question stringlengths 84 268 | answer stringlengths 6 879 | reference_sequence stringlengths 4.1k 4.1k | mutated_sequence stringlengths 4.1k 4.1k | cleaned_pathogenicity stringclasses 2
values | __index_level_0__ int64 67 343k |
|---|---|---|---|---|---|
Does the chromosome 11 mutation at position 22221100 within gene ANO5 (anoctamin 5) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['ANO5-related_disorder', 'ANO5-related_muscular_dystrophy', 'Achilles_tendon_contracture', 'Autosomal_recessive_limb-girdle_muscular_dystrophy', 'Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2L', 'Elevated_circulating_creatine_kinase_concentration', 'Gnathodiaphyseal_dysplasia', 'Intellectual_di... | ATTCAGTTATATGTGACAGAATTATCAGATTTTTCTGCCTCAACCTTAACTGATTTTTATTAGTAGTCCTGAGACATGTCTCTCATGCTGACTTACAAGGCTCCCAGTGATTTTTTTCCCATATTTAAAACAGATTTACAGTGTATCATCAGGGTGTGATATAATGATAGAAATTTGTGTTTTCCTAGCTAGCCTTTGGCTTTCAGAAGGACAGTATGTATACCTATTTTTGACTGAGCACTCCGGAAAATCACTGGAATTACTATTCTCTTAGCTACTTTGTCTGTTTTCTTGCTGTCGAATACTCTGAATATGAGTTT... | ATTCAGTTATATGTGACAGAATTATCAGATTTTTCTGCCTCAACCTTAACTGATTTTTATTAGTAGTCCTGAGACATGTCTCTCATGCTGACTTACAAGGCTCCCAGTGATTTTTTTCCCATATTTAAAACAGATTTACAGTGTATCATCAGGGTGTGATATAATGATAGAAATTTGTGTTTTCCTAGCTAGCCTTTGGCTTTCAGAAGGACAGTATGTATACCTATTTTTGACTGAGCACTCCGGAAAATCACTGGAATTACTATTCTCTTAGCTACTTTGTCTGTTTTCTTGCTGTCGAATACTCTGAATATGAGTTT... | pathogenic | 173,721 |
Variant in ANO5 (anoctamin 5), chromosome 11, position 22221109—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy'] | TATGTGACAGAATTATCAGATTTTTCTGCCTCAACCTTAACTGATTTTTATTAGTAGTCCTGAGACATGTCTCTCATGCTGACTTACAAGGCTCCCAGTGATTTTTTTCCCATATTTAAAACAGATTTACAGTGTATCATCAGGGTGTGATATAATGATAGAAATTTGTGTTTTCCTAGCTAGCCTTTGGCTTTCAGAAGGACAGTATGTATACCTATTTTTGACTGAGCACTCCGGAAAATCACTGGAATTACTATTCTCTTAGCTACTTTGTCTGTTTTCTTGCTGTCGAATACTCTGAATATGAGTTTTGTTAATTC... | TATGTGACAGAATTATCAGATTTTTCTGCCTCAACCTTAACTGATTTTTATTAGTAGTCCTGAGACATGTCTCTCATGCTGACTTACAAGGCTCCCAGTGATTTTTTTCCCATATTTAAAACAGATTTACAGTGTATCATCAGGGTGTGATATAATGATAGAAATTTGTGTTTTCCTAGCTAGCCTTTGGCTTTCAGAAGGACAGTATGTATACCTATTTTTGACTGAGCACTCCGGAAAATCACTGGAATTACTATTCTCTTAGCTACTTTGTCTGTTTTCTTGCTGTCGAATACTCTGAATATGAGTTTTGTTAATTC... | pathogenic | 173,722 |
Is the genetic variant on chromosome 11, position 22221121, gene ANO5 (anoctamin 5), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic | TTATCAGATTTTTCTGCCTCAACCTTAACTGATTTTTATTAGTAGTCCTGAGACATGTCTCTCATGCTGACTTACAAGGCTCCCAGTGATTTTTTTCCCATATTTAAAACAGATTTACAGTGTATCATCAGGGTGTGATATAATGATAGAAATTTGTGTTTTCCTAGCTAGCCTTTGGCTTTCAGAAGGACAGTATGTATACCTATTTTTGACTGAGCACTCCGGAAAATCACTGGAATTACTATTCTCTTAGCTACTTTGTCTGTTTTCTTGCTGTCGAATACTCTGAATATGAGTTTTGTTAATTCATACGTGCACAT... | TTATCAGATTTTTCTGCCTCAACCTTAACTGATTTTTATTAGTAGTCCTGAGACATGTCTCTCATGCTGACTTACAAGGCTCCCAGTGATTTTTTTCCCATATTTAAAACAGATTTACAGTGTATCATCAGGGTGTGATATAATGATAGAAATTTGTGTTTTCCTAGCTAGCCTTTGGCTTTCAGAAGGACAGTATGTATACCTATTTTTGACTGAGCACTCCGGAAAATCACTGGAATTACTATTCTCTTAGCTACTTTGTCTGTTTTCTTGCTGTCGAATACTCTGAATATGAGTTTTGTTAATTCATACGTGCACAT... | pathogenic | 173,723 |
A genetic alteration at chromosome 11, position 22225987, in gene ANO5 (anoctamin 5)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2L', 'Gnathodiaphyseal_dysplasia'] | ACTCTGCCCATCTCCTTGTATAAAATCCAATGGTCAAGCCTCAGCCCTCATCTTACTTGACCTATTAGCAATATTTAACACAGTTGATCCTTCCCTTTTCTATTGTGTATGTTCTTCATGTGGCTTCCAGGACTCCACATTATCTTAGTTTTTTTCTTATTTCACTAGTTGCTCCTTCTCAGTCTTTACTTCTCCTAAATCACTTATTATTAAAGTACCTCAGGGCACAGTCCTTAATCCTCACCTTTCCTTATCTTACACTGATGTATTTGATGATTCTGTCTTACAGTTTTAAAATCATATATTTTATGATTTTATAT... | ACTCTGCCCATCTCCTTGTATAAAATCCAATGGTCAAGCCTCAGCCCTCATCTTACTTGACCTATTAGCAATATTTAACACAGTTGATCCTTCCCTTTTCTATTGTGTATGTTCTTCATGTGGCTTCCAGGACTCCACATTATCTTAGTTTTTTTCTTATTTCACTAGTTGCTCCTTCTCAGTCTTTACTTCTCCTAAATCACTTATTATTAAAGTACCTCAGGGCACAGTCCTTAATCCTCACCTTTCCTTATCTTACACTGATGTATTTGATGATTCTGTCTTACAGTTTTAAAATCATATATTTTATGATTTTATAT... | pathogenic | 173,730 |
Determine if the mutation at chromosome 11, position 22225988 in gene ANO5 (anoctamin 5) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Abnormality_of_the_musculature', 'Autosomal_recessive_limb-girdle_muscular_dystrophy', 'Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2L', 'Gnathodiaphyseal_dysplasia', 'Miyoshi_muscular_dystrophy_3'] | CTCTGCCCATCTCCTTGTATAAAATCCAATGGTCAAGCCTCAGCCCTCATCTTACTTGACCTATTAGCAATATTTAACACAGTTGATCCTTCCCTTTTCTATTGTGTATGTTCTTCATGTGGCTTCCAGGACTCCACATTATCTTAGTTTTTTTCTTATTTCACTAGTTGCTCCTTCTCAGTCTTTACTTCTCCTAAATCACTTATTATTAAAGTACCTCAGGGCACAGTCCTTAATCCTCACCTTTCCTTATCTTACACTGATGTATTTGATGATTCTGTCTTACAGTTTTAAAATCATATATTTTATGATTTTATATA... | CTCTGCCCATCTCCTTGTATAAAATCCAATGGTCAAGCCTCAGCCCTCATCTTACTTGACCTATTAGCAATATTTAACACAGTTGATCCTTCCCTTTTCTATTGTGTATGTTCTTCATGTGGCTTCCAGGACTCCACATTATCTTAGTTTTTTTCTTATTTCACTAGTTGCTCCTTCTCAGTCTTTACTTCTCCTAAATCACTTATTATTAAAGTACCTCAGGGCACAGTCCTTAATCCTCACCTTTCCTTATCTTACACTGATGTATTTGATGATTCTGTCTTACAGTTTTAAAATCATATATTTTATGATTTTATATA... | pathogenic | 173,731 |
Does the variant impacting ANO5 (anoctamin 5) on chromosome 11, position 22226040, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2L', 'Gnathodiaphyseal_dysplasia'] | TACTTGACCTATTAGCAATATTTAACACAGTTGATCCTTCCCTTTTCTATTGTGTATGTTCTTCATGTGGCTTCCAGGACTCCACATTATCTTAGTTTTTTTCTTATTTCACTAGTTGCTCCTTCTCAGTCTTTACTTCTCCTAAATCACTTATTATTAAAGTACCTCAGGGCACAGTCCTTAATCCTCACCTTTCCTTATCTTACACTGATGTATTTGATGATTCTGTCTTACAGTTTTAAAATCATATATTTTATGATTTTATATACATTAATCATACAATCCCAGAATTCATTTTTCCAGTCCACATTTCTCTTCCA... | TACTTGACCTATTAGCAATATTTAACACAGTTGATCCTTCCCTTTTCTATTGTGTATGTTCTTCATGTGGCTTCCAGGACTCCACATTATCTTAGTTTTTTTCTTATTTCACTAGTTGCTCCTTCTCAGTCTTTACTTCTCCTAAATCACTTATTATTAAAGTACCTCAGGGCACAGTCCTTAATCCTCACCTTTCCTTATCTTACACTGATGTATTTGATGATTCTGTCTTACAGTTTTAAAATCATATATTTTATGATTTTATATACATTAATCATACAATCCCAGAATTCATTTTTCCAGTCCACATTTCTCTTCCA... | pathogenic | 173,732 |
A genetic variant on chromosome 11, position 22227286, affects the gene ANO5 (anoctamin 5). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | benign | AGTTGAGGCCAGGAGTTCAAGGCCAGCCTGGGCAGATAATGAGACACAGTCTCTATGAAAAAATTTTTTAAAAATTATCCGAGTGTGGAGACACCTTCTTGTAGTCCCAGCTACTCAGGAGGCTAGGGAGGATCACTTGAGCCCAGGAGTGTGATGCTATAATGGGCTGTGATCACAACACTGTACTCCAGCCCGGGTGACAGAGTGAGACCCTGTCACTACAAAACGAACAAACAAACAAATGAAGAACTAAGCACCCAAGTGGTTATTTTCAGTAATGACCTATAGTTAAATGTAAGTTTACTTTTTGCTAAGTGAAG... | AGTTGAGGCCAGGAGTTCAAGGCCAGCCTGGGCAGATAATGAGACACAGTCTCTATGAAAAAATTTTTTAAAAATTATCCGAGTGTGGAGACACCTTCTTGTAGTCCCAGCTACTCAGGAGGCTAGGGAGGATCACTTGAGCCCAGGAGTGTGATGCTATAATGGGCTGTGATCACAACACTGTACTCCAGCCCGGGTGACAGAGTGAGACCCTGTCACTACAAAACGAACAAACAAACAAATGAAGAACTAAGCACCCAAGTGGTTATTTTCAGTAATGACCTATAGTTAAATGTAAGTTTACTTTTTGCTAAGTGAAG... | benign | 173,733 |
Considering the genetic mutation at chromosome 11, position 22227286, impacting ANO5 (anoctamin 5): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | benign | AGTTGAGGCCAGGAGTTCAAGGCCAGCCTGGGCAGATAATGAGACACAGTCTCTATGAAAAAATTTTTTAAAAATTATCCGAGTGTGGAGACACCTTCTTGTAGTCCCAGCTACTCAGGAGGCTAGGGAGGATCACTTGAGCCCAGGAGTGTGATGCTATAATGGGCTGTGATCACAACACTGTACTCCAGCCCGGGTGACAGAGTGAGACCCTGTCACTACAAAACGAACAAACAAACAAATGAAGAACTAAGCACCCAAGTGGTTATTTTCAGTAATGACCTATAGTTAAATGTAAGTTTACTTTTTGCTAAGTGAAG... | AGTTGAGGCCAGGAGTTCAAGGCCAGCCTGGGCAGATAATGAGACACAGTCTCTATGAAAAAATTTTTTAAAAATTATCCGAGTGTGGAGACACCTTCTTGTAGTCCCAGCTACTCAGGAGGCTAGGGAGGATCACTTGAGCCCAGGAGTGTGATGCTATAATGGGCTGTGATCACAACACTGTACTCCAGCCCGGGTGACAGAGTGAGACCCTGTCACTACAAAACGAACAAACAAACAAATGAAGAACTAAGCACCCAAGTGGTTATTTTCAGTAATGACCTATAGTTAAATGTAAGTTTACTTTTTGCTAAGTGAAG... | benign | 173,734 |
Benign or pathogenic: chromosome 11, position 22250250, gene ANO5 (anoctamin 5) variant? Disease(s) if pathogenic? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2L', 'Gnathodiaphyseal_dysplasia', 'Miyoshi_muscular_dystrophy_3'] | TCACACAGTATCTAACACACATCTACCTATCAGATGCTGTGTTAAATGGTGCAGTGCCACAGATCAGTTGAAAGTCTAATAATTAAAATGGACAGGTTAAAAAAGATCATAGATTTAAATATATGGCATATTTTTCTAAAAAATAATACTCAAAAGAAGGCTCTCCCTATATTTGAGCTTTTGTAGAGTGTCTCATGTTATTAGATTTCTCTTATTTTCTTAGTTATGACTAACAAGATAGTTTAAATTAAATATTAAATGTGATTTCAATAATGTATGCATTTTTACCATATTGCAAATCTAAGAAATATCTCCTGCTT... | TCACACAGTATCTAACACACATCTACCTATCAGATGCTGTGTTAAATGGTGCAGTGCCACAGATCAGTTGAAAGTCTAATAATTAAAATGGACAGGTTAAAAAAGATCATAGATTTAAATATATGGCATATTTTTCTAAAAAATAATACTCAAAAGAAGGCTCTCCCTATATTTGAGCTTTTGTAGAGTGTCTCATGTTATTAGATTTCTCTTATTTTCTTAGTTATGACTAACAAGATAGTTTAAATTAAATATTAAATGTGATTTCAATAATGTATGCATTTTTACCATATTGCAAATCTAAGAAATATCTCCTGCTT... | pathogenic | 173,752 |
A genetic variant at chromosome 11, position 22250345, affecting gene ANO5 (anoctamin 5)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy', 'Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2L', 'Gnathodiaphyseal_dysplasia', 'Miyoshi_muscular_dystrophy_3'] | GTTAAAAAAGATCATAGATTTAAATATATGGCATATTTTTCTAAAAAATAATACTCAAAAGAAGGCTCTCCCTATATTTGAGCTTTTGTAGAGTGTCTCATGTTATTAGATTTCTCTTATTTTCTTAGTTATGACTAACAAGATAGTTTAAATTAAATATTAAATGTGATTTCAATAATGTATGCATTTTTACCATATTGCAAATCTAAGAAATATCTCCTGCTTTCTGAGATCCTGAAAGATTATTTCGTTGTTAATCTGTTACTGTTAGATACCCAAGTCCAAAGTTTAGTAAGATAATTTGTATATTTCCACATGTA... | GTTAAAAAAGATCATAGATTTAAATATATGGCATATTTTTCTAAAAAATAATACTCAAAAGAAGGCTCTCCCTATATTTGAGCTTTTGTAGAGTGTCTCATGTTATTAGATTTCTCTTATTTTCTTAGTTATGACTAACAAGATAGTTTAAATTAAATATTAAATGTGATTTCAATAATGTATGCATTTTTACCATATTGCAAATCTAAGAAATATCTCCTGCTTTCTGAGATCCTGAAAGATTATTTCGTTGTTAATCTGTTACTGTTAGATACCCAAGTCCAAAGTTTAGTAAGATAATTTGTATATTTCCACATGTA... | pathogenic | 173,754 |
The mutation impacting ANO5 (anoctamin 5) on chromosome 11 at position 22259623: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2L', 'Gnathodiaphyseal_dysplasia'] | TGGGAGACTCCTACTTTAACTGGGCTCTGTGATATTGACTAGTGCTTGGAGTCTTGACTTAGAGGGGAGATTTTGAATTTCTTTGTGATTTCTTCAATATTACAGGAGATGGAACCTTACATGCCTCTATACACGCGTATTCCATGGTACTTTCTTTCAGGAGCCACAGTGACATTATGGGTGAGCATTTCTTTAAAAATTGCTATAATTTCTTCAACAGGTGATTAAATGAGCTATCTCAACAGTGTTACCTACAATGTCTCTTGAGTCTTTCCTTTCCCTCTCCCTCCCTGGTCTTTTTATCTTGGTTATAGCTCTTA... | TGGGAGACTCCTACTTTAACTGGGCTCTGTGATATTGACTAGTGCTTGGAGTCTTGACTTAGAGGGGAGATTTTGAATTTCTTTGTGATTTCTTCAATATTACAGGAGATGGAACCTTACATGCCTCTATACACGCGTATTCCATGGTACTTTCTTTCAGGAGCCACAGTGACATTATGGGTGAGCATTTCTTTAAAAATTGCTATAATTTCTTCAACAGGTGATTAAATGAGCTATCTCAACAGTGTTACCTACAATGTCTCTTGAGTCTTTCCTTTCCCTCTCCCTCCCTGGTCTTTTTATCTTGGTTATAGCTCTTA... | pathogenic | 173,774 |
A mutation at chromosome position 22259629 on chromosome 11 in gene ANO5 (anoctamin 5): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy', 'Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2L', 'Gnathodiaphyseal_dysplasia'] | ACTCCTACTTTAACTGGGCTCTGTGATATTGACTAGTGCTTGGAGTCTTGACTTAGAGGGGAGATTTTGAATTTCTTTGTGATTTCTTCAATATTACAGGAGATGGAACCTTACATGCCTCTATACACGCGTATTCCATGGTACTTTCTTTCAGGAGCCACAGTGACATTATGGGTGAGCATTTCTTTAAAAATTGCTATAATTTCTTCAACAGGTGATTAAATGAGCTATCTCAACAGTGTTACCTACAATGTCTCTTGAGTCTTTCCTTTCCCTCTCCCTCCCTGGTCTTTTTATCTTGGTTATAGCTCTTATACAAA... | ACTCCTACTTTAACTGGGCTCTGTGATATTGACTAGTGCTTGGAGTCTTGACTTAGAGGGGAGATTTTGAATTTCTTTGTGATTTCTTCAATATTACAGGAGATGGAACCTTACATGCCTCTATACACGCGTATTCCATGGTACTTTCTTTCAGGAGCCACAGTGACATTATGGGTGAGCATTTCTTTAAAAATTGCTATAATTTCTTCAACAGGTGATTAAATGAGCTATCTCAACAGTGTTACCTACAATGTCTCTTGAGTCTTTCCTTTCCCTCTCCCTCCCTGGTCTTTTTATCTTGGTTATAGCTCTTATACAAA... | pathogenic | 173,775 |
