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 |
|---|---|---|---|---|---|
Is chromosome 12, position 51684150, gene SCN8A (sodium voltage-gated channel alpha subunit 8) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | benign | TTTCTCCTTTATTAATATGTTGCATTACATTGGTTGATTTTCAAATGCTAAACTATCTTTGCATTCCTGGGATAAATCCCACTTGGTCATGGTGTGCAACCCTTTTTATATGCTACTGGATTTGGTTTGCTGGCATTTTTGTTGAGGCTGTCTGTGTCTATATTCATAAGGGATGTTAGTATAGAGTTTTCTTATGATGTCTTTGGTTTTGTATCAAGGTAATACTGGCCTTTAGAATGAGTTTAGAAATGTTCTCTTCTATTTTGTGGGAGAGTTTGTTTAATTCTTTAAACATTTGGTAGAATTCATCAGCAAAACCG... | TTTCTCCTTTATTAATATGTTGCATTACATTGGTTGATTTTCAAATGCTAAACTATCTTTGCATTCCTGGGATAAATCCCACTTGGTCATGGTGTGCAACCCTTTTTATATGCTACTGGATTTGGTTTGCTGGCATTTTTGTTGAGGCTGTCTGTGTCTATATTCATAAGGGATGTTAGTATAGAGTTTTCTTATGATGTCTTTGGTTTTGTATCAAGGTAATACTGGCCTTTAGAATGAGTTTAGAAATGTTCTCTTCTATTTTGTGGGAGAGTTTGTTTAATTCTTTAAACATTTGGTAGAATTCATCAGCAAAACCG... | benign | 196,970 |
Variant at chromosome position 51706586, chromosome 12, gene SCN8A (sodium voltage-gated channel alpha subunit 8): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Early_infantile_epileptic_encephalopathy_with_suppression_bursts'] | CACATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGTGGGAGAATTGCTTTAACCTGGGAGGTGGAGGTTGCAGTGAGCTGAGATGATGGCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCCACCTACAAAAAAAAAAAAAAAAAAATGGGTCCGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGCTCAAGACCAGCCTGGCCAACATAGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTAGCTGGGCATGGTGGTGGGCACCTGTAATC... | CACATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGTGGGAGAATTGCTTTAACCTGGGAGGTGGAGGTTGCAGTGAGCTGAGATGATGGCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCCACCTACAAAAAAAAAAAAAAAAAAATGGGTCCGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGCTCAAGACCAGCCTGGCCAACATAGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTAGCTGGGCATGGTGGTGGGCACCTGTAATC... | pathogenic | 197,032 |
Does the genetic variant at chromosome 12, position 51721527, impacting gene SCN8A (sodium voltage-gated channel alpha subunit 8), appear benign or pathogenic? If pathogenic, name the associated disease(s). | benign | AAAAGATAAGGGCAGAAATGTTAAAGAGGAGCCCCATGGCCCTTCCAGTGTTAACATCAAAAGTGTTAACAGGCTGGGCGTGGTGCCTCCCTCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAACCCAGGAGTTCGAGATCAGCCTGGGCAACATAGAGAAGTAAATTCAGGGGTGAGCAGTAAAATACATTAAAACATAAAAGTGTACATTCAAATAAAATTCCCTAGGGAATATGGAAAGGAAGCATGAAATTGAAGGAGAAGAATAAATAAGAAAAAATTTATGCTAAAGAATTCTTGGCC... | AAAAGATAAGGGCAGAAATGTTAAAGAGGAGCCCCATGGCCCTTCCAGTGTTAACATCAAAAGTGTTAACAGGCTGGGCGTGGTGCCTCCCTCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAACCCAGGAGTTCGAGATCAGCCTGGGCAACATAGAGAAGTAAATTCAGGGGTGAGCAGTAAAATACATTAAAACATAAAAGTGTACATTCAAATAAAATTCCCTAGGGAATATGGAAAGGAAGCATGAAATTGAAGGAGAAGAATAAATAAGAAAAAATTTATGCTAAAGAATTCTTGGCC... | benign | 197,038 |
Variant at chromosome position 51721871, chromosome 12, gene SCN8A (sodium voltage-gated channel alpha subunit 8): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Early_infantile_epileptic_encephalopathy_with_suppression_bursts', 'Inborn_genetic_diseases', 'SCN8A-related_disorder'] | TCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCTGGCAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAGAATTCTTTAAGTAAATTTCTTTACCACAAACTTTACGGTAAACAAG... | TCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCTGGCAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAGAATTCTTTAAGTAAATTTCTTTACCACAAACTTTACGGTAAACAAG... | pathogenic | 197,053 |
Is the chromosome 12, position 51745885 variant in SCN8A (sodium voltage-gated channel alpha subunit 8) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | benign | AGATTTCTTAGCACTTTGGGAGTCCAAGGTGGGTGGATCACCTGAGGCCAGGAGTTTGATACCAGCCTGGCCAACATGGTGAAACCCATCAAGAGGACAGGGACCATGTTGTATGTGTTGTTCGCCACTGTATCCACACCACTTAGCAAACAATAAGTATTTGTTTAAATAAAATTAAATTTTAGCTGGGCATGGTGGCTCACATCTGTAATCCCAGCGTTTTGGAAGGCTGAGGTGGGAGGATCACTTGAGGCCAGGAGTTCCAGACCAGCCTGGATAACATGGCGAAACCTTGTCTTTACTAAAAAATACAAAAATTA... | AGATTTCTTAGCACTTTGGGAGTCCAAGGTGGGTGGATCACCTGAGGCCAGGAGTTTGATACCAGCCTGGCCAACATGGTGAAACCCATCAAGAGGACAGGGACCATGTTGTATGTGTTGTTCGCCACTGTATCCACACCACTTAGCAAACAATAAGTATTTGTTTAAATAAAATTAAATTTTAGCTGGGCATGGTGGCTCACATCTGTAATCCCAGCGTTTTGGAAGGCTGAGGTGGGAGGATCACTTGAGGCCAGGAGTTCCAGACCAGCCTGGATAACATGGCGAAACCTTGTCTTTACTAAAAAATACAAAAATTA... | benign | 197,056 |
Mutation at chromosome 12, position 51751340, within SCN8A (sodium voltage-gated channel alpha subunit 8): benign or pathogenic? If pathogenic, indicate the disease(s). | benign | CCCTGTAGGGCAGGAAAACCCCTTTTTGCTGTGTGGCAAGACTCAAGACCTAGTTCATTTTAAAACATTACAATTGTGTCAACTGTCATAAATGTGAGCAGTCGCAGCTTCAACCTCCACGTGCCAATGAGCAACAGTCGTTTGGAGAAGGGAGGAGATAAAAAAGGGAACGGAACTAAATTTCCAAATATGTACTGTAAGAATTTATGGAAATAAGAGAACCTTGTCATTTTCTTTTTTGGGGGAGAAAACTATATTTACCTTAGGAAGGGAGGGAGTTCTCTGAGGAAGAAGCCACAGCAGATTTTCCTCACAGACTT... | CCCTGTAGGGCAGGAAAACCCCTTTTTGCTGTGTGGCAAGACTCAAGACCTAGTTCATTTTAAAACATTACAATTGTGTCAACTGTCATAAATGTGAGCAGTCGCAGCTTCAACCTCCACGTGCCAATGAGCAACAGTCGTTTGGAGAAGGGAGGAGATAAAAAAGGGAACGGAACTAAATTTCCAAATATGTACTGTAAGAATTTATGGAAATAAGAGAACCTTGTCATTTTCTTTTTTGGGGGAGAAAACTATATTTACCTTAGGAAGGGAGGGAGTTCTCTGAGGAAGAAGCCACAGCAGATTTTCCTCACAGACTT... | benign | 197,061 |
Mutation at chromosome 12, position 51751606, within SCN8A (sodium voltage-gated channel alpha subunit 8): benign or pathogenic? If pathogenic, indicate the disease(s). | benign | GAAGGGAGGGAGTTCTCTGAGGAAGAAGCCACAGCAGATTTTCCTCACAGACTTCCTTTCCCACGCAGCCTCCCACGTGGCGCTTACAGGGGTCCTTAAATCTGAAAAACCAAGGCAACCATTTTCTTAGCAACCAGGGAACCAATCAGAAACTCAGCCAAAACCACCTTGTCTAAAATAAAGCATCGCCATCCAGCTGGTTGGAAAAGGGAACGTAGGCTAATTTAAGGCAGCCATCTTGGTTTTGGTGAAATGTTAGGGAATTTTTTTTTTCCTTAAATGATTTGATAGTGTCAGCAGAATTGAACAGAGAGAGAGTA... | GAAGGGAGGGAGTTCTCTGAGGAAGAAGCCACAGCAGATTTTCCTCACAGACTTCCTTTCCCACGCAGCCTCCCACGTGGCGCTTACAGGGGTCCTTAAATCTGAAAAACCAAGGCAACCATTTTCTTAGCAACCAGGGAACCAATCAGAAACTCAGCCAAAACCACCTTGTCTAAAATAAAGCATCGCCATCCAGCTGGTTGGAAAAGGGAACGTAGGCTAATTTAAGGCAGCCATCTTGGTTTTGGTGAAATGTTAGGGAATTTTTTTTTTCCTTAAATGATTTGATAGTGTCAGCAGAATTGAACAGAGAGAGAGTA... | benign | 197,069 |
Variant on chromosome 12, at position 51765654, affecting SCN8A (sodium voltage-gated channel alpha subunit 8): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | benign | TTTGAAGAAGTTAGTGTTTAAGTTACTCTTAATGACTTAAAATGACTCTGAAAGAATAGTTAATGGTATCTTCAAAACAGCTGTCCGTAAACATAAGCGTAAGTGATATCTTGATTAACTCCTCGAGAAACTGAGTTATCCTGGGGGTATCCCACTCAGACAAAGGTCACTACTGCTTCCCTGGCATTAGAATTGGCTTGGGTTTTTCACTCCCTATTGGGAAGATAAGCACTTGGCAACTGAAAAGGTTTAAAGTTTCTTCATTGAGATATTCAGCAGTTCTAAGAAAGAACTGGAAAAAGTGAAACTATTTGTAAAAC... | TTTGAAGAAGTTAGTGTTTAAGTTACTCTTAATGACTTAAAATGACTCTGAAAGAATAGTTAATGGTATCTTCAAAACAGCTGTCCGTAAACATAAGCGTAAGTGATATCTTGATTAACTCCTCGAGAAACTGAGTTATCCTGGGGGTATCCCACTCAGACAAAGGTCACTACTGCTTCCCTGGCATTAGAATTGGCTTGGGTTTTTCACTCCCTATTGGGAAGATAAGCACTTGGCAACTGAAAAGGTTTAAAGTTTCTTCATTGAGATATTCAGCAGTTCTAAGAAAGAACTGGAAAAAGTGAAACTATTTGTAAAAC... | benign | 197,077 |
Evaluate if the mutation on chromosome 12 at position 51765654 in SCN8A (sodium voltage-gated channel alpha subunit 8) is benign or pathogenic. Disease name(s) if pathogenic? | benign | TTTGAAGAAGTTAGTGTTTAAGTTACTCTTAATGACTTAAAATGACTCTGAAAGAATAGTTAATGGTATCTTCAAAACAGCTGTCCGTAAACATAAGCGTAAGTGATATCTTGATTAACTCCTCGAGAAACTGAGTTATCCTGGGGGTATCCCACTCAGACAAAGGTCACTACTGCTTCCCTGGCATTAGAATTGGCTTGGGTTTTTCACTCCCTATTGGGAAGATAAGCACTTGGCAACTGAAAAGGTTTAAAGTTTCTTCATTGAGATATTCAGCAGTTCTAAGAAAGAACTGGAAAAAGTGAAACTATTTGTAAAAC... | TTTGAAGAAGTTAGTGTTTAAGTTACTCTTAATGACTTAAAATGACTCTGAAAGAATAGTTAATGGTATCTTCAAAACAGCTGTCCGTAAACATAAGCGTAAGTGATATCTTGATTAACTCCTCGAGAAACTGAGTTATCCTGGGGGTATCCCACTCAGACAAAGGTCACTACTGCTTCCCTGGCATTAGAATTGGCTTGGGTTTTTCACTCCCTATTGGGAAGATAAGCACTTGGCAACTGAAAAGGTTTAAAGTTTCTTCATTGAGATATTCAGCAGTTCTAAGAAAGAACTGGAAAAAGTGAAACTATTTGTAAAAC... | benign | 197,078 |
Does the variant on chromosome 12 at location 51765829 affecting gene SCN8A (sodium voltage-gated channel alpha subunit 8) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Developmental_and_epileptic_encephalopathy,_13'] | CTTCCCTGGCATTAGAATTGGCTTGGGTTTTTCACTCCCTATTGGGAAGATAAGCACTTGGCAACTGAAAAGGTTTAAAGTTTCTTCATTGAGATATTCAGCAGTTCTAAGAAAGAACTGGAAAAAGTGAAACTATTTGTAAAACAGAGATTTCACTCAGTCAAAGTCACAAATAACTGCCAAATTTTTGAAACCTCTGTTTACTACTCTTTGGTTAGGATCCAGTCCACAGTGGACTTTTTTGAGAATAGTTATTACCTAGGTGACAAAAGAAAGGATTGAGAGTAGCCTTAGAACTTATATTCTTAATAAATTAAAAA... | CTTCCCTGGCATTAGAATTGGCTTGGGTTTTTCACTCCCTATTGGGAAGATAAGCACTTGGCAACTGAAAAGGTTTAAAGTTTCTTCATTGAGATATTCAGCAGTTCTAAGAAAGAACTGGAAAAAGTGAAACTATTTGTAAAACAGAGATTTCACTCAGTCAAAGTCACAAATAACTGCCAAATTTTTGAAACCTCTGTTTACTACTCTTTGGTTAGGATCCAGTCCACAGTGGACTTTTTTGAGAATAGTTATTACCTAGGTGACAAAAGAAAGGATTGAGAGTAGCCTTAGAACTTATATTCTTAATAAATTAAAAA... | pathogenic | 197,086 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 12, position 51807428, gene SCN8A (sodium voltage-gated channel alpha subunit 8). What disease(s) is it linked to if pathogenic? | benign | TCAAGACCAGCCCGGGCAACATAGCAAGACCCCCATCTCTACAAAATATTTAAAATAAATAAATAAGACAGAAACAGTATAATTTCCTAACCATAGTAGGAAATTATATATATATATATGATTCTTACATAGTAAATCTATAAAGGCACACACTAGAATGATACATACCATCTTCAGCATTGTGGATGCTTCATCTGGGAATGATGAAAGAGGAAGAAAAATTGGTAAAATGCTAGCCTCTATTAAATCTGTGTTCCATTCCAGTTACTCAGGAGGTCTGAGGCAGGAGGATCACTTGAGCCCAGGAGTTCAAGACCAGC... | TCAAGACCAGCCCGGGCAACATAGCAAGACCCCCATCTCTACAAAATATTTAAAATAAATAAATAAGACAGAAACAGTATAATTTCCTAACCATAGTAGGAAATTATATATATATATATGATTCTTACATAGTAAATCTATAAAGGCACACACTAGAATGATACATACCATCTTCAGCATTGTGGATGCTTCATCTGGGAATGATGAAAGAGGAAGAAAAATTGGTAAAATGCTAGCCTCTATTAAATCTGTGTTCCATTCCAGTTACTCAGGAGGTCTGAGGCAGGAGGATCACTTGAGCCCAGGAGTTCAAGACCAGC... | benign | 197,219 |
Mutation at chromosome 12, position 51913102, within ACVRL1 (activin A receptor like type 1): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Telangiectasia,_hereditary_hemorrhagic,_type_2'] | CTGTCAGGCTCACCATGTCATGCCAAAGGACAGTCTCCCTGCCTTGTGCCCTGCCTGAGGATCCAGTCCCCAGACACACACCTGCACATGCTCCACCATTCAGAAAGTCCTGTTGCTGTCTGACCAGGGTCCTTCTTGCTGCAGCTTTAGCCAATATCTTCTGGTTCTAAACCTGTGAGAAATGAAGACTGGGTGGCTTCAGAAGCACTAGTTGGTGTGGGACCTGGATTGGGGACTATCATAGACCAGAATTACTCCCCCTAACACTCTCCAACAAACTTCTGGAAAAGTTCAACCCTAGTCAGCCATGGAAGGTCAAA... | CTGTCAGGCTCACCATGTCATGCCAAAGGACAGTCTCCCTGCCTTGTGCCCTGCCTGAGGATCCAGTCCCCAGACACACACCTGCACATGCTCCACCATTCAGAAAGTCCTGTTGCTGTCTGACCAGGGTCCTTCTTGCTGCAGCTTTAGCCAATATCTTCTGGTTCTAAACCTGTGAGAAATGAAGACTGGGTGGCTTCAGAAGCACTAGTTGGTGTGGGACCTGGATTGGGGACTATCATAGACCAGAATTACTCCCCCTAACACTCTCCAACAAACTTCTGGAAAAGTTCAACCCTAGTCAGCCATGGAAGGTCAAA... | pathogenic | 197,229 |
Gene mutation in ACVRL1 (activin A receptor like type 1) at chromosome 12, position 51913106—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Telangiectasia,_hereditary_hemorrhagic,_type_2'] | CAGGCTCACCATGTCATGCCAAAGGACAGTCTCCCTGCCTTGTGCCCTGCCTGAGGATCCAGTCCCCAGACACACACCTGCACATGCTCCACCATTCAGAAAGTCCTGTTGCTGTCTGACCAGGGTCCTTCTTGCTGCAGCTTTAGCCAATATCTTCTGGTTCTAAACCTGTGAGAAATGAAGACTGGGTGGCTTCAGAAGCACTAGTTGGTGTGGGACCTGGATTGGGGACTATCATAGACCAGAATTACTCCCCCTAACACTCTCCAACAAACTTCTGGAAAAGTTCAACCCTAGTCAGCCATGGAAGGTCAAACATT... | CAGGCTCACCATGTCATGCCAAAGGACAGTCTCCCTGCCTTGTGCCCTGCCTGAGGATCCAGTCCCCAGACACACACCTGCACATGCTCCACCATTCAGAAAGTCCTGTTGCTGTCTGACCAGGGTCCTTCTTGCTGCAGCTTTAGCCAATATCTTCTGGTTCTAAACCTGTGAGAAATGAAGACTGGGTGGCTTCAGAAGCACTAGTTGGTGTGGGACCTGGATTGGGGACTATCATAGACCAGAATTACTCCCCCTAACACTCTCCAACAAACTTCTGGAAAAGTTCAACCCTAGTCAGCCATGGAAGGTCAAACATT... | pathogenic | 197,231 |
