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 |
|---|---|---|---|---|---|
Does the chromosome 2 mutation at position 47808389 within gene MSH6 classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Intellectual_developmental_disorder_with_dysmorphic_facies_and_behavioral_abnormalities'] | GTGCGCCTAGGACATATGGTATGTGCAAATTGTTTTTTTCCACAAATTCGGTTTTTTGAGAGGGCACTTCTCTTGCTAGCACATGTATCGCTAATATTTTTCTTTCTTAAGGCATGCATGGTAGAAAATGAATGTGAAGACCCCAGCCAGGAGACTATTACGTTCCTCTATAAATTCATTAAGGGAGCTTGTCCTAAAAGCTATGGCTTTAATGCAGCAAGGCTTGCTAATCTCCCAGAGGAAGTTATTCAAAAGGGACATAGAAAAGCAAGAGAATTTGAGAAGATGAATCAGTCACTACGATTATTTCGGTAACTAAC... | GTGCGCCTAGGACATATGGTATGTGCAAATTGTTTTTTTCCACAAATTCGGTTTTTTGAGAGGGCACTTCTCTTGCTAGCACATGTATCGCTAATATTTTTCTTTCTTAAGGCATGCATGGTAGAAAATGAATGTGAAGACCCCAGCCAGGAGACTATTACGTTCCTCTATAAATTCATTAAGGGAGCTTGTCCTAAAAGCTATGGCTTTAATGCAGCAAGGCTTGCTAATCTCCCAGAGGAAGTTATTCAAAAGGGACATAGAAAAGCAAGAGAATTTGAGAAGATGAATCAGTCACTACGATTATTTCGGTAACTAAC... | pathogenic | 37,442 |
Considering the variant on chromosome 2, location 47832332, involving gene FBXO11 (F-box protein 11), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | benign | GAGGGAAAGAAAGAAACTCAGCTAAGTTAAAAGGCAATGGATAGGGATTCTCGCATGGCAAGAATTCAAGCTACAATATCCATAAGGCGTTCTTTAAAAAAAACAAACAAAAAATGGCTGGATGACAAAACCTAGCCATACCAAGAATGAATCAAAATTTAAATTCAAGAATGGAGAAACGATGATAAAAGAACTAATGATAAATAAATAAAGAATAAATATAGACCAATAACTGTAGGAATGCAAATATTTTAAACCTTTGCAAAATAAAAATAAAAATGATGGGGTGGAGATAGATTGAAATACTTTATAAATCTTAA... | GAGGGAAAGAAAGAAACTCAGCTAAGTTAAAAGGCAATGGATAGGGATTCTCGCATGGCAAGAATTCAAGCTACAATATCCATAAGGCGTTCTTTAAAAAAAACAAACAAAAAATGGCTGGATGACAAAACCTAGCCATACCAAGAATGAATCAAAATTTAAATTCAAGAATGGAGAAACGATGATAAAAGAACTAATGATAAATAAATAAAGAATAAATATAGACCAATAACTGTAGGAATGCAAATATTTTAAACCTTTGCAAAATAAAAATAAAAATGATGGGGTGGAGATAGATTGAAATACTTTATAAATCTTAA... | benign | 37,460 |
Benign or pathogenic: chromosome 2, position 47838940, gene FBXO11 (F-box protein 11) variant? Disease(s) if pathogenic? | pathogenic; ['Intellectual_developmental_disorder_with_dysmorphic_facies_and_behavioral_abnormalities'] | TCTTGTCTTATTTTTTGATTTTTTTTTGTAGAAATGAGGTCCCAGTATGTTGCCCAGGCTGGTCTCAAACTCCTGGGCTCAAGTAATCTGCCCACTTCAGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCACTTCGCCTAGCCTAAAAAGATAATTTTCAGTAAAAATACTTTGAACTTAATTTGTCCTATATCTTCAGTCCATTTATATCCTATCAAGCACAATGAAATCTTCAAACTGGAGTAATGGCTAACTATTATCATTTCTGGTACAGTGAGCAATGCTGTTTTGTTCTGCTGCTCTTCATTCTCATTTCT... | TCTTGTCTTATTTTTTGATTTTTTTTTGTAGAAATGAGGTCCCAGTATGTTGCCCAGGCTGGTCTCAAACTCCTGGGCTCAAGTAATCTGCCCACTTCAGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCACTTCGCCTAGCCTAAAAAGATAATTTTCAGTAAAAATACTTTGAACTTAATTTGTCCTATATCTTCAGTCCATTTATATCCTATCAAGCACAATGAAATCTTCAAACTGGAGTAATGGCTAACTATTATCATTTCTGGTACAGTGAGCAATGCTGTTTTGTTCTGCTGCTCTTCATTCTCATTTCT... | pathogenic | 37,464 |
Chromosome 2, position 47905497, gene FBXO11 (F-box protein 11): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | benign | AAAATTGACACTGGCATGTGACTGCCAACAACCAAGTCACCTTACCTCACATAGAAATGAAAATAGACCTCAGTAGCTAATAATTTTGAACAAATGAATAAAAGTGTCCAAGACAAAATTACATCAACTAAGTTCGAAATTACACACAAACCTTGAAATGAAAATTCAGAGTAAACATTTTAAAATACACAAGGAGACTAAATTGTTTGACACGTTTTGATCCAATGCTAATATTATTAACCAATTACCACATCTTGAAAAAGCTTACTGTAGCAATAGAATCCTTAATATTAAAGGCTAGAATTTCAATCGAGTGTCAT... | AAAATTGACACTGGCATGTGACTGCCAACAACCAAGTCACCTTACCTCACATAGAAATGAAAATAGACCTCAGTAGCTAATAATTTTGAACAAATGAATAAAAGTGTCCAAGACAAAATTACATCAACTAAGTTCGAAATTACACACAAACCTTGAAATGAAAATTCAGAGTAAACATTTTAAAATACACAAGGAGACTAAATTGTTTGACACGTTTTGATCCAATGCTAATATTATTAACCAATTACCACATCTTGAAAAAGCTTACTGTAGCAATAGAATCCTTAATATTAAAGGCTAGAATTTCAATCGAGTGTCAT... | benign | 37,469 |
Mutation at chromosome 2, position 47905529, within FBXO11 (F-box protein 11): benign or pathogenic? If pathogenic, indicate the disease(s). | benign | CAAGTCACCTTACCTCACATAGAAATGAAAATAGACCTCAGTAGCTAATAATTTTGAACAAATGAATAAAAGTGTCCAAGACAAAATTACATCAACTAAGTTCGAAATTACACACAAACCTTGAAATGAAAATTCAGAGTAAACATTTTAAAATACACAAGGAGACTAAATTGTTTGACACGTTTTGATCCAATGCTAATATTATTAACCAATTACCACATCTTGAAAAAGCTTACTGTAGCAATAGAATCCTTAATATTAAAGGCTAGAATTTCAATCGAGTGTCATTGTTTTCTCAAACATATTTGTCAGCTGTACTG... | CAAGTCACCTTACCTCACATAGAAATGAAAATAGACCTCAGTAGCTAATAATTTTGAACAAATGAATAAAAGTGTCCAAGACAAAATTACATCAACTAAGTTCGAAATTACACACAAACCTTGAAATGAAAATTCAGAGTAAACATTTTAAAATACACAAGGAGACTAAATTGTTTGACACGTTTTGATCCAATGCTAATATTATTAACCAATTACCACATCTTGAAAAAGCTTACTGTAGCAATAGAATCCTTAATATTAAAGGCTAGAATTTCAATCGAGTGTCATTGTTTTCTCAAACATATTTGTCAGCTGTACTG... | benign | 37,470 |
Chromosome 2, position 47905551, gene FBXO11: Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | benign | AAATGAAAATAGACCTCAGTAGCTAATAATTTTGAACAAATGAATAAAAGTGTCCAAGACAAAATTACATCAACTAAGTTCGAAATTACACACAAACCTTGAAATGAAAATTCAGAGTAAACATTTTAAAATACACAAGGAGACTAAATTGTTTGACACGTTTTGATCCAATGCTAATATTATTAACCAATTACCACATCTTGAAAAAGCTTACTGTAGCAATAGAATCCTTAATATTAAAGGCTAGAATTTCAATCGAGTGTCATTGTTTTCTCAAACATATTTGTCAGCTGTACTGCATACAGTGGCAATTCTGGAAG... | AAATGAAAATAGACCTCAGTAGCTAATAATTTTGAACAAATGAATAAAAGTGTCCAAGACAAAATTACATCAACTAAGTTCGAAATTACACACAAACCTTGAAATGAAAATTCAGAGTAAACATTTTAAAATACACAAGGAGACTAAATTGTTTGACACGTTTTGATCCAATGCTAATATTATTAACCAATTACCACATCTTGAAAAAGCTTACTGTAGCAATAGAATCCTTAATATTAAAGGCTAGAATTTCAATCGAGTGTCATTGTTTTCTCAAACATATTTGTCAGCTGTACTGCATACAGTGGCAATTCTGGAAG... | benign | 37,474 |
Regarding the variant at chromosome 2 and position 47905551, affecting gene FBXO11: benign or pathogenic? If pathogenic, what are the associated illness(es)? | benign | AAATGAAAATAGACCTCAGTAGCTAATAATTTTGAACAAATGAATAAAAGTGTCCAAGACAAAATTACATCAACTAAGTTCGAAATTACACACAAACCTTGAAATGAAAATTCAGAGTAAACATTTTAAAATACACAAGGAGACTAAATTGTTTGACACGTTTTGATCCAATGCTAATATTATTAACCAATTACCACATCTTGAAAAAGCTTACTGTAGCAATAGAATCCTTAATATTAAAGGCTAGAATTTCAATCGAGTGTCATTGTTTTCTCAAACATATTTGTCAGCTGTACTGCATACAGTGGCAATTCTGGAAG... | AAATGAAAATAGACCTCAGTAGCTAATAATTTTGAACAAATGAATAAAAGTGTCCAAGACAAAATTACATCAACTAAGTTCGAAATTACACACAAACCTTGAAATGAAAATTCAGAGTAAACATTTTAAAATACACAAGGAGACTAAATTGTTTGACACGTTTTGATCCAATGCTAATATTATTAACCAATTACCACATCTTGAAAAAGCTTACTGTAGCAATAGAATCCTTAATATTAAAGGCTAGAATTTCAATCGAGTGTCATTGTTTTCTCAAACATATTTGTCAGCTGTACTGCATACAGTGGCAATTCTGGAAG... | benign | 37,475 |
Clinically, how would you classify the variant at chromosome 2, position 47905586, gene FBXO11: benign or pathogenic? If pathogenic, specify the associated illness(es). | benign | ACAAATGAATAAAAGTGTCCAAGACAAAATTACATCAACTAAGTTCGAAATTACACACAAACCTTGAAATGAAAATTCAGAGTAAACATTTTAAAATACACAAGGAGACTAAATTGTTTGACACGTTTTGATCCAATGCTAATATTATTAACCAATTACCACATCTTGAAAAAGCTTACTGTAGCAATAGAATCCTTAATATTAAAGGCTAGAATTTCAATCGAGTGTCATTGTTTTCTCAAACATATTTGTCAGCTGTACTGCATACAGTGGCAATTCTGGAAGAAGAACATTATTTGAACGGAACATCAGAAGAACAC... | ACAAATGAATAAAAGTGTCCAAGACAAAATTACATCAACTAAGTTCGAAATTACACACAAACCTTGAAATGAAAATTCAGAGTAAACATTTTAAAATACACAAGGAGACTAAATTGTTTGACACGTTTTGATCCAATGCTAATATTATTAACCAATTACCACATCTTGAAAAAGCTTACTGTAGCAATAGAATCCTTAATATTAAAGGCTAGAATTTCAATCGAGTGTCATTGTTTTCTCAAACATATTTGTCAGCTGTACTGCATACAGTGGCAATTCTGGAAGAAGAACATTATTTGAACGGAACATCAGAAGAACAC... | benign | 37,478 |
Considering the variant on chromosome 2, location 47905586, involving gene FBXO11, would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | benign | ACAAATGAATAAAAGTGTCCAAGACAAAATTACATCAACTAAGTTCGAAATTACACACAAACCTTGAAATGAAAATTCAGAGTAAACATTTTAAAATACACAAGGAGACTAAATTGTTTGACACGTTTTGATCCAATGCTAATATTATTAACCAATTACCACATCTTGAAAAAGCTTACTGTAGCAATAGAATCCTTAATATTAAAGGCTAGAATTTCAATCGAGTGTCATTGTTTTCTCAAACATATTTGTCAGCTGTACTGCATACAGTGGCAATTCTGGAAGAAGAACATTATTTGAACGGAACATCAGAAGAACAC... | ACAAATGAATAAAAGTGTCCAAGACAAAATTACATCAACTAAGTTCGAAATTACACACAAACCTTGAAATGAAAATTCAGAGTAAACATTTTAAAATACACAAGGAGACTAAATTGTTTGACACGTTTTGATCCAATGCTAATATTATTAACCAATTACCACATCTTGAAAAAGCTTACTGTAGCAATAGAATCCTTAATATTAAAGGCTAGAATTTCAATCGAGTGTCATTGTTTTCTCAAACATATTTGTCAGCTGTACTGCATACAGTGGCAATTCTGGAAGAAGAACATTATTTGAACGGAACATCAGAAGAACAC... | benign | 37,479 |
Chromosome 2, position 47905613, gene FBXO11: Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | benign | AATTACATCAACTAAGTTCGAAATTACACACAAACCTTGAAATGAAAATTCAGAGTAAACATTTTAAAATACACAAGGAGACTAAATTGTTTGACACGTTTTGATCCAATGCTAATATTATTAACCAATTACCACATCTTGAAAAAGCTTACTGTAGCAATAGAATCCTTAATATTAAAGGCTAGAATTTCAATCGAGTGTCATTGTTTTCTCAAACATATTTGTCAGCTGTACTGCATACAGTGGCAATTCTGGAAGAAGAACATTATTTGAACGGAACATCAGAAGAACACTGATAGACATATGTGAAAGGAAATAAT... | AATTACATCAACTAAGTTCGAAATTACACACAAACCTTGAAATGAAAATTCAGAGTAAACATTTTAAAATACACAAGGAGACTAAATTGTTTGACACGTTTTGATCCAATGCTAATATTATTAACCAATTACCACATCTTGAAAAAGCTTACTGTAGCAATAGAATCCTTAATATTAAAGGCTAGAATTTCAATCGAGTGTCATTGTTTTCTCAAACATATTTGTCAGCTGTACTGCATACAGTGGCAATTCTGGAAGAAGAACATTATTTGAACGGAACATCAGAAGAACACTGATAGACATATGTGAAAGGAAATAAT... | benign | 37,480 |
A genetic variant on chromosome 2, position 47905628, affects the gene FBXO11. Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | benign | GTTCGAAATTACACACAAACCTTGAAATGAAAATTCAGAGTAAACATTTTAAAATACACAAGGAGACTAAATTGTTTGACACGTTTTGATCCAATGCTAATATTATTAACCAATTACCACATCTTGAAAAAGCTTACTGTAGCAATAGAATCCTTAATATTAAAGGCTAGAATTTCAATCGAGTGTCATTGTTTTCTCAAACATATTTGTCAGCTGTACTGCATACAGTGGCAATTCTGGAAGAAGAACATTATTTGAACGGAACATCAGAAGAACACTGATAGACATATGTGAAAGGAAATAATGAGACTACAGATTTT... | GTTCGAAATTACACACAAACCTTGAAATGAAAATTCAGAGTAAACATTTTAAAATACACAAGGAGACTAAATTGTTTGACACGTTTTGATCCAATGCTAATATTATTAACCAATTACCACATCTTGAAAAAGCTTACTGTAGCAATAGAATCCTTAATATTAAAGGCTAGAATTTCAATCGAGTGTCATTGTTTTCTCAAACATATTTGTCAGCTGTACTGCATACAGTGGCAATTCTGGAAGAAGAACATTATTTGAACGGAACATCAGAAGAACACTGATAGACATATGTGAAAGGAAATAATGAGACTACAGATTTT... | benign | 37,481 |
Variant on chromosome 2, at position 47905641, affecting FBXO11: is it benign or pathogenic? If pathogenic, specify the associated disease(s). | benign | CACAAACCTTGAAATGAAAATTCAGAGTAAACATTTTAAAATACACAAGGAGACTAAATTGTTTGACACGTTTTGATCCAATGCTAATATTATTAACCAATTACCACATCTTGAAAAAGCTTACTGTAGCAATAGAATCCTTAATATTAAAGGCTAGAATTTCAATCGAGTGTCATTGTTTTCTCAAACATATTTGTCAGCTGTACTGCATACAGTGGCAATTCTGGAAGAAGAACATTATTTGAACGGAACATCAGAAGAACACTGATAGACATATGTGAAAGGAAATAATGAGACTACAGATTTTTAAAATTTACCCC... | CACAAACCTTGAAATGAAAATTCAGAGTAAACATTTTAAAATACACAAGGAGACTAAATTGTTTGACACGTTTTGATCCAATGCTAATATTATTAACCAATTACCACATCTTGAAAAAGCTTACTGTAGCAATAGAATCCTTAATATTAAAGGCTAGAATTTCAATCGAGTGTCATTGTTTTCTCAAACATATTTGTCAGCTGTACTGCATACAGTGGCAATTCTGGAAGAAGAACATTATTTGAACGGAACATCAGAAGAACACTGATAGACATATGTGAAAGGAAATAATGAGACTACAGATTTTTAAAATTTACCCC... | benign | 37,482 |
Regarding the variant at chromosome 2 and position 50054946, affecting gene NRXN1 (neurexin 1): benign or pathogenic? If pathogenic, what are the associated illness(es)? | benign | AGTGCTGAGCTTAAACAGACAAGGTTTTCAAATATTTCATTAACTTGTTCATTTAAACTAAAAAGTGAAAATCCTATGTAATTAGCAGACGATCTACTCAGCTTGGGCCAGAGGAGGGTTATGGAATCAAGACTATCATTTAGCATCTAACAAACCAAAACAAAATCTTTTGTAAAAGTCCACAAACCTCTAATGAACAACATACACACATTTCATATTCAAACGGAATGCATTATGTTAAGCTAGTTTCAAAGGAAGCTGTAGTGCCTAAGATCAGAAAAATGTTCCAATTTAGAAAAGACGCATATGCAGAAAAGCCC... | AGTGCTGAGCTTAAACAGACAAGGTTTTCAAATATTTCATTAACTTGTTCATTTAAACTAAAAAGTGAAAATCCTATGTAATTAGCAGACGATCTACTCAGCTTGGGCCAGAGGAGGGTTATGGAATCAAGACTATCATTTAGCATCTAACAAACCAAAACAAAATCTTTTGTAAAAGTCCACAAACCTCTAATGAACAACATACACACATTTCATATTCAAACGGAATGCATTATGTTAAGCTAGTTTCAAAGGAAGCTGTAGTGCCTAAGATCAGAAAAATGTTCCAATTTAGAAAAGACGCATATGCAGAAAAGCCC... | benign | 37,579 |
