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 |
|---|---|---|---|---|---|
Clinically, how would you classify the variant at chromosome 3, position 48595089, gene COL7A1 (collagen type VII alpha 1 chain): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Dominant_dystrophic_epidermolysis_bullosa_with_absence_of_skin', 'Epidermolysis_bullosa_dystrophica', 'Epidermolysis_bullosa_pruriginosa', 'Generalized_dominant_dystrophic_epidermolysis_bullosa', 'Nonsyndromic_congenital_nail_disorder_8', 'Pretibial_dystrophic_epidermolysis_bullosa', 'Recessive_dystrophic... | GCCAAGTGGGGATTGGGGTCCGGGGTCTAGGTCAGGGTACACCGTGTGGGCAGGAACTCACGAGGTCGGGTCACAGGCACGCCACCAGCAGTCGTGCACACTCTCCGGGAAACGAGGGGCAGTAGTGTCCTCAAGATGCTGAAGTCATTGACGAAGAAGAAGAAGTCACTGGTGGGCTGTGAGGCAACTCGCTTCAGCTCCTCAGGGTCAGCATTCTTGATCCCTGAAGTGACGACCCATCAGGACTCAGTCACCCACATGCTCTCTGACTGCCCCCACCCCCCAGCTGACCTGTCACTCCTGCTCGGTCCTTACCCACA... | GCCAAGTGGGGATTGGGGTCCGGGGTCTAGGTCAGGGTACACCGTGTGGGCAGGAACTCACGAGGTCGGGTCACAGGCACGCCACCAGCAGTCGTGCACACTCTCCGGGAAACGAGGGGCAGTAGTGTCCTCAAGATGCTGAAGTCATTGACGAAGAAGAAGAAGTCACTGGTGGGCTGTGAGGCAACTCGCTTCAGCTCCTCAGGGTCAGCATTCTTGATCCCTGAAGTGACGACCCATCAGGACTCAGTCACCCACATGCTCTCTGACTGCCCCCACCCCCCAGCTGACCTGTCACTCCTGCTCGGTCCTTACCCACA... | pathogenic | 68,298 |
Is the genetic change at chromosome 3, position 49033201, within gene QRICH1 (glutamine rich 1) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Intellectual_disability,_mild', 'Ververi-Brady_syndrome'] | ATTTTTGTATTTTTTAGTAGAGATGGGGTTTTTCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCACCTTGGCCTCCCAAAGTGCTTGGATTACAGGCGTGAGCCACGGTGCCCAGCCTCATGTTGTGTTTTCTACCCAATAATGATGGCCATTACAGTGGGGCCCTAAACTTGGGTTCACCCCCCTCCCCCGAACTGTGCTGTACCTCTATTAAGTACTTGGCATGCTGTATCCTCTAACAGTTATTCATCCATCCATTCAAGATTTATTCAAGGGTTACTAGTGCCAGGTCAGCACTAGGT... | ATTTTTGTATTTTTTAGTAGAGATGGGGTTTTTCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCACCTTGGCCTCCCAAAGTGCTTGGATTACAGGCGTGAGCCACGGTGCCCAGCCTCATGTTGTGTTTTCTACCCAATAATGATGGCCATTACAGTGGGGCCCTAAACTTGGGTTCACCCCCCTCCCCCGAACTGTGCTGTACCTCTATTAAGTACTTGGCATGCTGTATCCTCTAACAGTTATTCATCCATCCATTCAAGATTTATTCAAGGGTTACTAGTGCCAGGTCAGCACTAGGT... | pathogenic | 68,385 |
Does the chromosome 3 mutation at position 49046440 within gene QRICH1 (glutamine rich 1) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Ververi-Brady_syndrome'] | AGTGGAGTGACCCGGGGCTGAACATCCTTCAGAACTTCATGTAGCCACTCCGTGAACCGAACATAATAAAGATCGGAGAAAATGTCATCTACCCTTCCATTTTCAAAAAGATACTAAAAGAAAAACAATTAATAGAAGTTATTGGTAGTCTCCTGAACAAGGATTTCAGGGGAAATAAATATATTTTTCTACCAGTACTACTATCCTTCCCTACCCATTCACACCTCAACAAACCAAGGCACCAGCATGTGACACTTCCATAGTATGCCTAAGCTCATGTGACTGATTCTCATGACATTCTTGAGAGTTGGGTAAATAAG... | AGTGGAGTGACCCGGGGCTGAACATCCTTCAGAACTTCATGTAGCCACTCCGTGAACCGAACATAATAAAGATCGGAGAAAATGTCATCTACCCTTCCATTTTCAAAAAGATACTAAAAGAAAAACAATTAATAGAAGTTATTGGTAGTCTCCTGAACAAGGATTTCAGGGGAAATAAATATATTTTTCTACCAGTACTACTATCCTTCCCTACCCATTCACACCTCAACAAACCAAGGCACCAGCATGTGACACTTCCATAGTATGCCTAAGCTCATGTGACTGATTCTCATGACATTCTTGAGAGTTGGGTAAATAAG... | pathogenic | 68,387 |
Regarding the variant at chromosome 3 and position 49056907, affecting gene QRICH1 (glutamine rich 1): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Inborn_genetic_diseases', 'Ververi-Brady_syndrome'] | TACCATACTCCTACCTGGGAAACAAAGCAACAACCTGTCTCAAAAATAAATAAACTACAGTTCAAACGTCATTTTGTCCACAAAGACCTCTGTTGACTTCTTAACCTAGAATTTCTAAATTCCCAGTTTGTCTTTGTGTATATGTCATAATTATTCTGCCTTATAAATAATTCGAAGGAAAAGAAATCCTGAGTTCTTACTTTTCACAACTAGACTCTAAGCTATATGAAGCAAAAAACCTTCTCTTATTCTATTTCTAGGCCCAACAGCTAGATATTTAGCAGGTCCTTAACAATGTCACCTAGGATAATATGATACTG... | TACCATACTCCTACCTGGGAAACAAAGCAACAACCTGTCTCAAAAATAAATAAACTACAGTTCAAACGTCATTTTGTCCACAAAGACCTCTGTTGACTTCTTAACCTAGAATTTCTAAATTCCCAGTTTGTCTTTGTGTATATGTCATAATTATTCTGCCTTATAAATAATTCGAAGGAAAAGAAATCCTGAGTTCTTACTTTTCACAACTAGACTCTAAGCTATATGAAGCAAAAAACCTTCTCTTATTCTATTTCTAGGCCCAACAGCTAGATATTTAGCAGGTCCTTAACAATGTCACCTAGGATAATATGATACTG... | pathogenic | 68,392 |
Is chromosome 3, position 49057049, gene QRICH1 (glutamine rich 1) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Inborn_genetic_diseases', 'Ververi-Brady_syndrome'] | TGTCATAATTATTCTGCCTTATAAATAATTCGAAGGAAAAGAAATCCTGAGTTCTTACTTTTCACAACTAGACTCTAAGCTATATGAAGCAAAAAACCTTCTCTTATTCTATTTCTAGGCCCAACAGCTAGATATTTAGCAGGTCCTTAACAATGTCACCTAGGATAATATGATACTGCCTCTATGAAACCACCTGGTCAACCTTTGCTTAATTAATCACTTACAGCCCATGTTTCCAAGTGCAGTCCCTTATCTAACTTGTTTGTACCAGCTCCCACAAACATATGCATGCTCAGGAGCCTATGCCCACCGAGGCATAG... | TGTCATAATTATTCTGCCTTATAAATAATTCGAAGGAAAAGAAATCCTGAGTTCTTACTTTTCACAACTAGACTCTAAGCTATATGAAGCAAAAAACCTTCTCTTATTCTATTTCTAGGCCCAACAGCTAGATATTTAGCAGGTCCTTAACAATGTCACCTAGGATAATATGATACTGCCTCTATGAAACCACCTGGTCAACCTTTGCTTAATTAATCACTTACAGCCCATGTTTCCAAGTGCAGTCCCTTATCTAACTTGTTTGTACCAGCTCCCACAAACATATGCATGCTCAGGAGCCTATGCCCACCGAGGCATAG... | pathogenic | 68,393 |
Variant at chromosome position 49057049, chromosome 3, gene QRICH1 (glutamine rich 1): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Ververi-Brady_syndrome'] | TGTCATAATTATTCTGCCTTATAAATAATTCGAAGGAAAAGAAATCCTGAGTTCTTACTTTTCACAACTAGACTCTAAGCTATATGAAGCAAAAAACCTTCTCTTATTCTATTTCTAGGCCCAACAGCTAGATATTTAGCAGGTCCTTAACAATGTCACCTAGGATAATATGATACTGCCTCTATGAAACCACCTGGTCAACCTTTGCTTAATTAATCACTTACAGCCCATGTTTCCAAGTGCAGTCCCTTATCTAACTTGTTTGTACCAGCTCCCACAAACATATGCATGCTCAGGAGCCTATGCCCACCGAGGCATAG... | TGTCATAATTATTCTGCCTTATAAATAATTCGAAGGAAAAGAAATCCTGAGTTCTTACTTTTCACAACTAGACTCTAAGCTATATGAAGCAAAAAACCTTCTCTTATTCTATTTCTAGGCCCAACAGCTAGATATTTAGCAGGTCCTTAACAATGTCACCTAGGATAATATGATACTGCCTCTATGAAACCACCTGGTCAACCTTTGCTTAATTAATCACTTACAGCCCATGTTTCCAAGTGCAGTCCCTTATCTAACTTGTTTGTACCAGCTCCCACAAACATATGCATGCTCAGGAGCCTATGCCCACCGAGGCATAG... | pathogenic | 68,394 |
A genetic variant on chromosome 3, position 49057238, affects the gene QRICH1 (glutamine rich 1). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Ververi-Brady_syndrome'] | CCACCTGGTCAACCTTTGCTTAATTAATCACTTACAGCCCATGTTTCCAAGTGCAGTCCCTTATCTAACTTGTTTGTACCAGCTCCCACAAACATATGCATGCTCAGGAGCCTATGCCCACCGAGGCATAGCACCTTCATCAGTCCCATAAGACCAGAGGCCCTATATCCCACTCTAACGGGACCAGATATTTTACCAATCAGTTCTTTTAGACAGGGTCTCACTCTGTTCTCTAGGCTGAAATGCAATGGCATGATCATAGTAGCCTCAACCTCCCAGGCTCATGCAACCCTCGCATCTACGCTGGGACCACAGGTATG... | CCACCTGGTCAACCTTTGCTTAATTAATCACTTACAGCCCATGTTTCCAAGTGCAGTCCCTTATCTAACTTGTTTGTACCAGCTCCCACAAACATATGCATGCTCAGGAGCCTATGCCCACCGAGGCATAGCACCTTCATCAGTCCCATAAGACCAGAGGCCCTATATCCCACTCTAACGGGACCAGATATTTTACCAATCAGTTCTTTTAGACAGGGTCTCACTCTGTTCTCTAGGCTGAAATGCAATGGCATGATCATAGTAGCCTCAACCTCCCAGGCTCATGCAACCCTCGCATCTACGCTGGGACCACAGGTATG... | pathogenic | 68,395 |
Mutation found at chromosome 3 position 49057285, gene QRICH1 (glutamine rich 1): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Intellectual_disability', 'Ververi-Brady_syndrome'] | CAAGTGCAGTCCCTTATCTAACTTGTTTGTACCAGCTCCCACAAACATATGCATGCTCAGGAGCCTATGCCCACCGAGGCATAGCACCTTCATCAGTCCCATAAGACCAGAGGCCCTATATCCCACTCTAACGGGACCAGATATTTTACCAATCAGTTCTTTTAGACAGGGTCTCACTCTGTTCTCTAGGCTGAAATGCAATGGCATGATCATAGTAGCCTCAACCTCCCAGGCTCATGCAACCCTCGCATCTACGCTGGGACCACAGGTATGTGCCATCACACTAGACTATATTTTTTAAATTTTTGTAGAGATAGGGT... | CAAGTGCAGTCCCTTATCTAACTTGTTTGTACCAGCTCCCACAAACATATGCATGCTCAGGAGCCTATGCCCACCGAGGCATAGCACCTTCATCAGTCCCATAAGACCAGAGGCCCTATATCCCACTCTAACGGGACCAGATATTTTACCAATCAGTTCTTTTAGACAGGGTCTCACTCTGTTCTCTAGGCTGAAATGCAATGGCATGATCATAGTAGCCTCAACCTCCCAGGCTCATGCAACCCTCGCATCTACGCTGGGACCACAGGTATGTGCCATCACACTAGACTATATTTTTTAAATTTTTGTAGAGATAGGGT... | pathogenic | 68,396 |
Determine whether the variant at chromosome 3, position 49057366, in gene QRICH1 (glutamine rich 1) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Intellectual_disability', 'Ververi-Brady_syndrome'] | TAGCACCTTCATCAGTCCCATAAGACCAGAGGCCCTATATCCCACTCTAACGGGACCAGATATTTTACCAATCAGTTCTTTTAGACAGGGTCTCACTCTGTTCTCTAGGCTGAAATGCAATGGCATGATCATAGTAGCCTCAACCTCCCAGGCTCATGCAACCCTCGCATCTACGCTGGGACCACAGGTATGTGCCATCACACTAGACTATATTTTTTAAATTTTTGTAGAGATAGGGTCTTCCTATATTGCCCAGGCTGATCTCAAACTCCTGGGCTCAAGCATTCCTCCCACCTCAGCCTCCCAGACTGCTGGGATTA... | TAGCACCTTCATCAGTCCCATAAGACCAGAGGCCCTATATCCCACTCTAACGGGACCAGATATTTTACCAATCAGTTCTTTTAGACAGGGTCTCACTCTGTTCTCTAGGCTGAAATGCAATGGCATGATCATAGTAGCCTCAACCTCCCAGGCTCATGCAACCCTCGCATCTACGCTGGGACCACAGGTATGTGCCATCACACTAGACTATATTTTTTAAATTTTTGTAGAGATAGGGTCTTCCTATATTGCCCAGGCTGATCTCAAACTCCTGGGCTCAAGCATTCCTCCCACCTCAGCCTCCCAGACTGCTGGGATTA... | pathogenic | 68,397 |
A mutation at chromosome position 49076881 on chromosome 3 in gene QRICH1 (glutamine rich 1): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Ververi-Brady_syndrome'] | GCTGGGCGTGGTGGCAGCTGCCTGTAGTCCCAGCTACCTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCTGGGAGGCAGAGCTTGCAGTGAGCTGAGATTGCACCACTGCAGTCCAGCCTGGGCAACAGAGCGAGACTCCATCTTAAATAAAAAAGACCAAATATCTGTGGTGTTTTTAGTTTACAGTACTCGAAAATATTTTTAAGGCCAGGCATGGCAGCTCATATTTGTAATCTCAGCTCTTTGGGAGGCCAAGGCAGGAGAATATCTTGAGGCCAAGAGTTCAAGACCAGCCTGGGCAACATAGGGAGACTATAT... | GCTGGGCGTGGTGGCAGCTGCCTGTAGTCCCAGCTACCTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCTGGGAGGCAGAGCTTGCAGTGAGCTGAGATTGCACCACTGCAGTCCAGCCTGGGCAACAGAGCGAGACTCCATCTTAAATAAAAAAGACCAAATATCTGTGGTGTTTTTAGTTTACAGTACTCGAAAATATTTTTAAGGCCAGGCATGGCAGCTCATATTTGTAATCTCAGCTCTTTGGGAGGCCAAGGCAGGAGAATATCTTGAGGCCAAGAGTTCAAGACCAGCCTGGGCAACATAGGGAGACTATAT... | pathogenic | 68,398 |
For chromosome 3, position 49098499, gene QARS1 (glutaminyl-tRNA synthetase 1): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | benign | GTCAGGAGTTCAAGACCAGCCTGGCCAACATGGCAAAACCCCGTCTCTACTAAAAATACAAAAATTAGGCCAGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTCTGGGAGGCCGAGGCAGGCGGATCATGAGATCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAAATAGAAAAAATTAGCTGGGAGTGGTGGCGGGCGCCTGTAGTCCCAGCTATTTGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCAGAGCTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCA... | GTCAGGAGTTCAAGACCAGCCTGGCCAACATGGCAAAACCCCGTCTCTACTAAAAATACAAAAATTAGGCCAGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTCTGGGAGGCCGAGGCAGGCGGATCATGAGATCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAAATAGAAAAAATTAGCTGGGAGTGGTGGCGGGCGCCTGTAGTCCCAGCTATTTGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCAGAGCTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCA... | benign | 68,409 |
Considering the variant on chromosome 3, location 49098995, involving gene QARS1 (glutaminyl-tRNA synthetase 1), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | benign | TGTACTCCAGCCTGGGCAACAGGGCGAGATACTGTTTCAAAAAAAGAAAAAAAAAAAAAAAAGGATGGCAGGGTGGCTGGGCACAGTGGCTCATGCCTATAATCCCAGCACTCTAGGAGGCTGAGACAGGAGGACTGCTTGAAGCCAGTAATTCAAGACCAACCTGGGCAACATAGTGAGAACTTGCCTCTACAAAAAGTTTTAAAATTAGCCAGGCATGGTAGTGTGCACATGTAGTCTCAGCTAAGGCAGGAGAATAGCTTGAGCCCAGTAGTTTGAGGCCACAGTGAGCTATGATTGCACCACTTCACACCACCCTG... | TGTACTCCAGCCTGGGCAACAGGGCGAGATACTGTTTCAAAAAAAGAAAAAAAAAAAAAAAAGGATGGCAGGGTGGCTGGGCACAGTGGCTCATGCCTATAATCCCAGCACTCTAGGAGGCTGAGACAGGAGGACTGCTTGAAGCCAGTAATTCAAGACCAACCTGGGCAACATAGTGAGAACTTGCCTCTACAAAAAGTTTTAAAATTAGCCAGGCATGGTAGTGTGCACATGTAGTCTCAGCTAAGGCAGGAGAATAGCTTGAGCCCAGTAGTTTGAGGCCACAGTGAGCTATGATTGCACCACTTCACACCACCCTG... | benign | 68,418 |
