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 |
|---|---|---|---|---|---|
Clinical impact (benign or pathogenic) of the variant at chromosome 9, location 37432027, gene GRHPR (glyoxylate and hydroxypyruvate reductase): what disease(s) if pathogenic? | pathogenic; ['Primary_hyperoxaluria,_type_II'] | CTGCCCCTGGACACTGGCCCACTCAGGGAGCACAGGGACTTACCCAGGTCCTCTCCGAGCCAGCAGAGCAGTCCAGGGCTCCCGTCTTTCAGAGTCCTTTGTTACCATTCCCCATTGTGGGCGGAGCAGCGGGGATGGTGGTGGGTGTGAGGAAGGGCTGGGCACTTTCACTGTCTTTTCCTTCATAAACTGGCAAGCACTACCCTAGCCTTTGTGTGCGCCCCTTAGTCCAGGCGGATCCAGCACCTGGCGGGTCCACAGCCTGGTGAGCAGATGGCAGGCTGGATCTCAAGCATTCCCCACGCCCCTGGGCACTTTGG... | CTGCCCCTGGACACTGGCCCACTCAGGGAGCACAGGGACTTACCCAGGTCCTCTCCGAGCCAGCAGAGCAGTCCAGGGCTCCCGTCTTTCAGAGTCCTTTGTTACCATTCCCCATTGTGGGCGGAGCAGCGGGGATGGTGGTGGGTGTGAGGAAGGGCTGGGCACTTTCACTGTCTTTTCCTTCATAAACTGGCAAGCACTACCCTAGCCTTTGTGTGCGCCCCTTAGTCCAGGCGGATCCAGCACCTGGCGGGTCCACAGCCTGGTGAGCAGATGGCAGGCTGGATCTCAAGCATTCCCCACGCCCCTGGGCACTTTGG... | pathogenic | 144,633 |
Variant in gene GRHPR (glyoxylate and hydroxypyruvate reductase), located at chromosome 9 position 37432054: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Primary_hyperoxaluria,_type_II'] | GAGCACAGGGACTTACCCAGGTCCTCTCCGAGCCAGCAGAGCAGTCCAGGGCTCCCGTCTTTCAGAGTCCTTTGTTACCATTCCCCATTGTGGGCGGAGCAGCGGGGATGGTGGTGGGTGTGAGGAAGGGCTGGGCACTTTCACTGTCTTTTCCTTCATAAACTGGCAAGCACTACCCTAGCCTTTGTGTGCGCCCCTTAGTCCAGGCGGATCCAGCACCTGGCGGGTCCACAGCCTGGTGAGCAGATGGCAGGCTGGATCTCAAGCATTCCCCACGCCCCTGGGCACTTTGGGCCCTGAAGGTAGTTAAAGCCAGAGTG... | GAGCACAGGGACTTACCCAGGTCCTCTCCGAGCCAGCAGAGCAGTCCAGGGCTCCCGTCTTTCAGAGTCCTTTGTTACCATTCCCCATTGTGGGCGGAGCAGCGGGGATGGTGGTGGGTGTGAGGAAGGGCTGGGCACTTTCACTGTCTTTTCCTTCATAAACTGGCAAGCACTACCCTAGCCTTTGTGTGCGCCCCTTAGTCCAGGCGGATCCAGCACCTGGCGGGTCCACAGCCTGGTGAGCAGATGGCAGGCTGGATCTCAAGCATTCCCCACGCCCCTGGGCACTTTGGGCCCTGAAGGTAGTTAAAGCCAGAGTG... | pathogenic | 144,634 |
Is the chromosome 9, position 37432055 variant in GRHPR (glyoxylate and hydroxypyruvate reductase) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Primary_hyperoxaluria,_type_II'] | AGCACAGGGACTTACCCAGGTCCTCTCCGAGCCAGCAGAGCAGTCCAGGGCTCCCGTCTTTCAGAGTCCTTTGTTACCATTCCCCATTGTGGGCGGAGCAGCGGGGATGGTGGTGGGTGTGAGGAAGGGCTGGGCACTTTCACTGTCTTTTCCTTCATAAACTGGCAAGCACTACCCTAGCCTTTGTGTGCGCCCCTTAGTCCAGGCGGATCCAGCACCTGGCGGGTCCACAGCCTGGTGAGCAGATGGCAGGCTGGATCTCAAGCATTCCCCACGCCCCTGGGCACTTTGGGCCCTGAAGGTAGTTAAAGCCAGAGTGG... | AGCACAGGGACTTACCCAGGTCCTCTCCGAGCCAGCAGAGCAGTCCAGGGCTCCCGTCTTTCAGAGTCCTTTGTTACCATTCCCCATTGTGGGCGGAGCAGCGGGGATGGTGGTGGGTGTGAGGAAGGGCTGGGCACTTTCACTGTCTTTTCCTTCATAAACTGGCAAGCACTACCCTAGCCTTTGTGTGCGCCCCTTAGTCCAGGCGGATCCAGCACCTGGCGGGTCCACAGCCTGGTGAGCAGATGGCAGGCTGGATCTCAAGCATTCCCCACGCCCCTGGGCACTTTGGGCCCTGAAGGTAGTTAAAGCCAGAGTGG... | pathogenic | 144,635 |
Regarding the variant found on chromosome 9 at position 37432134 in gene GRHPR (glyoxylate and hydroxypyruvate reductase): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Primary_hyperoxaluria', 'Primary_hyperoxaluria,_type_II'] | TTCCCCATTGTGGGCGGAGCAGCGGGGATGGTGGTGGGTGTGAGGAAGGGCTGGGCACTTTCACTGTCTTTTCCTTCATAAACTGGCAAGCACTACCCTAGCCTTTGTGTGCGCCCCTTAGTCCAGGCGGATCCAGCACCTGGCGGGTCCACAGCCTGGTGAGCAGATGGCAGGCTGGATCTCAAGCATTCCCCACGCCCCTGGGCACTTTGGGCCCTGAAGGTAGTTAAAGCCAGAGTGGTCCAGATCCCACTGTGTGTGATTTGACTTTGTGCACTCATGAGAGTTGTCCAGGTAGAGACTCGGCCTTCAGGAAGCAT... | TTCCCCATTGTGGGCGGAGCAGCGGGGATGGTGGTGGGTGTGAGGAAGGGCTGGGCACTTTCACTGTCTTTTCCTTCATAAACTGGCAAGCACTACCCTAGCCTTTGTGTGCGCCCCTTAGTCCAGGCGGATCCAGCACCTGGCGGGTCCACAGCCTGGTGAGCAGATGGCAGGCTGGATCTCAAGCATTCCCCACGCCCCTGGGCACTTTGGGCCCTGAAGGTAGTTAAAGCCAGAGTGGTCCAGATCCCACTGTGTGTGATTTGACTTTGTGCACTCATGAGAGTTGTCCAGGTAGAGACTCGGCCTTCAGGAAGCAT... | pathogenic | 144,639 |
Regarding the variant at chromosome 9 and position 37432135, affecting gene GRHPR (glyoxylate and hydroxypyruvate reductase): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Primary_hyperoxaluria,_type_II'] | TCCCCATTGTGGGCGGAGCAGCGGGGATGGTGGTGGGTGTGAGGAAGGGCTGGGCACTTTCACTGTCTTTTCCTTCATAAACTGGCAAGCACTACCCTAGCCTTTGTGTGCGCCCCTTAGTCCAGGCGGATCCAGCACCTGGCGGGTCCACAGCCTGGTGAGCAGATGGCAGGCTGGATCTCAAGCATTCCCCACGCCCCTGGGCACTTTGGGCCCTGAAGGTAGTTAAAGCCAGAGTGGTCCAGATCCCACTGTGTGTGATTTGACTTTGTGCACTCATGAGAGTTGTCCAGGTAGAGACTCGGCCTTCAGGAAGCATC... | TCCCCATTGTGGGCGGAGCAGCGGGGATGGTGGTGGGTGTGAGGAAGGGCTGGGCACTTTCACTGTCTTTTCCTTCATAAACTGGCAAGCACTACCCTAGCCTTTGTGTGCGCCCCTTAGTCCAGGCGGATCCAGCACCTGGCGGGTCCACAGCCTGGTGAGCAGATGGCAGGCTGGATCTCAAGCATTCCCCACGCCCCTGGGCACTTTGGGCCCTGAAGGTAGTTAAAGCCAGAGTGGTCCAGATCCCACTGTGTGTGATTTGACTTTGTGCACTCATGAGAGTTGTCCAGGTAGAGACTCGGCCTTCAGGAAGCATC... | pathogenic | 144,640 |
Mutation at chromosome 9, position 37436635, within GRHPR (glyoxylate and hydroxypyruvate reductase): benign or pathogenic? If pathogenic, indicate the disease(s). | benign | TGAAGGCCATAGGACTCCAGTCCTTCCACCCCTTCAGAGTGACACGGACCTTTTGCAAAATGCCATTTAGTCACCCTCCAACAAAGTGTCTTTCCCTCTGTTGTCCTGTAAACTGTAATGTACGAAATAACATATTTTGATGATCGGGGTCTTGGCCTCTTGACATATACGCTAAAAAAATGGGGGTTGTTTTATATGTGTCCTGTGTAAACCTGTCGGCAAATATAGCCACCACTTTTGAATTCTCCTAGATGGCCCTGAATTTTGCCACTTTGAAATAATGTGCTACTCAATCTCAGCAACCAAAAACCATTATCCAG... | TGAAGGCCATAGGACTCCAGTCCTTCCACCCCTTCAGAGTGACACGGACCTTTTGCAAAATGCCATTTAGTCACCCTCCAACAAAGTGTCTTTCCCTCTGTTGTCCTGTAAACTGTAATGTACGAAATAACATATTTTGATGATCGGGGTCTTGGCCTCTTGACATATACGCTAAAAAAATGGGGGTTGTTTTATATGTGTCCTGTGTAAACCTGTCGGCAAATATAGCCACCACTTTTGAATTCTCCTAGATGGCCCTGAATTTTGCCACTTTGAAATAATGTGCTACTCAATCTCAGCAACCAAAAACCATTATCCAG... | benign | 144,644 |
Classify the chromosome 9 variant at position 37780833 affecting gene EXOSC3 (exosome component 3) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Pontocerebellar_hypoplasia_type_1B'] | CCTCCTGTGGCTCTTACCTTGTTCTCCCTTGCAGAGTATGGGCATGGAGGGCTTCTCTTCCTAATCCTTCCTAATGGTAGGATCCTAACAGGACAAATCTGTGTACCTATCTTTCTATCCTCCCTGAGCCTGTACCAACTAGATTCTTCATATGTATTTGTAACAGATTAAATTGGAAAGCAAACACAGTATTGATTAAGTCTGTCTTGAAAATAGCTAGAAAGTGTTAGACACATGAACACGTTAGATAACCTACTTATTACACAAATCTCATGTTCCTTATGTCCCAGTTGGACATATTTGCTTCAGTTACTCTGACA... | CCTCCTGTGGCTCTTACCTTGTTCTCCCTTGCAGAGTATGGGCATGGAGGGCTTCTCTTCCTAATCCTTCCTAATGGTAGGATCCTAACAGGACAAATCTGTGTACCTATCTTTCTATCCTCCCTGAGCCTGTACCAACTAGATTCTTCATATGTATTTGTAACAGATTAAATTGGAAAGCAAACACAGTATTGATTAAGTCTGTCTTGAAAATAGCTAGAAAGTGTTAGACACATGAACACGTTAGATAACCTACTTATTACACAAATCTCATGTTCCTTATGTCCCAGTTGGACATATTTGCTTCAGTTACTCTGACA... | pathogenic | 144,669 |
Is the genetic variant on chromosome 9, position 37781984, gene EXOSC3 (exosome component 3), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Pontocerebellar_hypoplasia_type_1B', 'Pontoneocerebellar_hypoplasia'] | AGCAAAATAAGACTTGGCCAGATTTGGATTCAGAAATCCTCATAGTGTTATTTATATAATGATAAAACTCAAAAATATCCTGTAACATGAAATATGTGACTAAAGTTGTGAAATGTATCATGCTGTTTGAAGTAGACAAAAGTATATTACAAAGTGGCATATAAGCTATAATAACTATAATTTCAATTTGATGAATATAGAGAATGTAGGCCAAGTTAAATTCTGTGCCTCAGTTTCAATTATGAGGATAAGTGTCTTCTGCAGTTAGAATAAAGGAGTTAATCCATGCAAAACACAATACTTGGTAAATGAAAAAGTAT... | AGCAAAATAAGACTTGGCCAGATTTGGATTCAGAAATCCTCATAGTGTTATTTATATAATGATAAAACTCAAAAATATCCTGTAACATGAAATATGTGACTAAAGTTGTGAAATGTATCATGCTGTTTGAAGTAGACAAAAGTATATTACAAAGTGGCATATAAGCTATAATAACTATAATTTCAATTTGATGAATATAGAGAATGTAGGCCAAGTTAAATTCTGTGCCTCAGTTTCAATTATGAGGATAAGTGTCTTCTGCAGTTAGAATAAAGGAGTTAATCCATGCAAAACACAATACTTGGTAAATGAAAAAGTAT... | pathogenic | 144,673 |
Clinical classification of chromosome 9, position 37781989, gene EXOSC3 (exosome component 3): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Pontocerebellar_hypoplasia_type_1B'] | AATAAGACTTGGCCAGATTTGGATTCAGAAATCCTCATAGTGTTATTTATATAATGATAAAACTCAAAAATATCCTGTAACATGAAATATGTGACTAAAGTTGTGAAATGTATCATGCTGTTTGAAGTAGACAAAAGTATATTACAAAGTGGCATATAAGCTATAATAACTATAATTTCAATTTGATGAATATAGAGAATGTAGGCCAAGTTAAATTCTGTGCCTCAGTTTCAATTATGAGGATAAGTGTCTTCTGCAGTTAGAATAAAGGAGTTAATCCATGCAAAACACAATACTTGGTAAATGAAAAAGTATTTCGT... | AATAAGACTTGGCCAGATTTGGATTCAGAAATCCTCATAGTGTTATTTATATAATGATAAAACTCAAAAATATCCTGTAACATGAAATATGTGACTAAAGTTGTGAAATGTATCATGCTGTTTGAAGTAGACAAAAGTATATTACAAAGTGGCATATAAGCTATAATAACTATAATTTCAATTTGATGAATATAGAGAATGTAGGCCAAGTTAAATTCTGTGCCTCAGTTTCAATTATGAGGATAAGTGTCTTCTGCAGTTAGAATAAAGGAGTTAATCCATGCAAAACACAATACTTGGTAAATGAAAAAGTATTTCGT... | pathogenic | 144,674 |
Is the genetic variant on chromosome 9, position 37783956, gene EXOSC3 (exosome component 3), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Pontocerebellar_hypoplasia_type_1B'] | TGAATCCTGAAGATTAACCAACTTTCCAAGAATGTATAATTATAAAAAGCAGTCAAGCCAGCAGACATCAGGACTTACTTTCTAATTAAGCCCAGAGTCACTTTAAAAAGCAGACCATCCTGTCCAATGACACCCATTCCATTGGCTCGTCCACAGCTGTCAATACAGACCATCTCTGGTTCCATGTCTTTATTAGCAACCACAAACTGGCCATAGATGAGATCTCCAACCTACAATGATATTAAAAACCAGTTCATTTCCTCTCAGCAAACTACAGGTGCTACTATTGGTTCTTTCTCACAGGCATCAATGCCAGCCAC... | TGAATCCTGAAGATTAACCAACTTTCCAAGAATGTATAATTATAAAAAGCAGTCAAGCCAGCAGACATCAGGACTTACTTTCTAATTAAGCCCAGAGTCACTTTAAAAAGCAGACCATCCTGTCCAATGACACCCATTCCATTGGCTCGTCCACAGCTGTCAATACAGACCATCTCTGGTTCCATGTCTTTATTAGCAACCACAAACTGGCCATAGATGAGATCTCCAACCTACAATGATATTAAAAACCAGTTCATTTCCTCTCAGCAAACTACAGGTGCTACTATTGGTTCTTTCTCACAGGCATCAATGCCAGCCAC... | pathogenic | 144,680 |
Mutation found at chromosome 9 position 37784731, gene EXOSC3 (exosome component 3): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Pontocerebellar_hypoplasia_type_1B', 'Pontoneocerebellar_hypoplasia'] | AACCTCATAGAGCTAAACTTCAAAGGGACGAAACTGAGGAAATGGAGAGTGAACTCATTCTGTTCACTCAACAAAACGTATTAAGTACCTACTGTTTGTTGGTGACTATGTAAACTAGAAAGGAACAAAACATTCTCTGCTTTTCAGAAGCATTTGGTCTTGGAGGGCAGTGGGGAGGTACATATAAACAAACCTCAGTCAAGGCTCAATCCAGTAAGTGCTAGAGCAAAGATACGAGAAAAGTGGCAACTAGAGATGGCTTTACAGAGGTGGTCATGTTTAGCCTACGTCTCAAAGAATGAGAATGTGTTCCATAGGGT... | AACCTCATAGAGCTAAACTTCAAAGGGACGAAACTGAGGAAATGGAGAGTGAACTCATTCTGTTCACTCAACAAAACGTATTAAGTACCTACTGTTTGTTGGTGACTATGTAAACTAGAAAGGAACAAAACATTCTCTGCTTTTCAGAAGCATTTGGTCTTGGAGGGCAGTGGGGAGGTACATATAAACAAACCTCAGTCAAGGCTCAATCCAGTAAGTGCTAGAGCAAAGATACGAGAAAAGTGGCAACTAGAGATGGCTTTACAGAGGTGGTCATGTTTAGCCTACGTCTCAAAGAATGAGAATGTGTTCCATAGGGT... | pathogenic | 144,683 |
Evaluate this variant at chromosome 9, position 37784741, gene EXOSC3: benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Pontocerebellar_hypoplasia_type_1B'] | AGCTAAACTTCAAAGGGACGAAACTGAGGAAATGGAGAGTGAACTCATTCTGTTCACTCAACAAAACGTATTAAGTACCTACTGTTTGTTGGTGACTATGTAAACTAGAAAGGAACAAAACATTCTCTGCTTTTCAGAAGCATTTGGTCTTGGAGGGCAGTGGGGAGGTACATATAAACAAACCTCAGTCAAGGCTCAATCCAGTAAGTGCTAGAGCAAAGATACGAGAAAAGTGGCAACTAGAGATGGCTTTACAGAGGTGGTCATGTTTAGCCTACGTCTCAAAGAATGAGAATGTGTTCCATAGGGTGCGAAGGGAT... | AGCTAAACTTCAAAGGGACGAAACTGAGGAAATGGAGAGTGAACTCATTCTGTTCACTCAACAAAACGTATTAAGTACCTACTGTTTGTTGGTGACTATGTAAACTAGAAAGGAACAAAACATTCTCTGCTTTTCAGAAGCATTTGGTCTTGGAGGGCAGTGGGGAGGTACATATAAACAAACCTCAGTCAAGGCTCAATCCAGTAAGTGCTAGAGCAAAGATACGAGAAAAGTGGCAACTAGAGATGGCTTTACAGAGGTGGTCATGTTTAGCCTACGTCTCAAAGAATGAGAATGTGTTCCATAGGGTGCGAAGGGAT... | pathogenic | 144,684 |
