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 |
|---|---|---|---|---|---|
Is the genetic variant on chromosome 15, position 90760212, gene BLM (BLM RecQ like helicase), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Bloom_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | GCCACCATACCCAGGCGCAGCTGAGGTTTTAGATGAAGGAAAGGGCTGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGACCGAGGTGAGTGGATCATTTGAGGTTTAGGAGTTCGAGTCCAGCCTGCCCAATGTGGCAAATCCCCATCTCTAATAAAAATACAAAAAAGCCGAGCGTGGTAGCGTGTGCTTGTAGTCCCAGGCACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCGGGGAAACGGAGGTTGCAGTAAGCCGACATTGCACCACTGCACTCCAGCCTGGAAGACAGAGCAAGAATCTGT... | GCCACCATACCCAGGCGCAGCTGAGGTTTTAGATGAAGGAAAGGGCTGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGACCGAGGTGAGTGGATCATTTGAGGTTTAGGAGTTCGAGTCCAGCCTGCCCAATGTGGCAAATCCCCATCTCTAATAAAAATACAAAAAAGCCGAGCGTGGTAGCGTGTGCTTGTAGTCCCAGGCACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCGGGGAAACGGAGGTTGCAGTAAGCCGACATTGCACCACTGCACTCCAGCCTGGAAGACAGAGCAAGAATCTGT... | pathogenic | 238,977 |
Clinical classification of chromosome 15, position 90760230, gene BLM (BLM RecQ like helicase): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Bloom_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | AGCTGAGGTTTTAGATGAAGGAAAGGGCTGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGACCGAGGTGAGTGGATCATTTGAGGTTTAGGAGTTCGAGTCCAGCCTGCCCAATGTGGCAAATCCCCATCTCTAATAAAAATACAAAAAAGCCGAGCGTGGTAGCGTGTGCTTGTAGTCCCAGGCACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCGGGGAAACGGAGGTTGCAGTAAGCCGACATTGCACCACTGCACTCCAGCCTGGAAGACAGAGCAAGAATCTGTCTCAAAAAATAAAATAAA... | AGCTGAGGTTTTAGATGAAGGAAAGGGCTGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGACCGAGGTGAGTGGATCATTTGAGGTTTAGGAGTTCGAGTCCAGCCTGCCCAATGTGGCAAATCCCCATCTCTAATAAAAATACAAAAAAGCCGAGCGTGGTAGCGTGTGCTTGTAGTCCCAGGCACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCGGGGAAACGGAGGTTGCAGTAAGCCGACATTGCACCACTGCACTCCAGCCTGGAAGACAGAGCAAGAATCTGTCTCAAAAAATAAAATAAA... | pathogenic | 238,978 |
Does the variant impacting BLM (BLM RecQ like helicase) on chromosome 15, position 90760232, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Bloom_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | CTGAGGTTTTAGATGAAGGAAAGGGCTGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGACCGAGGTGAGTGGATCATTTGAGGTTTAGGAGTTCGAGTCCAGCCTGCCCAATGTGGCAAATCCCCATCTCTAATAAAAATACAAAAAAGCCGAGCGTGGTAGCGTGTGCTTGTAGTCCCAGGCACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCGGGGAAACGGAGGTTGCAGTAAGCCGACATTGCACCACTGCACTCCAGCCTGGAAGACAGAGCAAGAATCTGTCTCAAAAAATAAAATAAAAT... | CTGAGGTTTTAGATGAAGGAAAGGGCTGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGACCGAGGTGAGTGGATCATTTGAGGTTTAGGAGTTCGAGTCCAGCCTGCCCAATGTGGCAAATCCCCATCTCTAATAAAAATACAAAAAAGCCGAGCGTGGTAGCGTGTGCTTGTAGTCCCAGGCACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCGGGGAAACGGAGGTTGCAGTAAGCCGACATTGCACCACTGCACTCCAGCCTGGAAGACAGAGCAAGAATCTGTCTCAAAAAATAAAATAAAAT... | pathogenic | 238,979 |
Does the chromosome 15 mutation at position 90760236 within gene BLM (BLM RecQ like helicase) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Bloom_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | GGTTTTAGATGAAGGAAAGGGCTGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGACCGAGGTGAGTGGATCATTTGAGGTTTAGGAGTTCGAGTCCAGCCTGCCCAATGTGGCAAATCCCCATCTCTAATAAAAATACAAAAAAGCCGAGCGTGGTAGCGTGTGCTTGTAGTCCCAGGCACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCGGGGAAACGGAGGTTGCAGTAAGCCGACATTGCACCACTGCACTCCAGCCTGGAAGACAGAGCAAGAATCTGTCTCAAAAAATAAAATAAAATAAAA... | GGTTTTAGATGAAGGAAAGGGCTGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGACCGAGGTGAGTGGATCATTTGAGGTTTAGGAGTTCGAGTCCAGCCTGCCCAATGTGGCAAATCCCCATCTCTAATAAAAATACAAAAAAGCCGAGCGTGGTAGCGTGTGCTTGTAGTCCCAGGCACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCGGGGAAACGGAGGTTGCAGTAAGCCGACATTGCACCACTGCACTCCAGCCTGGAAGACAGAGCAAGAATCTGTCTCAAAAAATAAAATAAAATAAAA... | pathogenic | 238,980 |
Chromosome 15, position 90760688, gene BLM (BLM RecQ like helicase): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Bloom_syndrome'] | TTCTGTCCCATCTCTCCGGGTCAAACCTCCATTTCTTTCTATGTGCTTTCTACTTTTCCTTTGTATCAATCTTATTTGAAATCTGTCTTTCTTTATAAGGTGACAGAAATGGCCACCAGAATCATATTAAGCTTGGAAAAAGGGAGGTACTTTTTCCCAGTCAGCCCTAAGTATTTCCAGAGTTAATTTTCACTGGGCTGCCTTGTGTCAGATGCCTACTGAGGGAGTGGGAAGGGTAGGTCTAATAGGAAATCTTGGTAACAGTATATGTTACCATTAAAGGGAAGCCTGGATTCCAGGCAGATCAAAACAACAGGTAG... | TTCTGTCCCATCTCTCCGGGTCAAACCTCCATTTCTTTCTATGTGCTTTCTACTTTTCCTTTGTATCAATCTTATTTGAAATCTGTCTTTCTTTATAAGGTGACAGAAATGGCCACCAGAATCATATTAAGCTTGGAAAAAGGGAGGTACTTTTTCCCAGTCAGCCCTAAGTATTTCCAGAGTTAATTTTCACTGGGCTGCCTTGTGTCAGATGCCTACTGAGGGAGTGGGAAGGGTAGGTCTAATAGGAAATCTTGGTAACAGTATATGTTACCATTAAAGGGAAGCCTGGATTCCAGGCAGATCAAAACAACAGGTAG... | pathogenic | 239,005 |
The mutation in gene BLM (BLM RecQ like helicase) at chromosome 15, position 90760711—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Bloom_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | AACCTCCATTTCTTTCTATGTGCTTTCTACTTTTCCTTTGTATCAATCTTATTTGAAATCTGTCTTTCTTTATAAGGTGACAGAAATGGCCACCAGAATCATATTAAGCTTGGAAAAAGGGAGGTACTTTTTCCCAGTCAGCCCTAAGTATTTCCAGAGTTAATTTTCACTGGGCTGCCTTGTGTCAGATGCCTACTGAGGGAGTGGGAAGGGTAGGTCTAATAGGAAATCTTGGTAACAGTATATGTTACCATTAAAGGGAAGCCTGGATTCCAGGCAGATCAAAACAACAGGTAGGGCTCTTGCCTGTCCAACGCTTA... | AACCTCCATTTCTTTCTATGTGCTTTCTACTTTTCCTTTGTATCAATCTTATTTGAAATCTGTCTTTCTTTATAAGGTGACAGAAATGGCCACCAGAATCATATTAAGCTTGGAAAAAGGGAGGTACTTTTTCCCAGTCAGCCCTAAGTATTTCCAGAGTTAATTTTCACTGGGCTGCCTTGTGTCAGATGCCTACTGAGGGAGTGGGAAGGGTAGGTCTAATAGGAAATCTTGGTAACAGTATATGTTACCATTAAAGGGAAGCCTGGATTCCAGGCAGATCAAAACAACAGGTAGGGCTCTTGCCTGTCCAACGCTTA... | pathogenic | 239,009 |
Does the chromosome 15 mutation at position 90760718 within gene BLM (BLM RecQ like helicase) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Bloom_syndrome'] | ATTTCTTTCTATGTGCTTTCTACTTTTCCTTTGTATCAATCTTATTTGAAATCTGTCTTTCTTTATAAGGTGACAGAAATGGCCACCAGAATCATATTAAGCTTGGAAAAAGGGAGGTACTTTTTCCCAGTCAGCCCTAAGTATTTCCAGAGTTAATTTTCACTGGGCTGCCTTGTGTCAGATGCCTACTGAGGGAGTGGGAAGGGTAGGTCTAATAGGAAATCTTGGTAACAGTATATGTTACCATTAAAGGGAAGCCTGGATTCCAGGCAGATCAAAACAACAGGTAGGGCTCTTGCCTGTCCAACGCTTAACAATAC... | ATTTCTTTCTATGTGCTTTCTACTTTTCCTTTGTATCAATCTTATTTGAAATCTGTCTTTCTTTATAAGGTGACAGAAATGGCCACCAGAATCATATTAAGCTTGGAAAAAGGGAGGTACTTTTTCCCAGTCAGCCCTAAGTATTTCCAGAGTTAATTTTCACTGGGCTGCCTTGTGTCAGATGCCTACTGAGGGAGTGGGAAGGGTAGGTCTAATAGGAAATCTTGGTAACAGTATATGTTACCATTAAAGGGAAGCCTGGATTCCAGGCAGATCAAAACAACAGGTAGGGCTCTTGCCTGTCCAACGCTTAACAATAC... | pathogenic | 239,010 |
A genetic variant at chromosome 15, position 90760768, affecting gene BLM (BLM RecQ like helicase)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Bloom_syndrome'] | ATCTGTCTTTCTTTATAAGGTGACAGAAATGGCCACCAGAATCATATTAAGCTTGGAAAAAGGGAGGTACTTTTTCCCAGTCAGCCCTAAGTATTTCCAGAGTTAATTTTCACTGGGCTGCCTTGTGTCAGATGCCTACTGAGGGAGTGGGAAGGGTAGGTCTAATAGGAAATCTTGGTAACAGTATATGTTACCATTAAAGGGAAGCCTGGATTCCAGGCAGATCAAAACAACAGGTAGGGCTCTTGCCTGTCCAACGCTTAACAATACACTTTGTGTTGGCACAGTGAGCTTTGCACATGAAGTTAGTTAAAAATAAA... | ATCTGTCTTTCTTTATAAGGTGACAGAAATGGCCACCAGAATCATATTAAGCTTGGAAAAAGGGAGGTACTTTTTCCCAGTCAGCCCTAAGTATTTCCAGAGTTAATTTTCACTGGGCTGCCTTGTGTCAGATGCCTACTGAGGGAGTGGGAAGGGTAGGTCTAATAGGAAATCTTGGTAACAGTATATGTTACCATTAAAGGGAAGCCTGGATTCCAGGCAGATCAAAACAACAGGTAGGGCTCTTGCCTGTCCAACGCTTAACAATACACTTTGTGTTGGCACAGTGAGCTTTGCACATGAAGTTAGTTAAAAATAAA... | pathogenic | 239,017 |
Does the genetic variant at chromosome 15, position 90760779, impacting gene BLM (BLM RecQ like helicase), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Bloom_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TTTATAAGGTGACAGAAATGGCCACCAGAATCATATTAAGCTTGGAAAAAGGGAGGTACTTTTTCCCAGTCAGCCCTAAGTATTTCCAGAGTTAATTTTCACTGGGCTGCCTTGTGTCAGATGCCTACTGAGGGAGTGGGAAGGGTAGGTCTAATAGGAAATCTTGGTAACAGTATATGTTACCATTAAAGGGAAGCCTGGATTCCAGGCAGATCAAAACAACAGGTAGGGCTCTTGCCTGTCCAACGCTTAACAATACACTTTGTGTTGGCACAGTGAGCTTTGCACATGAAGTTAGTTAAAAATAAAATCATAGTTAA... | TTTATAAGGTGACAGAAATGGCCACCAGAATCATATTAAGCTTGGAAAAAGGGAGGTACTTTTTCCCAGTCAGCCCTAAGTATTTCCAGAGTTAATTTTCACTGGGCTGCCTTGTGTCAGATGCCTACTGAGGGAGTGGGAAGGGTAGGTCTAATAGGAAATCTTGGTAACAGTATATGTTACCATTAAAGGGAAGCCTGGATTCCAGGCAGATCAAAACAACAGGTAGGGCTCTTGCCTGTCCAACGCTTAACAATACACTTTGTGTTGGCACAGTGAGCTTTGCACATGAAGTTAGTTAAAAATAAAATCATAGTTAA... | pathogenic | 239,020 |
Variant at chromosome position 90760799, chromosome 15, gene BLM (BLM RecQ like helicase): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Bloom_syndrome'] | GCCACCAGAATCATATTAAGCTTGGAAAAAGGGAGGTACTTTTTCCCAGTCAGCCCTAAGTATTTCCAGAGTTAATTTTCACTGGGCTGCCTTGTGTCAGATGCCTACTGAGGGAGTGGGAAGGGTAGGTCTAATAGGAAATCTTGGTAACAGTATATGTTACCATTAAAGGGAAGCCTGGATTCCAGGCAGATCAAAACAACAGGTAGGGCTCTTGCCTGTCCAACGCTTAACAATACACTTTGTGTTGGCACAGTGAGCTTTGCACATGAAGTTAGTTAAAAATAAAATCATAGTTAACTGATAAACCTTTGTTCCAG... | GCCACCAGAATCATATTAAGCTTGGAAAAAGGGAGGTACTTTTTCCCAGTCAGCCCTAAGTATTTCCAGAGTTAATTTTCACTGGGCTGCCTTGTGTCAGATGCCTACTGAGGGAGTGGGAAGGGTAGGTCTAATAGGAAATCTTGGTAACAGTATATGTTACCATTAAAGGGAAGCCTGGATTCCAGGCAGATCAAAACAACAGGTAGGGCTCTTGCCTGTCCAACGCTTAACAATACACTTTGTGTTGGCACAGTGAGCTTTGCACATGAAGTTAGTTAAAAATAAAATCATAGTTAACTGATAAACCTTTGTTCCAG... | pathogenic | 239,023 |
The genetic variant at chromosome 15, position 90760801, affecting gene BLM (BLM RecQ like helicase): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Bloom_syndrome'] | CACCAGAATCATATTAAGCTTGGAAAAAGGGAGGTACTTTTTCCCAGTCAGCCCTAAGTATTTCCAGAGTTAATTTTCACTGGGCTGCCTTGTGTCAGATGCCTACTGAGGGAGTGGGAAGGGTAGGTCTAATAGGAAATCTTGGTAACAGTATATGTTACCATTAAAGGGAAGCCTGGATTCCAGGCAGATCAAAACAACAGGTAGGGCTCTTGCCTGTCCAACGCTTAACAATACACTTTGTGTTGGCACAGTGAGCTTTGCACATGAAGTTAGTTAAAAATAAAATCATAGTTAACTGATAAACCTTTGTTCCAGCC... | CACCAGAATCATATTAAGCTTGGAAAAAGGGAGGTACTTTTTCCCAGTCAGCCCTAAGTATTTCCAGAGTTAATTTTCACTGGGCTGCCTTGTGTCAGATGCCTACTGAGGGAGTGGGAAGGGTAGGTCTAATAGGAAATCTTGGTAACAGTATATGTTACCATTAAAGGGAAGCCTGGATTCCAGGCAGATCAAAACAACAGGTAGGGCTCTTGCCTGTCCAACGCTTAACAATACACTTTGTGTTGGCACAGTGAGCTTTGCACATGAAGTTAGTTAAAAATAAAATCATAGTTAACTGATAAACCTTTGTTCCAGCC... | pathogenic | 239,024 |
The chromosome 15, position 90760812 genetic variant in gene BLM (BLM RecQ like helicase): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Bloom_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TATTAAGCTTGGAAAAAGGGAGGTACTTTTTCCCAGTCAGCCCTAAGTATTTCCAGAGTTAATTTTCACTGGGCTGCCTTGTGTCAGATGCCTACTGAGGGAGTGGGAAGGGTAGGTCTAATAGGAAATCTTGGTAACAGTATATGTTACCATTAAAGGGAAGCCTGGATTCCAGGCAGATCAAAACAACAGGTAGGGCTCTTGCCTGTCCAACGCTTAACAATACACTTTGTGTTGGCACAGTGAGCTTTGCACATGAAGTTAGTTAAAAATAAAATCATAGTTAACTGATAAACCTTTGTTCCAGCCAATGACCTTGC... | TATTAAGCTTGGAAAAAGGGAGGTACTTTTTCCCAGTCAGCCCTAAGTATTTCCAGAGTTAATTTTCACTGGGCTGCCTTGTGTCAGATGCCTACTGAGGGAGTGGGAAGGGTAGGTCTAATAGGAAATCTTGGTAACAGTATATGTTACCATTAAAGGGAAGCCTGGATTCCAGGCAGATCAAAACAACAGGTAGGGCTCTTGCCTGTCCAACGCTTAACAATACACTTTGTGTTGGCACAGTGAGCTTTGCACATGAAGTTAGTTAAAAATAAAATCATAGTTAACTGATAAACCTTTGTTCCAGCCAATGACCTTGC... | pathogenic | 239,026 |