Variant on chromosome 3, at position 49099091, affecting QARS1 (glutaminyl-tRNA synthetase 1): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | benign | CTATAATCCCAGCACTCTAGGAGGCTGAGACAGGAGGACTGCTTGAAGCCAGTAATTCAAGACCAACCTGGGCAACATAGTGAGAACTTGCCTCTACAAAAAGTTTTAAAATTAGCCAGGCATGGTAGTGTGCACATGTAGTCTCAGCTAAGGCAGGAGAATAGCTTGAGCCCAGTAGTTTGAGGCCACAGTGAGCTATGATTGCACCACTTCACACCACCCTGGGCAAGAGTAAGACCCCGTCTCTAAAATAAATAAAAAGAAAGGTTATTAGCTGCCTTAACGAAAGATATTAAAAATAATATCTTTCGGGTGTTTCA... | CTATAATCCCAGCACTCTAGGAGGCTGAGACAGGAGGACTGCTTGAAGCCAGTAATTCAAGACCAACCTGGGCAACATAGTGAGAACTTGCCTCTACAAAAAGTTTTAAAATTAGCCAGGCATGGTAGTGTGCACATGTAGTCTCAGCTAAGGCAGGAGAATAGCTTGAGCCCAGTAGTTTGAGGCCACAGTGAGCTATGATTGCACCACTTCACACCACCCTGGGCAAGAGTAAGACCCCGTCTCTAAAATAAATAAAAAGAAAGGTTATTAGCTGCCTTAACGAAAGATATTAAAAATAATATCTTTCGGGTGTTTCA... | benign | 68,419 |
Evaluate this variant at chromosome 3, position 49099584, gene QARS1 (glutaminyl-tRNA synthetase 1): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Diffuse_cerebral_and_cerebellar_atrophy_-_intractable_seizures_-_progressive_microcephaly_syndrome'] | ACTGTGATCCCAGCACTTTGGGAGGCCGAGGCGGGCAGATCATGAAGTCAGGAATTCGAGACCATCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCCGGGTGTGGTGGCAGGCGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATGGTGCCATTGCACTCCAGCCCCGGGCGACAGTGCAAGACTGTCTCAAAAAAAAAGGCAGCCTTCATACAAAATTTTGTGCCTGGAGTTATCCTCAGTGCCAGTTTC... | ACTGTGATCCCAGCACTTTGGGAGGCCGAGGCGGGCAGATCATGAAGTCAGGAATTCGAGACCATCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCCGGGTGTGGTGGCAGGCGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATGGTGCCATTGCACTCCAGCCCCGGGCGACAGTGCAAGACTGTCTCAAAAAAAAAGGCAGCCTTCATACAAAATTTTGTGCCTGGAGTTATCCTCAGTGCCAGTTTC... | pathogenic | 68,429 |
Clinically, how would you classify the variant at chromosome 3, position 49099783, gene QARS1 (glutaminyl-tRNA synthetase 1): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Diffuse_cerebral_and_cerebellar_atrophy_-_intractable_seizures_-_progressive_microcephaly_syndrome'] | GCAGTGAGCCGAGATGGTGCCATTGCACTCCAGCCCCGGGCGACAGTGCAAGACTGTCTCAAAAAAAAAGGCAGCCTTCATACAAAATTTTGTGCCTGGAGTTATCCTCAGTGCCAGTTTCCTCACTAGTAGAATATGAATACCAACTCCCTCAGGTGGTGAGGATTAACTAAGGGAATGTATGCAGAGCACTTGGCACAATGAACGGCAGCCACTGTCACTGCTGCAGATGAGGGCAGGTGAGTAAAGTCAAGCACCTTTCCCTGATGGCTGTCTGGATCCACGGAGAAATATCCAAGACGCTCAAACTGGAACTTGTC... | GCAGTGAGCCGAGATGGTGCCATTGCACTCCAGCCCCGGGCGACAGTGCAAGACTGTCTCAAAAAAAAAGGCAGCCTTCATACAAAATTTTGTGCCTGGAGTTATCCTCAGTGCCAGTTTCCTCACTAGTAGAATATGAATACCAACTCCCTCAGGTGGTGAGGATTAACTAAGGGAATGTATGCAGAGCACTTGGCACAATGAACGGCAGCCACTGTCACTGCTGCAGATGAGGGCAGGTGAGTAAAGTCAAGCACCTTTCCCTGATGGCTGTCTGGATCCACGGAGAAATATCCAAGACGCTCAAACTGGAACTTGTC... | pathogenic | 68,433 |
Does the variant impacting QARS1 (glutaminyl-tRNA synthetase 1) on chromosome 3, position 49100422, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Diffuse_cerebral_and_cerebellar_atrophy_-_intractable_seizures_-_progressive_microcephaly_syndrome'] | TCACACATCAAAGGCTGTGACACCCAGTGAATAAAGGCCTTTGGCTTCTCTCCAGCATCTGCCCGTCTGCAGGTCACCTCCAGACTCTCTACACAACCACTGGGGCCCTGGAAGTGGGGGGAGGGGAGCAGCAATTAGACCCGGGAACCACAACCAGGACTGCAGGCTATACTCACATCTTGGCCCCAGCAGGCACTGCAGTAGGAAGGCTGCAGCTGGCTCTCACCTTGACAACATGCTGCAGCTCAATGACGTAGCCTGTATGCCTCAGGCCCACAGGCTGGCCCCAAGCCAGGCGCTTAAATCCTGGCTCTGGCTCC... | TCACACATCAAAGGCTGTGACACCCAGTGAATAAAGGCCTTTGGCTTCTCTCCAGCATCTGCCCGTCTGCAGGTCACCTCCAGACTCTCTACACAACCACTGGGGCCCTGGAAGTGGGGGGAGGGGAGCAGCAATTAGACCCGGGAACCACAACCAGGACTGCAGGCTATACTCACATCTTGGCCCCAGCAGGCACTGCAGTAGGAAGGCTGCAGCTGGCTCTCACCTTGACAACATGCTGCAGCTCAATGACGTAGCCTGTATGCCTCAGGCCCACAGGCTGGCCCCAAGCCAGGCGCTTAAATCCTGGCTCTGGCTCC... | pathogenic | 68,444 |
Mutation found at chromosome 3 position 49122322, gene LAMB2 (laminin subunit beta 2): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['LAMB2-related_infantile-onset_nephrotic_syndrome', 'Pierson_syndrome'] | GGATACCCTTCTACAGGTCAGATGTGGTACTGGTGGGCTGGATCTTTAATGACACCTGCCACCGGCGCCTCCTTCTTGCACCCAGGCCCCAGCCGAAGGTCGCGTCCCTCCCCCATGCCCCAGGGACGTCGAGGCGGGTAAGGGGCTGTTTAGAGACCCGAGCCGGCCTGAAATGGCAGCGCGGGGTTACTGACCACAGATCAGCGCCCCGGTCGAGCTGCGACCCAGCTTCAGCCTCTGAACCCCGAGCCCGCCACCACCTCTCCCACGAAGTTGCCCTCGCTGGCCGCCAGTCCTCTCCCAGGTGGGAGGCTGGCCAC... | GGATACCCTTCTACAGGTCAGATGTGGTACTGGTGGGCTGGATCTTTAATGACACCTGCCACCGGCGCCTCCTTCTTGCACCCAGGCCCCAGCCGAAGGTCGCGTCCCTCCCCCATGCCCCAGGGACGTCGAGGCGGGTAAGGGGCTGTTTAGAGACCCGAGCCGGCCTGAAATGGCAGCGCGGGGTTACTGACCACAGATCAGCGCCCCGGTCGAGCTGCGACCCAGCTTCAGCCTCTGAACCCCGAGCCCGCCACCACCTCTCCCACGAAGTTGCCCTCGCTGGCCGCCAGTCCTCTCCCAGGTGGGAGGCTGGCCAC... | pathogenic | 68,506 |
For chromosome 3, position 49123646, gene LAMB2 (laminin subunit beta 2): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | benign | GATGTAGAGGGTTAGGTTAGCGTGGTAGCTCAGTGGAGGCCCATCTTCCACCCCTACCTTCTCCAGCTGGCTCTGCCTCAACCCACCTGCTCAGCCTCCTGGGCACGACCCTGGGCACTGCCTGCCGTTTCTTCTGCTGTAGAGGCTGCCAGACTATTTCCTGCCCGTTTCAATTTCAGAGCCTCCAGGAGAGCATCCAACTGCCGAGCCCTTTCACCTGCAGAGCTCAGTGCCCGCTCTGCACCTGCCATCCTCTCCTGTACCTGCCATGGGTGAGCCAAAGGTTACACAGATCTACGGTTCATGCCCATAACCTTGTC... | GATGTAGAGGGTTAGGTTAGCGTGGTAGCTCAGTGGAGGCCCATCTTCCACCCCTACCTTCTCCAGCTGGCTCTGCCTCAACCCACCTGCTCAGCCTCCTGGGCACGACCCTGGGCACTGCCTGCCGTTTCTTCTGCTGTAGAGGCTGCCAGACTATTTCCTGCCCGTTTCAATTTCAGAGCCTCCAGGAGAGCATCCAACTGCCGAGCCCTTTCACCTGCAGAGCTCAGTGCCCGCTCTGCACCTGCCATCCTCTCCTGTACCTGCCATGGGTGAGCCAAAGGTTACACAGATCTACGGTTCATGCCCATAACCTTGTC... | benign | 68,522 |
Assess the variant on chromosome 3, position 49124514, impacting LAMB2 (laminin subunit beta 2): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['LAMB2-related_infantile-onset_nephrotic_syndrome'] | TAGGGGTTTGTTACCAGGCATAAGGATATAATCACAAGGACAGGGACTATACAAGGGGCTCAGACTCAAGAACATGGACCTGGGACCACATATGGGCAATAACTCAGGAGCCAGTCAAGGGATCATAAACACTAATCCAGTGTAGTCCCTGAGGCTCAAGTATGAACCAAGGGAGATACAGACACCGGGAGTTGCCAAAGGGGACAACCACATGGCCTGGGACACGTGGGAGGCTCACGGTTGAGGAAGTCCTTCACACTCTGGATAAGTTCTTGAAGTTCCTGGTTGGCCTGTTCCACCTGTCCCCTGGAAGCATTAGC... | TAGGGGTTTGTTACCAGGCATAAGGATATAATCACAAGGACAGGGACTATACAAGGGGCTCAGACTCAAGAACATGGACCTGGGACCACATATGGGCAATAACTCAGGAGCCAGTCAAGGGATCATAAACACTAATCCAGTGTAGTCCCTGAGGCTCAAGTATGAACCAAGGGAGATACAGACACCGGGAGTTGCCAAAGGGGACAACCACATGGCCTGGGACACGTGGGAGGCTCACGGTTGAGGAAGTCCTTCACACTCTGGATAAGTTCTTGAAGTTCCTGGTTGGCCTGTTCCACCTGTCCCCTGGAAGCATTAGC... | pathogenic | 68,530 |
Variant at chromosome position 49125271, chromosome 3, gene LAMB2 (laminin subunit beta 2): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['LAMB2-related_infantile-onset_nephrotic_syndrome', 'Pierson_syndrome'] | TCCTCCTTCTGAGCATCCATCAGTGCCTCTGTCCGATGCCGAGCACTTGCCGAGTTGCTCACAGGGCTAGGTACTGCCAGGGCTGAGGTATTGGCACGACGTTCTGCCTCTGCAGACTGGCTATGGGCATGCCGGATGCTGTCATAGGCACCTAAATTGGGCAGAGGCAGACAGTCAGCTGAAGACTGACCCTGGTCCACCTGCCTAGTTGGCTAACAACTCACCCAGGAAGTTTGAATGTTTGAGCAAGTCAAGATGCTGGTCGAGCTGCCGCAGTGTGAGATTAAGTGCAAGCCTATCTCGCTCCAGACCACTTAGTG... | TCCTCCTTCTGAGCATCCATCAGTGCCTCTGTCCGATGCCGAGCACTTGCCGAGTTGCTCACAGGGCTAGGTACTGCCAGGGCTGAGGTATTGGCACGACGTTCTGCCTCTGCAGACTGGCTATGGGCATGCCGGATGCTGTCATAGGCACCTAAATTGGGCAGAGGCAGACAGTCAGCTGAAGACTGACCCTGGTCCACCTGCCTAGTTGGCTAACAACTCACCCAGGAAGTTTGAATGTTTGAGCAAGTCAAGATGCTGGTCGAGCTGCCGCAGTGTGAGATTAAGTGCAAGCCTATCTCGCTCCAGACCACTTAGTG... | pathogenic | 68,537 |
Clinical significance of chromosome 3, position 49129278, gene LAMB2 (laminin subunit beta 2): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['LAMB2-related_infantile-onset_nephrotic_syndrome', 'Pierson_syndrome'] | CCTGCCTCAGTGTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCTGGTCTAGAGGAATTTTTTTTCTAAACACAAGTCACAGTTGGCAAAATGTCTATAATGGGCACAGCCAGGTTCAATATGTTATTCTCTTTCCTTCTGTTTGAATATTTACATGGTCAAAAACTAAAAGCAATAGGTCAAGTGCAGTGGTTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGAAAGGTGGATCACAAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAG... | CCTGCCTCAGTGTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCTGGTCTAGAGGAATTTTTTTTCTAAACACAAGTCACAGTTGGCAAAATGTCTATAATGGGCACAGCCAGGTTCAATATGTTATTCTCTTTCCTTCTGTTTGAATATTTACATGGTCAAAAACTAAAAGCAATAGGTCAAGTGCAGTGGTTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGAAAGGTGGATCACAAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAG... | pathogenic | 68,555 |
Variant chromosome 3, position 49129644, gene LAMB2 (laminin subunit beta 2): benign or pathogenic? Disease(s)? | pathogenic; ['LAMB2-related_disorder', 'LAMB2-related_infantile-onset_nephrotic_syndrome', 'Pierson_syndrome'] | GAGGCAGGAGAATGGCGTGAACCTGGGAGGTGGAGCTTGCAGTGAGCCGAGATCGCGCCAGTGCACTCCAGCCTGGGCGACAGAGCAAGACTCCATCTCAAAAACAAACAAACAAACAAACAAAACATGAAACAATGAAACAGGGCTGGGCACGGTGGCTCACACCTGTAATCCCAACACTTTGGGAGGCCAAGGCGGGCAGATCACAAGGTCAGAAGATCGAGGCCATCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAAACTAGCTGGGCGTGGTGGCGTGCACCTGTAGTCCCAGCTACTCGGG... | GAGGCAGGAGAATGGCGTGAACCTGGGAGGTGGAGCTTGCAGTGAGCCGAGATCGCGCCAGTGCACTCCAGCCTGGGCGACAGAGCAAGACTCCATCTCAAAAACAAACAAACAAACAAACAAAACATGAAACAATGAAACAGGGCTGGGCACGGTGGCTCACACCTGTAATCCCAACACTTTGGGAGGCCAAGGCGGGCAGATCACAAGGTCAGAAGATCGAGGCCATCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAAACTAGCTGGGCGTGGTGGCGTGCACCTGTAGTCCCAGCTACTCGGG... | pathogenic | 68,558 |
Chromosome 3, position 49129967, gene LAMB2 (laminin subunit beta 2): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['LAMB2-related_infantile-onset_nephrotic_syndrome', 'Pierson_syndrome'] | CTGACACATGAGAATTGCTTGAACCCGGGAGGTGGAGATTACAGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAGAAAAGAAAAGAAAAAAAAAAGAAACATGAAACATGAAACAAATACTACCCAAAATGTAATAAAACATTAATCAGACCAGGCACATCCCTGCTCAGAGTGCTCTGATGCCACAACCCCACCACTACCACCCTCTACCACCACCACTGTGGACCCTCCTGATAGTGACACCAGGTGATTTCCCATTAATTCCTGCCTTGG... | CTGACACATGAGAATTGCTTGAACCCGGGAGGTGGAGATTACAGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAGAAAAGAAAAGAAAAAAAAAAGAAACATGAAACATGAAACAAATACTACCCAAAATGTAATAAAACATTAATCAGACCAGGCACATCCCTGCTCAGAGTGCTCTGATGCCACAACCCCACCACTACCACCCTCTACCACCACCACTGTGGACCCTCCTGATAGTGACACCAGGTGATTTCCCATTAATTCCTGCCTTGG... | pathogenic | 68,565 |
Variant at chromosome position 49130417, chromosome 3, gene LAMB2 (laminin subunit beta 2): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['LAMB2-related_infantile-onset_nephrotic_syndrome', 'Pierson_syndrome'] | GCTGTGGGGTCTTCCAGGTGCCCTGCAGGGAGCTTAGGGCTGGCCCCACAACCCCCTGCCATTGTGAGTGCTACCACCAGTGCCCTCACCTGGCATGTGGTTGCAGAGTCCCTTGGATGCGATCATCCTTGGGCACCAAATGCCCACACAGGCTGTGGGCAGGCACAGGCCCTGGACGCTGCACAATCAGTTCCAACTCTGCCCATTGCTCAGGGACCTGGGAAAACGGGATGATGGAGGAGATGCTCCCACACCCAGAGGTTCAGCCCCAGATTAGATAACAGGGTCTAACCTGGGGCTCTAAGCGCAGCAGCAGGTCA... | GCTGTGGGGTCTTCCAGGTGCCCTGCAGGGAGCTTAGGGCTGGCCCCACAACCCCCTGCCATTGTGAGTGCTACCACCAGTGCCCTCACCTGGCATGTGGTTGCAGAGTCCCTTGGATGCGATCATCCTTGGGCACCAAATGCCCACACAGGCTGTGGGCAGGCACAGGCCCTGGACGCTGCACAATCAGTTCCAACTCTGCCCATTGCTCAGGGACCTGGGAAAACGGGATGATGGAGGAGATGCTCCCACACCCAGAGGTTCAGCCCCAGATTAGATAACAGGGTCTAACCTGGGGCTCTAAGCGCAGCAGCAGGTCA... | pathogenic | 68,568 |
Gene AMT (aminomethyltransferase) variant at chromosome position 49417643 on chromosome 3: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Glycine_encephalopathy', 'Glycine_encephalopathy_1', 'Glycine_encephalopathy_2'] | GCCCTGAGTTTTCTGAATCTCTGGTTTTGCTTTGTTGGCAAGGAGCCAGGGAATCCTGACCTGAGCCAGACCTTAAGCTCTATGGTTATTTAGCTGGCCATTCAGGTATAAGGCAGGGTGGTGTACCTGCTGGCACTATCCAGATGGAGGCACCAAACACCCACATACCTGGCCCAACCAGACTTCTCCCGTGAGCCAGGCAAAGGAAATTGTCATCTGCCAACTGTCCTACTCATATTCCTCTCAGTCCTTCTTGGGGGTAAGCTGATTACCTGAAGGACAGCTGAACCCCTGGGGTAGCCTCCTATCCACCACTGCTT... | GCCCTGAGTTTTCTGAATCTCTGGTTTTGCTTTGTTGGCAAGGAGCCAGGGAATCCTGACCTGAGCCAGACCTTAAGCTCTATGGTTATTTAGCTGGCCATTCAGGTATAAGGCAGGGTGGTGTACCTGCTGGCACTATCCAGATGGAGGCACCAAACACCCACATACCTGGCCCAACCAGACTTCTCCCGTGAGCCAGGCAAAGGAAATTGTCATCTGCCAACTGTCCTACTCATATTCCTCTCAGTCCTTCTTGGGGGTAAGCTGATTACCTGAAGGACAGCTGAACCCCTGGGGTAGCCTCCTATCCACCACTGCTT... | pathogenic | 68,592 |
