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 variant on chromosome 9 at location 127818148 affecting gene ENG have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_hemorrhagic_telangiectasia'] | ATCCCCTACCCTGTTGTGCTGGCCCATGTGGGCTTTGGTGCCAGCTCTGCTCAGCCATGGACCCTCGACTTCTCTGAACCTCAGTCTCCTCTTGCAGCAAACGGGCTCATCACAGCCAGGCCTGGCATTGAGCCATGGTTGCTAGGACTGTCCACCTAGAGGGCCCAGCCAGGCCTTTTGGGTCATGCCTCTGCCCCTCAAGGCTGATGGAGATGGCGTTTTCAGGGAGGATGGATGGGGTAACGTGAGGAAACTGAGGCTCGGGAGTACAGAGCCTGCCCCACCTGCTGCATGACCTTGGGTCAACCCTGCCCCTCTCT... | ATCCCCTACCCTGTTGTGCTGGCCCATGTGGGCTTTGGTGCCAGCTCTGCTCAGCCATGGACCCTCGACTTCTCTGAACCTCAGTCTCCTCTTGCAGCAAACGGGCTCATCACAGCCAGGCCTGGCATTGAGCCATGGTTGCTAGGACTGTCCACCTAGAGGGCCCAGCCAGGCCTTTTGGGTCATGCCTCTGCCCCTCAAGGCTGATGGAGATGGCGTTTTCAGGGAGGATGGATGGGGTAACGTGAGGAAACTGAGGCTCGGGAGTACAGAGCCTGCCCCACCTGCTGCATGACCTTGGGTCAACCCTGCCCCTCTCT... | pathogenic | 150,467 |
Variant at chromosome position 127818179, chromosome 9, gene ENG: benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_hemorrhagic_telangiectasia'] | GCTTTGGTGCCAGCTCTGCTCAGCCATGGACCCTCGACTTCTCTGAACCTCAGTCTCCTCTTGCAGCAAACGGGCTCATCACAGCCAGGCCTGGCATTGAGCCATGGTTGCTAGGACTGTCCACCTAGAGGGCCCAGCCAGGCCTTTTGGGTCATGCCTCTGCCCCTCAAGGCTGATGGAGATGGCGTTTTCAGGGAGGATGGATGGGGTAACGTGAGGAAACTGAGGCTCGGGAGTACAGAGCCTGCCCCACCTGCTGCATGACCTTGGGTCAACCCTGCCCCTCTCTGAGGCCTTTAGCAGGTAGAGAATGGGCCAGA... | GCTTTGGTGCCAGCTCTGCTCAGCCATGGACCCTCGACTTCTCTGAACCTCAGTCTCCTCTTGCAGCAAACGGGCTCATCACAGCCAGGCCTGGCATTGAGCCATGGTTGCTAGGACTGTCCACCTAGAGGGCCCAGCCAGGCCTTTTGGGTCATGCCTCTGCCCCTCAAGGCTGATGGAGATGGCGTTTTCAGGGAGGATGGATGGGGTAACGTGAGGAAACTGAGGCTCGGGAGTACAGAGCCTGCCCCACCTGCTGCATGACCTTGGGTCAACCCTGCCCCTCTCTGAGGCCTTTAGCAGGTAGAGAATGGGCCAGA... | pathogenic | 150,473 |
Is the chromosome 9, position 127818250 variant in ENG clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_hemorrhagic_telangiectasia'] | GGGCTCATCACAGCCAGGCCTGGCATTGAGCCATGGTTGCTAGGACTGTCCACCTAGAGGGCCCAGCCAGGCCTTTTGGGTCATGCCTCTGCCCCTCAAGGCTGATGGAGATGGCGTTTTCAGGGAGGATGGATGGGGTAACGTGAGGAAACTGAGGCTCGGGAGTACAGAGCCTGCCCCACCTGCTGCATGACCTTGGGTCAACCCTGCCCCTCTCTGAGGCCTTTAGCAGGTAGAGAATGGGCCAGAGCAGCTCCGAGTGCCCTGCAGCTCTGCTCTTGGATTGCTCCAAGCCTCATTCCCTCCACATTCCTGACTCC... | GGGCTCATCACAGCCAGGCCTGGCATTGAGCCATGGTTGCTAGGACTGTCCACCTAGAGGGCCCAGCCAGGCCTTTTGGGTCATGCCTCTGCCCCTCAAGGCTGATGGAGATGGCGTTTTCAGGGAGGATGGATGGGGTAACGTGAGGAAACTGAGGCTCGGGAGTACAGAGCCTGCCCCACCTGCTGCATGACCTTGGGTCAACCCTGCCCCTCTCTGAGGCCTTTAGCAGGTAGAGAATGGGCCAGAGCAGCTCCGAGTGCCCTGCAGCTCTGCTCTTGGATTGCTCCAAGCCTCATTCCCTCCACATTCCTGACTCC... | pathogenic | 150,478 |
Determine if the mutation at chromosome 9, position 127818251 in gene ENG is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Hereditary_hemorrhagic_telangiectasia', 'Telangiectasia,_hereditary_hemorrhagic,_type_1'] | GGCTCATCACAGCCAGGCCTGGCATTGAGCCATGGTTGCTAGGACTGTCCACCTAGAGGGCCCAGCCAGGCCTTTTGGGTCATGCCTCTGCCCCTCAAGGCTGATGGAGATGGCGTTTTCAGGGAGGATGGATGGGGTAACGTGAGGAAACTGAGGCTCGGGAGTACAGAGCCTGCCCCACCTGCTGCATGACCTTGGGTCAACCCTGCCCCTCTCTGAGGCCTTTAGCAGGTAGAGAATGGGCCAGAGCAGCTCCGAGTGCCCTGCAGCTCTGCTCTTGGATTGCTCCAAGCCTCATTCCCTCCACATTCCTGACTCCT... | GGCTCATCACAGCCAGGCCTGGCATTGAGCCATGGTTGCTAGGACTGTCCACCTAGAGGGCCCAGCCAGGCCTTTTGGGTCATGCCTCTGCCCCTCAAGGCTGATGGAGATGGCGTTTTCAGGGAGGATGGATGGGGTAACGTGAGGAAACTGAGGCTCGGGAGTACAGAGCCTGCCCCACCTGCTGCATGACCTTGGGTCAACCCTGCCCCTCTCTGAGGCCTTTAGCAGGTAGAGAATGGGCCAGAGCAGCTCCGAGTGCCCTGCAGCTCTGCTCTTGGATTGCTCCAAGCCTCATTCCCTCCACATTCCTGACTCCT... | pathogenic | 150,479 |
Is chromosome 9, position 127818254, gene ENG variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Hereditary_hemorrhagic_telangiectasia'] | TCATCACAGCCAGGCCTGGCATTGAGCCATGGTTGCTAGGACTGTCCACCTAGAGGGCCCAGCCAGGCCTTTTGGGTCATGCCTCTGCCCCTCAAGGCTGATGGAGATGGCGTTTTCAGGGAGGATGGATGGGGTAACGTGAGGAAACTGAGGCTCGGGAGTACAGAGCCTGCCCCACCTGCTGCATGACCTTGGGTCAACCCTGCCCCTCTCTGAGGCCTTTAGCAGGTAGAGAATGGGCCAGAGCAGCTCCGAGTGCCCTGCAGCTCTGCTCTTGGATTGCTCCAAGCCTCATTCCCTCCACATTCCTGACTCCTGTG... | TCATCACAGCCAGGCCTGGCATTGAGCCATGGTTGCTAGGACTGTCCACCTAGAGGGCCCAGCCAGGCCTTTTGGGTCATGCCTCTGCCCCTCAAGGCTGATGGAGATGGCGTTTTCAGGGAGGATGGATGGGGTAACGTGAGGAAACTGAGGCTCGGGAGTACAGAGCCTGCCCCACCTGCTGCATGACCTTGGGTCAACCCTGCCCCTCTCTGAGGCCTTTAGCAGGTAGAGAATGGGCCAGAGCAGCTCCGAGTGCCCTGCAGCTCTGCTCTTGGATTGCTCCAAGCCTCATTCCCTCCACATTCCTGACTCCTGTG... | pathogenic | 150,480 |
Variant at chromosome 9, position 127818264, gene ENG: clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_hemorrhagic_telangiectasia', 'likely other unspecified diseases'] | CAGGCCTGGCATTGAGCCATGGTTGCTAGGACTGTCCACCTAGAGGGCCCAGCCAGGCCTTTTGGGTCATGCCTCTGCCCCTCAAGGCTGATGGAGATGGCGTTTTCAGGGAGGATGGATGGGGTAACGTGAGGAAACTGAGGCTCGGGAGTACAGAGCCTGCCCCACCTGCTGCATGACCTTGGGTCAACCCTGCCCCTCTCTGAGGCCTTTAGCAGGTAGAGAATGGGCCAGAGCAGCTCCGAGTGCCCTGCAGCTCTGCTCTTGGATTGCTCCAAGCCTCATTCCCTCCACATTCCTGACTCCTGTGTGGCTATGGG... | CAGGCCTGGCATTGAGCCATGGTTGCTAGGACTGTCCACCTAGAGGGCCCAGCCAGGCCTTTTGGGTCATGCCTCTGCCCCTCAAGGCTGATGGAGATGGCGTTTTCAGGGAGGATGGATGGGGTAACGTGAGGAAACTGAGGCTCGGGAGTACAGAGCCTGCCCCACCTGCTGCATGACCTTGGGTCAACCCTGCCCCTCTCTGAGGCCTTTAGCAGGTAGAGAATGGGCCAGAGCAGCTCCGAGTGCCCTGCAGCTCTGCTCTTGGATTGCTCCAAGCCTCATTCCCTCCACATTCCTGACTCCTGTGTGGCTATGGG... | pathogenic | 150,481 |
Evaluate if the mutation on chromosome 9 at position 127818296 in ENG is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_hemorrhagic_telangiectasia'] | TGTCCACCTAGAGGGCCCAGCCAGGCCTTTTGGGTCATGCCTCTGCCCCTCAAGGCTGATGGAGATGGCGTTTTCAGGGAGGATGGATGGGGTAACGTGAGGAAACTGAGGCTCGGGAGTACAGAGCCTGCCCCACCTGCTGCATGACCTTGGGTCAACCCTGCCCCTCTCTGAGGCCTTTAGCAGGTAGAGAATGGGCCAGAGCAGCTCCGAGTGCCCTGCAGCTCTGCTCTTGGATTGCTCCAAGCCTCATTCCCTCCACATTCCTGACTCCTGTGTGGCTATGGGCCAAGCAGTCTTTCCTTGAGCCTCTGACATCC... | TGTCCACCTAGAGGGCCCAGCCAGGCCTTTTGGGTCATGCCTCTGCCCCTCAAGGCTGATGGAGATGGCGTTTTCAGGGAGGATGGATGGGGTAACGTGAGGAAACTGAGGCTCGGGAGTACAGAGCCTGCCCCACCTGCTGCATGACCTTGGGTCAACCCTGCCCCTCTCTGAGGCCTTTAGCAGGTAGAGAATGGGCCAGAGCAGCTCCGAGTGCCCTGCAGCTCTGCTCTTGGATTGCTCCAAGCCTCATTCCCTCCACATTCCTGACTCCTGTGTGGCTATGGGCCAAGCAGTCTTTCCTTGAGCCTCTGACATCC... | pathogenic | 150,488 |
A mutation at chromosome position 127818320 on chromosome 9 in gene ENG: benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_hemorrhagic_telangiectasia'] | GCCTTTTGGGTCATGCCTCTGCCCCTCAAGGCTGATGGAGATGGCGTTTTCAGGGAGGATGGATGGGGTAACGTGAGGAAACTGAGGCTCGGGAGTACAGAGCCTGCCCCACCTGCTGCATGACCTTGGGTCAACCCTGCCCCTCTCTGAGGCCTTTAGCAGGTAGAGAATGGGCCAGAGCAGCTCCGAGTGCCCTGCAGCTCTGCTCTTGGATTGCTCCAAGCCTCATTCCCTCCACATTCCTGACTCCTGTGTGGCTATGGGCCAAGCAGTCTTTCCTTGAGCCTCTGACATCCGATTCTGTGTCATGGGGTTATCAG... | GCCTTTTGGGTCATGCCTCTGCCCCTCAAGGCTGATGGAGATGGCGTTTTCAGGGAGGATGGATGGGGTAACGTGAGGAAACTGAGGCTCGGGAGTACAGAGCCTGCCCCACCTGCTGCATGACCTTGGGTCAACCCTGCCCCTCTCTGAGGCCTTTAGCAGGTAGAGAATGGGCCAGAGCAGCTCCGAGTGCCCTGCAGCTCTGCTCTTGGATTGCTCCAAGCCTCATTCCCTCCACATTCCTGACTCCTGTGTGGCTATGGGCCAAGCAGTCTTTCCTTGAGCCTCTGACATCCGATTCTGTGTCATGGGGTTATCAG... | pathogenic | 150,492 |
Chromosome 9, position 127818330, gene ENG: Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_hemorrhagic_telangiectasia', 'Telangiectasia,_hereditary_hemorrhagic,_type_1'] | TCATGCCTCTGCCCCTCAAGGCTGATGGAGATGGCGTTTTCAGGGAGGATGGATGGGGTAACGTGAGGAAACTGAGGCTCGGGAGTACAGAGCCTGCCCCACCTGCTGCATGACCTTGGGTCAACCCTGCCCCTCTCTGAGGCCTTTAGCAGGTAGAGAATGGGCCAGAGCAGCTCCGAGTGCCCTGCAGCTCTGCTCTTGGATTGCTCCAAGCCTCATTCCCTCCACATTCCTGACTCCTGTGTGGCTATGGGCCAAGCAGTCTTTCCTTGAGCCTCTGACATCCGATTCTGTGTCATGGGGTTATCAGCCCTGCCTTC... | TCATGCCTCTGCCCCTCAAGGCTGATGGAGATGGCGTTTTCAGGGAGGATGGATGGGGTAACGTGAGGAAACTGAGGCTCGGGAGTACAGAGCCTGCCCCACCTGCTGCATGACCTTGGGTCAACCCTGCCCCTCTCTGAGGCCTTTAGCAGGTAGAGAATGGGCCAGAGCAGCTCCGAGTGCCCTGCAGCTCTGCTCTTGGATTGCTCCAAGCCTCATTCCCTCCACATTCCTGACTCCTGTGTGGCTATGGGCCAAGCAGTCTTTCCTTGAGCCTCTGACATCCGATTCTGTGTCATGGGGTTATCAGCCCTGCCTTC... | pathogenic | 150,493 |
The chromosome 9, position 127818335 genetic variant in gene ENG: benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_hemorrhagic_telangiectasia', 'Telangiectasia,_hereditary_hemorrhagic,_type_1'] | CCTCTGCCCCTCAAGGCTGATGGAGATGGCGTTTTCAGGGAGGATGGATGGGGTAACGTGAGGAAACTGAGGCTCGGGAGTACAGAGCCTGCCCCACCTGCTGCATGACCTTGGGTCAACCCTGCCCCTCTCTGAGGCCTTTAGCAGGTAGAGAATGGGCCAGAGCAGCTCCGAGTGCCCTGCAGCTCTGCTCTTGGATTGCTCCAAGCCTCATTCCCTCCACATTCCTGACTCCTGTGTGGCTATGGGCCAAGCAGTCTTTCCTTGAGCCTCTGACATCCGATTCTGTGTCATGGGGTTATCAGCCCTGCCTTCTTGGT... | CCTCTGCCCCTCAAGGCTGATGGAGATGGCGTTTTCAGGGAGGATGGATGGGGTAACGTGAGGAAACTGAGGCTCGGGAGTACAGAGCCTGCCCCACCTGCTGCATGACCTTGGGTCAACCCTGCCCCTCTCTGAGGCCTTTAGCAGGTAGAGAATGGGCCAGAGCAGCTCCGAGTGCCCTGCAGCTCTGCTCTTGGATTGCTCCAAGCCTCATTCCCTCCACATTCCTGACTCCTGTGTGGCTATGGGCCAAGCAGTCTTTCCTTGAGCCTCTGACATCCGATTCTGTGTCATGGGGTTATCAGCCCTGCCTTCTTGGT... | pathogenic | 150,494 |
Regarding the variant found on chromosome 9 at position 127818370 in gene ENG: is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_hemorrhagic_telangiectasia', 'Telangiectasia,_hereditary_hemorrhagic,_type_1'] | CAGGGAGGATGGATGGGGTAACGTGAGGAAACTGAGGCTCGGGAGTACAGAGCCTGCCCCACCTGCTGCATGACCTTGGGTCAACCCTGCCCCTCTCTGAGGCCTTTAGCAGGTAGAGAATGGGCCAGAGCAGCTCCGAGTGCCCTGCAGCTCTGCTCTTGGATTGCTCCAAGCCTCATTCCCTCCACATTCCTGACTCCTGTGTGGCTATGGGCCAAGCAGTCTTTCCTTGAGCCTCTGACATCCGATTCTGTGTCATGGGGTTATCAGCCCTGCCTTCTTGGTCCTGGGCTGGGAGTGGAGGCTCCATCCTGGCCTGG... | CAGGGAGGATGGATGGGGTAACGTGAGGAAACTGAGGCTCGGGAGTACAGAGCCTGCCCCACCTGCTGCATGACCTTGGGTCAACCCTGCCCCTCTCTGAGGCCTTTAGCAGGTAGAGAATGGGCCAGAGCAGCTCCGAGTGCCCTGCAGCTCTGCTCTTGGATTGCTCCAAGCCTCATTCCCTCCACATTCCTGACTCCTGTGTGGCTATGGGCCAAGCAGTCTTTCCTTGAGCCTCTGACATCCGATTCTGTGTCATGGGGTTATCAGCCCTGCCTTCTTGGTCCTGGGCTGGGAGTGGAGGCTCCATCCTGGCCTGG... | pathogenic | 150,503 |
Gene ENG variant at chromosome 9, position 127818759—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Hereditary_hemorrhagic_telangiectasia', 'Telangiectasia,_hereditary_hemorrhagic,_type_1'] | TGCCTGGTGTGGGCCTGGGCCTGGGGGGAACTGATGGAGAGGCTAGAGGGGGCGTCCTGCAGGGAGAGGCCTCAAGGAAGGCAAGGCCAGCACCCACCCTCAAAGGGCCTCTGTCTCACCCAGGAGACTCCATCCTCCCAGCAAGGTCAGCCAATAACTGTGGGGATGGAGTGGAGCCGTGAGTGGGGGCAGAGGCCTAGACTCCCACCCCACAGGGCGGTCCCGGGCAAGGGCTCTCCATCTGCAAAGTGCAGCTCTGGCCCCTGCTCTAGGCTGCTATGGCTCTGGGAAGCCCTCCTCCTGCCCCTTCTGGGCCGCTT... | TGCCTGGTGTGGGCCTGGGCCTGGGGGGAACTGATGGAGAGGCTAGAGGGGGCGTCCTGCAGGGAGAGGCCTCAAGGAAGGCAAGGCCAGCACCCACCCTCAAAGGGCCTCTGTCTCACCCAGGAGACTCCATCCTCCCAGCAAGGTCAGCCAATAACTGTGGGGATGGAGTGGAGCCGTGAGTGGGGGCAGAGGCCTAGACTCCCACCCCACAGGGCGGTCCCGGGCAAGGGCTCTCCATCTGCAAAGTGCAGCTCTGGCCCCTGCTCTAGGCTGCTATGGCTCTGGGAAGCCCTCCTCCTGCCCCTTCTGGGCCGCTT... | pathogenic | 150,516 |
Gene ENG variant at chromosome 9, position 127818780—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Hereditary_hemorrhagic_telangiectasia'] | TGGGGGGAACTGATGGAGAGGCTAGAGGGGGCGTCCTGCAGGGAGAGGCCTCAAGGAAGGCAAGGCCAGCACCCACCCTCAAAGGGCCTCTGTCTCACCCAGGAGACTCCATCCTCCCAGCAAGGTCAGCCAATAACTGTGGGGATGGAGTGGAGCCGTGAGTGGGGGCAGAGGCCTAGACTCCCACCCCACAGGGCGGTCCCGGGCAAGGGCTCTCCATCTGCAAAGTGCAGCTCTGGCCCCTGCTCTAGGCTGCTATGGCTCTGGGAAGCCCTCCTCCTGCCCCTTCTGGGCCGCTTTCTCTGGGGTCCCCCTTGCCA... | TGGGGGGAACTGATGGAGAGGCTAGAGGGGGCGTCCTGCAGGGAGAGGCCTCAAGGAAGGCAAGGCCAGCACCCACCCTCAAAGGGCCTCTGTCTCACCCAGGAGACTCCATCCTCCCAGCAAGGTCAGCCAATAACTGTGGGGATGGAGTGGAGCCGTGAGTGGGGGCAGAGGCCTAGACTCCCACCCCACAGGGCGGTCCCGGGCAAGGGCTCTCCATCTGCAAAGTGCAGCTCTGGCCCCTGCTCTAGGCTGCTATGGCTCTGGGAAGCCCTCCTCCTGCCCCTTCTGGGCCGCTTTCTCTGGGGTCCCCCTTGCCA... | pathogenic | 150,520 |