Gene ANO5 (anoctamin 5) variant at chromosome position 22259733 on chromosome 11: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2L', 'Gnathodiaphyseal_dysplasia', 'Miyoshi_muscular_dystrophy_3'] | GGAACCTTACATGCCTCTATACACGCGTATTCCATGGTACTTTCTTTCAGGAGCCACAGTGACATTATGGGTGAGCATTTCTTTAAAAATTGCTATAATTTCTTCAACAGGTGATTAAATGAGCTATCTCAACAGTGTTACCTACAATGTCTCTTGAGTCTTTCCTTTCCCTCTCCCTCCCTGGTCTTTTTATCTTGGTTATAGCTCTTATACAAAATAAACTGTAATTTATGTGGATTTTCCATACTTAAACTTTGGGAAAAGATCTTGGGGAAAAGGAGGTACTTTATCTTAAAGCCCGTCCCTCCCTGCCTCACGAC... | GGAACCTTACATGCCTCTATACACGCGTATTCCATGGTACTTTCTTTCAGGAGCCACAGTGACATTATGGGTGAGCATTTCTTTAAAAATTGCTATAATTTCTTCAACAGGTGATTAAATGAGCTATCTCAACAGTGTTACCTACAATGTCTCTTGAGTCTTTCCTTTCCCTCTCCCTCCCTGGTCTTTTTATCTTGGTTATAGCTCTTATACAAAATAAACTGTAATTTATGTGGATTTTCCATACTTAAACTTTGGGAAAAGATCTTGGGGAAAAGGAGGTACTTTATCTTAAAGCCCGTCCCTCCCTGCCTCACGAC... | pathogenic | 173,778 |
Clinical impact (benign or pathogenic) of the variant at chromosome 11, location 22262116, gene ANO5 (anoctamin 5): what disease(s) if pathogenic? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2L', 'Gnathodiaphyseal_dysplasia'] | ATTTTTGTTTCATGTGTATGGTTCTTATAAAGTATTGATTTTGGAAGTTATTGTGAGAAAAACAGAAACATCAGCTTCTCCTAAATAAATCTAAATTTTAGCGCTTTTCTTTTCTACTGCTATCTCTTAGAATTTGGAATATTTTCTTGTTAAAATATTAAAATTTCTACTTCAAGCCACAGGGGAAAGTGAAAGGGGTCACAGGTTAAGTGAGAAATTGAGTTAAGTAGAGCAGCACAGAGCACAGTCGCTTCTGCTCTTTTTCCTGGCAAGTTAGCAGTAAGATCGGAAACTCAAATCAAGGCATCAGCCTCTTCTCT... | ATTTTTGTTTCATGTGTATGGTTCTTATAAAGTATTGATTTTGGAAGTTATTGTGAGAAAAACAGAAACATCAGCTTCTCCTAAATAAATCTAAATTTTAGCGCTTTTCTTTTCTACTGCTATCTCTTAGAATTTGGAATATTTTCTTGTTAAAATATTAAAATTTCTACTTCAAGCCACAGGGGAAAGTGAAAGGGGTCACAGGTTAAGTGAGAAATTGAGTTAAGTAGAGCAGCACAGAGCACAGTCGCTTCTGCTCTTTTTCCTGGCAAGTTAGCAGTAAGATCGGAAACTCAAATCAAGGCATCAGCCTCTTCTCT... | pathogenic | 173,781 |
Considering the genetic mutation at chromosome 11, position 22270405, impacting ANO5 (anoctamin 5): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2L', 'Gnathodiaphyseal_dysplasia'] | TCTACATATAGGTCTTATAAATCTTTTGTCACATCAGTGTCTAGGTACTTTTTAATTGCTATTGTAAATGATATCTTTTTAGAATATATATGTTTTCTACTTGTGTGTTGTGGGTGTATAGGAATGAAATATATTAATAAACCCTAATATTGTTTCTACTCATTTTTGTCTAACTTCACTTGGGTTTTCTATTCAGACAATCACATCACTGTTAATAATCACAGATTTCTCCTTTATTTCCAAATATTTTGCCTTTCTTATTTTATTTTACTGGCTAAGATCTCCAGCAATCTTGAATGTGATCATGCAAGTGCTTATTT... | TCTACATATAGGTCTTATAAATCTTTTGTCACATCAGTGTCTAGGTACTTTTTAATTGCTATTGTAAATGATATCTTTTTAGAATATATATGTTTTCTACTTGTGTGTTGTGGGTGTATAGGAATGAAATATATTAATAAACCCTAATATTGTTTCTACTCATTTTTGTCTAACTTCACTTGGGTTTTCTATTCAGACAATCACATCACTGTTAATAATCACAGATTTCTCCTTTATTTCCAAATATTTTGCCTTTCTTATTTTATTTTACTGGCTAAGATCTCCAGCAATCTTGAATGTGATCATGCAAGTGCTTATTT... | pathogenic | 173,797 |
Mutation at chromosome 11, position 22270414, within ANO5 (anoctamin 5): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy', 'Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2L', 'Gnathodiaphyseal_dysplasia', 'Miyoshi_muscular_dystrophy_3'] | AGGTCTTATAAATCTTTTGTCACATCAGTGTCTAGGTACTTTTTAATTGCTATTGTAAATGATATCTTTTTAGAATATATATGTTTTCTACTTGTGTGTTGTGGGTGTATAGGAATGAAATATATTAATAAACCCTAATATTGTTTCTACTCATTTTTGTCTAACTTCACTTGGGTTTTCTATTCAGACAATCACATCACTGTTAATAATCACAGATTTCTCCTTTATTTCCAAATATTTTGCCTTTCTTATTTTATTTTACTGGCTAAGATCTCCAGCAATCTTGAATGTGATCATGCAAGTGCTTATTTTGTTCTTGA... | AGGTCTTATAAATCTTTTGTCACATCAGTGTCTAGGTACTTTTTAATTGCTATTGTAAATGATATCTTTTTAGAATATATATGTTTTCTACTTGTGTGTTGTGGGTGTATAGGAATGAAATATATTAATAAACCCTAATATTGTTTCTACTCATTTTTGTCTAACTTCACTTGGGTTTTCTATTCAGACAATCACATCACTGTTAATAATCACAGATTTCTCCTTTATTTCCAAATATTTTGCCTTTCTTATTTTATTTTACTGGCTAAGATCTCCAGCAATCTTGAATGTGATCATGCAAGTGCTTATTTTGTTCTTGA... | pathogenic | 173,798 |
Variant at chromosome 11, position 22272922, gene ANO5 (anoctamin 5): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2L', 'Gnathodiaphyseal_dysplasia'] | GCTAAAAGCGATTGTGTAAGGGAAATATAAGCTGAACACAAGAAACATCCAAAACATTGCAAGGTTTGAACAGAGAAGAGACCCTTGAGGAGCAGCTTTCAGAGAGATTTTTCGGGGAACTGCTTATATGGTCTGCTCAGAGCGTTTTCCCTCAAGCAACTTTCTCTGTTTCTCTCGCAGAATTAAGGAAACTGTTTGAGACAGAGTCTCGCTCTGTCGCTCAGGCTGGAGCGCAGCTGCCCAATCTCGGCTCACTGCAGCCTCCGCCTGCTGGGTTCAAGCGATTCTCCTGCTTCAGGAGAATTGCCTGTAGCTGGGAC... | GCTAAAAGCGATTGTGTAAGGGAAATATAAGCTGAACACAAGAAACATCCAAAACATTGCAAGGTTTGAACAGAGAAGAGACCCTTGAGGAGCAGCTTTCAGAGAGATTTTTCGGGGAACTGCTTATATGGTCTGCTCAGAGCGTTTTCCCTCAAGCAACTTTCTCTGTTTCTCTCGCAGAATTAAGGAAACTGTTTGAGACAGAGTCTCGCTCTGTCGCTCAGGCTGGAGCGCAGCTGCCCAATCTCGGCTCACTGCAGCCTCCGCCTGCTGGGTTCAAGCGATTCTCCTGCTTCAGGAGAATTGCCTGTAGCTGGGAC... | pathogenic | 173,801 |
Variant at chromosome 11, position 22272929, gene ANO5 (anoctamin 5): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2L', 'Gnathodiaphyseal_dysplasia'] | GCGATTGTGTAAGGGAAATATAAGCTGAACACAAGAAACATCCAAAACATTGCAAGGTTTGAACAGAGAAGAGACCCTTGAGGAGCAGCTTTCAGAGAGATTTTTCGGGGAACTGCTTATATGGTCTGCTCAGAGCGTTTTCCCTCAAGCAACTTTCTCTGTTTCTCTCGCAGAATTAAGGAAACTGTTTGAGACAGAGTCTCGCTCTGTCGCTCAGGCTGGAGCGCAGCTGCCCAATCTCGGCTCACTGCAGCCTCCGCCTGCTGGGTTCAAGCGATTCTCCTGCTTCAGGAGAATTGCCTGTAGCTGGGACTACAGGT... | GCGATTGTGTAAGGGAAATATAAGCTGAACACAAGAAACATCCAAAACATTGCAAGGTTTGAACAGAGAAGAGACCCTTGAGGAGCAGCTTTCAGAGAGATTTTTCGGGGAACTGCTTATATGGTCTGCTCAGAGCGTTTTCCCTCAAGCAACTTTCTCTGTTTCTCTCGCAGAATTAAGGAAACTGTTTGAGACAGAGTCTCGCTCTGTCGCTCAGGCTGGAGCGCAGCTGCCCAATCTCGGCTCACTGCAGCCTCCGCCTGCTGGGTTCAAGCGATTCTCCTGCTTCAGGAGAATTGCCTGTAGCTGGGACTACAGGT... | pathogenic | 173,803 |
Gene ANO5 (anoctamin 5) variant at chromosome position 22274546 on chromosome 11: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | benign | TAAAAGGCAAAGAGGAATAGAATCTTCCTTGTAACAAGCATATCTCTAAAGGAAGAGCAAAGAAAGAACTCAGCCATGCATGCCCAGTTTCTCCTTCCAGTTCTAGCAAGCAGGTAAGTCACTGTGCCTCCTGTGGTAGAGGAGGAACTGGACAGACGGATGGAAGCCTGGATTGTCGTATTCGTGTGGATCACTCCAAAACGAAGGAAGTAGCAGGATTTGGGCAGGGTGTTCCTGTCTTTCTCCTTCACAATAATGAGTTCATGCCTTTTTCTTTTCTCTACAGTTACTCAATTTGGATTTGTTACACTATTTGTGGC... | TAAAAGGCAAAGAGGAATAGAATCTTCCTTGTAACAAGCATATCTCTAAAGGAAGAGCAAAGAAAGAACTCAGCCATGCATGCCCAGTTTCTCCTTCCAGTTCTAGCAAGCAGGTAAGTCACTGTGCCTCCTGTGGTAGAGGAGGAACTGGACAGACGGATGGAAGCCTGGATTGTCGTATTCGTGTGGATCACTCCAAAACGAAGGAAGTAGCAGGATTTGGGCAGGGTGTTCCTGTCTTTCTCCTTCACAATAATGAGTTCATGCCTTTTTCTTTTCTCTACAGTTACTCAATTTGGATTTGTTACACTATTTGTGGC... | benign | 173,804 |
Does the variant on chromosome 11 at location 22274548 affecting gene ANO5 (anoctamin 5) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | benign | AAAGGCAAAGAGGAATAGAATCTTCCTTGTAACAAGCATATCTCTAAAGGAAGAGCAAAGAAAGAACTCAGCCATGCATGCCCAGTTTCTCCTTCCAGTTCTAGCAAGCAGGTAAGTCACTGTGCCTCCTGTGGTAGAGGAGGAACTGGACAGACGGATGGAAGCCTGGATTGTCGTATTCGTGTGGATCACTCCAAAACGAAGGAAGTAGCAGGATTTGGGCAGGGTGTTCCTGTCTTTCTCCTTCACAATAATGAGTTCATGCCTTTTTCTTTTCTCTACAGTTACTCAATTTGGATTTGTTACACTATTTGTGGCCT... | AAAGGCAAAGAGGAATAGAATCTTCCTTGTAACAAGCATATCTCTAAAGGAAGAGCAAAGAAAGAACTCAGCCATGCATGCCCAGTTTCTCCTTCCAGTTCTAGCAAGCAGGTAAGTCACTGTGCCTCCTGTGGTAGAGGAGGAACTGGACAGACGGATGGAAGCCTGGATTGTCGTATTCGTGTGGATCACTCCAAAACGAAGGAAGTAGCAGGATTTGGGCAGGGTGTTCCTGTCTTTCTCCTTCACAATAATGAGTTCATGCCTTTTTCTTTTCTCTACAGTTACTCAATTTGGATTTGTTACACTATTTGTGGCCT... | benign | 173,805 |
The chromosome 11, position 22274548 genetic variant in gene ANO5 (anoctamin 5): benign or pathogenic? If pathogenic, indicate disease(s). | benign | AAAGGCAAAGAGGAATAGAATCTTCCTTGTAACAAGCATATCTCTAAAGGAAGAGCAAAGAAAGAACTCAGCCATGCATGCCCAGTTTCTCCTTCCAGTTCTAGCAAGCAGGTAAGTCACTGTGCCTCCTGTGGTAGAGGAGGAACTGGACAGACGGATGGAAGCCTGGATTGTCGTATTCGTGTGGATCACTCCAAAACGAAGGAAGTAGCAGGATTTGGGCAGGGTGTTCCTGTCTTTCTCCTTCACAATAATGAGTTCATGCCTTTTTCTTTTCTCTACAGTTACTCAATTTGGATTTGTTACACTATTTGTGGCCT... | AAAGGCAAAGAGGAATAGAATCTTCCTTGTAACAAGCATATCTCTAAAGGAAGAGCAAAGAAAGAACTCAGCCATGCATGCCCAGTTTCTCCTTCCAGTTCTAGCAAGCAGGTAAGTCACTGTGCCTCCTGTGGTAGAGGAGGAACTGGACAGACGGATGGAAGCCTGGATTGTCGTATTCGTGTGGATCACTCCAAAACGAAGGAAGTAGCAGGATTTGGGCAGGGTGTTCCTGTCTTTCTCCTTCACAATAATGAGTTCATGCCTTTTTCTTTTCTCTACAGTTACTCAATTTGGATTTGTTACACTATTTGTGGCCT... | benign | 173,806 |
Evaluate the clinical significance of the mutation at chromosome 11, position 22274548 in gene ANO5 (anoctamin 5): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | benign | AAAGGCAAAGAGGAATAGAATCTTCCTTGTAACAAGCATATCTCTAAAGGAAGAGCAAAGAAAGAACTCAGCCATGCATGCCCAGTTTCTCCTTCCAGTTCTAGCAAGCAGGTAAGTCACTGTGCCTCCTGTGGTAGAGGAGGAACTGGACAGACGGATGGAAGCCTGGATTGTCGTATTCGTGTGGATCACTCCAAAACGAAGGAAGTAGCAGGATTTGGGCAGGGTGTTCCTGTCTTTCTCCTTCACAATAATGAGTTCATGCCTTTTTCTTTTCTCTACAGTTACTCAATTTGGATTTGTTACACTATTTGTGGCCT... | AAAGGCAAAGAGGAATAGAATCTTCCTTGTAACAAGCATATCTCTAAAGGAAGAGCAAAGAAAGAACTCAGCCATGCATGCCCAGTTTCTCCTTCCAGTTCTAGCAAGCAGGTAAGTCACTGTGCCTCCTGTGGTAGAGGAGGAACTGGACAGACGGATGGAAGCCTGGATTGTCGTATTCGTGTGGATCACTCCAAAACGAAGGAAGTAGCAGGATTTGGGCAGGGTGTTCCTGTCTTTCTCCTTCACAATAATGAGTTCATGCCTTTTTCTTTTCTCTACAGTTACTCAATTTGGATTTGTTACACTATTTGTGGCCT... | benign | 173,807 |
Mutation found at chromosome 11 position 22274548, gene ANO5 (anoctamin 5): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | benign | AAAGGCAAAGAGGAATAGAATCTTCCTTGTAACAAGCATATCTCTAAAGGAAGAGCAAAGAAAGAACTCAGCCATGCATGCCCAGTTTCTCCTTCCAGTTCTAGCAAGCAGGTAAGTCACTGTGCCTCCTGTGGTAGAGGAGGAACTGGACAGACGGATGGAAGCCTGGATTGTCGTATTCGTGTGGATCACTCCAAAACGAAGGAAGTAGCAGGATTTGGGCAGGGTGTTCCTGTCTTTCTCCTTCACAATAATGAGTTCATGCCTTTTTCTTTTCTCTACAGTTACTCAATTTGGATTTGTTACACTATTTGTGGCCT... | AAAGGCAAAGAGGAATAGAATCTTCCTTGTAACAAGCATATCTCTAAAGGAAGAGCAAAGAAAGAACTCAGCCATGCATGCCCAGTTTCTCCTTCCAGTTCTAGCAAGCAGGTAAGTCACTGTGCCTCCTGTGGTAGAGGAGGAACTGGACAGACGGATGGAAGCCTGGATTGTCGTATTCGTGTGGATCACTCCAAAACGAAGGAAGTAGCAGGATTTGGGCAGGGTGTTCCTGTCTTTCTCCTTCACAATAATGAGTTCATGCCTTTTTCTTTTCTCTACAGTTACTCAATTTGGATTTGTTACACTATTTGTGGCCT... | benign | 173,808 |
Variant at chromosome position 22274548, chromosome 11, gene ANO5 (anoctamin 5): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | benign | AAAGGCAAAGAGGAATAGAATCTTCCTTGTAACAAGCATATCTCTAAAGGAAGAGCAAAGAAAGAACTCAGCCATGCATGCCCAGTTTCTCCTTCCAGTTCTAGCAAGCAGGTAAGTCACTGTGCCTCCTGTGGTAGAGGAGGAACTGGACAGACGGATGGAAGCCTGGATTGTCGTATTCGTGTGGATCACTCCAAAACGAAGGAAGTAGCAGGATTTGGGCAGGGTGTTCCTGTCTTTCTCCTTCACAATAATGAGTTCATGCCTTTTTCTTTTCTCTACAGTTACTCAATTTGGATTTGTTACACTATTTGTGGCCT... | AAAGGCAAAGAGGAATAGAATCTTCCTTGTAACAAGCATATCTCTAAAGGAAGAGCAAAGAAAGAACTCAGCCATGCATGCCCAGTTTCTCCTTCCAGTTCTAGCAAGCAGGTAAGTCACTGTGCCTCCTGTGGTAGAGGAGGAACTGGACAGACGGATGGAAGCCTGGATTGTCGTATTCGTGTGGATCACTCCAAAACGAAGGAAGTAGCAGGATTTGGGCAGGGTGTTCCTGTCTTTCTCCTTCACAATAATGAGTTCATGCCTTTTTCTTTTCTCTACAGTTACTCAATTTGGATTTGTTACACTATTTGTGGCCT... | benign | 173,809 |
Is the genetic change at chromosome 11, position 22274565, within gene ANO5 (anoctamin 5) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2L', 'Gnathodiaphyseal_dysplasia'] | GAATCTTCCTTGTAACAAGCATATCTCTAAAGGAAGAGCAAAGAAAGAACTCAGCCATGCATGCCCAGTTTCTCCTTCCAGTTCTAGCAAGCAGGTAAGTCACTGTGCCTCCTGTGGTAGAGGAGGAACTGGACAGACGGATGGAAGCCTGGATTGTCGTATTCGTGTGGATCACTCCAAAACGAAGGAAGTAGCAGGATTTGGGCAGGGTGTTCCTGTCTTTCTCCTTCACAATAATGAGTTCATGCCTTTTTCTTTTCTCTACAGTTACTCAATTTGGATTTGTTACACTATTTGTGGCCTCTTTTCCTTTGGCTCCT... | GAATCTTCCTTGTAACAAGCATATCTCTAAAGGAAGAGCAAAGAAAGAACTCAGCCATGCATGCCCAGTTTCTCCTTCCAGTTCTAGCAAGCAGGTAAGTCACTGTGCCTCCTGTGGTAGAGGAGGAACTGGACAGACGGATGGAAGCCTGGATTGTCGTATTCGTGTGGATCACTCCAAAACGAAGGAAGTAGCAGGATTTGGGCAGGGTGTTCCTGTCTTTCTCCTTCACAATAATGAGTTCATGCCTTTTTCTTTTCTCTACAGTTACTCAATTTGGATTTGTTACACTATTTGTGGCCTCTTTTCCTTTGGCTCCT... | pathogenic | 173,810 |
A genetic variant at chromosome 11, position 22276060, affecting gene ANO5 (anoctamin 5)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | benign | GAAATATGCTATTTATACTATTCCAGAACTTAGGAAAGGATACAAAATTATCATTCCCATGGAATCAAATACTGAAATTAATTGCACCCAACTGTGAGAAATTTACAAACACATGATATTCTGCTTCTTCATTCCTTTCCTGTTAATCTCTTACACACACACACACACACACACACACACACCCGCAGTCCTACCTCATTGAGTTAGTCTAAGAAAGTTAATTTGGTTAAAGATAGTAGAACTGTGCTGTGAAACAATAAGAAATGTAAGAAATAGAAAGCCTTGATGGAAAGAACATGGTTCGTAGAGACAGATACATT... | GAAATATGCTATTTATACTATTCCAGAACTTAGGAAAGGATACAAAATTATCATTCCCATGGAATCAAATACTGAAATTAATTGCACCCAACTGTGAGAAATTTACAAACACATGATATTCTGCTTCTTCATTCCTTTCCTGTTAATCTCTTACACACACACACACACACACACACACACACCCGCAGTCCTACCTCATTGAGTTAGTCTAAGAAAGTTAATTTGGTTAAAGATAGTAGAACTGTGCTGTGAAACAATAAGAAATGTAAGAAATAGAAAGCCTTGATGGAAAGAACATGGTTCGTAGAGACAGATACATT... | benign | 173,816 |