Is the genetic mutation found on chromosome 2 at position 50346870, within the gene NRXN1 (neurexin 1), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | benign | GCATATGAGATTATTAGCCAAGTGCTTCCCACTGGCACAATTAGGTGTTCCACCTGCTCCATACACCCATCTGCCTCACCACACCCACCTACCCACACTCTGCCCTTCCTGCACCCTGGCTTGCCTCCGTCCCTCAGGACTCACACAATTCTGCACAAAGGCAGGGCAGTGGTTGAGAACTGCACCCAGGTAAAGGGAACAACAAGCTCCTAGAATACTGTGGGCTTGTGGTGAGATCACCAGAAACTCCTTATTCTTTCAGAGAGATCTAATCTCTGTTACTTATAAAAATAATCCCTAGCTTGGGACATCACTCTCGT... | GCATATGAGATTATTAGCCAAGTGCTTCCCACTGGCACAATTAGGTGTTCCACCTGCTCCATACACCCATCTGCCTCACCACACCCACCTACCCACACTCTGCCCTTCCTGCACCCTGGCTTGCCTCCGTCCCTCAGGACTCACACAATTCTGCACAAAGGCAGGGCAGTGGTTGAGAACTGCACCCAGGTAAAGGGAACAACAAGCTCCTAGAATACTGTGGGCTTGTGGTGAGATCACCAGAAACTCCTTATTCTTTCAGAGAGATCTAATCTCTGTTACTTATAAAAATAATCCCTAGCTTGGGACATCACTCTCGT... | benign | 37,594 |
Evaluate this variant at chromosome 2, position 50346870, gene NRXN1 (neurexin 1): benign or pathogenic? If pathogenic, what are the disease connection(s)? | benign | GCATATGAGATTATTAGCCAAGTGCTTCCCACTGGCACAATTAGGTGTTCCACCTGCTCCATACACCCATCTGCCTCACCACACCCACCTACCCACACTCTGCCCTTCCTGCACCCTGGCTTGCCTCCGTCCCTCAGGACTCACACAATTCTGCACAAAGGCAGGGCAGTGGTTGAGAACTGCACCCAGGTAAAGGGAACAACAAGCTCCTAGAATACTGTGGGCTTGTGGTGAGATCACCAGAAACTCCTTATTCTTTCAGAGAGATCTAATCTCTGTTACTTATAAAAATAATCCCTAGCTTGGGACATCACTCTCGT... | GCATATGAGATTATTAGCCAAGTGCTTCCCACTGGCACAATTAGGTGTTCCACCTGCTCCATACACCCATCTGCCTCACCACACCCACCTACCCACACTCTGCCCTTCCTGCACCCTGGCTTGCCTCCGTCCCTCAGGACTCACACAATTCTGCACAAAGGCAGGGCAGTGGTTGAGAACTGCACCCAGGTAAAGGGAACAACAAGCTCCTAGAATACTGTGGGCTTGTGGTGAGATCACCAGAAACTCCTTATTCTTTCAGAGAGATCTAATCTCTGTTACTTATAAAAATAATCCCTAGCTTGGGACATCACTCTCGT... | benign | 37,595 |
For chromosome 2, position 50346870, gene NRXN1 (neurexin 1): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | benign | GCATATGAGATTATTAGCCAAGTGCTTCCCACTGGCACAATTAGGTGTTCCACCTGCTCCATACACCCATCTGCCTCACCACACCCACCTACCCACACTCTGCCCTTCCTGCACCCTGGCTTGCCTCCGTCCCTCAGGACTCACACAATTCTGCACAAAGGCAGGGCAGTGGTTGAGAACTGCACCCAGGTAAAGGGAACAACAAGCTCCTAGAATACTGTGGGCTTGTGGTGAGATCACCAGAAACTCCTTATTCTTTCAGAGAGATCTAATCTCTGTTACTTATAAAAATAATCCCTAGCTTGGGACATCACTCTCGT... | GCATATGAGATTATTAGCCAAGTGCTTCCCACTGGCACAATTAGGTGTTCCACCTGCTCCATACACCCATCTGCCTCACCACACCCACCTACCCACACTCTGCCCTTCCTGCACCCTGGCTTGCCTCCGTCCCTCAGGACTCACACAATTCTGCACAAAGGCAGGGCAGTGGTTGAGAACTGCACCCAGGTAAAGGGAACAACAAGCTCCTAGAATACTGTGGGCTTGTGGTGAGATCACCAGAAACTCCTTATTCTTTCAGAGAGATCTAATCTCTGTTACTTATAAAAATAATCCCTAGCTTGGGACATCACTCTCGT... | benign | 37,596 |
Is the chromosome 2, position 50346870 variant in NRXN1 (neurexin 1) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | benign | GCATATGAGATTATTAGCCAAGTGCTTCCCACTGGCACAATTAGGTGTTCCACCTGCTCCATACACCCATCTGCCTCACCACACCCACCTACCCACACTCTGCCCTTCCTGCACCCTGGCTTGCCTCCGTCCCTCAGGACTCACACAATTCTGCACAAAGGCAGGGCAGTGGTTGAGAACTGCACCCAGGTAAAGGGAACAACAAGCTCCTAGAATACTGTGGGCTTGTGGTGAGATCACCAGAAACTCCTTATTCTTTCAGAGAGATCTAATCTCTGTTACTTATAAAAATAATCCCTAGCTTGGGACATCACTCTCGT... | GCATATGAGATTATTAGCCAAGTGCTTCCCACTGGCACAATTAGGTGTTCCACCTGCTCCATACACCCATCTGCCTCACCACACCCACCTACCCACACTCTGCCCTTCCTGCACCCTGGCTTGCCTCCGTCCCTCAGGACTCACACAATTCTGCACAAAGGCAGGGCAGTGGTTGAGAACTGCACCCAGGTAAAGGGAACAACAAGCTCCTAGAATACTGTGGGCTTGTGGTGAGATCACCAGAAACTCCTTATTCTTTCAGAGAGATCTAATCTCTGTTACTTATAAAAATAATCCCTAGCTTGGGACATCACTCTCGT... | benign | 37,597 |
Is the genetic change at chromosome 2, position 50346870, within gene NRXN1 (neurexin 1) benign or pathogenic? Name the disease(s) if pathogenic. | benign | GCATATGAGATTATTAGCCAAGTGCTTCCCACTGGCACAATTAGGTGTTCCACCTGCTCCATACACCCATCTGCCTCACCACACCCACCTACCCACACTCTGCCCTTCCTGCACCCTGGCTTGCCTCCGTCCCTCAGGACTCACACAATTCTGCACAAAGGCAGGGCAGTGGTTGAGAACTGCACCCAGGTAAAGGGAACAACAAGCTCCTAGAATACTGTGGGCTTGTGGTGAGATCACCAGAAACTCCTTATTCTTTCAGAGAGATCTAATCTCTGTTACTTATAAAAATAATCCCTAGCTTGGGACATCACTCTCGT... | GCATATGAGATTATTAGCCAAGTGCTTCCCACTGGCACAATTAGGTGTTCCACCTGCTCCATACACCCATCTGCCTCACCACACCCACCTACCCACACTCTGCCCTTCCTGCACCCTGGCTTGCCTCCGTCCCTCAGGACTCACACAATTCTGCACAAAGGCAGGGCAGTGGTTGAGAACTGCACCCAGGTAAAGGGAACAACAAGCTCCTAGAATACTGTGGGCTTGTGGTGAGATCACCAGAAACTCCTTATTCTTTCAGAGAGATCTAATCTCTGTTACTTATAAAAATAATCCCTAGCTTGGGACATCACTCTCGT... | benign | 37,598 |
Gene NRXN1 (neurexin 1) variant at chromosome position 50346870 on chromosome 2: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | benign | GCATATGAGATTATTAGCCAAGTGCTTCCCACTGGCACAATTAGGTGTTCCACCTGCTCCATACACCCATCTGCCTCACCACACCCACCTACCCACACTCTGCCCTTCCTGCACCCTGGCTTGCCTCCGTCCCTCAGGACTCACACAATTCTGCACAAAGGCAGGGCAGTGGTTGAGAACTGCACCCAGGTAAAGGGAACAACAAGCTCCTAGAATACTGTGGGCTTGTGGTGAGATCACCAGAAACTCCTTATTCTTTCAGAGAGATCTAATCTCTGTTACTTATAAAAATAATCCCTAGCTTGGGACATCACTCTCGT... | GCATATGAGATTATTAGCCAAGTGCTTCCCACTGGCACAATTAGGTGTTCCACCTGCTCCATACACCCATCTGCCTCACCACACCCACCTACCCACACTCTGCCCTTCCTGCACCCTGGCTTGCCTCCGTCCCTCAGGACTCACACAATTCTGCACAAAGGCAGGGCAGTGGTTGAGAACTGCACCCAGGTAAAGGGAACAACAAGCTCCTAGAATACTGTGGGCTTGTGGTGAGATCACCAGAAACTCCTTATTCTTTCAGAGAGATCTAATCTCTGTTACTTATAAAAATAATCCCTAGCTTGGGACATCACTCTCGT... | benign | 37,599 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 2, position 50346870, gene NRXN1 (neurexin 1). What disease(s) is it linked to if pathogenic? | benign | GCATATGAGATTATTAGCCAAGTGCTTCCCACTGGCACAATTAGGTGTTCCACCTGCTCCATACACCCATCTGCCTCACCACACCCACCTACCCACACTCTGCCCTTCCTGCACCCTGGCTTGCCTCCGTCCCTCAGGACTCACACAATTCTGCACAAAGGCAGGGCAGTGGTTGAGAACTGCACCCAGGTAAAGGGAACAACAAGCTCCTAGAATACTGTGGGCTTGTGGTGAGATCACCAGAAACTCCTTATTCTTTCAGAGAGATCTAATCTCTGTTACTTATAAAAATAATCCCTAGCTTGGGACATCACTCTCGT... | GCATATGAGATTATTAGCCAAGTGCTTCCCACTGGCACAATTAGGTGTTCCACCTGCTCCATACACCCATCTGCCTCACCACACCCACCTACCCACACTCTGCCCTTCCTGCACCCTGGCTTGCCTCCGTCCCTCAGGACTCACACAATTCTGCACAAAGGCAGGGCAGTGGTTGAGAACTGCACCCAGGTAAAGGGAACAACAAGCTCCTAGAATACTGTGGGCTTGTGGTGAGATCACCAGAAACTCCTTATTCTTTCAGAGAGATCTAATCTCTGTTACTTATAAAAATAATCCCTAGCTTGGGACATCACTCTCGT... | benign | 37,600 |
Regarding the variant found on chromosome 2 at position 50346896 in gene NRXN1 (neurexin 1): is it benign or pathogenic? If pathogenic, identify the disease(s). | benign | TCCCACTGGCACAATTAGGTGTTCCACCTGCTCCATACACCCATCTGCCTCACCACACCCACCTACCCACACTCTGCCCTTCCTGCACCCTGGCTTGCCTCCGTCCCTCAGGACTCACACAATTCTGCACAAAGGCAGGGCAGTGGTTGAGAACTGCACCCAGGTAAAGGGAACAACAAGCTCCTAGAATACTGTGGGCTTGTGGTGAGATCACCAGAAACTCCTTATTCTTTCAGAGAGATCTAATCTCTGTTACTTATAAAAATAATCCCTAGCTTGGGACATCACTCTCGTCTCCATACTAGACACTCTTAACTGGA... | TCCCACTGGCACAATTAGGTGTTCCACCTGCTCCATACACCCATCTGCCTCACCACACCCACCTACCCACACTCTGCCCTTCCTGCACCCTGGCTTGCCTCCGTCCCTCAGGACTCACACAATTCTGCACAAAGGCAGGGCAGTGGTTGAGAACTGCACCCAGGTAAAGGGAACAACAAGCTCCTAGAATACTGTGGGCTTGTGGTGAGATCACCAGAAACTCCTTATTCTTTCAGAGAGATCTAATCTCTGTTACTTATAAAAATAATCCCTAGCTTGGGACATCACTCTCGTCTCCATACTAGACACTCTTAACTGGA... | benign | 37,601 |
Chromosome 2, position 50496108, gene NRXN1 (neurexin 1): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | benign | CTCCTATTACCTTCACTTCCATTTGTTAATGAAAAATAAGCAGATATTTACTTCTCAGGAGACAGTGTCCTAACTATCTGAAGAAATACAATCCATTGTCTCACACGGCTTCTCTGGACCCTCAATGTGTAGGGCTGTACATGCCACATACTTCAACCAATTATAAACTGCTTTTTTTTTAGCCATTTTAATTTCCAACAGAGTATCCCTAATTTCCAGTGAAGTTCACTTATACTTACTGACGTCTCACCTACACAAACAGGGCACTTTTTGCTTTAGCTTTGGTGACTCGATCAGCACACTGGATTTTACAATCTCTC... | CTCCTATTACCTTCACTTCCATTTGTTAATGAAAAATAAGCAGATATTTACTTCTCAGGAGACAGTGTCCTAACTATCTGAAGAAATACAATCCATTGTCTCACACGGCTTCTCTGGACCCTCAATGTGTAGGGCTGTACATGCCACATACTTCAACCAATTATAAACTGCTTTTTTTTTAGCCATTTTAATTTCCAACAGAGTATCCCTAATTTCCAGTGAAGTTCACTTATACTTACTGACGTCTCACCTACACAAACAGGGCACTTTTTGCTTTAGCTTTGGTGACTCGATCAGCACACTGGATTTTACAATCTCTC... | benign | 37,628 |
Variant in gene NRXN1 (neurexin 1), located at chromosome 2 position 50497419: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Inborn_genetic_diseases', 'Pitt-Hopkins-like_syndrome_2'] | TGTGTGTGTGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTGGGATGGGGGATAGAATTCACTGTTGGAGACACAGGGTTTCTAAGCCAGGCTCAAACTCCTGTTGGTCAGGGACTTAGGATCCAGGAAACCTTACCAAGGAAAGAAAACTAATAAGCTCTATAATAAGCTCCTATATATCTGGTTCCCTGACTCCAAATCAATTGAAAACTGTTGGGACTTAAGTAACTTACAAATGCCTTTTTAATATCAAGACCAATATTATATTTTTCTCACTTTTTACATTTTAATCATGCATGCTTCCTTAGGT... | TGTGTGTGTGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTGGGATGGGGGATAGAATTCACTGTTGGAGACACAGGGTTTCTAAGCCAGGCTCAAACTCCTGTTGGTCAGGGACTTAGGATCCAGGAAACCTTACCAAGGAAAGAAAACTAATAAGCTCTATAATAAGCTCCTATATATCTGGTTCCCTGACTCCAAATCAATTGAAAACTGTTGGGACTTAAGTAACTTACAAATGCCTTTTTAATATCAAGACCAATATTATATTTTTCTCACTTTTTACATTTTAATCATGCATGCTTCCTTAGGT... | pathogenic | 37,631 |
Evaluate the clinical significance of the mutation at chromosome 2, position 50497719 in gene NRXN1 (neurexin 1): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | benign | TCATGCATGCTTCCTTAGGTGCTGCATTTTTTGAGCTGTTATTAAAAATACATAGGTTCCTACCACATTAAAGGGGAGCAGAGGCTTGTGTGTTGTATTGTTAATTATGTGCTGAAAATGAAATTCTGGTCAGTCTTTGCAGAAGGTACAAACACACCCCTAAGCAAAGGATTTTCCATGTGAAGGGAGACCGTGTGGTGCAAGGCTCGTTGCTCTGACTTAACATGCACTTACTCTTGAGGTCTAAGTTCCTGGCTCCGGCGGTGATTTGCGTTGTGATTTTTGTGTCAATCTTTACAGTGTGGAGGTTGCTGGTGTCC... | TCATGCATGCTTCCTTAGGTGCTGCATTTTTTGAGCTGTTATTAAAAATACATAGGTTCCTACCACATTAAAGGGGAGCAGAGGCTTGTGTGTTGTATTGTTAATTATGTGCTGAAAATGAAATTCTGGTCAGTCTTTGCAGAAGGTACAAACACACCCCTAAGCAAAGGATTTTCCATGTGAAGGGAGACCGTGTGGTGCAAGGCTCGTTGCTCTGACTTAACATGCACTTACTCTTGAGGTCTAAGTTCCTGGCTCCGGCGGTGATTTGCGTTGTGATTTTTGTGTCAATCTTTACAGTGTGGAGGTTGCTGGTGTCC... | benign | 37,639 |
Variant at chromosome position 50531449, chromosome 2, gene NRXN1 (neurexin 1): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | benign | TCCCTTTCTTATATTTGCTTTATATAAAAGTAGCTACTATAAGAACAGAACGTCTTGTATGGGTAACACAAACTGTAATTATAGTGGTTATTTTTAAAAGACTGTAGGATGTTTCATATTTATTTTATATGTATTTGTTGGTTTGGGTTTTATTATTTAATGCCTTTGGAGAACATAAAAAAATAAACCTAGATTCTGTTTCCATATAGCTGAGTTTGTCATGTGTCGTCAACCGCATCAGAAAAGTGGTTGCAAACAGCCAAGGACCAGCACCTACACACCTCTTTCTACAGAATGCTTTGCTGTTCGAAAATTCTCAT... | TCCCTTTCTTATATTTGCTTTATATAAAAGTAGCTACTATAAGAACAGAACGTCTTGTATGGGTAACACAAACTGTAATTATAGTGGTTATTTTTAAAAGACTGTAGGATGTTTCATATTTATTTTATATGTATTTGTTGGTTTGGGTTTTATTATTTAATGCCTTTGGAGAACATAAAAAAATAAACCTAGATTCTGTTTCCATATAGCTGAGTTTGTCATGTGTCGTCAACCGCATCAGAAAAGTGGTTGCAAACAGCCAAGGACCAGCACCTACACACCTCTTTCTACAGAATGCTTTGCTGTTCGAAAATTCTCAT... | benign | 37,661 |
Considering the variant on chromosome 2, location 50620014, involving gene NRXN1 (neurexin 1), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | benign | TGAACTCAAGGATTCCCTGCAGGAATTACTATTATTATTATTTGGATGCCCAAGAGTTCTTTAGTTAGATTCCCATTTCTGCTAGAGTTCCCTCGATTCCCCTTCCTTTTTCCAATCTAAGCAGGATTACTCTTCTCTGTATAAAGCAGGATGTAGGGACTGATTATACCTGGCCTGGCTCACAGTGAAAATGAGGAAGTTGGTACAGGTGATTGGGGATGCGGCTCTGCCCTCCACTTTCCATCCCTAGAATGGAGTTTCAGAAATCTTCTAAAAATATCTAATTATTCTTTTACCATACCTGATATGCTTTCTCCATC... | TGAACTCAAGGATTCCCTGCAGGAATTACTATTATTATTATTTGGATGCCCAAGAGTTCTTTAGTTAGATTCCCATTTCTGCTAGAGTTCCCTCGATTCCCCTTCCTTTTTCCAATCTAAGCAGGATTACTCTTCTCTGTATAAAGCAGGATGTAGGGACTGATTATACCTGGCCTGGCTCACAGTGAAAATGAGGAAGTTGGTACAGGTGATTGGGGATGCGGCTCTGCCCTCCACTTTCCATCCCTAGAATGGAGTTTCAGAAATCTTCTAAAAATATCTAATTATTCTTTTACCATACCTGATATGCTTTCTCCATC... | benign | 37,687 |
