question stringlengths 84 268 | answer stringlengths 6 879 | reference_sequence stringlengths 4.1k 4.1k | mutated_sequence stringlengths 4.1k 4.1k | cleaned_pathogenicity stringclasses 2
values | __index_level_0__ int64 67 343k |
|---|---|---|---|---|---|
Clinical impact (benign or pathogenic) of the variant at chromosome 17, location 19656545, gene ALDH3A2 (aldehyde dehydrogenase 3 family member A2): what disease(s) if pathogenic? | pathogenic; ['Sjögren-Larsson_syndrome'] | GTGGCGCTGGTGGGCTGGCATTGCTGGGGGACCCGGGGCACCCTCCTCAGCAGCTGGCCCAGGTGCTAAGCCCCTCATTGCCCAGGGCTGGCGGCGCCGGCCAGCTGCTCCGAGTGTGGGGCCCATTGAGCCTGCGCCCACCCAGAACTCGCTCTGGCTTGTGAGCGCCACGCGCAGCCCCGGTTCCTGCCTGCGCCTCTCCCTCCACACCTTCCCACAAGCAGAAGGAGCCGGCTCCAGCCTTGGCCAGCCCAGAGAGGGGCTCCCACAGTGCAGCTGTGGGCTGAAGGGCTCCTCAAGCGTGGCGAGAGTGGGTGCCA... | GTGGCGCTGGTGGGCTGGCATTGCTGGGGGACCCGGGGCACCCTCCTCAGCAGCTGGCCCAGGTGCTAAGCCCCTCATTGCCCAGGGCTGGCGGCGCCGGCCAGCTGCTCCGAGTGTGGGGCCCATTGAGCCTGCGCCCACCCAGAACTCGCTCTGGCTTGTGAGCGCCACGCGCAGCCCCGGTTCCTGCCTGCGCCTCTCCCTCCACACCTTCCCACAAGCAGAAGGAGCCGGCTCCAGCCTTGGCCAGCCCAGAGAGGGGCTCCCACAGTGCAGCTGTGGGCTGAAGGGCTCCTCAAGCGTGGCGAGAGTGGGTGCCA... | pathogenic | 266,301 |
Does the chromosome 17 mutation at position 19657698 within gene ALDH3A2 (aldehyde dehydrogenase 3 family member A2) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | benign | GAATACCTCTCTGTCTTCCTTGCTTGCCATCTGTTCTCTTACTTTTGATGCTGTTATTGTCCAAGATGTTCTCTCTTAGAATAGCTGGTAATGATAGCACAATGCATAGATGGGCTCAGTCCACAGAAGCTACGTGAATTCTCCCAGTAACAGATGAGGAAATTGAGGCTCAGAGATGTTCAGTAGCTTGCCTAAGGTTGCATAAGCTAGTGAGTGGCAGAGCCCAGATTCAAACCAGATACACTTCAAAAGCAAGCGCTCTCAGCTACTGTGCCGGATATACCATTCATTCAGAATAGCGTGGGCTAAGCCCACTCTGT... | GAATACCTCTCTGTCTTCCTTGCTTGCCATCTGTTCTCTTACTTTTGATGCTGTTATTGTCCAAGATGTTCTCTCTTAGAATAGCTGGTAATGATAGCACAATGCATAGATGGGCTCAGTCCACAGAAGCTACGTGAATTCTCCCAGTAACAGATGAGGAAATTGAGGCTCAGAGATGTTCAGTAGCTTGCCTAAGGTTGCATAAGCTAGTGAGTGGCAGAGCCCAGATTCAAACCAGATACACTTCAAAAGCAAGCGCTCTCAGCTACTGTGCCGGATATACCATTCATTCAGAATAGCGTGGGCTAAGCCCACTCTGT... | benign | 266,305 |
Determine whether the variant at chromosome 17, position 19657861, in gene ALDH3A2 (aldehyde dehydrogenase 3 family member A2) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Sjögren-Larsson_syndrome'] | TGAGGCTCAGAGATGTTCAGTAGCTTGCCTAAGGTTGCATAAGCTAGTGAGTGGCAGAGCCCAGATTCAAACCAGATACACTTCAAAAGCAAGCGCTCTCAGCTACTGTGCCGGATATACCATTCATTCAGAATAGCGTGGGCTAAGCCCACTCTGTGTTGTGAGACAGAGAACATTCAGACTAAGACATGCATGACCTGTCCTGTGGGAGCCACTCTTCACCAGAGGCACTTCTGCACACACCCGCGTCTCATGCATTTTCCCTGGTCAAATTCAACCATTTGTTCTCCTTAGTGTCTTTGTTGCTGAGCTCATGTAAA... | TGAGGCTCAGAGATGTTCAGTAGCTTGCCTAAGGTTGCATAAGCTAGTGAGTGGCAGAGCCCAGATTCAAACCAGATACACTTCAAAAGCAAGCGCTCTCAGCTACTGTGCCGGATATACCATTCATTCAGAATAGCGTGGGCTAAGCCCACTCTGTGTTGTGAGACAGAGAACATTCAGACTAAGACATGCATGACCTGTCCTGTGGGAGCCACTCTTCACCAGAGGCACTTCTGCACACACCCGCGTCTCATGCATTTTCCCTGGTCAAATTCAACCATTTGTTCTCCTTAGTGTCTTTGTTGCTGAGCTCATGTAAA... | pathogenic | 266,312 |
Determine if the mutation at chromosome 17, position 19657862 in gene ALDH3A2 (aldehyde dehydrogenase 3 family member A2) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Sjögren-Larsson_syndrome'] | GAGGCTCAGAGATGTTCAGTAGCTTGCCTAAGGTTGCATAAGCTAGTGAGTGGCAGAGCCCAGATTCAAACCAGATACACTTCAAAAGCAAGCGCTCTCAGCTACTGTGCCGGATATACCATTCATTCAGAATAGCGTGGGCTAAGCCCACTCTGTGTTGTGAGACAGAGAACATTCAGACTAAGACATGCATGACCTGTCCTGTGGGAGCCACTCTTCACCAGAGGCACTTCTGCACACACCCGCGTCTCATGCATTTTCCCTGGTCAAATTCAACCATTTGTTCTCCTTAGTGTCTTTGTTGCTGAGCTCATGTAAAA... | GAGGCTCAGAGATGTTCAGTAGCTTGCCTAAGGTTGCATAAGCTAGTGAGTGGCAGAGCCCAGATTCAAACCAGATACACTTCAAAAGCAAGCGCTCTCAGCTACTGTGCCGGATATACCATTCATTCAGAATAGCGTGGGCTAAGCCCACTCTGTGTTGTGAGACAGAGAACATTCAGACTAAGACATGCATGACCTGTCCTGTGGGAGCCACTCTTCACCAGAGGCACTTCTGCACACACCCGCGTCTCATGCATTTTCCCTGGTCAAATTCAACCATTTGTTCTCCTTAGTGTCTTTGTTGCTGAGCTCATGTAAAA... | pathogenic | 266,314 |
Does the variant on chromosome 17 at location 19661149 affecting gene ALDH3A2 (aldehyde dehydrogenase 3 family member A2) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Sjögren-Larsson_syndrome'] | CGCACCTATAATTCTAGCTACTTGGGAGGCTGAGGCACAAGAATTGCTTGAACCCGGGAGGTGGAGCTTGCAGTGAGCCAAGATCATGCTACTGCACTCCAGCCTGGGTAACGGAATGAGATTTTATCTCAAAAGAAAAAAAGATATGAAAATTGTCGCCGTTGTGGTGGTTCACTCCTGTAATCCGAGCACTTTGGGAGGCTAAGGTGGGAAGATCGCTTGAGCCCAGGAGTTCAAAACCAGCCTGGTCAACATAATGAGACCCTGTGTCTACAAAAGAAAAAAAGGTTAGCTGGGTATGGTGGCACATGCCTGTAGTC... | CGCACCTATAATTCTAGCTACTTGGGAGGCTGAGGCACAAGAATTGCTTGAACCCGGGAGGTGGAGCTTGCAGTGAGCCAAGATCATGCTACTGCACTCCAGCCTGGGTAACGGAATGAGATTTTATCTCAAAAGAAAAAAAGATATGAAAATTGTCGCCGTTGTGGTGGTTCACTCCTGTAATCCGAGCACTTTGGGAGGCTAAGGTGGGAAGATCGCTTGAGCCCAGGAGTTCAAAACCAGCCTGGTCAACATAATGAGACCCTGTGTCTACAAAAGAAAAAAAGGTTAGCTGGGTATGGTGGCACATGCCTGTAGTC... | pathogenic | 266,317 |
Does the chromosome 17 mutation at position 19661229 within gene ALDH3A2 (aldehyde dehydrogenase 3 family member A2) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Sjögren-Larsson_syndrome'] | AGATCATGCTACTGCACTCCAGCCTGGGTAACGGAATGAGATTTTATCTCAAAAGAAAAAAAGATATGAAAATTGTCGCCGTTGTGGTGGTTCACTCCTGTAATCCGAGCACTTTGGGAGGCTAAGGTGGGAAGATCGCTTGAGCCCAGGAGTTCAAAACCAGCCTGGTCAACATAATGAGACCCTGTGTCTACAAAAGAAAAAAAGGTTAGCTGGGTATGGTGGCACATGCCTGTAGTCCCAGCTACTCAGGAGGCTGAAGCCAGAAGGATCACTTGAGCCCAGGAGTTCAAGGCTGCAATGAGCCATTATTGCATCAC... | AGATCATGCTACTGCACTCCAGCCTGGGTAACGGAATGAGATTTTATCTCAAAAGAAAAAAAGATATGAAAATTGTCGCCGTTGTGGTGGTTCACTCCTGTAATCCGAGCACTTTGGGAGGCTAAGGTGGGAAGATCGCTTGAGCCCAGGAGTTCAAAACCAGCCTGGTCAACATAATGAGACCCTGTGTCTACAAAAGAAAAAAAGGTTAGCTGGGTATGGTGGCACATGCCTGTAGTCCCAGCTACTCAGGAGGCTGAAGCCAGAAGGATCACTTGAGCCCAGGAGTTCAAGGCTGCAATGAGCCATTATTGCATCAC... | pathogenic | 266,319 |
A genetic variant at chromosome 17, position 19661229, affecting gene ALDH3A2 (aldehyde dehydrogenase 3 family member A2)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic | AGATCATGCTACTGCACTCCAGCCTGGGTAACGGAATGAGATTTTATCTCAAAAGAAAAAAAGATATGAAAATTGTCGCCGTTGTGGTGGTTCACTCCTGTAATCCGAGCACTTTGGGAGGCTAAGGTGGGAAGATCGCTTGAGCCCAGGAGTTCAAAACCAGCCTGGTCAACATAATGAGACCCTGTGTCTACAAAAGAAAAAAAGGTTAGCTGGGTATGGTGGCACATGCCTGTAGTCCCAGCTACTCAGGAGGCTGAAGCCAGAAGGATCACTTGAGCCCAGGAGTTCAAGGCTGCAATGAGCCATTATTGCATCAC... | AGATCATGCTACTGCACTCCAGCCTGGGTAACGGAATGAGATTTTATCTCAAAAGAAAAAAAGATATGAAAATTGTCGCCGTTGTGGTGGTTCACTCCTGTAATCCGAGCACTTTGGGAGGCTAAGGTGGGAAGATCGCTTGAGCCCAGGAGTTCAAAACCAGCCTGGTCAACATAATGAGACCCTGTGTCTACAAAAGAAAAAAAGGTTAGCTGGGTATGGTGGCACATGCCTGTAGTCCCAGCTACTCAGGAGGCTGAAGCCAGAAGGATCACTTGAGCCCAGGAGTTCAAGGCTGCAATGAGCCATTATTGCATCAC... | pathogenic | 266,320 |
Clinical significance of chromosome 17, position 19663333, gene ALDH3A2 (aldehyde dehydrogenase 3 family member A2): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Cerebral_palsy', 'Inborn_genetic_diseases', 'Sjögren-Larsson_syndrome'] | TTTTCCTATGGGAAGATGGCAATTTGGCAGTTTTTGCTGACACTACTTATTAACACTAGATAAACTATTAAATATATAGCATTTAATTGTTAAAGTACTAAATCCTGCTTTCTGGTATACTGTACCTGTAGCTTTTGTTATAAACTATTTAAAATGTCTGTGTTTCTGTGTATTGAATGATGCCACCAGCGTTGCTCCAGTTGTTCATATTTACACATAACTCCTTTTTTCCTCCTAACAATCCTGAGAAGCAGAATAGAACTTGATGTAATTATCTGTAGTTTGTGGATGGGAAAACAGCACAAAGAAGGAAATAGCTT... | TTTTCCTATGGGAAGATGGCAATTTGGCAGTTTTTGCTGACACTACTTATTAACACTAGATAAACTATTAAATATATAGCATTTAATTGTTAAAGTACTAAATCCTGCTTTCTGGTATACTGTACCTGTAGCTTTTGTTATAAACTATTTAAAATGTCTGTGTTTCTGTGTATTGAATGATGCCACCAGCGTTGCTCCAGTTGTTCATATTTACACATAACTCCTTTTTTCCTCCTAACAATCCTGAGAAGCAGAATAGAACTTGATGTAATTATCTGTAGTTTGTGGATGGGAAAACAGCACAAAGAAGGAAATAGCTT... | pathogenic | 266,325 |