Clinical classification of chromosome 9, position 37784747, gene EXOSC3: benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Pontocerebellar_hypoplasia_type_1B'] | ACTTCAAAGGGACGAAACTGAGGAAATGGAGAGTGAACTCATTCTGTTCACTCAACAAAACGTATTAAGTACCTACTGTTTGTTGGTGACTATGTAAACTAGAAAGGAACAAAACATTCTCTGCTTTTCAGAAGCATTTGGTCTTGGAGGGCAGTGGGGAGGTACATATAAACAAACCTCAGTCAAGGCTCAATCCAGTAAGTGCTAGAGCAAAGATACGAGAAAAGTGGCAACTAGAGATGGCTTTACAGAGGTGGTCATGTTTAGCCTACGTCTCAAAGAATGAGAATGTGTTCCATAGGGTGCGAAGGGATAGTGCA... | ACTTCAAAGGGACGAAACTGAGGAAATGGAGAGTGAACTCATTCTGTTCACTCAACAAAACGTATTAAGTACCTACTGTTTGTTGGTGACTATGTAAACTAGAAAGGAACAAAACATTCTCTGCTTTTCAGAAGCATTTGGTCTTGGAGGGCAGTGGGGAGGTACATATAAACAAACCTCAGTCAAGGCTCAATCCAGTAAGTGCTAGAGCAAAGATACGAGAAAAGTGGCAACTAGAGATGGCTTTACAGAGGTGGTCATGTTTAGCCTACGTCTCAAAGAATGAGAATGTGTTCCATAGGGTGCGAAGGGATAGTGCA... | pathogenic | 144,685 |
Variant in EXOSC3 (exosome component 3), chromosome 9, position 37784818—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Pontocerebellar_hypoplasia_type_1B'] | CCTACTGTTTGTTGGTGACTATGTAAACTAGAAAGGAACAAAACATTCTCTGCTTTTCAGAAGCATTTGGTCTTGGAGGGCAGTGGGGAGGTACATATAAACAAACCTCAGTCAAGGCTCAATCCAGTAAGTGCTAGAGCAAAGATACGAGAAAAGTGGCAACTAGAGATGGCTTTACAGAGGTGGTCATGTTTAGCCTACGTCTCAAAGAATGAGAATGTGTTCCATAGGGTGCGAAGGGATAGTGCAATCAAGACAGTGGGAACAGCATGTGCAAATAAGGGCAGGAAATTGAGTTTAATGGCGTTTGGTGTGATTTG... | CCTACTGTTTGTTGGTGACTATGTAAACTAGAAAGGAACAAAACATTCTCTGCTTTTCAGAAGCATTTGGTCTTGGAGGGCAGTGGGGAGGTACATATAAACAAACCTCAGTCAAGGCTCAATCCAGTAAGTGCTAGAGCAAAGATACGAGAAAAGTGGCAACTAGAGATGGCTTTACAGAGGTGGTCATGTTTAGCCTACGTCTCAAAGAATGAGAATGTGTTCCATAGGGTGCGAAGGGATAGTGCAATCAAGACAGTGGGAACAGCATGTGCAAATAAGGGCAGGAAATTGAGTTTAATGGCGTTTGGTGTGATTTG... | pathogenic | 144,688 |
For chromosome 9, position 37784870, gene EXOSC3 (exosome component 3): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Pontocerebellar_hypoplasia_type_1B'] | CTTTTCAGAAGCATTTGGTCTTGGAGGGCAGTGGGGAGGTACATATAAACAAACCTCAGTCAAGGCTCAATCCAGTAAGTGCTAGAGCAAAGATACGAGAAAAGTGGCAACTAGAGATGGCTTTACAGAGGTGGTCATGTTTAGCCTACGTCTCAAAGAATGAGAATGTGTTCCATAGGGTGCGAAGGGATAGTGCAATCAAGACAGTGGGAACAGCATGTGCAAATAAGGGCAGGAAATTGAGTTTAATGGCGTTTGGTGTGATTTGAGTATGGCTGTATGAAGGATATAATTAGGGATGAGGAAAGACACCTGGAGTG... | CTTTTCAGAAGCATTTGGTCTTGGAGGGCAGTGGGGAGGTACATATAAACAAACCTCAGTCAAGGCTCAATCCAGTAAGTGCTAGAGCAAAGATACGAGAAAAGTGGCAACTAGAGATGGCTTTACAGAGGTGGTCATGTTTAGCCTACGTCTCAAAGAATGAGAATGTGTTCCATAGGGTGCGAAGGGATAGTGCAATCAAGACAGTGGGAACAGCATGTGCAAATAAGGGCAGGAAATTGAGTTTAATGGCGTTTGGTGTGATTTGAGTATGGCTGTATGAAGGATATAATTAGGGATGAGGAAAGACACCTGGAGTG... | pathogenic | 144,690 |
Chromosome 9, position 37784889, gene EXOSC3 (exosome component 3): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Pontocerebellar_hypoplasia_type_1B', 'Pontoneocerebellar_hypoplasia'] | CTTGGAGGGCAGTGGGGAGGTACATATAAACAAACCTCAGTCAAGGCTCAATCCAGTAAGTGCTAGAGCAAAGATACGAGAAAAGTGGCAACTAGAGATGGCTTTACAGAGGTGGTCATGTTTAGCCTACGTCTCAAAGAATGAGAATGTGTTCCATAGGGTGCGAAGGGATAGTGCAATCAAGACAGTGGGAACAGCATGTGCAAATAAGGGCAGGAAATTGAGTTTAATGGCGTTTGGTGTGATTTGAGTATGGCTGTATGAAGGATATAATTAGGGATGAGGAAAGACACCTGGAGTGTAATGCCAAGGAATTCTGT... | CTTGGAGGGCAGTGGGGAGGTACATATAAACAAACCTCAGTCAAGGCTCAATCCAGTAAGTGCTAGAGCAAAGATACGAGAAAAGTGGCAACTAGAGATGGCTTTACAGAGGTGGTCATGTTTAGCCTACGTCTCAAAGAATGAGAATGTGTTCCATAGGGTGCGAAGGGATAGTGCAATCAAGACAGTGGGAACAGCATGTGCAAATAAGGGCAGGAAATTGAGTTTAATGGCGTTTGGTGTGATTTGAGTATGGCTGTATGAAGGATATAATTAGGGATGAGGAAAGACACCTGGAGTGTAATGCCAAGGAATTCTGT... | pathogenic | 144,691 |
Is chromosome 9, position 37784932, gene EXOSC3 (exosome component 3) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Pontocerebellar_hypoplasia_type_1B'] | AGGCTCAATCCAGTAAGTGCTAGAGCAAAGATACGAGAAAAGTGGCAACTAGAGATGGCTTTACAGAGGTGGTCATGTTTAGCCTACGTCTCAAAGAATGAGAATGTGTTCCATAGGGTGCGAAGGGATAGTGCAATCAAGACAGTGGGAACAGCATGTGCAAATAAGGGCAGGAAATTGAGTTTAATGGCGTTTGGTGTGATTTGAGTATGGCTGTATGAAGGATATAATTAGGGATGAGGAAAGACACCTGGAGTGTAATGCCAAGGAATTCTGTAGATTTTGGAGAATCTTGTCTTTTCGAGAAAGTGACCGTGTGA... | AGGCTCAATCCAGTAAGTGCTAGAGCAAAGATACGAGAAAAGTGGCAACTAGAGATGGCTTTACAGAGGTGGTCATGTTTAGCCTACGTCTCAAAGAATGAGAATGTGTTCCATAGGGTGCGAAGGGATAGTGCAATCAAGACAGTGGGAACAGCATGTGCAAATAAGGGCAGGAAATTGAGTTTAATGGCGTTTGGTGTGATTTGAGTATGGCTGTATGAAGGATATAATTAGGGATGAGGAAAGACACCTGGAGTGTAATGCCAAGGAATTCTGTAGATTTTGGAGAATCTTGTCTTTTCGAGAAAGTGACCGTGTGA... | pathogenic | 144,694 |
The mutation in gene FXN at chromosome 9, position 69035789—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Friedreich_ataxia_1', 'Inborn_genetic_diseases'] | CACTACCCTTTGATGCCTATGGGCTCTCCCTTTATGGTTTCAAGGAGGGCTTCTCAATCTTGGCAGAATTTTGGACTGGATAGTTCTTTGTTGCACAGGTGGGGGGCTGTCCTGCACATCACAGGATGTTTCATCCCTGGCCTCTACCTACTAGATGCCAGTAGAACATACCCACCCCACAGCTGCCTGTTGTGACAATCAAAAGCATCTCCAGATACTTTGCAGGGGGAAAATGATTTCTCCAGGCCTGGCATATACATAACAGTATTTAAGCAGCTGCCTAGAATTAATTAAACACAGAAGGATGTCTCTCATCCAGA... | CACTACCCTTTGATGCCTATGGGCTCTCCCTTTATGGTTTCAAGGAGGGCTTCTCAATCTTGGCAGAATTTTGGACTGGATAGTTCTTTGTTGCACAGGTGGGGGGCTGTCCTGCACATCACAGGATGTTTCATCCCTGGCCTCTACCTACTAGATGCCAGTAGAACATACCCACCCCACAGCTGCCTGTTGTGACAATCAAAAGCATCTCCAGATACTTTGCAGGGGGAAAATGATTTCTCCAGGCCTGGCATATACATAACAGTATTTAAGCAGCTGCCTAGAATTAATTAAACACAGAAGGATGTCTCTCATCCAGA... | pathogenic | 144,740 |
Regarding the variant found on chromosome 9 at position 69216474 in gene TJP2 (tight junction protein 2): is it benign or pathogenic? If pathogenic, identify the disease(s). | benign | TATTATCTATGCTCACCATTGTGCATTGCTAGACTGATCATGGATGTAATAAATCTTATTTCCGATCTTCCATGCATGAAGAAAAGGGTTTAGTGCTTTGCTTTTCATGAGATCTCAACACATATTTTACGTTCAAATTTTATCTTTAAAATCCAGTTACGGGCCGGGCGCAGTAGCTCACGCCTGTAATCCCCACACTTTGGGAGGCAGAGACAGGTGGATCACAAGGTCAGGAGATCGAGACCATCCTGGCCAACATGGTGAAACCCTCCCTGTCTCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCACAT... | TATTATCTATGCTCACCATTGTGCATTGCTAGACTGATCATGGATGTAATAAATCTTATTTCCGATCTTCCATGCATGAAGAAAAGGGTTTAGTGCTTTGCTTTTCATGAGATCTCAACACATATTTTACGTTCAAATTTTATCTTTAAAATCCAGTTACGGGCCGGGCGCAGTAGCTCACGCCTGTAATCCCCACACTTTGGGAGGCAGAGACAGGTGGATCACAAGGTCAGGAGATCGAGACCATCCTGGCCAACATGGTGAAACCCTCCCTGTCTCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCACAT... | benign | 144,770 |
Regarding the variant at chromosome 9 and position 69221325, affecting gene TJP2 (tight junction protein 2): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Cholestasis,_progressive_familial_intrahepatic,_4', 'TJP2-related_disorder'] | GGTATTTAATGTTTTTCAACTTTATATTATGAAGATTTTCAAAGAAAAAGGAAAGTTGAAAGATCAGTGTAATAAACATTTATCTTCTAAAATATTACTATTCTGCCATCTTTACTTGGTCTCTGTATGTATATAAACACTCATGTCTTTCTGGGCAACCATGCGAAGGAAAGTTACAGACATGACAGTTCATTTCTACTTACTTCACATGCATTTCCTATGAATGAGGACATTCATCTATATAATACTATTATCCGATCTAAGAAAAGTAATAATTTTACAGTATTATCTAAAATCCAGTCCATATCTCAAGATGTCTT... | GGTATTTAATGTTTTTCAACTTTATATTATGAAGATTTTCAAAGAAAAAGGAAAGTTGAAAGATCAGTGTAATAAACATTTATCTTCTAAAATATTACTATTCTGCCATCTTTACTTGGTCTCTGTATGTATATAAACACTCATGTCTTTCTGGGCAACCATGCGAAGGAAAGTTACAGACATGACAGTTCATTTCTACTTACTTCACATGCATTTCCTATGAATGAGGACATTCATCTATATAATACTATTATCCGATCTAAGAAAAGTAATAATTTTACAGTATTATCTAAAATCCAGTCCATATCTCAAGATGTCTT... | pathogenic | 144,782 |
Determine whether the variant at chromosome 9, position 69234398, in gene TJP2 (tight junction protein 2) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | benign | GCTGATACAGGATCCTCTTCAGGCTCACAGCAGACACGGCTAGACCCTGTAGACTACTAAATAGCTAATCAAAGAGGATATTTATTGGAAAGGACTGTTCAATGTAACCTTCAAGTAGAAAAGTGCTGCCCTAGCCTTTTTTCACTTTAATTTGTTTCAATGCTCCTTTTCATGGCCAAATTGAATATATAAAGTGAGCCTTATACACATGCTAATCACTTTATTCTGTTGTGGGGTTTTTAAGTGTGGCTCTTTGTTTTGCAAAGGTGACAGCCTAATGTGTGGAATGAAGACGTGAGCCAGATATGTATATTCCTTAT... | GCTGATACAGGATCCTCTTCAGGCTCACAGCAGACACGGCTAGACCCTGTAGACTACTAAATAGCTAATCAAAGAGGATATTTATTGGAAAGGACTGTTCAATGTAACCTTCAAGTAGAAAAGTGCTGCCCTAGCCTTTTTTCACTTTAATTTGTTTCAATGCTCCTTTTCATGGCCAAATTGAATATATAAAGTGAGCCTTATACACATGCTAATCACTTTATTCTGTTGTGGGGTTTTTAAGTGTGGCTCTTTGTTTTGCAAAGGTGACAGCCTAATGTGTGGAATGAAGACGTGAGCCAGATATGTATATTCCTTAT... | benign | 144,800 |
Evaluate this variant at chromosome 9, position 69238759, gene TJP2 (tight junction protein 2): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Cholestasis,_progressive_familial_intrahepatic,_4'] | GGCCAAATTTCACATGTTTATTGCTGAGCCACTTCTGGGAGATTTCACAGAGACCCAGCCTTTTTCTGCTCCCATTTGGAAGTGAAGGTCCCCACATTTCCCACCCTCTGAAACTTCTTCATTGTCAAGCGGAATCTTCTCTGAGCTCAGAAGTAAAATTGACTGGATTTGATTAATGAAATGCATGTTAGCTGCGTTTTCTGGCTTTAGAGATTTACTTCCCGTGGTTTCTTCTCAGAGCTGAACAAATGGCCAGTGTTCAAAATGCCCAGAGAGACAACGCTGGGGACCGGGCAGATTTCTGGAGAATGCGTGGCCAG... | GGCCAAATTTCACATGTTTATTGCTGAGCCACTTCTGGGAGATTTCACAGAGACCCAGCCTTTTTCTGCTCCCATTTGGAAGTGAAGGTCCCCACATTTCCCACCCTCTGAAACTTCTTCATTGTCAAGCGGAATCTTCTCTGAGCTCAGAAGTAAAATTGACTGGATTTGATTAATGAAATGCATGTTAGCTGCGTTTTCTGGCTTTAGAGATTTACTTCCCGTGGTTTCTTCTCAGAGCTGAACAAATGGCCAGTGTTCAAAATGCCCAGAGAGACAACGCTGGGGACCGGGCAGATTTCTGGAGAATGCGTGGCCAG... | pathogenic | 144,820 |
Chromosome 9, position 72694627, gene TMC1 (transmembrane channel like 1): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Autosomal_dominant_nonsyndromic_hearing_loss_36', 'Autosomal_recessive_nonsyndromic_hearing_loss_7'] | AAATTCAGAGTACCAAGTAGCTGCTTGGGTTTGTGAGTTATTAGTGGGTAAATTGTTTCTTGCCTCCTGTCAAGTTTTTGTCCTTTCTTTAATTAGTGACTAATGTGGCTAATAAAAGCAGGGTAAATATTCAGAATGCCATGATGGGGTTCAAATAACATACATTTGCCACAATATTAAACAAACAGAAACTCGTTCTTGATTTGGATGACAGAATATATATACAGTTTTCCAAGCCCAGTTAGAAAAGTTATTATGGGCCGGGTGCGATACCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGTGAATC... | AAATTCAGAGTACCAAGTAGCTGCTTGGGTTTGTGAGTTATTAGTGGGTAAATTGTTTCTTGCCTCCTGTCAAGTTTTTGTCCTTTCTTTAATTAGTGACTAATGTGGCTAATAAAAGCAGGGTAAATATTCAGAATGCCATGATGGGGTTCAAATAACATACATTTGCCACAATATTAAACAAACAGAAACTCGTTCTTGATTTGGATGACAGAATATATATACAGTTTTCCAAGCCCAGTTAGAAAAGTTATTATGGGCCGGGTGCGATACCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGTGAATC... | pathogenic | 144,892 |
Regarding the variant found on chromosome 9 at position 72700517 in gene TMC1 (transmembrane channel like 1): is it benign or pathogenic? If pathogenic, identify the disease(s). | benign | ATAAATTATTTTTCTGAGTAATACTGAATTGGATTACAATTTTTGTTATTGGTCAATATCTAGTGAGGGGAGAAACTTCAACAGTTAATTGAACAGAGAGAATTTAATAAGTGAATTGTTAGGAGGTATAAATGTTAATTAGACTGCAGAAAAGGTAAAAAGAGAACACTAAAGTATCATAGTGACGGTAACTACTGGAAGCAGCTACCATCCCAAGGGCTGGAGGAACAATGGAAAGGGTTGAAACGAAAACACTGTAGCGTAGAGGAAAGACCCTAGGAGCTAAAACTCAGGCCTCTGCAGAGGGGCTGATGCTCTGT... | ATAAATTATTTTTCTGAGTAATACTGAATTGGATTACAATTTTTGTTATTGGTCAATATCTAGTGAGGGGAGAAACTTCAACAGTTAATTGAACAGAGAGAATTTAATAAGTGAATTGTTAGGAGGTATAAATGTTAATTAGACTGCAGAAAAGGTAAAAAGAGAACACTAAAGTATCATAGTGACGGTAACTACTGGAAGCAGCTACCATCCCAAGGGCTGGAGGAACAATGGAAAGGGTTGAAACGAAAACACTGTAGCGTAGAGGAAAGACCCTAGGAGCTAAAACTCAGGCCTCTGCAGAGGGGCTGATGCTCTGT... | benign | 144,894 |
Assess the variant on chromosome 9, position 72791895, impacting TMC1 (transmembrane channel like 1): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Autosomal_dominant_nonsyndromic_hearing_loss_36', 'Autosomal_recessive_nonsyndromic_hearing_loss_7', 'Rare_genetic_deafness'] | CTCTGTTTTCATTAGAAGCCTAACTGCAGCATCTCCATCTCCATTTCCTCCTGTCCTGTACCTTACTTTCTCTCCCTCTAAATGCTATTCAAATGAAGAAGGCCAGCTCTTTTCCAGGAATTAAACATTATGACCGTAATTTGCCTTTAGAGTATCTGCCCATTTAGTGAATCAGAGAAAGGAGGTTAGACATAGATCATTTAGAATCAGAAAATCATTGGTCATGAGTTGTTGCTAGAGTCTGTTCCCGTTCATAAAATGCTTATGTGTATGATGTGACGTCATTTTGAGCTTGGGCATTTTCAAAGTATGTGCAGATT... | CTCTGTTTTCATTAGAAGCCTAACTGCAGCATCTCCATCTCCATTTCCTCCTGTCCTGTACCTTACTTTCTCTCCCTCTAAATGCTATTCAAATGAAGAAGGCCAGCTCTTTTCCAGGAATTAAACATTATGACCGTAATTTGCCTTTAGAGTATCTGCCCATTTAGTGAATCAGAGAAAGGAGGTTAGACATAGATCATTTAGAATCAGAAAATCATTGGTCATGAGTTGTTGCTAGAGTCTGTTCCCGTTCATAAAATGCTTATGTGTATGATGTGACGTCATTTTGAGCTTGGGCATTTTCAAAGTATGTGCAGATT... | pathogenic | 144,925 |