Variant at chromosome 11, position 22276148, gene ANO5 (anoctamin 5): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['ANO5-related_disorder', 'Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2L', 'Gnathodiaphyseal_dysplasia'] | CAACTGTGAGAAATTTACAAACACATGATATTCTGCTTCTTCATTCCTTTCCTGTTAATCTCTTACACACACACACACACACACACACACACACCCGCAGTCCTACCTCATTGAGTTAGTCTAAGAAAGTTAATTTGGTTAAAGATAGTAGAACTGTGCTGTGAAACAATAAGAAATGTAAGAAATAGAAAGCCTTGATGGAAAGAACATGGTTCGTAGAGACAGATACATTTCGGTCTGACTCTCTACTTAGCCACTTTGTAGCTATGAAATCTTGGAATACTGATCACACACTGTAAATGAGCTACTTTGTGTTTCAG... | CAACTGTGAGAAATTTACAAACACATGATATTCTGCTTCTTCATTCCTTTCCTGTTAATCTCTTACACACACACACACACACACACACACACACCCGCAGTCCTACCTCATTGAGTTAGTCTAAGAAAGTTAATTTGGTTAAAGATAGTAGAACTGTGCTGTGAAACAATAAGAAATGTAAGAAATAGAAAGCCTTGATGGAAAGAACATGGTTCGTAGAGACAGATACATTTCGGTCTGACTCTCTACTTAGCCACTTTGTAGCTATGAAATCTTGGAATACTGATCACACACTGTAAATGAGCTACTTTGTGTTTCAG... | pathogenic | 173,820 |
Mutation at chromosome 11, position 22276180, within ANO5 (anoctamin 5): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy', 'Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2L', 'Gnathodiaphyseal_dysplasia'] | CTGCTTCTTCATTCCTTTCCTGTTAATCTCTTACACACACACACACACACACACACACACACCCGCAGTCCTACCTCATTGAGTTAGTCTAAGAAAGTTAATTTGGTTAAAGATAGTAGAACTGTGCTGTGAAACAATAAGAAATGTAAGAAATAGAAAGCCTTGATGGAAAGAACATGGTTCGTAGAGACAGATACATTTCGGTCTGACTCTCTACTTAGCCACTTTGTAGCTATGAAATCTTGGAATACTGATCACACACTGTAAATGAGCTACTTTGTGTTTCAGGACAAAGACTTGCATATTACTATGATTTATAA... | CTGCTTCTTCATTCCTTTCCTGTTAATCTCTTACACACACACACACACACACACACACACACCCGCAGTCCTACCTCATTGAGTTAGTCTAAGAAAGTTAATTTGGTTAAAGATAGTAGAACTGTGCTGTGAAACAATAAGAAATGTAAGAAATAGAAAGCCTTGATGGAAAGAACATGGTTCGTAGAGACAGATACATTTCGGTCTGACTCTCTACTTAGCCACTTTGTAGCTATGAAATCTTGGAATACTGATCACACACTGTAAATGAGCTACTTTGTGTTTCAGGACAAAGACTTGCATATTACTATGATTTATAA... | pathogenic | 173,822 |
A genetic variant at chromosome 11, position 22279864, affecting gene ANO5 (anoctamin 5)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | benign | CTTCATCTTGTCTTCTATTGAAGACTAAATTTTCTGCAATCTATGTTTCTCCCATTTTTGGTTTACTAGCTTATTTTGGTGAAGCACATCTTCTAGTAATTTTCTGAGGAAAAATTATGGGCAGTCCATTTTTGAGAAATTGAAGATTGAAAATTTCTTTTCTTTCCTTACATGTGATTATTTGGAATAGAATGTATAATTAAAAGTTGTTTTTCTTAAAAAAATTTTTAATCAACTTTATTTTGGTATTCCTGAAATTTTGAAGATATTGCTTCATTTTCATTCAGCTTCCAGTATTGCTACAAAATGCAATACTATTC... | CTTCATCTTGTCTTCTATTGAAGACTAAATTTTCTGCAATCTATGTTTCTCCCATTTTTGGTTTACTAGCTTATTTTGGTGAAGCACATCTTCTAGTAATTTTCTGAGGAAAAATTATGGGCAGTCCATTTTTGAGAAATTGAAGATTGAAAATTTCTTTTCTTTCCTTACATGTGATTATTTGGAATAGAATGTATAATTAAAAGTTGTTTTTCTTAAAAAAATTTTTAATCAACTTTATTTTGGTATTCCTGAAATTTTGAAGATATTGCTTCATTTTCATTCAGCTTCCAGTATTGCTACAAAATGCAATACTATTC... | benign | 173,828 |
Gene ANO5 (anoctamin 5) variant at chromosome position 22281521 on chromosome 11: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | benign | TTTGTAAAGACTTTCTGCTGAGCATGTGACACCTCTAACAGCGTCTAATCTTTCCTTTATATTTCCTCTAGCATGTTGTGTTTTTAGTTAAATTTTTGCTGGCCTGGATGATACCTGATGTTCCAAAAGATGTTGTGGAGAGAATCAAGAGAGAAAAGTTAATGACTATCAAGATTCTCCATGATTTTGAGCTCAACAAATTAAAAGAGAACTTGGGAATTAATTCTAATGAATTTGCCAAGCATGTCATGATTGAGGAAAACAAAGCACAGCTGGCTAAATCAACACTCTAATCAGTATAGTGAGGAAGCAGCAGGTGA... | TTTGTAAAGACTTTCTGCTGAGCATGTGACACCTCTAACAGCGTCTAATCTTTCCTTTATATTTCCTCTAGCATGTTGTGTTTTTAGTTAAATTTTTGCTGGCCTGGATGATACCTGATGTTCCAAAAGATGTTGTGGAGAGAATCAAGAGAGAAAAGTTAATGACTATCAAGATTCTCCATGATTTTGAGCTCAACAAATTAAAAGAGAACTTGGGAATTAATTCTAATGAATTTGCCAAGCATGTCATGATTGAGGAAAACAAAGCACAGCTGGCTAAATCAACACTCTAATCAGTATAGTGAGGAAGCAGCAGGTGA... | benign | 173,836 |
Variant at chromosome 11, position 22281654, gene ANO5 (anoctamin 5): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | benign | TGTGGAGAGAATCAAGAGAGAAAAGTTAATGACTATCAAGATTCTCCATGATTTTGAGCTCAACAAATTAAAAGAGAACTTGGGAATTAATTCTAATGAATTTGCCAAGCATGTCATGATTGAGGAAAACAAAGCACAGCTGGCTAAATCAACACTCTAATCAGTATAGTGAGGAAGCAGCAGGTGATCTGCCTTACTTCACTTTATCCTCTGGTTTTAGGGCCAGACGCCAGAAGCCATGTGTCAATTTTACCCTTTCTTTTTTTTTTTTTTCTTTTTTTTTTTAAACTCAAAGTTTTTATACACTTTTATAGAGGCCA... | TGTGGAGAGAATCAAGAGAGAAAAGTTAATGACTATCAAGATTCTCCATGATTTTGAGCTCAACAAATTAAAAGAGAACTTGGGAATTAATTCTAATGAATTTGCCAAGCATGTCATGATTGAGGAAAACAAAGCACAGCTGGCTAAATCAACACTCTAATCAGTATAGTGAGGAAGCAGCAGGTGATCTGCCTTACTTCACTTTATCCTCTGGTTTTAGGGCCAGACGCCAGAAGCCATGTGTCAATTTTACCCTTTCTTTTTTTTTTTTTTCTTTTTTTTTTTAAACTCAAAGTTTTTATACACTTTTATAGAGGCCA... | benign | 173,837 |
Classify the chromosome 11 variant at position 22283237 affecting gene ANO5 (anoctamin 5) as benign or pathogenic. If pathogenic, which disease(s) is associated? | benign | CCAAAAGAATAGTTTTTTAATCACACACATAAGAAATTTTATCACAATATTTAAAACTAATATTTCATTATCTAATGCTAATAAATTATTGTGGTACTGCCAGTATTAAATATATGGCAGATGGTATTAACTACTGATCAATAGTAAGCATACAGAACTGGGGATTATGGATTTTATAAACTATGAGACAGTCACCCCAGTTTGGACTGGGACTAATCCCCAGTACTGATTTGTCATCCACTGAGTAGACTTTATGAATATTTTGGGTAATTTGAAATGATCTCATTATTGAAAGATGATTTCATATGTAGAGAAGATAA... | CCAAAAGAATAGTTTTTTAATCACACACATAAGAAATTTTATCACAATATTTAAAACTAATATTTCATTATCTAATGCTAATAAATTATTGTGGTACTGCCAGTATTAAATATATGGCAGATGGTATTAACTACTGATCAATAGTAAGCATACAGAACTGGGGATTATGGATTTTATAAACTATGAGACAGTCACCCCAGTTTGGACTGGGACTAATCCCCAGTACTGATTTGTCATCCACTGAGTAGACTTTATGAATATTTTGGGTAATTTGAAATGATCTCATTATTGAAAGATGATTTCATATGTAGAGAAGATAA... | benign | 173,845 |
Variant at chromosome position 22625111, chromosome 11, gene FANCF (FA complementation group F): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Fanconi_anemia', 'Fanconi_anemia_complementation_group_F'] | GACAGGAGGAATTGTCTTTATTCTTGCATTAATGATAAATGTAATCTACAAGATGGCCTTCATGGATTAGAAAAAGGAATCAGACCACAAGGAAAAAGAAATTGCTGGTTTTCACTCAAGATTTATCTAGAAAAGTGTACTGACTACTGGAATAATAGTTTACCCCTGGGTTGTACCACAGAATGAGAAATTCTACAAGATTATACAACTCTTTTTCTACAAGATTACACTACTCATATTGTTTTTATTCCATTCCGGAATTAGAAATTAACTTTCTAAATATCATTTTTTTCTCCAAAAAAATCCTCTTACCAGCTAAC... | GACAGGAGGAATTGTCTTTATTCTTGCATTAATGATAAATGTAATCTACAAGATGGCCTTCATGGATTAGAAAAAGGAATCAGACCACAAGGAAAAAGAAATTGCTGGTTTTCACTCAAGATTTATCTAGAAAAGTGTACTGACTACTGGAATAATAGTTTACCCCTGGGTTGTACCACAGAATGAGAAATTCTACAAGATTATACAACTCTTTTTCTACAAGATTACACTACTCATATTGTTTTTATTCCATTCCGGAATTAGAAATTAACTTTCTAAATATCATTTTTTTCTCCAAAAAAATCCTCTTACCAGCTAAC... | pathogenic | 173,862 |
Located at chromosome 11 position 22625120, the variant affecting gene FANCF (FA complementation group F)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Fanconi_anemia', 'Fanconi_anemia_complementation_group_F'] | AATTGTCTTTATTCTTGCATTAATGATAAATGTAATCTACAAGATGGCCTTCATGGATTAGAAAAAGGAATCAGACCACAAGGAAAAAGAAATTGCTGGTTTTCACTCAAGATTTATCTAGAAAAGTGTACTGACTACTGGAATAATAGTTTACCCCTGGGTTGTACCACAGAATGAGAAATTCTACAAGATTATACAACTCTTTTTCTACAAGATTACACTACTCATATTGTTTTTATTCCATTCCGGAATTAGAAATTAACTTTCTAAATATCATTTTTTTCTCCAAAAAAATCCTCTTACCAGCTAACCTGGATATG... | AATTGTCTTTATTCTTGCATTAATGATAAATGTAATCTACAAGATGGCCTTCATGGATTAGAAAAAGGAATCAGACCACAAGGAAAAAGAAATTGCTGGTTTTCACTCAAGATTTATCTAGAAAAGTGTACTGACTACTGGAATAATAGTTTACCCCTGGGTTGTACCACAGAATGAGAAATTCTACAAGATTATACAACTCTTTTTCTACAAGATTACACTACTCATATTGTTTTTATTCCATTCCGGAATTAGAAATTAACTTTCTAAATATCATTTTTTTCTCCAAAAAAATCCTCTTACCAGCTAACCTGGATATG... | pathogenic | 173,863 |
Clinical impact (benign or pathogenic) of the variant at chromosome 11, location 22625206, gene FANCF (FA complementation group F): what disease(s) if pathogenic? | pathogenic; ['FANCF-related_disorder', 'Fanconi_anemia', 'Fanconi_anemia_complementation_group_F'] | AAGAAATTGCTGGTTTTCACTCAAGATTTATCTAGAAAAGTGTACTGACTACTGGAATAATAGTTTACCCCTGGGTTGTACCACAGAATGAGAAATTCTACAAGATTATACAACTCTTTTTCTACAAGATTACACTACTCATATTGTTTTTATTCCATTCCGGAATTAGAAATTAACTTTCTAAATATCATTTTTTTCTCCAAAAAAATCCTCTTACCAGCTAACCTGGATATGGACAAAAATATCTTGATTGCTGTAAAGGTCTATCTCCCTAGTAAAAATGAATAAATTGCCCTTGAATTTATTCAAGGCAATCACTA... | AAGAAATTGCTGGTTTTCACTCAAGATTTATCTAGAAAAGTGTACTGACTACTGGAATAATAGTTTACCCCTGGGTTGTACCACAGAATGAGAAATTCTACAAGATTATACAACTCTTTTTCTACAAGATTACACTACTCATATTGTTTTTATTCCATTCCGGAATTAGAAATTAACTTTCTAAATATCATTTTTTTCTCCAAAAAAATCCTCTTACCAGCTAACCTGGATATGGACAAAAATATCTTGATTGCTGTAAAGGTCTATCTCCCTAGTAAAAATGAATAAATTGCCCTTGAATTTATTCAAGGCAATCACTA... | pathogenic | 173,870 |
For chromosome 11, position 22625272, gene FANCF (FA complementation group F): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Fanconi_anemia', 'Fanconi_anemia_complementation_group_F'] | ACCCCTGGGTTGTACCACAGAATGAGAAATTCTACAAGATTATACAACTCTTTTTCTACAAGATTACACTACTCATATTGTTTTTATTCCATTCCGGAATTAGAAATTAACTTTCTAAATATCATTTTTTTCTCCAAAAAAATCCTCTTACCAGCTAACCTGGATATGGACAAAAATATCTTGATTGCTGTAAAGGTCTATCTCCCTAGTAAAAATGAATAAATTGCCCTTGAATTTATTCAAGGCAATCACTATCAGCTGTGGAACACCCAGGTAAACTAACACAACTAGGTTCCTACACACAAAACAAATATTCTAAA... | ACCCCTGGGTTGTACCACAGAATGAGAAATTCTACAAGATTATACAACTCTTTTTCTACAAGATTACACTACTCATATTGTTTTTATTCCATTCCGGAATTAGAAATTAACTTTCTAAATATCATTTTTTTCTCCAAAAAAATCCTCTTACCAGCTAACCTGGATATGGACAAAAATATCTTGATTGCTGTAAAGGTCTATCTCCCTAGTAAAAATGAATAAATTGCCCTTGAATTTATTCAAGGCAATCACTATCAGCTGTGGAACACCCAGGTAAACTAACACAACTAGGTTCCTACACACAAAACAAATATTCTAAA... | pathogenic | 173,872 |
Chromosome 11, position 22625273, gene FANCF (FA complementation group F): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Fanconi_anemia_complementation_group_F'] | CCCCTGGGTTGTACCACAGAATGAGAAATTCTACAAGATTATACAACTCTTTTTCTACAAGATTACACTACTCATATTGTTTTTATTCCATTCCGGAATTAGAAATTAACTTTCTAAATATCATTTTTTTCTCCAAAAAAATCCTCTTACCAGCTAACCTGGATATGGACAAAAATATCTTGATTGCTGTAAAGGTCTATCTCCCTAGTAAAAATGAATAAATTGCCCTTGAATTTATTCAAGGCAATCACTATCAGCTGTGGAACACCCAGGTAAACTAACACAACTAGGTTCCTACACACAAAACAAATATTCTAAAC... | CCCCTGGGTTGTACCACAGAATGAGAAATTCTACAAGATTATACAACTCTTTTTCTACAAGATTACACTACTCATATTGTTTTTATTCCATTCCGGAATTAGAAATTAACTTTCTAAATATCATTTTTTTCTCCAAAAAAATCCTCTTACCAGCTAACCTGGATATGGACAAAAATATCTTGATTGCTGTAAAGGTCTATCTCCCTAGTAAAAATGAATAAATTGCCCTTGAATTTATTCAAGGCAATCACTATCAGCTGTGGAACACCCAGGTAAACTAACACAACTAGGTTCCTACACACAAAACAAATATTCTAAAC... | pathogenic | 173,873 |
Chromosome 11, position 22625325, gene FANCF (FA complementation group F): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['FANCF-related_disorder', 'Fanconi_anemia', 'Fanconi_anemia_complementation_group_F', 'likely other unspecified diseases'] | TTCTACAAGATTACACTACTCATATTGTTTTTATTCCATTCCGGAATTAGAAATTAACTTTCTAAATATCATTTTTTTCTCCAAAAAAATCCTCTTACCAGCTAACCTGGATATGGACAAAAATATCTTGATTGCTGTAAAGGTCTATCTCCCTAGTAAAAATGAATAAATTGCCCTTGAATTTATTCAAGGCAATCACTATCAGCTGTGGAACACCCAGGTAAACTAACACAACTAGGTTCCTACACACAAAACAAATATTCTAAACTGTTTCCACAGGGCAGCCACCAAGGGAAAAATAAGGAAATTTAACTATTTTA... | TTCTACAAGATTACACTACTCATATTGTTTTTATTCCATTCCGGAATTAGAAATTAACTTTCTAAATATCATTTTTTTCTCCAAAAAAATCCTCTTACCAGCTAACCTGGATATGGACAAAAATATCTTGATTGCTGTAAAGGTCTATCTCCCTAGTAAAAATGAATAAATTGCCCTTGAATTTATTCAAGGCAATCACTATCAGCTGTGGAACACCCAGGTAAACTAACACAACTAGGTTCCTACACACAAAACAAATATTCTAAACTGTTTCCACAGGGCAGCCACCAAGGGAAAAATAAGGAAATTTAACTATTTTA... | pathogenic | 173,874 |
Is the genetic mutation found on chromosome 11 at position 22625413, within the gene FANCF (FA complementation group F), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Fanconi_anemia', 'Fanconi_anemia_complementation_group_F'] | ATCCTCTTACCAGCTAACCTGGATATGGACAAAAATATCTTGATTGCTGTAAAGGTCTATCTCCCTAGTAAAAATGAATAAATTGCCCTTGAATTTATTCAAGGCAATCACTATCAGCTGTGGAACACCCAGGTAAACTAACACAACTAGGTTCCTACACACAAAACAAATATTCTAAACTGTTTCCACAGGGCAGCCACCAAGGGAAAAATAAGGAAATTTAACTATTTTATTCTAAACACTTCATTTACATATAAGGCAACTGTGGCCCCAAGGTTGTGATTTATTAACCTAGTTAACGGCAGAAGCTGCACTAAAAC... | ATCCTCTTACCAGCTAACCTGGATATGGACAAAAATATCTTGATTGCTGTAAAGGTCTATCTCCCTAGTAAAAATGAATAAATTGCCCTTGAATTTATTCAAGGCAATCACTATCAGCTGTGGAACACCCAGGTAAACTAACACAACTAGGTTCCTACACACAAAACAAATATTCTAAACTGTTTCCACAGGGCAGCCACCAAGGGAAAAATAAGGAAATTTAACTATTTTATTCTAAACACTTCATTTACATATAAGGCAACTGTGGCCCCAAGGTTGTGATTTATTAACCTAGTTAACGGCAGAAGCTGCACTAAAAC... | pathogenic | 173,876 |