Classify the chromosome 17 variant at position 19663336 affecting gene ALDH3A2 (aldehyde dehydrogenase 3 family member A2) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Sjögren-Larsson_syndrome'] | TCCTATGGGAAGATGGCAATTTGGCAGTTTTTGCTGACACTACTTATTAACACTAGATAAACTATTAAATATATAGCATTTAATTGTTAAAGTACTAAATCCTGCTTTCTGGTATACTGTACCTGTAGCTTTTGTTATAAACTATTTAAAATGTCTGTGTTTCTGTGTATTGAATGATGCCACCAGCGTTGCTCCAGTTGTTCATATTTACACATAACTCCTTTTTTCCTCCTAACAATCCTGAGAAGCAGAATAGAACTTGATGTAATTATCTGTAGTTTGTGGATGGGAAAACAGCACAAAGAAGGAAATAGCTTGGC... | TCCTATGGGAAGATGGCAATTTGGCAGTTTTTGCTGACACTACTTATTAACACTAGATAAACTATTAAATATATAGCATTTAATTGTTAAAGTACTAAATCCTGCTTTCTGGTATACTGTACCTGTAGCTTTTGTTATAAACTATTTAAAATGTCTGTGTTTCTGTGTATTGAATGATGCCACCAGCGTTGCTCCAGTTGTTCATATTTACACATAACTCCTTTTTTCCTCCTAACAATCCTGAGAAGCAGAATAGAACTTGATGTAATTATCTGTAGTTTGTGGATGGGAAAACAGCACAAAGAAGGAAATAGCTTGGC... | pathogenic | 266,327 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 17, position 19663369, gene ALDH3A2 (aldehyde dehydrogenase 3 family member A2). What disease(s) is it linked to if pathogenic? | pathogenic; ['Sjögren-Larsson_syndrome'] | CTGACACTACTTATTAACACTAGATAAACTATTAAATATATAGCATTTAATTGTTAAAGTACTAAATCCTGCTTTCTGGTATACTGTACCTGTAGCTTTTGTTATAAACTATTTAAAATGTCTGTGTTTCTGTGTATTGAATGATGCCACCAGCGTTGCTCCAGTTGTTCATATTTACACATAACTCCTTTTTTCCTCCTAACAATCCTGAGAAGCAGAATAGAACTTGATGTAATTATCTGTAGTTTGTGGATGGGAAAACAGCACAAAGAAGGAAATAGCTTGGCCACTATTCCACAATTAACCAGTGACGGTACCAT... | CTGACACTACTTATTAACACTAGATAAACTATTAAATATATAGCATTTAATTGTTAAAGTACTAAATCCTGCTTTCTGGTATACTGTACCTGTAGCTTTTGTTATAAACTATTTAAAATGTCTGTGTTTCTGTGTATTGAATGATGCCACCAGCGTTGCTCCAGTTGTTCATATTTACACATAACTCCTTTTTTCCTCCTAACAATCCTGAGAAGCAGAATAGAACTTGATGTAATTATCTGTAGTTTGTGGATGGGAAAACAGCACAAAGAAGGAAATAGCTTGGCCACTATTCCACAATTAACCAGTGACGGTACCAT... | pathogenic | 266,328 |
Mutation found at chromosome 17 position 19664975, gene ALDH3A2 (aldehyde dehydrogenase 3 family member A2): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Sjögren-Larsson_syndrome'] | CTCCAGAGGCGGAGGTTGCAGTGAGCCGAGATGGCACCATTGCACTCCAGCCTGGGCAACAAGGGCGAAACTCCATCTCAAAAAAAAAACCTGTCCACAGAAAAATGTTAAGTATAATCTACAGTTAAATACATGCATGGCTGTGAACAGGGTTCAATGTGAAAAAGATATATTTGAGTGTGTATCGTTCCCTTGGTTTGCACAAGTATCCGCAGGGTTGTGATTCACAGGCTTTGGAGACATTGAGTATGTGCACAGTTCATCCACGTGCTCAGGATTTTTCAATAGATATGACTTGGGTGGGAGAGGGAAAGGCATGG... | CTCCAGAGGCGGAGGTTGCAGTGAGCCGAGATGGCACCATTGCACTCCAGCCTGGGCAACAAGGGCGAAACTCCATCTCAAAAAAAAAACCTGTCCACAGAAAAATGTTAAGTATAATCTACAGTTAAATACATGCATGGCTGTGAACAGGGTTCAATGTGAAAAAGATATATTTGAGTGTGTATCGTTCCCTTGGTTTGCACAAGTATCCGCAGGGTTGTGATTCACAGGCTTTGGAGACATTGAGTATGTGCACAGTTCATCCACGTGCTCAGGATTTTTCAATAGATATGACTTGGGTGGGAGAGGGAAAGGCATGG... | pathogenic | 266,333 |
The mutation in gene ALDH3A2 (aldehyde dehydrogenase 3 family member A2) at chromosome 17, position 19665024—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Sjögren-Larsson_syndrome'] | GCCTGGGCAACAAGGGCGAAACTCCATCTCAAAAAAAAAACCTGTCCACAGAAAAATGTTAAGTATAATCTACAGTTAAATACATGCATGGCTGTGAACAGGGTTCAATGTGAAAAAGATATATTTGAGTGTGTATCGTTCCCTTGGTTTGCACAAGTATCCGCAGGGTTGTGATTCACAGGCTTTGGAGACATTGAGTATGTGCACAGTTCATCCACGTGCTCAGGATTTTTCAATAGATATGACTTGGGTGGGAGAGGGAAAGGCATGGATAAGTGACCCAATGAAAGAGATGTAATATGAGAGTTGTGCATTTTTGT... | GCCTGGGCAACAAGGGCGAAACTCCATCTCAAAAAAAAAACCTGTCCACAGAAAAATGTTAAGTATAATCTACAGTTAAATACATGCATGGCTGTGAACAGGGTTCAATGTGAAAAAGATATATTTGAGTGTGTATCGTTCCCTTGGTTTGCACAAGTATCCGCAGGGTTGTGATTCACAGGCTTTGGAGACATTGAGTATGTGCACAGTTCATCCACGTGCTCAGGATTTTTCAATAGATATGACTTGGGTGGGAGAGGGAAAGGCATGGATAAGTGACCCAATGAAAGAGATGTAATATGAGAGTTGTGCATTTTTGT... | pathogenic | 266,335 |
Is the genetic variant on chromosome 17, position 19665173, gene ALDH3A2 (aldehyde dehydrogenase 3 family member A2), benign or pathogenic? If pathogenic, what disease(s) is indicated? | benign | TGCACAAGTATCCGCAGGGTTGTGATTCACAGGCTTTGGAGACATTGAGTATGTGCACAGTTCATCCACGTGCTCAGGATTTTTCAATAGATATGACTTGGGTGGGAGAGGGAAAGGCATGGATAAGTGACCCAATGAAAGAGATGTAATATGAGAGTTGTGCATTTTTGTCTAATAAGCATTTTCATTTTGTTTATTTTCTTTTTAGCCCCAACAGTACTTACCGATGTTGATCCTAAAACCAAGGTGATGCAAGAAGAAATTTTTGGACCAATTCTTCCAATAGTGCCTGTGAAAAATGTAGATGAGGCCATAAATTT... | TGCACAAGTATCCGCAGGGTTGTGATTCACAGGCTTTGGAGACATTGAGTATGTGCACAGTTCATCCACGTGCTCAGGATTTTTCAATAGATATGACTTGGGTGGGAGAGGGAAAGGCATGGATAAGTGACCCAATGAAAGAGATGTAATATGAGAGTTGTGCATTTTTGTCTAATAAGCATTTTCATTTTGTTTATTTTCTTTTTAGCCCCAACAGTACTTACCGATGTTGATCCTAAAACCAAGGTGATGCAAGAAGAAATTTTTGGACCAATTCTTCCAATAGTGCCTGTGAAAAATGTAGATGAGGCCATAAATTT... | benign | 266,336 |
Clinical significance of chromosome 17, position 19671802, gene ALDH3A2 (aldehyde dehydrogenase 3 family member A2): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Sjögren-Larsson_syndrome'] | CCTCCTGAATAGCTGGGATTACAAGGGTGCACCACCATGCCTGGCTAATTAAAAAAATTTTTTTTGTATAGAGGCGGGGTCTCACTGTGTTGCCCAGGCTGGTCTTGAATTCCTGGGCTCAAGCAATCCTCCCACCTCAGCCTCCCAACGTGCTGGGATTACAGGTGTGAGCCACCGTGCCCGGTCAAATGCACGCATTTTAGAGACAGACAACTAATAAGTAGTAAAGCCAAGAAATGAGCCAAAGTTGTCTGGCTCCAAAACCCACATATTCAACCAATCCAGTAGTTTGCTCTTTAGGACACAGTACTATTTCAATA... | CCTCCTGAATAGCTGGGATTACAAGGGTGCACCACCATGCCTGGCTAATTAAAAAAATTTTTTTTGTATAGAGGCGGGGTCTCACTGTGTTGCCCAGGCTGGTCTTGAATTCCTGGGCTCAAGCAATCCTCCCACCTCAGCCTCCCAACGTGCTGGGATTACAGGTGTGAGCCACCGTGCCCGGTCAAATGCACGCATTTTAGAGACAGACAACTAATAAGTAGTAAAGCCAAGAAATGAGCCAAAGTTGTCTGGCTCCAAAACCCACATATTCAACCAATCCAGTAGTTTGCTCTTTAGGACACAGTACTATTTCAATA... | pathogenic | 266,339 |
The genetic variant at chromosome 17, position 19671804, affecting gene ALDH3A2 (aldehyde dehydrogenase 3 family member A2): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Sjögren-Larsson_syndrome'] | TCCTGAATAGCTGGGATTACAAGGGTGCACCACCATGCCTGGCTAATTAAAAAAATTTTTTTTGTATAGAGGCGGGGTCTCACTGTGTTGCCCAGGCTGGTCTTGAATTCCTGGGCTCAAGCAATCCTCCCACCTCAGCCTCCCAACGTGCTGGGATTACAGGTGTGAGCCACCGTGCCCGGTCAAATGCACGCATTTTAGAGACAGACAACTAATAAGTAGTAAAGCCAAGAAATGAGCCAAAGTTGTCTGGCTCCAAAACCCACATATTCAACCAATCCAGTAGTTTGCTCTTTAGGACACAGTACTATTTCAATACC... | TCCTGAATAGCTGGGATTACAAGGGTGCACCACCATGCCTGGCTAATTAAAAAAATTTTTTTTGTATAGAGGCGGGGTCTCACTGTGTTGCCCAGGCTGGTCTTGAATTCCTGGGCTCAAGCAATCCTCCCACCTCAGCCTCCCAACGTGCTGGGATTACAGGTGTGAGCCACCGTGCCCGGTCAAATGCACGCATTTTAGAGACAGACAACTAATAAGTAGTAAAGCCAAGAAATGAGCCAAAGTTGTCTGGCTCCAAAACCCACATATTCAACCAATCCAGTAGTTTGCTCTTTAGGACACAGTACTATTTCAATACC... | pathogenic | 266,340 |
Evaluate this variant at chromosome 17, position 19671818, gene ALDH3A2 (aldehyde dehydrogenase 3 family member A2): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Sjögren-Larsson_syndrome'] | GATTACAAGGGTGCACCACCATGCCTGGCTAATTAAAAAAATTTTTTTTGTATAGAGGCGGGGTCTCACTGTGTTGCCCAGGCTGGTCTTGAATTCCTGGGCTCAAGCAATCCTCCCACCTCAGCCTCCCAACGTGCTGGGATTACAGGTGTGAGCCACCGTGCCCGGTCAAATGCACGCATTTTAGAGACAGACAACTAATAAGTAGTAAAGCCAAGAAATGAGCCAAAGTTGTCTGGCTCCAAAACCCACATATTCAACCAATCCAGTAGTTTGCTCTTTAGGACACAGTACTATTTCAATACCTAAAAGTAAAAGCT... | GATTACAAGGGTGCACCACCATGCCTGGCTAATTAAAAAAATTTTTTTTGTATAGAGGCGGGGTCTCACTGTGTTGCCCAGGCTGGTCTTGAATTCCTGGGCTCAAGCAATCCTCCCACCTCAGCCTCCCAACGTGCTGGGATTACAGGTGTGAGCCACCGTGCCCGGTCAAATGCACGCATTTTAGAGACAGACAACTAATAAGTAGTAAAGCCAAGAAATGAGCCAAAGTTGTCTGGCTCCAAAACCCACATATTCAACCAATCCAGTAGTTTGCTCTTTAGGACACAGTACTATTTCAATACCTAAAAGTAAAAGCT... | pathogenic | 266,341 |
The mutation impacting SLC46A1 (solute carrier family 46 member 1) on chromosome 17 at position 28404714: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Congenital_defect_of_folate_absorption'] | TCAAAACCTGATGCCATTACATATTATCTGTGTGGCCTGGGGTACTTACCCTCTCTGATCCTGACTCCCTGTATGAGGAAGATAATAAGGCCTTCATCACAGGATGGTTCTGAGGCATAGGAGGCTGAATAATGGTGCCCAATGGCATCAGATTCATAGCCCTGGAACCTGTAAATACTACCTTATTTGGAAAATGAGTCTATGCAGGTGTGCAGTTAAGCCTCCTGAGAGAGCAGAGTTATCCTGGATTAGGTTGGGCCCTAAATGCCGTCACACATATCTTTATAAGAGGAAAGCAGACGGAGATTTGGCACCGACAG... | TCAAAACCTGATGCCATTACATATTATCTGTGTGGCCTGGGGTACTTACCCTCTCTGATCCTGACTCCCTGTATGAGGAAGATAATAAGGCCTTCATCACAGGATGGTTCTGAGGCATAGGAGGCTGAATAATGGTGCCCAATGGCATCAGATTCATAGCCCTGGAACCTGTAAATACTACCTTATTTGGAAAATGAGTCTATGCAGGTGTGCAGTTAAGCCTCCTGAGAGAGCAGAGTTATCCTGGATTAGGTTGGGCCCTAAATGCCGTCACACATATCTTTATAAGAGGAAAGCAGACGGAGATTTGGCACCGACAG... | pathogenic | 266,422 |
The chromosome 17, position 28524940 genetic variant in gene FOXN1 (forkhead box N1): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['T-cell_immunodeficiency,_congenital_alopecia,_and_nail_dystrophy'] | GGCATTTATGGGGCACGGACTGTGCACCAGGCACTGTGCTGAATGCTTTCTGCGCATGATTTTGTTTGACACTCACAACATCTGTGTGAGGTGGGGCCTGTCACTCTCCCAGTTAGATGATGACGCTGAAGTTCAGAGAGCTTTGCTGGCACTGCTTGAGAGGAAGGGCCAACCCCGGCTTTGAGGCCTGAGTCCTCTTAACCACCCCACTGTGTTAGGGACAGGGTTCCCCTATGATTGCAGAAGGTCTGAGCAGAAAAAGCCCTCCGATATCATGTACCCAAGGCTCTAGGTCTTCATGGGGAAACTGAAGATCAGAA... | GGCATTTATGGGGCACGGACTGTGCACCAGGCACTGTGCTGAATGCTTTCTGCGCATGATTTTGTTTGACACTCACAACATCTGTGTGAGGTGGGGCCTGTCACTCTCCCAGTTAGATGATGACGCTGAAGTTCAGAGAGCTTTGCTGGCACTGCTTGAGAGGAAGGGCCAACCCCGGCTTTGAGGCCTGAGTCCTCTTAACCACCCCACTGTGTTAGGGACAGGGTTCCCCTATGATTGCAGAAGGTCTGAGCAGAAAAAGCCCTCCGATATCATGTACCCAAGGCTCTAGGTCTTCATGGGGAAACTGAAGATCAGAA... | pathogenic | 266,445 |
