... | GGCGTGAGCCACCGCGCCCGGCCGCTGTTAAGTACTTATATGTGAATAAGCGTAAGAAAGTATTGCTTATCAATAGCATATACATTTACAGTCTGGAAAAATGGTTAGGCCAACCAACCAGAGATTGTCCACAAGGGTGGCTGAGATAGTGACACCTTTGCTTTCTGATGGTTCAATGTACACAAACTTTGTTTCATGCACAAACTTACTTAAAATATTGTATAAAATTACCTTCAGACTATGTGTATAAGGTGTATATGGAACATAAATTAATTTCATATTCAGACTTGGGTTCCATCCCCAAGATATCTCATTATGTT... | pathogenic | 5,481 |
Evaluate this variant at chromosome 1, position 23692662, gene RPL11 (ribosomal protein L11): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Diamond-Blackfan_anemia'] | GTGAGCCACCGCGCCCGGCCGCTGTTAAGTACTTATATGTGAATAAGCGTAAGAAAGTATTGCTTATCAATAGCATATACATTTACAGTCTGGAAAAATGGTTAGGCCAACCAACCAGAGATTGTCCACAAGGGTGGCTGAGATAGTGACACCTTTGCTTTCTGATGGTTCAATGTACACAAACTTTGTTTCATGCACAAACTTACTTAAAATATTGTATAAAATTACCTTCAGACTATGTGTATAAGGTGTATATGGAACATAAATTAATTTCATATTCAGACTTGGGTTCCATCCCCAAGATATCTCATTATGTTTAT... | GTGAGCCACCGCGCCCGGCCGCTGTTAAGTACTTATATGTGAATAAGCGTAAGAAAGTATTGCTTATCAATAGCATATACATTTACAGTCTGGAAAAATGGTTAGGCCAACCAACCAGAGATTGTCCACAAGGGTGGCTGAGATAGTGACACCTTTGCTTTCTGATGGTTCAATGTACACAAACTTTGTTTCATGCACAAACTTACTTAAAATATTGTATAAAATTACCTTCAGACTATGTGTATAAGGTGTATATGGAACATAAATTAATTTCATATTCAGACTTGGGTTCCATCCCCAAGATATCTCATTATGTTTAT... | pathogenic | 5,482 |
Mutation at chromosome 1, position 23692691, within RPL11 (ribosomal protein L11): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Diamond-Blackfan_anemia_7'] | TACTTATATGTGAATAAGCGTAAGAAAGTATTGCTTATCAATAGCATATACATTTACAGTCTGGAAAAATGGTTAGGCCAACCAACCAGAGATTGTCCACAAGGGTGGCTGAGATAGTGACACCTTTGCTTTCTGATGGTTCAATGTACACAAACTTTGTTTCATGCACAAACTTACTTAAAATATTGTATAAAATTACCTTCAGACTATGTGTATAAGGTGTATATGGAACATAAATTAATTTCATATTCAGACTTGGGTTCCATCCCCAAGATATCTCATTATGTTTATGCGAATATTCCATAATCCGGAAAAATCCC... | TACTTATATGTGAATAAGCGTAAGAAAGTATTGCTTATCAATAGCATATACATTTACAGTCTGGAAAAATGGTTAGGCCAACCAACCAGAGATTGTCCACAAGGGTGGCTGAGATAGTGACACCTTTGCTTTCTGATGGTTCAATGTACACAAACTTTGTTTCATGCACAAACTTACTTAAAATATTGTATAAAATTACCTTCAGACTATGTGTATAAGGTGTATATGGAACATAAATTAATTTCATATTCAGACTTGGGTTCCATCCCCAAGATATCTCATTATGTTTATGCGAATATTCCATAATCCGGAAAAATCCC... | pathogenic | 5,484 |
A genetic variant at chromosome 1, position 23695862, affecting gene RPL11 (ribosomal protein L11)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Diamond-Blackfan_anemia', 'Diamond-Blackfan_anemia_7'] | CACTGTCAGATCCTTTGGCATCCGGAGAAATGAAAAGATTGCTGTCCACTGCACAGTTCGAGGGGCCAAGGCAGAAGAAATCTTGGAGAAGGGTCTAAAGGTGAGCCTAATCCCCTAATGGAGTGATATTGATCAGCACTCCTTTAGTAACACATGTAGATAAGTTACATTTAATGTTCTGTTCTTTGGTGTCTTGATATTTATTTACTTAAGCTTCTAAAAGGCTTTTTCTACAATCAGCAGGGTTAAACTGTTCTTGGTGGTTTAAAAGATGCTTGAGGCTGGGCACGGTGGCTCAACGCCTGTAATCCCAACACTTT... | CACTGTCAGATCCTTTGGCATCCGGAGAAATGAAAAGATTGCTGTCCACTGCACAGTTCGAGGGGCCAAGGCAGAAGAAATCTTGGAGAAGGGTCTAAAGGTGAGCCTAATCCCCTAATGGAGTGATATTGATCAGCACTCCTTTAGTAACACATGTAGATAAGTTACATTTAATGTTCTGTTCTTTGGTGTCTTGATATTTATTTACTTAAGCTTCTAAAAGGCTTTTTCTACAATCAGCAGGGTTAAACTGTTCTTGGTGGTTTAAAAGATGCTTGAGGCTGGGCACGGTGGCTCAACGCCTGTAATCCCAACACTTT... | pathogenic | 5,496 |
Is chromosome 1, position 23796742, gene GALE (UDP-galactose-4-epimerase) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['UDPglucose-4-epimerase_deficiency'] | GTGAAGGAATTTCTTGAGAAGCTGCTGCCTCCTGTCTAACTAGTCGCTGGCCCCAGTGCAGTACCCCAGCTCATGGGGGACTCAGCAAGCAAGCGTGGCACCATCTTGGATCTGAGCCGGTCGAGCCCCTGTCCCCACCCTTCCTGACCTGTCCTTTTCCCACAGGCCTCTGGGGGCAGGTGGCAAGGCCTGGCCGGGCCTTCCTTCCTGGCCTTAGCCACCTGGCTCTGTCTGCAGCAGGGGCAGGCTGCTTTCTTATCCATTTCCCTGGAGGCGGGCCCCCCTGGCAGCAGTATTGGAGGGGCTACAGGCAGCTGGAG... | GTGAAGGAATTTCTTGAGAAGCTGCTGCCTCCTGTCTAACTAGTCGCTGGCCCCAGTGCAGTACCCCAGCTCATGGGGGACTCAGCAAGCAAGCGTGGCACCATCTTGGATCTGAGCCGGTCGAGCCCCTGTCCCCACCCTTCCTGACCTGTCCTTTTCCCACAGGCCTCTGGGGGCAGGTGGCAAGGCCTGGCCGGGCCTTCCTTCCTGGCCTTAGCCACCTGGCTCTGTCTGCAGCAGGGGCAGGCTGCTTTCTTATCCATTTCCCTGGAGGCGGGCCCCCCTGGCAGCAGTATTGGAGGGGCTACAGGCAGCTGGAG... | pathogenic | 5,512 |
Clinically, how would you classify the variant at chromosome 1, position 23797705, gene GALE (UDP-galactose-4-epimerase): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Thrombocytopenia_13,_syndromic', 'UDPglucose-4-epimerase_deficiency'] | ATATAAATGAGTGCCTGGGAGGAGGAGGTTTTGTGCCAGAGCCTTGCCCCCTCACTCACTCTTGGGGGTCCTGATGAACTCTTGGACCCTGTGGAAGATAAGAGTTAGAGACCTCGGCCTCCTGGTCAGTGGAGCCCTTGGCCTCATGCCTGGTGGGCTAAGCGGGCCCAGCTGGGGTTTGAGGTAGGGGAGGCCTTGGCTTGGCCCCAGCAGCTCCAGGGCCCTGAGTTCCTGCCAGAGGCTGGAGAGCAGGCAGCTGCTGCTTTTCCTGGTCCTTGGTAGGGGAGGGTCCTCAGGCTTGCGTGCCAAAGCCTGAAGGA... | ATATAAATGAGTGCCTGGGAGGAGGAGGTTTTGTGCCAGAGCCTTGCCCCCTCACTCACTCTTGGGGGTCCTGATGAACTCTTGGACCCTGTGGAAGATAAGAGTTAGAGACCTCGGCCTCCTGGTCAGTGGAGCCCTTGGCCTCATGCCTGGTGGGCTAAGCGGGCCCAGCTGGGGTTTGAGGTAGGGGAGGCCTTGGCTTGGCCCCAGCAGCTCCAGGGCCCTGAGTTCCTGCCAGAGGCTGGAGAGCAGGCAGCTGCTGCTTTTCCTGGTCCTTGGTAGGGGAGGGTCCTCAGGCTTGCGTGCCAAAGCCTGAAGGA... | pathogenic | 5,518 |