Considering the genetic mutation at chromosome 3, position 49417695, impacting AMT (aminomethyltransferase): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Glycine_encephalopathy'] | ATCCTGACCTGAGCCAGACCTTAAGCTCTATGGTTATTTAGCTGGCCATTCAGGTATAAGGCAGGGTGGTGTACCTGCTGGCACTATCCAGATGGAGGCACCAAACACCCACATACCTGGCCCAACCAGACTTCTCCCGTGAGCCAGGCAAAGGAAATTGTCATCTGCCAACTGTCCTACTCATATTCCTCTCAGTCCTTCTTGGGGGTAAGCTGATTACCTGAAGGACAGCTGAACCCCTGGGGTAGCCTCCTATCCACCACTGCTTAAGTGCCTATGGGAATGTGGGTCTGCACCTTGTCCCCTCATAGGATGGTACC... | ATCCTGACCTGAGCCAGACCTTAAGCTCTATGGTTATTTAGCTGGCCATTCAGGTATAAGGCAGGGTGGTGTACCTGCTGGCACTATCCAGATGGAGGCACCAAACACCCACATACCTGGCCCAACCAGACTTCTCCCGTGAGCCAGGCAAAGGAAATTGTCATCTGCCAACTGTCCTACTCATATTCCTCTCAGTCCTTCTTGGGGGTAAGCTGATTACCTGAAGGACAGCTGAACCCCTGGGGTAGCCTCCTATCCACCACTGCTTAAGTGCCTATGGGAATGTGGGTCTGCACCTTGTCCCCTCATAGGATGGTACC... | pathogenic | 68,593 |
Mutation at chromosome 3, position 49417717, within AMT (aminomethyltransferase): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Glycine_encephalopathy'] | AAGCTCTATGGTTATTTAGCTGGCCATTCAGGTATAAGGCAGGGTGGTGTACCTGCTGGCACTATCCAGATGGAGGCACCAAACACCCACATACCTGGCCCAACCAGACTTCTCCCGTGAGCCAGGCAAAGGAAATTGTCATCTGCCAACTGTCCTACTCATATTCCTCTCAGTCCTTCTTGGGGGTAAGCTGATTACCTGAAGGACAGCTGAACCCCTGGGGTAGCCTCCTATCCACCACTGCTTAAGTGCCTATGGGAATGTGGGTCTGCACCTTGTCCCCTCATAGGATGGTACCAAGCATTTAGTGCACAGTGGCC... | AAGCTCTATGGTTATTTAGCTGGCCATTCAGGTATAAGGCAGGGTGGTGTACCTGCTGGCACTATCCAGATGGAGGCACCAAACACCCACATACCTGGCCCAACCAGACTTCTCCCGTGAGCCAGGCAAAGGAAATTGTCATCTGCCAACTGTCCTACTCATATTCCTCTCAGTCCTTCTTGGGGGTAAGCTGATTACCTGAAGGACAGCTGAACCCCTGGGGTAGCCTCCTATCCACCACTGCTTAAGTGCCTATGGGAATGTGGGTCTGCACCTTGTCCCCTCATAGGATGGTACCAAGCATTTAGTGCACAGTGGCC... | pathogenic | 68,594 |
Is chromosome 3, position 49417854, gene AMT (aminomethyltransferase) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Glycine_encephalopathy', 'Glycine_encephalopathy_2'] | GTCATCTGCCAACTGTCCTACTCATATTCCTCTCAGTCCTTCTTGGGGGTAAGCTGATTACCTGAAGGACAGCTGAACCCCTGGGGTAGCCTCCTATCCACCACTGCTTAAGTGCCTATGGGAATGTGGGTCTGCACCTTGTCCCCTCATAGGATGGTACCAAGCATTTAGTGCACAGTGGCCCCATCATAGCCTGCAGCCTCATCATTTCCCATCTGGACCTGGTACAAATGCACGTCACAGGCTCAGCTCCTCCCCACTAGCATTTTCTCTACCTTCAAGAACCAGGCAGCCCTGCCATGTCACAATAGGCCAGGGGA... | GTCATCTGCCAACTGTCCTACTCATATTCCTCTCAGTCCTTCTTGGGGGTAAGCTGATTACCTGAAGGACAGCTGAACCCCTGGGGTAGCCTCCTATCCACCACTGCTTAAGTGCCTATGGGAATGTGGGTCTGCACCTTGTCCCCTCATAGGATGGTACCAAGCATTTAGTGCACAGTGGCCCCATCATAGCCTGCAGCCTCATCATTTCCCATCTGGACCTGGTACAAATGCACGTCACAGGCTCAGCTCCTCCCCACTAGCATTTTCTCTACCTTCAAGAACCAGGCAGCCCTGCCATGTCACAATAGGCCAGGGGA... | pathogenic | 68,596 |
Considering the variant on chromosome 3, location 49417863, involving gene AMT (aminomethyltransferase), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Glycine_encephalopathy'] | CAACTGTCCTACTCATATTCCTCTCAGTCCTTCTTGGGGGTAAGCTGATTACCTGAAGGACAGCTGAACCCCTGGGGTAGCCTCCTATCCACCACTGCTTAAGTGCCTATGGGAATGTGGGTCTGCACCTTGTCCCCTCATAGGATGGTACCAAGCATTTAGTGCACAGTGGCCCCATCATAGCCTGCAGCCTCATCATTTCCCATCTGGACCTGGTACAAATGCACGTCACAGGCTCAGCTCCTCCCCACTAGCATTTTCTCTACCTTCAAGAACCAGGCAGCCCTGCCATGTCACAATAGGCCAGGGGAGTTTCCAAA... | CAACTGTCCTACTCATATTCCTCTCAGTCCTTCTTGGGGGTAAGCTGATTACCTGAAGGACAGCTGAACCCCTGGGGTAGCCTCCTATCCACCACTGCTTAAGTGCCTATGGGAATGTGGGTCTGCACCTTGTCCCCTCATAGGATGGTACCAAGCATTTAGTGCACAGTGGCCCCATCATAGCCTGCAGCCTCATCATTTCCCATCTGGACCTGGTACAAATGCACGTCACAGGCTCAGCTCCTCCCCACTAGCATTTTCTCTACCTTCAAGAACCAGGCAGCCCTGCCATGTCACAATAGGCCAGGGGAGTTTCCAAA... | pathogenic | 68,598 |
Clinical impact (benign or pathogenic) of the variant at chromosome 3, location 49417868, gene AMT (aminomethyltransferase): what disease(s) if pathogenic? | pathogenic; ['Glycine_encephalopathy'] | GTCCTACTCATATTCCTCTCAGTCCTTCTTGGGGGTAAGCTGATTACCTGAAGGACAGCTGAACCCCTGGGGTAGCCTCCTATCCACCACTGCTTAAGTGCCTATGGGAATGTGGGTCTGCACCTTGTCCCCTCATAGGATGGTACCAAGCATTTAGTGCACAGTGGCCCCATCATAGCCTGCAGCCTCATCATTTCCCATCTGGACCTGGTACAAATGCACGTCACAGGCTCAGCTCCTCCCCACTAGCATTTTCTCTACCTTCAAGAACCAGGCAGCCCTGCCATGTCACAATAGGCCAGGGGAGTTTCCAAAGATGT... | GTCCTACTCATATTCCTCTCAGTCCTTCTTGGGGGTAAGCTGATTACCTGAAGGACAGCTGAACCCCTGGGGTAGCCTCCTATCCACCACTGCTTAAGTGCCTATGGGAATGTGGGTCTGCACCTTGTCCCCTCATAGGATGGTACCAAGCATTTAGTGCACAGTGGCCCCATCATAGCCTGCAGCCTCATCATTTCCCATCTGGACCTGGTACAAATGCACGTCACAGGCTCAGCTCCTCCCCACTAGCATTTTCTCTACCTTCAAGAACCAGGCAGCCCTGCCATGTCACAATAGGCCAGGGGAGTTTCCAAAGATGT... | pathogenic | 68,599 |
The chromosome 3, position 49417868 genetic variant in gene AMT (aminomethyltransferase): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Glycine_encephalopathy'] | GTCCTACTCATATTCCTCTCAGTCCTTCTTGGGGGTAAGCTGATTACCTGAAGGACAGCTGAACCCCTGGGGTAGCCTCCTATCCACCACTGCTTAAGTGCCTATGGGAATGTGGGTCTGCACCTTGTCCCCTCATAGGATGGTACCAAGCATTTAGTGCACAGTGGCCCCATCATAGCCTGCAGCCTCATCATTTCCCATCTGGACCTGGTACAAATGCACGTCACAGGCTCAGCTCCTCCCCACTAGCATTTTCTCTACCTTCAAGAACCAGGCAGCCCTGCCATGTCACAATAGGCCAGGGGAGTTTCCAAAGATGT... | GTCCTACTCATATTCCTCTCAGTCCTTCTTGGGGGTAAGCTGATTACCTGAAGGACAGCTGAACCCCTGGGGTAGCCTCCTATCCACCACTGCTTAAGTGCCTATGGGAATGTGGGTCTGCACCTTGTCCCCTCATAGGATGGTACCAAGCATTTAGTGCACAGTGGCCCCATCATAGCCTGCAGCCTCATCATTTCCCATCTGGACCTGGTACAAATGCACGTCACAGGCTCAGCTCCTCCCCACTAGCATTTTCTCTACCTTCAAGAACCAGGCAGCCCTGCCATGTCACAATAGGCCAGGGGAGTTTCCAAAGATGT... | pathogenic | 68,600 |
Is the genetic mutation found on chromosome 3 at position 49417868, within the gene AMT (aminomethyltransferase), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Glycine_encephalopathy'] | GTCCTACTCATATTCCTCTCAGTCCTTCTTGGGGGTAAGCTGATTACCTGAAGGACAGCTGAACCCCTGGGGTAGCCTCCTATCCACCACTGCTTAAGTGCCTATGGGAATGTGGGTCTGCACCTTGTCCCCTCATAGGATGGTACCAAGCATTTAGTGCACAGTGGCCCCATCATAGCCTGCAGCCTCATCATTTCCCATCTGGACCTGGTACAAATGCACGTCACAGGCTCAGCTCCTCCCCACTAGCATTTTCTCTACCTTCAAGAACCAGGCAGCCCTGCCATGTCACAATAGGCCAGGGGAGTTTCCAAAGATGT... | GTCCTACTCATATTCCTCTCAGTCCTTCTTGGGGGTAAGCTGATTACCTGAAGGACAGCTGAACCCCTGGGGTAGCCTCCTATCCACCACTGCTTAAGTGCCTATGGGAATGTGGGTCTGCACCTTGTCCCCTCATAGGATGGTACCAAGCATTTAGTGCACAGTGGCCCCATCATAGCCTGCAGCCTCATCATTTCCCATCTGGACCTGGTACAAATGCACGTCACAGGCTCAGCTCCTCCCCACTAGCATTTTCTCTACCTTCAAGAACCAGGCAGCCCTGCCATGTCACAATAGGCCAGGGGAGTTTCCAAAGATGT... | pathogenic | 68,601 |
Classify the chromosome 3 variant at position 49417942 affecting gene AMT (aminomethyltransferase) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Glycine_encephalopathy'] | GCCTCCTATCCACCACTGCTTAAGTGCCTATGGGAATGTGGGTCTGCACCTTGTCCCCTCATAGGATGGTACCAAGCATTTAGTGCACAGTGGCCCCATCATAGCCTGCAGCCTCATCATTTCCCATCTGGACCTGGTACAAATGCACGTCACAGGCTCAGCTCCTCCCCACTAGCATTTTCTCTACCTTCAAGAACCAGGCAGCCCTGCCATGTCACAATAGGCCAGGGGAGTTTCCAAAGATGTGGGTGGCAAATGCCCCTATAGAAACACCAGTACCTGAAAGCACTGTAGCCCTGGACCTGCCTCCTTCCCTCGGG... | GCCTCCTATCCACCACTGCTTAAGTGCCTATGGGAATGTGGGTCTGCACCTTGTCCCCTCATAGGATGGTACCAAGCATTTAGTGCACAGTGGCCCCATCATAGCCTGCAGCCTCATCATTTCCCATCTGGACCTGGTACAAATGCACGTCACAGGCTCAGCTCCTCCCCACTAGCATTTTCTCTACCTTCAAGAACCAGGCAGCCCTGCCATGTCACAATAGGCCAGGGGAGTTTCCAAAGATGTGGGTGGCAAATGCCCCTATAGAAACACCAGTACCTGAAAGCACTGTAGCCCTGGACCTGCCTCCTTCCCTCGGG... | pathogenic | 68,606 |
Is the genetic mutation found on chromosome 3 at position 49419238, within the gene AMT (aminomethyltransferase), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Glycine_encephalopathy', 'Inborn_genetic_diseases'] | TCCTCTCCACAAAGGTGAGCCTTTGCTCCACAGCCAGCACCTGGCAGAGTGGGAGAGATGGCAGAACCAAAGCTTCTCATTACCCTCCAGCAGGCAAGAGTAGGTCAGTGGGATCATGGACTGAAACAAGACATTGTGTGAGCTGGTCCGTCACTCAGAAGCAGGGTCCTGAAGGAAGCTGGAATGGCATGAGTTAGGTGGGGGGAATAGGTGGTGTGGCCCCTCAACCAGACAATTAGAATCAGCCTCCACCTTAACTGCCCACCCCCAGTGAGTTCTGCCTCAGCTTCTTGACTAACCCCTTGTAGGGGCAAAACTCC... | TCCTCTCCACAAAGGTGAGCCTTTGCTCCACAGCCAGCACCTGGCAGAGTGGGAGAGATGGCAGAACCAAAGCTTCTCATTACCCTCCAGCAGGCAAGAGTAGGTCAGTGGGATCATGGACTGAAACAAGACATTGTGTGAGCTGGTCCGTCACTCAGAAGCAGGGTCCTGAAGGAAGCTGGAATGGCATGAGTTAGGTGGGGGGAATAGGTGGTGTGGCCCCTCAACCAGACAATTAGAATCAGCCTCCACCTTAACTGCCCACCCCCAGTGAGTTCTGCCTCAGCTTCTTGACTAACCCCTTGTAGGGGCAAAACTCC... | pathogenic | 68,620 |
Classify the chromosome 3 variant at position 49419298 affecting gene AMT (aminomethyltransferase) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Glycine_encephalopathy'] | GCAGAACCAAAGCTTCTCATTACCCTCCAGCAGGCAAGAGTAGGTCAGTGGGATCATGGACTGAAACAAGACATTGTGTGAGCTGGTCCGTCACTCAGAAGCAGGGTCCTGAAGGAAGCTGGAATGGCATGAGTTAGGTGGGGGGAATAGGTGGTGTGGCCCCTCAACCAGACAATTAGAATCAGCCTCCACCTTAACTGCCCACCCCCAGTGAGTTCTGCCTCAGCTTCTTGACTAACCCCTTGTAGGGGCAAAACTCCTGGAAGGGACAGCCCCACCCTGAGCCAGCTTCACTTGAGGGTATAGTAGTTTGTGGGCAC... | GCAGAACCAAAGCTTCTCATTACCCTCCAGCAGGCAAGAGTAGGTCAGTGGGATCATGGACTGAAACAAGACATTGTGTGAGCTGGTCCGTCACTCAGAAGCAGGGTCCTGAAGGAAGCTGGAATGGCATGAGTTAGGTGGGGGGAATAGGTGGTGTGGCCCCTCAACCAGACAATTAGAATCAGCCTCCACCTTAACTGCCCACCCCCAGTGAGTTCTGCCTCAGCTTCTTGACTAACCCCTTGTAGGGGCAAAACTCCTGGAAGGGACAGCCCCACCCTGAGCCAGCTTCACTTGAGGGTATAGTAGTTTGTGGGCAC... | pathogenic | 68,622 |
Does the chromosome 3 mutation at position 49419352 within gene AMT (aminomethyltransferase) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Glycine_encephalopathy', 'Glycine_encephalopathy_2'] | CATGGACTGAAACAAGACATTGTGTGAGCTGGTCCGTCACTCAGAAGCAGGGTCCTGAAGGAAGCTGGAATGGCATGAGTTAGGTGGGGGGAATAGGTGGTGTGGCCCCTCAACCAGACAATTAGAATCAGCCTCCACCTTAACTGCCCACCCCCAGTGAGTTCTGCCTCAGCTTCTTGACTAACCCCTTGTAGGGGCAAAACTCCTGGAAGGGACAGCCCCACCCTGAGCCAGCTTCACTTGAGGGTATAGTAGTTTGTGGGCACAAAGGGCATCTTGCTGACTACAGCCATCTGCTGCTTCCGCCGCACCTCTACCAG... | CATGGACTGAAACAAGACATTGTGTGAGCTGGTCCGTCACTCAGAAGCAGGGTCCTGAAGGAAGCTGGAATGGCATGAGTTAGGTGGGGGGAATAGGTGGTGTGGCCCCTCAACCAGACAATTAGAATCAGCCTCCACCTTAACTGCCCACCCCCAGTGAGTTCTGCCTCAGCTTCTTGACTAACCCCTTGTAGGGGCAAAACTCCTGGAAGGGACAGCCCCACCCTGAGCCAGCTTCACTTGAGGGTATAGTAGTTTGTGGGCACAAAGGGCATCTTGCTGACTACAGCCATCTGCTGCTTCCGCCGCACCTCTACCAG... | pathogenic | 68,624 |
Variant on chromosome 3, at position 49420203, affecting AMT (aminomethyltransferase): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Glycine_encephalopathy'] | CATGCTGCCCACCTGCCGAGCGTCTTCAGTTTCTTTTTTTTTTTTTTGAGATGGAGTCACTCTGTCGCCCAGGCCTAGAATGCAGTGGCACGATCTCAGCTCACTGCAAACTCTGCCTCCCAGGTTCAAGCAATTTACCTGCCTCAGTCTCCCGAGTAGCTGGGATAACAGGCACCCGCCACCACGCCTGGCTAATTTTTATATTTTCAGTAGAGACGGGGTCTCACCATGTTGGCCAGGCTATTCTCGAATTCCTGACCTCATGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGC... | CATGCTGCCCACCTGCCGAGCGTCTTCAGTTTCTTTTTTTTTTTTTTGAGATGGAGTCACTCTGTCGCCCAGGCCTAGAATGCAGTGGCACGATCTCAGCTCACTGCAAACTCTGCCTCCCAGGTTCAAGCAATTTACCTGCCTCAGTCTCCCGAGTAGCTGGGATAACAGGCACCCGCCACCACGCCTGGCTAATTTTTATATTTTCAGTAGAGACGGGGTCTCACCATGTTGGCCAGGCTATTCTCGAATTCCTGACCTCATGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGC... | pathogenic | 68,629 |
For chromosome 3, position 49420215, gene AMT (aminomethyltransferase): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Glycine_encephalopathy', 'Glycine_encephalopathy_1', 'Glycine_encephalopathy_2', 'Neurodevelopmental_delay'] | CTGCCGAGCGTCTTCAGTTTCTTTTTTTTTTTTTTGAGATGGAGTCACTCTGTCGCCCAGGCCTAGAATGCAGTGGCACGATCTCAGCTCACTGCAAACTCTGCCTCCCAGGTTCAAGCAATTTACCTGCCTCAGTCTCCCGAGTAGCTGGGATAACAGGCACCCGCCACCACGCCTGGCTAATTTTTATATTTTCAGTAGAGACGGGGTCTCACCATGTTGGCCAGGCTATTCTCGAATTCCTGACCTCATGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCCGGCAGCATCT... | CTGCCGAGCGTCTTCAGTTTCTTTTTTTTTTTTTTGAGATGGAGTCACTCTGTCGCCCAGGCCTAGAATGCAGTGGCACGATCTCAGCTCACTGCAAACTCTGCCTCCCAGGTTCAAGCAATTTACCTGCCTCAGTCTCCCGAGTAGCTGGGATAACAGGCACCCGCCACCACGCCTGGCTAATTTTTATATTTTCAGTAGAGACGGGGTCTCACCATGTTGGCCAGGCTATTCTCGAATTCCTGACCTCATGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCCGGCAGCATCT... | pathogenic | 68,631 |