Regarding the variant at chromosome 9 and position 127818793, affecting gene ENG: benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Hereditary_hemorrhagic_telangiectasia'] | TGGAGAGGCTAGAGGGGGCGTCCTGCAGGGAGAGGCCTCAAGGAAGGCAAGGCCAGCACCCACCCTCAAAGGGCCTCTGTCTCACCCAGGAGACTCCATCCTCCCAGCAAGGTCAGCCAATAACTGTGGGGATGGAGTGGAGCCGTGAGTGGGGGCAGAGGCCTAGACTCCCACCCCACAGGGCGGTCCCGGGCAAGGGCTCTCCATCTGCAAAGTGCAGCTCTGGCCCCTGCTCTAGGCTGCTATGGCTCTGGGAAGCCCTCCTCCTGCCCCTTCTGGGCCGCTTTCTCTGGGGTCCCCCTTGCCATGTGCTATGTGCC... | TGGAGAGGCTAGAGGGGGCGTCCTGCAGGGAGAGGCCTCAAGGAAGGCAAGGCCAGCACCCACCCTCAAAGGGCCTCTGTCTCACCCAGGAGACTCCATCCTCCCAGCAAGGTCAGCCAATAACTGTGGGGATGGAGTGGAGCCGTGAGTGGGGGCAGAGGCCTAGACTCCCACCCCACAGGGCGGTCCCGGGCAAGGGCTCTCCATCTGCAAAGTGCAGCTCTGGCCCCTGCTCTAGGCTGCTATGGCTCTGGGAAGCCCTCCTCCTGCCCCTTCTGGGCCGCTTTCTCTGGGGTCCCCCTTGCCATGTGCTATGTGCC... | pathogenic | 150,521 |
Located at chromosome 9 position 127818796, the variant affecting gene ENG—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_hemorrhagic_telangiectasia', 'Telangiectasia,_hereditary_hemorrhagic,_type_1'] | AGAGGCTAGAGGGGGCGTCCTGCAGGGAGAGGCCTCAAGGAAGGCAAGGCCAGCACCCACCCTCAAAGGGCCTCTGTCTCACCCAGGAGACTCCATCCTCCCAGCAAGGTCAGCCAATAACTGTGGGGATGGAGTGGAGCCGTGAGTGGGGGCAGAGGCCTAGACTCCCACCCCACAGGGCGGTCCCGGGCAAGGGCTCTCCATCTGCAAAGTGCAGCTCTGGCCCCTGCTCTAGGCTGCTATGGCTCTGGGAAGCCCTCCTCCTGCCCCTTCTGGGCCGCTTTCTCTGGGGTCCCCCTTGCCATGTGCTATGTGCCCAG... | AGAGGCTAGAGGGGGCGTCCTGCAGGGAGAGGCCTCAAGGAAGGCAAGGCCAGCACCCACCCTCAAAGGGCCTCTGTCTCACCCAGGAGACTCCATCCTCCCAGCAAGGTCAGCCAATAACTGTGGGGATGGAGTGGAGCCGTGAGTGGGGGCAGAGGCCTAGACTCCCACCCCACAGGGCGGTCCCGGGCAAGGGCTCTCCATCTGCAAAGTGCAGCTCTGGCCCCTGCTCTAGGCTGCTATGGCTCTGGGAAGCCCTCCTCCTGCCCCTTCTGGGCCGCTTTCTCTGGGGTCCCCCTTGCCATGTGCTATGTGCCCAG... | pathogenic | 150,522 |
Assess the variant on chromosome 9, position 127819635, impacting ENG: is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_hemorrhagic_telangiectasia'] | ACCAGAGAAGTTTGTAATCCTGGAGGCCTGTCTGTGCAAGGGCCTGGGGGTGACTCTGGGGGCGTCCAGGATAGATTGCCTGAGAGTGGGGGTCACCAGATGGTGAAGTGTTGTGACTGGCAAATACAGAAAGCCAGGAGTGTGTGTCCTTTGTCCGCCTCTCTTCCCTCAGGTCTCCTGTTCTTTGAGATTACACTGGTGACCATACTACATGGATGTGCGGGTGGTTAGATTCCTGGGTGGGAGGGTGGATGGATGGATGGACGGACGGGTAAGTGAAAGGATGGATGGATGGATAGATGGACAGTGGCAGCTGCATA... | ACCAGAGAAGTTTGTAATCCTGGAGGCCTGTCTGTGCAAGGGCCTGGGGGTGACTCTGGGGGCGTCCAGGATAGATTGCCTGAGAGTGGGGGTCACCAGATGGTGAAGTGTTGTGACTGGCAAATACAGAAAGCCAGGAGTGTGTGTCCTTTGTCCGCCTCTCTTCCCTCAGGTCTCCTGTTCTTTGAGATTACACTGGTGACCATACTACATGGATGTGCGGGTGGTTAGATTCCTGGGTGGGAGGGTGGATGGATGGATGGACGGACGGGTAAGTGAAAGGATGGATGGATGGATAGATGGACAGTGGCAGCTGCATA... | pathogenic | 150,544 |
Does the variant on chromosome 9 at location 127819903 affecting gene ENG have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_hemorrhagic_telangiectasia'] | CGGGTAAGTGAAAGGATGGATGGATGGATAGATGGACAGTGGCAGCTGCATAGTCTGCCAGTGCCCCAGACACAGCAGTCCCACCAGAAAGCTCTCGGGTGGCAGAAAGTGCTGCTGGCAGCCAGACTGCCAGGCCACATGCCTGATTAAGGCTCCGCCCCTCACCAGCTGGCCCCACATCCCTGTGGGCTGCCATGTCCCTTCCTGCAAACCACAGACCTGGAAGCTCCCACTTGAAGCTGGGGCCGGCCCAGGCCCCACTCACCTGGTCTTGAGACCCGGTCTTGGGACGCAGGGCTACCGTGCAGCTGAGGGTGCCG... | CGGGTAAGTGAAAGGATGGATGGATGGATAGATGGACAGTGGCAGCTGCATAGTCTGCCAGTGCCCCAGACACAGCAGTCCCACCAGAAAGCTCTCGGGTGGCAGAAAGTGCTGCTGGCAGCCAGACTGCCAGGCCACATGCCTGATTAAGGCTCCGCCCCTCACCAGCTGGCCCCACATCCCTGTGGGCTGCCATGTCCCTTCCTGCAAACCACAGACCTGGAAGCTCCCACTTGAAGCTGGGGCCGGCCCAGGCCCCACTCACCTGGTCTTGAGACCCGGTCTTGGGACGCAGGGCTACCGTGCAGCTGAGGGTGCCG... | pathogenic | 150,553 |
Is chromosome 9, position 127819933, gene ENG variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_hemorrhagic_telangiectasia'] | GATGGACAGTGGCAGCTGCATAGTCTGCCAGTGCCCCAGACACAGCAGTCCCACCAGAAAGCTCTCGGGTGGCAGAAAGTGCTGCTGGCAGCCAGACTGCCAGGCCACATGCCTGATTAAGGCTCCGCCCCTCACCAGCTGGCCCCACATCCCTGTGGGCTGCCATGTCCCTTCCTGCAAACCACAGACCTGGAAGCTCCCACTTGAAGCTGGGGCCGGCCCAGGCCCCACTCACCTGGTCTTGAGACCCGGTCTTGGGACGCAGGGCTACCGTGCAGCTGAGGGTGCCGGTTTTGGGTATGGGTACTGTGTAGAAGTGG... | GATGGACAGTGGCAGCTGCATAGTCTGCCAGTGCCCCAGACACAGCAGTCCCACCAGAAAGCTCTCGGGTGGCAGAAAGTGCTGCTGGCAGCCAGACTGCCAGGCCACATGCCTGATTAAGGCTCCGCCCCTCACCAGCTGGCCCCACATCCCTGTGGGCTGCCATGTCCCTTCCTGCAAACCACAGACCTGGAAGCTCCCACTTGAAGCTGGGGCCGGCCCAGGCCCCACTCACCTGGTCTTGAGACCCGGTCTTGGGACGCAGGGCTACCGTGCAGCTGAGGGTGCCGGTTTTGGGTATGGGTACTGTGTAGAAGTGG... | pathogenic | 150,557 |
Considering the variant on chromosome 9, location 127819972, involving gene ENG, would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Hereditary_hemorrhagic_telangiectasia'] | ACACAGCAGTCCCACCAGAAAGCTCTCGGGTGGCAGAAAGTGCTGCTGGCAGCCAGACTGCCAGGCCACATGCCTGATTAAGGCTCCGCCCCTCACCAGCTGGCCCCACATCCCTGTGGGCTGCCATGTCCCTTCCTGCAAACCACAGACCTGGAAGCTCCCACTTGAAGCTGGGGCCGGCCCAGGCCCCACTCACCTGGTCTTGAGACCCGGTCTTGGGACGCAGGGCTACCGTGCAGCTGAGGGTGCCGGTTTTGGGTATGGGTACTGTGTAGAAGTGGAGGAGGAAGCTGAAGCGCGGGTCACCCTCGGGGCTTGGG... | ACACAGCAGTCCCACCAGAAAGCTCTCGGGTGGCAGAAAGTGCTGCTGGCAGCCAGACTGCCAGGCCACATGCCTGATTAAGGCTCCGCCCCTCACCAGCTGGCCCCACATCCCTGTGGGCTGCCATGTCCCTTCCTGCAAACCACAGACCTGGAAGCTCCCACTTGAAGCTGGGGCCGGCCCAGGCCCCACTCACCTGGTCTTGAGACCCGGTCTTGGGACGCAGGGCTACCGTGCAGCTGAGGGTGCCGGTTTTGGGTATGGGTACTGTGTAGAAGTGGAGGAGGAAGCTGAAGCGCGGGTCACCCTCGGGGCTTGGG... | pathogenic | 150,562 |
Regarding the variant at chromosome 9 and position 127819975, affecting gene ENG: benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['ENG-related_disorder', 'Hereditary_hemorrhagic_telangiectasia', 'Telangiectasia,_hereditary_hemorrhagic,_type_1'] | CAGCAGTCCCACCAGAAAGCTCTCGGGTGGCAGAAAGTGCTGCTGGCAGCCAGACTGCCAGGCCACATGCCTGATTAAGGCTCCGCCCCTCACCAGCTGGCCCCACATCCCTGTGGGCTGCCATGTCCCTTCCTGCAAACCACAGACCTGGAAGCTCCCACTTGAAGCTGGGGCCGGCCCAGGCCCCACTCACCTGGTCTTGAGACCCGGTCTTGGGACGCAGGGCTACCGTGCAGCTGAGGGTGCCGGTTTTGGGTATGGGTACTGTGTAGAAGTGGAGGAGGAAGCTGAAGCGCGGGTCACCCTCGGGGCTTGGGGAC... | CAGCAGTCCCACCAGAAAGCTCTCGGGTGGCAGAAAGTGCTGCTGGCAGCCAGACTGCCAGGCCACATGCCTGATTAAGGCTCCGCCCCTCACCAGCTGGCCCCACATCCCTGTGGGCTGCCATGTCCCTTCCTGCAAACCACAGACCTGGAAGCTCCCACTTGAAGCTGGGGCCGGCCCAGGCCCCACTCACCTGGTCTTGAGACCCGGTCTTGGGACGCAGGGCTACCGTGCAGCTGAGGGTGCCGGTTTTGGGTATGGGTACTGTGTAGAAGTGGAGGAGGAAGCTGAAGCGCGGGTCACCCTCGGGGCTTGGGGAC... | pathogenic | 150,563 |
Variant in gene ENG, located at chromosome 9 position 127819976: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_hemorrhagic_telangiectasia', 'Telangiectasia,_hereditary_hemorrhagic,_type_1'] | AGCAGTCCCACCAGAAAGCTCTCGGGTGGCAGAAAGTGCTGCTGGCAGCCAGACTGCCAGGCCACATGCCTGATTAAGGCTCCGCCCCTCACCAGCTGGCCCCACATCCCTGTGGGCTGCCATGTCCCTTCCTGCAAACCACAGACCTGGAAGCTCCCACTTGAAGCTGGGGCCGGCCCAGGCCCCACTCACCTGGTCTTGAGACCCGGTCTTGGGACGCAGGGCTACCGTGCAGCTGAGGGTGCCGGTTTTGGGTATGGGTACTGTGTAGAAGTGGAGGAGGAAGCTGAAGCGCGGGTCACCCTCGGGGCTTGGGGACA... | AGCAGTCCCACCAGAAAGCTCTCGGGTGGCAGAAAGTGCTGCTGGCAGCCAGACTGCCAGGCCACATGCCTGATTAAGGCTCCGCCCCTCACCAGCTGGCCCCACATCCCTGTGGGCTGCCATGTCCCTTCCTGCAAACCACAGACCTGGAAGCTCCCACTTGAAGCTGGGGCCGGCCCAGGCCCCACTCACCTGGTCTTGAGACCCGGTCTTGGGACGCAGGGCTACCGTGCAGCTGAGGGTGCCGGTTTTGGGTATGGGTACTGTGTAGAAGTGGAGGAGGAAGCTGAAGCGCGGGTCACCCTCGGGGCTTGGGGACA... | pathogenic | 150,564 |
The chromosome 9, position 127819995 genetic variant in gene ENG: benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_hemorrhagic_telangiectasia'] | TCTCGGGTGGCAGAAAGTGCTGCTGGCAGCCAGACTGCCAGGCCACATGCCTGATTAAGGCTCCGCCCCTCACCAGCTGGCCCCACATCCCTGTGGGCTGCCATGTCCCTTCCTGCAAACCACAGACCTGGAAGCTCCCACTTGAAGCTGGGGCCGGCCCAGGCCCCACTCACCTGGTCTTGAGACCCGGTCTTGGGACGCAGGGCTACCGTGCAGCTGAGGGTGCCGGTTTTGGGTATGGGTACTGTGTAGAAGTGGAGGAGGAAGCTGAAGCGCGGGTCACCCTCGGGGCTTGGGGACAGCAGGCTCACACAGTTGCC... | TCTCGGGTGGCAGAAAGTGCTGCTGGCAGCCAGACTGCCAGGCCACATGCCTGATTAAGGCTCCGCCCCTCACCAGCTGGCCCCACATCCCTGTGGGCTGCCATGTCCCTTCCTGCAAACCACAGACCTGGAAGCTCCCACTTGAAGCTGGGGCCGGCCCAGGCCCCACTCACCTGGTCTTGAGACCCGGTCTTGGGACGCAGGGCTACCGTGCAGCTGAGGGTGCCGGTTTTGGGTATGGGTACTGTGTAGAAGTGGAGGAGGAAGCTGAAGCGCGGGTCACCCTCGGGGCTTGGGGACAGCAGGCTCACACAGTTGCC... | pathogenic | 150,566 |
Classify the chromosome 9 variant at position 127820003 affecting gene ENG as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_hemorrhagic_telangiectasia', 'Telangiectasia,_hereditary_hemorrhagic,_type_1'] | GGCAGAAAGTGCTGCTGGCAGCCAGACTGCCAGGCCACATGCCTGATTAAGGCTCCGCCCCTCACCAGCTGGCCCCACATCCCTGTGGGCTGCCATGTCCCTTCCTGCAAACCACAGACCTGGAAGCTCCCACTTGAAGCTGGGGCCGGCCCAGGCCCCACTCACCTGGTCTTGAGACCCGGTCTTGGGACGCAGGGCTACCGTGCAGCTGAGGGTGCCGGTTTTGGGTATGGGTACTGTGTAGAAGTGGAGGAGGAAGCTGAAGCGCGGGTCACCCTCGGGGCTTGGGGACAGCAGGCTCACACAGTTGCCCTTGGCCG... | GGCAGAAAGTGCTGCTGGCAGCCAGACTGCCAGGCCACATGCCTGATTAAGGCTCCGCCCCTCACCAGCTGGCCCCACATCCCTGTGGGCTGCCATGTCCCTTCCTGCAAACCACAGACCTGGAAGCTCCCACTTGAAGCTGGGGCCGGCCCAGGCCCCACTCACCTGGTCTTGAGACCCGGTCTTGGGACGCAGGGCTACCGTGCAGCTGAGGGTGCCGGTTTTGGGTATGGGTACTGTGTAGAAGTGGAGGAGGAAGCTGAAGCGCGGGTCACCCTCGGGGCTTGGGGACAGCAGGCTCACACAGTTGCCCTTGGCCG... | pathogenic | 150,569 |
Chromosome 9, position 127824313, gene ENG (endoglin): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_hemorrhagic_telangiectasia'] | CAACTAAAACAAGAATGGAACGCCATGTGCCTCTTCCCACACTGGCAAAGGTTTCTCTTTTTTTGAATTATAGTCTGGAGACAGCGAAGAGGTTGAGGTGTTCTCGTAAATCAGTGGTGAAAATTCAAATCATCTTTGGGAAAGTGGGTTGGCAACATGTATTGAAACTTCATTCATTTTGACCCAGTAATTCCACTAATGTGGAAATCTATCCTGAGAAAATAATCCTATATAAAGAAATGTTTCATGCACAATGACATTTTTTGCATATTTATAATACTACAGAATTGGGAACAACCTAAATGTGTAACAAGGGAAGA... | CAACTAAAACAAGAATGGAACGCCATGTGCCTCTTCCCACACTGGCAAAGGTTTCTCTTTTTTTGAATTATAGTCTGGAGACAGCGAAGAGGTTGAGGTGTTCTCGTAAATCAGTGGTGAAAATTCAAATCATCTTTGGGAAAGTGGGTTGGCAACATGTATTGAAACTTCATTCATTTTGACCCAGTAATTCCACTAATGTGGAAATCTATCCTGAGAAAATAATCCTATATAAAGAAATGTTTCATGCACAATGACATTTTTTGCATATTTATAATACTACAGAATTGGGAACAACCTAAATGTGTAACAAGGGAAGA... | pathogenic | 150,575 |
Variant in gene ENG (endoglin), located at chromosome 9 position 127824316: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_hemorrhagic_telangiectasia', 'Telangiectasia,_hereditary_hemorrhagic,_type_1'] | CTAAAACAAGAATGGAACGCCATGTGCCTCTTCCCACACTGGCAAAGGTTTCTCTTTTTTTGAATTATAGTCTGGAGACAGCGAAGAGGTTGAGGTGTTCTCGTAAATCAGTGGTGAAAATTCAAATCATCTTTGGGAAAGTGGGTTGGCAACATGTATTGAAACTTCATTCATTTTGACCCAGTAATTCCACTAATGTGGAAATCTATCCTGAGAAAATAATCCTATATAAAGAAATGTTTCATGCACAATGACATTTTTTGCATATTTATAATACTACAGAATTGGGAACAACCTAAATGTGTAACAAGGGAAGAGGA... | CTAAAACAAGAATGGAACGCCATGTGCCTCTTCCCACACTGGCAAAGGTTTCTCTTTTTTTGAATTATAGTCTGGAGACAGCGAAGAGGTTGAGGTGTTCTCGTAAATCAGTGGTGAAAATTCAAATCATCTTTGGGAAAGTGGGTTGGCAACATGTATTGAAACTTCATTCATTTTGACCCAGTAATTCCACTAATGTGGAAATCTATCCTGAGAAAATAATCCTATATAAAGAAATGTTTCATGCACAATGACATTTTTTGCATATTTATAATACTACAGAATTGGGAACAACCTAAATGTGTAACAAGGGAAGAGGA... | pathogenic | 150,576 |
The chromosome 9, position 127824352 genetic variant in gene ENG (endoglin): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_hemorrhagic_telangiectasia'] | CACTGGCAAAGGTTTCTCTTTTTTTGAATTATAGTCTGGAGACAGCGAAGAGGTTGAGGTGTTCTCGTAAATCAGTGGTGAAAATTCAAATCATCTTTGGGAAAGTGGGTTGGCAACATGTATTGAAACTTCATTCATTTTGACCCAGTAATTCCACTAATGTGGAAATCTATCCTGAGAAAATAATCCTATATAAAGAAATGTTTCATGCACAATGACATTTTTTGCATATTTATAATACTACAGAATTGGGAACAACCTAAATGTGTAACAAGGGAAGAGGAGTTAATTATAGCATGTCAATATGATGGAATAATATG... | CACTGGCAAAGGTTTCTCTTTTTTTGAATTATAGTCTGGAGACAGCGAAGAGGTTGAGGTGTTCTCGTAAATCAGTGGTGAAAATTCAAATCATCTTTGGGAAAGTGGGTTGGCAACATGTATTGAAACTTCATTCATTTTGACCCAGTAATTCCACTAATGTGGAAATCTATCCTGAGAAAATAATCCTATATAAAGAAATGTTTCATGCACAATGACATTTTTTGCATATTTATAATACTACAGAATTGGGAACAACCTAAATGTGTAACAAGGGAAGAGGAGTTAATTATAGCATGTCAATATGATGGAATAATATG... | pathogenic | 150,585 |