Variant in gene TMC1 (transmembrane channel like 1), located at chromosome 9 position 72792056: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Nonsyndromic_genetic_hearing_loss'] | ATTTAGTGAATCAGAGAAAGGAGGTTAGACATAGATCATTTAGAATCAGAAAATCATTGGTCATGAGTTGTTGCTAGAGTCTGTTCCCGTTCATAAAATGCTTATGTGTATGATGTGACGTCATTTTGAGCTTGGGCATTTTCAAAGTATGTGCAGATTTAGGCTGTGGGAAGTGTAGACTTCCCACACTGAAACTTTTGCAGAACAGTATAGATCAAAAGAATTAAAATATGTCTTTATAAGCATAGAATTTTCTAAAAAATCTTGGACAGCAAATGATATAATCTACTTACAGAAAAAGGTTCCAAATAACATTCTGA... | ATTTAGTGAATCAGAGAAAGGAGGTTAGACATAGATCATTTAGAATCAGAAAATCATTGGTCATGAGTTGTTGCTAGAGTCTGTTCCCGTTCATAAAATGCTTATGTGTATGATGTGACGTCATTTTGAGCTTGGGCATTTTCAAAGTATGTGCAGATTTAGGCTGTGGGAAGTGTAGACTTCCCACACTGAAACTTTTGCAGAACAGTATAGATCAAAAGAATTAAAATATGTCTTTATAAGCATAGAATTTTCTAAAAAATCTTGGACAGCAAATGATATAATCTACTTACAGAAAAAGGTTCCAAATAACATTCTGA... | pathogenic | 144,927 |
Variant chromosome 9, position 72816128, gene TMC1 (transmembrane channel like 1): benign or pathogenic? Disease(s)? | benign | GTGAAGAAAACAGGCATTTAAAACGTTGAGTTTTCTCCACGTTCAGTAGTTTGGTGGGCCACCTCATGATACCATTCTAAGGAGGCGAAGGCTTAAGATTTGATTTTTAAACAGAGACAGAGAAAGGCTGTTCCAAGGCAACAGATGGGTACGGGCCAACCGAGTAAGCATTTTTCAGATGTGTTCTGTGATCACACAGGGCTCCAGGGGAAAAGTGCTGAAGATCATCCAGAGCAGGGCACTCCCCCAGAAGGAAAAAGACTCAGAGTTAATGTTCTCCAGATAAGAAGCAGTTCATTTTTCTCCATGAAGGACACATT... | GTGAAGAAAACAGGCATTTAAAACGTTGAGTTTTCTCCACGTTCAGTAGTTTGGTGGGCCACCTCATGATACCATTCTAAGGAGGCGAAGGCTTAAGATTTGATTTTTAAACAGAGACAGAGAAAGGCTGTTCCAAGGCAACAGATGGGTACGGGCCAACCGAGTAAGCATTTTTCAGATGTGTTCTGTGATCACACAGGGCTCCAGGGGAAAAGTGCTGAAGATCATCCAGAGCAGGGCACTCCCCCAGAAGGAAAAAGACTCAGAGTTAATGTTCTCCAGATAAGAAGCAGTTCATTTTTCTCCATGAAGGACACATT... | benign | 144,942 |
Regarding the variant found on chromosome 9 at position 72830449 in gene TMC1 (transmembrane channel like 1): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic | TGAATGAGGTGTTGTTTAAAACACACACACACACACACACACAATGTAAATGTCAGATTTCGTTACCATATTCTTACTTGATTAGGAGACATGTTTATTTTTAAGTGAAGGAGTGGCATTGTTCAAATGCCTTAATCCAAAGATTTAGTAATCAGTCCTAAGAGGGTTTAAAAGGAATTCACACTGCCTTTGTTTCAGGTACTATTTACACACTGACTCATTTAATTCCCATAACAGCTTTGAGAAGCTGGCTTCATTAATCATACTATCAATAACACATTGAAATTCTGCCCCAAGTCAAGTGACTAAGTGGAACTGAA... | TGAATGAGGTGTTGTTTAAAACACACACACACACACACACACAATGTAAATGTCAGATTTCGTTACCATATTCTTACTTGATTAGGAGACATGTTTATTTTTAAGTGAAGGAGTGGCATTGTTCAAATGCCTTAATCCAAAGATTTAGTAATCAGTCCTAAGAGGGTTTAAAAGGAATTCACACTGCCTTTGTTTCAGGTACTATTTACACACTGACTCATTTAATTCCCATAACAGCTTTGAGAAGCTGGCTTCATTAATCATACTATCAATAACACATTGAAATTCTGCCCCAAGTCAAGTGACTAAGTGGAACTGAA... | pathogenic | 144,958 |
The genetic variant at chromosome 9, position 72830684, affecting gene TMC1 (transmembrane channel like 1): benign or pathogenic? Disease name(s) if pathogenic? | benign | AGCTTTGAGAAGCTGGCTTCATTAATCATACTATCAATAACACATTGAAATTCTGCCCCAAGTCAAGTGACTAAGTGGAACTGAAACTCATGTCTTCTCCTTATTTCCTACACTCACTTGCAGCACCAAACAGGGATCAGAATCAGTGGGAATTTCAGATGGGCTGAAAGCCACTTGTCCGAGGTGGTATAGACCCAGGGTCAGCACACTTTTCCTAATTCGAGGGCCAGAGGCAAATTAGGCCAAGAGGCAAAATTGAGGCTCTTAATTAAGTAATTACTAATAATAACCGTTTAAAAGACAGAAAAACCATTCTTAAT... | AGCTTTGAGAAGCTGGCTTCATTAATCATACTATCAATAACACATTGAAATTCTGCCCCAAGTCAAGTGACTAAGTGGAACTGAAACTCATGTCTTCTCCTTATTTCCTACACTCACTTGCAGCACCAAACAGGGATCAGAATCAGTGGGAATTTCAGATGGGCTGAAAGCCACTTGTCCGAGGTGGTATAGACCCAGGGTCAGCACACTTTTCCTAATTCGAGGGCCAGAGGCAAATTAGGCCAAGAGGCAAAATTGAGGCTCTTAATTAAGTAATTACTAATAATAACCGTTTAAAAGACAGAAAAACCATTCTTAAT... | benign | 144,961 |
A genetic variant on chromosome 9, position 77205421, affects the gene VPS13A (vacuolar protein sorting 13 homolog A). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | benign | ATGCCTTCCTGGCTCAAGTAACCCTCCCACCTCAGTCCCCGAGTAGCTGGGACTACAGGTGTACGCCGCCATGCCTGGCTAATTTTTGTAGTTTTTGTAGAGACAGGGTTTTGCCATGTTGCCCAGGCTTGTCTTGAACTCCTGGACTCAAGGGATCCTCCTACCACAGCCACCCAAAATGCTGGGGTTACAGATGTGAGCCACTGCGCCTGGTCAAGTTTGGATTTTTTAAAAAAACATTTGTGGTGAAAATGGCACACTGTTAATATGTGTTTATTATTTTTACAGTTTTGTAATTGCTCTTTGTCCTTTTGTTCATT... | ATGCCTTCCTGGCTCAAGTAACCCTCCCACCTCAGTCCCCGAGTAGCTGGGACTACAGGTGTACGCCGCCATGCCTGGCTAATTTTTGTAGTTTTTGTAGAGACAGGGTTTTGCCATGTTGCCCAGGCTTGTCTTGAACTCCTGGACTCAAGGGATCCTCCTACCACAGCCACCCAAAATGCTGGGGTTACAGATGTGAGCCACTGCGCCTGGTCAAGTTTGGATTTTTTAAAAAAACATTTGTGGTGAAAATGGCACACTGTTAATATGTGTTTATTATTTTTACAGTTTTGTAATTGCTCTTTGTCCTTTTGTTCATT... | benign | 145,117 |
A genetic variant on chromosome 9, position 77206083, affects the gene VPS13A (vacuolar protein sorting 13 homolog A). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | benign | TAAAAAAGAAATCAGATAGTTCATTTTTCTCTGAAGTGATATTATATGATGAAATCTTTTTCTCAGTTTGAAGTTTTCTACACATGGAGTTTATAAAATATCATGAGATGGATCTAAGTGGATTTAAAAAAATTTCCCAATCACTAACCAGTTTTAGCAACATAGTATATTTAATAATCTATTCCTTACACAATTATGGCAGCTGTATAAATCTAGACACTCATACCATTTAAACAATTCTAAAATATTTTAAAACTCTCTATTACGAAAATATTCTCAAGATACAAAACTAGAGTGAGTAGTATAAGAAACCCCATACA... | TAAAAAAGAAATCAGATAGTTCATTTTTCTCTGAAGTGATATTATATGATGAAATCTTTTTCTCAGTTTGAAGTTTTCTACACATGGAGTTTATAAAATATCATGAGATGGATCTAAGTGGATTTAAAAAAATTTCCCAATCACTAACCAGTTTTAGCAACATAGTATATTTAATAATCTATTCCTTACACAATTATGGCAGCTGTATAAATCTAGACACTCATACCATTTAAACAATTCTAAAATATTTTAAAACTCTCTATTACGAAAATATTCTCAAGATACAAAACTAGAGTGAGTAGTATAAGAAACCCCATACA... | benign | 145,119 |
Classify the chromosome 9 variant at position 77212951 affecting gene VPS13A (vacuolar protein sorting 13 homolog A) as benign or pathogenic. If pathogenic, which disease(s) is associated? | benign | AGATGCTTTTGCTTACTTTAAGAAATCCATTTCCAAGTTTGTAATGAGTAAGTACCAAATACAAGTAATAAATGTTCATATCTGAAACTTCGATAAGCCTTGAAAAACAAAAATCTTCAGTTTTTCTCAATATCATTATTAATATTGTAGCATAGTGTTTTCCTGTTTAATTTTTGAAATTGAGGAATTTTAAAAATATAAGAACATGTAGAGAATTTTGAAACATATGCTTGCCTCCAGAATGGATGGCTGTTAAATTAAGAGCCTATTAAAATAGCCTATTTGCTTAAAGTCTTAAATATTTTTATAGGAATAAGCTG... | AGATGCTTTTGCTTACTTTAAGAAATCCATTTCCAAGTTTGTAATGAGTAAGTACCAAATACAAGTAATAAATGTTCATATCTGAAACTTCGATAAGCCTTGAAAAACAAAAATCTTCAGTTTTTCTCAATATCATTATTAATATTGTAGCATAGTGTTTTCCTGTTTAATTTTTGAAATTGAGGAATTTTAAAAATATAAGAACATGTAGAGAATTTTGAAACATATGCTTGCCTCCAGAATGGATGGCTGTTAAATTAAGAGCCTATTAAAATAGCCTATTTGCTTAAAGTCTTAAATATTTTTATAGGAATAAGCTG... | benign | 145,125 |
For chromosome 9, position 77221316, gene VPS13A (vacuolar protein sorting 13 homolog A): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Chorea-acanthocytosis'] | ATTAAATGTTAGTCCATATCAATGATTAAAATAAAAGGAATATATCATCTTTATATACAGATTAGCTTATAATTTAATGATGGATCTTTGTCTAGATTCTGCTATTACTGGTCTTCCTCTGAATTGTTCTTATTCTTTTTGGCACCAAACACAAAGAGTTGAGAGGAATTTATCTTAGATTATGGGTTCAGCCAAGCAGGTAATCCAGAGCAAACTTTCACTCTTCATCTCTCTCCTTTTACCAATTAAAAGGAAGAACACAGATGGATCTAGAGAAATTGATCAGAAATTCAGAAATTATAATTATATAATGGAAACCA... | ATTAAATGTTAGTCCATATCAATGATTAAAATAAAAGGAATATATCATCTTTATATACAGATTAGCTTATAATTTAATGATGGATCTTTGTCTAGATTCTGCTATTACTGGTCTTCCTCTGAATTGTTCTTATTCTTTTTGGCACCAAACACAAAGAGTTGAGAGGAATTTATCTTAGATTATGGGTTCAGCCAAGCAGGTAATCCAGAGCAAACTTTCACTCTTCATCTCTCTCCTTTTACCAATTAAAAGGAAGAACACAGATGGATCTAGAGAAATTGATCAGAAATTCAGAAATTATAATTATATAATGGAAACCA... | pathogenic | 145,139 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 9, position 77227431, gene VPS13A (vacuolar protein sorting 13 homolog A). What disease(s) is it linked to if pathogenic? | pathogenic | TCGGACTACAGGCATGTGCCACCATGCCTAGCTAATTTGTATATGTTTTGTAGAGGTTTTGCAGTGTTGCCCAGGCTGGTCTGGAACTCCTGAGTTCAAGTGATTCGCCTGCCTCAGCCTCCCAGAGTGTTGGGGTTACAGGCATGAGCCACTGTGCTTGGCCTTGTAATTATATTTTTAGTTGAAAATGTAACTAATATGTTTACCCTTATCTGTAGTTTAAACCCAAATAAAATCATTTTAAACAATGCATGTACATATTTTAATATGTGTTTATAACTTGAAGAGTTTGGAACTCTTTATGCAGAATATGTATTATT... | TCGGACTACAGGCATGTGCCACCATGCCTAGCTAATTTGTATATGTTTTGTAGAGGTTTTGCAGTGTTGCCCAGGCTGGTCTGGAACTCCTGAGTTCAAGTGATTCGCCTGCCTCAGCCTCCCAGAGTGTTGGGGTTACAGGCATGAGCCACTGTGCTTGGCCTTGTAATTATATTTTTAGTTGAAAATGTAACTAATATGTTTACCCTTATCTGTAGTTTAAACCCAAATAAAATCATTTTAAACAATGCATGTACATATTTTAATATGTGTTTATAACTTGAAGAGTTTGGAACTCTTTATGCAGAATATGTATTATT... | pathogenic | 145,145 |
Gene mutation in VPS13A (vacuolar protein sorting 13 homolog A) at chromosome 9, position 77252316—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Chorea-acanthocytosis'] | GAAGTGATTAATTAGGTTTTTAGACACTTTGAAGACCTTCCTCTTAAATGTGTTAGAACGTCTATATTTTTGAATTAGAAATGATAGTAAATATTGTCTAGCTGTTCTTACCAGGAGCAGTCTTGCCCCCCCAAGAGACATTTGTCAATATCTGGAGACATCTTTGGTTGTCACAGGTAGAGCATGAGTGGCACTCCTAGCATCTAGTGGGTAAAGGTGAGGGATACTACTAAGCATCCTACGATGTTCAGGCCAGTCCCTCATAATAAATATCAGTAGTGCTGAGGTCGAGAAATCCTGATCTGTACCAATGTTTTCCA... | GAAGTGATTAATTAGGTTTTTAGACACTTTGAAGACCTTCCTCTTAAATGTGTTAGAACGTCTATATTTTTGAATTAGAAATGATAGTAAATATTGTCTAGCTGTTCTTACCAGGAGCAGTCTTGCCCCCCCAAGAGACATTTGTCAATATCTGGAGACATCTTTGGTTGTCACAGGTAGAGCATGAGTGGCACTCCTAGCATCTAGTGGGTAAAGGTGAGGGATACTACTAAGCATCCTACGATGTTCAGGCCAGTCCCTCATAATAAATATCAGTAGTGCTGAGGTCGAGAAATCCTGATCTGTACCAATGTTTTCCA... | pathogenic | 145,161 |
Is the variant located on chromosome 9 at position 77273351, gene VPS13A (vacuolar protein sorting 13 homolog A), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Chorea-acanthocytosis'] | CCATGTCAAGGTGTTGCCATGACAAGGATTTAAAACTCTCATATGTTACTTGTGAAACTTGAAAATAGCATAACCCTTTGTAATTTAGTTTGGTAGTTTTTAAAAATAAGGTTAAGTATATACTTACCATATGACTTGGGAATTCTACTCCTAGGTTTTTACCCAAGAGAAATGAAGTCACATGCCTACCAAAAGACTTGAACTAGAATACTCACAGTAGGGTTATTCATAATAGTAAAAAGTTGCATAAAACCCAATTGTCTATCCAGAAGTGAATGGATAAGGAAAAATAGTATATTCATACAGTAGACTACTACTCA... | CCATGTCAAGGTGTTGCCATGACAAGGATTTAAAACTCTCATATGTTACTTGTGAAACTTGAAAATAGCATAACCCTTTGTAATTTAGTTTGGTAGTTTTTAAAAATAAGGTTAAGTATATACTTACCATATGACTTGGGAATTCTACTCCTAGGTTTTTACCCAAGAGAAATGAAGTCACATGCCTACCAAAAGACTTGAACTAGAATACTCACAGTAGGGTTATTCATAATAGTAAAAAGTTGCATAAAACCCAATTGTCTATCCAGAAGTGAATGGATAAGGAAAAATAGTATATTCATACAGTAGACTACTACTCA... | pathogenic | 145,168 |
Gene mutation in VPS13A (vacuolar protein sorting 13 homolog A) at chromosome 9, position 77283341—is it benign or pathogenic? If pathogenic, specify the disease(s). | benign | AAATGTCTCACCACAAAGAAAGATAGGAAAGCGAGGTGACAGATATGTTAGTTAGCTTAATTTAATCATTTAACATTGTGTACATATATCAAAACATCACATTGTCCTCCATAAGTGTATATAATTATGATTTGTCAATCAAAAATATTAAATTTTTTAAAAAGAAAAAGAAAACACAGAGTATTTGGATACTTGGTGGACAATTCTGTCACAAATTTTGTTTTTAAATACAGGAAGAATTAGGAAGAACCGTACAGAGTTGTTGATGACCGAATGATTATTCTCCACACTTGATAATATCCAACATTTCCTCTCTTAAT... | AAATGTCTCACCACAAAGAAAGATAGGAAAGCGAGGTGACAGATATGTTAGTTAGCTTAATTTAATCATTTAACATTGTGTACATATATCAAAACATCACATTGTCCTCCATAAGTGTATATAATTATGATTTGTCAATCAAAAATATTAAATTTTTTAAAAAGAAAAAGAAAACACAGAGTATTTGGATACTTGGTGGACAATTCTGTCACAAATTTTGTTTTTAAATACAGGAAGAATTAGGAAGAACCGTACAGAGTTGTTGATGACCGAATGATTATTCTCCACACTTGATAATATCCAACATTTCCTCTCTTAAT... | benign | 145,189 |
Does the chromosome 9 mutation at position 77293455 within gene VPS13A (vacuolar protein sorting 13 homolog A) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Chorea-acanthocytosis'] | GTAAATATCATAGTATTTATGTCTGGAAACGGGGATGCCTCTTTTCTGCTAAGCTATTAGCTTGGGGTGGGGGGTTGAGCTTAGGTTGGTTTGAATTCCAGATTAATACGATTTCCTTCACTACATTACTGCTTCAGTTTCCTTTAGTTGTACCTTGTGCTTAGGGTGGCTGGAGGCTGTGTTGCTCAGATTTTGCTCCGTGCTGAGCCTTTGACCTTTCTTCTACTCTTGTACCTCAGAAAATTCTCTTTCCACATTCTTAGCTCTTTCCTAGATGTTAGAGGCTCCTGCTGCTTGTTTCTTAGTGCTTGTGAGCTTGA... | GTAAATATCATAGTATTTATGTCTGGAAACGGGGATGCCTCTTTTCTGCTAAGCTATTAGCTTGGGGTGGGGGGTTGAGCTTAGGTTGGTTTGAATTCCAGATTAATACGATTTCCTTCACTACATTACTGCTTCAGTTTCCTTTAGTTGTACCTTGTGCTTAGGGTGGCTGGAGGCTGTGTTGCTCAGATTTTGCTCCGTGCTGAGCCTTTGACCTTTCTTCTACTCTTGTACCTCAGAAAATTCTCTTTCCACATTCTTAGCTCTTTCCTAGATGTTAGAGGCTCCTGCTGCTTGTTTCTTAGTGCTTGTGAGCTTGA... | pathogenic | 145,192 |