Located at chromosome 3 position 49421565, the variant affecting gene AMT (aminomethyltransferase)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Glycine_encephalopathy', 'Glycine_encephalopathy_1'] | TGGGAGAAGATGCCCTTGTCCCTAGCCCATGGAGCCTTGTGGTAGGTAGGAGGAGGGCAAGATACAAAACTTAAAATTATGGCACACAAATATCACACCTTCCACACATTCTTCTTGGTATGGCCTCTGTGCTAAGCAGTCAATGAAGCCAGGAAGGCAAAGGTTGGCTCCAACCCCAGCCCAGCCCTCTCACCTTGCAGAGCTAGCAGGGCATTATCCAACACCTCCAGGCCCACATCTCTGCCCTGGTTCTGAAGCTCCCTGACCTTGTCCTAAAAGACAGAAACACAAGAGCATCTGGGGCCACTTACTGAGCAGCT... | TGGGAGAAGATGCCCTTGTCCCTAGCCCATGGAGCCTTGTGGTAGGTAGGAGGAGGGCAAGATACAAAACTTAAAATTATGGCACACAAATATCACACCTTCCACACATTCTTCTTGGTATGGCCTCTGTGCTAAGCAGTCAATGAAGCCAGGAAGGCAAAGGTTGGCTCCAACCCCAGCCCAGCCCTCTCACCTTGCAGAGCTAGCAGGGCATTATCCAACACCTCCAGGCCCACATCTCTGCCCTGGTTCTGAAGCTCCCTGACCTTGTCCTAAAAGACAGAAACACAAGAGCATCTGGGGCCACTTACTGAGCAGCT... | pathogenic | 68,639 |
Variant chromosome 3, position 49422110, gene AMT (aminomethyltransferase): benign or pathogenic? Disease(s)? | pathogenic; ['Glycine_encephalopathy', 'Glycine_encephalopathy_2'] | AGAGGGCCTGCTCTTGAGTCTCATAGCTGTTCATTCACTGAAAGAGCCATTTTCCAGGTCCCTTGTCTGTGCCAACCCTGTCTTGGACAACAAGGATACTGCTCTATGAACAAGGAAGACAAGGTGTCTAGAACACAGAGGGGGTATACCTGCATGAGGGCCAAATCTTTCTCCCAGCAGCCAGCGTTGGACACCACATACAGGTGGCCCTCAGAAGTATTGGTTACAATCAAGTCATCTAAGATGCCTCCAGCCTCGTTGGTAAACAGCGACAGTGTCCCCTAGGACCAAAGTGGAGCGTTTTGGCTTCCAGGTCCAGG... | AGAGGGCCTGCTCTTGAGTCTCATAGCTGTTCATTCACTGAAAGAGCCATTTTCCAGGTCCCTTGTCTGTGCCAACCCTGTCTTGGACAACAAGGATACTGCTCTATGAACAAGGAAGACAAGGTGTCTAGAACACAGAGGGGGTATACCTGCATGAGGGCCAAATCTTTCTCCCAGCAGCCAGCGTTGGACACCACATACAGGTGGCCCTCAGAAGTATTGGTTACAATCAAGTCATCTAAGATGCCTCCAGCCTCGTTGGTAAACAGCGACAGTGTCCCCTAGGACCAAAGTGGAGCGTTTTGGCTTCCAGGTCCAGG... | pathogenic | 68,644 |
The mutation in gene AMT (aminomethyltransferase) at chromosome 3, position 49422137—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Glycine_encephalopathy', 'Glycine_encephalopathy_2'] | TGTTCATTCACTGAAAGAGCCATTTTCCAGGTCCCTTGTCTGTGCCAACCCTGTCTTGGACAACAAGGATACTGCTCTATGAACAAGGAAGACAAGGTGTCTAGAACACAGAGGGGGTATACCTGCATGAGGGCCAAATCTTTCTCCCAGCAGCCAGCGTTGGACACCACATACAGGTGGCCCTCAGAAGTATTGGTTACAATCAAGTCATCTAAGATGCCTCCAGCCTCGTTGGTAAACAGCGACAGTGTCCCCTAGGACCAAAGTGGAGCGTTTTGGCTTCCAGGTCCAGGAGGGCAAGGCCAAGGGTGAGCCAGACA... | TGTTCATTCACTGAAAGAGCCATTTTCCAGGTCCCTTGTCTGTGCCAACCCTGTCTTGGACAACAAGGATACTGCTCTATGAACAAGGAAGACAAGGTGTCTAGAACACAGAGGGGGTATACCTGCATGAGGGCCAAATCTTTCTCCCAGCAGCCAGCGTTGGACACCACATACAGGTGGCCCTCAGAAGTATTGGTTACAATCAAGTCATCTAAGATGCCTCCAGCCTCGTTGGTAAACAGCGACAGTGTCCCCTAGGACCAAAGTGGAGCGTTTTGGCTTCCAGGTCCAGGAGGGCAAGGCCAAGGGTGAGCCAGACA... | pathogenic | 68,647 |
Benign or pathogenic: chromosome 3, position 49422190, gene AMT (aminomethyltransferase) variant? Disease(s) if pathogenic? | pathogenic; ['Glycine_encephalopathy', 'Glycine_encephalopathy_2'] | TCTTGGACAACAAGGATACTGCTCTATGAACAAGGAAGACAAGGTGTCTAGAACACAGAGGGGGTATACCTGCATGAGGGCCAAATCTTTCTCCCAGCAGCCAGCGTTGGACACCACATACAGGTGGCCCTCAGAAGTATTGGTTACAATCAAGTCATCTAAGATGCCTCCAGCCTCGTTGGTAAACAGCGACAGTGTCCCCTAGGACCAAAGTGGAGCGTTTTGGCTTCCAGGTCCAGGAGGGCAAGGCCAAGGGTGAGCCAGACACAACCCTGGACCCACTTAGTTACCAAAAGGTTATGAACCCTAATGTGAAGGAC... | TCTTGGACAACAAGGATACTGCTCTATGAACAAGGAAGACAAGGTGTCTAGAACACAGAGGGGGTATACCTGCATGAGGGCCAAATCTTTCTCCCAGCAGCCAGCGTTGGACACCACATACAGGTGGCCCTCAGAAGTATTGGTTACAATCAAGTCATCTAAGATGCCTCCAGCCTCGTTGGTAAACAGCGACAGTGTCCCCTAGGACCAAAGTGGAGCGTTTTGGCTTCCAGGTCCAGGAGGGCAAGGCCAAGGGTGAGCCAGACACAACCCTGGACCCACTTAGTTACCAAAAGGTTATGAACCCTAATGTGAAGGAC... | pathogenic | 68,649 |
Is the genetic variant on chromosome 3, position 49422196, gene AMT (aminomethyltransferase), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Glycine_encephalopathy', 'Glycine_encephalopathy_1'] | ACAACAAGGATACTGCTCTATGAACAAGGAAGACAAGGTGTCTAGAACACAGAGGGGGTATACCTGCATGAGGGCCAAATCTTTCTCCCAGCAGCCAGCGTTGGACACCACATACAGGTGGCCCTCAGAAGTATTGGTTACAATCAAGTCATCTAAGATGCCTCCAGCCTCGTTGGTAAACAGCGACAGTGTCCCCTAGGACCAAAGTGGAGCGTTTTGGCTTCCAGGTCCAGGAGGGCAAGGCCAAGGGTGAGCCAGACACAACCCTGGACCCACTTAGTTACCAAAAGGTTATGAACCCTAATGTGAAGGACTCAGGG... | ACAACAAGGATACTGCTCTATGAACAAGGAAGACAAGGTGTCTAGAACACAGAGGGGGTATACCTGCATGAGGGCCAAATCTTTCTCCCAGCAGCCAGCGTTGGACACCACATACAGGTGGCCCTCAGAAGTATTGGTTACAATCAAGTCATCTAAGATGCCTCCAGCCTCGTTGGTAAACAGCGACAGTGTCCCCTAGGACCAAAGTGGAGCGTTTTGGCTTCCAGGTCCAGGAGGGCAAGGCCAAGGGTGAGCCAGACACAACCCTGGACCCACTTAGTTACCAAAAGGTTATGAACCCTAATGTGAAGGACTCAGGG... | pathogenic | 68,650 |
Does the variant on chromosome 3 at location 49422213 affecting gene AMT (aminomethyltransferase) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Glycine_encephalopathy'] | CTATGAACAAGGAAGACAAGGTGTCTAGAACACAGAGGGGGTATACCTGCATGAGGGCCAAATCTTTCTCCCAGCAGCCAGCGTTGGACACCACATACAGGTGGCCCTCAGAAGTATTGGTTACAATCAAGTCATCTAAGATGCCTCCAGCCTCGTTGGTAAACAGCGACAGTGTCCCCTAGGACCAAAGTGGAGCGTTTTGGCTTCCAGGTCCAGGAGGGCAAGGCCAAGGGTGAGCCAGACACAACCCTGGACCCACTTAGTTACCAAAAGGTTATGAACCCTAATGTGAAGGACTCAGGGTGTGCAAGGTACAAGTC... | CTATGAACAAGGAAGACAAGGTGTCTAGAACACAGAGGGGGTATACCTGCATGAGGGCCAAATCTTTCTCCCAGCAGCCAGCGTTGGACACCACATACAGGTGGCCCTCAGAAGTATTGGTTACAATCAAGTCATCTAAGATGCCTCCAGCCTCGTTGGTAAACAGCGACAGTGTCCCCTAGGACCAAAGTGGAGCGTTTTGGCTTCCAGGTCCAGGAGGGCAAGGCCAAGGGTGAGCCAGACACAACCCTGGACCCACTTAGTTACCAAAAGGTTATGAACCCTAATGTGAAGGACTCAGGGTGTGCAAGGTACAAGTC... | pathogenic | 68,651 |
Is chromosome 3, position 49422432, gene AMT variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Glycine_encephalopathy'] | GGCAAGGCCAAGGGTGAGCCAGACACAACCCTGGACCCACTTAGTTACCAAAAGGTTATGAACCCTAATGTGAAGGACTCAGGGTGTGCAAGGTACAAGTCTGGGCCCAAGTCCAAGGTCTTTGATCCTCATGCATCAAGTAAGTTTTCATCCCCTCCCTACCTTGGGGTGCTTCCCTGATCTGGTGCAACCTCTGCACCCCTCCCCACTCTGTACTGAGAGTCCCATCTGACACTTAATCTATGACACCTAGGACCTGCTGCTTCACCTACCCAAACCTGGGACGACTTAGCCCATGTGGCAACCCACAGGACAAAAGC... | GGCAAGGCCAAGGGTGAGCCAGACACAACCCTGGACCCACTTAGTTACCAAAAGGTTATGAACCCTAATGTGAAGGACTCAGGGTGTGCAAGGTACAAGTCTGGGCCCAAGTCCAAGGTCTTTGATCCTCATGCATCAAGTAAGTTTTCATCCCCTCCCTACCTTGGGGTGCTTCCCTGATCTGGTGCAACCTCTGCACCCCTCCCCACTCTGTACTGAGAGTCCCATCTGACACTTAATCTATGACACCTAGGACCTGCTGCTTCACCTACCCAAACCTGGGACGACTTAGCCCATGTGGCAACCCACAGGACAAAAGC... | pathogenic | 68,655 |
Clinical impact (benign or pathogenic) of the variant at chromosome 3, location 49422434, gene AMT: what disease(s) if pathogenic? | pathogenic; ['Glycine_encephalopathy'] | CAAGGCCAAGGGTGAGCCAGACACAACCCTGGACCCACTTAGTTACCAAAAGGTTATGAACCCTAATGTGAAGGACTCAGGGTGTGCAAGGTACAAGTCTGGGCCCAAGTCCAAGGTCTTTGATCCTCATGCATCAAGTAAGTTTTCATCCCCTCCCTACCTTGGGGTGCTTCCCTGATCTGGTGCAACCTCTGCACCCCTCCCCACTCTGTACTGAGAGTCCCATCTGACACTTAATCTATGACACCTAGGACCTGCTGCTTCACCTACCCAAACCTGGGACGACTTAGCCCATGTGGCAACCCACAGGACAAAAGCTT... | CAAGGCCAAGGGTGAGCCAGACACAACCCTGGACCCACTTAGTTACCAAAAGGTTATGAACCCTAATGTGAAGGACTCAGGGTGTGCAAGGTACAAGTCTGGGCCCAAGTCCAAGGTCTTTGATCCTCATGCATCAAGTAAGTTTTCATCCCCTCCCTACCTTGGGGTGCTTCCCTGATCTGGTGCAACCTCTGCACCCCTCCCCACTCTGTACTGAGAGTCCCATCTGACACTTAATCTATGACACCTAGGACCTGCTGCTTCACCTACCCAAACCTGGGACGACTTAGCCCATGTGGCAACCCACAGGACAAAAGCTT... | pathogenic | 68,656 |
A mutation at chromosome position 49422436 on chromosome 3 in gene AMT: benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Glycine_encephalopathy', 'Glycine_encephalopathy_1', 'Glycine_encephalopathy_2'] | AGGCCAAGGGTGAGCCAGACACAACCCTGGACCCACTTAGTTACCAAAAGGTTATGAACCCTAATGTGAAGGACTCAGGGTGTGCAAGGTACAAGTCTGGGCCCAAGTCCAAGGTCTTTGATCCTCATGCATCAAGTAAGTTTTCATCCCCTCCCTACCTTGGGGTGCTTCCCTGATCTGGTGCAACCTCTGCACCCCTCCCCACTCTGTACTGAGAGTCCCATCTGACACTTAATCTATGACACCTAGGACCTGCTGCTTCACCTACCCAAACCTGGGACGACTTAGCCCATGTGGCAACCCACAGGACAAAAGCTTCA... | AGGCCAAGGGTGAGCCAGACACAACCCTGGACCCACTTAGTTACCAAAAGGTTATGAACCCTAATGTGAAGGACTCAGGGTGTGCAAGGTACAAGTCTGGGCCCAAGTCCAAGGTCTTTGATCCTCATGCATCAAGTAAGTTTTCATCCCCTCCCTACCTTGGGGTGCTTCCCTGATCTGGTGCAACCTCTGCACCCCTCCCCACTCTGTACTGAGAGTCCCATCTGACACTTAATCTATGACACCTAGGACCTGCTGCTTCACCTACCCAAACCTGGGACGACTTAGCCCATGTGGCAACCCACAGGACAAAAGCTTCA... | pathogenic | 68,657 |
Does the variant on chromosome 3 at location 49530786 affecting gene DAG1 (dystroglycan 1) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | benign | GCACATCTTAGAGTTGATGCAATGTGGTATCACAAAAGAAACACTATTTGCTAACCCTTAATGAGTGGCTCAGAGAGCAATTAGGAAATGATAACCCTGATAATAATAACGCCTTTTTTTTTTTTTTTTCTGAGATGGAGTCTCACTCTGTCACCCAGGCTGGGTTGCAGTGGCGTGATCTCAGTTCACTGCAACCTCCGCTTCCCAGGTTCAAGCAATTCTTATGCCTTAGCCTCCTGAGTAGCTGGGACTACAGGTGCCTGCCACCACATCCGACTAATTTTTGTACTTTTAGTAGAGATGGGGTTTCGCCGTGTTGG... | GCACATCTTAGAGTTGATGCAATGTGGTATCACAAAAGAAACACTATTTGCTAACCCTTAATGAGTGGCTCAGAGAGCAATTAGGAAATGATAACCCTGATAATAATAACGCCTTTTTTTTTTTTTTTTCTGAGATGGAGTCTCACTCTGTCACCCAGGCTGGGTTGCAGTGGCGTGATCTCAGTTCACTGCAACCTCCGCTTCCCAGGTTCAAGCAATTCTTATGCCTTAGCCTCCTGAGTAGCTGGGACTACAGGTGCCTGCCACCACATCCGACTAATTTTTGTACTTTTAGTAGAGATGGGGTTTCGCCGTGTTGG... | benign | 68,675 |
Does the genetic variant at chromosome 3, position 49722697, impacting gene GMPPB (GDP-mannose pyrophosphorylase B), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Abnormality_of_the_musculature', 'Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2T', 'Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies),_type_A14', 'Muscular_dystrophy-dystroglycanopathy_(congenital_with_intellectual_disability),_type_B14'] | GAGCTGTGAGTGGGCTGGTGGGGCAGGTCAGGGAAATCTGGGGCTGGGTCGGGTCAGGAGCCTTAAGAACAGCAAAGTCCTAGGCTGGGAATATTCAAGAGGCATCACATCCTCAGCTACCTCTGACTTGACACTACCTACCACTCCCCAGATGCGGATTATATCAGTGCCGATGAGCTGGCCCAAGTGGAACAGATGCTGGCGCACCTGACCTCTGCATCTGCCCAGGCAGCAGCTGCCTCCCTGGTGAGTGGGAACACGGTGCACAGGTCCATGCCACTTGAATATGTGTGCACTCCTACACAGGCACAACGGACATC... | GAGCTGTGAGTGGGCTGGTGGGGCAGGTCAGGGAAATCTGGGGCTGGGTCGGGTCAGGAGCCTTAAGAACAGCAAAGTCCTAGGCTGGGAATATTCAAGAGGCATCACATCCTCAGCTACCTCTGACTTGACACTACCTACCACTCCCCAGATGCGGATTATATCAGTGCCGATGAGCTGGCCCAAGTGGAACAGATGCTGGCGCACCTGACCTCTGCATCTGCCCAGGCAGCAGCTGCCTCCCTGGTGAGTGGGAACACGGTGCACAGGTCCATGCCACTTGAATATGTGTGCACTCCTACACAGGCACAACGGACATC... | pathogenic | 68,735 |
Mutation found at chromosome 3 position 49723316, gene GMPPB: benign or pathogenic? If pathogenic, indicate the relevant disease(s). | benign | AGGGAGCCAATACGAGTACTACCTCCTCAGCTGCCTAGCCCTCACAGCCTGTGCCATCCTGGAACCTCCACCTTTGAACCCAGAGCCAGGCTGGGCCCTATTTATGAGCTCCCTTTGCCCTTCTCCTGTATCCCACACCACCACATCCAACCTCCTTGCCTGCCTGTATCCTCATTGGTGGGAGCCCAGCCATGGCCCTAATTGTGCCTGAGCTTGACTTTCAGTCAGGGCCACAGTGAGCATTAAATTATTATTCCATACAGCCCTGGCCCTGGCCCTTCTTGAGGGAGTGGGGTTTGTGGGGTGTGCCCAGCAGGGAT... | AGGGAGCCAATACGAGTACTACCTCCTCAGCTGCCTAGCCCTCACAGCCTGTGCCATCCTGGAACCTCCACCTTTGAACCCAGAGCCAGGCTGGGCCCTATTTATGAGCTCCCTTTGCCCTTCTCCTGTATCCCACACCACCACATCCAACCTCCTTGCCTGCCTGTATCCTCATTGGTGGGAGCCCAGCCATGGCCCTAATTGTGCCTGAGCTTGACTTTCAGTCAGGGCCACAGTGAGCATTAAATTATTATTCCATACAGCCCTGGCCCTGGCCCTTCTTGAGGGAGTGGGGTTTGTGGGGTGTGCCCAGCAGGGAT... | benign | 68,741 |