Determine whether the variant at chromosome 17, position 28530823, in gene FOXN1 (forkhead box N1) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['T-cell_immunodeficiency,_congenital_alopecia,_and_nail_dystrophy', 'T-cell_lymphopenia,_infantile,_with_or_without_nail_dystrophy,_autosomal_dominant'] | TGGAAGGGTGCAGGGGCCGAGGGCTTCACTTCATACTCTCCCTGCAGGGTCCCGTCACCATAGCAACCAGAGCATCAAAAGGGCTGAGAGGAAGGAGCTGGAGGAAGAGGGTTTTAAGGCCTCTGAGATCCTGAATTACAGGGTGTGGATCTCCTCACAGCCCCTCAGACAGCTCTGCTTTGGGGGTGATGGGGCCCATGACCCAGGAGGGAAGAATCTGGCCTGAGCCCCTTCTCTGGATGTATATAAATGGGGAGGAGGGCCCTCCTGGGAAAGGCTGGGTACCATGCAATCACTCTGCCCCTTTTGACCTCCTCAGT... | TGGAAGGGTGCAGGGGCCGAGGGCTTCACTTCATACTCTCCCTGCAGGGTCCCGTCACCATAGCAACCAGAGCATCAAAAGGGCTGAGAGGAAGGAGCTGGAGGAAGAGGGTTTTAAGGCCTCTGAGATCCTGAATTACAGGGTGTGGATCTCCTCACAGCCCCTCAGACAGCTCTGCTTTGGGGGTGATGGGGCCCATGACCCAGGAGGGAAGAATCTGGCCTGAGCCCCTTCTCTGGATGTATATAAATGGGGAGGAGGGCCCTCCTGGGAAAGGCTGGGTACCATGCAATCACTCTGCCCCTTTTGACCTCCTCAGT... | pathogenic | 266,460 |
A genetic alteration at chromosome 17, position 28534334, in gene FOXN1 (forkhead box N1)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['T-cell_immunodeficiency,_congenital_alopecia,_and_nail_dystrophy', 'T-lymphocyte_deficiency'] | CTAGTTGTTGCTTTTAGCCACTTGCATCACTCCCTCACTCCTGAGTTTACATTTGATCTCAGAGAGAAAGCATCTGTGAGGATGGGATGGGCCCCAGATTGTGAGGCAGGCCCTATGGGGTGACCTGGGCAGGGCCCTTAGCTGGGGGACAGAGTTGGAGGCTAAGCTCTGTCACTGCCTCCTTGTGTGATCCAGGGCTAGGCCCTTTCTTCTCTGAACCTCAGTTTCCCAGTCTGTAAAGTGGGTCAGATCCGTTGGCACATAGATTCCTTCTGACTCTGACAGTTCCCCTGTGACCCACCTAAGGAAATTCCTTAGTT... | CTAGTTGTTGCTTTTAGCCACTTGCATCACTCCCTCACTCCTGAGTTTACATTTGATCTCAGAGAGAAAGCATCTGTGAGGATGGGATGGGCCCCAGATTGTGAGGCAGGCCCTATGGGGTGACCTGGGCAGGGCCCTTAGCTGGGGGACAGAGTTGGAGGCTAAGCTCTGTCACTGCCTCCTTGTGTGATCCAGGGCTAGGCCCTTTCTTCTCTGAACCTCAGTTTCCCAGTCTGTAAAGTGGGTCAGATCCGTTGGCACATAGATTCCTTCTGACTCTGACAGTTCCCCTGTGACCCACCTAAGGAAATTCCTTAGTT... | pathogenic | 266,462 |
Evaluate if the mutation on chromosome 17 at position 28534411 in FOXN1 (forkhead box N1) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['T-cell_immunodeficiency,_congenital_alopecia,_and_nail_dystrophy'] | GAGGATGGGATGGGCCCCAGATTGTGAGGCAGGCCCTATGGGGTGACCTGGGCAGGGCCCTTAGCTGGGGGACAGAGTTGGAGGCTAAGCTCTGTCACTGCCTCCTTGTGTGATCCAGGGCTAGGCCCTTTCTTCTCTGAACCTCAGTTTCCCAGTCTGTAAAGTGGGTCAGATCCGTTGGCACATAGATTCCTTCTGACTCTGACAGTTCCCCTGTGACCCACCTAAGGAAATTCCTTAGTTCAAAGATCCCCCACCTCTTTCCATCTCTCACTTCCCTTTTGAAGATCATTTTTCTGGGCAAGGATAGACTGGACCCT... | GAGGATGGGATGGGCCCCAGATTGTGAGGCAGGCCCTATGGGGTGACCTGGGCAGGGCCCTTAGCTGGGGGACAGAGTTGGAGGCTAAGCTCTGTCACTGCCTCCTTGTGTGATCCAGGGCTAGGCCCTTTCTTCTCTGAACCTCAGTTTCCCAGTCTGTAAAGTGGGTCAGATCCGTTGGCACATAGATTCCTTCTGACTCTGACAGTTCCCCTGTGACCCACCTAAGGAAATTCCTTAGTTCAAAGATCCCCCACCTCTTTCCATCTCTCACTTCCCTTTTGAAGATCATTTTTCTGGGCAAGGATAGACTGGACCCT... | pathogenic | 266,466 |
Determine if the mutation at chromosome 17, position 28534484 in gene FOXN1 (forkhead box N1) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['T-cell_immunodeficiency,_congenital_alopecia,_and_nail_dystrophy', 'T-cell_lymphopenia,_infantile,_with_or_without_nail_dystrophy,_autosomal_dominant'] | AGAGTTGGAGGCTAAGCTCTGTCACTGCCTCCTTGTGTGATCCAGGGCTAGGCCCTTTCTTCTCTGAACCTCAGTTTCCCAGTCTGTAAAGTGGGTCAGATCCGTTGGCACATAGATTCCTTCTGACTCTGACAGTTCCCCTGTGACCCACCTAAGGAAATTCCTTAGTTCAAAGATCCCCCACCTCTTTCCATCTCTCACTTCCCTTTTGAAGATCATTTTTCTGGGCAAGGATAGACTGGACCCTGGAGTGGCCAGCACTCATGCCCAAGGCAGCTGCTGTGGGCATCCCATAGCCCCATGAGTCAGGGATGTGGGGC... | AGAGTTGGAGGCTAAGCTCTGTCACTGCCTCCTTGTGTGATCCAGGGCTAGGCCCTTTCTTCTCTGAACCTCAGTTTCCCAGTCTGTAAAGTGGGTCAGATCCGTTGGCACATAGATTCCTTCTGACTCTGACAGTTCCCCTGTGACCCACCTAAGGAAATTCCTTAGTTCAAAGATCCCCCACCTCTTTCCATCTCTCACTTCCCTTTTGAAGATCATTTTTCTGGGCAAGGATAGACTGGACCCTGGAGTGGCCAGCACTCATGCCCAAGGCAGCTGCTGTGGGCATCCCATAGCCCCATGAGTCAGGGATGTGGGGC... | pathogenic | 266,468 |
Is the genetic change at chromosome 17, position 28534539, within gene FOXN1 (forkhead box N1) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['T-cell_immunodeficiency,_congenital_alopecia,_and_nail_dystrophy'] | TTTCTTCTCTGAACCTCAGTTTCCCAGTCTGTAAAGTGGGTCAGATCCGTTGGCACATAGATTCCTTCTGACTCTGACAGTTCCCCTGTGACCCACCTAAGGAAATTCCTTAGTTCAAAGATCCCCCACCTCTTTCCATCTCTCACTTCCCTTTTGAAGATCATTTTTCTGGGCAAGGATAGACTGGACCCTGGAGTGGCCAGCACTCATGCCCAAGGCAGCTGCTGTGGGCATCCCATAGCCCCATGAGTCAGGGATGTGGGGCTGGGGAAGTGTCCAGCCACTGGACATAATTGTTAGTGCTGACCATCCCTCTTCCA... | TTTCTTCTCTGAACCTCAGTTTCCCAGTCTGTAAAGTGGGTCAGATCCGTTGGCACATAGATTCCTTCTGACTCTGACAGTTCCCCTGTGACCCACCTAAGGAAATTCCTTAGTTCAAAGATCCCCCACCTCTTTCCATCTCTCACTTCCCTTTTGAAGATCATTTTTCTGGGCAAGGATAGACTGGACCCTGGAGTGGCCAGCACTCATGCCCAAGGCAGCTGCTGTGGGCATCCCATAGCCCCATGAGTCAGGGATGTGGGGCTGGGGAAGTGTCCAGCCACTGGACATAATTGTTAGTGCTGACCATCCCTCTTCCA... | pathogenic | 266,469 |
A genetic variant on chromosome 17, position 28534738, affects the gene FOXN1 (forkhead box N1). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['T-cell_immunodeficiency,_congenital_alopecia,_and_nail_dystrophy'] | CCAGCACTCATGCCCAAGGCAGCTGCTGTGGGCATCCCATAGCCCCATGAGTCAGGGATGTGGGGCTGGGGAAGTGTCCAGCCACTGGACATAATTGTTAGTGCTGACCATCCCTCTTCCAAACAGGAAGTGGCTGGGGTGGGGGCTGCCCTGGCATCCCAAAGTCACAGATTCATGGGGCCATAAAAGGCCCCAGCGCCCATTAACTCCGCCCATGGGGCAACGTGGCCTTAACTCCTAGTGGAGACTGTGGTGGGAGTCGAAGGTGAATCCCTAGTTGGCTGGTCTGGTGGCTCAAGAATCCTCCCTGGTGACCCTGG... | CCAGCACTCATGCCCAAGGCAGCTGCTGTGGGCATCCCATAGCCCCATGAGTCAGGGATGTGGGGCTGGGGAAGTGTCCAGCCACTGGACATAATTGTTAGTGCTGACCATCCCTCTTCCAAACAGGAAGTGGCTGGGGTGGGGGCTGCCCTGGCATCCCAAAGTCACAGATTCATGGGGCCATAAAAGGCCCCAGCGCCCATTAACTCCGCCCATGGGGCAACGTGGCCTTAACTCCTAGTGGAGACTGTGGTGGGAGTCGAAGGTGAATCCCTAGTTGGCTGGTCTGGTGGCTCAAGAATCCTCCCTGGTGACCCTGG... | pathogenic | 266,473 |
Determine whether the variant at chromosome 17, position 28534758, in gene FOXN1 (forkhead box N1) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['T-cell_immunodeficiency,_congenital_alopecia,_and_nail_dystrophy', 'T-cell_lymphopenia,_infantile,_with_or_without_nail_dystrophy,_autosomal_dominant'] | AGCTGCTGTGGGCATCCCATAGCCCCATGAGTCAGGGATGTGGGGCTGGGGAAGTGTCCAGCCACTGGACATAATTGTTAGTGCTGACCATCCCTCTTCCAAACAGGAAGTGGCTGGGGTGGGGGCTGCCCTGGCATCCCAAAGTCACAGATTCATGGGGCCATAAAAGGCCCCAGCGCCCATTAACTCCGCCCATGGGGCAACGTGGCCTTAACTCCTAGTGGAGACTGTGGTGGGAGTCGAAGGTGAATCCCTAGTTGGCTGGTCTGGTGGCTCAAGAATCCTCCCTGGTGACCCTGGGAGCCTTAGGGGTCATCTCA... | AGCTGCTGTGGGCATCCCATAGCCCCATGAGTCAGGGATGTGGGGCTGGGGAAGTGTCCAGCCACTGGACATAATTGTTAGTGCTGACCATCCCTCTTCCAAACAGGAAGTGGCTGGGGTGGGGGCTGCCCTGGCATCCCAAAGTCACAGATTCATGGGGCCATAAAAGGCCCCAGCGCCCATTAACTCCGCCCATGGGGCAACGTGGCCTTAACTCCTAGTGGAGACTGTGGTGGGAGTCGAAGGTGAATCCCTAGTTGGCTGGTCTGGTGGCTCAAGAATCCTCCCTGGTGACCCTGGGAGCCTTAGGGGTCATCTCA... | pathogenic | 266,475 |
Evaluate if the mutation on chromosome 17 at position 28534840 in FOXN1 (forkhead box N1) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['T-cell_immunodeficiency,_congenital_alopecia,_and_nail_dystrophy'] | GCTGACCATCCCTCTTCCAAACAGGAAGTGGCTGGGGTGGGGGCTGCCCTGGCATCCCAAAGTCACAGATTCATGGGGCCATAAAAGGCCCCAGCGCCCATTAACTCCGCCCATGGGGCAACGTGGCCTTAACTCCTAGTGGAGACTGTGGTGGGAGTCGAAGGTGAATCCCTAGTTGGCTGGTCTGGTGGCTCAAGAATCCTCCCTGGTGACCCTGGGAGCCTTAGGGGTCATCTCAACCAGCAACCTGCCCCAGGCCAGCTGCCCCCAAGAAAGGCTGCACCAGGTCCTGCCAGCCACTTGGAGTGACGCTGGCATCA... | GCTGACCATCCCTCTTCCAAACAGGAAGTGGCTGGGGTGGGGGCTGCCCTGGCATCCCAAAGTCACAGATTCATGGGGCCATAAAAGGCCCCAGCGCCCATTAACTCCGCCCATGGGGCAACGTGGCCTTAACTCCTAGTGGAGACTGTGGTGGGAGTCGAAGGTGAATCCCTAGTTGGCTGGTCTGGTGGCTCAAGAATCCTCCCTGGTGACCCTGGGAGCCTTAGGGGTCATCTCAACCAGCAACCTGCCCCAGGCCAGCTGCCCCCAAGAAAGGCTGCACCAGGTCCTGCCAGCCACTTGGAGTGACGCTGGCATCA... | pathogenic | 266,477 |
Assess the variant on chromosome 17, position 28534863, impacting FOXN1 (forkhead box N1): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['T-cell_immunodeficiency,_congenital_alopecia,_and_nail_dystrophy'] | GGAAGTGGCTGGGGTGGGGGCTGCCCTGGCATCCCAAAGTCACAGATTCATGGGGCCATAAAAGGCCCCAGCGCCCATTAACTCCGCCCATGGGGCAACGTGGCCTTAACTCCTAGTGGAGACTGTGGTGGGAGTCGAAGGTGAATCCCTAGTTGGCTGGTCTGGTGGCTCAAGAATCCTCCCTGGTGACCCTGGGAGCCTTAGGGGTCATCTCAACCAGCAACCTGCCCCAGGCCAGCTGCCCCCAAGAAAGGCTGCACCAGGTCCTGCCAGCCACTTGGAGTGACGCTGGCATCAAGACCCAGTTCTGCTGGGCATGA... | GGAAGTGGCTGGGGTGGGGGCTGCCCTGGCATCCCAAAGTCACAGATTCATGGGGCCATAAAAGGCCCCAGCGCCCATTAACTCCGCCCATGGGGCAACGTGGCCTTAACTCCTAGTGGAGACTGTGGTGGGAGTCGAAGGTGAATCCCTAGTTGGCTGGTCTGGTGGCTCAAGAATCCTCCCTGGTGACCCTGGGAGCCTTAGGGGTCATCTCAACCAGCAACCTGCCCCAGGCCAGCTGCCCCCAAGAAAGGCTGCACCAGGTCCTGCCAGCCACTTGGAGTGACGCTGGCATCAAGACCCAGTTCTGCTGGGCATGA... | pathogenic | 266,479 |