Evaluate the clinical significance of the mutation at chromosome 2, position 51026372 in gene NRXN1 (neurexin 1): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Pitt-Hopkins-like_syndrome_2'] | CATAAATTAGTTTTGTTCTATCAGCCATTTTTACGTTTTTTTTTCCCTTGAATATAACACCTGAACCTGAAAATAATCTCAACCCGAATGAACTGGAAATCTTATTTGCCAGACGTCAAGAAAAAGGGCTTGGGAACAAATAAAAGTGTTTATGCTCTTACCCAGGTTCTGCCACTAACCTGGTCATCACACATAACCTTTCCTGGATTCTCTAACAATACATAAATAAATAAAACTTGCTAGGCTCAAACACAAAGCCAGGATGAAATTGAGCTCATTCAATAAAAATATTCTGGAAATTCATAGGTGCATAAGTTGTT... | CATAAATTAGTTTTGTTCTATCAGCCATTTTTACGTTTTTTTTTCCCTTGAATATAACACCTGAACCTGAAAATAATCTCAACCCGAATGAACTGGAAATCTTATTTGCCAGACGTCAAGAAAAAGGGCTTGGGAACAAATAAAAGTGTTTATGCTCTTACCCAGGTTCTGCCACTAACCTGGTCATCACACATAACCTTTCCTGGATTCTCTAACAATACATAAATAAATAAAACTTGCTAGGCTCAAACACAAAGCCAGGATGAAATTGAGCTCATTCAATAAAAATATTCTGGAAATTCATAGGTGCATAAGTTGTT... | pathogenic | 37,714 |
Located at chromosome 2 position 51026399, the variant affecting gene NRXN1 (neurexin 1)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Pitt-Hopkins-like_syndrome_2'] | TTTTTACGTTTTTTTTTCCCTTGAATATAACACCTGAACCTGAAAATAATCTCAACCCGAATGAACTGGAAATCTTATTTGCCAGACGTCAAGAAAAAGGGCTTGGGAACAAATAAAAGTGTTTATGCTCTTACCCAGGTTCTGCCACTAACCTGGTCATCACACATAACCTTTCCTGGATTCTCTAACAATACATAAATAAATAAAACTTGCTAGGCTCAAACACAAAGCCAGGATGAAATTGAGCTCATTCAATAAAAATATTCTGGAAATTCATAGGTGCATAAGTTGTTTCAAGGCACTCTTGGCTGGAGGTTGGG... | TTTTTACGTTTTTTTTTCCCTTGAATATAACACCTGAACCTGAAAATAATCTCAACCCGAATGAACTGGAAATCTTATTTGCCAGACGTCAAGAAAAAGGGCTTGGGAACAAATAAAAGTGTTTATGCTCTTACCCAGGTTCTGCCACTAACCTGGTCATCACACATAACCTTTCCTGGATTCTCTAACAATACATAAATAAATAAAACTTGCTAGGCTCAAACACAAAGCCAGGATGAAATTGAGCTCATTCAATAAAAATATTCTGGAAATTCATAGGTGCATAAGTTGTTTCAAGGCACTCTTGGCTGGAGGTTGGG... | pathogenic | 37,716 |
Considering the variant on chromosome 2, location 54653760, involving gene SPTBN1 (spectrin beta, non-erythrocytic 1), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Inborn_genetic_diseases'] | AGGTGTTTTGAAAAATATGGTTCATTGTGTAGGAAAATTAGCTTTTCAGATAATTTCCTAGGAATTTGCTCATTGTAATTTGAGTTAAACCTGAGCCATAATCAAAGAATATTTCCAAAAATCCTTTAGGATATGGAAATCAAATCACACTGGAAACCAAAGCCTGTTGGTTCTTCTTTGTATCTTTTGCAGAAACTGCTTTTTTTCTTTTTTAACCTGTTATCACCTAAAGTGCTTCTGTGCAATCAGGGGTCAGTAATCCACCTCCCCACAAGCCCTACTGCTGTCCGTACCCCCCCGCCTTTTACCCCACTTAGCAT... | AGGTGTTTTGAAAAATATGGTTCATTGTGTAGGAAAATTAGCTTTTCAGATAATTTCCTAGGAATTTGCTCATTGTAATTTGAGTTAAACCTGAGCCATAATCAAAGAATATTTCCAAAAATCCTTTAGGATATGGAAATCAAATCACACTGGAAACCAAAGCCTGTTGGTTCTTCTTTGTATCTTTTGCAGAAACTGCTTTTTTTCTTTTTTAACCTGTTATCACCTAAAGTGCTTCTGTGCAATCAGGGGTCAGTAATCCACCTCCCCACAAGCCCTACTGCTGTCCGTACCCCCCCGCCTTTTACCCCACTTAGCAT... | pathogenic | 37,786 |
Regarding the variant found on chromosome 2 at position 55636225 in gene PNPT1 (polyribonucleotide nucleotidyltransferase 1): is it benign or pathogenic? If pathogenic, identify the disease(s). | benign | GTTTATTGACTTAAAAATCTTTGGTTTAGCCAGATAAATTTGTAATATTTTATGAACTAGTTAACCCTGAGTCATGAATTTACCTTTTTTTTTTTTTTTTCTGGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAATGGCGCAATCTCGGCTCACTGCAACCTCCATTTCCCAGGCTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTAGGATTACAGGTGCCTGCCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTTACCGTGTTGGCCAGGCTGGTCTTGAATTCCTGACCTCA... | GTTTATTGACTTAAAAATCTTTGGTTTAGCCAGATAAATTTGTAATATTTTATGAACTAGTTAACCCTGAGTCATGAATTTACCTTTTTTTTTTTTTTTTCTGGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAATGGCGCAATCTCGGCTCACTGCAACCTCCATTTCCCAGGCTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTAGGATTACAGGTGCCTGCCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTTACCGTGTTGGCCAGGCTGGTCTTGAATTCCTGACCTCA... | benign | 37,836 |
A mutation at chromosome position 55637603 on chromosome 2 in gene PNPT1 (polyribonucleotide nucleotidyltransferase 1): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | benign | CGCCTGCCTTAGCCAATAATCTTTCTGTTTAGGTAAATTTGAAAAATATACATCATTACTACCACATTCATCCTAGTTAGAATCTCATTTATATTTATTCCACTCTGTTTATGATTTGGTAACTAATTTGAAAGGCATTATATTATCAAAAGTGTATCAGATTAGCTCCCTCAACTCACTATATCTGTTAACAGTTCTGAAGAAATAGGCACTGGCTTTGAATATGGCCTGTTCCAGTTTGTGAACCGTTGTAGGCAAGTAAAGTTGTTGGGCACAGAGGTGACCTGTAGGATGACTGAAGGTAAACTGTCACTACTGTA... | CGCCTGCCTTAGCCAATAATCTTTCTGTTTAGGTAAATTTGAAAAATATACATCATTACTACCACATTCATCCTAGTTAGAATCTCATTTATATTTATTCCACTCTGTTTATGATTTGGTAACTAATTTGAAAGGCATTATATTATCAAAAGTGTATCAGATTAGCTCCCTCAACTCACTATATCTGTTAACAGTTCTGAAGAAATAGGCACTGGCTTTGAATATGGCCTGTTCCAGTTTGTGAACCGTTGTAGGCAAGTAAAGTTGTTGGGCACAGAGGTGACCTGTAGGATGACTGAAGGTAAACTGTCACTACTGTA... | benign | 37,838 |
Does the chromosome 2 mutation at position 55646394 within gene PNPT1 (polyribonucleotide nucleotidyltransferase 1) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | benign | TCTAAAGTTAAAAACTAAAAATTATTCTAGATGTTCAACTATAAAATGTTGCAAAAAAGTCCTGATGAATTCTTTGTAATCCTTCTTGAATTTAGTTAAGAATGACCATTTGCTAATTTATTAATAGGCACACAGAAAACTCACAGTCAAGACACGTCATATCCTTTTCTCCTGGTCTTTCTCTCATTTCTCAAATAAATATATATTTAAAGCAACATACTAGAGATGAAATAGCAAACTTTTATGGTCTAGCATTTAATTAAAAAACCCCAAACTTCATACAACTCTTACCTGTTTCAGCCTGAAGTTTTTTTAAGTTA... | TCTAAAGTTAAAAACTAAAAATTATTCTAGATGTTCAACTATAAAATGTTGCAAAAAAGTCCTGATGAATTCTTTGTAATCCTTCTTGAATTTAGTTAAGAATGACCATTTGCTAATTTATTAATAGGCACACAGAAAACTCACAGTCAAGACACGTCATATCCTTTTCTCCTGGTCTTTCTCTCATTTCTCAAATAAATATATATTTAAAGCAACATACTAGAGATGAAATAGCAAACTTTTATGGTCTAGCATTTAATTAAAAAACCCCAAACTTCATACAACTCTTACCTGTTTCAGCCTGAAGTTTTTTTAAGTTA... | benign | 37,863 |
Variant chromosome 2, position 55656374, gene PNPT1 (polyribonucleotide nucleotidyltransferase 1): benign or pathogenic? Disease(s)? | benign | AATGAAACATTTGTAGTCCGCCTTCCTAAAATTGTGTGTACACGCCTGAGTGGCATTGTTCTCTTGGCTTGTATAAATCGACTGAAAGATTACAGTTGCTTTCTCTTATGATTCCTAATAGTACTTACTAATCAAAACTTCCTTGGTGATTGGAATCAATTCTGGAGCTCTCTACCTTTTGGAAGGAAATAAAGTTTACTGGGTCACCAATGCAAATAAAAATTTTTCAGTGTACTGCTTTTAGCTAAAAATAAGAATTCCAGCAGATATCTGGATATCTGAAGCTCTACTTTTCAGCCATCTTGCCTCTGGCTTGATTT... | AATGAAACATTTGTAGTCCGCCTTCCTAAAATTGTGTGTACACGCCTGAGTGGCATTGTTCTCTTGGCTTGTATAAATCGACTGAAAGATTACAGTTGCTTTCTCTTATGATTCCTAATAGTACTTACTAATCAAAACTTCCTTGGTGATTGGAATCAATTCTGGAGCTCTCTACCTTTTGGAAGGAAATAAAGTTTACTGGGTCACCAATGCAAATAAAAATTTTTCAGTGTACTGCTTTTAGCTAAAAATAAGAATTCCAGCAGATATCTGGATATCTGAAGCTCTACTTTTCAGCCATCTTGCCTCTGGCTTGATTT... | benign | 37,876 |
Regarding the variant at chromosome 2 and position 55666983, affecting gene PNPT1 (polyribonucleotide nucleotidyltransferase 1): benign or pathogenic? If pathogenic, what are the associated illness(es)? | benign | GAAGGATATTTTGAGAACTTGATATAATACTAAAATTCAAATAAAGGAACAAATGTATCTAAATTTTAAGATAATTTTGAGGGGATTGAACAAACAGGGAAGATGACTTGCTTCTCAGATATTAAAATATACCCCTAAATCATAATAATTAAAATAGTTTGACAGTGGCCCAGAAAATTCACGTAACAATGAAAAAGGATATAGTTTAACATGCATTTATAAACTTTGACTATCATATGGTGACATCACAAGTCATTGAGAAAAATAAAGTATTAGTAAATAATGTATAATTGGCTCACTATGGAGGTCTTCCTTTCATA... | GAAGGATATTTTGAGAACTTGATATAATACTAAAATTCAAATAAAGGAACAAATGTATCTAAATTTTAAGATAATTTTGAGGGGATTGAACAAACAGGGAAGATGACTTGCTTCTCAGATATTAAAATATACCCCTAAATCATAATAATTAAAATAGTTTGACAGTGGCCCAGAAAATTCACGTAACAATGAAAAAGGATATAGTTTAACATGCATTTATAAACTTTGACTATCATATGGTGACATCACAAGTCATTGAGAAAAATAAAGTATTAGTAAATAATGTATAATTGGCTCACTATGGAGGTCTTCCTTTCATA... | benign | 37,885 |
Is the chromosome 2, position 55666991 variant in PNPT1 (polyribonucleotide nucleotidyltransferase 1) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic | TTTTGAGAACTTGATATAATACTAAAATTCAAATAAAGGAACAAATGTATCTAAATTTTAAGATAATTTTGAGGGGATTGAACAAACAGGGAAGATGACTTGCTTCTCAGATATTAAAATATACCCCTAAATCATAATAATTAAAATAGTTTGACAGTGGCCCAGAAAATTCACGTAACAATGAAAAAGGATATAGTTTAACATGCATTTATAAACTTTGACTATCATATGGTGACATCACAAGTCATTGAGAAAAATAAAGTATTAGTAAATAATGTATAATTGGCTCACTATGGAGGTCTTCCTTTCATACAACGTGT... | TTTTGAGAACTTGATATAATACTAAAATTCAAATAAAGGAACAAATGTATCTAAATTTTAAGATAATTTTGAGGGGATTGAACAAACAGGGAAGATGACTTGCTTCTCAGATATTAAAATATACCCCTAAATCATAATAATTAAAATAGTTTGACAGTGGCCCAGAAAATTCACGTAACAATGAAAAAGGATATAGTTTAACATGCATTTATAAACTTTGACTATCATATGGTGACATCACAAGTCATTGAGAAAAATAAAGTATTAGTAAATAATGTATAATTGGCTCACTATGGAGGTCTTCCTTTCATACAACGTGT... | pathogenic | 37,886 |
Variant at chromosome 2, position 55673096, gene PNPT1 (polyribonucleotide nucleotidyltransferase 1): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | benign | GGGGACTTTCTCTTTCCCCGAAACAGTTCGGGGAAGCTTTGGAGAAGAGGTGGCATTTGAACCTTGGGTTAGAAGAAGACCACCTGCTATGAGAGAGCATTCTAGGTCTAGGGAACAGCAGCTGTAAAGTTGAAAGTCCTTTGAATTCTTCTTTTCCTACAGATGTGATGCCTTTCCTCTTTGACCTTTAATCCCAAGAAGCAAGAGTCAGGCCATGCCTTATTAAAGCTGCCCTCAGCAAAAAAATAAAATAAAATAAAATAAAATTTACCTTTTAGTTGTTCCTCCGTATCTAATCTTATTTTGTTAACAGCTTCATC... | GGGGACTTTCTCTTTCCCCGAAACAGTTCGGGGAAGCTTTGGAGAAGAGGTGGCATTTGAACCTTGGGTTAGAAGAAGACCACCTGCTATGAGAGAGCATTCTAGGTCTAGGGAACAGCAGCTGTAAAGTTGAAAGTCCTTTGAATTCTTCTTTTCCTACAGATGTGATGCCTTTCCTCTTTGACCTTTAATCCCAAGAAGCAAGAGTCAGGCCATGCCTTATTAAAGCTGCCCTCAGCAAAAAAATAAAATAAAATAAAATAAAATTTACCTTTTAGTTGTTCCTCCGTATCTAATCTTATTTTGTTAACAGCTTCATC... | benign | 37,906 |
Gene mutation in PNPT1 (polyribonucleotide nucleotidyltransferase 1) at chromosome 2, position 55680930—is it benign or pathogenic? If pathogenic, specify the disease(s). | benign | ATATTACTTGTACAAAAAAGCAGTAAAAGTTGAATAGTTTGTTTCATCAAAATGTTCCCACATCAGAAGACCCTATGTCAAAAAGTCACACACATCAAACATCACATAGTAGAATAAACCAACAATAAAAGCCCTTAAATAATCTGTCCAAGATCACATGATTATAGTGGCAGAGACAGGTTTCAAATCCAGGTCATTCTGACTGCTAAAGCCCATTTTCCTTCCACAGAACAAGGACCTGATTTTCGTTCATGCAAGTATGACATTTCTGTCACAAGGAGTAAGTGAAAATGGCCCATGGTCAATGCATTTCTTCTATT... | ATATTACTTGTACAAAAAAGCAGTAAAAGTTGAATAGTTTGTTTCATCAAAATGTTCCCACATCAGAAGACCCTATGTCAAAAAGTCACACACATCAAACATCACATAGTAGAATAAACCAACAATAAAAGCCCTTAAATAATCTGTCCAAGATCACATGATTATAGTGGCAGAGACAGGTTTCAAATCCAGGTCATTCTGACTGCTAAAGCCCATTTTCCTTCCACAGAACAAGGACCTGATTTTCGTTCATGCAAGTATGACATTTCTGTCACAAGGAGTAAGTGAAAATGGCCCATGGTCAATGCATTTCTTCTATT... | benign | 37,912 |
Is chromosome 2, position 55867066, gene EFEMP1 (EGF containing fibulin extracellular matrix protein 1) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | benign | TTTAAAATGTCTAAAATGGTAAATTTTATCACAACAGAACAAAGAAATTGCCTCAGTGAAACTTCAGTATCAACCCTCTTCCTTGTGTCTGTAATTTGTGGGTAGGACTAGGCTTTGGGATAAAAGGGCAAACATCTTGTCTGCAGTTAATGGCTTCCGCAGGCCCAGAAAATATATATATATATATATATTTGGAGGTAGAAATTGAGGGCCAGGGCTTAGCATAAACATTTCAGAGATTCCTGTTTCTTCTACAATTCCCTGGGGAGCCATAGACAAGACCGGTTTTCTTGTTTAAGAGGGAAAAATGTGTTGGAAGA... | TTTAAAATGTCTAAAATGGTAAATTTTATCACAACAGAACAAAGAAATTGCCTCAGTGAAACTTCAGTATCAACCCTCTTCCTTGTGTCTGTAATTTGTGGGTAGGACTAGGCTTTGGGATAAAAGGGCAAACATCTTGTCTGCAGTTAATGGCTTCCGCAGGCCCAGAAAATATATATATATATATATATTTGGAGGTAGAAATTGAGGGCCAGGGCTTAGCATAAACATTTCAGAGATTCCTGTTTCTTCTACAATTCCCTGGGGAGCCATAGACAAGACCGGTTTTCTTGTTTAAGAGGGAAAAATGTGTTGGAAGA... | benign | 37,936 |