Evaluate if the mutation on chromosome 9 at position 127824354 in ENG (endoglin) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_hemorrhagic_telangiectasia', 'Telangiectasia,_hereditary_hemorrhagic,_type_1'] | CTGGCAAAGGTTTCTCTTTTTTTGAATTATAGTCTGGAGACAGCGAAGAGGTTGAGGTGTTCTCGTAAATCAGTGGTGAAAATTCAAATCATCTTTGGGAAAGTGGGTTGGCAACATGTATTGAAACTTCATTCATTTTGACCCAGTAATTCCACTAATGTGGAAATCTATCCTGAGAAAATAATCCTATATAAAGAAATGTTTCATGCACAATGACATTTTTTGCATATTTATAATACTACAGAATTGGGAACAACCTAAATGTGTAACAAGGGAAGAGGAGTTAATTATAGCATGTCAATATGATGGAATAATATGTG... | CTGGCAAAGGTTTCTCTTTTTTTGAATTATAGTCTGGAGACAGCGAAGAGGTTGAGGTGTTCTCGTAAATCAGTGGTGAAAATTCAAATCATCTTTGGGAAAGTGGGTTGGCAACATGTATTGAAACTTCATTCATTTTGACCCAGTAATTCCACTAATGTGGAAATCTATCCTGAGAAAATAATCCTATATAAAGAAATGTTTCATGCACAATGACATTTTTTGCATATTTATAATACTACAGAATTGGGAACAACCTAAATGTGTAACAAGGGAAGAGGAGTTAATTATAGCATGTCAATATGATGGAATAATATGTG... | pathogenic | 150,586 |
Evaluate this variant at chromosome 9, position 127824436, gene ENG (endoglin): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Hereditary_hemorrhagic_telangiectasia'] | TTCAAATCATCTTTGGGAAAGTGGGTTGGCAACATGTATTGAAACTTCATTCATTTTGACCCAGTAATTCCACTAATGTGGAAATCTATCCTGAGAAAATAATCCTATATAAAGAAATGTTTCATGCACAATGACATTTTTTGCATATTTATAATACTACAGAATTGGGAACAACCTAAATGTGTAACAAGGGAAGAGGAGTTAATTATAGCATGTCAATATGATGGAATAATATGTGCTTATTAAACATGATATTAGGTACAGCTGTCAAAGCTCTAAAAATACATTAAGTGAAATAGTAAGAGACAAATGAACACATC... | TTCAAATCATCTTTGGGAAAGTGGGTTGGCAACATGTATTGAAACTTCATTCATTTTGACCCAGTAATTCCACTAATGTGGAAATCTATCCTGAGAAAATAATCCTATATAAAGAAATGTTTCATGCACAATGACATTTTTTGCATATTTATAATACTACAGAATTGGGAACAACCTAAATGTGTAACAAGGGAAGAGGAGTTAATTATAGCATGTCAATATGATGGAATAATATGTGCTTATTAAACATGATATTAGGTACAGCTGTCAAAGCTCTAAAAATACATTAAGTGAAATAGTAAGAGACAAATGAACACATC... | pathogenic | 150,596 |
Evaluate this variant at chromosome 9, position 127824807, gene ENG (endoglin): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Hereditary_hemorrhagic_telangiectasia'] | AAGCACACCAAAATGTTGGCAGCCATTGTCTTTGTGTCAGAAGGTTAAGATTTTCTAATTTTCACATATTTTTTAAAGCATGTTTTTTGTTTGTTTGTTTGAAATGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAATCTCCCTCTACCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGTGCACCACCACGTCCGGCTAATTTTTTCTATTTTAGTAGAGACAGGGTTTCACCGTGTTGCCCAGGCTGGTCTCAAACTCTTGAGCTCCGGC... | AAGCACACCAAAATGTTGGCAGCCATTGTCTTTGTGTCAGAAGGTTAAGATTTTCTAATTTTCACATATTTTTTAAAGCATGTTTTTTGTTTGTTTGTTTGAAATGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAATCTCCCTCTACCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGTGCACCACCACGTCCGGCTAATTTTTTCTATTTTAGTAGAGACAGGGTTTCACCGTGTTGCCCAGGCTGGTCTCAAACTCTTGAGCTCCGGC... | pathogenic | 150,606 |
Evaluate this variant at chromosome 9, position 127824824, gene ENG (endoglin): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_hemorrhagic_telangiectasia'] | GGCAGCCATTGTCTTTGTGTCAGAAGGTTAAGATTTTCTAATTTTCACATATTTTTTAAAGCATGTTTTTTGTTTGTTTGTTTGAAATGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAATCTCCCTCTACCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGTGCACCACCACGTCCGGCTAATTTTTTCTATTTTAGTAGAGACAGGGTTTCACCGTGTTGCCCAGGCTGGTCTCAAACTCTTGAGCTCCGGCAATCTGCCTGCCTCGGC... | GGCAGCCATTGTCTTTGTGTCAGAAGGTTAAGATTTTCTAATTTTCACATATTTTTTAAAGCATGTTTTTTGTTTGTTTGTTTGAAATGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAATCTCCCTCTACCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGTGCACCACCACGTCCGGCTAATTTTTTCTATTTTAGTAGAGACAGGGTTTCACCGTGTTGCCCAGGCTGGTCTCAAACTCTTGAGCTCCGGCAATCTGCCTGCCTCGGC... | pathogenic | 150,607 |
A genetic variant on chromosome 9, position 127824835, affects the gene ENG (endoglin). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Hereditary_hemorrhagic_telangiectasia', 'Telangiectasia,_hereditary_hemorrhagic,_type_1'] | TCTTTGTGTCAGAAGGTTAAGATTTTCTAATTTTCACATATTTTTTAAAGCATGTTTTTTGTTTGTTTGTTTGAAATGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAATCTCCCTCTACCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGTGCACCACCACGTCCGGCTAATTTTTTCTATTTTAGTAGAGACAGGGTTTCACCGTGTTGCCCAGGCTGGTCTCAAACTCTTGAGCTCCGGCAATCTGCCTGCCTCGGCCTCCAAAGTGC... | TCTTTGTGTCAGAAGGTTAAGATTTTCTAATTTTCACATATTTTTTAAAGCATGTTTTTTGTTTGTTTGTTTGAAATGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAATCTCCCTCTACCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGTGCACCACCACGTCCGGCTAATTTTTTCTATTTTAGTAGAGACAGGGTTTCACCGTGTTGCCCAGGCTGGTCTCAAACTCTTGAGCTCCGGCAATCTGCCTGCCTCGGCCTCCAAAGTGC... | pathogenic | 150,608 |
Does the variant impacting ENG (endoglin) on chromosome 9, position 127824856, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Telangiectasia,_hereditary_hemorrhagic,_type_1'] | ATTTTCTAATTTTCACATATTTTTTAAAGCATGTTTTTTGTTTGTTTGTTTGAAATGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAATCTCCCTCTACCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGTGCACCACCACGTCCGGCTAATTTTTTCTATTTTAGTAGAGACAGGGTTTCACCGTGTTGCCCAGGCTGGTCTCAAACTCTTGAGCTCCGGCAATCTGCCTGCCTCGGCCTCCAAAGTGCTAGGGTTACAGGTGTGAGCCA... | ATTTTCTAATTTTCACATATTTTTTAAAGCATGTTTTTTGTTTGTTTGTTTGAAATGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAATCTCCCTCTACCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGTGCACCACCACGTCCGGCTAATTTTTTCTATTTTAGTAGAGACAGGGTTTCACCGTGTTGCCCAGGCTGGTCTCAAACTCTTGAGCTCCGGCAATCTGCCTGCCTCGGCCTCCAAAGTGCTAGGGTTACAGGTGTGAGCCA... | pathogenic | 150,611 |
Determine if the mutation at chromosome 9, position 127824870 in gene ENG (endoglin) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Cerebral_arteriovenous_malformation', 'Hereditary_hemorrhagic_telangiectasia'] | ACATATTTTTTAAAGCATGTTTTTTGTTTGTTTGTTTGAAATGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAATCTCCCTCTACCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGTGCACCACCACGTCCGGCTAATTTTTTCTATTTTAGTAGAGACAGGGTTTCACCGTGTTGCCCAGGCTGGTCTCAAACTCTTGAGCTCCGGCAATCTGCCTGCCTCGGCCTCCAAAGTGCTAGGGTTACAGGTGTGAGCCACTGTGCCTGGCCAG... | ACATATTTTTTAAAGCATGTTTTTTGTTTGTTTGTTTGAAATGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAATCTCCCTCTACCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGTGCACCACCACGTCCGGCTAATTTTTTCTATTTTAGTAGAGACAGGGTTTCACCGTGTTGCCCAGGCTGGTCTCAAACTCTTGAGCTCCGGCAATCTGCCTGCCTCGGCCTCCAAAGTGCTAGGGTTACAGGTGTGAGCCACTGTGCCTGGCCAG... | pathogenic | 150,614 |
Clinical classification of chromosome 9, position 127824886, gene ENG (endoglin): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_hemorrhagic_telangiectasia'] | ATGTTTTTTGTTTGTTTGTTTGAAATGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAATCTCCCTCTACCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGTGCACCACCACGTCCGGCTAATTTTTTCTATTTTAGTAGAGACAGGGTTTCACCGTGTTGCCCAGGCTGGTCTCAAACTCTTGAGCTCCGGCAATCTGCCTGCCTCGGCCTCCAAAGTGCTAGGGTTACAGGTGTGAGCCACTGTGCCTGGCCAGCATGTGTTCTTTCATT... | ATGTTTTTTGTTTGTTTGTTTGAAATGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAATCTCCCTCTACCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGTGCACCACCACGTCCGGCTAATTTTTTCTATTTTAGTAGAGACAGGGTTTCACCGTGTTGCCCAGGCTGGTCTCAAACTCTTGAGCTCCGGCAATCTGCCTGCCTCGGCCTCCAAAGTGCTAGGGTTACAGGTGTGAGCCACTGTGCCTGGCCAGCATGTGTTCTTTCATT... | pathogenic | 150,616 |
Classify the chromosome 9 variant at position 127824895 affecting gene ENG (endoglin) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Cardiovascular_phenotype', 'Telangiectasia,_hereditary_hemorrhagic,_type_1'] | GTTTGTTTGTTTGAAATGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAATCTCCCTCTACCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGTGCACCACCACGTCCGGCTAATTTTTTCTATTTTAGTAGAGACAGGGTTTCACCGTGTTGCCCAGGCTGGTCTCAAACTCTTGAGCTCCGGCAATCTGCCTGCCTCGGCCTCCAAAGTGCTAGGGTTACAGGTGTGAGCCACTGTGCCTGGCCAGCATGTGTTCTTTCATTTTATTTTGA... | GTTTGTTTGTTTGAAATGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAATCTCCCTCTACCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGTGCACCACCACGTCCGGCTAATTTTTTCTATTTTAGTAGAGACAGGGTTTCACCGTGTTGCCCAGGCTGGTCTCAAACTCTTGAGCTCCGGCAATCTGCCTGCCTCGGCCTCCAAAGTGCTAGGGTTACAGGTGTGAGCCACTGTGCCTGGCCAGCATGTGTTCTTTCATTTTATTTTGA... | pathogenic | 150,620 |
Gene ENG (endoglin) variant at chromosome position 127824904 on chromosome 9: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Hereditary_hemorrhagic_telangiectasia'] | TTTGAAATGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAATCTCCCTCTACCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGTGCACCACCACGTCCGGCTAATTTTTTCTATTTTAGTAGAGACAGGGTTTCACCGTGTTGCCCAGGCTGGTCTCAAACTCTTGAGCTCCGGCAATCTGCCTGCCTCGGCCTCCAAAGTGCTAGGGTTACAGGTGTGAGCCACTGTGCCTGGCCAGCATGTGTTCTTTCATTTTATTTTGAGACGAGTCT... | TTTGAAATGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAATCTCCCTCTACCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGTGCACCACCACGTCCGGCTAATTTTTTCTATTTTAGTAGAGACAGGGTTTCACCGTGTTGCCCAGGCTGGTCTCAAACTCTTGAGCTCCGGCAATCTGCCTGCCTCGGCCTCCAAAGTGCTAGGGTTACAGGTGTGAGCCACTGTGCCTGGCCAGCATGTGTTCTTTCATTTTATTTTGAGACGAGTCT... | pathogenic | 150,621 |
Evaluate the clinical significance of the mutation at chromosome 9, position 127824909 in gene ENG (endoglin): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Hereditary_hemorrhagic_telangiectasia'] | AATGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAATCTCCCTCTACCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGTGCACCACCACGTCCGGCTAATTTTTTCTATTTTAGTAGAGACAGGGTTTCACCGTGTTGCCCAGGCTGGTCTCAAACTCTTGAGCTCCGGCAATCTGCCTGCCTCGGCCTCCAAAGTGCTAGGGTTACAGGTGTGAGCCACTGTGCCTGGCCAGCATGTGTTCTTTCATTTTATTTTGAGACGAGTCTTGCTC... | AATGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAATCTCCCTCTACCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGTGCACCACCACGTCCGGCTAATTTTTTCTATTTTAGTAGAGACAGGGTTTCACCGTGTTGCCCAGGCTGGTCTCAAACTCTTGAGCTCCGGCAATCTGCCTGCCTCGGCCTCCAAAGTGCTAGGGTTACAGGTGTGAGCCACTGTGCCTGGCCAGCATGTGTTCTTTCATTTTATTTTGAGACGAGTCTTGCTC... | pathogenic | 150,622 |
Variant in gene ENG (endoglin), located at chromosome 9 position 127824962: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_hemorrhagic_telangiectasia'] | CACTGCAATCTCCCTCTACCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGTGCACCACCACGTCCGGCTAATTTTTTCTATTTTAGTAGAGACAGGGTTTCACCGTGTTGCCCAGGCTGGTCTCAAACTCTTGAGCTCCGGCAATCTGCCTGCCTCGGCCTCCAAAGTGCTAGGGTTACAGGTGTGAGCCACTGTGCCTGGCCAGCATGTGTTCTTTCATTTTATTTTGAGACGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCATGATCTTGGCTCACTGCAAGCTCCGC... | CACTGCAATCTCCCTCTACCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGTGCACCACCACGTCCGGCTAATTTTTTCTATTTTAGTAGAGACAGGGTTTCACCGTGTTGCCCAGGCTGGTCTCAAACTCTTGAGCTCCGGCAATCTGCCTGCCTCGGCCTCCAAAGTGCTAGGGTTACAGGTGTGAGCCACTGTGCCTGGCCAGCATGTGTTCTTTCATTTTATTTTGAGACGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCATGATCTTGGCTCACTGCAAGCTCCGC... | pathogenic | 150,627 |