Evaluate this variant at chromosome 1, position 23798697, gene GALE (UDP-galactose-4-epimerase): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Thrombocytopenia_13,_syndromic', 'UDPglucose-4-epimerase_deficiency'] | GCCTGGATCTGGTCCCTCCCCTCCCTCACTTCTCCCTTCTCTTCCTACCCGGCAGCCACACTGTTCTTTCAGCTTCCTTAAGGCTGCAATGTGGCCCTTGGCCAGATCCACGACATGGATGTAATCCCGGACACCTGCAGAGAAGGGAGTGTGTTGGATGGGGAGTCTGTTCCCCCTGACTCTCCTTCCTGGCTCCCACTCCTAGGTCCCCCTGGTCCTAGGCTCACCTGTGCCATCCTCTGTGTCATAGTCATTGCCAAAGACATTCAGGGCCTCCCGTCGCCCGATCGCCACCTGGAGGTGGAGATCAGGTCAGTTCG... | GCCTGGATCTGGTCCCTCCCCTCCCTCACTTCTCCCTTCTCTTCCTACCCGGCAGCCACACTGTTCTTTCAGCTTCCTTAAGGCTGCAATGTGGCCCTTGGCCAGATCCACGACATGGATGTAATCCCGGACACCTGCAGAGAAGGGAGTGTGTTGGATGGGGAGTCTGTTCCCCCTGACTCTCCTTCCTGGCTCCCACTCCTAGGTCCCCCTGGTCCTAGGCTCACCTGTGCCATCCTCTGTGTCATAGTCATTGCCAAAGACATTCAGGGCCTCCCGTCGCCCGATCGCCACCTGGAGGTGGAGATCAGGTCAGTTCG... | pathogenic | 5,527 |
Considering the variant on chromosome 1, location 23798730, involving gene GALE (UDP-galactose-4-epimerase), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Thrombocytopenia_13,_syndromic', 'UDPglucose-4-epimerase_deficiency'] | CCCTTCTCTTCCTACCCGGCAGCCACACTGTTCTTTCAGCTTCCTTAAGGCTGCAATGTGGCCCTTGGCCAGATCCACGACATGGATGTAATCCCGGACACCTGCAGAGAAGGGAGTGTGTTGGATGGGGAGTCTGTTCCCCCTGACTCTCCTTCCTGGCTCCCACTCCTAGGTCCCCCTGGTCCTAGGCTCACCTGTGCCATCCTCTGTGTCATAGTCATTGCCAAAGACATTCAGGGCCTCCCGTCGCCCGATCGCCACCTGGAGGTGGAGATCAGGTCAGTTCGTCCCAGATCCCAGGCACCAGCTTTAACCCCAGG... | CCCTTCTCTTCCTACCCGGCAGCCACACTGTTCTTTCAGCTTCCTTAAGGCTGCAATGTGGCCCTTGGCCAGATCCACGACATGGATGTAATCCCGGACACCTGCAGAGAAGGGAGTGTGTTGGATGGGGAGTCTGTTCCCCCTGACTCTCCTTCCTGGCTCCCACTCCTAGGTCCCCCTGGTCCTAGGCTCACCTGTGCCATCCTCTGTGTCATAGTCATTGCCAAAGACATTCAGGGCCTCCCGTCGCCCGATCGCCACCTGGAGGTGGAGATCAGGTCAGTTCGTCCCAGATCCCAGGCACCAGCTTTAACCCCAGG... | pathogenic | 5,528 |
Is the genetic variant on chromosome 1, position 23802525, gene HMGCL (3-hydroxy-3-methylglutaryl-CoA lyase), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Deficiency_of_hydroxymethylglutaryl-CoA_lyase'] | CAGGCTGGGCTTTGGGCTGTAGCGCGGAGCGGGGCCGAGCTAGGAGTCCTCAGGCCGGCAATGAATGAACCCCGGCCGCCCCAGCCCGGGCAGCGGGGAACTGGGACAAAGGGGGCGGGCCTGCCCTGGAGGGACGCTGCCAGGAACACGACCCGCCCCTCGGAAACTCCCTCGCTCCCCGCGGACTCCCCGGCCCCTCGCGAGCCCACCCGGCCCTTCATTCCGTCTCCCGAACCTGCTCGGGTTCCCGCGCCCCACGCTTGCTGCAGAGGCACCGCCTCCTACGCCCGAGCCGCGGGCCCTTTAAGTGCTGACGGCCC... | CAGGCTGGGCTTTGGGCTGTAGCGCGGAGCGGGGCCGAGCTAGGAGTCCTCAGGCCGGCAATGAATGAACCCCGGCCGCCCCAGCCCGGGCAGCGGGGAACTGGGACAAAGGGGGCGGGCCTGCCCTGGAGGGACGCTGCCAGGAACACGACCCGCCCCTCGGAAACTCCCTCGCTCCCCGCGGACTCCCCGGCCCCTCGCGAGCCCACCCGGCCCTTCATTCCGTCTCCCGAACCTGCTCGGGTTCCCGCGCCCCACGCTTGCTGCAGAGGCACCGCCTCCTACGCCCGAGCCGCGGGCCCTTTAAGTGCTGACGGCCC... | pathogenic | 5,534 |
Evaluate the clinical significance of the mutation at chromosome 1, position 23804409 in gene HMGCL (3-hydroxy-3-methylglutaryl-CoA lyase): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Deficiency_of_hydroxymethylglutaryl-CoA_lyase'] | TGCACCATTTAACCTATTCTCATTTCCATGTCCCCATCCATGAATCATCTGTGTGTGCCCCTATTTCCACATCATCCCCAGGGCTTCAGGTGGGCAAGGGGCTCAGAGTTTACAGGTAGCCTGAGCCACTTTGGAGCTAGTTTTTCTGTTCAGGGCTTGACAGATAAAGTTTCCAGCTTCCAGAAGCTTCTGGAGATTCACACCCTTTGAGAAACAAGTTAGAGGATGCGGTAAGTCATGGTATGCCCTCAACACCAGGGAAAACATCAGCATGGACAGACAACTGTGATACTGAAAAGTAAAGGTGAAGATAAACAGGC... | TGCACCATTTAACCTATTCTCATTTCCATGTCCCCATCCATGAATCATCTGTGTGTGCCCCTATTTCCACATCATCCCCAGGGCTTCAGGTGGGCAAGGGGCTCAGAGTTTACAGGTAGCCTGAGCCACTTTGGAGCTAGTTTTTCTGTTCAGGGCTTGACAGATAAAGTTTCCAGCTTCCAGAAGCTTCTGGAGATTCACACCCTTTGAGAAACAAGTTAGAGGATGCGGTAAGTCATGGTATGCCCTCAACACCAGGGAAAACATCAGCATGGACAGACAACTGTGATACTGAAAAGTAAAGGTGAAGATAAACAGGC... | pathogenic | 5,537 |
Clinical classification of chromosome 1, position 23804422, gene HMGCL (3-hydroxy-3-methylglutaryl-CoA lyase): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Deficiency_of_hydroxymethylglutaryl-CoA_lyase', 'HMGCL-related_disorder'] | CTATTCTCATTTCCATGTCCCCATCCATGAATCATCTGTGTGTGCCCCTATTTCCACATCATCCCCAGGGCTTCAGGTGGGCAAGGGGCTCAGAGTTTACAGGTAGCCTGAGCCACTTTGGAGCTAGTTTTTCTGTTCAGGGCTTGACAGATAAAGTTTCCAGCTTCCAGAAGCTTCTGGAGATTCACACCCTTTGAGAAACAAGTTAGAGGATGCGGTAAGTCATGGTATGCCCTCAACACCAGGGAAAACATCAGCATGGACAGACAACTGTGATACTGAAAAGTAAAGGTGAAGATAAACAGGCTTTTTCCTTGACA... | CTATTCTCATTTCCATGTCCCCATCCATGAATCATCTGTGTGTGCCCCTATTTCCACATCATCCCCAGGGCTTCAGGTGGGCAAGGGGCTCAGAGTTTACAGGTAGCCTGAGCCACTTTGGAGCTAGTTTTTCTGTTCAGGGCTTGACAGATAAAGTTTCCAGCTTCCAGAAGCTTCTGGAGATTCACACCCTTTGAGAAACAAGTTAGAGGATGCGGTAAGTCATGGTATGCCCTCAACACCAGGGAAAACATCAGCATGGACAGACAACTGTGATACTGAAAAGTAAAGGTGAAGATAAACAGGCTTTTTCCTTGACA... | pathogenic | 5,538 |
A genetic variant on chromosome 1, position 23808179, affects the gene HMGCL (3-hydroxy-3-methylglutaryl-CoA lyase). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Deficiency_of_hydroxymethylglutaryl-CoA_lyase'] | TAGTTGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAAACTCCTGACCTCAAGTGATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCAGCCGAGGAGCCTCTCAAACGGAACATTTCAGATCATCTCCCTCCCCGCCCCTGCTCAAGACTCTCTGTTAGCTTCCCAGCTCAGTCTGAAAGAGTCAAAGTCCTACAAGGCCCCCGATCTGGCCTTCCTCTAACCCTGACATCTCTGCCCCCCTCTCCTCAGTCACACTGCTCCCGCCACATGCCTCCTCCTGATCCCTGA... | TAGTTGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAAACTCCTGACCTCAAGTGATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCAGCCGAGGAGCCTCTCAAACGGAACATTTCAGATCATCTCCCTCCCCGCCCCTGCTCAAGACTCTCTGTTAGCTTCCCAGCTCAGTCTGAAAGAGTCAAAGTCCTACAAGGCCCCCGATCTGGCCTTCCTCTAACCCTGACATCTCTGCCCCCCTCTCCTCAGTCACACTGCTCCCGCCACATGCCTCCTCCTGATCCCTGA... | pathogenic | 5,540 |