Evaluate this variant at chromosome 3, position 50193396, gene GNAT1 (G protein subunit alpha transducin 1): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Retinal_dystrophy'] | TTTCTCAGCCCTGACCCTACTGAACATGTCTCCCCACTCCCAGGCAGTGCCAGGGCCTCTCCTGGAGGGTTGCGGGGACAGAAGGACAGCCGGAGTGCAGAGTCAGCGGTTGAGGGATTGGGGCTATGCCAGCCCGATTAGAAGGGTTGGGGGGGCTGAGCTGGATTCACCTGTCCTTGTCTCTGATTGGCTCTTGGACACCCCTAGCCCCCAAATCCCACTAAGCAGCCCCACCAGGGATTGCACAGGTCCGTAGAGAGCCAGTTGATTGCAGGTCCTCCTGGGGCCAGAAGGGTGCCTGGGAGGCCAGGTTCTGGGGA... | TTTCTCAGCCCTGACCCTACTGAACATGTCTCCCCACTCCCAGGCAGTGCCAGGGCCTCTCCTGGAGGGTTGCGGGGACAGAAGGACAGCCGGAGTGCAGAGTCAGCGGTTGAGGGATTGGGGCTATGCCAGCCCGATTAGAAGGGTTGGGGGGGCTGAGCTGGATTCACCTGTCCTTGTCTCTGATTGGCTCTTGGACACCCCTAGCCCCCAAATCCCACTAAGCAGCCCCACCAGGGATTGCACAGGTCCGTAGAGAGCCAGTTGATTGCAGGTCCTCCTGGGGCCAGAAGGGTGCCTGGGAGGCCAGGTTCTGGGGA... | pathogenic | 68,786 |
The chromosome 3, position 50345137 genetic variant in gene ZMYND10 (zinc finger MYND-type containing 10): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Primary_ciliary_dyskinesia', 'Primary_ciliary_dyskinesia_22'] | GTAGGCCCAGGCCCAGTCGGACTGCTCACCTGTCCACACAGTCTGTGATGTAGCGTAGTACTGAGAGGGCCTTCAGTGCAATCTCAAATTCCATCAGCTCTGCCTGCTTCTGCAGCTCCTGGGAGGTCACACAGTGTTCACGCTGGGCCACCCTCACCTGCGCAGGCCTTGGGGAACCCAGACCTAGGCTTTCACAACCCTAGGTAACCTCAACCCACCTGCATGGGGTTGCTGTCCTGGGATCCCTCCCCCTCAGGGGGGCCACCACAGCCACTCTGGGCCACCAGCAGGGTCAGTTTGCGGTGGCAATAGTCTACCAA... | GTAGGCCCAGGCCCAGTCGGACTGCTCACCTGTCCACACAGTCTGTGATGTAGCGTAGTACTGAGAGGGCCTTCAGTGCAATCTCAAATTCCATCAGCTCTGCCTGCTTCTGCAGCTCCTGGGAGGTCACACAGTGTTCACGCTGGGCCACCCTCACCTGCGCAGGCCTTGGGGAACCCAGACCTAGGCTTTCACAACCCTAGGTAACCTCAACCCACCTGCATGGGGTTGCTGTCCTGGGATCCCTCCCCCTCAGGGGGGCCACCACAGCCACTCTGGGCCACCAGCAGGGTCAGTTTGCGGTGGCAATAGTCTACCAA... | pathogenic | 68,841 |
Does the variant on chromosome 3 at location 50347546 affecting gene NPRL2 (NPR2 like, GATOR1 complex subunit) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | benign | CCATCTCGCGTAGCGGGAAGCTGCGCAGACCCCGCACCAGCACTTCAGCTTCCCCGGGCAGCAGCAGTTCCAGGTCTCCCATATCGAGGCCGGGGTCCGGCGGATCCTGGGCAGCAGCCGGGGTGGGGATGCTGTCACATTCGGGGACGACGGACCCCGACGGTGCCAAAGTCTGGGACAGGACAGTTGCGGGACGGTTGGGGAGCGTCAGTTCTCGCAGCCATGGAAACGGGTTAGCCGCGCCTGCGCAGTGCGGCCTGGGCCCCGCCCCTGGAGGTGGCTCGCGCCTAAATCCGGGCGGGTCTCTAGCCCGCCTCGCC... | CCATCTCGCGTAGCGGGAAGCTGCGCAGACCCCGCACCAGCACTTCAGCTTCCCCGGGCAGCAGCAGTTCCAGGTCTCCCATATCGAGGCCGGGGTCCGGCGGATCCTGGGCAGCAGCCGGGGTGGGGATGCTGTCACATTCGGGGACGACGGACCCCGACGGTGCCAAAGTCTGGGACAGGACAGTTGCGGGACGGTTGGGGAGCGTCAGTTCTCGCAGCCATGGAAACGGGTTAGCCGCGCCTGCGCAGTGCGGCCTGGGCCCCGCCCCTGGAGGTGGCTCGCGCCTAAATCCGGGCGGGTCTCTAGCCCGCCTCGCC... | benign | 68,844 |
A genetic variant on chromosome 3, position 50350595, affects the gene NPRL2 (NPR2 like, GATOR1 complex subunit). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Epilepsy,_familial_focal,_with_variable_foci_2'] | TCACAACGCCGTAGTACCTGAGAGAGAGAGCTGTGCTCAGCTTCTGAGGACCATGCCTTCCCAACCCTCACACCCAGGGCCCCTGAGGTCTTCCCTGGCTGGTGACCTTGTCCCAGGTATGACTGTAGGCCCACTCACAGCAGGTTCTGGATAGCAATGCGCACCAGGTTGAGCTCCACATCTGCCTCTGCTGAAATCTTCTGGATGTGGCGGAACCCATCAATGTAGGGCAGGATCTGGGCAGAGTGGGACAAGGTCAGAAGAAACAGGATGAGGCCAGGGCTGTGGCCAGCCCCAGGTGATGATACCCAGGGAGGGAT... | TCACAACGCCGTAGTACCTGAGAGAGAGAGCTGTGCTCAGCTTCTGAGGACCATGCCTTCCCAACCCTCACACCCAGGGCCCCTGAGGTCTTCCCTGGCTGGTGACCTTGTCCCAGGTATGACTGTAGGCCCACTCACAGCAGGTTCTGGATAGCAATGCGCACCAGGTTGAGCTCCACATCTGCCTCTGCTGAAATCTTCTGGATGTGGCGGAACCCATCAATGTAGGGCAGGATCTGGGCAGAGTGGGACAAGGTCAGAAGAAACAGGATGAGGCCAGGGCTGTGGCCAGCCCCAGGTGATGATACCCAGGGAGGGAT... | pathogenic | 68,851 |
Clinical classification of chromosome 3, position 50375941, gene CACNA2D2 (calcium voltage-gated channel auxiliary subunit alpha2delta 2): benign or pathogenic? Disease(s) if pathogenic? | benign | ATGGGAAGGGGGCACCACAGGGGTAGAGAGCTGAACAGGAAGAGAGAGGAAAGAGGGGAGGGGAGGGAGAAAGAGGGGAGGGGAAGGGAAAAGGGGGGAGGGGAGGGGGGAGGAGGGGAGGGGAAGGACTGGAGGGAGAGGAGGGGAGGGGAAAGAGGGGGAGGAGAAGGGGAGGAAGGGAGAGGGAGGAGGGGAGGGGGAGGAGGAGAGGGGAGGTGGGATTGGGGAGGAGGTAAGGGGAAGGAGGAAGGAATTGAAGGGAGGGGGAATAGGTGAAGGGAAGGGAGAGGAGGTGGAGGGAGGAAAGGGGAGGGGGGAAG... | ATGGGAAGGGGGCACCACAGGGGTAGAGAGCTGAACAGGAAGAGAGAGGAAAGAGGGGAGGGGAGGGAGAAAGAGGGGAGGGGAAGGGAAAAGGGGGGAGGGGAGGGGGGAGGAGGGGAGGGGAAGGACTGGAGGGAGAGGAGGGGAGGGGAAAGAGGGGGAGGAGAAGGGGAGGAAGGGAGAGGGAGGAGGGGAGGGGGAGGAGGAGAGGGGAGGTGGGATTGGGGAGGAGGTAAGGGGAAGGAGGAAGGAATTGAAGGGAGGGGGAATAGGTGAAGGGAAGGGAGAGGAGGTGGAGGGAGGAAAGGGGAGGGGGGAAG... | benign | 68,872 |
Is the genetic mutation found on chromosome 3 at position 51986652, within the gene ACY1, considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['ACY1-related_disorder', 'Aminoacylase_1_deficiency'] | CAGGAGTTCAAGACTAGCTTGAGCAACATGGCAAGACTCTGTCTCTACAGAAAAAATACAAAAATTAGTCAGGAATGGTGGCACACCTGTAGTCCCAGCTACTCCAGAGGTTGAGGTGGGAGGATCGCTTGAGCCTGGGAGGTTGAGGCTGCAGTGAGCCGAGATCGCACCACTTCACTCCTGCCTTGGTGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAGGAAAAGAAAAAAAAAAAACTTAGTGGCTGGGAATTGTGTACATGGGTCCAAATTCCTCCTCTGTGATTAATCAGCTGAGAGATGGTGGG... | CAGGAGTTCAAGACTAGCTTGAGCAACATGGCAAGACTCTGTCTCTACAGAAAAAATACAAAAATTAGTCAGGAATGGTGGCACACCTGTAGTCCCAGCTACTCCAGAGGTTGAGGTGGGAGGATCGCTTGAGCCTGGGAGGTTGAGGCTGCAGTGAGCCGAGATCGCACCACTTCACTCCTGCCTTGGTGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAGGAAAAGAAAAAAAAAAAACTTAGTGGCTGGGAATTGTGTACATGGGTCCAAATTCCTCCTCTGTGATTAATCAGCTGAGAGATGGTGGG... | pathogenic | 68,921 |
For chromosome 3, position 52346755, gene DNAH1 (dynein axonemal heavy chain 1): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Ciliary_dyskinesia,_primary,_37', 'Spermatogenic_failure_18'] | CACCTTCCCCTCCAGGATTGTCTGCCCTGCCATTGTGGGCGTCATCAGCCCAACACTCCCTGCACCTCCCCTGTCTCCAGCACTTGTCCCACTTCTCCCTGCTGCCTGGAGGGCTCTGGACCAGGGGAAGGGAAGAAGGCTCTTTTTGAACTTATTAGTGAGAATAGCACAGAAGTTGCAAGGTGAATGTGTACTAGGAAACAATGCTTCAGCAGTAGGTGGAAGGGGCTCTGCTGATCAGACCTAGAGGATAGTCCTTCTTCCTCCAGTAGCAAGAGAGGAGACCGAGTCTCAGAGCAGGACCCCGGGGCCCAAGAACC... | CACCTTCCCCTCCAGGATTGTCTGCCCTGCCATTGTGGGCGTCATCAGCCCAACACTCCCTGCACCTCCCCTGTCTCCAGCACTTGTCCCACTTCTCCCTGCTGCCTGGAGGGCTCTGGACCAGGGGAAGGGAAGAAGGCTCTTTTTGAACTTATTAGTGAGAATAGCACAGAAGTTGCAAGGTGAATGTGTACTAGGAAACAATGCTTCAGCAGTAGGTGGAAGGGGCTCTGCTGATCAGACCTAGAGGATAGTCCTTCTTCCTCCAGTAGCAAGAGAGGAGACCGAGTCTCAGAGCAGGACCCCGGGGCCCAAGAACC... | pathogenic | 68,993 |
Variant at chromosome 3, position 52371934, gene DNAH1 (dynein axonemal heavy chain 1): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | benign | GCTGTGGCATGGTGTACCTGGAGCCCAGCATCCTGGGGCTCATGCCCTTCATCGAGTGCTGGCTGAGGAAGCTGCCTCCCTTGCTGAAGCCCTATGAGGAGCATTTCAAGGCCCTCTTTGTCAGCTTCCTGGAGGTGAGTGAGGCCACGGGTATGTCTGACCCTGGCAGGGCAGCAGGGCACTGTGGCTGCCAGCCATGAGAACTGGGTGCCTACTCCCTGCAGGAATCCATCTCCTTCGTTCGGTCCTCAGTGAAGGAGGTGATCGCCTCAACCAACTGCAACCTGACCATGAGCCTCCTCAAGCTGCTGGACTGCTTC... | GCTGTGGCATGGTGTACCTGGAGCCCAGCATCCTGGGGCTCATGCCCTTCATCGAGTGCTGGCTGAGGAAGCTGCCTCCCTTGCTGAAGCCCTATGAGGAGCATTTCAAGGCCCTCTTTGTCAGCTTCCTGGAGGTGAGTGAGGCCACGGGTATGTCTGACCCTGGCAGGGCAGCAGGGCACTGTGGCTGCCAGCCATGAGAACTGGGTGCCTACTCCCTGCAGGAATCCATCTCCTTCGTTCGGTCCTCAGTGAAGGAGGTGATCGCCTCAACCAACTGCAACCTGACCATGAGCCTCCTCAAGCTGCTGGACTGCTTC... | benign | 69,067 |
Does the variant impacting DNAH1 (dynein axonemal heavy chain 1) on chromosome 3, position 52372093, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | benign | ACCCTGGCAGGGCAGCAGGGCACTGTGGCTGCCAGCCATGAGAACTGGGTGCCTACTCCCTGCAGGAATCCATCTCCTTCGTTCGGTCCTCAGTGAAGGAGGTGATCGCCTCAACCAACTGCAACCTGACCATGAGCCTCCTCAAGCTGCTGGACTGCTTCTTCAAGCCCTTTCTGCCTAGAGAGGTACAGCCCTGAGAGTGGGGCTAGATGCACCTGGTCCCTCTCCCCACACTGCTCTCCTTGCTCTCTGGGGCCTGAAAGAGAGAATTGGATTGGTGCAACATGGTGCAACATGGACAAGACCACCTGTCCAATTGG... | ACCCTGGCAGGGCAGCAGGGCACTGTGGCTGCCAGCCATGAGAACTGGGTGCCTACTCCCTGCAGGAATCCATCTCCTTCGTTCGGTCCTCAGTGAAGGAGGTGATCGCCTCAACCAACTGCAACCTGACCATGAGCCTCCTCAAGCTGCTGGACTGCTTCTTCAAGCCCTTTCTGCCTAGAGAGGTACAGCCCTGAGAGTGGGGCTAGATGCACCTGGTCCCTCTCCCCACACTGCTCTCCTTGCTCTCTGGGGCCTGAAAGAGAGAATTGGATTGGTGCAACATGGTGCAACATGGACAAGACCACCTGTCCAATTGG... | benign | 69,070 |
Is the genetic variant on chromosome 3, position 52381706, gene DNAH1 (dynein axonemal heavy chain 1), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Ciliary_dyskinesia,_primary,_37', 'Spermatogenic_failure_18'] | TGGCCAGCTGGACTCGGAGCTGAGGCATGAGGAGGCCCAGGCAGCACTGTGCAATCCACCCCATCCTCAGCCAGCCAGCAGTTGCACTTGCCAGCAGCCCCCACACACTGTCCCTGGGCCATGGTGGGAGAGCCAGGCTCCAGTCAGGGCCCCAGGAACTGGGGCCCACCCTCCCTTGCCTGGTGGTTTGAGAGATAGCTGAGGGCTTGGGGGCCAAGGACAGGCACCGATGCTGGGGCTACTGCAGGACCAAGTGCAGCTGCTGCGACTGTGGTATCACGAGAACTGCCGCGTGTTCCGGGACCGACTGGTGAATGAGG... | TGGCCAGCTGGACTCGGAGCTGAGGCATGAGGAGGCCCAGGCAGCACTGTGCAATCCACCCCATCCTCAGCCAGCCAGCAGTTGCACTTGCCAGCAGCCCCCACACACTGTCCCTGGGCCATGGTGGGAGAGCCAGGCTCCAGTCAGGGCCCCAGGAACTGGGGCCCACCCTCCCTTGCCTGGTGGTTTGAGAGATAGCTGAGGGCTTGGGGGCCAAGGACAGGCACCGATGCTGGGGCTACTGCAGGACCAAGTGCAGCTGCTGCGACTGTGGTATCACGAGAACTGCCGCGTGTTCCGGGACCGACTGGTGAATGAGG... | pathogenic | 69,087 |
Is the genetic variant on chromosome 3, position 52393014, gene DNAH1 (dynein axonemal heavy chain 1), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Ciliary_dyskinesia,_primary,_37', 'Spermatogenic_failure_18'] | TGGAGAACGGGGTCATCAACCAGTTTTCCCAGCGCTGGACCCACTTCATTGACCCTCAGAGCCAGGCCAACAAATGGATCAAGAACATGGTGAGCCCACCCACCAGGCACCACCACCCCACCCCAGCCAGGCATAGCAAGGGCAGTGGTGAGCCGCAGAGCCTCAGGCTGGCTCTCAGTCCCTGCAACCCCTTCTTTTCCCCTTCCCTTACAGGAGAAGGACAATGGGCTGGATGTGTTCAAGTTGAGTGACCGCGACTTCCTGCGCAGCATGGAGAACGCCATCCGCTTTGGCAAGCCATGTCTCCTGGAGAACGTGGG... | TGGAGAACGGGGTCATCAACCAGTTTTCCCAGCGCTGGACCCACTTCATTGACCCTCAGAGCCAGGCCAACAAATGGATCAAGAACATGGTGAGCCCACCCACCAGGCACCACCACCCCACCCCAGCCAGGCATAGCAAGGGCAGTGGTGAGCCGCAGAGCCTCAGGCTGGCTCTCAGTCCCTGCAACCCCTTCTTTTCCCCTTCCCTTACAGGAGAAGGACAATGGGCTGGATGTGTTCAAGTTGAGTGACCGCGACTTCCTGCGCAGCATGGAGAACGCCATCCGCTTTGGCAAGCCATGTCTCCTGGAGAACGTGGG... | pathogenic | 69,120 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 3, position 52396924, gene DNAH1 (dynein axonemal heavy chain 1). What disease(s) is it linked to if pathogenic? | pathogenic; ['Ciliary_dyskinesia,_primary,_37', 'Primary_ciliary_dyskinesia', 'Spermatogenic_failure_18'] | ACAGGCTGGCTCTCAGGGAGGTGTGGGCCACTGTTGCAGGGAGCCTTTGCCTGGCATCTGGGACCAGTACCTAGACCAGTTCCAGAAGCTGCTAGTCCTCCGCTGCCTGCGTGGGGACAAGGTTACCAACGCCATGCAGGACTTTGTGGCCACCAACCTGGAGCCACGCTTCATTGAACCCCAGGCAAGTGCTGGAACCCTGGCAGGACTGGCACCTTGAGCTTGTCCCCACCCTGGGTCCCAGGGCCCTGGCTGCATCTGGATAGACTACTTGGCCAGGCCAGGACCCCTGCTTGCTCCCTAAAGGCTCTGAGGTTCCA... | ACAGGCTGGCTCTCAGGGAGGTGTGGGCCACTGTTGCAGGGAGCCTTTGCCTGGCATCTGGGACCAGTACCTAGACCAGTTCCAGAAGCTGCTAGTCCTCCGCTGCCTGCGTGGGGACAAGGTTACCAACGCCATGCAGGACTTTGTGGCCACCAACCTGGAGCCACGCTTCATTGAACCCCAGGCAAGTGCTGGAACCCTGGCAGGACTGGCACCTTGAGCTTGTCCCCACCCTGGGTCCCAGGGCCCTGGCTGCATCTGGATAGACTACTTGGCCAGGCCAGGACCCCTGCTTGCTCCCTAAAGGCTCTGAGGTTCCA... | pathogenic | 69,135 |
Mutation at chromosome 3, position 52396982, within DNAH1 (dynein axonemal heavy chain 1): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Ciliary_dyskinesia,_primary,_37', 'Primary_ciliary_dyskinesia', 'Spermatogenic_failure_18'] | TGGGACCAGTACCTAGACCAGTTCCAGAAGCTGCTAGTCCTCCGCTGCCTGCGTGGGGACAAGGTTACCAACGCCATGCAGGACTTTGTGGCCACCAACCTGGAGCCACGCTTCATTGAACCCCAGGCAAGTGCTGGAACCCTGGCAGGACTGGCACCTTGAGCTTGTCCCCACCCTGGGTCCCAGGGCCCTGGCTGCATCTGGATAGACTACTTGGCCAGGCCAGGACCCCTGCTTGCTCCCTAAAGGCTCTGAGGTTCCAGCCCCCACCAGGAAGCCCACTGGGGACCACTCTGAGAACCCCAGATCCCCCTCCCTTG... | TGGGACCAGTACCTAGACCAGTTCCAGAAGCTGCTAGTCCTCCGCTGCCTGCGTGGGGACAAGGTTACCAACGCCATGCAGGACTTTGTGGCCACCAACCTGGAGCCACGCTTCATTGAACCCCAGGCAAGTGCTGGAACCCTGGCAGGACTGGCACCTTGAGCTTGTCCCCACCCTGGGTCCCAGGGCCCTGGCTGCATCTGGATAGACTACTTGGCCAGGCCAGGACCCCTGCTTGCTCCCTAAAGGCTCTGAGGTTCCAGCCCCCACCAGGAAGCCCACTGGGGACCACTCTGAGAACCCCAGATCCCCCTCCCTTG... | pathogenic | 69,137 |