The genetic variant at chromosome 12, position 51913119, affecting gene ACVRL1 (activin A receptor like type 1): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Telangiectasia,_hereditary_hemorrhagic,_type_2'] | TCATGCCAAAGGACAGTCTCCCTGCCTTGTGCCCTGCCTGAGGATCCAGTCCCCAGACACACACCTGCACATGCTCCACCATTCAGAAAGTCCTGTTGCTGTCTGACCAGGGTCCTTCTTGCTGCAGCTTTAGCCAATATCTTCTGGTTCTAAACCTGTGAGAAATGAAGACTGGGTGGCTTCAGAAGCACTAGTTGGTGTGGGACCTGGATTGGGGACTATCATAGACCAGAATTACTCCCCCTAACACTCTCCAACAAACTTCTGGAAAAGTTCAACCCTAGTCAGCCATGGAAGGTCAAACATTCAGTGTCTAAGTG... | TCATGCCAAAGGACAGTCTCCCTGCCTTGTGCCCTGCCTGAGGATCCAGTCCCCAGACACACACCTGCACATGCTCCACCATTCAGAAAGTCCTGTTGCTGTCTGACCAGGGTCCTTCTTGCTGCAGCTTTAGCCAATATCTTCTGGTTCTAAACCTGTGAGAAATGAAGACTGGGTGGCTTCAGAAGCACTAGTTGGTGTGGGACCTGGATTGGGGACTATCATAGACCAGAATTACTCCCCCTAACACTCTCCAACAAACTTCTGGAAAAGTTCAACCCTAGTCAGCCATGGAAGGTCAAACATTCAGTGTCTAAGTG... | pathogenic | 197,233 |
Evaluate if the mutation on chromosome 12 at position 51913150 in ACVRL1 (activin A receptor like type 1) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Cardiovascular_phenotype', 'Telangiectasia,_hereditary_hemorrhagic,_type_2'] | CCCTGCCTGAGGATCCAGTCCCCAGACACACACCTGCACATGCTCCACCATTCAGAAAGTCCTGTTGCTGTCTGACCAGGGTCCTTCTTGCTGCAGCTTTAGCCAATATCTTCTGGTTCTAAACCTGTGAGAAATGAAGACTGGGTGGCTTCAGAAGCACTAGTTGGTGTGGGACCTGGATTGGGGACTATCATAGACCAGAATTACTCCCCCTAACACTCTCCAACAAACTTCTGGAAAAGTTCAACCCTAGTCAGCCATGGAAGGTCAAACATTCAGTGTCTAAGTGTGTTTCACTTCCCCTGCCACATCACTGGCCC... | CCCTGCCTGAGGATCCAGTCCCCAGACACACACCTGCACATGCTCCACCATTCAGAAAGTCCTGTTGCTGTCTGACCAGGGTCCTTCTTGCTGCAGCTTTAGCCAATATCTTCTGGTTCTAAACCTGTGAGAAATGAAGACTGGGTGGCTTCAGAAGCACTAGTTGGTGTGGGACCTGGATTGGGGACTATCATAGACCAGAATTACTCCCCCTAACACTCTCCAACAAACTTCTGGAAAAGTTCAACCCTAGTCAGCCATGGAAGGTCAAACATTCAGTGTCTAAGTGTGTTTCACTTCCCCTGCCACATCACTGGCCC... | pathogenic | 197,240 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 12, position 51913162, gene ACVRL1 (activin A receptor like type 1). What disease(s) is it linked to if pathogenic? | pathogenic; ['Cardiovascular_phenotype', 'Telangiectasia,_hereditary_hemorrhagic,_type_2'] | ATCCAGTCCCCAGACACACACCTGCACATGCTCCACCATTCAGAAAGTCCTGTTGCTGTCTGACCAGGGTCCTTCTTGCTGCAGCTTTAGCCAATATCTTCTGGTTCTAAACCTGTGAGAAATGAAGACTGGGTGGCTTCAGAAGCACTAGTTGGTGTGGGACCTGGATTGGGGACTATCATAGACCAGAATTACTCCCCCTAACACTCTCCAACAAACTTCTGGAAAAGTTCAACCCTAGTCAGCCATGGAAGGTCAAACATTCAGTGTCTAAGTGTGTTTCACTTCCCCTGCCACATCACTGGCCCTCCACCCACCCT... | ATCCAGTCCCCAGACACACACCTGCACATGCTCCACCATTCAGAAAGTCCTGTTGCTGTCTGACCAGGGTCCTTCTTGCTGCAGCTTTAGCCAATATCTTCTGGTTCTAAACCTGTGAGAAATGAAGACTGGGTGGCTTCAGAAGCACTAGTTGGTGTGGGACCTGGATTGGGGACTATCATAGACCAGAATTACTCCCCCTAACACTCTCCAACAAACTTCTGGAAAAGTTCAACCCTAGTCAGCCATGGAAGGTCAAACATTCAGTGTCTAAGTGTGTTTCACTTCCCCTGCCACATCACTGGCCCTCCACCCACCCT... | pathogenic | 197,242 |
For chromosome 12, position 51913162, gene ACVRL1 (activin A receptor like type 1): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Cardiovascular_phenotype', 'Telangiectasia,_hereditary_hemorrhagic,_type_2'] | ATCCAGTCCCCAGACACACACCTGCACATGCTCCACCATTCAGAAAGTCCTGTTGCTGTCTGACCAGGGTCCTTCTTGCTGCAGCTTTAGCCAATATCTTCTGGTTCTAAACCTGTGAGAAATGAAGACTGGGTGGCTTCAGAAGCACTAGTTGGTGTGGGACCTGGATTGGGGACTATCATAGACCAGAATTACTCCCCCTAACACTCTCCAACAAACTTCTGGAAAAGTTCAACCCTAGTCAGCCATGGAAGGTCAAACATTCAGTGTCTAAGTGTGTTTCACTTCCCCTGCCACATCACTGGCCCTCCACCCACCCT... | ATCCAGTCCCCAGACACACACCTGCACATGCTCCACCATTCAGAAAGTCCTGTTGCTGTCTGACCAGGGTCCTTCTTGCTGCAGCTTTAGCCAATATCTTCTGGTTCTAAACCTGTGAGAAATGAAGACTGGGTGGCTTCAGAAGCACTAGTTGGTGTGGGACCTGGATTGGGGACTATCATAGACCAGAATTACTCCCCCTAACACTCTCCAACAAACTTCTGGAAAAGTTCAACCCTAGTCAGCCATGGAAGGTCAAACATTCAGTGTCTAAGTGTGTTTCACTTCCCCTGCCACATCACTGGCCCTCCACCCACCCT... | pathogenic | 197,243 |
Is the genetic mutation found on chromosome 12 at position 51913174, within the gene ACVRL1 (activin A receptor like type 1), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Cardiovascular_phenotype', 'Telangiectasia,_hereditary_hemorrhagic,_type_2'] | GACACACACCTGCACATGCTCCACCATTCAGAAAGTCCTGTTGCTGTCTGACCAGGGTCCTTCTTGCTGCAGCTTTAGCCAATATCTTCTGGTTCTAAACCTGTGAGAAATGAAGACTGGGTGGCTTCAGAAGCACTAGTTGGTGTGGGACCTGGATTGGGGACTATCATAGACCAGAATTACTCCCCCTAACACTCTCCAACAAACTTCTGGAAAAGTTCAACCCTAGTCAGCCATGGAAGGTCAAACATTCAGTGTCTAAGTGTGTTTCACTTCCCCTGCCACATCACTGGCCCTCCACCCACCCTTTCCTAGATGGC... | GACACACACCTGCACATGCTCCACCATTCAGAAAGTCCTGTTGCTGTCTGACCAGGGTCCTTCTTGCTGCAGCTTTAGCCAATATCTTCTGGTTCTAAACCTGTGAGAAATGAAGACTGGGTGGCTTCAGAAGCACTAGTTGGTGTGGGACCTGGATTGGGGACTATCATAGACCAGAATTACTCCCCCTAACACTCTCCAACAAACTTCTGGAAAAGTTCAACCCTAGTCAGCCATGGAAGGTCAAACATTCAGTGTCTAAGTGTGTTTCACTTCCCCTGCCACATCACTGGCCCTCCACCCACCCTTTCCTAGATGGC... | pathogenic | 197,245 |
Variant at chromosome position 51913176, chromosome 12, gene ACVRL1 (activin A receptor like type 1): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Cardiovascular_phenotype', 'Telangiectasia,_hereditary_hemorrhagic,_type_2'] | CACACACCTGCACATGCTCCACCATTCAGAAAGTCCTGTTGCTGTCTGACCAGGGTCCTTCTTGCTGCAGCTTTAGCCAATATCTTCTGGTTCTAAACCTGTGAGAAATGAAGACTGGGTGGCTTCAGAAGCACTAGTTGGTGTGGGACCTGGATTGGGGACTATCATAGACCAGAATTACTCCCCCTAACACTCTCCAACAAACTTCTGGAAAAGTTCAACCCTAGTCAGCCATGGAAGGTCAAACATTCAGTGTCTAAGTGTGTTTCACTTCCCCTGCCACATCACTGGCCCTCCACCCACCCTTTCCTAGATGGCAA... | CACACACCTGCACATGCTCCACCATTCAGAAAGTCCTGTTGCTGTCTGACCAGGGTCCTTCTTGCTGCAGCTTTAGCCAATATCTTCTGGTTCTAAACCTGTGAGAAATGAAGACTGGGTGGCTTCAGAAGCACTAGTTGGTGTGGGACCTGGATTGGGGACTATCATAGACCAGAATTACTCCCCCTAACACTCTCCAACAAACTTCTGGAAAAGTTCAACCCTAGTCAGCCATGGAAGGTCAAACATTCAGTGTCTAAGTGTGTTTCACTTCCCCTGCCACATCACTGGCCCTCCACCCACCCTTTCCTAGATGGCAA... | pathogenic | 197,246 |
Located at chromosome 12 position 51913176, the variant affecting gene ACVRL1 (activin A receptor like type 1)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['ACVRL1-related_disorder', 'Cardiovascular_phenotype', 'Telangiectasia,_hereditary_hemorrhagic,_type_2'] | CACACACCTGCACATGCTCCACCATTCAGAAAGTCCTGTTGCTGTCTGACCAGGGTCCTTCTTGCTGCAGCTTTAGCCAATATCTTCTGGTTCTAAACCTGTGAGAAATGAAGACTGGGTGGCTTCAGAAGCACTAGTTGGTGTGGGACCTGGATTGGGGACTATCATAGACCAGAATTACTCCCCCTAACACTCTCCAACAAACTTCTGGAAAAGTTCAACCCTAGTCAGCCATGGAAGGTCAAACATTCAGTGTCTAAGTGTGTTTCACTTCCCCTGCCACATCACTGGCCCTCCACCCACCCTTTCCTAGATGGCAA... | CACACACCTGCACATGCTCCACCATTCAGAAAGTCCTGTTGCTGTCTGACCAGGGTCCTTCTTGCTGCAGCTTTAGCCAATATCTTCTGGTTCTAAACCTGTGAGAAATGAAGACTGGGTGGCTTCAGAAGCACTAGTTGGTGTGGGACCTGGATTGGGGACTATCATAGACCAGAATTACTCCCCCTAACACTCTCCAACAAACTTCTGGAAAAGTTCAACCCTAGTCAGCCATGGAAGGTCAAACATTCAGTGTCTAAGTGTGTTTCACTTCCCCTGCCACATCACTGGCCCTCCACCCACCCTTTCCTAGATGGCAA... | pathogenic | 197,247 |
Variant on chromosome 12, at position 51913176, affecting ACVRL1 (activin A receptor like type 1): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Cardiovascular_phenotype', 'Telangiectasia,_hereditary_hemorrhagic,_type_2'] | CACACACCTGCACATGCTCCACCATTCAGAAAGTCCTGTTGCTGTCTGACCAGGGTCCTTCTTGCTGCAGCTTTAGCCAATATCTTCTGGTTCTAAACCTGTGAGAAATGAAGACTGGGTGGCTTCAGAAGCACTAGTTGGTGTGGGACCTGGATTGGGGACTATCATAGACCAGAATTACTCCCCCTAACACTCTCCAACAAACTTCTGGAAAAGTTCAACCCTAGTCAGCCATGGAAGGTCAAACATTCAGTGTCTAAGTGTGTTTCACTTCCCCTGCCACATCACTGGCCCTCCACCCACCCTTTCCTAGATGGCAA... | CACACACCTGCACATGCTCCACCATTCAGAAAGTCCTGTTGCTGTCTGACCAGGGTCCTTCTTGCTGCAGCTTTAGCCAATATCTTCTGGTTCTAAACCTGTGAGAAATGAAGACTGGGTGGCTTCAGAAGCACTAGTTGGTGTGGGACCTGGATTGGGGACTATCATAGACCAGAATTACTCCCCCTAACACTCTCCAACAAACTTCTGGAAAAGTTCAACCCTAGTCAGCCATGGAAGGTCAAACATTCAGTGTCTAAGTGTGTTTCACTTCCCCTGCCACATCACTGGCCCTCCACCCACCCTTTCCTAGATGGCAA... | pathogenic | 197,248 |
Is the genetic mutation found on chromosome 12 at position 51913213, within the gene ACVRL1 (activin A receptor like type 1), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Cardiovascular_phenotype', 'Telangiectasia,_hereditary_hemorrhagic,_type_2'] | GTTGCTGTCTGACCAGGGTCCTTCTTGCTGCAGCTTTAGCCAATATCTTCTGGTTCTAAACCTGTGAGAAATGAAGACTGGGTGGCTTCAGAAGCACTAGTTGGTGTGGGACCTGGATTGGGGACTATCATAGACCAGAATTACTCCCCCTAACACTCTCCAACAAACTTCTGGAAAAGTTCAACCCTAGTCAGCCATGGAAGGTCAAACATTCAGTGTCTAAGTGTGTTTCACTTCCCCTGCCACATCACTGGCCCTCCACCCACCCTTTCCTAGATGGCAAGGGGAAAGAAGGGGGCCAGGGAACAGCTCCGAGAGGG... | GTTGCTGTCTGACCAGGGTCCTTCTTGCTGCAGCTTTAGCCAATATCTTCTGGTTCTAAACCTGTGAGAAATGAAGACTGGGTGGCTTCAGAAGCACTAGTTGGTGTGGGACCTGGATTGGGGACTATCATAGACCAGAATTACTCCCCCTAACACTCTCCAACAAACTTCTGGAAAAGTTCAACCCTAGTCAGCCATGGAAGGTCAAACATTCAGTGTCTAAGTGTGTTTCACTTCCCCTGCCACATCACTGGCCCTCCACCCACCCTTTCCTAGATGGCAAGGGGAAAGAAGGGGGCCAGGGAACAGCTCCGAGAGGG... | pathogenic | 197,255 |
Chromosome 12, position 51913218, gene ACVRL1 (activin A receptor like type 1): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Cardiovascular_phenotype', 'Telangiectasia,_hereditary_hemorrhagic,_type_2'] | TGTCTGACCAGGGTCCTTCTTGCTGCAGCTTTAGCCAATATCTTCTGGTTCTAAACCTGTGAGAAATGAAGACTGGGTGGCTTCAGAAGCACTAGTTGGTGTGGGACCTGGATTGGGGACTATCATAGACCAGAATTACTCCCCCTAACACTCTCCAACAAACTTCTGGAAAAGTTCAACCCTAGTCAGCCATGGAAGGTCAAACATTCAGTGTCTAAGTGTGTTTCACTTCCCCTGCCACATCACTGGCCCTCCACCCACCCTTTCCTAGATGGCAAGGGGAAAGAAGGGGGCCAGGGAACAGCTCCGAGAGGGCAGCT... | TGTCTGACCAGGGTCCTTCTTGCTGCAGCTTTAGCCAATATCTTCTGGTTCTAAACCTGTGAGAAATGAAGACTGGGTGGCTTCAGAAGCACTAGTTGGTGTGGGACCTGGATTGGGGACTATCATAGACCAGAATTACTCCCCCTAACACTCTCCAACAAACTTCTGGAAAAGTTCAACCCTAGTCAGCCATGGAAGGTCAAACATTCAGTGTCTAAGTGTGTTTCACTTCCCCTGCCACATCACTGGCCCTCCACCCACCCTTTCCTAGATGGCAAGGGGAAAGAAGGGGGCCAGGGAACAGCTCCGAGAGGGCAGCT... | pathogenic | 197,256 |
Gene mutation in ACVRL1 (activin A receptor like type 1) at chromosome 12, position 51913228—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Cardiovascular_phenotype', 'Telangiectasia,_hereditary_hemorrhagic,_type_2'] | GGGTCCTTCTTGCTGCAGCTTTAGCCAATATCTTCTGGTTCTAAACCTGTGAGAAATGAAGACTGGGTGGCTTCAGAAGCACTAGTTGGTGTGGGACCTGGATTGGGGACTATCATAGACCAGAATTACTCCCCCTAACACTCTCCAACAAACTTCTGGAAAAGTTCAACCCTAGTCAGCCATGGAAGGTCAAACATTCAGTGTCTAAGTGTGTTTCACTTCCCCTGCCACATCACTGGCCCTCCACCCACCCTTTCCTAGATGGCAAGGGGAAAGAAGGGGGCCAGGGAACAGCTCCGAGAGGGCAGCTTATACTCTGG... | GGGTCCTTCTTGCTGCAGCTTTAGCCAATATCTTCTGGTTCTAAACCTGTGAGAAATGAAGACTGGGTGGCTTCAGAAGCACTAGTTGGTGTGGGACCTGGATTGGGGACTATCATAGACCAGAATTACTCCCCCTAACACTCTCCAACAAACTTCTGGAAAAGTTCAACCCTAGTCAGCCATGGAAGGTCAAACATTCAGTGTCTAAGTGTGTTTCACTTCCCCTGCCACATCACTGGCCCTCCACCCACCCTTTCCTAGATGGCAAGGGGAAAGAAGGGGGCCAGGGAACAGCTCCGAGAGGGCAGCTTATACTCTGG... | pathogenic | 197,257 |
Variant at chromosome position 51913276, chromosome 12, gene ACVRL1 (activin A receptor like type 1): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Cardiovascular_phenotype'] | GTGAGAAATGAAGACTGGGTGGCTTCAGAAGCACTAGTTGGTGTGGGACCTGGATTGGGGACTATCATAGACCAGAATTACTCCCCCTAACACTCTCCAACAAACTTCTGGAAAAGTTCAACCCTAGTCAGCCATGGAAGGTCAAACATTCAGTGTCTAAGTGTGTTTCACTTCCCCTGCCACATCACTGGCCCTCCACCCACCCTTTCCTAGATGGCAAGGGGAAAGAAGGGGGCCAGGGAACAGCTCCGAGAGGGCAGCTTATACTCTGGTGAGCTTGCAGAGAGGTTTCTCTACACCTGGCATGACCCTGCCCCGTC... | GTGAGAAATGAAGACTGGGTGGCTTCAGAAGCACTAGTTGGTGTGGGACCTGGATTGGGGACTATCATAGACCAGAATTACTCCCCCTAACACTCTCCAACAAACTTCTGGAAAAGTTCAACCCTAGTCAGCCATGGAAGGTCAAACATTCAGTGTCTAAGTGTGTTTCACTTCCCCTGCCACATCACTGGCCCTCCACCCACCCTTTCCTAGATGGCAAGGGGAAAGAAGGGGGCCAGGGAACAGCTCCGAGAGGGCAGCTTATACTCTGGTGAGCTTGCAGAGAGGTTTCTCTACACCTGGCATGACCCTGCCCCGTC... | pathogenic | 197,264 |