Evaluate the clinical significance of the mutation at chromosome 1, position 23808274 in gene HMGCL (3-hydroxy-3-methylglutaryl-CoA lyase): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Deficiency_of_hydroxymethylglutaryl-CoA_lyase'] | TACAGGTGTGAGCCACTGTGCCCAGCCGAGGAGCCTCTCAAACGGAACATTTCAGATCATCTCCCTCCCCGCCCCTGCTCAAGACTCTCTGTTAGCTTCCCAGCTCAGTCTGAAAGAGTCAAAGTCCTACAAGGCCCCCGATCTGGCCTTCCTCTAACCCTGACATCTCTGCCCCCCTCTCCTCAGTCACACTGCTCCCGCCACATGCCTCCTCCTGATCCCTGAACACAGCAAGCACACTCCTCCCTCAGGGCTCTGCGCCTGCTTTCCTGGGTGGGGCTCCCTTCCCTCCCCCTCCCTGCTAGGGATCCGCAGGGCTC... | TACAGGTGTGAGCCACTGTGCCCAGCCGAGGAGCCTCTCAAACGGAACATTTCAGATCATCTCCCTCCCCGCCCCTGCTCAAGACTCTCTGTTAGCTTCCCAGCTCAGTCTGAAAGAGTCAAAGTCCTACAAGGCCCCCGATCTGGCCTTCCTCTAACCCTGACATCTCTGCCCCCCTCTCCTCAGTCACACTGCTCCCGCCACATGCCTCCTCCTGATCCCTGAACACAGCAAGCACACTCCTCCCTCAGGGCTCTGCGCCTGCTTTCCTGGGTGGGGCTCCCTTCCCTCCCCCTCCCTGCTAGGGATCCGCAGGGCTC... | pathogenic | 5,544 |
Clinical impact (benign or pathogenic) of the variant at chromosome 1, location 23810790, gene HMGCL (3-hydroxy-3-methylglutaryl-CoA lyase): what disease(s) if pathogenic? | pathogenic; ['Deficiency_of_hydroxymethylglutaryl-CoA_lyase', 'Inborn_genetic_diseases', 'Long_chain_3-hydroxyacyl-CoA_dehydrogenase_deficiency'] | CTTTTTTTTTTTTTTTTTTTGAGACCGGGTCTCACTCTGTCATTCGGCTAGAGTGCAGTGGTGTGATCTCGGCTTACTGCAACCTTGGCCTCTCAGACTCAAGCAATCCTCCCACCTCAGCCTCCCAAGTAGCTTGGACCATATGTATAAAAATGTATATATTTTACATATATATATTTTTTGAGACAGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAAGCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGTCTCAGTCTCCCAAGTAGCTGGGATCATAGGCACCTACCACCA... | CTTTTTTTTTTTTTTTTTTTGAGACCGGGTCTCACTCTGTCATTCGGCTAGAGTGCAGTGGTGTGATCTCGGCTTACTGCAACCTTGGCCTCTCAGACTCAAGCAATCCTCCCACCTCAGCCTCCCAAGTAGCTTGGACCATATGTATAAAAATGTATATATTTTACATATATATATTTTTTGAGACAGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAAGCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGTCTCAGTCTCCCAAGTAGCTGGGATCATAGGCACCTACCACCA... | pathogenic | 5,553 |
Determine if the mutation at chromosome 1, position 23814311 in gene HMGCL (3-hydroxy-3-methylglutaryl-CoA lyase) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Deficiency_of_hydroxymethylglutaryl-CoA_lyase'] | TGAAGGACTGGAGCAGCTTCTCAGAGGAACTGACTCCCACAAGAAGACCTGAAGGATGAGCAGGAGTTATCCCCGAGAAGCATGATGTGGAGGAAGTGTTCTTTATTTTTTGGAGACAGAGTCTTACTCTTTCACCCATGCTGGTGTGCAGTGGCATGATTTTGGCTCACTTCAGCTTGGACCTCCCAGGCTCAGGTGATCTTCCCACCTTAGCCTCCTGAGTAGCTGGGACTACAGGCACATGCAACCACACCTGGCTTTTTTTTTGTAGAGCTGGGGTTTCACCATGTTGCCCAGGCCCAAGCCAGTCACAAACTCCT... | TGAAGGACTGGAGCAGCTTCTCAGAGGAACTGACTCCCACAAGAAGACCTGAAGGATGAGCAGGAGTTATCCCCGAGAAGCATGATGTGGAGGAAGTGTTCTTTATTTTTTGGAGACAGAGTCTTACTCTTTCACCCATGCTGGTGTGCAGTGGCATGATTTTGGCTCACTTCAGCTTGGACCTCCCAGGCTCAGGTGATCTTCCCACCTTAGCCTCCTGAGTAGCTGGGACTACAGGCACATGCAACCACACCTGGCTTTTTTTTTGTAGAGCTGGGGTTTCACCATGTTGCCCAGGCCCAAGCCAGTCACAAACTCCT... | pathogenic | 5,560 |
Considering the variant on chromosome 1, location 23814325, involving gene HMGCL (3-hydroxy-3-methylglutaryl-CoA lyase), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Deficiency_of_hydroxymethylglutaryl-CoA_lyase'] | AGCTTCTCAGAGGAACTGACTCCCACAAGAAGACCTGAAGGATGAGCAGGAGTTATCCCCGAGAAGCATGATGTGGAGGAAGTGTTCTTTATTTTTTGGAGACAGAGTCTTACTCTTTCACCCATGCTGGTGTGCAGTGGCATGATTTTGGCTCACTTCAGCTTGGACCTCCCAGGCTCAGGTGATCTTCCCACCTTAGCCTCCTGAGTAGCTGGGACTACAGGCACATGCAACCACACCTGGCTTTTTTTTTGTAGAGCTGGGGTTTCACCATGTTGCCCAGGCCCAAGCCAGTCACAAACTCCTGGGCTGAAGCAACC... | AGCTTCTCAGAGGAACTGACTCCCACAAGAAGACCTGAAGGATGAGCAGGAGTTATCCCCGAGAAGCATGATGTGGAGGAAGTGTTCTTTATTTTTTGGAGACAGAGTCTTACTCTTTCACCCATGCTGGTGTGCAGTGGCATGATTTTGGCTCACTTCAGCTTGGACCTCCCAGGCTCAGGTGATCTTCCCACCTTAGCCTCCTGAGTAGCTGGGACTACAGGCACATGCAACCACACCTGGCTTTTTTTTTGTAGAGCTGGGGTTTCACCATGTTGCCCAGGCCCAAGCCAGTCACAAACTCCTGGGCTGAAGCAACC... | pathogenic | 5,562 |
Evaluate if the mutation on chromosome 1 at position 23816705 in HMGCL (3-hydroxy-3-methylglutaryl-CoA lyase) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Deficiency_of_hydroxymethylglutaryl-CoA_lyase', 'Long_chain_3-hydroxyacyl-CoA_dehydrogenase_deficiency'] | TCATGCCCGGCCAGCACTTTTCTCTTTAAAGAACACTGACACAGAGTAGCAAAAAATTTCTCTTAAGGTAAATTTTATGTTATGTGAATGTTATGGGTTGAATTGTGTCCTCCTAAAAATATATGTTGAAGGATTAAAACCCAGCACCTCAGAATGTGACCTTATTTGGAAACAGCGTCATTGCAGATATCATTAGTTAAGATGAAGCCATACTGGAATAGGGTGGGCCCCTAATCCCATACGACTGGTGACCTTAAAAAAAGATGGCCAGCCGGGCGCAGTGGCTCACGCTTGTAATCACAGCACTTTGGGAGGCCGAG... | TCATGCCCGGCCAGCACTTTTCTCTTTAAAGAACACTGACACAGAGTAGCAAAAAATTTCTCTTAAGGTAAATTTTATGTTATGTGAATGTTATGGGTTGAATTGTGTCCTCCTAAAAATATATGTTGAAGGATTAAAACCCAGCACCTCAGAATGTGACCTTATTTGGAAACAGCGTCATTGCAGATATCATTAGTTAAGATGAAGCCATACTGGAATAGGGTGGGCCCCTAATCCCATACGACTGGTGACCTTAAAAAAAGATGGCCAGCCGGGCGCAGTGGCTCACGCTTGTAATCACAGCACTTTGGGAGGCCGAG... | pathogenic | 5,564 |