Is the genetic variant on chromosome 2, position 55874926, gene EFEMP1 (EGF containing fibulin extracellular matrix protein 1), benign or pathogenic? If pathogenic, what disease(s) is indicated? | benign | GTTATATGGAGTCCAACAGAAGCAAAAGACAACCTTATAATTTCATTTATTACTTCCATTAATGTAGAGCCTAGCATAATCATCACCTTAATCATTCTGGAAGATTTTTCAGAAATTAATACTCTCAAAATATTTGATGAGTGTGTGTCTATGTGTATGTGTATTCTTTTGTCTCTCTGTCTCTCTCTCCACACACACACACACACACACACACACACACACACAGTTTTCATTTGTATAGGCCTGTGAAATGAGAACAGTTATTTCATCCACAAAATAAGTCTTTTAGAGAAAGTTAAGAATCCAAAACTTTCAATTTC... | GTTATATGGAGTCCAACAGAAGCAAAAGACAACCTTATAATTTCATTTATTACTTCCATTAATGTAGAGCCTAGCATAATCATCACCTTAATCATTCTGGAAGATTTTTCAGAAATTAATACTCTCAAAATATTTGATGAGTGTGTGTCTATGTGTATGTGTATTCTTTTGTCTCTCTGTCTCTCTCTCCACACACACACACACACACACACACACACACACACAGTTTTCATTTGTATAGGCCTGTGAAATGAGAACAGTTATTTCATCCACAAAATAAGTCTTTTAGAGAAAGTTAAGAATCCAAAACTTTCAATTTC... | benign | 37,943 |
Evaluate the clinical significance of the mutation at chromosome 2, position 55876756 in gene EFEMP1 (EGF containing fibulin extracellular matrix protein 1): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | benign | ATACATATCAATATTTTATTAAAATTATTTATCTTTTAAGGACGAAAAATGTCGGCATTAGCATAGAATCACCTCTTTATGAGATGTATATATTTTATGATGAACAGGGGAAAAAAGAGCTTAAATTGTATATTGAAAGTGGGAAAAATGAAAGTCTATAGGAGAATCCTATAACTTCCTCTTGTCTCTTCCTGGCTAAAACTAAATACCTAACATATGAAAAAAAAAATAAACTTACCTTGACATGTTCTACTTCTCACCACTTGGTATCCCTGGGGGCACATACATGAGAATTTCCCAGGTTCATTGACACATTGATA... | ATACATATCAATATTTTATTAAAATTATTTATCTTTTAAGGACGAAAAATGTCGGCATTAGCATAGAATCACCTCTTTATGAGATGTATATATTTTATGATGAACAGGGGAAAAAAGAGCTTAAATTGTATATTGAAAGTGGGAAAAATGAAAGTCTATAGGAGAATCCTATAACTTCCTCTTGTCTCTTCCTGGCTAAAACTAAATACCTAACATATGAAAAAAAAAATAAACTTACCTTGACATGTTCTACTTCTCACCACTTGGTATCCCTGGGGGCACATACATGAGAATTTCCCAGGTTCATTGACACATTGATA... | benign | 37,947 |
Mutation found at chromosome 2 position 58159808, gene FANCL: benign or pathogenic? If pathogenic, indicate the relevant disease(s). | benign | AAAGGCCAGAAAGAAAATATTTTCAGTTTACTTTCCATACAGTTTTTGTCAGAACTATTCAACAATGCCATTGTAGTGCAAAAGCCCACATAGACAATACATAAACAAATTGATGTGGCTCTGTTCCAATAAAACTTTATTCACAAAACAGGCAACTAGCCAAGCCAAATTTTGGCAACTCCTGTTATAGACTATCCTAATCAGACCCCCTCAGTGTACTGAAGACAACAGGTGGTTAAATTCTTTGATGAGTGCCTTGCCATATGATGTCATTTGCTGATGTTCAAGAGAGATTAAGTGTATAGATTACACAGTAGATG... | AAAGGCCAGAAAGAAAATATTTTCAGTTTACTTTCCATACAGTTTTTGTCAGAACTATTCAACAATGCCATTGTAGTGCAAAAGCCCACATAGACAATACATAAACAAATTGATGTGGCTCTGTTCCAATAAAACTTTATTCACAAAACAGGCAACTAGCCAAGCCAAATTTTGGCAACTCCTGTTATAGACTATCCTAATCAGACCCCCTCAGTGTACTGAAGACAACAGGTGGTTAAATTCTTTGATGAGTGCCTTGCCATATGATGTCATTTGCTGATGTTCAAGAGAGATTAAGTGTATAGATTACACAGTAGATG... | benign | 37,974 |
The chromosome 2, position 58160148 genetic variant in gene FANCL (FA complementation group L): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Fanconi_anemia_complementation_group_L'] | TTGACTTCTATCCTTACCTAAGTGGAGATATCTCCCAGCCTTGCACATGTGAGCTATATGTAAATGCTGCTCTATGATTTGATAGCATAATTATTATTTGTATTATGCTTTATAGGCCTACTGGAATAATTATTCACTTATTTTGACTTTAGTTAATAAAGCTGACAAACTTATGAAAAACTGCATTAATGTGACTTCGTTAGCTCAGAAAGAGTAGTTTAAAATGAGTTATTTAACTCTAAAGTGAGTCATTTAACTCTCAAGTAATTTTTTTTCATAGGAAAGCTAGTAGTTTTTAAAACATCCTTTGTTTTATGTAG... | TTGACTTCTATCCTTACCTAAGTGGAGATATCTCCCAGCCTTGCACATGTGAGCTATATGTAAATGCTGCTCTATGATTTGATAGCATAATTATTATTTGTATTATGCTTTATAGGCCTACTGGAATAATTATTCACTTATTTTGACTTTAGTTAATAAAGCTGACAAACTTATGAAAAACTGCATTAATGTGACTTCGTTAGCTCAGAAAGAGTAGTTTAAAATGAGTTATTTAACTCTAAAGTGAGTCATTTAACTCTCAAGTAATTTTTTTTCATAGGAAAGCTAGTAGTTTTTAAAACATCCTTTGTTTTATGTAG... | pathogenic | 37,980 |
Classify the chromosome 2 variant at position 58160157 affecting gene FANCL (FA complementation group L) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Fanconi_anemia', 'Fanconi_anemia_complementation_group_L'] | ATCCTTACCTAAGTGGAGATATCTCCCAGCCTTGCACATGTGAGCTATATGTAAATGCTGCTCTATGATTTGATAGCATAATTATTATTTGTATTATGCTTTATAGGCCTACTGGAATAATTATTCACTTATTTTGACTTTAGTTAATAAAGCTGACAAACTTATGAAAAACTGCATTAATGTGACTTCGTTAGCTCAGAAAGAGTAGTTTAAAATGAGTTATTTAACTCTAAAGTGAGTCATTTAACTCTCAAGTAATTTTTTTTCATAGGAAAGCTAGTAGTTTTTAAAACATCCTTTGTTTTATGTAGGACTCCTTT... | ATCCTTACCTAAGTGGAGATATCTCCCAGCCTTGCACATGTGAGCTATATGTAAATGCTGCTCTATGATTTGATAGCATAATTATTATTTGTATTATGCTTTATAGGCCTACTGGAATAATTATTCACTTATTTTGACTTTAGTTAATAAAGCTGACAAACTTATGAAAAACTGCATTAATGTGACTTCGTTAGCTCAGAAAGAGTAGTTTAAAATGAGTTATTTAACTCTAAAGTGAGTCATTTAACTCTCAAGTAATTTTTTTTCATAGGAAAGCTAGTAGTTTTTAAAACATCCTTTGTTTTATGTAGGACTCCTTT... | pathogenic | 37,981 |
Considering the variant on chromosome 2, location 58160168, involving gene FANCL (FA complementation group L), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Fanconi_anemia', 'Fanconi_anemia_complementation_group_L'] | AGTGGAGATATCTCCCAGCCTTGCACATGTGAGCTATATGTAAATGCTGCTCTATGATTTGATAGCATAATTATTATTTGTATTATGCTTTATAGGCCTACTGGAATAATTATTCACTTATTTTGACTTTAGTTAATAAAGCTGACAAACTTATGAAAAACTGCATTAATGTGACTTCGTTAGCTCAGAAAGAGTAGTTTAAAATGAGTTATTTAACTCTAAAGTGAGTCATTTAACTCTCAAGTAATTTTTTTTCATAGGAAAGCTAGTAGTTTTTAAAACATCCTTTGTTTTATGTAGGACTCCTTTCTGACACTTCC... | AGTGGAGATATCTCCCAGCCTTGCACATGTGAGCTATATGTAAATGCTGCTCTATGATTTGATAGCATAATTATTATTTGTATTATGCTTTATAGGCCTACTGGAATAATTATTCACTTATTTTGACTTTAGTTAATAAAGCTGACAAACTTATGAAAAACTGCATTAATGTGACTTCGTTAGCTCAGAAAGAGTAGTTTAAAATGAGTTATTTAACTCTAAAGTGAGTCATTTAACTCTCAAGTAATTTTTTTTCATAGGAAAGCTAGTAGTTTTTAAAACATCCTTTGTTTTATGTAGGACTCCTTTCTGACACTTCC... | pathogenic | 37,982 |
Is the variant located on chromosome 2 at position 58160170, gene FANCL (FA complementation group L), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Fanconi_anemia', 'Fanconi_anemia_complementation_group_L'] | TGGAGATATCTCCCAGCCTTGCACATGTGAGCTATATGTAAATGCTGCTCTATGATTTGATAGCATAATTATTATTTGTATTATGCTTTATAGGCCTACTGGAATAATTATTCACTTATTTTGACTTTAGTTAATAAAGCTGACAAACTTATGAAAAACTGCATTAATGTGACTTCGTTAGCTCAGAAAGAGTAGTTTAAAATGAGTTATTTAACTCTAAAGTGAGTCATTTAACTCTCAAGTAATTTTTTTTCATAGGAAAGCTAGTAGTTTTTAAAACATCCTTTGTTTTATGTAGGACTCCTTTCTGACACTTCCAA... | TGGAGATATCTCCCAGCCTTGCACATGTGAGCTATATGTAAATGCTGCTCTATGATTTGATAGCATAATTATTATTTGTATTATGCTTTATAGGCCTACTGGAATAATTATTCACTTATTTTGACTTTAGTTAATAAAGCTGACAAACTTATGAAAAACTGCATTAATGTGACTTCGTTAGCTCAGAAAGAGTAGTTTAAAATGAGTTATTTAACTCTAAAGTGAGTCATTTAACTCTCAAGTAATTTTTTTTCATAGGAAAGCTAGTAGTTTTTAAAACATCCTTTGTTTTATGTAGGACTCCTTTCTGACACTTCCAA... | pathogenic | 37,983 |
Is the genetic mutation found on chromosome 2 at position 58161524, within the gene FANCL (FA complementation group L), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Fanconi_anemia', 'Fanconi_anemia_complementation_group_L'] | CCAGTCCAGATATATTCAAGAAGTCAAGATCTCCATCTTGGTATAAATACACTTCCACAGTCAGCACGGGGATCACAGACTTAGAAAGTTCAACTGGACTTTGGCCTACAATTTCCCAGTTTACTCTTAGTGAAGAGACAAACGCAGATGTTTATTATTATCGCATCATCATACCTGTCCTTTTGATGTTAGTATTTCTTGCTTTATTTTTTCTCTGAAGATGATACCAAAATTCCTTTTGATAATTTTTTAAGTTTCCAGCTCTTCACCGAAATGTTGTATTCTTATTTCAGTGTTTCCTTCCAGACATTTTTAAGGTA... | CCAGTCCAGATATATTCAAGAAGTCAAGATCTCCATCTTGGTATAAATACACTTCCACAGTCAGCACGGGGATCACAGACTTAGAAAGTTCAACTGGACTTTGGCCTACAATTTCCCAGTTTACTCTTAGTGAAGAGACAAACGCAGATGTTTATTATTATCGCATCATCATACCTGTCCTTTTGATGTTAGTATTTCTTGCTTTATTTTTTCTCTGAAGATGATACCAAAATTCCTTTTGATAATTTTTTAAGTTTCCAGCTCTTCACCGAAATGTTGTATTCTTATTTCAGTGTTTCCTTCCAGACATTTTTAAGGTA... | pathogenic | 37,986 |
Clinical significance of chromosome 2, position 58161609, gene FANCL (FA complementation group L): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Fanconi_anemia', 'Fanconi_anemia_complementation_group_L'] | AAGTTCAACTGGACTTTGGCCTACAATTTCCCAGTTTACTCTTAGTGAAGAGACAAACGCAGATGTTTATTATTATCGCATCATCATACCTGTCCTTTTGATGTTAGTATTTCTTGCTTTATTTTTTCTCTGAAGATGATACCAAAATTCCTTTTGATAATTTTTTAAGTTTCCAGCTCTTCACCGAAATGTTGTATTCTTATTTCAGTGTTTCCTTCCAGACATTTTTAAGGTAATTGGCTTTAAAAAGAGAACATATTTTAACAAAGTTTGTGGACACTCTAAAAAATAAAATTGCTTTGTACTAGAAATAGTGTCAT... | AAGTTCAACTGGACTTTGGCCTACAATTTCCCAGTTTACTCTTAGTGAAGAGACAAACGCAGATGTTTATTATTATCGCATCATCATACCTGTCCTTTTGATGTTAGTATTTCTTGCTTTATTTTTTCTCTGAAGATGATACCAAAATTCCTTTTGATAATTTTTTAAGTTTCCAGCTCTTCACCGAAATGTTGTATTCTTATTTCAGTGTTTCCTTCCAGACATTTTTAAGGTAATTGGCTTTAAAAAGAGAACATATTTTAACAAAGTTTGTGGACACTCTAAAAAATAAAATTGCTTTGTACTAGAAATAGTGTCAT... | pathogenic | 37,988 |
Does the variant on chromosome 2 at location 58162863 affecting gene FANCL (FA complementation group L) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Fanconi_anemia', 'Fanconi_anemia_complementation_group_L'] | AGACGGCACCAACTGCTACCTCTAATCACAAAAGTAAAGATGTGATATTAAGGAAGACTGAAACCGAAGGCAACATACAATTGCAAGGTGTTCTGTATATAGTTACACACAGTTTATCATGTATCAACTAGGCCCTAAGGTGAAGCCAGGCACTAAAGACAGGAATGAAAGTAGACTTCACATACAGTAAGTAAAGTGGCATTGCCTGAGTGCTGTGAGACTCAGATCACAAAAGGCATTCTTCTCAACATGAAAAGTAGTAGTATTGGATATATTCTATTCTTAAATGCAGCCTGAAAAGTAATAGATACTACATAGTA... | AGACGGCACCAACTGCTACCTCTAATCACAAAAGTAAAGATGTGATATTAAGGAAGACTGAAACCGAAGGCAACATACAATTGCAAGGTGTTCTGTATATAGTTACACACAGTTTATCATGTATCAACTAGGCCCTAAGGTGAAGCCAGGCACTAAAGACAGGAATGAAAGTAGACTTCACATACAGTAAGTAAAGTGGCATTGCCTGAGTGCTGTGAGACTCAGATCACAAAAGGCATTCTTCTCAACATGAAAAGTAGTAGTATTGGATATATTCTATTCTTAAATGCAGCCTGAAAAGTAATAGATACTACATAGTA... | pathogenic | 37,992 |
Variant in gene FANCL (FA complementation group L), located at chromosome 2 position 58162864: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Fanconi_anemia', 'Fanconi_anemia_complementation_group_L'] | GACGGCACCAACTGCTACCTCTAATCACAAAAGTAAAGATGTGATATTAAGGAAGACTGAAACCGAAGGCAACATACAATTGCAAGGTGTTCTGTATATAGTTACACACAGTTTATCATGTATCAACTAGGCCCTAAGGTGAAGCCAGGCACTAAAGACAGGAATGAAAGTAGACTTCACATACAGTAAGTAAAGTGGCATTGCCTGAGTGCTGTGAGACTCAGATCACAAAAGGCATTCTTCTCAACATGAAAAGTAGTAGTATTGGATATATTCTATTCTTAAATGCAGCCTGAAAAGTAATAGATACTACATAGTAC... | GACGGCACCAACTGCTACCTCTAATCACAAAAGTAAAGATGTGATATTAAGGAAGACTGAAACCGAAGGCAACATACAATTGCAAGGTGTTCTGTATATAGTTACACACAGTTTATCATGTATCAACTAGGCCCTAAGGTGAAGCCAGGCACTAAAGACAGGAATGAAAGTAGACTTCACATACAGTAAGTAAAGTGGCATTGCCTGAGTGCTGTGAGACTCAGATCACAAAAGGCATTCTTCTCAACATGAAAAGTAGTAGTATTGGATATATTCTATTCTTAAATGCAGCCTGAAAAGTAATAGATACTACATAGTAC... | pathogenic | 37,993 |
Considering the genetic mutation at chromosome 2, position 58162961, impacting FANCL (FA complementation group L): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | benign | ATAGTTACACACAGTTTATCATGTATCAACTAGGCCCTAAGGTGAAGCCAGGCACTAAAGACAGGAATGAAAGTAGACTTCACATACAGTAAGTAAAGTGGCATTGCCTGAGTGCTGTGAGACTCAGATCACAAAAGGCATTCTTCTCAACATGAAAAGTAGTAGTATTGGATATATTCTATTCTTAAATGCAGCCTGAAAAGTAATAGATACTACATAGTACTAATTTCATTTTCACTGTATTACTGCCACTTTCAACCACCTCCACCTCGGGTAAACCTATGAAGCTTACATTGTGGTAACAAGGAATTTATAGAAAG... | ATAGTTACACACAGTTTATCATGTATCAACTAGGCCCTAAGGTGAAGCCAGGCACTAAAGACAGGAATGAAAGTAGACTTCACATACAGTAAGTAAAGTGGCATTGCCTGAGTGCTGTGAGACTCAGATCACAAAAGGCATTCTTCTCAACATGAAAAGTAGTAGTATTGGATATATTCTATTCTTAAATGCAGCCTGAAAAGTAATAGATACTACATAGTACTAATTTCATTTTCACTGTATTACTGCCACTTTCAACCACCTCCACCTCGGGTAAACCTATGAAGCTTACATTGTGGTAACAAGGAATTTATAGAAAG... | benign | 37,996 |
Gene FANCL (FA complementation group L) variant at chromosome position 58163083 on chromosome 2: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | benign | CTCAGATCACAAAAGGCATTCTTCTCAACATGAAAAGTAGTAGTATTGGATATATTCTATTCTTAAATGCAGCCTGAAAAGTAATAGATACTACATAGTACTAATTTCATTTTCACTGTATTACTGCCACTTTCAACCACCTCCACCTCGGGTAAACCTATGAAGCTTACATTGTGGTAACAAGGAATTTATAGAAAGATTCCAATGTACCATCAATTTAATTTGTTATGTGTCAATAAGCTAGTCCATGAATATATTCTGGATAGATTTTCTCCCTTGGATACTTCAGAACATTTCTCCACTCATTAGTAACTGTGATG... | CTCAGATCACAAAAGGCATTCTTCTCAACATGAAAAGTAGTAGTATTGGATATATTCTATTCTTAAATGCAGCCTGAAAAGTAATAGATACTACATAGTACTAATTTCATTTTCACTGTATTACTGCCACTTTCAACCACCTCCACCTCGGGTAAACCTATGAAGCTTACATTGTGGTAACAAGGAATTTATAGAAAGATTCCAATGTACCATCAATTTAATTTGTTATGTGTCAATAAGCTAGTCCATGAATATATTCTGGATAGATTTTCTCCCTTGGATACTTCAGAACATTTCTCCACTCATTAGTAACTGTGATG... | benign | 37,999 |