Mutation at chromosome 9, position 127825257, within ENG (endoglin): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Cardiovascular_phenotype', 'ENG-related_disorder', 'Hereditary_hemorrhagic_telangiectasia'] | GATCTTGGCTCACTGCAAGCTCCGCCTCCCGGGTTCAGGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCTACCACCATGCCTGGCTAATATTTTGTATTCACCATGTGTTATTTTTATAACAAATATATTTGTTTGTCAACCAGGCAGTGATCATATTGTATAGGCTTTTTTTTTTTTCTTTGAGATGGAGTCTCTCTCTGTCACCCAAGCTGGAGTACAGTGGTGCGATCTCAGCTCACTGCAAGCTCTGCCTCCCGGGTTCACACCATTCTCCTGCCTCAGCCTCCCGATTAGCTGGGACTA... | GATCTTGGCTCACTGCAAGCTCCGCCTCCCGGGTTCAGGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCTACCACCATGCCTGGCTAATATTTTGTATTCACCATGTGTTATTTTTATAACAAATATATTTGTTTGTCAACCAGGCAGTGATCATATTGTATAGGCTTTTTTTTTTTTCTTTGAGATGGAGTCTCTCTCTGTCACCCAAGCTGGAGTACAGTGGTGCGATCTCAGCTCACTGCAAGCTCTGCCTCCCGGGTTCACACCATTCTCCTGCCTCAGCCTCCCGATTAGCTGGGACTA... | pathogenic | 150,635 |
The mutation in gene ENG (endoglin) at chromosome 9, position 127825260—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_hemorrhagic_telangiectasia'] | CTTGGCTCACTGCAAGCTCCGCCTCCCGGGTTCAGGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCTACCACCATGCCTGGCTAATATTTTGTATTCACCATGTGTTATTTTTATAACAAATATATTTGTTTGTCAACCAGGCAGTGATCATATTGTATAGGCTTTTTTTTTTTTCTTTGAGATGGAGTCTCTCTCTGTCACCCAAGCTGGAGTACAGTGGTGCGATCTCAGCTCACTGCAAGCTCTGCCTCCCGGGTTCACACCATTCTCCTGCCTCAGCCTCCCGATTAGCTGGGACTACAG... | CTTGGCTCACTGCAAGCTCCGCCTCCCGGGTTCAGGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCTACCACCATGCCTGGCTAATATTTTGTATTCACCATGTGTTATTTTTATAACAAATATATTTGTTTGTCAACCAGGCAGTGATCATATTGTATAGGCTTTTTTTTTTTTCTTTGAGATGGAGTCTCTCTCTGTCACCCAAGCTGGAGTACAGTGGTGCGATCTCAGCTCACTGCAAGCTCTGCCTCCCGGGTTCACACCATTCTCCTGCCTCAGCCTCCCGATTAGCTGGGACTACAG... | pathogenic | 150,636 |
Gene mutation in ENG (endoglin) at chromosome 9, position 127825264—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Hereditary_hemorrhagic_telangiectasia'] | GCTCACTGCAAGCTCCGCCTCCCGGGTTCAGGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCTACCACCATGCCTGGCTAATATTTTGTATTCACCATGTGTTATTTTTATAACAAATATATTTGTTTGTCAACCAGGCAGTGATCATATTGTATAGGCTTTTTTTTTTTTCTTTGAGATGGAGTCTCTCTCTGTCACCCAAGCTGGAGTACAGTGGTGCGATCTCAGCTCACTGCAAGCTCTGCCTCCCGGGTTCACACCATTCTCCTGCCTCAGCCTCCCGATTAGCTGGGACTACAGGCGC... | GCTCACTGCAAGCTCCGCCTCCCGGGTTCAGGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCTACCACCATGCCTGGCTAATATTTTGTATTCACCATGTGTTATTTTTATAACAAATATATTTGTTTGTCAACCAGGCAGTGATCATATTGTATAGGCTTTTTTTTTTTTCTTTGAGATGGAGTCTCTCTCTGTCACCCAAGCTGGAGTACAGTGGTGCGATCTCAGCTCACTGCAAGCTCTGCCTCCCGGGTTCACACCATTCTCCTGCCTCAGCCTCCCGATTAGCTGGGACTACAGGCGC... | pathogenic | 150,638 |
Is the genetic change at chromosome 9, position 127825268, within gene ENG (endoglin) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Hereditary_hemorrhagic_telangiectasia', 'Telangiectasia,_hereditary_hemorrhagic,_type_1'] | ACTGCAAGCTCCGCCTCCCGGGTTCAGGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCTACCACCATGCCTGGCTAATATTTTGTATTCACCATGTGTTATTTTTATAACAAATATATTTGTTTGTCAACCAGGCAGTGATCATATTGTATAGGCTTTTTTTTTTTTCTTTGAGATGGAGTCTCTCTCTGTCACCCAAGCTGGAGTACAGTGGTGCGATCTCAGCTCACTGCAAGCTCTGCCTCCCGGGTTCACACCATTCTCCTGCCTCAGCCTCCCGATTAGCTGGGACTACAGGCGCCTGC... | ACTGCAAGCTCCGCCTCCCGGGTTCAGGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCTACCACCATGCCTGGCTAATATTTTGTATTCACCATGTGTTATTTTTATAACAAATATATTTGTTTGTCAACCAGGCAGTGATCATATTGTATAGGCTTTTTTTTTTTTCTTTGAGATGGAGTCTCTCTCTGTCACCCAAGCTGGAGTACAGTGGTGCGATCTCAGCTCACTGCAAGCTCTGCCTCCCGGGTTCACACCATTCTCCTGCCTCAGCCTCCCGATTAGCTGGGACTACAGGCGCCTGC... | pathogenic | 150,639 |
The mutation in gene ENG (endoglin) at chromosome 9, position 127825270—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_hemorrhagic_telangiectasia'] | TGCAAGCTCCGCCTCCCGGGTTCAGGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCTACCACCATGCCTGGCTAATATTTTGTATTCACCATGTGTTATTTTTATAACAAATATATTTGTTTGTCAACCAGGCAGTGATCATATTGTATAGGCTTTTTTTTTTTTCTTTGAGATGGAGTCTCTCTCTGTCACCCAAGCTGGAGTACAGTGGTGCGATCTCAGCTCACTGCAAGCTCTGCCTCCCGGGTTCACACCATTCTCCTGCCTCAGCCTCCCGATTAGCTGGGACTACAGGCGCCTGCCA... | TGCAAGCTCCGCCTCCCGGGTTCAGGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCTACCACCATGCCTGGCTAATATTTTGTATTCACCATGTGTTATTTTTATAACAAATATATTTGTTTGTCAACCAGGCAGTGATCATATTGTATAGGCTTTTTTTTTTTTCTTTGAGATGGAGTCTCTCTCTGTCACCCAAGCTGGAGTACAGTGGTGCGATCTCAGCTCACTGCAAGCTCTGCCTCCCGGGTTCACACCATTCTCCTGCCTCAGCCTCCCGATTAGCTGGGACTACAGGCGCCTGCCA... | pathogenic | 150,640 |
Is the genetic variant on chromosome 9, position 127825274, gene ENG (endoglin), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_hemorrhagic_telangiectasia', 'Telangiectasia,_hereditary_hemorrhagic,_type_1'] | AGCTCCGCCTCCCGGGTTCAGGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCTACCACCATGCCTGGCTAATATTTTGTATTCACCATGTGTTATTTTTATAACAAATATATTTGTTTGTCAACCAGGCAGTGATCATATTGTATAGGCTTTTTTTTTTTTCTTTGAGATGGAGTCTCTCTCTGTCACCCAAGCTGGAGTACAGTGGTGCGATCTCAGCTCACTGCAAGCTCTGCCTCCCGGGTTCACACCATTCTCCTGCCTCAGCCTCCCGATTAGCTGGGACTACAGGCGCCTGCCACCAC... | AGCTCCGCCTCCCGGGTTCAGGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCTACCACCATGCCTGGCTAATATTTTGTATTCACCATGTGTTATTTTTATAACAAATATATTTGTTTGTCAACCAGGCAGTGATCATATTGTATAGGCTTTTTTTTTTTTCTTTGAGATGGAGTCTCTCTCTGTCACCCAAGCTGGAGTACAGTGGTGCGATCTCAGCTCACTGCAAGCTCTGCCTCCCGGGTTCACACCATTCTCCTGCCTCAGCCTCCCGATTAGCTGGGACTACAGGCGCCTGCCACCAC... | pathogenic | 150,643 |
Variant at chromosome position 127825275, chromosome 9, gene ENG (endoglin): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_hemorrhagic_telangiectasia'] | GCTCCGCCTCCCGGGTTCAGGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCTACCACCATGCCTGGCTAATATTTTGTATTCACCATGTGTTATTTTTATAACAAATATATTTGTTTGTCAACCAGGCAGTGATCATATTGTATAGGCTTTTTTTTTTTTCTTTGAGATGGAGTCTCTCTCTGTCACCCAAGCTGGAGTACAGTGGTGCGATCTCAGCTCACTGCAAGCTCTGCCTCCCGGGTTCACACCATTCTCCTGCCTCAGCCTCCCGATTAGCTGGGACTACAGGCGCCTGCCACCACA... | GCTCCGCCTCCCGGGTTCAGGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCTACCACCATGCCTGGCTAATATTTTGTATTCACCATGTGTTATTTTTATAACAAATATATTTGTTTGTCAACCAGGCAGTGATCATATTGTATAGGCTTTTTTTTTTTTCTTTGAGATGGAGTCTCTCTCTGTCACCCAAGCTGGAGTACAGTGGTGCGATCTCAGCTCACTGCAAGCTCTGCCTCCCGGGTTCACACCATTCTCCTGCCTCAGCCTCCCGATTAGCTGGGACTACAGGCGCCTGCCACCACA... | pathogenic | 150,644 |
Assess the variant on chromosome 9, position 127825275, impacting ENG (endoglin): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_hemorrhagic_telangiectasia', 'Telangiectasia,_hereditary_hemorrhagic,_type_1'] | GCTCCGCCTCCCGGGTTCAGGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCTACCACCATGCCTGGCTAATATTTTGTATTCACCATGTGTTATTTTTATAACAAATATATTTGTTTGTCAACCAGGCAGTGATCATATTGTATAGGCTTTTTTTTTTTTCTTTGAGATGGAGTCTCTCTCTGTCACCCAAGCTGGAGTACAGTGGTGCGATCTCAGCTCACTGCAAGCTCTGCCTCCCGGGTTCACACCATTCTCCTGCCTCAGCCTCCCGATTAGCTGGGACTACAGGCGCCTGCCACCACA... | GCTCCGCCTCCCGGGTTCAGGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCTACCACCATGCCTGGCTAATATTTTGTATTCACCATGTGTTATTTTTATAACAAATATATTTGTTTGTCAACCAGGCAGTGATCATATTGTATAGGCTTTTTTTTTTTTCTTTGAGATGGAGTCTCTCTCTGTCACCCAAGCTGGAGTACAGTGGTGCGATCTCAGCTCACTGCAAGCTCTGCCTCCCGGGTTCACACCATTCTCCTGCCTCAGCCTCCCGATTAGCTGGGACTACAGGCGCCTGCCACCACA... | pathogenic | 150,645 |
Determine whether the variant at chromosome 9, position 127825281, in gene ENG (endoglin) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Hereditary_hemorrhagic_telangiectasia', 'likely other unspecified diseases'] | CCTCCCGGGTTCAGGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCTACCACCATGCCTGGCTAATATTTTGTATTCACCATGTGTTATTTTTATAACAAATATATTTGTTTGTCAACCAGGCAGTGATCATATTGTATAGGCTTTTTTTTTTTTCTTTGAGATGGAGTCTCTCTCTGTCACCCAAGCTGGAGTACAGTGGTGCGATCTCAGCTCACTGCAAGCTCTGCCTCCCGGGTTCACACCATTCTCCTGCCTCAGCCTCCCGATTAGCTGGGACTACAGGCGCCTGCCACCACACCCGGT... | CCTCCCGGGTTCAGGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCTACCACCATGCCTGGCTAATATTTTGTATTCACCATGTGTTATTTTTATAACAAATATATTTGTTTGTCAACCAGGCAGTGATCATATTGTATAGGCTTTTTTTTTTTTCTTTGAGATGGAGTCTCTCTCTGTCACCCAAGCTGGAGTACAGTGGTGCGATCTCAGCTCACTGCAAGCTCTGCCTCCCGGGTTCACACCATTCTCCTGCCTCAGCCTCCCGATTAGCTGGGACTACAGGCGCCTGCCACCACACCCGGT... | pathogenic | 150,647 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 9, position 127825303, gene ENG (endoglin). What disease(s) is it linked to if pathogenic? | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_hemorrhagic_telangiectasia'] | CCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCTACCACCATGCCTGGCTAATATTTTGTATTCACCATGTGTTATTTTTATAACAAATATATTTGTTTGTCAACCAGGCAGTGATCATATTGTATAGGCTTTTTTTTTTTTCTTTGAGATGGAGTCTCTCTCTGTCACCCAAGCTGGAGTACAGTGGTGCGATCTCAGCTCACTGCAAGCTCTGCCTCCCGGGTTCACACCATTCTCCTGCCTCAGCCTCCCGATTAGCTGGGACTACAGGCGCCTGCCACCACACCCGGTTAATTTTTTGTATTTTTAGTAG... | CCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCTACCACCATGCCTGGCTAATATTTTGTATTCACCATGTGTTATTTTTATAACAAATATATTTGTTTGTCAACCAGGCAGTGATCATATTGTATAGGCTTTTTTTTTTTTCTTTGAGATGGAGTCTCTCTCTGTCACCCAAGCTGGAGTACAGTGGTGCGATCTCAGCTCACTGCAAGCTCTGCCTCCCGGGTTCACACCATTCTCCTGCCTCAGCCTCCCGATTAGCTGGGACTACAGGCGCCTGCCACCACACCCGGTTAATTTTTTGTATTTTTAGTAG... | pathogenic | 150,651 |
Considering the genetic mutation at chromosome 9, position 127825310, impacting ENG (endoglin): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Telangiectasia,_hereditary_hemorrhagic,_type_1'] | CAGCCTCCCAAGTAGCTGGGACTACAGGCGCCTACCACCATGCCTGGCTAATATTTTGTATTCACCATGTGTTATTTTTATAACAAATATATTTGTTTGTCAACCAGGCAGTGATCATATTGTATAGGCTTTTTTTTTTTTCTTTGAGATGGAGTCTCTCTCTGTCACCCAAGCTGGAGTACAGTGGTGCGATCTCAGCTCACTGCAAGCTCTGCCTCCCGGGTTCACACCATTCTCCTGCCTCAGCCTCCCGATTAGCTGGGACTACAGGCGCCTGCCACCACACCCGGTTAATTTTTTGTATTTTTAGTAGGGACAGG... | CAGCCTCCCAAGTAGCTGGGACTACAGGCGCCTACCACCATGCCTGGCTAATATTTTGTATTCACCATGTGTTATTTTTATAACAAATATATTTGTTTGTCAACCAGGCAGTGATCATATTGTATAGGCTTTTTTTTTTTTCTTTGAGATGGAGTCTCTCTCTGTCACCCAAGCTGGAGTACAGTGGTGCGATCTCAGCTCACTGCAAGCTCTGCCTCCCGGGTTCACACCATTCTCCTGCCTCAGCCTCCCGATTAGCTGGGACTACAGGCGCCTGCCACCACACCCGGTTAATTTTTTGTATTTTTAGTAGGGACAGG... | pathogenic | 150,652 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 9, position 127825321, gene ENG (endoglin). What disease(s) is it linked to if pathogenic? | pathogenic; ['Cardiovascular_phenotype', 'ENG-related_disorder', 'Hereditary_hemorrhagic_telangiectasia', 'Telangiectasia,_hereditary_hemorrhagic,_type_1'] | GTAGCTGGGACTACAGGCGCCTACCACCATGCCTGGCTAATATTTTGTATTCACCATGTGTTATTTTTATAACAAATATATTTGTTTGTCAACCAGGCAGTGATCATATTGTATAGGCTTTTTTTTTTTTCTTTGAGATGGAGTCTCTCTCTGTCACCCAAGCTGGAGTACAGTGGTGCGATCTCAGCTCACTGCAAGCTCTGCCTCCCGGGTTCACACCATTCTCCTGCCTCAGCCTCCCGATTAGCTGGGACTACAGGCGCCTGCCACCACACCCGGTTAATTTTTTGTATTTTTAGTAGGGACAGGGTTTCACTGTG... | GTAGCTGGGACTACAGGCGCCTACCACCATGCCTGGCTAATATTTTGTATTCACCATGTGTTATTTTTATAACAAATATATTTGTTTGTCAACCAGGCAGTGATCATATTGTATAGGCTTTTTTTTTTTTCTTTGAGATGGAGTCTCTCTCTGTCACCCAAGCTGGAGTACAGTGGTGCGATCTCAGCTCACTGCAAGCTCTGCCTCCCGGGTTCACACCATTCTCCTGCCTCAGCCTCCCGATTAGCTGGGACTACAGGCGCCTGCCACCACACCCGGTTAATTTTTTGTATTTTTAGTAGGGACAGGGTTTCACTGTG... | pathogenic | 150,656 |
Gene ENG (endoglin) variant at chromosome 9, position 127825331—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_hemorrhagic_telangiectasia'] | CTACAGGCGCCTACCACCATGCCTGGCTAATATTTTGTATTCACCATGTGTTATTTTTATAACAAATATATTTGTTTGTCAACCAGGCAGTGATCATATTGTATAGGCTTTTTTTTTTTTCTTTGAGATGGAGTCTCTCTCTGTCACCCAAGCTGGAGTACAGTGGTGCGATCTCAGCTCACTGCAAGCTCTGCCTCCCGGGTTCACACCATTCTCCTGCCTCAGCCTCCCGATTAGCTGGGACTACAGGCGCCTGCCACCACACCCGGTTAATTTTTTGTATTTTTAGTAGGGACAGGGTTTCACTGTGTTAGCCAGGA... | CTACAGGCGCCTACCACCATGCCTGGCTAATATTTTGTATTCACCATGTGTTATTTTTATAACAAATATATTTGTTTGTCAACCAGGCAGTGATCATATTGTATAGGCTTTTTTTTTTTTCTTTGAGATGGAGTCTCTCTCTGTCACCCAAGCTGGAGTACAGTGGTGCGATCTCAGCTCACTGCAAGCTCTGCCTCCCGGGTTCACACCATTCTCCTGCCTCAGCCTCCCGATTAGCTGGGACTACAGGCGCCTGCCACCACACCCGGTTAATTTTTTGTATTTTTAGTAGGGACAGGGTTTCACTGTGTTAGCCAGGA... | pathogenic | 150,658 |