Chromosome 12, position 51913294, gene ACVRL1 (activin A receptor like type 1): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Telangiectasia,_hereditary_hemorrhagic,_type_2'] | GTGGCTTCAGAAGCACTAGTTGGTGTGGGACCTGGATTGGGGACTATCATAGACCAGAATTACTCCCCCTAACACTCTCCAACAAACTTCTGGAAAAGTTCAACCCTAGTCAGCCATGGAAGGTCAAACATTCAGTGTCTAAGTGTGTTTCACTTCCCCTGCCACATCACTGGCCCTCCACCCACCCTTTCCTAGATGGCAAGGGGAAAGAAGGGGGCCAGGGAACAGCTCCGAGAGGGCAGCTTATACTCTGGTGAGCTTGCAGAGAGGTTTCTCTACACCTGGCATGACCCTGCCCCGTCCGAGCTTTGCATGGTTGT... | GTGGCTTCAGAAGCACTAGTTGGTGTGGGACCTGGATTGGGGACTATCATAGACCAGAATTACTCCCCCTAACACTCTCCAACAAACTTCTGGAAAAGTTCAACCCTAGTCAGCCATGGAAGGTCAAACATTCAGTGTCTAAGTGTGTTTCACTTCCCCTGCCACATCACTGGCCCTCCACCCACCCTTTCCTAGATGGCAAGGGGAAAGAAGGGGGCCAGGGAACAGCTCCGAGAGGGCAGCTTATACTCTGGTGAGCTTGCAGAGAGGTTTCTCTACACCTGGCATGACCCTGCCCCGTCCGAGCTTTGCATGGTTGT... | pathogenic | 197,265 |
Considering the genetic mutation at chromosome 12, position 51913592, impacting ACVRL1 (activin A receptor like type 1): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Cardiovascular_phenotype', 'Telangiectasia,_hereditary_hemorrhagic,_type_2'] | CGTCCGAGCTTTGCATGGTTGTTATAGCCCTGAGGGCTCAGACATGGGCTGCCACCACTGGATAGGGACAGAGCGAAGAGAGCACTTGATTAGGAGTCTGGAAACCTGGGATGTACGCCTGCTGGTGCCAGTGAGTCCTGTCTGACCCGGGACAAGTCTTCTTCCCTGTATGAGCCTTACTCCTCTCTTCTGTAAAACAAGGAGCTGGATTTTGTGATTCACAGGATGTCCACCTAGAATTCTGTCATGTGGGTGTCCCAGGCACAAGGAACTAAGGGTAGCAAGGAACTAAGGGCATATTTAAAAAGCCCCTCCAGACC... | CGTCCGAGCTTTGCATGGTTGTTATAGCCCTGAGGGCTCAGACATGGGCTGCCACCACTGGATAGGGACAGAGCGAAGAGAGCACTTGATTAGGAGTCTGGAAACCTGGGATGTACGCCTGCTGGTGCCAGTGAGTCCTGTCTGACCCGGGACAAGTCTTCTTCCCTGTATGAGCCTTACTCCTCTCTTCTGTAAAACAAGGAGCTGGATTTTGTGATTCACAGGATGTCCACCTAGAATTCTGTCATGTGGGTGTCCCAGGCACAAGGAACTAAGGGTAGCAAGGAACTAAGGGCATATTTAAAAAGCCCCTCCAGACC... | pathogenic | 197,282 |
A mutation at chromosome position 51913616 on chromosome 12 in gene ACVRL1 (activin A receptor like type 1): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Cardiovascular_phenotype', 'Telangiectasia,_hereditary_hemorrhagic,_type_2'] | TAGCCCTGAGGGCTCAGACATGGGCTGCCACCACTGGATAGGGACAGAGCGAAGAGAGCACTTGATTAGGAGTCTGGAAACCTGGGATGTACGCCTGCTGGTGCCAGTGAGTCCTGTCTGACCCGGGACAAGTCTTCTTCCCTGTATGAGCCTTACTCCTCTCTTCTGTAAAACAAGGAGCTGGATTTTGTGATTCACAGGATGTCCACCTAGAATTCTGTCATGTGGGTGTCCCAGGCACAAGGAACTAAGGGTAGCAAGGAACTAAGGGCATATTTAAAAAGCCCCTCCAGACCTTGTGGCTGCTGCAGCCCACCCTG... | TAGCCCTGAGGGCTCAGACATGGGCTGCCACCACTGGATAGGGACAGAGCGAAGAGAGCACTTGATTAGGAGTCTGGAAACCTGGGATGTACGCCTGCTGGTGCCAGTGAGTCCTGTCTGACCCGGGACAAGTCTTCTTCCCTGTATGAGCCTTACTCCTCTCTTCTGTAAAACAAGGAGCTGGATTTTGTGATTCACAGGATGTCCACCTAGAATTCTGTCATGTGGGTGTCCCAGGCACAAGGAACTAAGGGTAGCAAGGAACTAAGGGCATATTTAAAAAGCCCCTCCAGACCTTGTGGCTGCTGCAGCCCACCCTG... | pathogenic | 197,283 |
Does the variant impacting ACVRL1 (activin A receptor like type 1) on chromosome 12, position 51913648, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['ACVRL1-related_disorder', 'Cardiovascular_phenotype', 'Telangiectasia,_hereditary_hemorrhagic,_type_2'] | ACTGGATAGGGACAGAGCGAAGAGAGCACTTGATTAGGAGTCTGGAAACCTGGGATGTACGCCTGCTGGTGCCAGTGAGTCCTGTCTGACCCGGGACAAGTCTTCTTCCCTGTATGAGCCTTACTCCTCTCTTCTGTAAAACAAGGAGCTGGATTTTGTGATTCACAGGATGTCCACCTAGAATTCTGTCATGTGGGTGTCCCAGGCACAAGGAACTAAGGGTAGCAAGGAACTAAGGGCATATTTAAAAAGCCCCTCCAGACCTTGTGGCTGCTGCAGCCCACCCTGAAAATATGCCCTCAGTTCCCTGCTGTGCGTGA... | ACTGGATAGGGACAGAGCGAAGAGAGCACTTGATTAGGAGTCTGGAAACCTGGGATGTACGCCTGCTGGTGCCAGTGAGTCCTGTCTGACCCGGGACAAGTCTTCTTCCCTGTATGAGCCTTACTCCTCTCTTCTGTAAAACAAGGAGCTGGATTTTGTGATTCACAGGATGTCCACCTAGAATTCTGTCATGTGGGTGTCCCAGGCACAAGGAACTAAGGGTAGCAAGGAACTAAGGGCATATTTAAAAAGCCCCTCCAGACCTTGTGGCTGCTGCAGCCCACCCTGAAAATATGCCCTCAGTTCCCTGCTGTGCGTGA... | pathogenic | 197,286 |
Variant at chromosome 12, position 51913656, gene ACVRL1 (activin A receptor like type 1): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Cardiovascular_phenotype', 'Telangiectasia,_hereditary_hemorrhagic,_type_2'] | GGGACAGAGCGAAGAGAGCACTTGATTAGGAGTCTGGAAACCTGGGATGTACGCCTGCTGGTGCCAGTGAGTCCTGTCTGACCCGGGACAAGTCTTCTTCCCTGTATGAGCCTTACTCCTCTCTTCTGTAAAACAAGGAGCTGGATTTTGTGATTCACAGGATGTCCACCTAGAATTCTGTCATGTGGGTGTCCCAGGCACAAGGAACTAAGGGTAGCAAGGAACTAAGGGCATATTTAAAAAGCCCCTCCAGACCTTGTGGCTGCTGCAGCCCACCCTGAAAATATGCCCTCAGTTCCCTGCTGTGCGTGACTCCTGCC... | GGGACAGAGCGAAGAGAGCACTTGATTAGGAGTCTGGAAACCTGGGATGTACGCCTGCTGGTGCCAGTGAGTCCTGTCTGACCCGGGACAAGTCTTCTTCCCTGTATGAGCCTTACTCCTCTCTTCTGTAAAACAAGGAGCTGGATTTTGTGATTCACAGGATGTCCACCTAGAATTCTGTCATGTGGGTGTCCCAGGCACAAGGAACTAAGGGTAGCAAGGAACTAAGGGCATATTTAAAAAGCCCCTCCAGACCTTGTGGCTGCTGCAGCCCACCCTGAAAATATGCCCTCAGTTCCCTGCTGTGCGTGACTCCTGCC... | pathogenic | 197,287 |
Is the genetic change at chromosome 12, position 51913766, within gene ACVRL1 (activin A receptor like type 1) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Cardiovascular_phenotype', 'Telangiectasia,_hereditary_hemorrhagic,_type_2'] | CCTTACTCCTCTCTTCTGTAAAACAAGGAGCTGGATTTTGTGATTCACAGGATGTCCACCTAGAATTCTGTCATGTGGGTGTCCCAGGCACAAGGAACTAAGGGTAGCAAGGAACTAAGGGCATATTTAAAAAGCCCCTCCAGACCTTGTGGCTGCTGCAGCCCACCCTGAAAATATGCCCTCAGTTCCCTGCTGTGCGTGACTCCTGCCTGTTCTATCCAGACCCCAATCTAAACAATCTTGATTCCTGTTCCTGGCTTGGCAGGACCCTGAATGGCAGGAAGCGAAGACAGGAGCCTGTTTATGTTTGAGGCAGCCAG... | CCTTACTCCTCTCTTCTGTAAAACAAGGAGCTGGATTTTGTGATTCACAGGATGTCCACCTAGAATTCTGTCATGTGGGTGTCCCAGGCACAAGGAACTAAGGGTAGCAAGGAACTAAGGGCATATTTAAAAAGCCCCTCCAGACCTTGTGGCTGCTGCAGCCCACCCTGAAAATATGCCCTCAGTTCCCTGCTGTGCGTGACTCCTGCCTGTTCTATCCAGACCCCAATCTAAACAATCTTGATTCCTGTTCCTGGCTTGGCAGGACCCTGAATGGCAGGAAGCGAAGACAGGAGCCTGTTTATGTTTGAGGCAGCCAG... | pathogenic | 197,292 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 12, position 51913988, gene ACVRL1 (activin A receptor like type 1). What disease(s) is it linked to if pathogenic? | pathogenic; ['ACVRL1-related_disorder', 'Cardiovascular_phenotype', 'Telangiectasia,_hereditary_hemorrhagic,_type_2'] | ACCCCAATCTAAACAATCTTGATTCCTGTTCCTGGCTTGGCAGGACCCTGAATGGCAGGAAGCGAAGACAGGAGCCTGTTTATGTTTGAGGCAGCCAGGGCTGGGGGGGCATTGAGAAAGGGTAGGCAGGGGTGGAAGCTGTGAGGGAGTGGGAAAGAGACACAGAACAGAAGGGGAGCTGCTGGAGAGATGCTCCTTCTACCCCAATTGGGTGCTCCCTGCGGCTCTCCCAACCTGCCTGCAGTCTGAGCTCAGCAGCAGGAGTGCAGAGCTAGGGTTTCCCCAAGCTCTCAGTCACTTAAACATTGCTCTCCACCCTT... | ACCCCAATCTAAACAATCTTGATTCCTGTTCCTGGCTTGGCAGGACCCTGAATGGCAGGAAGCGAAGACAGGAGCCTGTTTATGTTTGAGGCAGCCAGGGCTGGGGGGGCATTGAGAAAGGGTAGGCAGGGGTGGAAGCTGTGAGGGAGTGGGAAAGAGACACAGAACAGAAGGGGAGCTGCTGGAGAGATGCTCCTTCTACCCCAATTGGGTGCTCCCTGCGGCTCTCCCAACCTGCCTGCAGTCTGAGCTCAGCAGCAGGAGTGCAGAGCTAGGGTTTCCCCAAGCTCTCAGTCACTTAAACATTGCTCTCCACCCTT... | pathogenic | 197,298 |
Clinically, how would you classify the variant at chromosome 12, position 51914067, gene ACVRL1 (activin A receptor like type 1): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Telangiectasia,_hereditary_hemorrhagic,_type_2'] | TTATGTTTGAGGCAGCCAGGGCTGGGGGGGCATTGAGAAAGGGTAGGCAGGGGTGGAAGCTGTGAGGGAGTGGGAAAGAGACACAGAACAGAAGGGGAGCTGCTGGAGAGATGCTCCTTCTACCCCAATTGGGTGCTCCCTGCGGCTCTCCCAACCTGCCTGCAGTCTGAGCTCAGCAGCAGGAGTGCAGAGCTAGGGTTTCCCCAAGCTCTCAGTCACTTAAACATTGCTCTCCACCCTTCACCTCTAACAGGATGGTTTCCATGGGGAAGTGAACCAGGACTTCCCCTGCAGGCCCCGCCCCAAAGCCAGGCGGCAGG... | TTATGTTTGAGGCAGCCAGGGCTGGGGGGGCATTGAGAAAGGGTAGGCAGGGGTGGAAGCTGTGAGGGAGTGGGAAAGAGACACAGAACAGAAGGGGAGCTGCTGGAGAGATGCTCCTTCTACCCCAATTGGGTGCTCCCTGCGGCTCTCCCAACCTGCCTGCAGTCTGAGCTCAGCAGCAGGAGTGCAGAGCTAGGGTTTCCCCAAGCTCTCAGTCACTTAAACATTGCTCTCCACCCTTCACCTCTAACAGGATGGTTTCCATGGGGAAGTGAACCAGGACTTCCCCTGCAGGCCCCGCCCCAAAGCCAGGCGGCAGG... | pathogenic | 197,303 |
Clinically, how would you classify the variant at chromosome 12, position 51914179, gene ACVRL1 (activin A receptor like type 1): benign or pathogenic? If pathogenic, specify the associated illness(es). | benign | GCTCCTTCTACCCCAATTGGGTGCTCCCTGCGGCTCTCCCAACCTGCCTGCAGTCTGAGCTCAGCAGCAGGAGTGCAGAGCTAGGGTTTCCCCAAGCTCTCAGTCACTTAAACATTGCTCTCCACCCTTCACCTCTAACAGGATGGTTTCCATGGGGAAGTGAACCAGGACTTCCCCTGCAGGCCCCGCCCCAAAGCCAGGCGGCAGGGAGTAGGGAGGCGGCCTCCCTGCCTCCCCTCCAAAAAAAACTCTGTGATTTCCTCTGGGCAGGAGGGAGCCACGGCCAGCGGCTGTCACACTTCATGGCTCTTACTCCACCT... | GCTCCTTCTACCCCAATTGGGTGCTCCCTGCGGCTCTCCCAACCTGCCTGCAGTCTGAGCTCAGCAGCAGGAGTGCAGAGCTAGGGTTTCCCCAAGCTCTCAGTCACTTAAACATTGCTCTCCACCCTTCACCTCTAACAGGATGGTTTCCATGGGGAAGTGAACCAGGACTTCCCCTGCAGGCCCCGCCCCAAAGCCAGGCGGCAGGGAGTAGGGAGGCGGCCTCCCTGCCTCCCCTCCAAAAAAAACTCTGTGATTTCCTCTGGGCAGGAGGGAGCCACGGCCAGCGGCTGTCACACTTCATGGCTCTTACTCCACCT... | benign | 197,306 |
Variant on chromosome 12, at position 51914452, affecting ACVRL1 (activin A receptor like type 1): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Telangiectasia,_hereditary_hemorrhagic,_type_2'] | GGAGCCACGGCCAGCGGCTGTCACACTTCATGGCTCTTACTCCACCTCTCTTGCTCCTCTCTGCAGGGACCATGACCTTGGGCTCCCCCAGGAAAGGCCTTCTGATGCTGCTGATGGCCTTGGTGACCCAGGGTGAGTACTGGGGGAGCAGTTAGGAAACAGGAACCTGGATACAGAAAGGGCTATCTGGGCCCAGATCAGCTCTGCCTGGGGCTGAACTTGAGAAGCTGGGGAGAATGTAGGAGCTTGACTGGAGAGTGGAGGACAGTGAGGCTCCATTAGACTCAGTCCCCAGCTACCCCAGCCCTCCTTTGCTCTCC... | GGAGCCACGGCCAGCGGCTGTCACACTTCATGGCTCTTACTCCACCTCTCTTGCTCCTCTCTGCAGGGACCATGACCTTGGGCTCCCCCAGGAAAGGCCTTCTGATGCTGCTGATGGCCTTGGTGACCCAGGGTGAGTACTGGGGGAGCAGTTAGGAAACAGGAACCTGGATACAGAAAGGGCTATCTGGGCCCAGATCAGCTCTGCCTGGGGCTGAACTTGAGAAGCTGGGGAGAATGTAGGAGCTTGACTGGAGAGTGGAGGACAGTGAGGCTCCATTAGACTCAGTCCCCAGCTACCCCAGCCCTCCTTTGCTCTCC... | pathogenic | 197,314 |
Located at chromosome 12 position 51914505, the variant affecting gene ACVRL1 (activin A receptor like type 1)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Cardiovascular_phenotype', 'Telangiectasia,_hereditary_hemorrhagic,_type_2', 'likely other unspecified diseases'] | CTCCTCTCTGCAGGGACCATGACCTTGGGCTCCCCCAGGAAAGGCCTTCTGATGCTGCTGATGGCCTTGGTGACCCAGGGTGAGTACTGGGGGAGCAGTTAGGAAACAGGAACCTGGATACAGAAAGGGCTATCTGGGCCCAGATCAGCTCTGCCTGGGGCTGAACTTGAGAAGCTGGGGAGAATGTAGGAGCTTGACTGGAGAGTGGAGGACAGTGAGGCTCCATTAGACTCAGTCCCCAGCTACCCCAGCCCTCCTTTGCTCTCCTCTTGATCCAGACCTGCAGGCTGGAGCTCTGTCAGACTAGGGTGGAAGCCTAT... | CTCCTCTCTGCAGGGACCATGACCTTGGGCTCCCCCAGGAAAGGCCTTCTGATGCTGCTGATGGCCTTGGTGACCCAGGGTGAGTACTGGGGGAGCAGTTAGGAAACAGGAACCTGGATACAGAAAGGGCTATCTGGGCCCAGATCAGCTCTGCCTGGGGCTGAACTTGAGAAGCTGGGGAGAATGTAGGAGCTTGACTGGAGAGTGGAGGACAGTGAGGCTCCATTAGACTCAGTCCCCAGCTACCCCAGCCCTCCTTTGCTCTCCTCTTGATCCAGACCTGCAGGCTGGAGCTCTGTCAGACTAGGGTGGAAGCCTAT... | pathogenic | 197,325 |
For chromosome 12, position 51914513, gene ACVRL1 (activin A receptor like type 1): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Cardiovascular_phenotype', 'Telangiectasia,_hereditary_hemorrhagic,_type_2'] | TGCAGGGACCATGACCTTGGGCTCCCCCAGGAAAGGCCTTCTGATGCTGCTGATGGCCTTGGTGACCCAGGGTGAGTACTGGGGGAGCAGTTAGGAAACAGGAACCTGGATACAGAAAGGGCTATCTGGGCCCAGATCAGCTCTGCCTGGGGCTGAACTTGAGAAGCTGGGGAGAATGTAGGAGCTTGACTGGAGAGTGGAGGACAGTGAGGCTCCATTAGACTCAGTCCCCAGCTACCCCAGCCCTCCTTTGCTCTCCTCTTGATCCAGACCTGCAGGCTGGAGCTCTGTCAGACTAGGGTGGAAGCCTATATGTGGGG... | TGCAGGGACCATGACCTTGGGCTCCCCCAGGAAAGGCCTTCTGATGCTGCTGATGGCCTTGGTGACCCAGGGTGAGTACTGGGGGAGCAGTTAGGAAACAGGAACCTGGATACAGAAAGGGCTATCTGGGCCCAGATCAGCTCTGCCTGGGGCTGAACTTGAGAAGCTGGGGAGAATGTAGGAGCTTGACTGGAGAGTGGAGGACAGTGAGGCTCCATTAGACTCAGTCCCCAGCTACCCCAGCCCTCCTTTGCTCTCCTCTTGATCCAGACCTGCAGGCTGGAGCTCTGTCAGACTAGGGTGGAAGCCTATATGTGGGG... | pathogenic | 197,327 |