Clinical impact (benign or pathogenic) of the variant at chromosome 15, location 90760850, gene BLM (BLM RecQ like helicase): what disease(s) if pathogenic? | pathogenic; ['Bloom_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | AGCCCTAAGTATTTCCAGAGTTAATTTTCACTGGGCTGCCTTGTGTCAGATGCCTACTGAGGGAGTGGGAAGGGTAGGTCTAATAGGAAATCTTGGTAACAGTATATGTTACCATTAAAGGGAAGCCTGGATTCCAGGCAGATCAAAACAACAGGTAGGGCTCTTGCCTGTCCAACGCTTAACAATACACTTTGTGTTGGCACAGTGAGCTTTGCACATGAAGTTAGTTAAAAATAAAATCATAGTTAACTGATAAACCTTTGTTCCAGCCAATGACCTTGCTTACCCCAAGAAATATTATTTATTAAATATTATGAAAT... | AGCCCTAAGTATTTCCAGAGTTAATTTTCACTGGGCTGCCTTGTGTCAGATGCCTACTGAGGGAGTGGGAAGGGTAGGTCTAATAGGAAATCTTGGTAACAGTATATGTTACCATTAAAGGGAAGCCTGGATTCCAGGCAGATCAAAACAACAGGTAGGGCTCTTGCCTGTCCAACGCTTAACAATACACTTTGTGTTGGCACAGTGAGCTTTGCACATGAAGTTAGTTAAAAATAAAATCATAGTTAACTGATAAACCTTTGTTCCAGCCAATGACCTTGCTTACCCCAAGAAATATTATTTATTAAATATTATGAAAT... | pathogenic | 239,032 |
Chromosome 15, position 90760857, gene BLM (BLM RecQ like helicase): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Bloom_syndrome'] | AGTATTTCCAGAGTTAATTTTCACTGGGCTGCCTTGTGTCAGATGCCTACTGAGGGAGTGGGAAGGGTAGGTCTAATAGGAAATCTTGGTAACAGTATATGTTACCATTAAAGGGAAGCCTGGATTCCAGGCAGATCAAAACAACAGGTAGGGCTCTTGCCTGTCCAACGCTTAACAATACACTTTGTGTTGGCACAGTGAGCTTTGCACATGAAGTTAGTTAAAAATAAAATCATAGTTAACTGATAAACCTTTGTTCCAGCCAATGACCTTGCTTACCCCAAGAAATATTATTTATTAAATATTATGAAATTAAATGA... | AGTATTTCCAGAGTTAATTTTCACTGGGCTGCCTTGTGTCAGATGCCTACTGAGGGAGTGGGAAGGGTAGGTCTAATAGGAAATCTTGGTAACAGTATATGTTACCATTAAAGGGAAGCCTGGATTCCAGGCAGATCAAAACAACAGGTAGGGCTCTTGCCTGTCCAACGCTTAACAATACACTTTGTGTTGGCACAGTGAGCTTTGCACATGAAGTTAGTTAAAAATAAAATCATAGTTAACTGATAAACCTTTGTTCCAGCCAATGACCTTGCTTACCCCAAGAAATATTATTTATTAAATATTATGAAATTAAATGA... | pathogenic | 239,035 |
Evaluate if the mutation on chromosome 15 at position 90760870 in BLM (BLM RecQ like helicase) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Bloom_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TTAATTTTCACTGGGCTGCCTTGTGTCAGATGCCTACTGAGGGAGTGGGAAGGGTAGGTCTAATAGGAAATCTTGGTAACAGTATATGTTACCATTAAAGGGAAGCCTGGATTCCAGGCAGATCAAAACAACAGGTAGGGCTCTTGCCTGTCCAACGCTTAACAATACACTTTGTGTTGGCACAGTGAGCTTTGCACATGAAGTTAGTTAAAAATAAAATCATAGTTAACTGATAAACCTTTGTTCCAGCCAATGACCTTGCTTACCCCAAGAAATATTATTTATTAAATATTATGAAATTAAATGAAAACAGTTATGAG... | TTAATTTTCACTGGGCTGCCTTGTGTCAGATGCCTACTGAGGGAGTGGGAAGGGTAGGTCTAATAGGAAATCTTGGTAACAGTATATGTTACCATTAAAGGGAAGCCTGGATTCCAGGCAGATCAAAACAACAGGTAGGGCTCTTGCCTGTCCAACGCTTAACAATACACTTTGTGTTGGCACAGTGAGCTTTGCACATGAAGTTAGTTAAAAATAAAATCATAGTTAACTGATAAACCTTTGTTCCAGCCAATGACCTTGCTTACCCCAAGAAATATTATTTATTAAATATTATGAAATTAAATGAAAACAGTTATGAG... | pathogenic | 239,042 |
Variant at chromosome position 90760908, chromosome 15, gene BLM (BLM RecQ like helicase): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Bloom_syndrome', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | GAGGGAGTGGGAAGGGTAGGTCTAATAGGAAATCTTGGTAACAGTATATGTTACCATTAAAGGGAAGCCTGGATTCCAGGCAGATCAAAACAACAGGTAGGGCTCTTGCCTGTCCAACGCTTAACAATACACTTTGTGTTGGCACAGTGAGCTTTGCACATGAAGTTAGTTAAAAATAAAATCATAGTTAACTGATAAACCTTTGTTCCAGCCAATGACCTTGCTTACCCCAAGAAATATTATTTATTAAATATTATGAAATTAAATGAAAACAGTTATGAGCTCTTATGATAAAGCGTAGAGACAACCCAATTTCAAGT... | GAGGGAGTGGGAAGGGTAGGTCTAATAGGAAATCTTGGTAACAGTATATGTTACCATTAAAGGGAAGCCTGGATTCCAGGCAGATCAAAACAACAGGTAGGGCTCTTGCCTGTCCAACGCTTAACAATACACTTTGTGTTGGCACAGTGAGCTTTGCACATGAAGTTAGTTAAAAATAAAATCATAGTTAACTGATAAACCTTTGTTCCAGCCAATGACCTTGCTTACCCCAAGAAATATTATTTATTAAATATTATGAAATTAAATGAAAACAGTTATGAGCTCTTATGATAAAGCGTAGAGACAACCCAATTTCAAGT... | pathogenic | 239,045 |
The mutation in gene BLM (BLM RecQ like helicase) at chromosome 15, position 90760908—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['BLM-related_disorder', 'Bloom_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | GAGGGAGTGGGAAGGGTAGGTCTAATAGGAAATCTTGGTAACAGTATATGTTACCATTAAAGGGAAGCCTGGATTCCAGGCAGATCAAAACAACAGGTAGGGCTCTTGCCTGTCCAACGCTTAACAATACACTTTGTGTTGGCACAGTGAGCTTTGCACATGAAGTTAGTTAAAAATAAAATCATAGTTAACTGATAAACCTTTGTTCCAGCCAATGACCTTGCTTACCCCAAGAAATATTATTTATTAAATATTATGAAATTAAATGAAAACAGTTATGAGCTCTTATGATAAAGCGTAGAGACAACCCAATTTCAAGT... | GAGGGAGTGGGAAGGGTAGGTCTAATAGGAAATCTTGGTAACAGTATATGTTACCATTAAAGGGAAGCCTGGATTCCAGGCAGATCAAAACAACAGGTAGGGCTCTTGCCTGTCCAACGCTTAACAATACACTTTGTGTTGGCACAGTGAGCTTTGCACATGAAGTTAGTTAAAAATAAAATCATAGTTAACTGATAAACCTTTGTTCCAGCCAATGACCTTGCTTACCCCAAGAAATATTATTTATTAAATATTATGAAATTAAATGAAAACAGTTATGAGCTCTTATGATAAAGCGTAGAGACAACCCAATTTCAAGT... | pathogenic | 239,046 |
Mutation at chromosome 15, position 90760917, within BLM (BLM RecQ like helicase): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Bloom_syndrome'] | GGAAGGGTAGGTCTAATAGGAAATCTTGGTAACAGTATATGTTACCATTAAAGGGAAGCCTGGATTCCAGGCAGATCAAAACAACAGGTAGGGCTCTTGCCTGTCCAACGCTTAACAATACACTTTGTGTTGGCACAGTGAGCTTTGCACATGAAGTTAGTTAAAAATAAAATCATAGTTAACTGATAAACCTTTGTTCCAGCCAATGACCTTGCTTACCCCAAGAAATATTATTTATTAAATATTATGAAATTAAATGAAAACAGTTATGAGCTCTTATGATAAAGCGTAGAGACAACCCAATTTCAAGTTAATTCACA... | GGAAGGGTAGGTCTAATAGGAAATCTTGGTAACAGTATATGTTACCATTAAAGGGAAGCCTGGATTCCAGGCAGATCAAAACAACAGGTAGGGCTCTTGCCTGTCCAACGCTTAACAATACACTTTGTGTTGGCACAGTGAGCTTTGCACATGAAGTTAGTTAAAAATAAAATCATAGTTAACTGATAAACCTTTGTTCCAGCCAATGACCTTGCTTACCCCAAGAAATATTATTTATTAAATATTATGAAATTAAATGAAAACAGTTATGAGCTCTTATGATAAAGCGTAGAGACAACCCAATTTCAAGTTAATTCACA... | pathogenic | 239,049 |
Is the variant located on chromosome 15 at position 90760919, gene BLM (BLM RecQ like helicase), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Bloom_syndrome'] | AAGGGTAGGTCTAATAGGAAATCTTGGTAACAGTATATGTTACCATTAAAGGGAAGCCTGGATTCCAGGCAGATCAAAACAACAGGTAGGGCTCTTGCCTGTCCAACGCTTAACAATACACTTTGTGTTGGCACAGTGAGCTTTGCACATGAAGTTAGTTAAAAATAAAATCATAGTTAACTGATAAACCTTTGTTCCAGCCAATGACCTTGCTTACCCCAAGAAATATTATTTATTAAATATTATGAAATTAAATGAAAACAGTTATGAGCTCTTATGATAAAGCGTAGAGACAACCCAATTTCAAGTTAATTCACAGG... | AAGGGTAGGTCTAATAGGAAATCTTGGTAACAGTATATGTTACCATTAAAGGGAAGCCTGGATTCCAGGCAGATCAAAACAACAGGTAGGGCTCTTGCCTGTCCAACGCTTAACAATACACTTTGTGTTGGCACAGTGAGCTTTGCACATGAAGTTAGTTAAAAATAAAATCATAGTTAACTGATAAACCTTTGTTCCAGCCAATGACCTTGCTTACCCCAAGAAATATTATTTATTAAATATTATGAAATTAAATGAAAACAGTTATGAGCTCTTATGATAAAGCGTAGAGACAACCCAATTTCAAGTTAATTCACAGG... | pathogenic | 239,050 |
Variant at chromosome position 90760992, chromosome 15, gene BLM (BLM RecQ like helicase): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Bloom_syndrome'] | TCAAAACAACAGGTAGGGCTCTTGCCTGTCCAACGCTTAACAATACACTTTGTGTTGGCACAGTGAGCTTTGCACATGAAGTTAGTTAAAAATAAAATCATAGTTAACTGATAAACCTTTGTTCCAGCCAATGACCTTGCTTACCCCAAGAAATATTATTTATTAAATATTATGAAATTAAATGAAAACAGTTATGAGCTCTTATGATAAAGCGTAGAGACAACCCAATTTCAAGTTAATTCACAGGAAGATAATAGGACAATATATGGTTGTTTATGATCTTGTTTTTACACTGCTTCATATTTTACATATGTGACTTT... | TCAAAACAACAGGTAGGGCTCTTGCCTGTCCAACGCTTAACAATACACTTTGTGTTGGCACAGTGAGCTTTGCACATGAAGTTAGTTAAAAATAAAATCATAGTTAACTGATAAACCTTTGTTCCAGCCAATGACCTTGCTTACCCCAAGAAATATTATTTATTAAATATTATGAAATTAAATGAAAACAGTTATGAGCTCTTATGATAAAGCGTAGAGACAACCCAATTTCAAGTTAATTCACAGGAAGATAATAGGACAATATATGGTTGTTTATGATCTTGTTTTTACACTGCTTCATATTTTACATATGTGACTTT... | pathogenic | 239,059 |
Classify the chromosome 15 variant at position 90760996 affecting gene BLM (BLM RecQ like helicase) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['BLM-related_disorder', 'Bloom_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | AACAACAGGTAGGGCTCTTGCCTGTCCAACGCTTAACAATACACTTTGTGTTGGCACAGTGAGCTTTGCACATGAAGTTAGTTAAAAATAAAATCATAGTTAACTGATAAACCTTTGTTCCAGCCAATGACCTTGCTTACCCCAAGAAATATTATTTATTAAATATTATGAAATTAAATGAAAACAGTTATGAGCTCTTATGATAAAGCGTAGAGACAACCCAATTTCAAGTTAATTCACAGGAAGATAATAGGACAATATATGGTTGTTTATGATCTTGTTTTTACACTGCTTCATATTTTACATATGTGACTTTCAAA... | AACAACAGGTAGGGCTCTTGCCTGTCCAACGCTTAACAATACACTTTGTGTTGGCACAGTGAGCTTTGCACATGAAGTTAGTTAAAAATAAAATCATAGTTAACTGATAAACCTTTGTTCCAGCCAATGACCTTGCTTACCCCAAGAAATATTATTTATTAAATATTATGAAATTAAATGAAAACAGTTATGAGCTCTTATGATAAAGCGTAGAGACAACCCAATTTCAAGTTAATTCACAGGAAGATAATAGGACAATATATGGTTGTTTATGATCTTGTTTTTACACTGCTTCATATTTTACATATGTGACTTTCAAA... | pathogenic | 239,060 |
Is the variant located on chromosome 15 at position 90761001, gene BLM (BLM RecQ like helicase), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Bloom_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | CAGGTAGGGCTCTTGCCTGTCCAACGCTTAACAATACACTTTGTGTTGGCACAGTGAGCTTTGCACATGAAGTTAGTTAAAAATAAAATCATAGTTAACTGATAAACCTTTGTTCCAGCCAATGACCTTGCTTACCCCAAGAAATATTATTTATTAAATATTATGAAATTAAATGAAAACAGTTATGAGCTCTTATGATAAAGCGTAGAGACAACCCAATTTCAAGTTAATTCACAGGAAGATAATAGGACAATATATGGTTGTTTATGATCTTGTTTTTACACTGCTTCATATTTTACATATGTGACTTTCAAAATCTT... | CAGGTAGGGCTCTTGCCTGTCCAACGCTTAACAATACACTTTGTGTTGGCACAGTGAGCTTTGCACATGAAGTTAGTTAAAAATAAAATCATAGTTAACTGATAAACCTTTGTTCCAGCCAATGACCTTGCTTACCCCAAGAAATATTATTTATTAAATATTATGAAATTAAATGAAAACAGTTATGAGCTCTTATGATAAAGCGTAGAGACAACCCAATTTCAAGTTAATTCACAGGAAGATAATAGGACAATATATGGTTGTTTATGATCTTGTTTTTACACTGCTTCATATTTTACATATGTGACTTTCAAAATCTT... | pathogenic | 239,061 |
Evaluate the clinical significance of the mutation at chromosome 15, position 90761089 in gene BLM (BLM RecQ like helicase): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Bloom_syndrome'] | TCATAGTTAACTGATAAACCTTTGTTCCAGCCAATGACCTTGCTTACCCCAAGAAATATTATTTATTAAATATTATGAAATTAAATGAAAACAGTTATGAGCTCTTATGATAAAGCGTAGAGACAACCCAATTTCAAGTTAATTCACAGGAAGATAATAGGACAATATATGGTTGTTTATGATCTTGTTTTTACACTGCTTCATATTTTACATATGTGACTTTCAAAATCTTAAGACTTGACTGGGCACAGTGGCTCACACCTGTAATCCTAGCACTTTAGGAGGCCAAGGCGGGAGGATCACTTGAGCCCAGGAGTTTG... | TCATAGTTAACTGATAAACCTTTGTTCCAGCCAATGACCTTGCTTACCCCAAGAAATATTATTTATTAAATATTATGAAATTAAATGAAAACAGTTATGAGCTCTTATGATAAAGCGTAGAGACAACCCAATTTCAAGTTAATTCACAGGAAGATAATAGGACAATATATGGTTGTTTATGATCTTGTTTTTACACTGCTTCATATTTTACATATGTGACTTTCAAAATCTTAAGACTTGACTGGGCACAGTGGCTCACACCTGTAATCCTAGCACTTTAGGAGGCCAAGGCGGGAGGATCACTTGAGCCCAGGAGTTTG... | pathogenic | 239,070 |
Variant in BLM (BLM RecQ like helicase), chromosome 15, position 90761111—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Bloom_syndrome'] | TGTTCCAGCCAATGACCTTGCTTACCCCAAGAAATATTATTTATTAAATATTATGAAATTAAATGAAAACAGTTATGAGCTCTTATGATAAAGCGTAGAGACAACCCAATTTCAAGTTAATTCACAGGAAGATAATAGGACAATATATGGTTGTTTATGATCTTGTTTTTACACTGCTTCATATTTTACATATGTGACTTTCAAAATCTTAAGACTTGACTGGGCACAGTGGCTCACACCTGTAATCCTAGCACTTTAGGAGGCCAAGGCGGGAGGATCACTTGAGCCCAGGAGTTTGAGACCAGCCTGGGCAACATGGC... | TGTTCCAGCCAATGACCTTGCTTACCCCAAGAAATATTATTTATTAAATATTATGAAATTAAATGAAAACAGTTATGAGCTCTTATGATAAAGCGTAGAGACAACCCAATTTCAAGTTAATTCACAGGAAGATAATAGGACAATATATGGTTGTTTATGATCTTGTTTTTACACTGCTTCATATTTTACATATGTGACTTTCAAAATCTTAAGACTTGACTGGGCACAGTGGCTCACACCTGTAATCCTAGCACTTTAGGAGGCCAAGGCGGGAGGATCACTTGAGCCCAGGAGTTTGAGACCAGCCTGGGCAACATGGC... | pathogenic | 239,073 |
Is chromosome 15, position 90761124, gene BLM (BLM RecQ like helicase) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Bloom_syndrome'] | GACCTTGCTTACCCCAAGAAATATTATTTATTAAATATTATGAAATTAAATGAAAACAGTTATGAGCTCTTATGATAAAGCGTAGAGACAACCCAATTTCAAGTTAATTCACAGGAAGATAATAGGACAATATATGGTTGTTTATGATCTTGTTTTTACACTGCTTCATATTTTACATATGTGACTTTCAAAATCTTAAGACTTGACTGGGCACAGTGGCTCACACCTGTAATCCTAGCACTTTAGGAGGCCAAGGCGGGAGGATCACTTGAGCCCAGGAGTTTGAGACCAGCCTGGGCAACATGGCAAGACCCTGTCTC... | GACCTTGCTTACCCCAAGAAATATTATTTATTAAATATTATGAAATTAAATGAAAACAGTTATGAGCTCTTATGATAAAGCGTAGAGACAACCCAATTTCAAGTTAATTCACAGGAAGATAATAGGACAATATATGGTTGTTTATGATCTTGTTTTTACACTGCTTCATATTTTACATATGTGACTTTCAAAATCTTAAGACTTGACTGGGCACAGTGGCTCACACCTGTAATCCTAGCACTTTAGGAGGCCAAGGCGGGAGGATCACTTGAGCCCAGGAGTTTGAGACCAGCCTGGGCAACATGGCAAGACCCTGTCTC... | pathogenic | 239,075 |