Variant in gene HMGCL (3-hydroxy-3-methylglutaryl-CoA lyase), located at chromosome 1 position 23816736: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Deficiency_of_hydroxymethylglutaryl-CoA_lyase'] | AACACTGACACAGAGTAGCAAAAAATTTCTCTTAAGGTAAATTTTATGTTATGTGAATGTTATGGGTTGAATTGTGTCCTCCTAAAAATATATGTTGAAGGATTAAAACCCAGCACCTCAGAATGTGACCTTATTTGGAAACAGCGTCATTGCAGATATCATTAGTTAAGATGAAGCCATACTGGAATAGGGTGGGCCCCTAATCCCATACGACTGGTGACCTTAAAAAAAGATGGCCAGCCGGGCGCAGTGGCTCACGCTTGTAATCACAGCACTTTGGGAGGCCGAGGCGGGCAGATCATGAGGTCAGGAGATCGAGA... | AACACTGACACAGAGTAGCAAAAAATTTCTCTTAAGGTAAATTTTATGTTATGTGAATGTTATGGGTTGAATTGTGTCCTCCTAAAAATATATGTTGAAGGATTAAAACCCAGCACCTCAGAATGTGACCTTATTTGGAAACAGCGTCATTGCAGATATCATTAGTTAAGATGAAGCCATACTGGAATAGGGTGGGCCCCTAATCCCATACGACTGGTGACCTTAAAAAAAGATGGCCAGCCGGGCGCAGTGGCTCACGCTTGTAATCACAGCACTTTGGGAGGCCGAGGCGGGCAGATCATGAGGTCAGGAGATCGAGA... | pathogenic | 5,565 |
Assess the variant on chromosome 1, position 23817497, impacting HMGCL (3-hydroxy-3-methylglutaryl-CoA lyase): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Deficiency_of_hydroxymethylglutaryl-CoA_lyase'] | TTTCTGTTGTTTTTAAGCCACCCAATTTGTAGTGCTTTCTTTTTTTTTTTCTTTTTTCTTTTTTTGAGACAAAGTCTTGCTCTGTCACCCAGGCTGGAATGCAGTGGCATGATCTTGGCTCACTGCAACCTCCGCCTTCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATTACAGGTACCTGCCACCAAGCCTGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCATCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCGCCCGCCCTGGTCTCCCAAAGTGCTAGGATT... | TTTCTGTTGTTTTTAAGCCACCCAATTTGTAGTGCTTTCTTTTTTTTTTTCTTTTTTCTTTTTTTGAGACAAAGTCTTGCTCTGTCACCCAGGCTGGAATGCAGTGGCATGATCTTGGCTCACTGCAACCTCCGCCTTCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATTACAGGTACCTGCCACCAAGCCTGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCATCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCGCCCGCCCTGGTCTCCCAAAGTGCTAGGATT... | pathogenic | 5,569 |
Variant at chromosome position 23817520, chromosome 1, gene HMGCL (3-hydroxy-3-methylglutaryl-CoA lyase): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Deficiency_of_hydroxymethylglutaryl-CoA_lyase'] | AATTTGTAGTGCTTTCTTTTTTTTTTTCTTTTTTCTTTTTTTGAGACAAAGTCTTGCTCTGTCACCCAGGCTGGAATGCAGTGGCATGATCTTGGCTCACTGCAACCTCCGCCTTCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATTACAGGTACCTGCCACCAAGCCTGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCATCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCGCCCGCCCTGGTCTCCCAAAGTGCTAGGATTACAGGCGTGAGCCACCGCGCCCG... | AATTTGTAGTGCTTTCTTTTTTTTTTTCTTTTTTCTTTTTTTGAGACAAAGTCTTGCTCTGTCACCCAGGCTGGAATGCAGTGGCATGATCTTGGCTCACTGCAACCTCCGCCTTCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATTACAGGTACCTGCCACCAAGCCTGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCATCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCGCCCGCCCTGGTCTCCCAAAGTGCTAGGATTACAGGCGTGAGCCACCGCGCCCG... | pathogenic | 5,571 |
For chromosome 1, position 23825388, gene HMGCL (3-hydroxy-3-methylglutaryl-CoA lyase): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Deficiency_of_hydroxymethylglutaryl-CoA_lyase', 'Long_chain_3-hydroxyacyl-CoA_dehydrogenase_deficiency'] | ATTTACATATTTATTTATTTATTTATTTATTTGAGATACAGTCTCATTCTGTCTCCAGGCTGGAGAGCAGTGGCGCGATCTTGGCTCACTGCAACCTTCACCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCGCACCACCACACCTGGCTAATTTTTTGTATTTTAGTAGAGACAGGATTTCACCAGGTTGGCCAGGCTGGTCCCGAACTCCCGACCTCAAGTGATCCACCCACCTCAGCCTCCCAAAGTGCTAGGATTATAGGCATGAGCCACCACGCCTGGTGAGCCATT... | ATTTACATATTTATTTATTTATTTATTTATTTGAGATACAGTCTCATTCTGTCTCCAGGCTGGAGAGCAGTGGCGCGATCTTGGCTCACTGCAACCTTCACCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCGCACCACCACACCTGGCTAATTTTTTGTATTTTAGTAGAGACAGGATTTCACCAGGTTGGCCAGGCTGGTCCCGAACTCCCGACCTCAAGTGATCCACCCACCTCAGCCTCCCAAAGTGCTAGGATTATAGGCATGAGCCACCACGCCTGGTGAGCCATT... | pathogenic | 5,582 |
Mutation found at chromosome 1 position 23845814, gene FUCA1 (alpha-L-fucosidase 1): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Fucosidosis'] | GTGTGCACCACCACGCCTGGTTACTTTTTGTATTTTCTGTAGAGATGGGGTCTTGCTATGTTGCCCAGGCTGGTCTGGAACTCCTGGACTCAAGAAATCCACCCGCCTCTCCTTCCCAAAGTGTTAGGATTACAGGCGTGAGCCACTGTACCTGGCCTTCATTACTTCTTTCCAGCCTTCTTTTTAACATAAACATTTAACGCTATATTTTCCTGAAGTACTTTTATTTTTAAAGCTACATCTTATAAGGTTCAATATATAGTGTTACTATCATTCCAAGTATTTTCTTTTCTTTTTTTTTTAGAAGTGTGCATGAAGTT... | GTGTGCACCACCACGCCTGGTTACTTTTTGTATTTTCTGTAGAGATGGGGTCTTGCTATGTTGCCCAGGCTGGTCTGGAACTCCTGGACTCAAGAAATCCACCCGCCTCTCCTTCCCAAAGTGTTAGGATTACAGGCGTGAGCCACTGTACCTGGCCTTCATTACTTCTTTCCAGCCTTCTTTTTAACATAAACATTTAACGCTATATTTTCCTGAAGTACTTTTATTTTTAAAGCTACATCTTATAAGGTTCAATATATAGTGTTACTATCATTCCAAGTATTTTCTTTTCTTTTTTTTTTAGAAGTGTGCATGAAGTT... | pathogenic | 5,586 |
Variant on chromosome 1, at position 23854518, affecting FUCA1 (alpha-L-fucosidase 1): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Fucosidosis'] | CCCTCTCCCCACGGTCTCCCTCTCCCTCTCTTTCCACGGTCTCCCACTGATGCCGAGCCGAAGCTGGACTGTACTGCTGCCACCTCGGGTCACTGCAGCCTCCCTGCCTGATTCTCCTGCCTCAGCCTGCCGAGTGCCTGCGATTGCAGGTGCGCGCCACCACGCCTGACTGGTTTTCGTATTTTTTTGGTGGAGACGGGGTTTCGCTGTGTTGGCCGGGCTGGTCTCCAGCTCCTAACTGCGAGTGATCCGCCAGCCTCGGCCTCCAGAGGTGCCGGGATTGCAGATGGAGTCTGGTTCACTCAGTGCTCAATGGTGCC... | CCCTCTCCCCACGGTCTCCCTCTCCCTCTCTTTCCACGGTCTCCCACTGATGCCGAGCCGAAGCTGGACTGTACTGCTGCCACCTCGGGTCACTGCAGCCTCCCTGCCTGATTCTCCTGCCTCAGCCTGCCGAGTGCCTGCGATTGCAGGTGCGCGCCACCACGCCTGACTGGTTTTCGTATTTTTTTGGTGGAGACGGGGTTTCGCTGTGTTGGCCGGGCTGGTCTCCAGCTCCTAACTGCGAGTGATCCGCCAGCCTCGGCCTCCAGAGGTGCCGGGATTGCAGATGGAGTCTGGTTCACTCAGTGCTCAATGGTGCC... | pathogenic | 5,598 |
