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 |
|---|---|---|---|---|---|
Variant on chromosome 7, at position 16091614, affecting CRPPA (CDP-L-ribitol pyrophosphorylase A): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | benign | CATATATATGGGTATACATGCATGTATATACATATATATGGGTATACATACATGTATATGTATGTATGTATTTTTTTTTCCCAATGCTGTGAATTGCTTTGCCTGCTATGAAGGACCAAATGCTATTTTTTCCAGGCACAACTTAATATTTTATTAACTAAATTATACTAAATGTTACCAGTTGCCTAGGGTAATGTCATAGTAAGTACTCTGAGATAAATTCTTGTCTGCTGTAGGATTCCTTAAGCTGAAGTCTATGTTAACTCAGCCAGCACTCCAGCGATCAGGGTGATTTTGCTGTGCCACAAATATGCCCAGTT... | CATATATATGGGTATACATGCATGTATATACATATATATGGGTATACATACATGTATATGTATGTATGTATTTTTTTTTCCCAATGCTGTGAATTGCTTTGCCTGCTATGAAGGACCAAATGCTATTTTTTCCAGGCACAACTTAATATTTTATTAACTAAATTATACTAAATGTTACCAGTTGCCTAGGGTAATGTCATAGTAAGTACTCTGAGATAAATTCTTGTCTGCTGTAGGATTCCTTAAGCTGAAGTCTATGTTAACTCAGCCAGCACTCCAGCGATCAGGGTGATTTTGCTGTGCCACAAATATGCCCAGTT... | benign | 116,711 |
Evaluate the clinical significance of the mutation at chromosome 7, position 16258392 in gene CRPPA: benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2U', 'Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies),_type_A,_7', 'Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies),_type_a,_8'] | AGACAGTGTGGCAATTCCTCAAGAATCTAGAACCAGAAATACCATTAGACCCAGCAATCCCATTACTGGGTATACACCCAAAGGATTATAAATCATTCTACAATAAAGACACATGCACACGTATGTTTATTGCAGCTCTGTTCACAATAGCAAAGTCTTGGAACCAACCCAAATGCCCATCAGTGATAGACTGGATAAAGAAAATATGGCACATACACACCATGGAATACTATGCAGCCATAAAAAAGGATGCATTCATGTCCTTTGCAGGGACATAGATGAAACTAGAAACCATCATTCTCAGCAATCTAACACAAGAA... | AGACAGTGTGGCAATTCCTCAAGAATCTAGAACCAGAAATACCATTAGACCCAGCAATCCCATTACTGGGTATACACCCAAAGGATTATAAATCATTCTACAATAAAGACACATGCACACGTATGTTTATTGCAGCTCTGTTCACAATAGCAAAGTCTTGGAACCAACCCAAATGCCCATCAGTGATAGACTGGATAAAGAAAATATGGCACATACACACCATGGAATACTATGCAGCCATAAAAAAGGATGCATTCATGTCCTTTGCAGGGACATAGATGAAACTAGAAACCATCATTCTCAGCAATCTAACACAAGAA... | pathogenic | 116,724 |
A genetic variant on chromosome 7, position 16258873, affects the gene CRPPA. Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | benign | ATGGGTGTAGCATACCAGCATGCACATGTATACCTATGTAATAAACCTGCACATTGTGCACATGTACCCCAGAACTTAAAGTATAATTTTAAAAAAATGTTGGGAAATACATGGCTGAAGCTTAGGAATCAGATTAGAGCTGTGGAAGTTAATTTGGAGTCATCTCATCCAAAGACAAAAAAAGAGGACCATACTATTAAACAGAACTAACTTCACATGCCTGATCAGGGCCTAGCAGTGTGCTAGAAACTACATTTTGCATTCATTCACTTTCATCCTTATAACAACTTAAGAAGTAGAGTTATTAGCCTTGTTTCTAC... | ATGGGTGTAGCATACCAGCATGCACATGTATACCTATGTAATAAACCTGCACATTGTGCACATGTACCCCAGAACTTAAAGTATAATTTTAAAAAAATGTTGGGAAATACATGGCTGAAGCTTAGGAATCAGATTAGAGCTGTGGAAGTTAATTTGGAGTCATCTCATCCAAAGACAAAAAAAGAGGACCATACTATTAAACAGAACTAACTTCACATGCCTGATCAGGGCCTAGCAGTGTGCTAGAAACTACATTTTGCATTCATTCACTTTCATCCTTATAACAACTTAAGAAGTAGAGTTATTAGCCTTGTTTCTAC... | benign | 116,725 |
Gene mutation in CRPPA (CDP-L-ribitol pyrophosphorylase A) at chromosome 7, position 16278234—is it benign or pathogenic? If pathogenic, specify the disease(s). | benign | TGGATGGCCAAAGAACATGTAAGCTTCATCCAACAGGAATCTCTGAAGAAAACTGAAGTAACCAAACAGAAAAAAACTAAAGAAATAATGTCAAATAAAAAGATTCGAAACTACACAGAAGCATCCACTATGTACCTAGCAATATCAGCCAAAATGACTATAATTAAGAAAACTGTAGTAAAACAAATGGACTTTAAAGGAAAAGAATTATTTGAGCATCCAGGCAAATAGACTAAATCACTTATAAGACAAAGAAAGTCAGATTTTCATCACACTTGACCAAAACACTTTATGACAAAAGAAAATAGACTGGCATATTG... | TGGATGGCCAAAGAACATGTAAGCTTCATCCAACAGGAATCTCTGAAGAAAACTGAAGTAACCAAACAGAAAAAAACTAAAGAAATAATGTCAAATAAAAAGATTCGAAACTACACAGAAGCATCCACTATGTACCTAGCAATATCAGCCAAAATGACTATAATTAAGAAAACTGTAGTAAAACAAATGGACTTTAAAGGAAAAGAATTATTTGAGCATCCAGGCAAATAGACTAAATCACTTATAAGACAAAGAAAGTCAGATTTTCATCACACTTGACCAAAACACTTTATGACAAAAGAAAATAGACTGGCATATTG... | benign | 116,727 |
The mutation in gene CRPPA (CDP-L-ribitol pyrophosphorylase A) at chromosome 7, position 16308637—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | benign | CCAAAGATGTCAAAAGTGAGACCAGGGATTATTGACATGTCAGTAGCAATAAAACGCCTTAGAGTTTCCGCCTTTTTTCTTGGTCTTCAAATTAGGTCTGCCAGACAGCCAAAGGAGTTCTAAAGAAATGTGGGTCAGGACCTTTAATGAAACATCTAACTGGTAATTGCCAAAAATCCTCATAAATATCACTGAGCCATATATAGAAAAGGATGAATAAAATGTTTGCCTGCTGGGTTGATGATAGTTAACCCAGCAGAGGCAGACATTTTAGGTTGTCCTTAAATGAAGAGTAATATTGCATAAAATTTCTTTACCGC... | CCAAAGATGTCAAAAGTGAGACCAGGGATTATTGACATGTCAGTAGCAATAAAACGCCTTAGAGTTTCCGCCTTTTTTCTTGGTCTTCAAATTAGGTCTGCCAGACAGCCAAAGGAGTTCTAAAGAAATGTGGGTCAGGACCTTTAATGAAACATCTAACTGGTAATTGCCAAAAATCCTCATAAATATCACTGAGCCATATATAGAAAAGGATGAATAAAATGTTTGCCTGCTGGGTTGATGATAGTTAACCCAGCAGAGGCAGACATTTTAGGTTGTCCTTAAATGAAGAGTAATATTGCATAAAATTTCTTTACCGC... | benign | 116,734 |
Variant in CRPPA, chromosome 7, position 16421138—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2U', 'Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies),_type_A,_7'] | GGACCCCTCTCCCCACTACCCAGAGAAATGGAATAAAGTTAGCAACTGGAATCATTTCAAATTTTGAGTTTCAGATGTAATCATTGGGCAGATTACCTAAATCAGTGATTATGGCTTTTTACACTTCCATTTTCCAAACTCCAATATTCAGAAAGTAAAATAGTCATATGAGAACCTGAAACTGCCTTTGTGAAAATTATAACTGAGGAAATTAGGACAGTGAAAGATCAGTCCTAACTAACTCCATCTTGCTTCTAACCATTAAGCTCATTCCTTGGCATAGGCCGAACTAACCTTGGGAAGGAATTTAGTTTATGGTT... | GGACCCCTCTCCCCACTACCCAGAGAAATGGAATAAAGTTAGCAACTGGAATCATTTCAAATTTTGAGTTTCAGATGTAATCATTGGGCAGATTACCTAAATCAGTGATTATGGCTTTTTACACTTCCATTTTCCAAACTCCAATATTCAGAAAGTAAAATAGTCATATGAGAACCTGAAACTGCCTTTGTGAAAATTATAACTGAGGAAATTAGGACAGTGAAAGATCAGTCCTAACTAACTCCATCTTGCTTCTAACCATTAAGCTCATTCCTTGGCATAGGCCGAACTAACCTTGGGAAGGAATTTAGTTTATGGTT... | pathogenic | 116,746 |
Assess the variant on chromosome 7, position 16421157, impacting CRPPA: is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2U', 'Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies),_type_A,_7'] | CCAGAGAAATGGAATAAAGTTAGCAACTGGAATCATTTCAAATTTTGAGTTTCAGATGTAATCATTGGGCAGATTACCTAAATCAGTGATTATGGCTTTTTACACTTCCATTTTCCAAACTCCAATATTCAGAAAGTAAAATAGTCATATGAGAACCTGAAACTGCCTTTGTGAAAATTATAACTGAGGAAATTAGGACAGTGAAAGATCAGTCCTAACTAACTCCATCTTGCTTCTAACCATTAAGCTCATTCCTTGGCATAGGCCGAACTAACCTTGGGAAGGAATTTAGTTTATGGTTTGACTCTGGAACAAAATTG... | CCAGAGAAATGGAATAAAGTTAGCAACTGGAATCATTTCAAATTTTGAGTTTCAGATGTAATCATTGGGCAGATTACCTAAATCAGTGATTATGGCTTTTTACACTTCCATTTTCCAAACTCCAATATTCAGAAAGTAAAATAGTCATATGAGAACCTGAAACTGCCTTTGTGAAAATTATAACTGAGGAAATTAGGACAGTGAAAGATCAGTCCTAACTAACTCCATCTTGCTTCTAACCATTAAGCTCATTCCTTGGCATAGGCCGAACTAACCTTGGGAAGGAATTTAGTTTATGGTTTGACTCTGGAACAAAATTG... | pathogenic | 116,747 |
Variant on chromosome 7, at position 16421268, affecting CRPPA: is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2U'] | TTTCCAAACTCCAATATTCAGAAAGTAAAATAGTCATATGAGAACCTGAAACTGCCTTTGTGAAAATTATAACTGAGGAAATTAGGACAGTGAAAGATCAGTCCTAACTAACTCCATCTTGCTTCTAACCATTAAGCTCATTCCTTGGCATAGGCCGAACTAACCTTGGGAAGGAATTTAGTTTATGGTTTGACTCTGGAACAAAATTGATAATAGCCCTTTCCCAAAAAGACCCCTTTCTTGCCTGGGGACCAGTCTGCCTTCACAGGACTAACAAATTAGCTACAAGATTAGAAATTACAGTTTAGGGGTCATGCATC... | TTTCCAAACTCCAATATTCAGAAAGTAAAATAGTCATATGAGAACCTGAAACTGCCTTTGTGAAAATTATAACTGAGGAAATTAGGACAGTGAAAGATCAGTCCTAACTAACTCCATCTTGCTTCTAACCATTAAGCTCATTCCTTGGCATAGGCCGAACTAACCTTGGGAAGGAATTTAGTTTATGGTTTGACTCTGGAACAAAATTGATAATAGCCCTTTCCCAAAAAGACCCCTTTCTTGCCTGGGGACCAGTCTGCCTTCACAGGACTAACAAATTAGCTACAAGATTAGAAATTACAGTTTAGGGGTCATGCATC... | pathogenic | 116,750 |
Regarding the variant at chromosome 7 and position 16421269, affecting gene CRPPA: benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2U', 'Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies),_type_A,_7', 'likely other unspecified diseases'] | TTCCAAACTCCAATATTCAGAAAGTAAAATAGTCATATGAGAACCTGAAACTGCCTTTGTGAAAATTATAACTGAGGAAATTAGGACAGTGAAAGATCAGTCCTAACTAACTCCATCTTGCTTCTAACCATTAAGCTCATTCCTTGGCATAGGCCGAACTAACCTTGGGAAGGAATTTAGTTTATGGTTTGACTCTGGAACAAAATTGATAATAGCCCTTTCCCAAAAAGACCCCTTTCTTGCCTGGGGACCAGTCTGCCTTCACAGGACTAACAAATTAGCTACAAGATTAGAAATTACAGTTTAGGGGTCATGCATCC... | TTCCAAACTCCAATATTCAGAAAGTAAAATAGTCATATGAGAACCTGAAACTGCCTTTGTGAAAATTATAACTGAGGAAATTAGGACAGTGAAAGATCAGTCCTAACTAACTCCATCTTGCTTCTAACCATTAAGCTCATTCCTTGGCATAGGCCGAACTAACCTTGGGAAGGAATTTAGTTTATGGTTTGACTCTGGAACAAAATTGATAATAGCCCTTTCCCAAAAAGACCCCTTTCTTGCCTGGGGACCAGTCTGCCTTCACAGGACTAACAAATTAGCTACAAGATTAGAAATTACAGTTTAGGGGTCATGCATCC... | pathogenic | 116,751 |
Is chromosome 7, position 16462576, gene SOSTDC1 (sclerostin domain containing 1) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | benign | CCTATATTTATTATGAATTTTTCATGTAGTAATATGATGATATAATATGAAGTAATTTAAGATCCTTATTAAGACTGAAAGAGAAATCAGTAGTAGGCTATGATTTGTTTCTTTATTTGGTGGTATAACAGTTAGCATTATTATAAAATCTAGAGTTTTTTTTAGATGCTTCTGCTTCTCACAGGGAAGCAACAATATTAATATTCTTGTTTAGCTTAGTATACTATATGTAATTTACATGTGATTTTCAGACTAGCAATTACAAAAAGAACAATCTACTACAAAATAATTACTAAGGAGTCTTTCGTGCTCAGCATCCC... | CCTATATTTATTATGAATTTTTCATGTAGTAATATGATGATATAATATGAAGTAATTTAAGATCCTTATTAAGACTGAAAGAGAAATCAGTAGTAGGCTATGATTTGTTTCTTTATTTGGTGGTATAACAGTTAGCATTATTATAAAATCTAGAGTTTTTTTTAGATGCTTCTGCTTCTCACAGGGAAGCAACAATATTAATATTCTTGTTTAGCTTAGTATACTATATGTAATTTACATGTGATTTTCAGACTAGCAATTACAAAAAGAACAATCTACTACAAAATAATTACTAAGGAGTCTTTCGTGCTCAGCATCCC... | benign | 116,753 |
Does the variant impacting TWIST1 on chromosome 7, position 19116898, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Saethre-Chotzen_syndrome', 'TWIST1-related_craniosynostosis'] | TTCCCAAATAGCGTCAATATAGCGATATATTAACTTTTCTTTTTAGCAAACATGACACTAAACGTCATATTCATTCATGAGAGAAGAGTTAAGCAAATTACAAATGGAATTTTCTCTTTTCTGCTGATTTACACTTTATTTTCTATGCATTTCTGGTCATTTCTATATGTGTATAGATAATTTTCATAACACTATATATGTTTTCACTGAAAAGAACCTGTTATTTAGGAATCTTCACAAAGAGTGAAGAGCATGACAAAAAGTACATAATAAGAGAATAGTGCAGGTTTTATACTCCTTATTTGCATTTAACTGTTTTA... | TTCCCAAATAGCGTCAATATAGCGATATATTAACTTTTCTTTTTAGCAAACATGACACTAAACGTCATATTCATTCATGAGAGAAGAGTTAAGCAAATTACAAATGGAATTTTCTCTTTTCTGCTGATTTACACTTTATTTTCTATGCATTTCTGGTCATTTCTATATGTGTATAGATAATTTTCATAACACTATATATGTTTTCACTGAAAAGAACCTGTTATTTAGGAATCTTCACAAAGAGTGAAGAGCATGACAAAAAGTACATAATAAGAGAATAGTGCAGGTTTTATACTCCTTATTTGCATTTAACTGTTTTA... | pathogenic | 116,762 |
The chromosome 7, position 19116901 genetic variant in gene TWIST1: benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Saethre-Chotzen_syndrome', 'TWIST1-related_craniosynostosis'] | CCAAATAGCGTCAATATAGCGATATATTAACTTTTCTTTTTAGCAAACATGACACTAAACGTCATATTCATTCATGAGAGAAGAGTTAAGCAAATTACAAATGGAATTTTCTCTTTTCTGCTGATTTACACTTTATTTTCTATGCATTTCTGGTCATTTCTATATGTGTATAGATAATTTTCATAACACTATATATGTTTTCACTGAAAAGAACCTGTTATTTAGGAATCTTCACAAAGAGTGAAGAGCATGACAAAAAGTACATAATAAGAGAATAGTGCAGGTTTTATACTCCTTATTTGCATTTAACTGTTTTAACA... | CCAAATAGCGTCAATATAGCGATATATTAACTTTTCTTTTTAGCAAACATGACACTAAACGTCATATTCATTCATGAGAGAAGAGTTAAGCAAATTACAAATGGAATTTTCTCTTTTCTGCTGATTTACACTTTATTTTCTATGCATTTCTGGTCATTTCTATATGTGTATAGATAATTTTCATAACACTATATATGTTTTCACTGAAAAGAACCTGTTATTTAGGAATCTTCACAAAGAGTGAAGAGCATGACAAAAAGTACATAATAAGAGAATAGTGCAGGTTTTATACTCCTTATTTGCATTTAACTGTTTTAACA... | pathogenic | 116,763 |
Evaluate if the mutation on chromosome 7 at position 19116904 in TWIST1 (twist family bHLH transcription factor 1) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Saethre-Chotzen_syndrome', 'TWIST1-related_craniosynostosis'] | AATAGCGTCAATATAGCGATATATTAACTTTTCTTTTTAGCAAACATGACACTAAACGTCATATTCATTCATGAGAGAAGAGTTAAGCAAATTACAAATGGAATTTTCTCTTTTCTGCTGATTTACACTTTATTTTCTATGCATTTCTGGTCATTTCTATATGTGTATAGATAATTTTCATAACACTATATATGTTTTCACTGAAAAGAACCTGTTATTTAGGAATCTTCACAAAGAGTGAAGAGCATGACAAAAAGTACATAATAAGAGAATAGTGCAGGTTTTATACTCCTTATTTGCATTTAACTGTTTTAACAACT... | AATAGCGTCAATATAGCGATATATTAACTTTTCTTTTTAGCAAACATGACACTAAACGTCATATTCATTCATGAGAGAAGAGTTAAGCAAATTACAAATGGAATTTTCTCTTTTCTGCTGATTTACACTTTATTTTCTATGCATTTCTGGTCATTTCTATATGTGTATAGATAATTTTCATAACACTATATATGTTTTCACTGAAAAGAACCTGTTATTTAGGAATCTTCACAAAGAGTGAAGAGCATGACAAAAAGTACATAATAAGAGAATAGTGCAGGTTTTATACTCCTTATTTGCATTTAACTGTTTTAACAACT... | pathogenic | 116,765 |