Gene BLM (BLM RecQ like helicase) variant at chromosome 15, position 90761133—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Bloom_syndrome'] | TACCCCAAGAAATATTATTTATTAAATATTATGAAATTAAATGAAAACAGTTATGAGCTCTTATGATAAAGCGTAGAGACAACCCAATTTCAAGTTAATTCACAGGAAGATAATAGGACAATATATGGTTGTTTATGATCTTGTTTTTACACTGCTTCATATTTTACATATGTGACTTTCAAAATCTTAAGACTTGACTGGGCACAGTGGCTCACACCTGTAATCCTAGCACTTTAGGAGGCCAAGGCGGGAGGATCACTTGAGCCCAGGAGTTTGAGACCAGCCTGGGCAACATGGCAAGACCCTGTCTCTACAAAAAA... | TACCCCAAGAAATATTATTTATTAAATATTATGAAATTAAATGAAAACAGTTATGAGCTCTTATGATAAAGCGTAGAGACAACCCAATTTCAAGTTAATTCACAGGAAGATAATAGGACAATATATGGTTGTTTATGATCTTGTTTTTACACTGCTTCATATTTTACATATGTGACTTTCAAAATCTTAAGACTTGACTGGGCACAGTGGCTCACACCTGTAATCCTAGCACTTTAGGAGGCCAAGGCGGGAGGATCACTTGAGCCCAGGAGTTTGAGACCAGCCTGGGCAACATGGCAAGACCCTGTCTCTACAAAAAA... | pathogenic | 239,076 |
Is the genetic variant on chromosome 15, position 90761134, gene BLM (BLM RecQ like helicase), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Bloom_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | ACCCCAAGAAATATTATTTATTAAATATTATGAAATTAAATGAAAACAGTTATGAGCTCTTATGATAAAGCGTAGAGACAACCCAATTTCAAGTTAATTCACAGGAAGATAATAGGACAATATATGGTTGTTTATGATCTTGTTTTTACACTGCTTCATATTTTACATATGTGACTTTCAAAATCTTAAGACTTGACTGGGCACAGTGGCTCACACCTGTAATCCTAGCACTTTAGGAGGCCAAGGCGGGAGGATCACTTGAGCCCAGGAGTTTGAGACCAGCCTGGGCAACATGGCAAGACCCTGTCTCTACAAAAAAT... | ACCCCAAGAAATATTATTTATTAAATATTATGAAATTAAATGAAAACAGTTATGAGCTCTTATGATAAAGCGTAGAGACAACCCAATTTCAAGTTAATTCACAGGAAGATAATAGGACAATATATGGTTGTTTATGATCTTGTTTTTACACTGCTTCATATTTTACATATGTGACTTTCAAAATCTTAAGACTTGACTGGGCACAGTGGCTCACACCTGTAATCCTAGCACTTTAGGAGGCCAAGGCGGGAGGATCACTTGAGCCCAGGAGTTTGAGACCAGCCTGGGCAACATGGCAAGACCCTGTCTCTACAAAAAAT... | pathogenic | 239,077 |
Determine whether the variant at chromosome 15, position 90761188, in gene BLM (BLM RecQ like helicase) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Bloom_syndrome'] | AGCTCTTATGATAAAGCGTAGAGACAACCCAATTTCAAGTTAATTCACAGGAAGATAATAGGACAATATATGGTTGTTTATGATCTTGTTTTTACACTGCTTCATATTTTACATATGTGACTTTCAAAATCTTAAGACTTGACTGGGCACAGTGGCTCACACCTGTAATCCTAGCACTTTAGGAGGCCAAGGCGGGAGGATCACTTGAGCCCAGGAGTTTGAGACCAGCCTGGGCAACATGGCAAGACCCTGTCTCTACAAAAAATAATTAATTAAAAAAAAAAAAAAGAAGAAGATGTGTTGTGTTGCTGGGCACAGTG... | AGCTCTTATGATAAAGCGTAGAGACAACCCAATTTCAAGTTAATTCACAGGAAGATAATAGGACAATATATGGTTGTTTATGATCTTGTTTTTACACTGCTTCATATTTTACATATGTGACTTTCAAAATCTTAAGACTTGACTGGGCACAGTGGCTCACACCTGTAATCCTAGCACTTTAGGAGGCCAAGGCGGGAGGATCACTTGAGCCCAGGAGTTTGAGACCAGCCTGGGCAACATGGCAAGACCCTGTCTCTACAAAAAATAATTAATTAAAAAAAAAAAAAAGAAGAAGATGTGTTGTGTTGCTGGGCACAGTG... | pathogenic | 239,086 |
A mutation at chromosome position 90763003 on chromosome 15 in gene BLM (BLM RecQ like helicase): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Bloom_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | ACTGCTGTGAAAGATCAGAATAAACATACTGCTTCAATAAATGACTTAGAAAGAGAAACCCAACCTTCCTATGATATTGATAATTTTGACATAGATGACTTTGATGATGATGATGACTGGGAAGACATAATGCATAATTTAGCAGCCAGCAAATCTTCCACAGCTGCCTATCAACCCATCAAGGAAGGTCGGCCAATTAAATCAGTATCAGAAAGACTTTCCTCAGCCAAGACAGACTGTCTTCCAGTGTCATCTACTGCTCAAAATATAAACTTCTCAGAGTCAATTCAGAATTATACTGGTAAGTTTAAAATAAATTG... | ACTGCTGTGAAAGATCAGAATAAACATACTGCTTCAATAAATGACTTAGAAAGAGAAACCCAACCTTCCTATGATATTGATAATTTTGACATAGATGACTTTGATGATGATGATGACTGGGAAGACATAATGCATAATTTAGCAGCCAGCAAATCTTCCACAGCTGCCTATCAACCCATCAAGGAAGGTCGGCCAATTAAATCAGTATCAGAAAGACTTTCCTCAGCCAAGACAGACTGTCTTCCAGTGTCATCTACTGCTCAAAATATAAACTTCTCAGAGTCAATTCAGAATTATACTGGTAAGTTTAAAATAAATTG... | pathogenic | 239,105 |
Variant at chromosome position 90763050, chromosome 15, gene BLM (BLM RecQ like helicase): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Bloom_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | AGAAAGAGAAACCCAACCTTCCTATGATATTGATAATTTTGACATAGATGACTTTGATGATGATGATGACTGGGAAGACATAATGCATAATTTAGCAGCCAGCAAATCTTCCACAGCTGCCTATCAACCCATCAAGGAAGGTCGGCCAATTAAATCAGTATCAGAAAGACTTTCCTCAGCCAAGACAGACTGTCTTCCAGTGTCATCTACTGCTCAAAATATAAACTTCTCAGAGTCAATTCAGAATTATACTGGTAAGTTTAAAATAAATTGAATGCTTATATGAAAACAAAACTGTCCCAAAATAGGAATTATATAAG... | AGAAAGAGAAACCCAACCTTCCTATGATATTGATAATTTTGACATAGATGACTTTGATGATGATGATGACTGGGAAGACATAATGCATAATTTAGCAGCCAGCAAATCTTCCACAGCTGCCTATCAACCCATCAAGGAAGGTCGGCCAATTAAATCAGTATCAGAAAGACTTTCCTCAGCCAAGACAGACTGTCTTCCAGTGTCATCTACTGCTCAAAATATAAACTTCTCAGAGTCAATTCAGAATTATACTGGTAAGTTTAAAATAAATTGAATGCTTATATGAAAACAAAACTGTCCCAAAATAGGAATTATATAAG... | pathogenic | 239,112 |
Does the chromosome 15 mutation at position 90763063 within gene BLM (BLM RecQ like helicase) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Bloom_syndrome'] | CAACCTTCCTATGATATTGATAATTTTGACATAGATGACTTTGATGATGATGATGACTGGGAAGACATAATGCATAATTTAGCAGCCAGCAAATCTTCCACAGCTGCCTATCAACCCATCAAGGAAGGTCGGCCAATTAAATCAGTATCAGAAAGACTTTCCTCAGCCAAGACAGACTGTCTTCCAGTGTCATCTACTGCTCAAAATATAAACTTCTCAGAGTCAATTCAGAATTATACTGGTAAGTTTAAAATAAATTGAATGCTTATATGAAAACAAAACTGTCCCAAAATAGGAATTATATAAGAAAAACCATAGCA... | CAACCTTCCTATGATATTGATAATTTTGACATAGATGACTTTGATGATGATGATGACTGGGAAGACATAATGCATAATTTAGCAGCCAGCAAATCTTCCACAGCTGCCTATCAACCCATCAAGGAAGGTCGGCCAATTAAATCAGTATCAGAAAGACTTTCCTCAGCCAAGACAGACTGTCTTCCAGTGTCATCTACTGCTCAAAATATAAACTTCTCAGAGTCAATTCAGAATTATACTGGTAAGTTTAAAATAAATTGAATGCTTATATGAAAACAAAACTGTCCCAAAATAGGAATTATATAAGAAAAACCATAGCA... | pathogenic | 239,114 |
A mutation at chromosome position 90765304 on chromosome 15 in gene BLM (BLM RecQ like helicase): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Bloom_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TCATTTAGGGACCTCTTAAACCTCCTGTACCATAGTGAGAAAGCATATTACTTTATATCCTTTGTTCTGGTTGTTGACATCATGAAGTTTATAGCCCTGTAAGATTTTCAACTCGAAGCTCATTGTGTTGAACTGATCTAGAATTTTTCTTTGGGAATTTTTCTTTTTTCTAGTCTAAGCAGTTTTGGAAATCAAACAGAAAAATCGCTGTCAGAGACCATGACCATTTCTGGCAGTTTATTTGCAACAATCTGGTGTTGCATAGTGGTTAAATCATATATGCATATATGCATAGTGGTCCATCAGCTATGGACCAAAGG... | TCATTTAGGGACCTCTTAAACCTCCTGTACCATAGTGAGAAAGCATATTACTTTATATCCTTTGTTCTGGTTGTTGACATCATGAAGTTTATAGCCCTGTAAGATTTTCAACTCGAAGCTCATTGTGTTGAACTGATCTAGAATTTTTCTTTGGGAATTTTTCTTTTTTCTAGTCTAAGCAGTTTTGGAAATCAAACAGAAAAATCGCTGTCAGAGACCATGACCATTTCTGGCAGTTTATTTGCAACAATCTGGTGTTGCATAGTGGTTAAATCATATATGCATATATGCATAGTGGTCCATCAGCTATGGACCAAAGG... | pathogenic | 239,134 |
The chromosome 15, position 90765328 genetic variant in gene BLM (BLM RecQ like helicase): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Bloom_syndrome'] | CTGTACCATAGTGAGAAAGCATATTACTTTATATCCTTTGTTCTGGTTGTTGACATCATGAAGTTTATAGCCCTGTAAGATTTTCAACTCGAAGCTCATTGTGTTGAACTGATCTAGAATTTTTCTTTGGGAATTTTTCTTTTTTCTAGTCTAAGCAGTTTTGGAAATCAAACAGAAAAATCGCTGTCAGAGACCATGACCATTTCTGGCAGTTTATTTGCAACAATCTGGTGTTGCATAGTGGTTAAATCATATATGCATATATGCATAGTGGTCCATCAGCTATGGACCAAAGGCCTGGACTTAAAGAACAGCTCTGC... | CTGTACCATAGTGAGAAAGCATATTACTTTATATCCTTTGTTCTGGTTGTTGACATCATGAAGTTTATAGCCCTGTAAGATTTTCAACTCGAAGCTCATTGTGTTGAACTGATCTAGAATTTTTCTTTGGGAATTTTTCTTTTTTCTAGTCTAAGCAGTTTTGGAAATCAAACAGAAAAATCGCTGTCAGAGACCATGACCATTTCTGGCAGTTTATTTGCAACAATCTGGTGTTGCATAGTGGTTAAATCATATATGCATATATGCATAGTGGTCCATCAGCTATGGACCAAAGGCCTGGACTTAAAGAACAGCTCTGC... | pathogenic | 239,138 |
Evaluate if the mutation on chromosome 15 at position 90765406 in BLM (BLM RecQ like helicase) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Bloom_syndrome'] | GATTTTCAACTCGAAGCTCATTGTGTTGAACTGATCTAGAATTTTTCTTTGGGAATTTTTCTTTTTTCTAGTCTAAGCAGTTTTGGAAATCAAACAGAAAAATCGCTGTCAGAGACCATGACCATTTCTGGCAGTTTATTTGCAACAATCTGGTGTTGCATAGTGGTTAAATCATATATGCATATATGCATAGTGGTCCATCAGCTATGGACCAAAGGCCTGGACTTAAAGAACAGCTCTGCTGCTCACAGCAGTGTGGCCACATGCAAGGCACTTTACTCCCTGGGCCCATTTTCTCATGTGTGCAATGGTGATAGCAG... | GATTTTCAACTCGAAGCTCATTGTGTTGAACTGATCTAGAATTTTTCTTTGGGAATTTTTCTTTTTTCTAGTCTAAGCAGTTTTGGAAATCAAACAGAAAAATCGCTGTCAGAGACCATGACCATTTCTGGCAGTTTATTTGCAACAATCTGGTGTTGCATAGTGGTTAAATCATATATGCATATATGCATAGTGGTCCATCAGCTATGGACCAAAGGCCTGGACTTAAAGAACAGCTCTGCTGCTCACAGCAGTGTGGCCACATGCAAGGCACTTTACTCCCTGGGCCCATTTTCTCATGTGTGCAATGGTGATAGCAG... | pathogenic | 239,144 |
Determine if the mutation at chromosome 15, position 90765412 in gene BLM (BLM RecQ like helicase) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Bloom_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | CAACTCGAAGCTCATTGTGTTGAACTGATCTAGAATTTTTCTTTGGGAATTTTTCTTTTTTCTAGTCTAAGCAGTTTTGGAAATCAAACAGAAAAATCGCTGTCAGAGACCATGACCATTTCTGGCAGTTTATTTGCAACAATCTGGTGTTGCATAGTGGTTAAATCATATATGCATATATGCATAGTGGTCCATCAGCTATGGACCAAAGGCCTGGACTTAAAGAACAGCTCTGCTGCTCACAGCAGTGTGGCCACATGCAAGGCACTTTACTCCCTGGGCCCATTTTCTCATGTGTGCAATGGTGATAGCAGTAAAGT... | CAACTCGAAGCTCATTGTGTTGAACTGATCTAGAATTTTTCTTTGGGAATTTTTCTTTTTTCTAGTCTAAGCAGTTTTGGAAATCAAACAGAAAAATCGCTGTCAGAGACCATGACCATTTCTGGCAGTTTATTTGCAACAATCTGGTGTTGCATAGTGGTTAAATCATATATGCATATATGCATAGTGGTCCATCAGCTATGGACCAAAGGCCTGGACTTAAAGAACAGCTCTGCTGCTCACAGCAGTGTGGCCACATGCAAGGCACTTTACTCCCTGGGCCCATTTTCTCATGTGTGCAATGGTGATAGCAGTAAAGT... | pathogenic | 239,145 |
Clinical classification of chromosome 15, position 90766921, gene BLM (BLM RecQ like helicase): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Bloom_syndrome'] | GGAGTTCAAGACCAGCCTGGCCAATGTCTCTACTAAAAATACAAAAATTAGCAGGATGTGGTGGTGCATGCCTATAGTCCTAGCTACTGGGGAGGGTAAGGCATGACAATTGCTTGAACCTGGGAGGTGGAGATTGTAGTGAGCTCAGATGGCACCACTGCACTCCAGCCTGGGCAACAGAATGAGACTCTGTCTCAAAGACAAAAACAAAAACAAAAAAAACACTTTTTTTTTAAAGATCATTTTTACACATTATTTAAATTGCCTAAATATAATAGTTTGAGTCATTTGAGTATGGCAAATTGTTGGCACCAGGGACA... | GGAGTTCAAGACCAGCCTGGCCAATGTCTCTACTAAAAATACAAAAATTAGCAGGATGTGGTGGTGCATGCCTATAGTCCTAGCTACTGGGGAGGGTAAGGCATGACAATTGCTTGAACCTGGGAGGTGGAGATTGTAGTGAGCTCAGATGGCACCACTGCACTCCAGCCTGGGCAACAGAATGAGACTCTGTCTCAAAGACAAAAACAAAAACAAAAAAAACACTTTTTTTTTAAAGATCATTTTTACACATTATTTAAATTGCCTAAATATAATAGTTTGAGTCATTTGAGTATGGCAAATTGTTGGCACCAGGGACA... | pathogenic | 239,152 |
Assess the variant on chromosome 15, position 90766923, impacting BLM (BLM RecQ like helicase): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['BLM-related_disorder', 'Bloom_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | AGTTCAAGACCAGCCTGGCCAATGTCTCTACTAAAAATACAAAAATTAGCAGGATGTGGTGGTGCATGCCTATAGTCCTAGCTACTGGGGAGGGTAAGGCATGACAATTGCTTGAACCTGGGAGGTGGAGATTGTAGTGAGCTCAGATGGCACCACTGCACTCCAGCCTGGGCAACAGAATGAGACTCTGTCTCAAAGACAAAAACAAAAACAAAAAAAACACTTTTTTTTTAAAGATCATTTTTACACATTATTTAAATTGCCTAAATATAATAGTTTGAGTCATTTGAGTATGGCAAATTGTTGGCACCAGGGACAAT... | AGTTCAAGACCAGCCTGGCCAATGTCTCTACTAAAAATACAAAAATTAGCAGGATGTGGTGGTGCATGCCTATAGTCCTAGCTACTGGGGAGGGTAAGGCATGACAATTGCTTGAACCTGGGAGGTGGAGATTGTAGTGAGCTCAGATGGCACCACTGCACTCCAGCCTGGGCAACAGAATGAGACTCTGTCTCAAAGACAAAAACAAAAACAAAAAAAACACTTTTTTTTTAAAGATCATTTTTACACATTATTTAAATTGCCTAAATATAATAGTTTGAGTCATTTGAGTATGGCAAATTGTTGGCACCAGGGACAAT... | pathogenic | 239,154 |
Is chromosome 15, position 90766966, gene BLM (BLM RecQ like helicase) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Bloom_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | AATTAGCAGGATGTGGTGGTGCATGCCTATAGTCCTAGCTACTGGGGAGGGTAAGGCATGACAATTGCTTGAACCTGGGAGGTGGAGATTGTAGTGAGCTCAGATGGCACCACTGCACTCCAGCCTGGGCAACAGAATGAGACTCTGTCTCAAAGACAAAAACAAAAACAAAAAAAACACTTTTTTTTTAAAGATCATTTTTACACATTATTTAAATTGCCTAAATATAATAGTTTGAGTCATTTGAGTATGGCAAATTGTTGGCACCAGGGACAATATGCCTTGGTGTCCTATTAATGATATGATTTCTTTTGTAACTT... | AATTAGCAGGATGTGGTGGTGCATGCCTATAGTCCTAGCTACTGGGGAGGGTAAGGCATGACAATTGCTTGAACCTGGGAGGTGGAGATTGTAGTGAGCTCAGATGGCACCACTGCACTCCAGCCTGGGCAACAGAATGAGACTCTGTCTCAAAGACAAAAACAAAAACAAAAAAAACACTTTTTTTTTAAAGATCATTTTTACACATTATTTAAATTGCCTAAATATAATAGTTTGAGTCATTTGAGTATGGCAAATTGTTGGCACCAGGGACAATATGCCTTGGTGTCCTATTAATGATATGATTTCTTTTGTAACTT... | pathogenic | 239,161 |