Does the chromosome 17 mutation at position 28534881 within gene FOXN1 (forkhead box N1) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['T-cell_immunodeficiency,_congenital_alopecia,_and_nail_dystrophy', 'T-cell_lymphopenia,_infantile,_with_or_without_nail_dystrophy,_autosomal_dominant'] | GGCTGCCCTGGCATCCCAAAGTCACAGATTCATGGGGCCATAAAAGGCCCCAGCGCCCATTAACTCCGCCCATGGGGCAACGTGGCCTTAACTCCTAGTGGAGACTGTGGTGGGAGTCGAAGGTGAATCCCTAGTTGGCTGGTCTGGTGGCTCAAGAATCCTCCCTGGTGACCCTGGGAGCCTTAGGGGTCATCTCAACCAGCAACCTGCCCCAGGCCAGCTGCCCCCAAGAAAGGCTGCACCAGGTCCTGCCAGCCACTTGGAGTGACGCTGGCATCAAGACCCAGTTCTGCTGGGCATGATTCAGCTTGGCTGCTCCC... | GGCTGCCCTGGCATCCCAAAGTCACAGATTCATGGGGCCATAAAAGGCCCCAGCGCCCATTAACTCCGCCCATGGGGCAACGTGGCCTTAACTCCTAGTGGAGACTGTGGTGGGAGTCGAAGGTGAATCCCTAGTTGGCTGGTCTGGTGGCTCAAGAATCCTCCCTGGTGACCCTGGGAGCCTTAGGGGTCATCTCAACCAGCAACCTGCCCCAGGCCAGCTGCCCCCAAGAAAGGCTGCACCAGGTCCTGCCAGCCACTTGGAGTGACGCTGGCATCAAGACCCAGTTCTGCTGGGCATGATTCAGCTTGGCTGCTCCC... | pathogenic | 266,480 |
Evaluate if the mutation on chromosome 17 at position 28534933 in FOXN1 (forkhead box N1) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['T-cell_immunodeficiency,_congenital_alopecia,_and_nail_dystrophy', 'T-cell_lymphopenia,_infantile,_with_or_without_nail_dystrophy,_autosomal_dominant'] | GCGCCCATTAACTCCGCCCATGGGGCAACGTGGCCTTAACTCCTAGTGGAGACTGTGGTGGGAGTCGAAGGTGAATCCCTAGTTGGCTGGTCTGGTGGCTCAAGAATCCTCCCTGGTGACCCTGGGAGCCTTAGGGGTCATCTCAACCAGCAACCTGCCCCAGGCCAGCTGCCCCCAAGAAAGGCTGCACCAGGTCCTGCCAGCCACTTGGAGTGACGCTGGCATCAAGACCCAGTTCTGCTGGGCATGATTCAGCTTGGCTGCTCCCTGGGGCAAGTGAGCTGAGGAGGAAGGAGTGGCCGCCCCTCATTAAGCAGAAA... | GCGCCCATTAACTCCGCCCATGGGGCAACGTGGCCTTAACTCCTAGTGGAGACTGTGGTGGGAGTCGAAGGTGAATCCCTAGTTGGCTGGTCTGGTGGCTCAAGAATCCTCCCTGGTGACCCTGGGAGCCTTAGGGGTCATCTCAACCAGCAACCTGCCCCAGGCCAGCTGCCCCCAAGAAAGGCTGCACCAGGTCCTGCCAGCCACTTGGAGTGACGCTGGCATCAAGACCCAGTTCTGCTGGGCATGATTCAGCTTGGCTGCTCCCTGGGGCAAGTGAGCTGAGGAGGAAGGAGTGGCCGCCCCTCATTAAGCAGAAA... | pathogenic | 266,481 |
Variant chromosome 17, position 28534940, gene FOXN1 (forkhead box N1): benign or pathogenic? Disease(s)? | pathogenic; ['T-cell_immunodeficiency,_congenital_alopecia,_and_nail_dystrophy', 'T-cell_lymphopenia,_infantile,_with_or_without_nail_dystrophy,_autosomal_dominant'] | TTAACTCCGCCCATGGGGCAACGTGGCCTTAACTCCTAGTGGAGACTGTGGTGGGAGTCGAAGGTGAATCCCTAGTTGGCTGGTCTGGTGGCTCAAGAATCCTCCCTGGTGACCCTGGGAGCCTTAGGGGTCATCTCAACCAGCAACCTGCCCCAGGCCAGCTGCCCCCAAGAAAGGCTGCACCAGGTCCTGCCAGCCACTTGGAGTGACGCTGGCATCAAGACCCAGTTCTGCTGGGCATGATTCAGCTTGGCTGCTCCCTGGGGCAAGTGAGCTGAGGAGGAAGGAGTGGCCGCCCCTCATTAAGCAGAAACTTTGGG... | TTAACTCCGCCCATGGGGCAACGTGGCCTTAACTCCTAGTGGAGACTGTGGTGGGAGTCGAAGGTGAATCCCTAGTTGGCTGGTCTGGTGGCTCAAGAATCCTCCCTGGTGACCCTGGGAGCCTTAGGGGTCATCTCAACCAGCAACCTGCCCCAGGCCAGCTGCCCCCAAGAAAGGCTGCACCAGGTCCTGCCAGCCACTTGGAGTGACGCTGGCATCAAGACCCAGTTCTGCTGGGCATGATTCAGCTTGGCTGCTCCCTGGGGCAAGTGAGCTGAGGAGGAAGGAGTGGCCGCCCCTCATTAAGCAGAAACTTTGGG... | pathogenic | 266,483 |
The mutation impacting FOXN1 (forkhead box N1) on chromosome 17 at position 28534959: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['T-cell_immunodeficiency,_congenital_alopecia,_and_nail_dystrophy', 'T-cell_lymphopenia,_infantile,_with_or_without_nail_dystrophy,_autosomal_dominant'] | AACGTGGCCTTAACTCCTAGTGGAGACTGTGGTGGGAGTCGAAGGTGAATCCCTAGTTGGCTGGTCTGGTGGCTCAAGAATCCTCCCTGGTGACCCTGGGAGCCTTAGGGGTCATCTCAACCAGCAACCTGCCCCAGGCCAGCTGCCCCCAAGAAAGGCTGCACCAGGTCCTGCCAGCCACTTGGAGTGACGCTGGCATCAAGACCCAGTTCTGCTGGGCATGATTCAGCTTGGCTGCTCCCTGGGGCAAGTGAGCTGAGGAGGAAGGAGTGGCCGCCCCTCATTAAGCAGAAACTTTGGGCTGAAAGGGGGAGGGGCCA... | AACGTGGCCTTAACTCCTAGTGGAGACTGTGGTGGGAGTCGAAGGTGAATCCCTAGTTGGCTGGTCTGGTGGCTCAAGAATCCTCCCTGGTGACCCTGGGAGCCTTAGGGGTCATCTCAACCAGCAACCTGCCCCAGGCCAGCTGCCCCCAAGAAAGGCTGCACCAGGTCCTGCCAGCCACTTGGAGTGACGCTGGCATCAAGACCCAGTTCTGCTGGGCATGATTCAGCTTGGCTGCTCCCTGGGGCAAGTGAGCTGAGGAGGAAGGAGTGGCCGCCCCTCATTAAGCAGAAACTTTGGGCTGAAAGGGGGAGGGGCCA... | pathogenic | 266,484 |
Variant at chromosome 17, position 28534986, gene FOXN1 (forkhead box N1): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['T-cell_immunodeficiency,_congenital_alopecia,_and_nail_dystrophy', 'T-cell_lymphopenia,_infantile,_with_or_without_nail_dystrophy,_autosomal_dominant'] | TGTGGTGGGAGTCGAAGGTGAATCCCTAGTTGGCTGGTCTGGTGGCTCAAGAATCCTCCCTGGTGACCCTGGGAGCCTTAGGGGTCATCTCAACCAGCAACCTGCCCCAGGCCAGCTGCCCCCAAGAAAGGCTGCACCAGGTCCTGCCAGCCACTTGGAGTGACGCTGGCATCAAGACCCAGTTCTGCTGGGCATGATTCAGCTTGGCTGCTCCCTGGGGCAAGTGAGCTGAGGAGGAAGGAGTGGCCGCCCCTCATTAAGCAGAAACTTTGGGCTGAAAGGGGGAGGGGCCAGGGAATGAGGGCGAAGGAGCCCCACCG... | TGTGGTGGGAGTCGAAGGTGAATCCCTAGTTGGCTGGTCTGGTGGCTCAAGAATCCTCCCTGGTGACCCTGGGAGCCTTAGGGGTCATCTCAACCAGCAACCTGCCCCAGGCCAGCTGCCCCCAAGAAAGGCTGCACCAGGTCCTGCCAGCCACTTGGAGTGACGCTGGCATCAAGACCCAGTTCTGCTGGGCATGATTCAGCTTGGCTGCTCCCTGGGGCAAGTGAGCTGAGGAGGAAGGAGTGGCCGCCCCTCATTAAGCAGAAACTTTGGGCTGAAAGGGGGAGGGGCCAGGGAATGAGGGCGAAGGAGCCCCACCG... | pathogenic | 266,485 |
Does the variant impacting FOXN1 (forkhead box N1) on chromosome 17, position 28535030, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['T-cell_immunodeficiency,_congenital_alopecia,_and_nail_dystrophy', 'T-cell_lymphopenia,_infantile,_with_or_without_nail_dystrophy,_autosomal_dominant'] | GCTCAAGAATCCTCCCTGGTGACCCTGGGAGCCTTAGGGGTCATCTCAACCAGCAACCTGCCCCAGGCCAGCTGCCCCCAAGAAAGGCTGCACCAGGTCCTGCCAGCCACTTGGAGTGACGCTGGCATCAAGACCCAGTTCTGCTGGGCATGATTCAGCTTGGCTGCTCCCTGGGGCAAGTGAGCTGAGGAGGAAGGAGTGGCCGCCCCTCATTAAGCAGAAACTTTGGGCTGAAAGGGGGAGGGGCCAGGGAATGAGGGCGAAGGAGCCCCACCGGCCAGAGCGAGTGCCCTACCCACAGTCAGCCCCTGCTGAACTCA... | GCTCAAGAATCCTCCCTGGTGACCCTGGGAGCCTTAGGGGTCATCTCAACCAGCAACCTGCCCCAGGCCAGCTGCCCCCAAGAAAGGCTGCACCAGGTCCTGCCAGCCACTTGGAGTGACGCTGGCATCAAGACCCAGTTCTGCTGGGCATGATTCAGCTTGGCTGCTCCCTGGGGCAAGTGAGCTGAGGAGGAAGGAGTGGCCGCCCCTCATTAAGCAGAAACTTTGGGCTGAAAGGGGGAGGGGCCAGGGAATGAGGGCGAAGGAGCCCCACCGGCCAGAGCGAGTGCCCTACCCACAGTCAGCCCCTGCTGAACTCA... | pathogenic | 266,489 |
Clinically, how would you classify the variant at chromosome 17, position 28535148, gene FOXN1 (forkhead box N1): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['T-cell_immunodeficiency,_congenital_alopecia,_and_nail_dystrophy'] | ACGCTGGCATCAAGACCCAGTTCTGCTGGGCATGATTCAGCTTGGCTGCTCCCTGGGGCAAGTGAGCTGAGGAGGAAGGAGTGGCCGCCCCTCATTAAGCAGAAACTTTGGGCTGAAAGGGGGAGGGGCCAGGGAATGAGGGCGAAGGAGCCCCACCGGCCAGAGCGAGTGCCCTACCCACAGTCAGCCCCTGCTGAACTCAGGGCTGTCACAGAGCCTGGAACAGAGCTGGAGGTGGGCGGGCAGGGGGCCCACTGGCACTCCCGCCACCGCCTCTCACCCAACTGAGTCAGCCTAATGGTTTTTACAACCCTCCCTGG... | ACGCTGGCATCAAGACCCAGTTCTGCTGGGCATGATTCAGCTTGGCTGCTCCCTGGGGCAAGTGAGCTGAGGAGGAAGGAGTGGCCGCCCCTCATTAAGCAGAAACTTTGGGCTGAAAGGGGGAGGGGCCAGGGAATGAGGGCGAAGGAGCCCCACCGGCCAGAGCGAGTGCCCTACCCACAGTCAGCCCCTGCTGAACTCAGGGCTGTCACAGAGCCTGGAACAGAGCTGGAGGTGGGCGGGCAGGGGGCCCACTGGCACTCCCGCCACCGCCTCTCACCCAACTGAGTCAGCCTAATGGTTTTTACAACCCTCCCTGG... | pathogenic | 266,491 |
Clinically, how would you classify the variant at chromosome 17, position 28535154, gene FOXN1 (forkhead box N1): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['T-cell_immunodeficiency,_congenital_alopecia,_and_nail_dystrophy', 'T-cell_lymphopenia,_infantile,_with_or_without_nail_dystrophy,_autosomal_dominant'] | GCATCAAGACCCAGTTCTGCTGGGCATGATTCAGCTTGGCTGCTCCCTGGGGCAAGTGAGCTGAGGAGGAAGGAGTGGCCGCCCCTCATTAAGCAGAAACTTTGGGCTGAAAGGGGGAGGGGCCAGGGAATGAGGGCGAAGGAGCCCCACCGGCCAGAGCGAGTGCCCTACCCACAGTCAGCCCCTGCTGAACTCAGGGCTGTCACAGAGCCTGGAACAGAGCTGGAGGTGGGCGGGCAGGGGGCCCACTGGCACTCCCGCCACCGCCTCTCACCCAACTGAGTCAGCCTAATGGTTTTTACAACCCTCCCTGGGCACAA... | GCATCAAGACCCAGTTCTGCTGGGCATGATTCAGCTTGGCTGCTCCCTGGGGCAAGTGAGCTGAGGAGGAAGGAGTGGCCGCCCCTCATTAAGCAGAAACTTTGGGCTGAAAGGGGGAGGGGCCAGGGAATGAGGGCGAAGGAGCCCCACCGGCCAGAGCGAGTGCCCTACCCACAGTCAGCCCCTGCTGAACTCAGGGCTGTCACAGAGCCTGGAACAGAGCTGGAGGTGGGCGGGCAGGGGGCCCACTGGCACTCCCGCCACCGCCTCTCACCCAACTGAGTCAGCCTAATGGTTTTTACAACCCTCCCTGGGCACAA... | pathogenic | 266,492 |