Does the variant on chromosome 7 at location 19116905 affecting gene TWIST1 (twist family bHLH transcription factor 1) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Saethre-Chotzen_syndrome', 'TWIST1-related_craniosynostosis'] | ATAGCGTCAATATAGCGATATATTAACTTTTCTTTTTAGCAAACATGACACTAAACGTCATATTCATTCATGAGAGAAGAGTTAAGCAAATTACAAATGGAATTTTCTCTTTTCTGCTGATTTACACTTTATTTTCTATGCATTTCTGGTCATTTCTATATGTGTATAGATAATTTTCATAACACTATATATGTTTTCACTGAAAAGAACCTGTTATTTAGGAATCTTCACAAAGAGTGAAGAGCATGACAAAAAGTACATAATAAGAGAATAGTGCAGGTTTTATACTCCTTATTTGCATTTAACTGTTTTAACAACTA... | ATAGCGTCAATATAGCGATATATTAACTTTTCTTTTTAGCAAACATGACACTAAACGTCATATTCATTCATGAGAGAAGAGTTAAGCAAATTACAAATGGAATTTTCTCTTTTCTGCTGATTTACACTTTATTTTCTATGCATTTCTGGTCATTTCTATATGTGTATAGATAATTTTCATAACACTATATATGTTTTCACTGAAAAGAACCTGTTATTTAGGAATCTTCACAAAGAGTGAAGAGCATGACAAAAAGTACATAATAAGAGAATAGTGCAGGTTTTATACTCCTTATTTGCATTTAACTGTTTTAACAACTA... | pathogenic | 116,766 |
The mutation in gene TWIST1 (twist family bHLH transcription factor 1) at chromosome 7, position 19116916—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Saethre-Chotzen_syndrome', 'Sweeney-Cox_syndrome', 'TWIST1-related_craniosynostosis', 'TWIST1-related_disorder'] | ATAGCGATATATTAACTTTTCTTTTTAGCAAACATGACACTAAACGTCATATTCATTCATGAGAGAAGAGTTAAGCAAATTACAAATGGAATTTTCTCTTTTCTGCTGATTTACACTTTATTTTCTATGCATTTCTGGTCATTTCTATATGTGTATAGATAATTTTCATAACACTATATATGTTTTCACTGAAAAGAACCTGTTATTTAGGAATCTTCACAAAGAGTGAAGAGCATGACAAAAAGTACATAATAAGAGAATAGTGCAGGTTTTATACTCCTTATTTGCATTTAACTGTTTTAACAACTATCACCTCAAAA... | ATAGCGATATATTAACTTTTCTTTTTAGCAAACATGACACTAAACGTCATATTCATTCATGAGAGAAGAGTTAAGCAAATTACAAATGGAATTTTCTCTTTTCTGCTGATTTACACTTTATTTTCTATGCATTTCTGGTCATTTCTATATGTGTATAGATAATTTTCATAACACTATATATGTTTTCACTGAAAAGAACCTGTTATTTAGGAATCTTCACAAAGAGTGAAGAGCATGACAAAAAGTACATAATAAGAGAATAGTGCAGGTTTTATACTCCTTATTTGCATTTAACTGTTTTAACAACTATCACCTCAAAA... | pathogenic | 116,767 |
Variant at chromosome 7, position 19117013, gene TWIST1 (twist family bHLH transcription factor 1): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Inborn_genetic_diseases', 'Saethre-Chotzen_syndrome', 'TWIST1-related_craniosynostosis'] | CTTTTCTGCTGATTTACACTTTATTTTCTATGCATTTCTGGTCATTTCTATATGTGTATAGATAATTTTCATAACACTATATATGTTTTCACTGAAAAGAACCTGTTATTTAGGAATCTTCACAAAGAGTGAAGAGCATGACAAAAAGTACATAATAAGAGAATAGTGCAGGTTTTATACTCCTTATTTGCATTTAACTGTTTTAACAACTATCACCTCAAAATAAAAAGGAGGTGAATAGCAAATTTGTTAAGTTTTTGCTGTTTGGAGACAGTAAGAGATGAAGAGATGCTACTAAGCCCTCTGAATACCAAACTGGA... | CTTTTCTGCTGATTTACACTTTATTTTCTATGCATTTCTGGTCATTTCTATATGTGTATAGATAATTTTCATAACACTATATATGTTTTCACTGAAAAGAACCTGTTATTTAGGAATCTTCACAAAGAGTGAAGAGCATGACAAAAAGTACATAATAAGAGAATAGTGCAGGTTTTATACTCCTTATTTGCATTTAACTGTTTTAACAACTATCACCTCAAAATAAAAAGGAGGTGAATAGCAAATTTGTTAAGTTTTTGCTGTTTGGAGACAGTAAGAGATGAAGAGATGCTACTAAGCCCTCTGAATACCAAACTGGA... | pathogenic | 116,773 |
Regarding the variant at chromosome 7 and position 19117045, affecting gene TWIST1 (twist family bHLH transcription factor 1): benign or pathogenic? If pathogenic, what are the associated illness(es)? | benign | CATTTCTGGTCATTTCTATATGTGTATAGATAATTTTCATAACACTATATATGTTTTCACTGAAAAGAACCTGTTATTTAGGAATCTTCACAAAGAGTGAAGAGCATGACAAAAAGTACATAATAAGAGAATAGTGCAGGTTTTATACTCCTTATTTGCATTTAACTGTTTTAACAACTATCACCTCAAAATAAAAAGGAGGTGAATAGCAAATTTGTTAAGTTTTTGCTGTTTGGAGACAGTAAGAGATGAAGAGATGCTACTAAGCCCTCTGAATACCAAACTGGAATAATAATAAAGCTGTCTTTTAAAATAACATG... | CATTTCTGGTCATTTCTATATGTGTATAGATAATTTTCATAACACTATATATGTTTTCACTGAAAAGAACCTGTTATTTAGGAATCTTCACAAAGAGTGAAGAGCATGACAAAAAGTACATAATAAGAGAATAGTGCAGGTTTTATACTCCTTATTTGCATTTAACTGTTTTAACAACTATCACCTCAAAATAAAAAGGAGGTGAATAGCAAATTTGTTAAGTTTTTGCTGTTTGGAGACAGTAAGAGATGAAGAGATGCTACTAAGCCCTCTGAATACCAAACTGGAATAATAATAAAGCTGTCTTTTAAAATAACATG... | benign | 116,775 |
Clinical significance of chromosome 7, position 19117047, gene TWIST1 (twist family bHLH transcription factor 1): benign or pathogenic? Name the disease(s) if pathogenic. | benign | TTTCTGGTCATTTCTATATGTGTATAGATAATTTTCATAACACTATATATGTTTTCACTGAAAAGAACCTGTTATTTAGGAATCTTCACAAAGAGTGAAGAGCATGACAAAAAGTACATAATAAGAGAATAGTGCAGGTTTTATACTCCTTATTTGCATTTAACTGTTTTAACAACTATCACCTCAAAATAAAAAGGAGGTGAATAGCAAATTTGTTAAGTTTTTGCTGTTTGGAGACAGTAAGAGATGAAGAGATGCTACTAAGCCCTCTGAATACCAAACTGGAATAATAATAAAGCTGTCTTTTAAAATAACATGCT... | TTTCTGGTCATTTCTATATGTGTATAGATAATTTTCATAACACTATATATGTTTTCACTGAAAAGAACCTGTTATTTAGGAATCTTCACAAAGAGTGAAGAGCATGACAAAAAGTACATAATAAGAGAATAGTGCAGGTTTTATACTCCTTATTTGCATTTAACTGTTTTAACAACTATCACCTCAAAATAAAAAGGAGGTGAATAGCAAATTTGTTAAGTTTTTGCTGTTTGGAGACAGTAAGAGATGAAGAGATGCTACTAAGCCCTCTGAATACCAAACTGGAATAATAATAAAGCTGTCTTTTAAAATAACATGCT... | benign | 116,776 |
Gene mutation in TWIST1 (twist family bHLH transcription factor 1) at chromosome 7, position 19117145—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Saethre-Chotzen_syndrome', 'TWIST1-related_craniosynostosis'] | AGAGCATGACAAAAAGTACATAATAAGAGAATAGTGCAGGTTTTATACTCCTTATTTGCATTTAACTGTTTTAACAACTATCACCTCAAAATAAAAAGGAGGTGAATAGCAAATTTGTTAAGTTTTTGCTGTTTGGAGACAGTAAGAGATGAAGAGATGCTACTAAGCCCTCTGAATACCAAACTGGAATAATAATAAAGCTGTCTTTTAAAATAACATGCTTGTGCCTGTCAGTAGCTGCTTTATTTGAGTTTTTCATTGCTTTGTTTATATTAGTGCCCCCTCCCTCCTGGGTGCCTCTAGAATTAAACAAGCAGGTA... | AGAGCATGACAAAAAGTACATAATAAGAGAATAGTGCAGGTTTTATACTCCTTATTTGCATTTAACTGTTTTAACAACTATCACCTCAAAATAAAAAGGAGGTGAATAGCAAATTTGTTAAGTTTTTGCTGTTTGGAGACAGTAAGAGATGAAGAGATGCTACTAAGCCCTCTGAATACCAAACTGGAATAATAATAAAGCTGTCTTTTAAAATAACATGCTTGTGCCTGTCAGTAGCTGCTTTATTTGAGTTTTTCATTGCTTTGTTTATATTAGTGCCCCCTCCCTCCTGGGTGCCTCTAGAATTAAACAAGCAGGTA... | pathogenic | 116,780 |
Considering the variant on chromosome 7, location 19117179, involving gene TWIST1 (twist family bHLH transcription factor 1), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Saethre-Chotzen_syndrome', 'TWIST1-related_craniosynostosis'] | TGCAGGTTTTATACTCCTTATTTGCATTTAACTGTTTTAACAACTATCACCTCAAAATAAAAAGGAGGTGAATAGCAAATTTGTTAAGTTTTTGCTGTTTGGAGACAGTAAGAGATGAAGAGATGCTACTAAGCCCTCTGAATACCAAACTGGAATAATAATAAAGCTGTCTTTTAAAATAACATGCTTGTGCCTGTCAGTAGCTGCTTTATTTGAGTTTTTCATTGCTTTGTTTATATTAGTGCCCCCTCCCTCCTGGGTGCCTCTAGAATTAAACAAGCAGGTATTTACCACCAACTTAATCTTTAGTTTTAAAAATA... | TGCAGGTTTTATACTCCTTATTTGCATTTAACTGTTTTAACAACTATCACCTCAAAATAAAAAGGAGGTGAATAGCAAATTTGTTAAGTTTTTGCTGTTTGGAGACAGTAAGAGATGAAGAGATGCTACTAAGCCCTCTGAATACCAAACTGGAATAATAATAAAGCTGTCTTTTAAAATAACATGCTTGTGCCTGTCAGTAGCTGCTTTATTTGAGTTTTTCATTGCTTTGTTTATATTAGTGCCCCCTCCCTCCTGGGTGCCTCTAGAATTAAACAAGCAGGTATTTACCACCAACTTAATCTTTAGTTTTAAAAATA... | pathogenic | 116,781 |
Chromosome 7, position 21543345, gene DNAH11 (dynein axonemal heavy chain 11): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | benign | TTGGGAACAAGGTAAAGCCATGTTCATTCACTGTCACATTGAAACACTGCTTCACCGGCCAATGAAAGGATTATTAATTATTTAGGGAAAAGTATCTTTTTTGGACTCATTAACTACTACTGATCGAAGTCTCAAACTCTGAAGTTACGTTTTTATTTACAGATTTTTGTTCAATACAGATGTAATTTATTTTGGAAAAACAAATTATTTTTTAAAAAACAAAGGATTATTTTGCCCTGTATGACATTAGTGAGTGTTGTTTTGAACCTAGCAAGCTGACTCATCCTGTCTTCCTCCAATGCTGCTAAATTTCTTTCTCG... | TTGGGAACAAGGTAAAGCCATGTTCATTCACTGTCACATTGAAACACTGCTTCACCGGCCAATGAAAGGATTATTAATTATTTAGGGAAAAGTATCTTTTTTGGACTCATTAACTACTACTGATCGAAGTCTCAAACTCTGAAGTTACGTTTTTATTTACAGATTTTTGTTCAATACAGATGTAATTTATTTTGGAAAAACAAATTATTTTTTAAAAAACAAAGGATTATTTTGCCCTGTATGACATTAGTGAGTGTTGTTTTGAACCTAGCAAGCTGACTCATCCTGTCTTCCTCCAATGCTGCTAAATTTCTTTCTCG... | benign | 116,792 |
Assess the variant on chromosome 7, position 21559703, impacting DNAH11 (dynein axonemal heavy chain 11): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Primary_ciliary_dyskinesia', 'Primary_ciliary_dyskinesia_7'] | GACACATATTCACACCATAACACCTGCCTTGCCCTGTTCTTTCATCTTAAAGATTCAAACCAAGTAACAACTTTTCTGGCAAGTCTTTCTTAATACCATTCTCTCCCAGAGGCAGATATTTCTCCCGTGTTTTCATATGCATCCTGGACATACCTCTAATCATGGCAGTTCTTATCTTGACTGTCATAGTTCCAGGATCTCACCTACTGAGCTCACTGAGGGCAGGGACTATCTTGTACTAATCTCTGTATTACTAGCTTGACATGTAATGGGTGCTAAGTAGGAAAAGGTAATAATAATATTTGGAGACATTTGTTTGA... | GACACATATTCACACCATAACACCTGCCTTGCCCTGTTCTTTCATCTTAAAGATTCAAACCAAGTAACAACTTTTCTGGCAAGTCTTTCTTAATACCATTCTCTCCCAGAGGCAGATATTTCTCCCGTGTTTTCATATGCATCCTGGACATACCTCTAATCATGGCAGTTCTTATCTTGACTGTCATAGTTCCAGGATCTCACCTACTGAGCTCACTGAGGGCAGGGACTATCTTGTACTAATCTCTGTATTACTAGCTTGACATGTAATGGGTGCTAAGTAGGAAAAGGTAATAATAATATTTGGAGACATTTGTTTGA... | pathogenic | 116,813 |
Variant on chromosome 7, at position 21559766, affecting DNAH11 (dynein axonemal heavy chain 11): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Primary_ciliary_dyskinesia', 'Primary_ciliary_dyskinesia_7'] | GTAACAACTTTTCTGGCAAGTCTTTCTTAATACCATTCTCTCCCAGAGGCAGATATTTCTCCCGTGTTTTCATATGCATCCTGGACATACCTCTAATCATGGCAGTTCTTATCTTGACTGTCATAGTTCCAGGATCTCACCTACTGAGCTCACTGAGGGCAGGGACTATCTTGTACTAATCTCTGTATTACTAGCTTGACATGTAATGGGTGCTAAGTAGGAAAAGGTAATAATAATATTTGGAGACATTTGTTTGAACACCATTCAAAAATGAAAGTGAATTTTCAGCTTTTTGTTTAACTAGAAGATTGTATTGTCAA... | GTAACAACTTTTCTGGCAAGTCTTTCTTAATACCATTCTCTCCCAGAGGCAGATATTTCTCCCGTGTTTTCATATGCATCCTGGACATACCTCTAATCATGGCAGTTCTTATCTTGACTGTCATAGTTCCAGGATCTCACCTACTGAGCTCACTGAGGGCAGGGACTATCTTGTACTAATCTCTGTATTACTAGCTTGACATGTAATGGGTGCTAAGTAGGAAAAGGTAATAATAATATTTGGAGACATTTGTTTGAACACCATTCAAAAATGAAAGTGAATTTTCAGCTTTTTGTTTAACTAGAAGATTGTATTGTCAA... | pathogenic | 116,814 |
The chromosome 7, position 21561111 genetic variant in gene DNAH11 (dynein axonemal heavy chain 11): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Primary_ciliary_dyskinesia', 'Primary_ciliary_dyskinesia_7'] | GCCTATAATCCCAGCAATTTGGAGGCTGAGGTGGGAGGGTTGCTTGATCCCAGGAGTTCAAGACTAGCCTGGGCAGCATAGTGAGATCTCATCTCCACAAATAAAATAAAATGGAAAGTGAGCATACCCATTTAATATCACACCTCTAGCAAACCCATTAGCAAACAGAGAATTACAGCTACATCATATTTTTAAAATAAGTGCAGAAACACCATGTGAATTATTTCCTTTTAAAGTATGCTTTTAAAAAGCAAATTATACAAAAAGCAAACTGTAGTAATTGCCATGCCAGTAACATTATTCCTTTAGTAAAATAGTTT... | GCCTATAATCCCAGCAATTTGGAGGCTGAGGTGGGAGGGTTGCTTGATCCCAGGAGTTCAAGACTAGCCTGGGCAGCATAGTGAGATCTCATCTCCACAAATAAAATAAAATGGAAAGTGAGCATACCCATTTAATATCACACCTCTAGCAAACCCATTAGCAAACAGAGAATTACAGCTACATCATATTTTTAAAATAAGTGCAGAAACACCATGTGAATTATTTCCTTTTAAAGTATGCTTTTAAAAAGCAAATTATACAAAAAGCAAACTGTAGTAATTGCCATGCCAGTAACATTATTCCTTTAGTAAAATAGTTT... | pathogenic | 116,818 |
Variant chromosome 7, position 21561149, gene DNAH11 (dynein axonemal heavy chain 11): benign or pathogenic? Disease(s)? | pathogenic; ['Primary_ciliary_dyskinesia'] | GTTGCTTGATCCCAGGAGTTCAAGACTAGCCTGGGCAGCATAGTGAGATCTCATCTCCACAAATAAAATAAAATGGAAAGTGAGCATACCCATTTAATATCACACCTCTAGCAAACCCATTAGCAAACAGAGAATTACAGCTACATCATATTTTTAAAATAAGTGCAGAAACACCATGTGAATTATTTCCTTTTAAAGTATGCTTTTAAAAAGCAAATTATACAAAAAGCAAACTGTAGTAATTGCCATGCCAGTAACATTATTCCTTTAGTAAAATAGTTTTTGAGGATATAATTCTTTAACAGTGTTTTTTGAGGTTA... | GTTGCTTGATCCCAGGAGTTCAAGACTAGCCTGGGCAGCATAGTGAGATCTCATCTCCACAAATAAAATAAAATGGAAAGTGAGCATACCCATTTAATATCACACCTCTAGCAAACCCATTAGCAAACAGAGAATTACAGCTACATCATATTTTTAAAATAAGTGCAGAAACACCATGTGAATTATTTCCTTTTAAAGTATGCTTTTAAAAAGCAAATTATACAAAAAGCAAACTGTAGTAATTGCCATGCCAGTAACATTATTCCTTTAGTAAAATAGTTTTTGAGGATATAATTCTTTAACAGTGTTTTTTGAGGTTA... | pathogenic | 116,820 |