Variant on chromosome 15, at position 90766977, affecting BLM (BLM RecQ like helicase): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Bloom_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TGTGGTGGTGCATGCCTATAGTCCTAGCTACTGGGGAGGGTAAGGCATGACAATTGCTTGAACCTGGGAGGTGGAGATTGTAGTGAGCTCAGATGGCACCACTGCACTCCAGCCTGGGCAACAGAATGAGACTCTGTCTCAAAGACAAAAACAAAAACAAAAAAAACACTTTTTTTTTAAAGATCATTTTTACACATTATTTAAATTGCCTAAATATAATAGTTTGAGTCATTTGAGTATGGCAAATTGTTGGCACCAGGGACAATATGCCTTGGTGTCCTATTAATGATATGATTTCTTTTGTAACTTTTACATTCATG... | TGTGGTGGTGCATGCCTATAGTCCTAGCTACTGGGGAGGGTAAGGCATGACAATTGCTTGAACCTGGGAGGTGGAGATTGTAGTGAGCTCAGATGGCACCACTGCACTCCAGCCTGGGCAACAGAATGAGACTCTGTCTCAAAGACAAAAACAAAAACAAAAAAAACACTTTTTTTTTAAAGATCATTTTTACACATTATTTAAATTGCCTAAATATAATAGTTTGAGTCATTTGAGTATGGCAAATTGTTGGCACCAGGGACAATATGCCTTGGTGTCCTATTAATGATATGATTTCTTTTGTAACTTTTACATTCATG... | pathogenic | 239,165 |
Classify the chromosome 15 variant at position 90767003 affecting gene BLM (BLM RecQ like helicase) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Bloom_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | GCTACTGGGGAGGGTAAGGCATGACAATTGCTTGAACCTGGGAGGTGGAGATTGTAGTGAGCTCAGATGGCACCACTGCACTCCAGCCTGGGCAACAGAATGAGACTCTGTCTCAAAGACAAAAACAAAAACAAAAAAAACACTTTTTTTTTAAAGATCATTTTTACACATTATTTAAATTGCCTAAATATAATAGTTTGAGTCATTTGAGTATGGCAAATTGTTGGCACCAGGGACAATATGCCTTGGTGTCCTATTAATGATATGATTTCTTTTGTAACTTTTACATTCATGCTCTGAAGACAGAACCTGACAGATAT... | GCTACTGGGGAGGGTAAGGCATGACAATTGCTTGAACCTGGGAGGTGGAGATTGTAGTGAGCTCAGATGGCACCACTGCACTCCAGCCTGGGCAACAGAATGAGACTCTGTCTCAAAGACAAAAACAAAAACAAAAAAAACACTTTTTTTTTAAAGATCATTTTTACACATTATTTAAATTGCCTAAATATAATAGTTTGAGTCATTTGAGTATGGCAAATTGTTGGCACCAGGGACAATATGCCTTGGTGTCCTATTAATGATATGATTTCTTTTGTAACTTTTACATTCATGCTCTGAAGACAGAACCTGACAGATAT... | pathogenic | 239,168 |
Is the genetic variant on chromosome 15, position 90769165, gene BLM (BLM RecQ like helicase), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Bloom_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | AAGAATTTTTGTACAACTTTCATCCAGAAACCCCAAATGGTAACATTTTACTATAATTGCTTTGTATTCTCTCTCTGCATATATTTTCCTGACACATTTGATTGAAAATTGCAGACATGGTATCCTTTTAAGCCCTAAGTACTTCACTGTACATTTCCTAAAAACAACGTATTCTCTCATATAACCTCAGTACAATGATCAAAATTAGGAGATGTACATTGATGCAGTACTATTACTTAATCTGTAAACCTTATTCTGGTTTCACTAGTTGTCCCAATAATGTCCTTTATAGCAAAAGAAAATCCCAGATCATGCATGCA... | AAGAATTTTTGTACAACTTTCATCCAGAAACCCCAAATGGTAACATTTTACTATAATTGCTTTGTATTCTCTCTCTGCATATATTTTCCTGACACATTTGATTGAAAATTGCAGACATGGTATCCTTTTAAGCCCTAAGTACTTCACTGTACATTTCCTAAAAACAACGTATTCTCTCATATAACCTCAGTACAATGATCAAAATTAGGAGATGTACATTGATGCAGTACTATTACTTAATCTGTAAACCTTATTCTGGTTTCACTAGTTGTCCCAATAATGTCCTTTATAGCAAAAGAAAATCCCAGATCATGCATGCA... | pathogenic | 239,177 |
Regarding the variant at chromosome 15 and position 90769170, affecting gene BLM (BLM RecQ like helicase): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Bloom_syndrome'] | TTTTTGTACAACTTTCATCCAGAAACCCCAAATGGTAACATTTTACTATAATTGCTTTGTATTCTCTCTCTGCATATATTTTCCTGACACATTTGATTGAAAATTGCAGACATGGTATCCTTTTAAGCCCTAAGTACTTCACTGTACATTTCCTAAAAACAACGTATTCTCTCATATAACCTCAGTACAATGATCAAAATTAGGAGATGTACATTGATGCAGTACTATTACTTAATCTGTAAACCTTATTCTGGTTTCACTAGTTGTCCCAATAATGTCCTTTATAGCAAAAGAAAATCCCAGATCATGCATGCATTCCG... | TTTTTGTACAACTTTCATCCAGAAACCCCAAATGGTAACATTTTACTATAATTGCTTTGTATTCTCTCTCTGCATATATTTTCCTGACACATTTGATTGAAAATTGCAGACATGGTATCCTTTTAAGCCCTAAGTACTTCACTGTACATTTCCTAAAAACAACGTATTCTCTCATATAACCTCAGTACAATGATCAAAATTAGGAGATGTACATTGATGCAGTACTATTACTTAATCTGTAAACCTTATTCTGGTTTCACTAGTTGTCCCAATAATGTCCTTTATAGCAAAAGAAAATCCCAGATCATGCATGCATTCCG... | pathogenic | 239,178 |
Gene BLM (BLM RecQ like helicase) variant at chromosome 15, position 90769222—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Bloom_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TGCTTTGTATTCTCTCTCTGCATATATTTTCCTGACACATTTGATTGAAAATTGCAGACATGGTATCCTTTTAAGCCCTAAGTACTTCACTGTACATTTCCTAAAAACAACGTATTCTCTCATATAACCTCAGTACAATGATCAAAATTAGGAGATGTACATTGATGCAGTACTATTACTTAATCTGTAAACCTTATTCTGGTTTCACTAGTTGTCCCAATAATGTCCTTTATAGCAAAAGAAAATCCCAGATCATGCATGCATTCCGTTGTGCTTCTCTGTAATCTTGTAAACAGTTTCTCTCTCTTAATATCTTTCGT... | TGCTTTGTATTCTCTCTCTGCATATATTTTCCTGACACATTTGATTGAAAATTGCAGACATGGTATCCTTTTAAGCCCTAAGTACTTCACTGTACATTTCCTAAAAACAACGTATTCTCTCATATAACCTCAGTACAATGATCAAAATTAGGAGATGTACATTGATGCAGTACTATTACTTAATCTGTAAACCTTATTCTGGTTTCACTAGTTGTCCCAATAATGTCCTTTATAGCAAAAGAAAATCCCAGATCATGCATGCATTCCGTTGTGCTTCTCTGTAATCTTGTAAACAGTTTCTCTCTCTTAATATCTTTCGT... | pathogenic | 239,185 |
Evaluate the clinical significance of the mutation at chromosome 15, position 90769437 in gene BLM (BLM RecQ like helicase): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Bloom_syndrome'] | CCCAATAATGTCCTTTATAGCAAAAGAAAATCCCAGATCATGCATGCATTCCGTTGTGCTTCTCTGTAATCTTGTAAACAGTTTCTCTCTCTTAATATCTTTCGTGATTTTGAAGTTTTTGAAGGCCAGTCGTTTTCGGAATTGTCCCTCAATTTGAGTTTATCTTGCTTCCTCCTGCTTAGATTCCTGTTACTCCTTGAATATCACAGAAACAGTGATATGTTCTCATGCCCACTGTCAGGAGGCACTTGATGTCGATTCGTCCCATTACTGACAATGTTAGTTAACTGATCGCTTGGTTATGGTAGTGTCTGATAGAC... | CCCAATAATGTCCTTTATAGCAAAAGAAAATCCCAGATCATGCATGCATTCCGTTGTGCTTCTCTGTAATCTTGTAAACAGTTTCTCTCTCTTAATATCTTTCGTGATTTTGAAGTTTTTGAAGGCCAGTCGTTTTCGGAATTGTCCCTCAATTTGAGTTTATCTTGCTTCCTCCTGCTTAGATTCCTGTTACTCCTTGAATATCACAGAAACAGTGATATGTTCTCATGCCCACTGTCAGGAGGCACTTGATGTCGATTCGTCCCATTACTGACAATGTTAGTTAACTGATCGCTTGGTTATGGTAGTGTCTGATAGAC... | pathogenic | 239,189 |
Clinically, how would you classify the variant at chromosome 15, position 90769518, gene BLM (BLM RecQ like helicase): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Bloom_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TTTCTCTCTCTTAATATCTTTCGTGATTTTGAAGTTTTTGAAGGCCAGTCGTTTTCGGAATTGTCCCTCAATTTGAGTTTATCTTGCTTCCTCCTGCTTAGATTCCTGTTACTCCTTGAATATCACAGAAACAGTGATATGTTCTCATGCCCACTGTCAGGAGGCACTTGATGTCGATTCGTCCCATTACTGACAATGTTAGTTAACTGATCGCTTGGTTATGGTAGTGTCTGATAGACTTCTCCGCTGTAAAGTTACTCATTTCTTTTTGGCCTTTGTAATTAGTAGATATCCTGTTGTGGGATGCTTTGAGACTACGT... | TTTCTCTCTCTTAATATCTTTCGTGATTTTGAAGTTTTTGAAGGCCAGTCGTTTTCGGAATTGTCCCTCAATTTGAGTTTATCTTGCTTCCTCCTGCTTAGATTCCTGTTACTCCTTGAATATCACAGAAACAGTGATATGTTCTCATGCCCACTGTCAGGAGGCACTTGATGTCGATTCGTCCCATTACTGACAATGTTAGTTAACTGATCGCTTGGTTATGGTAGTGTCTGATAGACTTCTCCGCTGTAAAGTTACTCATTTCTTTTTGGCCTTTGTAATTAGTAGATATCCTGTTGTGGGATGCTTTGAGACTACGT... | pathogenic | 239,201 |
Clinical impact (benign or pathogenic) of the variant at chromosome 15, location 90769536, gene BLM (BLM RecQ like helicase): what disease(s) if pathogenic? | pathogenic; ['BLM-related_disorder', 'Bloom_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TTTCGTGATTTTGAAGTTTTTGAAGGCCAGTCGTTTTCGGAATTGTCCCTCAATTTGAGTTTATCTTGCTTCCTCCTGCTTAGATTCCTGTTACTCCTTGAATATCACAGAAACAGTGATATGTTCTCATGCCCACTGTCAGGAGGCACTTGATGTCGATTCGTCCCATTACTGACAATGTTAGTTAACTGATCGCTTGGTTATGGTAGTGTCTGATAGACTTCTCCGCTGTAAAGTTACTCATTTCTTTTTGGCCTTTGTAATTAGTAGATATCCTGTTGTGGGATGCTTTGAGACTACGTAAATACCCTGCTAGTGAT... | TTTCGTGATTTTGAAGTTTTTGAAGGCCAGTCGTTTTCGGAATTGTCCCTCAATTTGAGTTTATCTTGCTTCCTCCTGCTTAGATTCCTGTTACTCCTTGAATATCACAGAAACAGTGATATGTTCTCATGCCCACTGTCAGGAGGCACTTGATGTCGATTCGTCCCATTACTGACAATGTTAGTTAACTGATCGCTTGGTTATGGTAGTGTCTGATAGACTTCTCCGCTGTAAAGTTACTCATTTCTTTTTGGCCTTTGTAATTAGTAGATATCCTGTTGTGGGATGCTTTGAGACTACGTAAATACCCTGCTAGTGAT... | pathogenic | 239,206 |
Is the genetic change at chromosome 15, position 90782822, within gene BLM (BLM RecQ like helicase) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Bloom_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TGTCACATAGTTACTGACAGTACAGTGTAGCAACTATTTACATGGCATTTATTTAATACATTGTATTGAGTATTATAAGTAATCTAGAGATGGTTTAAAGTGTGCAGGAGGATGTGCATAGGTTATATACATATACTACACCATTTTATATCAGGGACTTGAGCATCCTTGGATTTAGGTATCCGAGGAGGCCCTAGAACCAATCCCCCATGGGAAACCAAGGGATGTGAAAATTGAGGGTCTGAATTTGTTTAAGATTCACAGAACAGACTGAAAAGACAAGAGAGGAGATAATGGAGAGAACAAGCTCACTGAGGAAG... | TGTCACATAGTTACTGACAGTACAGTGTAGCAACTATTTACATGGCATTTATTTAATACATTGTATTGAGTATTATAAGTAATCTAGAGATGGTTTAAAGTGTGCAGGAGGATGTGCATAGGTTATATACATATACTACACCATTTTATATCAGGGACTTGAGCATCCTTGGATTTAGGTATCCGAGGAGGCCCTAGAACCAATCCCCCATGGGAAACCAAGGGATGTGAAAATTGAGGGTCTGAATTTGTTTAAGATTCACAGAACAGACTGAAAAGACAAGAGAGGAGATAATGGAGAGAACAAGCTCACTGAGGAAG... | pathogenic | 239,216 |
A mutation at chromosome position 90782844 on chromosome 15 in gene BLM (BLM RecQ like helicase): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Bloom_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | CAGTGTAGCAACTATTTACATGGCATTTATTTAATACATTGTATTGAGTATTATAAGTAATCTAGAGATGGTTTAAAGTGTGCAGGAGGATGTGCATAGGTTATATACATATACTACACCATTTTATATCAGGGACTTGAGCATCCTTGGATTTAGGTATCCGAGGAGGCCCTAGAACCAATCCCCCATGGGAAACCAAGGGATGTGAAAATTGAGGGTCTGAATTTGTTTAAGATTCACAGAACAGACTGAAAAGACAAGAGAGGAGATAATGGAGAGAACAAGCTCACTGAGGAAGTGGGCGGGAGGAAATGGGGCAA... | CAGTGTAGCAACTATTTACATGGCATTTATTTAATACATTGTATTGAGTATTATAAGTAATCTAGAGATGGTTTAAAGTGTGCAGGAGGATGTGCATAGGTTATATACATATACTACACCATTTTATATCAGGGACTTGAGCATCCTTGGATTTAGGTATCCGAGGAGGCCCTAGAACCAATCCCCCATGGGAAACCAAGGGATGTGAAAATTGAGGGTCTGAATTTGTTTAAGATTCACAGAACAGACTGAAAAGACAAGAGAGGAGATAATGGAGAGAACAAGCTCACTGAGGAAGTGGGCGGGAGGAAATGGGGCAA... | pathogenic | 239,217 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 15, position 90785038, gene BLM (BLM RecQ like helicase). What disease(s) is it linked to if pathogenic? | pathogenic; ['Bloom_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | AGATATATAAAATTGCATATTAAACATTCCTTTTTGCATTATGACAGCACTAACTTGCTCTTTATAGAGCAGACTATTGCAACTCTCTCAATTCTGGAAATTATAAAATCTCATTTGGTTTAATAACAATAAATTCTAACAAAAATATATTAAATACTCCCTCCTACACACGTATATTATAACTTTTGGTTTCAATGTCTTTCCTCAGGCTTCTATCAGTGTTTGAATTATACAGCTTTTTGTTTTAGTGCCTTGTCCCAAGCCTGTCTGCCTTTGCATTATGTTAACTAAAATGAGATTCTGAAATTCATAGTAGTTTT... | AGATATATAAAATTGCATATTAAACATTCCTTTTTGCATTATGACAGCACTAACTTGCTCTTTATAGAGCAGACTATTGCAACTCTCTCAATTCTGGAAATTATAAAATCTCATTTGGTTTAATAACAATAAATTCTAACAAAAATATATTAAATACTCCCTCCTACACACGTATATTATAACTTTTGGTTTCAATGTCTTTCCTCAGGCTTCTATCAGTGTTTGAATTATACAGCTTTTTGTTTTAGTGCCTTGTCCCAAGCCTGTCTGCCTTTGCATTATGTTAACTAAAATGAGATTCTGAAATTCATAGTAGTTTT... | pathogenic | 239,246 |
Variant at chromosome position 90790672, chromosome 15, gene BLM (BLM RecQ like helicase): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Bloom_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | AGGCAGATCAGTGGAACAGGAAAACATGTAAAAACAATACATGATAAGGAAAAAGTTTGCATGAAAGGGCCAGGCATGGTGGTTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGAAGATCACTTGAGCCTAGGAGTTCAAGACCAGCCCAGGCAACATGGCGAAACCCCATCTCTACAAAAAATACAAAAATTAGCCTGGCATGCTGGTGCACACCTGTAGTCCCAGCTTCTCGGGAGTCTGAGGCAGGAGAATAGCTTGAACCCTGGAGGTGGAGGTTGCAGTGAGCCAAAATCACGCCACTGCATTCCA... | AGGCAGATCAGTGGAACAGGAAAACATGTAAAAACAATACATGATAAGGAAAAAGTTTGCATGAAAGGGCCAGGCATGGTGGTTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGAAGATCACTTGAGCCTAGGAGTTCAAGACCAGCCCAGGCAACATGGCGAAACCCCATCTCTACAAAAAATACAAAAATTAGCCTGGCATGCTGGTGCACACCTGTAGTCCCAGCTTCTCGGGAGTCTGAGGCAGGAGAATAGCTTGAACCCTGGAGGTGGAGGTTGCAGTGAGCCAAAATCACGCCACTGCATTCCA... | pathogenic | 239,257 |