The mutation impacting FUCA1 (alpha-L-fucosidase 1) on chromosome 1 at position 23863134: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Fucosidosis'] | GGCCGAGGCGGGCGGATCACGAGGTCGGGAGATCGAGACCATCCTAGCTAACACCGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCCGGGCATGGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGTACTCCAGCCTGGGCGACGGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGAATGGGTGCAGCACACCAGCATGGCACATGTATACATATGTAATTAACCTGCACATTG... | GGCCGAGGCGGGCGGATCACGAGGTCGGGAGATCGAGACCATCCTAGCTAACACCGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCCGGGCATGGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGTACTCCAGCCTGGGCGACGGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGAATGGGTGCAGCACACCAGCATGGCACATGTATACATATGTAATTAACCTGCACATTG... | pathogenic | 5,605 |
Regarding the variant found on chromosome 1 at position 23868279 in gene FUCA1 (alpha-L-fucosidase 1): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Fucosidosis'] | GAGCCTGGGAGACAGAGGTTGCAGTGAGCCGAGATCATGCAACTGTACTCCAGCCTGGGCTACAGAGCAAAACTGTTTCAAAACAACAATAACAACAAAATAGAAAACTTTCTAGAAAACTAAGCTGTTTGGTTTACCAAGCCTACATAAATTGCCTCTCATTTATTATAGAGGTGACAAAAGACCCAATAACTGGGAGAAAAGGCAAGTGTTGAAATAACAACCAAATCACTCAATATTTAATTTGCTTTTATGGCACAAAAATAGGTAATGCACTTTATGGTTCAATCATTGGCCAGAGTAGGGAACTCCAGGATTTG... | GAGCCTGGGAGACAGAGGTTGCAGTGAGCCGAGATCATGCAACTGTACTCCAGCCTGGGCTACAGAGCAAAACTGTTTCAAAACAACAATAACAACAAAATAGAAAACTTTCTAGAAAACTAAGCTGTTTGGTTTACCAAGCCTACATAAATTGCCTCTCATTTATTATAGAGGTGACAAAAGACCCAATAACTGGGAGAAAAGGCAAGTGTTGAAATAACAACCAAATCACTCAATATTTAATTTGCTTTTATGGCACAAAAATAGGTAATGCACTTTATGGTTCAATCATTGGCCAGAGTAGGGAACTCCAGGATTTG... | pathogenic | 5,619 |
A genetic variant at chromosome 1, position 25543762, affecting gene LDLRAP1—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Familial_hypercholesterolemia', 'Hypercholesterolemia,_familial,_4'] | AGTCCTTAAGGACAGCCCTGTGAAATAGATATAGTTGTCCCTTTTACAGATGAGGCTCAGAAGGGTGAGTTCACAACCACCAGAAGGACAGCTGGGTTCTAACCCCTGGCATTATACTCTACCCCATTGCCTATGGGCCTGAGTCTGATCCCAGTCTCTGACTCTCGGAGACTATCAGTGAATGCTTCCCTCCCTGACCTAGGGCTGTCATCTGTAAAGTGGGTCCACCTAAGCAGTGTTGCTGGGGAAGCCAAGGACAGACTGGCTAACAAAGCACTTGGTTTATAAACAGGGGAATGTCAGTGAGGCCGCCCTATCCA... | AGTCCTTAAGGACAGCCCTGTGAAATAGATATAGTTGTCCCTTTTACAGATGAGGCTCAGAAGGGTGAGTTCACAACCACCAGAAGGACAGCTGGGTTCTAACCCCTGGCATTATACTCTACCCCATTGCCTATGGGCCTGAGTCTGATCCCAGTCTCTGACTCTCGGAGACTATCAGTGAATGCTTCCCTCCCTGACCTAGGGCTGTCATCTGTAAAGTGGGTCCACCTAAGCAGTGTTGCTGGGGAAGCCAAGGACAGACTGGCTAACAAAGCACTTGGTTTATAAACAGGGGAATGTCAGTGAGGCCGCCCTATCCA... | pathogenic | 5,687 |
Is the genetic mutation found on chromosome 1 at position 25543762, within the gene LDLRAP1, considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Familial_hypercholesterolemia', 'Hypercholesterolemia,_familial,_4'] | AGTCCTTAAGGACAGCCCTGTGAAATAGATATAGTTGTCCCTTTTACAGATGAGGCTCAGAAGGGTGAGTTCACAACCACCAGAAGGACAGCTGGGTTCTAACCCCTGGCATTATACTCTACCCCATTGCCTATGGGCCTGAGTCTGATCCCAGTCTCTGACTCTCGGAGACTATCAGTGAATGCTTCCCTCCCTGACCTAGGGCTGTCATCTGTAAAGTGGGTCCACCTAAGCAGTGTTGCTGGGGAAGCCAAGGACAGACTGGCTAACAAAGCACTTGGTTTATAAACAGGGGAATGTCAGTGAGGCCGCCCTATCCA... | AGTCCTTAAGGACAGCCCTGTGAAATAGATATAGTTGTCCCTTTTACAGATGAGGCTCAGAAGGGTGAGTTCACAACCACCAGAAGGACAGCTGGGTTCTAACCCCTGGCATTATACTCTACCCCATTGCCTATGGGCCTGAGTCTGATCCCAGTCTCTGACTCTCGGAGACTATCAGTGAATGCTTCCCTCCCTGACCTAGGGCTGTCATCTGTAAAGTGGGTCCACCTAAGCAGTGTTGCTGGGGAAGCCAAGGACAGACTGGCTAACAAAGCACTTGGTTTATAAACAGGGGAATGTCAGTGAGGCCGCCCTATCCA... | pathogenic | 5,688 |
Determine if the mutation at chromosome 1, position 25543803 in gene LDLRAP1 is benign or pathogenic. If pathogenic, what disease(s) is associated? | benign | TTTTACAGATGAGGCTCAGAAGGGTGAGTTCACAACCACCAGAAGGACAGCTGGGTTCTAACCCCTGGCATTATACTCTACCCCATTGCCTATGGGCCTGAGTCTGATCCCAGTCTCTGACTCTCGGAGACTATCAGTGAATGCTTCCCTCCCTGACCTAGGGCTGTCATCTGTAAAGTGGGTCCACCTAAGCAGTGTTGCTGGGGAAGCCAAGGACAGACTGGCTAACAAAGCACTTGGTTTATAAACAGGGGAATGTCAGTGAGGCCGCCCTATCCAGCTGGGGACAGCACAGCACTATCTTTCTCCCGACACAGAGA... | TTTTACAGATGAGGCTCAGAAGGGTGAGTTCACAACCACCAGAAGGACAGCTGGGTTCTAACCCCTGGCATTATACTCTACCCCATTGCCTATGGGCCTGAGTCTGATCCCAGTCTCTGACTCTCGGAGACTATCAGTGAATGCTTCCCTCCCTGACCTAGGGCTGTCATCTGTAAAGTGGGTCCACCTAAGCAGTGTTGCTGGGGAAGCCAAGGACAGACTGGCTAACAAAGCACTTGGTTTATAAACAGGGGAATGTCAGTGAGGCCGCCCTATCCAGCTGGGGACAGCACAGCACTATCTTTCTCCCGACACAGAGA... | benign | 5,692 |
Is the variant located on chromosome 1 at position 25553942, gene LDLRAP1 (low density lipoprotein receptor adaptor protein 1), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Hypercholesterolemia,_familial,_4'] | AGGTTCTAGATGACAGTCAGTAAGTCCCTGCTCACCTGATCTCAAGACATGAGGGGAACTGGGTACATCTGTAAGTTCCTGTATAACCCTCCCCAGCCCTGACACCCGCACCCTCTTTCAGATGAAGAAATGGCCTCAGAGAGGGACAGTGGCTTGCTCAAGGCAAATCCAGAGAAATGTGGGTGTACAAGGCTCCTTCTGGCTGTGGAGAGGGGGACCAGAGCCCCTGGAGGCCCAGGGCTCTAGGATAGGAGCTGAGAGGGGCAGCAGGGATCCAGACTGGGTAGGGGACCTGGTGATGCCACCTGGACCCAGACTTC... | AGGTTCTAGATGACAGTCAGTAAGTCCCTGCTCACCTGATCTCAAGACATGAGGGGAACTGGGTACATCTGTAAGTTCCTGTATAACCCTCCCCAGCCCTGACACCCGCACCCTCTTTCAGATGAAGAAATGGCCTCAGAGAGGGACAGTGGCTTGCTCAAGGCAAATCCAGAGAAATGTGGGTGTACAAGGCTCCTTCTGGCTGTGGAGAGGGGGACCAGAGCCCCTGGAGGCCCAGGGCTCTAGGATAGGAGCTGAGAGGGGCAGCAGGGATCCAGACTGGGTAGGGGACCTGGTGATGCCACCTGGACCCAGACTTC... | pathogenic | 5,696 |