Considering the genetic mutation at chromosome 12, position 51914552, impacting ACVRL1 (activin A receptor like type 1): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Telangiectasia', 'Telangiectasia,_hereditary_hemorrhagic,_type_2', 'likely other unspecified diseases'] | TCTGATGCTGCTGATGGCCTTGGTGACCCAGGGTGAGTACTGGGGGAGCAGTTAGGAAACAGGAACCTGGATACAGAAAGGGCTATCTGGGCCCAGATCAGCTCTGCCTGGGGCTGAACTTGAGAAGCTGGGGAGAATGTAGGAGCTTGACTGGAGAGTGGAGGACAGTGAGGCTCCATTAGACTCAGTCCCCAGCTACCCCAGCCCTCCTTTGCTCTCCTCTTGATCCAGACCTGCAGGCTGGAGCTCTGTCAGACTAGGGTGGAAGCCTATATGTGGGGTGGAGGGAGAGCAGGTGTTGGCAGGCCAAGCCTGGGAGA... | TCTGATGCTGCTGATGGCCTTGGTGACCCAGGGTGAGTACTGGGGGAGCAGTTAGGAAACAGGAACCTGGATACAGAAAGGGCTATCTGGGCCCAGATCAGCTCTGCCTGGGGCTGAACTTGAGAAGCTGGGGAGAATGTAGGAGCTTGACTGGAGAGTGGAGGACAGTGAGGCTCCATTAGACTCAGTCCCCAGCTACCCCAGCCCTCCTTTGCTCTCCTCTTGATCCAGACCTGCAGGCTGGAGCTCTGTCAGACTAGGGTGGAAGCCTATATGTGGGGTGGAGGGAGAGCAGGTGTTGGCAGGCCAAGCCTGGGAGA... | pathogenic | 197,332 |
Variant on chromosome 12, at position 51914570, affecting ACVRL1 (activin A receptor like type 1): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Cardiovascular_phenotype', 'Pulmonary_arterial_hypertension_related_to_hereditary_hemorrhagic_telangiectasia', 'Telangiectasia,_hereditary_hemorrhagic,_type_2'] | CTTGGTGACCCAGGGTGAGTACTGGGGGAGCAGTTAGGAAACAGGAACCTGGATACAGAAAGGGCTATCTGGGCCCAGATCAGCTCTGCCTGGGGCTGAACTTGAGAAGCTGGGGAGAATGTAGGAGCTTGACTGGAGAGTGGAGGACAGTGAGGCTCCATTAGACTCAGTCCCCAGCTACCCCAGCCCTCCTTTGCTCTCCTCTTGATCCAGACCTGCAGGCTGGAGCTCTGTCAGACTAGGGTGGAAGCCTATATGTGGGGTGGAGGGAGAGCAGGTGTTGGCAGGCCAAGCCTGGGAGAGCACTCAGGGCTGGGGCT... | CTTGGTGACCCAGGGTGAGTACTGGGGGAGCAGTTAGGAAACAGGAACCTGGATACAGAAAGGGCTATCTGGGCCCAGATCAGCTCTGCCTGGGGCTGAACTTGAGAAGCTGGGGAGAATGTAGGAGCTTGACTGGAGAGTGGAGGACAGTGAGGCTCCATTAGACTCAGTCCCCAGCTACCCCAGCCCTCCTTTGCTCTCCTCTTGATCCAGACCTGCAGGCTGGAGCTCTGTCAGACTAGGGTGGAAGCCTATATGTGGGGTGGAGGGAGAGCAGGTGTTGGCAGGCCAAGCCTGGGAGAGCACTCAGGGCTGGGGCT... | pathogenic | 197,334 |
The mutation in gene ACVRL1 (activin A receptor like type 1) at chromosome 12, position 51915257—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Cardiovascular_phenotype', 'Telangiectasia,_hereditary_hemorrhagic,_type_2'] | GAGGAGGGGAGGCACCCCCAGGAACATCGGGGCTGCGGGAACTTGCACAGGGAGCTCTGCAGGGGGCGCCCCACCGAGTTCGTCAACCACTACTGCTGCGACAGCCACCTCTGCAACCACAACGTGTCCCTGGTGCTGGAGGGTACGTCCAGCTGCCCTAGCACTCCCTCCCCATCTTCTTGGCCCCTGCCCTCCCTTCCCTCCTTTCCTCTCATGCTCTGGCCAATAAAGGGGCTGGGGGCGGGGGAGCGGGTGGGCAGGACTCTGGGATCTAACTGGCAGAGTGGTCTGGCCCGAGGTGGGGGGAGCTGACCTAGTGG... | GAGGAGGGGAGGCACCCCCAGGAACATCGGGGCTGCGGGAACTTGCACAGGGAGCTCTGCAGGGGGCGCCCCACCGAGTTCGTCAACCACTACTGCTGCGACAGCCACCTCTGCAACCACAACGTGTCCCTGGTGCTGGAGGGTACGTCCAGCTGCCCTAGCACTCCCTCCCCATCTTCTTGGCCCCTGCCCTCCCTTCCCTCCTTTCCTCTCATGCTCTGGCCAATAAAGGGGCTGGGGGCGGGGGAGCGGGTGGGCAGGACTCTGGGATCTAACTGGCAGAGTGGTCTGGCCCGAGGTGGGGGGAGCTGACCTAGTGG... | pathogenic | 197,342 |
Considering the genetic mutation at chromosome 12, position 51915299, impacting ACVRL1 (activin A receptor like type 1): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Telangiectasia,_hereditary_hemorrhagic,_type_2'] | TTGCACAGGGAGCTCTGCAGGGGGCGCCCCACCGAGTTCGTCAACCACTACTGCTGCGACAGCCACCTCTGCAACCACAACGTGTCCCTGGTGCTGGAGGGTACGTCCAGCTGCCCTAGCACTCCCTCCCCATCTTCTTGGCCCCTGCCCTCCCTTCCCTCCTTTCCTCTCATGCTCTGGCCAATAAAGGGGCTGGGGGCGGGGGAGCGGGTGGGCAGGACTCTGGGATCTAACTGGCAGAGTGGTCTGGCCCGAGGTGGGGGGAGCTGACCTAGTGGAAGCTGAGCCTCAGTGTCCCCCTCCCTCAGCCACCCAACCTC... | TTGCACAGGGAGCTCTGCAGGGGGCGCCCCACCGAGTTCGTCAACCACTACTGCTGCGACAGCCACCTCTGCAACCACAACGTGTCCCTGGTGCTGGAGGGTACGTCCAGCTGCCCTAGCACTCCCTCCCCATCTTCTTGGCCCCTGCCCTCCCTTCCCTCCTTTCCTCTCATGCTCTGGCCAATAAAGGGGCTGGGGGCGGGGGAGCGGGTGGGCAGGACTCTGGGATCTAACTGGCAGAGTGGTCTGGCCCGAGGTGGGGGGAGCTGACCTAGTGGAAGCTGAGCCTCAGTGTCCCCCTCCCTCAGCCACCCAACCTC... | pathogenic | 197,351 |
Variant in ACVRL1 (activin A receptor like type 1), chromosome 12, position 51915320—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_hemorrhagic_telangiectasia', 'Telangiectasia,_hereditary_hemorrhagic,_type_2'] | GGGCGCCCCACCGAGTTCGTCAACCACTACTGCTGCGACAGCCACCTCTGCAACCACAACGTGTCCCTGGTGCTGGAGGGTACGTCCAGCTGCCCTAGCACTCCCTCCCCATCTTCTTGGCCCCTGCCCTCCCTTCCCTCCTTTCCTCTCATGCTCTGGCCAATAAAGGGGCTGGGGGCGGGGGAGCGGGTGGGCAGGACTCTGGGATCTAACTGGCAGAGTGGTCTGGCCCGAGGTGGGGGGAGCTGACCTAGTGGAAGCTGAGCCTCAGTGTCCCCCTCCCTCAGCCACCCAACCTCCTTCGGAGCAGCCGGGAACAG... | GGGCGCCCCACCGAGTTCGTCAACCACTACTGCTGCGACAGCCACCTCTGCAACCACAACGTGTCCCTGGTGCTGGAGGGTACGTCCAGCTGCCCTAGCACTCCCTCCCCATCTTCTTGGCCCCTGCCCTCCCTTCCCTCCTTTCCTCTCATGCTCTGGCCAATAAAGGGGCTGGGGGCGGGGGAGCGGGTGGGCAGGACTCTGGGATCTAACTGGCAGAGTGGTCTGGCCCGAGGTGGGGGGAGCTGACCTAGTGGAAGCTGAGCCTCAGTGTCCCCCTCCCTCAGCCACCCAACCTCCTTCGGAGCAGCCGGGAACAG... | pathogenic | 197,354 |
Variant chromosome 12, position 51915337, gene ACVRL1 (activin A receptor like type 1): benign or pathogenic? Disease(s)? | pathogenic; ['Cardiovascular_phenotype', 'Telangiectasia,_hereditary_hemorrhagic,_type_2'] | CGTCAACCACTACTGCTGCGACAGCCACCTCTGCAACCACAACGTGTCCCTGGTGCTGGAGGGTACGTCCAGCTGCCCTAGCACTCCCTCCCCATCTTCTTGGCCCCTGCCCTCCCTTCCCTCCTTTCCTCTCATGCTCTGGCCAATAAAGGGGCTGGGGGCGGGGGAGCGGGTGGGCAGGACTCTGGGATCTAACTGGCAGAGTGGTCTGGCCCGAGGTGGGGGGAGCTGACCTAGTGGAAGCTGAGCCTCAGTGTCCCCCTCCCTCAGCCACCCAACCTCCTTCGGAGCAGCCGGGAACAGATGGCCAGCTGGCCCTG... | CGTCAACCACTACTGCTGCGACAGCCACCTCTGCAACCACAACGTGTCCCTGGTGCTGGAGGGTACGTCCAGCTGCCCTAGCACTCCCTCCCCATCTTCTTGGCCCCTGCCCTCCCTTCCCTCCTTTCCTCTCATGCTCTGGCCAATAAAGGGGCTGGGGGCGGGGGAGCGGGTGGGCAGGACTCTGGGATCTAACTGGCAGAGTGGTCTGGCCCGAGGTGGGGGGAGCTGACCTAGTGGAAGCTGAGCCTCAGTGTCCCCCTCCCTCAGCCACCCAACCTCCTTCGGAGCAGCCGGGAACAGATGGCCAGCTGGCCCTG... | pathogenic | 197,357 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 12, position 51915461, gene ACVRL1 (activin A receptor like type 1). What disease(s) is it linked to if pathogenic? | pathogenic; ['Cardiovascular_phenotype', 'Telangiectasia,_hereditary_hemorrhagic,_type_2'] | TTTCCTCTCATGCTCTGGCCAATAAAGGGGCTGGGGGCGGGGGAGCGGGTGGGCAGGACTCTGGGATCTAACTGGCAGAGTGGTCTGGCCCGAGGTGGGGGGAGCTGACCTAGTGGAAGCTGAGCCTCAGTGTCCCCCTCCCTCAGCCACCCAACCTCCTTCGGAGCAGCCGGGAACAGATGGCCAGCTGGCCCTGATCCTGGGCCCCGTGCTGGCCTTGCTGGCCCTGGTGGCCCTGGGTGTCCTGGGCCTGTGGCATGTCCGACGGAGGCAGGAGAAGCAGCGTGGCCTGCACAGCGAGCTGGGAGAGTCCAGTCTCA... | TTTCCTCTCATGCTCTGGCCAATAAAGGGGCTGGGGGCGGGGGAGCGGGTGGGCAGGACTCTGGGATCTAACTGGCAGAGTGGTCTGGCCCGAGGTGGGGGGAGCTGACCTAGTGGAAGCTGAGCCTCAGTGTCCCCCTCCCTCAGCCACCCAACCTCCTTCGGAGCAGCCGGGAACAGATGGCCAGCTGGCCCTGATCCTGGGCCCCGTGCTGGCCTTGCTGGCCCTGGTGGCCCTGGGTGTCCTGGGCCTGTGGCATGTCCGACGGAGGCAGGAGAAGCAGCGTGGCCTGCACAGCGAGCTGGGAGAGTCCAGTCTCA... | pathogenic | 197,379 |
Does the variant on chromosome 12 at location 51915473 affecting gene ACVRL1 (activin A receptor like type 1) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Cardiovascular_phenotype', 'Telangiectasia,_hereditary_hemorrhagic,_type_2'] | CTCTGGCCAATAAAGGGGCTGGGGGCGGGGGAGCGGGTGGGCAGGACTCTGGGATCTAACTGGCAGAGTGGTCTGGCCCGAGGTGGGGGGAGCTGACCTAGTGGAAGCTGAGCCTCAGTGTCCCCCTCCCTCAGCCACCCAACCTCCTTCGGAGCAGCCGGGAACAGATGGCCAGCTGGCCCTGATCCTGGGCCCCGTGCTGGCCTTGCTGGCCCTGGTGGCCCTGGGTGTCCTGGGCCTGTGGCATGTCCGACGGAGGCAGGAGAAGCAGCGTGGCCTGCACAGCGAGCTGGGAGAGTCCAGTCTCATCCTGAAAGCAT... | CTCTGGCCAATAAAGGGGCTGGGGGCGGGGGAGCGGGTGGGCAGGACTCTGGGATCTAACTGGCAGAGTGGTCTGGCCCGAGGTGGGGGGAGCTGACCTAGTGGAAGCTGAGCCTCAGTGTCCCCCTCCCTCAGCCACCCAACCTCCTTCGGAGCAGCCGGGAACAGATGGCCAGCTGGCCCTGATCCTGGGCCCCGTGCTGGCCTTGCTGGCCCTGGTGGCCCTGGGTGTCCTGGGCCTGTGGCATGTCCGACGGAGGCAGGAGAAGCAGCGTGGCCTGCACAGCGAGCTGGGAGAGTCCAGTCTCATCCTGAAAGCAT... | pathogenic | 197,380 |
A genetic alteration at chromosome 12, position 51915485, in gene ACVRL1 (activin A receptor like type 1)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Cardiovascular_phenotype', 'Telangiectasia,_hereditary_hemorrhagic,_type_2'] | AAGGGGCTGGGGGCGGGGGAGCGGGTGGGCAGGACTCTGGGATCTAACTGGCAGAGTGGTCTGGCCCGAGGTGGGGGGAGCTGACCTAGTGGAAGCTGAGCCTCAGTGTCCCCCTCCCTCAGCCACCCAACCTCCTTCGGAGCAGCCGGGAACAGATGGCCAGCTGGCCCTGATCCTGGGCCCCGTGCTGGCCTTGCTGGCCCTGGTGGCCCTGGGTGTCCTGGGCCTGTGGCATGTCCGACGGAGGCAGGAGAAGCAGCGTGGCCTGCACAGCGAGCTGGGAGAGTCCAGTCTCATCCTGAAAGCATCTGAGCAGGGCG... | AAGGGGCTGGGGGCGGGGGAGCGGGTGGGCAGGACTCTGGGATCTAACTGGCAGAGTGGTCTGGCCCGAGGTGGGGGGAGCTGACCTAGTGGAAGCTGAGCCTCAGTGTCCCCCTCCCTCAGCCACCCAACCTCCTTCGGAGCAGCCGGGAACAGATGGCCAGCTGGCCCTGATCCTGGGCCCCGTGCTGGCCTTGCTGGCCCTGGTGGCCCTGGGTGTCCTGGGCCTGTGGCATGTCCGACGGAGGCAGGAGAAGCAGCGTGGCCTGCACAGCGAGCTGGGAGAGTCCAGTCTCATCCTGAAAGCATCTGAGCAGGGCG... | pathogenic | 197,386 |
Is the chromosome 12, position 51915488 variant in ACVRL1 (activin A receptor like type 1) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Telangiectasia,_hereditary_hemorrhagic,_type_2'] | GGGCTGGGGGCGGGGGAGCGGGTGGGCAGGACTCTGGGATCTAACTGGCAGAGTGGTCTGGCCCGAGGTGGGGGGAGCTGACCTAGTGGAAGCTGAGCCTCAGTGTCCCCCTCCCTCAGCCACCCAACCTCCTTCGGAGCAGCCGGGAACAGATGGCCAGCTGGCCCTGATCCTGGGCCCCGTGCTGGCCTTGCTGGCCCTGGTGGCCCTGGGTGTCCTGGGCCTGTGGCATGTCCGACGGAGGCAGGAGAAGCAGCGTGGCCTGCACAGCGAGCTGGGAGAGTCCAGTCTCATCCTGAAAGCATCTGAGCAGGGCGACA... | GGGCTGGGGGCGGGGGAGCGGGTGGGCAGGACTCTGGGATCTAACTGGCAGAGTGGTCTGGCCCGAGGTGGGGGGAGCTGACCTAGTGGAAGCTGAGCCTCAGTGTCCCCCTCCCTCAGCCACCCAACCTCCTTCGGAGCAGCCGGGAACAGATGGCCAGCTGGCCCTGATCCTGGGCCCCGTGCTGGCCTTGCTGGCCCTGGTGGCCCTGGGTGTCCTGGGCCTGTGGCATGTCCGACGGAGGCAGGAGAAGCAGCGTGGCCTGCACAGCGAGCTGGGAGAGTCCAGTCTCATCCTGAAAGCATCTGAGCAGGGCGACA... | pathogenic | 197,387 |
Is the genetic change at chromosome 12, position 51916107, within gene ACVRL1 (activin A receptor like type 1) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Cardiovascular_phenotype'] | TGGTGGAGTGTGTGGGTGAGCAGTGGGTGAGCCCGGTGGATGAGGACCAAGGGCTCTCATGAGCCTGGAGGGGTGAGGGAGTTTTTGGCTACTGGAATCACAGGCGGTGCCAGGCCTGGGTCAGAATTGGAATTCTGCTGGGCAGGGAGTGGGCTGGAGACGGGCCAGGGCTAGGTTCTTCTTTCTGCAGGACCGGGGTGGAACGAGAGGCAGCTGGGGGTGGCCTGCCACTGGGTTTGGGTCTGGATTAAGTTAAACCTAAGGGTCTGGGGTTCTGTGGGTGGGGTGGGCGAGGGAGGCAGCGCAGCATCAAGATGGGG... | TGGTGGAGTGTGTGGGTGAGCAGTGGGTGAGCCCGGTGGATGAGGACCAAGGGCTCTCATGAGCCTGGAGGGGTGAGGGAGTTTTTGGCTACTGGAATCACAGGCGGTGCCAGGCCTGGGTCAGAATTGGAATTCTGCTGGGCAGGGAGTGGGCTGGAGACGGGCCAGGGCTAGGTTCTTCTTTCTGCAGGACCGGGGTGGAACGAGAGGCAGCTGGGGGTGGCCTGCCACTGGGTTTGGGTCTGGATTAAGTTAAACCTAAGGGTCTGGGGTTCTGTGGGTGGGGTGGGCGAGGGAGGCAGCGCAGCATCAAGATGGGG... | pathogenic | 197,403 |
Determine if the mutation at chromosome 12, position 51916138 in gene ACVRL1 (activin A receptor like type 1) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Cardiovascular_phenotype', 'Telangiectasia,_hereditary_hemorrhagic,_type_2'] | CCCGGTGGATGAGGACCAAGGGCTCTCATGAGCCTGGAGGGGTGAGGGAGTTTTTGGCTACTGGAATCACAGGCGGTGCCAGGCCTGGGTCAGAATTGGAATTCTGCTGGGCAGGGAGTGGGCTGGAGACGGGCCAGGGCTAGGTTCTTCTTTCTGCAGGACCGGGGTGGAACGAGAGGCAGCTGGGGGTGGCCTGCCACTGGGTTTGGGTCTGGATTAAGTTAAACCTAAGGGTCTGGGGTTCTGTGGGTGGGGTGGGCGAGGGAGGCAGCGCAGCATCAAGATGGGGGGCTCTTCCAGGGCTCTGTGTGCCCAGTGTG... | CCCGGTGGATGAGGACCAAGGGCTCTCATGAGCCTGGAGGGGTGAGGGAGTTTTTGGCTACTGGAATCACAGGCGGTGCCAGGCCTGGGTCAGAATTGGAATTCTGCTGGGCAGGGAGTGGGCTGGAGACGGGCCAGGGCTAGGTTCTTCTTTCTGCAGGACCGGGGTGGAACGAGAGGCAGCTGGGGGTGGCCTGCCACTGGGTTTGGGTCTGGATTAAGTTAAACCTAAGGGTCTGGGGTTCTGTGGGTGGGGTGGGCGAGGGAGGCAGCGCAGCATCAAGATGGGGGGCTCTTCCAGGGCTCTGTGTGCCCAGTGTG... | pathogenic | 197,414 |