Assess the variant on chromosome 11, position 22625422, impacting FANCF (FA complementation group F): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Fanconi_anemia', 'Fanconi_anemia_complementation_group_F'] | CCAGCTAACCTGGATATGGACAAAAATATCTTGATTGCTGTAAAGGTCTATCTCCCTAGTAAAAATGAATAAATTGCCCTTGAATTTATTCAAGGCAATCACTATCAGCTGTGGAACACCCAGGTAAACTAACACAACTAGGTTCCTACACACAAAACAAATATTCTAAACTGTTTCCACAGGGCAGCCACCAAGGGAAAAATAAGGAAATTTAACTATTTTATTCTAAACACTTCATTTACATATAAGGCAACTGTGGCCCCAAGGTTGTGATTTATTAACCTAGTTAACGGCAGAAGCTGCACTAAAACCTGGATCTT... | CCAGCTAACCTGGATATGGACAAAAATATCTTGATTGCTGTAAAGGTCTATCTCCCTAGTAAAAATGAATAAATTGCCCTTGAATTTATTCAAGGCAATCACTATCAGCTGTGGAACACCCAGGTAAACTAACACAACTAGGTTCCTACACACAAAACAAATATTCTAAACTGTTTCCACAGGGCAGCCACCAAGGGAAAAATAAGGAAATTTAACTATTTTATTCTAAACACTTCATTTACATATAAGGCAACTGTGGCCCCAAGGTTGTGATTTATTAACCTAGTTAACGGCAGAAGCTGCACTAAAACCTGGATCTT... | pathogenic | 173,877 |
Mutation found at chromosome 11 position 22625542, gene FANCF (FA complementation group F): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Fanconi_anemia', 'Fanconi_anemia_complementation_group_F'] | CAGGTAAACTAACACAACTAGGTTCCTACACACAAAACAAATATTCTAAACTGTTTCCACAGGGCAGCCACCAAGGGAAAAATAAGGAAATTTAACTATTTTATTCTAAACACTTCATTTACATATAAGGCAACTGTGGCCCCAAGGTTGTGATTTATTAACCTAGTTAACGGCAGAAGCTGCACTAAAACCTGGATCTTCTACTTAAAATGTTGTTTTGGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGACGGATCACAAGGTCAGGTGTTTGAGACCAGCCTGGCCAGCATGGT... | CAGGTAAACTAACACAACTAGGTTCCTACACACAAAACAAATATTCTAAACTGTTTCCACAGGGCAGCCACCAAGGGAAAAATAAGGAAATTTAACTATTTTATTCTAAACACTTCATTTACATATAAGGCAACTGTGGCCCCAAGGTTGTGATTTATTAACCTAGTTAACGGCAGAAGCTGCACTAAAACCTGGATCTTCTACTTAAAATGTTGTTTTGGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGACGGATCACAAGGTCAGGTGTTTGAGACCAGCCTGGCCAGCATGGT... | pathogenic | 173,881 |
Mutation found at chromosome 11 position 22625558, gene FANCF (FA complementation group F): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Fanconi_anemia', 'Fanconi_anemia_complementation_group_F'] | ACTAGGTTCCTACACACAAAACAAATATTCTAAACTGTTTCCACAGGGCAGCCACCAAGGGAAAAATAAGGAAATTTAACTATTTTATTCTAAACACTTCATTTACATATAAGGCAACTGTGGCCCCAAGGTTGTGATTTATTAACCTAGTTAACGGCAGAAGCTGCACTAAAACCTGGATCTTCTACTTAAAATGTTGTTTTGGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGACGGATCACAAGGTCAGGTGTTTGAGACCAGCCTGGCCAGCATGGTGAAACCCCGTCTCTAC... | ACTAGGTTCCTACACACAAAACAAATATTCTAAACTGTTTCCACAGGGCAGCCACCAAGGGAAAAATAAGGAAATTTAACTATTTTATTCTAAACACTTCATTTACATATAAGGCAACTGTGGCCCCAAGGTTGTGATTTATTAACCTAGTTAACGGCAGAAGCTGCACTAAAACCTGGATCTTCTACTTAAAATGTTGTTTTGGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGACGGATCACAAGGTCAGGTGTTTGAGACCAGCCTGGCCAGCATGGTGAAACCCCGTCTCTAC... | pathogenic | 173,883 |
Gene FANCF (FA complementation group F) variant at chromosome 11, position 22625591—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Fanconi_anemia', 'Fanconi_anemia_complementation_group_F'] | ACTGTTTCCACAGGGCAGCCACCAAGGGAAAAATAAGGAAATTTAACTATTTTATTCTAAACACTTCATTTACATATAAGGCAACTGTGGCCCCAAGGTTGTGATTTATTAACCTAGTTAACGGCAGAAGCTGCACTAAAACCTGGATCTTCTACTTAAAATGTTGTTTTGGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGACGGATCACAAGGTCAGGTGTTTGAGACCAGCCTGGCCAGCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCATGGTGGC... | ACTGTTTCCACAGGGCAGCCACCAAGGGAAAAATAAGGAAATTTAACTATTTTATTCTAAACACTTCATTTACATATAAGGCAACTGTGGCCCCAAGGTTGTGATTTATTAACCTAGTTAACGGCAGAAGCTGCACTAAAACCTGGATCTTCTACTTAAAATGTTGTTTTGGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGACGGATCACAAGGTCAGGTGTTTGAGACCAGCCTGGCCAGCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCATGGTGGC... | pathogenic | 173,886 |
Chromosome 11, position 22625674, gene FANCF (FA complementation group F): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Fanconi_anemia', 'Fanconi_anemia_complementation_group_F'] | ACTGTGGCCCCAAGGTTGTGATTTATTAACCTAGTTAACGGCAGAAGCTGCACTAAAACCTGGATCTTCTACTTAAAATGTTGTTTTGGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGACGGATCACAAGGTCAGGTGTTTGAGACCAGCCTGGCCAGCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCATGGTGGCCTGCGCCTGTAATCCCAGCTACTTGGGAGGCTGAGTCAGAATTGCTTGATCCTGGGAGGCAGAGGTTGCACTGAGCAGTGATC... | ACTGTGGCCCCAAGGTTGTGATTTATTAACCTAGTTAACGGCAGAAGCTGCACTAAAACCTGGATCTTCTACTTAAAATGTTGTTTTGGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGACGGATCACAAGGTCAGGTGTTTGAGACCAGCCTGGCCAGCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCATGGTGGCCTGCGCCTGTAATCCCAGCTACTTGGGAGGCTGAGTCAGAATTGCTTGATCCTGGGAGGCAGAGGTTGCACTGAGCAGTGATC... | pathogenic | 173,890 |
Assess the variant on chromosome 11, position 22625726, impacting FANCF (FA complementation group F): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Fanconi_anemia', 'Fanconi_anemia_complementation_group_F'] | CTAAAACCTGGATCTTCTACTTAAAATGTTGTTTTGGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGACGGATCACAAGGTCAGGTGTTTGAGACCAGCCTGGCCAGCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCATGGTGGCCTGCGCCTGTAATCCCAGCTACTTGGGAGGCTGAGTCAGAATTGCTTGATCCTGGGAGGCAGAGGTTGCACTGAGCAGTGATCACACCACTGCACTCCAGTCTGGGTGACAGAGCGAGACTCCATCTCAAAAAAA... | CTAAAACCTGGATCTTCTACTTAAAATGTTGTTTTGGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGACGGATCACAAGGTCAGGTGTTTGAGACCAGCCTGGCCAGCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCATGGTGGCCTGCGCCTGTAATCCCAGCTACTTGGGAGGCTGAGTCAGAATTGCTTGATCCTGGGAGGCAGAGGTTGCACTGAGCAGTGATCACACCACTGCACTCCAGTCTGGGTGACAGAGCGAGACTCCATCTCAAAAAAA... | pathogenic | 173,892 |
Is the chromosome 11, position 22625786 variant in FANCF (FA complementation group F) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Fanconi_anemia', 'Fanconi_anemia_complementation_group_F'] | TAATCCCAGCACTTTGGGAGGCCAAGGCGGACGGATCACAAGGTCAGGTGTTTGAGACCAGCCTGGCCAGCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCATGGTGGCCTGCGCCTGTAATCCCAGCTACTTGGGAGGCTGAGTCAGAATTGCTTGATCCTGGGAGGCAGAGGTTGCACTGAGCAGTGATCACACCACTGCACTCCAGTCTGGGTGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAGTTTGATTCTTTTATCATCAAGCATTAATTTAATATCCAAAGGCATATATTCGTA... | TAATCCCAGCACTTTGGGAGGCCAAGGCGGACGGATCACAAGGTCAGGTGTTTGAGACCAGCCTGGCCAGCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCATGGTGGCCTGCGCCTGTAATCCCAGCTACTTGGGAGGCTGAGTCAGAATTGCTTGATCCTGGGAGGCAGAGGTTGCACTGAGCAGTGATCACACCACTGCACTCCAGTCTGGGTGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAGTTTGATTCTTTTATCATCAAGCATTAATTTAATATCCAAAGGCATATATTCGTA... | pathogenic | 173,893 |
Is the genetic change at chromosome 11, position 26553229, within gene ANO3 (anoctamin 3) benign or pathogenic? Name the disease(s) if pathogenic. | benign | GGTCCAAACATCCACCTCCATATAGAAAATTTATCGCTACTTTTATCTTTAATTGGTAGTAATGATTATTTCTTTGGAATCACACTTGATGTGTATATTTAGCAATAAATACAAAACAAAAGAAAACCACAATTTGAGTGGTTGTTTGGATTGTCAAGCACTGCAAAAGAAATTAAGAAACACTCATGATGGGAACTCTCTCTCCCTCTAGTGGTTAAGTAAAGTCAAAGAAACTTGTGATACTCTTAAATATTTTAGACTAAAAAATGTCAAAAGTTTTGTGATGATTTTTGTGTACCATGTATCAAGTTGAATGTTGA... | GGTCCAAACATCCACCTCCATATAGAAAATTTATCGCTACTTTTATCTTTAATTGGTAGTAATGATTATTTCTTTGGAATCACACTTGATGTGTATATTTAGCAATAAATACAAAACAAAAGAAAACCACAATTTGAGTGGTTGTTTGGATTGTCAAGCACTGCAAAAGAAATTAAGAAACACTCATGATGGGAACTCTCTCTCCCTCTAGTGGTTAAGTAAAGTCAAAGAAACTTGTGATACTCTTAAATATTTTAGACTAAAAAATGTCAAAAGTTTTGTGATGATTTTTGTGTACCATGTATCAAGTTGAATGTTGA... | benign | 173,933 |
Does the variant impacting ANO3 (anoctamin 3) on chromosome 11, position 26553230, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | benign | GTCCAAACATCCACCTCCATATAGAAAATTTATCGCTACTTTTATCTTTAATTGGTAGTAATGATTATTTCTTTGGAATCACACTTGATGTGTATATTTAGCAATAAATACAAAACAAAAGAAAACCACAATTTGAGTGGTTGTTTGGATTGTCAAGCACTGCAAAAGAAATTAAGAAACACTCATGATGGGAACTCTCTCTCCCTCTAGTGGTTAAGTAAAGTCAAAGAAACTTGTGATACTCTTAAATATTTTAGACTAAAAAATGTCAAAAGTTTTGTGATGATTTTTGTGTACCATGTATCAAGTTGAATGTTGAG... | GTCCAAACATCCACCTCCATATAGAAAATTTATCGCTACTTTTATCTTTAATTGGTAGTAATGATTATTTCTTTGGAATCACACTTGATGTGTATATTTAGCAATAAATACAAAACAAAAGAAAACCACAATTTGAGTGGTTGTTTGGATTGTCAAGCACTGCAAAAGAAATTAAGAAACACTCATGATGGGAACTCTCTCTCCCTCTAGTGGTTAAGTAAAGTCAAAGAAACTTGTGATACTCTTAAATATTTTAGACTAAAAAATGTCAAAAGTTTTGTGATGATTTTTGTGTACCATGTATCAAGTTGAATGTTGAG... | benign | 173,935 |
The genetic variant at chromosome 11, position 26553235, affecting gene ANO3 (anoctamin 3): benign or pathogenic? Disease name(s) if pathogenic? | benign | AACATCCACCTCCATATAGAAAATTTATCGCTACTTTTATCTTTAATTGGTAGTAATGATTATTTCTTTGGAATCACACTTGATGTGTATATTTAGCAATAAATACAAAACAAAAGAAAACCACAATTTGAGTGGTTGTTTGGATTGTCAAGCACTGCAAAAGAAATTAAGAAACACTCATGATGGGAACTCTCTCTCCCTCTAGTGGTTAAGTAAAGTCAAAGAAACTTGTGATACTCTTAAATATTTTAGACTAAAAAATGTCAAAAGTTTTGTGATGATTTTTGTGTACCATGTATCAAGTTGAATGTTGAGTAACT... | AACATCCACCTCCATATAGAAAATTTATCGCTACTTTTATCTTTAATTGGTAGTAATGATTATTTCTTTGGAATCACACTTGATGTGTATATTTAGCAATAAATACAAAACAAAAGAAAACCACAATTTGAGTGGTTGTTTGGATTGTCAAGCACTGCAAAAGAAATTAAGAAACACTCATGATGGGAACTCTCTCTCCCTCTAGTGGTTAAGTAAAGTCAAAGAAACTTGTGATACTCTTAAATATTTTAGACTAAAAAATGTCAAAAGTTTTGTGATGATTTTTGTGTACCATGTATCAAGTTGAATGTTGAGTAACT... | benign | 173,936 |
Does the genetic variant at chromosome 11, position 26553236, impacting gene ANO3 (anoctamin 3), appear benign or pathogenic? If pathogenic, name the associated disease(s). | benign | ACATCCACCTCCATATAGAAAATTTATCGCTACTTTTATCTTTAATTGGTAGTAATGATTATTTCTTTGGAATCACACTTGATGTGTATATTTAGCAATAAATACAAAACAAAAGAAAACCACAATTTGAGTGGTTGTTTGGATTGTCAAGCACTGCAAAAGAAATTAAGAAACACTCATGATGGGAACTCTCTCTCCCTCTAGTGGTTAAGTAAAGTCAAAGAAACTTGTGATACTCTTAAATATTTTAGACTAAAAAATGTCAAAAGTTTTGTGATGATTTTTGTGTACCATGTATCAAGTTGAATGTTGAGTAACTT... | ACATCCACCTCCATATAGAAAATTTATCGCTACTTTTATCTTTAATTGGTAGTAATGATTATTTCTTTGGAATCACACTTGATGTGTATATTTAGCAATAAATACAAAACAAAAGAAAACCACAATTTGAGTGGTTGTTTGGATTGTCAAGCACTGCAAAAGAAATTAAGAAACACTCATGATGGGAACTCTCTCTCCCTCTAGTGGTTAAGTAAAGTCAAAGAAACTTGTGATACTCTTAAATATTTTAGACTAAAAAATGTCAAAAGTTTTGTGATGATTTTTGTGTACCATGTATCAAGTTGAATGTTGAGTAACTT... | benign | 173,939 |
Assess the variant on chromosome 11, position 26553241, impacting ANO3 (anoctamin 3): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | benign | CACCTCCATATAGAAAATTTATCGCTACTTTTATCTTTAATTGGTAGTAATGATTATTTCTTTGGAATCACACTTGATGTGTATATTTAGCAATAAATACAAAACAAAAGAAAACCACAATTTGAGTGGTTGTTTGGATTGTCAAGCACTGCAAAAGAAATTAAGAAACACTCATGATGGGAACTCTCTCTCCCTCTAGTGGTTAAGTAAAGTCAAAGAAACTTGTGATACTCTTAAATATTTTAGACTAAAAAATGTCAAAAGTTTTGTGATGATTTTTGTGTACCATGTATCAAGTTGAATGTTGAGTAACTTTCAGA... | CACCTCCATATAGAAAATTTATCGCTACTTTTATCTTTAATTGGTAGTAATGATTATTTCTTTGGAATCACACTTGATGTGTATATTTAGCAATAAATACAAAACAAAAGAAAACCACAATTTGAGTGGTTGTTTGGATTGTCAAGCACTGCAAAAGAAATTAAGAAACACTCATGATGGGAACTCTCTCTCCCTCTAGTGGTTAAGTAAAGTCAAAGAAACTTGTGATACTCTTAAATATTTTAGACTAAAAAATGTCAAAAGTTTTGTGATGATTTTTGTGTACCATGTATCAAGTTGAATGTTGAGTAACTTTCAGA... | benign | 173,940 |
Regarding the variant at chromosome 11 and position 26559835, affecting gene ANO3: benign or pathogenic? If pathogenic, what are the associated illness(es)? | benign | CATTCAGCAGCTCATATGTCAGCACCCTAAATAAAGCCCTGAACATCTCAAGCTATAACCACAGACCTCGAACTGTTCTTGTTGTCTCTATGATCTCCCACGTCATAATACATCCCATGTGTAATAGCTTGGTAAATCTAACACATGATTAAACACTGTCGTACTCTTCCTTAGAGCAAGTTCTGAAGTCTTCTCTAATGCTCCTTCTAGCTTTATCTCCCATTAGATGTATATAATCCCACATTACAAGAATATTACATGTACTCCAACTTTATCTCAGGAAGATGTTCCTAAACTATTAATGTTTAAATTTATTGACT... | CATTCAGCAGCTCATATGTCAGCACCCTAAATAAAGCCCTGAACATCTCAAGCTATAACCACAGACCTCGAACTGTTCTTGTTGTCTCTATGATCTCCCACGTCATAATACATCCCATGTGTAATAGCTTGGTAAATCTAACACATGATTAAACACTGTCGTACTCTTCCTTAGAGCAAGTTCTGAAGTCTTCTCTAATGCTCCTTCTAGCTTTATCTCCCATTAGATGTATATAATCCCACATTACAAGAATATTACATGTACTCCAACTTTATCTCAGGAAGATGTTCCTAAACTATTAATGTTTAAATTTATTGACT... | benign | 173,942 |