Benign or pathogenic: chromosome 9, position 127825709, gene ENG (endoglin) variant? Disease(s) if pathogenic? | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_hemorrhagic_telangiectasia'] | TACAGGCACCGGCTTTTTTTTTTTTTTTTTTTTTTTTCTGAGACAGAGTCTCACTCTGTTGCCCAGGCTGAAGTTTAGTGGTGTGATCTCGGCTCACTGCAGCCTCTGCCTCCTGGGTTCAAGCGATTCTTGTTCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTGTGTCCCATCACCTCTGGCTAATTTTTGTATTTTAGTAAAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCCACCCATCTTGGCCTCCCAAAGTGCTGAGATTACAGGCGTGAACCACCATGCCTGGCC... | TACAGGCACCGGCTTTTTTTTTTTTTTTTTTTTTTTTCTGAGACAGAGTCTCACTCTGTTGCCCAGGCTGAAGTTTAGTGGTGTGATCTCGGCTCACTGCAGCCTCTGCCTCCTGGGTTCAAGCGATTCTTGTTCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTGTGTCCCATCACCTCTGGCTAATTTTTGTATTTTAGTAAAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCCACCCATCTTGGCCTCCCAAAGTGCTGAGATTACAGGCGTGAACCACCATGCCTGGCC... | pathogenic | 150,671 |
Variant at chromosome 9, position 127825729, gene ENG (endoglin): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_hemorrhagic_telangiectasia'] | TTTTTTTTTTTTTTTTTCTGAGACAGAGTCTCACTCTGTTGCCCAGGCTGAAGTTTAGTGGTGTGATCTCGGCTCACTGCAGCCTCTGCCTCCTGGGTTCAAGCGATTCTTGTTCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTGTGTCCCATCACCTCTGGCTAATTTTTGTATTTTAGTAAAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCCACCCATCTTGGCCTCCCAAAGTGCTGAGATTACAGGCGTGAACCACCATGCCTGGCCTGTGTAGGTATTCTGCTAAG... | TTTTTTTTTTTTTTTTTCTGAGACAGAGTCTCACTCTGTTGCCCAGGCTGAAGTTTAGTGGTGTGATCTCGGCTCACTGCAGCCTCTGCCTCCTGGGTTCAAGCGATTCTTGTTCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTGTGTCCCATCACCTCTGGCTAATTTTTGTATTTTAGTAAAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCCACCCATCTTGGCCTCCCAAAGTGCTGAGATTACAGGCGTGAACCACCATGCCTGGCCTGTGTAGGTATTCTGCTAAG... | pathogenic | 150,677 |
For chromosome 9, position 127825740, gene ENG (endoglin): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_hemorrhagic_telangiectasia', 'Telangiectasia,_hereditary_hemorrhagic,_type_1'] | TTTTTTCTGAGACAGAGTCTCACTCTGTTGCCCAGGCTGAAGTTTAGTGGTGTGATCTCGGCTCACTGCAGCCTCTGCCTCCTGGGTTCAAGCGATTCTTGTTCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTGTGTCCCATCACCTCTGGCTAATTTTTGTATTTTAGTAAAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCCACCCATCTTGGCCTCCCAAAGTGCTGAGATTACAGGCGTGAACCACCATGCCTGGCCTGTGTAGGTATTCTGCTAAGTGACCAGCCAG... | TTTTTTCTGAGACAGAGTCTCACTCTGTTGCCCAGGCTGAAGTTTAGTGGTGTGATCTCGGCTCACTGCAGCCTCTGCCTCCTGGGTTCAAGCGATTCTTGTTCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTGTGTCCCATCACCTCTGGCTAATTTTTGTATTTTAGTAAAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCCACCCATCTTGGCCTCCCAAAGTGCTGAGATTACAGGCGTGAACCACCATGCCTGGCCTGTGTAGGTATTCTGCTAAGTGACCAGCCAG... | pathogenic | 150,680 |
Clinical impact (benign or pathogenic) of the variant at chromosome 9, location 127825766, gene ENG (endoglin): what disease(s) if pathogenic? | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_hemorrhagic_telangiectasia'] | GTTGCCCAGGCTGAAGTTTAGTGGTGTGATCTCGGCTCACTGCAGCCTCTGCCTCCTGGGTTCAAGCGATTCTTGTTCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTGTGTCCCATCACCTCTGGCTAATTTTTGTATTTTAGTAAAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCCACCCATCTTGGCCTCCCAAAGTGCTGAGATTACAGGCGTGAACCACCATGCCTGGCCTGTGTAGGTATTCTGCTAAGTGACCAGCCAGCTCAGGGAGCATTTAGGATTAATAAT... | GTTGCCCAGGCTGAAGTTTAGTGGTGTGATCTCGGCTCACTGCAGCCTCTGCCTCCTGGGTTCAAGCGATTCTTGTTCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTGTGTCCCATCACCTCTGGCTAATTTTTGTATTTTAGTAAAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCCACCCATCTTGGCCTCCCAAAGTGCTGAGATTACAGGCGTGAACCACCATGCCTGGCCTGTGTAGGTATTCTGCTAAGTGACCAGCCAGCTCAGGGAGCATTTAGGATTAATAAT... | pathogenic | 150,686 |
For chromosome 9, position 127825787, gene ENG (endoglin): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['ENG-related_disorder', 'Hereditary_hemorrhagic_telangiectasia'] | TGGTGTGATCTCGGCTCACTGCAGCCTCTGCCTCCTGGGTTCAAGCGATTCTTGTTCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTGTGTCCCATCACCTCTGGCTAATTTTTGTATTTTAGTAAAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCCACCCATCTTGGCCTCCCAAAGTGCTGAGATTACAGGCGTGAACCACCATGCCTGGCCTGTGTAGGTATTCTGCTAAGTGACCAGCCAGCTCAGGGAGCATTTAGGATTAATAATGACAACTACCTAGTGCTGGCA... | TGGTGTGATCTCGGCTCACTGCAGCCTCTGCCTCCTGGGTTCAAGCGATTCTTGTTCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTGTGTCCCATCACCTCTGGCTAATTTTTGTATTTTAGTAAAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCCACCCATCTTGGCCTCCCAAAGTGCTGAGATTACAGGCGTGAACCACCATGCCTGGCCTGTGTAGGTATTCTGCTAAGTGACCAGCCAGCTCAGGGAGCATTTAGGATTAATAATGACAACTACCTAGTGCTGGCA... | pathogenic | 150,691 |
Gene mutation in ENG (endoglin) at chromosome 9, position 127825788—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_hemorrhagic_telangiectasia'] | GGTGTGATCTCGGCTCACTGCAGCCTCTGCCTCCTGGGTTCAAGCGATTCTTGTTCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTGTGTCCCATCACCTCTGGCTAATTTTTGTATTTTAGTAAAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCCACCCATCTTGGCCTCCCAAAGTGCTGAGATTACAGGCGTGAACCACCATGCCTGGCCTGTGTAGGTATTCTGCTAAGTGACCAGCCAGCTCAGGGAGCATTTAGGATTAATAATGACAACTACCTAGTGCTGGCAT... | GGTGTGATCTCGGCTCACTGCAGCCTCTGCCTCCTGGGTTCAAGCGATTCTTGTTCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTGTGTCCCATCACCTCTGGCTAATTTTTGTATTTTAGTAAAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCCACCCATCTTGGCCTCCCAAAGTGCTGAGATTACAGGCGTGAACCACCATGCCTGGCCTGTGTAGGTATTCTGCTAAGTGACCAGCCAGCTCAGGGAGCATTTAGGATTAATAATGACAACTACCTAGTGCTGGCAT... | pathogenic | 150,692 |
Classify the chromosome 9 variant at position 127825801 affecting gene ENG (endoglin) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_hemorrhagic_telangiectasia'] | CTCACTGCAGCCTCTGCCTCCTGGGTTCAAGCGATTCTTGTTCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTGTGTCCCATCACCTCTGGCTAATTTTTGTATTTTAGTAAAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCCACCCATCTTGGCCTCCCAAAGTGCTGAGATTACAGGCGTGAACCACCATGCCTGGCCTGTGTAGGTATTCTGCTAAGTGACCAGCCAGCTCAGGGAGCATTTAGGATTAATAATGACAACTACCTAGTGCTGGCATTATTTACTAAGCA... | CTCACTGCAGCCTCTGCCTCCTGGGTTCAAGCGATTCTTGTTCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTGTGTCCCATCACCTCTGGCTAATTTTTGTATTTTAGTAAAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCCACCCATCTTGGCCTCCCAAAGTGCTGAGATTACAGGCGTGAACCACCATGCCTGGCCTGTGTAGGTATTCTGCTAAGTGACCAGCCAGCTCAGGGAGCATTTAGGATTAATAATGACAACTACCTAGTGCTGGCATTATTTACTAAGCA... | pathogenic | 150,699 |
Does the variant on chromosome 9 at location 127825821 affecting gene ENG (endoglin) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_hemorrhagic_telangiectasia'] | CTGGGTTCAAGCGATTCTTGTTCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTGTGTCCCATCACCTCTGGCTAATTTTTGTATTTTAGTAAAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCCACCCATCTTGGCCTCCCAAAGTGCTGAGATTACAGGCGTGAACCACCATGCCTGGCCTGTGTAGGTATTCTGCTAAGTGACCAGCCAGCTCAGGGAGCATTTAGGATTAATAATGACAACTACCTAGTGCTGGCATTATTTACTAAGCACTTACTATGTACCACATCTT... | CTGGGTTCAAGCGATTCTTGTTCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTGTGTCCCATCACCTCTGGCTAATTTTTGTATTTTAGTAAAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCCACCCATCTTGGCCTCCCAAAGTGCTGAGATTACAGGCGTGAACCACCATGCCTGGCCTGTGTAGGTATTCTGCTAAGTGACCAGCCAGCTCAGGGAGCATTTAGGATTAATAATGACAACTACCTAGTGCTGGCATTATTTACTAAGCACTTACTATGTACCACATCTT... | pathogenic | 150,703 |
Assess the variant on chromosome 9, position 127825825, impacting ENG (endoglin): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_hemorrhagic_telangiectasia', 'Telangiectasia,_hereditary_hemorrhagic,_type_1'] | GTTCAAGCGATTCTTGTTCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTGTGTCCCATCACCTCTGGCTAATTTTTGTATTTTAGTAAAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCCACCCATCTTGGCCTCCCAAAGTGCTGAGATTACAGGCGTGAACCACCATGCCTGGCCTGTGTAGGTATTCTGCTAAGTGACCAGCCAGCTCAGGGAGCATTTAGGATTAATAATGACAACTACCTAGTGCTGGCATTATTTACTAAGCACTTACTATGTACCACATCTTACTG... | GTTCAAGCGATTCTTGTTCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTGTGTCCCATCACCTCTGGCTAATTTTTGTATTTTAGTAAAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCCACCCATCTTGGCCTCCCAAAGTGCTGAGATTACAGGCGTGAACCACCATGCCTGGCCTGTGTAGGTATTCTGCTAAGTGACCAGCCAGCTCAGGGAGCATTTAGGATTAATAATGACAACTACCTAGTGCTGGCATTATTTACTAAGCACTTACTATGTACCACATCTTACTG... | pathogenic | 150,705 |
Is the chromosome 9, position 127826536 variant in ENG (endoglin) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_hemorrhagic_telangiectasia', 'Telangiectasia,_hereditary_hemorrhagic,_type_1'] | TGATCACTGTGTGCCCGCACCAGGCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTTTTGCTCTGTTACCCGGGCTGGAGTGCAGTGGCACGATCTTGGCTCACTGCAACCTCCATCTCCCAGGTTCAAGCGATTCTCAGGCTCTTCTATGATTAGCTACTCCCATTGTTCCCATGTGCAGATGAGAAAAATGAGGCTCAGAGAGGCTGATGTACCTTGCCCAAGCTCACACAGAGGTGCTTCACCAACAGTGTGGCCACTGATCCAAGGGAGGGGAAGGGAAGGGAGGGGCAGGGGAAGGGTGCTCACCGCAGCTG... | TGATCACTGTGTGCCCGCACCAGGCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTTTTGCTCTGTTACCCGGGCTGGAGTGCAGTGGCACGATCTTGGCTCACTGCAACCTCCATCTCCCAGGTTCAAGCGATTCTCAGGCTCTTCTATGATTAGCTACTCCCATTGTTCCCATGTGCAGATGAGAAAAATGAGGCTCAGAGAGGCTGATGTACCTTGCCCAAGCTCACACAGAGGTGCTTCACCAACAGTGTGGCCACTGATCCAAGGGAGGGGAAGGGAAGGGAGGGGCAGGGGAAGGGTGCTCACCGCAGCTG... | pathogenic | 150,719 |
The genetic variant at chromosome 9, position 127826536, affecting gene ENG (endoglin): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Hereditary_hemorrhagic_telangiectasia', 'Telangiectasia,_hereditary_hemorrhagic,_type_1'] | TGATCACTGTGTGCCCGCACCAGGCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTTTTGCTCTGTTACCCGGGCTGGAGTGCAGTGGCACGATCTTGGCTCACTGCAACCTCCATCTCCCAGGTTCAAGCGATTCTCAGGCTCTTCTATGATTAGCTACTCCCATTGTTCCCATGTGCAGATGAGAAAAATGAGGCTCAGAGAGGCTGATGTACCTTGCCCAAGCTCACACAGAGGTGCTTCACCAACAGTGTGGCCACTGATCCAAGGGAGGGGAAGGGAAGGGAGGGGCAGGGGAAGGGTGCTCACCGCAGCTG... | TGATCACTGTGTGCCCGCACCAGGCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTTTTGCTCTGTTACCCGGGCTGGAGTGCAGTGGCACGATCTTGGCTCACTGCAACCTCCATCTCCCAGGTTCAAGCGATTCTCAGGCTCTTCTATGATTAGCTACTCCCATTGTTCCCATGTGCAGATGAGAAAAATGAGGCTCAGAGAGGCTGATGTACCTTGCCCAAGCTCACACAGAGGTGCTTCACCAACAGTGTGGCCACTGATCCAAGGGAGGGGAAGGGAAGGGAGGGGCAGGGGAAGGGTGCTCACCGCAGCTG... | pathogenic | 150,720 |
Regarding the variant at chromosome 9 and position 127826574, affecting gene ENG (endoglin): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_hemorrhagic_telangiectasia'] | TTTTTTTTTTTGAGACGGAGTTTTGCTCTGTTACCCGGGCTGGAGTGCAGTGGCACGATCTTGGCTCACTGCAACCTCCATCTCCCAGGTTCAAGCGATTCTCAGGCTCTTCTATGATTAGCTACTCCCATTGTTCCCATGTGCAGATGAGAAAAATGAGGCTCAGAGAGGCTGATGTACCTTGCCCAAGCTCACACAGAGGTGCTTCACCAACAGTGTGGCCACTGATCCAAGGGAGGGGAAGGGAAGGGAGGGGCAGGGGAAGGGTGCTCACCGCAGCTGGAGGCATGAAGTGAGACAATGCTGGCCAGCGGTAGCTC... | TTTTTTTTTTTGAGACGGAGTTTTGCTCTGTTACCCGGGCTGGAGTGCAGTGGCACGATCTTGGCTCACTGCAACCTCCATCTCCCAGGTTCAAGCGATTCTCAGGCTCTTCTATGATTAGCTACTCCCATTGTTCCCATGTGCAGATGAGAAAAATGAGGCTCAGAGAGGCTGATGTACCTTGCCCAAGCTCACACAGAGGTGCTTCACCAACAGTGTGGCCACTGATCCAAGGGAGGGGAAGGGAAGGGAGGGGCAGGGGAAGGGTGCTCACCGCAGCTGGAGGCATGAAGTGAGACAATGCTGGCCAGCGGTAGCTC... | pathogenic | 150,721 |