Classify the chromosome 15 variant at position 90790746 affecting gene BLM (BLM RecQ like helicase) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['BLM-related_disorder', 'Bloom_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | CATGGTGGTTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGAAGATCACTTGAGCCTAGGAGTTCAAGACCAGCCCAGGCAACATGGCGAAACCCCATCTCTACAAAAAATACAAAAATTAGCCTGGCATGCTGGTGCACACCTGTAGTCCCAGCTTCTCGGGAGTCTGAGGCAGGAGAATAGCTTGAACCCTGGAGGTGGAGGTTGCAGTGAGCCAAAATCACGCCACTGCATTCCAGCCTGGGCAACAGACCGAGACTGTCTCAAAAAAAAAAAAAAATGATTTTTTTCAAGTGCTTTAAATGGTTATGT... | CATGGTGGTTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGAAGATCACTTGAGCCTAGGAGTTCAAGACCAGCCCAGGCAACATGGCGAAACCCCATCTCTACAAAAAATACAAAAATTAGCCTGGCATGCTGGTGCACACCTGTAGTCCCAGCTTCTCGGGAGTCTGAGGCAGGAGAATAGCTTGAACCCTGGAGGTGGAGGTTGCAGTGAGCCAAAATCACGCCACTGCATTCCAGCCTGGGCAACAGACCGAGACTGTCTCAAAAAAAAAAAAAAATGATTTTTTTCAAGTGCTTTAAATGGTTATGT... | pathogenic | 239,270 |
Evaluate the clinical significance of the mutation at chromosome 15, position 90790812 in gene BLM (BLM RecQ like helicase): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Bloom_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | GGAGTTCAAGACCAGCCCAGGCAACATGGCGAAACCCCATCTCTACAAAAAATACAAAAATTAGCCTGGCATGCTGGTGCACACCTGTAGTCCCAGCTTCTCGGGAGTCTGAGGCAGGAGAATAGCTTGAACCCTGGAGGTGGAGGTTGCAGTGAGCCAAAATCACGCCACTGCATTCCAGCCTGGGCAACAGACCGAGACTGTCTCAAAAAAAAAAAAAAATGATTTTTTTCAAGTGCTTTAAATGGTTATGTATAGTATAAATAATCTACAATGGAGATATATATATATATATATATAACTTTGATAAAAAATATGGT... | GGAGTTCAAGACCAGCCCAGGCAACATGGCGAAACCCCATCTCTACAAAAAATACAAAAATTAGCCTGGCATGCTGGTGCACACCTGTAGTCCCAGCTTCTCGGGAGTCTGAGGCAGGAGAATAGCTTGAACCCTGGAGGTGGAGGTTGCAGTGAGCCAAAATCACGCCACTGCATTCCAGCCTGGGCAACAGACCGAGACTGTCTCAAAAAAAAAAAAAAATGATTTTTTTCAAGTGCTTTAAATGGTTATGTATAGTATAAATAATCTACAATGGAGATATATATATATATATATATAACTTTGATAAAAAATATGGT... | pathogenic | 239,278 |
Is the variant located on chromosome 15 at position 90790840, gene BLM (BLM RecQ like helicase), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Bloom_syndrome'] | GCGAAACCCCATCTCTACAAAAAATACAAAAATTAGCCTGGCATGCTGGTGCACACCTGTAGTCCCAGCTTCTCGGGAGTCTGAGGCAGGAGAATAGCTTGAACCCTGGAGGTGGAGGTTGCAGTGAGCCAAAATCACGCCACTGCATTCCAGCCTGGGCAACAGACCGAGACTGTCTCAAAAAAAAAAAAAAATGATTTTTTTCAAGTGCTTTAAATGGTTATGTATAGTATAAATAATCTACAATGGAGATATATATATATATATATATAACTTTGATAAAAAATATGGTTAAACAATAGGGGTTTATAAAAACCTAA... | GCGAAACCCCATCTCTACAAAAAATACAAAAATTAGCCTGGCATGCTGGTGCACACCTGTAGTCCCAGCTTCTCGGGAGTCTGAGGCAGGAGAATAGCTTGAACCCTGGAGGTGGAGGTTGCAGTGAGCCAAAATCACGCCACTGCATTCCAGCCTGGGCAACAGACCGAGACTGTCTCAAAAAAAAAAAAAAATGATTTTTTTCAAGTGCTTTAAATGGTTATGTATAGTATAAATAATCTACAATGGAGATATATATATATATATATATAACTTTGATAAAAAATATGGTTAAACAATAGGGGTTTATAAAAACCTAA... | pathogenic | 239,281 |
Does the genetic variant at chromosome 15, position 90794167, impacting gene BLM (BLM RecQ like helicase), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Bloom_syndrome'] | CTCGCTCTTGTTGCCTAGGCTGAAGTGCAAAGGCTGGAATGCAATGGCACGATCTCGGCCCACTGCAACCTCTGCCTCCCAGATGCAAGCAGTTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCTCCCACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCCAGTGATCTGTCCGCCTCAGCCTCCCAAAGTTCTGGGATTACAGGCGTGAGCCACTATGCCCAGCCGAGACCACTTTTAAATTAACTCTGGCAGAAGTA... | CTCGCTCTTGTTGCCTAGGCTGAAGTGCAAAGGCTGGAATGCAATGGCACGATCTCGGCCCACTGCAACCTCTGCCTCCCAGATGCAAGCAGTTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCTCCCACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCCAGTGATCTGTCCGCCTCAGCCTCCCAAAGTTCTGGGATTACAGGCGTGAGCCACTATGCCCAGCCGAGACCACTTTTAAATTAACTCTGGCAGAAGTA... | pathogenic | 239,288 |
Variant in gene BLM (BLM RecQ like helicase), located at chromosome 15 position 90794174: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Bloom_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TTGTTGCCTAGGCTGAAGTGCAAAGGCTGGAATGCAATGGCACGATCTCGGCCCACTGCAACCTCTGCCTCCCAGATGCAAGCAGTTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCTCCCACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCCAGTGATCTGTCCGCCTCAGCCTCCCAAAGTTCTGGGATTACAGGCGTGAGCCACTATGCCCAGCCGAGACCACTTTTAAATTAACTCTGGCAGAAGTACAGTGCA... | TTGTTGCCTAGGCTGAAGTGCAAAGGCTGGAATGCAATGGCACGATCTCGGCCCACTGCAACCTCTGCCTCCCAGATGCAAGCAGTTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCTCCCACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCCAGTGATCTGTCCGCCTCAGCCTCCCAAAGTTCTGGGATTACAGGCGTGAGCCACTATGCCCAGCCGAGACCACTTTTAAATTAACTCTGGCAGAAGTACAGTGCA... | pathogenic | 239,289 |
Clinical significance of chromosome 15, position 90794358, gene BLM (BLM RecQ like helicase): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Bloom_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TGGCCAGGCTGGTCTTGAACTCCTGACCTCCAGTGATCTGTCCGCCTCAGCCTCCCAAAGTTCTGGGATTACAGGCGTGAGCCACTATGCCCAGCCGAGACCACTTTTAAATTAACTCTGGCAGAAGTACAGTGCATAGGAAATGGCACTTACCAAGCACTGTGCCCAACACTGCATATATCACCTCATTACCTTATTTGTTCAAAACAACTAACTTGTGATGTAGAGGTACTCCCATAAAAAGTGAGCTTCGGAAAGGTTTTGTAACTTTTCCCCAGGATCACTGATATGGCAGGAGCAATAAGAGTCGTTGTAGTAGT... | TGGCCAGGCTGGTCTTGAACTCCTGACCTCCAGTGATCTGTCCGCCTCAGCCTCCCAAAGTTCTGGGATTACAGGCGTGAGCCACTATGCCCAGCCGAGACCACTTTTAAATTAACTCTGGCAGAAGTACAGTGCATAGGAAATGGCACTTACCAAGCACTGTGCCCAACACTGCATATATCACCTCATTACCTTATTTGTTCAAAACAACTAACTTGTGATGTAGAGGTACTCCCATAAAAAGTGAGCTTCGGAAAGGTTTTGTAACTTTTCCCCAGGATCACTGATATGGCAGGAGCAATAAGAGTCGTTGTAGTAGT... | pathogenic | 239,313 |
The chromosome 15, position 90794393 genetic variant in gene BLM (BLM RecQ like helicase): benign or pathogenic? If pathogenic, indicate disease(s). | benign | ATCTGTCCGCCTCAGCCTCCCAAAGTTCTGGGATTACAGGCGTGAGCCACTATGCCCAGCCGAGACCACTTTTAAATTAACTCTGGCAGAAGTACAGTGCATAGGAAATGGCACTTACCAAGCACTGTGCCCAACACTGCATATATCACCTCATTACCTTATTTGTTCAAAACAACTAACTTGTGATGTAGAGGTACTCCCATAAAAAGTGAGCTTCGGAAAGGTTTTGTAACTTTTCCCCAGGATCACTGATATGGCAGGAGCAATAAGAGTCGTTGTAGTAGTAGTATAACAATGGTAATTATTATAGATAAGTGTTT... | ATCTGTCCGCCTCAGCCTCCCAAAGTTCTGGGATTACAGGCGTGAGCCACTATGCCCAGCCGAGACCACTTTTAAATTAACTCTGGCAGAAGTACAGTGCATAGGAAATGGCACTTACCAAGCACTGTGCCCAACACTGCATATATCACCTCATTACCTTATTTGTTCAAAACAACTAACTTGTGATGTAGAGGTACTCCCATAAAAAGTGAGCTTCGGAAAGGTTTTGTAACTTTTCCCCAGGATCACTGATATGGCAGGAGCAATAAGAGTCGTTGTAGTAGTAGTATAACAATGGTAATTATTATAGATAAGTGTTT... | benign | 239,314 |
Variant at chromosome 15, position 90798200, gene BLM (BLM RecQ like helicase): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Bloom_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | AGTTATCCTTGGCTAAGATGCAGAAGGCTGGTTGGCAGAGAAGATCAGGAGTTTGGTTTGGGTTACCTAAATTGGGAATCTAATATTGAATTACATATTAAGATTCAAAAATTCTGAAAACAGACTGGTGGCACATGGGTGATATTTAAAGCATGGCCATCAGCTGACAGTCGGGATAAGAGAAGGGACGGAAGAGAAAGGAGAAAGTATGAAATAGTTGTCTAGGACAGGGGTCAGTAAACTTGCTTTTAAAGGGCCACAGCATAAATATTGTACACTTCGCAGCCATAGTCTCTGTCACAACGACTCACAGCTTTGCC... | AGTTATCCTTGGCTAAGATGCAGAAGGCTGGTTGGCAGAGAAGATCAGGAGTTTGGTTTGGGTTACCTAAATTGGGAATCTAATATTGAATTACATATTAAGATTCAAAAATTCTGAAAACAGACTGGTGGCACATGGGTGATATTTAAAGCATGGCCATCAGCTGACAGTCGGGATAAGAGAAGGGACGGAAGAGAAAGGAGAAAGTATGAAATAGTTGTCTAGGACAGGGGTCAGTAAACTTGCTTTTAAAGGGCCACAGCATAAATATTGTACACTTCGCAGCCATAGTCTCTGTCACAACGACTCACAGCTTTGCC... | pathogenic | 239,316 |
The chromosome 15, position 90798237 genetic variant in gene BLM (BLM RecQ like helicase): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['BLM-related_disorder', 'Bloom_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | GAGAAGATCAGGAGTTTGGTTTGGGTTACCTAAATTGGGAATCTAATATTGAATTACATATTAAGATTCAAAAATTCTGAAAACAGACTGGTGGCACATGGGTGATATTTAAAGCATGGCCATCAGCTGACAGTCGGGATAAGAGAAGGGACGGAAGAGAAAGGAGAAAGTATGAAATAGTTGTCTAGGACAGGGGTCAGTAAACTTGCTTTTAAAGGGCCACAGCATAAATATTGTACACTTCGCAGCCATAGTCTCTGTCACAACGACTCACAGCTTTGCCATTGTAGTCTAAATGCAGACATAAATAATAAATACAC... | GAGAAGATCAGGAGTTTGGTTTGGGTTACCTAAATTGGGAATCTAATATTGAATTACATATTAAGATTCAAAAATTCTGAAAACAGACTGGTGGCACATGGGTGATATTTAAAGCATGGCCATCAGCTGACAGTCGGGATAAGAGAAGGGACGGAAGAGAAAGGAGAAAGTATGAAATAGTTGTCTAGGACAGGGGTCAGTAAACTTGCTTTTAAAGGGCCACAGCATAAATATTGTACACTTCGCAGCCATAGTCTCTGTCACAACGACTCACAGCTTTGCCATTGTAGTCTAAATGCAGACATAAATAATAAATACAC... | pathogenic | 239,320 |
A genetic alteration at chromosome 15, position 90798283, in gene BLM (BLM RecQ like helicase)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Bloom_syndrome'] | TATTGAATTACATATTAAGATTCAAAAATTCTGAAAACAGACTGGTGGCACATGGGTGATATTTAAAGCATGGCCATCAGCTGACAGTCGGGATAAGAGAAGGGACGGAAGAGAAAGGAGAAAGTATGAAATAGTTGTCTAGGACAGGGGTCAGTAAACTTGCTTTTAAAGGGCCACAGCATAAATATTGTACACTTCGCAGCCATAGTCTCTGTCACAACGACTCACAGCTTTGCCATTGTAGTCTAAATGCAGACATAAATAATAAATACACCAATTTTCTAGTCATCTTCCATGGCTGTGTTCCAATAAAACTTTAT... | TATTGAATTACATATTAAGATTCAAAAATTCTGAAAACAGACTGGTGGCACATGGGTGATATTTAAAGCATGGCCATCAGCTGACAGTCGGGATAAGAGAAGGGACGGAAGAGAAAGGAGAAAGTATGAAATAGTTGTCTAGGACAGGGGTCAGTAAACTTGCTTTTAAAGGGCCACAGCATAAATATTGTACACTTCGCAGCCATAGTCTCTGTCACAACGACTCACAGCTTTGCCATTGTAGTCTAAATGCAGACATAAATAATAAATACACCAATTTTCTAGTCATCTTCCATGGCTGTGTTCCAATAAAACTTTAT... | pathogenic | 239,324 |
Is the variant located on chromosome 15 at position 90803400, gene BLM (BLM RecQ like helicase), benign or pathogenic? If pathogenic, specify the disease(s) linked. | benign | TAAATGTTAATATTGATGATATAAAAGTAAAAGTACAATCGCTAAAAGTAAAAGAAGGCATACAGGGAAGGCTTGGGTACTAATGACATCTCACATGTGGGAAGGGGTAGTGGTCAGAAGTTCTATTGAAAGTTAGAAACATAATTAGTACATGACCCAACAGTATCATATAACTAGCAAAATTCAGAGAAGAATAAAACAAAGTGGGGGTGGTATGAATGAGATAAAACCTCATCTTTCATAATAAAGGGGCAAGGACAATAGATAAATGTCAGGCTTTTGGACAGAAGGCAAGATTTCAGGTCCTTCTGTGTGTAGGT... | TAAATGTTAATATTGATGATATAAAAGTAAAAGTACAATCGCTAAAAGTAAAAGAAGGCATACAGGGAAGGCTTGGGTACTAATGACATCTCACATGTGGGAAGGGGTAGTGGTCAGAAGTTCTATTGAAAGTTAGAAACATAATTAGTACATGACCCAACAGTATCATATAACTAGCAAAATTCAGAGAAGAATAAAACAAAGTGGGGGTGGTATGAATGAGATAAAACCTCATCTTTCATAATAAAGGGGCAAGGACAATAGATAAATGTCAGGCTTTTGGACAGAAGGCAAGATTTCAGGTCCTTCTGTGTGTAGGT... | benign | 239,332 |
Regarding the variant found on chromosome 15 at position 90803583 in gene BLM (BLM RecQ like helicase): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Bloom_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TCAGAGAAGAATAAAACAAAGTGGGGGTGGTATGAATGAGATAAAACCTCATCTTTCATAATAAAGGGGCAAGGACAATAGATAAATGTCAGGCTTTTGGACAGAAGGCAAGATTTCAGGTCCTTCTGTGTGTAGGTAGCCACCTGAAGAGCTGAAAACAAAAACTGTTTAAAAAGCGATTCCCTTGGGGAAGGGAAGGATGAGTCAGGGGAATGTTGCTTTTAATTATAAACCTTTCTGTCTGGGTACAGTGGCCCATGTCTGTAATTCCAGCACTTTGGGAGGCCAAGACAGACGGATTGCTTGAGCCCAGGAGTTCA... | TCAGAGAAGAATAAAACAAAGTGGGGGTGGTATGAATGAGATAAAACCTCATCTTTCATAATAAAGGGGCAAGGACAATAGATAAATGTCAGGCTTTTGGACAGAAGGCAAGATTTCAGGTCCTTCTGTGTGTAGGTAGCCACCTGAAGAGCTGAAAACAAAAACTGTTTAAAAAGCGATTCCCTTGGGGAAGGGAAGGATGAGTCAGGGGAATGTTGCTTTTAATTATAAACCTTTCTGTCTGGGTACAGTGGCCCATGTCTGTAATTCCAGCACTTTGGGAGGCCAAGACAGACGGATTGCTTGAGCCCAGGAGTTCA... | pathogenic | 239,340 |
The chromosome 15, position 90803595 genetic variant in gene BLM (BLM RecQ like helicase): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Bloom_syndrome'] | AAAACAAAGTGGGGGTGGTATGAATGAGATAAAACCTCATCTTTCATAATAAAGGGGCAAGGACAATAGATAAATGTCAGGCTTTTGGACAGAAGGCAAGATTTCAGGTCCTTCTGTGTGTAGGTAGCCACCTGAAGAGCTGAAAACAAAAACTGTTTAAAAAGCGATTCCCTTGGGGAAGGGAAGGATGAGTCAGGGGAATGTTGCTTTTAATTATAAACCTTTCTGTCTGGGTACAGTGGCCCATGTCTGTAATTCCAGCACTTTGGGAGGCCAAGACAGACGGATTGCTTGAGCCCAGGAGTTCAAGATCAGCCTGA... | AAAACAAAGTGGGGGTGGTATGAATGAGATAAAACCTCATCTTTCATAATAAAGGGGCAAGGACAATAGATAAATGTCAGGCTTTTGGACAGAAGGCAAGATTTCAGGTCCTTCTGTGTGTAGGTAGCCACCTGAAGAGCTGAAAACAAAAACTGTTTAAAAAGCGATTCCCTTGGGGAAGGGAAGGATGAGTCAGGGGAATGTTGCTTTTAATTATAAACCTTTCTGTCTGGGTACAGTGGCCCATGTCTGTAATTCCAGCACTTTGGGAGGCCAAGACAGACGGATTGCTTGAGCCCAGGAGTTCAAGATCAGCCTGA... | pathogenic | 239,343 |