Determine whether the variant at chromosome 11, position 26559835, in gene ANO3 is benign or pathogenic. If pathogenic, identify the relevant disease(s). | benign | CATTCAGCAGCTCATATGTCAGCACCCTAAATAAAGCCCTGAACATCTCAAGCTATAACCACAGACCTCGAACTGTTCTTGTTGTCTCTATGATCTCCCACGTCATAATACATCCCATGTGTAATAGCTTGGTAAATCTAACACATGATTAAACACTGTCGTACTCTTCCTTAGAGCAAGTTCTGAAGTCTTCTCTAATGCTCCTTCTAGCTTTATCTCCCATTAGATGTATATAATCCCACATTACAAGAATATTACATGTACTCCAACTTTATCTCAGGAAGATGTTCCTAAACTATTAATGTTTAAATTTATTGACT... | CATTCAGCAGCTCATATGTCAGCACCCTAAATAAAGCCCTGAACATCTCAAGCTATAACCACAGACCTCGAACTGTTCTTGTTGTCTCTATGATCTCCCACGTCATAATACATCCCATGTGTAATAGCTTGGTAAATCTAACACATGATTAAACACTGTCGTACTCTTCCTTAGAGCAAGTTCTGAAGTCTTCTCTAATGCTCCTTCTAGCTTTATCTCCCATTAGATGTATATAATCCCACATTACAAGAATATTACATGTACTCCAACTTTATCTCAGGAAGATGTTCCTAAACTATTAATGTTTAAATTTATTGACT... | benign | 173,943 |
Clinical classification of chromosome 11, position 26642048, gene ANO3 (anoctamin 3): benign or pathogenic? Disease(s) if pathogenic? | benign | TATCAAATTATATTCTTTTTTTTTCTTGTGGTGGTACATATTTTATCAGAACATTCTTGAACAAAGATCTGGGGGTTGTAGAAGTGATATTAACCCTGCAATCTGCTATAAAGTATTGTGTTAATTTACAGGCAGCCTTAGAGTATAGGCTGTGGAATTACCCAGACCTGGTTTAAATTCCTTCTCTCTTCCTTGCTAAATTTGCTTAATATTTCCTTGACATCTCTTAGGCTTTTTTAGTCCATTTATAAAATAGGATATTTATGAAGATTAACTGAGATGACCCAGTGCTTTTTAAACCTTCATCATAAACGACAGAA... | TATCAAATTATATTCTTTTTTTTTCTTGTGGTGGTACATATTTTATCAGAACATTCTTGAACAAAGATCTGGGGGTTGTAGAAGTGATATTAACCCTGCAATCTGCTATAAAGTATTGTGTTAATTTACAGGCAGCCTTAGAGTATAGGCTGTGGAATTACCCAGACCTGGTTTAAATTCCTTCTCTCTTCCTTGCTAAATTTGCTTAATATTTCCTTGACATCTCTTAGGCTTTTTTAGTCCATTTATAAAATAGGATATTTATGAAGATTAACTGAGATGACCCAGTGCTTTTTAAACCTTCATCATAAACGACAGAA... | benign | 173,974 |
Chromosome 11, position 30233644, gene FSHB: benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Hypogonadotropic_hypogonadism_24_without_anosmia'] | TATGACAGTCAGCAATAAGATTCTAATCTTTAAATATTCCTCTGCTTAAATCATTATATTGGAGTTTTGATCTATAATATATTCCCACCCTGACCCAAAAATTGAAGAAGGACAAGGAAAAATGTTGTTCCAAGAAACAAAGATGTAAGTAAAAAGGCATAAGGAAGGAAAAAAAACTTTTGAAGCAAAATGTGATTGAGGAGGATGAGCAGACCAATTATTTTTGGTTTGGTCAGCTTACATAATGATTATCGTTCTTTGGTTTCTCAGTTTCTAGTGGGCTTCATTGTTTGCTTCCCAGACCAGGATGAAGACACTCC... | TATGACAGTCAGCAATAAGATTCTAATCTTTAAATATTCCTCTGCTTAAATCATTATATTGGAGTTTTGATCTATAATATATTCCCACCCTGACCCAAAAATTGAAGAAGGACAAGGAAAAATGTTGTTCCAAGAAACAAAGATGTAAGTAAAAAGGCATAAGGAAGGAAAAAAAACTTTTGAAGCAAAATGTGATTGAGGAGGATGAGCAGACCAATTATTTTTGGTTTGGTCAGCTTACATAATGATTATCGTTCTTTGGTTTCTCAGTTTCTAGTGGGCTTCATTGTTTGCTTCCCAGACCAGGATGAAGACACTCC... | pathogenic | 174,006 |
Evaluate the clinical significance of the mutation at chromosome 11, position 31786196 in gene PAX6: benign or pathogenic? What disease(s) does a pathogenic variant suggest? | benign | TCCTAAACAATTGAAGTCAGTACTATGAAATTATGTCAACAGGCATCATTCAGGATTGAAATTCAAACTGACAGCTACATTAATGCTAGGATACCAGGAGAAAAACATATACTGAAGCTTGTTGAGAGATTTTACAGAACATAGGTCTGAGACAAAGTGAAAAAATGAAACTAACTCAGATTTCCATTGCATCACATAAATATTTTGTTAATAATGAACATTGGTTGAGTGTGTAAATTTCTAACCATGTAAACATGTCTTTGGGGGGTATAGCATATCGAACCAGTTTTCATATGAAACATTAGGTGTTTTAATTACAA... | TCCTAAACAATTGAAGTCAGTACTATGAAATTATGTCAACAGGCATCATTCAGGATTGAAATTCAAACTGACAGCTACATTAATGCTAGGATACCAGGAGAAAAACATATACTGAAGCTTGTTGAGAGATTTTACAGAACATAGGTCTGAGACAAAGTGAAAAAATGAAACTAACTCAGATTTCCATTGCATCACATAAATATTTTGTTAATAATGAACATTGGTTGAGTGTGTAAATTTCTAACCATGTAAACATGTCTTTGGGGGGTATAGCATATCGAACCAGTTTTCATATGAAACATTAGGTGTTTTAATTACAA... | benign | 174,030 |
Evaluate if the mutation on chromosome 11 at position 31786687 in PAX6 is benign or pathogenic. Disease name(s) if pathogenic? | benign | AGCATTTTTAAGCAGCTTGCTTTTAATATACCACAAATTATACTTTATTTGTTCTTGACAACATTGTAGAAAACAAAGACTAGGTTTTTAAAACTGTCTAACCAATATGATGAATGTCAGTCACTTAAAAAAACCCACTGTAGCATAAACACATACTGTATACAGCTTTTATTCAGAATTAGAATAATTGAATCAATGACAGTGATTTGCCAGGATGTCAAATCTCTCCATCATATCCTGTCACTACCAGTTTATTTTTTGTGATCAAAATCAAAAAGACAACTATTTTGTCACCCGCTATTTCATTAGTACTAAAAATC... | AGCATTTTTAAGCAGCTTGCTTTTAATATACCACAAATTATACTTTATTTGTTCTTGACAACATTGTAGAAAACAAAGACTAGGTTTTTAAAACTGTCTAACCAATATGATGAATGTCAGTCACTTAAAAAAACCCACTGTAGCATAAACACATACTGTATACAGCTTTTATTCAGAATTAGAATAATTGAATCAATGACAGTGATTTGCCAGGATGTCAAATCTCTCCATCATATCCTGTCACTACCAGTTTATTTTTTGTGATCAAAATCAAAAAGACAACTATTTTGTCACCCGCTATTTCATTAGTACTAAAAATC... | benign | 174,031 |
Is the genetic variant on chromosome 11, position 31787037, gene PAX6, benign or pathogenic? If pathogenic, what disease(s) is indicated? | benign | GGGTTTATTTTTTTCATTTCTTTTAATTCTAAAGACACAGATTCTTCCCCATTTTCTTTTCAAAATAAAGTTTCAGAATTGATCTGTCAGTTAAAATTAAAGGGCTTTATATTAAGCAAAGGTGCTTTTAAATTTTAAAGCAACTTCAAAAAATTGATTTAGTCCATAGATAATAAATAATGTTGTGCGGATACTCCACAAAAGCTCTGCTATGTCCTTTGAAAGCATTATGAACATTCTGAATAAATTCAAATGAGTATTTTAGTCAGTTTATTATTTTAATAACTCTAACCTTTTTCTTACCGTGTTGATTCATTTTA... | GGGTTTATTTTTTTCATTTCTTTTAATTCTAAAGACACAGATTCTTCCCCATTTTCTTTTCAAAATAAAGTTTCAGAATTGATCTGTCAGTTAAAATTAAAGGGCTTTATATTAAGCAAAGGTGCTTTTAAATTTTAAAGCAACTTCAAAAAATTGATTTAGTCCATAGATAATAAATAATGTTGTGCGGATACTCCACAAAAGCTCTGCTATGTCCTTTGAAAGCATTATGAACATTCTGAATAAATTCAAATGAGTATTTTAGTCAGTTTATTATTTTAATAACTCTAACCTTTTTCTTACCGTGTTGATTCATTTTA... | benign | 174,035 |
Considering the variant on chromosome 11, location 31789912, involving gene PAX6, would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | benign | CCATTAATTTCTACATTTCTGATCATTTGCTTTTGGGGATTTTTTTAAAGCAGAGTATAATTCAGTGGAAGTGTGTCTTTGTCCCCAGAGGTTTCTGCATGTGCAAGCATTTTAATCTAGACTGCCAGAACCCCCAGGCTTTTTAGTGAAGTTTGCAGAGGAAGACTTATCTGTATTGACTTATATGTTGCACAGAACAAATGAAAGTCTCAGACAGTCCTTTTTTACCCAACAAAGGCTTATTTTTTTCCATCCTTTGCTTGGGCTCAAGCACTCCTGCCCTGCGTGCCTCCACTTTAAACATGATCAGAACTGTGCTT... | CCATTAATTTCTACATTTCTGATCATTTGCTTTTGGGGATTTTTTTAAAGCAGAGTATAATTCAGTGGAAGTGTGTCTTTGTCCCCAGAGGTTTCTGCATGTGCAAGCATTTTAATCTAGACTGCCAGAACCCCCAGGCTTTTTAGTGAAGTTTGCAGAGGAAGACTTATCTGTATTGACTTATATGTTGCACAGAACAAATGAAAGTCTCAGACAGTCCTTTTTTACCCAACAAAGGCTTATTTTTTTCCATCCTTTGCTTGGGCTCAAGCACTCCTGCCCTGCGTGCCTCCACTTTAAACATGATCAGAACTGTGCTT... | benign | 174,043 |
Determine whether the variant at chromosome 11, position 31789912, in gene PAX6 is benign or pathogenic. If pathogenic, identify the relevant disease(s). | benign | CCATTAATTTCTACATTTCTGATCATTTGCTTTTGGGGATTTTTTTAAAGCAGAGTATAATTCAGTGGAAGTGTGTCTTTGTCCCCAGAGGTTTCTGCATGTGCAAGCATTTTAATCTAGACTGCCAGAACCCCCAGGCTTTTTAGTGAAGTTTGCAGAGGAAGACTTATCTGTATTGACTTATATGTTGCACAGAACAAATGAAAGTCTCAGACAGTCCTTTTTTACCCAACAAAGGCTTATTTTTTTCCATCCTTTGCTTGGGCTCAAGCACTCCTGCCCTGCGTGCCTCCACTTTAAACATGATCAGAACTGTGCTT... | CCATTAATTTCTACATTTCTGATCATTTGCTTTTGGGGATTTTTTTAAAGCAGAGTATAATTCAGTGGAAGTGTGTCTTTGTCCCCAGAGGTTTCTGCATGTGCAAGCATTTTAATCTAGACTGCCAGAACCCCCAGGCTTTTTAGTGAAGTTTGCAGAGGAAGACTTATCTGTATTGACTTATATGTTGCACAGAACAAATGAAAGTCTCAGACAGTCCTTTTTTACCCAACAAAGGCTTATTTTTTTCCATCCTTTGCTTGGGCTCAAGCACTCCTGCCCTGCGTGCCTCCACTTTAAACATGATCAGAACTGTGCTT... | benign | 174,044 |
Is the genetic variant on chromosome 11, position 31789912, gene PAX6, benign or pathogenic? If pathogenic, what disease(s) is indicated? | benign | CCATTAATTTCTACATTTCTGATCATTTGCTTTTGGGGATTTTTTTAAAGCAGAGTATAATTCAGTGGAAGTGTGTCTTTGTCCCCAGAGGTTTCTGCATGTGCAAGCATTTTAATCTAGACTGCCAGAACCCCCAGGCTTTTTAGTGAAGTTTGCAGAGGAAGACTTATCTGTATTGACTTATATGTTGCACAGAACAAATGAAAGTCTCAGACAGTCCTTTTTTACCCAACAAAGGCTTATTTTTTTCCATCCTTTGCTTGGGCTCAAGCACTCCTGCCCTGCGTGCCTCCACTTTAAACATGATCAGAACTGTGCTT... | CCATTAATTTCTACATTTCTGATCATTTGCTTTTGGGGATTTTTTTAAAGCAGAGTATAATTCAGTGGAAGTGTGTCTTTGTCCCCAGAGGTTTCTGCATGTGCAAGCATTTTAATCTAGACTGCCAGAACCCCCAGGCTTTTTAGTGAAGTTTGCAGAGGAAGACTTATCTGTATTGACTTATATGTTGCACAGAACAAATGAAAGTCTCAGACAGTCCTTTTTTACCCAACAAAGGCTTATTTTTTTCCATCCTTTGCTTGGGCTCAAGCACTCCTGCCCTGCGTGCCTCCACTTTAAACATGATCAGAACTGTGCTT... | benign | 174,045 |
Is the variant located on chromosome 11 at position 31800718, gene PAX6 (paired box 6), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Aniridia_1', 'Irido-corneo-trabecular_dysgenesis'] | GGGTGGTGATTGCCAGTTGACCCAGAATTTTCTAGCAACTAGGCGCGTTAAAGTGAAAAGCCCCTGGACTAGCTCCACCTCCGGCCCCAACCATCACAGGCGGACCCTAGCTGATTTGACTCTCACTTCCCGCCCTCAGACTGCCGGCGACGAAAATCCGCCCGAATCGGGCGCCACCTCTGGTGGAAGCTGCTGTCCTCGGCTTCTGCCCAACTCCAAGAAGCGGAAGGGGGGTGTATCCTGCGCCCCAAGCTCATGGGAGCCCACGCACCGGGGAGAGCCCGGAGTGGAGGCTCTGGGCTCAGCCCTCCCAGGCCTAG... | GGGTGGTGATTGCCAGTTGACCCAGAATTTTCTAGCAACTAGGCGCGTTAAAGTGAAAAGCCCCTGGACTAGCTCCACCTCCGGCCCCAACCATCACAGGCGGACCCTAGCTGATTTGACTCTCACTTCCCGCCCTCAGACTGCCGGCGACGAAAATCCGCCCGAATCGGGCGCCACCTCTGGTGGAAGCTGCTGTCCTCGGCTTCTGCCCAACTCCAAGAAGCGGAAGGGGGGTGTATCCTGCGCCCCAAGCTCATGGGAGCCCACGCACCGGGGAGAGCCCGGAGTGGAGGCTCTGGGCTCAGCCCTCCCAGGCCTAG... | pathogenic | 174,072 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 11, position 31800837, gene PAX6 (paired box 6). What disease(s) is it linked to if pathogenic? | pathogenic; ['Aniridia_1', 'Irido-corneo-trabecular_dysgenesis'] | CTCTCACTTCCCGCCCTCAGACTGCCGGCGACGAAAATCCGCCCGAATCGGGCGCCACCTCTGGTGGAAGCTGCTGTCCTCGGCTTCTGCCCAACTCCAAGAAGCGGAAGGGGGGTGTATCCTGCGCCCCAAGCTCATGGGAGCCCACGCACCGGGGAGAGCCCGGAGTGGAGGCTCTGGGCTCAGCCCTCCCAGGCCTAGGCCACCGTGCCCTGAGTCCCTCCCCAAGACTTCTCGGACTAAGTGGGCCAGACTCTTGTCAGGGGAGGGATCACCAGGACCTCAGATTGCTGGGGGCGGAGGGGTGGACGCTCGTGAGT... | CTCTCACTTCCCGCCCTCAGACTGCCGGCGACGAAAATCCGCCCGAATCGGGCGCCACCTCTGGTGGAAGCTGCTGTCCTCGGCTTCTGCCCAACTCCAAGAAGCGGAAGGGGGGTGTATCCTGCGCCCCAAGCTCATGGGAGCCCACGCACCGGGGAGAGCCCGGAGTGGAGGCTCTGGGCTCAGCCCTCCCAGGCCTAGGCCACCGTGCCCTGAGTCCCTCCCCAAGACTTCTCGGACTAAGTGGGCCAGACTCTTGTCAGGGGAGGGATCACCAGGACCTCAGATTGCTGGGGGCGGAGGGGTGGACGCTCGTGAGT... | pathogenic | 174,080 |
Variant at chromosome 11, position 31800855, gene PAX6 (paired box 6): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Aniridia_1', 'Irido-corneo-trabecular_dysgenesis'] | AGACTGCCGGCGACGAAAATCCGCCCGAATCGGGCGCCACCTCTGGTGGAAGCTGCTGTCCTCGGCTTCTGCCCAACTCCAAGAAGCGGAAGGGGGGTGTATCCTGCGCCCCAAGCTCATGGGAGCCCACGCACCGGGGAGAGCCCGGAGTGGAGGCTCTGGGCTCAGCCCTCCCAGGCCTAGGCCACCGTGCCCTGAGTCCCTCCCCAAGACTTCTCGGACTAAGTGGGCCAGACTCTTGTCAGGGGAGGGATCACCAGGACCTCAGATTGCTGGGGGCGGAGGGGTGGACGCTCGTGAGTGCGAAGTTCGGGTGTCAC... | AGACTGCCGGCGACGAAAATCCGCCCGAATCGGGCGCCACCTCTGGTGGAAGCTGCTGTCCTCGGCTTCTGCCCAACTCCAAGAAGCGGAAGGGGGGTGTATCCTGCGCCCCAAGCTCATGGGAGCCCACGCACCGGGGAGAGCCCGGAGTGGAGGCTCTGGGCTCAGCCCTCCCAGGCCTAGGCCACCGTGCCCTGAGTCCCTCCCCAAGACTTCTCGGACTAAGTGGGCCAGACTCTTGTCAGGGGAGGGATCACCAGGACCTCAGATTGCTGGGGGCGGAGGGGTGGACGCTCGTGAGTGCGAAGTTCGGGTGTCAC... | pathogenic | 174,082 |
A genetic variant on chromosome 11, position 31801586, affects the gene PAX6 (paired box 6). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Aniridia_1', 'Irido-corneo-trabecular_dysgenesis'] | GAGAAACAAAACGTTCTCTAATGAGCAATTACAGAGCGACAGGATTGTTCCCATAACAAATTCTTGCGAGTGACAGAAGCATCCTTTGTACCAGATATTTCGCATACTGTTACCGATTTTCCCTTCCCTCGCCCGACTCCATGGAGGCGCCGGGCATCCGGAGCCGGTCCGAGAGCTCACGGATGCGCCGGCAGCCTCCTCGCAGTCCCGCGCGCCGCCCCTGGCCCCGAGCCCCTCGGCTCCGTTGTGCTCCTGGGAGTGAGACGCCACGTCCCATTATCCCGCATATTATCTCCTTGTCACGAGGACAACAAATACCG... | GAGAAACAAAACGTTCTCTAATGAGCAATTACAGAGCGACAGGATTGTTCCCATAACAAATTCTTGCGAGTGACAGAAGCATCCTTTGTACCAGATATTTCGCATACTGTTACCGATTTTCCCTTCCCTCGCCCGACTCCATGGAGGCGCCGGGCATCCGGAGCCGGTCCGAGAGCTCACGGATGCGCCGGCAGCCTCCTCGCAGTCCCGCGCGCCGCCCCTGGCCCCGAGCCCCTCGGCTCCGTTGTGCTCCTGGGAGTGAGACGCCACGTCCCATTATCCCGCATATTATCTCCTTGTCACGAGGACAACAAATACCG... | pathogenic | 174,086 |