The genetic variant at chromosome 3, position 52398902, affecting gene DNAH1 (dynein axonemal heavy chain 1): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Ciliary_dyskinesia,_primary,_37', 'Primary_ciliary_dyskinesia', 'Spermatogenic_failure_18'] | CACCCACCCCATAGGTCCTCAAGTACACGGCAGGGGAGATCAATTACGGGGGCCGTGTCACTGATGACTGGGACCGGCGCTGCATCATGAACATCTTGGAGGACTTCTACAACCCTGACGTGCTCTCCCCTGAGCACAGCTACAGCGCCTCGGGCATCTACCACCAGATCCCGCCTACCTACGACCTCCACGTGAGTCCAGCCCAAAGGGCTGCACAGGAGGGGCCTGCCAGCCTGGGGTTCTGGGGTACCATGAGCACCTTGGTGCTGGGTGGGAGGAGATGCAGCCCCCACCCTCCATCAGCTGTCTTTTCATCAGTC... | CACCCACCCCATAGGTCCTCAAGTACACGGCAGGGGAGATCAATTACGGGGGCCGTGTCACTGATGACTGGGACCGGCGCTGCATCATGAACATCTTGGAGGACTTCTACAACCCTGACGTGCTCTCCCCTGAGCACAGCTACAGCGCCTCGGGCATCTACCACCAGATCCCGCCTACCTACGACCTCCACGTGAGTCCAGCCCAAAGGGCTGCACAGGAGGGGCCTGCCAGCCTGGGGTTCTGGGGTACCATGAGCACCTTGGTGCTGGGTGGGAGGAGATGCAGCCCCCACCCTCCATCAGCTGTCTTTTCATCAGTC... | pathogenic | 69,143 |
Is the variant located on chromosome 3 at position 52402645, gene BAP1 (BRCA1 associated deubiquitinase 1), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['BAP1-related_tumor_predisposition_syndrome'] | GAGGAGAGCGGGACAGAGGCGGCAGCTTTGACCTGCTTTACCTGTCCAAAAGCAACAAGGAAGAGATGCCCAGCGCCCTCCCAGGGAGAACACACCAGGCGAGATTAGATTAGAGGCAGCCCCGCCTCTTTGACCCACAGTCCCAGCACCTCTCCAGGCTGCAAAGCCACAGATTTGGTGAAAGCCATGGCCCTCTCCCCAGAAAGTGCACCCTGTCTACAGTCCACCTGAAGTCCCTCCTCAGCTCAGGTCCTAAATCCCAGGCCTAGGATTCCAAGGATCTCTGGCCCAAGACAGCTGGACACTCAAGGATCATATAC... | GAGGAGAGCGGGACAGAGGCGGCAGCTTTGACCTGCTTTACCTGTCCAAAAGCAACAAGGAAGAGATGCCCAGCGCCCTCCCAGGGAGAACACACCAGGCGAGATTAGATTAGAGGCAGCCCCGCCTCTTTGACCCACAGTCCCAGCACCTCTCCAGGCTGCAAAGCCACAGATTTGGTGAAAGCCATGGCCCTCTCCCCAGAAAGTGCACCCTGTCTACAGTCCACCTGAAGTCCCTCCTCAGCTCAGGTCCTAAATCCCAGGCCTAGGATTCCAAGGATCTCTGGCCCAAGACAGCTGGACACTCAAGGATCATATAC... | pathogenic | 69,212 |
Located at chromosome 3 position 52402658, the variant affecting gene BAP1 (BRCA1 associated deubiquitinase 1)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['BAP1-related_tumor_predisposition_syndrome'] | CAGAGGCGGCAGCTTTGACCTGCTTTACCTGTCCAAAAGCAACAAGGAAGAGATGCCCAGCGCCCTCCCAGGGAGAACACACCAGGCGAGATTAGATTAGAGGCAGCCCCGCCTCTTTGACCCACAGTCCCAGCACCTCTCCAGGCTGCAAAGCCACAGATTTGGTGAAAGCCATGGCCCTCTCCCCAGAAAGTGCACCCTGTCTACAGTCCACCTGAAGTCCCTCCTCAGCTCAGGTCCTAAATCCCAGGCCTAGGATTCCAAGGATCTCTGGCCCAAGACAGCTGGACACTCAAGGATCATATACTTCTTACCTTTCT... | CAGAGGCGGCAGCTTTGACCTGCTTTACCTGTCCAAAAGCAACAAGGAAGAGATGCCCAGCGCCCTCCCAGGGAGAACACACCAGGCGAGATTAGATTAGAGGCAGCCCCGCCTCTTTGACCCACAGTCCCAGCACCTCTCCAGGCTGCAAAGCCACAGATTTGGTGAAAGCCATGGCCCTCTCCCCAGAAAGTGCACCCTGTCTACAGTCCACCTGAAGTCCCTCCTCAGCTCAGGTCCTAAATCCCAGGCCTAGGATTCCAAGGATCTCTGGCCCAAGACAGCTGGACACTCAAGGATCATATACTTCTTACCTTTCT... | pathogenic | 69,213 |
Does the chromosome 3 mutation at position 52402683 within gene BAP1 (BRCA1 associated deubiquitinase 1) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | benign | TACCTGTCCAAAAGCAACAAGGAAGAGATGCCCAGCGCCCTCCCAGGGAGAACACACCAGGCGAGATTAGATTAGAGGCAGCCCCGCCTCTTTGACCCACAGTCCCAGCACCTCTCCAGGCTGCAAAGCCACAGATTTGGTGAAAGCCATGGCCCTCTCCCCAGAAAGTGCACCCTGTCTACAGTCCACCTGAAGTCCCTCCTCAGCTCAGGTCCTAAATCCCAGGCCTAGGATTCCAAGGATCTCTGGCCCAAGACAGCTGGACACTCAAGGATCATATACTTCTTACCTTTCTGGTCCCAGGGCCCTAGGCCCATGAG... | TACCTGTCCAAAAGCAACAAGGAAGAGATGCCCAGCGCCCTCCCAGGGAGAACACACCAGGCGAGATTAGATTAGAGGCAGCCCCGCCTCTTTGACCCACAGTCCCAGCACCTCTCCAGGCTGCAAAGCCACAGATTTGGTGAAAGCCATGGCCCTCTCCCCAGAAAGTGCACCCTGTCTACAGTCCACCTGAAGTCCCTCCTCAGCTCAGGTCCTAAATCCCAGGCCTAGGATTCCAAGGATCTCTGGCCCAAGACAGCTGGACACTCAAGGATCATATACTTCTTACCTTTCTGGTCCCAGGGCCCTAGGCCCATGAG... | benign | 69,220 |
Evaluate if the mutation on chromosome 3 at position 52402686 in BAP1 (BRCA1 associated deubiquitinase 1) is benign or pathogenic. Disease name(s) if pathogenic? | benign | CTGTCCAAAAGCAACAAGGAAGAGATGCCCAGCGCCCTCCCAGGGAGAACACACCAGGCGAGATTAGATTAGAGGCAGCCCCGCCTCTTTGACCCACAGTCCCAGCACCTCTCCAGGCTGCAAAGCCACAGATTTGGTGAAAGCCATGGCCCTCTCCCCAGAAAGTGCACCCTGTCTACAGTCCACCTGAAGTCCCTCCTCAGCTCAGGTCCTAAATCCCAGGCCTAGGATTCCAAGGATCTCTGGCCCAAGACAGCTGGACACTCAAGGATCATATACTTCTTACCTTTCTGGTCCCAGGGCCCTAGGCCCATGAGGTC... | CTGTCCAAAAGCAACAAGGAAGAGATGCCCAGCGCCCTCCCAGGGAGAACACACCAGGCGAGATTAGATTAGAGGCAGCCCCGCCTCTTTGACCCACAGTCCCAGCACCTCTCCAGGCTGCAAAGCCACAGATTTGGTGAAAGCCATGGCCCTCTCCCCAGAAAGTGCACCCTGTCTACAGTCCACCTGAAGTCCCTCCTCAGCTCAGGTCCTAAATCCCAGGCCTAGGATTCCAAGGATCTCTGGCCCAAGACAGCTGGACACTCAAGGATCATATACTTCTTACCTTTCTGGTCCCAGGGCCCTAGGCCCATGAGGTC... | benign | 69,222 |
Variant on chromosome 3, at position 52402693, affecting BAP1 (BRCA1 associated deubiquitinase 1): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | benign | AAAGCAACAAGGAAGAGATGCCCAGCGCCCTCCCAGGGAGAACACACCAGGCGAGATTAGATTAGAGGCAGCCCCGCCTCTTTGACCCACAGTCCCAGCACCTCTCCAGGCTGCAAAGCCACAGATTTGGTGAAAGCCATGGCCCTCTCCCCAGAAAGTGCACCCTGTCTACAGTCCACCTGAAGTCCCTCCTCAGCTCAGGTCCTAAATCCCAGGCCTAGGATTCCAAGGATCTCTGGCCCAAGACAGCTGGACACTCAAGGATCATATACTTCTTACCTTTCTGGTCCCAGGGCCCTAGGCCCATGAGGTCTAGTAAG... | AAAGCAACAAGGAAGAGATGCCCAGCGCCCTCCCAGGGAGAACACACCAGGCGAGATTAGATTAGAGGCAGCCCCGCCTCTTTGACCCACAGTCCCAGCACCTCTCCAGGCTGCAAAGCCACAGATTTGGTGAAAGCCATGGCCCTCTCCCCAGAAAGTGCACCCTGTCTACAGTCCACCTGAAGTCCCTCCTCAGCTCAGGTCCTAAATCCCAGGCCTAGGATTCCAAGGATCTCTGGCCCAAGACAGCTGGACACTCAAGGATCATATACTTCTTACCTTTCTGGTCCCAGGGCCCTAGGCCCATGAGGTCTAGTAAG... | benign | 69,227 |
Evaluate if the mutation on chromosome 3 at position 52402844 in BAP1 (BRCA1 associated deubiquitinase 1) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['BAP1-related_tumor_predisposition_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | CAGAAAGTGCACCCTGTCTACAGTCCACCTGAAGTCCCTCCTCAGCTCAGGTCCTAAATCCCAGGCCTAGGATTCCAAGGATCTCTGGCCCAAGACAGCTGGACACTCAAGGATCATATACTTCTTACCTTTCTGGTCCCAGGGCCCTAGGCCCATGAGGTCTAGTAAGGCCCAGCCTCCATATCTCAGGCCAGCAACCACAGGAGGGTTCATTTCTCAGGAGATTCTTAGGAGAGTTTTATTCATTCATTGATCCAGTATTTACAGGGGCTAGAGGGGTCAAGCTGTGCTCAGCCCAGAGGCAGCTGCCACACTTGCCA... | CAGAAAGTGCACCCTGTCTACAGTCCACCTGAAGTCCCTCCTCAGCTCAGGTCCTAAATCCCAGGCCTAGGATTCCAAGGATCTCTGGCCCAAGACAGCTGGACACTCAAGGATCATATACTTCTTACCTTTCTGGTCCCAGGGCCCTAGGCCCATGAGGTCTAGTAAGGCCCAGCCTCCATATCTCAGGCCAGCAACCACAGGAGGGTTCATTTCTCAGGAGATTCTTAGGAGAGTTTTATTCATTCATTGATCCAGTATTTACAGGGGCTAGAGGGGTCAAGCTGTGCTCAGCCCAGAGGCAGCTGCCACACTTGCCA... | pathogenic | 69,245 |
Is the genetic change at chromosome 3, position 52403142, within gene BAP1 (BRCA1 associated deubiquitinase 1) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['BAP1-related_tumor_predisposition_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | GAGGCAGCTGCCACACTTGCCAGCACCCCCCACTCAGTCACTATGTACAGATAAAGGGGCCTGCTTGGATCACCTTTTTCAAAGCCATCTGGCAGAGGCCATGGGGCTGTGTTGGGGCCTGGGCTCCAGAGGCACTGCTGGGCCCATTACCCCTTGGCATCAGGTCCTCTGGAACACAGGGGCTCCAACGGGTTGTCTTGATCCTGCTGTCCCCCACCCTGAGTGCCTTGCAGAGGCTGAGGAAACTGGAGTAGCAGGAAGAGCTGAGTGGTGCCAGCTTCCTATAAGCAACCCTGTCTCTGCTACCCCTGAGAGGGAGA... | GAGGCAGCTGCCACACTTGCCAGCACCCCCCACTCAGTCACTATGTACAGATAAAGGGGCCTGCTTGGATCACCTTTTTCAAAGCCATCTGGCAGAGGCCATGGGGCTGTGTTGGGGCCTGGGCTCCAGAGGCACTGCTGGGCCCATTACCCCTTGGCATCAGGTCCTCTGGAACACAGGGGCTCCAACGGGTTGTCTTGATCCTGCTGTCCCCCACCCTGAGTGCCTTGCAGAGGCTGAGGAAACTGGAGTAGCAGGAAGAGCTGAGTGGTGCCAGCTTCCTATAAGCAACCCTGTCTCTGCTACCCCTGAGAGGGAGA... | pathogenic | 69,256 |
Is the chromosome 3, position 52403158 variant in BAP1 (BRCA1 associated deubiquitinase 1) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['BAP1-related_tumor_predisposition_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TTGCCAGCACCCCCCACTCAGTCACTATGTACAGATAAAGGGGCCTGCTTGGATCACCTTTTTCAAAGCCATCTGGCAGAGGCCATGGGGCTGTGTTGGGGCCTGGGCTCCAGAGGCACTGCTGGGCCCATTACCCCTTGGCATCAGGTCCTCTGGAACACAGGGGCTCCAACGGGTTGTCTTGATCCTGCTGTCCCCCACCCTGAGTGCCTTGCAGAGGCTGAGGAAACTGGAGTAGCAGGAAGAGCTGAGTGGTGCCAGCTTCCTATAAGCAACCCTGTCTCTGCTACCCCTGAGAGGGAGACATGGTAATACTGAGG... | TTGCCAGCACCCCCCACTCAGTCACTATGTACAGATAAAGGGGCCTGCTTGGATCACCTTTTTCAAAGCCATCTGGCAGAGGCCATGGGGCTGTGTTGGGGCCTGGGCTCCAGAGGCACTGCTGGGCCCATTACCCCTTGGCATCAGGTCCTCTGGAACACAGGGGCTCCAACGGGTTGTCTTGATCCTGCTGTCCCCCACCCTGAGTGCCTTGCAGAGGCTGAGGAAACTGGAGTAGCAGGAAGAGCTGAGTGGTGCCAGCTTCCTATAAGCAACCCTGTCTCTGCTACCCCTGAGAGGGAGACATGGTAATACTGAGG... | pathogenic | 69,260 |
Clinical classification of chromosome 3, position 52403192, gene BAP1 (BRCA1 associated deubiquitinase 1): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['BAP1-related_tumor_predisposition_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | ATAAAGGGGCCTGCTTGGATCACCTTTTTCAAAGCCATCTGGCAGAGGCCATGGGGCTGTGTTGGGGCCTGGGCTCCAGAGGCACTGCTGGGCCCATTACCCCTTGGCATCAGGTCCTCTGGAACACAGGGGCTCCAACGGGTTGTCTTGATCCTGCTGTCCCCCACCCTGAGTGCCTTGCAGAGGCTGAGGAAACTGGAGTAGCAGGAAGAGCTGAGTGGTGCCAGCTTCCTATAAGCAACCCTGTCTCTGCTACCCCTGAGAGGGAGACATGGTAATACTGAGGGGCTGGACAGAGGCTCTTCTGAGCCTCAAGCGCC... | ATAAAGGGGCCTGCTTGGATCACCTTTTTCAAAGCCATCTGGCAGAGGCCATGGGGCTGTGTTGGGGCCTGGGCTCCAGAGGCACTGCTGGGCCCATTACCCCTTGGCATCAGGTCCTCTGGAACACAGGGGCTCCAACGGGTTGTCTTGATCCTGCTGTCCCCCACCCTGAGTGCCTTGCAGAGGCTGAGGAAACTGGAGTAGCAGGAAGAGCTGAGTGGTGCCAGCTTCCTATAAGCAACCCTGTCTCTGCTACCCCTGAGAGGGAGACATGGTAATACTGAGGGGCTGGACAGAGGCTCTTCTGAGCCTCAAGCGCC... | pathogenic | 69,268 |
Gene mutation in BAP1 (BRCA1 associated deubiquitinase 1) at chromosome 3, position 52403214—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['BAP1-related_tumor_predisposition_syndrome'] | CCTTTTTCAAAGCCATCTGGCAGAGGCCATGGGGCTGTGTTGGGGCCTGGGCTCCAGAGGCACTGCTGGGCCCATTACCCCTTGGCATCAGGTCCTCTGGAACACAGGGGCTCCAACGGGTTGTCTTGATCCTGCTGTCCCCCACCCTGAGTGCCTTGCAGAGGCTGAGGAAACTGGAGTAGCAGGAAGAGCTGAGTGGTGCCAGCTTCCTATAAGCAACCCTGTCTCTGCTACCCCTGAGAGGGAGACATGGTAATACTGAGGGGCTGGACAGAGGCTCTTCTGAGCCTCAAGCGCCAGGGACAGAGACCTAGAGCCCA... | CCTTTTTCAAAGCCATCTGGCAGAGGCCATGGGGCTGTGTTGGGGCCTGGGCTCCAGAGGCACTGCTGGGCCCATTACCCCTTGGCATCAGGTCCTCTGGAACACAGGGGCTCCAACGGGTTGTCTTGATCCTGCTGTCCCCCACCCTGAGTGCCTTGCAGAGGCTGAGGAAACTGGAGTAGCAGGAAGAGCTGAGTGGTGCCAGCTTCCTATAAGCAACCCTGTCTCTGCTACCCCTGAGAGGGAGACATGGTAATACTGAGGGGCTGGACAGAGGCTCTTCTGAGCCTCAAGCGCCAGGGACAGAGACCTAGAGCCCA... | pathogenic | 69,275 |
Considering the variant on chromosome 3, location 52403241, involving gene BAP1 (BRCA1 associated deubiquitinase 1), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['BAP1-related_tumor_predisposition_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | CATGGGGCTGTGTTGGGGCCTGGGCTCCAGAGGCACTGCTGGGCCCATTACCCCTTGGCATCAGGTCCTCTGGAACACAGGGGCTCCAACGGGTTGTCTTGATCCTGCTGTCCCCCACCCTGAGTGCCTTGCAGAGGCTGAGGAAACTGGAGTAGCAGGAAGAGCTGAGTGGTGCCAGCTTCCTATAAGCAACCCTGTCTCTGCTACCCCTGAGAGGGAGACATGGTAATACTGAGGGGCTGGACAGAGGCTCTTCTGAGCCTCAAGCGCCAGGGACAGAGACCTAGAGCCCAATTTAGGCCCATAGCTAGGGCCACAAC... | CATGGGGCTGTGTTGGGGCCTGGGCTCCAGAGGCACTGCTGGGCCCATTACCCCTTGGCATCAGGTCCTCTGGAACACAGGGGCTCCAACGGGTTGTCTTGATCCTGCTGTCCCCCACCCTGAGTGCCTTGCAGAGGCTGAGGAAACTGGAGTAGCAGGAAGAGCTGAGTGGTGCCAGCTTCCTATAAGCAACCCTGTCTCTGCTACCCCTGAGAGGGAGACATGGTAATACTGAGGGGCTGGACAGAGGCTCTTCTGAGCCTCAAGCGCCAGGGACAGAGACCTAGAGCCCAATTTAGGCCCATAGCTAGGGCCACAAC... | pathogenic | 69,284 |
Gene BAP1 (BRCA1 associated deubiquitinase 1) variant at chromosome 3, position 52403414—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['BAP1-related_tumor_predisposition_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | GCCAGCTTCCTATAAGCAACCCTGTCTCTGCTACCCCTGAGAGGGAGACATGGTAATACTGAGGGGCTGGACAGAGGCTCTTCTGAGCCTCAAGCGCCAGGGACAGAGACCTAGAGCCCAATTTAGGCCCATAGCTAGGGCCACAACACTGAAGGCGAAGAGCCCTAGAACCTTGCTATGGAGAGCAGTCTTGAACAGCCTGGCTAGAACAAGGAAGACAGTTCACAGGCCACTGAACAGTTCCCACATGCTCTGCTCAGGCCATGGGATCCCAGCAGCCTGCTCACCCCAACCCCACTGGGACACCCTACTCCCAACCC... | GCCAGCTTCCTATAAGCAACCCTGTCTCTGCTACCCCTGAGAGGGAGACATGGTAATACTGAGGGGCTGGACAGAGGCTCTTCTGAGCCTCAAGCGCCAGGGACAGAGACCTAGAGCCCAATTTAGGCCCATAGCTAGGGCCACAACACTGAAGGCGAAGAGCCCTAGAACCTTGCTATGGAGAGCAGTCTTGAACAGCCTGGCTAGAACAAGGAAGACAGTTCACAGGCCACTGAACAGTTCCCACATGCTCTGCTCAGGCCATGGGATCCCAGCAGCCTGCTCACCCCAACCCCACTGGGACACCCTACTCCCAACCC... | pathogenic | 69,306 |