Variant on chromosome 12, at position 51918985, affecting ACVRL1 (activin A receptor like type 1): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Cardiovascular_phenotype', 'Telangiectasia,_hereditary_hemorrhagic,_type_2'] | GCACTCCAGTCTGGGCGACAGAGTGAGACCCTGTCTCAAAAAAAGAAAATTTATTAAAATAAATAAATAAAATGAGAATAAAAATAGCTTCCAGTTGTTGAGATAATCTAAGTATTTAGAACAGTATCTAGAGCTAAATATTAGTGGCTGTTATTGTTGTAGATAGAATGAGTGCCTGACATCATATTGTCCCCATTTTACAGTTGAGGAGACGGGGGCACAGAATGACAGTGGGCTTGAGGCAGCATCAGGGTCCGAAACCGGGCAGTCTGCCCCGGGGCCAGTGCTCATCATCACTGTGTGCACTTAAACCTCTCTGG... | GCACTCCAGTCTGGGCGACAGAGTGAGACCCTGTCTCAAAAAAAGAAAATTTATTAAAATAAATAAATAAAATGAGAATAAAAATAGCTTCCAGTTGTTGAGATAATCTAAGTATTTAGAACAGTATCTAGAGCTAAATATTAGTGGCTGTTATTGTTGTAGATAGAATGAGTGCCTGACATCATATTGTCCCCATTTTACAGTTGAGGAGACGGGGGCACAGAATGACAGTGGGCTTGAGGCAGCATCAGGGTCCGAAACCGGGCAGTCTGCCCCGGGGCCAGTGCTCATCATCACTGTGTGCACTTAAACCTCTCTGG... | pathogenic | 197,439 |
Is the genetic variant on chromosome 12, position 51919061, gene ACVRL1 (activin A receptor like type 1), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Cardiovascular_phenotype', 'Telangiectasia,_hereditary_hemorrhagic,_type_2'] | AATAAAAATAGCTTCCAGTTGTTGAGATAATCTAAGTATTTAGAACAGTATCTAGAGCTAAATATTAGTGGCTGTTATTGTTGTAGATAGAATGAGTGCCTGACATCATATTGTCCCCATTTTACAGTTGAGGAGACGGGGGCACAGAATGACAGTGGGCTTGAGGCAGCATCAGGGTCCGAAACCGGGCAGTCTGCCCCGGGGCCAGTGCTCATCATCACTGTGTGCACTTAAACCTCTCTGGCCCTTGATTTCCTCATGCACGCAATGCATGTGAGTGCCTGCACTGCCTGCTTATTGCTGCCTGGTTGTTACTGTGG... | AATAAAAATAGCTTCCAGTTGTTGAGATAATCTAAGTATTTAGAACAGTATCTAGAGCTAAATATTAGTGGCTGTTATTGTTGTAGATAGAATGAGTGCCTGACATCATATTGTCCCCATTTTACAGTTGAGGAGACGGGGGCACAGAATGACAGTGGGCTTGAGGCAGCATCAGGGTCCGAAACCGGGCAGTCTGCCCCGGGGCCAGTGCTCATCATCACTGTGTGCACTTAAACCTCTCTGGCCCTTGATTTCCTCATGCACGCAATGCATGTGAGTGCCTGCACTGCCTGCTTATTGCTGCCTGGTTGTTACTGTGG... | pathogenic | 197,449 |
Gene ACVRL1 (activin A receptor like type 1) variant at chromosome position 51919080 on chromosome 12: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Telangiectasia,_hereditary_hemorrhagic,_type_2'] | TGTTGAGATAATCTAAGTATTTAGAACAGTATCTAGAGCTAAATATTAGTGGCTGTTATTGTTGTAGATAGAATGAGTGCCTGACATCATATTGTCCCCATTTTACAGTTGAGGAGACGGGGGCACAGAATGACAGTGGGCTTGAGGCAGCATCAGGGTCCGAAACCGGGCAGTCTGCCCCGGGGCCAGTGCTCATCATCACTGTGTGCACTTAAACCTCTCTGGCCCTTGATTTCCTCATGCACGCAATGCATGTGAGTGCCTGCACTGCCTGCTTATTGCTGCCTGGTTGTTACTGTGGGTTGCCACAGGGGACTCTG... | TGTTGAGATAATCTAAGTATTTAGAACAGTATCTAGAGCTAAATATTAGTGGCTGTTATTGTTGTAGATAGAATGAGTGCCTGACATCATATTGTCCCCATTTTACAGTTGAGGAGACGGGGGCACAGAATGACAGTGGGCTTGAGGCAGCATCAGGGTCCGAAACCGGGCAGTCTGCCCCGGGGCCAGTGCTCATCATCACTGTGTGCACTTAAACCTCTCTGGCCCTTGATTTCCTCATGCACGCAATGCATGTGAGTGCCTGCACTGCCTGCTTATTGCTGCCTGGTTGTTACTGTGGGTTGCCACAGGGGACTCTG... | pathogenic | 197,451 |
Evaluate the clinical significance of the mutation at chromosome 12, position 51919080 in gene ACVRL1 (activin A receptor like type 1): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Cardiovascular_phenotype', 'Telangiectasia,_hereditary_hemorrhagic,_type_2'] | TGTTGAGATAATCTAAGTATTTAGAACAGTATCTAGAGCTAAATATTAGTGGCTGTTATTGTTGTAGATAGAATGAGTGCCTGACATCATATTGTCCCCATTTTACAGTTGAGGAGACGGGGGCACAGAATGACAGTGGGCTTGAGGCAGCATCAGGGTCCGAAACCGGGCAGTCTGCCCCGGGGCCAGTGCTCATCATCACTGTGTGCACTTAAACCTCTCTGGCCCTTGATTTCCTCATGCACGCAATGCATGTGAGTGCCTGCACTGCCTGCTTATTGCTGCCTGGTTGTTACTGTGGGTTGCCACAGGGGACTCTG... | TGTTGAGATAATCTAAGTATTTAGAACAGTATCTAGAGCTAAATATTAGTGGCTGTTATTGTTGTAGATAGAATGAGTGCCTGACATCATATTGTCCCCATTTTACAGTTGAGGAGACGGGGGCACAGAATGACAGTGGGCTTGAGGCAGCATCAGGGTCCGAAACCGGGCAGTCTGCCCCGGGGCCAGTGCTCATCATCACTGTGTGCACTTAAACCTCTCTGGCCCTTGATTTCCTCATGCACGCAATGCATGTGAGTGCCTGCACTGCCTGCTTATTGCTGCCTGGTTGTTACTGTGGGTTGCCACAGGGGACTCTG... | pathogenic | 197,452 |
The mutation impacting ACVRL1 (activin A receptor like type 1) on chromosome 12 at position 51919363: benign or pathogenic? Name the associated disease(s) if pathogenic. | benign | GCCTGGTTGTTACTGTGGGTTGCCACAGGGGACTCTGATTTAGAGGGACTGCGACAGGTAGAGAGACCTGCCCTGGGCAGGCAGCCCTGAGGTCGATGTTCTCTCAGCCCTGGAGTGGACGGAGGATAGGTGGGTCGTCTAGACTGGTGGGAGCATTGTCAACCTTTGAGGAGGCTGTCCATGGTGAGGGACTTCCAGGAGTCGTGACAGGTTGGGGACAATCCTCAGGATATGGCTGGAGCCCTGCTTCTTGGGGACAAGGATGTCCTCATTTCCTGAGCATCTACCAGGAGCCAGCCCCATGCCAGACTTCATTTGTC... | GCCTGGTTGTTACTGTGGGTTGCCACAGGGGACTCTGATTTAGAGGGACTGCGACAGGTAGAGAGACCTGCCCTGGGCAGGCAGCCCTGAGGTCGATGTTCTCTCAGCCCTGGAGTGGACGGAGGATAGGTGGGTCGTCTAGACTGGTGGGAGCATTGTCAACCTTTGAGGAGGCTGTCCATGGTGAGGGACTTCCAGGAGTCGTGACAGGTTGGGGACAATCCTCAGGATATGGCTGGAGCCCTGCTTCTTGGGGACAAGGATGTCCTCATTTCCTGAGCATCTACCAGGAGCCAGCCCCATGCCAGACTTCATTTGTC... | benign | 197,459 |
Is the genetic variant on chromosome 12, position 51919363, gene ACVRL1 (activin A receptor like type 1), benign or pathogenic? If pathogenic, what disease(s) is indicated? | benign | GCCTGGTTGTTACTGTGGGTTGCCACAGGGGACTCTGATTTAGAGGGACTGCGACAGGTAGAGAGACCTGCCCTGGGCAGGCAGCCCTGAGGTCGATGTTCTCTCAGCCCTGGAGTGGACGGAGGATAGGTGGGTCGTCTAGACTGGTGGGAGCATTGTCAACCTTTGAGGAGGCTGTCCATGGTGAGGGACTTCCAGGAGTCGTGACAGGTTGGGGACAATCCTCAGGATATGGCTGGAGCCCTGCTTCTTGGGGACAAGGATGTCCTCATTTCCTGAGCATCTACCAGGAGCCAGCCCCATGCCAGACTTCATTTGTC... | GCCTGGTTGTTACTGTGGGTTGCCACAGGGGACTCTGATTTAGAGGGACTGCGACAGGTAGAGAGACCTGCCCTGGGCAGGCAGCCCTGAGGTCGATGTTCTCTCAGCCCTGGAGTGGACGGAGGATAGGTGGGTCGTCTAGACTGGTGGGAGCATTGTCAACCTTTGAGGAGGCTGTCCATGGTGAGGGACTTCCAGGAGTCGTGACAGGTTGGGGACAATCCTCAGGATATGGCTGGAGCCCTGCTTCTTGGGGACAAGGATGTCCTCATTTCCTGAGCATCTACCAGGAGCCAGCCCCATGCCAGACTTCATTTGTC... | benign | 197,460 |
Located at chromosome 12 position 51920505, the variant affecting gene ACVRL1 (activin A receptor like type 1)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | benign | GCTCTTAGGACAGCACCTGGCATACAGTGCTCAGTAAACATTTGGTGTTATTATTATCAGGCATGTGTGATAGTTGGGGCCTGGGAGCAGTCCCGGGCACTGGGTGGAAGGCAGCTGAGGGAAGACTGGAACAAGGCTGGCCTAGGAATCCGAGATGGGTTTGAGTCTTGCCTCTGCCATTACTAGCTGTGGAACCTTGGGCCCCCCTTCTCTGAGCATCAGTTTCTTCATCTGTAAAATGGAGGTAATACTAGTACCCACCCCACAGGGCTGTTGTGAGGACAAACAGGATAAAGCATGTAAAGTGTTTACAGCAGAAT... | GCTCTTAGGACAGCACCTGGCATACAGTGCTCAGTAAACATTTGGTGTTATTATTATCAGGCATGTGTGATAGTTGGGGCCTGGGAGCAGTCCCGGGCACTGGGTGGAAGGCAGCTGAGGGAAGACTGGAACAAGGCTGGCCTAGGAATCCGAGATGGGTTTGAGTCTTGCCTCTGCCATTACTAGCTGTGGAACCTTGGGCCCCCCTTCTCTGAGCATCAGTTTCTTCATCTGTAAAATGGAGGTAATACTAGTACCCACCCCACAGGGCTGTTGTGAGGACAAACAGGATAAAGCATGTAAAGTGTTTACAGCAGAAT... | benign | 197,465 |
Considering the genetic mutation at chromosome 12, position 51920931, impacting ACVRL1 (activin A receptor like type 1): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | benign | GGTTTCTGGCCCTTGGATAGAGGGTAGAAAAGGCTCTCCTCTGGGTGGTATTGGGCCTCCTTAGAGTCCCAAGTGATTGTCCTGTCCATTCTCCATTTCCAGGCATCGTGGAGGACTATAGACCACCCTTCTATGATGTGGTGCCCAATGACCCCAGCTTTGAGGACATGAAGAAGGTGGTGTGTGTGGATCAGCAGACCCCCACCATCCCTAACCGGCTGGCTGCAGACCCGGTGAGGCCTCTGCTGGGACTAGGATGGCGTGGGGTGGTGGCTCATGGCTGGGATTTCTGGGCCCAGGAACTTGTGTCTGAGGCCTCT... | GGTTTCTGGCCCTTGGATAGAGGGTAGAAAAGGCTCTCCTCTGGGTGGTATTGGGCCTCCTTAGAGTCCCAAGTGATTGTCCTGTCCATTCTCCATTTCCAGGCATCGTGGAGGACTATAGACCACCCTTCTATGATGTGGTGCCCAATGACCCCAGCTTTGAGGACATGAAGAAGGTGGTGTGTGTGGATCAGCAGACCCCCACCATCCCTAACCGGCTGGCTGCAGACCCGGTGAGGCCTCTGCTGGGACTAGGATGGCGTGGGGTGGTGGCTCATGGCTGGGATTTCTGGGCCCAGGAACTTGTGTCTGAGGCCTCT... | benign | 197,490 |
Determine if the mutation at chromosome 12, position 52451560 in gene KRT6B (keratin 6B) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Pachyonychia_congenita_4'] | GCAATCTCCTCATATTGGGCCTTGACCTCAGCGATGATGCTGTCCAGGTCCAGGTTGCGGTTGTTGTCCATGGATAGCACCACGGATGTGTCTGAGATGTGGGTCTGCATCTGGGACAGCTCCTGCAGAACAGAAGGTCATAAGATCAACTTCACTTCTGACATTTACAGAGATGCCCAGCCCTGTACATCTTCTCCCCTTTGCAGACCCCATCAGAGTAAACAGAAGGATGGTGGAGTTGCTTACTGCATCATACAAGGCTCTCAGGAAGTTGATCTCATCTGTAAGAGTGTCTGCCTTGGCTTGCAGTTCAACCTTGT... | GCAATCTCCTCATATTGGGCCTTGACCTCAGCGATGATGCTGTCCAGGTCCAGGTTGCGGTTGTTGTCCATGGATAGCACCACGGATGTGTCTGAGATGTGGGTCTGCATCTGGGACAGCTCCTGCAGAACAGAAGGTCATAAGATCAACTTCACTTCTGACATTTACAGAGATGCCCAGCCCTGTACATCTTCTCCCCTTTGCAGACCCCATCAGAGTAAACAGAAGGATGGTGGAGTTGCTTACTGCATCATACAAGGCTCTCAGGAAGTTGATCTCATCTGTAAGAGTGTCTGCCTTGGCTTGCAGTTCAACCTTGT... | pathogenic | 197,667 |
Evaluate if the mutation on chromosome 12 at position 52515065 in KRT5 (keratin 5) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Epidermolysis_bullosa_simplex', 'Epidermolysis_bullosa_simplex_with_migratory_circinate_erythema', 'Epidermolysis_bullosa_simplex_with_mottled_pigmentation', 'KRT5-related_disorder'] | TTAAAACAAAGATCCATAATTTGATACAATTGGAAATCCAAAATTGGCTAAAATAATTTATACATCTAAAAGATAAAAAGGTGTGCAGGCTGTCTTGGTGTCTCCACCACATAAATTCTGAATTTACTTTCACATTTGCTGACATACAATAATTGACAATTCTTCATGGTCTTAATCCATACTGAAGCTCAAATAATACTTATACCTGGGGATCCTATTAAATTTAAACAAGGTACCCCTGTAATCTTGGGGAAGTTAATGAACAAAAAATAGAGAACAAACAGGCATGCCTCACTTTAATTAGCAGAACTACTGACTTG... | TTAAAACAAAGATCCATAATTTGATACAATTGGAAATCCAAAATTGGCTAAAATAATTTATACATCTAAAAGATAAAAAGGTGTGCAGGCTGTCTTGGTGTCTCCACCACATAAATTCTGAATTTACTTTCACATTTGCTGACATACAATAATTGACAATTCTTCATGGTCTTAATCCATACTGAAGCTCAAATAATACTTATACCTGGGGATCCTATTAAATTTAAACAAGGTACCCCTGTAATCTTGGGGAAGTTAATGAACAAAAAATAGAGAACAAACAGGCATGCCTCACTTTAATTAGCAGAACTACTGACTTG... | pathogenic | 197,731 |
Does the variant impacting KRT71 (keratin 71) on chromosome 12, position 52548000, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | benign | CAGATCAGGAAGAGGGAACAAGAATGCCTAATAGAGTAATGGGGTTTTGCAGGGAGCAGGGCGGTGGTTGTTTCTAGTATGCCCAGGAAGAACGAGCAAATCTGCATAGCTTACTACATAGCATAGTGCCTGCCATGAAGCAAGCTCTCACAGTCTACTGAGTGGATACTCATGTCCACTCATGGTAGTATTGTTAATTACTGTGATTATTTCTATCCTCATCACCCCATCACTTCCTAAGAACTCATCTCTTCTGGATTGAGATGTGTTAGGCTTTCTCCTTTGGGTCTTCCCAAACCCCTGGGGCCCTCCTGTCTGGG... | CAGATCAGGAAGAGGGAACAAGAATGCCTAATAGAGTAATGGGGTTTTGCAGGGAGCAGGGCGGTGGTTGTTTCTAGTATGCCCAGGAAGAACGAGCAAATCTGCATAGCTTACTACATAGCATAGTGCCTGCCATGAAGCAAGCTCTCACAGTCTACTGAGTGGATACTCATGTCCACTCATGGTAGTATTGTTAATTACTGTGATTATTTCTATCCTCATCACCCCATCACTTCCTAAGAACTCATCTCTTCTGGATTGAGATGTGTTAGGCTTTCTCCTTTGGGTCTTCCCAAACCCCTGGGGCCCTCCTGTCTGGG... | benign | 197,805 |
Is the chromosome 12, position 52651839 variant in KRT2 (keratin 2) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | benign | CTCACTCCTTTCTCTGGCTGCTGCTTTTGCACTCACAGTTGATTTCCAAACTGGCTGCTTAGACACAATGGGGCTGTGAAGCACTCCTATCCCCACCCCCAGCCAAGACATTCTCTCGCTCACCTTTTTAAGCGTCACAAAATCATTCTCAGCAGCTGTGCGCTTATTGATTTCATCCTCATACCTATTGGGACACAGATGTTACAGCAGTTAGATTAGTTCCCCTTCATTTTTTTTCTTTTCCTTTTATACTGGATTCACCCCAAATGCCCCATTCTCTGGGAATATTACACACTTTTTAAATATCTAAATTGAAACTA... | CTCACTCCTTTCTCTGGCTGCTGCTTTTGCACTCACAGTTGATTTCCAAACTGGCTGCTTAGACACAATGGGGCTGTGAAGCACTCCTATCCCCACCCCCAGCCAAGACATTCTCTCGCTCACCTTTTTAAGCGTCACAAAATCATTCTCAGCAGCTGTGCGCTTATTGATTTCATCCTCATACCTATTGGGACACAGATGTTACAGCAGTTAGATTAGTTCCCCTTCATTTTTTTTCTTTTCCTTTTATACTGGATTCACCCCAAATGCCCCATTCTCTGGGAATATTACACACTTTTTAAATATCTAAATTGAAACTA... | benign | 197,899 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 12, position 52675438, gene KRT1 (keratin 1). What disease(s) is it linked to if pathogenic? | benign | AGACGAGTTTAAGGAATTTGGCTCAGGGCGAAGGCTAGTTTCTGTGTGTTTAACAAAAGGGCTATTTCCCAGTGTTTCCCAGCAACAACTAAACAGCTTTGTCAGTGCCTGAGAATGCCCGAGACCCAGCTTTGCTTCAAGCCTGCAAAGGAAAGCATGCAGCTGGCCAAGTGATGGAGTAGACAAGGCACACTGTGTTTCCCGGTCAGGACACAGAAAGACAGCAGGGGACACTGGGGTCCCTACAGAAGGGATAACTGAGAAGGAAGAATAGAGCTCACCTGAGTTGTGTTTGCATAATACATGTGTGATCTATCCTC... | AGACGAGTTTAAGGAATTTGGCTCAGGGCGAAGGCTAGTTTCTGTGTGTTTAACAAAAGGGCTATTTCCCAGTGTTTCCCAGCAACAACTAAACAGCTTTGTCAGTGCCTGAGAATGCCCGAGACCCAGCTTTGCTTCAAGCCTGCAAAGGAAAGCATGCAGCTGGCCAAGTGATGGAGTAGACAAGGCACACTGTGTTTCCCGGTCAGGACACAGAAAGACAGCAGGGGACACTGGGGTCCCTACAGAAGGGATAACTGAGAAGGAAGAATAGAGCTCACCTGAGTTGTGTTTGCATAATACATGTGTGATCTATCCTC... | benign | 197,909 |