Located at chromosome 15 position 90803636, the variant affecting gene BLM (BLM RecQ like helicase)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Bloom_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TTTCATAATAAAGGGGCAAGGACAATAGATAAATGTCAGGCTTTTGGACAGAAGGCAAGATTTCAGGTCCTTCTGTGTGTAGGTAGCCACCTGAAGAGCTGAAAACAAAAACTGTTTAAAAAGCGATTCCCTTGGGGAAGGGAAGGATGAGTCAGGGGAATGTTGCTTTTAATTATAAACCTTTCTGTCTGGGTACAGTGGCCCATGTCTGTAATTCCAGCACTTTGGGAGGCCAAGACAGACGGATTGCTTGAGCCCAGGAGTTCAAGATCAGCCTGAGCAACCTGGCGAAACCCTGTCTCTACCAAAAATACAAAAAT... | TTTCATAATAAAGGGGCAAGGACAATAGATAAATGTCAGGCTTTTGGACAGAAGGCAAGATTTCAGGTCCTTCTGTGTGTAGGTAGCCACCTGAAGAGCTGAAAACAAAAACTGTTTAAAAAGCGATTCCCTTGGGGAAGGGAAGGATGAGTCAGGGGAATGTTGCTTTTAATTATAAACCTTTCTGTCTGGGTACAGTGGCCCATGTCTGTAATTCCAGCACTTTGGGAGGCCAAGACAGACGGATTGCTTGAGCCCAGGAGTTCAAGATCAGCCTGAGCAACCTGGCGAAACCCTGTCTCTACCAAAAATACAAAAAT... | pathogenic | 239,348 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 15, position 90803659, gene BLM (BLM RecQ like helicase). What disease(s) is it linked to if pathogenic? | pathogenic; ['Bloom_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | AATAGATAAATGTCAGGCTTTTGGACAGAAGGCAAGATTTCAGGTCCTTCTGTGTGTAGGTAGCCACCTGAAGAGCTGAAAACAAAAACTGTTTAAAAAGCGATTCCCTTGGGGAAGGGAAGGATGAGTCAGGGGAATGTTGCTTTTAATTATAAACCTTTCTGTCTGGGTACAGTGGCCCATGTCTGTAATTCCAGCACTTTGGGAGGCCAAGACAGACGGATTGCTTGAGCCCAGGAGTTCAAGATCAGCCTGAGCAACCTGGCGAAACCCTGTCTCTACCAAAAATACAAAAATTAATCAGGCATGGTAGCACGCAC... | AATAGATAAATGTCAGGCTTTTGGACAGAAGGCAAGATTTCAGGTCCTTCTGTGTGTAGGTAGCCACCTGAAGAGCTGAAAACAAAAACTGTTTAAAAAGCGATTCCCTTGGGGAAGGGAAGGATGAGTCAGGGGAATGTTGCTTTTAATTATAAACCTTTCTGTCTGGGTACAGTGGCCCATGTCTGTAATTCCAGCACTTTGGGAGGCCAAGACAGACGGATTGCTTGAGCCCAGGAGTTCAAGATCAGCCTGAGCAACCTGGCGAAACCCTGTCTCTACCAAAAATACAAAAATTAATCAGGCATGGTAGCACGCAC... | pathogenic | 239,351 |
Chromosome 15, position 90803668, gene BLM (BLM RecQ like helicase): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Bloom_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | ATGTCAGGCTTTTGGACAGAAGGCAAGATTTCAGGTCCTTCTGTGTGTAGGTAGCCACCTGAAGAGCTGAAAACAAAAACTGTTTAAAAAGCGATTCCCTTGGGGAAGGGAAGGATGAGTCAGGGGAATGTTGCTTTTAATTATAAACCTTTCTGTCTGGGTACAGTGGCCCATGTCTGTAATTCCAGCACTTTGGGAGGCCAAGACAGACGGATTGCTTGAGCCCAGGAGTTCAAGATCAGCCTGAGCAACCTGGCGAAACCCTGTCTCTACCAAAAATACAAAAATTAATCAGGCATGGTAGCACGCACCTGTAGTGC... | ATGTCAGGCTTTTGGACAGAAGGCAAGATTTCAGGTCCTTCTGTGTGTAGGTAGCCACCTGAAGAGCTGAAAACAAAAACTGTTTAAAAAGCGATTCCCTTGGGGAAGGGAAGGATGAGTCAGGGGAATGTTGCTTTTAATTATAAACCTTTCTGTCTGGGTACAGTGGCCCATGTCTGTAATTCCAGCACTTTGGGAGGCCAAGACAGACGGATTGCTTGAGCCCAGGAGTTCAAGATCAGCCTGAGCAACCTGGCGAAACCCTGTCTCTACCAAAAATACAAAAATTAATCAGGCATGGTAGCACGCACCTGTAGTGC... | pathogenic | 239,356 |
Variant at chromosome 15, position 90803694, gene BLM (BLM RecQ like helicase): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Bloom_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | GATTTCAGGTCCTTCTGTGTGTAGGTAGCCACCTGAAGAGCTGAAAACAAAAACTGTTTAAAAAGCGATTCCCTTGGGGAAGGGAAGGATGAGTCAGGGGAATGTTGCTTTTAATTATAAACCTTTCTGTCTGGGTACAGTGGCCCATGTCTGTAATTCCAGCACTTTGGGAGGCCAAGACAGACGGATTGCTTGAGCCCAGGAGTTCAAGATCAGCCTGAGCAACCTGGCGAAACCCTGTCTCTACCAAAAATACAAAAATTAATCAGGCATGGTAGCACGCACCTGTAGTGCCAGCTACTCCAGAGGCTGATGTGGGA... | GATTTCAGGTCCTTCTGTGTGTAGGTAGCCACCTGAAGAGCTGAAAACAAAAACTGTTTAAAAAGCGATTCCCTTGGGGAAGGGAAGGATGAGTCAGGGGAATGTTGCTTTTAATTATAAACCTTTCTGTCTGGGTACAGTGGCCCATGTCTGTAATTCCAGCACTTTGGGAGGCCAAGACAGACGGATTGCTTGAGCCCAGGAGTTCAAGATCAGCCTGAGCAACCTGGCGAAACCCTGTCTCTACCAAAAATACAAAAATTAATCAGGCATGGTAGCACGCACCTGTAGTGCCAGCTACTCCAGAGGCTGATGTGGGA... | pathogenic | 239,362 |
Does the genetic variant at chromosome 15, position 90804171, impacting gene BLM (BLM RecQ like helicase), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Bloom_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | ATTCAGCCTATCATTAGCAGAACGGTAGTTCTGTTTCTATAATGTGGCCTTTCAGGGATACAAATTACTTAAAGAAAATTTTGAATAATTCAGGATATATGGCCAGAAGCCATTTGAAATGGACAATAATATAATTATTTGGAACTCTTTAAAACAGAGCTAAAGCTTTACGTAATAACCATTAATTCTGATTTTTATAAATGTCACAAGGTCTCTTAAGTAGATTGTTACAATAAAGTTGTGTTTATAATGAAGACATTAGCAGTCACAGCAGCTTATGAATGAAACAAAGGATCCAGCCAACTGTGGCTCTCGGCTAG... | ATTCAGCCTATCATTAGCAGAACGGTAGTTCTGTTTCTATAATGTGGCCTTTCAGGGATACAAATTACTTAAAGAAAATTTTGAATAATTCAGGATATATGGCCAGAAGCCATTTGAAATGGACAATAATATAATTATTTGGAACTCTTTAAAACAGAGCTAAAGCTTTACGTAATAACCATTAATTCTGATTTTTATAAATGTCACAAGGTCTCTTAAGTAGATTGTTACAATAAAGTTGTGTTTATAATGAAGACATTAGCAGTCACAGCAGCTTATGAATGAAACAAAGGATCCAGCCAACTGTGGCTCTCGGCTAG... | pathogenic | 239,370 |
Variant at chromosome position 90804172, chromosome 15, gene BLM (BLM RecQ like helicase): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Bloom_syndrome'] | TTCAGCCTATCATTAGCAGAACGGTAGTTCTGTTTCTATAATGTGGCCTTTCAGGGATACAAATTACTTAAAGAAAATTTTGAATAATTCAGGATATATGGCCAGAAGCCATTTGAAATGGACAATAATATAATTATTTGGAACTCTTTAAAACAGAGCTAAAGCTTTACGTAATAACCATTAATTCTGATTTTTATAAATGTCACAAGGTCTCTTAAGTAGATTGTTACAATAAAGTTGTGTTTATAATGAAGACATTAGCAGTCACAGCAGCTTATGAATGAAACAAAGGATCCAGCCAACTGTGGCTCTCGGCTAGT... | TTCAGCCTATCATTAGCAGAACGGTAGTTCTGTTTCTATAATGTGGCCTTTCAGGGATACAAATTACTTAAAGAAAATTTTGAATAATTCAGGATATATGGCCAGAAGCCATTTGAAATGGACAATAATATAATTATTTGGAACTCTTTAAAACAGAGCTAAAGCTTTACGTAATAACCATTAATTCTGATTTTTATAAATGTCACAAGGTCTCTTAAGTAGATTGTTACAATAAAGTTGTGTTTATAATGAAGACATTAGCAGTCACAGCAGCTTATGAATGAAACAAAGGATCCAGCCAACTGTGGCTCTCGGCTAGT... | pathogenic | 239,372 |
Determine if the mutation at chromosome 15, position 90804177 in gene BLM (BLM RecQ like helicase) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Bloom_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | CCTATCATTAGCAGAACGGTAGTTCTGTTTCTATAATGTGGCCTTTCAGGGATACAAATTACTTAAAGAAAATTTTGAATAATTCAGGATATATGGCCAGAAGCCATTTGAAATGGACAATAATATAATTATTTGGAACTCTTTAAAACAGAGCTAAAGCTTTACGTAATAACCATTAATTCTGATTTTTATAAATGTCACAAGGTCTCTTAAGTAGATTGTTACAATAAAGTTGTGTTTATAATGAAGACATTAGCAGTCACAGCAGCTTATGAATGAAACAAAGGATCCAGCCAACTGTGGCTCTCGGCTAGTAAGAG... | CCTATCATTAGCAGAACGGTAGTTCTGTTTCTATAATGTGGCCTTTCAGGGATACAAATTACTTAAAGAAAATTTTGAATAATTCAGGATATATGGCCAGAAGCCATTTGAAATGGACAATAATATAATTATTTGGAACTCTTTAAAACAGAGCTAAAGCTTTACGTAATAACCATTAATTCTGATTTTTATAAATGTCACAAGGTCTCTTAAGTAGATTGTTACAATAAAGTTGTGTTTATAATGAAGACATTAGCAGTCACAGCAGCTTATGAATGAAACAAAGGATCCAGCCAACTGTGGCTCTCGGCTAGTAAGAG... | pathogenic | 239,373 |
Gene BLM (BLM RecQ like helicase) variant at chromosome position 90804196 on chromosome 15: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Bloom_syndrome'] | TAGTTCTGTTTCTATAATGTGGCCTTTCAGGGATACAAATTACTTAAAGAAAATTTTGAATAATTCAGGATATATGGCCAGAAGCCATTTGAAATGGACAATAATATAATTATTTGGAACTCTTTAAAACAGAGCTAAAGCTTTACGTAATAACCATTAATTCTGATTTTTATAAATGTCACAAGGTCTCTTAAGTAGATTGTTACAATAAAGTTGTGTTTATAATGAAGACATTAGCAGTCACAGCAGCTTATGAATGAAACAAAGGATCCAGCCAACTGTGGCTCTCGGCTAGTAAGAGAAAGAGGGAAGTGTGTGTA... | TAGTTCTGTTTCTATAATGTGGCCTTTCAGGGATACAAATTACTTAAAGAAAATTTTGAATAATTCAGGATATATGGCCAGAAGCCATTTGAAATGGACAATAATATAATTATTTGGAACTCTTTAAAACAGAGCTAAAGCTTTACGTAATAACCATTAATTCTGATTTTTATAAATGTCACAAGGTCTCTTAAGTAGATTGTTACAATAAAGTTGTGTTTATAATGAAGACATTAGCAGTCACAGCAGCTTATGAATGAAACAAAGGATCCAGCCAACTGTGGCTCTCGGCTAGTAAGAGAAAGAGGGAAGTGTGTGTA... | pathogenic | 239,375 |
Mutation found at chromosome 15 position 90804245, gene BLM (BLM RecQ like helicase): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Bloom_syndrome'] | AAAATTTTGAATAATTCAGGATATATGGCCAGAAGCCATTTGAAATGGACAATAATATAATTATTTGGAACTCTTTAAAACAGAGCTAAAGCTTTACGTAATAACCATTAATTCTGATTTTTATAAATGTCACAAGGTCTCTTAAGTAGATTGTTACAATAAAGTTGTGTTTATAATGAAGACATTAGCAGTCACAGCAGCTTATGAATGAAACAAAGGATCCAGCCAACTGTGGCTCTCGGCTAGTAAGAGAAAGAGGGAAGTGTGTGTACATATTCCTGTCTTCATCTCTCCCCTTGAGCATCTTATAGGGTGTTGTG... | AAAATTTTGAATAATTCAGGATATATGGCCAGAAGCCATTTGAAATGGACAATAATATAATTATTTGGAACTCTTTAAAACAGAGCTAAAGCTTTACGTAATAACCATTAATTCTGATTTTTATAAATGTCACAAGGTCTCTTAAGTAGATTGTTACAATAAAGTTGTGTTTATAATGAAGACATTAGCAGTCACAGCAGCTTATGAATGAAACAAAGGATCCAGCCAACTGTGGCTCTCGGCTAGTAAGAGAAAGAGGGAAGTGTGTGTACATATTCCTGTCTTCATCTCTCCCCTTGAGCATCTTATAGGGTGTTGTG... | pathogenic | 239,386 |
Is chromosome 15, position 90804274, gene BLM (BLM RecQ like helicase) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Bloom_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | CAGAAGCCATTTGAAATGGACAATAATATAATTATTTGGAACTCTTTAAAACAGAGCTAAAGCTTTACGTAATAACCATTAATTCTGATTTTTATAAATGTCACAAGGTCTCTTAAGTAGATTGTTACAATAAAGTTGTGTTTATAATGAAGACATTAGCAGTCACAGCAGCTTATGAATGAAACAAAGGATCCAGCCAACTGTGGCTCTCGGCTAGTAAGAGAAAGAGGGAAGTGTGTGTACATATTCCTGTCTTCATCTCTCCCCTTGAGCATCTTATAGGGTGTTGTGCTTTTCTTTTAGAATTTGAATAGGCTTCA... | CAGAAGCCATTTGAAATGGACAATAATATAATTATTTGGAACTCTTTAAAACAGAGCTAAAGCTTTACGTAATAACCATTAATTCTGATTTTTATAAATGTCACAAGGTCTCTTAAGTAGATTGTTACAATAAAGTTGTGTTTATAATGAAGACATTAGCAGTCACAGCAGCTTATGAATGAAACAAAGGATCCAGCCAACTGTGGCTCTCGGCTAGTAAGAGAAAGAGGGAAGTGTGTGTACATATTCCTGTCTTCATCTCTCCCCTTGAGCATCTTATAGGGTGTTGTGCTTTTCTTTTAGAATTTGAATAGGCTTCA... | pathogenic | 239,391 |
The genetic variant at chromosome 15, position 90804298, affecting gene BLM (BLM RecQ like helicase): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Bloom_syndrome'] | AATATAATTATTTGGAACTCTTTAAAACAGAGCTAAAGCTTTACGTAATAACCATTAATTCTGATTTTTATAAATGTCACAAGGTCTCTTAAGTAGATTGTTACAATAAAGTTGTGTTTATAATGAAGACATTAGCAGTCACAGCAGCTTATGAATGAAACAAAGGATCCAGCCAACTGTGGCTCTCGGCTAGTAAGAGAAAGAGGGAAGTGTGTGTACATATTCCTGTCTTCATCTCTCCCCTTGAGCATCTTATAGGGTGTTGTGCTTTTCTTTTAGAATTTGAATAGGCTTCATTAGTGAGGGTGACAAAAAGAATA... | AATATAATTATTTGGAACTCTTTAAAACAGAGCTAAAGCTTTACGTAATAACCATTAATTCTGATTTTTATAAATGTCACAAGGTCTCTTAAGTAGATTGTTACAATAAAGTTGTGTTTATAATGAAGACATTAGCAGTCACAGCAGCTTATGAATGAAACAAAGGATCCAGCCAACTGTGGCTCTCGGCTAGTAAGAGAAAGAGGGAAGTGTGTGTACATATTCCTGTCTTCATCTCTCCCCTTGAGCATCTTATAGGGTGTTGTGCTTTTCTTTTAGAATTTGAATAGGCTTCATTAGTGAGGGTGACAAAAAGAATA... | pathogenic | 239,395 |
A genetic variant at chromosome 15, position 90804334, affecting gene BLM (BLM RecQ like helicase)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Bloom_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | AGCTTTACGTAATAACCATTAATTCTGATTTTTATAAATGTCACAAGGTCTCTTAAGTAGATTGTTACAATAAAGTTGTGTTTATAATGAAGACATTAGCAGTCACAGCAGCTTATGAATGAAACAAAGGATCCAGCCAACTGTGGCTCTCGGCTAGTAAGAGAAAGAGGGAAGTGTGTGTACATATTCCTGTCTTCATCTCTCCCCTTGAGCATCTTATAGGGTGTTGTGCTTTTCTTTTAGAATTTGAATAGGCTTCATTAGTGAGGGTGACAAAAAGAATAGACTTAAATACTTGGATTATAAACTAGTAGCAGTTT... | AGCTTTACGTAATAACCATTAATTCTGATTTTTATAAATGTCACAAGGTCTCTTAAGTAGATTGTTACAATAAAGTTGTGTTTATAATGAAGACATTAGCAGTCACAGCAGCTTATGAATGAAACAAAGGATCCAGCCAACTGTGGCTCTCGGCTAGTAAGAGAAAGAGGGAAGTGTGTGTACATATTCCTGTCTTCATCTCTCCCCTTGAGCATCTTATAGGGTGTTGTGCTTTTCTTTTAGAATTTGAATAGGCTTCATTAGTGAGGGTGACAAAAAGAATAGACTTAAATACTTGGATTATAAACTAGTAGCAGTTT... | pathogenic | 239,399 |