Considering the variant on chromosome 7, location 21581941, involving gene DNAH11 (dynein axonemal heavy chain 11), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Primary_ciliary_dyskinesia', 'Primary_ciliary_dyskinesia_7'] | TTGGACCAAGGGCATCCTGGAGATGGAGGATAGTAGAGAGACTCCAGAGGTAGTTAGAAGAGCACTTGACAGAGAAGTCAAGGAGGTTGCCCAAGTTTCTATTAGGGTGTATAAAAAGAAGAGCAGCTTTGTAGAGAAGATAACAAGTTCAGATTTGTACTTGAACAAATTAGGTATGAATTTTTTGTGGGACTTTCCAAGGGAGAGGTCCCACGTGCAGTTCTAAATTTGTTTTCAGGAATGAGTGAGTGAGAAGGGAGGGAGGTGACAGATATCAGGGAGGGAGACTAGCATATTTTTCTCTCCCTGAGATGTTTATT... | TTGGACCAAGGGCATCCTGGAGATGGAGGATAGTAGAGAGACTCCAGAGGTAGTTAGAAGAGCACTTGACAGAGAAGTCAAGGAGGTTGCCCAAGTTTCTATTAGGGTGTATAAAAAGAAGAGCAGCTTTGTAGAGAAGATAACAAGTTCAGATTTGTACTTGAACAAATTAGGTATGAATTTTTTGTGGGACTTTCCAAGGGAGAGGTCCCACGTGCAGTTCTAAATTTGTTTTCAGGAATGAGTGAGTGAGAAGGGAGGGAGGTGACAGATATCAGGGAGGGAGACTAGCATATTTTTCTCTCCCTGAGATGTTTATT... | pathogenic | 116,837 |
The chromosome 7, position 21600049 genetic variant in gene DNAH11: benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Primary_ciliary_dyskinesia'] | AGTTCTTAAATTTTTTTGAGAGCTAGGGTTCTCTCATCTCTCCCCTGCCTTATTAGGATCTGTACTTACCTCTCTAGTTCTGATTCTTGCTTACAACATAACACCTTTGCATCCTGGATCATATATCCATAGTAAAGAATAATCAAAGAAAACAGAGAGTATAGTCCACCTTACAATCAGCTCTTATTCCAGTGTCACCTTATAATCAGCTCTTATTCCAATGTCTCTTTTGCTCTGTGCTTCAGTTCCTCCCTTGGGTATCTGCCGTCTGGTCTGTATAGACCATGCAAGTTTAGCCACTCAGCCTCTCTAGAATCAAC... | AGTTCTTAAATTTTTTTGAGAGCTAGGGTTCTCTCATCTCTCCCCTGCCTTATTAGGATCTGTACTTACCTCTCTAGTTCTGATTCTTGCTTACAACATAACACCTTTGCATCCTGGATCATATATCCATAGTAAAGAATAATCAAAGAAAACAGAGAGTATAGTCCACCTTACAATCAGCTCTTATTCCAGTGTCACCTTATAATCAGCTCTTATTCCAATGTCTCTTTTGCTCTGTGCTTCAGTTCCTCCCTTGGGTATCTGCCGTCTGGTCTGTATAGACCATGCAAGTTTAGCCACTCAGCCTCTCTAGAATCAAC... | pathogenic | 116,868 |
For chromosome 7, position 21601562, gene DNAH11 (dynein axonemal heavy chain 11): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Primary_ciliary_dyskinesia', 'Primary_ciliary_dyskinesia_7'] | GTGTATTTCCTGTCTGTATCTGAAGATAGCAATCTTTGTAGAGAACTTTCCTTGAAACAACTTTTGAATGTATTTCATGTGTGAACTTAATGTTCTAAATTCCTGCTTAGATCTTTGACATCTAGCTTAAGGTTCTGCAACTTAGTATTTGAATGTTCCTGTCTTGTGCACAACAATGCAGTCTCTTCTTTTACAAACTATTTAAACGGAGAGTTTTAGTTTTTATGCTAATTATTTGTTTATATTCATCCACTAATACTTGTCTGTTTCTAGGAAAATAGGAAGCTCTTCAAAGCCAATCCCTCTCTGGATACCTGGAA... | GTGTATTTCCTGTCTGTATCTGAAGATAGCAATCTTTGTAGAGAACTTTCCTTGAAACAACTTTTGAATGTATTTCATGTGTGAACTTAATGTTCTAAATTCCTGCTTAGATCTTTGACATCTAGCTTAAGGTTCTGCAACTTAGTATTTGAATGTTCCTGTCTTGTGCACAACAATGCAGTCTCTTCTTTTACAAACTATTTAAACGGAGAGTTTTAGTTTTTATGCTAATTATTTGTTTATATTCATCCACTAATACTTGTCTGTTTCTAGGAAAATAGGAAGCTCTTCAAAGCCAATCCCTCTCTGGATACCTGGAA... | pathogenic | 116,889 |
A genetic alteration at chromosome 7, position 21606664, in gene DNAH11 (dynein axonemal heavy chain 11)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Primary_ciliary_dyskinesia', 'Primary_ciliary_dyskinesia_7'] | CTTGAGTGGATCATCTGACTTTGAGAGGCTTTGGAGATCATCTGATCTTTTGGGTTTCAAGAAAATTTATTTTTACCAAGTAAAAACTTGTTTGGAATCCCCAAATATAAAGCAGGTTTGTTGTGTTTGAAGAGGGATAAGGGGACCTGAGCTCATGGATGTAACTTCCTCCTGGCTTCCCAGCCATGGCCTCCGAGGGACTCCATGGAATACTTAGGTTCCATGGAATGGAATTGGAAATGCAAAGTGAGACTCTGTCTGTACAGAGGGCGGATGCAGAGTTTTGATGAGAAGCCACGAGAGGGAAGGACAAAGGGGTT... | CTTGAGTGGATCATCTGACTTTGAGAGGCTTTGGAGATCATCTGATCTTTTGGGTTTCAAGAAAATTTATTTTTACCAAGTAAAAACTTGTTTGGAATCCCCAAATATAAAGCAGGTTTGTTGTGTTTGAAGAGGGATAAGGGGACCTGAGCTCATGGATGTAACTTCCTCCTGGCTTCCCAGCCATGGCCTCCGAGGGACTCCATGGAATACTTAGGTTCCATGGAATGGAATTGGAAATGCAAAGTGAGACTCTGTCTGTACAGAGGGCGGATGCAGAGTTTTGATGAGAAGCCACGAGAGGGAAGGACAAAGGGGTT... | pathogenic | 116,896 |
Is the variant located on chromosome 7 at position 21615170, gene DNAH11 (dynein axonemal heavy chain 11), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Primary_ciliary_dyskinesia', 'Primary_ciliary_dyskinesia_7'] | TGTATTCATATAATGTAGTACTATGCAGTAGGGGAAATGAACTTCACACACATCATCATGAATATATAGGTGGACATAAATATCAATTGAAATGTGATATATGTAGTAAACTGCATTTCACAAACATAAATTTTAACATTTAGCGCTTAGCAATACATTAATGTGAAAATATTATAAAAATTAGATTATTAAATAAAAAGGTAGGTTTTGTGGTTAAATATGTAGTAGGGAAAAGAGGGATGAAATTAAGAAAAGGCATTAAAAATTATTAGTCATATTTCTTAGGCTAGGTGGGGAACAAACGCATATATCCTTTTATG... | TGTATTCATATAATGTAGTACTATGCAGTAGGGGAAATGAACTTCACACACATCATCATGAATATATAGGTGGACATAAATATCAATTGAAATGTGATATATGTAGTAAACTGCATTTCACAAACATAAATTTTAACATTTAGCGCTTAGCAATACATTAATGTGAAAATATTATAAAAATTAGATTATTAAATAAAAAGGTAGGTTTTGTGGTTAAATATGTAGTAGGGAAAAGAGGGATGAAATTAAGAAAAGGCATTAAAAATTATTAGTCATATTTCTTAGGCTAGGTGGGGAACAAACGCATATATCCTTTTATG... | pathogenic | 116,902 |
Is the variant located on chromosome 7 at position 21619081, gene DNAH11 (dynein axonemal heavy chain 11), benign or pathogenic? If pathogenic, specify the disease(s) linked. | benign | TGTCATGGGGTCACATTGTCCTTTATTTCGTGCTAAGTTCTAGTTGTTTTCTTATGGGTTTTCTCATTCACAATTGCTGATGTTTTTCCTTGGGCTGAGAGGACCAGCCAAGTCAAAGGACCTATTTGGCATTTTAAGATGATGAAATATTTAGGTTTCAAGAAACAGGCACTCAAAGGTAATCAACATTCCAAGGCTGTTGTTTAAATGAGTCATGTATTCCGAAGGAGGTCTTAGTAATCTGATAACAGTCTGTTTCCATTTACTTATGTTTATAGAAGAAACATTCTTCATTGCACGTGTCCTGTGAACTCTGTTAC... | TGTCATGGGGTCACATTGTCCTTTATTTCGTGCTAAGTTCTAGTTGTTTTCTTATGGGTTTTCTCATTCACAATTGCTGATGTTTTTCCTTGGGCTGAGAGGACCAGCCAAGTCAAAGGACCTATTTGGCATTTTAAGATGATGAAATATTTAGGTTTCAAGAAACAGGCACTCAAAGGTAATCAACATTCCAAGGCTGTTGTTTAAATGAGTCATGTATTCCGAAGGAGGTCTTAGTAATCTGATAACAGTCTGTTTCCATTTACTTATGTTTATAGAAGAAACATTCTTCATTGCACGTGTCCTGTGAACTCTGTTAC... | benign | 116,916 |
Determine whether the variant at chromosome 7, position 21619936, in gene DNAH11 (dynein axonemal heavy chain 11) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | benign | AGCCTCTACTTGCTGTGTTATGCCTTTTTGCTGTCTAGAAAAAGTCGCCTGATCCGACCAACAATTTAGAAAAAGGCACCCTCCTCCAGGCTGTCCCCAGGACAGCAGAGCGGAGGCTGGCTTCCATCTCCATTTGTCATCTGGGCTGGTGTCCACGTTCAGTACACAGATTGCACAACTAATCAGGGTGGCCCTATTACTCATCTCTCCTCATTCTTTCTCAAGGACAGACCTAGCTCCCTGGCTCCCAGCAACTCTGGAGTGAGGCCAAAGTTGACACAGAGATAGTCTGGCAAACTCATCTAGCTTTCTCAGGACTT... | AGCCTCTACTTGCTGTGTTATGCCTTTTTGCTGTCTAGAAAAAGTCGCCTGATCCGACCAACAATTTAGAAAAAGGCACCCTCCTCCAGGCTGTCCCCAGGACAGCAGAGCGGAGGCTGGCTTCCATCTCCATTTGTCATCTGGGCTGGTGTCCACGTTCAGTACACAGATTGCACAACTAATCAGGGTGGCCCTATTACTCATCTCTCCTCATTCTTTCTCAAGGACAGACCTAGCTCCCTGGCTCCCAGCAACTCTGGAGTGAGGCCAAAGTTGACACAGAGATAGTCTGGCAAACTCATCTAGCTTTCTCAGGACTT... | benign | 116,924 |
Does the chromosome 7 mutation at position 21619968 within gene DNAH11 (dynein axonemal heavy chain 11) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['DNAH11-related_disorder', 'Primary_ciliary_dyskinesia', 'Primary_ciliary_dyskinesia_7'] | GTCTAGAAAAAGTCGCCTGATCCGACCAACAATTTAGAAAAAGGCACCCTCCTCCAGGCTGTCCCCAGGACAGCAGAGCGGAGGCTGGCTTCCATCTCCATTTGTCATCTGGGCTGGTGTCCACGTTCAGTACACAGATTGCACAACTAATCAGGGTGGCCCTATTACTCATCTCTCCTCATTCTTTCTCAAGGACAGACCTAGCTCCCTGGCTCCCAGCAACTCTGGAGTGAGGCCAAAGTTGACACAGAGATAGTCTGGCAAACTCATCTAGCTTTCTCAGGACTTTCCAGATTTTAGCACTGAAAGTATCACATCCC... | GTCTAGAAAAAGTCGCCTGATCCGACCAACAATTTAGAAAAAGGCACCCTCCTCCAGGCTGTCCCCAGGACAGCAGAGCGGAGGCTGGCTTCCATCTCCATTTGTCATCTGGGCTGGTGTCCACGTTCAGTACACAGATTGCACAACTAATCAGGGTGGCCCTATTACTCATCTCTCCTCATTCTTTCTCAAGGACAGACCTAGCTCCCTGGCTCCCAGCAACTCTGGAGTGAGGCCAAAGTTGACACAGAGATAGTCTGGCAAACTCATCTAGCTTTCTCAGGACTTTCCAGATTTTAGCACTGAAAGTATCACATCCC... | pathogenic | 116,925 |
Considering the genetic mutation at chromosome 7, position 21637702, impacting DNAH11 (dynein axonemal heavy chain 11): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Primary_ciliary_dyskinesia', 'Primary_ciliary_dyskinesia_7'] | ATCTTTTTTTCTTTTTGGAAAAATGTTAATATAAATATTTACTACCATTAATTCACTCATTCACTCATTTAGCAAAAACTTATTAAATGCCAGTTCCAGATATTACATGCTAGGTCTAAGAATCCAGCAATAAACAGAGTAGATATAGTGCCTCCCTCATAGCACTCACATTCTACTAAATTTAGCTACTATTTAAAATTCTTTGCCTTTATTTTAGGTTCAGTTGCAGACTCTTCTTCAAAGCAAGTATGTAGAATATTTCATTGAGCAAGTGTTAAGCTGGCAAAATAAATTAAACATAGCAGACTTGGTCATCTTCA... | ATCTTTTTTTCTTTTTGGAAAAATGTTAATATAAATATTTACTACCATTAATTCACTCATTCACTCATTTAGCAAAAACTTATTAAATGCCAGTTCCAGATATTACATGCTAGGTCTAAGAATCCAGCAATAAACAGAGTAGATATAGTGCCTCCCTCATAGCACTCACATTCTACTAAATTTAGCTACTATTTAAAATTCTTTGCCTTTATTTTAGGTTCAGTTGCAGACTCTTCTTCAAAGCAAGTATGTAGAATATTTCATTGAGCAAGTGTTAAGCTGGCAAAATAAATTAAACATAGCAGACTTGGTCATCTTCA... | pathogenic | 116,944 |
A genetic variant on chromosome 7, position 21687174, affects the gene DNAH11 (dynein axonemal heavy chain 11). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Primary_ciliary_dyskinesia', 'Primary_ciliary_dyskinesia_7'] | TTCTAACTTGTCTCTGATTAAAAGTCAGCATTCACTGTCCTCATTAGTTAATTTATGCATTGCTTTCAGTGAGAGGGATTAAAATTGTAGCTTGATGAAGTCACTTGAGAATAGTCAAAACTGCAAATGTGAAGAGTCTACCGTACGCATGCCATTGTCAATAGAGAAGGAGGAAAGGGAGGCCCAGGGTATAGGAGAAAAAGGGAAGAGGCATTTTAAAGTTTATCATTATGTGAGGCCTGATAGTTTATTAACTTTGAAATTAGAAGAATCACCATGTGGGTTTTTTGGGAGCTGAAAGGAAGATGAAAGTTCATTTT... | TTCTAACTTGTCTCTGATTAAAAGTCAGCATTCACTGTCCTCATTAGTTAATTTATGCATTGCTTTCAGTGAGAGGGATTAAAATTGTAGCTTGATGAAGTCACTTGAGAATAGTCAAAACTGCAAATGTGAAGAGTCTACCGTACGCATGCCATTGTCAATAGAGAAGGAGGAAAGGGAGGCCCAGGGTATAGGAGAAAAAGGGAAGAGGCATTTTAAAGTTTATCATTATGTGAGGCCTGATAGTTTATTAACTTTGAAATTAGAAGAATCACCATGTGGGTTTTTTGGGAGCTGAAAGGAAGATGAAAGTTCATTTT... | pathogenic | 116,982 |
Is the genetic variant on chromosome 7, position 21690802, gene DNAH11 (dynein axonemal heavy chain 11), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Primary_ciliary_dyskinesia', 'Primary_ciliary_dyskinesia_7'] | AAATGCTTCTCAACACAATGCCACATTCCAAAAAGCAAAACACAGCTGGCACTTACGTTTGATGGCTTAATTTGAGAAATAAATTAGTATAGTATGCAGCACAATTCTGGTTCTCTTTGTAACATTTTTATCAACAGGGCAATCTTATTTATCTGGCCCACCTGTGCCCCCTTAGTTTTTAGAATATTTTTCTCAGCTAGCTTGTCCATAGGAACATTTTCAATGTCCCAAGGATTATCTAGCCTCTTGGACTGTTTACCTGTTGTAGAAGTTTCCAGGTTATCAGGAGATACATCTGGATATTTCTACATTCTAGAAAA... | AAATGCTTCTCAACACAATGCCACATTCCAAAAAGCAAAACACAGCTGGCACTTACGTTTGATGGCTTAATTTGAGAAATAAATTAGTATAGTATGCAGCACAATTCTGGTTCTCTTTGTAACATTTTTATCAACAGGGCAATCTTATTTATCTGGCCCACCTGTGCCCCCTTAGTTTTTAGAATATTTTTCTCAGCTAGCTTGTCCATAGGAACATTTTCAATGTCCCAAGGATTATCTAGCCTCTTGGACTGTTTACCTGTTGTAGAAGTTTCCAGGTTATCAGGAGATACATCTGGATATTTCTACATTCTAGAAAA... | pathogenic | 116,989 |
Variant at chromosome 7, position 21720728, gene DNAH11 (dynein axonemal heavy chain 11): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['DNAH11-related_disorder', 'Primary_ciliary_dyskinesia', 'Primary_ciliary_dyskinesia_7'] | CTTAGAAGTAGAAGACTTCATGAAAAGGTTTACAATTAGAAACCCCCACACCCTTTTTTTGCTATAAGAGCAAAATTGCTTTCTAAGTACTTTGTTACCATTAAGTGAGTGTGTTACCAAATTTGTTTGACGCAAAATTAGAAATAGTCACAAGCATAATAAGAAGAGAAAGTTCAGGTTTTTGGATAATTCGCACACCAATTAAATAAACGATAGTCTTCAACAGTAATTATCTGAGGTATAATTTATTTCCGAAAGCAGGTCTGAATTTGTTCATTATGAATTAATTATGTAGTTAGCCTAATTAGACTCCCTCTGGT... | CTTAGAAGTAGAAGACTTCATGAAAAGGTTTACAATTAGAAACCCCCACACCCTTTTTTTGCTATAAGAGCAAAATTGCTTTCTAAGTACTTTGTTACCATTAAGTGAGTGTGTTACCAAATTTGTTTGACGCAAAATTAGAAATAGTCACAAGCATAATAAGAAGAGAAAGTTCAGGTTTTTGGATAATTCGCACACCAATTAAATAAACGATAGTCTTCAACAGTAATTATCTGAGGTATAATTTATTTCCGAAAGCAGGTCTGAATTTGTTCATTATGAATTAATTATGTAGTTAGCCTAATTAGACTCCCTCTGGT... | pathogenic | 117,027 |