Chromosome 2, position 58163446, gene FANCL (FA complementation group L): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Fanconi_anemia', 'Fanconi_anemia_complementation_group_L'] | AGTTAATGGCAAAAGAGAGGATCACTATTGACTCAACAGATTTTAGATTCTGTGTATTTCAAACAGGAATACTTCCTATGTTGTGTTAGCGGAAAAAAGTCTTGACAATATTTTTATTTTTTACCTCATATAAGCATATTTGATGGAAAGGTTGTCCACACTGAGAATTATCACACACTTGATCAGGAATGGTACCGTCAAGTTGATAAGCATAACAAATTCCACAATCCATAGTAAAATCCTTCAAAAGAAAAATATTTATAAAAAGCGTATGTGTCTCACTAACTTATTCGTTGTACATATTTGGGAGGGTATGTGTG... | AGTTAATGGCAAAAGAGAGGATCACTATTGACTCAACAGATTTTAGATTCTGTGTATTTCAAACAGGAATACTTCCTATGTTGTGTTAGCGGAAAAAAGTCTTGACAATATTTTTATTTTTTACCTCATATAAGCATATTTGATGGAAAGGTTGTCCACACTGAGAATTATCACACACTTGATCAGGAATGGTACCGTCAAGTTGATAAGCATAACAAATTCCACAATCCATAGTAAAATCCTTCAAAAGAAAAATATTTATAAAAAGCGTATGTGTCTCACTAACTTATTCGTTGTACATATTTGGGAGGGTATGTGTG... | pathogenic | 38,003 |
Variant in FANCL (FA complementation group L), chromosome 2, position 58163468—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Fanconi_anemia', 'Fanconi_anemia_complementation_group_L'] | CACTATTGACTCAACAGATTTTAGATTCTGTGTATTTCAAACAGGAATACTTCCTATGTTGTGTTAGCGGAAAAAAGTCTTGACAATATTTTTATTTTTTACCTCATATAAGCATATTTGATGGAAAGGTTGTCCACACTGAGAATTATCACACACTTGATCAGGAATGGTACCGTCAAGTTGATAAGCATAACAAATTCCACAATCCATAGTAAAATCCTTCAAAAGAAAAATATTTATAAAAAGCGTATGTGTCTCACTAACTTATTCGTTGTACATATTTGGGAGGGTATGTGTGATATTTTGATACATGTATACAG... | CACTATTGACTCAACAGATTTTAGATTCTGTGTATTTCAAACAGGAATACTTCCTATGTTGTGTTAGCGGAAAAAAGTCTTGACAATATTTTTATTTTTTACCTCATATAAGCATATTTGATGGAAAGGTTGTCCACACTGAGAATTATCACACACTTGATCAGGAATGGTACCGTCAAGTTGATAAGCATAACAAATTCCACAATCCATAGTAAAATCCTTCAAAAGAAAAATATTTATAAAAAGCGTATGTGTCTCACTAACTTATTCGTTGTACATATTTGGGAGGGTATGTGTGATATTTTGATACATGTATACAG... | pathogenic | 38,006 |
The genetic variant at chromosome 2, position 58163470, affecting gene FANCL (FA complementation group L): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Fanconi_anemia_complementation_group_L'] | CTATTGACTCAACAGATTTTAGATTCTGTGTATTTCAAACAGGAATACTTCCTATGTTGTGTTAGCGGAAAAAAGTCTTGACAATATTTTTATTTTTTACCTCATATAAGCATATTTGATGGAAAGGTTGTCCACACTGAGAATTATCACACACTTGATCAGGAATGGTACCGTCAAGTTGATAAGCATAACAAATTCCACAATCCATAGTAAAATCCTTCAAAAGAAAAATATTTATAAAAAGCGTATGTGTCTCACTAACTTATTCGTTGTACATATTTGGGAGGGTATGTGTGATATTTTGATACATGTATACAGTG... | CTATTGACTCAACAGATTTTAGATTCTGTGTATTTCAAACAGGAATACTTCCTATGTTGTGTTAGCGGAAAAAAGTCTTGACAATATTTTTATTTTTTACCTCATATAAGCATATTTGATGGAAAGGTTGTCCACACTGAGAATTATCACACACTTGATCAGGAATGGTACCGTCAAGTTGATAAGCATAACAAATTCCACAATCCATAGTAAAATCCTTCAAAAGAAAAATATTTATAAAAAGCGTATGTGTCTCACTAACTTATTCGTTGTACATATTTGGGAGGGTATGTGTGATATTTTGATACATGTATACAGTG... | pathogenic | 38,007 |
Considering the variant on chromosome 2, location 58204170, involving gene FANCL (FA complementation group L), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Fanconi_anemia', 'Fanconi_anemia_complementation_group_L', 'VACTERL_association,_X-linked,_with_or_without_hydrocephalus'] | AAATATTTTTCAGTTAATATTCCTATATGTGGAGTTTTTGTTGTTGTAAATTACTTTTGAAAGTAAAAGTTTGACAATTAGTTGCTGGTGGTTTTATATATACCTATACCTTTTTCCTAAAAAAAAAAAAAAAAAAAAAAGACTTCCTGGTTTTCTTCAAATTCTCATGTTTCCCCAGTGATTACTAGGTAAATGATTAATATGCTGAACTTGTTTATTCTACTTATTTGTCCAAATTCACAATCTAGAACTAACTTTTTTTTCCTAAAAAAAAAAATTATCACATCTCAAAGACAGCTATGGTGTATATATGAAAGCTA... | AAATATTTTTCAGTTAATATTCCTATATGTGGAGTTTTTGTTGTTGTAAATTACTTTTGAAAGTAAAAGTTTGACAATTAGTTGCTGGTGGTTTTATATATACCTATACCTTTTTCCTAAAAAAAAAAAAAAAAAAAAAAGACTTCCTGGTTTTCTTCAAATTCTCATGTTTCCCCAGTGATTACTAGGTAAATGATTAATATGCTGAACTTGTTTATTCTACTTATTTGTCCAAATTCACAATCTAGAACTAACTTTTTTTTCCTAAAAAAAAAAATTATCACATCTCAAAGACAGCTATGGTGTATATATGAAAGCTA... | pathogenic | 38,021 |
The chromosome 2, position 58204222 genetic variant in gene FANCL (FA complementation group L): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Fanconi_anemia', 'Fanconi_anemia_complementation_group_L'] | ACTTTTGAAAGTAAAAGTTTGACAATTAGTTGCTGGTGGTTTTATATATACCTATACCTTTTTCCTAAAAAAAAAAAAAAAAAAAAAAGACTTCCTGGTTTTCTTCAAATTCTCATGTTTCCCCAGTGATTACTAGGTAAATGATTAATATGCTGAACTTGTTTATTCTACTTATTTGTCCAAATTCACAATCTAGAACTAACTTTTTTTTCCTAAAAAAAAAAATTATCACATCTCAAAGACAGCTATGGTGTATATATGAAAGCTAAGCTAAATTGAGAAATAAAGATTCTAATAAATCATACCAACATAAGATTCAG... | ACTTTTGAAAGTAAAAGTTTGACAATTAGTTGCTGGTGGTTTTATATATACCTATACCTTTTTCCTAAAAAAAAAAAAAAAAAAAAAAGACTTCCTGGTTTTCTTCAAATTCTCATGTTTCCCCAGTGATTACTAGGTAAATGATTAATATGCTGAACTTGTTTATTCTACTTATTTGTCCAAATTCACAATCTAGAACTAACTTTTTTTTCCTAAAAAAAAAAATTATCACATCTCAAAGACAGCTATGGTGTATATATGAAAGCTAAGCTAAATTGAGAAATAAAGATTCTAATAAATCATACCAACATAAGATTCAG... | pathogenic | 38,024 |
Gene mutation in FANCL (FA complementation group L) at chromosome 2, position 58221912—is it benign or pathogenic? If pathogenic, specify the disease(s). | benign | TTCATGGCTTCTCATAAAGATAGTGCTATTATCATACAATGGAAGACATCCAAACATAAAATCCCTACTGCATATCTTAGGACTATTTCATACAACATCCTTTAATCCAAGTCAGTGGCATCCTCAAGAGCAATTATACAAGAGAGCAAAATAAAGTAGCTCGGTTCTAATATCCATGGGTAAAACTGAGAAAACATATAAAATAAGATTACAGAGACTTTAAGCAGTCCATCTGCAGTGAAACACTATTACATGCAATCGCGATTTTAGTAAGGTTTTAACAGTTGAAATCCGAGGCTGTAATTTTTATCAAGACCAGG... | TTCATGGCTTCTCATAAAGATAGTGCTATTATCATACAATGGAAGACATCCAAACATAAAATCCCTACTGCATATCTTAGGACTATTTCATACAACATCCTTTAATCCAAGTCAGTGGCATCCTCAAGAGCAATTATACAAGAGAGCAAAATAAAGTAGCTCGGTTCTAATATCCATGGGTAAAACTGAGAAAACATATAAAATAAGATTACAGAGACTTTAAGCAGTCCATCTGCAGTGAAACACTATTACATGCAATCGCGATTTTAGTAAGGTTTTAACAGTTGAAATCCGAGGCTGTAATTTTTATCAAGACCAGG... | benign | 38,029 |
Evaluate if the mutation on chromosome 2 at position 58226708 in FANCL (FA complementation group L) is benign or pathogenic. Disease name(s) if pathogenic? | benign | TGTTAGCAATATTAGTATTGTAATTTTTATATAAACTAACAACACATAGACAGGAAAAGCATAAGTGAAATATAACAAGTAGAACATAACAAAAAACCATACTACAATGATGTTAACATTAGAAAACAGCATTTTCAGAGTAAAAGTGATACAAGCAAACAAGTAAAAATTCTATAATGCCAATTTGAATTGTAAATATCAATACAAACTCATAATTATATTCTTTCCAAAAAGTATTTTTTCTCAGTTTTGTCCACTGAAAAAACCTACAAGTAACAGCAATGCACACTCAAGTTTCCAGATTGAGGCATCCAAATACT... | TGTTAGCAATATTAGTATTGTAATTTTTATATAAACTAACAACACATAGACAGGAAAAGCATAAGTGAAATATAACAAGTAGAACATAACAAAAAACCATACTACAATGATGTTAACATTAGAAAACAGCATTTTCAGAGTAAAAGTGATACAAGCAAACAAGTAAAAATTCTATAATGCCAATTTGAATTGTAAATATCAATACAAACTCATAATTATATTCTTTCCAAAAAGTATTTTTTCTCAGTTTTGTCCACTGAAAAAACCTACAAGTAACAGCAATGCACACTCAAGTTTCCAGATTGAGGCATCCAAATACT... | benign | 38,032 |
Is chromosome 2, position 58241273, gene FANCL (FA complementation group L) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Fanconi_anemia', 'Fanconi_anemia_complementation_group_L'] | CAAAAGGAGACTCTGACAGATGATACCTTAACCAGGTGATCAAAGTTAACATCATTAATAATGGAACCAACCAGGTAACCTCACAAGCCTTGAGAAGGACAAAACAATCTTTCTGTAGTATCCCTGCCAAAAATGCATTAGCTGAATTTAATAGTGAGGAAATATCATCCAAACCCAAATTGAGATACATTCTACCTAACAGCCAATCTGTACTCTTTAAAAATGTCTAGCTTATAAAAAACACAAACAGACTGAGAATTGTTCCAGGTTAGACATGACAACTAAATGTAATGTGGGATCTTAACAACAGATGGTAGGGG... | CAAAAGGAGACTCTGACAGATGATACCTTAACCAGGTGATCAAAGTTAACATCATTAATAATGGAACCAACCAGGTAACCTCACAAGCCTTGAGAAGGACAAAACAATCTTTCTGTAGTATCCCTGCCAAAAATGCATTAGCTGAATTTAATAGTGAGGAAATATCATCCAAACCCAAATTGAGATACATTCTACCTAACAGCCAATCTGTACTCTTTAAAAATGTCTAGCTTATAAAAAACACAAACAGACTGAGAATTGTTCCAGGTTAGACATGACAACTAAATGTAATGTGGGATCTTAACAACAGATGGTAGGGG... | pathogenic | 38,043 |
A genetic alteration at chromosome 2, position 58241285, in gene FANCL (FA complementation group L)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Fanconi_anemia', 'Fanconi_anemia_complementation_group_L'] | CTGACAGATGATACCTTAACCAGGTGATCAAAGTTAACATCATTAATAATGGAACCAACCAGGTAACCTCACAAGCCTTGAGAAGGACAAAACAATCTTTCTGTAGTATCCCTGCCAAAAATGCATTAGCTGAATTTAATAGTGAGGAAATATCATCCAAACCCAAATTGAGATACATTCTACCTAACAGCCAATCTGTACTCTTTAAAAATGTCTAGCTTATAAAAAACACAAACAGACTGAGAATTGTTCCAGGTTAGACATGACAACTAAATGTAATGTGGGATCTTAACAACAGATGGTAGGGGATGGGGGTATAA... | CTGACAGATGATACCTTAACCAGGTGATCAAAGTTAACATCATTAATAATGGAACCAACCAGGTAACCTCACAAGCCTTGAGAAGGACAAAACAATCTTTCTGTAGTATCCCTGCCAAAAATGCATTAGCTGAATTTAATAGTGAGGAAATATCATCCAAACCCAAATTGAGATACATTCTACCTAACAGCCAATCTGTACTCTTTAAAAATGTCTAGCTTATAAAAAACACAAACAGACTGAGAATTGTTCCAGGTTAGACATGACAACTAAATGTAATGTGGGATCTTAACAACAGATGGTAGGGGATGGGGGTATAA... | pathogenic | 38,045 |
Benign or pathogenic: chromosome 2, position 58241300, gene FANCL (FA complementation group L) variant? Disease(s) if pathogenic? | pathogenic; ['Fanconi_anemia', 'Fanconi_anemia_complementation_group_L'] | TTAACCAGGTGATCAAAGTTAACATCATTAATAATGGAACCAACCAGGTAACCTCACAAGCCTTGAGAAGGACAAAACAATCTTTCTGTAGTATCCCTGCCAAAAATGCATTAGCTGAATTTAATAGTGAGGAAATATCATCCAAACCCAAATTGAGATACATTCTACCTAACAGCCAATCTGTACTCTTTAAAAATGTCTAGCTTATAAAAAACACAAACAGACTGAGAATTGTTCCAGGTTAGACATGACAACTAAATGTAATGTGGGATCTTAACAACAGATGGTAGGGGATGGGGGTATAAAACATACAACTGTAT... | TTAACCAGGTGATCAAAGTTAACATCATTAATAATGGAACCAACCAGGTAACCTCACAAGCCTTGAGAAGGACAAAACAATCTTTCTGTAGTATCCCTGCCAAAAATGCATTAGCTGAATTTAATAGTGAGGAAATATCATCCAAACCCAAATTGAGATACATTCTACCTAACAGCCAATCTGTACTCTTTAAAAATGTCTAGCTTATAAAAAACACAAACAGACTGAGAATTGTTCCAGGTTAGACATGACAACTAAATGTAATGTGGGATCTTAACAACAGATGGTAGGGGATGGGGGTATAAAACATACAACTGTAT... | pathogenic | 38,047 |
Clinical significance of chromosome 2, position 60461064, gene BCL11A (BCL11 transcription factor A): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Dias-Logan_syndrome'] | GTCACATTTAAATGCAAGTCTTAAGAATTCATAGTTAATCATCATTGTATCAATATTAGCTTATATACCTGTTCTAGTTTTAAATGGCAAATAGTACCACGTTGTGCTAATAAATCATATTATTTTCTTCTGTTCCCCTCTGTCAAACCTTATTGTCAGCCTCTTCCTTTCAATATGGTATACAAGGTCTTAAAGTTTATCATTTGATTGTCCACTTGACAACCAAGTAGATCTGGATCTATTTCTTTTGGTGCCAGTATTTTTAAAAAGACATTATTAAAGCAAATATCTTCATAAAATGAACTCCTTACTAGTGTATT... | GTCACATTTAAATGCAAGTCTTAAGAATTCATAGTTAATCATCATTGTATCAATATTAGCTTATATACCTGTTCTAGTTTTAAATGGCAAATAGTACCACGTTGTGCTAATAAATCATATTATTTTCTTCTGTTCCCCTCTGTCAAACCTTATTGTCAGCCTCTTCCTTTCAATATGGTATACAAGGTCTTAAAGTTTATCATTTGATTGTCCACTTGACAACCAAGTAGATCTGGATCTATTTCTTTTGGTGCCAGTATTTTTAAAAAGACATTATTAAAGCAAATATCTTCATAAAATGAACTCCTTACTAGTGTATT... | pathogenic | 38,054 |
Considering the variant on chromosome 2, location 60461793, involving gene BCL11A (BCL11 transcription factor A), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Dias-Logan_syndrome'] | GGCCTTTTTTCTTCCTTTCCAATTGATACATTTAACCCTTTAGAGACAGACATTTAGCTCATAGAGATTTTTTTTCAGTGCTATCTATTCTGTCTATAGAGGGTTAATCCAAAGACTGTTTTTCCTCCTCACGTTATAAAATAAAACTGTACATGATATGTATTACAGAATGTATGCAGCATGGTCTTTTTCTCTCTCTCTCTCTTTTTCTCTCAGAACGGAACTGGAAACAGCAACATGTTTGCTCAGCAACGAATTAGGGACAATTTAAAATAGCCATAACATACCATACATGCTGTCTAAGTTTAAAAAAAAACATA... | GGCCTTTTTTCTTCCTTTCCAATTGATACATTTAACCCTTTAGAGACAGACATTTAGCTCATAGAGATTTTTTTTCAGTGCTATCTATTCTGTCTATAGAGGGTTAATCCAAAGACTGTTTTTCCTCCTCACGTTATAAAATAAAACTGTACATGATATGTATTACAGAATGTATGCAGCATGGTCTTTTTCTCTCTCTCTCTCTTTTTCTCTCAGAACGGAACTGGAAACAGCAACATGTTTGCTCAGCAACGAATTAGGGACAATTTAAAATAGCCATAACATACCATACATGCTGTCTAAGTTTAAAAAAAAACATA... | pathogenic | 38,057 |