Clinical impact (benign or pathogenic) of the variant at chromosome 17, location 28739139, gene NEK8 (NIMA related kinase 8): what disease(s) if pathogenic? | pathogenic; ['Nephronophthisis_9', 'Renal-hepatic-pancreatic_dysplasia_2'] | CATTATTTCTGAGGGCTCTGTTCTGTTCCATTGGTCTATATCTCTGTTTTGGTACCAGTACCATGCTGTTTTGGTTACTGTAGCCTTGTAGTATAGTTTGAAGTCAGGTAGCATGATGCCTCCAGGCAAAGCTGTTATTATCCCAGGAGACCAGGGGCTGGAGCTGGGGGGTGCTGCCCTCACTTCCCCAAATTCTCAACCTGGTGCCTTCACAGAACTTGCCAGCACTGGTGCTGAAGATCATGAGTGGCACCTTTGCACCTATCTCTGACCGGTACAGCCCTGAGCTTCGCCAGCTGGTCCTGAGTCTACTCAGCCTG... | CATTATTTCTGAGGGCTCTGTTCTGTTCCATTGGTCTATATCTCTGTTTTGGTACCAGTACCATGCTGTTTTGGTTACTGTAGCCTTGTAGTATAGTTTGAAGTCAGGTAGCATGATGCCTCCAGGCAAAGCTGTTATTATCCCAGGAGACCAGGGGCTGGAGCTGGGGGGTGCTGCCCTCACTTCCCCAAATTCTCAACCTGGTGCCTTCACAGAACTTGCCAGCACTGGTGCTGAAGATCATGAGTGGCACCTTTGCACCTATCTCTGACCGGTACAGCCCTGAGCTTCGCCAGCTGGTCCTGAGTCTACTCAGCCTG... | pathogenic | 266,536 |
Variant at chromosome 17, position 28740987, gene NEK8 (NIMA related kinase 8): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | benign | CACCTGGCAGTGTGTATGGCTGGATTTAAAGACACAGCCACCTCCTGAGAATGTGTAGCCTCCAGCTTTGTCCCTACAGGGGGTGTTGAAGCCAGATGGCTCCAGACCCTTTGCCCAGTTTCTCCTTGCTTCCTCTCCTCTCTAGCCCACCATTGTGGAGGCTTTGCTGGGCTATGAAATGGTGCAGGTGGCCTGTGGGGCCTCTCACGTGCTGGCCCTGTCCACTGAGCGAGAACTATTTGCCTGGGGCCGTGGAGACAGCGGTAAGCTCCAGCCTTTAGGCCCCATCTCACAGCATCCTCAGCCATGACTTGCTCCCC... | CACCTGGCAGTGTGTATGGCTGGATTTAAAGACACAGCCACCTCCTGAGAATGTGTAGCCTCCAGCTTTGTCCCTACAGGGGGTGTTGAAGCCAGATGGCTCCAGACCCTTTGCCCAGTTTCTCCTTGCTTCCTCTCCTCTCTAGCCCACCATTGTGGAGGCTTTGCTGGGCTATGAAATGGTGCAGGTGGCCTGTGGGGCCTCTCACGTGCTGGCCCTGTCCACTGAGCGAGAACTATTTGCCTGGGGCCGTGGAGACAGCGGTAAGCTCCAGCCTTTAGGCCCCATCTCACAGCATCCTCAGCCATGACTTGCTCCCC... | benign | 266,542 |
Is the variant located on chromosome 17 at position 29252116, gene CRYBA1 (crystallin beta A1), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Cataract_10_multiple_types'] | CCAGGCTACAGCTGGTAACAGAAAGCACAGAGTCAGACTGAAGTTAAGCTGTTGACCTGGACCTCTGTTTTTCCTGATGTTCTAGCTCTCTTGCGCCATTCAATCTCATTTCAGATAACCATCTATGATCAGGAGAACTTTCAGGGCAAGAGGATGGAGTTCACCAGCTCCTGTCCAAATGTCTCTGAGCGCAGTTTTGATAATGTCCGGTCCCTGAAGGTGGAAAGTGGCGCGTGAGTATGGACTTCCGCAGAACCGCAGCCCCTTATTTCAGGTCCCTTCAGACAGGGGACCATAGAGTGGGGATAGGGGAAGAAGGA... | CCAGGCTACAGCTGGTAACAGAAAGCACAGAGTCAGACTGAAGTTAAGCTGTTGACCTGGACCTCTGTTTTTCCTGATGTTCTAGCTCTCTTGCGCCATTCAATCTCATTTCAGATAACCATCTATGATCAGGAGAACTTTCAGGGCAAGAGGATGGAGTTCACCAGCTCCTGTCCAAATGTCTCTGAGCGCAGTTTTGATAATGTCCGGTCCCTGAAGGTGGAAAGTGGCGCGTGAGTATGGACTTCCGCAGAACCGCAGCCCCTTATTTCAGGTCCCTTCAGACAGGGGACCATAGAGTGGGGATAGGGGAAGAAGGA... | pathogenic | 266,590 |
Is the genetic mutation found on chromosome 17 at position 31095317, within the gene NF1, considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Neurofibromatosis,_type_1'] | CTTGAGGCCAGGAGTTCCAGACCAGCCTGGGCAACATAGCAAGACTGTGTCTCTACCAAAAAAAAAAAAAAAAAAAAAATTAGCCAAAGCAGGGTGACACTCACCTGTAGTCCCAGCTATTCAGGAGCTTGAGGTGGGAGGATCACTTCGGCCCAGGAGTCTGAGGCTGGAGTGAGCTATGATTGAGCCACTGCACTCCACTGCACAGAGTCAGACCTTGTCTCTGAAAAACAAAAACATTTGCCTAGGTAAAATGTATCGAGGAAGACAAATTTTAAAATTACTCATTCCAGGCCAGGTGCGGTGGCTCACACCTGTAA... | CTTGAGGCCAGGAGTTCCAGACCAGCCTGGGCAACATAGCAAGACTGTGTCTCTACCAAAAAAAAAAAAAAAAAAAAAATTAGCCAAAGCAGGGTGACACTCACCTGTAGTCCCAGCTATTCAGGAGCTTGAGGTGGGAGGATCACTTCGGCCCAGGAGTCTGAGGCTGGAGTGAGCTATGATTGAGCCACTGCACTCCACTGCACAGAGTCAGACCTTGTCTCTGAAAAACAAAAACATTTGCCTAGGTAAAATGTATCGAGGAAGACAAATTTTAAAATTACTCATTCCAGGCCAGGTGCGGTGGCTCACACCTGTAA... | pathogenic | 266,668 |
Determine whether the variant at chromosome 17, position 31095370, in gene NF1 is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Neurofibromatosis,_type_1'] | TACCAAAAAAAAAAAAAAAAAAAAAATTAGCCAAAGCAGGGTGACACTCACCTGTAGTCCCAGCTATTCAGGAGCTTGAGGTGGGAGGATCACTTCGGCCCAGGAGTCTGAGGCTGGAGTGAGCTATGATTGAGCCACTGCACTCCACTGCACAGAGTCAGACCTTGTCTCTGAAAAACAAAAACATTTGCCTAGGTAAAATGTATCGAGGAAGACAAATTTTAAAATTACTCATTCCAGGCCAGGTGCGGTGGCTCACACCTGTAATCCCAGTACTTTGGGAGGCTGAGGTGGGCGGATCATGAGGTCAGGAGTTCAAG... | TACCAAAAAAAAAAAAAAAAAAAAAATTAGCCAAAGCAGGGTGACACTCACCTGTAGTCCCAGCTATTCAGGAGCTTGAGGTGGGAGGATCACTTCGGCCCAGGAGTCTGAGGCTGGAGTGAGCTATGATTGAGCCACTGCACTCCACTGCACAGAGTCAGACCTTGTCTCTGAAAAACAAAAACATTTGCCTAGGTAAAATGTATCGAGGAAGACAAATTTTAAAATTACTCATTCCAGGCCAGGTGCGGTGGCTCACACCTGTAATCCCAGTACTTTGGGAGGCTGAGGTGGGCGGATCATGAGGTCAGGAGTTCAAG... | pathogenic | 266,686 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 17, position 31155959, gene NF1 (neurofibromin 1). What disease(s) is it linked to if pathogenic? | benign | TCCCCAACCAGTTTTGTAACTATAAATGGTTTGTTTCTATTTGTTCACTTCTCTGGGTTTGGGAATGAGGGACCTTGTCCCTTCATTTTCATGTAGATATTCATCAGTTTGTGTTTTTACTAGAGAAGTTCTAGTTTCTTTGATTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCTGTTGCCTAGGCTGGAGTGCAGTGGTGCGATCTCAGCTCACTGCAGCCTCCACCTGCTGTTCAAGCCATTCTCGTGCCTCAGCCTCCCTAGTAGCTGGGATTACAGGCATGTGCCACCACGCTCGGCTAACTTTTTGT... | TCCCCAACCAGTTTTGTAACTATAAATGGTTTGTTTCTATTTGTTCACTTCTCTGGGTTTGGGAATGAGGGACCTTGTCCCTTCATTTTCATGTAGATATTCATCAGTTTGTGTTTTTACTAGAGAAGTTCTAGTTTCTTTGATTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCTGTTGCCTAGGCTGGAGTGCAGTGGTGCGATCTCAGCTCACTGCAGCCTCCACCTGCTGTTCAAGCCATTCTCGTGCCTCAGCCTCCCTAGTAGCTGGGATTACAGGCATGTGCCACCACGCTCGGCTAACTTTTTGT... | benign | 266,695 |
A genetic variant on chromosome 17, position 31155970, affects the gene NF1 (neurofibromin 1). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | benign | TTTTGTAACTATAAATGGTTTGTTTCTATTTGTTCACTTCTCTGGGTTTGGGAATGAGGGACCTTGTCCCTTCATTTTCATGTAGATATTCATCAGTTTGTGTTTTTACTAGAGAAGTTCTAGTTTCTTTGATTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCTGTTGCCTAGGCTGGAGTGCAGTGGTGCGATCTCAGCTCACTGCAGCCTCCACCTGCTGTTCAAGCCATTCTCGTGCCTCAGCCTCCCTAGTAGCTGGGATTACAGGCATGTGCCACCACGCTCGGCTAACTTTTTGTATTTTTAGTAG... | TTTTGTAACTATAAATGGTTTGTTTCTATTTGTTCACTTCTCTGGGTTTGGGAATGAGGGACCTTGTCCCTTCATTTTCATGTAGATATTCATCAGTTTGTGTTTTTACTAGAGAAGTTCTAGTTTCTTTGATTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCTGTTGCCTAGGCTGGAGTGCAGTGGTGCGATCTCAGCTCACTGCAGCCTCCACCTGCTGTTCAAGCCATTCTCGTGCCTCAGCCTCCCTAGTAGCTGGGATTACAGGCATGTGCCACCACGCTCGGCTAACTTTTTGTATTTTTAGTAG... | benign | 266,697 |
Evaluate this variant at chromosome 17, position 31155970, gene NF1 (neurofibromin 1): benign or pathogenic? If pathogenic, what are the disease connection(s)? | benign | TTTTGTAACTATAAATGGTTTGTTTCTATTTGTTCACTTCTCTGGGTTTGGGAATGAGGGACCTTGTCCCTTCATTTTCATGTAGATATTCATCAGTTTGTGTTTTTACTAGAGAAGTTCTAGTTTCTTTGATTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCTGTTGCCTAGGCTGGAGTGCAGTGGTGCGATCTCAGCTCACTGCAGCCTCCACCTGCTGTTCAAGCCATTCTCGTGCCTCAGCCTCCCTAGTAGCTGGGATTACAGGCATGTGCCACCACGCTCGGCTAACTTTTTGTATTTTTAGTAG... | TTTTGTAACTATAAATGGTTTGTTTCTATTTGTTCACTTCTCTGGGTTTGGGAATGAGGGACCTTGTCCCTTCATTTTCATGTAGATATTCATCAGTTTGTGTTTTTACTAGAGAAGTTCTAGTTTCTTTGATTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCTGTTGCCTAGGCTGGAGTGCAGTGGTGCGATCTCAGCTCACTGCAGCCTCCACCTGCTGTTCAAGCCATTCTCGTGCCTCAGCCTCCCTAGTAGCTGGGATTACAGGCATGTGCCACCACGCTCGGCTAACTTTTTGTATTTTTAGTAG... | benign | 266,698 |
A mutation at chromosome position 31155989 on chromosome 17 in gene NF1 (neurofibromin 1): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome', 'Neurofibromatosis,_type_1'] | TTGTTTCTATTTGTTCACTTCTCTGGGTTTGGGAATGAGGGACCTTGTCCCTTCATTTTCATGTAGATATTCATCAGTTTGTGTTTTTACTAGAGAAGTTCTAGTTTCTTTGATTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCTGTTGCCTAGGCTGGAGTGCAGTGGTGCGATCTCAGCTCACTGCAGCCTCCACCTGCTGTTCAAGCCATTCTCGTGCCTCAGCCTCCCTAGTAGCTGGGATTACAGGCATGTGCCACCACGCTCGGCTAACTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGT... | TTGTTTCTATTTGTTCACTTCTCTGGGTTTGGGAATGAGGGACCTTGTCCCTTCATTTTCATGTAGATATTCATCAGTTTGTGTTTTTACTAGAGAAGTTCTAGTTTCTTTGATTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCTGTTGCCTAGGCTGGAGTGCAGTGGTGCGATCTCAGCTCACTGCAGCCTCCACCTGCTGTTCAAGCCATTCTCGTGCCTCAGCCTCCCTAGTAGCTGGGATTACAGGCATGTGCCACCACGCTCGGCTAACTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGT... | pathogenic | 266,704 |