Variant in BAP1 (BRCA1 associated deubiquitinase 1), chromosome 3, position 52403427—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['BAP1-related_tumor_predisposition_syndrome', 'BAP1_Cancer_Syndrome', 'Hereditary_cancer-predisposing_syndrome', 'Melanoma,_uveal,_susceptibility_to,_2'] | AAGCAACCCTGTCTCTGCTACCCCTGAGAGGGAGACATGGTAATACTGAGGGGCTGGACAGAGGCTCTTCTGAGCCTCAAGCGCCAGGGACAGAGACCTAGAGCCCAATTTAGGCCCATAGCTAGGGCCACAACACTGAAGGCGAAGAGCCCTAGAACCTTGCTATGGAGAGCAGTCTTGAACAGCCTGGCTAGAACAAGGAAGACAGTTCACAGGCCACTGAACAGTTCCCACATGCTCTGCTCAGGCCATGGGATCCCAGCAGCCTGCTCACCCCAACCCCACTGGGACACCCTACTCCCAACCCAGCCCAGTGCTGG... | AAGCAACCCTGTCTCTGCTACCCCTGAGAGGGAGACATGGTAATACTGAGGGGCTGGACAGAGGCTCTTCTGAGCCTCAAGCGCCAGGGACAGAGACCTAGAGCCCAATTTAGGCCCATAGCTAGGGCCACAACACTGAAGGCGAAGAGCCCTAGAACCTTGCTATGGAGAGCAGTCTTGAACAGCCTGGCTAGAACAAGGAAGACAGTTCACAGGCCACTGAACAGTTCCCACATGCTCTGCTCAGGCCATGGGATCCCAGCAGCCTGCTCACCCCAACCCCACTGGGACACCCTACTCCCAACCCAGCCCAGTGCTGG... | pathogenic | 69,311 |
Variant in gene BAP1 (BRCA1 associated deubiquitinase 1), located at chromosome 3 position 52403435: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['BAP1-related_tumor_predisposition_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | CTGTCTCTGCTACCCCTGAGAGGGAGACATGGTAATACTGAGGGGCTGGACAGAGGCTCTTCTGAGCCTCAAGCGCCAGGGACAGAGACCTAGAGCCCAATTTAGGCCCATAGCTAGGGCCACAACACTGAAGGCGAAGAGCCCTAGAACCTTGCTATGGAGAGCAGTCTTGAACAGCCTGGCTAGAACAAGGAAGACAGTTCACAGGCCACTGAACAGTTCCCACATGCTCTGCTCAGGCCATGGGATCCCAGCAGCCTGCTCACCCCAACCCCACTGGGACACCCTACTCCCAACCCAGCCCAGTGCTGGGTCCCTGA... | CTGTCTCTGCTACCCCTGAGAGGGAGACATGGTAATACTGAGGGGCTGGACAGAGGCTCTTCTGAGCCTCAAGCGCCAGGGACAGAGACCTAGAGCCCAATTTAGGCCCATAGCTAGGGCCACAACACTGAAGGCGAAGAGCCCTAGAACCTTGCTATGGAGAGCAGTCTTGAACAGCCTGGCTAGAACAAGGAAGACAGTTCACAGGCCACTGAACAGTTCCCACATGCTCTGCTCAGGCCATGGGATCCCAGCAGCCTGCTCACCCCAACCCCACTGGGACACCCTACTCCCAACCCAGCCCAGTGCTGGGTCCCTGA... | pathogenic | 69,313 |
A genetic alteration at chromosome 3, position 52403449, in gene BAP1 (BRCA1 associated deubiquitinase 1)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['BAP1-related_tumor_predisposition_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | CCTGAGAGGGAGACATGGTAATACTGAGGGGCTGGACAGAGGCTCTTCTGAGCCTCAAGCGCCAGGGACAGAGACCTAGAGCCCAATTTAGGCCCATAGCTAGGGCCACAACACTGAAGGCGAAGAGCCCTAGAACCTTGCTATGGAGAGCAGTCTTGAACAGCCTGGCTAGAACAAGGAAGACAGTTCACAGGCCACTGAACAGTTCCCACATGCTCTGCTCAGGCCATGGGATCCCAGCAGCCTGCTCACCCCAACCCCACTGGGACACCCTACTCCCAACCCAGCCCAGTGCTGGGTCCCTGAGTTTGGCACTCTCC... | CCTGAGAGGGAGACATGGTAATACTGAGGGGCTGGACAGAGGCTCTTCTGAGCCTCAAGCGCCAGGGACAGAGACCTAGAGCCCAATTTAGGCCCATAGCTAGGGCCACAACACTGAAGGCGAAGAGCCCTAGAACCTTGCTATGGAGAGCAGTCTTGAACAGCCTGGCTAGAACAAGGAAGACAGTTCACAGGCCACTGAACAGTTCCCACATGCTCTGCTCAGGCCATGGGATCCCAGCAGCCTGCTCACCCCAACCCCACTGGGACACCCTACTCCCAACCCAGCCCAGTGCTGGGTCCCTGAGTTTGGCACTCTCC... | pathogenic | 69,318 |
Regarding the variant found on chromosome 3 at position 52403495 in gene BAP1 (BRCA1 associated deubiquitinase 1): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['BAP1-related_tumor_predisposition_syndrome'] | TCTGAGCCTCAAGCGCCAGGGACAGAGACCTAGAGCCCAATTTAGGCCCATAGCTAGGGCCACAACACTGAAGGCGAAGAGCCCTAGAACCTTGCTATGGAGAGCAGTCTTGAACAGCCTGGCTAGAACAAGGAAGACAGTTCACAGGCCACTGAACAGTTCCCACATGCTCTGCTCAGGCCATGGGATCCCAGCAGCCTGCTCACCCCAACCCCACTGGGACACCCTACTCCCAACCCAGCCCAGTGCTGGGTCCCTGAGTTTGGCACTCTCCTAAGAGGAATGAAGAGAGAAGACCTGGCTTCCTTACAACAGGGACA... | TCTGAGCCTCAAGCGCCAGGGACAGAGACCTAGAGCCCAATTTAGGCCCATAGCTAGGGCCACAACACTGAAGGCGAAGAGCCCTAGAACCTTGCTATGGAGAGCAGTCTTGAACAGCCTGGCTAGAACAAGGAAGACAGTTCACAGGCCACTGAACAGTTCCCACATGCTCTGCTCAGGCCATGGGATCCCAGCAGCCTGCTCACCCCAACCCCACTGGGACACCCTACTCCCAACCCAGCCCAGTGCTGGGTCCCTGAGTTTGGCACTCTCCTAAGAGGAATGAAGAGAGAAGACCTGGCTTCCTTACAACAGGGACA... | pathogenic | 69,328 |
The mutation impacting BAP1 (BRCA1 associated deubiquitinase 1) on chromosome 3 at position 52403556: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['BAP1-related_tumor_predisposition_syndrome'] | ACAACACTGAAGGCGAAGAGCCCTAGAACCTTGCTATGGAGAGCAGTCTTGAACAGCCTGGCTAGAACAAGGAAGACAGTTCACAGGCCACTGAACAGTTCCCACATGCTCTGCTCAGGCCATGGGATCCCAGCAGCCTGCTCACCCCAACCCCACTGGGACACCCTACTCCCAACCCAGCCCAGTGCTGGGTCCCTGAGTTTGGCACTCTCCTAAGAGGAATGAAGAGAGAAGACCTGGCTTCCTTACAACAGGGACAGGCTGGTGGCTGGGGCTAGAGCAGCAGGGCCCAGAGCCCAGGGCCCACCCAGGCCCCCAGC... | ACAACACTGAAGGCGAAGAGCCCTAGAACCTTGCTATGGAGAGCAGTCTTGAACAGCCTGGCTAGAACAAGGAAGACAGTTCACAGGCCACTGAACAGTTCCCACATGCTCTGCTCAGGCCATGGGATCCCAGCAGCCTGCTCACCCCAACCCCACTGGGACACCCTACTCCCAACCCAGCCCAGTGCTGGGTCCCTGAGTTTGGCACTCTCCTAAGAGGAATGAAGAGAGAAGACCTGGCTTCCTTACAACAGGGACAGGCTGGTGGCTGGGGCTAGAGCAGCAGGGCCCAGAGCCCAGGGCCCACCCAGGCCCCCAGC... | pathogenic | 69,337 |
Chromosome 3, position 52403578, gene BAP1 (BRCA1 associated deubiquitinase 1): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['BAP1-related_tumor_predisposition_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | CTAGAACCTTGCTATGGAGAGCAGTCTTGAACAGCCTGGCTAGAACAAGGAAGACAGTTCACAGGCCACTGAACAGTTCCCACATGCTCTGCTCAGGCCATGGGATCCCAGCAGCCTGCTCACCCCAACCCCACTGGGACACCCTACTCCCAACCCAGCCCAGTGCTGGGTCCCTGAGTTTGGCACTCTCCTAAGAGGAATGAAGAGAGAAGACCTGGCTTCCTTACAACAGGGACAGGCTGGTGGCTGGGGCTAGAGCAGCAGGGCCCAGAGCCCAGGGCCCACCCAGGCCCCCAGCTAGGACCCTGTAGTTGGGACCG... | CTAGAACCTTGCTATGGAGAGCAGTCTTGAACAGCCTGGCTAGAACAAGGAAGACAGTTCACAGGCCACTGAACAGTTCCCACATGCTCTGCTCAGGCCATGGGATCCCAGCAGCCTGCTCACCCCAACCCCACTGGGACACCCTACTCCCAACCCAGCCCAGTGCTGGGTCCCTGAGTTTGGCACTCTCCTAAGAGGAATGAAGAGAGAAGACCTGGCTTCCTTACAACAGGGACAGGCTGGTGGCTGGGGCTAGAGCAGCAGGGCCCAGAGCCCAGGGCCCACCCAGGCCCCCAGCTAGGACCCTGTAGTTGGGACCG... | pathogenic | 69,343 |
Does the variant impacting BAP1 (BRCA1 associated deubiquitinase 1) on chromosome 3, position 52403636, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['BAP1-related_tumor_predisposition_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TCACAGGCCACTGAACAGTTCCCACATGCTCTGCTCAGGCCATGGGATCCCAGCAGCCTGCTCACCCCAACCCCACTGGGACACCCTACTCCCAACCCAGCCCAGTGCTGGGTCCCTGAGTTTGGCACTCTCCTAAGAGGAATGAAGAGAGAAGACCTGGCTTCCTTACAACAGGGACAGGCTGGTGGCTGGGGCTAGAGCAGCAGGGCCCAGAGCCCAGGGCCCACCCAGGCCCCCAGCTAGGACCCTGTAGTTGGGACCGTGGCATGATACAAGGACCTGGGCCCACCAGGACAGCTCCTAGGAGAGAAAGCATAGTC... | TCACAGGCCACTGAACAGTTCCCACATGCTCTGCTCAGGCCATGGGATCCCAGCAGCCTGCTCACCCCAACCCCACTGGGACACCCTACTCCCAACCCAGCCCAGTGCTGGGTCCCTGAGTTTGGCACTCTCCTAAGAGGAATGAAGAGAGAAGACCTGGCTTCCTTACAACAGGGACAGGCTGGTGGCTGGGGCTAGAGCAGCAGGGCCCAGAGCCCAGGGCCCACCCAGGCCCCCAGCTAGGACCCTGTAGTTGGGACCGTGGCATGATACAAGGACCTGGGCCCACCAGGACAGCTCCTAGGAGAGAAAGCATAGTC... | pathogenic | 69,358 |
Gene mutation in BAP1 (BRCA1 associated deubiquitinase 1) at chromosome 3, position 52403669—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['BAP1-related_tumor_predisposition_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | CTCAGGCCATGGGATCCCAGCAGCCTGCTCACCCCAACCCCACTGGGACACCCTACTCCCAACCCAGCCCAGTGCTGGGTCCCTGAGTTTGGCACTCTCCTAAGAGGAATGAAGAGAGAAGACCTGGCTTCCTTACAACAGGGACAGGCTGGTGGCTGGGGCTAGAGCAGCAGGGCCCAGAGCCCAGGGCCCACCCAGGCCCCCAGCTAGGACCCTGTAGTTGGGACCGTGGCATGATACAAGGACCTGGGCCCACCAGGACAGCTCCTAGGAGAGAAAGCATAGTCAGGTAGGAACTTATGTCAACATGGTGGCATGTT... | CTCAGGCCATGGGATCCCAGCAGCCTGCTCACCCCAACCCCACTGGGACACCCTACTCCCAACCCAGCCCAGTGCTGGGTCCCTGAGTTTGGCACTCTCCTAAGAGGAATGAAGAGAGAAGACCTGGCTTCCTTACAACAGGGACAGGCTGGTGGCTGGGGCTAGAGCAGCAGGGCCCAGAGCCCAGGGCCCACCCAGGCCCCCAGCTAGGACCCTGTAGTTGGGACCGTGGCATGATACAAGGACCTGGGCCCACCAGGACAGCTCCTAGGAGAGAAAGCATAGTCAGGTAGGAACTTATGTCAACATGGTGGCATGTT... | pathogenic | 69,364 |
Is the genetic variant on chromosome 3, position 52403680, gene BAP1 (BRCA1 associated deubiquitinase 1), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['BAP1-related_tumor_predisposition_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | GGATCCCAGCAGCCTGCTCACCCCAACCCCACTGGGACACCCTACTCCCAACCCAGCCCAGTGCTGGGTCCCTGAGTTTGGCACTCTCCTAAGAGGAATGAAGAGAGAAGACCTGGCTTCCTTACAACAGGGACAGGCTGGTGGCTGGGGCTAGAGCAGCAGGGCCCAGAGCCCAGGGCCCACCCAGGCCCCCAGCTAGGACCCTGTAGTTGGGACCGTGGCATGATACAAGGACCTGGGCCCACCAGGACAGCTCCTAGGAGAGAAAGCATAGTCAGGTAGGAACTTATGTCAACATGGTGGCATGTTGGGTTGGAGCC... | GGATCCCAGCAGCCTGCTCACCCCAACCCCACTGGGACACCCTACTCCCAACCCAGCCCAGTGCTGGGTCCCTGAGTTTGGCACTCTCCTAAGAGGAATGAAGAGAGAAGACCTGGCTTCCTTACAACAGGGACAGGCTGGTGGCTGGGGCTAGAGCAGCAGGGCCCAGAGCCCAGGGCCCACCCAGGCCCCCAGCTAGGACCCTGTAGTTGGGACCGTGGCATGATACAAGGACCTGGGCCCACCAGGACAGCTCCTAGGAGAGAAAGCATAGTCAGGTAGGAACTTATGTCAACATGGTGGCATGTTGGGTTGGAGCC... | pathogenic | 69,365 |
Clinical significance of chromosome 3, position 52403695, gene BAP1 (BRCA1 associated deubiquitinase 1): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['BAP1-related_tumor_predisposition_syndrome'] | GCTCACCCCAACCCCACTGGGACACCCTACTCCCAACCCAGCCCAGTGCTGGGTCCCTGAGTTTGGCACTCTCCTAAGAGGAATGAAGAGAGAAGACCTGGCTTCCTTACAACAGGGACAGGCTGGTGGCTGGGGCTAGAGCAGCAGGGCCCAGAGCCCAGGGCCCACCCAGGCCCCCAGCTAGGACCCTGTAGTTGGGACCGTGGCATGATACAAGGACCTGGGCCCACCAGGACAGCTCCTAGGAGAGAAAGCATAGTCAGGTAGGAACTTATGTCAACATGGTGGCATGTTGGGTTGGAGCCCAGAAAAATAGATGT... | GCTCACCCCAACCCCACTGGGACACCCTACTCCCAACCCAGCCCAGTGCTGGGTCCCTGAGTTTGGCACTCTCCTAAGAGGAATGAAGAGAGAAGACCTGGCTTCCTTACAACAGGGACAGGCTGGTGGCTGGGGCTAGAGCAGCAGGGCCCAGAGCCCAGGGCCCACCCAGGCCCCCAGCTAGGACCCTGTAGTTGGGACCGTGGCATGATACAAGGACCTGGGCCCACCAGGACAGCTCCTAGGAGAGAAAGCATAGTCAGGTAGGAACTTATGTCAACATGGTGGCATGTTGGGTTGGAGCCCAGAAAAATAGATGT... | pathogenic | 69,370 |
For chromosome 3, position 52403707, gene BAP1 (BRCA1 associated deubiquitinase 1): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['BAP1-related_tumor_predisposition_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | CCCACTGGGACACCCTACTCCCAACCCAGCCCAGTGCTGGGTCCCTGAGTTTGGCACTCTCCTAAGAGGAATGAAGAGAGAAGACCTGGCTTCCTTACAACAGGGACAGGCTGGTGGCTGGGGCTAGAGCAGCAGGGCCCAGAGCCCAGGGCCCACCCAGGCCCCCAGCTAGGACCCTGTAGTTGGGACCGTGGCATGATACAAGGACCTGGGCCCACCAGGACAGCTCCTAGGAGAGAAAGCATAGTCAGGTAGGAACTTATGTCAACATGGTGGCATGTTGGGTTGGAGCCCAGAAAAATAGATGTCTCTGATAGGTA... | CCCACTGGGACACCCTACTCCCAACCCAGCCCAGTGCTGGGTCCCTGAGTTTGGCACTCTCCTAAGAGGAATGAAGAGAGAAGACCTGGCTTCCTTACAACAGGGACAGGCTGGTGGCTGGGGCTAGAGCAGCAGGGCCCAGAGCCCAGGGCCCACCCAGGCCCCCAGCTAGGACCCTGTAGTTGGGACCGTGGCATGATACAAGGACCTGGGCCCACCAGGACAGCTCCTAGGAGAGAAAGCATAGTCAGGTAGGAACTTATGTCAACATGGTGGCATGTTGGGTTGGAGCCCAGAAAAATAGATGTCTCTGATAGGTA... | pathogenic | 69,374 |
Clinical classification of chromosome 3, position 52403785, gene BAP1 (BRCA1 associated deubiquitinase 1): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['BAP1-related_tumor_predisposition_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | AGAAGACCTGGCTTCCTTACAACAGGGACAGGCTGGTGGCTGGGGCTAGAGCAGCAGGGCCCAGAGCCCAGGGCCCACCCAGGCCCCCAGCTAGGACCCTGTAGTTGGGACCGTGGCATGATACAAGGACCTGGGCCCACCAGGACAGCTCCTAGGAGAGAAAGCATAGTCAGGTAGGAACTTATGTCAACATGGTGGCATGTTGGGTTGGAGCCCAGAAAAATAGATGTCTCTGATAGGTAAAATATATATTCTGCTGCCCAGGCAGAAGGGCCAGGTCCTGCTGCTCCACAGCCGGCTGTGGAGGAAGCTGCAGTACC... | AGAAGACCTGGCTTCCTTACAACAGGGACAGGCTGGTGGCTGGGGCTAGAGCAGCAGGGCCCAGAGCCCAGGGCCCACCCAGGCCCCCAGCTAGGACCCTGTAGTTGGGACCGTGGCATGATACAAGGACCTGGGCCCACCAGGACAGCTCCTAGGAGAGAAAGCATAGTCAGGTAGGAACTTATGTCAACATGGTGGCATGTTGGGTTGGAGCCCAGAAAAATAGATGTCTCTGATAGGTAAAATATATATTCTGCTGCCCAGGCAGAAGGGCCAGGTCCTGCTGCTCCACAGCCGGCTGTGGAGGAAGCTGCAGTACC... | pathogenic | 69,394 |