Is chromosome 2, position 60461833, gene BCL11A (BCL11 transcription factor A) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Dias-Logan_syndrome', 'Neurodevelopmental_delay'] | TAGAGACAGACATTTAGCTCATAGAGATTTTTTTTCAGTGCTATCTATTCTGTCTATAGAGGGTTAATCCAAAGACTGTTTTTCCTCCTCACGTTATAAAATAAAACTGTACATGATATGTATTACAGAATGTATGCAGCATGGTCTTTTTCTCTCTCTCTCTCTTTTTCTCTCAGAACGGAACTGGAAACAGCAACATGTTTGCTCAGCAACGAATTAGGGACAATTTAAAATAGCCATAACATACCATACATGCTGTCTAAGTTTAAAAAAAAACATACACAACATGTAAATTATTGCACAAGAGAAAGGCTCAAAGT... | TAGAGACAGACATTTAGCTCATAGAGATTTTTTTTCAGTGCTATCTATTCTGTCTATAGAGGGTTAATCCAAAGACTGTTTTTCCTCCTCACGTTATAAAATAAAACTGTACATGATATGTATTACAGAATGTATGCAGCATGGTCTTTTTCTCTCTCTCTCTCTTTTTCTCTCAGAACGGAACTGGAAACAGCAACATGTTTGCTCAGCAACGAATTAGGGACAATTTAAAATAGCCATAACATACCATACATGCTGTCTAAGTTTAAAAAAAAACATACACAACATGTAAATTATTGCACAAGAGAAAGGCTCAAAGT... | pathogenic | 38,059 |
Is the genetic change at chromosome 2, position 60462118, within gene BCL11A (BCL11 transcription factor A) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Dias-Logan_syndrome', 'Inborn_genetic_diseases'] | CATGTAAATTATTGCACAAGAGAAAGGCTCAAAGTTTGCGTAAAATGCAATAGTATTGCCCCATACAGATCATGCATTCAAACGGTGAGAACATAAAGGAAAAAAAAAAAAAAGGAAAAAGAAAAAAGAAAAAGAAAAAGAAAAAAAACAGGTGTGCTGGTGACAAGCACTCTCATATTCTTAGCTTCGTTACTTCTGTTTGTTTGTTTGTTTGTTTAAATCACATGGGACTAGAAAAAAATCCTACAGGGAGTGGGGCTGGAGGGCGATGGGGAAGGGGAGTGGTGAAAAAGGGGGTGTCAGGTGGGAGTGAGGGAGGG... | CATGTAAATTATTGCACAAGAGAAAGGCTCAAAGTTTGCGTAAAATGCAATAGTATTGCCCCATACAGATCATGCATTCAAACGGTGAGAACATAAAGGAAAAAAAAAAAAAAGGAAAAAGAAAAAAGAAAAAGAAAAAGAAAAAAAACAGGTGTGCTGGTGACAAGCACTCTCATATTCTTAGCTTCGTTACTTCTGTTTGTTTGTTTGTTTGTTTAAATCACATGGGACTAGAAAAAAATCCTACAGGGAGTGGGGCTGGAGGGCGATGGGGAAGGGGAGTGGTGAAAAAGGGGGTGTCAGGTGGGAGTGAGGGAGGG... | pathogenic | 38,060 |
Does the variant on chromosome 2 at location 61031898 affecting gene PEX13 (peroxisomal biogenesis factor 13) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['PEX13-related_disorder', 'Peroxisome_biogenesis_disorder'] | CTGTACTGAACATGTACAGACTTTATTCCTTGTCATTATTTCCTAAACACTACAGTATAAGTAATTACATACATTTACAGTGTATTAGATACTATAAGCTAGAGATGATTTTAAGTATACAGGAGGATGTGCATAGGTTATATGCAAATGCTATACTATTTTATATTAAGGACTTGAGCATTCATGGATTTTGGTATCTGAAGGAGATTTTGAAACCACTCCCCCACAGATACCAAGGGCTGCCTGTGCTGATACATGCTATAAAATGGATAAACCCTGGAAACATTATGCTAAGTGAAAGAAGCCAGTCACAAAATACT... | CTGTACTGAACATGTACAGACTTTATTCCTTGTCATTATTTCCTAAACACTACAGTATAAGTAATTACATACATTTACAGTGTATTAGATACTATAAGCTAGAGATGATTTTAAGTATACAGGAGGATGTGCATAGGTTATATGCAAATGCTATACTATTTTATATTAAGGACTTGAGCATTCATGGATTTTGGTATCTGAAGGAGATTTTGAAACCACTCCCCCACAGATACCAAGGGCTGCCTGTGCTGATACATGCTATAAAATGGATAAACCCTGGAAACATTATGCTAAGTGAAAGAAGCCAGTCACAAAATACT... | pathogenic | 38,083 |
Is the genetic change at chromosome 2, position 61836030, within gene FAM161A (FAM161 centrosomal protein A) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic | ACTACTGCACTGGCCTGGGCAACAGAGTGAAACCCTGTCTCTAAAAATATTTTTCTAAAAAAATCAGACAGACAATAACAAGTGCTGATGCTATTCACAACAGCAAAGACATGGTAACAACCCAGCCCATCAGCAGTGGATTGGATACAGAAAATATGTTACACATACACCATGGAATACTACACAGCCATAAAAAAGAATGAAATCATGTCCTTTGCAACAATATGGATACAGCTGGAAGCCATTATCCTAAGCAAACTAAAGCAGAAACGGAAAACCAAACATCATATGTTCTCACTTACAAGTGGGAACTAAACACT... | ACTACTGCACTGGCCTGGGCAACAGAGTGAAACCCTGTCTCTAAAAATATTTTTCTAAAAAAATCAGACAGACAATAACAAGTGCTGATGCTATTCACAACAGCAAAGACATGGTAACAACCCAGCCCATCAGCAGTGGATTGGATACAGAAAATATGTTACACATACACCATGGAATACTACACAGCCATAAAAAAGAATGAAATCATGTCCTTTGCAACAATATGGATACAGCTGGAAGCCATTATCCTAAGCAAACTAAAGCAGAAACGGAAAACCAAACATCATATGTTCTCACTTACAAGTGGGAACTAAACACT... | pathogenic | 38,114 |
Chromosome 2, position 61836037, gene FAM161A (FAM161 centrosomal protein A): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Retinitis_pigmentosa_28'] | CACTGGCCTGGGCAACAGAGTGAAACCCTGTCTCTAAAAATATTTTTCTAAAAAAATCAGACAGACAATAACAAGTGCTGATGCTATTCACAACAGCAAAGACATGGTAACAACCCAGCCCATCAGCAGTGGATTGGATACAGAAAATATGTTACACATACACCATGGAATACTACACAGCCATAAAAAAGAATGAAATCATGTCCTTTGCAACAATATGGATACAGCTGGAAGCCATTATCCTAAGCAAACTAAAGCAGAAACGGAAAACCAAACATCATATGTTCTCACTTACAAGTGGGAACTAAACACTGGGTACA... | CACTGGCCTGGGCAACAGAGTGAAACCCTGTCTCTAAAAATATTTTTCTAAAAAAATCAGACAGACAATAACAAGTGCTGATGCTATTCACAACAGCAAAGACATGGTAACAACCCAGCCCATCAGCAGTGGATTGGATACAGAAAATATGTTACACATACACCATGGAATACTACACAGCCATAAAAAAGAATGAAATCATGTCCTTTGCAACAATATGGATACAGCTGGAAGCCATTATCCTAAGCAAACTAAAGCAGAAACGGAAAACCAAACATCATATGTTCTCACTTACAAGTGGGAACTAAACACTGGGTACA... | pathogenic | 38,115 |
The mutation impacting FAM161A (FAM161 centrosomal protein A) on chromosome 2 at position 61838585: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Retinitis_pigmentosa', 'Retinitis_pigmentosa_28'] | CTTTGCTCTTATTTTTTATTATTATTTTATTGTTGTTGTTATTTACTTTTGTTTTGAGATGGAGTCTCATTCTGTTGCTCAGGCTGGTGCGGTGGCACAATCTCAGCTCACTGCAACTTCTACCTCCTGGGTTCATGCAATTCTCGTGCCTCAGCTTCCCGAATAGCTGAGATTACAGGTGTGCACCACCATGCCTGGCTAATTTTCTGTATTTTTAGTAGAGATGAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCTGTCTTGGCCTCTCAAAGTGCTGGGATTACAGGCATG... | CTTTGCTCTTATTTTTTATTATTATTTTATTGTTGTTGTTATTTACTTTTGTTTTGAGATGGAGTCTCATTCTGTTGCTCAGGCTGGTGCGGTGGCACAATCTCAGCTCACTGCAACTTCTACCTCCTGGGTTCATGCAATTCTCGTGCCTCAGCTTCCCGAATAGCTGAGATTACAGGTGTGCACCACCATGCCTGGCTAATTTTCTGTATTTTTAGTAGAGATGAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCTGTCTTGGCCTCTCAAAGTGCTGGGATTACAGGCATG... | pathogenic | 38,116 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 2, position 61839502, gene FAM161A (FAM161 centrosomal protein A). What disease(s) is it linked to if pathogenic? | pathogenic; ['FAM161A-related_disorder', 'Retinal_dystrophy', 'Retinitis_pigmentosa', 'Retinitis_pigmentosa_28'] | TTATACACAAGTTGGTGTTATGAAAAAGCTATTGTCCAGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTAGGCAGATCACCTGAGGTCAGGAGTTTGAGACCAGCTTGGCCAACATGGCAAAACCTCATCTCTACCAAAAATACAAAAATTAGCTAGGCGTGGTGGTGAGCACCTGTAATCCCAGCTACTCTGTAAGCTGAGGCAGGAGAATCGCTTGAACTCGGGATCCAGCCTAGGTGACAGAGCGAGACTCTGTCTCAAAAAAATAAATAAATAAAAAATAAAAAGCTATTAATAGTTTA... | TTATACACAAGTTGGTGTTATGAAAAAGCTATTGTCCAGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTAGGCAGATCACCTGAGGTCAGGAGTTTGAGACCAGCTTGGCCAACATGGCAAAACCTCATCTCTACCAAAAATACAAAAATTAGCTAGGCGTGGTGGTGAGCACCTGTAATCCCAGCTACTCTGTAAGCTGAGGCAGGAGAATCGCTTGAACTCGGGATCCAGCCTAGGTGACAGAGCGAGACTCTGTCTCAAAAAAATAAATAAATAAAAAATAAAAAGCTATTAATAGTTTA... | pathogenic | 38,126 |
Benign or pathogenic: chromosome 2, position 61839598, gene FAM161A (FAM161 centrosomal protein A) variant? Disease(s) if pathogenic? | pathogenic; ['Retinal_dystrophy'] | CCTGAGGTCAGGAGTTTGAGACCAGCTTGGCCAACATGGCAAAACCTCATCTCTACCAAAAATACAAAAATTAGCTAGGCGTGGTGGTGAGCACCTGTAATCCCAGCTACTCTGTAAGCTGAGGCAGGAGAATCGCTTGAACTCGGGATCCAGCCTAGGTGACAGAGCGAGACTCTGTCTCAAAAAAATAAATAAATAAAAAATAAAAAGCTATTAATAGTTTACTTCCTAAGGGTAAGTAATCTATTTCTAAGAAACATTATGCTCACGTTCATCAAATTAAGCTCCCTTTATCAATGGATTAAAGCTAAATTATAAAA... | CCTGAGGTCAGGAGTTTGAGACCAGCTTGGCCAACATGGCAAAACCTCATCTCTACCAAAAATACAAAAATTAGCTAGGCGTGGTGGTGAGCACCTGTAATCCCAGCTACTCTGTAAGCTGAGGCAGGAGAATCGCTTGAACTCGGGATCCAGCCTAGGTGACAGAGCGAGACTCTGTCTCAAAAAAATAAATAAATAAAAAATAAAAAGCTATTAATAGTTTACTTCCTAAGGGTAAGTAATCTATTTCTAAGAAACATTATGCTCACGTTCATCAAATTAAGCTCCCTTTATCAATGGATTAAAGCTAAATTATAAAA... | pathogenic | 38,129 |
The mutation impacting FAM161A (FAM161 centrosomal protein A) on chromosome 2 at position 61839647: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Retinal_dystrophy', 'Retinitis_pigmentosa', 'Retinitis_pigmentosa_28'] | TCTCTACCAAAAATACAAAAATTAGCTAGGCGTGGTGGTGAGCACCTGTAATCCCAGCTACTCTGTAAGCTGAGGCAGGAGAATCGCTTGAACTCGGGATCCAGCCTAGGTGACAGAGCGAGACTCTGTCTCAAAAAAATAAATAAATAAAAAATAAAAAGCTATTAATAGTTTACTTCCTAAGGGTAAGTAATCTATTTCTAAGAAACATTATGCTCACGTTCATCAAATTAAGCTCCCTTTATCAATGGATTAAAGCTAAATTATAAAAGAATACTCATTGTAATTAAAAGCACATATGCATATTTAGAAATCAGATT... | TCTCTACCAAAAATACAAAAATTAGCTAGGCGTGGTGGTGAGCACCTGTAATCCCAGCTACTCTGTAAGCTGAGGCAGGAGAATCGCTTGAACTCGGGATCCAGCCTAGGTGACAGAGCGAGACTCTGTCTCAAAAAAATAAATAAATAAAAAATAAAAAGCTATTAATAGTTTACTTCCTAAGGGTAAGTAATCTATTTCTAAGAAACATTATGCTCACGTTCATCAAATTAAGCTCCCTTTATCAATGGATTAAAGCTAAATTATAAAAGAATACTCATTGTAATTAAAAGCACATATGCATATTTAGAAATCAGATT... | pathogenic | 38,130 |
Located at chromosome 2 position 61839651, the variant affecting gene FAM161A (FAM161 centrosomal protein A)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Retinitis_pigmentosa_28'] | TACCAAAAATACAAAAATTAGCTAGGCGTGGTGGTGAGCACCTGTAATCCCAGCTACTCTGTAAGCTGAGGCAGGAGAATCGCTTGAACTCGGGATCCAGCCTAGGTGACAGAGCGAGACTCTGTCTCAAAAAAATAAATAAATAAAAAATAAAAAGCTATTAATAGTTTACTTCCTAAGGGTAAGTAATCTATTTCTAAGAAACATTATGCTCACGTTCATCAAATTAAGCTCCCTTTATCAATGGATTAAAGCTAAATTATAAAAGAATACTCATTGTAATTAAAAGCACATATGCATATTTAGAAATCAGATTAAAA... | TACCAAAAATACAAAAATTAGCTAGGCGTGGTGGTGAGCACCTGTAATCCCAGCTACTCTGTAAGCTGAGGCAGGAGAATCGCTTGAACTCGGGATCCAGCCTAGGTGACAGAGCGAGACTCTGTCTCAAAAAAATAAATAAATAAAAAATAAAAAGCTATTAATAGTTTACTTCCTAAGGGTAAGTAATCTATTTCTAAGAAACATTATGCTCACGTTCATCAAATTAAGCTCCCTTTATCAATGGATTAAAGCTAAATTATAAAAGAATACTCATTGTAATTAAAAGCACATATGCATATTTAGAAATCAGATTAAAA... | pathogenic | 38,131 |
Variant in FAM161A (FAM161 centrosomal protein A), chromosome 2, position 61839682—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Inborn_genetic_diseases', 'Retinitis_pigmentosa', 'Retinitis_pigmentosa_28'] | TGGTGAGCACCTGTAATCCCAGCTACTCTGTAAGCTGAGGCAGGAGAATCGCTTGAACTCGGGATCCAGCCTAGGTGACAGAGCGAGACTCTGTCTCAAAAAAATAAATAAATAAAAAATAAAAAGCTATTAATAGTTTACTTCCTAAGGGTAAGTAATCTATTTCTAAGAAACATTATGCTCACGTTCATCAAATTAAGCTCCCTTTATCAATGGATTAAAGCTAAATTATAAAAGAATACTCATTGTAATTAAAAGCACATATGCATATTTAGAAATCAGATTAAAAAGTAATAAATCACATTACTTACCTGGCTTTG... | TGGTGAGCACCTGTAATCCCAGCTACTCTGTAAGCTGAGGCAGGAGAATCGCTTGAACTCGGGATCCAGCCTAGGTGACAGAGCGAGACTCTGTCTCAAAAAAATAAATAAATAAAAAATAAAAAGCTATTAATAGTTTACTTCCTAAGGGTAAGTAATCTATTTCTAAGAAACATTATGCTCACGTTCATCAAATTAAGCTCCCTTTATCAATGGATTAAAGCTAAATTATAAAAGAATACTCATTGTAATTAAAAGCACATATGCATATTTAGAAATCAGATTAAAAAGTAATAAATCACATTACTTACCTGGCTTTG... | pathogenic | 38,132 |
Evaluate if the mutation on chromosome 2 at position 61839753 in FAM161A (FAM161 centrosomal protein A) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Retinitis_pigmentosa_28'] | TAGGTGACAGAGCGAGACTCTGTCTCAAAAAAATAAATAAATAAAAAATAAAAAGCTATTAATAGTTTACTTCCTAAGGGTAAGTAATCTATTTCTAAGAAACATTATGCTCACGTTCATCAAATTAAGCTCCCTTTATCAATGGATTAAAGCTAAATTATAAAAGAATACTCATTGTAATTAAAAGCACATATGCATATTTAGAAATCAGATTAAAAAGTAATAAATCACATTACTTACCTGGCTTTGAGGGAGATAGTTTCCTACTTAAACATCAACATTTTTATGTGCAACATCTGGAACACTGGTTTTCAAACTTT... | TAGGTGACAGAGCGAGACTCTGTCTCAAAAAAATAAATAAATAAAAAATAAAAAGCTATTAATAGTTTACTTCCTAAGGGTAAGTAATCTATTTCTAAGAAACATTATGCTCACGTTCATCAAATTAAGCTCCCTTTATCAATGGATTAAAGCTAAATTATAAAAGAATACTCATTGTAATTAAAAGCACATATGCATATTTAGAAATCAGATTAAAAAGTAATAAATCACATTACTTACCTGGCTTTGAGGGAGATAGTTTCCTACTTAAACATCAACATTTTTATGTGCAACATCTGGAACACTGGTTTTCAAACTTT... | pathogenic | 38,134 |