The genetic variant at chromosome 11, position 31801586, affecting gene PAX6 (paired box 6): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Aniridia_1', 'Irido-corneo-trabecular_dysgenesis'] | GAGAAACAAAACGTTCTCTAATGAGCAATTACAGAGCGACAGGATTGTTCCCATAACAAATTCTTGCGAGTGACAGAAGCATCCTTTGTACCAGATATTTCGCATACTGTTACCGATTTTCCCTTCCCTCGCCCGACTCCATGGAGGCGCCGGGCATCCGGAGCCGGTCCGAGAGCTCACGGATGCGCCGGCAGCCTCCTCGCAGTCCCGCGCGCCGCCCCTGGCCCCGAGCCCCTCGGCTCCGTTGTGCTCCTGGGAGTGAGACGCCACGTCCCATTATCCCGCATATTATCTCCTTGTCACGAGGACAACAAATACCG... | GAGAAACAAAACGTTCTCTAATGAGCAATTACAGAGCGACAGGATTGTTCCCATAACAAATTCTTGCGAGTGACAGAAGCATCCTTTGTACCAGATATTTCGCATACTGTTACCGATTTTCCCTTCCCTCGCCCGACTCCATGGAGGCGCCGGGCATCCGGAGCCGGTCCGAGAGCTCACGGATGCGCCGGCAGCCTCCTCGCAGTCCCGCGCGCCGCCCCTGGCCCCGAGCCCCTCGGCTCCGTTGTGCTCCTGGGAGTGAGACGCCACGTCCCATTATCCCGCATATTATCTCCTTGTCACGAGGACAACAAATACCG... | pathogenic | 174,087 |
Evaluate the clinical significance of the mutation at chromosome 11, position 31802728 in gene PAX6 (paired box 6): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Aniridia_1', 'Irido-corneo-trabecular_dysgenesis'] | TTGGGTTTTACCTTGCGTAGGTTGCCCTGGCACCGAAGTCCCCGGATACCAACCAGGGCGGGTGCCCCAGCTTCCGGTCTGCCCGTTCAACATCCTTAGTTTATCATACATGCCGTCTGCGCCCATCTGTTGCTTTTCGCTAGCCAGGTTGCGAAGAACTCTGTTTATTGATGACACCTGCAAATCAAACCAAAATCAAACCAAATGGTAGTGTCTCCTGAAGACACAGTCACCCATCTCAGCTCACCCACAACCTTAAAAAGCAACTCTCAACCCGTTAAAAAGCTCCCAGCCACCCCGGGACAGTGGGTGGATTTGCA... | TTGGGTTTTACCTTGCGTAGGTTGCCCTGGCACCGAAGTCCCCGGATACCAACCAGGGCGGGTGCCCCAGCTTCCGGTCTGCCCGTTCAACATCCTTAGTTTATCATACATGCCGTCTGCGCCCATCTGTTGCTTTTCGCTAGCCAGGTTGCGAAGAACTCTGTTTATTGATGACACCTGCAAATCAAACCAAAATCAAACCAAATGGTAGTGTCTCCTGAAGACACAGTCACCCATCTCAGCTCACCCACAACCTTAAAAAGCAACTCTCAACCCGTTAAAAAGCTCCCAGCCACCCCGGGACAGTGGGTGGATTTGCA... | pathogenic | 174,103 |
Variant at chromosome position 31802732, chromosome 11, gene PAX6 (paired box 6): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Aniridia_1', 'Irido-corneo-trabecular_dysgenesis'] | GTTTTACCTTGCGTAGGTTGCCCTGGCACCGAAGTCCCCGGATACCAACCAGGGCGGGTGCCCCAGCTTCCGGTCTGCCCGTTCAACATCCTTAGTTTATCATACATGCCGTCTGCGCCCATCTGTTGCTTTTCGCTAGCCAGGTTGCGAAGAACTCTGTTTATTGATGACACCTGCAAATCAAACCAAAATCAAACCAAATGGTAGTGTCTCCTGAAGACACAGTCACCCATCTCAGCTCACCCACAACCTTAAAAAGCAACTCTCAACCCGTTAAAAAGCTCCCAGCCACCCCGGGACAGTGGGTGGATTTGCAGATA... | GTTTTACCTTGCGTAGGTTGCCCTGGCACCGAAGTCCCCGGATACCAACCAGGGCGGGTGCCCCAGCTTCCGGTCTGCCCGTTCAACATCCTTAGTTTATCATACATGCCGTCTGCGCCCATCTGTTGCTTTTCGCTAGCCAGGTTGCGAAGAACTCTGTTTATTGATGACACCTGCAAATCAAACCAAAATCAAACCAAATGGTAGTGTCTCCTGAAGACACAGTCACCCATCTCAGCTCACCCACAACCTTAAAAAGCAACTCTCAACCCGTTAAAAAGCTCCCAGCCACCCCGGGACAGTGGGTGGATTTGCAGATA... | pathogenic | 174,105 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 11, position 31802735, gene PAX6 (paired box 6). What disease(s) is it linked to if pathogenic? | pathogenic; ['Aniridia_1', 'Irido-corneo-trabecular_dysgenesis'] | TTACCTTGCGTAGGTTGCCCTGGCACCGAAGTCCCCGGATACCAACCAGGGCGGGTGCCCCAGCTTCCGGTCTGCCCGTTCAACATCCTTAGTTTATCATACATGCCGTCTGCGCCCATCTGTTGCTTTTCGCTAGCCAGGTTGCGAAGAACTCTGTTTATTGATGACACCTGCAAATCAAACCAAAATCAAACCAAATGGTAGTGTCTCCTGAAGACACAGTCACCCATCTCAGCTCACCCACAACCTTAAAAAGCAACTCTCAACCCGTTAAAAAGCTCCCAGCCACCCCGGGACAGTGGGTGGATTTGCAGATACAC... | TTACCTTGCGTAGGTTGCCCTGGCACCGAAGTCCCCGGATACCAACCAGGGCGGGTGCCCCAGCTTCCGGTCTGCCCGTTCAACATCCTTAGTTTATCATACATGCCGTCTGCGCCCATCTGTTGCTTTTCGCTAGCCAGGTTGCGAAGAACTCTGTTTATTGATGACACCTGCAAATCAAACCAAAATCAAACCAAATGGTAGTGTCTCCTGAAGACACAGTCACCCATCTCAGCTCACCCACAACCTTAAAAAGCAACTCTCAACCCGTTAAAAAGCTCCCAGCCACCCCGGGACAGTGGGTGGATTTGCAGATACAC... | pathogenic | 174,107 |
For chromosome 11, position 31802779, gene PAX6 (paired box 6): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Aniridia_1', 'Irido-corneo-trabecular_dysgenesis'] | ACCAGGGCGGGTGCCCCAGCTTCCGGTCTGCCCGTTCAACATCCTTAGTTTATCATACATGCCGTCTGCGCCCATCTGTTGCTTTTCGCTAGCCAGGTTGCGAAGAACTCTGTTTATTGATGACACCTGCAAATCAAACCAAAATCAAACCAAATGGTAGTGTCTCCTGAAGACACAGTCACCCATCTCAGCTCACCCACAACCTTAAAAAGCAACTCTCAACCCGTTAAAAAGCTCCCAGCCACCCCGGGACAGTGGGTGGATTTGCAGATACACCGTGGAAAAAATGATAGCTATCACTTTGGGCATGGAAATTTAGT... | ACCAGGGCGGGTGCCCCAGCTTCCGGTCTGCCCGTTCAACATCCTTAGTTTATCATACATGCCGTCTGCGCCCATCTGTTGCTTTTCGCTAGCCAGGTTGCGAAGAACTCTGTTTATTGATGACACCTGCAAATCAAACCAAAATCAAACCAAATGGTAGTGTCTCCTGAAGACACAGTCACCCATCTCAGCTCACCCACAACCTTAAAAAGCAACTCTCAACCCGTTAAAAAGCTCCCAGCCACCCCGGGACAGTGGGTGGATTTGCAGATACACCGTGGAAAAAATGATAGCTATCACTTTGGGCATGGAAATTTAGT... | pathogenic | 174,109 |
Does the variant impacting PAX6 (paired box 6) on chromosome 11, position 31806913, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Aniridia_1', 'Irido-corneo-trabecular_dysgenesis'] | GATACCGCCGGCTGGTGCTTGCCCAGGAGACGCCAGGGCCAGAGCGCCACTCCCAGCATCGAAATGGCAGAGAGAAAGCGCAGCTCCAAATTCCCCTTCAGAGGTTAAGCCTCAATCATTGTGTCCCTTCCCTAGGGACTGCTGGCGCTCTCGCCCACTGGCGATGATTATGCGCCTAGAACTCGACCGCGAAGCAACTAATAGGAAAACATATGGTGTCAATTTGGATGCTCCGCGCCTCGCGCACACCCGGGAACGAGCGGCACAAAGCCCTGCCGGCCGGCCCGCGACCCCGCGCCCCTCGGGGCCTGCCAGCCGGG... | GATACCGCCGGCTGGTGCTTGCCCAGGAGACGCCAGGGCCAGAGCGCCACTCCCAGCATCGAAATGGCAGAGAGAAAGCGCAGCTCCAAATTCCCCTTCAGAGGTTAAGCCTCAATCATTGTGTCCCTTCCCTAGGGACTGCTGGCGCTCTCGCCCACTGGCGATGATTATGCGCCTAGAACTCGACCGCGAAGCAACTAATAGGAAAACATATGGTGTCAATTTGGATGCTCCGCGCCTCGCGCACACCCGGGAACGAGCGGCACAAAGCCCTGCCGGCCGGCCCGCGACCCCGCGCCCCTCGGGGCCTGCCAGCCGGG... | pathogenic | 174,119 |
Is the chromosome 11, position 31806926 variant in PAX6 (paired box 6) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Aniridia_1', 'Irido-corneo-trabecular_dysgenesis'] | GGTGCTTGCCCAGGAGACGCCAGGGCCAGAGCGCCACTCCCAGCATCGAAATGGCAGAGAGAAAGCGCAGCTCCAAATTCCCCTTCAGAGGTTAAGCCTCAATCATTGTGTCCCTTCCCTAGGGACTGCTGGCGCTCTCGCCCACTGGCGATGATTATGCGCCTAGAACTCGACCGCGAAGCAACTAATAGGAAAACATATGGTGTCAATTTGGATGCTCCGCGCCTCGCGCACACCCGGGAACGAGCGGCACAAAGCCCTGCCGGCCGGCCCGCGACCCCGCGCCCCTCGGGGCCTGCCAGCCGGGCCGCAGCGACAAA... | GGTGCTTGCCCAGGAGACGCCAGGGCCAGAGCGCCACTCCCAGCATCGAAATGGCAGAGAGAAAGCGCAGCTCCAAATTCCCCTTCAGAGGTTAAGCCTCAATCATTGTGTCCCTTCCCTAGGGACTGCTGGCGCTCTCGCCCACTGGCGATGATTATGCGCCTAGAACTCGACCGCGAAGCAACTAATAGGAAAACATATGGTGTCAATTTGGATGCTCCGCGCCTCGCGCACACCCGGGAACGAGCGGCACAAAGCCCTGCCGGCCGGCCCGCGACCCCGCGCCCCTCGGGGCCTGCCAGCCGGGCCGCAGCGACAAA... | pathogenic | 174,121 |
Assess the variant on chromosome 11, position 32396415, impacting WT1 (WT1 transcription factor): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | benign | CTGAGAAACTTTCTCGGATGACCTTAGTTCAAACTGATACCCTCCAAACCCCTCGGTACCTCCTGTCTCTGATTTAGTACATGATCATGTACTCTCTCAGTCACTTTTCATTTCTTTATATCCTAGCTCCCAAACAAACCAGGAACTCTTTGAGAAGGAGGATTATAACCTGCAGTTAAAAAGAAGGAGTTTGAGTCCTCTTTCTGCTATATCCTATACTCTTCATAAATGTTTTGTGAGTGAGGATTAAATGAAATATACATGTAGAGAGCCTGACACCCAAAAAGTACTTAATATAACAGTCTGTACTGTTGTTATAA... | CTGAGAAACTTTCTCGGATGACCTTAGTTCAAACTGATACCCTCCAAACCCCTCGGTACCTCCTGTCTCTGATTTAGTACATGATCATGTACTCTCTCAGTCACTTTTCATTTCTTTATATCCTAGCTCCCAAACAAACCAGGAACTCTTTGAGAAGGAGGATTATAACCTGCAGTTAAAAAGAAGGAGTTTGAGTCCTCTTTCTGCTATATCCTATACTCTTCATAAATGTTTTGTGAGTGAGGATTAAATGAAATATACATGTAGAGAGCCTGACACCCAAAAAGTACTTAATATAACAGTCTGTACTGTTGTTATAA... | benign | 174,185 |
Variant in gene WT1 (WT1 transcription factor), located at chromosome 11 position 32428008: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Wilms_tumor_1'] | AAATCCACCATAGGCACCCTGGAGAATTGCTATTAAACCAGTGGTAATGATCGCTTTTTCCTGGACTCCTCTTTCAAGGCTGCCAGGTCCTCTGATGGACCCCTTCCTAGGGTCCCACAGGGTGAGTCTCGGCTTGGGAGAGGGAAGTAACGGATGTGTGTGTAGCTTCGAGTCACTGAGGCACCAGACTGCAAGGTCTTCCAGTCCCCAACCCCCAAGAACACCTCCCATATCGACAGTGCCCACTCCCGCATCAAGGTCTTCTCTCAGCCTAGTGTGACACACCAACTGAGTCCACAGGGAGCTAAGGAGGAAGGGGT... | AAATCCACCATAGGCACCCTGGAGAATTGCTATTAAACCAGTGGTAATGATCGCTTTTTCCTGGACTCCTCTTTCAAGGCTGCCAGGTCCTCTGATGGACCCCTTCCTAGGGTCCCACAGGGTGAGTCTCGGCTTGGGAGAGGGAAGTAACGGATGTGTGTGTAGCTTCGAGTCACTGAGGCACCAGACTGCAAGGTCTTCCAGTCCCCAACCCCCAAGAACACCTCCCATATCGACAGTGCCCACTCCCGCATCAAGGTCTTCTCTCAGCCTAGTGTGACACACCAACTGAGTCCACAGGGAGCTAAGGAGGAAGGGGT... | pathogenic | 174,228 |
Variant at chromosome 11, position 32430545, gene WT1: clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | benign | CCAGCGAGCCCTGCTGGCCCATGGGATCCTCATGCTTGAATGAGTGGTTGGGGAACTGCGCCGCATGGTGCGAGGGCGTGTGACCGTAGCTGGGCGTCCCGTCGAAGGTGACCGTGCTGTAACCTGCGGGAGCGGCGGAGAGAAGCACAGTGTCAGCGGTGCTCTCGCAAGACGGGGCAGTGGGTCTGAACCAGCCACGGGCGGGGGGGGTGTGCGCTGAACCCCGCATTCGGACCCCCAGCGGAGGAGAATCCAGCCCCACAAGCCTCCAGGACTTTCGGCAGGAAGACGGCCCAAGTCCCTGGATGTGACCTTGGGAC... | CCAGCGAGCCCTGCTGGCCCATGGGATCCTCATGCTTGAATGAGTGGTTGGGGAACTGCGCCGCATGGTGCGAGGGCGTGTGACCGTAGCTGGGCGTCCCGTCGAAGGTGACCGTGCTGTAACCTGCGGGAGCGGCGGAGAGAAGCACAGTGTCAGCGGTGCTCTCGCAAGACGGGGCAGTGGGTCTGAACCAGCCACGGGCGGGGGGGGTGTGCGCTGAACCCCGCATTCGGACCCCCAGCGGAGGAGAATCCAGCCCCACAAGCCTCCAGGACTTTCGGCAGGAAGACGGCCCAAGTCCCTGGATGTGACCTTGGGAC... | benign | 174,258 |
The mutation in gene WT1 at chromosome 11, position 32434905—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['11p_partial_monosomy_syndrome', 'Drash_syndrome', 'Frasier_syndrome', 'Wilms_tumor_1'] | TAAAAAGATAATGGCGTAGTAGTATTTTGTGCCCCAGGGGCATGGATTCGATGGTTTCTCAACCGCCTCCAAATAGCACACATGCAGACAGTGCTCTCGGATTCATTGTTTCTCAGTCACAGATGTTTAGATGGGTTGCCGAGTTCCATATTTAAAGCCCCAAGAGGGTGGTGGGTAGCGCTTCTGCATCTATGGAGTATAACTTCAAGCCGGACCCAATCTCCAGGTTGCCCATCTCAGCTGTCCTCTTATAGACGGGGACACTGAGACCTAGAAACTCCCCAAAAGTAACACCAGCCTGCTAAACAAAGGTGGCGCGA... | TAAAAAGATAATGGCGTAGTAGTATTTTGTGCCCCAGGGGCATGGATTCGATGGTTTCTCAACCGCCTCCAAATAGCACACATGCAGACAGTGCTCTCGGATTCATTGTTTCTCAGTCACAGATGTTTAGATGGGTTGCCGAGTTCCATATTTAAAGCCCCAAGAGGGTGGTGGGTAGCGCTTCTGCATCTATGGAGTATAACTTCAAGCCGGACCCAATCTCCAGGTTGCCCATCTCAGCTGTCCTCTTATAGACGGGGACACTGAGACCTAGAAACTCCCCAAAAGTAACACCAGCCTGCTAAACAAAGGTGGCGCGA... | pathogenic | 174,286 |
Variant chromosome 11, position 32434950, gene WT1: benign or pathogenic? Disease(s)? | pathogenic; ['11p_partial_monosomy_syndrome', 'Drash_syndrome', 'Frasier_syndrome', 'Wilms_tumor_1'] | ATTCGATGGTTTCTCAACCGCCTCCAAATAGCACACATGCAGACAGTGCTCTCGGATTCATTGTTTCTCAGTCACAGATGTTTAGATGGGTTGCCGAGTTCCATATTTAAAGCCCCAAGAGGGTGGTGGGTAGCGCTTCTGCATCTATGGAGTATAACTTCAAGCCGGACCCAATCTCCAGGTTGCCCATCTCAGCTGTCCTCTTATAGACGGGGACACTGAGACCTAGAAACTCCCCAAAAGTAACACCAGCCTGCTAAACAAAGGTGGCGCGATCTGATCAAAGAACACAAGCCTCAGCGACCAGTAAGTTGTCCCAA... | ATTCGATGGTTTCTCAACCGCCTCCAAATAGCACACATGCAGACAGTGCTCTCGGATTCATTGTTTCTCAGTCACAGATGTTTAGATGGGTTGCCGAGTTCCATATTTAAAGCCCCAAGAGGGTGGTGGGTAGCGCTTCTGCATCTATGGAGTATAACTTCAAGCCGGACCCAATCTCCAGGTTGCCCATCTCAGCTGTCCTCTTATAGACGGGGACACTGAGACCTAGAAACTCCCCAAAAGTAACACCAGCCTGCTAAACAAAGGTGGCGCGATCTGATCAAAGAACACAAGCCTCAGCGACCAGTAAGTTGTCCCAA... | pathogenic | 174,291 |
Gene mutation in PDHX (pyruvate dehydrogenase complex component X) at chromosome 11, position 34916524—is it benign or pathogenic? If pathogenic, specify the disease(s). | benign | TGTTTTTATGTATTTGTACAAAACCAGACAAATACAAATATCTAGAGGGGCTCATGTATTTAACTAGATATGCAAATCCAGTGTGAGTAGTGGAAGCTGTGGTAACCTGGCCAGCACCCTCTGTAAAGGTGGTGTTCACTAGTAACCGCAATCCAGATCCCATGAAAAAATAAGGGCCCAATGTCACCATGTGTTCTGAGGTTTTAAAAGAAGCTGAAATGATTCTGGATTTTGAAATGTTGGCTTGGCAGGGCGTGGTGGCTTACACCTGTAATCCCAGCACTTTGGGCAGCTTAGGGGGGTGGATCACCTGAGATAAC... | TGTTTTTATGTATTTGTACAAAACCAGACAAATACAAATATCTAGAGGGGCTCATGTATTTAACTAGATATGCAAATCCAGTGTGAGTAGTGGAAGCTGTGGTAACCTGGCCAGCACCCTCTGTAAAGGTGGTGTTCACTAGTAACCGCAATCCAGATCCCATGAAAAAATAAGGGCCCAATGTCACCATGTGTTCTGAGGTTTTAAAAGAAGCTGAAATGATTCTGGATTTTGAAATGTTGGCTTGGCAGGGCGTGGTGGCTTACACCTGTAATCCCAGCACTTTGGGCAGCTTAGGGGGGTGGATCACCTGAGATAAC... | benign | 174,386 |