Does the variant impacting KRT4 (keratin 4) on chromosome 12, position 52813799, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | benign | CTCCCCATGTACTTAGTCTTGAAGTCCTCCACGCTGTCCTGCATGGTCTTCAGCTCAGACTGCAGGCGCCCTTTGTCATTGCCCAAGGTATCTAGCTGCTTCCTCAGGACACTGAGGTAGGTCTCAAAGAGGGGCTCAAGGTTTTTGCTGGAGGTGGTGGTCGTCTGCTGCTGGAGCAGGTTCCATTTGGTCTCCAGGACCTTATTCTGTTGCTCTAAGAACTGCACCTGTGTTGATAAAGGCACCAGCCAAGTGATGAGGGCCTGAAGTGTGGCAGGAGGGCCAGCCAAGGCAACACCAACCCAGTCAATCCCAGGGAA... | CTCCCCATGTACTTAGTCTTGAAGTCCTCCACGCTGTCCTGCATGGTCTTCAGCTCAGACTGCAGGCGCCCTTTGTCATTGCCCAAGGTATCTAGCTGCTTCCTCAGGACACTGAGGTAGGTCTCAAAGAGGGGCTCAAGGTTTTTGCTGGAGGTGGTGGTCGTCTGCTGCTGGAGCAGGTTCCATTTGGTCTCCAGGACCTTATTCTGTTGCTCTAAGAACTGCACCTGTGTTGATAAAGGCACCAGCCAAGTGATGAGGGCCTGAAGTGTGGCAGGAGGGCCAGCCAAGGCAACACCAACCCAGTCAATCCCAGGGAA... | benign | 197,976 |
A genetic variant at chromosome 12, position 53307894, affecting gene AAAS (aladin WD repeat nucleoporin)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Glucocorticoid_deficiency_with_achalasia'] | CATGTAAGATTTCACATAAGTAGCAGGTAGCCTCAAGAAGGTTTCCCCTGCTGCTGCCTTAGATGTATGAGAACTTTGTGGAGGAGGTGGATGCTGTGGACAATGGGATCTCCCAGTGGGCAGAGGGGGAGCCTCGATATGCACTGACCACTACCCTGAGTGCACGAGTTGCTCGACTTAATCCTACCTGGAACCACCCCGACCAAGACACTGAGGTAAGGTGGCCTGGGAGGAGACCCGGAGACCTGTAAGAACCTTGGGTGGGGGGAAAATGGGAGCATTTGCTCCTCCTAAGCCCTAGCAAATTCCAAGTTTGGGCC... | CATGTAAGATTTCACATAAGTAGCAGGTAGCCTCAAGAAGGTTTCCCCTGCTGCTGCCTTAGATGTATGAGAACTTTGTGGAGGAGGTGGATGCTGTGGACAATGGGATCTCCCAGTGGGCAGAGGGGGAGCCTCGATATGCACTGACCACTACCCTGAGTGCACGAGTTGCTCGACTTAATCCTACCTGGAACCACCCCGACCAAGACACTGAGGTAAGGTGGCCTGGGAGGAGACCCGGAGACCTGTAAGAACCTTGGGTGGGGGGAAAATGGGAGCATTTGCTCCTCCTAAGCCCTAGCAAATTCCAAGTTTGGGCC... | pathogenic | 198,055 |
Is chromosome 12, position 53308339, gene AAAS (aladin WD repeat nucleoporin) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['AAAS-related_disorder', 'Glucocorticoid_deficiency_with_achalasia'] | GTGGAAGAGGCCCTTGCCCAGCGATTCCAGGTATAGGCCTTGGAGGAGGCATTATGGCTTGAGGATTACTGACTGCCAATCAACAGGAACTCCTGCTTCTTCTACCCTAAACCCTGGAGTGCAGTGGCAGACAACCTCAACCTCTTAGGCTCAAGCAGTCCTCCCACCTCAGCCTCCTGAGTAGCTGGGACTACAGGCACACACCACCTCACCCAGCTAATTTTTGTATTTTTTGTAGAGACAGGGTCTTACTTTGTTGCCTAGGCTAGTCTCAAATTCCTGGGCTCAACTGATCCTCCCACCTCAGCCTCCCAAAATGT... | GTGGAAGAGGCCCTTGCCCAGCGATTCCAGGTATAGGCCTTGGAGGAGGCATTATGGCTTGAGGATTACTGACTGCCAATCAACAGGAACTCCTGCTTCTTCTACCCTAAACCCTGGAGTGCAGTGGCAGACAACCTCAACCTCTTAGGCTCAAGCAGTCCTCCCACCTCAGCCTCCTGAGTAGCTGGGACTACAGGCACACACCACCTCACCCAGCTAATTTTTGTATTTTTTGTAGAGACAGGGTCTTACTTTGTTGCCTAGGCTAGTCTCAAATTCCTGGGCTCAACTGATCCTCCCACCTCAGCCTCCCAAAATGT... | pathogenic | 198,058 |
Clinical significance of chromosome 12, position 53308468, gene AAAS (aladin WD repeat nucleoporin): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Glucocorticoid_deficiency_with_achalasia'] | GACAACCTCAACCTCTTAGGCTCAAGCAGTCCTCCCACCTCAGCCTCCTGAGTAGCTGGGACTACAGGCACACACCACCTCACCCAGCTAATTTTTGTATTTTTTGTAGAGACAGGGTCTTACTTTGTTGCCTAGGCTAGTCTCAAATTCCTGGGCTCAACTGATCCTCCCACCTCAGCCTCCCAAAATGTTGTGACTACAAACATGATCACCATGCCCAGCCTACCTTAAACCTTCTAGCTATGCTCTCCCTCTTTCAGGTGGACCCAAGTGGAGAGATTGTGGAACTGGCGAAAGGTGCATGTCCCTGGAAGGAGCAT... | GACAACCTCAACCTCTTAGGCTCAAGCAGTCCTCCCACCTCAGCCTCCTGAGTAGCTGGGACTACAGGCACACACCACCTCACCCAGCTAATTTTTGTATTTTTTGTAGAGACAGGGTCTTACTTTGTTGCCTAGGCTAGTCTCAAATTCCTGGGCTCAACTGATCCTCCCACCTCAGCCTCCCAAAATGTTGTGACTACAAACATGATCACCATGCCCAGCCTACCTTAAACCTTCTAGCTATGCTCTCCCTCTTTCAGGTGGACCCAAGTGGAGAGATTGTGGAACTGGCGAAAGGTGCATGTCCCTGGAAGGAGCAT... | pathogenic | 198,060 |
Regarding the variant found on chromosome 12 at position 53308744 in gene AAAS (aladin WD repeat nucleoporin): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['AAAS-related_disorder'] | AGATTGTGGAACTGGCGAAAGGTGCATGTCCCTGGAAGGAGCATCTCTACCACCTGGAATCTGGGCTGTCCCCTCCAGTGGCCATCTTCTTTGTTATCTACACTGACCAGGCTGGACAGTGGCGAATACAGTGTGTGCCCAAGGAGCCCCACTCATTCCAAAGCCGGTGAGGCCCTAGGGAACCACTCTGCAGACCTTCAGGCTTGTCTCAGCCTTGTTAAGAGAAGGCTGCCAACTCTGACCCCTGCTGTACTCCCTCTTTCTGCCCAGGCTGCCCCTGCCAGAGCCATGGCGGGGTCTTCGGGACGAGGCCCTGGACC... | AGATTGTGGAACTGGCGAAAGGTGCATGTCCCTGGAAGGAGCATCTCTACCACCTGGAATCTGGGCTGTCCCCTCCAGTGGCCATCTTCTTTGTTATCTACACTGACCAGGCTGGACAGTGGCGAATACAGTGTGTGCCCAAGGAGCCCCACTCATTCCAAAGCCGGTGAGGCCCTAGGGAACCACTCTGCAGACCTTCAGGCTTGTCTCAGCCTTGTTAAGAGAAGGCTGCCAACTCTGACCCCTGCTGTACTCCCTCTTTCTGCCCAGGCTGCCCCTGCCAGAGCCATGGCGGGGTCTTCGGGACGAGGCCCTGGACC... | pathogenic | 198,062 |
The genetic variant at chromosome 12, position 53309018, affecting gene AAAS (aladin WD repeat nucleoporin): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Glucocorticoid_deficiency_with_achalasia'] | CCCCTGCCAGAGCCATGGCGGGGTCTTCGGGACGAGGCCCTGGACCAGGTCAGTGGGATCCCTGGCTGCATCTTCGTCCATGCAAGCGGCTTCACTGGCGGTCACCACACCCGAGAGGGTGCCTTGAGCATGGCCCGTGCCACCTTGGCCCAGCGCTCATACCTCCCACAAATCTCCTAGTCTAATAAAACCTTCCATCTCATACTGACCCAGTCCTTGACTTATTCTTGCCCTACACCATTCCAGAAACTTGTGAAAAGTGAAACAACTATTTATGTGTAAGACCCTGTGCTAGATATATTTTCTTCACAGTAACTTCT... | CCCCTGCCAGAGCCATGGCGGGGTCTTCGGGACGAGGCCCTGGACCAGGTCAGTGGGATCCCTGGCTGCATCTTCGTCCATGCAAGCGGCTTCACTGGCGGTCACCACACCCGAGAGGGTGCCTTGAGCATGGCCCGTGCCACCTTGGCCCAGCGCTCATACCTCCCACAAATCTCCTAGTCTAATAAAACCTTCCATCTCATACTGACCCAGTCCTTGACTTATTCTTGCCCTACACCATTCCAGAAACTTGTGAAAAGTGAAACAACTATTTATGTGTAAGACCCTGTGCTAGATATATTTTCTTCACAGTAACTTCT... | pathogenic | 198,064 |
Does the variant impacting AAAS (aladin WD repeat nucleoporin) on chromosome 12, position 53309639, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Glucocorticoid_deficiency_with_achalasia'] | ATGAATAGAGCCTCCACCCCCAGCAGGGGGTTCCTGGGCCCGCCCAAGCACTGGGCTAAAACGTGGAAACTGGGCATTGACAAAGTACAGCGGGATGTGGGCAATTCGGCCTGTGGACCAGCCCTGCAGAGAAGGGAAAGAAAAGGATCAGAGTCTGGGCCCAAAGAAGGGCCACCTGGCAGAGCCATACAGCAGCCAAGGCCCTCAGCTTCTCCATCCAACTCCTGGAAGCCCCAGCAGCCTGGCGCACTCACCACACTGAGCAGGGCCCCTTTGTTGAAGGAAGGATGGAAAGTGATGAGCTGGGGCTGGGCTCCTGG... | ATGAATAGAGCCTCCACCCCCAGCAGGGGGTTCCTGGGCCCGCCCAAGCACTGGGCTAAAACGTGGAAACTGGGCATTGACAAAGTACAGCGGGATGTGGGCAATTCGGCCTGTGGACCAGCCCTGCAGAGAAGGGAAAGAAAAGGATCAGAGTCTGGGCCCAAAGAAGGGCCACCTGGCAGAGCCATACAGCAGCCAAGGCCCTCAGCTTCTCCATCCAACTCCTGGAAGCCCCAGCAGCCTGGCGCACTCACCACACTGAGCAGGGCCCCTTTGTTGAAGGAAGGATGGAAAGTGATGAGCTGGGGCTGGGCTCCTGG... | pathogenic | 198,072 |
For chromosome 12, position 53309648, gene AAAS (aladin WD repeat nucleoporin): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Glucocorticoid_deficiency_with_achalasia'] | GCCTCCACCCCCAGCAGGGGGTTCCTGGGCCCGCCCAAGCACTGGGCTAAAACGTGGAAACTGGGCATTGACAAAGTACAGCGGGATGTGGGCAATTCGGCCTGTGGACCAGCCCTGCAGAGAAGGGAAAGAAAAGGATCAGAGTCTGGGCCCAAAGAAGGGCCACCTGGCAGAGCCATACAGCAGCCAAGGCCCTCAGCTTCTCCATCCAACTCCTGGAAGCCCCAGCAGCCTGGCGCACTCACCACACTGAGCAGGGCCCCTTTGTTGAAGGAAGGATGGAAAGTGATGAGCTGGGGCTGGGCTCCTGGCTCCCCCTG... | GCCTCCACCCCCAGCAGGGGGTTCCTGGGCCCGCCCAAGCACTGGGCTAAAACGTGGAAACTGGGCATTGACAAAGTACAGCGGGATGTGGGCAATTCGGCCTGTGGACCAGCCCTGCAGAGAAGGGAAAGAAAAGGATCAGAGTCTGGGCCCAAAGAAGGGCCACCTGGCAGAGCCATACAGCAGCCAAGGCCCTCAGCTTCTCCATCCAACTCCTGGAAGCCCCAGCAGCCTGGCGCACTCACCACACTGAGCAGGGCCCCTTTGTTGAAGGAAGGATGGAAAGTGATGAGCTGGGGCTGGGCTCCTGGCTCCCCCTG... | pathogenic | 198,073 |
Clinical classification of chromosome 12, position 53320604, gene AAAS (aladin WD repeat nucleoporin): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Glucocorticoid_deficiency_with_achalasia'] | TAATTAATATGAACAAGGTAATCTAAGTAGAAAGTAGCAGTCAGGATTCAACCATCTATCTACCCCAGAACCTATACTCAAACCACTTTTTCCTGAATGAGTAATATGATCATTCCTTAAAGTGAACCATCCAGAGAAGCAGATTTGGAGAGAGAAATAAAGAGACTGGATTTGAGCATGCTGAATATATGAAGTCTGCGAAATATTCAAGCAGGATAATTTGGCAAACACGTGAACACCAGGTCTGATGCATCAACTGGAAATCTAGCCCCAAGAACACCAACATTTAAGGGACATCAGGAAGAGGAGCCACCAAAAAC... | TAATTAATATGAACAAGGTAATCTAAGTAGAAAGTAGCAGTCAGGATTCAACCATCTATCTACCCCAGAACCTATACTCAAACCACTTTTTCCTGAATGAGTAATATGATCATTCCTTAAAGTGAACCATCCAGAGAAGCAGATTTGGAGAGAGAAATAAAGAGACTGGATTTGAGCATGCTGAATATATGAAGTCTGCGAAATATTCAAGCAGGATAATTTGGCAAACACGTGAACACCAGGTCTGATGCATCAACTGGAAATCTAGCCCCAAGAACACCAACATTTAAGGGACATCAGGAAGAGGAGCCACCAAAAAC... | pathogenic | 198,092 |
Variant in AAAS (aladin WD repeat nucleoporin), chromosome 12, position 53321407—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Glucocorticoid_deficiency_with_achalasia'] | TTTGTACTTTTCTTGTAGAGAAAAGAACATGGTTTCGCCATGTTCCCCAGGCTAGTCTCAAACTACTAAGCTCAAGCAATCTGCTGGCCTCAGCCTACCAAAGCGCTGGGATTATAGGCGTGAGTCACTGTGCCTGGCATAAATAACCCTTAAAGGAATTAATATGTGCCATTAATAGGTCCAGGTGCAGTAGCTGTAATCTCAGCACTTTGGGAGGCCAAGGCAGGCCTGAGGTCAGGAGGCCAGACCACCCTGGCCAACATGGTGAAATCTCATCTCTACTAAAATACAAAAAGTTAGCTGGGCGTGGTGGCACATGC... | TTTGTACTTTTCTTGTAGAGAAAAGAACATGGTTTCGCCATGTTCCCCAGGCTAGTCTCAAACTACTAAGCTCAAGCAATCTGCTGGCCTCAGCCTACCAAAGCGCTGGGATTATAGGCGTGAGTCACTGTGCCTGGCATAAATAACCCTTAAAGGAATTAATATGTGCCATTAATAGGTCCAGGTGCAGTAGCTGTAATCTCAGCACTTTGGGAGGCCAAGGCAGGCCTGAGGTCAGGAGGCCAGACCACCCTGGCCAACATGGTGAAATCTCATCTCTACTAAAATACAAAAAGTTAGCTGGGCGTGGTGGCACATGC... | pathogenic | 198,097 |
Clinical impact (benign or pathogenic) of the variant at chromosome 12, location 53335707, gene SP7 (Sp7 transcription factor): what disease(s) if pathogenic? | benign | ATTTCTTCCCCTTCCCTGTTCCCCTGAATCTCACTTGGCCGAGGTGAGCCCCCCATCAAGCAGCAGCTGCTTCCCACTGCCAGAGAGCCCACCCATACAAGGTGGAGGGCTTCCTGGGGAGGTGGGGAGGAAGTTGAGGGCCCAGGTACTCAAAAACTAGGTGCAAGTGGTCGAGGGACAGGAGGGACTGGTGTGCCTTCGTGTTGCAGGCATCTCCAGCTCACAGGAGTGAGGGGACATGAAAGTCTAGCTTCCACAACACTCTCCTTTCGCCATGCACTATCCCAATCCCATGTCTTTCCAGCAGGCCTCTGGGCCAG... | ATTTCTTCCCCTTCCCTGTTCCCCTGAATCTCACTTGGCCGAGGTGAGCCCCCCATCAAGCAGCAGCTGCTTCCCACTGCCAGAGAGCCCACCCATACAAGGTGGAGGGCTTCCTGGGGAGGTGGGGAGGAAGTTGAGGGCCCAGGTACTCAAAAACTAGGTGCAAGTGGTCGAGGGACAGGAGGGACTGGTGTGCCTTCGTGTTGCAGGCATCTCCAGCTCACAGGAGTGAGGGGACATGAAAGTCTAGCTTCCACAACACTCTCCTTTCGCCATGCACTATCCCAATCCCATGTCTTTCCAGCAGGCCTCTGGGCCAG... | benign | 198,111 |
Benign or pathogenic: chromosome 12, position 54283202, gene HNRNPA1 (heterogeneous nuclear ribonucleoprotein A1) variant? Disease(s) if pathogenic? | benign | AGCCTTTGTTGCGCGTGCGTCGGAAGGCGACTAGGGACGCATGCGCTTGCGATTTCCTAGCACTCCCAACTCCAGCATACGGCCTCCCTTGATAGGCAGAAGCACGTGTCTTGTTGCGACCTGAACGAACAATAAGTGCTAGGTACACAGTTGGTGTCTAGTTTTTCTTTTCCTCGATGGAAATTGTTTCGTGTTGTAGCCCATTTAACACTTCCCCCTCCCCCCACTCTAGTCTCCTAAAGAGCCCGAACAGCTGAGGAAGCTCTTCATTGGAGGGTTGAGCTTTGAAACAACTGATGAGAGCCTGAGGAGCCATTTTG... | AGCCTTTGTTGCGCGTGCGTCGGAAGGCGACTAGGGACGCATGCGCTTGCGATTTCCTAGCACTCCCAACTCCAGCATACGGCCTCCCTTGATAGGCAGAAGCACGTGTCTTGTTGCGACCTGAACGAACAATAAGTGCTAGGTACACAGTTGGTGTCTAGTTTTTCTTTTCCTCGATGGAAATTGTTTCGTGTTGTAGCCCATTTAACACTTCCCCCTCCCCCCACTCTAGTCTCCTAAAGAGCCCGAACAGCTGAGGAAGCTCTTCATTGGAGGGTTGAGCTTTGAAACAACTGATGAGAGCCTGAGGAGCCATTTTG... | benign | 198,152 |
Determine whether the variant at chromosome 12, position 55721251, in gene RDH5 is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Pigmentary_retinal_dystrophy'] | AACTTCAACCAGGCACTCAAGGTGGGCCATACTCCCTACCTCACCACCCCAATCCTGGGCCCCCATTGGCTGCCTCCAGTCAGGTTACCTCAGGTTTAGGTTAAGGAGGAAGTAGGGTGGTCCCAGAAACCCCATCTATAGCCCCAGTGTCAGAAAAGGTAGAGAAAGAAAGAAAAGCAGTTGGTGGGTCCAAGTAAAGCCTTTTCCAGGAGATGAATAAAACGTATTCCCCAGACTGGAAGCCATACTCTACCCATTCTGATTCCTGGGCTCCCACCTCCTCTCCCCCTTCCCAGGAAATTGGGGATGTGGAGAACTGG... | AACTTCAACCAGGCACTCAAGGTGGGCCATACTCCCTACCTCACCACCCCAATCCTGGGCCCCCATTGGCTGCCTCCAGTCAGGTTACCTCAGGTTTAGGTTAAGGAGGAAGTAGGGTGGTCCCAGAAACCCCATCTATAGCCCCAGTGTCAGAAAAGGTAGAGAAAGAAAGAAAAGCAGTTGGTGGGTCCAAGTAAAGCCTTTTCCAGGAGATGAATAAAACGTATTCCCCAGACTGGAAGCCATACTCTACCCATTCTGATTCCTGGGCTCCCACCTCCTCTCCCCCTTCCCAGGAAATTGGGGATGTGGAGAACTGG... | pathogenic | 198,299 |