A genetic alteration at chromosome 9, position 127826635, in gene ENG (endoglin)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Hereditary_hemorrhagic_telangiectasia'] | TGGCTCACTGCAACCTCCATCTCCCAGGTTCAAGCGATTCTCAGGCTCTTCTATGATTAGCTACTCCCATTGTTCCCATGTGCAGATGAGAAAAATGAGGCTCAGAGAGGCTGATGTACCTTGCCCAAGCTCACACAGAGGTGCTTCACCAACAGTGTGGCCACTGATCCAAGGGAGGGGAAGGGAAGGGAGGGGCAGGGGAAGGGTGCTCACCGCAGCTGGAGGCATGAAGTGAGACAATGCTGGCCAGCGGTAGCTCCACGAAGGATGCCACAATGCTGGCATTGAGCATCCGGGCCTCCCCCAGGAGGCCTTGAGGT... | TGGCTCACTGCAACCTCCATCTCCCAGGTTCAAGCGATTCTCAGGCTCTTCTATGATTAGCTACTCCCATTGTTCCCATGTGCAGATGAGAAAAATGAGGCTCAGAGAGGCTGATGTACCTTGCCCAAGCTCACACAGAGGTGCTTCACCAACAGTGTGGCCACTGATCCAAGGGAGGGGAAGGGAAGGGAGGGGCAGGGGAAGGGTGCTCACCGCAGCTGGAGGCATGAAGTGAGACAATGCTGGCCAGCGGTAGCTCCACGAAGGATGCCACAATGCTGGCATTGAGCATCCGGGCCTCCCCCAGGAGGCCTTGAGGT... | pathogenic | 150,727 |
The mutation in gene ENG (endoglin) at chromosome 9, position 127826635—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Hereditary_hemorrhagic_telangiectasia'] | TGGCTCACTGCAACCTCCATCTCCCAGGTTCAAGCGATTCTCAGGCTCTTCTATGATTAGCTACTCCCATTGTTCCCATGTGCAGATGAGAAAAATGAGGCTCAGAGAGGCTGATGTACCTTGCCCAAGCTCACACAGAGGTGCTTCACCAACAGTGTGGCCACTGATCCAAGGGAGGGGAAGGGAAGGGAGGGGCAGGGGAAGGGTGCTCACCGCAGCTGGAGGCATGAAGTGAGACAATGCTGGCCAGCGGTAGCTCCACGAAGGATGCCACAATGCTGGCATTGAGCATCCGGGCCTCCCCCAGGAGGCCTTGAGGT... | TGGCTCACTGCAACCTCCATCTCCCAGGTTCAAGCGATTCTCAGGCTCTTCTATGATTAGCTACTCCCATTGTTCCCATGTGCAGATGAGAAAAATGAGGCTCAGAGAGGCTGATGTACCTTGCCCAAGCTCACACAGAGGTGCTTCACCAACAGTGTGGCCACTGATCCAAGGGAGGGGAAGGGAAGGGAGGGGCAGGGGAAGGGTGCTCACCGCAGCTGGAGGCATGAAGTGAGACAATGCTGGCCAGCGGTAGCTCCACGAAGGATGCCACAATGCTGGCATTGAGCATCCGGGCCTCCCCCAGGAGGCCTTGAGGT... | pathogenic | 150,728 |
Clinical classification of chromosome 9, position 127826640, gene ENG (endoglin): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['ENG-related_disorder', 'Hereditary_hemorrhagic_telangiectasia'] | CACTGCAACCTCCATCTCCCAGGTTCAAGCGATTCTCAGGCTCTTCTATGATTAGCTACTCCCATTGTTCCCATGTGCAGATGAGAAAAATGAGGCTCAGAGAGGCTGATGTACCTTGCCCAAGCTCACACAGAGGTGCTTCACCAACAGTGTGGCCACTGATCCAAGGGAGGGGAAGGGAAGGGAGGGGCAGGGGAAGGGTGCTCACCGCAGCTGGAGGCATGAAGTGAGACAATGCTGGCCAGCGGTAGCTCCACGAAGGATGCCACAATGCTGGCATTGAGCATCCGGGCCTCCCCCAGGAGGCCTTGAGGTGTGTC... | CACTGCAACCTCCATCTCCCAGGTTCAAGCGATTCTCAGGCTCTTCTATGATTAGCTACTCCCATTGTTCCCATGTGCAGATGAGAAAAATGAGGCTCAGAGAGGCTGATGTACCTTGCCCAAGCTCACACAGAGGTGCTTCACCAACAGTGTGGCCACTGATCCAAGGGAGGGGAAGGGAAGGGAGGGGCAGGGGAAGGGTGCTCACCGCAGCTGGAGGCATGAAGTGAGACAATGCTGGCCAGCGGTAGCTCCACGAAGGATGCCACAATGCTGGCATTGAGCATCCGGGCCTCCCCCAGGAGGCCTTGAGGTGTGTC... | pathogenic | 150,729 |
A mutation at chromosome position 127826640 on chromosome 9 in gene ENG (endoglin): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_hemorrhagic_telangiectasia', 'Telangiectasia,_hereditary_hemorrhagic,_type_1'] | CACTGCAACCTCCATCTCCCAGGTTCAAGCGATTCTCAGGCTCTTCTATGATTAGCTACTCCCATTGTTCCCATGTGCAGATGAGAAAAATGAGGCTCAGAGAGGCTGATGTACCTTGCCCAAGCTCACACAGAGGTGCTTCACCAACAGTGTGGCCACTGATCCAAGGGAGGGGAAGGGAAGGGAGGGGCAGGGGAAGGGTGCTCACCGCAGCTGGAGGCATGAAGTGAGACAATGCTGGCCAGCGGTAGCTCCACGAAGGATGCCACAATGCTGGCATTGAGCATCCGGGCCTCCCCCAGGAGGCCTTGAGGTGTGTC... | CACTGCAACCTCCATCTCCCAGGTTCAAGCGATTCTCAGGCTCTTCTATGATTAGCTACTCCCATTGTTCCCATGTGCAGATGAGAAAAATGAGGCTCAGAGAGGCTGATGTACCTTGCCCAAGCTCACACAGAGGTGCTTCACCAACAGTGTGGCCACTGATCCAAGGGAGGGGAAGGGAAGGGAGGGGCAGGGGAAGGGTGCTCACCGCAGCTGGAGGCATGAAGTGAGACAATGCTGGCCAGCGGTAGCTCCACGAAGGATGCCACAATGCTGGCATTGAGCATCCGGGCCTCCCCCAGGAGGCCTTGAGGTGTGTC... | pathogenic | 150,731 |
Does the variant on chromosome 9 at location 127829684 affecting gene ENG (endoglin) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_hemorrhagic_telangiectasia'] | TTGGATTTAAAAATATTTTTTATTATAATTTTTTAGAGACGAGGGTCTCACTATGTTGCCCAGGCTGGTCTCCAACTCCTGGCCTCAAGAGACCCTCCTGGCCAGGCACAGTGGCTCACGCCTGTAAACCAGCACTTTGGGAGGCCGAGGCGGGTGGATCCCCTGAGGTCAGGAGTTCGAGACCAGCCTAGCCAACACGGTATGAAACACTGTCTCTACTAAAAATACAAAAAATGAGGTGGGGGTGGTGGCAGGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTACTTGAACCCAGAAGGCGAAGG... | TTGGATTTAAAAATATTTTTTATTATAATTTTTTAGAGACGAGGGTCTCACTATGTTGCCCAGGCTGGTCTCCAACTCCTGGCCTCAAGAGACCCTCCTGGCCAGGCACAGTGGCTCACGCCTGTAAACCAGCACTTTGGGAGGCCGAGGCGGGTGGATCCCCTGAGGTCAGGAGTTCGAGACCAGCCTAGCCAACACGGTATGAAACACTGTCTCTACTAAAAATACAAAAAATGAGGTGGGGGTGGTGGCAGGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTACTTGAACCCAGAAGGCGAAGG... | pathogenic | 150,740 |
Does the variant on chromosome 9 at location 127829769 affecting gene ENG (endoglin) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_hemorrhagic_telangiectasia'] | CAAGAGACCCTCCTGGCCAGGCACAGTGGCTCACGCCTGTAAACCAGCACTTTGGGAGGCCGAGGCGGGTGGATCCCCTGAGGTCAGGAGTTCGAGACCAGCCTAGCCAACACGGTATGAAACACTGTCTCTACTAAAAATACAAAAAATGAGGTGGGGGTGGTGGCAGGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTACTTGAACCCAGAAGGCGAAGGTTGCAGTGAGGCGAGATGGGGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCTCAAAAAAAAAAAAAAAAAAAAA... | CAAGAGACCCTCCTGGCCAGGCACAGTGGCTCACGCCTGTAAACCAGCACTTTGGGAGGCCGAGGCGGGTGGATCCCCTGAGGTCAGGAGTTCGAGACCAGCCTAGCCAACACGGTATGAAACACTGTCTCTACTAAAAATACAAAAAATGAGGTGGGGGTGGTGGCAGGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTACTTGAACCCAGAAGGCGAAGGTTGCAGTGAGGCGAGATGGGGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCTCAAAAAAAAAAAAAAAAAAAAA... | pathogenic | 150,754 |
Evaluate this variant at chromosome 9, position 127829807, gene ENG (endoglin): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_hemorrhagic_telangiectasia'] | GTAAACCAGCACTTTGGGAGGCCGAGGCGGGTGGATCCCCTGAGGTCAGGAGTTCGAGACCAGCCTAGCCAACACGGTATGAAACACTGTCTCTACTAAAAATACAAAAAATGAGGTGGGGGTGGTGGCAGGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTACTTGAACCCAGAAGGCGAAGGTTGCAGTGAGGCGAGATGGGGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAGGAGACCCTCCTGCCTCGGCTTACCAAAGTGTTG... | GTAAACCAGCACTTTGGGAGGCCGAGGCGGGTGGATCCCCTGAGGTCAGGAGTTCGAGACCAGCCTAGCCAACACGGTATGAAACACTGTCTCTACTAAAAATACAAAAAATGAGGTGGGGGTGGTGGCAGGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTACTTGAACCCAGAAGGCGAAGGTTGCAGTGAGGCGAGATGGGGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAGGAGACCCTCCTGCCTCGGCTTACCAAAGTGTTG... | pathogenic | 150,760 |
Variant at chromosome 9, position 127829822, gene ENG (endoglin): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_hemorrhagic_telangiectasia'] | GGGAGGCCGAGGCGGGTGGATCCCCTGAGGTCAGGAGTTCGAGACCAGCCTAGCCAACACGGTATGAAACACTGTCTCTACTAAAAATACAAAAAATGAGGTGGGGGTGGTGGCAGGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTACTTGAACCCAGAAGGCGAAGGTTGCAGTGAGGCGAGATGGGGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAGGAGACCCTCCTGCCTCGGCTTACCAAAGTGTTGGGATTACAGACATAA... | GGGAGGCCGAGGCGGGTGGATCCCCTGAGGTCAGGAGTTCGAGACCAGCCTAGCCAACACGGTATGAAACACTGTCTCTACTAAAAATACAAAAAATGAGGTGGGGGTGGTGGCAGGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTACTTGAACCCAGAAGGCGAAGGTTGCAGTGAGGCGAGATGGGGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAGGAGACCCTCCTGCCTCGGCTTACCAAAGTGTTGGGATTACAGACATAA... | pathogenic | 150,767 |
Chromosome 9, position 127843133, gene ENG (endoglin): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | benign | TTCTGTGCTCTTCCACACCACCTCCTTCCTTGGTGAGCTCCTGGACATCCATGATGTTTCTTCCTCCAGGCCCAAGTCTCCTTAGCTTCCAAGATCAGATGAGGTCGGATGTGTTCAGGATGGTGTGGCCGTAACAAGCCATGCCTAATCCCGTAGCAGCTGGAGTGCCCTGGCCCTGTGCCCCGTGAGAATGCACCAGTCCCCTGGATCCTGGCTGGCTATCTACACACCTATCTCCCATAGACCTAGACACCTGCCTAGGGGCCCTCCTCTCACCCTGGCCCAGTATTGAGCAATTAGGGTTGGGGGATCCCAGTCAC... | TTCTGTGCTCTTCCACACCACCTCCTTCCTTGGTGAGCTCCTGGACATCCATGATGTTTCTTCCTCCAGGCCCAAGTCTCCTTAGCTTCCAAGATCAGATGAGGTCGGATGTGTTCAGGATGGTGTGGCCGTAACAAGCCATGCCTAATCCCGTAGCAGCTGGAGTGCCCTGGCCCTGTGCCCCGTGAGAATGCACCAGTCCCCTGGATCCTGGCTGGCTATCTACACACCTATCTCCCATAGACCTAGACACCTGCCTAGGGGCCCTCCTCTCACCCTGGCCCAGTATTGAGCAATTAGGGTTGGGGGATCCCAGTCAC... | benign | 150,780 |
Located at chromosome 9 position 127843148, the variant affecting gene ENG (endoglin)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Hereditary_hemorrhagic_telangiectasia', 'Telangiectasia,_hereditary_hemorrhagic,_type_1'] | CACCACCTCCTTCCTTGGTGAGCTCCTGGACATCCATGATGTTTCTTCCTCCAGGCCCAAGTCTCCTTAGCTTCCAAGATCAGATGAGGTCGGATGTGTTCAGGATGGTGTGGCCGTAACAAGCCATGCCTAATCCCGTAGCAGCTGGAGTGCCCTGGCCCTGTGCCCCGTGAGAATGCACCAGTCCCCTGGATCCTGGCTGGCTATCTACACACCTATCTCCCATAGACCTAGACACCTGCCTAGGGGCCCTCCTCTCACCCTGGCCCAGTATTGAGCAATTAGGGTTGGGGGATCCCAGTCACCCAGAGGAGGCACAG... | CACCACCTCCTTCCTTGGTGAGCTCCTGGACATCCATGATGTTTCTTCCTCCAGGCCCAAGTCTCCTTAGCTTCCAAGATCAGATGAGGTCGGATGTGTTCAGGATGGTGTGGCCGTAACAAGCCATGCCTAATCCCGTAGCAGCTGGAGTGCCCTGGCCCTGTGCCCCGTGAGAATGCACCAGTCCCCTGGATCCTGGCTGGCTATCTACACACCTATCTCCCATAGACCTAGACACCTGCCTAGGGGCCCTCCTCTCACCCTGGCCCAGTATTGAGCAATTAGGGTTGGGGGATCCCAGTCACCCAGAGGAGGCACAG... | pathogenic | 150,783 |
Gene ENG (endoglin) variant at chromosome 9, position 127843179—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Hereditary_hemorrhagic_telangiectasia'] | ATCCATGATGTTTCTTCCTCCAGGCCCAAGTCTCCTTAGCTTCCAAGATCAGATGAGGTCGGATGTGTTCAGGATGGTGTGGCCGTAACAAGCCATGCCTAATCCCGTAGCAGCTGGAGTGCCCTGGCCCTGTGCCCCGTGAGAATGCACCAGTCCCCTGGATCCTGGCTGGCTATCTACACACCTATCTCCCATAGACCTAGACACCTGCCTAGGGGCCCTCCTCTCACCCTGGCCCAGTATTGAGCAATTAGGGTTGGGGGATCCCAGTCACCCAGAGGAGGCACAGGGACCTGAACATTAAAACAAACAATGCGAAC... | ATCCATGATGTTTCTTCCTCCAGGCCCAAGTCTCCTTAGCTTCCAAGATCAGATGAGGTCGGATGTGTTCAGGATGGTGTGGCCGTAACAAGCCATGCCTAATCCCGTAGCAGCTGGAGTGCCCTGGCCCTGTGCCCCGTGAGAATGCACCAGTCCCCTGGATCCTGGCTGGCTATCTACACACCTATCTCCCATAGACCTAGACACCTGCCTAGGGGCCCTCCTCTCACCCTGGCCCAGTATTGAGCAATTAGGGTTGGGGGATCCCAGTCACCCAGAGGAGGCACAGGGACCTGAACATTAAAACAAACAATGCGAAC... | pathogenic | 150,792 |
A genetic variant on chromosome 9, position 127843211, affects the gene ENG (endoglin). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Hereditary_hemorrhagic_telangiectasia'] | TCCTTAGCTTCCAAGATCAGATGAGGTCGGATGTGTTCAGGATGGTGTGGCCGTAACAAGCCATGCCTAATCCCGTAGCAGCTGGAGTGCCCTGGCCCTGTGCCCCGTGAGAATGCACCAGTCCCCTGGATCCTGGCTGGCTATCTACACACCTATCTCCCATAGACCTAGACACCTGCCTAGGGGCCCTCCTCTCACCCTGGCCCAGTATTGAGCAATTAGGGTTGGGGGATCCCAGTCACCCAGAGGAGGCACAGGGACCTGAACATTAAAACAAACAATGCGAACTAACAGAGGCAGTCGTATTTTGAATATCATTA... | TCCTTAGCTTCCAAGATCAGATGAGGTCGGATGTGTTCAGGATGGTGTGGCCGTAACAAGCCATGCCTAATCCCGTAGCAGCTGGAGTGCCCTGGCCCTGTGCCCCGTGAGAATGCACCAGTCCCCTGGATCCTGGCTGGCTATCTACACACCTATCTCCCATAGACCTAGACACCTGCCTAGGGGCCCTCCTCTCACCCTGGCCCAGTATTGAGCAATTAGGGTTGGGGGATCCCAGTCACCCAGAGGAGGCACAGGGACCTGAACATTAAAACAAACAATGCGAACTAACAGAGGCAGTCGTATTTTGAATATCATTA... | pathogenic | 150,798 |
Variant chromosome 9, position 127854292, gene ENG (endoglin): benign or pathogenic? Disease(s)? | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_hemorrhagic_telangiectasia'] | AGGCTGACTACTGAAGGCTGATTTGTGAGGGTATCAAGTCACATGCAAGGTACAGTTTTAGGAGATTCTTACAAGTGGTGCCCCCAAATTCTAGACCCATTTCTAGGAGGTCAGGGTCACTCCGACCCCTACCCCCAGCTGGCTTCCAGGCCCTGGCCCCAGGCTCCCCTCTGCCTTCCATGGGCCTCAGCTTCCCAGACCATAAATGAGTTGGGTTGATGGTCTGTTGTACCTTTGAGCCTGTGACTCCTGGTGCACTGGGACCAGCTCCTACCTGCTCACAGGAACAGACGGATACGTTTCCAGGAGTTTTTCCAACT... | AGGCTGACTACTGAAGGCTGATTTGTGAGGGTATCAAGTCACATGCAAGGTACAGTTTTAGGAGATTCTTACAAGTGGTGCCCCCAAATTCTAGACCCATTTCTAGGAGGTCAGGGTCACTCCGACCCCTACCCCCAGCTGGCTTCCAGGCCCTGGCCCCAGGCTCCCCTCTGCCTTCCATGGGCCTCAGCTTCCCAGACCATAAATGAGTTGGGTTGATGGTCTGTTGTACCTTTGAGCCTGTGACTCCTGGTGCACTGGGACCAGCTCCTACCTGCTCACAGGAACAGACGGATACGTTTCCAGGAGTTTTTCCAACT... | pathogenic | 150,805 |