Classify the chromosome 11 variant at position 34931387 affecting gene PDHX (pyruvate dehydrogenase complex component X) as benign or pathogenic. If pathogenic, which disease(s) is associated? | benign | TCATGCCTCAGCCCCCCAAATAGCTGGGATTACAGGCGTGTGCCATCACGCCTGGCTAATTTTTAAATTTTAATAGAGTGGGGTTTCGCCATGTTGGCCAGGCTGGTCTCAAACTCCTGGCCTCAAATCTGCCCACCTCGGCAAAAGTGGTGTTTTAATACAAGAATTCTGCATGTTCAAGGTGGGGAAAAGGCTTATAAGGATATTTGATTAGACATATGAAGAATGCTCACATGGATCTGATATGTCTGGTTTGCTATATTTGGATTTCTGAGTGAATATAAGCTATCAATAACCATTAATTAATTGATGATCCATAT... | TCATGCCTCAGCCCCCCAAATAGCTGGGATTACAGGCGTGTGCCATCACGCCTGGCTAATTTTTAAATTTTAATAGAGTGGGGTTTCGCCATGTTGGCCAGGCTGGTCTCAAACTCCTGGCCTCAAATCTGCCCACCTCGGCAAAAGTGGTGTTTTAATACAAGAATTCTGCATGTTCAAGGTGGGGAAAAGGCTTATAAGGATATTTGATTAGACATATGAAGAATGCTCACATGGATCTGATATGTCTGGTTTGCTATATTTGGATTTCTGAGTGAATATAAGCTATCAATAACCATTAATTAATTGATGATCCATAT... | benign | 174,401 |
Regarding the variant at chromosome 11 and position 34957365, affecting gene PDHX (pyruvate dehydrogenase complex component X): benign or pathogenic? If pathogenic, what are the associated illness(es)? | benign | ATTTGCCTACTACAGTGTAAGCAAATGCTTACAGGAAATTAGCACACCTCTGAAAGATCTCTGCACCAAAGGAATAGAAAAGGTTGAAGAAATTATCTTAAATTCATATAGAGATTTTAATGACTTTAAATGGAATTATAATCAACTGTATTTTATCTTCTGTTATATATTCAAGTTGTATGGTTGTATATCACTTGTCCTTGTCCATTGTATTTGGGTTTCATGCTTCATGGTGTCACTTTTTTAAATAGAAAAAAATGTGAATAGTTAAAAATAAATTTTATTTGATATTTAGATAATGGTAAAAATTGAAATGATGA... | ATTTGCCTACTACAGTGTAAGCAAATGCTTACAGGAAATTAGCACACCTCTGAAAGATCTCTGCACCAAAGGAATAGAAAAGGTTGAAGAAATTATCTTAAATTCATATAGAGATTTTAATGACTTTAAATGGAATTATAATCAACTGTATTTTATCTTCTGTTATATATTCAAGTTGTATGGTTGTATATCACTTGTCCTTGTCCATTGTATTTGGGTTTCATGCTTCATGGTGTCACTTTTTTAAATAGAAAAAAATGTGAATAGTTAAAAATAAATTTTATTTGATATTTAGATAATGGTAAAAATTGAAATGATGA... | benign | 174,410 |
Is the genetic mutation found on chromosome 11 at position 34957459, within the gene PDHX (pyruvate dehydrogenase complex component X), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Pyruvate_dehydrogenase_E3-binding_protein_deficiency'] | ATCTTAAATTCATATAGAGATTTTAATGACTTTAAATGGAATTATAATCAACTGTATTTTATCTTCTGTTATATATTCAAGTTGTATGGTTGTATATCACTTGTCCTTGTCCATTGTATTTGGGTTTCATGCTTCATGGTGTCACTTTTTTAAATAGAAAAAAATGTGAATAGTTAAAAATAAATTTTATTTGATATTTAGATAATGGTAAAAATTGAAATGATGATAAATGCTGTTTATTGCCTACTTGTGAAGGTGTCAATGTTACGTTGGTAGAGTATATATGGAATCATTTATATGATTTACAGTAAATGAAACAG... | ATCTTAAATTCATATAGAGATTTTAATGACTTTAAATGGAATTATAATCAACTGTATTTTATCTTCTGTTATATATTCAAGTTGTATGGTTGTATATCACTTGTCCTTGTCCATTGTATTTGGGTTTCATGCTTCATGGTGTCACTTTTTTAAATAGAAAAAAATGTGAATAGTTAAAAATAAATTTTATTTGATATTTAGATAATGGTAAAAATTGAAATGATGATAAATGCTGTTTATTGCCTACTTGTGAAGGTGTCAATGTTACGTTGGTAGAGTATATATGGAATCATTTATATGATTTACAGTAAATGAAACAG... | pathogenic | 174,412 |
Is chromosome 11, position 34960432, gene PDHX (pyruvate dehydrogenase complex component X) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Pyruvate_dehydrogenase_E3-binding_protein_deficiency'] | TCGGTCTTCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGAATTACAGGCATGTGCCACCATGCCTGGCTAATTTTTTTGTATTTTTGGTAGAGATGGAGTTTCTCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACTTCATGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCTGGCCTGCTTTTTGAAGTACTGATTTTAAATTCCTAGTGCAGTGTTTCTGACTCTGTTGCCTTGACTCCCATTTACTGTCTCCTCTTTCATTTACCCTAAAAATTGGA... | TCGGTCTTCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGAATTACAGGCATGTGCCACCATGCCTGGCTAATTTTTTTGTATTTTTGGTAGAGATGGAGTTTCTCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACTTCATGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCTGGCCTGCTTTTTGAAGTACTGATTTTAAATTCCTAGTGCAGTGTTTCTGACTCTGTTGCCTTGACTCCCATTTACTGTCTCCTCTTTCATTTACCCTAAAAATTGGA... | pathogenic | 174,418 |
Variant at chromosome 11, position 34966704, gene PDHX (pyruvate dehydrogenase complex component X): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Inborn_genetic_diseases', 'Pyruvate_dehydrogenase_E3-binding_protein_deficiency'] | CAATTTTGTTCTTGCTTCTTTATGATTAACCTACCCAAGAACCTTAATTACTACAGAGATAAAACTAAACTGCTTTTTAAAAAATAAAGTAGCAGTAATAGTTATGCTAAATATGTAATATTAGCATAACTAATATTAGCTATTAGCATAACTAATATTAGCTATTAGCATAACTAATATTAGCTAGCTATTAGCATATTATTAGCATAACTAAATATTACATATTACTAAATATGCTAATAAGTAATAGTTATGCTAAAAATGTGTCAATTTAGTGTCAGCAACCTTTTTTTTAAATAGATGTATTCGGGCATTAACGA... | CAATTTTGTTCTTGCTTCTTTATGATTAACCTACCCAAGAACCTTAATTACTACAGAGATAAAACTAAACTGCTTTTTAAAAAATAAAGTAGCAGTAATAGTTATGCTAAATATGTAATATTAGCATAACTAATATTAGCTATTAGCATAACTAATATTAGCTATTAGCATAACTAATATTAGCTAGCTATTAGCATATTATTAGCATAACTAAATATTACATATTACTAAATATGCTAATAAGTAATAGTTATGCTAAAAATGTGTCAATTTAGTGTCAGCAACCTTTTTTTTAAATAGATGTATTCGGGCATTAACGA... | pathogenic | 174,427 |
Variant on chromosome 11, at position 34966789, affecting PDHX (pyruvate dehydrogenase complex component X): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Pyruvate_dehydrogenase_E3-binding_protein_deficiency'] | AAAGTAGCAGTAATAGTTATGCTAAATATGTAATATTAGCATAACTAATATTAGCTATTAGCATAACTAATATTAGCTATTAGCATAACTAATATTAGCTAGCTATTAGCATATTATTAGCATAACTAAATATTACATATTACTAAATATGCTAATAAGTAATAGTTATGCTAAAAATGTGTCAATTTAGTGTCAGCAACCTTTTTTTTAAATAGATGTATTCGGGCATTAACGATACAGATTTTTGCACCCCAGTTAGACTGTTCCTGCTTGTGTTGATATTCTATTATTGCATAACAAGTTACAGTAAACTTACCAGC... | AAAGTAGCAGTAATAGTTATGCTAAATATGTAATATTAGCATAACTAATATTAGCTATTAGCATAACTAATATTAGCTATTAGCATAACTAATATTAGCTAGCTATTAGCATATTATTAGCATAACTAAATATTACATATTACTAAATATGCTAATAAGTAATAGTTATGCTAAAAATGTGTCAATTTAGTGTCAGCAACCTTTTTTTTAAATAGATGTATTCGGGCATTAACGATACAGATTTTTGCACCCCAGTTAGACTGTTCCTGCTTGTGTTGATATTCTATTATTGCATAACAAGTTACAGTAAACTTACCAGC... | pathogenic | 174,430 |
Mutation found at chromosome 11 position 36573509, gene RAG1 (recombination activating 1): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Combined_immunodeficiency_due_to_partial_RAG1_deficiency', 'Combined_immunodeficiency_with_skin_granulomas', 'Severe_combined_immunodeficiency,_autosomal_recessive,_T_cell-negative,_B_cell-negative,_NK_cell-positive'] | TTGGGCTGCAGTTGAAATATTTTTTGAGGTTAATGAGACATTTGAAATGGCCGTGTATTGTTTAACTCTTGCATAGTCCTGCATAGGGAACAATCTAATAGGATTTCTCTGTGAATCAAGTCTTAGAAATTTGCTTTTAATTTTTATGAAAAACGCCCATTTCTTTGTTTTTGAGACAGAGTCCTGCTCTGTCATCCAGGCTGGGTTGCAGTGGCGTGATCTTGGCCCACTGCAATCTCTGCCTCCTGGGTTCAGGCAATTTTCCTGTCTCAGCCTCCCGAGTAGCTGGGATTTCAAGTGCCTGCCACCATGCCCGGCTA... | TTGGGCTGCAGTTGAAATATTTTTTGAGGTTAATGAGACATTTGAAATGGCCGTGTATTGTTTAACTCTTGCATAGTCCTGCATAGGGAACAATCTAATAGGATTTCTCTGTGAATCAAGTCTTAGAAATTTGCTTTTAATTTTTATGAAAAACGCCCATTTCTTTGTTTTTGAGACAGAGTCCTGCTCTGTCATCCAGGCTGGGTTGCAGTGGCGTGATCTTGGCCCACTGCAATCTCTGCCTCCTGGGTTCAGGCAATTTTCCTGTCTCAGCCTCCCGAGTAGCTGGGATTTCAAGTGCCTGCCACCATGCCCGGCTA... | pathogenic | 174,524 |
Gene RAG1 (recombination activating 1) variant at chromosome 11, position 36573559—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Combined_immunodeficiency_due_to_partial_RAG1_deficiency', 'Combined_immunodeficiency_with_skin_granulomas', 'Histiocytic_medullary_reticulosis', 'RAG1-related_disorder', 'Recombinase_activating_gene_1_deficiency', 'Severe_combined_immunodeficiency,_autosomal_recessive,_T_cell-negative,_B_cell-negative,_N... | CCGTGTATTGTTTAACTCTTGCATAGTCCTGCATAGGGAACAATCTAATAGGATTTCTCTGTGAATCAAGTCTTAGAAATTTGCTTTTAATTTTTATGAAAAACGCCCATTTCTTTGTTTTTGAGACAGAGTCCTGCTCTGTCATCCAGGCTGGGTTGCAGTGGCGTGATCTTGGCCCACTGCAATCTCTGCCTCCTGGGTTCAGGCAATTTTCCTGTCTCAGCCTCCCGAGTAGCTGGGATTTCAAGTGCCTGCCACCATGCCCGGCTAAATTTTTTTGTATTTTTGGTACAGATGGAGTATCACCATGTTGGCCAGGC... | CCGTGTATTGTTTAACTCTTGCATAGTCCTGCATAGGGAACAATCTAATAGGATTTCTCTGTGAATCAAGTCTTAGAAATTTGCTTTTAATTTTTATGAAAAACGCCCATTTCTTTGTTTTTGAGACAGAGTCCTGCTCTGTCATCCAGGCTGGGTTGCAGTGGCGTGATCTTGGCCCACTGCAATCTCTGCCTCCTGGGTTCAGGCAATTTTCCTGTCTCAGCCTCCCGAGTAGCTGGGATTTCAAGTGCCTGCCACCATGCCCGGCTAAATTTTTTTGTATTTTTGGTACAGATGGAGTATCACCATGTTGGCCAGGC... | pathogenic | 174,526 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 11, position 36573822, gene RAG1 (recombination activating 1). What disease(s) is it linked to if pathogenic? | pathogenic; ['Combined_immunodeficiency_due_to_partial_RAG1_deficiency', 'Combined_immunodeficiency_with_skin_granulomas', 'Histiocytic_medullary_reticulosis', 'Severe_combined_immunodeficiency,_B_cell-negative', 'Severe_combined_immunodeficiency,_autosomal_recessive,_T_cell-negative,_B_cell-negative,_NK_cell-positive'... | CCGGCTAAATTTTTTTGTATTTTTGGTACAGATGGAGTATCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATTCACCAGCCTTGACCTCCCAAAGTGTTGGGATCACAGGCATGAGCCACTGTGCCTGTGCCCCAAAACACCAATTTCTGATGTGTGATGCATGTAAGATAGAACAAACTTCAGTAAAGCGGGGACTTGAAAAGAGGCTTTGGTAACAGCTGTCAGCATTAACCCTTGCCCCTCCGTACCTCCTAATCCCACCCCTGCTCAAAGTATGTTCATCTGAGAATTTGTCTCCATAACTAT... | CCGGCTAAATTTTTTTGTATTTTTGGTACAGATGGAGTATCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATTCACCAGCCTTGACCTCCCAAAGTGTTGGGATCACAGGCATGAGCCACTGTGCCTGTGCCCCAAAACACCAATTTCTGATGTGTGATGCATGTAAGATAGAACAAACTTCAGTAAAGCGGGGACTTGAAAAGAGGCTTTGGTAACAGCTGTCAGCATTAACCCTTGCCCCTCCGTACCTCCTAATCCCACCCCTGCTCAAAGTATGTTCATCTGAGAATTTGTCTCCATAACTAT... | pathogenic | 174,532 |
A genetic variant on chromosome 11, position 36573915, affects the gene RAG1 (recombination activating 1). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Combined_immunodeficiency_due_to_partial_RAG1_deficiency', 'Combined_immunodeficiency_with_skin_granulomas', 'Severe_combined_immunodeficiency,_autosomal_recessive,_T_cell-negative,_B_cell-negative,_NK_cell-positive'] | CTTGACCTCCCAAAGTGTTGGGATCACAGGCATGAGCCACTGTGCCTGTGCCCCAAAACACCAATTTCTGATGTGTGATGCATGTAAGATAGAACAAACTTCAGTAAAGCGGGGACTTGAAAAGAGGCTTTGGTAACAGCTGTCAGCATTAACCCTTGCCCCTCCGTACCTCCTAATCCCACCCCTGCTCAAAGTATGTTCATCTGAGAATTTGTCTCCATAACTATGTGACTATAAAAATTCTCATCGATTTTGTTAGTTGATCAATTGAGGGAAAAACATATGTTACTTGATATAACTGGTGGGTCAAAAGAATTAAC... | CTTGACCTCCCAAAGTGTTGGGATCACAGGCATGAGCCACTGTGCCTGTGCCCCAAAACACCAATTTCTGATGTGTGATGCATGTAAGATAGAACAAACTTCAGTAAAGCGGGGACTTGAAAAGAGGCTTTGGTAACAGCTGTCAGCATTAACCCTTGCCCCTCCGTACCTCCTAATCCCACCCCTGCTCAAAGTATGTTCATCTGAGAATTTGTCTCCATAACTATGTGACTATAAAAATTCTCATCGATTTTGTTAGTTGATCAATTGAGGGAAAAACATATGTTACTTGATATAACTGGTGGGTCAAAAGAATTAAC... | pathogenic | 174,538 |
Evaluate the clinical significance of the mutation at chromosome 11, position 36574040 in gene RAG1 (recombination activating 1): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Combined_immunodeficiency_due_to_partial_RAG1_deficiency', 'Combined_immunodeficiency_with_skin_granulomas', 'Severe_combined_immunodeficiency,_autosomal_recessive,_T_cell-negative,_B_cell-negative,_NK_cell-positive'] | GGCTTTGGTAACAGCTGTCAGCATTAACCCTTGCCCCTCCGTACCTCCTAATCCCACCCCTGCTCAAAGTATGTTCATCTGAGAATTTGTCTCCATAACTATGTGACTATAAAAATTCTCATCGATTTTGTTAGTTGATCAATTGAGGGAAAAACATATGTTACTTGATATAACTGGTGGGTCAAAAGAATTAACCCAGGCAAATTTGAGATAGGTGGATGGGATGATGGATTGAAAATACAGCTGCTCTCTTTCCAATCATGTACTAAGTAATTTGGGAAAGATTGATCTAATTGGGTCTAGAGAGTACACTTCACATG... | GGCTTTGGTAACAGCTGTCAGCATTAACCCTTGCCCCTCCGTACCTCCTAATCCCACCCCTGCTCAAAGTATGTTCATCTGAGAATTTGTCTCCATAACTATGTGACTATAAAAATTCTCATCGATTTTGTTAGTTGATCAATTGAGGGAAAAACATATGTTACTTGATATAACTGGTGGGTCAAAAGAATTAACCCAGGCAAATTTGAGATAGGTGGATGGGATGATGGATTGAAAATACAGCTGCTCTCTTTCCAATCATGTACTAAGTAATTTGGGAAAGATTGATCTAATTGGGTCTAGAGAGTACACTTCACATG... | pathogenic | 174,543 |