Evaluate if the mutation on chromosome 17 at position 31156007 in NF1 (neurofibromin 1) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Neurofibromatosis,_type_1'] | TTCTCTGGGTTTGGGAATGAGGGACCTTGTCCCTTCATTTTCATGTAGATATTCATCAGTTTGTGTTTTTACTAGAGAAGTTCTAGTTTCTTTGATTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCTGTTGCCTAGGCTGGAGTGCAGTGGTGCGATCTCAGCTCACTGCAGCCTCCACCTGCTGTTCAAGCCATTCTCGTGCCTCAGCCTCCCTAGTAGCTGGGATTACAGGCATGTGCCACCACGCTCGGCTAACTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGA... | TTCTCTGGGTTTGGGAATGAGGGACCTTGTCCCTTCATTTTCATGTAGATATTCATCAGTTTGTGTTTTTACTAGAGAAGTTCTAGTTTCTTTGATTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCTGTTGCCTAGGCTGGAGTGCAGTGGTGCGATCTCAGCTCACTGCAGCCTCCACCTGCTGTTCAAGCCATTCTCGTGCCTCAGCCTCCCTAGTAGCTGGGATTACAGGCATGTGCCACCACGCTCGGCTAACTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGA... | pathogenic | 266,710 |
Evaluate the clinical significance of the mutation at chromosome 17, position 31156018 in gene NF1 (neurofibromin 1): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome', 'Neurofibromatosis,_type_1'] | TGGGAATGAGGGACCTTGTCCCTTCATTTTCATGTAGATATTCATCAGTTTGTGTTTTTACTAGAGAAGTTCTAGTTTCTTTGATTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCTGTTGCCTAGGCTGGAGTGCAGTGGTGCGATCTCAGCTCACTGCAGCCTCCACCTGCTGTTCAAGCCATTCTCGTGCCTCAGCCTCCCTAGTAGCTGGGATTACAGGCATGTGCCACCACGCTCGGCTAACTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTTTTGACCT... | TGGGAATGAGGGACCTTGTCCCTTCATTTTCATGTAGATATTCATCAGTTTGTGTTTTTACTAGAGAAGTTCTAGTTTCTTTGATTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCTGTTGCCTAGGCTGGAGTGCAGTGGTGCGATCTCAGCTCACTGCAGCCTCCACCTGCTGTTCAAGCCATTCTCGTGCCTCAGCCTCCCTAGTAGCTGGGATTACAGGCATGTGCCACCACGCTCGGCTAACTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTTTTGACCT... | pathogenic | 266,712 |
Variant in gene NF1 (neurofibromin 1), located at chromosome 17 position 31156067: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Juvenile_myelomonocytic_leukemia', 'Neurofibromatosis,_type_1'] | TTGTGTTTTTACTAGAGAAGTTCTAGTTTCTTTGATTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCTGTTGCCTAGGCTGGAGTGCAGTGGTGCGATCTCAGCTCACTGCAGCCTCCACCTGCTGTTCAAGCCATTCTCGTGCCTCAGCCTCCCTAGTAGCTGGGATTACAGGCATGTGCCACCACGCTCGGCTAACTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTTTTGACCTCAAGTGATCCACCTGCCTTGGTCTCCCAAAGTTCTGGGATTACAAATGT... | TTGTGTTTTTACTAGAGAAGTTCTAGTTTCTTTGATTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCTGTTGCCTAGGCTGGAGTGCAGTGGTGCGATCTCAGCTCACTGCAGCCTCCACCTGCTGTTCAAGCCATTCTCGTGCCTCAGCCTCCCTAGTAGCTGGGATTACAGGCATGTGCCACCACGCTCGGCTAACTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTTTTGACCTCAAGTGATCCACCTGCCTTGGTCTCCCAAAGTTCTGGGATTACAAATGT... | pathogenic | 266,729 |
Determine if the mutation at chromosome 17, position 31156107 in gene NF1 (neurofibromin 1) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome', 'Neurofibromatosis,_type_1'] | TTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCTGTTGCCTAGGCTGGAGTGCAGTGGTGCGATCTCAGCTCACTGCAGCCTCCACCTGCTGTTCAAGCCATTCTCGTGCCTCAGCCTCCCTAGTAGCTGGGATTACAGGCATGTGCCACCACGCTCGGCTAACTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTTTTGACCTCAAGTGATCCACCTGCCTTGGTCTCCCAAAGTTCTGGGATTACAAATGTGAGCCACCGCACCTGGCCATTTCTCTGATTTTTATGGGAT... | TTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCTGTTGCCTAGGCTGGAGTGCAGTGGTGCGATCTCAGCTCACTGCAGCCTCCACCTGCTGTTCAAGCCATTCTCGTGCCTCAGCCTCCCTAGTAGCTGGGATTACAGGCATGTGCCACCACGCTCGGCTAACTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTTTTGACCTCAAGTGATCCACCTGCCTTGGTCTCCCAAAGTTCTGGGATTACAAATGTGAGCCACCGCACCTGGCCATTTCTCTGATTTTTATGGGAT... | pathogenic | 266,741 |
Evaluate the clinical significance of the mutation at chromosome 17, position 31156126 in gene NF1 (neurofibromin 1): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome', 'Neurofibromatosis,_type_1'] | TTGAGACAGAGTCTCTGTTGCCTAGGCTGGAGTGCAGTGGTGCGATCTCAGCTCACTGCAGCCTCCACCTGCTGTTCAAGCCATTCTCGTGCCTCAGCCTCCCTAGTAGCTGGGATTACAGGCATGTGCCACCACGCTCGGCTAACTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTTTTGACCTCAAGTGATCCACCTGCCTTGGTCTCCCAAAGTTCTGGGATTACAAATGTGAGCCACCGCACCTGGCCATTTCTCTGATTTTTATGGGATACTTAGGGAGATTCACCAG... | TTGAGACAGAGTCTCTGTTGCCTAGGCTGGAGTGCAGTGGTGCGATCTCAGCTCACTGCAGCCTCCACCTGCTGTTCAAGCCATTCTCGTGCCTCAGCCTCCCTAGTAGCTGGGATTACAGGCATGTGCCACCACGCTCGGCTAACTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTTTTGACCTCAAGTGATCCACCTGCCTTGGTCTCCCAAAGTTCTGGGATTACAAATGTGAGCCACCGCACCTGGCCATTTCTCTGATTTTTATGGGATACTTAGGGAGATTCACCAG... | pathogenic | 266,742 |
Gene NF1 (neurofibromin 1) variant at chromosome position 31159007 on chromosome 17: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome', 'Neurofibromatosis,_type_1'] | GCATTTATTTATTTATTTATGAATGAATAAATGAATGAATGAATGAATGACAGGGTCTCATTCTGTCACCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTTACTGTAACCTCCCCCTTCCCAGTTCAAGTGATTTTGCTGCCTCAGGCTCCCCAGTAGCTGGAATTACAGGCATGTGCCACCATGCTCGGCTAATTTTTTTGTATTTTTAGTAGAGACGAGGTTTCACTATTTTGGCCAGGCTGGTCTCAAACTCCTGACATTAGGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGAGATTACAGGTGTGAGCCACC... | GCATTTATTTATTTATTTATGAATGAATAAATGAATGAATGAATGAATGACAGGGTCTCATTCTGTCACCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTTACTGTAACCTCCCCCTTCCCAGTTCAAGTGATTTTGCTGCCTCAGGCTCCCCAGTAGCTGGAATTACAGGCATGTGCCACCATGCTCGGCTAATTTTTTTGTATTTTTAGTAGAGACGAGGTTTCACTATTTTGGCCAGGCTGGTCTCAAACTCCTGACATTAGGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGAGATTACAGGTGTGAGCCACC... | pathogenic | 266,746 |
Gene mutation in NF1 (neurofibromin 1) at chromosome 17, position 31159031—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Neurofibromatosis,_type_1'] | GAATAAATGAATGAATGAATGAATGACAGGGTCTCATTCTGTCACCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTTACTGTAACCTCCCCCTTCCCAGTTCAAGTGATTTTGCTGCCTCAGGCTCCCCAGTAGCTGGAATTACAGGCATGTGCCACCATGCTCGGCTAATTTTTTTGTATTTTTAGTAGAGACGAGGTTTCACTATTTTGGCCAGGCTGGTCTCAAACTCCTGACATTAGGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGAGATTACAGGTGTGAGCCACCGCGCCCAGCCTGCATTTATAATCC... | GAATAAATGAATGAATGAATGAATGACAGGGTCTCATTCTGTCACCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTTACTGTAACCTCCCCCTTCCCAGTTCAAGTGATTTTGCTGCCTCAGGCTCCCCAGTAGCTGGAATTACAGGCATGTGCCACCATGCTCGGCTAATTTTTTTGTATTTTTAGTAGAGACGAGGTTTCACTATTTTGGCCAGGCTGGTCTCAAACTCCTGACATTAGGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGAGATTACAGGTGTGAGCCACCGCGCCCAGCCTGCATTTATAATCC... | pathogenic | 266,751 |
Is the chromosome 17, position 31159040 variant in NF1 (neurofibromin 1) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome', 'Neurofibromatosis,_type_1'] | AATGAATGAATGAATGACAGGGTCTCATTCTGTCACCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTTACTGTAACCTCCCCCTTCCCAGTTCAAGTGATTTTGCTGCCTCAGGCTCCCCAGTAGCTGGAATTACAGGCATGTGCCACCATGCTCGGCTAATTTTTTTGTATTTTTAGTAGAGACGAGGTTTCACTATTTTGGCCAGGCTGGTCTCAAACTCCTGACATTAGGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGAGATTACAGGTGTGAGCCACCGCGCCCAGCCTGCATTTATAATCCCAGTTTGTA... | AATGAATGAATGAATGACAGGGTCTCATTCTGTCACCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTTACTGTAACCTCCCCCTTCCCAGTTCAAGTGATTTTGCTGCCTCAGGCTCCCCAGTAGCTGGAATTACAGGCATGTGCCACCATGCTCGGCTAATTTTTTTGTATTTTTAGTAGAGACGAGGTTTCACTATTTTGGCCAGGCTGGTCTCAAACTCCTGACATTAGGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGAGATTACAGGTGTGAGCCACCGCGCCCAGCCTGCATTTATAATCCCAGTTTGTA... | pathogenic | 266,754 |
For chromosome 17, position 31159041, gene NF1 (neurofibromin 1): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome', 'Neurofibromatosis,_type_1'] | ATGAATGAATGAATGACAGGGTCTCATTCTGTCACCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTTACTGTAACCTCCCCCTTCCCAGTTCAAGTGATTTTGCTGCCTCAGGCTCCCCAGTAGCTGGAATTACAGGCATGTGCCACCATGCTCGGCTAATTTTTTTGTATTTTTAGTAGAGACGAGGTTTCACTATTTTGGCCAGGCTGGTCTCAAACTCCTGACATTAGGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGAGATTACAGGTGTGAGCCACCGCGCCCAGCCTGCATTTATAATCCCAGTTTGTAT... | ATGAATGAATGAATGACAGGGTCTCATTCTGTCACCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTTACTGTAACCTCCCCCTTCCCAGTTCAAGTGATTTTGCTGCCTCAGGCTCCCCAGTAGCTGGAATTACAGGCATGTGCCACCATGCTCGGCTAATTTTTTTGTATTTTTAGTAGAGACGAGGTTTCACTATTTTGGCCAGGCTGGTCTCAAACTCCTGACATTAGGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGAGATTACAGGTGTGAGCCACCGCGCCCAGCCTGCATTTATAATCCCAGTTTGTAT... | pathogenic | 266,756 |