The genetic variant at chromosome 15, position 90804341, affecting gene BLM (BLM RecQ like helicase): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Bloom_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | CGTAATAACCATTAATTCTGATTTTTATAAATGTCACAAGGTCTCTTAAGTAGATTGTTACAATAAAGTTGTGTTTATAATGAAGACATTAGCAGTCACAGCAGCTTATGAATGAAACAAAGGATCCAGCCAACTGTGGCTCTCGGCTAGTAAGAGAAAGAGGGAAGTGTGTGTACATATTCCTGTCTTCATCTCTCCCCTTGAGCATCTTATAGGGTGTTGTGCTTTTCTTTTAGAATTTGAATAGGCTTCATTAGTGAGGGTGACAAAAAGAATAGACTTAAATACTTGGATTATAAACTAGTAGCAGTTTTGATAAC... | CGTAATAACCATTAATTCTGATTTTTATAAATGTCACAAGGTCTCTTAAGTAGATTGTTACAATAAAGTTGTGTTTATAATGAAGACATTAGCAGTCACAGCAGCTTATGAATGAAACAAAGGATCCAGCCAACTGTGGCTCTCGGCTAGTAAGAGAAAGAGGGAAGTGTGTGTACATATTCCTGTCTTCATCTCTCCCCTTGAGCATCTTATAGGGTGTTGTGCTTTTCTTTTAGAATTTGAATAGGCTTCATTAGTGAGGGTGACAAAAAGAATAGACTTAAATACTTGGATTATAAACTAGTAGCAGTTTTGATAAC... | pathogenic | 239,401 |
Clinically, how would you classify the variant at chromosome 15, position 90809136, gene BLM (BLM RecQ like helicase): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Bloom_syndrome'] | TGTTTTTCCCTATGTCATCACTAACATTCTCATTAGCCATAAGGCATTTCCAGAGTGTTCCACTATTTTCCCCAGGATTTAATCGAAATCTCTGTTATCAGTTCTGTTTTGAAGGTGGTGGTTTCTTGATGATACCAGAAGGTGTCAACAGAAGGTTGTACATCTCTCAGTAACAAAAATGTAGTGCGGCCTCATCTACTTTGGGCATCTTCTTTCTTAGGTCACGTAAAGCACTTGGTTGTACTTGCGAGAAACTATGGAATTGGGGGCCTGTGTCCTCAGAGACAAATAGTGCCTGGGTTTTTTTTGTTTTGCTTTGT... | TGTTTTTCCCTATGTCATCACTAACATTCTCATTAGCCATAAGGCATTTCCAGAGTGTTCCACTATTTTCCCCAGGATTTAATCGAAATCTCTGTTATCAGTTCTGTTTTGAAGGTGGTGGTTTCTTGATGATACCAGAAGGTGTCAACAGAAGGTTGTACATCTCTCAGTAACAAAAATGTAGTGCGGCCTCATCTACTTTGGGCATCTTCTTTCTTAGGTCACGTAAAGCACTTGGTTGTACTTGCGAGAAACTATGGAATTGGGGGCCTGTGTCCTCAGAGACAAATAGTGCCTGGGTTTTTTTTGTTTTGCTTTGT... | pathogenic | 239,410 |
Does the chromosome 15 mutation at position 90809228 within gene BLM (BLM RecQ like helicase) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Bloom_syndrome'] | TGTTATCAGTTCTGTTTTGAAGGTGGTGGTTTCTTGATGATACCAGAAGGTGTCAACAGAAGGTTGTACATCTCTCAGTAACAAAAATGTAGTGCGGCCTCATCTACTTTGGGCATCTTCTTTCTTAGGTCACGTAAAGCACTTGGTTGTACTTGCGAGAAACTATGGAATTGGGGGCCTGTGTCCTCAGAGACAAATAGTGCCTGGGTTTTTTTTGTTTTGCTTTGTTTTGTTTTTTTGGAGATAAGATCTTATTCTGTCGCCCAGGCTGGGTGCAGTGGTTGAACACAGCTCACTGCAGCCTAGACCTCCTGGGCTCA... | TGTTATCAGTTCTGTTTTGAAGGTGGTGGTTTCTTGATGATACCAGAAGGTGTCAACAGAAGGTTGTACATCTCTCAGTAACAAAAATGTAGTGCGGCCTCATCTACTTTGGGCATCTTCTTTCTTAGGTCACGTAAAGCACTTGGTTGTACTTGCGAGAAACTATGGAATTGGGGGCCTGTGTCCTCAGAGACAAATAGTGCCTGGGTTTTTTTTGTTTTGCTTTGTTTTGTTTTTTTGGAGATAAGATCTTATTCTGTCGCCCAGGCTGGGTGCAGTGGTTGAACACAGCTCACTGCAGCCTAGACCTCCTGGGCTCA... | pathogenic | 239,419 |
The chromosome 15, position 90811216 genetic variant in gene BLM (BLM RecQ like helicase): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Bloom_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TCAAATTGATGGTGTTACTGAAGACAAACTGGAAAAATATGGTGCGGAAGTGATTTCAGTATTACAGAAATACTCTGAATGGACATCGCCAGGTTAGTACACAGCCATGTGTGTTCTCTAAAAGCCTGTTTAATGTGAAGCGACGCGTCTCACTGAATTAGAAGGATGCAGTTGTGTGAATGCTTCCTACACCTCGTCACACTGACATCCAAGTCAGCCCCCAGTGGTGTGCCAGTCACCTCTGAGAGGACACTAGTGCTTATGCCCCCTGTGAGTGCCAGTTCTGAACTTACTCATAGGATCCAAAAGGGGACCTTTGG... | TCAAATTGATGGTGTTACTGAAGACAAACTGGAAAAATATGGTGCGGAAGTGATTTCAGTATTACAGAAATACTCTGAATGGACATCGCCAGGTTAGTACACAGCCATGTGTGTTCTCTAAAAGCCTGTTTAATGTGAAGCGACGCGTCTCACTGAATTAGAAGGATGCAGTTGTGTGAATGCTTCCTACACCTCGTCACACTGACATCCAAGTCAGCCCCCAGTGGTGTGCCAGTCACCTCTGAGAGGACACTAGTGCTTATGCCCCCTGTGAGTGCCAGTTCTGAACTTACTCATAGGATCCAAAAGGGGACCTTTGG... | pathogenic | 239,431 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 15, position 90811220, gene BLM (BLM RecQ like helicase). What disease(s) is it linked to if pathogenic? | pathogenic; ['Bloom_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | ATTGATGGTGTTACTGAAGACAAACTGGAAAAATATGGTGCGGAAGTGATTTCAGTATTACAGAAATACTCTGAATGGACATCGCCAGGTTAGTACACAGCCATGTGTGTTCTCTAAAAGCCTGTTTAATGTGAAGCGACGCGTCTCACTGAATTAGAAGGATGCAGTTGTGTGAATGCTTCCTACACCTCGTCACACTGACATCCAAGTCAGCCCCCAGTGGTGTGCCAGTCACCTCTGAGAGGACACTAGTGCTTATGCCCCCTGTGAGTGCCAGTTCTGAACTTACTCATAGGATCCAAAAGGGGACCTTTGGGCCC... | ATTGATGGTGTTACTGAAGACAAACTGGAAAAATATGGTGCGGAAGTGATTTCAGTATTACAGAAATACTCTGAATGGACATCGCCAGGTTAGTACACAGCCATGTGTGTTCTCTAAAAGCCTGTTTAATGTGAAGCGACGCGTCTCACTGAATTAGAAGGATGCAGTTGTGTGAATGCTTCCTACACCTCGTCACACTGACATCCAAGTCAGCCCCCAGTGGTGTGCCAGTCACCTCTGAGAGGACACTAGTGCTTATGCCCCCTGTGAGTGCCAGTTCTGAACTTACTCATAGGATCCAAAAGGGGACCTTTGGGCCC... | pathogenic | 239,432 |
A genetic alteration at chromosome 15, position 90811229, in gene BLM (BLM RecQ like helicase)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Bloom_syndrome'] | GTTACTGAAGACAAACTGGAAAAATATGGTGCGGAAGTGATTTCAGTATTACAGAAATACTCTGAATGGACATCGCCAGGTTAGTACACAGCCATGTGTGTTCTCTAAAAGCCTGTTTAATGTGAAGCGACGCGTCTCACTGAATTAGAAGGATGCAGTTGTGTGAATGCTTCCTACACCTCGTCACACTGACATCCAAGTCAGCCCCCAGTGGTGTGCCAGTCACCTCTGAGAGGACACTAGTGCTTATGCCCCCTGTGAGTGCCAGTTCTGAACTTACTCATAGGATCCAAAAGGGGACCTTTGGGCCCAGGGGTTGC... | GTTACTGAAGACAAACTGGAAAAATATGGTGCGGAAGTGATTTCAGTATTACAGAAATACTCTGAATGGACATCGCCAGGTTAGTACACAGCCATGTGTGTTCTCTAAAAGCCTGTTTAATGTGAAGCGACGCGTCTCACTGAATTAGAAGGATGCAGTTGTGTGAATGCTTCCTACACCTCGTCACACTGACATCCAAGTCAGCCCCCAGTGGTGTGCCAGTCACCTCTGAGAGGACACTAGTGCTTATGCCCCCTGTGAGTGCCAGTTCTGAACTTACTCATAGGATCCAAAAGGGGACCTTTGGGCCCAGGGGTTGC... | pathogenic | 239,435 |
Mutation at chromosome 15, position 90811285, within BLM (BLM RecQ like helicase): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Bloom_syndrome'] | ATACTCTGAATGGACATCGCCAGGTTAGTACACAGCCATGTGTGTTCTCTAAAAGCCTGTTTAATGTGAAGCGACGCGTCTCACTGAATTAGAAGGATGCAGTTGTGTGAATGCTTCCTACACCTCGTCACACTGACATCCAAGTCAGCCCCCAGTGGTGTGCCAGTCACCTCTGAGAGGACACTAGTGCTTATGCCCCCTGTGAGTGCCAGTTCTGAACTTACTCATAGGATCCAAAAGGGGACCTTTGGGCCCAGGGGTTGCTGGTTCCCGTAATGCAAGTGCTCAAGGGATCAGAGCCCTGGGTACCAGTTCCAGAT... | ATACTCTGAATGGACATCGCCAGGTTAGTACACAGCCATGTGTGTTCTCTAAAAGCCTGTTTAATGTGAAGCGACGCGTCTCACTGAATTAGAAGGATGCAGTTGTGTGAATGCTTCCTACACCTCGTCACACTGACATCCAAGTCAGCCCCCAGTGGTGTGCCAGTCACCTCTGAGAGGACACTAGTGCTTATGCCCCCTGTGAGTGCCAGTTCTGAACTTACTCATAGGATCCAAAAGGGGACCTTTGGGCCCAGGGGTTGCTGGTTCCCGTAATGCAAGTGCTCAAGGGATCAGAGCCCTGGGTACCAGTTCCAGAT... | pathogenic | 239,448 |
A genetic alteration at chromosome 15, position 90815041, in gene BLM (BLM RecQ like helicase)—benign or pathogenic? If pathogenic, which disease(s) is involved? | benign | AGACCTTAAAAGGCATCTGGCTCAACACCCAGGGTTTTTGAAGAGGAAGCTTAGGCCTGGCCTGGGGAGGGCTTATCGGAGGACAACCCTGCCTGGTCTCGATTTCAAAGGTAGAAGCGGACACTGGCCTGCCCACACCTGCCCAGAGCACGTTCACTTCTGCATGTTGCCTGTGGAGACTCCTAAAAAACACGCATGGTCTTCCATCTCATCTTTATGTATTAGAACAAAGCAAACCATATTGCTATTGGCTCCCTTATTTAATTTTCACAACTTTTGTTTGTAAGAGTGAAGCACTTTGCAGCATCATCTGGAACCTA... | AGACCTTAAAAGGCATCTGGCTCAACACCCAGGGTTTTTGAAGAGGAAGCTTAGGCCTGGCCTGGGGAGGGCTTATCGGAGGACAACCCTGCCTGGTCTCGATTTCAAAGGTAGAAGCGGACACTGGCCTGCCCACACCTGCCCAGAGCACGTTCACTTCTGCATGTTGCCTGTGGAGACTCCTAAAAAACACGCATGGTCTTCCATCTCATCTTTATGTATTAGAACAAAGCAAACCATATTGCTATTGGCTCCCTTATTTAATTTTCACAACTTTTGTTTGTAAGAGTGAAGCACTTTGCAGCATCATCTGGAACCTA... | benign | 239,462 |
Chromosome 15, position 91003121, gene VPS33B (VPS33B late endosome and lysosome associated): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Arthrogryposis,_renal_dysfunction,_and_cholestasis_1', 'Cholestasis,_progressive_familial_intrahepatic,_12', 'Keratoderma-ichthyosis-deafness_syndrome,_autosomal_recessive'] | TGGGAGGCCGAGGTGGGCGGATCACCTGAGGTCAGAAGTTCAAGACCAGCCTGGCCAACATGGGGAAACCTTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGCACATGCCTGTAATCCCTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGATTCCATCTCAAAAAAAAAAAAAAAAAAGAAAAGTACTCCACAATGGAATGAACCCACTGTCTCCCCTAACCATCCCTGTTCCACATACCAAA... | TGGGAGGCCGAGGTGGGCGGATCACCTGAGGTCAGAAGTTCAAGACCAGCCTGGCCAACATGGGGAAACCTTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGCACATGCCTGTAATCCCTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGATTCCATCTCAAAAAAAAAAAAAAAAAAGAAAAGTACTCCACAATGGAATGAACCCACTGTCTCCCCTAACCATCCCTGTTCCACATACCAAA... | pathogenic | 239,547 |
Determine if the mutation at chromosome 15, position 91013810 in gene VPS33B (VPS33B late endosome and lysosome associated) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Arthrogryposis,_renal_dysfunction,_and_cholestasis_1'] | CAGATTGCCTGAGCTCAGGAATTTGAGACCAGCTTGGGCAATATGGCAAAACCCCACCTCTTTTAAAAATATAAAAAATTAGCCACGCACGGTGGTGCACATCTGTAGTCCCAGCTACTCGGGAAGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGCGGAGGTTGCAGTGAGTCGAGATTGCGGCACTGCACTCCAGTCTGGGTGACAGAGCAATGCACTGTCTCCAAAAACAAAACAAAACAAAACAAAACAAAACAAGACAAGACAAAACACCAAAGCTGTCCTTGGAAGCATAATTTGAAAAGAAAAAAAAAAAA... | CAGATTGCCTGAGCTCAGGAATTTGAGACCAGCTTGGGCAATATGGCAAAACCCCACCTCTTTTAAAAATATAAAAAATTAGCCACGCACGGTGGTGCACATCTGTAGTCCCAGCTACTCGGGAAGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGCGGAGGTTGCAGTGAGTCGAGATTGCGGCACTGCACTCCAGTCTGGGTGACAGAGCAATGCACTGTCTCCAAAAACAAAACAAAACAAAACAAAACAAAACAAGACAAGACAAAACACCAAAGCTGTCCTTGGAAGCATAATTTGAAAAGAAAAAAAAAAAA... | pathogenic | 239,579 |
Is the variant located on chromosome 15 at position 92937588, gene CHD2 (chromodomain helicase DNA binding protein 2), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Developmental_and_epileptic_encephalopathy_94'] | GTGAATCTTTCTTATCTGAAGGACTAGCTGTTCATATTCCTTCAAGCATGCTTCTACTTCTCTCCAGTTTGACTGTGTAAGCCCCCTCTGAGGGGTAAACTGTTGTGGACTTGGTCTGAGGGAGACTGCAGACTCATGCTGGTCTCCCACTTACTGTAAACATCTTCCTTTCTTCCTTCCTGGTGATCACCTTATATTCCTTGGATTCTTAGCAAACATTTATTGTACTATGCTCCGGGGAAGCAGAATTAGACCAGTGTCCAGAGTGTATATACGAAGGTCTTTGTTTTAAAGAGACTGAAGGATATTAGGCAATACTA... | GTGAATCTTTCTTATCTGAAGGACTAGCTGTTCATATTCCTTCAAGCATGCTTCTACTTCTCTCCAGTTTGACTGTGTAAGCCCCCTCTGAGGGGTAAACTGTTGTGGACTTGGTCTGAGGGAGACTGCAGACTCATGCTGGTCTCCCACTTACTGTAAACATCTTCCTTTCTTCCTTCCTGGTGATCACCTTATATTCCTTGGATTCTTAGCAAACATTTATTGTACTATGCTCCGGGGAAGCAGAATTAGACCAGTGTCCAGAGTGTATATACGAAGGTCTTTGTTTTAAAGAGACTGAAGGATATTAGGCAATACTA... | pathogenic | 239,623 |
Regarding the variant found on chromosome 15 at position 92942962 in gene CHD2 (chromodomain helicase DNA binding protein 2): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Intellectual_disability'] | AAATATACATATAAATATATATAAAATATATATAAATATAAATATATATAAATATAAATATAAATATAAATATATATATAAATATATATATATAATTTTTTTTTTTGAGACGGAGTCTTGCTGTGTTGCCCAGGCTAGAGTGCAGTGGCGCGATCTTGGATCACTGCAACCTCTGCCTCCCGGATTCAAGTGATTCTGCTGCCTCAGCCTCCAGAGTAGCTGGGATTACAGGCGCCCACCATGCCGGCTAATTTTTGTATTTTTAATCGATACGGTCACCATGTTGGCCAGGCTGGTTTCTAACTCCTGACCTCGTGATT... | AAATATACATATAAATATATATAAAATATATATAAATATAAATATATATAAATATAAATATAAATATAAATATATATATAAATATATATATATAATTTTTTTTTTTGAGACGGAGTCTTGCTGTGTTGCCCAGGCTAGAGTGCAGTGGCGCGATCTTGGATCACTGCAACCTCTGCCTCCCGGATTCAAGTGATTCTGCTGCCTCAGCCTCCAGAGTAGCTGGGATTACAGGCGCCCACCATGCCGGCTAATTTTTGTATTTTTAATCGATACGGTCACCATGTTGGCCAGGCTGGTTTCTAACTCCTGACCTCGTGATT... | pathogenic | 239,648 |
Gene CHD2 (chromodomain helicase DNA binding protein 2) variant at chromosome 15, position 92945861—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Developmental_and_epileptic_encephalopathy_94'] | ATTCTGGTTTTACTACTGTGCAAAATGTGCTACTTTAGTAAATTACATGTTTTTTCTTTGACTCAAAACTGAAAATATGTACCCCTTAGATGGTGAGGTAGGCTTGTAAAGCAGTTAGAAATTTGAAATCCTCTGAAATATAATAATTCTAATATTAAGTTGCTGCTGTTGTCATCTGAAAGGTTTTGGTAATAAGAATAACTAGTTTTCCAAGTCATGTTTAATCAATCCTAAAACCCATATATATATAAGAAAAGGCGTACAGTTTTATTATCCTGATTTGTTGAGATGTATGAATTTGCCACATGAATCTATCACAT... | ATTCTGGTTTTACTACTGTGCAAAATGTGCTACTTTAGTAAATTACATGTTTTTTCTTTGACTCAAAACTGAAAATATGTACCCCTTAGATGGTGAGGTAGGCTTGTAAAGCAGTTAGAAATTTGAAATCCTCTGAAATATAATAATTCTAATATTAAGTTGCTGCTGTTGTCATCTGAAAGGTTTTGGTAATAAGAATAACTAGTTTTCCAAGTCATGTTTAATCAATCCTAAAACCCATATATATATAAGAAAAGGCGTACAGTTTTATTATCCTGATTTGTTGAGATGTATGAATTTGCCACATGAATCTATCACAT... | pathogenic | 239,663 |