Variant at chromosome position 55723947, chromosome 12, gene CD63: benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Retinal_dystrophy'] | GCTACTGTGTCTCCAAATTTGGCCTGGAGGCCTTCTCTGACAGCCTGAGGTGAGGGGTACAGGGCTCTGGGTTCCAGGACTAACAGCAGCCCACTCAACAAACGTGGGCCAGCAGAGGTGGTTAAGATACAGCACATTGGAATAGTTAAGAAGAGACAGTTTAGGGCTAGACTTCATGGGTTCAATGAAGTCTACCCTTATGTAAGCTTTGTGACCATAAGTAGATTACTTCTCTTTACCCATTTTTAACGTGTTTGTTTTTTGTTTTTTGAGATGGAGTCTTGCTCTGTCGCCAGGCTGGAGTGCAGTGGCGCGATCTT... | GCTACTGTGTCTCCAAATTTGGCCTGGAGGCCTTCTCTGACAGCCTGAGGTGAGGGGTACAGGGCTCTGGGTTCCAGGACTAACAGCAGCCCACTCAACAAACGTGGGCCAGCAGAGGTGGTTAAGATACAGCACATTGGAATAGTTAAGAAGAGACAGTTTAGGGCTAGACTTCATGGGTTCAATGAAGTCTACCCTTATGTAAGCTTTGTGACCATAAGTAGATTACTTCTCTTTACCCATTTTTAACGTGTTTGTTTTTTGTTTTTTGAGATGGAGTCTTGCTCTGTCGCCAGGCTGGAGTGCAGTGGCGCGATCTT... | pathogenic | 198,322 |
The genetic variant at chromosome 12, position 55724401, affecting gene CD63: benign or pathogenic? Disease name(s) if pathogenic? | pathogenic | TTGGCCAGGTTGGTCTCAAACTCCTGACCTCGTGATCCGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCACGCCCGGCCTTGCCTCTCGTCTTTAAACAATAAGGTTCAAAGTTCCGTGGGAGCACAAAGGAGACATGATGAGGACAACGGGAGTAGGGCCTGAGTTTTTTTTTGTTTTTTTTTTTTTAAGCGTTTTGCTCTTGTTGCCTAGGCTGGAGTGCAATGGCGAGATCTCAGCTCACTGCAACCCCTGCCTCTCAGGTTCATGTGATTCTCCTGCCTCAGCCTCCCGATTAGCTGGGC... | TTGGCCAGGTTGGTCTCAAACTCCTGACCTCGTGATCCGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCACGCCCGGCCTTGCCTCTCGTCTTTAAACAATAAGGTTCAAAGTTCCGTGGGAGCACAAAGGAGACATGATGAGGACAACGGGAGTAGGGCCTGAGTTTTTTTTTGTTTTTTTTTTTTTAAGCGTTTTGCTCTTGTTGCCTAGGCTGGAGTGCAATGGCGAGATCTCAGCTCACTGCAACCCCTGCCTCTCAGGTTCATGTGATTCTCCTGCCTCAGCCTCCCGATTAGCTGGGC... | pathogenic | 198,325 |
A mutation at chromosome position 55724516 on chromosome 12 in gene CD63: benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Fundus_albipunctatus,_autosomal_recessive'] | ATAAGGTTCAAAGTTCCGTGGGAGCACAAAGGAGACATGATGAGGACAACGGGAGTAGGGCCTGAGTTTTTTTTTGTTTTTTTTTTTTTAAGCGTTTTGCTCTTGTTGCCTAGGCTGGAGTGCAATGGCGAGATCTCAGCTCACTGCAACCCCTGCCTCTCAGGTTCATGTGATTCTCCTGCCTCAGCCTCCCGATTAGCTGGGCTTACAGGCACGTGCCACCACTCCCAGCTAATTTTTTTGTATTTTTAGTAGAGATGGAGTTATACCATGTTGGCCAGGCTGGTTTTGAACTCCTGACCTCAGGTGATCCACCCGAC... | ATAAGGTTCAAAGTTCCGTGGGAGCACAAAGGAGACATGATGAGGACAACGGGAGTAGGGCCTGAGTTTTTTTTTGTTTTTTTTTTTTTAAGCGTTTTGCTCTTGTTGCCTAGGCTGGAGTGCAATGGCGAGATCTCAGCTCACTGCAACCCCTGCCTCTCAGGTTCATGTGATTCTCCTGCCTCAGCCTCCCGATTAGCTGGGCTTACAGGCACGTGCCACCACTCCCAGCTAATTTTTTTGTATTTTTAGTAGAGATGGAGTTATACCATGTTGGCCAGGCTGGTTTTGAACTCCTGACCTCAGGTGATCCACCCGAC... | pathogenic | 198,327 |
Variant at chromosome 12, position 56002602, gene SUOX (sulfite oxidase): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Sulfite_oxidase_deficiency'] | GCCGACTCTGGCCTTGGCCAGCCCAGAAAGGGGCTCCCACAGTGCAGCGGCGAGCTGAAGGGCTCCTCAAGTGCCGCCAAAGTGGGAGCCCAGGCAGAGGAGGCACCGAGAGTGAGCAAGGGCTGTGAGGACTGCCAGCACAATGTCACTTCTCACTAGGATTATAAGGGTGAGCCACCACACCCAGCTCTTTTATTACAGTATAATGTTATAATTTTTTTCTTTTTCTTTGTTTTTTTTTTGAGACGTTTGAGACGGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCCG... | GCCGACTCTGGCCTTGGCCAGCCCAGAAAGGGGCTCCCACAGTGCAGCGGCGAGCTGAAGGGCTCCTCAAGTGCCGCCAAAGTGGGAGCCCAGGCAGAGGAGGCACCGAGAGTGAGCAAGGGCTGTGAGGACTGCCAGCACAATGTCACTTCTCACTAGGATTATAAGGGTGAGCCACCACACCCAGCTCTTTTATTACAGTATAATGTTATAATTTTTTTCTTTTTCTTTGTTTTTTTTTTGAGACGTTTGAGACGGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCCG... | pathogenic | 198,349 |
Clinical classification of chromosome 12, position 56002633, gene SUOX (sulfite oxidase): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['SUOX-related_disorder', 'Sulfite_oxidase_deficiency', 'Sulfocysteinuria'] | GGCTCCCACAGTGCAGCGGCGAGCTGAAGGGCTCCTCAAGTGCCGCCAAAGTGGGAGCCCAGGCAGAGGAGGCACCGAGAGTGAGCAAGGGCTGTGAGGACTGCCAGCACAATGTCACTTCTCACTAGGATTATAAGGGTGAGCCACCACACCCAGCTCTTTTATTACAGTATAATGTTATAATTTTTTTCTTTTTCTTTGTTTTTTTTTTGAGACGTTTGAGACGGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCACGCCATTCTCCTGTCTCC... | GGCTCCCACAGTGCAGCGGCGAGCTGAAGGGCTCCTCAAGTGCCGCCAAAGTGGGAGCCCAGGCAGAGGAGGCACCGAGAGTGAGCAAGGGCTGTGAGGACTGCCAGCACAATGTCACTTCTCACTAGGATTATAAGGGTGAGCCACCACACCCAGCTCTTTTATTACAGTATAATGTTATAATTTTTTTCTTTTTCTTTGTTTTTTTTTTGAGACGTTTGAGACGGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCACGCCATTCTCCTGTCTCC... | pathogenic | 198,351 |
Gene mutation in SUOX (sulfite oxidase) at chromosome 12, position 56003811—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Inborn_genetic_diseases', 'Sulfite_oxidase_deficiency'] | TAGGCTGTCACTACTTTTTTTTCACTTTTTTATCCCTGTTTAAGTCAGTCTGACCCACAGTTGTCCTCTGCTGACTTCAGAAATAATAATCTGGCCAGTAGACATTTGGTTTCGGTCCTTTAGGCCCTTCGCCCCAGGCATCGTTCTCTATGGTGGACAAAGTTCAGAATGGAAGATGGGAGAAAGGTGATTCTGATTCTAGAAGCACCCATCCCTCCTACCCCATTCCCCACCCGCATTACCTGCCATCCTGTCAGCACAGTCTGTCTCTGAAGTGCTCCAAGTTTTCTCTAAGGGCCCATTTGGACTCCCACTCTCAA... | TAGGCTGTCACTACTTTTTTTTCACTTTTTTATCCCTGTTTAAGTCAGTCTGACCCACAGTTGTCCTCTGCTGACTTCAGAAATAATAATCTGGCCAGTAGACATTTGGTTTCGGTCCTTTAGGCCCTTCGCCCCAGGCATCGTTCTCTATGGTGGACAAAGTTCAGAATGGAAGATGGGAGAAAGGTGATTCTGATTCTAGAAGCACCCATCCCTCCTACCCCATTCCCCACCCGCATTACCTGCCATCCTGTCAGCACAGTCTGTCTCTGAAGTGCTCCAAGTTTTCTCTAAGGGCCCATTTGGACTCCCACTCTCAA... | pathogenic | 198,353 |
The mutation in gene SUOX (sulfite oxidase) at chromosome 12, position 56003908—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Sulfite_oxidase_deficiency'] | GTAGACATTTGGTTTCGGTCCTTTAGGCCCTTCGCCCCAGGCATCGTTCTCTATGGTGGACAAAGTTCAGAATGGAAGATGGGAGAAAGGTGATTCTGATTCTAGAAGCACCCATCCCTCCTACCCCATTCCCCACCCGCATTACCTGCCATCCTGTCAGCACAGTCTGTCTCTGAAGTGCTCCAAGTTTTCTCTAAGGGCCCATTTGGACTCCCACTCTCAAGACTCCTCACTTGCCCAGAAAGCTCCTTGCTGACCTTCTCTGTGTCTTCCTCTCACCCATTCCCTTAGGCCTCCCTAATATCCCCTCCCAGGGTCTC... | GTAGACATTTGGTTTCGGTCCTTTAGGCCCTTCGCCCCAGGCATCGTTCTCTATGGTGGACAAAGTTCAGAATGGAAGATGGGAGAAAGGTGATTCTGATTCTAGAAGCACCCATCCCTCCTACCCCATTCCCCACCCGCATTACCTGCCATCCTGTCAGCACAGTCTGTCTCTGAAGTGCTCCAAGTTTTCTCTAAGGGCCCATTTGGACTCCCACTCTCAAGACTCCTCACTTGCCCAGAAAGCTCCTTGCTGACCTTCTCTGTGTCTTCCTCTCACCCATTCCCTTAGGCCTCCCTAATATCCCCTCCCAGGGTCTC... | pathogenic | 198,354 |
Is the genetic change at chromosome 12, position 56004230, within gene SUOX (sulfite oxidase) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Inborn_genetic_diseases', 'SUOX-related_disorder', 'Sulfocysteinuria'] | TATCTTGATCCCAGAATCTTCCTTCTACAGGTCTGCTACAATGCTGCTGCTGCACAGAGCTGTGGTCCTCAGGCTCCAACAGGCCTGCAGGTAGGCCAGCCCATCCCAGGACTTGCCTCCTAGCCCCTATCTGCCACCCTTAGTGTCTTTTACAATGTCATACCTTGCAAATAAGACAGTTGAGAGAGTGTGTCCAGGGAGGACAGAGAAAGCCAGATCCCACTTTTCCCACCTATCCCTGGAGAAACTAAGTTCCAACTTAAGGAACCAATGGCCAACCAGGGAGAAAGAAGTAGACCCCAAGCCTTCACTAGCCCTTT... | TATCTTGATCCCAGAATCTTCCTTCTACAGGTCTGCTACAATGCTGCTGCTGCACAGAGCTGTGGTCCTCAGGCTCCAACAGGCCTGCAGGTAGGCCAGCCCATCCCAGGACTTGCCTCCTAGCCCCTATCTGCCACCCTTAGTGTCTTTTACAATGTCATACCTTGCAAATAAGACAGTTGAGAGAGTGTGTCCAGGGAGGACAGAGAAAGCCAGATCCCACTTTTCCCACCTATCCCTGGAGAAACTAAGTTCCAACTTAAGGAACCAATGGCCAACCAGGGAGAAAGAAGTAGACCCCAAGCCTTCACTAGCCCTTT... | pathogenic | 198,358 |
Variant in SUOX (sulfite oxidase), chromosome 12, position 56004699—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Sulfite_oxidase_deficiency'] | GGGATGGAGAGTCATGGGGACCCTATTAGGTCTCGGTGCAGTGTTGGCCTATCAGGACCATCGGTGTAGGGTAAGTAGGGAAAGTGCTTCATTGTCAGAACAGACTGGGTGCAGTGGCTCACGCCTGTTATCCCAGCACTATAGGAGGCCAAGGTGGGTGGGTCACTTGAGGTTAGGAGTTTGAGACCAGCCTGGGCAACATGGCAAAACCCCATCTCTAGTAAAAATTAGCCAGGTGTGGTGGTACATACCTGTAATCTCAGCTACTTGAGAGGCTGAGACACAAGAATCACTTAAACCCAGGAGGCTAAGTCTGCAGT... | GGGATGGAGAGTCATGGGGACCCTATTAGGTCTCGGTGCAGTGTTGGCCTATCAGGACCATCGGTGTAGGGTAAGTAGGGAAAGTGCTTCATTGTCAGAACAGACTGGGTGCAGTGGCTCACGCCTGTTATCCCAGCACTATAGGAGGCCAAGGTGGGTGGGTCACTTGAGGTTAGGAGTTTGAGACCAGCCTGGGCAACATGGCAAAACCCCATCTCTAGTAAAAATTAGCCAGGTGTGGTGGTACATACCTGTAATCTCAGCTACTTGAGAGGCTGAGACACAAGAATCACTTAAACCCAGGAGGCTAAGTCTGCAGT... | pathogenic | 198,367 |
Clinically, how would you classify the variant at chromosome 12, position 56042426, gene RPS26 (ribosomal protein S26): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Diamond-Blackfan_anemia', 'Diamond-Blackfan_anemia_10'] | CTGTACCATCCTGGGTCTGAATGCTAGGAGGTCCCCTTGCCACCCTAGTGTCTTCAACTTTGGAGACAACTGGGTGGTTGGCTGTGGACAGCCATTCCTGCCAGGCTGAAGCTTGCTTGCTTTTTTTTTTTTTTTTTTTGAGACAGAGTTTCGCTCTATTGCCCAGACTGTAGCACAGTAGCCCAATCTCAGCTCACTGCAACTTCTGCCTCCCGGGTGCAAGCAATTCTCCTGTCTCAGTCTCCCGAGTAGCTGGGATTACAGGTGTGCGCCACCAGGCCTAATTTTTATATTTTTAGTAGAGGTGGGGTGTCACTATG... | CTGTACCATCCTGGGTCTGAATGCTAGGAGGTCCCCTTGCCACCCTAGTGTCTTCAACTTTGGAGACAACTGGGTGGTTGGCTGTGGACAGCCATTCCTGCCAGGCTGAAGCTTGCTTGCTTTTTTTTTTTTTTTTTTTGAGACAGAGTTTCGCTCTATTGCCCAGACTGTAGCACAGTAGCCCAATCTCAGCTCACTGCAACTTCTGCCTCCCGGGTGCAAGCAATTCTCCTGTCTCAGTCTCCCGAGTAGCTGGGATTACAGGTGTGCGCCACCAGGCCTAATTTTTATATTTTTAGTAGAGGTGGGGTGTCACTATG... | pathogenic | 198,389 |
Is the genetic mutation found on chromosome 12 at position 56042490, within the gene RPS26 (ribosomal protein S26), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Diamond-Blackfan_anemia', 'Diamond-Blackfan_anemia_10'] | GACAACTGGGTGGTTGGCTGTGGACAGCCATTCCTGCCAGGCTGAAGCTTGCTTGCTTTTTTTTTTTTTTTTTTTGAGACAGAGTTTCGCTCTATTGCCCAGACTGTAGCACAGTAGCCCAATCTCAGCTCACTGCAACTTCTGCCTCCCGGGTGCAAGCAATTCTCCTGTCTCAGTCTCCCGAGTAGCTGGGATTACAGGTGTGCGCCACCAGGCCTAATTTTTATATTTTTAGTAGAGGTGGGGTGTCACTATGTTGACTAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCTGCCTTGGCCTCCCAAAGTGT... | GACAACTGGGTGGTTGGCTGTGGACAGCCATTCCTGCCAGGCTGAAGCTTGCTTGCTTTTTTTTTTTTTTTTTTTGAGACAGAGTTTCGCTCTATTGCCCAGACTGTAGCACAGTAGCCCAATCTCAGCTCACTGCAACTTCTGCCTCCCGGGTGCAAGCAATTCTCCTGTCTCAGTCTCCCGAGTAGCTGGGATTACAGGTGTGCGCCACCAGGCCTAATTTTTATATTTTTAGTAGAGGTGGGGTGTCACTATGTTGACTAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCTGCCTTGGCCTCCCAAAGTGT... | pathogenic | 198,392 |
Is the genetic mutation found on chromosome 12 at position 56043400, within the gene RPS26 (ribosomal protein S26), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Diamond-Blackfan_anemia_10'] | ACAGGCGCCCACCACCAGGCCGGGCTAAATTCTTCAATCTTTAAAGTGAGGATAATAATAGTAGCTACCTATAGGCTTGCTCAAAGTTAAATGAGTTAATATTTATAAAGACGCTTACCACAGGGCCAGGCACTGTGCCAGAGATAAAAAGATGAATGAGAAATAGCCCCAGCCTCAATGCACTTCATTGTGGGATTTTCTCCATATTGGAAGGAGGGATTCACAAAATGCTTGTTTCCTCTCAGGCCTTCCTCTTCGTAATCCTACACCTACCTAGTAGAAGGACTGTCAGAGAAATGAGCCCAGGGCGTCCCCCGGTG... | ACAGGCGCCCACCACCAGGCCGGGCTAAATTCTTCAATCTTTAAAGTGAGGATAATAATAGTAGCTACCTATAGGCTTGCTCAAAGTTAAATGAGTTAATATTTATAAAGACGCTTACCACAGGGCCAGGCACTGTGCCAGAGATAAAAAGATGAATGAGAAATAGCCCCAGCCTCAATGCACTTCATTGTGGGATTTTCTCCATATTGGAAGGAGGGATTCACAAAATGCTTGTTTCCTCTCAGGCCTTCCTCTTCGTAATCCTACACCTACCTAGTAGAAGGACTGTCAGAGAAATGAGCCCAGGGCGTCCCCCGGTG... | pathogenic | 198,399 |