Is the variant located on chromosome 7 at position 21735706, gene DNAH11 (dynein axonemal heavy chain 11), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Primary_ciliary_dyskinesia_7'] | CAGTTGTACCAAATGTGATTATTTAATTAACAGCATCTTAATATAGTAGAAGAGAACCATAGAAAGTCAATAATAATAGCAAATACAATATTATGCCATTATATGTCAGGCCCTTTACTGAGTGCTGTACGTAATGCAATCCTTACATCAACCTTCTAAGGCAGGGACTGTCGCTAGCCTTTTTTATATATATATACGGAGAAACAGGCACAAAAAGAAGAAATATATCCACAGCTATATGGGTAGTAAGTATAGGATGACCAACAGTTCTAGTTTGACTGGAATTAAAGGAGTTTTGGGAACATTGGACTTTGAATTTT... | CAGTTGTACCAAATGTGATTATTTAATTAACAGCATCTTAATATAGTAGAAGAGAACCATAGAAAGTCAATAATAATAGCAAATACAATATTATGCCATTATATGTCAGGCCCTTTACTGAGTGCTGTACGTAATGCAATCCTTACATCAACCTTCTAAGGCAGGGACTGTCGCTAGCCTTTTTTATATATATATACGGAGAAACAGGCACAAAAAGAAGAAATATATCCACAGCTATATGGGTAGTAAGTATAGGATGACCAACAGTTCTAGTTTGACTGGAATTAAAGGAGTTTTGGGAACATTGGACTTTGAATTTT... | pathogenic | 117,041 |
Determine if the mutation at chromosome 7, position 21739583 in gene DNAH11 (dynein axonemal heavy chain 11) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['DNAH11-related_disorder', 'Primary_ciliary_dyskinesia'] | GAGAGATCTGAGTTGGGGAGATCAGTCCCCCTGAGTAGTATAAGAGCTATATGTAATGTGACCCTGGACCAGAATTGTAGAAAAGGAGGTGGCAAGTTGGGAACATATGGAAATGACATGAAGTACCATTTATAGGCTGTGGTTGGACAAACATGGGACCAGGAGAGAGAGACTACTGGAGGCTTTGCATCTGCCTGACTGGGCATGTTAACCCCCTAAGCAGGACCACAAAGGCAAAAGGAAAGAGGTGAATTGCGAGTGAGGGAGAGATGATGTTAAGCTGAGTTGGAAAAGAGGCAGATTTAGTGTTGGCTGAACGT... | GAGAGATCTGAGTTGGGGAGATCAGTCCCCCTGAGTAGTATAAGAGCTATATGTAATGTGACCCTGGACCAGAATTGTAGAAAAGGAGGTGGCAAGTTGGGAACATATGGAAATGACATGAAGTACCATTTATAGGCTGTGGTTGGACAAACATGGGACCAGGAGAGAGAGACTACTGGAGGCTTTGCATCTGCCTGACTGGGCATGTTAACCCCCTAAGCAGGACCACAAAGGCAAAAGGAAAGAGGTGAATTGCGAGTGAGGGAGAGATGATGTTAAGCTGAGTTGGAAAAGAGGCAGATTTAGTGTTGGCTGAACGT... | pathogenic | 117,055 |
Gene DNAH11 (dynein axonemal heavy chain 11) variant at chromosome position 21742087 on chromosome 7: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Primary_ciliary_dyskinesia'] | TATTATACGTTCCAGGGGCTTTTGACAGACATATAATGACAAGTATCAGCTGTTAACAGTATCATATAGAATAGTGTCACTGCCCCAAAATCTCTGTACTCTACCAATTCATTCCTCTCTCTTTTCCCTCTGAGTCCCTGGTAACAATTGATCTTTTGTCTTTTCTTTTCTATTATTATTGTTGTAAAATACATGTTACAAAATTTACCACATTAACCATTTCAAGTGTACAGTTCAGTAATATTAACTACATATGTAATGTTGGGCAGCCAAGATCACCACCCATCTCCATAACTCTTTTCATCTTGTGAAACTGAAAC... | TATTATACGTTCCAGGGGCTTTTGACAGACATATAATGACAAGTATCAGCTGTTAACAGTATCATATAGAATAGTGTCACTGCCCCAAAATCTCTGTACTCTACCAATTCATTCCTCTCTCTTTTCCCTCTGAGTCCCTGGTAACAATTGATCTTTTGTCTTTTCTTTTCTATTATTATTGTTGTAAAATACATGTTACAAAATTTACCACATTAACCATTTCAAGTGTACAGTTCAGTAATATTAACTACATATGTAATGTTGGGCAGCCAAGATCACCACCCATCTCCATAACTCTTTTCATCTTGTGAAACTGAAAC... | pathogenic | 117,064 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 7, position 21765609, gene DNAH11 (dynein axonemal heavy chain 11). What disease(s) is it linked to if pathogenic? | benign | TAAAATGCTGCAACTACTATGGAAAACAGTATGGTCGTTCCTCAAAAAATTGAAAACAGAATTGCCATAAGATCCAGCAATCCCTCTTCTAGGTATATAGCCAAGGACATTGAAACCAGGATCTTGAAGAGATATCTACACTTTCATGTTCACTGCAGCGTTATTCACGATAGCTGAGATATGCAAGCAACTAAAATGTCCATCAACAGGCAACTAGATAATGTGCTATATATACATATACATATACATATACATATATATACATATATATATATACACACACAATGGAATATTTTCATCTATAAAACAAAATCCTGTCA... | TAAAATGCTGCAACTACTATGGAAAACAGTATGGTCGTTCCTCAAAAAATTGAAAACAGAATTGCCATAAGATCCAGCAATCCCTCTTCTAGGTATATAGCCAAGGACATTGAAACCAGGATCTTGAAGAGATATCTACACTTTCATGTTCACTGCAGCGTTATTCACGATAGCTGAGATATGCAAGCAACTAAAATGTCCATCAACAGGCAACTAGATAATGTGCTATATATACATATACATATACATATACATATATATACATATATATATATACACACACAATGGAATATTTTCATCTATAAAACAAAATCCTGTCA... | benign | 117,095 |
Considering the variant on chromosome 7, location 21773774, involving gene DNAH11 (dynein axonemal heavy chain 11), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Primary_ciliary_dyskinesia', 'Primary_ciliary_dyskinesia_7'] | GGCCAAATCTAGCAGGAATGATATTCTCCCCTCACGTCTCTCAAAGTGAAAAATACAGCATTGCGTAGCCCTCGCTGCGGCAGCACCAGCAGCAACTCCTCTCAATTCTCCCCCAACGCCCCCCACAAAAAAAAATAATAAAATAAAATAACTGGAGATAAATGAATGGCAGAATAAATAATTTATGCTAATGAAATTACTGCAATTAGTAGTTCTACAATGACCCTTTTAAAAGCCACAGCTGTTAATGTCAGGAAGTGCTGTCACTACTGACCTTATCATAAGAGAAAGTGACAAATTGAGAATGCAGGGAAGACCAG... | GGCCAAATCTAGCAGGAATGATATTCTCCCCTCACGTCTCTCAAAGTGAAAAATACAGCATTGCGTAGCCCTCGCTGCGGCAGCACCAGCAGCAACTCCTCTCAATTCTCCCCCAACGCCCCCCACAAAAAAAAATAATAAAATAAAATAACTGGAGATAAATGAATGGCAGAATAAATAATTTATGCTAATGAAATTACTGCAATTAGTAGTTCTACAATGACCCTTTTAAAAGCCACAGCTGTTAATGTCAGGAAGTGCTGTCACTACTGACCTTATCATAAGAGAAAGTGACAAATTGAGAATGCAGGGAAGACCAG... | pathogenic | 117,097 |
The mutation impacting DNAH11 (dynein axonemal heavy chain 11) on chromosome 7 at position 21784502: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Primary_ciliary_dyskinesia', 'Primary_ciliary_dyskinesia_7'] | TGAGAATGAGAAATCAGTTGACCAACCTGAGAATCCTGTTCATTTGTATAAGTGAGTTTTTATTTAATGTTCAAGATTGTTTTGTTTATAAAAATTACCCAAAGGAAAAATACTCCATTAATAGTAAAGGAGTCAGAAAAGAGTAGCAGCTCCTAGGCTGATAGAAATGGCACTTTAGCAAGACGCAGTGGCCCATGCCTGTAATCTCAGCACTTTGAGAGGCTGAAGCAGGCGGATAACTTGAGGTCAGCAGTTCAAGACCAGCCTGGCCAACATGGTGAAGCCCCTGTACTAAAAATATAAAAAATCAGCCGGGTGTA... | TGAGAATGAGAAATCAGTTGACCAACCTGAGAATCCTGTTCATTTGTATAAGTGAGTTTTTATTTAATGTTCAAGATTGTTTTGTTTATAAAAATTACCCAAAGGAAAAATACTCCATTAATAGTAAAGGAGTCAGAAAAGAGTAGCAGCTCCTAGGCTGATAGAAATGGCACTTTAGCAAGACGCAGTGGCCCATGCCTGTAATCTCAGCACTTTGAGAGGCTGAAGCAGGCGGATAACTTGAGGTCAGCAGTTCAAGACCAGCCTGGCCAACATGGTGAAGCCCCTGTACTAAAAATATAAAAAATCAGCCGGGTGTA... | pathogenic | 117,115 |
Regarding the variant found on chromosome 7 at position 21784522 in gene DNAH11 (dynein axonemal heavy chain 11): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Primary_ciliary_dyskinesia', 'Primary_ciliary_dyskinesia_7'] | ACCAACCTGAGAATCCTGTTCATTTGTATAAGTGAGTTTTTATTTAATGTTCAAGATTGTTTTGTTTATAAAAATTACCCAAAGGAAAAATACTCCATTAATAGTAAAGGAGTCAGAAAAGAGTAGCAGCTCCTAGGCTGATAGAAATGGCACTTTAGCAAGACGCAGTGGCCCATGCCTGTAATCTCAGCACTTTGAGAGGCTGAAGCAGGCGGATAACTTGAGGTCAGCAGTTCAAGACCAGCCTGGCCAACATGGTGAAGCCCCTGTACTAAAAATATAAAAAATCAGCCGGGTGTAGTGGTGCGTGCCTGTAATCC... | ACCAACCTGAGAATCCTGTTCATTTGTATAAGTGAGTTTTTATTTAATGTTCAAGATTGTTTTGTTTATAAAAATTACCCAAAGGAAAAATACTCCATTAATAGTAAAGGAGTCAGAAAAGAGTAGCAGCTCCTAGGCTGATAGAAATGGCACTTTAGCAAGACGCAGTGGCCCATGCCTGTAATCTCAGCACTTTGAGAGGCTGAAGCAGGCGGATAACTTGAGGTCAGCAGTTCAAGACCAGCCTGGCCAACATGGTGAAGCCCCTGTACTAAAAATATAAAAAATCAGCCGGGTGTAGTGGTGCGTGCCTGTAATCC... | pathogenic | 117,117 |
Is the variant located on chromosome 7 at position 21807935, gene DNAH11 (dynein axonemal heavy chain 11), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Primary_ciliary_dyskinesia'] | AAAACATCAAGACTGATGATTTTGTCTATATCGCATTGACCTGGAAGCTCAGCCATTCAGACTAATAAATCAGGCAATTTATATTTAATCATTAACTAACTCCTGAGCTGAGCAGCTGTTCAAAATTAGAAATGGGTCACCCCAGCCAGGATGACATTACAGGCAATCTATAATGCATTAGAATAAAATTATAGTGATTTTTAACTGTCTTGAAATTTATTACAGGACATGTTCCAACTCTTAAACCCTTGTTAGCCAATGTCAGTAATGATTTATGTTGCATGGATACTATAGCAAAATTATTGACGATTTCGATAGCC... | AAAACATCAAGACTGATGATTTTGTCTATATCGCATTGACCTGGAAGCTCAGCCATTCAGACTAATAAATCAGGCAATTTATATTTAATCATTAACTAACTCCTGAGCTGAGCAGCTGTTCAAAATTAGAAATGGGTCACCCCAGCCAGGATGACATTACAGGCAATCTATAATGCATTAGAATAAAATTATAGTGATTTTTAACTGTCTTGAAATTTATTACAGGACATGTTCCAACTCTTAAACCCTTGTTAGCCAATGTCAGTAATGATTTATGTTGCATGGATACTATAGCAAAATTATTGACGATTTCGATAGCC... | pathogenic | 117,135 |
For chromosome 7, position 21867839, gene DNAH11 (dynein axonemal heavy chain 11): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | benign | GAGAGTAGCCCTGAGGGCTGCTGGTTGCCCATTTTTATGGTTATTTCTTGTTGATATGCTAAACAAGGGGTGGATTATTCATATCTCCCCTTTTTAGACTTTATAGGGTAACTTCCTGACGTTACCATGGCATTTGTAAACTGTATGGCACTGGTGCAGTGTAGCAGTGAGGACAACCAGAGGTCACCCTCATCACCATCGTGGTTTTGTTGGGTTTTAGCCAACTTCCTTACTGCAAGCTGTTTTATCTTTATGACCTGTATCTTGTGCCAACTTCCTATCTCATCCTGTGACTTAGAATGCCTTAACCTCCTAGGAAT... | GAGAGTAGCCCTGAGGGCTGCTGGTTGCCCATTTTTATGGTTATTTCTTGTTGATATGCTAAACAAGGGGTGGATTATTCATATCTCCCCTTTTTAGACTTTATAGGGTAACTTCCTGACGTTACCATGGCATTTGTAAACTGTATGGCACTGGTGCAGTGTAGCAGTGAGGACAACCAGAGGTCACCCTCATCACCATCGTGGTTTTGTTGGGTTTTAGCCAACTTCCTTACTGCAAGCTGTTTTATCTTTATGACCTGTATCTTGTGCCAACTTCCTATCTCATCCTGTGACTTAGAATGCCTTAACCTCCTAGGAAT... | benign | 117,192 |
Clinical classification of chromosome 7, position 21899968, gene DNAH11 (dynein axonemal heavy chain 11): benign or pathogenic? Disease(s) if pathogenic? | benign | TTTCAGCTTTCATTTTATTGCTTTCACTCTAACCCTTTACCTCTTTATTTCCATTTGTTTTTATTATTCTCCCTTACGCTGTTTCACTTTTGCTTTCATTTCTATAATTTTATTTTCTACTTCTTATTTGGGGTCTTCAAACTTAATTTCCTTACTATTTCCTACCTGATCCCTTCTAAGTCATGATCTTGTTTATATCAACAATCACTTGTTTTAGTTGTTACAAATTGTCTGCAGTGTTTATCCTCATGATGGCAACATTTTGAGAGAAATGTCTTCCTGCCTTTGCTTTTCTCATTCGCCTTTTTCCTTTGTGTGGT... | TTTCAGCTTTCATTTTATTGCTTTCACTCTAACCCTTTACCTCTTTATTTCCATTTGTTTTTATTATTCTCCCTTACGCTGTTTCACTTTTGCTTTCATTTCTATAATTTTATTTTCTACTTCTTATTTGGGGTCTTCAAACTTAATTTCCTTACTATTTCCTACCTGATCCCTTCTAAGTCATGATCTTGTTTATATCAACAATCACTTGTTTTAGTTGTTACAAATTGTCTGCAGTGTTTATCCTCATGATGGCAACATTTTGAGAGAAATGTCTTCCTGCCTTTGCTTTTCTCATTCGCCTTTTTCCTTTGTGTGGT... | benign | 117,246 |
Variant chromosome 7, position 21899979, gene DNAH11 (dynein axonemal heavy chain 11): benign or pathogenic? Disease(s)? | pathogenic; ['DNAH11-related_disorder', 'Primary_ciliary_dyskinesia', 'Primary_ciliary_dyskinesia_7'] | ATTTTATTGCTTTCACTCTAACCCTTTACCTCTTTATTTCCATTTGTTTTTATTATTCTCCCTTACGCTGTTTCACTTTTGCTTTCATTTCTATAATTTTATTTTCTACTTCTTATTTGGGGTCTTCAAACTTAATTTCCTTACTATTTCCTACCTGATCCCTTCTAAGTCATGATCTTGTTTATATCAACAATCACTTGTTTTAGTTGTTACAAATTGTCTGCAGTGTTTATCCTCATGATGGCAACATTTTGAGAGAAATGTCTTCCTGCCTTTGCTTTTCTCATTCGCCTTTTTCCTTTGTGTGGTGCCTATGCTGT... | ATTTTATTGCTTTCACTCTAACCCTTTACCTCTTTATTTCCATTTGTTTTTATTATTCTCCCTTACGCTGTTTCACTTTTGCTTTCATTTCTATAATTTTATTTTCTACTTCTTATTTGGGGTCTTCAAACTTAATTTCCTTACTATTTCCTACCTGATCCCTTCTAAGTCATGATCTTGTTTATATCAACAATCACTTGTTTTAGTTGTTACAAATTGTCTGCAGTGTTTATCCTCATGATGGCAACATTTTGAGAGAAATGTCTTCCTGCCTTTGCTTTTCTCATTCGCCTTTTTCCTTTGTGTGGTGCCTATGCTGT... | pathogenic | 117,247 |
Is the variant located on chromosome 7 at position 21900050, gene DNAH11 (dynein axonemal heavy chain 11), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Primary_ciliary_dyskinesia'] | TTCACTTTTGCTTTCATTTCTATAATTTTATTTTCTACTTCTTATTTGGGGTCTTCAAACTTAATTTCCTTACTATTTCCTACCTGATCCCTTCTAAGTCATGATCTTGTTTATATCAACAATCACTTGTTTTAGTTGTTACAAATTGTCTGCAGTGTTTATCCTCATGATGGCAACATTTTGAGAGAAATGTCTTCCTGCCTTTGCTTTTCTCATTCGCCTTTTTCCTTTGTGTGGTGCCTATGCTGTTTCTTCTTCTTATCGTCGAGTATGCTTTTTCGGATCCAGCTATCTGGAAGAACTTAATATAGGTCCGGGCA... | TTCACTTTTGCTTTCATTTCTATAATTTTATTTTCTACTTCTTATTTGGGGTCTTCAAACTTAATTTCCTTACTATTTCCTACCTGATCCCTTCTAAGTCATGATCTTGTTTATATCAACAATCACTTGTTTTAGTTGTTACAAATTGTCTGCAGTGTTTATCCTCATGATGGCAACATTTTGAGAGAAATGTCTTCCTGCCTTTGCTTTTCTCATTCGCCTTTTTCCTTTGTGTGGTGCCTATGCTGTTTCTTCTTCTTATCGTCGAGTATGCTTTTTCGGATCCAGCTATCTGGAAGAACTTAATATAGGTCCGGGCA... | pathogenic | 117,250 |
For chromosome 7, position 21901118, gene DNAH11: benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Primary_ciliary_dyskinesia'] | TGTTGCATAAATGGAAATGAGTTTTCCACATTCCTCAGTGTATCTTGCTCTAATGTAAACGCTACAGTCATCAAGTCTCCAATGGGAAACAAACTAGCCCTTTAAAGGGACAGTGCCCTGCAAATTGTCAGGGAAGGATTTTACCAGCTAGCAGTGGTATACTTCTCCTCCACCACCACCCTGCCCTAACCGCCCACAACAGAACATACTGGAAAATGGCTATTTTACTGAACAGCAAGTTTTTCTTCCTCCCTCCCATAAACCAGGTTCAATGACCTCCTCCTGCGATGCCGAGAACTCGATACTTGGACACAAGACCT... | TGTTGCATAAATGGAAATGAGTTTTCCACATTCCTCAGTGTATCTTGCTCTAATGTAAACGCTACAGTCATCAAGTCTCCAATGGGAAACAAACTAGCCCTTTAAAGGGACAGTGCCCTGCAAATTGTCAGGGAAGGATTTTACCAGCTAGCAGTGGTATACTTCTCCTCCACCACCACCCTGCCCTAACCGCCCACAACAGAACATACTGGAAAATGGCTATTTTACTGAACAGCAAGTTTTTCTTCCTCCCTCCCATAAACCAGGTTCAATGACCTCCTCCTGCGATGCCGAGAACTCGATACTTGGACACAAGACCT... | pathogenic | 117,261 |