Variant at chromosome 1, position 25553974, gene LDLRAP1 (low density lipoprotein receptor adaptor protein 1): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Hypercholesterolemia,_familial,_4'] | CACCTGATCTCAAGACATGAGGGGAACTGGGTACATCTGTAAGTTCCTGTATAACCCTCCCCAGCCCTGACACCCGCACCCTCTTTCAGATGAAGAAATGGCCTCAGAGAGGGACAGTGGCTTGCTCAAGGCAAATCCAGAGAAATGTGGGTGTACAAGGCTCCTTCTGGCTGTGGAGAGGGGGACCAGAGCCCCTGGAGGCCCAGGGCTCTAGGATAGGAGCTGAGAGGGGCAGCAGGGATCCAGACTGGGTAGGGGACCTGGTGATGCCACCTGGACCCAGACTTCTGCTCTTGACAGAGCCGGAACTCCAGAACCAA... | CACCTGATCTCAAGACATGAGGGGAACTGGGTACATCTGTAAGTTCCTGTATAACCCTCCCCAGCCCTGACACCCGCACCCTCTTTCAGATGAAGAAATGGCCTCAGAGAGGGACAGTGGCTTGCTCAAGGCAAATCCAGAGAAATGTGGGTGTACAAGGCTCCTTCTGGCTGTGGAGAGGGGGACCAGAGCCCCTGGAGGCCCAGGGCTCTAGGATAGGAGCTGAGAGGGGCAGCAGGGATCCAGACTGGGTAGGGGACCTGGTGATGCCACCTGGACCCAGACTTCTGCTCTTGACAGAGCCGGAACTCCAGAACCAA... | pathogenic | 5,701 |
Is the genetic variant on chromosome 1, position 25557238, gene LDLRAP1 (low density lipoprotein receptor adaptor protein 1), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Hypercholesterolemia,_familial,_4'] | GGCAGCTGCTGCTGTCATCATCACCAGTTGCAGAAGACAGCTGAGCCCACCCGTGCCCTTCCCCCCTACTCCCCACCAGCATGCCGCTGAGTCGGGCTTGGAGCAGAGAACTGCAGAGTCACTGCCTTTTCCTTCTGCTGTGAATGCAGCAGCTCAGCTCTGGGTATCTGGCCAGACATTCCAGGGAGGCCTCAGCCAAGGTCTGAAGTCAGAGTATAGATGGTCTCTCTAGTGGGTCCTCTGGTCAGCCCTTAGAGCCTCAGACTATCCCCACCTCTCTCGGCTGGTCAGTTGTAGTTTTTCAGAACTGGAAGGGACAG... | GGCAGCTGCTGCTGTCATCATCACCAGTTGCAGAAGACAGCTGAGCCCACCCGTGCCCTTCCCCCCTACTCCCCACCAGCATGCCGCTGAGTCGGGCTTGGAGCAGAGAACTGCAGAGTCACTGCCTTTTCCTTCTGCTGTGAATGCAGCAGCTCAGCTCTGGGTATCTGGCCAGACATTCCAGGGAGGCCTCAGCCAAGGTCTGAAGTCAGAGTATAGATGGTCTCTCTAGTGGGTCCTCTGGTCAGCCCTTAGAGCCTCAGACTATCCCCACCTCTCTCGGCTGGTCAGTTGTAGTTTTTCAGAACTGGAAGGGACAG... | pathogenic | 5,720 |
The mutation impacting LDLRAP1 (low density lipoprotein receptor adaptor protein 1) on chromosome 1 at position 25562648: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Familial_hypercholesterolemia', 'Hypercholesterolemia,_familial,_4'] | TCCCCCATGACCATTGGCATCTTGGAGTGATCCTTGTGCAAGGTTTTTGCTTCTGGGGCAGCAGGGCTGCTGGGGGGCATGTGGCTGTCTTGGTTTGAGTTTCTGGCCCCTTTTGAGCCATGAGCAGCCTGGTTCCTGGGAACAAGGAATGTGAAAAACTGGGCAAGGTAGCATCCACTCAGGATAATAAGGCAGACCCGAAGGCCAGAGGCAGTCAGGAGGGGTGGGCATCCCGCCTGGGCAGGCCTGAGCAGTCCCTCCACCTAATGCTGGTCCTCGGATCCCTGCAGCCACCCCAGGAAGCAGGGCCCACCCCACTC... | TCCCCCATGACCATTGGCATCTTGGAGTGATCCTTGTGCAAGGTTTTTGCTTCTGGGGCAGCAGGGCTGCTGGGGGGCATGTGGCTGTCTTGGTTTGAGTTTCTGGCCCCTTTTGAGCCATGAGCAGCCTGGTTCCTGGGAACAAGGAATGTGAAAAACTGGGCAAGGTAGCATCCACTCAGGATAATAAGGCAGACCCGAAGGCCAGAGGCAGTCAGGAGGGGTGGGCATCCCGCCTGGGCAGGCCTGAGCAGTCCCTCCACCTAATGCTGGTCCTCGGATCCCTGCAGCCACCCCAGGAAGCAGGGCCCACCCCACTC... | pathogenic | 5,724 |
Considering the variant on chromosome 1, location 25563135, involving gene LDLRAP1 (low density lipoprotein receptor adaptor protein 1), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Familial_hypercholesterolemia', 'Hypercholesterolemia,_familial,_4'] | AGCAGGCTTAAATAATGGCGTTTTCATATCCCTGCCACATTGGGTGTCCAGCCCTTGCTTGGGTGGATAGTGATCTGACTTGGGCTGGTAATTAGCCCATATTTTTAGTTCATGGGCAATTCTCAATGGTAACTGGGTCTATTAAACTTGATTCAGATATGACAGCTTAAATTGTAAACAGCTGCGAAGAGTTTCATACTTAATTACCATATTTAAGTTTTGCCATAAAGTGCCTGTACTTCCATCAAAAATGTAAATGTTGGAGACATTCAAATGAGGTTTTATACTTTCGTGAAGTGTAATTGGCACGGATCAGTCAG... | AGCAGGCTTAAATAATGGCGTTTTCATATCCCTGCCACATTGGGTGTCCAGCCCTTGCTTGGGTGGATAGTGATCTGACTTGGGCTGGTAATTAGCCCATATTTTTAGTTCATGGGCAATTCTCAATGGTAACTGGGTCTATTAAACTTGATTCAGATATGACAGCTTAAATTGTAAACAGCTGCGAAGAGTTTCATACTTAATTACCATATTTAAGTTTTGCCATAAAGTGCCTGTACTTCCATCAAAAATGTAAATGTTGGAGACATTCAAATGAGGTTTTATACTTTCGTGAAGTGTAATTGGCACGGATCAGTCAG... | pathogenic | 5,730 |
Does the chromosome 1 mutation at position 25563697 within gene LDLRAP1 (low density lipoprotein receptor adaptor protein 1) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | benign | CTGATTAACCCTGGACTGGAATGGCTGAGAGAGGAAGGTGTTGAGATGAATATGGGCTGGGGATAGGTCCTGGGTGGAATGAGGCCTGCACCTCAGGTGAATGTAATTCACCCAGCATTGTTGCCACCTCTGGGAGGCTTTGGCCTGCTCCCGAGGGCAGGGGTGTTCAGATTGATTCTTGCTTTTAGGGTGCACAAAGCTGGGGGAAACACAGGCAGGGGAGCCAGTGACACTTTCACATGCATAGTGCCAGAGGGAGGTGGGTGGGGCTCGAGGAGTCTGGGACTGGTGACAGGAGAGGTGGTGACATCTGAGTTGGG... | CTGATTAACCCTGGACTGGAATGGCTGAGAGAGGAAGGTGTTGAGATGAATATGGGCTGGGGATAGGTCCTGGGTGGAATGAGGCCTGCACCTCAGGTGAATGTAATTCACCCAGCATTGTTGCCACCTCTGGGAGGCTTTGGCCTGCTCCCGAGGGCAGGGGTGTTCAGATTGATTCTTGCTTTTAGGGTGCACAAAGCTGGGGGAAACACAGGCAGGGGAGCCAGTGACACTTTCACATGCATAGTGCCAGAGGGAGGTGGGTGGGGCTCGAGGAGTCTGGGACTGGTGACAGGAGAGGTGGTGACATCTGAGTTGGG... | benign | 5,744 |
Variant in SELENON (selenoprotein N), chromosome 1, position 25800232—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Eichsfeld_type_congenital_muscular_dystrophy'] | CTCCAGTGGGAAACCAGCCCTGCTCCACTGCCAGTCCCAGAGCTGACACCTCCCAGAGCTGACATCTCCCAGAGCTGGGCCCAAGATTGATCCTTTTCACAGAGGCACACTGATCTGACCTGATTGTCATTAACCCACCCCCACTGTGCGCCTTCCCGAGCTTCTAGAATCATCCCCCAAGTCCCGCAAGCCCCAGAAACCCATTTCTTCAGCACTGGGCAGCAGAGACCAGTGGGGTATCTGTATCTTTAAGAAAAAGCAAGTGTAATAAATAAAAGTTATCTGGGAAAGAAAACTTCCTTTGTTTATTTTCCAGAAGC... | CTCCAGTGGGAAACCAGCCCTGCTCCACTGCCAGTCCCAGAGCTGACACCTCCCAGAGCTGACATCTCCCAGAGCTGGGCCCAAGATTGATCCTTTTCACAGAGGCACACTGATCTGACCTGATTGTCATTAACCCACCCCCACTGTGCGCCTTCCCGAGCTTCTAGAATCATCCCCCAAGTCCCGCAAGCCCCAGAAACCCATTTCTTCAGCACTGGGCAGCAGAGACCAGTGGGGTATCTGTATCTTTAAGAAAAAGCAAGTGTAATAAATAAAAGTTATCTGGGAAAGAAAACTTCCTTTGTTTATTTTCCAGAAGC... | pathogenic | 5,772 |