Does the variant impacting VPS13A (vacuolar protein sorting 13 homolog A) on chromosome 9, position 77295589, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Chorea-acanthocytosis'] | TACTAATTGGAAATTGCTATATGTCAAATATGGATGAAGACTAGTAAGAATTCCTTGCTTGAGATTTTTTCTGATTTTTTAAATCTTCTGGGTACCATTTATTATACATAATAAATGTGTAGTTCCTTATTTATATAACATCGTTTTGACATAGGAATATTCTAATTAATTGAAATATATATTTCATATAGTAACATTAAGTTTATGTGCATTATATATCATAAATATGTTATATATTAATTAGAACCTTCGTTTTATATGTCATTGGCTTAAGTCTTCGTTTTACCTGACTTGCAACTATAATTTAAAAATACTGAATA... | TACTAATTGGAAATTGCTATATGTCAAATATGGATGAAGACTAGTAAGAATTCCTTGCTTGAGATTTTTTCTGATTTTTTAAATCTTCTGGGTACCATTTATTATACATAATAAATGTGTAGTTCCTTATTTATATAACATCGTTTTGACATAGGAATATTCTAATTAATTGAAATATATATTTCATATAGTAACATTAAGTTTATGTGCATTATATATCATAAATATGTTATATATTAATTAGAACCTTCGTTTTATATGTCATTGGCTTAAGTCTTCGTTTTACCTGACTTGCAACTATAATTTAAAAATACTGAATA... | pathogenic | 145,196 |
Chromosome 9, position 77307929, gene VPS13A (vacuolar protein sorting 13 homolog A): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | benign | CAGATCAGCAGCCCCAGGATCCTTACAGTTCTTTGAACTTCCTCCACTGAGCTCCTGGCAAAAGTGAAGGAAGAGTGCCAATTAATAATCAGTATTTGAGGTGCATGCGATAGACAGATACTAACTGGAAGACATGGTTTAGAAGTTGTAATATTTATTTTCATCTTATTATATGAACTCTTTTTGCAGTGTCTGCTACATAGTTACAAACTAAGTGTCATGAATAAAGAATGAAGGAATGAAAGCTTAAAAAAAACCCCAAACATTAGTAGTATGTATAAGGTACACATGGACTTAATTTTAAAACACTAAATTAGTGT... | CAGATCAGCAGCCCCAGGATCCTTACAGTTCTTTGAACTTCCTCCACTGAGCTCCTGGCAAAAGTGAAGGAAGAGTGCCAATTAATAATCAGTATTTGAGGTGCATGCGATAGACAGATACTAACTGGAAGACATGGTTTAGAAGTTGTAATATTTATTTTCATCTTATTATATGAACTCTTTTTGCAGTGTCTGCTACATAGTTACAAACTAAGTGTCATGAATAAAGAATGAAGGAATGAAAGCTTAAAAAAAACCCCAAACATTAGTAGTATGTATAAGGTACACATGGACTTAATTTTAAAACACTAAATTAGTGT... | benign | 145,204 |
Regarding the variant at chromosome 9 and position 77307929, affecting gene VPS13A (vacuolar protein sorting 13 homolog A): benign or pathogenic? If pathogenic, what are the associated illness(es)? | benign | CAGATCAGCAGCCCCAGGATCCTTACAGTTCTTTGAACTTCCTCCACTGAGCTCCTGGCAAAAGTGAAGGAAGAGTGCCAATTAATAATCAGTATTTGAGGTGCATGCGATAGACAGATACTAACTGGAAGACATGGTTTAGAAGTTGTAATATTTATTTTCATCTTATTATATGAACTCTTTTTGCAGTGTCTGCTACATAGTTACAAACTAAGTGTCATGAATAAAGAATGAAGGAATGAAAGCTTAAAAAAAACCCCAAACATTAGTAGTATGTATAAGGTACACATGGACTTAATTTTAAAACACTAAATTAGTGT... | CAGATCAGCAGCCCCAGGATCCTTACAGTTCTTTGAACTTCCTCCACTGAGCTCCTGGCAAAAGTGAAGGAAGAGTGCCAATTAATAATCAGTATTTGAGGTGCATGCGATAGACAGATACTAACTGGAAGACATGGTTTAGAAGTTGTAATATTTATTTTCATCTTATTATATGAACTCTTTTTGCAGTGTCTGCTACATAGTTACAAACTAAGTGTCATGAATAAAGAATGAAGGAATGAAAGCTTAAAAAAAACCCCAAACATTAGTAGTATGTATAAGGTACACATGGACTTAATTTTAAAACACTAAATTAGTGT... | benign | 145,205 |
Does the genetic variant at chromosome 9, position 77314496, impacting gene VPS13A (vacuolar protein sorting 13 homolog A), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Chorea-acanthocytosis'] | ATGGAGTCTCGCTTTGTCACCCAGGCTGGAGTGCAGTGGTGTGGTCTCAGCTCACTGCAAGCTCCGCCTCCCGGGTTCACACCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCCGCCACCATGCCTGGCTAATTTTTTGTACTTTTAGTAGAGACGGGTTAGCCAGGATGGTCTCGATCGCCTGACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCCAGCCGTTCATATAATTATTTATCAGGAAAACTTCACAGTTCACCAGATGAGATAAGT... | ATGGAGTCTCGCTTTGTCACCCAGGCTGGAGTGCAGTGGTGTGGTCTCAGCTCACTGCAAGCTCCGCCTCCCGGGTTCACACCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCCGCCACCATGCCTGGCTAATTTTTTGTACTTTTAGTAGAGACGGGTTAGCCAGGATGGTCTCGATCGCCTGACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCCAGCCGTTCATATAATTATTTATCAGGAAAACTTCACAGTTCACCAGATGAGATAAGT... | pathogenic | 145,210 |
Chromosome 9, position 77315280, gene VPS13A (vacuolar protein sorting 13 homolog A): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Chorea-acanthocytosis'] | GATTGAAATTAGAATGGTAGAGAGGTTGGGAATTGGCTAGCAAGTGTTAAGAGGGAACTTTCTGGAGGGATATAAGTGTTCAGTATCTTAATTGAAGTAGTGACTATGTGGAAATATACACTTATCAAATTTCATCAAATAGTTCATATAAGATACATGTATTTCATTGTATGTAAATTTTTATCACAATTGAAAATACATTACCTGGCATAATGGTACTTTTCTCTGAAGTTAGATATAATGAGAATTAGAAAGTGCTGCGTTTTCATTTTAAGCTCATTTAATATGTGCATATAATGCCTTGATTCAAAATTCAAATG... | GATTGAAATTAGAATGGTAGAGAGGTTGGGAATTGGCTAGCAAGTGTTAAGAGGGAACTTTCTGGAGGGATATAAGTGTTCAGTATCTTAATTGAAGTAGTGACTATGTGGAAATATACACTTATCAAATTTCATCAAATAGTTCATATAAGATACATGTATTTCATTGTATGTAAATTTTTATCACAATTGAAAATACATTACCTGGCATAATGGTACTTTTCTCTGAAGTTAGATATAATGAGAATTAGAAAGTGCTGCGTTTTCATTTTAAGCTCATTTAATATGTGCATATAATGCCTTGATTCAAAATTCAAATG... | pathogenic | 145,212 |
Classify the chromosome 9 variant at position 77323140 affecting gene VPS13A (vacuolar protein sorting 13 homolog A) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Chorea-acanthocytosis'] | ATGTTGGTATTGGGATTTGTCTAGTTATGTTGTGTTCTTAGAATTTTTCCTTATATTTCTATGATTTATCATTTTAGATGAAAAAGAAAGCAAAAATGGCCATTGTTGAGTCAGATCCTGAAGAAGAAAACTACAAAGTGCCAGAATATAAAACTGTCATCAGTTTCCATTCAAAAGACCAATTAAACATTACATTATCCAAATGTGGTCTTGTAATGTTAAACAATTTAGTCAAGGTAAGAAAAGAAATTTGAAACTTTAAATATTGAGATACTTGTCTGATTGATCTGTCTGTTGAATAAGAAGTTTAATAACTTAGT... | ATGTTGGTATTGGGATTTGTCTAGTTATGTTGTGTTCTTAGAATTTTTCCTTATATTTCTATGATTTATCATTTTAGATGAAAAAGAAAGCAAAAATGGCCATTGTTGAGTCAGATCCTGAAGAAGAAAACTACAAAGTGCCAGAATATAAAACTGTCATCAGTTTCCATTCAAAAGACCAATTAAACATTACATTATCCAAATGTGGTCTTGTAATGTTAAACAATTTAGTCAAGGTAAGAAAAGAAATTTGAAACTTTAAATATTGAGATACTTGTCTGATTGATCTGTCTGTTGAATAAGAAGTTTAATAACTTAGT... | pathogenic | 145,239 |
Clinical impact (benign or pathogenic) of the variant at chromosome 9, location 77332075, gene VPS13A (vacuolar protein sorting 13 homolog A): what disease(s) if pathogenic? | pathogenic; ['Chorea-acanthocytosis'] | TGTAGTTTTTGAGACACAGGGTCTTGCTCTATCGCCCAGGAGTGCAGTGGCATGATCAGTGCTCACTGCAACCTTGACCTCCCAGGCTCAATAATCCTCTCACCTCAGCCTCTGCAGTAGCTCGGACTACATGTCTGCACCACCATACCTGGCTAATCTTTTAATATTTTGTAGAGACAGGGTCTCACTATATTGCCTAGGCTGCTCTTGAACTCCTGAGGTCAAGTGATCCTCCTGCATCAGCCTCCCAAAGTGCTGGAATTATAATAGGTGTGAGCCACTGCGCCCACCCACTTTTATACAGACGGATGCTTCCTTTT... | TGTAGTTTTTGAGACACAGGGTCTTGCTCTATCGCCCAGGAGTGCAGTGGCATGATCAGTGCTCACTGCAACCTTGACCTCCCAGGCTCAATAATCCTCTCACCTCAGCCTCTGCAGTAGCTCGGACTACATGTCTGCACCACCATACCTGGCTAATCTTTTAATATTTTGTAGAGACAGGGTCTCACTATATTGCCTAGGCTGCTCTTGAACTCCTGAGGTCAAGTGATCCTCCTGCATCAGCCTCCCAAAGTGCTGGAATTATAATAGGTGTGAGCCACTGCGCCCACCCACTTTTATACAGACGGATGCTTCCTTTT... | pathogenic | 145,246 |
Variant in VPS13A (vacuolar protein sorting 13 homolog A), chromosome 9, position 77337440—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Chorea-acanthocytosis'] | AAAGAAACTATCATCAGAGGGAACAGGTAACCTGCAGAATGGGGAGAAATTTTTGCAGTCTATCCATCTGACAAAGGACTAATATCCAGAATCTACAAAGAACTGAAAAAAATTTACAAGAAAAAAACAACCCATCAAAAAGTAGGTGAAGGATATGAATAGACACTTCTCAAAAGAAGACATTTATGTGGCCAACAAATGTATGAAAAAAAGCTCATCATTACTGGTCATTAGAGAAATGCAAATCAAAACAACAACAAGATACCATCTCACGCCAGTTAGAATGGCAATCGTTAAAAAGTCAGGACACAACAGATGTT... | AAAGAAACTATCATCAGAGGGAACAGGTAACCTGCAGAATGGGGAGAAATTTTTGCAGTCTATCCATCTGACAAAGGACTAATATCCAGAATCTACAAAGAACTGAAAAAAATTTACAAGAAAAAAACAACCCATCAAAAAGTAGGTGAAGGATATGAATAGACACTTCTCAAAAGAAGACATTTATGTGGCCAACAAATGTATGAAAAAAAGCTCATCATTACTGGTCATTAGAGAAATGCAAATCAAAACAACAACAAGATACCATCTCACGCCAGTTAGAATGGCAATCGTTAAAAAGTCAGGACACAACAGATGTT... | pathogenic | 145,249 |
Gene VPS13A (vacuolar protein sorting 13 homolog A) variant at chromosome position 77339540 on chromosome 9: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Chorea-acanthocytosis'] | CCTGCTCCGAAATCTTCTTCCTTACAAAATTGCTTATTATATAGAGGTATCGGCAAACTGATTTAGTGCCTTCCTGTTTTTGATTTTGTAGTTTCAGTTTTTTAAGATTAAGATCAATAAAAACTATTTTAAAGATCTAATAAAAATTAGAATACTAGTAAAGAATAGGTAATGCAGATATTCTTTTGCAACAAGTATGAGAATTATTATTGAAATAACATTTAAGAACTAGACTTCAGTGACAAAAAAGCATGCTACATTATGTTGTATTCTTTTAGTGCTGATTTTCTTAAAAGATTGTATACTTTGTGAAGTTGCTT... | CCTGCTCCGAAATCTTCTTCCTTACAAAATTGCTTATTATATAGAGGTATCGGCAAACTGATTTAGTGCCTTCCTGTTTTTGATTTTGTAGTTTCAGTTTTTTAAGATTAAGATCAATAAAAACTATTTTAAAGATCTAATAAAAATTAGAATACTAGTAAAGAATAGGTAATGCAGATATTCTTTTGCAACAAGTATGAGAATTATTATTGAAATAACATTTAAGAACTAGACTTCAGTGACAAAAAAGCATGCTACATTATGTTGTATTCTTTTAGTGCTGATTTTCTTAAAAGATTGTATACTTTGTGAAGTTGCTT... | pathogenic | 145,259 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 9, position 77340389, gene VPS13A (vacuolar protein sorting 13 homolog A). What disease(s) is it linked to if pathogenic? | benign | TTTCCATATTGAATAACAAATTATCATAGTGGTTAAGAATTTGTACTTTGCTGTCAGGTAGATTTGAAATTGCATCCTAGCTCTGTCATTTGCTAGCTGTATGTTCTTAAGCAGGCTTTATTGCTTTTCTAAATCTTTTGCTGTGGTCTGTAAAATGAGAATAATAATAAAATTTGCTTGGTTAAGACATGGGGGAAATCAAATTAGATTGTGTATGTAAAGGATTTGGTACAGTGCCTCCCAGACACAGGGTTGCCATTTATTTATCACTCTAGCACTACCACCACCATTGTTATTTTGTGGAATATTATTTAACTTGT... | TTTCCATATTGAATAACAAATTATCATAGTGGTTAAGAATTTGTACTTTGCTGTCAGGTAGATTTGAAATTGCATCCTAGCTCTGTCATTTGCTAGCTGTATGTTCTTAAGCAGGCTTTATTGCTTTTCTAAATCTTTTGCTGTGGTCTGTAAAATGAGAATAATAATAAAATTTGCTTGGTTAAGACATGGGGGAAATCAAATTAGATTGTGTATGTAAAGGATTTGGTACAGTGCCTCCCAGACACAGGGTTGCCATTTATTTATCACTCTAGCACTACCACCACCATTGTTATTTTGTGGAATATTATTTAACTTGT... | benign | 145,266 |
The mutation impacting VPS13A (vacuolar protein sorting 13 homolog A) on chromosome 9 at position 77340437: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Chorea-acanthocytosis'] | TGCTGTCAGGTAGATTTGAAATTGCATCCTAGCTCTGTCATTTGCTAGCTGTATGTTCTTAAGCAGGCTTTATTGCTTTTCTAAATCTTTTGCTGTGGTCTGTAAAATGAGAATAATAATAAAATTTGCTTGGTTAAGACATGGGGGAAATCAAATTAGATTGTGTATGTAAAGGATTTGGTACAGTGCCTCCCAGACACAGGGTTGCCATTTATTTATCACTCTAGCACTACCACCACCATTGTTATTTTGTGGAATATTATTTAACTTGTAAAGAATCAAGAACTCCTTACTTTTGCTTTAATTAATTTAAAATCATG... | TGCTGTCAGGTAGATTTGAAATTGCATCCTAGCTCTGTCATTTGCTAGCTGTATGTTCTTAAGCAGGCTTTATTGCTTTTCTAAATCTTTTGCTGTGGTCTGTAAAATGAGAATAATAATAAAATTTGCTTGGTTAAGACATGGGGGAAATCAAATTAGATTGTGTATGTAAAGGATTTGGTACAGTGCCTCCCAGACACAGGGTTGCCATTTATTTATCACTCTAGCACTACCACCACCATTGTTATTTTGTGGAATATTATTTAACTTGTAAAGAATCAAGAACTCCTTACTTTTGCTTTAATTAATTTAAAATCATG... | pathogenic | 145,267 |
Assess the variant on chromosome 9, position 77356791, impacting VPS13A (vacuolar protein sorting 13 homolog A): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Chorea-acanthocytosis', 'VPS13A-related_disorder'] | CATTCCACTTCACTGAAAAAATTGAACCCATCAAAAGCAAACTTCCAGAGACCCATCTCACCCCCCAATATCACAGCTTGCTATCTACCAGCGTTTGCATACTACTTGCTGTACTGACATACTCTCAACAGTTTACAGTAGATATATGTGCTCCTGTTTAAACAGATTTTTCTCTACTTTTGCACTGTACTTCATTTCCTCTTACCTACTTGAGGACATTGTTCCAGCAGTCCTCTTCTTCATCTCTCCTAAGTCAACAGCTTTTGGGTCTCTACTGAATTGTTTCAGTGTTACTTCTCTCAACATAAAAAATTCTCTTG... | CATTCCACTTCACTGAAAAAATTGAACCCATCAAAAGCAAACTTCCAGAGACCCATCTCACCCCCCAATATCACAGCTTGCTATCTACCAGCGTTTGCATACTACTTGCTGTACTGACATACTCTCAACAGTTTACAGTAGATATATGTGCTCCTGTTTAAACAGATTTTTCTCTACTTTTGCACTGTACTTCATTTCCTCTTACCTACTTGAGGACATTGTTCCAGCAGTCCTCTTCTTCATCTCTCCTAAGTCAACAGCTTTTGGGTCTCTACTGAATTGTTTCAGTGTTACTTCTCTCAACATAAAAAATTCTCTTG... | pathogenic | 145,285 |