Variant chromosome 7, position 22983971, gene HYCC1 (hyccin PI4KA lipid kinase complex subunit 1): benign or pathogenic? Disease(s)? | pathogenic; ['Hypomyelination_and_Congenital_Cataract'] | GCTCTGAACCATTAGAGCTATATTCACTAGAGTTATCTGAATAAAAGGAATGCTATAAACTAATCTAGCCAATCATAAATTTATCCTACAAACACTTTCCAAAGTAGCCTAGTTAAAACATACTTCATGACAGAATAATTTTTAAGCTTCTCAAAATAATAAATAATAAATGATCAACAACATTTGTTAAAAAACATAAAGCGTATGGCTATACTTACCCTATTTGGTGAAATATATAATTCTAAACCAAACATGGAAAACCTTAAAACAGCTTTCACTCAATATTTAAAAAGTAAAATCCTTCAAGAAAACAGCCTACC... | GCTCTGAACCATTAGAGCTATATTCACTAGAGTTATCTGAATAAAAGGAATGCTATAAACTAATCTAGCCAATCATAAATTTATCCTACAAACACTTTCCAAAGTAGCCTAGTTAAAACATACTTCATGACAGAATAATTTTTAAGCTTCTCAAAATAATAAATAATAAATGATCAACAACATTTGTTAAAAAACATAAAGCGTATGGCTATACTTACCCTATTTGGTGAAATATATAATTCTAAACCAAACATGGAAAACCTTAAAACAGCTTTCACTCAATATTTAAAAAGTAAAATCCTTCAAGAAAACAGCCTACC... | pathogenic | 117,295 |
A mutation at chromosome position 23140894 on chromosome 7 in gene KLHL7 (kelch like family member 7): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['KLHL7-related_disorder', 'PERCHING_syndrome', 'Retinitis_pigmentosa_42'] | AGTGCTCCAGGCTTGAAGGCTTTGTGGGTTAATTCTATCAACCTTTCAAAGAATAGATTAATTCTTACGTTATTTAAATTGTTCTAAATCTCTAGAAAGGGTAGAAAACTTGCCAGCTCATTCTCCTGGGGTAGGGTTACCATAATAGCAACATTGGATGAAGAAAGTGTGGGCTTGTATATACGTGTATGTGTACAAACACATATAACATTTTAGTTTCATTGAAAAAGATTTATTAATGCTAAAAAAAAAAAAAAAACAAGAATACCCCTCGTGTGGAATGGGGATAGTGGGAAAGGTTATGCATGTGTGGTGACAAC... | AGTGCTCCAGGCTTGAAGGCTTTGTGGGTTAATTCTATCAACCTTTCAAAGAATAGATTAATTCTTACGTTATTTAAATTGTTCTAAATCTCTAGAAAGGGTAGAAAACTTGCCAGCTCATTCTCCTGGGGTAGGGTTACCATAATAGCAACATTGGATGAAGAAAGTGTGGGCTTGTATATACGTGTATGTGTACAAACACATATAACATTTTAGTTTCATTGAAAAAGATTTATTAATGCTAAAAAAAAAAAAAAAACAAGAATACCCCTCGTGTGGAATGGGGATAGTGGGAAAGGTTATGCATGTGTGGTGACAAC... | pathogenic | 117,304 |
Evaluate if the mutation on chromosome 7 at position 23140901 in KLHL7 (kelch like family member 7) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['KLHL7-related_disorder', 'PERCHING_syndrome', 'Retinitis_pigmentosa_42'] | CAGGCTTGAAGGCTTTGTGGGTTAATTCTATCAACCTTTCAAAGAATAGATTAATTCTTACGTTATTTAAATTGTTCTAAATCTCTAGAAAGGGTAGAAAACTTGCCAGCTCATTCTCCTGGGGTAGGGTTACCATAATAGCAACATTGGATGAAGAAAGTGTGGGCTTGTATATACGTGTATGTGTACAAACACATATAACATTTTAGTTTCATTGAAAAAGATTTATTAATGCTAAAAAAAAAAAAAAAACAAGAATACCCCTCGTGTGGAATGGGGATAGTGGGAAAGGTTATGCATGTGTGGTGACAACAGGGACA... | CAGGCTTGAAGGCTTTGTGGGTTAATTCTATCAACCTTTCAAAGAATAGATTAATTCTTACGTTATTTAAATTGTTCTAAATCTCTAGAAAGGGTAGAAAACTTGCCAGCTCATTCTCCTGGGGTAGGGTTACCATAATAGCAACATTGGATGAAGAAAGTGTGGGCTTGTATATACGTGTATGTGTACAAACACATATAACATTTTAGTTTCATTGAAAAAGATTTATTAATGCTAAAAAAAAAAAAAAAACAAGAATACCCCTCGTGTGGAATGGGGATAGTGGGAAAGGTTATGCATGTGTGGTGACAACAGGGACA... | pathogenic | 117,305 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 7, position 23140920, gene KLHL7 (kelch like family member 7). What disease(s) is it linked to if pathogenic? | pathogenic; ['Inborn_genetic_diseases', 'Retinitis_pigmentosa'] | GGTTAATTCTATCAACCTTTCAAAGAATAGATTAATTCTTACGTTATTTAAATTGTTCTAAATCTCTAGAAAGGGTAGAAAACTTGCCAGCTCATTCTCCTGGGGTAGGGTTACCATAATAGCAACATTGGATGAAGAAAGTGTGGGCTTGTATATACGTGTATGTGTACAAACACATATAACATTTTAGTTTCATTGAAAAAGATTTATTAATGCTAAAAAAAAAAAAAAAACAAGAATACCCCTCGTGTGGAATGGGGATAGTGGGAAAGGTTATGCATGTGTGGTGACAACAGGGACATGGGAACTCTGTAATGTTT... | GGTTAATTCTATCAACCTTTCAAAGAATAGATTAATTCTTACGTTATTTAAATTGTTCTAAATCTCTAGAAAGGGTAGAAAACTTGCCAGCTCATTCTCCTGGGGTAGGGTTACCATAATAGCAACATTGGATGAAGAAAGTGTGGGCTTGTATATACGTGTATGTGTACAAACACATATAACATTTTAGTTTCATTGAAAAAGATTTATTAATGCTAAAAAAAAAAAAAAAACAAGAATACCCCTCGTGTGGAATGGGGATAGTGGGAAAGGTTATGCATGTGTGGTGACAACAGGGACATGGGAACTCTGTAATGTTT... | pathogenic | 117,306 |
Variant at chromosome 7, position 23165704, gene KLHL7 (kelch like family member 7): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['PERCHING_syndrome'] | CATGGCATATCACAGCAGAGGCAAGAAAGGCTGACTAGGACCAAGGAAAATAGGACTTTATACATGGATGTGTCCACATGTGTACGTGTGTATAATGAGAGATATATCAAAATTTAAGAAATCCTTCTACCCATATCTTTTCCAGGCTTTCCAATTTTCCGCATTTCACATCTCAGCACCTAAGTATAAGAACTTGCATGGAATAGATACTCAGTAAAACTTAAGTGAATTAAATCATATTTTTAGGGTAACAGCTCCCTGACCCTGCCCACACACATATACCGTCCCATCTGTGACTCTACTGTTATTTGTCCATCTTC... | CATGGCATATCACAGCAGAGGCAAGAAAGGCTGACTAGGACCAAGGAAAATAGGACTTTATACATGGATGTGTCCACATGTGTACGTGTGTATAATGAGAGATATATCAAAATTTAAGAAATCCTTCTACCCATATCTTTTCCAGGCTTTCCAATTTTCCGCATTTCACATCTCAGCACCTAAGTATAAGAACTTGCATGGAATAGATACTCAGTAAAACTTAAGTGAATTAAATCATATTTTTAGGGTAACAGCTCCCTGACCCTGCCCACACACATATACCGTCCCATCTGTGACTCTACTGTTATTTGTCCATCTTC... | pathogenic | 117,308 |
Evaluate this variant at chromosome 7, position 23254254, gene GPNMB (glycoprotein nmb): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Amyloidosis,_primary_localized_cutaneous,_3', 'GPNMB-related_disorder'] | CAAATAACAAGGTAGTACACTTAAAATTTCATCATATTGATCATTACATTAAATGTGAATTATCTAAACCCTGCAACTAAAAGGCAGAGATTGCCAGACTGGATTTTTAAACATCCAATTATATGCTTTCTATGAGAAACTCACTTCAAATATAAAAATGCAGACAGGTTTAAAATGTAAGGATGAGTAGAAACATACATCAATCTGAACATTTTTTAAAGTAAAAGAATGGAAAAAGATATACCAGTTAAACACTAAGCATTCATATCAAAGTATTCTTTAGAACAAGGGATATTACCAGGGATAAAGAGCATCAATTC... | CAAATAACAAGGTAGTACACTTAAAATTTCATCATATTGATCATTACATTAAATGTGAATTATCTAAACCCTGCAACTAAAAGGCAGAGATTGCCAGACTGGATTTTTAAACATCCAATTATATGCTTTCTATGAGAAACTCACTTCAAATATAAAAATGCAGACAGGTTTAAAATGTAAGGATGAGTAGAAACATACATCAATCTGAACATTTTTTAAAGTAAAAGAATGGAAAAAGATATACCAGTTAAACACTAAGCATTCATATCAAAGTATTCTTTAGAACAAGGGATATTACCAGGGATAAAGAGCATCAATTC... | pathogenic | 117,320 |
Is the variant located on chromosome 7 at position 24699237, gene GSDME (gasdermin E), benign or pathogenic? If pathogenic, specify the disease(s) linked. | benign | TTCTAGGAAGTATTCCTTTTATTTACTGTTTTCCAGATGACCTGAGCTAATAGACTTGTTTGCAAATCTAATTATGAAAAACAAGTATGGTTCTTGATGTCAATAGAGGCACTTTTTAAAAAAGATTTAATGAGAAAGTTGGAGATACTATCTAGTTAGAAACCTCCAAAGATGATATCTCCAACTTCCTCATTAAATCTTTTTCAAACCTTTGGAGGCCCAATTCCACCTCACTGCAAGCACACCTAGCCTTGCTGCACCCGCATCTCTACAGGTGTCTGCTAAGATGCCTGGCAGTAACCTCAGGCTGGGAACAACTG... | TTCTAGGAAGTATTCCTTTTATTTACTGTTTTCCAGATGACCTGAGCTAATAGACTTGTTTGCAAATCTAATTATGAAAAACAAGTATGGTTCTTGATGTCAATAGAGGCACTTTTTAAAAAAGATTTAATGAGAAAGTTGGAGATACTATCTAGTTAGAAACCTCCAAAGATGATATCTCCAACTTCCTCATTAAATCTTTTTCAAACCTTTGGAGGCCCAATTCCACCTCACTGCAAGCACACCTAGCCTTGCTGCACCCGCATCTCTACAGGTGTCTGCTAAGATGCCTGGCAGTAACCTCAGGCTGGGAACAACTG... | benign | 117,334 |
Regarding the variant at chromosome 7 and position 24702817, affecting gene GSDME (gasdermin E): benign or pathogenic? If pathogenic, what are the associated illness(es)? | benign | TAAGCACAGCATCACACCCCAGTGAATTAAGGAGGAGCCCCACTGGCGCAGGCTGGAGACTGTCAACAGCATGGCAGGCTCCCTGTCCTTACCACCTGGTGGATGAGAGCTGTGCAGCATTCGGCTTTCTTTTCTAAATATCCACCACCCCCTTTGCCCACAGGCATTTCTAGGTATAAGGGGGAAACGGTGACCCAGAGGGTGGTGGAGTGAAGTTAACATTCTCTACTGATTCTAACTCACCCTTTCACCAGTTCTTGGAAATGTGTTAGTGTATCTGGCACTGTACTCCCAAAAGCCCTTCAGAAAGCCTCTCAAAG... | TAAGCACAGCATCACACCCCAGTGAATTAAGGAGGAGCCCCACTGGCGCAGGCTGGAGACTGTCAACAGCATGGCAGGCTCCCTGTCCTTACCACCTGGTGGATGAGAGCTGTGCAGCATTCGGCTTTCTTTTCTAAATATCCACCACCCCCTTTGCCCACAGGCATTTCTAGGTATAAGGGGGAAACGGTGACCCAGAGGGTGGTGGAGTGAAGTTAACATTCTCTACTGATTCTAACTCACCCTTTCACCAGTTCTTGGAAATGTGTTAGTGTATCTGGCACTGTACTCCCAAAAGCCCTTCAGAAAGCCTCTCAAAG... | benign | 117,338 |
A mutation at chromosome position 24706388 on chromosome 7 in gene GSDME (gasdermin E): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Autosomal_dominant_nonsyndromic_hearing_loss_5', 'Rare_genetic_deafness'] | TGTGGGACTGAAGTGCTGAAAACAGCTATTAGCCAGAAACTGGTGTGAGGACCTACGAAGACCCCATTTTCTATTCCAGCACTTTCCTCAGTTTTTAAGGAGAGAAGATTATATTAAGAGGAAAAAAAATGAACTCAGAAGGGCGGAGGATTAGCAAGAGCACAAATGGAAGGGCTGTATGCCAGCCTGGCCTCCACTGGGACTGACATATAAATGAGATCACAGTTCAGAAAAATAAAGGGCAGGATTGGTTGAAAAATTTAGACATTGCCAGCTGCACCTAAAGATTTCACTACCTCTGAGTTTCCAATTCAGAAACA... | TGTGGGACTGAAGTGCTGAAAACAGCTATTAGCCAGAAACTGGTGTGAGGACCTACGAAGACCCCATTTTCTATTCCAGCACTTTCCTCAGTTTTTAAGGAGAGAAGATTATATTAAGAGGAAAAAAAATGAACTCAGAAGGGCGGAGGATTAGCAAGAGCACAAATGGAAGGGCTGTATGCCAGCCTGGCCTCCACTGGGACTGACATATAAATGAGATCACAGTTCAGAAAAATAAAGGGCAGGATTGGTTGAAAAATTTAGACATTGCCAGCTGCACCTAAAGATTTCACTACCTCTGAGTTTCCAATTCAGAAACA... | pathogenic | 117,347 |
A genetic alteration at chromosome 7, position 27095697, in gene HOXA1 (homeobox A1)—benign or pathogenic? If pathogenic, which disease(s) is involved? | benign | AATTTTAAACAGAGGGTGGCCCGAGAAGAAAGGGGTAGAGATTGGGAAAGACTTAGCACAGGAAGCCGGGTTTCTGAAGTTTGTGCTCTGCAGGGCTTCTTAACTGTAAGAACAAATCAAGGCTACCCTCTGAGGCATCTGATTGGGTTTAAATGAGGGAATTTTTTCTTTCACCTATAAAATTGTACCAGTTTAGAGAGTTTGCCCACCCTGTTTTAGTAACCTAAACATTTCTAGAAAATCTGTATAAAGATAAATCTCTTAGGACAAAGTATTTACAACCAGCAAACTCACACACATGAAAATGACTTAAATTAAGG... | AATTTTAAACAGAGGGTGGCCCGAGAAGAAAGGGGTAGAGATTGGGAAAGACTTAGCACAGGAAGCCGGGTTTCTGAAGTTTGTGCTCTGCAGGGCTTCTTAACTGTAAGAACAAATCAAGGCTACCCTCTGAGGCATCTGATTGGGTTTAAATGAGGGAATTTTTTCTTTCACCTATAAAATTGTACCAGTTTAGAGAGTTTGCCCACCCTGTTTTAGTAACCTAAACATTTCTAGAAAATCTGTATAAAGATAAATCTCTTAGGACAAAGTATTTACAACCAGCAAACTCACACACATGAAAATGACTTAAATTAAGG... | benign | 117,404 |
Clinical significance of chromosome 7, position 27095697, gene HOXA1 (homeobox A1): benign or pathogenic? Name the disease(s) if pathogenic. | benign | AATTTTAAACAGAGGGTGGCCCGAGAAGAAAGGGGTAGAGATTGGGAAAGACTTAGCACAGGAAGCCGGGTTTCTGAAGTTTGTGCTCTGCAGGGCTTCTTAACTGTAAGAACAAATCAAGGCTACCCTCTGAGGCATCTGATTGGGTTTAAATGAGGGAATTTTTTCTTTCACCTATAAAATTGTACCAGTTTAGAGAGTTTGCCCACCCTGTTTTAGTAACCTAAACATTTCTAGAAAATCTGTATAAAGATAAATCTCTTAGGACAAAGTATTTACAACCAGCAAACTCACACACATGAAAATGACTTAAATTAAGG... | AATTTTAAACAGAGGGTGGCCCGAGAAGAAAGGGGTAGAGATTGGGAAAGACTTAGCACAGGAAGCCGGGTTTCTGAAGTTTGTGCTCTGCAGGGCTTCTTAACTGTAAGAACAAATCAAGGCTACCCTCTGAGGCATCTGATTGGGTTTAAATGAGGGAATTTTTTCTTTCACCTATAAAATTGTACCAGTTTAGAGAGTTTGCCCACCCTGTTTTAGTAACCTAAACATTTCTAGAAAATCTGTATAAAGATAAATCTCTTAGGACAAAGTATTTACAACCAGCAAACTCACACACATGAAAATGACTTAAATTAAGG... | benign | 117,405 |
Is the genetic variant on chromosome 7, position 27095697, gene HOXA1 (homeobox A1), benign or pathogenic? If pathogenic, what disease(s) is indicated? | benign | AATTTTAAACAGAGGGTGGCCCGAGAAGAAAGGGGTAGAGATTGGGAAAGACTTAGCACAGGAAGCCGGGTTTCTGAAGTTTGTGCTCTGCAGGGCTTCTTAACTGTAAGAACAAATCAAGGCTACCCTCTGAGGCATCTGATTGGGTTTAAATGAGGGAATTTTTTCTTTCACCTATAAAATTGTACCAGTTTAGAGAGTTTGCCCACCCTGTTTTAGTAACCTAAACATTTCTAGAAAATCTGTATAAAGATAAATCTCTTAGGACAAAGTATTTACAACCAGCAAACTCACACACATGAAAATGACTTAAATTAAGG... | AATTTTAAACAGAGGGTGGCCCGAGAAGAAAGGGGTAGAGATTGGGAAAGACTTAGCACAGGAAGCCGGGTTTCTGAAGTTTGTGCTCTGCAGGGCTTCTTAACTGTAAGAACAAATCAAGGCTACCCTCTGAGGCATCTGATTGGGTTTAAATGAGGGAATTTTTTCTTTCACCTATAAAATTGTACCAGTTTAGAGAGTTTGCCCACCCTGTTTTAGTAACCTAAACATTTCTAGAAAATCTGTATAAAGATAAATCTCTTAGGACAAAGTATTTACAACCAGCAAACTCACACACATGAAAATGACTTAAATTAAGG... | benign | 117,406 |