Mutation found at chromosome 2 position 61839894, gene FAM161A (FAM161 centrosomal protein A): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Retinal_dystrophy', 'Retinitis_pigmentosa_28'] | ATGGATTAAAGCTAAATTATAAAAGAATACTCATTGTAATTAAAAGCACATATGCATATTTAGAAATCAGATTAAAAAGTAATAAATCACATTACTTACCTGGCTTTGAGGGAGATAGTTTCCTACTTAAACATCAACATTTTTATGTGCAACATCTGGAACACTGGTTTTCAAACTTTGTACTGCAAAATTCTAGTGAAGGGGTTCTAAGAATTCCGTGAATATTTTTATATTGAAACTAACAAAATGCAACACATACTACTAAACATTAACATATGTGCTAATGAACACATCACATAACCGATGTTTAACGTGTTAAT... | ATGGATTAAAGCTAAATTATAAAAGAATACTCATTGTAATTAAAAGCACATATGCATATTTAGAAATCAGATTAAAAAGTAATAAATCACATTACTTACCTGGCTTTGAGGGAGATAGTTTCCTACTTAAACATCAACATTTTTATGTGCAACATCTGGAACACTGGTTTTCAAACTTTGTACTGCAAAATTCTAGTGAAGGGGTTCTAAGAATTCCGTGAATATTTTTATATTGAAACTAACAAAATGCAACACATACTACTAAACATTAACATATGTGCTAATGAACACATCACATAACCGATGTTTAACGTGTTAAT... | pathogenic | 38,139 |
Variant on chromosome 2, at position 61839969, affecting FAM161A (FAM161 centrosomal protein A): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic | AAAGTAATAAATCACATTACTTACCTGGCTTTGAGGGAGATAGTTTCCTACTTAAACATCAACATTTTTATGTGCAACATCTGGAACACTGGTTTTCAAACTTTGTACTGCAAAATTCTAGTGAAGGGGTTCTAAGAATTCCGTGAATATTTTTATATTGAAACTAACAAAATGCAACACATACTACTAAACATTAACATATGTGCTAATGAACACATCACATAACCGATGTTTAACGTGTTAATTTGTGCTATCAGATTTCATCCAAACCTTAGAACAAAGCTCTTTGATATATCTGTTTACTGCAATCAAAAATAATA... | AAAGTAATAAATCACATTACTTACCTGGCTTTGAGGGAGATAGTTTCCTACTTAAACATCAACATTTTTATGTGCAACATCTGGAACACTGGTTTTCAAACTTTGTACTGCAAAATTCTAGTGAAGGGGTTCTAAGAATTCCGTGAATATTTTTATATTGAAACTAACAAAATGCAACACATACTACTAAACATTAACATATGTGCTAATGAACACATCACATAACCGATGTTTAACGTGTTAATTTGTGCTATCAGATTTCATCCAAACCTTAGAACAAAGCTCTTTGATATATCTGTTTACTGCAATCAAAAATAATA... | pathogenic | 38,142 |
Determine whether the variant at chromosome 2, position 61840273, in gene FAM161A (FAM161 centrosomal protein A) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Retinal_dystrophy'] | GCAATCAAAAATAATATAAAGAACAAGATCAGATATTGGTATAAGATTATAACCATTAACTAAGGCCACAATAGAAAATGTCTGTATTCATCAACATAGCTTCATGGTTCTCACCATAAAGGTGAGTTTATATGTTGGTTCTCACCATGAGGTGAGTGTGTGTGCACTGAACACAAGTAACTGATGACAATTTAAATCCATAAGCTAAAACACTAATGCTATTTTCAATCTGCTCATATTTTACTATCTACTGATTAAAAAAAAAAGAGTTTGAAAACCAGTGGTCTGGAGATTCAAGATTTTTTCATGATACCTGAGAC... | GCAATCAAAAATAATATAAAGAACAAGATCAGATATTGGTATAAGATTATAACCATTAACTAAGGCCACAATAGAAAATGTCTGTATTCATCAACATAGCTTCATGGTTCTCACCATAAAGGTGAGTTTATATGTTGGTTCTCACCATGAGGTGAGTGTGTGTGCACTGAACACAAGTAACTGATGACAATTTAAATCCATAAGCTAAAACACTAATGCTATTTTCAATCTGCTCATATTTTACTATCTACTGATTAAAAAAAAAAGAGTTTGAAAACCAGTGGTCTGGAGATTCAAGATTTTTTCATGATACCTGAGAC... | pathogenic | 38,148 |
Chromosome 2, position 61840303, gene FAM161A (FAM161 centrosomal protein A): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Retinitis_pigmentosa_28'] | AGATATTGGTATAAGATTATAACCATTAACTAAGGCCACAATAGAAAATGTCTGTATTCATCAACATAGCTTCATGGTTCTCACCATAAAGGTGAGTTTATATGTTGGTTCTCACCATGAGGTGAGTGTGTGTGCACTGAACACAAGTAACTGATGACAATTTAAATCCATAAGCTAAAACACTAATGCTATTTTCAATCTGCTCATATTTTACTATCTACTGATTAAAAAAAAAAGAGTTTGAAAACCAGTGGTCTGGAGATTCAAGATTTTTTCATGATACCTGAGACATTTTACTCTGGATTTAGATATTTGAGCTA... | AGATATTGGTATAAGATTATAACCATTAACTAAGGCCACAATAGAAAATGTCTGTATTCATCAACATAGCTTCATGGTTCTCACCATAAAGGTGAGTTTATATGTTGGTTCTCACCATGAGGTGAGTGTGTGTGCACTGAACACAAGTAACTGATGACAATTTAAATCCATAAGCTAAAACACTAATGCTATTTTCAATCTGCTCATATTTTACTATCTACTGATTAAAAAAAAAAGAGTTTGAAAACCAGTGGTCTGGAGATTCAAGATTTTTTCATGATACCTGAGACATTTTACTCTGGATTTAGATATTTGAGCTA... | pathogenic | 38,150 |
Does the variant impacting FAM161A (FAM161 centrosomal protein A) on chromosome 2, position 61840313, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Retinal_dystrophy'] | ATAAGATTATAACCATTAACTAAGGCCACAATAGAAAATGTCTGTATTCATCAACATAGCTTCATGGTTCTCACCATAAAGGTGAGTTTATATGTTGGTTCTCACCATGAGGTGAGTGTGTGTGCACTGAACACAAGTAACTGATGACAATTTAAATCCATAAGCTAAAACACTAATGCTATTTTCAATCTGCTCATATTTTACTATCTACTGATTAAAAAAAAAAGAGTTTGAAAACCAGTGGTCTGGAGATTCAAGATTTTTTCATGATACCTGAGACATTTTACTCTGGATTTAGATATTTGAGCTAAACTTTGATG... | ATAAGATTATAACCATTAACTAAGGCCACAATAGAAAATGTCTGTATTCATCAACATAGCTTCATGGTTCTCACCATAAAGGTGAGTTTATATGTTGGTTCTCACCATGAGGTGAGTGTGTGTGCACTGAACACAAGTAACTGATGACAATTTAAATCCATAAGCTAAAACACTAATGCTATTTTCAATCTGCTCATATTTTACTATCTACTGATTAAAAAAAAAAGAGTTTGAAAACCAGTGGTCTGGAGATTCAAGATTTTTTCATGATACCTGAGACATTTTACTCTGGATTTAGATATTTGAGCTAAACTTTGATG... | pathogenic | 38,151 |
Evaluate this variant at chromosome 2, position 61840443, gene FAM161A (FAM161 centrosomal protein A): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Retinitis_pigmentosa_28'] | ACACAAGTAACTGATGACAATTTAAATCCATAAGCTAAAACACTAATGCTATTTTCAATCTGCTCATATTTTACTATCTACTGATTAAAAAAAAAAGAGTTTGAAAACCAGTGGTCTGGAGATTCAAGATTTTTTCATGATACCTGAGACATTTTACTCTGGATTTAGATATTTGAGCTAAACTTTGATGTGAGTCATAAGCCTTAGCCCGGGTTGTCAGGAGTTTCTGCAATTCTTTCATTCTTTGCTTCTGTTTAGTTAGGATCCGATTTCTCTCTTCTTCCAACATTTTCTTTTCCTCAAGTGATCTCCTGAGGGTA... | ACACAAGTAACTGATGACAATTTAAATCCATAAGCTAAAACACTAATGCTATTTTCAATCTGCTCATATTTTACTATCTACTGATTAAAAAAAAAAGAGTTTGAAAACCAGTGGTCTGGAGATTCAAGATTTTTTCATGATACCTGAGACATTTTACTCTGGATTTAGATATTTGAGCTAAACTTTGATGTGAGTCATAAGCCTTAGCCCGGGTTGTCAGGAGTTTCTGCAATTCTTTCATTCTTTGCTTCTGTTTAGTTAGGATCCGATTTCTCTCTTCTTCCAACATTTTCTTTTCCTCAAGTGATCTCCTGAGGGTA... | pathogenic | 38,153 |
Regarding the variant found on chromosome 2 at position 61840507 in gene FAM161A (FAM161 centrosomal protein A): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Retinitis_pigmentosa_28'] | CATATTTTACTATCTACTGATTAAAAAAAAAAGAGTTTGAAAACCAGTGGTCTGGAGATTCAAGATTTTTTCATGATACCTGAGACATTTTACTCTGGATTTAGATATTTGAGCTAAACTTTGATGTGAGTCATAAGCCTTAGCCCGGGTTGTCAGGAGTTTCTGCAATTCTTTCATTCTTTGCTTCTGTTTAGTTAGGATCCGATTTCTCTCTTCTTCCAACATTTTCTTTTCCTCAAGTGATCTCCTGAGGGTAACAAACTAAGGCTTAATCCACTTTAAGCCAATCAGAATGTTGTTTAGCAAAGATTTAACATGGG... | CATATTTTACTATCTACTGATTAAAAAAAAAAGAGTTTGAAAACCAGTGGTCTGGAGATTCAAGATTTTTTCATGATACCTGAGACATTTTACTCTGGATTTAGATATTTGAGCTAAACTTTGATGTGAGTCATAAGCCTTAGCCCGGGTTGTCAGGAGTTTCTGCAATTCTTTCATTCTTTGCTTCTGTTTAGTTAGGATCCGATTTCTCTCTTCTTCCAACATTTTCTTTTCCTCAAGTGATCTCCTGAGGGTAACAAACTAAGGCTTAATCCACTTTAAGCCAATCAGAATGTTGTTTAGCAAAGATTTAACATGGG... | pathogenic | 38,154 |
For chromosome 2, position 61840554, gene FAM161A (FAM161 centrosomal protein A): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Retinitis_pigmentosa_28'] | TGGTCTGGAGATTCAAGATTTTTTCATGATACCTGAGACATTTTACTCTGGATTTAGATATTTGAGCTAAACTTTGATGTGAGTCATAAGCCTTAGCCCGGGTTGTCAGGAGTTTCTGCAATTCTTTCATTCTTTGCTTCTGTTTAGTTAGGATCCGATTTCTCTCTTCTTCCAACATTTTCTTTTCCTCAAGTGATCTCCTGAGGGTAACAAACTAAGGCTTAATCCACTTTAAGCCAATCAGAATGTTGTTTAGCAAAGATTTAACATGGGATAATTTGAATTTTGATAATTCAAAATTTGAAAAAAGGTAACCTTTT... | TGGTCTGGAGATTCAAGATTTTTTCATGATACCTGAGACATTTTACTCTGGATTTAGATATTTGAGCTAAACTTTGATGTGAGTCATAAGCCTTAGCCCGGGTTGTCAGGAGTTTCTGCAATTCTTTCATTCTTTGCTTCTGTTTAGTTAGGATCCGATTTCTCTCTTCTTCCAACATTTTCTTTTCCTCAAGTGATCTCCTGAGGGTAACAAACTAAGGCTTAATCCACTTTAAGCCAATCAGAATGTTGTTTAGCAAAGATTTAACATGGGATAATTTGAATTTTGATAATTCAAAATTTGAAAAAAGGTAACCTTTT... | pathogenic | 38,156 |
Does the variant impacting FAM161A (FAM161 centrosomal protein A) on chromosome 2, position 61842175, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Retinitis_pigmentosa_28'] | GAAAGACAGATGCAGGAACTGGATTGGCTCGGAATTTCTTCTTATACTCTGGATCCTCTTCTTGTTTTTTGAGCGCTTTATGTACCATTTCGATATCTGATTTAGATTTCATGGACTCTTCTTTTTTCTTCTGTTCTCTTATCATCATTTGAAAAGGCTCCGGTACTGTAATTGTGGGCACCCATTCTTTTCGTTTCTTCCTTCTTTTTTCAGCTGCATGGAAGCCAGTATCTTTACAGCGAATATAATCCTCAACACAAAAGTCTGTCCACATATTGTTGATGAGCTCCTTAGCATAGGTCATCATTCTGTTTTTCCTA... | GAAAGACAGATGCAGGAACTGGATTGGCTCGGAATTTCTTCTTATACTCTGGATCCTCTTCTTGTTTTTTGAGCGCTTTATGTACCATTTCGATATCTGATTTAGATTTCATGGACTCTTCTTTTTTCTTCTGTTCTCTTATCATCATTTGAAAAGGCTCCGGTACTGTAATTGTGGGCACCCATTCTTTTCGTTTCTTCCTTCTTTTTTCAGCTGCATGGAAGCCAGTATCTTTACAGCGAATATAATCCTCAACACAAAAGTCTGTCCACATATTGTTGATGAGCTCCTTAGCATAGGTCATCATTCTGTTTTTCCTA... | pathogenic | 38,159 |
Variant in gene FAM161A (FAM161 centrosomal protein A), located at chromosome 2 position 61842207: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Retinitis_pigmentosa_28'] | AATTTCTTCTTATACTCTGGATCCTCTTCTTGTTTTTTGAGCGCTTTATGTACCATTTCGATATCTGATTTAGATTTCATGGACTCTTCTTTTTTCTTCTGTTCTCTTATCATCATTTGAAAAGGCTCCGGTACTGTAATTGTGGGCACCCATTCTTTTCGTTTCTTCCTTCTTTTTTCAGCTGCATGGAAGCCAGTATCTTTACAGCGAATATAATCCTCAACACAAAAGTCTGTCCACATATTGTTGATGAGCTCCTTAGCATAGGTCATCATTCTGTTTTTCCTAGGATACTCTTTTTCTAGGTTGGGTAACTCCTC... | AATTTCTTCTTATACTCTGGATCCTCTTCTTGTTTTTTGAGCGCTTTATGTACCATTTCGATATCTGATTTAGATTTCATGGACTCTTCTTTTTTCTTCTGTTCTCTTATCATCATTTGAAAAGGCTCCGGTACTGTAATTGTGGGCACCCATTCTTTTCGTTTCTTCCTTCTTTTTTCAGCTGCATGGAAGCCAGTATCTTTACAGCGAATATAATCCTCAACACAAAAGTCTGTCCACATATTGTTGATGAGCTCCTTAGCATAGGTCATCATTCTGTTTTTCCTAGGATACTCTTTTTCTAGGTTGGGTAACTCCTC... | pathogenic | 38,160 |
Variant chromosome 2, position 61842243, gene FAM161A (FAM161 centrosomal protein A): benign or pathogenic? Disease(s)? | pathogenic; ['Retinitis_pigmentosa_28'] | TTGAGCGCTTTATGTACCATTTCGATATCTGATTTAGATTTCATGGACTCTTCTTTTTTCTTCTGTTCTCTTATCATCATTTGAAAAGGCTCCGGTACTGTAATTGTGGGCACCCATTCTTTTCGTTTCTTCCTTCTTTTTTCAGCTGCATGGAAGCCAGTATCTTTACAGCGAATATAATCCTCAACACAAAAGTCTGTCCACATATTGTTGATGAGCTCCTTAGCATAGGTCATCATTCTGTTTTTCCTAGGATACTCTTTTTCTAGGTTGGGTAACTCCTCTTCAGAGGAGGACACATACAAGGAGGAAGACTGGCC... | TTGAGCGCTTTATGTACCATTTCGATATCTGATTTAGATTTCATGGACTCTTCTTTTTTCTTCTGTTCTCTTATCATCATTTGAAAAGGCTCCGGTACTGTAATTGTGGGCACCCATTCTTTTCGTTTCTTCCTTCTTTTTTCAGCTGCATGGAAGCCAGTATCTTTACAGCGAATATAATCCTCAACACAAAAGTCTGTCCACATATTGTTGATGAGCTCCTTAGCATAGGTCATCATTCTGTTTTTCCTAGGATACTCTTTTTCTAGGTTGGGTAACTCCTCTTCAGAGGAGGACACATACAAGGAGGAAGACTGGCC... | pathogenic | 38,162 |
Is the chromosome 2, position 61842249 variant in FAM161A (FAM161 centrosomal protein A) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Retinitis_pigmentosa_28'] | GCTTTATGTACCATTTCGATATCTGATTTAGATTTCATGGACTCTTCTTTTTTCTTCTGTTCTCTTATCATCATTTGAAAAGGCTCCGGTACTGTAATTGTGGGCACCCATTCTTTTCGTTTCTTCCTTCTTTTTTCAGCTGCATGGAAGCCAGTATCTTTACAGCGAATATAATCCTCAACACAAAAGTCTGTCCACATATTGTTGATGAGCTCCTTAGCATAGGTCATCATTCTGTTTTTCCTAGGATACTCTTTTTCTAGGTTGGGTAACTCCTCTTCAGAGGAGGACACATACAAGGAGGAAGACTGGCCTAAATC... | GCTTTATGTACCATTTCGATATCTGATTTAGATTTCATGGACTCTTCTTTTTTCTTCTGTTCTCTTATCATCATTTGAAAAGGCTCCGGTACTGTAATTGTGGGCACCCATTCTTTTCGTTTCTTCCTTCTTTTTTCAGCTGCATGGAAGCCAGTATCTTTACAGCGAATATAATCCTCAACACAAAAGTCTGTCCACATATTGTTGATGAGCTCCTTAGCATAGGTCATCATTCTGTTTTTCCTAGGATACTCTTTTTCTAGGTTGGGTAACTCCTCTTCAGAGGAGGACACATACAAGGAGGAAGACTGGCCTAAATC... | pathogenic | 38,163 |
The genetic variant at chromosome 2, position 61842256, affecting gene FAM161A (FAM161 centrosomal protein A): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Retinitis_pigmentosa_28'] | GTACCATTTCGATATCTGATTTAGATTTCATGGACTCTTCTTTTTTCTTCTGTTCTCTTATCATCATTTGAAAAGGCTCCGGTACTGTAATTGTGGGCACCCATTCTTTTCGTTTCTTCCTTCTTTTTTCAGCTGCATGGAAGCCAGTATCTTTACAGCGAATATAATCCTCAACACAAAAGTCTGTCCACATATTGTTGATGAGCTCCTTAGCATAGGTCATCATTCTGTTTTTCCTAGGATACTCTTTTTCTAGGTTGGGTAACTCCTCTTCAGAGGAGGACACATACAAGGAGGAAGACTGGCCTAAATCAGGCTCT... | GTACCATTTCGATATCTGATTTAGATTTCATGGACTCTTCTTTTTTCTTCTGTTCTCTTATCATCATTTGAAAAGGCTCCGGTACTGTAATTGTGGGCACCCATTCTTTTCGTTTCTTCCTTCTTTTTTCAGCTGCATGGAAGCCAGTATCTTTACAGCGAATATAATCCTCAACACAAAAGTCTGTCCACATATTGTTGATGAGCTCCTTAGCATAGGTCATCATTCTGTTTTTCCTAGGATACTCTTTTTCTAGGTTGGGTAACTCCTCTTCAGAGGAGGACACATACAAGGAGGAAGACTGGCCTAAATCAGGCTCT... | pathogenic | 38,164 |