Evaluate this variant at chromosome 9, position 77371137, gene VPS13A (vacuolar protein sorting 13 homolog A): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Chorea-acanthocytosis'] | CCACCGCATTCCAGCCTGGGCAACAGAGCAGGACTGTCTCAAAAAGAAAAAGAAAAAAAAGAGTAGTGATTAATAAAATGAGATGGTTTAGGAGTTGAAATTGGCATTAAAGGTGTTGGCCTGAGAAAACTGGGCGTGTGTTTTAAATAATGTATAAGAAAAAATAGATCTAATTATCTGAATTGATTAATGTTCATATTTTATTTTTAGGCCATTAAGCAGATGTATGTACTCATTCTTGGACTTGATGTTTTGGGAAATCCATTTGGCTTAATTAGAGAATTTTCTGAAGGTGTAGAAGCATTTTTTTATGAACCTTA... | CCACCGCATTCCAGCCTGGGCAACAGAGCAGGACTGTCTCAAAAAGAAAAAGAAAAAAAAGAGTAGTGATTAATAAAATGAGATGGTTTAGGAGTTGAAATTGGCATTAAAGGTGTTGGCCTGAGAAAACTGGGCGTGTGTTTTAAATAATGTATAAGAAAAAATAGATCTAATTATCTGAATTGATTAATGTTCATATTTTATTTTTAGGCCATTAAGCAGATGTATGTACTCATTCTTGGACTTGATGTTTTGGGAAATCCATTTGGCTTAATTAGAGAATTTTCTGAAGGTGTAGAAGCATTTTTTTATGAACCTTA... | pathogenic | 145,309 |
Benign or pathogenic: chromosome 9, position 77384631, gene VPS13A (vacuolar protein sorting 13 homolog A) variant? Disease(s) if pathogenic? | benign | GGTAGCTTTTATACCAGATATATAATCCTTATATCCAATTACACATGAAGAAGGAAAAGCAAAACTCAGGAACACTGCTATTGTGAATTACTCTTGGATTCTTGTGCTTTGCCTTTGAAAATGCTTAAATGGCCATGACCCTCTTCCTGCTTTATTCTAGTGTAGTCTTTATAAAACTTGTGGGATTTGATAAGCAGTTCACATGCAAACCAGTATCTTTTAATAATACAAAGTAGCATCTGGAACAATAGACAGTTTGAAGTTAGAATCTGCTTAGACAACTTTCTTACTTGGTAAATTCGACTTTTTAAAACCTGGAT... | GGTAGCTTTTATACCAGATATATAATCCTTATATCCAATTACACATGAAGAAGGAAAAGCAAAACTCAGGAACACTGCTATTGTGAATTACTCTTGGATTCTTGTGCTTTGCCTTTGAAAATGCTTAAATGGCCATGACCCTCTTCCTGCTTTATTCTAGTGTAGTCTTTATAAAACTTGTGGGATTTGATAAGCAGTTCACATGCAAACCAGTATCTTTTAATAATACAAAGTAGCATCTGGAACAATAGACAGTTTGAAGTTAGAATCTGCTTAGACAACTTTCTTACTTGGTAAATTCGACTTTTTAAAACCTGGAT... | benign | 145,318 |
Clinical significance of chromosome 9, position 77405870, gene VPS13A (vacuolar protein sorting 13 homolog A): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Chorea-acanthocytosis'] | GTGCAGAAGTCATTGTTAAACTAGGGAAAAAATGAGCAAGTGCATTAGTAAGATGGCAGTCTCTGGGTGGTGGAGAGTGAAAATACGGCTAGCAGGGAGAAGTTAGAGCTAAATAGAAATGAATTGTCAATCTATGGTTTTGTTCACTTATGAAAGGTAAAGTTATATGAGCATTGTGTTGGTTCAAGGTGACTACTAAGCAGTCACTTTTAATGTTGTAATCTCAATTTCTGAATCTAAAATGTATAGCCCTATTTTAATTTTCTTATTTAAAAAGTAACACCAAGTGGAAAACTTCCACAATATTAGAAGTTATACCT... | GTGCAGAAGTCATTGTTAAACTAGGGAAAAAATGAGCAAGTGCATTAGTAAGATGGCAGTCTCTGGGTGGTGGAGAGTGAAAATACGGCTAGCAGGGAGAAGTTAGAGCTAAATAGAAATGAATTGTCAATCTATGGTTTTGTTCACTTATGAAAGGTAAAGTTATATGAGCATTGTGTTGGTTCAAGGTGACTACTAAGCAGTCACTTTTAATGTTGTAATCTCAATTTCTGAATCTAAAATGTATAGCCCTATTTTAATTTTCTTATTTAAAAAGTAACACCAAGTGGAAAACTTCCACAATATTAGAAGTTATACCT... | pathogenic | 145,325 |
The mutation in gene VPS13A (vacuolar protein sorting 13 homolog A) at chromosome 9, position 77407559—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Chorea-acanthocytosis'] | GCATTATGTTAGCTGCATCCCACAAATTTTATGGTGTATTTTCATTCTTATTCTGTTCAAAATATTTTCTAATTTCCTTTGAGATTCTTTGACCCCTGGATTATTTGGAAGTGTTACTTTTAAGCATTTGGAAATACTATTGTTATCTTTTTGTTTGGGTTTCTAGTTTAGTTCTGTTATGATCTGAGGACACACTTTATGGTTCCAGTTCTTTTAAATTCATTAAGAATATAGAATATAGTCTATGTTGATGAATATTGCATTTGCACTTGCGATTCATTCGTATCCTGTTGTTATTGGATATAAGTGCCTCAATTTTA... | GCATTATGTTAGCTGCATCCCACAAATTTTATGGTGTATTTTCATTCTTATTCTGTTCAAAATATTTTCTAATTTCCTTTGAGATTCTTTGACCCCTGGATTATTTGGAAGTGTTACTTTTAAGCATTTGGAAATACTATTGTTATCTTTTTGTTTGGGTTTCTAGTTTAGTTCTGTTATGATCTGAGGACACACTTTATGGTTCCAGTTCTTTTAAATTCATTAAGAATATAGAATATAGTCTATGTTGATGAATATTGCATTTGCACTTGCGATTCATTCGTATCCTGTTGTTATTGGATATAAGTGCCTCAATTTTA... | pathogenic | 145,332 |
Is the chromosome 9, position 77728671 variant in GNAQ (G protein subunit alpha q) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | benign | ATGATATCCATCCTGGATATCATATGTTGACAATGTAATTTTAAAAATAGTCTCTTCTCTTGTTGTTATATCACCTCTATGGTAGATACTTTTGGGTTTCTGCTATGTGATATATGTATGATTCCATTCAATTCTTTCTTGCCCAGGGATAAACTGAGTAGCTAAATAAATTTGTCTGAGGCAACACAGACAGTGAGTGGCAAAGTGGAACTTTTCAGAGCTTGTGCTCTTAACTATCTAGACCACGGCTTGGCAAACTTTCTCTGTAAAGGGCCACAGAGTAATTGAGGCTTTGCAAACAATTCTATCTCTGTCACAAT... | ATGATATCCATCCTGGATATCATATGTTGACAATGTAATTTTAAAAATAGTCTCTTCTCTTGTTGTTATATCACCTCTATGGTAGATACTTTTGGGTTTCTGCTATGTGATATATGTATGATTCCATTCAATTCTTTCTTGCCCAGGGATAAACTGAGTAGCTAAATAAATTTGTCTGAGGCAACACAGACAGTGAGTGGCAAAGTGGAACTTTTCAGAGCTTGTGCTCTTAACTATCTAGACCACGGCTTGGCAAACTTTCTCTGTAAAGGGCCACAGAGTAATTGAGGCTTTGCAAACAATTCTATCTCTGTCACAAT... | benign | 145,345 |
Gene GNAQ (G protein subunit alpha q) variant at chromosome 9, position 77728671—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | benign | ATGATATCCATCCTGGATATCATATGTTGACAATGTAATTTTAAAAATAGTCTCTTCTCTTGTTGTTATATCACCTCTATGGTAGATACTTTTGGGTTTCTGCTATGTGATATATGTATGATTCCATTCAATTCTTTCTTGCCCAGGGATAAACTGAGTAGCTAAATAAATTTGTCTGAGGCAACACAGACAGTGAGTGGCAAAGTGGAACTTTTCAGAGCTTGTGCTCTTAACTATCTAGACCACGGCTTGGCAAACTTTCTCTGTAAAGGGCCACAGAGTAATTGAGGCTTTGCAAACAATTCTATCTCTGTCACAAT... | ATGATATCCATCCTGGATATCATATGTTGACAATGTAATTTTAAAAATAGTCTCTTCTCTTGTTGTTATATCACCTCTATGGTAGATACTTTTGGGTTTCTGCTATGTGATATATGTATGATTCCATTCAATTCTTTCTTGCCCAGGGATAAACTGAGTAGCTAAATAAATTTGTCTGAGGCAACACAGACAGTGAGTGGCAAAGTGGAACTTTTCAGAGCTTGTGCTCTTAACTATCTAGACCACGGCTTGGCAAACTTTCTCTGTAAAGGGCCACAGAGTAATTGAGGCTTTGCAAACAATTCTATCTCTGTCACAAT... | benign | 145,346 |
Benign or pathogenic: chromosome 9, position 78262926, gene CEP78 (centrosomal protein 78) variant? Disease(s) if pathogenic? | pathogenic; ['Cone-rod_dystrophy'] | GTTGACCTGTGGAACCAGGGTATATAAAAAGTCAGTCCTCCTTATGAACTTTTGCGTTGGAGAATACTTGTTTTTGTTTGTTTGTTTGTTTTGAGATGGAGTCTCGCTCTGTTGCCAGGCTGGAGTGCAGTGGCGCAATCTCAGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCCGCCTCCCGAGTAGCTGGGATTACAGGTGCGCACCACCACACCCAGCTAATTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCTCAATTTCCTGACCTTGTGATCTGCCTGCCTCGGCCTC... | GTTGACCTGTGGAACCAGGGTATATAAAAAGTCAGTCCTCCTTATGAACTTTTGCGTTGGAGAATACTTGTTTTTGTTTGTTTGTTTGTTTTGAGATGGAGTCTCGCTCTGTTGCCAGGCTGGAGTGCAGTGGCGCAATCTCAGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCCGCCTCCCGAGTAGCTGGGATTACAGGTGCGCACCACCACACCCAGCTAATTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCTCAATTTCCTGACCTTGTGATCTGCCTGCCTCGGCCTC... | pathogenic | 145,379 |
Is chromosome 9, position 78262949, gene CEP78 (centrosomal protein 78) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Cone-rod_dystrophy', 'Cone-rod_dystrophy_and_hearing_loss_1'] | ATAAAAAGTCAGTCCTCCTTATGAACTTTTGCGTTGGAGAATACTTGTTTTTGTTTGTTTGTTTGTTTTGAGATGGAGTCTCGCTCTGTTGCCAGGCTGGAGTGCAGTGGCGCAATCTCAGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCCGCCTCCCGAGTAGCTGGGATTACAGGTGCGCACCACCACACCCAGCTAATTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCTCAATTTCCTGACCTTGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCA... | ATAAAAAGTCAGTCCTCCTTATGAACTTTTGCGTTGGAGAATACTTGTTTTTGTTTGTTTGTTTGTTTTGAGATGGAGTCTCGCTCTGTTGCCAGGCTGGAGTGCAGTGGCGCAATCTCAGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCCGCCTCCCGAGTAGCTGGGATTACAGGTGCGCACCACCACACCCAGCTAATTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCTCAATTTCCTGACCTTGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCA... | pathogenic | 145,380 |
For chromosome 9, position 78262979, gene CEP78 (centrosomal protein 78): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Cone-rod_dystrophy_and_hearing_loss_1'] | GCGTTGGAGAATACTTGTTTTTGTTTGTTTGTTTGTTTTGAGATGGAGTCTCGCTCTGTTGCCAGGCTGGAGTGCAGTGGCGCAATCTCAGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCCGCCTCCCGAGTAGCTGGGATTACAGGTGCGCACCACCACACCCAGCTAATTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCTCAATTTCCTGACCTTGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCTCAGCCAGAATACTGTA... | GCGTTGGAGAATACTTGTTTTTGTTTGTTTGTTTGTTTTGAGATGGAGTCTCGCTCTGTTGCCAGGCTGGAGTGCAGTGGCGCAATCTCAGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCCGCCTCCCGAGTAGCTGGGATTACAGGTGCGCACCACCACACCCAGCTAATTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCTCAATTTCCTGACCTTGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCTCAGCCAGAATACTGTA... | pathogenic | 145,382 |
Variant in CEP78 (centrosomal protein 78), chromosome 9, position 78265365—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | benign | TGAGACTATCTACTGAAGGGGAATTAGGAAAATGAATAAATAAGGTAAAAGATAATGGAAAACCGGTAAGAATGCAATGAAAGATAAAAATCTATACCATGAGGACTAAATTAGGTGAATGTGCATAAGAGCAGGGCATAAACTAGAAAGTTCTACATAACTATAATTTATTATTACAAAGCAAGTTTAAGGAGGAATTTTTGAAAGTATATGCATTGGTTTGAAAGACAGTTAATCATTCAATAAAGGTTGAGCACCTGATTGTATAAGGCAAAAGGTGCTTTGTGAACACAGTGGCCTTTCTGAGAAATACTAGAGTT... | TGAGACTATCTACTGAAGGGGAATTAGGAAAATGAATAAATAAGGTAAAAGATAATGGAAAACCGGTAAGAATGCAATGAAAGATAAAAATCTATACCATGAGGACTAAATTAGGTGAATGTGCATAAGAGCAGGGCATAAACTAGAAAGTTCTACATAACTATAATTTATTATTACAAAGCAAGTTTAAGGAGGAATTTTTGAAAGTATATGCATTGGTTTGAAAGACAGTTAATCATTCAATAAAGGTTGAGCACCTGATTGTATAAGGCAAAAGGTGCTTTGTGAACACAGTGGCCTTTCTGAGAAATACTAGAGTT... | benign | 145,387 |
Is chromosome 9, position 78265443, gene CEP78 (centrosomal protein 78) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Cone-rod_dystrophy_and_hearing_loss_1'] | GAAAGATAAAAATCTATACCATGAGGACTAAATTAGGTGAATGTGCATAAGAGCAGGGCATAAACTAGAAAGTTCTACATAACTATAATTTATTATTACAAAGCAAGTTTAAGGAGGAATTTTTGAAAGTATATGCATTGGTTTGAAAGACAGTTAATCATTCAATAAAGGTTGAGCACCTGATTGTATAAGGCAAAAGGTGCTTTGTGAACACAGTGGCCTTTCTGAGAAATACTAGAGTTAGACTTATGTGTAGTATTAGATAAATAGATTTGGTGTACAGGAGAGTACATATTTTCAAGAAGCAAAGGGGCAATATT... | GAAAGATAAAAATCTATACCATGAGGACTAAATTAGGTGAATGTGCATAAGAGCAGGGCATAAACTAGAAAGTTCTACATAACTATAATTTATTATTACAAAGCAAGTTTAAGGAGGAATTTTTGAAAGTATATGCATTGGTTTGAAAGACAGTTAATCATTCAATAAAGGTTGAGCACCTGATTGTATAAGGCAAAAGGTGCTTTGTGAACACAGTGGCCTTTCTGAGAAATACTAGAGTTAGACTTATGTGTAGTATTAGATAAATAGATTTGGTGTACAGGAGAGTACATATTTTCAAGAAGCAAAGGGGCAATATT... | pathogenic | 145,388 |
Regarding the variant found on chromosome 9 at position 78300622 in gene PSAT1 (phosphoserine aminotransferase 1): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Neu-Laxova_syndrome_2', 'PSAT_deficiency'] | ATGTTTTGGAGTGTTCCCAACGTTTGTTCCCTATGTATTTCGTTATTAATTTATTACTATAATTGTAATGGCAATTGTCATCAGTAATACAATTATTTGTTATTAATTTTTCTGGGAGGATTTTTGCCCTTGGACTGCATGTAACCTGGGGGGCAGGAGGGTGAGGGGGCAGGCAGATGTTGCTTTTTATGTATTTCCTTGATTTAGTTGAATTGTAAATATTAGAGAAGCTTTCAAACTTCTTTTGACTGTAACCTACAGTGAAAAACATGTTTACAAAATGACAAAGTATACACATTCAATTGTAACAAAAATAAATG... | ATGTTTTGGAGTGTTCCCAACGTTTGTTCCCTATGTATTTCGTTATTAATTTATTACTATAATTGTAATGGCAATTGTCATCAGTAATACAATTATTTGTTATTAATTTTTCTGGGAGGATTTTTGCCCTTGGACTGCATGTAACCTGGGGGGCAGGAGGGTGAGGGGGCAGGCAGATGTTGCTTTTTATGTATTTCCTTGATTTAGTTGAATTGTAAATATTAGAGAAGCTTTCAAACTTCTTTTGACTGTAACCTACAGTGAAAAACATGTTTACAAAATGACAAAGTATACACATTCAATTGTAACAAAAATAAATG... | pathogenic | 145,399 |
Does the variant impacting PSAT1 (phosphoserine aminotransferase 1) on chromosome 9, position 78304839, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Neu-Laxova_syndrome_2', 'PSAT1-related_disorder'] | GAATCAGAATCTCTGGAGAGACTTTATTTTTAACAGGCTCTTTGGGTAATTGTAAGAGTTCTGAACTGTAGGAACTACTGCTTAGACGAAATCTCCTGGGTTATCTGTACTGCCTTTCCTATCCAGAGAATCCCTTATTCTTAAATAGATTGCTATTTAAAGGAGAGATTTTTATATATTATATAAACATGTTCACATAAACCTACGAATATAGCAAGTTTGAAAGCATACCATTTTTTTTCCTGCTCACAGAAATAATGCACATTTATGGTAGGAAAAACACTGTAGCTCACAACTAAACTGAAATTAACTTTAACCCC... | GAATCAGAATCTCTGGAGAGACTTTATTTTTAACAGGCTCTTTGGGTAATTGTAAGAGTTCTGAACTGTAGGAACTACTGCTTAGACGAAATCTCCTGGGTTATCTGTACTGCCTTTCCTATCCAGAGAATCCCTTATTCTTAAATAGATTGCTATTTAAAGGAGAGATTTTTATATATTATATAAACATGTTCACATAAACCTACGAATATAGCAAGTTTGAAAGCATACCATTTTTTTTCCTGCTCACAGAAATAATGCACATTTATGGTAGGAAAAACACTGTAGCTCACAACTAAACTGAAATTAACTTTAACCCC... | pathogenic | 145,405 |