Variant on chromosome 9, at position 128170117, affecting CIZ1 (CDKN1A interacting zinc finger protein 1): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | benign | CAGAGGCTATGAGCAGCCCCAGCTGGCCCCTCACCACCCTGGACTATAACTGGGTCAGCCTTTGAGGGCAAGGACCAGGCCTTGGCCCTCATGGGTCCCTGCTTCCAGCACCAGGGCCTGACCTAGAACACACTCTCTGGAAACGTGTTAAACTGCAAAGAATCTGGCTGGGCATGGTGGCTCACGCCTGTAATCCCAGCACTTTGGTAGGCCGAGGTGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAATATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCGGGCGTGGTGGTGGGC... | CAGAGGCTATGAGCAGCCCCAGCTGGCCCCTCACCACCCTGGACTATAACTGGGTCAGCCTTTGAGGGCAAGGACCAGGCCTTGGCCCTCATGGGTCCCTGCTTCCAGCACCAGGGCCTGACCTAGAACACACTCTCTGGAAACGTGTTAAACTGCAAAGAATCTGGCTGGGCATGGTGGCTCACGCCTGTAATCCCAGCACTTTGGTAGGCCGAGGTGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAATATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCGGGCGTGGTGGTGGGC... | benign | 150,869 |
Does the chromosome 9 mutation at position 128239524 within gene DNM1 (dynamin 1) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | benign | ATCTCGAACTTGTGAACTTGTGACCTCAAGCGATCTACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCCCGCCCGGCCTGTCCTTGTTCTTTTGAACAGCTGCAGGGTGCTTTCTTGTCTAGAGAGTGTCATAATCTATTTCACCCTCAGATGGCCACTGGCTTGCTCCCAATTTTTCTCTATTACAAACTGTACTACTTTGAATACTCTGGCTCATGTATCTTTGCTCACTTGATGAGTGTATCTGTGAGATACAATTCTGGAAGTGAATATGTGCATTGTTTGTTTGTTTGTTTGTTTTGAGA... | ATCTCGAACTTGTGAACTTGTGACCTCAAGCGATCTACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCCCGCCCGGCCTGTCCTTGTTCTTTTGAACAGCTGCAGGGTGCTTTCTTGTCTAGAGAGTGTCATAATCTATTTCACCCTCAGATGGCCACTGGCTTGCTCCCAATTTTTCTCTATTACAAACTGTACTACTTTGAATACTCTGGCTCATGTATCTTTGCTCACTTGATGAGTGTATCTGTGAGATACAATTCTGGAAGTGAATATGTGCATTGTTTGTTTGTTTGTTTGTTTTGAGA... | benign | 150,969 |
Chromosome 9, position 128322879, gene COQ4 (coenzyme Q4): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Neonatal_encephalomyopathy-cardiomyopathy-respiratory_distress_syndrome', 'Spastic_ataxia_10,_autosomal_recessive'] | CAGGCTGGCGTGCAGTGGCACAATTTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGCAACTGGGACTACAGGCGCCTGCCACCACTCCCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCTTGACCTCATGATCCACCCTCCTCGGCCTCTCAAAATGCTGGGATTACAGGCGTGAGCCACCACGCCTAGCTAGATTACTTATAATGCCTAATATAATGCCTATGCATCACCTTGAGTGGATTCAACACAGTACTA... | CAGGCTGGCGTGCAGTGGCACAATTTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGCAACTGGGACTACAGGCGCCTGCCACCACTCCCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCTTGACCTCATGATCCACCCTCCTCGGCCTCTCAAAATGCTGGGATTACAGGCGTGAGCCACCACGCCTAGCTAGATTACTTATAATGCCTAATATAATGCCTATGCATCACCTTGAGTGGATTCAACACAGTACTA... | pathogenic | 151,022 |
Mutation found at chromosome 9 position 128353100, gene SLC27A4 (solute carrier family 27 member 4): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Ichthyosis_prematurity_syndrome'] | CACTGCACTCCAGCCTGGGCAACAGTACAAGACTCTGTCTCGGAAAAAAAAAAAAGAAAGAAATTATCTGGGTGTGGTGGCGTGTGCCTGTAGTCCCAGCTATCTGTGAGGCTGAGGCACGAGAATTGCTTGAACCTGGGAGGCAAAGGTTGCAGTGAGCTGAGATCACGCCACTGCATTCCAGCCTGGGCAACAGAGCGAGACACTGTCTCAAAAAAAAAAAAAATTAGCTGGGTCTGGTGGCGTGTGCCTGTAATCCCAGCTACCTGTGAGGCTGAGGCATGAGAATTGCTTGAACCTGGGAGGCAAAGGTTGCAGTG... | CACTGCACTCCAGCCTGGGCAACAGTACAAGACTCTGTCTCGGAAAAAAAAAAAAGAAAGAAATTATCTGGGTGTGGTGGCGTGTGCCTGTAGTCCCAGCTATCTGTGAGGCTGAGGCACGAGAATTGCTTGAACCTGGGAGGCAAAGGTTGCAGTGAGCTGAGATCACGCCACTGCATTCCAGCCTGGGCAACAGAGCGAGACACTGTCTCAAAAAAAAAAAAAATTAGCTGGGTCTGGTGGCGTGTGCCTGTAATCCCAGCTACCTGTGAGGCTGAGGCATGAGAATTGCTTGAACCTGGGAGGCAAAGGTTGCAGTG... | pathogenic | 151,073 |
Variant in SLC27A4 (solute carrier family 27 member 4), chromosome 9, position 128360355—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Ichthyosis_prematurity_syndrome'] | CTAGGTTTCTGCTGTCCAACACAGTAGCCACTAGCCTGGCAGAGCTACTGAGCACTTGAAAGGTGGCTGCTGGCTGGACGCCGTGGCTCACGCCTGTAATCCCAACACTTTGGGATTAAATTTTGTTTAATTAACTTAAATTTATTTATTTATTTGAGATGGAGTCTTGCTCTATCGCCCAGGCCGGAGTGCAGTGGTGCAATCTCAGCTCACTGCAACCTTTGCCTCCTGGGTTCAAGTGATTCTCCTGTCTCAGCGTCCCCAGTAGCTGGGATTACAGGCACGTGCCACCACACCTGGCTAATTTTTGTATTTTTTTT... | CTAGGTTTCTGCTGTCCAACACAGTAGCCACTAGCCTGGCAGAGCTACTGAGCACTTGAAAGGTGGCTGCTGGCTGGACGCCGTGGCTCACGCCTGTAATCCCAACACTTTGGGATTAAATTTTGTTTAATTAACTTAAATTTATTTATTTATTTGAGATGGAGTCTTGCTCTATCGCCCAGGCCGGAGTGCAGTGGTGCAATCTCAGCTCACTGCAACCTTTGCCTCCTGGGTTCAAGTGATTCTCCTGTCTCAGCGTCCCCAGTAGCTGGGATTACAGGCACGTGCCACCACACCTGGCTAATTTTTGTATTTTTTTT... | pathogenic | 151,079 |
Determine whether the variant at chromosome 9, position 128515490, in gene GLE1 (GLE1 RNA export mediator) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | benign | ATAAAAAAGCTGGGTGTGGAATCCCAGGACTTTGGGAGGCCAAGGCAGGTGGAACATTTGAGCTCAGGCATTCGAGACTAGCCTGCGCAACATGGGGAAACTCCATATTTACAAAAAAATTACCTGAACATGATGGCTCATGCCTACGGTCCCAGCTACTCAGAAGGCTGAGGTAGGAGGATCCTTGATCCTGGAAGGTCATGGCTGCAGTGAGCCTAGATAGCACGACTGTATGCCAGCACGGGTGATAGAGTAAGACCCTGTCTCAAAAAAAAAAAAAAGAAAAGAAAAAAGGCGGGGTGCGGTGGCTCACGCCTGTA... | ATAAAAAAGCTGGGTGTGGAATCCCAGGACTTTGGGAGGCCAAGGCAGGTGGAACATTTGAGCTCAGGCATTCGAGACTAGCCTGCGCAACATGGGGAAACTCCATATTTACAAAAAAATTACCTGAACATGATGGCTCATGCCTACGGTCCCAGCTACTCAGAAGGCTGAGGTAGGAGGATCCTTGATCCTGGAAGGTCATGGCTGCAGTGAGCCTAGATAGCACGACTGTATGCCAGCACGGGTGATAGAGTAAGACCCTGTCTCAAAAAAAAAAAAAAGAAAAGAAAAAAGGCGGGGTGCGGTGGCTCACGCCTGTA... | benign | 151,085 |
Evaluate this variant at chromosome 9, position 128515561, gene GLE1 (GLE1 RNA export mediator): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Lethal_arthrogryposis-anterior_horn_cell_disease_syndrome', 'Lethal_congenital_contracture_syndrome_1'] | TCGAGACTAGCCTGCGCAACATGGGGAAACTCCATATTTACAAAAAAATTACCTGAACATGATGGCTCATGCCTACGGTCCCAGCTACTCAGAAGGCTGAGGTAGGAGGATCCTTGATCCTGGAAGGTCATGGCTGCAGTGAGCCTAGATAGCACGACTGTATGCCAGCACGGGTGATAGAGTAAGACCCTGTCTCAAAAAAAAAAAAAAGAAAAGAAAAAAGGCGGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGAAGGCCAAGGCGGGTGGATCACGAGGTCAAGAGATCAAGACCATCCTGGCTAACAT... | TCGAGACTAGCCTGCGCAACATGGGGAAACTCCATATTTACAAAAAAATTACCTGAACATGATGGCTCATGCCTACGGTCCCAGCTACTCAGAAGGCTGAGGTAGGAGGATCCTTGATCCTGGAAGGTCATGGCTGCAGTGAGCCTAGATAGCACGACTGTATGCCAGCACGGGTGATAGAGTAAGACCCTGTCTCAAAAAAAAAAAAAAGAAAAGAAAAAAGGCGGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGAAGGCCAAGGCGGGTGGATCACGAGGTCAAGAGATCAAGACCATCCTGGCTAACAT... | pathogenic | 151,086 |
Is the genetic variant on chromosome 9, position 128515633, gene GLE1 (GLE1 RNA export mediator), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Lethal_arthrogryposis-anterior_horn_cell_disease_syndrome', 'Lethal_congenital_contracture_syndrome_1'] | CTACGGTCCCAGCTACTCAGAAGGCTGAGGTAGGAGGATCCTTGATCCTGGAAGGTCATGGCTGCAGTGAGCCTAGATAGCACGACTGTATGCCAGCACGGGTGATAGAGTAAGACCCTGTCTCAAAAAAAAAAAAAAGAAAAGAAAAAAGGCGGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGAAGGCCAAGGCGGGTGGATCACGAGGTCAAGAGATCAAGACCATCCTGGCTAACATGGTGAAACACCATCTCTACTAAAAATACAAAAAAAATTATCCTGGCGTGGTGGAGGGTTCCTGTAGTCCCAG... | CTACGGTCCCAGCTACTCAGAAGGCTGAGGTAGGAGGATCCTTGATCCTGGAAGGTCATGGCTGCAGTGAGCCTAGATAGCACGACTGTATGCCAGCACGGGTGATAGAGTAAGACCCTGTCTCAAAAAAAAAAAAAAGAAAAGAAAAAAGGCGGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGAAGGCCAAGGCGGGTGGATCACGAGGTCAAGAGATCAAGACCATCCTGGCTAACATGGTGAAACACCATCTCTACTAAAAATACAAAAAAAATTATCCTGGCGTGGTGGAGGGTTCCTGTAGTCCCAG... | pathogenic | 151,088 |
Considering the genetic mutation at chromosome 9, position 128527245, impacting GLE1 (GLE1 RNA export mediator): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Lethal_arthrogryposis-anterior_horn_cell_disease_syndrome', 'Lethal_congenital_contracture_syndrome_1'] | CTATCCCACAGCAGAGAGTCAAGCTGAGGCTGAGCGAGCTCTGCGGGAAATGCGGGACCTCCTGATGAACTTGGGGCAGGAGATCACCAGAGCCTGCGAAGACAAGAGGAGGCAGGATGAAGAAGAGGCCCAGGTAAAGCTGCAAGAGGCACAGATGCAGCAGGGACCAGAGGCCCACAAAGAGCCCCCAGCTCCCAGCCAGGGCCCAGGAGGGAAACAGAATGAAGGTGGGTTTCAGTATGGATGTGGTCCTTTAACTCGTAAGTTTCAAATGTGAAGAGAAACAAGAGCATGTTTTGAATGTTGTGTTAAACTGTAGG... | CTATCCCACAGCAGAGAGTCAAGCTGAGGCTGAGCGAGCTCTGCGGGAAATGCGGGACCTCCTGATGAACTTGGGGCAGGAGATCACCAGAGCCTGCGAAGACAAGAGGAGGCAGGATGAAGAAGAGGCCCAGGTAAAGCTGCAAGAGGCACAGATGCAGCAGGGACCAGAGGCCCACAAAGAGCCCCCAGCTCCCAGCCAGGGCCCAGGAGGGAAACAGAATGAAGGTGGGTTTCAGTATGGATGTGGTCCTTTAACTCGTAAGTTTCAAATGTGAAGAGAAACAAGAGCATGTTTTGAATGTTGTGTTAAACTGTAGG... | pathogenic | 151,097 |
Mutation found at chromosome 9 position 128578092, gene SPTAN1 (spectrin alpha, non-erythrocytic 1): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | benign | GAAATATCTCACCCTTCCACAGTGACAGATGTGTTGCTTTTCCAAACCCTAAGCTTTCCTGCGGTTGAGCTTGAGAAAAGTAGTCAGGCCAAACCCATGGTATCCCAGATGGATTCAAGAACCCTGAAATGCTTCATTTTATTACTTTGTATCATATTTTTTAAAACACCAAAATGTGGTTGGTAGGGAAGGATACTTTTAAAGAAATGTCTCTAAGCTTGATGCAGTGGCACCTGCCTATAGACCCAGCTACTCTACTCAGACTCAGGCTGACAAGACAGGATCACTTGAGACCAGCCTGGGTAACATAGCAAGACCCT... | GAAATATCTCACCCTTCCACAGTGACAGATGTGTTGCTTTTCCAAACCCTAAGCTTTCCTGCGGTTGAGCTTGAGAAAAGTAGTCAGGCCAAACCCATGGTATCCCAGATGGATTCAAGAACCCTGAAATGCTTCATTTTATTACTTTGTATCATATTTTTTAAAACACCAAAATGTGGTTGGTAGGGAAGGATACTTTTAAAGAAATGTCTCTAAGCTTGATGCAGTGGCACCTGCCTATAGACCCAGCTACTCTACTCAGACTCAGGCTGACAAGACAGGATCACTTGAGACCAGCCTGGGTAACATAGCAAGACCCT... | benign | 151,157 |
The genetic variant at chromosome 9, position 128593053, affecting gene SPTAN1 (spectrin alpha, non-erythrocytic 1): benign or pathogenic? Disease name(s) if pathogenic? | benign | CAGGTGAGGAAGGGACTGAATTATCAGACCTTATAGAAAGTGATTTTAATATCATTTTGGACCTTTTTTTTTTATGAGACAGAGTCTCGCTCTGACGCCCAGGCTGGAGTGCAGTGGCGCAATCTCAGCTCACTGCAAGCTCTGCCTCCTGGGTTCATGCCATTCTCCTGCATCAGCCTCCCGAGTAGCTGGGGCTACAGGTGCCCACCACCATGTCCAGCTAATTTTTTTTGTATCTTTTTTAGTAGAGACGGGGTTTCACTGTGTTGGCCAGGATGGTCTCCATCTCCTGACCTCGTAATCCACCCGCCTCGGTCTCC... | CAGGTGAGGAAGGGACTGAATTATCAGACCTTATAGAAAGTGATTTTAATATCATTTTGGACCTTTTTTTTTTATGAGACAGAGTCTCGCTCTGACGCCCAGGCTGGAGTGCAGTGGCGCAATCTCAGCTCACTGCAAGCTCTGCCTCCTGGGTTCATGCCATTCTCCTGCATCAGCCTCCCGAGTAGCTGGGGCTACAGGTGCCCACCACCATGTCCAGCTAATTTTTTTTGTATCTTTTTTAGTAGAGACGGGGTTTCACTGTGTTGGCCAGGATGGTCTCCATCTCCTGACCTCGTAATCCACCCGCCTCGGTCTCC... | benign | 151,256 |
Clinical impact (benign or pathogenic) of the variant at chromosome 9, location 128611861, gene SPTAN1 (spectrin alpha, non-erythrocytic 1): what disease(s) if pathogenic? | benign | ATTCAAGTGTCCCTGTGGGATGTGGCTTTTTCTGTTGTAATTAGCCTGCAACGCCTTACTCCCCCTTCTCTCCCCCAGTTTATCACTTAGGCAAATTCTGTACAGTGTTTGATTTGCGGGGCAGTAATTGACCATTTTCTTTCAAGGAGTGCTTCCTTTTGAAGATGGAACATCAGCTTCAGCTTTTTCTGTGTAGACATTGGCTCAGACTTGCTATGAGCTCATGGTGTTCGGTGGCCTGGGTTGGGGAGGCCAGTCTGGTGTGAGGGTTTTAATGCATACCCACTCTGGCATCCAGAGGTGCCAGTCAGGAGAGGAAC... | ATTCAAGTGTCCCTGTGGGATGTGGCTTTTTCTGTTGTAATTAGCCTGCAACGCCTTACTCCCCCTTCTCTCCCCCAGTTTATCACTTAGGCAAATTCTGTACAGTGTTTGATTTGCGGGGCAGTAATTGACCATTTTCTTTCAAGGAGTGCTTCCTTTTGAAGATGGAACATCAGCTTCAGCTTTTTCTGTGTAGACATTGGCTCAGACTTGCTATGAGCTCATGGTGTTCGGTGGCCTGGGTTGGGGAGGCCAGTCTGGTGTGAGGGTTTTAATGCATACCCACTCTGGCATCCAGAGGTGCCAGTCAGGAGAGGAAC... | benign | 151,329 |
Does the variant on chromosome 9 at location 128617627 affecting gene SPTAN1 (spectrin alpha, non-erythrocytic 1) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | benign | GCAGATAGCTGTGGGAGACCCAGTTTCTGACCCTCTTATGTCCCCTGCCCCAGGATCGCCTGAAGGACCTGAACAGCCAGGCAGACAGCCTGATGACCAGCAGTGCCTTCGACACCTCCCAAGTAAAGGACAAGAGGGACACCATCAACGGGCGCTTCCAGAAGATCAAGAGCATGGCGGCCTCCCGGCGAGCCAAGCTGAATGAATCCCATCGCCTGCACCAGTTCTTCCGGGACATGGATGACGAGGAGTCCTGGATCAAGTATGTCTTCTCAGCCCTCTAGAAGGCCCCTTACGCCTGTAATAGTGGGCAGCAGGAA... | GCAGATAGCTGTGGGAGACCCAGTTTCTGACCCTCTTATGTCCCCTGCCCCAGGATCGCCTGAAGGACCTGAACAGCCAGGCAGACAGCCTGATGACCAGCAGTGCCTTCGACACCTCCCAAGTAAAGGACAAGAGGGACACCATCAACGGGCGCTTCCAGAAGATCAAGAGCATGGCGGCCTCCCGGCGAGCCAAGCTGAATGAATCCCATCGCCTGCACCAGTTCTTCCGGGACATGGATGACGAGGAGTCCTGGATCAAGTATGTCTTCTCAGCCCTCTAGAAGGCCCCTTACGCCTGTAATAGTGGGCAGCAGGAA... | benign | 151,352 |