Benign or pathogenic: chromosome 1, position 25800232, gene SELENON (selenoprotein N) variant? Disease(s) if pathogenic? | pathogenic; ['Eichsfeld_type_congenital_muscular_dystrophy'] | CTCCAGTGGGAAACCAGCCCTGCTCCACTGCCAGTCCCAGAGCTGACACCTCCCAGAGCTGACATCTCCCAGAGCTGGGCCCAAGATTGATCCTTTTCACAGAGGCACACTGATCTGACCTGATTGTCATTAACCCACCCCCACTGTGCGCCTTCCCGAGCTTCTAGAATCATCCCCCAAGTCCCGCAAGCCCCAGAAACCCATTTCTTCAGCACTGGGCAGCAGAGACCAGTGGGGTATCTGTATCTTTAAGAAAAAGCAAGTGTAATAAATAAAAGTTATCTGGGAAAGAAAACTTCCTTTGTTTATTTTCCAGAAGC... | CTCCAGTGGGAAACCAGCCCTGCTCCACTGCCAGTCCCAGAGCTGACACCTCCCAGAGCTGACATCTCCCAGAGCTGGGCCCAAGATTGATCCTTTTCACAGAGGCACACTGATCTGACCTGATTGTCATTAACCCACCCCCACTGTGCGCCTTCCCGAGCTTCTAGAATCATCCCCCAAGTCCCGCAAGCCCCAGAAACCCATTTCTTCAGCACTGGGCAGCAGAGACCAGTGGGGTATCTGTATCTTTAAGAAAAAGCAAGTGTAATAAATAAAAGTTATCTGGGAAAGAAAACTTCCTTTGTTTATTTTCCAGAAGC... | pathogenic | 5,773 |
Is the genetic change at chromosome 1, position 25800233, within gene SELENON (selenoprotein N) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Eichsfeld_type_congenital_muscular_dystrophy'] | TCCAGTGGGAAACCAGCCCTGCTCCACTGCCAGTCCCAGAGCTGACACCTCCCAGAGCTGACATCTCCCAGAGCTGGGCCCAAGATTGATCCTTTTCACAGAGGCACACTGATCTGACCTGATTGTCATTAACCCACCCCCACTGTGCGCCTTCCCGAGCTTCTAGAATCATCCCCCAAGTCCCGCAAGCCCCAGAAACCCATTTCTTCAGCACTGGGCAGCAGAGACCAGTGGGGTATCTGTATCTTTAAGAAAAAGCAAGTGTAATAAATAAAAGTTATCTGGGAAAGAAAACTTCCTTTGTTTATTTTCCAGAAGCC... | TCCAGTGGGAAACCAGCCCTGCTCCACTGCCAGTCCCAGAGCTGACACCTCCCAGAGCTGACATCTCCCAGAGCTGGGCCCAAGATTGATCCTTTTCACAGAGGCACACTGATCTGACCTGATTGTCATTAACCCACCCCCACTGTGCGCCTTCCCGAGCTTCTAGAATCATCCCCCAAGTCCCGCAAGCCCCAGAAACCCATTTCTTCAGCACTGGGCAGCAGAGACCAGTGGGGTATCTGTATCTTTAAGAAAAAGCAAGTGTAATAAATAAAAGTTATCTGGGAAAGAAAACTTCCTTTGTTTATTTTCCAGAAGCC... | pathogenic | 5,774 |
Variant on chromosome 1, at position 25800270, affecting SELENON (selenoprotein N): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Eichsfeld_type_congenital_muscular_dystrophy'] | AGAGCTGACACCTCCCAGAGCTGACATCTCCCAGAGCTGGGCCCAAGATTGATCCTTTTCACAGAGGCACACTGATCTGACCTGATTGTCATTAACCCACCCCCACTGTGCGCCTTCCCGAGCTTCTAGAATCATCCCCCAAGTCCCGCAAGCCCCAGAAACCCATTTCTTCAGCACTGGGCAGCAGAGACCAGTGGGGTATCTGTATCTTTAAGAAAAAGCAAGTGTAATAAATAAAAGTTATCTGGGAAAGAAAACTTCCTTTGTTTATTTTCCAGAAGCCTTAGCTCATCAATCTTCCCCTCCTAACCTGCTTTGTG... | AGAGCTGACACCTCCCAGAGCTGACATCTCCCAGAGCTGGGCCCAAGATTGATCCTTTTCACAGAGGCACACTGATCTGACCTGATTGTCATTAACCCACCCCCACTGTGCGCCTTCCCGAGCTTCTAGAATCATCCCCCAAGTCCCGCAAGCCCCAGAAACCCATTTCTTCAGCACTGGGCAGCAGAGACCAGTGGGGTATCTGTATCTTTAAGAAAAAGCAAGTGTAATAAATAAAAGTTATCTGGGAAAGAAAACTTCCTTTGTTTATTTTCCAGAAGCCTTAGCTCATCAATCTTCCCCTCCTAACCTGCTTTGTG... | pathogenic | 5,776 |
A mutation at chromosome position 25800291 on chromosome 1 in gene SELENON (selenoprotein N): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Eichsfeld_type_congenital_muscular_dystrophy'] | TGACATCTCCCAGAGCTGGGCCCAAGATTGATCCTTTTCACAGAGGCACACTGATCTGACCTGATTGTCATTAACCCACCCCCACTGTGCGCCTTCCCGAGCTTCTAGAATCATCCCCCAAGTCCCGCAAGCCCCAGAAACCCATTTCTTCAGCACTGGGCAGCAGAGACCAGTGGGGTATCTGTATCTTTAAGAAAAAGCAAGTGTAATAAATAAAAGTTATCTGGGAAAGAAAACTTCCTTTGTTTATTTTCCAGAAGCCTTAGCTCATCAATCTTCCCCTCCTAACCTGCTTTGTGCTCTACTAGTTTTGCTTCCAA... | TGACATCTCCCAGAGCTGGGCCCAAGATTGATCCTTTTCACAGAGGCACACTGATCTGACCTGATTGTCATTAACCCACCCCCACTGTGCGCCTTCCCGAGCTTCTAGAATCATCCCCCAAGTCCCGCAAGCCCCAGAAACCCATTTCTTCAGCACTGGGCAGCAGAGACCAGTGGGGTATCTGTATCTTTAAGAAAAAGCAAGTGTAATAAATAAAAGTTATCTGGGAAAGAAAACTTCCTTTGTTTATTTTCCAGAAGCCTTAGCTCATCAATCTTCCCCTCCTAACCTGCTTTGTGCTCTACTAGTTTTGCTTCCAA... | pathogenic | 5,778 |
Variant at chromosome position 25800369, chromosome 1, gene SELENON (selenoprotein N): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Eichsfeld_type_congenital_muscular_dystrophy'] | CCCCCACTGTGCGCCTTCCCGAGCTTCTAGAATCATCCCCCAAGTCCCGCAAGCCCCAGAAACCCATTTCTTCAGCACTGGGCAGCAGAGACCAGTGGGGTATCTGTATCTTTAAGAAAAAGCAAGTGTAATAAATAAAAGTTATCTGGGAAAGAAAACTTCCTTTGTTTATTTTCCAGAAGCCTTAGCTCATCAATCTTCCCCTCCTAACCTGCTTTGTGCTCTACTAGTTTTGCTTCCAATAGAATAGAATTTGGTTTTCTAGTATCATGTATCGTACACAGGGTGTCCCCAAACAGTAGCAATAATGAGTTGAAAGT... | CCCCCACTGTGCGCCTTCCCGAGCTTCTAGAATCATCCCCCAAGTCCCGCAAGCCCCAGAAACCCATTTCTTCAGCACTGGGCAGCAGAGACCAGTGGGGTATCTGTATCTTTAAGAAAAAGCAAGTGTAATAAATAAAAGTTATCTGGGAAAGAAAACTTCCTTTGTTTATTTTCCAGAAGCCTTAGCTCATCAATCTTCCCCTCCTAACCTGCTTTGTGCTCTACTAGTTTTGCTTCCAATAGAATAGAATTTGGTTTTCTAGTATCATGTATCGTACACAGGGTGTCCCCAAACAGTAGCAATAATGAGTTGAAAGT... | pathogenic | 5,779 |
Clinical classification of chromosome 1, position 25801105, gene SELENON (selenoprotein N): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Eichsfeld_type_congenital_muscular_dystrophy'] | GAGAGAATGTGTAAATCACCCCACCTGAAGTCCAGCACATGGGCAGAGCTCAGCATCCTTTGGATCCCTCAGGCCTGACAGGTGCCCCTGCGCTGGGGGGGTTGGTGGGGCTCTGCAAAGGCAGGCACTGCTCACCTCTGGGCTCAGAATTCTTGTCTAGAGGCTTCTGCAGCTGCCACCCTCGCCTGAGAAAATGCAGGTAGAGACATCTAGAGCCACCCCATGGTAACTGGGGGCTTTGAAAGAATGGAAGAGAGCCCCAAGGAACCAAGGTCCTGGGGATTGACAGGCATGAAAATATGTCCTCAACACCACCCACC... | GAGAGAATGTGTAAATCACCCCACCTGAAGTCCAGCACATGGGCAGAGCTCAGCATCCTTTGGATCCCTCAGGCCTGACAGGTGCCCCTGCGCTGGGGGGGTTGGTGGGGCTCTGCAAAGGCAGGCACTGCTCACCTCTGGGCTCAGAATTCTTGTCTAGAGGCTTCTGCAGCTGCCACCCTCGCCTGAGAAAATGCAGGTAGAGACATCTAGAGCCACCCCATGGTAACTGGGGGCTTTGAAAGAATGGAAGAGAGCCCCAAGGAACCAAGGTCCTGGGGATTGACAGGCATGAAAATATGTCCTCAACACCACCCACC... | pathogenic | 5,785 |