Does the variant impacting SMARCC2 (SWI/SNF related BAF chromatin remodeling complex subunit C2) on chromosome 12, position 56185102, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Neurodevelopmental_delay'] | GGTCTCAAACTCCTGGGCTCAAGCAATCTGCCCACCTCAGCCTCCCCAAGTGCTGGGATTATAGGCATTAGCCACTGCACCCAGCCTACGTGCTATTTTTTGTTTTGTTTTGTTTTGTTGAGACAGAGTCTCGCTCTGTCGCCCAGGCTAGAGTGCAGTGGTGTGATCTTGGCTCACTGCAACCTCTGCTGCCCCGGTTCAAGCGATTATCCTGCTTCTCAGCCTCCTAAGTAGCTAAAACTACAGGCGTGTGCCACCACGCCCTGCTAATTTTTTTTTTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCAGCATGTTG... | GGTCTCAAACTCCTGGGCTCAAGCAATCTGCCCACCTCAGCCTCCCCAAGTGCTGGGATTATAGGCATTAGCCACTGCACCCAGCCTACGTGCTATTTTTTGTTTTGTTTTGTTTTGTTGAGACAGAGTCTCGCTCTGTCGCCCAGGCTAGAGTGCAGTGGTGTGATCTTGGCTCACTGCAACCTCTGCTGCCCCGGTTCAAGCGATTATCCTGCTTCTCAGCCTCCTAAGTAGCTAAAACTACAGGCGTGTGCCACCACGCCCTGCTAATTTTTTTTTTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCAGCATGTTG... | pathogenic | 198,457 |
Variant chromosome 12, position 56451131, gene MIP (major intrinsic protein of lens fiber): benign or pathogenic? Disease(s)? | benign | CGGAGCAGCGTAGGGCTAAGCCCGCGTCCGGTGAGACCCGGGAACGCGGCGCGGGAGACTAAGGAGCAGAGTACAGAATTGCGCGTGCGCGCCTGCAGCACGAGCCCCGCCCCCTGGCTCTAAACCGGGTGGCGGGAAAAGGGACTCAGCGTTTCCCGAGAATGCCCCCATAGCTTCGAAAGGATCCCCGTGTCCGCTTAGCGCCCTCTCGCCACACACTCACTCACCCGCTCCCTGCGGGTCCTCAGAAGCCCGGAGGAGCCACCGGCCCTCTGGCGCGGGGCCGCAGCCTTTCCGCCACCAGGCTCAGCTGGACCGGT... | CGGAGCAGCGTAGGGCTAAGCCCGCGTCCGGTGAGACCCGGGAACGCGGCGCGGGAGACTAAGGAGCAGAGTACAGAATTGCGCGTGCGCGCCTGCAGCACGAGCCCCGCCCCCTGGCTCTAAACCGGGTGGCGGGAAAAGGGACTCAGCGTTTCCCGAGAATGCCCCCATAGCTTCGAAAGGATCCCCGTGTCCGCTTAGCGCCCTCTCGCCACACACTCACTCACCCGCTCCCTGCGGGTCCTCAGAAGCCCGGAGGAGCCACCGGCCCTCTGGCGCGGGGCCGCAGCCTTTCCGCCACCAGGCTCAGCTGGACCGGT... | benign | 198,507 |
Does the variant on chromosome 12 at location 56451433 affecting gene MIP (major intrinsic protein of lens fiber) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Cataract_15_multiple_types', 'Inborn_genetic_diseases', 'MIP-related_disorder'] | AGGCTCAGCTGGACCGGTCCCCGCCTGCGCGAAGAGCGAGGCGGGGCGAGCCGGGCTGGTCCACGTGACTCCGAGCGAACTGGGGCGGAGATTGGTGAAGAAGGAAGGAAAAGGGAAGCGAGTGCAGGGACTGTTTTATGTGAGGTCGATCTAAAAATCACAGCGCTATGAATTTTCTGCTGAATTATAGTAGAATCAAAGTCCGATTAGAGGTGAATTTACAAACATTCTTCCCCTTCTTCTAGTCAAGCGGACTATTCCAAGTCTTAAATAGTTAGTTAGAAAAGTTAGGTTTTATTTGGGAGGAAGTAAAGAGCTGA... | AGGCTCAGCTGGACCGGTCCCCGCCTGCGCGAAGAGCGAGGCGGGGCGAGCCGGGCTGGTCCACGTGACTCCGAGCGAACTGGGGCGGAGATTGGTGAAGAAGGAAGGAAAAGGGAAGCGAGTGCAGGGACTGTTTTATGTGAGGTCGATCTAAAAATCACAGCGCTATGAATTTTCTGCTGAATTATAGTAGAATCAAAGTCCGATTAGAGGTGAATTTACAAACATTCTTCCCCTTCTTCTAGTCAAGCGGACTATTCCAAGTCTTAAATAGTTAGTTAGAAAAGTTAGGTTTTATTTGGGAGGAAGTAAAGAGCTGA... | pathogenic | 198,509 |
A genetic variant at chromosome 12, position 56930421, affecting gene SDR9C7 (short chain dehydrogenase/reductase family 9C member 7)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Ichthyosis,_congenital,_autosomal_recessive_13', 'Lamellar_ichthyosis'] | CCTTCACCATAGTCTGAATTGGGACCGCAACTTCCTGCTCCATTCTTCTTTCACAACCCTGTTTCTCCTCTGTAGCACTTATCCACATCTACCATAAACACATGTGTTTTGATTTATGTTTGTCTCCCCTACTGGGCCATAAGCTACAGGCAGTGAAGGGCAGGCATACTGCTGTGTCCGCTCCAGCTCTCCAGCCCCACACAGGCTTGGGACATGGCAGCCTTGCATGCTTTGTATTACTGATTCAAAACAAAAACAAAAAACAAAAATGCAATAAAGTGTGTATGTATTAAGTGAAAAAAATGGCTGACTTGGCTTTG... | CCTTCACCATAGTCTGAATTGGGACCGCAACTTCCTGCTCCATTCTTCTTTCACAACCCTGTTTCTCCTCTGTAGCACTTATCCACATCTACCATAAACACATGTGTTTTGATTTATGTTTGTCTCCCCTACTGGGCCATAAGCTACAGGCAGTGAAGGGCAGGCATACTGCTGTGTCCGCTCCAGCTCTCCAGCCCCACACAGGCTTGGGACATGGCAGCCTTGCATGCTTTGTATTACTGATTCAAAACAAAAACAAAAAACAAAAATGCAATAAAGTGTGTATGTATTAAGTGAAAAAAATGGCTGACTTGGCTTTG... | pathogenic | 198,537 |
Gene STAC3 (SH3 and cysteine rich domain 3) variant at chromosome position 57244355 on chromosome 12: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Bailey-Bloch_congenital_myopathy'] | GGGGGTCTTCTTTAATGACTCCGCCCCCACCCCCTCAGGCATCCGGGACCGTCAAGGGCAAAGGGAACAGAAAACTGAACCCGGTTCTGCAGAGTCTTCTTGTGTGCTTCCCTACCCCCATCACACCTCAGCCTTCTGGAAGGGGGGCGCGCCCGTCCCAGGCCTCCTCTTCCCCAGCCCAGCTGAGCCTCTGCCCTCCCCCCGCCAGCAGCAGATGGTGCCCGGGCTCCCGCTGCCAACCTTGCTAGGCGGTGCCAACCTCGGTCCTGGCAGACAACGGGCAGACGAGAAGAGGAGCTCCTGGCTGGCCAAGCCGACCC... | GGGGGTCTTCTTTAATGACTCCGCCCCCACCCCCTCAGGCATCCGGGACCGTCAAGGGCAAAGGGAACAGAAAACTGAACCCGGTTCTGCAGAGTCTTCTTGTGTGCTTCCCTACCCCCATCACACCTCAGCCTTCTGGAAGGGGGGCGCGCCCGTCCCAGGCCTCCTCTTCCCCAGCCCAGCTGAGCCTCTGCCCTCCCCCCGCCAGCAGCAGATGGTGCCCGGGCTCCCGCTGCCAACCTTGCTAGGCGGTGCCAACCTCGGTCCTGGCAGACAACGGGCAGACGAGAAGAGGAGCTCCTGGCTGGCCAAGCCGACCC... | pathogenic | 198,697 |
Does the variant impacting STAC3 (SH3 and cysteine rich domain 3) on chromosome 12, position 57249535, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | benign | ACAGTGGCACAATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCTCCGAGTAGCTGGGACTACAGGCGCCTGCCACCACGCCCGGCTAATTTTTGTGTGTTTTTAGTAGAGACGGGGTTTCACCGTGGTCTCGATCTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAAACGTGAGCCACCGCGCCCGGCCTGGGTTGCCAAATTATGAACCTGCCCAGGGTGCCTGCAGCCTTTGGGTCTTGCCCCGAGTCTGATATGACTCTGTAGTAAGGAT... | ACAGTGGCACAATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCTCCGAGTAGCTGGGACTACAGGCGCCTGCCACCACGCCCGGCTAATTTTTGTGTGTTTTTAGTAGAGACGGGGTTTCACCGTGGTCTCGATCTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAAACGTGAGCCACCGCGCCCGGCCTGGGTTGCCAAATTATGAACCTGCCCAGGGTGCCTGCAGCCTTTGGGTCTTGCCCCGAGTCTGATATGACTCTGTAGTAAGGAT... | benign | 198,707 |
Does the genetic variant at chromosome 12, position 57564440, impacting gene KIF5A (kinesin family member 5A), appear benign or pathogenic? If pathogenic, name the associated disease(s). | benign | TTTTAGTAGAGATGGGGTTTCAGCATGTTGGCCAGGCTGGTCTCGAACTCCTCACCTCAGGTGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCGTGCCCGACCCACAGTTCTTCTTTAATTAAAGCTTGTTCTGTTCTTAAAGGGAGACCCACATATCTGATTTCATATATTCCTTTCACAAAGAGAGAGAGCTTGTGTTAATGTTTCCACAGAGGCTCTCAGTGTAGACTGAATTTCATTTACATGGTAGGGAACATGCTATAAATATATGTCACTAACTTTGCATCTTTCACTTAGT... | TTTTAGTAGAGATGGGGTTTCAGCATGTTGGCCAGGCTGGTCTCGAACTCCTCACCTCAGGTGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCGTGCCCGACCCACAGTTCTTCTTTAATTAAAGCTTGTTCTGTTCTTAAAGGGAGACCCACATATCTGATTTCATATATTCCTTTCACAAAGAGAGAGAGCTTGTGTTAATGTTTCCACAGAGGCTCTCAGTGTAGACTGAATTTCATTTACATGGTAGGGAACATGCTATAAATATATGTCACTAACTTTGCATCTTTCACTTAGT... | benign | 198,814 |
Is the variant located on chromosome 12 at position 57631319, gene B4GALNT1 (beta-1,4-N-acetyl-galactosaminyltransferase 1), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Hereditary_spastic_paraplegia_26', 'Inborn_genetic_diseases', 'Spastic_paraplegia'] | GTTCTTACCTTTATGGAACTTACATTCTAATGGGTAGGAGAAAAAACAACAAAGAAAATTTTAAGTAAAAGCTAATCTTTATTGAGCACTTACTATGTGCCAGACCCGTTAAAAAATTACCTTAAATATATGCACTCATTTTATCCCCATGATAGCCCTATTAAGTAGATTCCTACAACAGAAAAAAAAGCTGAGACACAGAAAAGTAACTTGCCACATTTACACAACTATTAAGCAACAAAACTGATAGCAACCTAGTCAGTCTGGTGCCAGGCTAAGTAAATTAAAAAATTCAGATACTGGTAAGTATTGAGTGGAAA... | GTTCTTACCTTTATGGAACTTACATTCTAATGGGTAGGAGAAAAAACAACAAAGAAAATTTTAAGTAAAAGCTAATCTTTATTGAGCACTTACTATGTGCCAGACCCGTTAAAAAATTACCTTAAATATATGCACTCATTTTATCCCCATGATAGCCCTATTAAGTAGATTCCTACAACAGAAAAAAAAGCTGAGACACAGAAAAGTAACTTGCCACATTTACACAACTATTAAGCAACAAAACTGATAGCAACCTAGTCAGTCTGGTGCCAGGCTAAGTAAATTAAAAAATTCAGATACTGGTAAGTATTGAGTGGAAA... | pathogenic | 198,939 |
Regarding the variant found on chromosome 12 at position 57631993 in gene B4GALNT1 (beta-1,4-N-acetyl-galactosaminyltransferase 1): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Spastic_paraplegia'] | TCCCTCTGGCCTGCTCCAGCCCCAGATGAACAAAGGCCCCCTTTCTCCCTCTGGCCCTGCTGGTCCAGTTGAAGCACCCATTGTGTGGCTGGACAGCTCTGGCCATAGCCCAGATGCCTCCCATGCCCTCTGCCATTTGCCCACTCCAGCCTTTCTGGTTCTTCTCTGTTTGCCCAGCCTGCCCGTCTCTCCACCCAGGCCTTGCACCTGTGTCTGCTGTGTTGGTCTGGTAGCTTCGGCTGCTGTAAGTGACCAGTTGTAGTTGCCTGTTGAGTTGGTCCAGCCCTGGGCTGACAAGGGTGAGATCTGCCTGACCCTCT... | TCCCTCTGGCCTGCTCCAGCCCCAGATGAACAAAGGCCCCCTTTCTCCCTCTGGCCCTGCTGGTCCAGTTGAAGCACCCATTGTGTGGCTGGACAGCTCTGGCCATAGCCCAGATGCCTCCCATGCCCTCTGCCATTTGCCCACTCCAGCCTTTCTGGTTCTTCTCTGTTTGCCCAGCCTGCCCGTCTCTCCACCCAGGCCTTGCACCTGTGTCTGCTGTGTTGGTCTGGTAGCTTCGGCTGCTGTAAGTGACCAGTTGTAGTTGCCTGTTGAGTTGGTCCAGCCCTGGGCTGACAAGGGTGAGATCTGCCTGACCCTCT... | pathogenic | 198,942 |
Is the genetic variant on chromosome 12, position 57748623, gene CDK4, benign or pathogenic? If pathogenic, what disease(s) is indicated? | benign | CCCATATCTTTCAGACAGATGTCATCAATGCTTCTTGGTGGGTCATGAGCAACAAGACTCGGGATGAACTGGAAAGAAGTTTTGATTGTTGTGGCTTATTCAACCTCACAACCCTGTATCAACAAGATTATGATTTCTGCACTGCAGTGAGTGTGTTGGGGGTGGTGCAGCAGCCAGGGGAGGTAGGAAACTGGGTAAGGACAATGCCCAAGTTGGCAAATTTAGTTTGAATGTCATTGTTTCTCTCTCTACAAGCCCTCTTGTATTGGGGCTGTGTTGGTGGGAGGTGGGGGTGGATAGAGGCTGGGGAATTAGCCAAG... | CCCATATCTTTCAGACAGATGTCATCAATGCTTCTTGGTGGGTCATGAGCAACAAGACTCGGGATGAACTGGAAAGAAGTTTTGATTGTTGTGGCTTATTCAACCTCACAACCCTGTATCAACAAGATTATGATTTCTGCACTGCAGTGAGTGTGTTGGGGGTGGTGCAGCAGCCAGGGGAGGTAGGAAACTGGGTAAGGACAATGCCCAAGTTGGCAAATTTAGTTTGAATGTCATTGTTTCTCTCTCTACAAGCCCTCTTGTATTGGGGCTGTGTTGGTGGGAGGTGGGGGTGGATAGAGGCTGGGGAATTAGCCAAG... | benign | 198,973 |
Is the genetic variant on chromosome 12, position 57749141, gene CDK4, benign or pathogenic? If pathogenic, what disease(s) is indicated? | benign | ATCCTAGGGGGTGTTGGACTCTTCTTTAGCTTTACAGAGGTAACATTCTCCAGTTCCCTCACACACATCCTTTTTGAGACTGAGAATTAATTGATACTTATCTCTCTCCCTTTGTTCCTACAGATCCTTGGTGTTTGGCTAGCAATGAGATTTCGGAATCAGAAGGATCCTAGAGCCAACCCCAGTGCCTTTCTATGAGACTTTGGATCCTTCTGACTTTTCTTCTGCTCTCTCTAAGCTTTCTCTTCCTCCCTTAGGGAATATCTAGGGTCTGTAACCGTTTTGGTTTGAGAAAAAGGAAAGGCCCCTTGTCACATCCT... | ATCCTAGGGGGTGTTGGACTCTTCTTTAGCTTTACAGAGGTAACATTCTCCAGTTCCCTCACACACATCCTTTTTGAGACTGAGAATTAATTGATACTTATCTCTCTCCCTTTGTTCCTACAGATCCTTGGTGTTTGGCTAGCAATGAGATTTCGGAATCAGAAGGATCCTAGAGCCAACCCCAGTGCCTTTCTATGAGACTTTGGATCCTTCTGACTTTTCTTCTGCTCTCTCTAAGCTTTCTCTTCCTCCCTTAGGGAATATCTAGGGTCTGTAACCGTTTTGGTTTGAGAAAAAGGAAAGGCCCCTTGTCACATCCT... | benign | 198,981 |
Gene CDK4 variant at chromosome position 57749321 on chromosome 12: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | benign | CCCAGTGCCTTTCTATGAGACTTTGGATCCTTCTGACTTTTCTTCTGCTCTCTCTAAGCTTTCTCTTCCTCCCTTAGGGAATATCTAGGGTCTGTAACCGTTTTGGTTTGAGAAAAAGGAAAGGCCCCTTGTCACATCCTCTAAAATTGATGGAATAGCAAGACTTTATGCCTTGACATATTTTAGTGGGAGCCAGACTATAAGGAATAAAAGGAAAAACTTTCTTCCTCTCTCTCCAAGAGGATATGGGAAGCTTCTGTGAGTGCATAGGATGGGGGCTGGAGTCATTCTTAGCTGTTTCCCTTCCTCTGTCCATATAC... | CCCAGTGCCTTTCTATGAGACTTTGGATCCTTCTGACTTTTCTTCTGCTCTCTCTAAGCTTTCTCTTCCTCCCTTAGGGAATATCTAGGGTCTGTAACCGTTTTGGTTTGAGAAAAAGGAAAGGCCCCTTGTCACATCCTCTAAAATTGATGGAATAGCAAGACTTTATGCCTTGACATATTTTAGTGGGAGCCAGACTATAAGGAATAAAAGGAAAAACTTTCTTCCTCTCTCTCCAAGAGGATATGGGAAGCTTCTGTGAGTGCATAGGATGGGGGCTGGAGTCATTCTTAGCTGTTTCCCTTCCTCTGTCCATATAC... | benign | 199,016 |
Variant at chromosome 12, position 57749326, gene CDK4: clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | benign | TGCCTTTCTATGAGACTTTGGATCCTTCTGACTTTTCTTCTGCTCTCTCTAAGCTTTCTCTTCCTCCCTTAGGGAATATCTAGGGTCTGTAACCGTTTTGGTTTGAGAAAAAGGAAAGGCCCCTTGTCACATCCTCTAAAATTGATGGAATAGCAAGACTTTATGCCTTGACATATTTTAGTGGGAGCCAGACTATAAGGAATAAAAGGAAAAACTTTCTTCCTCTCTCTCCAAGAGGATATGGGAAGCTTCTGTGAGTGCATAGGATGGGGGCTGGAGTCATTCTTAGCTGTTTCCCTTCCTCTGTCCATATACTGGAT... | TGCCTTTCTATGAGACTTTGGATCCTTCTGACTTTTCTTCTGCTCTCTCTAAGCTTTCTCTTCCTCCCTTAGGGAATATCTAGGGTCTGTAACCGTTTTGGTTTGAGAAAAAGGAAAGGCCCCTTGTCACATCCTCTAAAATTGATGGAATAGCAAGACTTTATGCCTTGACATATTTTAGTGGGAGCCAGACTATAAGGAATAAAAGGAAAAACTTTCTTCCTCTCTCTCCAAGAGGATATGGGAAGCTTCTGTGAGTGCATAGGATGGGGGCTGGAGTCATTCTTAGCTGTTTCCCTTCCTCTGTCCATATACTGGAT... | benign | 199,020 |
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