Considering the variant on chromosome 9, location 128625127, involving gene SPTAN1 (spectrin alpha, non-erythrocytic 1), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Early_infantile_epileptic_encephalopathy_with_suppression_bursts', 'SPTAN1-related_disorder'] | GAGTCTTGCTCTTGTCGCCCAGGCTGGAGTGTAGTGGCACGATCTCGGCTCACTGTAGCCTCTGCCTCCCGGGTTTCAGCAGTTCTCCCACCTGAGCTTCCCTAGCTAGCTGGGACCACAGGTGGGTGTCAACACACCTGGCTAATTTCTTTCTTTTTTTCTTTTTTTTTTTTAAGAGATGGGGTCTCACTATGTTATGTTGCCCAGGCTGGTCTCCAACTCCTGGGCTCAAGTGATTCTCTCGCCTTGTGCTGAAATTACAGGAGTGAGCCACTGCACCCAGCCCTGTATGTGTAGTATTTTAAGTGATATGATTCAGT... | GAGTCTTGCTCTTGTCGCCCAGGCTGGAGTGTAGTGGCACGATCTCGGCTCACTGTAGCCTCTGCCTCCCGGGTTTCAGCAGTTCTCCCACCTGAGCTTCCCTAGCTAGCTGGGACCACAGGTGGGTGTCAACACACCTGGCTAATTTCTTTCTTTTTTTCTTTTTTTTTTTTAAGAGATGGGGTCTCACTATGTTATGTTGCCCAGGCTGGTCTCCAACTCCTGGGCTCAAGTGATTCTCTCGCCTTGTGCTGAAATTACAGGAGTGAGCCACTGCACCCAGCCCTGTATGTGTAGTATTTTAAGTGATATGATTCAGT... | pathogenic | 151,384 |
Is chromosome 9, position 128625939, gene SPTAN1 (spectrin alpha, non-erythrocytic 1) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Developmental_and_epileptic_encephalopathy,_5', 'Early_infantile_epileptic_encephalopathy_with_suppression_bursts', 'Spastic_paraplegia_91,_autosomal_dominant,_with_or_without_cerebellar_ataxia'] | GCCTGACCAACATGGTGAAACCCCCATCTCTACTAAAAATAATTAGCTGTGCATGGTGGTGTTCGCCTATTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCTCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCGAGATCACGCCACTGCATTCCAGCCTGGGCGACGGAGTGAAATTCACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAGAATTCCTAAAAGTAGAATTGTCAGTACGTGTATTTGTGTGAAGCCTTTGACCGCATTGCTCTTACAAAAGCCTTACCCTATCATTGTTTACCCAGCA... | GCCTGACCAACATGGTGAAACCCCCATCTCTACTAAAAATAATTAGCTGTGCATGGTGGTGTTCGCCTATTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCTCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCGAGATCACGCCACTGCATTCCAGCCTGGGCGACGGAGTGAAATTCACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAGAATTCCTAAAAGTAGAATTGTCAGTACGTGTATTTGTGTGAAGCCTTTGACCGCATTGCTCTTACAAAAGCCTTACCCTATCATTGTTTACCCAGCA... | pathogenic | 151,398 |
Clinical classification of chromosome 9, position 128626781, gene SPTAN1 (spectrin alpha, non-erythrocytic 1): benign or pathogenic? Disease(s) if pathogenic? | benign | AGATGGCATAATGTGACGTCATGGCATGAACAAAGTTGGCACAGCAAAGGCACCACTAGCTGCCCTGGTCAGGGGCGCCACCCAGCTCCTGGGTGAGGGAAAACTGGGTCCGGATATCGGGGTCCACGTGTCCTGGGTAGTAGTAATAGCAACTGAACTAGAAGACGGGCTGCAGGGAGCTCGTCATGGCACAGATGGAGGCCAGGCCTGGGTGCAGGGAGGGGCCTGCTAATGTGGGTTCTGAGGCTGTAGTTAGGAAGATTGGGATTTATCTGTACACAAAAAATGGTTTGTCTGGGTTTTGATGTTTTTCCTTTCTA... | AGATGGCATAATGTGACGTCATGGCATGAACAAAGTTGGCACAGCAAAGGCACCACTAGCTGCCCTGGTCAGGGGCGCCACCCAGCTCCTGGGTGAGGGAAAACTGGGTCCGGATATCGGGGTCCACGTGTCCTGGGTAGTAGTAATAGCAACTGAACTAGAAGACGGGCTGCAGGGAGCTCGTCATGGCACAGATGGAGGCCAGGCCTGGGTGCAGGGAGGGGCCTGCTAATGTGGGTTCTGAGGCTGTAGTTAGGAAGATTGGGATTTATCTGTACACAAAAAATGGTTTGTCTGGGTTTTGATGTTTTTCCTTTCTA... | benign | 151,411 |
Variant in SPTAN1 (spectrin alpha, non-erythrocytic 1), chromosome 9, position 128627367—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | benign | GAGCTTCCAGACTAACTGGGGAAGCAGACACAGAACCAGGCATCTCTGCAGCAGCCTGCTGGGTGCTGACGGGACTGGGCACTGCAGGAGCACTCACTCAGTTTTCAGCAGGCGAGGGTTGAAGGGGCAAGTTCTCCTAAGCGAAATCATGAGGGGTGAATGAAAACGGTCAGGGAGAGAGGCAGGGCGAGTGTTCTGGGCAGAGCTGGCAGGGATCCCTGGGGCGGGAGAGCGGAAGGCTGGGGTCAGGGAGGTGGGAGGAGGCTGCCGCAGTGATCTGCGGTCTGAAGGAGAGCAGGAAAGGGGGCATGTGTGACTGA... | GAGCTTCCAGACTAACTGGGGAAGCAGACACAGAACCAGGCATCTCTGCAGCAGCCTGCTGGGTGCTGACGGGACTGGGCACTGCAGGAGCACTCACTCAGTTTTCAGCAGGCGAGGGTTGAAGGGGCAAGTTCTCCTAAGCGAAATCATGAGGGGTGAATGAAAACGGTCAGGGAGAGAGGCAGGGCGAGTGTTCTGGGCAGAGCTGGCAGGGATCCCTGGGGCGGGAGAGCGGAAGGCTGGGGTCAGGGAGGTGGGAGGAGGCTGCCGCAGTGATCTGCGGTCTGAAGGAGAGCAGGAAAGGGGGCATGTGTGACTGA... | benign | 151,416 |
The chromosome 9, position 128627398 genetic variant in gene SPTAN1 (spectrin alpha, non-erythrocytic 1): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Developmental_and_epileptic_encephalopathy,_5', 'Early_infantile_epileptic_encephalopathy_with_suppression_bursts'] | AGAACCAGGCATCTCTGCAGCAGCCTGCTGGGTGCTGACGGGACTGGGCACTGCAGGAGCACTCACTCAGTTTTCAGCAGGCGAGGGTTGAAGGGGCAAGTTCTCCTAAGCGAAATCATGAGGGGTGAATGAAAACGGTCAGGGAGAGAGGCAGGGCGAGTGTTCTGGGCAGAGCTGGCAGGGATCCCTGGGGCGGGAGAGCGGAAGGCTGGGGTCAGGGAGGTGGGAGGAGGCTGCCGCAGTGATCTGCGGTCTGAAGGAGAGCAGGAAAGGGGGCATGTGTGACTGAGTCTCAGCAGTGTCCAGGTGGACAGTTTGGC... | AGAACCAGGCATCTCTGCAGCAGCCTGCTGGGTGCTGACGGGACTGGGCACTGCAGGAGCACTCACTCAGTTTTCAGCAGGCGAGGGTTGAAGGGGCAAGTTCTCCTAAGCGAAATCATGAGGGGTGAATGAAAACGGTCAGGGAGAGAGGCAGGGCGAGTGTTCTGGGCAGAGCTGGCAGGGATCCCTGGGGCGGGAGAGCGGAAGGCTGGGGTCAGGGAGGTGGGAGGAGGCTGCCGCAGTGATCTGCGGTCTGAAGGAGAGCAGGAAAGGGGGCATGTGTGACTGAGTCTCAGCAGTGTCCAGGTGGACAGTTTGGC... | pathogenic | 151,417 |
A mutation at chromosome position 128627422 on chromosome 9 in gene SPTAN1 (spectrin alpha, non-erythrocytic 1): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Developmental_and_epileptic_encephalopathy,_5', 'Early_infantile_epileptic_encephalopathy_with_suppression_bursts', 'SPTAN1-related_disorder'] | CTGCTGGGTGCTGACGGGACTGGGCACTGCAGGAGCACTCACTCAGTTTTCAGCAGGCGAGGGTTGAAGGGGCAAGTTCTCCTAAGCGAAATCATGAGGGGTGAATGAAAACGGTCAGGGAGAGAGGCAGGGCGAGTGTTCTGGGCAGAGCTGGCAGGGATCCCTGGGGCGGGAGAGCGGAAGGCTGGGGTCAGGGAGGTGGGAGGAGGCTGCCGCAGTGATCTGCGGTCTGAAGGAGAGCAGGAAAGGGGGCATGTGTGACTGAGTCTCAGCAGTGTCCAGGTGGACAGTTTGGCTTGGGCATCTGGGGGACATGCTGG... | CTGCTGGGTGCTGACGGGACTGGGCACTGCAGGAGCACTCACTCAGTTTTCAGCAGGCGAGGGTTGAAGGGGCAAGTTCTCCTAAGCGAAATCATGAGGGGTGAATGAAAACGGTCAGGGAGAGAGGCAGGGCGAGTGTTCTGGGCAGAGCTGGCAGGGATCCCTGGGGCGGGAGAGCGGAAGGCTGGGGTCAGGGAGGTGGGAGGAGGCTGCCGCAGTGATCTGCGGTCTGAAGGAGAGCAGGAAAGGGGGCATGTGTGACTGAGTCTCAGCAGTGTCCAGGTGGACAGTTTGGCTTGGGCATCTGGGGGACATGCTGG... | pathogenic | 151,420 |
Determine whether the variant at chromosome 9, position 128632260, in gene SPTAN1 (spectrin alpha, non-erythrocytic 1) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Developmental_and_epileptic_encephalopathy,_5', 'Early_infantile_epileptic_encephalopathy_with_suppression_bursts', 'Inborn_genetic_diseases', 'SPTAN1-related_disorder', 'Undetermined_early-onset_epileptic_encephalopathy', 'likely other unspecified diseases'] | TAAAAGGAATGTGAGGTTGCCAGGCATTGCTCTCTCTGAGAGAAGGTTCATTCTGAGCTCTCGGCCAGCTGGGAGCAGGCCCCTTTCCTCACTGTCCTTCCACGTTTAGGTCCTGTATGGTGGAAGAGTCGGGGACCCTCGAATCCCAGCTTGAAGCTACCAAAGTAAGTGCCCGTGGGGCTCTGGCCCAGCAGAGACCCTTCACCCAGCCACCCCCCAGGGTACCCCTTCCCTTCCTGGCTTAAAGTCAGGAACCAGATGTGCTATTATTGTACCCTTTTCCCTTGGCCTAAAGCAGTCTAGGGCTCTTCACTATCTCT... | TAAAAGGAATGTGAGGTTGCCAGGCATTGCTCTCTCTGAGAGAAGGTTCATTCTGAGCTCTCGGCCAGCTGGGAGCAGGCCCCTTTCCTCACTGTCCTTCCACGTTTAGGTCCTGTATGGTGGAAGAGTCGGGGACCCTCGAATCCCAGCTTGAAGCTACCAAAGTAAGTGCCCGTGGGGCTCTGGCCCAGCAGAGACCCTTCACCCAGCCACCCCCCAGGGTACCCCTTCCCTTCCTGGCTTAAAGTCAGGAACCAGATGTGCTATTATTGTACCCTTTTCCCTTGGCCTAAAGCAGTCTAGGGCTCTTCACTATCTCT... | pathogenic | 151,446 |
Chromosome 9, position 128632260, gene SPTAN1 (spectrin alpha, non-erythrocytic 1): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Developmental_and_epileptic_encephalopathy,_5', 'Developmental_delay_with_or_without_epilepsy', 'Early_infantile_epileptic_encephalopathy_with_suppression_bursts', 'Focal_epilepsy', 'SPTAN1-related_disorder'] | TAAAAGGAATGTGAGGTTGCCAGGCATTGCTCTCTCTGAGAGAAGGTTCATTCTGAGCTCTCGGCCAGCTGGGAGCAGGCCCCTTTCCTCACTGTCCTTCCACGTTTAGGTCCTGTATGGTGGAAGAGTCGGGGACCCTCGAATCCCAGCTTGAAGCTACCAAAGTAAGTGCCCGTGGGGCTCTGGCCCAGCAGAGACCCTTCACCCAGCCACCCCCCAGGGTACCCCTTCCCTTCCTGGCTTAAAGTCAGGAACCAGATGTGCTATTATTGTACCCTTTTCCCTTGGCCTAAAGCAGTCTAGGGCTCTTCACTATCTCT... | TAAAAGGAATGTGAGGTTGCCAGGCATTGCTCTCTCTGAGAGAAGGTTCATTCTGAGCTCTCGGCCAGCTGGGAGCAGGCCCCTTTCCTCACTGTCCTTCCACGTTTAGGTCCTGTATGGTGGAAGAGTCGGGGACCCTCGAATCCCAGCTTGAAGCTACCAAAGTAAGTGCCCGTGGGGCTCTGGCCCAGCAGAGACCCTTCACCCAGCCACCCCCCAGGGTACCCCTTCCCTTCCTGGCTTAAAGTCAGGAACCAGATGTGCTATTATTGTACCCTTTTCCCTTGGCCTAAAGCAGTCTAGGGCTCTTCACTATCTCT... | pathogenic | 151,447 |
Considering the genetic mutation at chromosome 9, position 128632280, impacting SPTAN1 (spectrin alpha, non-erythrocytic 1): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Developmental_and_epileptic_encephalopathy,_5', 'Epileptic_encephalopathy'] | CAGGCATTGCTCTCTCTGAGAGAAGGTTCATTCTGAGCTCTCGGCCAGCTGGGAGCAGGCCCCTTTCCTCACTGTCCTTCCACGTTTAGGTCCTGTATGGTGGAAGAGTCGGGGACCCTCGAATCCCAGCTTGAAGCTACCAAAGTAAGTGCCCGTGGGGCTCTGGCCCAGCAGAGACCCTTCACCCAGCCACCCCCCAGGGTACCCCTTCCCTTCCTGGCTTAAAGTCAGGAACCAGATGTGCTATTATTGTACCCTTTTCCCTTGGCCTAAAGCAGTCTAGGGCTCTTCACTATCTCTCTCTCTTTTCTTTCTTTCTT... | CAGGCATTGCTCTCTCTGAGAGAAGGTTCATTCTGAGCTCTCGGCCAGCTGGGAGCAGGCCCCTTTCCTCACTGTCCTTCCACGTTTAGGTCCTGTATGGTGGAAGAGTCGGGGACCCTCGAATCCCAGCTTGAAGCTACCAAAGTAAGTGCCCGTGGGGCTCTGGCCCAGCAGAGACCCTTCACCCAGCCACCCCCCAGGGTACCCCTTCCCTTCCTGGCTTAAAGTCAGGAACCAGATGTGCTATTATTGTACCCTTTTCCCTTGGCCTAAAGCAGTCTAGGGCTCTTCACTATCTCTCTCTCTTTTCTTTCTTTCTT... | pathogenic | 151,448 |
Is the chromosome 9, position 128632721 variant in SPTAN1 (spectrin alpha, non-erythrocytic 1) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | benign | GTGTGCCACCACATTTGGCTAATTTTTGTTTATTTTTAATTATCTTTTGAGATGGAGTTTCACTCTTGTTGCCCAGGCTGGAGTGCAATGGACGTGGTCTTGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGTGATCCTCCTGCCTCAACCTCCCAAGTAGCTGGGATTACAGGCGCCCACCACCACACCTGGGTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCAGGCTGGTCTCGAACTCCTGACCTCGGCTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAAGCGTGA... | GTGTGCCACCACATTTGGCTAATTTTTGTTTATTTTTAATTATCTTTTGAGATGGAGTTTCACTCTTGTTGCCCAGGCTGGAGTGCAATGGACGTGGTCTTGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGTGATCCTCCTGCCTCAACCTCCCAAGTAGCTGGGATTACAGGCGCCCACCACCACACCTGGGTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCAGGCTGGTCTCGAACTCCTGACCTCGGCTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAAGCGTGA... | benign | 151,463 |
Gene mutation in SPTAN1 (spectrin alpha, non-erythrocytic 1) at chromosome 9, position 128632962—is it benign or pathogenic? If pathogenic, specify the disease(s). | benign | AGGCAGGCTGGTCTCGAACTCCTGACCTCGGCTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAAGCGTGAGCCACCACATCTGGCCTAGTTTTTATATTTTTAGTAGAGACAGTGTTTTGCCTTGTTGGCCAGGCCGGTCTGGAACTCCTGATCTCCAGTGATCTGTCCACCTCAGCCTCCCAAAGTGCTGGGATTACAAGCATGAGCCACCACTCCCGGCCGAGGGCTCTTCACTTTAAAGAAAGTCTTTGGGGCTGGGTGTGGTGACTTACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCGGGTG... | AGGCAGGCTGGTCTCGAACTCCTGACCTCGGCTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAAGCGTGAGCCACCACATCTGGCCTAGTTTTTATATTTTTAGTAGAGACAGTGTTTTGCCTTGTTGGCCAGGCCGGTCTGGAACTCCTGATCTCCAGTGATCTGTCCACCTCAGCCTCCCAAAGTGCTGGGATTACAAGCATGAGCCACCACTCCCGGCCGAGGGCTCTTCACTTTAAAGAAAGTCTTTGGGGCTGGGTGTGGTGACTTACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCGGGTG... | benign | 151,469 |
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