The chromosome 17, position 31159044 genetic variant in gene NF1 (neurofibromin 1): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome', 'Neurofibromatosis,_type_1'] | AATGAATGAATGACAGGGTCTCATTCTGTCACCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTTACTGTAACCTCCCCCTTCCCAGTTCAAGTGATTTTGCTGCCTCAGGCTCCCCAGTAGCTGGAATTACAGGCATGTGCCACCATGCTCGGCTAATTTTTTTGTATTTTTAGTAGAGACGAGGTTTCACTATTTTGGCCAGGCTGGTCTCAAACTCCTGACATTAGGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGAGATTACAGGTGTGAGCCACCGCGCCCAGCCTGCATTTATAATCCCAGTTTGTATTTG... | AATGAATGAATGACAGGGTCTCATTCTGTCACCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTTACTGTAACCTCCCCCTTCCCAGTTCAAGTGATTTTGCTGCCTCAGGCTCCCCAGTAGCTGGAATTACAGGCATGTGCCACCATGCTCGGCTAATTTTTTTGTATTTTTAGTAGAGACGAGGTTTCACTATTTTGGCCAGGCTGGTCTCAAACTCCTGACATTAGGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGAGATTACAGGTGTGAGCCACCGCGCCCAGCCTGCATTTATAATCCCAGTTTGTATTTG... | pathogenic | 266,758 |
Variant at chromosome position 31159044, chromosome 17, gene NF1 (neurofibromin 1): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome', 'Juvenile_myelomonocytic_leukemia', 'Neurofibromatosis,_type_1'] | AATGAATGAATGACAGGGTCTCATTCTGTCACCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTTACTGTAACCTCCCCCTTCCCAGTTCAAGTGATTTTGCTGCCTCAGGCTCCCCAGTAGCTGGAATTACAGGCATGTGCCACCATGCTCGGCTAATTTTTTTGTATTTTTAGTAGAGACGAGGTTTCACTATTTTGGCCAGGCTGGTCTCAAACTCCTGACATTAGGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGAGATTACAGGTGTGAGCCACCGCGCCCAGCCTGCATTTATAATCCCAGTTTGTATTTG... | AATGAATGAATGACAGGGTCTCATTCTGTCACCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTTACTGTAACCTCCCCCTTCCCAGTTCAAGTGATTTTGCTGCCTCAGGCTCCCCAGTAGCTGGAATTACAGGCATGTGCCACCATGCTCGGCTAATTTTTTTGTATTTTTAGTAGAGACGAGGTTTCACTATTTTGGCCAGGCTGGTCTCAAACTCCTGACATTAGGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGAGATTACAGGTGTGAGCCACCGCGCCCAGCCTGCATTTATAATCCCAGTTTGTATTTG... | pathogenic | 266,759 |
Clinically, how would you classify the variant at chromosome 17, position 31159076, gene NF1 (neurofibromin 1): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome', 'Neurofibromatosis,_type_1'] | CCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTTACTGTAACCTCCCCCTTCCCAGTTCAAGTGATTTTGCTGCCTCAGGCTCCCCAGTAGCTGGAATTACAGGCATGTGCCACCATGCTCGGCTAATTTTTTTGTATTTTTAGTAGAGACGAGGTTTCACTATTTTGGCCAGGCTGGTCTCAAACTCCTGACATTAGGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGAGATTACAGGTGTGAGCCACCGCGCCCAGCCTGCATTTATAATCCCAGTTTGTATTTGTTTGTATTGAGTTGTGAAACAACTTCTGGTTA... | CCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTTACTGTAACCTCCCCCTTCCCAGTTCAAGTGATTTTGCTGCCTCAGGCTCCCCAGTAGCTGGAATTACAGGCATGTGCCACCATGCTCGGCTAATTTTTTTGTATTTTTAGTAGAGACGAGGTTTCACTATTTTGGCCAGGCTGGTCTCAAACTCCTGACATTAGGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGAGATTACAGGTGTGAGCCACCGCGCCCAGCCTGCATTTATAATCCCAGTTTGTATTTGTTTGTATTGAGTTGTGAAACAACTTCTGGTTA... | pathogenic | 266,770 |
Is the chromosome 17, position 31159090 variant in NF1 (neurofibromin 1) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Café-au-lait_macules_with_pulmonary_stenosis', 'Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome', 'Neurofibromatosis,_type_1'] | AGTGGCGCAATCTCGGCTTACTGTAACCTCCCCCTTCCCAGTTCAAGTGATTTTGCTGCCTCAGGCTCCCCAGTAGCTGGAATTACAGGCATGTGCCACCATGCTCGGCTAATTTTTTTGTATTTTTAGTAGAGACGAGGTTTCACTATTTTGGCCAGGCTGGTCTCAAACTCCTGACATTAGGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGAGATTACAGGTGTGAGCCACCGCGCCCAGCCTGCATTTATAATCCCAGTTTGTATTTGTTTGTATTGAGTTGTGAAACAACTTCTGGTTATAGATTGTGAAGAT... | AGTGGCGCAATCTCGGCTTACTGTAACCTCCCCCTTCCCAGTTCAAGTGATTTTGCTGCCTCAGGCTCCCCAGTAGCTGGAATTACAGGCATGTGCCACCATGCTCGGCTAATTTTTTTGTATTTTTAGTAGAGACGAGGTTTCACTATTTTGGCCAGGCTGGTCTCAAACTCCTGACATTAGGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGAGATTACAGGTGTGAGCCACCGCGCCCAGCCTGCATTTATAATCCCAGTTTGTATTTGTTTGTATTGAGTTGTGAAACAACTTCTGGTTATAGATTGTGAAGAT... | pathogenic | 266,776 |
Is the variant located on chromosome 17 at position 31163213, gene NF1 (neurofibromin 1), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome'] | TAGAATTTGAGGAATCTTAAGTATTTTTGTTCCTGTGAATATGACTATTATTTAAAAGATTTAATACTTCTTAGATTTTTATTTGTTAGAGTTAACATCTGTATTGTTTGGTTAGCCTATAAACAAGAAATAGGCATTGTAATGTGAATTCACAGGTTTTTGTGAAGTCTGTTTATGTACTGTCCCTATGTTTCAGTGTATTTGCATCTGAGAGTGCTTGGATTGCAGTTACAGAATTGAGCGTAGCATACAATTGTACACATTTTTGTTCTTTGCCATCTTGCTCAGTGTTATTAAAATTCTTATCCGCATGTAGTTAT... | TAGAATTTGAGGAATCTTAAGTATTTTTGTTCCTGTGAATATGACTATTATTTAAAAGATTTAATACTTCTTAGATTTTTATTTGTTAGAGTTAACATCTGTATTGTTTGGTTAGCCTATAAACAAGAAATAGGCATTGTAATGTGAATTCACAGGTTTTTGTGAAGTCTGTTTATGTACTGTCCCTATGTTTCAGTGTATTTGCATCTGAGAGTGCTTGGATTGCAGTTACAGAATTGAGCGTAGCATACAATTGTACACATTTTTGTTCTTTGCCATCTTGCTCAGTGTTATTAAAATTCTTATCCGCATGTAGTTAT... | pathogenic | 266,795 |
Gene mutation in NF1 (neurofibromin 1) at chromosome 17, position 31163226—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Neurofibromatosis,_type_1'] | ATCTTAAGTATTTTTGTTCCTGTGAATATGACTATTATTTAAAAGATTTAATACTTCTTAGATTTTTATTTGTTAGAGTTAACATCTGTATTGTTTGGTTAGCCTATAAACAAGAAATAGGCATTGTAATGTGAATTCACAGGTTTTTGTGAAGTCTGTTTATGTACTGTCCCTATGTTTCAGTGTATTTGCATCTGAGAGTGCTTGGATTGCAGTTACAGAATTGAGCGTAGCATACAATTGTACACATTTTTGTTCTTTGCCATCTTGCTCAGTGTTATTAAAATTCTTATCCGCATGTAGTTATCAAGACTGTTAGG... | ATCTTAAGTATTTTTGTTCCTGTGAATATGACTATTATTTAAAAGATTTAATACTTCTTAGATTTTTATTTGTTAGAGTTAACATCTGTATTGTTTGGTTAGCCTATAAACAAGAAATAGGCATTGTAATGTGAATTCACAGGTTTTTGTGAAGTCTGTTTATGTACTGTCCCTATGTTTCAGTGTATTTGCATCTGAGAGTGCTTGGATTGCAGTTACAGAATTGAGCGTAGCATACAATTGTACACATTTTTGTTCTTTGCCATCTTGCTCAGTGTTATTAAAATTCTTATCCGCATGTAGTTATCAAGACTGTTAGG... | pathogenic | 266,799 |
Variant at chromosome position 31163227, chromosome 17, gene NF1 (neurofibromin 1): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Neurofibromatosis,_type_1'] | TCTTAAGTATTTTTGTTCCTGTGAATATGACTATTATTTAAAAGATTTAATACTTCTTAGATTTTTATTTGTTAGAGTTAACATCTGTATTGTTTGGTTAGCCTATAAACAAGAAATAGGCATTGTAATGTGAATTCACAGGTTTTTGTGAAGTCTGTTTATGTACTGTCCCTATGTTTCAGTGTATTTGCATCTGAGAGTGCTTGGATTGCAGTTACAGAATTGAGCGTAGCATACAATTGTACACATTTTTGTTCTTTGCCATCTTGCTCAGTGTTATTAAAATTCTTATCCGCATGTAGTTATCAAGACTGTTAGGT... | TCTTAAGTATTTTTGTTCCTGTGAATATGACTATTATTTAAAAGATTTAATACTTCTTAGATTTTTATTTGTTAGAGTTAACATCTGTATTGTTTGGTTAGCCTATAAACAAGAAATAGGCATTGTAATGTGAATTCACAGGTTTTTGTGAAGTCTGTTTATGTACTGTCCCTATGTTTCAGTGTATTTGCATCTGAGAGTGCTTGGATTGCAGTTACAGAATTGAGCGTAGCATACAATTGTACACATTTTTGTTCTTTGCCATCTTGCTCAGTGTTATTAAAATTCTTATCCGCATGTAGTTATCAAGACTGTTAGGT... | pathogenic | 266,800 |
Is the genetic variant on chromosome 17, position 31163233, gene NF1 (neurofibromin 1), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome', 'NF1-related_disorder', 'Neurofibromatosis,_type_1'] | GTATTTTTGTTCCTGTGAATATGACTATTATTTAAAAGATTTAATACTTCTTAGATTTTTATTTGTTAGAGTTAACATCTGTATTGTTTGGTTAGCCTATAAACAAGAAATAGGCATTGTAATGTGAATTCACAGGTTTTTGTGAAGTCTGTTTATGTACTGTCCCTATGTTTCAGTGTATTTGCATCTGAGAGTGCTTGGATTGCAGTTACAGAATTGAGCGTAGCATACAATTGTACACATTTTTGTTCTTTGCCATCTTGCTCAGTGTTATTAAAATTCTTATCCGCATGTAGTTATCAAGACTGTTAGGTGAAATA... | GTATTTTTGTTCCTGTGAATATGACTATTATTTAAAAGATTTAATACTTCTTAGATTTTTATTTGTTAGAGTTAACATCTGTATTGTTTGGTTAGCCTATAAACAAGAAATAGGCATTGTAATGTGAATTCACAGGTTTTTGTGAAGTCTGTTTATGTACTGTCCCTATGTTTCAGTGTATTTGCATCTGAGAGTGCTTGGATTGCAGTTACAGAATTGAGCGTAGCATACAATTGTACACATTTTTGTTCTTTGCCATCTTGCTCAGTGTTATTAAAATTCTTATCCGCATGTAGTTATCAAGACTGTTAGGTGAAATA... | pathogenic | 266,802 |
Chromosome 17, position 31163233, gene NF1 (neurofibromin 1): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic | GTATTTTTGTTCCTGTGAATATGACTATTATTTAAAAGATTTAATACTTCTTAGATTTTTATTTGTTAGAGTTAACATCTGTATTGTTTGGTTAGCCTATAAACAAGAAATAGGCATTGTAATGTGAATTCACAGGTTTTTGTGAAGTCTGTTTATGTACTGTCCCTATGTTTCAGTGTATTTGCATCTGAGAGTGCTTGGATTGCAGTTACAGAATTGAGCGTAGCATACAATTGTACACATTTTTGTTCTTTGCCATCTTGCTCAGTGTTATTAAAATTCTTATCCGCATGTAGTTATCAAGACTGTTAGGTGAAATA... | GTATTTTTGTTCCTGTGAATATGACTATTATTTAAAAGATTTAATACTTCTTAGATTTTTATTTGTTAGAGTTAACATCTGTATTGTTTGGTTAGCCTATAAACAAGAAATAGGCATTGTAATGTGAATTCACAGGTTTTTGTGAAGTCTGTTTATGTACTGTCCCTATGTTTCAGTGTATTTGCATCTGAGAGTGCTTGGATTGCAGTTACAGAATTGAGCGTAGCATACAATTGTACACATTTTTGTTCTTTGCCATCTTGCTCAGTGTTATTAAAATTCTTATCCGCATGTAGTTATCAAGACTGTTAGGTGAAATA... | pathogenic | 266,803 |