Variant in PSAT1 (phosphoserine aminotransferase 1), chromosome 9, position 78306328—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Neu-Laxova_syndrome_2', 'PSAT1-related_disorder'] | GCAGGATTAGCTCCTACAAGTTTCTTCTTTCCCTCAATAGAAACAGCTTTCCTTACCTAGAAGTTTGAGTAAAGGTCTCAGTACCAAATTCCATTGGCCAGCCTGGGGCAGGTACTCATCCCCTTGAGCCAGGGTTGACCACAGTTGAACCATGTCGACTGAGAGTGGCAGAGGGGTAATTTCCTAAAGGAACATCAGGCTGTTGTCACTAAGAAGAGGAGGAAGAGCTTCAGGTCAAACAGTAACCCTAGGCTTTCAACACAGTCTCCAGTAAATAGTTGTCCAAGGATTGCATAAATAAATGAGTGAATTAGGGAAGA... | GCAGGATTAGCTCCTACAAGTTTCTTCTTTCCCTCAATAGAAACAGCTTTCCTTACCTAGAAGTTTGAGTAAAGGTCTCAGTACCAAATTCCATTGGCCAGCCTGGGGCAGGTACTCATCCCCTTGAGCCAGGGTTGACCACAGTTGAACCATGTCGACTGAGAGTGGCAGAGGGGTAATTTCCTAAAGGAACATCAGGCTGTTGTCACTAAGAAGAGGAGGAAGAGCTTCAGGTCAAACAGTAACCCTAGGCTTTCAACACAGTCTCCAGTAAATAGTTGTCCAAGGATTGCATAAATAAATGAGTGAATTAGGGAAGA... | pathogenic | 145,413 |
Is the variant located on chromosome 9 at position 83971681, gene HNRNPK (heterogeneous nuclear ribonucleoprotein K), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Au-Kline_syndrome'] | CATTAGTAGAACAGAATTAAGAAAACGGAATTGAAAGTTGTTAATATTTGGTAGAAAAGACAAAGAATGCTAGTAAGGTGTGAAATGCTGCATTTTACAGCACCAATCATTTGTCCTGTAGAGGCATGGCCTGTGCCATATGGCAGACTGTGATTTGTTGTCGATTTAGTTATCTAAAAACAACAAAATCACTAGTCTTCCACACAGAACTAGGCCAACATCCAATGAATCTTCTATATTTTCTACAGGCTCTGTACAATTTTTAACAAGTGGTTTTGGCAGCAGTTTTCACCAGAGAAATGAGAAGTTTGCTTGGTTAA... | CATTAGTAGAACAGAATTAAGAAAACGGAATTGAAAGTTGTTAATATTTGGTAGAAAAGACAAAGAATGCTAGTAAGGTGTGAAATGCTGCATTTTACAGCACCAATCATTTGTCCTGTAGAGGCATGGCCTGTGCCATATGGCAGACTGTGATTTGTTGTCGATTTAGTTATCTAAAAACAACAAAATCACTAGTCTTCCACACAGAACTAGGCCAACATCCAATGAATCTTCTATATTTTCTACAGGCTCTGTACAATTTTTAACAAGTGGTTTTGGCAGCAGTTTTCACCAGAGAAATGAGAAGTTTGCTTGGTTAA... | pathogenic | 145,452 |
Is the variant located on chromosome 9 at position 83972055, gene HNRNPK (heterogeneous nuclear ribonucleoprotein K), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Au-Kline_syndrome'] | AAGAAAAATTAAGGCAAACTATTAGAATGTTTAGAAGTTAGGTCCCCAAAAGGTTGAGACACCATGGCTTCTAAAAGAAAAAAATCAATTGAGAAGAAAAGCTTTTTAAAGGTTTTAGTATGTATAAGCTAACACAAAGCTAAACTTAAACTGACCTGTTCTGCAGCAAATACTGTGCATTCTGTATCTGGTCCTGTGTTCCTGTAATGGTAATGATCCGATCTTCGGATCCTTCTAAAGGCTCATCAATTTTGATCGAAGCTCCCGACTCATGACGGATTTGTTTAATCCGCTGACCACCTTTGCCAATAATAGATCCA... | AAGAAAAATTAAGGCAAACTATTAGAATGTTTAGAAGTTAGGTCCCCAAAAGGTTGAGACACCATGGCTTCTAAAAGAAAAAAATCAATTGAGAAGAAAAGCTTTTTAAAGGTTTTAGTATGTATAAGCTAACACAAAGCTAAACTTAAACTGACCTGTTCTGCAGCAAATACTGTGCATTCTGTATCTGGTCCTGTGTTCCTGTAATGGTAATGATCCGATCTTCGGATCCTTCTAAAGGCTCATCAATTTTGATCGAAGCTCCCGACTCATGACGGATTTGTTTAATCCGCTGACCACCTTTGCCAATAATAGATCCA... | pathogenic | 145,456 |
Classify the chromosome 9 variant at position 83972987 affecting gene HNRNPK as benign or pathogenic. If pathogenic, which disease(s) is associated? | benign | AATTACTTTGCCGTTGTAATTACTACCGGTACTTTAAAAAAATTCATTTAATAAAATGGAGTCTTGCTATGTTGCCCAGGCTGGTCTCAAACTCTCGGGCTCAAGTGATCCTCCTGCCTCAGACTCTTTTGTAGTTGGGATTATGAGTGAGCACCACTGCACCCAGCTTCACTATTCAAGTATTTTAATCTCATAAAATCCCTCTTCAGGAAACCAAAGTCCTCCTGTATCCTATTTTCAGTAAGTATCCTCAGGGGAATAAAAAACTTACTGGAGAGCAGGTAAGCATCTTAAATTATCACTGATATACACACGAACAA... | AATTACTTTGCCGTTGTAATTACTACCGGTACTTTAAAAAAATTCATTTAATAAAATGGAGTCTTGCTATGTTGCCCAGGCTGGTCTCAAACTCTCGGGCTCAAGTGATCCTCCTGCCTCAGACTCTTTTGTAGTTGGGATTATGAGTGAGCACCACTGCACCCAGCTTCACTATTCAAGTATTTTAATCTCATAAAATCCCTCTTCAGGAAACCAAAGTCCTCCTGTATCCTATTTTCAGTAAGTATCCTCAGGGGAATAAAAAACTTACTGGAGAGCAGGTAAGCATCTTAAATTATCACTGATATACACACGAACAA... | benign | 145,459 |
Considering the variant on chromosome 9, location 84702151, involving gene NTRK2, would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | benign | GGAGGGGACAGGCTTGCCTGGAAGTCTGGATTGTGACTCCAGAGGAAAACTCGCCCACATTATCTATCCTTTTTGCTGTCAGTTGCATGAGAAAAAGTATTAAAATTCAGGGCTCTTTAGAATGCAGTTCTTACTGTGAGATCATTTAGAAGAGTGAGGTCACTGTGGTCTCTATTGAAAATGTTGGTGAAAAATCTTGCAAAAATGTATCTAAAGTATGATAACTCTGAAACAGTTGATGTTAAAAATTGAGCATTCCTTTCAAGTCTTAAAATGTTTCTTTCTTCTATGTGTGGTGGGAGGAGAGAAGGGAACGAAAG... | GGAGGGGACAGGCTTGCCTGGAAGTCTGGATTGTGACTCCAGAGGAAAACTCGCCCACATTATCTATCCTTTTTGCTGTCAGTTGCATGAGAAAAAGTATTAAAATTCAGGGCTCTTTAGAATGCAGTTCTTACTGTGAGATCATTTAGAAGAGTGAGGTCACTGTGGTCTCTATTGAAAATGTTGGTGAAAAATCTTGCAAAAATGTATCTAAAGTATGATAACTCTGAAACAGTTGATGTTAAAAATTGAGCATTCCTTTCAAGTCTTAAAATGTTTCTTTCTTCTATGTGTGGTGGGAGGAGAGAAGGGAACGAAAG... | benign | 145,481 |
Is the genetic variant on chromosome 9, position 84752092, gene NTRK2 (neurotrophic receptor tyrosine kinase 2), benign or pathogenic? If pathogenic, what disease(s) is indicated? | benign | TTTATGACAGAGATAAAGAGCACTGTGGAGCAGGTGGAGCAGGGTTCCTCAACCTTGGCACTATTGGCGTTTGGGGATAAATAATCCTTTGTTTGGGGGGCTGTCTTGGGCACAGTAGGATGTTAATAATGCCTGGCCTCTACCCACTAGGTGCTAGTAGTACTTTCCCCCTCGTTGTGACAACCCCAAATTGTCAAGTGTCCCCTGGATGGCAATATTATTGTCCCTGGTTGAGAAACACTGCCTTAGACTAAGATCTTGGACAAGAAGTGAAGTTCTACACCCTGGCAGTGACACAAGTCTGAACTAGTCACATGAAC... | TTTATGACAGAGATAAAGAGCACTGTGGAGCAGGTGGAGCAGGGTTCCTCAACCTTGGCACTATTGGCGTTTGGGGATAAATAATCCTTTGTTTGGGGGGCTGTCTTGGGCACAGTAGGATGTTAATAATGCCTGGCCTCTACCCACTAGGTGCTAGTAGTACTTTCCCCCTCGTTGTGACAACCCCAAATTGTCAAGTGTCCCCTGGATGGCAATATTATTGTCCCTGGTTGAGAAACACTGCCTTAGACTAAGATCTTGGACAAGAAGTGAAGTTCTACACCCTGGCAGTGACACAAGTCTGAACTAGTCACATGAAC... | benign | 145,502 |
Considering the genetic mutation at chromosome 9, position 91220992, impacting AUH (AU RNA binding methylglutaconyl-CoA hydratase): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['3-methylglutaconic_aciduria_type_1'] | CTTATTTGTTTGACCTGGAGGAAAATTAATTTTAACAATCAACATTCTGAAGGAGTGTCCTTCCAATGAAAGGTGACAAAGGCACATGCACAGGGACTGTGATGACGGCTGGGTAACCACACAATGGGATGCGGCTCGACACACTGGCAGTGGAAGGAGGGAGCAGAGGAGAGGACAGTGCTCACGTTCTCAGGCGGGGCGGTGTGTGGACGGTGGTGGCATTTGCTGCATGGTGGCCACAGAAGCATCATGGGAGAGAGAGCAAGTCAGGCCCTAAGGGGCTAATAAGCTGCCTATAGGGAGCTCTGAAGTAGAGAGCT... | CTTATTTGTTTGACCTGGAGGAAAATTAATTTTAACAATCAACATTCTGAAGGAGTGTCCTTCCAATGAAAGGTGACAAAGGCACATGCACAGGGACTGTGATGACGGCTGGGTAACCACACAATGGGATGCGGCTCGACACACTGGCAGTGGAAGGAGGGAGCAGAGGAGAGGACAGTGCTCACGTTCTCAGGCGGGGCGGTGTGTGGACGGTGGTGGCATTTGCTGCATGGTGGCCACAGAAGCATCATGGGAGAGAGAGCAAGTCAGGCCCTAAGGGGCTAATAAGCTGCCTATAGGGAGCTCTGAAGTAGAGAGCT... | pathogenic | 145,588 |
Gene AUH variant at chromosome 9, position 91361692—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['3-methylglutaconic_aciduria_type_1'] | AGCCCAGATAACAGATGAGACCTGGTGTATTCTGCACTACTTACCCCCACCCACCTAAAGTGCTGCATGCTGTTTGAGGCTCCTGTGACTAGGAGAGTTATCCTATTCCTTAGAGGCTGCTGAGAGCACCAAATTTTGGACCCACCTCTAAGAGAAATAAAGGCACCCAGGAAACTCCTTCACCTGTAGTACCCTTGACCTCATGTTTTTCTTTGCACTGCTTATTGCTGGTTCAACAGTAAAGCAAAGCAAAGCCTAGGTAATGTTAGCCAAGCCTGAGTCGTCATTCTTGCCAATTCTCAAAGGAGGCGGGGTCAACT... | AGCCCAGATAACAGATGAGACCTGGTGTATTCTGCACTACTTACCCCCACCCACCTAAAGTGCTGCATGCTGTTTGAGGCTCCTGTGACTAGGAGAGTTATCCTATTCCTTAGAGGCTGCTGAGAGCACCAAATTTTGGACCCACCTCTAAGAGAAATAAAGGCACCCAGGAAACTCCTTCACCTGTAGTACCCTTGACCTCATGTTTTTCTTTGCACTGCTTATTGCTGGTTCAACAGTAAAGCAAAGCAAAGCCTAGGTAATGTTAGCCAAGCCTGAGTCGTCATTCTTGCCAATTCTCAAAGGAGGCGGGGTCAACT... | pathogenic | 145,598 |
Mutation at chromosome 9, position 91723486, within ROR2 (receptor tyrosine kinase like orphan receptor 2): benign or pathogenic? If pathogenic, indicate the disease(s). | benign | TGAACAAACAAGCCTGCAAACAAGCCCCTACCCGGCCCCACCCCGGTCTATTGCCATTGGTCACATCCCTTTGTCCAACCACACTTCTGCCTGCCTGTCCACTCCACCAAACTTAGTATGGAAATACACAGGCTTCCCTGCTTCTTTGGGTTGCTTGAGGCTTTTCTCGTTAAGCTGTCTTTTGTTACAGGGGCCTCAGCCATGAGCCTTGCAGTGGGTTAGAAAAAGATGTTACCACAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGC... | TGAACAAACAAGCCTGCAAACAAGCCCCTACCCGGCCCCACCCCGGTCTATTGCCATTGGTCACATCCCTTTGTCCAACCACACTTCTGCCTGCCTGTCCACTCCACCAAACTTAGTATGGAAATACACAGGCTTCCCTGCTTCTTTGGGTTGCTTGAGGCTTTTCTCGTTAAGCTGTCTTTTGTTACAGGGGCCTCAGCCATGAGCCTTGCAGTGGGTTAGAAAAAGATGTTACCACAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGC... | benign | 145,614 |
The genetic variant at chromosome 9, position 92038239, affecting gene SPTLC1 (serine palmitoyltransferase long chain base subunit 1): benign or pathogenic? Disease name(s) if pathogenic? | benign | GATTGTTCTCTTCTCACTCAACTCTCAAGAGGATTTCCTTAAGAGAGCCAGTATCAAACCAGGCCCACAGACAGGAGTTTGGGATCTGTGAGCTGTCCACAGACTTTTCGTTTCCTCTTTCATTACGTGGCTAATTCCTGTAAGCATGGTATTTTAACACCGAGTTGCTTCATTCGCACGTCCTCCTCTGCGTCTCTTTGGTACAAAGCAGTAGTAAGACTTTAGCTGTTGCTATCTAATGAAAAGAGAACAGAGGTGGATTTACTATGCAATGAATACACTGGCATCTGAAGGAGGCAACTGTCCCTCAACATGAAGCA... | GATTGTTCTCTTCTCACTCAACTCTCAAGAGGATTTCCTTAAGAGAGCCAGTATCAAACCAGGCCCACAGACAGGAGTTTGGGATCTGTGAGCTGTCCACAGACTTTTCGTTTCCTCTTTCATTACGTGGCTAATTCCTGTAAGCATGGTATTTTAACACCGAGTTGCTTCATTCGCACGTCCTCCTCTGCGTCTCTTTGGTACAAAGCAGTAGTAAGACTTTAGCTGTTGCTATCTAATGAAAAGAGAACAGAGGTGGATTTACTATGCAATGAATACACTGGCATCTGAAGGAGGCAACTGTCCCTCAACATGAAGCA... | benign | 145,697 |
The genetic variant at chromosome 9, position 92038378, affecting gene SPTLC1 (serine palmitoyltransferase long chain base subunit 1): benign or pathogenic? Disease name(s) if pathogenic? | benign | GTAAGCATGGTATTTTAACACCGAGTTGCTTCATTCGCACGTCCTCCTCTGCGTCTCTTTGGTACAAAGCAGTAGTAAGACTTTAGCTGTTGCTATCTAATGAAAAGAGAACAGAGGTGGATTTACTATGCAATGAATACACTGGCATCTGAAGGAGGCAACTGTCCCTCAACATGAAGCATGTGTGGACAACTGTCCTGATGCAGTTCGAGAAGAGACTCAGTGAGAACGGCGGAGCCATTACTCAGACCCAACACCAGCGCATGCAGCTCATGAGCCTGCTCTGTGAACACAGCTCTCAGCTGTCCCGCTGGGGCAAG... | GTAAGCATGGTATTTTAACACCGAGTTGCTTCATTCGCACGTCCTCCTCTGCGTCTCTTTGGTACAAAGCAGTAGTAAGACTTTAGCTGTTGCTATCTAATGAAAAGAGAACAGAGGTGGATTTACTATGCAATGAATACACTGGCATCTGAAGGAGGCAACTGTCCCTCAACATGAAGCATGTGTGGACAACTGTCCTGATGCAGTTCGAGAAGAGACTCAGTGAGAACGGCGGAGCCATTACTCAGACCCAACACCAGCGCATGCAGCTCATGAGCCTGCTCTGTGAACACAGCTCTCAGCTGTCCCGCTGGGGCAAG... | benign | 145,702 |
Is the variant located on chromosome 9 at position 92112502, gene SPTLC1 (serine palmitoyltransferase long chain base subunit 1), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Amyotrophic_lateral_sclerosis_27,_juvenile', 'EMG_abnormality', 'Falls', 'Hereditary_sensory_and_autonomic_neuropathy_type_1', 'Muscle_spasm', 'Neuropathy,_hereditary_sensory_and_autonomic,_type_1A', 'Proximal_lower_limb_amyotrophy', 'Proximal_muscle_weakness'] | CATTCTAATCCTAGGCCTAATTTATGAATGAACCCAAAAAGGATTAGATTGAGTTGAACTGGTAAATAGTTTAAATTAAATGATTTCGACTCATTAGATTATGATAGACCATATTTACCAAATGCCATTTATTTATATTAACATTATATTAGCATATACCATAGCACTGCTGGGAGTACTAATCTATCGATCCCACCTAATACCATCTCTATTATGCCTAGAAGGCATCATACTATCAATATTTATCATAAATACACTCATAATTTTAAACATGCATTTCACTCTAGGATTCATAATACCCATTATCCTCTTAGTATTTG... | CATTCTAATCCTAGGCCTAATTTATGAATGAACCCAAAAAGGATTAGATTGAGTTGAACTGGTAAATAGTTTAAATTAAATGATTTCGACTCATTAGATTATGATAGACCATATTTACCAAATGCCATTTATTTATATTAACATTATATTAGCATATACCATAGCACTGCTGGGAGTACTAATCTATCGATCCCACCTAATACCATCTCTATTATGCCTAGAAGGCATCATACTATCAATATTTATCATAAATACACTCATAATTTTAAACATGCATTTCACTCTAGGATTCATAATACCCATTATCCTCTTAGTATTTG... | pathogenic | 145,732 |