Is chromosome 7, position 30019110, gene FKBP14 variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Cardiovascular_phenotype', 'Congenital_muscular_dystrophy', 'Ehlers-Danlos_syndrome,_kyphoscoliotic_type,_2', 'FKBP14-related_disorder', 'Hypotonia', 'Joint_hypermobility', 'Pes_valgus', 'Thoracolumbar_scoliosis'] | TAAGACTATGTATTTGGATTTGCAGAAAGAAACACTGAAAGGATATATTAGAAACTAATAAAACTAAGCCGGGTGCAATGGTGCATGCTTGTACATAGCGAGACCTCATCTCTACAAAAAAAAAAACAGAAAGAAAGAAAAAAGTAATTAATAAAACTGGATGTGGGGATAATAGAATAGAAGAGGATGTAGGTAGGAGAAAGACTTTTAAAAATATGTAAATAATAGGCCGGATGCGGTAGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCACAAAGTCAGGAGCTTGAAACCATCCTGGCC... | TAAGACTATGTATTTGGATTTGCAGAAAGAAACACTGAAAGGATATATTAGAAACTAATAAAACTAAGCCGGGTGCAATGGTGCATGCTTGTACATAGCGAGACCTCATCTCTACAAAAAAAAAAACAGAAAGAAAGAAAAAAGTAATTAATAAAACTGGATGTGGGGATAATAGAATAGAAGAGGATGTAGGTAGGAGAAAGACTTTTAAAAATATGTAAATAATAGGCCGGATGCGGTAGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCACAAAGTCAGGAGCTTGAAACCATCCTGGCC... | pathogenic | 117,435 |
Variant chromosome 7, position 30026458, gene FKBP14: benign or pathogenic? Disease(s)? | benign | TTTTTCTTCAGAGCGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGCGGCGCAATCTTGGCTCACTGCAGCCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCCCACCACGCCCAGATAACTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGATGGTCTCAAACTCCTGACCTCGCGATCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCCAGCCAATTTGATGGTATTTCTTCATGAAGTTTACAGTT... | TTTTTCTTCAGAGCGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGCGGCGCAATCTTGGCTCACTGCAGCCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCCCACCACGCCCAGATAACTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGATGGTCTCAAACTCCTGACCTCGCGATCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCCAGCCAATTTGATGGTATTTCTTCATGAAGTTTACAGTT... | benign | 117,450 |
Evaluate the clinical significance of the mutation at chromosome 7, position 30026474 in gene FKBP14: benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Cardiovascular_phenotype'] | AGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGCGGCGCAATCTTGGCTCACTGCAGCCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCCCACCACGCCCAGATAACTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGATGGTCTCAAACTCCTGACCTCGCGATCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCCAGCCAATTTGATGGTATTTCTTCATGAAGTTTACAGTTAGCAGCTTCTGACCAT... | AGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGCGGCGCAATCTTGGCTCACTGCAGCCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCCCACCACGCCCAGATAACTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGATGGTCTCAAACTCCTGACCTCGCGATCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCCAGCCAATTTGATGGTATTTCTTCATGAAGTTTACAGTTAGCAGCTTCTGACCAT... | pathogenic | 117,452 |
Evaluate if the mutation on chromosome 7 at position 30612253 in GARS1 (glycyl-tRNA synthetase 1) is benign or pathogenic. Disease name(s) if pathogenic? | benign | TGAATTTTAAAATTTATTTCATCTTAATTGAAATTTAAATAGACATCTGCCTGGTGTCCTACCATATTGGACAGCATAGGTATAGCCTGTTGATTTGAAAGATGTGGTTTTCATGGATAAAGAATATCTGGTTAGTTTACAGTATGATTCAGAATTGGAATCTTTATCTTCTGATTCCTTGTCCACTGTTTAACAGACTTAGCCAGTGTTCCATTTCATAGCTTTAGATATTTTTCTATGATAGGGTAAGAGAGTAAGTTTTTCCTACATGAGCTAGATAGATCGTGTTTCCCAGAGTAGGGACTGAAGAATAAGAAAAA... | TGAATTTTAAAATTTATTTCATCTTAATTGAAATTTAAATAGACATCTGCCTGGTGTCCTACCATATTGGACAGCATAGGTATAGCCTGTTGATTTGAAAGATGTGGTTTTCATGGATAAAGAATATCTGGTTAGTTTACAGTATGATTCAGAATTGGAATCTTTATCTTCTGATTCCTTGTCCACTGTTTAACAGACTTAGCCAGTGTTCCATTTCATAGCTTTAGATATTTTTCTATGATAGGGTAAGAGAGTAAGTTTTTCCTACATGAGCTAGATAGATCGTGTTTCCCAGAGTAGGGACTGAAGAATAAGAAAAA... | benign | 117,499 |
For chromosome 7, position 30632227, gene GARS1 (glycyl-tRNA synthetase 1): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | benign | GGCAGGTCCCTGTTACTCTCTTATATTAAATAGAAATATCACAAGATGGAGGAAGGGAATAGAATTCTGAACCTTCTGTGATGTGAGCAGCCATATTGGTGGAATACAGGCCTTACTTAGAGTGGGATATTCATTGCTTGGCAATAAAGGTTAATTGAACTTTGGGTGAGAGGCTAAACTGGAACCTGTGTCATTCATTATTTTTATGGGACAAATTTATTCTGTGTTTTTGCCTTCAAGTGAACCTTTTGTACAAGTATTAAGAACTGCCTTCAGTTCCCATTTCCAACCTAAAGTGGTTGATTGGTTTGCCTTCCACA... | GGCAGGTCCCTGTTACTCTCTTATATTAAATAGAAATATCACAAGATGGAGGAAGGGAATAGAATTCTGAACCTTCTGTGATGTGAGCAGCCATATTGGTGGAATACAGGCCTTACTTAGAGTGGGATATTCATTGCTTGGCAATAAAGGTTAATTGAACTTTGGGTGAGAGGCTAAACTGGAACCTGTGTCATTCATTATTTTTATGGGACAAATTTATTCTGTGTTTTTGCCTTCAAGTGAACCTTTTGTACAAGTATTAAGAACTGCCTTCAGTTCCCATTTCCAACCTAAAGTGGTTGATTGGTTTGCCTTCCACA... | benign | 117,525 |
Does the variant impacting GHRHR (growth hormone releasing hormone receptor) on chromosome 7, position 30976540, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic | GAGTCGGAGCGGCCACCTTGTCATACCCGCTGGTCCTACATGGGGTGTGGAGTGGACAGTCAGGCCATGGGCTGTTCTCCAGGCTGGGAAGAGGAGGAGAAGGGACTGCCCGGCTAGGATGGGGGGTGGGAGAACAGTCTGTGAGTAGCACAGAAGGGGCATGAGCCAGGCAGGAGAGTGGAGCTCAGATTCCCAGGGCTGTGGGGCTGGGGGAAGGTGGGGTGAGGGAGCTGCCAGGGGGCCAGCAAGGAGGCATTGAACAGAGTTCAGAAACGTTTGTCCATCTAGGTGGATAGAAAGGGTGAGCCCAGCCTGGATTG... | GAGTCGGAGCGGCCACCTTGTCATACCCGCTGGTCCTACATGGGGTGTGGAGTGGACAGTCAGGCCATGGGCTGTTCTCCAGGCTGGGAAGAGGAGGAGAAGGGACTGCCCGGCTAGGATGGGGGGTGGGAGAACAGTCTGTGAGTAGCACAGAAGGGGCATGAGCCAGGCAGGAGAGTGGAGCTCAGATTCCCAGGGCTGTGGGGCTGGGGGAAGGTGGGGTGAGGGAGCTGCCAGGGGGCCAGCAAGGAGGCATTGAACAGAGTTCAGAAACGTTTGTCCATCTAGGTGGATAGAAAGGGTGAGCCCAGCCTGGATTG... | pathogenic | 117,560 |
Mutation at chromosome 7, position 33095235, within RP9 (RP9 pre-mRNA splicing factor): benign or pathogenic? If pathogenic, indicate the disease(s). | benign | GAACCAACAGTGTCCACATCACTTGTTAGCAAGGCAGATTCCCAGGTTCACCCCAGACCTAGGAAATGGAAAATTCTGGTAGTTTTTGAATGGAGCACAGGAATCTGCATCTTTAGTTGATTTGGATGCCTCGAAGGCTTGAGAATTATTGATGCAGCATTTCTCGTGTTGTGTAAGAATGCTTTTTATCATGAATGGGATTGCGGAGGGACAGTAGCCAATTCCTGGAAGAAGAGGACCAGCTCTACCTGGGTGGGAAATGCTGAGCATATGGCAGAGGACAGATGGCCTGTGTTCTGCATGACAAGGGTAAGTGTAAG... | GAACCAACAGTGTCCACATCACTTGTTAGCAAGGCAGATTCCCAGGTTCACCCCAGACCTAGGAAATGGAAAATTCTGGTAGTTTTTGAATGGAGCACAGGAATCTGCATCTTTAGTTGATTTGGATGCCTCGAAGGCTTGAGAATTATTGATGCAGCATTTCTCGTGTTGTGTAAGAATGCTTTTTATCATGAATGGGATTGCGGAGGGACAGTAGCCAATTCCTGGAAGAAGAGGACCAGCTCTACCTGGGTGGGAAATGCTGAGCATATGGCAGAGGACAGATGGCCTGTGTTCTGCATGACAAGGGTAAGTGTAAG... | benign | 117,585 |
Is the chromosome 7, position 33152801 variant in BBS9 (Bardet-Biedl syndrome 9) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['BBS9-related_disorder', 'Bardet-Biedl_syndrome', 'Bardet-Biedl_syndrome_9'] | GTGGCTATGAGTGTCACAGCCTATGATGTATGCAGCAACATCAAGTGCTGTTTTGGAGGAAAGGCAAAACTTAAAATGAATAGATGTTTCTGCATAAAGAGTAATACATCAACTAGAGATCTTAGAGGAGTTCTTGGACTTGAGTTTAGTCAGGAGTCACATGGCAGATTAGCATTTAAAATAAAGTTACTCTTGTCCCCACAAGGAATCTTACTGTTTTGTACCGCATTTCAGGTCAAGAACCAATTCCCATACTTTGGAGGCCAAGGCAGGTAGATTGCTTGAGTCCAGAAGTTTGAGACCAGCCCAGACAACATGGC... | GTGGCTATGAGTGTCACAGCCTATGATGTATGCAGCAACATCAAGTGCTGTTTTGGAGGAAAGGCAAAACTTAAAATGAATAGATGTTTCTGCATAAAGAGTAATACATCAACTAGAGATCTTAGAGGAGTTCTTGGACTTGAGTTTAGTCAGGAGTCACATGGCAGATTAGCATTTAAAATAAAGTTACTCTTGTCCCCACAAGGAATCTTACTGTTTTGTACCGCATTTCAGGTCAAGAACCAATTCCCATACTTTGGAGGCCAAGGCAGGTAGATTGCTTGAGTCCAGAAGTTTGAGACCAGCCCAGACAACATGGC... | pathogenic | 117,596 |
Chromosome 7, position 33155681, gene BBS9 (Bardet-Biedl syndrome 9): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['BBS9-related_disorder', 'Bardet-Biedl_syndrome', 'Bardet-Biedl_syndrome_9'] | CCCAGGGGCCATTTAGTCAGGGCCCTAACTCCTGCTTGAAAACCAAACAACCACTCATGAGCATTCACATTCTTCTAGTGATATGTTTTATTCTGTTGGGAAGCTGTAGCTTAGATGCTTTAGGCTGGGATATGAGATGAGACTTTTATGCTTTGTGACAGGCTGGATTGCGGAGATTTTGTGACCGAAGTGGTTGGTAAATATCTACTCCATCTAAAAGCAGATGGTGATTAGGTTCCCATCATGTGCCTAGGACATATTAGGTGTGATGGATTTACAAAGTAAGGAGACAAAAGCATCCTTCCTGCTAAAAAGTGTTT... | CCCAGGGGCCATTTAGTCAGGGCCCTAACTCCTGCTTGAAAACCAAACAACCACTCATGAGCATTCACATTCTTCTAGTGATATGTTTTATTCTGTTGGGAAGCTGTAGCTTAGATGCTTTAGGCTGGGATATGAGATGAGACTTTTATGCTTTGTGACAGGCTGGATTGCGGAGATTTTGTGACCGAAGTGGTTGGTAAATATCTACTCCATCTAAAAGCAGATGGTGATTAGGTTCCCATCATGTGCCTAGGACATATTAGGTGTGATGGATTTACAAAGTAAGGAGACAAAAGCATCCTTCCTGCTAAAAAGTGTTT... | pathogenic | 117,602 |
Does the genetic variant at chromosome 7, position 33177581, impacting gene BBS9 (Bardet-Biedl syndrome 9), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Bardet-Biedl_syndrome', 'Bardet-Biedl_syndrome_9'] | GCTCTGCTCTTCAACATGAGCAGGAAACATTTATGGACAGACAATGCAAGTGAGGTACAGAAACAGCTTCATTCCTGACAGCTTAGCATTTACCTTACTTGAACATGGTCTGGTCAGTTGGCTGCCTACGATTGGCTGAATGTCAGCTACCATGATTGGCCAGGCTGAGAAAGGCAAAAGGGAGGGAAAAAAAAATCTTTACTTATCTTAGGTTCTCCAGCTGGGGCTCTATAAATTAGACTGGCCAAAGACTAATTAACAATAGGAAAAACAAGCAGAAATTTATTAACATATGCATTGCTCATGTACACATAGGAATA... | GCTCTGCTCTTCAACATGAGCAGGAAACATTTATGGACAGACAATGCAAGTGAGGTACAGAAACAGCTTCATTCCTGACAGCTTAGCATTTACCTTACTTGAACATGGTCTGGTCAGTTGGCTGCCTACGATTGGCTGAATGTCAGCTACCATGATTGGCCAGGCTGAGAAAGGCAAAAGGGAGGGAAAAAAAAATCTTTACTTATCTTAGGTTCTCCAGCTGGGGCTCTATAAATTAGACTGGCCAAAGACTAATTAACAATAGGAAAAACAAGCAGAAATTTATTAACATATGCATTGCTCATGTACACATAGGAATA... | pathogenic | 117,606 |
Evaluate if the mutation on chromosome 7 at position 33264382 in BBS9 (Bardet-Biedl syndrome 9) is benign or pathogenic. Disease name(s) if pathogenic? | benign | ACAATCTCATGAATATCTATATTATCCCTTGGCAGGTTGGTTTCTGTAGGAAATGAACCACCTATGTAACTAATTGCCTAGGGTTAGATCCATAGCAGGACAAGCTTTGGGATGATGTTCTAGTCACCAGCGCATACTATTTCTGTTGCTATGAATTGGGAATAGGAAAACAATCCTATTTGGAGTTCAGAATGTGAGGTCTAATTATTTTGCACTTTTAGAGACTTTGGGATTTTGAAGGTCAATCTCAGATGGTATAGAGAGATTGGCTGCAGCTGACCGTGGGATTTTGTAGCATGGTCTTACAAGGCTGAGATCTT... | ACAATCTCATGAATATCTATATTATCCCTTGGCAGGTTGGTTTCTGTAGGAAATGAACCACCTATGTAACTAATTGCCTAGGGTTAGATCCATAGCAGGACAAGCTTTGGGATGATGTTCTAGTCACCAGCGCATACTATTTCTGTTGCTATGAATTGGGAATAGGAAAACAATCCTATTTGGAGTTCAGAATGTGAGGTCTAATTATTTTGCACTTTTAGAGACTTTGGGATTTTGAAGGTCAATCTCAGATGGTATAGAGAGATTGGCTGCAGCTGACCGTGGGATTTTGTAGCATGGTCTTACAAGGCTGAGATCTT... | benign | 117,615 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 7, position 33273162, gene BBS9 (Bardet-Biedl syndrome 9). What disease(s) is it linked to if pathogenic? | pathogenic; ['Abnormality_of_the_eye', 'Bardet-Biedl_syndrome'] | CTTCATATGTGAAGGAGAAATAAGGATCTTTTCAGACAAGCAAATGAGAAGGGAAATTGTTACTACCAGACCTGCCTTACTAGAGCTCCTGAAAGAAGCACTAAATATGGAAAAGAAAGACTGTTACTAACCAATACAAAAAACACTTAAATACTTAAATACATGGAGTAATGACACTATAAAGCAGCCATACAAACAAGTCTGCGTAATAACCAGCTAACAACAATGACAGGATCAAATCCACACGTATCAATACTAACCTTGAATGTAAACAGGCTAAATGACCCATTTAAAACACACAGAGTGGCAAACTGGATCAA... | CTTCATATGTGAAGGAGAAATAAGGATCTTTTCAGACAAGCAAATGAGAAGGGAAATTGTTACTACCAGACCTGCCTTACTAGAGCTCCTGAAAGAAGCACTAAATATGGAAAAGAAAGACTGTTACTAACCAATACAAAAAACACTTAAATACTTAAATACATGGAGTAATGACACTATAAAGCAGCCATACAAACAAGTCTGCGTAATAACCAGCTAACAACAATGACAGGATCAAATCCACACGTATCAATACTAACCTTGAATGTAAACAGGCTAAATGACCCATTTAAAACACACAGAGTGGCAAACTGGATCAA... | pathogenic | 117,618 |
Variant on chromosome 7, at position 33336598, affecting BBS9 (Bardet-Biedl syndrome 9): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Bardet-Biedl_syndrome', 'Bardet-Biedl_syndrome_9'] | GAAAGTTGGGATTTCCATGGCCACTAGATGGCTTCAGTTACCTGCAAAGAAAGGTTCAAACCCAAAGGTACTCTGGGGTTGCTTTTCATACTTTAAGAAGATCATTCCATTTTTGGACTATTTGTTTTCTGAGGGGTAGATGGCAGAAGCAATTGATAAAACTTAAAGTTTTTGAGGATTATCTAGTCTTACCTTCTCATTTTACATATAAAGAATATTTAGGAAAGCTTTCCCAAGTTGACTGAGCTCTACAGGAGCAGCATCAGAGCCAGACTCAAGTCTCCTGCGTCCTAGTCTAGTTCTTTAGCTGTTGAACCAGT... | GAAAGTTGGGATTTCCATGGCCACTAGATGGCTTCAGTTACCTGCAAAGAAAGGTTCAAACCCAAAGGTACTCTGGGGTTGCTTTTCATACTTTAAGAAGATCATTCCATTTTTGGACTATTTGTTTTCTGAGGGGTAGATGGCAGAAGCAATTGATAAAACTTAAAGTTTTTGAGGATTATCTAGTCTTACCTTCTCATTTTACATATAAAGAATATTTAGGAAAGCTTTCCCAAGTTGACTGAGCTCTACAGGAGCAGCATCAGAGCCAGACTCAAGTCTCCTGCGTCCTAGTCTAGTTCTTTAGCTGTTGAACCAGT... | pathogenic | 117,629 |