Is chromosome 2, position 63404134, gene WDPCP (WD repeat containing planar cell polarity effector) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Bardet-Biedl_syndrome'] | ACTGAATAAAGAAAATGTGGTACATATACACCATGGAATACTATGAAGCCATAAAAAAGAATGAGATCATGTCCTTTGCCGGGACATGGACGAAGCTGGAAGCCGTCATCCTCAGCAAACTAACACAGGAAAAGAAAACCAAACATCACATTTTCTCATTCATAAGTGACAGTTGAACAATGAGAATACATGGACACAGGGAGGGGAACAACACACACAAGGGCCTGTTGGGGGTGGGGAGCAAGGAGAGGGAGAGCATTAGGACAAATACCTAATGCATGCAGGGCTTAAAACCTAGATGACAGGTTGATAGGTGTAGC... | ACTGAATAAAGAAAATGTGGTACATATACACCATGGAATACTATGAAGCCATAAAAAAGAATGAGATCATGTCCTTTGCCGGGACATGGACGAAGCTGGAAGCCGTCATCCTCAGCAAACTAACACAGGAAAAGAAAACCAAACATCACATTTTCTCATTCATAAGTGACAGTTGAACAATGAGAATACATGGACACAGGGAGGGGAACAACACACACAAGGGCCTGTTGGGGGTGGGGAGCAAGGAGAGGGAGAGCATTAGGACAAATACCTAATGCATGCAGGGCTTAAAACCTAGATGACAGGTTGATAGGTGTAGC... | pathogenic | 38,192 |
Gene WDPCP (WD repeat containing planar cell polarity effector) variant at chromosome 2, position 63437500—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Bardet-Biedl_syndrome', 'Heart_defect_-_tongue_hamartoma_-_polysyndactyly_syndrome'] | GAGAGAAATACCACGATGAAATTGCTAAGTACTTAAAAATACACATACATTATTTCAATGTCTGATTTGCTGCATAAGTGTGTTACCTATGAATTTCTAGATGAGGAAATTGAGTCACAATGAGTGACTGACATTTTCAGTTGTCACATAATGCAAATCACTTACGTTATGAAATGTTAGGAAATTTCATGTTTCCTATGAGTTTAATATTATCAGTATTCTGTCATGATGACCAAGAGGGAATGTAAAATAAACAAATTTCTTAAAATATCCTTCCAATGGACAAATAGCAGATTTGACTAAGTATTAAAAATATACAT... | GAGAGAAATACCACGATGAAATTGCTAAGTACTTAAAAATACACATACATTATTTCAATGTCTGATTTGCTGCATAAGTGTGTTACCTATGAATTTCTAGATGAGGAAATTGAGTCACAATGAGTGACTGACATTTTCAGTTGTCACATAATGCAAATCACTTACGTTATGAAATGTTAGGAAATTTCATGTTTCCTATGAGTTTAATATTATCAGTATTCTGTCATGATGACCAAGAGGGAATGTAAAATAAACAAATTTCTTAAAATATCCTTCCAATGGACAAATAGCAGATTTGACTAAGTATTAAAAATATACAT... | pathogenic | 38,205 |
Is chromosome 2, position 63437538, gene WDPCP (WD repeat containing planar cell polarity effector) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Bardet-Biedl_syndrome', 'Bardet-Biedl_syndrome_15', 'Heart_defect_-_tongue_hamartoma_-_polysyndactyly_syndrome', 'WDPCP-related_disorder'] | ATACACATACATTATTTCAATGTCTGATTTGCTGCATAAGTGTGTTACCTATGAATTTCTAGATGAGGAAATTGAGTCACAATGAGTGACTGACATTTTCAGTTGTCACATAATGCAAATCACTTACGTTATGAAATGTTAGGAAATTTCATGTTTCCTATGAGTTTAATATTATCAGTATTCTGTCATGATGACCAAGAGGGAATGTAAAATAAACAAATTTCTTAAAATATCCTTCCAATGGACAAATAGCAGATTTGACTAAGTATTAAAAATATACATTTTAAATATTAAACCAGGAAATGAAATTAATGAGTTTT... | ATACACATACATTATTTCAATGTCTGATTTGCTGCATAAGTGTGTTACCTATGAATTTCTAGATGAGGAAATTGAGTCACAATGAGTGACTGACATTTTCAGTTGTCACATAATGCAAATCACTTACGTTATGAAATGTTAGGAAATTTCATGTTTCCTATGAGTTTAATATTATCAGTATTCTGTCATGATGACCAAGAGGGAATGTAAAATAAACAAATTTCTTAAAATATCCTTCCAATGGACAAATAGCAGATTTGACTAAGTATTAAAAATATACATTTTAAATATTAAACCAGGAAATGAAATTAATGAGTTTT... | pathogenic | 38,207 |
Is chromosome 2, position 63485001, gene WDPCP (WD repeat containing planar cell polarity effector) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | benign | TTTTATCATGAAAATTCCCTTTCTGAGTTGAATTAATGTAATAGTGAGGGACATTCTTCTCCAGACATCCCTTCGTCAGACACACACACAAAATTACTATTAAATTAAAATTCATTAAACTCTATCTAAAAAGGATTGTCTTTTGGGATGCTCCACTGCATATTTTAAGATGCCCGACATGTTCCAATTTACCCTGTGTGATGGGTAAGGGTGGAGGCCATGAGACATGCCTCTTACTATAGGTGGCAGGCTGGCCCTCTGGTCAAATAATTCTGAGCCTGTTTTTAACGTGAGTAATGGCATTAAAAACTACAAGTTTG... | TTTTATCATGAAAATTCCCTTTCTGAGTTGAATTAATGTAATAGTGAGGGACATTCTTCTCCAGACATCCCTTCGTCAGACACACACACAAAATTACTATTAAATTAAAATTCATTAAACTCTATCTAAAAAGGATTGTCTTTTGGGATGCTCCACTGCATATTTTAAGATGCCCGACATGTTCCAATTTACCCTGTGTGATGGGTAAGGGTGGAGGCCATGAGACATGCCTCTTACTATAGGTGGCAGGCTGGCCCTCTGGTCAAATAATTCTGAGCCTGTTTTTAACGTGAGTAATGGCATTAAAAACTACAAGTTTG... | benign | 38,212 |
Variant at chromosome 2, position 69072956, gene ANTXR1 (ANTXR cell adhesion molecule 1): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | benign | TGGATTCCCTTCCTTCTTCCCTGACCCTGATGAATGGTTTGTTAGCTAATGGTTGGCTGGCAGTCACAAATTCACGCCACACACAAGTCCCGCCACTCCAAAAATGTCCTTTGTTGGATGTCAGCTTCAGTGATTGAGGCAGAATTTCAGGGACTTCAGCTTTAAGGGAAACAAGACCATAAGGAATAAGACATCAATCCGTGCTGACAACTACAGTCATCTGTCACTTAACAAGTACTAGGCCATAAGGAATAAGACATCAATCCATGTTGACAACTACAGTCATCTATCACTTAACAACAAGGATTTCAACAAAATGC... | TGGATTCCCTTCCTTCTTCCCTGACCCTGATGAATGGTTTGTTAGCTAATGGTTGGCTGGCAGTCACAAATTCACGCCACACACAAGTCCCGCCACTCCAAAAATGTCCTTTGTTGGATGTCAGCTTCAGTGATTGAGGCAGAATTTCAGGGACTTCAGCTTTAAGGGAAACAAGACCATAAGGAATAAGACATCAATCCGTGCTGACAACTACAGTCATCTGTCACTTAACAAGTACTAGGCCATAAGGAATAAGACATCAATCCATGTTGACAACTACAGTCATCTATCACTTAACAACAAGGATTTCAACAAAATGC... | benign | 38,295 |
Variant chromosome 2, position 69193459, gene ANTXR1 (ANTXR cell adhesion molecule 1): benign or pathogenic? Disease(s)? | benign | GTCCAGGAACTTAAACTCTTTAGACTCCTCCAGCCTTCCCAGCACTGTCATTCAAAGACCCCTGCAAGATCAGGATTTTCAAACGTTCCTAAGGCTTGGGTAGGAAATACATTTTACATTTTGGCCCAGTTTGTGCACACACAGTCATACACACACCCATACACACTTAACTGAGATAAATTTTTCACAAAATAATGCTTATCCTCACCATGTGCAATTACTATTTTCTCTTCTATTCTATTTCTTAAAAGTTCTGGTCCCATACAAAATTGATTTCATAAGGGCTTAAAGGGTTGCAACCCACAGCTGAGAAACCCTAT... | GTCCAGGAACTTAAACTCTTTAGACTCCTCCAGCCTTCCCAGCACTGTCATTCAAAGACCCCTGCAAGATCAGGATTTTCAAACGTTCCTAAGGCTTGGGTAGGAAATACATTTTACATTTTGGCCCAGTTTGTGCACACACAGTCATACACACACCCATACACACTTAACTGAGATAAATTTTTCACAAAATAATGCTTATCCTCACCATGTGCAATTACTATTTTCTCTTCTATTCTATTTCTTAAAAGTTCTGGTCCCATACAAAATTGATTTCATAAGGGCTTAAAGGGTTGCAACCCACAGCTGAGAAACCCTAT... | benign | 38,315 |
Regarding the variant found on chromosome 2 at position 69338431 in gene GFPT1 (glutamine--fructose-6-phosphate transaminase 1): is it benign or pathogenic? If pathogenic, identify the disease(s). | benign | TTATATAAGAATCACAAACTTTCTACAAAAAATTCTCTATGAGAATCTTTGAGGGAAAAGAATTCAAATGCAGTTATGTACACATTAACATTGTCTTTCACAATCCTTTAATTAAACTCAAATCCACCAATATCCCAACATCTTATTAGATAATCAGCAAGAAATATCAAACTTAAGTAGAAAAATATTGAGAAAACAAAAATGTGAAATCATAAAAAGTAACACATTGGACAACATAGTGAGACCCCATCTTAAAAAAAAAAAAAAAACTAGCCTGGTGCATCTGCAGTCCCAGCCACTCAGGAAGCTGAGGCAGAGAT... | TTATATAAGAATCACAAACTTTCTACAAAAAATTCTCTATGAGAATCTTTGAGGGAAAAGAATTCAAATGCAGTTATGTACACATTAACATTGTCTTTCACAATCCTTTAATTAAACTCAAATCCACCAATATCCCAACATCTTATTAGATAATCAGCAAGAAATATCAAACTTAAGTAGAAAAATATTGAGAAAACAAAAATGTGAAATCATAAAAAGTAACACATTGGACAACATAGTGAGACCCCATCTTAAAAAAAAAAAAAAAACTAGCCTGGTGCATCTGCAGTCCCAGCCACTCAGGAAGCTGAGGCAGAGAT... | benign | 38,342 |
Does the chromosome 2 mutation at position 69354258 within gene GFPT1 (glutamine--fructose-6-phosphate transaminase 1) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Congenital_myasthenic_syndrome_12'] | GTGAGATTGTGCCATTGCACTCCAGCCTGGGTGACAGAGCATGACTTTGTCTCAAAAACAAAACAAAAAAGTGAATTTAAAAACACATAAAAAGAGAGCTCAGCATTTTAAAAAAATAAATGCAACCAGGTGTGGTGGCTCAGGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCATGAGGTCAGGAGTTTGAGACCAGCCTGAGCAACAGCCTGAAACCCCGTCTCTACTAAAAATAGAAAAATTTGCTGGGTGTGGTGGCACGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAAGACACTCGC... | GTGAGATTGTGCCATTGCACTCCAGCCTGGGTGACAGAGCATGACTTTGTCTCAAAAACAAAACAAAAAAGTGAATTTAAAAACACATAAAAAGAGAGCTCAGCATTTTAAAAAAATAAATGCAACCAGGTGTGGTGGCTCAGGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCATGAGGTCAGGAGTTTGAGACCAGCCTGAGCAACAGCCTGAAACCCCGTCTCTACTAAAAATAGAAAAATTTGCTGGGTGTGGTGGCACGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAAGACACTCGC... | pathogenic | 38,344 |
The mutation in gene GFPT1 (glutamine--fructose-6-phosphate transaminase 1) at chromosome 2, position 69354311—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Congenital_myasthenic_syndrome_12'] | AAAAACAAAACAAAAAAGTGAATTTAAAAACACATAAAAAGAGAGCTCAGCATTTTAAAAAAATAAATGCAACCAGGTGTGGTGGCTCAGGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCATGAGGTCAGGAGTTTGAGACCAGCCTGAGCAACAGCCTGAAACCCCGTCTCTACTAAAAATAGAAAAATTTGCTGGGTGTGGTGGCACGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAAGACACTCGCTTGAACCCGGGAGGCCGAGGTTGCAGTGAGCCGAGATCACGCCACTGCACTAC... | AAAAACAAAACAAAAAAGTGAATTTAAAAACACATAAAAAGAGAGCTCAGCATTTTAAAAAAATAAATGCAACCAGGTGTGGTGGCTCAGGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCATGAGGTCAGGAGTTTGAGACCAGCCTGAGCAACAGCCTGAAACCCCGTCTCTACTAAAAATAGAAAAATTTGCTGGGTGTGGTGGCACGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAAGACACTCGCTTGAACCCGGGAGGCCGAGGTTGCAGTGAGCCGAGATCACGCCACTGCACTAC... | pathogenic | 38,345 |
Variant at chromosome position 70935981, chromosome 2, gene ATP6V1B1 (ATPase H+ transporting V1 subunit B1): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Renal_tubular_acidosis_with_progressive_nerve_deafness'] | GGGCGCCTGTAATCTCAGCCACTCAGGAGGCTGAAGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGCTGCAGTGAGCCAAGATCATGCCTCTGCATTTCAGCCTGACAACAGAGGGAGACTCTGACTCAAAAAAAAAAAAAAATATATATATATATATACACACACACACACACACACACACACATACATATTATATATATTTCATATTGCTCAAACAATATAAATTTTTTTAAAGTTAAATAAGAGTCTTGCTCAAGACTCTTTTATTTAACTTTTTATTTTGCAGTAATTATAGATTTACAGGAAGCTGCAGAGAT... | GGGCGCCTGTAATCTCAGCCACTCAGGAGGCTGAAGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGCTGCAGTGAGCCAAGATCATGCCTCTGCATTTCAGCCTGACAACAGAGGGAGACTCTGACTCAAAAAAAAAAAAAAATATATATATATATATACACACACACACACACACACACACACATACATATTATATATATTTCATATTGCTCAAACAATATAAATTTTTTTAAAGTTAAATAAGAGTCTTGCTCAAGACTCTTTTATTTAACTTTTTATTTTGCAGTAATTATAGATTTACAGGAAGCTGCAGAGAT... | pathogenic | 38,461 |
The mutation in gene ATP6V1B1 (ATPase H+ transporting V1 subunit B1) at chromosome 2, position 70935981—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Renal_tubular_acidosis_with_progressive_nerve_deafness'] | GGGCGCCTGTAATCTCAGCCACTCAGGAGGCTGAAGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGCTGCAGTGAGCCAAGATCATGCCTCTGCATTTCAGCCTGACAACAGAGGGAGACTCTGACTCAAAAAAAAAAAAAAATATATATATATATATACACACACACACACACACACACACACATACATATTATATATATTTCATATTGCTCAAACAATATAAATTTTTTTAAAGTTAAATAAGAGTCTTGCTCAAGACTCTTTTATTTAACTTTTTATTTTGCAGTAATTATAGATTTACAGGAAGCTGCAGAGAT... | GGGCGCCTGTAATCTCAGCCACTCAGGAGGCTGAAGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGCTGCAGTGAGCCAAGATCATGCCTCTGCATTTCAGCCTGACAACAGAGGGAGACTCTGACTCAAAAAAAAAAAAAAATATATATATATATATACACACACACACACACACACACACACATACATATTATATATATTTCATATTGCTCAAACAATATAAATTTTTTTAAAGTTAAATAAGAGTCTTGCTCAAGACTCTTTTATTTAACTTTTTATTTTGCAGTAATTATAGATTTACAGGAAGCTGCAGAGAT... | pathogenic | 38,462 |
A genetic alteration at chromosome 2, position 70943670, in gene ATP6V1B1—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Renal_tubular_acidosis_with_progressive_nerve_deafness'] | GTAGGCACTTCACATTTTCATTTGTCACTTTCATTTGCCTAGCTTAGTACATAGAAGGCATCCATGCAGTAGATATGCTTGAAGAAAGGAAGCAGGGAGGGAAGGAAGAAGGCAGATCTCAGAGGAAAGGAGAGGAAGAAGTGGAGAGCCAGGCCAAACCTCGAAGTCCTCCAGCACCCAAAGGTCTGAGAGCGAGGAGTGTGAGTCTTCAGAGGAGGCTGACAGGCGGCCCCAGAGGGAAGCTTCCAAAGGACAGTGCACCCAGGCTCTGAGTGTAGCCATCGGAGGCCACTGAAGCCAGAGTGGAGAAGGCCAAGGAG... | GTAGGCACTTCACATTTTCATTTGTCACTTTCATTTGCCTAGCTTAGTACATAGAAGGCATCCATGCAGTAGATATGCTTGAAGAAAGGAAGCAGGGAGGGAAGGAAGAAGGCAGATCTCAGAGGAAAGGAGAGGAAGAAGTGGAGAGCCAGGCCAAACCTCGAAGTCCTCCAGCACCCAAAGGTCTGAGAGCGAGGAGTGTGAGTCTTCAGAGGAGGCTGACAGGCGGCCCCAGAGGGAAGCTTCCAAAGGACAGTGCACCCAGGCTCTGAGTGTAGCCATCGGAGGCCACTGAAGCCAGAGTGGAGAAGGCCAAGGAG... | pathogenic | 38,476 |
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