Clinical classification of chromosome 9, position 92229032, gene IARS1 (isoleucyl-tRNA synthetase 1): benign or pathogenic? Disease(s) if pathogenic? | pathogenic | GAGATTAGGGAGTGGTGATGACTCTTAACGAGCATGCTGCCTTCAAGCATCTGTTTAACAAAGCACATCTTGCACCGCCCTTAATCCATTCAACCCTGAGTGGACACAGCACATGTTTCAGAGAGCACAGGGTTGGGGGTAAGGTCACAGATCAACAGGATCCCAAGGCAGAAGAATTTTTCTTAGTACAGAACAAAATGAAAAGTCTCCCATGTCTACCTCTTTCTACACAGACACGGCAACCATCCGATTTCTCAATCTTTTCCCCACCTTTCCCCCCTTTCTATTCCACAAAACCGCCATTGTCATCATGGCCCGTT... | GAGATTAGGGAGTGGTGATGACTCTTAACGAGCATGCTGCCTTCAAGCATCTGTTTAACAAAGCACATCTTGCACCGCCCTTAATCCATTCAACCCTGAGTGGACACAGCACATGTTTCAGAGAGCACAGGGTTGGGGGTAAGGTCACAGATCAACAGGATCCCAAGGCAGAAGAATTTTTCTTAGTACAGAACAAAATGAAAAGTCTCCCATGTCTACCTCTTTCTACACAGACACGGCAACCATCCGATTTCTCAATCTTTTCCCCACCTTTCCCCCCTTTCTATTCCACAAAACCGCCATTGTCATCATGGCCCGTT... | pathogenic | 145,738 |
Considering the genetic mutation at chromosome 9, position 92268221, impacting IARS1 (isoleucyl-tRNA synthetase 1): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic | TTTATTATGTGCAAATTGTCAAAGTAACTGGCATAAGTGAAACATCTTAGATTATTTCTCTAAGGCATTTTAGTTTCCTCCTGGCACCTGAATCTGGCTCATTAATCTAGAATCTTCCCAAGAAAAAGCTAGAGCTAAATTATAGTCATACAGTGCTTAATGGTGGGAATACATTCTGAGAAATGCATTGTTAGGGTGATTTCCTTAGGCAAACATCACAGACCTAGATGGGATGGCCTAAAACACAGCTAGGCTATATGGTGGAGCCTATTACTTCTAAGCTACAAACCTGTACAGCATGTGGCTGTACTGAATTCTGC... | TTTATTATGTGCAAATTGTCAAAGTAACTGGCATAAGTGAAACATCTTAGATTATTTCTCTAAGGCATTTTAGTTTCCTCCTGGCACCTGAATCTGGCTCATTAATCTAGAATCTTCCCAAGAAAAAGCTAGAGCTAAATTATAGTCATACAGTGCTTAATGGTGGGAATACATTCTGAGAAATGCATTGTTAGGGTGATTTCCTTAGGCAAACATCACAGACCTAGATGGGATGGCCTAAAACACAGCTAGGCTATATGGTGGAGCCTATTACTTCTAAGCTACAAACCTGTACAGCATGTGGCTGTACTGAATTCTGC... | pathogenic | 145,747 |
Variant at chromosome position 92718521, chromosome 9, gene BICD2 (BICD cargo adaptor 2): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | benign | GGATACTGAGAAACTGGGAGTGCACGGCACCAGGCTTGAGAGAAGCAGGCCCTATGTGCATGCAGTTCCCACCCTGTCCAGCTCAGATCCTCAGCTTGCTCACCCATAAAAAGGAAACATCTAGGTTATCTGCTGGGCCCATGGTGGGCCTGGCTGTCCCCCATGCAGGGCTGACCCCATGGTGCTATCCCAACATGACCCAGCAGGTGGCGCTACCCATCTTTGGAAAGTGAAAGACAGCGGTACCTGTCAGGGGGCACCTGGGAAGATGCTGAAACCAGGACCTGCCCCACAGAGGCCTGTGAACACTTAGGGAGCCT... | GGATACTGAGAAACTGGGAGTGCACGGCACCAGGCTTGAGAGAAGCAGGCCCTATGTGCATGCAGTTCCCACCCTGTCCAGCTCAGATCCTCAGCTTGCTCACCCATAAAAAGGAAACATCTAGGTTATCTGCTGGGCCCATGGTGGGCCTGGCTGTCCCCCATGCAGGGCTGACCCCATGGTGCTATCCCAACATGACCCAGCAGGTGGCGCTACCCATCTTTGGAAAGTGAAAGACAGCGGTACCTGTCAGGGGGCACCTGGGAAGATGCTGAAACCAGGACCTGCCCCACAGAGGCCTGTGAACACTTAGGGAGCCT... | benign | 145,781 |
Clinical impact (benign or pathogenic) of the variant at chromosome 9, location 92719006, gene BICD2 (BICD cargo adaptor 2): what disease(s) if pathogenic? | pathogenic; ['Absent_speech', 'Arthrogryposis_multiplex_congenita', 'Cerebral_cortical_atrophy', 'Decreased_fetal_movement', 'Downturned_corners_of_mouth', 'EEG_abnormality', 'Feeding_difficulties', 'Inborn_genetic_diseases', 'Macrocephaly', 'Muscle_weakness', 'Muscular_atrophy', 'Open_mouth', 'Recurrent_fractures', 'S... | GAGGATGGGAGGTGAGTACCCAGCGGTCACAATGACGCAGAGGTACAGGGCTATGCACAGAGGTGGGACCCGAACTGTGGACCCCAGCAGTGACCTGCTCCAGCCAGGAGGATAATCTTCCTTCTGAATCTACAAACATAAATACACACTTGTGCCATATGGCCAAGTTCTTGGGGGCAAATACCTCATGAGAGGAAAGGCCAGGACTCCTCTGTCACCTGTTGGCCCCAAGTTAAGTCCCTGTAAATGTTGGATTCAAGGGGTGGGAGCCCAAGCATCCCCTGAAGCTATGCAACTCTGGCCCATCCACTCCAGGATCT... | GAGGATGGGAGGTGAGTACCCAGCGGTCACAATGACGCAGAGGTACAGGGCTATGCACAGAGGTGGGACCCGAACTGTGGACCCCAGCAGTGACCTGCTCCAGCCAGGAGGATAATCTTCCTTCTGAATCTACAAACATAAATACACACTTGTGCCATATGGCCAAGTTCTTGGGGGCAAATACCTCATGAGAGGAAAGGCCAGGACTCCTCTGTCACCTGTTGGCCCCAAGTTAAGTCCCTGTAAATGTTGGATTCAAGGGGTGGGAGCCCAAGCATCCCCTGAAGCTATGCAACTCTGGCCCATCCACTCCAGGATCT... | pathogenic | 145,803 |
Chromosome 9, position 94603132, gene FBP1 (fructose-bisphosphatase 1): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | benign | CCTTGACTACAATAGATATTACAATTAACATTTTGCAAATGAAGAAAGGGAGACTCAGAGAGGTTAAAAATATTGCCAAGCTTGGTCTAGTTTAGTCAGGATAGCGTATGTTATCGTGCAGCAACAAATAAACCTGAAATCCCCACGGCTTAGCACAGCAAAGGTTTGTCTCTCCTTCTGGTCCCAGGCTGACATCGACATGGCGGTGGCTTAGGCCTCCAGGCTCCTGCCATGTCATGAACCTGTACAAAAATGCATGGCTTCAGAGGAGGACCCATCCTAATGTAGGTAATCTAGGCTCATCTCATCTTAATCCTTAC... | CCTTGACTACAATAGATATTACAATTAACATTTTGCAAATGAAGAAAGGGAGACTCAGAGAGGTTAAAAATATTGCCAAGCTTGGTCTAGTTTAGTCAGGATAGCGTATGTTATCGTGCAGCAACAAATAAACCTGAAATCCCCACGGCTTAGCACAGCAAAGGTTTGTCTCTCCTTCTGGTCCCAGGCTGACATCGACATGGCGGTGGCTTAGGCCTCCAGGCTCCTGCCATGTCATGAACCTGTACAAAAATGCATGGCTTCAGAGGAGGACCCATCCTAATGTAGGTAATCTAGGCTCATCTCATCTTAATCCTTAC... | benign | 145,901 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 9, position 94603437, gene FBP1 (fructose-bisphosphatase 1). What disease(s) is it linked to if pathogenic? | pathogenic; ['Fructose-biphosphatase_deficiency', 'Inborn_genetic_diseases'] | CATCTTAATCCTTACTTTAATTAGATCTGCAAAGACCCTCATTCTTTTTTCTTTTTTTTTTTTTTTTTTTGAGACGAGTCTCGCTCTGTCGCCCAGGCTGCAGTGCAGTGGTGTGATCTCGGCTCACTGCAAGCTCTGCCTCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCAACTATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTTGATCTCCTGACCTTGTGATCCGCCCGCCCGCCTTGGCCTCCCAAAGTGC... | CATCTTAATCCTTACTTTAATTAGATCTGCAAAGACCCTCATTCTTTTTTCTTTTTTTTTTTTTTTTTTTGAGACGAGTCTCGCTCTGTCGCCCAGGCTGCAGTGCAGTGGTGTGATCTCGGCTCACTGCAAGCTCTGCCTCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCAACTATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTTGATCTCCTGACCTTGTGATCCGCCCGCCCGCCTTGGCCTCCCAAAGTGC... | pathogenic | 145,903 |
Variant in FBP1 (fructose-bisphosphatase 1), chromosome 9, position 94603438—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['FBP1-related_disorder', 'Fructose-biphosphatase_deficiency'] | ATCTTAATCCTTACTTTAATTAGATCTGCAAAGACCCTCATTCTTTTTTCTTTTTTTTTTTTTTTTTTTGAGACGAGTCTCGCTCTGTCGCCCAGGCTGCAGTGCAGTGGTGTGATCTCGGCTCACTGCAAGCTCTGCCTCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCAACTATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTTGATCTCCTGACCTTGTGATCCGCCCGCCCGCCTTGGCCTCCCAAAGTGCT... | ATCTTAATCCTTACTTTAATTAGATCTGCAAAGACCCTCATTCTTTTTTCTTTTTTTTTTTTTTTTTTTGAGACGAGTCTCGCTCTGTCGCCCAGGCTGCAGTGCAGTGGTGTGATCTCGGCTCACTGCAAGCTCTGCCTCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCAACTATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTTGATCTCCTGACCTTGTGATCCGCCCGCCCGCCTTGGCCTCCCAAAGTGCT... | pathogenic | 145,905 |
Clinical significance of chromosome 9, position 94605616, gene FBP1 (fructose-bisphosphatase 1): benign or pathogenic? Name the disease(s) if pathogenic. | benign | CTCAGCTGGAAAACAAGACCGGGTAGCGGCCTCCTTGTATCAGAAGGTATTGCGTAAAAAAGAGACTTTTCTGCAGCAAAACATGCAGAGCTGGTGGGAGTTTCCAAGGGAACGAATACTGTATTTTTCCTTCCTGTGAGGCTGTAAAAGTTTCCTCCCACCCCAGGTTGCATCTGAGACAAAACAGTTAACCATTTGGTTAAATTCAACCATTCATCAAGCCAGTGCCAGCAATAGATTACCTGATGCAAATGTGAGACAGACCACCTGCATACTGGACAGAATGACATTTTGGCAGAAGCGATCATTGCCTTCTCTTT... | CTCAGCTGGAAAACAAGACCGGGTAGCGGCCTCCTTGTATCAGAAGGTATTGCGTAAAAAAGAGACTTTTCTGCAGCAAAACATGCAGAGCTGGTGGGAGTTTCCAAGGGAACGAATACTGTATTTTTCCTTCCTGTGAGGCTGTAAAAGTTTCCTCCCACCCCAGGTTGCATCTGAGACAAAACAGTTAACCATTTGGTTAAATTCAACCATTCATCAAGCCAGTGCCAGCAATAGATTACCTGATGCAAATGTGAGACAGACCACCTGCATACTGGACAGAATGACATTTTGGCAGAAGCGATCATTGCCTTCTCTTT... | benign | 145,917 |
Variant on chromosome 9, at position 94606815, affecting FBP1 (fructose-bisphosphatase 1): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Fructose-biphosphatase_deficiency'] | AGTAAGACTCTGCCTAAAAAGCCATCTGTCCACTGGGAAAACATAAGAAGGACACAATACTTGGGAAGGAAGCACACTGTCACCCTGGCAGAAGGAAAGCAGGGCAGCTCTGAGCGAGCGTGAGGGAGCACAGCCACCCTGCAGCCTGCTGGGAACACCATGGGCTTGGACTAGTGAGTCGGTGGTGACGGCTCACCTGAAAGCTCTAGGTTTCCCCAGAGATTCTTTCCTCCCCTAAAAGGTATCGTTTTCCAAGTAGTGGATGTTGACTCACTAGTTACCTCTGTTTTACACCTTTTGAAAGCAATCAAAGAAGACTT... | AGTAAGACTCTGCCTAAAAAGCCATCTGTCCACTGGGAAAACATAAGAAGGACACAATACTTGGGAAGGAAGCACACTGTCACCCTGGCAGAAGGAAAGCAGGGCAGCTCTGAGCGAGCGTGAGGGAGCACAGCCACCCTGCAGCCTGCTGGGAACACCATGGGCTTGGACTAGTGAGTCGGTGGTGACGGCTCACCTGAAAGCTCTAGGTTTCCCCAGAGATTCTTTCCTCCCCTAAAAGGTATCGTTTTCCAAGTAGTGGATGTTGACTCACTAGTTACCTCTGTTTTACACCTTTTGAAAGCAATCAAAGAAGACTT... | pathogenic | 145,919 |
A genetic variant on chromosome 9, position 94606905, affects the gene FBP1 (fructose-bisphosphatase 1). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Fructose-biphosphatase_deficiency'] | GAAGGAAAGCAGGGCAGCTCTGAGCGAGCGTGAGGGAGCACAGCCACCCTGCAGCCTGCTGGGAACACCATGGGCTTGGACTAGTGAGTCGGTGGTGACGGCTCACCTGAAAGCTCTAGGTTTCCCCAGAGATTCTTTCCTCCCCTAAAAGGTATCGTTTTCCAAGTAGTGGATGTTGACTCACTAGTTACCTCTGTTTTACACCTTTTGAAAGCAATCAAAGAAGACTTCTACTGAGGATACACATTTGATTCGCTGCCTTGGAAGTGAGGCTGGGTTGTTTCATTTCACTTTATGAATGGAATTCATTTTGCCCCAGC... | GAAGGAAAGCAGGGCAGCTCTGAGCGAGCGTGAGGGAGCACAGCCACCCTGCAGCCTGCTGGGAACACCATGGGCTTGGACTAGTGAGTCGGTGGTGACGGCTCACCTGAAAGCTCTAGGTTTCCCCAGAGATTCTTTCCTCCCCTAAAAGGTATCGTTTTCCAAGTAGTGGATGTTGACTCACTAGTTACCTCTGTTTTACACCTTTTGAAAGCAATCAAAGAAGACTTCTACTGAGGATACACATTTGATTCGCTGCCTTGGAAGTGAGGCTGGGTTGTTTCATTTCACTTTATGAATGGAATTCATTTTGCCCCAGC... | pathogenic | 145,923 |
Variant on chromosome 9, at position 94617801, affecting FBP1 (fructose-bisphosphatase 1): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Fructose-biphosphatase_deficiency'] | ATATTTGAAAGGAAATTATGTATAATACTAGACAATAAGTCACTTTTAGAGATAAAGTGCAAATTTGGGTCTCAGTTCTTTTTTTTTTTTTTTGAGACGGAGTCTAGCTCTGTCACCCGGACTGGAGTCCAGTAGCGCGATCTTGGCTCACTGCAACCTCCACCTCCCAGGTTCATGCCATTCTCCTGCCTCAGCCTCCTGAGTACCTGGGACTACAGGCGCCCGCCACCATGCCCAGTTAATTTTTTGTAATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCAATCTCCTGACCTCATGATCCGC... | ATATTTGAAAGGAAATTATGTATAATACTAGACAATAAGTCACTTTTAGAGATAAAGTGCAAATTTGGGTCTCAGTTCTTTTTTTTTTTTTTTGAGACGGAGTCTAGCTCTGTCACCCGGACTGGAGTCCAGTAGCGCGATCTTGGCTCACTGCAACCTCCACCTCCCAGGTTCATGCCATTCTCCTGCCTCAGCCTCCTGAGTACCTGGGACTACAGGCGCCCGCCACCATGCCCAGTTAATTTTTTGTAATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCAATCTCCTGACCTCATGATCCGC... | pathogenic | 145,933 |
Benign or pathogenic: chromosome 9, position 95101828, gene FANCC variant? Disease(s) if pathogenic? | pathogenic; ['Fanconi_anemia', 'Fanconi_anemia_complementation_group_C', 'Hereditary_cancer-predisposing_syndrome'] | GAACTGGGAGATTCTGCAGATGGGCCGAGGTCAGGGCTTCCAGGCTAGGAAGAAGTCTTCCAGATGCCTAGCTTCACCAGTCCCAGGAGAAGGAAGGAAGGGGCATGGGCAGAGGCCTGGCAGGGGAGGAGGAAGAGGCCAACCCTGTACACAGGACCACAGGACAGGGTGGAGGACTGTCCCAGGAGTCCCTCCACAACAGGAGGCCTGGTCCCAGTGGCCCCTCTCTCTAGGGGTTCCCTGCTGCCACCATGTCCACAGAGGAGTCACAGCTTCCATGGCCCAGCCACAAGTTCTGGCTTAAAGTCAGAACAGGAGAG... | GAACTGGGAGATTCTGCAGATGGGCCGAGGTCAGGGCTTCCAGGCTAGGAAGAAGTCTTCCAGATGCCTAGCTTCACCAGTCCCAGGAGAAGGAAGGAAGGGGCATGGGCAGAGGCCTGGCAGGGGAGGAGGAAGAGGCCAACCCTGTACACAGGACCACAGGACAGGGTGGAGGACTGTCCCAGGAGTCCCTCCACAACAGGAGGCCTGGTCCCAGTGGCCCCTCTCTCTAGGGGTTCCCTGCTGCCACCATGTCCACAGAGGAGTCACAGCTTCCATGGCCCAGCCACAAGTTCTGGCTTAAAGTCAGAACAGGAGAG... | pathogenic | 145,971 |
Does the genetic variant at chromosome 9, position 95101830, impacting gene FANCC, appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Fanconi_anemia', 'Fanconi_anemia_complementation_group_C'] | ACTGGGAGATTCTGCAGATGGGCCGAGGTCAGGGCTTCCAGGCTAGGAAGAAGTCTTCCAGATGCCTAGCTTCACCAGTCCCAGGAGAAGGAAGGAAGGGGCATGGGCAGAGGCCTGGCAGGGGAGGAGGAAGAGGCCAACCCTGTACACAGGACCACAGGACAGGGTGGAGGACTGTCCCAGGAGTCCCTCCACAACAGGAGGCCTGGTCCCAGTGGCCCCTCTCTCTAGGGGTTCCCTGCTGCCACCATGTCCACAGAGGAGTCACAGCTTCCATGGCCCAGCCACAAGTTCTGGCTTAAAGTCAGAACAGGAGAGAG... | ACTGGGAGATTCTGCAGATGGGCCGAGGTCAGGGCTTCCAGGCTAGGAAGAAGTCTTCCAGATGCCTAGCTTCACCAGTCCCAGGAGAAGGAAGGAAGGGGCATGGGCAGAGGCCTGGCAGGGGAGGAGGAAGAGGCCAACCCTGTACACAGGACCACAGGACAGGGTGGAGGACTGTCCCAGGAGTCCCTCCACAACAGGAGGCCTGGTCCCAGTGGCCCCTCTCTCTAGGGGTTCCCTGCTGCCACCATGTCCACAGAGGAGTCACAGCTTCCATGGCCCAGCCACAAGTTCTGGCTTAAAGTCAGAACAGGAGAGAG... | pathogenic | 145,972 |