Evaluate the clinical significance of the mutation at chromosome 7, position 33344578 in gene BBS9 (Bardet-Biedl syndrome 9): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Bardet-Biedl_syndrome', 'Bardet-Biedl_syndrome_9'] | ATAATGTATATTTCCCTATTGGTAACCCTGAATGCTATTTCCTCTTAAGTAGGTGTCTCTTTCCAGCTTCATTTTCCCTGTGTTACTATTTTTTCTTTCTTAAGAGATTTCTTGAGAGTATCATATTCATCTCATTGGAAAACATTAGCCCTACAATTTATGTGGCTTTGGTGCCATGACGTCTTCTTATAGCCATTTCTTTCTTGCTATAGTTTTATGTTCCCAAAGGACTGCTGTCCTTGAAGTATCTAGGTGTTTAGTCATGGATTGATATGAGCAGGAAACAGGAGATGTTGGTTTCTCTTCTAGATCTGTGGATA... | ATAATGTATATTTCCCTATTGGTAACCCTGAATGCTATTTCCTCTTAAGTAGGTGTCTCTTTCCAGCTTCATTTTCCCTGTGTTACTATTTTTTCTTTCTTAAGAGATTTCTTGAGAGTATCATATTCATCTCATTGGAAAACATTAGCCCTACAATTTATGTGGCTTTGGTGCCATGACGTCTTCTTATAGCCATTTCTTTCTTGCTATAGTTTTATGTTCCCAAAGGACTGCTGTCCTTGAAGTATCTAGGTGTTTAGTCATGGATTGATATGAGCAGGAAACAGGAGATGTTGGTTTCTCTTCTAGATCTGTGGATA... | pathogenic | 117,635 |
Gene mutation in BBS9 (Bardet-Biedl syndrome 9) at chromosome 7, position 33344584—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Bardet-Biedl_syndrome'] | TATATTTCCCTATTGGTAACCCTGAATGCTATTTCCTCTTAAGTAGGTGTCTCTTTCCAGCTTCATTTTCCCTGTGTTACTATTTTTTCTTTCTTAAGAGATTTCTTGAGAGTATCATATTCATCTCATTGGAAAACATTAGCCCTACAATTTATGTGGCTTTGGTGCCATGACGTCTTCTTATAGCCATTTCTTTCTTGCTATAGTTTTATGTTCCCAAAGGACTGCTGTCCTTGAAGTATCTAGGTGTTTAGTCATGGATTGATATGAGCAGGAAACAGGAGATGTTGGTTTCTCTTCTAGATCTGTGGATAGCTAAA... | TATATTTCCCTATTGGTAACCCTGAATGCTATTTCCTCTTAAGTAGGTGTCTCTTTCCAGCTTCATTTTCCCTGTGTTACTATTTTTTCTTTCTTAAGAGATTTCTTGAGAGTATCATATTCATCTCATTGGAAAACATTAGCCCTACAATTTATGTGGCTTTGGTGCCATGACGTCTTCTTATAGCCATTTCTTTCTTGCTATAGTTTTATGTTCCCAAAGGACTGCTGTCCTTGAAGTATCTAGGTGTTTAGTCATGGATTGATATGAGCAGGAAACAGGAGATGTTGGTTTCTCTTCTAGATCTGTGGATAGCTAAA... | pathogenic | 117,636 |
Clinical significance of chromosome 7, position 33383686, gene BBS9 (Bardet-Biedl syndrome 9): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Bardet-Biedl_syndrome', 'Bardet-Biedl_syndrome_9'] | ATATTTGGTGGCATTTATTTTAAAAAGTATTATCTTTGATTAAGGAAAACACCTAATCAGCATTATGGGCAGAACTCAGCATCCAGAATAAGACTGGGGTGAAGGGAGGGGTGGTGAAGCTTCAAGGAGAATGGGGTATGACTTCAGCAGCAAAGACCAGTGTGTTTGCATGGATTGTGACAGGCATACCCAGTATATTTTATTCTTTATCATTGTGAAAGGGAATGACTAGGGATGAGAGGAGATATACTATTGAATTCTGGATGGAGATGACAAATTGAAGTCCTAATAACCAATCCGAAGAAGTAATTGCATTTATA... | ATATTTGGTGGCATTTATTTTAAAAAGTATTATCTTTGATTAAGGAAAACACCTAATCAGCATTATGGGCAGAACTCAGCATCCAGAATAAGACTGGGGTGAAGGGAGGGGTGGTGAAGCTTCAAGGAGAATGGGGTATGACTTCAGCAGCAAAGACCAGTGTGTTTGCATGGATTGTGACAGGCATACCCAGTATATTTTATTCTTTATCATTGTGAAAGGGAATGACTAGGGATGAGAGGAGATATACTATTGAATTCTGGATGGAGATGACAAATTGAAGTCCTAATAACCAATCCGAAGAAGTAATTGCATTTATA... | pathogenic | 117,668 |
Evaluate this variant at chromosome 7, position 33383751, gene BBS9 (Bardet-Biedl syndrome 9): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['BBS9-related_disorder', 'Bardet-Biedl_syndrome', 'Bardet-Biedl_syndrome_1', 'Bardet-Biedl_syndrome_9', 'Retinal_dystrophy'] | TGGGCAGAACTCAGCATCCAGAATAAGACTGGGGTGAAGGGAGGGGTGGTGAAGCTTCAAGGAGAATGGGGTATGACTTCAGCAGCAAAGACCAGTGTGTTTGCATGGATTGTGACAGGCATACCCAGTATATTTTATTCTTTATCATTGTGAAAGGGAATGACTAGGGATGAGAGGAGATATACTATTGAATTCTGGATGGAGATGACAAATTGAAGTCCTAATAACCAATCCGAAGAAGTAATTGCATTTATAAAATTTACCACAGTTACCATGGGGAACATAAAGAAATATTTTATATGTCCATGTATCATGCTACT... | TGGGCAGAACTCAGCATCCAGAATAAGACTGGGGTGAAGGGAGGGGTGGTGAAGCTTCAAGGAGAATGGGGTATGACTTCAGCAGCAAAGACCAGTGTGTTTGCATGGATTGTGACAGGCATACCCAGTATATTTTATTCTTTATCATTGTGAAAGGGAATGACTAGGGATGAGAGGAGATATACTATTGAATTCTGGATGGAGATGACAAATTGAAGTCCTAATAACCAATCCGAAGAAGTAATTGCATTTATAAAATTTACCACAGTTACCATGGGGAACATAAAGAAATATTTTATATGTCCATGTATCATGCTACT... | pathogenic | 117,670 |
Does the genetic variant at chromosome 7, position 33388030, impacting gene BBS9 (Bardet-Biedl syndrome 9), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['BBS9-related_disorder', 'Bardet-Biedl_syndrome', 'Bardet-Biedl_syndrome_9'] | GGGGTGGGGGGAGCGGAGAGGGATAGCATTAGGAGATATACCTAACGTAAATGACAAGTTAATGGGTGCAGCGCACCGACATGGCACATGTATACATATGTAACAAACCTGCACGTTGTGCACATGTACCCTAGAAATTAAAGTATAATAAAAAAATAAAAAAATAAAAAGAAGAAAATGTCTCTCAAAACTGAAGGGTAAATAAAGACAAAATACATGAATACACTTTAAAAAAGTTAAAATTTCAAGTTACTTTTATTTCATATGTAATTGTAGAATGCATGCACTGAAAGGGTAAGGAATTTGGTTTGTTACTAGAA... | GGGGTGGGGGGAGCGGAGAGGGATAGCATTAGGAGATATACCTAACGTAAATGACAAGTTAATGGGTGCAGCGCACCGACATGGCACATGTATACATATGTAACAAACCTGCACGTTGTGCACATGTACCCTAGAAATTAAAGTATAATAAAAAAATAAAAAAATAAAAAGAAGAAAATGTCTCTCAAAACTGAAGGGTAAATAAAGACAAAATACATGAATACACTTTAAAAAAGTTAAAATTTCAAGTTACTTTTATTTCATATGTAATTGTAGAATGCATGCACTGAAAGGGTAAGGAATTTGGTTTGTTACTAGAA... | pathogenic | 117,671 |
Variant in gene BBS9 (Bardet-Biedl syndrome 9), located at chromosome 7 position 33388160: benign or pathogenic? What disease(s) does it cause if pathogenic? | benign | CTAGAAATTAAAGTATAATAAAAAAATAAAAAAATAAAAAGAAGAAAATGTCTCTCAAAACTGAAGGGTAAATAAAGACAAAATACATGAATACACTTTAAAAAAGTTAAAATTTCAAGTTACTTTTATTTCATATGTAATTGTAGAATGCATGCACTGAAAGGGTAAGGAATTTGGTTTGTTACTAGAAATGTAGACTACGATATGTTTGACTTCTGAGCATTTTGAATATGATGTTTATTTCAGCTAGTTTATTACTGTTTTGTAAAGTTGAGTTAGTGATTCACATGACCTAATCTTATGAAGTGTCCCTTTTACCC... | CTAGAAATTAAAGTATAATAAAAAAATAAAAAAATAAAAAGAAGAAAATGTCTCTCAAAACTGAAGGGTAAATAAAGACAAAATACATGAATACACTTTAAAAAAGTTAAAATTTCAAGTTACTTTTATTTCATATGTAATTGTAGAATGCATGCACTGAAAGGGTAAGGAATTTGGTTTGTTACTAGAAATGTAGACTACGATATGTTTGACTTCTGAGCATTTTGAATATGATGTTTATTTCAGCTAGTTTATTACTGTTTTGTAAAGTTGAGTTAGTGATTCACATGACCTAATCTTATGAAGTGTCCCTTTTACCC... | benign | 117,674 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 7, position 33534155, gene BBS9 (Bardet-Biedl syndrome 9). What disease(s) is it linked to if pathogenic? | pathogenic; ['Bardet-Biedl_syndrome', 'Bardet-Biedl_syndrome_9'] | GAAGTCTCAGAGCCCCAAAGAGGGCCCACCCATCAACCCTTGGATGGCAATGCCTGAGCAAGTCATTAAATGGGAGTTGGCCAGCTAAAGAATAGAGGTTAGGGCATTGTAGCATGAGCGACGGCCATGTGCAGAGGCCTAAGGGAGAGACAGTGTGGGTGCAGGTGGATGGGAACAGAATACAGTGGAGCAAGAGCTGGAGCAGAAAGTTCCTTAAATGCCAGTCTGACCATTTGAATTTAGGAGTTTGTATTAGTCTGTTCTCATGCAGCTATAAGGAAATACCTGAAACTGGGTAATTTATAAAGAAAAGAGGTTTA... | GAAGTCTCAGAGCCCCAAAGAGGGCCCACCCATCAACCCTTGGATGGCAATGCCTGAGCAAGTCATTAAATGGGAGTTGGCCAGCTAAAGAATAGAGGTTAGGGCATTGTAGCATGAGCGACGGCCATGTGCAGAGGCCTAAGGGAGAGACAGTGTGGGTGCAGGTGGATGGGAACAGAATACAGTGGAGCAAGAGCTGGAGCAGAAAGTTCCTTAAATGCCAGTCTGACCATTTGAATTTAGGAGTTTGTATTAGTCTGTTCTCATGCAGCTATAAGGAAATACCTGAAACTGGGTAATTTATAAAGAAAAGAGGTTTA... | pathogenic | 117,687 |
For chromosome 7, position 35240915, gene TBX20 (T-box transcription factor 20): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Cardiovascular_phenotype'] | CTATCTCATTAATACACCACTAAAATTTTAAAATACAAATGGTGACAAATTCTTTTTTTGACATTTCTGAGACAGCCCCATCATAACCACATGTCTTATTTACAGAGCACCTTACAGCTTCCAAAGGCTTAAACAAGCCTACACACACAACTACATTTGATCTTCACAGCAATCCCCTAAAATGGTCTGGTCAGTTCTTGGCCCTAATATCTAGGTAAGGAAAACAGCAGCCACTGGTGAAATGAAATCTACTCAAAGTTGTATAGAAATCCTAGGAGAGTAAGCCTTACATACATCCACTCTGGCCATCTGCCCACATC... | CTATCTCATTAATACACCACTAAAATTTTAAAATACAAATGGTGACAAATTCTTTTTTTGACATTTCTGAGACAGCCCCATCATAACCACATGTCTTATTTACAGAGCACCTTACAGCTTCCAAAGGCTTAAACAAGCCTACACACACAACTACATTTGATCTTCACAGCAATCCCCTAAAATGGTCTGGTCAGTTCTTGGCCCTAATATCTAGGTAAGGAAAACAGCAGCCACTGGTGAAATGAAATCTACTCAAAGTTGTATAGAAATCCTAGGAGAGTAAGCCTTACATACATCCACTCTGGCCATCTGCCCACATC... | pathogenic | 117,734 |
Clinical significance of chromosome 7, position 35240994, gene TBX20 (T-box transcription factor 20): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Cardiovascular_phenotype'] | ATCATAACCACATGTCTTATTTACAGAGCACCTTACAGCTTCCAAAGGCTTAAACAAGCCTACACACACAACTACATTTGATCTTCACAGCAATCCCCTAAAATGGTCTGGTCAGTTCTTGGCCCTAATATCTAGGTAAGGAAAACAGCAGCCACTGGTGAAATGAAATCTACTCAAAGTTGTATAGAAATCCTAGGAGAGTAAGCCTTACATACATCCACTCTGGCCATCTGCCCACATCCCTTTTCCAGGCTTCTACTACCTCATTTGTGTGAGGCTGGCTGTGATGTCAGCTTCATCTTGCCTTTCCCGAGGGTCTC... | ATCATAACCACATGTCTTATTTACAGAGCACCTTACAGCTTCCAAAGGCTTAAACAAGCCTACACACACAACTACATTTGATCTTCACAGCAATCCCCTAAAATGGTCTGGTCAGTTCTTGGCCCTAATATCTAGGTAAGGAAAACAGCAGCCACTGGTGAAATGAAATCTACTCAAAGTTGTATAGAAATCCTAGGAGAGTAAGCCTTACATACATCCACTCTGGCCATCTGCCCACATCCCTTTTCCAGGCTTCTACTACCTCATTTGTGTGAGGCTGGCTGTGATGTCAGCTTCATCTTGCCTTTCCCGAGGGTCTC... | pathogenic | 117,739 |
Chromosome 7, position 35241049, gene TBX20 (T-box transcription factor 20): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | benign | AAGCCTACACACACAACTACATTTGATCTTCACAGCAATCCCCTAAAATGGTCTGGTCAGTTCTTGGCCCTAATATCTAGGTAAGGAAAACAGCAGCCACTGGTGAAATGAAATCTACTCAAAGTTGTATAGAAATCCTAGGAGAGTAAGCCTTACATACATCCACTCTGGCCATCTGCCCACATCCCTTTTCCAGGCTTCTACTACCTCATTTGTGTGAGGCTGGCTGTGATGTCAGCTTCATCTTGCCTTTCCCGAGGGTCTCCACACCACCTCGCTTTCAGGTGACCATCCTCCCCGGGACTCTGAGCCATCTACCA... | AAGCCTACACACACAACTACATTTGATCTTCACAGCAATCCCCTAAAATGGTCTGGTCAGTTCTTGGCCCTAATATCTAGGTAAGGAAAACAGCAGCCACTGGTGAAATGAAATCTACTCAAAGTTGTATAGAAATCCTAGGAGAGTAAGCCTTACATACATCCACTCTGGCCATCTGCCCACATCCCTTTTCCAGGCTTCTACTACCTCATTTGTGTGAGGCTGGCTGTGATGTCAGCTTCATCTTGCCTTTCCCGAGGGTCTCCACACCACCTCGCTTTCAGGTGACCATCCTCCCCGGGACTCTGAGCCATCTACCA... | benign | 117,740 |
Is the genetic change at chromosome 7, position 35248803, within gene TBX20 (T-box transcription factor 20) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Cardiovascular_phenotype'] | AGTTCTTCGTTTTTCTCTTATGGAGATAGATAAGTAGCAAACTATTTATTTTAATAATAATAAAGAATAGTTGCTAAATTATCTATTTTTTATCCCATAATAAGCTAAACATTTTTATTTAATATCAATCTAAAAAAGCTGAACTAGGATTAATGAAAAAATATACAGGAAGCCCCTCCTCTCAAGTCCCCCAGAGACTTAAAATTCCAGCAATAGCTTAAACATGCTTCAGTTAAGATAGTGTATTGGTACACACTTTTTTTCTCCAACCAGAACAGATTAGTAACATAAACAAGGCATGTCATATTTCCAAAGTCCTG... | AGTTCTTCGTTTTTCTCTTATGGAGATAGATAAGTAGCAAACTATTTATTTTAATAATAATAAAGAATAGTTGCTAAATTATCTATTTTTTATCCCATAATAAGCTAAACATTTTTATTTAATATCAATCTAAAAAAGCTGAACTAGGATTAATGAAAAAATATACAGGAAGCCCCTCCTCTCAAGTCCCCCAGAGACTTAAAATTCCAGCAATAGCTTAAACATGCTTCAGTTAAGATAGTGTATTGGTACACACTTTTTTTCTCCAACCAGAACAGATTAGTAACATAAACAAGGCATGTCATATTTCCAAAGTCCTG... | pathogenic | 117,751 |
Variant on chromosome 7, at position 35248846, affecting TBX20 (T-box transcription factor 20): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | benign | ATTTATTTTAATAATAATAAAGAATAGTTGCTAAATTATCTATTTTTTATCCCATAATAAGCTAAACATTTTTATTTAATATCAATCTAAAAAAGCTGAACTAGGATTAATGAAAAAATATACAGGAAGCCCCTCCTCTCAAGTCCCCCAGAGACTTAAAATTCCAGCAATAGCTTAAACATGCTTCAGTTAAGATAGTGTATTGGTACACACTTTTTTTCTCCAACCAGAACAGATTAGTAACATAAACAAGGCATGTCATATTTCCAAAGTCCTGCTGGCCTGCATCAGCTCCCCATACCTTCAGATAGGAAGAAAAT... | ATTTATTTTAATAATAATAAAGAATAGTTGCTAAATTATCTATTTTTTATCCCATAATAAGCTAAACATTTTTATTTAATATCAATCTAAAAAAGCTGAACTAGGATTAATGAAAAAATATACAGGAAGCCCCTCCTCTCAAGTCCCCCAGAGACTTAAAATTCCAGCAATAGCTTAAACATGCTTCAGTTAAGATAGTGTATTGGTACACACTTTTTTTCTCCAACCAGAACAGATTAGTAACATAAACAAGGCATGTCATATTTCCAAAGTCCTGCTGGCCTGCATCAGCTCCCCATACCTTCAGATAGGAAGAAAAT... | benign | 117,752 |
Assess the variant on chromosome 7, position 36407740, impacting ANLN (anillin, actin binding protein): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | benign | GGATGTTTAAGTTAATTAAAATGAAATAACATGTAGTTTATTAGCTGCTCTAGCCACATTTCAAGTGCTCATTAGTCACAAGTGGCTAATGGTTACTGTATTGAACAATCAAACATTCTGTTGTACAGCAATGGTCTAATCCATTTTTAAAACAAAAAGTTTCTGTGAGATACATAATCTTAAATTGTGCAATGTTATATATACCACCATTAATTCATTCTAAAAATATAACCTATCTTATTCATGATCCATTGAAAAATGGAAAAAATAGATCTAATAGTTTTTTTTTAATTTCGGATTTAATATCATTTGATTTAAAA... | GGATGTTTAAGTTAATTAAAATGAAATAACATGTAGTTTATTAGCTGCTCTAGCCACATTTCAAGTGCTCATTAGTCACAAGTGGCTAATGGTTACTGTATTGAACAATCAAACATTCTGTTGTACAGCAATGGTCTAATCCATTTTTAAAACAAAAAGTTTCTGTGAGATACATAATCTTAAATTGTGCAATGTTATATATACCACCATTAATTCATTCTAAAAATATAACCTATCTTATTCATGATCCATTGAAAAATGGAAAAAATAGATCTAATAGTTTTTTTTTAATTTCGGATTTAATATCATTTGATTTAAAA... | benign | 117,789 |