Mutation found at chromosome 11 position 36574078, gene RAG1 (recombination activating 1): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Combined_immunodeficiency_due_to_partial_RAG1_deficiency', 'Combined_immunodeficiency_with_skin_granulomas', 'Histiocytic_medullary_reticulosis', 'Recombinase_activating_gene_1_deficiency', 'Severe_combined_immunodeficiency,_autosomal_recessive,_T_cell-negative,_B_cell-negative,_NK_cell-positive'] | CCGTACCTCCTAATCCCACCCCTGCTCAAAGTATGTTCATCTGAGAATTTGTCTCCATAACTATGTGACTATAAAAATTCTCATCGATTTTGTTAGTTGATCAATTGAGGGAAAAACATATGTTACTTGATATAACTGGTGGGTCAAAAGAATTAACCCAGGCAAATTTGAGATAGGTGGATGGGATGATGGATTGAAAATACAGCTGCTCTCTTTCCAATCATGTACTAAGTAATTTGGGAAAGATTGATCTAATTGGGTCTAGAGAGTACACTTCACATGGCATTGTTTGACTTTTTTTCTGCATCGCTAGCGATCTG... | CCGTACCTCCTAATCCCACCCCTGCTCAAAGTATGTTCATCTGAGAATTTGTCTCCATAACTATGTGACTATAAAAATTCTCATCGATTTTGTTAGTTGATCAATTGAGGGAAAAACATATGTTACTTGATATAACTGGTGGGTCAAAAGAATTAACCCAGGCAAATTTGAGATAGGTGGATGGGATGATGGATTGAAAATACAGCTGCTCTCTTTCCAATCATGTACTAAGTAATTTGGGAAAGATTGATCTAATTGGGTCTAGAGAGTACACTTCACATGGCATTGTTTGACTTTTTTTCTGCATCGCTAGCGATCTG... | pathogenic | 174,545 |
Clinical impact (benign or pathogenic) of the variant at chromosome 11, location 36574440, gene RAG1 (recombination activating 1): what disease(s) if pathogenic? | pathogenic; ['Combined_immunodeficiency_due_to_partial_RAG1_deficiency', 'Combined_immunodeficiency_with_skin_granulomas', 'Histiocytic_medullary_reticulosis', 'Severe_combined_immunodeficiency,_autosomal_recessive,_T_cell-negative,_B_cell-negative,_NK_cell-positive'] | TTGCCAATGTTTTTTACCAGAAGAGAAACATTACTCCCACCTCTTCTTATTATGTTACAAACTATAGTGCTAATGACCATCGACCAACAGTGACTTTCAGGATGACCTGTGTGAGTTTTATCTGAAACCATGTGAATTTTTCATCTTAAAAGTCCCTTAGAATCTCAGTCTATGTACACTCAGGTTTGTTGCAGGTTTAGAGTTCCGTGTTTTTTGTTTCTAATGTAGACACAGCCTTATAATTTACAACAGCATTCACTAATTAAAATTGTAAGCATAATTACTATCCACGATACTTATTATTAGTTTGCATTCATAAA... | TTGCCAATGTTTTTTACCAGAAGAGAAACATTACTCCCACCTCTTCTTATTATGTTACAAACTATAGTGCTAATGACCATCGACCAACAGTGACTTTCAGGATGACCTGTGTGAGTTTTATCTGAAACCATGTGAATTTTTCATCTTAAAAGTCCCTTAGAATCTCAGTCTATGTACACTCAGGTTTGTTGCAGGTTTAGAGTTCCGTGTTTTTTGTTTCTAATGTAGACACAGCCTTATAATTTACAACAGCATTCACTAATTAAAATTGTAAGCATAATTACTATCCACGATACTTATTATTAGTTTGCATTCATAAA... | pathogenic | 174,552 |
Is the genetic mutation found on chromosome 11 at position 36574668, within the gene RAG1 (recombination activating 1), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Combined_immunodeficiency_due_to_partial_RAG1_deficiency', 'Combined_immunodeficiency_with_skin_granulomas', 'Severe_combined_immunodeficiency,_autosomal_recessive,_T_cell-negative,_B_cell-negative,_NK_cell-positive'] | ACACAGCCTTATAATTTACAACAGCATTCACTAATTAAAATTGTAAGCATAATTACTATCCACGATACTTATTATTAGTTTGCATTCATAAAGCTCAAAATTCACTTCATCCTTTCAAGTAGTGAATAATTAGTTTCTTTGGGTTTGCAGCTTTATCATCCTTTTATGACCCATTTGGAAGAAATAAACAACCAACCCCCTGGAAGACTGCTTTAAAAAGCTGGAAATACATTGTCCAGCTAGTACAATGAGGCTAATACAATGTGGAAAATATTACTTTTCTTTGATTTTAGTAGCCTGTTTATCTTTACATTTACTGA... | ACACAGCCTTATAATTTACAACAGCATTCACTAATTAAAATTGTAAGCATAATTACTATCCACGATACTTATTATTAGTTTGCATTCATAAAGCTCAAAATTCACTTCATCCTTTCAAGTAGTGAATAATTAGTTTCTTTGGGTTTGCAGCTTTATCATCCTTTTATGACCCATTTGGAAGAAATAAACAACCAACCCCCTGGAAGACTGCTTTAAAAAGCTGGAAATACATTGTCCAGCTAGTACAATGAGGCTAATACAATGTGGAAAATATTACTTTTCTTTGATTTTAGTAGCCTGTTTATCTTTACATTTACTGA... | pathogenic | 174,566 |
Does the chromosome 11 mutation at position 36574914 within gene RAG1 (recombination activating 1) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Combined_immunodeficiency_due_to_partial_RAG1_deficiency', 'Combined_immunodeficiency_with_skin_granulomas', 'Histiocytic_medullary_reticulosis', 'Severe_combined_immunodeficiency,_autosomal_recessive,_T_cell-negative,_B_cell-negative,_NK_cell-positive'] | AATGAGGCTAATACAATGTGGAAAATATTACTTTTCTTTGATTTTAGTAGCCTGTTTATCTTTACATTTACTGAACAAATAACTATTGAGCACCTAATGTATACTGGGACCCTTGGGGAGGCAAAGATGAATCAAAGATTCTGTCCTTAAAGACCTTAAGGTTTTTGTGGAAGGAAATAAAACTTTACATGTATATATTTAAGCACTTATATGTGTGTAACAGGTATAAGTAACCATAAACACTGTCAGAAGAGGAAATAACTCTATGATCAGCACCTAACATGATATATTAAGGTAGAAGATTTAATACATATCTTTTG... | AATGAGGCTAATACAATGTGGAAAATATTACTTTTCTTTGATTTTAGTAGCCTGTTTATCTTTACATTTACTGAACAAATAACTATTGAGCACCTAATGTATACTGGGACCCTTGGGGAGGCAAAGATGAATCAAAGATTCTGTCCTTAAAGACCTTAAGGTTTTTGTGGAAGGAAATAAAACTTTACATGTATATATTTAAGCACTTATATGTGTGTAACAGGTATAAGTAACCATAAACACTGTCAGAAGAGGAAATAACTCTATGATCAGCACCTAACATGATATATTAAGGTAGAAGATTTAATACATATCTTTTG... | pathogenic | 174,573 |
Clinical significance of chromosome 11, position 36575446, gene RAG1 (recombination activating 1): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Combined_immunodeficiency_due_to_partial_RAG1_deficiency', 'Combined_immunodeficiency_with_skin_granulomas', 'Severe_combined_immunodeficiency,_autosomal_recessive,_T_cell-negative,_B_cell-negative,_NK_cell-positive'] | CTGTTCCGGGTGAGATCCTTTGAAAAGACACCTGAAGAAGCTCAAAAGGAAAAGAAGGATTCCTTTGAGGGGAAACCCTCTCTGGAGCAATCTCCAGCAGTCCTGGACAAGGCTGATGGTCAGAAGCCAGTCCCAACTCAGCCATTGTTAAAAGCCCACCCTAAGTTTTCAAAGAAATTTCACGACAACGAGAAAGCAAGAGGCAAAGCGATCCATCAAGCCAACCTTCGACATCTCTGCCGCATCTGTGGGAATTCTTTTAGAGCTGATGAGCACAACAGGAGATATCCAGTCCATGGTCCTGTGGATGGTAAAACCCT... | CTGTTCCGGGTGAGATCCTTTGAAAAGACACCTGAAGAAGCTCAAAAGGAAAAGAAGGATTCCTTTGAGGGGAAACCCTCTCTGGAGCAATCTCCAGCAGTCCTGGACAAGGCTGATGGTCAGAAGCCAGTCCCAACTCAGCCATTGTTAAAAGCCCACCCTAAGTTTTCAAAGAAATTTCACGACAACGAGAAAGCAAGAGGCAAAGCGATCCATCAAGCCAACCTTCGACATCTCTGCCGCATCTGTGGGAATTCTTTTAGAGCTGATGAGCACAACAGGAGATATCCAGTCCATGGTCCTGTGGATGGTAAAACCCT... | pathogenic | 174,582 |
Variant chromosome 11, position 36575749, gene RAG1 (recombination activating 1): benign or pathogenic? Disease(s)? | pathogenic; ['Combined_immunodeficiency_due_to_partial_RAG1_deficiency', 'Combined_immunodeficiency_with_skin_granulomas', 'Severe_combined_immunodeficiency,_autosomal_recessive,_T_cell-negative,_B_cell-negative,_NK_cell-positive'] | GTGGATGGTAAAACCCTAGGCCTTTTACGAAAGAAGGAAAAGAGAGCTACTTCCTGGCCGGACCTCATTGCCAAGGTTTTCCGGATCGATGTGAAGGCAGATGTTGACTCGATCCACCCCACTGAGTTCTGCCATAACTGCTGGAGCATCATGCACAGGAAGTTTAGCAGTGCCCCATGTGAGGTTTACTTCCCGAGGAACGTGACCATGGAGTGGCACCCCCACACACCATCCTGTGACATCTGCAACACTGCCCGTCGGGGACTCAAGAGGAAGAGTCTTCAGCCAAACTTGCAGCTCAGCAAAAAACTCAAAACTGT... | GTGGATGGTAAAACCCTAGGCCTTTTACGAAAGAAGGAAAAGAGAGCTACTTCCTGGCCGGACCTCATTGCCAAGGTTTTCCGGATCGATGTGAAGGCAGATGTTGACTCGATCCACCCCACTGAGTTCTGCCATAACTGCTGGAGCATCATGCACAGGAAGTTTAGCAGTGCCCCATGTGAGGTTTACTTCCCGAGGAACGTGACCATGGAGTGGCACCCCCACACACCATCCTGTGACATCTGCAACACTGCCCGTCGGGGACTCAAGAGGAAGAGTCTTCAGCCAAACTTGCAGCTCAGCAAAAAACTCAAAACTGT... | pathogenic | 174,596 |
Clinically, how would you classify the variant at chromosome 11, position 36575791, gene RAG1 (recombination activating 1): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Combined_immunodeficiency_due_to_partial_RAG1_deficiency', 'Combined_immunodeficiency_with_skin_granulomas', 'Histiocytic_medullary_reticulosis', 'Recombinase_activating_gene_1_deficiency', 'Severe_combined_immunodeficiency,_autosomal_recessive,_T_cell-negative,_B_cell-negative,_NK_cell-positive'] | AGAGCTACTTCCTGGCCGGACCTCATTGCCAAGGTTTTCCGGATCGATGTGAAGGCAGATGTTGACTCGATCCACCCCACTGAGTTCTGCCATAACTGCTGGAGCATCATGCACAGGAAGTTTAGCAGTGCCCCATGTGAGGTTTACTTCCCGAGGAACGTGACCATGGAGTGGCACCCCCACACACCATCCTGTGACATCTGCAACACTGCCCGTCGGGGACTCAAGAGGAAGAGTCTTCAGCCAAACTTGCAGCTCAGCAAAAAACTCAAAACTGTGCTTGACCAAGCAAGACAAGCCCGTCAGCACAAGAGAAGAGC... | AGAGCTACTTCCTGGCCGGACCTCATTGCCAAGGTTTTCCGGATCGATGTGAAGGCAGATGTTGACTCGATCCACCCCACTGAGTTCTGCCATAACTGCTGGAGCATCATGCACAGGAAGTTTAGCAGTGCCCCATGTGAGGTTTACTTCCCGAGGAACGTGACCATGGAGTGGCACCCCCACACACCATCCTGTGACATCTGCAACACTGCCCGTCGGGGACTCAAGAGGAAGAGTCTTCAGCCAAACTTGCAGCTCAGCAAAAAACTCAAAACTGTGCTTGACCAAGCAAGACAAGCCCGTCAGCACAAGAGAAGAGC... | pathogenic | 174,599 |
Regarding the variant at chromosome 11 and position 36576152, affecting gene RAG1 (recombination activating 1): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Combined_immunodeficiency_due_to_partial_RAG1_deficiency', 'Combined_immunodeficiency_with_skin_granulomas', 'Histiocytic_medullary_reticulosis', 'Severe_combined_immunodeficiency,_autosomal_recessive,_T_cell-negative,_B_cell-negative,_NK_cell-positive'] | CCAACTGCAGTAAGATACATCTTAGTACCAAGCTCCTTGCAGTGGACTTCCCAGAGCACTTTGTGAAATCCATCTCCTGCCAGATCTGTGAACACATTCTGGCTGACCCTGTGGAGACCAACTGTAAGCATGTCTTTTGCCGGGTCTGCATTCTCAGATGCCTCAAAGTCATGGGCAGCTATTGTCCCTCTTGCCGATATCCATGCTTCCCTACTGACCTGGAGAGTCCAGTGAAGTCCTTTCTGAGCGTCTTGAATTCCCTGATGGTGAAATGTCCAGCAAAAGAGTGCAATGAGGAGGTCAGTTTGGAAAAATATAAT... | CCAACTGCAGTAAGATACATCTTAGTACCAAGCTCCTTGCAGTGGACTTCCCAGAGCACTTTGTGAAATCCATCTCCTGCCAGATCTGTGAACACATTCTGGCTGACCCTGTGGAGACCAACTGTAAGCATGTCTTTTGCCGGGTCTGCATTCTCAGATGCCTCAAAGTCATGGGCAGCTATTGTCCCTCTTGCCGATATCCATGCTTCCCTACTGACCTGGAGAGTCCAGTGAAGTCCTTTCTGAGCGTCTTGAATTCCCTGATGGTGAAATGTCCAGCAAAAGAGTGCAATGAGGAGGTCAGTTTGGAAAAATATAAT... | pathogenic | 174,609 |
Variant at chromosome 11, position 36592762, gene RAG2 (recombination activating 2): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Combined_immunodeficiency_with_skin_granulomas', 'Severe_combined_immunodeficiency,_autosomal_recessive,_T_cell-negative,_B_cell-negative,_NK_cell-positive'] | CACACACACCCTCCCCCAAAAGCAGCTATACTGGTGAGATCTGAGTTTGACTATGAAATTCAGTGAGTTCACAACTGAATCACTTAGATTACCATATCTGGATCTCATTGGCTACAAAATAAATATGTGGTAATAATTCTTTAGCCACCAAATCACTGCAGACAAATCAAGAAGAGAGAATATACCTACTCCTTGGGGAAATTTCACTTTTGGACTCTGTAAAGGATATTTTCGCTCCAACTTGTGCCATTTTCTACTAACAAATAGAAAAAAAAATCAAAGTGGAGTGATCCTGAAAAAATTAGTTTAATTTTGCCGTT... | CACACACACCCTCCCCCAAAAGCAGCTATACTGGTGAGATCTGAGTTTGACTATGAAATTCAGTGAGTTCACAACTGAATCACTTAGATTACCATATCTGGATCTCATTGGCTACAAAATAAATATGTGGTAATAATTCTTTAGCCACCAAATCACTGCAGACAAATCAAGAAGAGAGAATATACCTACTCCTTGGGGAAATTTCACTTTTGGACTCTGTAAAGGATATTTTCGCTCCAACTTGTGCCATTTTCTACTAACAAATAGAAAAAAAAATCAAAGTGGAGTGATCCTGAAAAAATTAGTTTAATTTTGCCGTT... | pathogenic | 174,628 |
Determine if the mutation at chromosome 11, position 36592764 in gene RAG2 (recombination activating 2) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Combined_immunodeficiency_with_skin_granulomas', 'Severe_combined_immunodeficiency,_autosomal_recessive,_T_cell-negative,_B_cell-negative,_NK_cell-positive'] | CACACACCCTCCCCCAAAAGCAGCTATACTGGTGAGATCTGAGTTTGACTATGAAATTCAGTGAGTTCACAACTGAATCACTTAGATTACCATATCTGGATCTCATTGGCTACAAAATAAATATGTGGTAATAATTCTTTAGCCACCAAATCACTGCAGACAAATCAAGAAGAGAGAATATACCTACTCCTTGGGGAAATTTCACTTTTGGACTCTGTAAAGGATATTTTCGCTCCAACTTGTGCCATTTTCTACTAACAAATAGAAAAAAAAATCAAAGTGGAGTGATCCTGAAAAAATTAGTTTAATTTTGCCGTTAT... | CACACACCCTCCCCCAAAAGCAGCTATACTGGTGAGATCTGAGTTTGACTATGAAATTCAGTGAGTTCACAACTGAATCACTTAGATTACCATATCTGGATCTCATTGGCTACAAAATAAATATGTGGTAATAATTCTTTAGCCACCAAATCACTGCAGACAAATCAAGAAGAGAGAATATACCTACTCCTTGGGGAAATTTCACTTTTGGACTCTGTAAAGGATATTTTCGCTCCAACTTGTGCCATTTTCTACTAACAAATAGAAAAAAAAATCAAAGTGGAGTGATCCTGAAAAAATTAGTTTAATTTTGCCGTTAT... | pathogenic | 174,629 |
Assess the variant on chromosome 11, position 36592888, impacting RAG2 (recombination activating 2): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Combined_immunodeficiency_with_skin_granulomas', 'Histiocytic_medullary_reticulosis', 'Severe_combined_immunodeficiency,_autosomal_recessive,_T_cell-negative,_B_cell-negative,_NK_cell-positive'] | GTGGTAATAATTCTTTAGCCACCAAATCACTGCAGACAAATCAAGAAGAGAGAATATACCTACTCCTTGGGGAAATTTCACTTTTGGACTCTGTAAAGGATATTTTCGCTCCAACTTGTGCCATTTTCTACTAACAAATAGAAAAAAAAATCAAAGTGGAGTGATCCTGAAAAAATTAGTTTAATTTTGCCGTTATTTAGGTAACATATCTTAATAATTAGAGTAAATCAATATAAATAGAAGATTTTTATATTTTATTATTTTTATATAGGTGATGGAAACAACAAAAGATCAAATCAATGTGCAACAATTGTTCAACA... | GTGGTAATAATTCTTTAGCCACCAAATCACTGCAGACAAATCAAGAAGAGAGAATATACCTACTCCTTGGGGAAATTTCACTTTTGGACTCTGTAAAGGATATTTTCGCTCCAACTTGTGCCATTTTCTACTAACAAATAGAAAAAAAAATCAAAGTGGAGTGATCCTGAAAAAATTAGTTTAATTTTGCCGTTATTTAGGTAACATATCTTAATAATTAGAGTAAATCAATATAAATAGAAGATTTTTATATTTTATTATTTTTATATAGGTGATGGAAACAACAAAAGATCAAATCAATGTGCAACAATTGTTCAACA... | pathogenic | 174,638 |
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