Regarding the variant found on chromosome 9 at position 95107145 in gene FANCC: is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Fanconi_anemia', 'Fanconi_anemia_complementation_group_C'] | TGGCAGCCAGTCGTCTTTAGCCCTGGGCCACCCTCATGACTCGGATTCGTCTTAGCTGAGACACCAGCACCTGGGAGGCACAGCCTGGGCCCACTCCACAGGACTGTCCTACCAGGATGGAGACAATCTCCTGGCCCTGGTTCTTGGCAGGTGGGTCATGTTACGGGGACTTTCTGTACATGGACATTCACGTTTCAGTCAGGCCCGGCCTGGACGGGAGCAGGAGGGGCCTCTGGGGACTGGGAATATTCCTCTCGAGTTGGCTGCTGGCTGCACAGGTGTTGTTGGTTTGTGAAATTCATCAAGCTGTGTATTTTCTG... | TGGCAGCCAGTCGTCTTTAGCCCTGGGCCACCCTCATGACTCGGATTCGTCTTAGCTGAGACACCAGCACCTGGGAGGCACAGCCTGGGCCCACTCCACAGGACTGTCCTACCAGGATGGAGACAATCTCCTGGCCCTGGTTCTTGGCAGGTGGGTCATGTTACGGGGACTTTCTGTACATGGACATTCACGTTTCAGTCAGGCCCGGCCTGGACGGGAGCAGGAGGGGCCTCTGGGGACTGGGAATATTCCTCTCGAGTTGGCTGCTGGCTGCACAGGTGTTGTTGGTTTGTGAAATTCATCAAGCTGTGTATTTTCTG... | pathogenic | 145,996 |
The genetic variant at chromosome 9, position 95107167, affecting gene FANCC: benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Fanconi_anemia', 'Fanconi_anemia_complementation_group_C'] | CTGGGCCACCCTCATGACTCGGATTCGTCTTAGCTGAGACACCAGCACCTGGGAGGCACAGCCTGGGCCCACTCCACAGGACTGTCCTACCAGGATGGAGACAATCTCCTGGCCCTGGTTCTTGGCAGGTGGGTCATGTTACGGGGACTTTCTGTACATGGACATTCACGTTTCAGTCAGGCCCGGCCTGGACGGGAGCAGGAGGGGCCTCTGGGGACTGGGAATATTCCTCTCGAGTTGGCTGCTGGCTGCACAGGTGTTGTTGGTTTGTGAAATTCATCAAGCTGTGTATTTTCTGTATGTATATGTCAACAAAAGTA... | CTGGGCCACCCTCATGACTCGGATTCGTCTTAGCTGAGACACCAGCACCTGGGAGGCACAGCCTGGGCCCACTCCACAGGACTGTCCTACCAGGATGGAGACAATCTCCTGGCCCTGGTTCTTGGCAGGTGGGTCATGTTACGGGGACTTTCTGTACATGGACATTCACGTTTCAGTCAGGCCCGGCCTGGACGGGAGCAGGAGGGGCCTCTGGGGACTGGGAATATTCCTCTCGAGTTGGCTGCTGGCTGCACAGGTGTTGTTGGTTTGTGAAATTCATCAAGCTGTGTATTTTCTGTATGTATATGTCAACAAAAGTA... | pathogenic | 146,001 |
Gene mutation in FANCC at chromosome 9, position 95107196—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Fanconi_anemia', 'Fanconi_anemia_complementation_group_C', 'Hereditary_cancer-predisposing_syndrome'] | TTAGCTGAGACACCAGCACCTGGGAGGCACAGCCTGGGCCCACTCCACAGGACTGTCCTACCAGGATGGAGACAATCTCCTGGCCCTGGTTCTTGGCAGGTGGGTCATGTTACGGGGACTTTCTGTACATGGACATTCACGTTTCAGTCAGGCCCGGCCTGGACGGGAGCAGGAGGGGCCTCTGGGGACTGGGAATATTCCTCTCGAGTTGGCTGCTGGCTGCACAGGTGTTGTTGGTTTGTGAAATTCATCAAGCTGTGTATTTTCTGTATGTATATGTCAACAAAAGTACAAATAAAATAAAAAATAAAACAAAACTC... | TTAGCTGAGACACCAGCACCTGGGAGGCACAGCCTGGGCCCACTCCACAGGACTGTCCTACCAGGATGGAGACAATCTCCTGGCCCTGGTTCTTGGCAGGTGGGTCATGTTACGGGGACTTTCTGTACATGGACATTCACGTTTCAGTCAGGCCCGGCCTGGACGGGAGCAGGAGGGGCCTCTGGGGACTGGGAATATTCCTCTCGAGTTGGCTGCTGGCTGCACAGGTGTTGTTGGTTTGTGAAATTCATCAAGCTGTGTATTTTCTGTATGTATATGTCAACAAAAGTACAAATAAAATAAAAAATAAAACAAAACTC... | pathogenic | 146,005 |
Is the genetic mutation found on chromosome 9 at position 95107210, within the gene FANCC, considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['FANCC-related_disorder', 'Fanconi_anemia', 'Fanconi_anemia_complementation_group_C', 'Hereditary_cancer-predisposing_syndrome'] | AGCACCTGGGAGGCACAGCCTGGGCCCACTCCACAGGACTGTCCTACCAGGATGGAGACAATCTCCTGGCCCTGGTTCTTGGCAGGTGGGTCATGTTACGGGGACTTTCTGTACATGGACATTCACGTTTCAGTCAGGCCCGGCCTGGACGGGAGCAGGAGGGGCCTCTGGGGACTGGGAATATTCCTCTCGAGTTGGCTGCTGGCTGCACAGGTGTTGTTGGTTTGTGAAATTCATCAAGCTGTGTATTTTCTGTATGTATATGTCAACAAAAGTACAAATAAAATAAAAAATAAAACAAAACTCCCAGAGCCAGCATG... | AGCACCTGGGAGGCACAGCCTGGGCCCACTCCACAGGACTGTCCTACCAGGATGGAGACAATCTCCTGGCCCTGGTTCTTGGCAGGTGGGTCATGTTACGGGGACTTTCTGTACATGGACATTCACGTTTCAGTCAGGCCCGGCCTGGACGGGAGCAGGAGGGGCCTCTGGGGACTGGGAATATTCCTCTCGAGTTGGCTGCTGGCTGCACAGGTGTTGTTGGTTTGTGAAATTCATCAAGCTGTGTATTTTCTGTATGTATATGTCAACAAAAGTACAAATAAAATAAAAAATAAAACAAAACTCCCAGAGCCAGCATG... | pathogenic | 146,009 |
Gene FANCC variant at chromosome 9, position 95107220—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Fanconi_anemia', 'Fanconi_anemia_complementation_group_C', 'Hereditary_cancer-predisposing_syndrome'] | AGGCACAGCCTGGGCCCACTCCACAGGACTGTCCTACCAGGATGGAGACAATCTCCTGGCCCTGGTTCTTGGCAGGTGGGTCATGTTACGGGGACTTTCTGTACATGGACATTCACGTTTCAGTCAGGCCCGGCCTGGACGGGAGCAGGAGGGGCCTCTGGGGACTGGGAATATTCCTCTCGAGTTGGCTGCTGGCTGCACAGGTGTTGTTGGTTTGTGAAATTCATCAAGCTGTGTATTTTCTGTATGTATATGTCAACAAAAGTACAAATAAAATAAAAAATAAAACAAAACTCCCAGAGCCAGCATGCTGGTGCTTT... | AGGCACAGCCTGGGCCCACTCCACAGGACTGTCCTACCAGGATGGAGACAATCTCCTGGCCCTGGTTCTTGGCAGGTGGGTCATGTTACGGGGACTTTCTGTACATGGACATTCACGTTTCAGTCAGGCCCGGCCTGGACGGGAGCAGGAGGGGCCTCTGGGGACTGGGAATATTCCTCTCGAGTTGGCTGCTGGCTGCACAGGTGTTGTTGGTTTGTGAAATTCATCAAGCTGTGTATTTTCTGTATGTATATGTCAACAAAAGTACAAATAAAATAAAAAATAAAACAAAACTCCCAGAGCCAGCATGCTGGTGCTTT... | pathogenic | 146,010 |
Does the variant impacting FANCC on chromosome 9, position 95111489, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['FANCC-related_disorder', 'Fanconi_anemia', 'Fanconi_anemia_complementation_group_C', 'Hereditary_cancer-predisposing_syndrome'] | CCTGATTTTTTTTTTTCCTTTTTTTCTCTAGGCATCATTGTACCTTACTGATTCTTAAGGGTATCTAAACGACTTTTTTTTATTTTGTTGTGATCTGATTCAGTTGTTGGCAAAAGGAGATGAACTCTGGCTGCTGGTGGAAAGGGTGGCTTGCCCATGAGTGGGACAGGCCTTCTCACAGGCAGGACACATCCTGGGCGGGGACACGCTTGGTCTTTGCACCCATGTTCTTCACCTCAAGGACATCCACAGAGGCAGTGACGCCAGGCCCAGCACACGATGCGGGGATACGCCACCAGCTGATTTAATTGTGCCTTTTT... | CCTGATTTTTTTTTTTCCTTTTTTTCTCTAGGCATCATTGTACCTTACTGATTCTTAAGGGTATCTAAACGACTTTTTTTTATTTTGTTGTGATCTGATTCAGTTGTTGGCAAAAGGAGATGAACTCTGGCTGCTGGTGGAAAGGGTGGCTTGCCCATGAGTGGGACAGGCCTTCTCACAGGCAGGACACATCCTGGGCGGGGACACGCTTGGTCTTTGCACCCATGTTCTTCACCTCAAGGACATCCACAGAGGCAGTGACGCCAGGCCCAGCACACGATGCGGGGATACGCCACCAGCTGATTTAATTGTGCCTTTTT... | pathogenic | 146,033 |
Regarding the variant found on chromosome 9 at position 95111534 in gene FANCC: is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['FANCC-related_disorder', 'Fanconi_anemia', 'Fanconi_anemia_complementation_group_C', 'Hereditary_cancer-predisposing_syndrome'] | TACTGATTCTTAAGGGTATCTAAACGACTTTTTTTTATTTTGTTGTGATCTGATTCAGTTGTTGGCAAAAGGAGATGAACTCTGGCTGCTGGTGGAAAGGGTGGCTTGCCCATGAGTGGGACAGGCCTTCTCACAGGCAGGACACATCCTGGGCGGGGACACGCTTGGTCTTTGCACCCATGTTCTTCACCTCAAGGACATCCACAGAGGCAGTGACGCCAGGCCCAGCACACGATGCGGGGATACGCCACCAGCTGATTTAATTGTGCCTTTTTAAGTAAATGCACAAATGCAGAGATACTGCTAATTTCAATTCAATC... | TACTGATTCTTAAGGGTATCTAAACGACTTTTTTTTATTTTGTTGTGATCTGATTCAGTTGTTGGCAAAAGGAGATGAACTCTGGCTGCTGGTGGAAAGGGTGGCTTGCCCATGAGTGGGACAGGCCTTCTCACAGGCAGGACACATCCTGGGCGGGGACACGCTTGGTCTTTGCACCCATGTTCTTCACCTCAAGGACATCCACAGAGGCAGTGACGCCAGGCCCAGCACACGATGCGGGGATACGCCACCAGCTGATTTAATTGTGCCTTTTTAAGTAAATGCACAAATGCAGAGATACTGCTAATTTCAATTCAATC... | pathogenic | 146,041 |
Determine if the mutation at chromosome 9, position 95111534 in gene FANCC is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Fanconi_anemia', 'Fanconi_anemia_complementation_group_A', 'Fanconi_anemia_complementation_group_C'] | TACTGATTCTTAAGGGTATCTAAACGACTTTTTTTTATTTTGTTGTGATCTGATTCAGTTGTTGGCAAAAGGAGATGAACTCTGGCTGCTGGTGGAAAGGGTGGCTTGCCCATGAGTGGGACAGGCCTTCTCACAGGCAGGACACATCCTGGGCGGGGACACGCTTGGTCTTTGCACCCATGTTCTTCACCTCAAGGACATCCACAGAGGCAGTGACGCCAGGCCCAGCACACGATGCGGGGATACGCCACCAGCTGATTTAATTGTGCCTTTTTAAGTAAATGCACAAATGCAGAGATACTGCTAATTTCAATTCAATC... | TACTGATTCTTAAGGGTATCTAAACGACTTTTTTTTATTTTGTTGTGATCTGATTCAGTTGTTGGCAAAAGGAGATGAACTCTGGCTGCTGGTGGAAAGGGTGGCTTGCCCATGAGTGGGACAGGCCTTCTCACAGGCAGGACACATCCTGGGCGGGGACACGCTTGGTCTTTGCACCCATGTTCTTCACCTCAAGGACATCCACAGAGGCAGTGACGCCAGGCCCAGCACACGATGCGGGGATACGCCACCAGCTGATTTAATTGTGCCTTTTTAAGTAAATGCACAAATGCAGAGATACTGCTAATTTCAATTCAATC... | pathogenic | 146,042 |
Mutation found at chromosome 9 position 95111591, gene FANCC: benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Fanconi_anemia', 'Fanconi_anemia_complementation_group_C', 'Hereditary_cancer-predisposing_syndrome'] | GTTGTTGGCAAAAGGAGATGAACTCTGGCTGCTGGTGGAAAGGGTGGCTTGCCCATGAGTGGGACAGGCCTTCTCACAGGCAGGACACATCCTGGGCGGGGACACGCTTGGTCTTTGCACCCATGTTCTTCACCTCAAGGACATCCACAGAGGCAGTGACGCCAGGCCCAGCACACGATGCGGGGATACGCCACCAGCTGATTTAATTGTGCCTTTTTAAGTAAATGCACAAATGCAGAGATACTGCTAATTTCAATTCAATCACATACGAATCATGCTTTCTAACACAGTTCACAGTTTGTCTCTCAAGCCTCCCAACA... | GTTGTTGGCAAAAGGAGATGAACTCTGGCTGCTGGTGGAAAGGGTGGCTTGCCCATGAGTGGGACAGGCCTTCTCACAGGCAGGACACATCCTGGGCGGGGACACGCTTGGTCTTTGCACCCATGTTCTTCACCTCAAGGACATCCACAGAGGCAGTGACGCCAGGCCCAGCACACGATGCGGGGATACGCCACCAGCTGATTTAATTGTGCCTTTTTAAGTAAATGCACAAATGCAGAGATACTGCTAATTTCAATTCAATCACATACGAATCATGCTTTCTAACACAGTTCACAGTTTGTCTCTCAAGCCTCCCAACA... | pathogenic | 146,053 |
Chromosome 9, position 95111613, gene FANCC: benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Fanconi_anemia', 'Fanconi_anemia_complementation_group_C'] | CTCTGGCTGCTGGTGGAAAGGGTGGCTTGCCCATGAGTGGGACAGGCCTTCTCACAGGCAGGACACATCCTGGGCGGGGACACGCTTGGTCTTTGCACCCATGTTCTTCACCTCAAGGACATCCACAGAGGCAGTGACGCCAGGCCCAGCACACGATGCGGGGATACGCCACCAGCTGATTTAATTGTGCCTTTTTAAGTAAATGCACAAATGCAGAGATACTGCTAATTTCAATTCAATCACATACGAATCATGCTTTCTAACACAGTTCACAGTTTGTCTCTCAAGCCTCCCAACAGACCATCAAGGGATTAAAGCTC... | CTCTGGCTGCTGGTGGAAAGGGTGGCTTGCCCATGAGTGGGACAGGCCTTCTCACAGGCAGGACACATCCTGGGCGGGGACACGCTTGGTCTTTGCACCCATGTTCTTCACCTCAAGGACATCCACAGAGGCAGTGACGCCAGGCCCAGCACACGATGCGGGGATACGCCACCAGCTGATTTAATTGTGCCTTTTTAAGTAAATGCACAAATGCAGAGATACTGCTAATTTCAATTCAATCACATACGAATCATGCTTTCTAACACAGTTCACAGTTTGTCTCTCAAGCCTCCCAACAGACCATCAAGGGATTAAAGCTC... | pathogenic | 146,057 |
Gene FANCC variant at chromosome 9, position 95114678—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Fanconi_anemia', 'Fanconi_anemia_complementation_group_C'] | GCAGGCACCATGTCAGGGTAGACAGATGCACAGAGCAGTGAGGCTCCCTCATGCTCCCAGCTCCCAGGTTGGCAGCGTGACTGGATCAGGATCAGAGACCGGTCTGGTCCTTCCCTCTGTCTTCCACCAGTAGCTGAATGCACAAGCAGTCCCATGTGGCCACCTGAAAGGTATCTCATGGCTCCAAGGTCTGGATTGAAGTGGGAGCCCCACGAGGTCTAAGTCCTGTTCTGCAGCACCACATGCGCCCTTTCTGGTTGCTGTTTTATTCCAGTCTTCACGCATTTGACATCACACATTCTGAGTGATGGTGGAGAGGG... | GCAGGCACCATGTCAGGGTAGACAGATGCACAGAGCAGTGAGGCTCCCTCATGCTCCCAGCTCCCAGGTTGGCAGCGTGACTGGATCAGGATCAGAGACCGGTCTGGTCCTTCCCTCTGTCTTCCACCAGTAGCTGAATGCACAAGCAGTCCCATGTGGCCACCTGAAAGGTATCTCATGGCTCCAAGGTCTGGATTGAAGTGGGAGCCCCACGAGGTCTAAGTCCTGTTCTGCAGCACCACATGCGCCCTTTCTGGTTGCTGTTTTATTCCAGTCTTCACGCATTTGACATCACACATTCTGAGTGATGGTGGAGAGGG... | pathogenic | 146,071 |
Is chromosome 9, position 95117342, gene FANCC variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Fanconi_anemia', 'Fanconi_anemia_complementation_group_C', 'Hereditary_cancer-predisposing_syndrome'] | GCCCCCGCTGAGACTGGGAAATGCCGGGTTGCGGATGCCCTAGGTTTCTTCTTTTCTACCTACACACTCCTCCATCACTAATGTGTTGATTTCAAAATAGACGGAGACTGTAGTAAAGCAGCCAATAAGGAATTAGGAATAGACTGCCTGACTGCTTTCCTAGGGCTGTGATGAATTCACAATATGATTTCAGGTTTACAGTGGAAAAAAAGGCCAGGAAAGAAAATAAGTGAGCATTATGCAAACAAATGTCTTTTCTTGAGTGAGCTGCTCTGGTTTCACAGTCATCCTGTGGTTTTAAATACAGCTGAGCAGCACGT... | GCCCCCGCTGAGACTGGGAAATGCCGGGTTGCGGATGCCCTAGGTTTCTTCTTTTCTACCTACACACTCCTCCATCACTAATGTGTTGATTTCAAAATAGACGGAGACTGTAGTAAAGCAGCCAATAAGGAATTAGGAATAGACTGCCTGACTGCTTTCCTAGGGCTGTGATGAATTCACAATATGATTTCAGGTTTACAGTGGAAAAAAAGGCCAGGAAAGAAAATAAGTGAGCATTATGCAAACAAATGTCTTTTCTTGAGTGAGCTGCTCTGGTTTCACAGTCATCCTGTGGTTTTAAATACAGCTGAGCAGCACGT... | pathogenic | 146,087 |
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