Variant on chromosome 7, at position 37894544, affecting NME8 (NME/NM23 family member 8): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | benign | TAATTATATACACAGATATGTACACACACACACCTACATACACACACGTGTAGACATGCTTATCTTTGCCTAACTTCTGTATCTATCACTTTCCCTATTGACTTCTCTTTCTTTATTTTGCTTTCCTTTACTTGGCTATTTTTACTTCTGTTCTCTATGTCCTTCTCTGTATTTTAAGTTACATTAGACACCTAGTTTATTTCTGTTATTTTATCTTTGTCTTTCGTGAGTGCAGCTTTTATTTCACATCTACTTATTGCTTGGCCATTTCTGGTTTTGAGTTTGAAGTTCTGATTTATGATTTATGATTTTTTTAATGT... | TAATTATATACACAGATATGTACACACACACACCTACATACACACACGTGTAGACATGCTTATCTTTGCCTAACTTCTGTATCTATCACTTTCCCTATTGACTTCTCTTTCTTTATTTTGCTTTCCTTTACTTGGCTATTTTTACTTCTGTTCTCTATGTCCTTCTCTGTATTTTAAGTTACATTAGACACCTAGTTTATTTCTGTTATTTTATCTTTGTCTTTCGTGAGTGCAGCTTTTATTTCACATCTACTTATTGCTTGGCCATTTCTGGTTTTGAGTTTGAAGTTCTGATTTATGATTTATGATTTTTTTAATGT... | benign | 117,864 |
Considering the variant on chromosome 7, location 38726273, involving gene VPS41 (VPS41 subunit of HOPS complex), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | benign | CTGAAATTAGCAAATCCTATTGATGATCTTAAAGTAAACTTTTCTGGAAATGAGCTTGCTCAAATCATAAGTGAGGATTAATGTAAATGTAATAAACTGAATCTGTAAATTGGTAATGTTGAAAAGAAAAAACAATTGGGTAAGAACAAAACTGAAAACTAGCAGTGTAGCAGAAAGCACACTAGTCTTGGGATAAGGAAATGCTGAGAAGGCTGAGGGGTACATTCAATAATAACAAAGAGCCTTCCAGTTCTAAGTATTTGTGACTAACAACAACAAAAAAATCTGTTGTTTGCTAGAGAATTCTTAACTCTAATGTG... | CTGAAATTAGCAAATCCTATTGATGATCTTAAAGTAAACTTTTCTGGAAATGAGCTTGCTCAAATCATAAGTGAGGATTAATGTAAATGTAATAAACTGAATCTGTAAATTGGTAATGTTGAAAAGAAAAAACAATTGGGTAAGAACAAAACTGAAAACTAGCAGTGTAGCAGAAAGCACACTAGTCTTGGGATAAGGAAATGCTGAGAAGGCTGAGGGGTACATTCAATAATAACAAAGAGCCTTCCAGTTCTAAGTATTTGTGACTAACAACAACAAAAAAATCTGTTGTTTGCTAGAGAATTCTTAACTCTAATGTG... | benign | 117,881 |
Is the chromosome 7, position 39950820 variant in CDK13 (cyclin dependent kinase 13) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Congenital_heart_defects,_dysmorphic_facial_features,_and_intellectual_developmental_disorder', 'Inborn_genetic_diseases'] | TTTAGATATGAAGGTGAAAGTGGGTGAAGTACTAAGAGGGCAGTCCTCATTCGCACAAGATGTTTTTATTTCAAGCCTCCTGAGAATTTGGAATTTTCAGTAGTTCCTTTTAACATTCCACTTATTTCCTGTATTGATTTAAAGCTTTAAAAATTTTTATTTTAAAGTAAATAGTGTTACCGAAGCTTGAGCTGTGATTCCCAAGTGTGTTTTTTAGGATAAGAAGGGGCCTCGCGGAAGTTGCGGTGAGCCGAGATCGCACCATTGCACTCCAGCCTGGGCAACGAGAGCGAAACTCAGTCTCAAAAAAAAAAAAAAAA... | TTTAGATATGAAGGTGAAAGTGGGTGAAGTACTAAGAGGGCAGTCCTCATTCGCACAAGATGTTTTTATTTCAAGCCTCCTGAGAATTTGGAATTTTCAGTAGTTCCTTTTAACATTCCACTTATTTCCTGTATTGATTTAAAGCTTTAAAAATTTTTATTTTAAAGTAAATAGTGTTACCGAAGCTTGAGCTGTGATTCCCAAGTGTGTTTTTTAGGATAAGAAGGGGCCTCGCGGAAGTTGCGGTGAGCCGAGATCGCACCATTGCACTCCAGCCTGGGCAACGAGAGCGAAACTCAGTCTCAAAAAAAAAAAAAAAA... | pathogenic | 117,888 |
Clinical significance of chromosome 7, position 39951117, gene CDK13: benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['CDK13-related_disorder', 'Congenital_heart_defects,_dysmorphic_facial_features,_and_intellectual_developmental_disorder', 'Inborn_genetic_diseases'] | CAGTCTCAAAAAAAAAAAAAAAAAAAATGGGGCCTCGAACTTTGGCGTACGTGAGACAAGTTAAACCAACGCCATCTCCACCCTGTTTTGCGGGGTGTTTTCTCTCCTTTCGCAGCTGTTCCACTCCCAGGGCTTGACTGAAGGTACACGGGGGGTAACTGCCTACTCCAGAAGGCCACCAACAGCATTATTTCCCTCGCAGTCTCCAGAAACACTTGTTCTCACTGTGACCTTTCGCTCAACAGGCAGGCAGTGCGGCGTCTGCAGAGCCGGAACCGGCACTGCGCGCTGGACGCAAGCAACAAGCACGACAGGCGCGC... | CAGTCTCAAAAAAAAAAAAAAAAAAAATGGGGCCTCGAACTTTGGCGTACGTGAGACAAGTTAAACCAACGCCATCTCCACCCTGTTTTGCGGGGTGTTTTCTCTCCTTTCGCAGCTGTTCCACTCCCAGGGCTTGACTGAAGGTACACGGGGGGTAACTGCCTACTCCAGAAGGCCACCAACAGCATTATTTCCCTCGCAGTCTCCAGAAACACTTGTTCTCACTGTGACCTTTCGCTCAACAGGCAGGCAGTGCGGCGTCTGCAGAGCCGGAACCGGCACTGCGCGCTGGACGCAAGCAACAAGCACGACAGGCGCGC... | pathogenic | 117,893 |
Determine if the mutation at chromosome 7, position 39951162 in gene CDK13 (cyclin dependent kinase 13) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Inborn_genetic_diseases'] | CGTACGTGAGACAAGTTAAACCAACGCCATCTCCACCCTGTTTTGCGGGGTGTTTTCTCTCCTTTCGCAGCTGTTCCACTCCCAGGGCTTGACTGAAGGTACACGGGGGGTAACTGCCTACTCCAGAAGGCCACCAACAGCATTATTTCCCTCGCAGTCTCCAGAAACACTTGTTCTCACTGTGACCTTTCGCTCAACAGGCAGGCAGTGCGGCGTCTGCAGAGCCGGAACCGGCACTGCGCGCTGGACGCAAGCAACAAGCACGACAGGCGCGCCACCACGGGCAGAGTCTCAAGCAACAGCAGTGGGCGGCACACGAA... | CGTACGTGAGACAAGTTAAACCAACGCCATCTCCACCCTGTTTTGCGGGGTGTTTTCTCTCCTTTCGCAGCTGTTCCACTCCCAGGGCTTGACTGAAGGTACACGGGGGGTAACTGCCTACTCCAGAAGGCCACCAACAGCATTATTTCCCTCGCAGTCTCCAGAAACACTTGTTCTCACTGTGACCTTTCGCTCAACAGGCAGGCAGTGCGGCGTCTGCAGAGCCGGAACCGGCACTGCGCGCTGGACGCAAGCAACAAGCACGACAGGCGCGCCACCACGGGCAGAGTCTCAAGCAACAGCAGTGGGCGGCACACGAA... | pathogenic | 117,896 |
Does the variant impacting MPLKIP (M-phase specific PLK1 interacting protein) on chromosome 7, position 40134340, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic | CTTGGATTGATGGAGATGAGAGATGTTCTTTTTGCAATGGAAGTGATTTGAGGCTGCTGGTAGCTATCTTCTTTGGCCTCAAGAGAAACTAACTCCATAATGCTAAGAGGTATAGAGAAATTCAGATAGAACACTTTGATTTAGCAATGCATGGTCTATTCTTGCCTTTTCCAGTTAAATGAGTATAAAGTTATGCTTAAATGGGTTTCTGGGGCTTCAAGTTTTAATGCATTTTAACAGAAGCATTAGATAAAATGAGTATGAACAGAACTCTGTTATTCTCATCCTCATTATTTACGAACAAATACAGAGCTGTCTAC... | CTTGGATTGATGGAGATGAGAGATGTTCTTTTTGCAATGGAAGTGATTTGAGGCTGCTGGTAGCTATCTTCTTTGGCCTCAAGAGAAACTAACTCCATAATGCTAAGAGGTATAGAGAAATTCAGATAGAACACTTTGATTTAGCAATGCATGGTCTATTCTTGCCTTTTCCAGTTAAATGAGTATAAAGTTATGCTTAAATGGGTTTCTGGGGCTTCAAGTTTTAATGCATTTTAACAGAAGCATTAGATAAAATGAGTATGAACAGAACTCTGTTATTCTCATCCTCATTATTTACGAACAAATACAGAGCTGTCTAC... | pathogenic | 117,958 |
Variant chromosome 7, position 41960988, gene GLI3 (GLI family zinc finger 3): benign or pathogenic? Disease(s)? | benign | CAGGGACACCACTAAACATTCTATAGTACTTAAGACAGTGCCCTACAACAAAGAATTATCCAGCCCCAAATGCCAGTAGTAGAATGTCTAAGAAGCCCCACGATAGGCACTTCAGATGGACAGTGCCCCAAGCTGAACTTCCCCTTGAACATCTTCCATTATGAGTTGCCATTGCATCCTGTTTCCCTGTCTGCCTCTCCCACTGGGCTGGGAGCTCATGGATATGAACTGTGTTTTATTCATCTCCTCATCTCCAGTCCCTATAAGAGAATATGAATGGAATATTAGATACTCAGGCAGCAAGGTTGAATTAATGGAAC... | CAGGGACACCACTAAACATTCTATAGTACTTAAGACAGTGCCCTACAACAAAGAATTATCCAGCCCCAAATGCCAGTAGTAGAATGTCTAAGAAGCCCCACGATAGGCACTTCAGATGGACAGTGCCCCAAGCTGAACTTCCCCTTGAACATCTTCCATTATGAGTTGCCATTGCATCCTGTTTCCCTGTCTGCCTCTCCCACTGGGCTGGGAGCTCATGGATATGAACTGTGTTTTATTCATCTCCTCATCTCCAGTCCCTATAAGAGAATATGAATGGAATATTAGATACTCAGGCAGCAAGGTTGAATTAATGGAAC... | benign | 117,971 |
Classify the chromosome 7 variant at position 41964064 affecting gene GLI3 (GLI family zinc finger 3) as benign or pathogenic. If pathogenic, which disease(s) is associated? | benign | TAACCTGAAACCATAGGAAAGAGCAGAAGCACAAGACAACAACAGTGGTGGGCCGGATCACTGTGCATCCCTCCAGGAAGGACAAAGCTGATACAGGAAATAATGGTAACTGAGAAATGGAGGTTGCATCCGAGAATACTACTGGAAGAGCCCTCTGATGGAGGAGGTCAGCATGGTCCCTTCCACCCAAGCTCCTTTCTTAGGAGGAGTGGAGAACACTCAGGCCCCATGCTTTGAAAACAAGAGTTGGAAAGGGATTGAACCAAACCATTAGAGCACACAAGATAAGACTGGAGATTTGGAGATTTGTGGAAAAGTGA... | TAACCTGAAACCATAGGAAAGAGCAGAAGCACAAGACAACAACAGTGGTGGGCCGGATCACTGTGCATCCCTCCAGGAAGGACAAAGCTGATACAGGAAATAATGGTAACTGAGAAATGGAGGTTGCATCCGAGAATACTACTGGAAGAGCCCTCTGATGGAGGAGGTCAGCATGGTCCCTTCCACCCAAGCTCCTTTCTTAGGAGGAGTGGAGAACACTCAGGCCCCATGCTTTGAAAACAAGAGTTGGAAAGGGATTGAACCAAACCATTAGAGCACACAAGATAAGACTGGAGATTTGGAGATTTGTGGAAAAGTGA... | benign | 117,977 |
Does the variant impacting GLI3 (GLI family zinc finger 3) on chromosome 7, position 41964641, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Greig_cephalopolysyndactyly_syndrome', 'Pallister-Hall_syndrome'] | CTAATAGTCTTAGCCAAAGTCCCCAGTGGCAAATCAACCTCCATGCGGAGATTCTTGGTCCAAATGAAAGAACATAAACATGAGAAAAGTGGGCTGGTCTTAACACTCTTTCTATTATCTAACACTTTATTTTACTTGATTTTGTCTTTCTACTGTAATTTAAATGGCAAGATTAAAGGGGAAAAGCCACATAATTGAATTATCAATCACTTGCAGTAAATCCAATTCCAGGGGTCAATGGGACAGAATACAGCAGGTAGCCTGAGGTGTTAATATTTTAACAGTTTATATAATTTTTTAAAGCAATATGCTGGAAAATC... | CTAATAGTCTTAGCCAAAGTCCCCAGTGGCAAATCAACCTCCATGCGGAGATTCTTGGTCCAAATGAAAGAACATAAACATGAGAAAAGTGGGCTGGTCTTAACACTCTTTCTATTATCTAACACTTTATTTTACTTGATTTTGTCTTTCTACTGTAATTTAAATGGCAAGATTAAAGGGGAAAAGCCACATAATTGAATTATCAATCACTTGCAGTAAATCCAATTCCAGGGGTCAATGGGACAGAATACAGCAGGTAGCCTGAGGTGTTAATATTTTAACAGTTTATATAATTTTTTAAAGCAATATGCTGGAAAATC... | pathogenic | 117,988 |
Considering the genetic mutation at chromosome 7, position 41964900, impacting GLI3 (GLI family zinc finger 3): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Greig_cephalopolysyndactyly_syndrome', 'Pallister-Hall_syndrome'] | GCCTGAGGTGTTAATATTTTAACAGTTTATATAATTTTTTAAAGCAATATGCTGGAAAATCCATGTACTCTTTGTGCACACACAGTATGACTTTTATGTGTATCAAATGCACGTGGGGAGTAGCTGCACTTCAAAAATCTTTAAATGTTTTAATCCAAAACAAAAGTACAGATCCAGTCCACATTAAGGACTAACTGCATGTAACATTTAACTTCGTGAATGGATGCAGCATTCAATAGACAGGGTGTGAAAAAAGGCATCCACACAGCTACTAAACATCTTCCCTAGTGCTCTCAAATACTAAAAATGGCTGAAGCAAT... | GCCTGAGGTGTTAATATTTTAACAGTTTATATAATTTTTTAAAGCAATATGCTGGAAAATCCATGTACTCTTTGTGCACACACAGTATGACTTTTATGTGTATCAAATGCACGTGGGGAGTAGCTGCACTTCAAAAATCTTTAAATGTTTTAATCCAAAACAAAAGTACAGATCCAGTCCACATTAAGGACTAACTGCATGTAACATTTAACTTCGTGAATGGATGCAGCATTCAATAGACAGGGTGTGAAAAAAGGCATCCACACAGCTACTAAACATCTTCCCTAGTGCTCTCAAATACTAAAAATGGCTGAAGCAAT... | pathogenic | 117,991 |
Regarding the variant at chromosome 7 and position 41965055, affecting gene GLI3 (GLI family zinc finger 3): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Greig_cephalopolysyndactyly_syndrome', 'Pallister-Hall_syndrome'] | CAAAACAAAAGTACAGATCCAGTCCACATTAAGGACTAACTGCATGTAACATTTAACTTCGTGAATGGATGCAGCATTCAATAGACAGGGTGTGAAAAAAGGCATCCACACAGCTACTAAACATCTTCCCTAGTGCTCTCAAATACTAAAAATGGCTGAAGCAATTTATTCCCACTATGTGGGCTTTCTCTTTTACAACTAAGTTTTATAAATCCCTCAAAATAAGGTATTTAGAATGGAAATCCTCCCTCACTATAGTGGAATTAATAAATGTTACTGATACAGCCGCTTGTGGGGTTGTTTAAATACCTATATACTTA... | CAAAACAAAAGTACAGATCCAGTCCACATTAAGGACTAACTGCATGTAACATTTAACTTCGTGAATGGATGCAGCATTCAATAGACAGGGTGTGAAAAAAGGCATCCACACAGCTACTAAACATCTTCCCTAGTGCTCTCAAATACTAAAAATGGCTGAAGCAATTTATTCCCACTATGTGGGCTTTCTCTTTTACAACTAAGTTTTATAAATCCCTCAAAATAAGGTATTTAGAATGGAAATCCTCCCTCACTATAGTGGAATTAATAAATGTTACTGATACAGCCGCTTGTGGGGTTGTTTAAATACCTATATACTTA... | pathogenic | 117,996 |
Is the variant located on chromosome 7 at position 41965198, gene GLI3 (GLI family zinc finger 3), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Greig_cephalopolysyndactyly_syndrome', 'Pallister-Hall_syndrome'] | TACTAAAAATGGCTGAAGCAATTTATTCCCACTATGTGGGCTTTCTCTTTTACAACTAAGTTTTATAAATCCCTCAAAATAAGGTATTTAGAATGGAAATCCTCCCTCACTATAGTGGAATTAATAAATGTTACTGATACAGCCGCTTGTGGGGTTGTTTAAATACCTATATACTTAGAGCTATATATAATCAATTCTCAGTTAAAATGGGAAAGAGATGGAACTAATCAACAAACACAGCAACTCATAAATATTCCCCCAACTAATTCTACCCAATTGCTTCAATCTACCATCTATCTAACTTCTTACCAGAACAGATA... | TACTAAAAATGGCTGAAGCAATTTATTCCCACTATGTGGGCTTTCTCTTTTACAACTAAGTTTTATAAATCCCTCAAAATAAGGTATTTAGAATGGAAATCCTCCCTCACTATAGTGGAATTAATAAATGTTACTGATACAGCCGCTTGTGGGGTTGTTTAAATACCTATATACTTAGAGCTATATATAATCAATTCTCAGTTAAAATGGGAAAGAGATGGAACTAATCAACAAACACAGCAACTCATAAATATTCCCCCAACTAATTCTACCCAATTGCTTCAATCTACCATCTATCTAACTTCTTACCAGAACAGATA... | pathogenic | 118,003 |
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