The mutation impacting BAP1 (BRCA1 associated deubiquitinase 1) on chromosome 3 at position 52403785: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['BAP1-related_tumor_predisposition_syndrome', 'Hereditary_cancer-predisposing_syndrome', 'Kury-Isidor_syndrome', 'Melanoma,_uveal,_susceptibility_to,_2'] | AGAAGACCTGGCTTCCTTACAACAGGGACAGGCTGGTGGCTGGGGCTAGAGCAGCAGGGCCCAGAGCCCAGGGCCCACCCAGGCCCCCAGCTAGGACCCTGTAGTTGGGACCGTGGCATGATACAAGGACCTGGGCCCACCAGGACAGCTCCTAGGAGAGAAAGCATAGTCAGGTAGGAACTTATGTCAACATGGTGGCATGTTGGGTTGGAGCCCAGAAAAATAGATGTCTCTGATAGGTAAAATATATATTCTGCTGCCCAGGCAGAAGGGCCAGGTCCTGCTGCTCCACAGCCGGCTGTGGAGGAAGCTGCAGTACC... | AGAAGACCTGGCTTCCTTACAACAGGGACAGGCTGGTGGCTGGGGCTAGAGCAGCAGGGCCCAGAGCCCAGGGCCCACCCAGGCCCCCAGCTAGGACCCTGTAGTTGGGACCGTGGCATGATACAAGGACCTGGGCCCACCAGGACAGCTCCTAGGAGAGAAAGCATAGTCAGGTAGGAACTTATGTCAACATGGTGGCATGTTGGGTTGGAGCCCAGAAAAATAGATGTCTCTGATAGGTAAAATATATATTCTGCTGCCCAGGCAGAAGGGCCAGGTCCTGCTGCTCCACAGCCGGCTGTGGAGGAAGCTGCAGTACC... | pathogenic | 69,395 |
Chromosome 3, position 52404499, gene BAP1 (BRCA1 associated deubiquitinase 1): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['BAP1-related_tumor_predisposition_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TGCTGGCTGCCTCAGGCCAGGAGCTGAGGCTCTCATGGCCCTCCCTGTGCCCCAAGGTCTGCTCAAGCCTCAGGAGAGGCCAGGGGAGGGGAGCTGAAGGACACGGCCCTCAGCAGGGCATTCCAGTTAAGACAGCAGCGCATCCCCTCACCTTCCTGAGCCAGCATGGAGATAAAGGTGCAGATGAACTCATCGTAGTTGTGGGTCCTTCTCTGGTCATCAATCTGTAGGAGAGAAGAAGACTGAGAGCACTGGAGCCAATCTTGCCAGAGCAGCCACCAGTGGACCTCGGGAGAGGCCAGATCAGGCAACTGGAGAAA... | TGCTGGCTGCCTCAGGCCAGGAGCTGAGGCTCTCATGGCCCTCCCTGTGCCCCAAGGTCTGCTCAAGCCTCAGGAGAGGCCAGGGGAGGGGAGCTGAAGGACACGGCCCTCAGCAGGGCATTCCAGTTAAGACAGCAGCGCATCCCCTCACCTTCCTGAGCCAGCATGGAGATAAAGGTGCAGATGAACTCATCGTAGTTGTGGGTCCTTCTCTGGTCATCAATCTGTAGGAGAGAAGAAGACTGAGAGCACTGGAGCCAATCTTGCCAGAGCAGCCACCAGTGGACCTCGGGAGAGGCCAGATCAGGCAACTGGAGAAA... | pathogenic | 69,438 |
Classify the chromosome 3 variant at position 52404499 affecting gene BAP1 (BRCA1 associated deubiquitinase 1) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['BAP1-related_tumor_predisposition_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TGCTGGCTGCCTCAGGCCAGGAGCTGAGGCTCTCATGGCCCTCCCTGTGCCCCAAGGTCTGCTCAAGCCTCAGGAGAGGCCAGGGGAGGGGAGCTGAAGGACACGGCCCTCAGCAGGGCATTCCAGTTAAGACAGCAGCGCATCCCCTCACCTTCCTGAGCCAGCATGGAGATAAAGGTGCAGATGAACTCATCGTAGTTGTGGGTCCTTCTCTGGTCATCAATCTGTAGGAGAGAAGAAGACTGAGAGCACTGGAGCCAATCTTGCCAGAGCAGCCACCAGTGGACCTCGGGAGAGGCCAGATCAGGCAACTGGAGAAA... | TGCTGGCTGCCTCAGGCCAGGAGCTGAGGCTCTCATGGCCCTCCCTGTGCCCCAAGGTCTGCTCAAGCCTCAGGAGAGGCCAGGGGAGGGGAGCTGAAGGACACGGCCCTCAGCAGGGCATTCCAGTTAAGACAGCAGCGCATCCCCTCACCTTCCTGAGCCAGCATGGAGATAAAGGTGCAGATGAACTCATCGTAGTTGTGGGTCCTTCTCTGGTCATCAATCTGTAGGAGAGAAGAAGACTGAGAGCACTGGAGCCAATCTTGCCAGAGCAGCCACCAGTGGACCTCGGGAGAGGCCAGATCAGGCAACTGGAGAAA... | pathogenic | 69,439 |
Mutation at chromosome 3, position 52404533, within BAP1 (BRCA1 associated deubiquitinase 1): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['BAP1-related_tumor_predisposition_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | ATGGCCCTCCCTGTGCCCCAAGGTCTGCTCAAGCCTCAGGAGAGGCCAGGGGAGGGGAGCTGAAGGACACGGCCCTCAGCAGGGCATTCCAGTTAAGACAGCAGCGCATCCCCTCACCTTCCTGAGCCAGCATGGAGATAAAGGTGCAGATGAACTCATCGTAGTTGTGGGTCCTTCTCTGGTCATCAATCTGTAGGAGAGAAGAAGACTGAGAGCACTGGAGCCAATCTTGCCAGAGCAGCCACCAGTGGACCTCGGGAGAGGCCAGATCAGGCAACTGGAGAAATCACCCACCTTGAACTTCTTCCTCTTCTCTACCT... | ATGGCCCTCCCTGTGCCCCAAGGTCTGCTCAAGCCTCAGGAGAGGCCAGGGGAGGGGAGCTGAAGGACACGGCCCTCAGCAGGGCATTCCAGTTAAGACAGCAGCGCATCCCCTCACCTTCCTGAGCCAGCATGGAGATAAAGGTGCAGATGAACTCATCGTAGTTGTGGGTCCTTCTCTGGTCATCAATCTGTAGGAGAGAAGAAGACTGAGAGCACTGGAGCCAATCTTGCCAGAGCAGCCACCAGTGGACCTCGGGAGAGGCCAGATCAGGCAACTGGAGAAATCACCCACCTTGAACTTCTTCCTCTTCTCTACCT... | pathogenic | 69,452 |
Mutation at chromosome 3, position 52405098, within BAP1 (BRCA1 associated deubiquitinase 1): benign or pathogenic? If pathogenic, indicate the disease(s). | benign | TCCAATCAAGAACTTGGCACCTGGGCAGGAGGAGCTCAGGCCTTACCCTCTGCCAGGATTAAAGGAGAAAACCACAACGGAGGCTCACCTTGGGTGAGTATTTCTCCCCACTCAAGGGCTCGCCAGGCCTCACCATCCCCGTCTTCTCTCTGCTGTCCGTGGCTTCCACGACCTCCTTCTCCACTGGGCTGCTGGACCCCTGGCTGCCTTGGATTGGTCTGATGGAGGGCGAGGAACCCTTCCCACCCTCTGGGAAGAGAGGTCACAAGAAAATCATCAGAGTGCAGGACACTTTGTGGTCACTTGGCCACTTCCCTCCT... | TCCAATCAAGAACTTGGCACCTGGGCAGGAGGAGCTCAGGCCTTACCCTCTGCCAGGATTAAAGGAGAAAACCACAACGGAGGCTCACCTTGGGTGAGTATTTCTCCCCACTCAAGGGCTCGCCAGGCCTCACCATCCCCGTCTTCTCTCTGCTGTCCGTGGCTTCCACGACCTCCTTCTCCACTGGGCTGCTGGACCCCTGGCTGCCTTGGATTGGTCTGATGGAGGGCGAGGAACCCTTCCCACCCTCTGGGAAGAGAGGTCACAAGAAAATCATCAGAGTGCAGGACACTTTGTGGTCACTTGGCCACTTCCCTCCT... | benign | 69,468 |
Evaluate the clinical significance of the mutation at chromosome 3, position 52405137 in gene BAP1 (BRCA1 associated deubiquitinase 1): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['BAP1-related_tumor_predisposition_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | GCCTTACCCTCTGCCAGGATTAAAGGAGAAAACCACAACGGAGGCTCACCTTGGGTGAGTATTTCTCCCCACTCAAGGGCTCGCCAGGCCTCACCATCCCCGTCTTCTCTCTGCTGTCCGTGGCTTCCACGACCTCCTTCTCCACTGGGCTGCTGGACCCCTGGCTGCCTTGGATTGGTCTGATGGAGGGCGAGGAACCCTTCCCACCCTCTGGGAAGAGAGGTCACAAGAAAATCATCAGAGTGCAGGACACTTTGTGGTCACTTGGCCACTTCCCTCCTCCCTCCTGGGTGCACCAAGTGGCCAGTGAGCCAGTCCAA... | GCCTTACCCTCTGCCAGGATTAAAGGAGAAAACCACAACGGAGGCTCACCTTGGGTGAGTATTTCTCCCCACTCAAGGGCTCGCCAGGCCTCACCATCCCCGTCTTCTCTCTGCTGTCCGTGGCTTCCACGACCTCCTTCTCCACTGGGCTGCTGGACCCCTGGCTGCCTTGGATTGGTCTGATGGAGGGCGAGGAACCCTTCCCACCCTCTGGGAAGAGAGGTCACAAGAAAATCATCAGAGTGCAGGACACTTTGTGGTCACTTGGCCACTTCCCTCCTCCCTCCTGGGTGCACCAAGTGGCCAGTGAGCCAGTCCAA... | pathogenic | 69,475 |
Gene BAP1 (BRCA1 associated deubiquitinase 1) variant at chromosome 3, position 52405219—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Hereditary_cancer-predisposing_syndrome'] | GCCAGGCCTCACCATCCCCGTCTTCTCTCTGCTGTCCGTGGCTTCCACGACCTCCTTCTCCACTGGGCTGCTGGACCCCTGGCTGCCTTGGATTGGTCTGATGGAGGGCGAGGAACCCTTCCCACCCTCTGGGAAGAGAGGTCACAAGAAAATCATCAGAGTGCAGGACACTTTGTGGTCACTTGGCCACTTCCCTCCTCCCTCCTGGGTGCACCAAGTGGCCAGTGAGCCAGTCCAAGGCCCACCTGTCAGCGCCAGGGGACTCAGCACCCCATCCTCAGCCAGGTGCAGCAGGCCTGTGCTGATGACAGGACCCAGAT... | GCCAGGCCTCACCATCCCCGTCTTCTCTCTGCTGTCCGTGGCTTCCACGACCTCCTTCTCCACTGGGCTGCTGGACCCCTGGCTGCCTTGGATTGGTCTGATGGAGGGCGAGGAACCCTTCCCACCCTCTGGGAAGAGAGGTCACAAGAAAATCATCAGAGTGCAGGACACTTTGTGGTCACTTGGCCACTTCCCTCCTCCCTCCTGGGTGCACCAAGTGGCCAGTGAGCCAGTCCAAGGCCCACCTGTCAGCGCCAGGGGACTCAGCACCCCATCCTCAGCCAGGTGCAGCAGGCCTGTGCTGATGACAGGACCCAGAT... | pathogenic | 69,489 |
Located at chromosome 3 position 52405266, the variant affecting gene BAP1 (BRCA1 associated deubiquitinase 1)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['BAP1-related_tumor_predisposition_syndrome'] | CGACCTCCTTCTCCACTGGGCTGCTGGACCCCTGGCTGCCTTGGATTGGTCTGATGGAGGGCGAGGAACCCTTCCCACCCTCTGGGAAGAGAGGTCACAAGAAAATCATCAGAGTGCAGGACACTTTGTGGTCACTTGGCCACTTCCCTCCTCCCTCCTGGGTGCACCAAGTGGCCAGTGAGCCAGTCCAAGGCCCACCTGTCAGCGCCAGGGGACTCAGCACCCCATCCTCAGCCAGGTGCAGCAGGCCTGTGCTGATGACAGGACCCAGATCACGGACAGCACGGTTGTAGCGTATGCAGTCAACACGCAGCAGGCTG... | CGACCTCCTTCTCCACTGGGCTGCTGGACCCCTGGCTGCCTTGGATTGGTCTGATGGAGGGCGAGGAACCCTTCCCACCCTCTGGGAAGAGAGGTCACAAGAAAATCATCAGAGTGCAGGACACTTTGTGGTCACTTGGCCACTTCCCTCCTCCCTCCTGGGTGCACCAAGTGGCCAGTGAGCCAGTCCAAGGCCCACCTGTCAGCGCCAGGGGACTCAGCACCCCATCCTCAGCCAGGTGCAGCAGGCCTGTGCTGATGACAGGACCCAGATCACGGACAGCACGGTTGTAGCGTATGCAGTCAACACGCAGCAGGCTG... | pathogenic | 69,500 |
Mutation found at chromosome 3 position 52405301, gene BAP1 (BRCA1 associated deubiquitinase 1): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | benign | CTGCCTTGGATTGGTCTGATGGAGGGCGAGGAACCCTTCCCACCCTCTGGGAAGAGAGGTCACAAGAAAATCATCAGAGTGCAGGACACTTTGTGGTCACTTGGCCACTTCCCTCCTCCCTCCTGGGTGCACCAAGTGGCCAGTGAGCCAGTCCAAGGCCCACCTGTCAGCGCCAGGGGACTCAGCACCCCATCCTCAGCCAGGTGCAGCAGGCCTGTGCTGATGACAGGACCCAGATCACGGACAGCACGGTTGTAGCGTATGCAGTCAACACGCAGCAGGCTGTCATCCTCTCCAAAAAGCACCTTGGAGATGTGGGA... | CTGCCTTGGATTGGTCTGATGGAGGGCGAGGAACCCTTCCCACCCTCTGGGAAGAGAGGTCACAAGAAAATCATCAGAGTGCAGGACACTTTGTGGTCACTTGGCCACTTCCCTCCTCCCTCCTGGGTGCACCAAGTGGCCAGTGAGCCAGTCCAAGGCCCACCTGTCAGCGCCAGGGGACTCAGCACCCCATCCTCAGCCAGGTGCAGCAGGCCTGTGCTGATGACAGGACCCAGATCACGGACAGCACGGTTGTAGCGTATGCAGTCAACACGCAGCAGGCTGTCATCCTCTCCAAAAAGCACCTTGGAGATGTGGGA... | benign | 69,507 |
Is chromosome 3, position 52405753, gene BAP1 (BRCA1 associated deubiquitinase 1) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | benign | TGTGGGCACTGCCACAGCCGGACTCCCAGCCCCGCTGCTAGTCTTGATGGACAGAGGAATTGAGAGGTCCTTCTGGGACTCTTTGAGCTTCTCAGCCAAGACGTTGATGGTGTTGGGCTGCAGCACTGACAGTTGCCCATCAGCAGAACCGCTCAATGCCCCTGGCTTCCCTGTTCCCTTCCCCTTATACCTGTGGGGCCCGAGAAGATGTGAAGCAAGGGAACGGGCCAGGTGACCATACCCAGCAGTACCCAGAATGGCTTAAATACATCCCGACCTCCAGGGGCTGACCCTAAAACTCCTTATACTTGGTCCAAGCA... | TGTGGGCACTGCCACAGCCGGACTCCCAGCCCCGCTGCTAGTCTTGATGGACAGAGGAATTGAGAGGTCCTTCTGGGACTCTTTGAGCTTCTCAGCCAAGACGTTGATGGTGTTGGGCTGCAGCACTGACAGTTGCCCATCAGCAGAACCGCTCAATGCCCCTGGCTTCCCTGTTCCCTTCCCCTTATACCTGTGGGGCCCGAGAAGATGTGAAGCAAGGGAACGGGCCAGGTGACCATACCCAGCAGTACCCAGAATGGCTTAAATACATCCCGACCTCCAGGGGCTGACCCTAAAACTCCTTATACTTGGTCCAAGCA... | benign | 69,515 |
Gene BAP1 (BRCA1 associated deubiquitinase 1) variant at chromosome 3, position 52405796—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['BAP1-related_tumor_predisposition_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TTGATGGACAGAGGAATTGAGAGGTCCTTCTGGGACTCTTTGAGCTTCTCAGCCAAGACGTTGATGGTGTTGGGCTGCAGCACTGACAGTTGCCCATCAGCAGAACCGCTCAATGCCCCTGGCTTCCCTGTTCCCTTCCCCTTATACCTGTGGGGCCCGAGAAGATGTGAAGCAAGGGAACGGGCCAGGTGACCATACCCAGCAGTACCCAGAATGGCTTAAATACATCCCGACCTCCAGGGGCTGACCCTAAAACTCCTTATACTTGGTCCAAGCAACTTGAACTAGCCATGCTAAGCCTGGCATCAAGTTCTGACAGC... | TTGATGGACAGAGGAATTGAGAGGTCCTTCTGGGACTCTTTGAGCTTCTCAGCCAAGACGTTGATGGTGTTGGGCTGCAGCACTGACAGTTGCCCATCAGCAGAACCGCTCAATGCCCCTGGCTTCCCTGTTCCCTTCCCCTTATACCTGTGGGGCCCGAGAAGATGTGAAGCAAGGGAACGGGCCAGGTGACCATACCCAGCAGTACCCAGAATGGCTTAAATACATCCCGACCTCCAGGGGCTGACCCTAAAACTCCTTATACTTGGTCCAAGCAACTTGAACTAGCCATGCTAAGCCTGGCATCAAGTTCTGACAGC... | pathogenic | 69,531 |
The mutation in gene BAP1 (BRCA1 associated deubiquitinase 1) at chromosome 3, position 52405840—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['BAP1-related_tumor_predisposition_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | CTTCTCAGCCAAGACGTTGATGGTGTTGGGCTGCAGCACTGACAGTTGCCCATCAGCAGAACCGCTCAATGCCCCTGGCTTCCCTGTTCCCTTCCCCTTATACCTGTGGGGCCCGAGAAGATGTGAAGCAAGGGAACGGGCCAGGTGACCATACCCAGCAGTACCCAGAATGGCTTAAATACATCCCGACCTCCAGGGGCTGACCCTAAAACTCCTTATACTTGGTCCAAGCAACTTGAACTAGCCATGCTAAGCCTGGCATCAAGTTCTGACAGCTGCAGCCAAGTGTCCTCAAAAGACACTTCCTCTATTCCAGCCAT... | CTTCTCAGCCAAGACGTTGATGGTGTTGGGCTGCAGCACTGACAGTTGCCCATCAGCAGAACCGCTCAATGCCCCTGGCTTCCCTGTTCCCTTCCCCTTATACCTGTGGGGCCCGAGAAGATGTGAAGCAAGGGAACGGGCCAGGTGACCATACCCAGCAGTACCCAGAATGGCTTAAATACATCCCGACCTCCAGGGGCTGACCCTAAAACTCCTTATACTTGGTCCAAGCAACTTGAACTAGCCATGCTAAGCCTGGCATCAAGTTCTGACAGCTGCAGCCAAGTGTCCTCAAAAGACACTTCCTCTATTCCAGCCAT... | pathogenic | 69,541 |
Subsets and Splits
No community queries yet
The top public SQL queries from the community will appear here once available.