Is the genetic mutation found on chromosome 15 at position 92946018, within the gene CHD2 (chromodomain helicase DNA binding protein 2), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | benign | AGTTGCTGCTGTTGTCATCTGAAAGGTTTTGGTAATAAGAATAACTAGTTTTCCAAGTCATGTTTAATCAATCCTAAAACCCATATATATATAAGAAAAGGCGTACAGTTTTATTATCCTGATTTGTTGAGATGTATGAATTTGCCACATGAATCTATCACATAAAAGAGTTATTTTTGGGTCTCTTTTTAGACAGGACACATCAGAGGCAGGTAACTGGTATATCCTTCTATGAGTGTAAGGTTTTCAGTGTTCTCTAAAAGTGTTTTTTTTGTTTGTTTGTTTTGTTTTGTAAAATCTCTGGCGTAATTACTAGTAAA... | AGTTGCTGCTGTTGTCATCTGAAAGGTTTTGGTAATAAGAATAACTAGTTTTCCAAGTCATGTTTAATCAATCCTAAAACCCATATATATATAAGAAAAGGCGTACAGTTTTATTATCCTGATTTGTTGAGATGTATGAATTTGCCACATGAATCTATCACATAAAAGAGTTATTTTTGGGTCTCTTTTTAGACAGGACACATCAGAGGCAGGTAACTGGTATATCCTTCTATGAGTGTAAGGTTTTCAGTGTTCTCTAAAAGTGTTTTTTTTGTTTGTTTGTTTTGTTTTGTAAAATCTCTGGCGTAATTACTAGTAAA... | benign | 239,664 |
Clinical significance of chromosome 15, position 92979169, gene CHD2 (chromodomain helicase DNA binding protein 2): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Developmental_and_epileptic_encephalopathy_94', 'Intellectual_disability'] | ATTTGTTTTAGATATCTCATCTTAAATTGTCCACTGTTTATCTTTAGACTTCTCTTTGGAGTGTGGTGGTGCTTAATATTTCTCTTAAGAATCACAGATTATGTGCCTGGACACTCCTGTTGATCACTTCTTTATTGGAATTGTTTAATTAAAATTCTTGTGAAGCAGCTGTCTCCATTTTTATTTCTATGGCATAATGTTGTTGAATGTGACTATTAGAACATGGAGACCTTTTCATTGCATCTCTATGTGTATGCTAAATATACCCATTTATCAAGATGGAACTCAGGACTACCAGTTTTTCAATGCTGCTTCTCTCT... | ATTTGTTTTAGATATCTCATCTTAAATTGTCCACTGTTTATCTTTAGACTTCTCTTTGGAGTGTGGTGGTGCTTAATATTTCTCTTAAGAATCACAGATTATGTGCCTGGACACTCCTGTTGATCACTTCTTTATTGGAATTGTTTAATTAAAATTCTTGTGAAGCAGCTGTCTCCATTTTTATTTCTATGGCATAATGTTGTTGAATGTGACTATTAGAACATGGAGACCTTTTCATTGCATCTCTATGTGTATGCTAAATATACCCATTTATCAAGATGGAACTCAGGACTACCAGTTTTTCAATGCTGCTTCTCTCT... | pathogenic | 239,731 |
Variant chromosome 15, position 92981402, gene CHD2: benign or pathogenic? Disease(s)? | pathogenic; ['Developmental_and_epileptic_encephalopathy_94', 'Intellectual_disability'] | TTTTCTACCACAGACATTAGTCTGTTCATTACCTGGAAGATGCCAGGCCAGAACCACAAATAGGATAGCATTTTCACTTTGAGTTTCTTGGTTCCTTTTTTTGCCCATCACCCCCCTTCTTATGTGTTTTCCTCTCTTTCTTGCCCTCTCCCTTACCTTTGCTTTTGGCTGCTCATGTGACATATGACACAGCAACAGCAGTGGAGTTGTGTGTTGGGTGTCAGCCTAGCATAATGTCACCTTTGACTTTTCTGCAGTGAGAATCCAGATTGGATTGGCAGCTGTTTTTTTTTTTTACTATTGGCAAAAATGTTTGTGTG... | TTTTCTACCACAGACATTAGTCTGTTCATTACCTGGAAGATGCCAGGCCAGAACCACAAATAGGATAGCATTTTCACTTTGAGTTTCTTGGTTCCTTTTTTTGCCCATCACCCCCCTTCTTATGTGTTTTCCTCTCTTTCTTGCCCTCTCCCTTACCTTTGCTTTTGGCTGCTCATGTGACATATGACACAGCAACAGCAGTGGAGTTGTGTGTTGGGTGTCAGCCTAGCATAATGTCACCTTTGACTTTTCTGCAGTGAGAATCCAGATTGGATTGGCAGCTGTTTTTTTTTTTTACTATTGGCAAAAATGTTTGTGTG... | pathogenic | 239,748 |
The mutation in gene CHD2 (chromodomain helicase DNA binding protein 2) at chromosome 15, position 92993013—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | benign | ATTTTACTGTGCCTTATTCCAAAAACTATTTGAGACAGTCAAAAAAATCTTAACAGCTGAAAAATCATTGGTTTTCTAATAACGAAAAATATGGTATTGAAGGTAACAGTGGTGAACTGAATACGCTGATGAAACGATATAAGGGTTTGTCACAATAGAGTCGTGATGATTGAATCCTTTATGACACAGTGAAGTCTATAAACTTGTATCTTCTAAAAAGGATATTAGAGCTAAGTCACAGTTCTCTAGCATGTTATCTAAGCAGGTTTATGTACAGTCACTGAGAATAAAGTTGATCTTTAATTTGAATAGATTTTTAG... | ATTTTACTGTGCCTTATTCCAAAAACTATTTGAGACAGTCAAAAAAATCTTAACAGCTGAAAAATCATTGGTTTTCTAATAACGAAAAATATGGTATTGAAGGTAACAGTGGTGAACTGAATACGCTGATGAAACGATATAAGGGTTTGTCACAATAGAGTCGTGATGATTGAATCCTTTATGACACAGTGAAGTCTATAAACTTGTATCTTCTAAAAAGGATATTAGAGCTAAGTCACAGTTCTCTAGCATGTTATCTAAGCAGGTTTATGTACAGTCACTGAGAATAAAGTTGATCTTTAATTTGAATAGATTTTTAG... | benign | 239,776 |
Evaluate if the mutation on chromosome 15 at position 92997085 in CHD2 (chromodomain helicase DNA binding protein 2) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['CHD2-related_disorder', 'Developmental_and_epileptic_encephalopathy_94'] | TTTATCCCAAACATATGTTTCCAAATACCAATACCAATCTTACTGTTAACAAAAGAATGCTGAAATGCGAAGTGTGATTTCTTTGCATTTCTTTTTGATCTTAGAATATATCACACTAACAATATAAAGTCAAAATATATGTTTAAATTATTCAAAGTTATTCCTTTCTCTGTGTGGTTAATGCCACCACCTTAATATATAGTTAGACTCTTTTGTTTTCATTTATTTTCAGTACTTAGGGACTGCTTTTCTCATTTAGATTCGATTTAATTTTTTTAATTATGTAAAAACATTTACATGGTTCAAAGTCACAACTATAA... | TTTATCCCAAACATATGTTTCCAAATACCAATACCAATCTTACTGTTAACAAAAGAATGCTGAAATGCGAAGTGTGATTTCTTTGCATTTCTTTTTGATCTTAGAATATATCACACTAACAATATAAAGTCAAAATATATGTTTAAATTATTCAAAGTTATTCCTTTCTCTGTGTGGTTAATGCCACCACCTTAATATATAGTTAGACTCTTTTGTTTTCATTTATTTTCAGTACTTAGGGACTGCTTTTCTCATTTAGATTCGATTTAATTTTTTTAATTATGTAAAAACATTTACATGGTTCAAAGTCACAACTATAA... | pathogenic | 239,782 |
Classify the chromosome 15 variant at position 92997299 affecting gene CHD2 (chromodomain helicase DNA binding protein 2) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Developmental_and_epileptic_encephalopathy_94', 'Inborn_genetic_diseases'] | GTTTTCATTTATTTTCAGTACTTAGGGACTGCTTTTCTCATTTAGATTCGATTTAATTTTTTTAATTATGTAAAAACATTTACATGGTTCAAAGTCACAACTATAAAACAAGGTACATTTGGAGCATCTTGTTTTCGTTTTTTGTTCCCCAGCTGCCTTCTCTTCCTCCTTAATAGGTCACTGTTTCTATTAGTTGTAAGTTTATCTTTGATTGTTTCTTTTAAAATTTAAGTGTGTGTGCGTGTGTATTTTCCTTCTTACACAGAAGAGAACATACTCTTTTGCACCTGCTTATTTTCATGACTGAGATAAATTCATAT... | GTTTTCATTTATTTTCAGTACTTAGGGACTGCTTTTCTCATTTAGATTCGATTTAATTTTTTTAATTATGTAAAAACATTTACATGGTTCAAAGTCACAACTATAAAACAAGGTACATTTGGAGCATCTTGTTTTCGTTTTTTGTTCCCCAGCTGCCTTCTCTTCCTCCTTAATAGGTCACTGTTTCTATTAGTTGTAAGTTTATCTTTGATTGTTTCTTTTAAAATTTAAGTGTGTGTGCGTGTGTATTTTCCTTCTTACACAGAAGAGAACATACTCTTTTGCACCTGCTTATTTTCATGACTGAGATAAATTCATAT... | pathogenic | 239,787 |
Clinical significance of chromosome 15, position 93002158, gene CHD2 (chromodomain helicase DNA binding protein 2): benign or pathogenic? Name the disease(s) if pathogenic. | benign | AAATTAGCCAGTGGTGGTGGCATGTGCTTGTAGTCCCACTTAGCTACTCGAGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGGCAAGATGGCACCTCTACACTCCAGCCTGGGTGACAGTGCAAGACTCCATCTCGGAAAAAAAAACGAAAAAGGAATATGGACATTTTAATGTGGTATAGGCCATGTATAAGGCCTATAGGTTTTTATTTGTTTTGGTTTGGTCTTGTGAGGTAAAATGAGTTGCACTCTTTTGATTTCTTTGGAATTTTCTTGTTTGAATTATATGGCTGCTACTGC... | AAATTAGCCAGTGGTGGTGGCATGTGCTTGTAGTCCCACTTAGCTACTCGAGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGGCAAGATGGCACCTCTACACTCCAGCCTGGGTGACAGTGCAAGACTCCATCTCGGAAAAAAAAACGAAAAAGGAATATGGACATTTTAATGTGGTATAGGCCATGTATAAGGCCTATAGGTTTTTATTTGTTTTGGTTTGGTCTTGTGAGGTAAAATGAGTTGCACTCTTTTGATTTCTTTGGAATTTTCTTGTTTGAATTATATGGCTGCTACTGC... | benign | 239,809 |
The mutation impacting CHD2 (chromodomain helicase DNA binding protein 2) on chromosome 15 at position 93002203: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Autistic_behavior', 'CHD2-related_disorder', 'Complex_neurodevelopmental_disorder', 'Developmental_and_epileptic_encephalopathy_94', 'Seizure'] | ACTCGAGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGGCAAGATGGCACCTCTACACTCCAGCCTGGGTGACAGTGCAAGACTCCATCTCGGAAAAAAAAACGAAAAAGGAATATGGACATTTTAATGTGGTATAGGCCATGTATAAGGCCTATAGGTTTTTATTTGTTTTGGTTTGGTCTTGTGAGGTAAAATGAGTTGCACTCTTTTGATTTCTTTGGAATTTTCTTGTTTGAATTATATGGCTGCTACTGCTTTAAAGAGTCATCATGTTGTTTGGTTATGCTTTTGAGTGTCTTG... | ACTCGAGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGGCAAGATGGCACCTCTACACTCCAGCCTGGGTGACAGTGCAAGACTCCATCTCGGAAAAAAAAACGAAAAAGGAATATGGACATTTTAATGTGGTATAGGCCATGTATAAGGCCTATAGGTTTTTATTTGTTTTGGTTTGGTCTTGTGAGGTAAAATGAGTTGCACTCTTTTGATTTCTTTGGAATTTTCTTGTTTGAATTATATGGCTGCTACTGCTTTAAAGAGTCATCATGTTGTTTGGTTATGCTTTTGAGTGTCTTG... | pathogenic | 239,813 |
Variant at chromosome 15, position 93002213, gene CHD2 (chromodomain helicase DNA binding protein 2): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Developmental_and_epileptic_encephalopathy_94'] | CTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGGCAAGATGGCACCTCTACACTCCAGCCTGGGTGACAGTGCAAGACTCCATCTCGGAAAAAAAAACGAAAAAGGAATATGGACATTTTAATGTGGTATAGGCCATGTATAAGGCCTATAGGTTTTTATTTGTTTTGGTTTGGTCTTGTGAGGTAAAATGAGTTGCACTCTTTTGATTTCTTTGGAATTTTCTTGTTTGAATTATATGGCTGCTACTGCTTTAAAGAGTCATCATGTTGTTTGGTTATGCTTTTGAGTGTCTTGATTTGTATTT... | CTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGGCAAGATGGCACCTCTACACTCCAGCCTGGGTGACAGTGCAAGACTCCATCTCGGAAAAAAAAACGAAAAAGGAATATGGACATTTTAATGTGGTATAGGCCATGTATAAGGCCTATAGGTTTTTATTTGTTTTGGTTTGGTCTTGTGAGGTAAAATGAGTTGCACTCTTTTGATTTCTTTGGAATTTTCTTGTTTGAATTATATGGCTGCTACTGCTTTAAAGAGTCATCATGTTGTTTGGTTATGCTTTTGAGTGTCTTGATTTGTATTT... | pathogenic | 239,814 |
Assess the variant on chromosome 15, position 93002269, impacting CHD2 (chromodomain helicase DNA binding protein 2): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | benign | GCACCTCTACACTCCAGCCTGGGTGACAGTGCAAGACTCCATCTCGGAAAAAAAAACGAAAAAGGAATATGGACATTTTAATGTGGTATAGGCCATGTATAAGGCCTATAGGTTTTTATTTGTTTTGGTTTGGTCTTGTGAGGTAAAATGAGTTGCACTCTTTTGATTTCTTTGGAATTTTCTTGTTTGAATTATATGGCTGCTACTGCTTTAAAGAGTCATCATGTTGTTTGGTTATGCTTTTGAGTGTCTTGATTTGTATTTTAATCATCATTTTCTCTCCTTTTCCAGGCCAAATTAAAGAAGCGGAAGCCTCGGGT... | GCACCTCTACACTCCAGCCTGGGTGACAGTGCAAGACTCCATCTCGGAAAAAAAAACGAAAAAGGAATATGGACATTTTAATGTGGTATAGGCCATGTATAAGGCCTATAGGTTTTTATTTGTTTTGGTTTGGTCTTGTGAGGTAAAATGAGTTGCACTCTTTTGATTTCTTTGGAATTTTCTTGTTTGAATTATATGGCTGCTACTGCTTTAAAGAGTCATCATGTTGTTTGGTTATGCTTTTGAGTGTCTTGATTTGTATTTTAATCATCATTTTCTCTCCTTTTCCAGGCCAAATTAAAGAAGCGGAAGCCTCGGGT... | benign | 239,816 |
A genetic variant at chromosome 15, position 93002269, affecting gene CHD2 (chromodomain helicase DNA binding protein 2)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Developmental_and_epileptic_encephalopathy_94'] | GCACCTCTACACTCCAGCCTGGGTGACAGTGCAAGACTCCATCTCGGAAAAAAAAACGAAAAAGGAATATGGACATTTTAATGTGGTATAGGCCATGTATAAGGCCTATAGGTTTTTATTTGTTTTGGTTTGGTCTTGTGAGGTAAAATGAGTTGCACTCTTTTGATTTCTTTGGAATTTTCTTGTTTGAATTATATGGCTGCTACTGCTTTAAAGAGTCATCATGTTGTTTGGTTATGCTTTTGAGTGTCTTGATTTGTATTTTAATCATCATTTTCTCTCCTTTTCCAGGCCAAATTAAAGAAGCGGAAGCCTCGGGT... | GCACCTCTACACTCCAGCCTGGGTGACAGTGCAAGACTCCATCTCGGAAAAAAAAACGAAAAAGGAATATGGACATTTTAATGTGGTATAGGCCATGTATAAGGCCTATAGGTTTTTATTTGTTTTGGTTTGGTCTTGTGAGGTAAAATGAGTTGCACTCTTTTGATTTCTTTGGAATTTTCTTGTTTGAATTATATGGCTGCTACTGCTTTAAAGAGTCATCATGTTGTTTGGTTATGCTTTTGAGTGTCTTGATTTGTATTTTAATCATCATTTTCTCTCCTTTTCCAGGCCAAATTAAAGAAGCGGAAGCCTCGGGT... | pathogenic | 239,817 |
Variant chromosome 15, position 93009325, gene CHD2 (chromodomain helicase DNA binding protein 2): benign or pathogenic? Disease(s)? | benign | TCGTTGGACATTTATTTTCATATTTTAGTGGTCATTCATGTTCCTTGTGAATTGCCTATTCAGTTATTCAAAATTGACATATTTGGAATAATTTATCTTTCTTACCTTTTCTGTAGGAATTCTTTTTACATTCTTAATACTAATCTTTTATTTTTTATAGTCATTACAGGTGTCTTTTAGTTTTTGGTATATTTTTTATTTTATGTCCTTTTTAAAAATTGAAGTATAACACAGAAAAATCCACAAATAATAAGTATGTAGCTGTGGAAATGACCACAAAGTGATGGGGAATTTGTAGAGTTTTCATTATTTGAAAATTT... | TCGTTGGACATTTATTTTCATATTTTAGTGGTCATTCATGTTCCTTGTGAATTGCCTATTCAGTTATTCAAAATTGACATATTTGGAATAATTTATCTTTCTTACCTTTTCTGTAGGAATTCTTTTTACATTCTTAATACTAATCTTTTATTTTTTATAGTCATTACAGGTGTCTTTTAGTTTTTGGTATATTTTTTATTTTATGTCCTTTTTAAAAATTGAAGTATAACACAGAAAAATCCACAAATAATAAGTATGTAGCTGTGGAAATGACCACAAAGTGATGGGGAATTTGTAGAGTTTTCATTATTTGAAAATTT... | benign | 239,839 |
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