Regarding the variant at chromosome 1 and position 25808724, affecting gene SELENON (selenoprotein N): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Eichsfeld_type_congenital_muscular_dystrophy'] | CAGCAGCAGCCCCTTGGCAGTGCCCAACTCTAGAGCCTGGCAGCCACATGGCAAAAGAAACTTGGGAATGACCTTGAGGCTGGCACCTGTGGCGGAATTGCCACCTGGCCCAGCCCAGGGAAGCAGTGCTGGGGAGCCCCTTTCTTTTTTTTTTTTTTTTTTTTGGGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCTGCTCACTGCAAGCTCCGCCTCCCGGGTTCAAGCTATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCACCACCACACCCGGCTAATTTCTTT... | CAGCAGCAGCCCCTTGGCAGTGCCCAACTCTAGAGCCTGGCAGCCACATGGCAAAAGAAACTTGGGAATGACCTTGAGGCTGGCACCTGTGGCGGAATTGCCACCTGGCCCAGCCCAGGGAAGCAGTGCTGGGGAGCCCCTTTCTTTTTTTTTTTTTTTTTTTTGGGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCTGCTCACTGCAAGCTCCGCCTCCCGGGTTCAAGCTATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCACCACCACACCCGGCTAATTTCTTT... | pathogenic | 5,800 |
Mutation found at chromosome 1 position 25808753, gene SELENON (selenoprotein N): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Congenital_myopathy_with_fiber_type_disproportion', 'Eichsfeld_type_congenital_muscular_dystrophy', 'SELENON-related_disorder'] | CTAGAGCCTGGCAGCCACATGGCAAAAGAAACTTGGGAATGACCTTGAGGCTGGCACCTGTGGCGGAATTGCCACCTGGCCCAGCCCAGGGAAGCAGTGCTGGGGAGCCCCTTTCTTTTTTTTTTTTTTTTTTTTGGGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCTGCTCACTGCAAGCTCCGCCTCCCGGGTTCAAGCTATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCACCACCACACCCGGCTAATTTCTTTGTATTTTTAGTAGAGACGGGGTTTCACCA... | CTAGAGCCTGGCAGCCACATGGCAAAAGAAACTTGGGAATGACCTTGAGGCTGGCACCTGTGGCGGAATTGCCACCTGGCCCAGCCCAGGGAAGCAGTGCTGGGGAGCCCCTTTCTTTTTTTTTTTTTTTTTTTTGGGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCTGCTCACTGCAAGCTCCGCCTCCCGGGTTCAAGCTATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCACCACCACACCCGGCTAATTTCTTTGTATTTTTAGTAGAGACGGGGTTTCACCA... | pathogenic | 5,802 |
Chromosome 1, position 25808786, gene SELENON (selenoprotein N): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Eichsfeld_type_congenital_muscular_dystrophy', 'Muscular_dystrophy', 'SELENON-related_myopathy'] | TGGGAATGACCTTGAGGCTGGCACCTGTGGCGGAATTGCCACCTGGCCCAGCCCAGGGAAGCAGTGCTGGGGAGCCCCTTTCTTTTTTTTTTTTTTTTTTTTGGGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCTGCTCACTGCAAGCTCCGCCTCCCGGGTTCAAGCTATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCACCACCACACCCGGCTAATTTCTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGACCAGGATGGTTTCAATCTCCTGACCTC... | TGGGAATGACCTTGAGGCTGGCACCTGTGGCGGAATTGCCACCTGGCCCAGCCCAGGGAAGCAGTGCTGGGGAGCCCCTTTCTTTTTTTTTTTTTTTTTTTTGGGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCTGCTCACTGCAAGCTCCGCCTCCCGGGTTCAAGCTATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCACCACCACACCCGGCTAATTTCTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGACCAGGATGGTTTCAATCTCCTGACCTC... | pathogenic | 5,804 |
Chromosome 1, position 25809021, gene SELENON (selenoprotein N): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Eichsfeld_type_congenital_muscular_dystrophy'] | CACCACACCCGGCTAATTTCTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGACCAGGATGGTTTCAATCTCCTGACCTCGTGATCCACCTGCCTCGGCCTCCCGAATTATAGGCGTACAGGGATTATAGGGATTACAGGTGTGAGCCACCATGCCCGGCCGGGAGCCCCTTTCTTAACCTCATCGCTGCAGGTTCAGGGAGGGACAGAAATTCCAAGGAGGAGCTCACAGGGAAGGGCATTGCCCGTTTTGGGTCCTGTTTACTTGCCGTCTCCCACTATAAGCTCCAAGAAGACAGGGTGCACAGTGTACCCT... | CACCACACCCGGCTAATTTCTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGACCAGGATGGTTTCAATCTCCTGACCTCGTGATCCACCTGCCTCGGCCTCCCGAATTATAGGCGTACAGGGATTATAGGGATTACAGGTGTGAGCCACCATGCCCGGCCGGGAGCCCCTTTCTTAACCTCATCGCTGCAGGTTCAGGGAGGGACAGAAATTCCAAGGAGGAGCTCACAGGGAAGGGCATTGCCCGTTTTGGGTCCTGTTTACTTGCCGTCTCCCACTATAAGCTCCAAGAAGACAGGGTGCACAGTGTACCCT... | pathogenic | 5,808 |
Variant on chromosome 1, at position 25809104, affecting SELENON (selenoprotein N): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Congenital_myopathy_4A,_autosomal_dominant', 'Congenital_myopathy_with_fiber_type_disproportion', 'Eichsfeld_type_congenital_muscular_dystrophy'] | TCGTGATCCACCTGCCTCGGCCTCCCGAATTATAGGCGTACAGGGATTATAGGGATTACAGGTGTGAGCCACCATGCCCGGCCGGGAGCCCCTTTCTTAACCTCATCGCTGCAGGTTCAGGGAGGGACAGAAATTCCAAGGAGGAGCTCACAGGGAAGGGCATTGCCCGTTTTGGGTCCTGTTTACTTGCCGTCTCCCACTATAAGCTCCAAGAAGACAGGGTGCACAGTGTACCCTGATAGAAACTTCCTATACAGTAGGTGCATAAAACATTTTGTGGAATGAACAAATGAATAAACGTGTTCTTCTCAGCCAAGGAG... | TCGTGATCCACCTGCCTCGGCCTCCCGAATTATAGGCGTACAGGGATTATAGGGATTACAGGTGTGAGCCACCATGCCCGGCCGGGAGCCCCTTTCTTAACCTCATCGCTGCAGGTTCAGGGAGGGACAGAAATTCCAAGGAGGAGCTCACAGGGAAGGGCATTGCCCGTTTTGGGTCCTGTTTACTTGCCGTCTCCCACTATAAGCTCCAAGAAGACAGGGTGCACAGTGTACCCTGATAGAAACTTCCTATACAGTAGGTGCATAAAACATTTTGTGGAATGAACAAATGAATAAACGTGTTCTTCTCAGCCAAGGAG... | pathogenic | 5,811 |
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