Variant at chromosome position 31163235, chromosome 17, gene NF1 (neurofibromin 1): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Neurofibromatosis,_type_1'] | ATTTTTGTTCCTGTGAATATGACTATTATTTAAAAGATTTAATACTTCTTAGATTTTTATTTGTTAGAGTTAACATCTGTATTGTTTGGTTAGCCTATAAACAAGAAATAGGCATTGTAATGTGAATTCACAGGTTTTTGTGAAGTCTGTTTATGTACTGTCCCTATGTTTCAGTGTATTTGCATCTGAGAGTGCTTGGATTGCAGTTACAGAATTGAGCGTAGCATACAATTGTACACATTTTTGTTCTTTGCCATCTTGCTCAGTGTTATTAAAATTCTTATCCGCATGTAGTTATCAAGACTGTTAGGTGAAATAGT... | ATTTTTGTTCCTGTGAATATGACTATTATTTAAAAGATTTAATACTTCTTAGATTTTTATTTGTTAGAGTTAACATCTGTATTGTTTGGTTAGCCTATAAACAAGAAATAGGCATTGTAATGTGAATTCACAGGTTTTTGTGAAGTCTGTTTATGTACTGTCCCTATGTTTCAGTGTATTTGCATCTGAGAGTGCTTGGATTGCAGTTACAGAATTGAGCGTAGCATACAATTGTACACATTTTTGTTCTTTGCCATCTTGCTCAGTGTTATTAAAATTCTTATCCGCATGTAGTTATCAAGACTGTTAGGTGAAATAGT... | pathogenic | 266,804 |
Considering the variant on chromosome 17, location 31163313, involving gene NF1 (neurofibromin 1), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Neurofibromatosis,_type_1'] | GTATTGTTTGGTTAGCCTATAAACAAGAAATAGGCATTGTAATGTGAATTCACAGGTTTTTGTGAAGTCTGTTTATGTACTGTCCCTATGTTTCAGTGTATTTGCATCTGAGAGTGCTTGGATTGCAGTTACAGAATTGAGCGTAGCATACAATTGTACACATTTTTGTTCTTTGCCATCTTGCTCAGTGTTATTAAAATTCTTATCCGCATGTAGTTATCAAGACTGTTAGGTGAAATAGTAATGTGGAACAGCATACCTACAGGATAGCTTATCCATTGATTGTGTGTTAATTGTAAAGTATATATTTACAAAGTAGA... | GTATTGTTTGGTTAGCCTATAAACAAGAAATAGGCATTGTAATGTGAATTCACAGGTTTTTGTGAAGTCTGTTTATGTACTGTCCCTATGTTTCAGTGTATTTGCATCTGAGAGTGCTTGGATTGCAGTTACAGAATTGAGCGTAGCATACAATTGTACACATTTTTGTTCTTTGCCATCTTGCTCAGTGTTATTAAAATTCTTATCCGCATGTAGTTATCAAGACTGTTAGGTGAAATAGTAATGTGGAACAGCATACCTACAGGATAGCTTATCCATTGATTGTGTGTTAATTGTAAAGTATATATTTACAAAGTAGA... | pathogenic | 266,820 |
Benign or pathogenic: chromosome 17, position 31163314, gene NF1 (neurofibromin 1) variant? Disease(s) if pathogenic? | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome', 'Neurofibromatosis,_type_1'] | TATTGTTTGGTTAGCCTATAAACAAGAAATAGGCATTGTAATGTGAATTCACAGGTTTTTGTGAAGTCTGTTTATGTACTGTCCCTATGTTTCAGTGTATTTGCATCTGAGAGTGCTTGGATTGCAGTTACAGAATTGAGCGTAGCATACAATTGTACACATTTTTGTTCTTTGCCATCTTGCTCAGTGTTATTAAAATTCTTATCCGCATGTAGTTATCAAGACTGTTAGGTGAAATAGTAATGTGGAACAGCATACCTACAGGATAGCTTATCCATTGATTGTGTGTTAATTGTAAAGTATATATTTACAAAGTAGAG... | TATTGTTTGGTTAGCCTATAAACAAGAAATAGGCATTGTAATGTGAATTCACAGGTTTTTGTGAAGTCTGTTTATGTACTGTCCCTATGTTTCAGTGTATTTGCATCTGAGAGTGCTTGGATTGCAGTTACAGAATTGAGCGTAGCATACAATTGTACACATTTTTGTTCTTTGCCATCTTGCTCAGTGTTATTAAAATTCTTATCCGCATGTAGTTATCAAGACTGTTAGGTGAAATAGTAATGTGGAACAGCATACCTACAGGATAGCTTATCCATTGATTGTGTGTTAATTGTAAAGTATATATTTACAAAGTAGAG... | pathogenic | 266,822 |
The genetic variant at chromosome 17, position 31163344, affecting gene NF1 (neurofibromin 1): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Juvenile_myelomonocytic_leukemia', 'Neurofibromatosis,_type_1'] | AGGCATTGTAATGTGAATTCACAGGTTTTTGTGAAGTCTGTTTATGTACTGTCCCTATGTTTCAGTGTATTTGCATCTGAGAGTGCTTGGATTGCAGTTACAGAATTGAGCGTAGCATACAATTGTACACATTTTTGTTCTTTGCCATCTTGCTCAGTGTTATTAAAATTCTTATCCGCATGTAGTTATCAAGACTGTTAGGTGAAATAGTAATGTGGAACAGCATACCTACAGGATAGCTTATCCATTGATTGTGTGTTAATTGTAAAGTATATATTTACAAAGTAGAGATTTCACTGTTAACACCGAAGTTATCAAAC... | AGGCATTGTAATGTGAATTCACAGGTTTTTGTGAAGTCTGTTTATGTACTGTCCCTATGTTTCAGTGTATTTGCATCTGAGAGTGCTTGGATTGCAGTTACAGAATTGAGCGTAGCATACAATTGTACACATTTTTGTTCTTTGCCATCTTGCTCAGTGTTATTAAAATTCTTATCCGCATGTAGTTATCAAGACTGTTAGGTGAAATAGTAATGTGGAACAGCATACCTACAGGATAGCTTATCCATTGATTGTGTGTTAATTGTAAAGTATATATTTACAAAGTAGAGATTTCACTGTTAACACCGAAGTTATCAAAC... | pathogenic | 266,827 |
Gene NF1 (neurofibromin 1) variant at chromosome 17, position 31163356—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome', 'Neurofibromatosis,_type_1'] | GTGAATTCACAGGTTTTTGTGAAGTCTGTTTATGTACTGTCCCTATGTTTCAGTGTATTTGCATCTGAGAGTGCTTGGATTGCAGTTACAGAATTGAGCGTAGCATACAATTGTACACATTTTTGTTCTTTGCCATCTTGCTCAGTGTTATTAAAATTCTTATCCGCATGTAGTTATCAAGACTGTTAGGTGAAATAGTAATGTGGAACAGCATACCTACAGGATAGCTTATCCATTGATTGTGTGTTAATTGTAAAGTATATATTTACAAAGTAGAGATTTCACTGTTAACACCGAAGTTATCAAACTTGGTGTCAATA... | GTGAATTCACAGGTTTTTGTGAAGTCTGTTTATGTACTGTCCCTATGTTTCAGTGTATTTGCATCTGAGAGTGCTTGGATTGCAGTTACAGAATTGAGCGTAGCATACAATTGTACACATTTTTGTTCTTTGCCATCTTGCTCAGTGTTATTAAAATTCTTATCCGCATGTAGTTATCAAGACTGTTAGGTGAAATAGTAATGTGGAACAGCATACCTACAGGATAGCTTATCCATTGATTGTGTGTTAATTGTAAAGTATATATTTACAAAGTAGAGATTTCACTGTTAACACCGAAGTTATCAAACTTGGTGTCAATA... | pathogenic | 266,832 |
Regarding the variant at chromosome 17 and position 31169905, affecting gene NF1 (neurofibromin 1): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Cardiovascular_phenotype', 'Gastric_cancer', 'Hereditary_cancer-predisposing_syndrome', 'Neurofibromatosis,_type_1'] | GTTTAAACAGATATTCCTGTCCTTATAAGCTTATGTTCTGTGAAGTAGGGATATTAAGCAAATAATTACATAAATACATGTACAAACTGTGAAAAGTGCAATGAAAAAAGGCTTACTCGGTTTTCAAATACAAAGTAAATGTACCCTGTGAATATAAAGTTTCATTCGTGTTTCAAAAATCTAGTTGATAAAAGTAGAAGTTAGTAAAATCAAGTTTACTTATTATAGTTTTAGTCTTAATTCAAATTATACTTTTACTTGTAATTGGAAATATGAATTTTTAAAACTATTCATTGTGGAAAAATGGAAAAATACACATA... | GTTTAAACAGATATTCCTGTCCTTATAAGCTTATGTTCTGTGAAGTAGGGATATTAAGCAAATAATTACATAAATACATGTACAAACTGTGAAAAGTGCAATGAAAAAAGGCTTACTCGGTTTTCAAATACAAAGTAAATGTACCCTGTGAATATAAAGTTTCATTCGTGTTTCAAAAATCTAGTTGATAAAAGTAGAAGTTAGTAAAATCAAGTTTACTTATTATAGTTTTAGTCTTAATTCAAATTATACTTTTACTTGTAATTGGAAATATGAATTTTTAAAACTATTCATTGTGGAAAAATGGAAAAATACACATA... | pathogenic | 266,853 |
Variant chromosome 17, position 31169905, gene NF1 (neurofibromin 1): benign or pathogenic? Disease(s)? | pathogenic; ['Café-au-lait_macules_with_pulmonary_stenosis', 'Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome', 'Inborn_genetic_diseases', 'Neurofibromatosis,_type_1', 'Tibial_pseudarthrosis'] | GTTTAAACAGATATTCCTGTCCTTATAAGCTTATGTTCTGTGAAGTAGGGATATTAAGCAAATAATTACATAAATACATGTACAAACTGTGAAAAGTGCAATGAAAAAAGGCTTACTCGGTTTTCAAATACAAAGTAAATGTACCCTGTGAATATAAAGTTTCATTCGTGTTTCAAAAATCTAGTTGATAAAAGTAGAAGTTAGTAAAATCAAGTTTACTTATTATAGTTTTAGTCTTAATTCAAATTATACTTTTACTTGTAATTGGAAATATGAATTTTTAAAACTATTCATTGTGGAAAAATGGAAAAATACACATA... | GTTTAAACAGATATTCCTGTCCTTATAAGCTTATGTTCTGTGAAGTAGGGATATTAAGCAAATAATTACATAAATACATGTACAAACTGTGAAAAGTGCAATGAAAAAAGGCTTACTCGGTTTTCAAATACAAAGTAAATGTACCCTGTGAATATAAAGTTTCATTCGTGTTTCAAAAATCTAGTTGATAAAAGTAGAAGTTAGTAAAATCAAGTTTACTTATTATAGTTTTAGTCTTAATTCAAATTATACTTTTACTTGTAATTGGAAATATGAATTTTTAAAACTATTCATTGTGGAAAAATGGAAAAATACACATA... | pathogenic | 266,854 |
A genetic variant on chromosome 17, position 31169930, affects the gene NF1 (neurofibromin 1). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome', 'Neurofibromatosis,_type_1'] | TAAGCTTATGTTCTGTGAAGTAGGGATATTAAGCAAATAATTACATAAATACATGTACAAACTGTGAAAAGTGCAATGAAAAAAGGCTTACTCGGTTTTCAAATACAAAGTAAATGTACCCTGTGAATATAAAGTTTCATTCGTGTTTCAAAAATCTAGTTGATAAAAGTAGAAGTTAGTAAAATCAAGTTTACTTATTATAGTTTTAGTCTTAATTCAAATTATACTTTTACTTGTAATTGGAAATATGAATTTTTAAAACTATTCATTGTGGAAAAATGGAAAAATACACATAGAATAGTACTTCAAATCCCCATGCA... | TAAGCTTATGTTCTGTGAAGTAGGGATATTAAGCAAATAATTACATAAATACATGTACAAACTGTGAAAAGTGCAATGAAAAAAGGCTTACTCGGTTTTCAAATACAAAGTAAATGTACCCTGTGAATATAAAGTTTCATTCGTGTTTCAAAAATCTAGTTGATAAAAGTAGAAGTTAGTAAAATCAAGTTTACTTATTATAGTTTTAGTCTTAATTCAAATTATACTTTTACTTGTAATTGGAAATATGAATTTTTAAAACTATTCATTGTGGAAAAATGGAAAAATACACATAGAATAGTACTTCAAATCCCCATGCA... | pathogenic | 266,857 |
Is chromosome 17, position 31169948, gene NF1 (neurofibromin 1) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Neurofibromatosis,_type_1'] | AGTAGGGATATTAAGCAAATAATTACATAAATACATGTACAAACTGTGAAAAGTGCAATGAAAAAAGGCTTACTCGGTTTTCAAATACAAAGTAAATGTACCCTGTGAATATAAAGTTTCATTCGTGTTTCAAAAATCTAGTTGATAAAAGTAGAAGTTAGTAAAATCAAGTTTACTTATTATAGTTTTAGTCTTAATTCAAATTATACTTTTACTTGTAATTGGAAATATGAATTTTTAAAACTATTCATTGTGGAAAAATGGAAAAATACACATAGAATAGTACTTCAAATCCCCATGCATCTCTTACTCTGCTTTAA... | AGTAGGGATATTAAGCAAATAATTACATAAATACATGTACAAACTGTGAAAAGTGCAATGAAAAAAGGCTTACTCGGTTTTCAAATACAAAGTAAATGTACCCTGTGAATATAAAGTTTCATTCGTGTTTCAAAAATCTAGTTGATAAAAGTAGAAGTTAGTAAAATCAAGTTTACTTATTATAGTTTTAGTCTTAATTCAAATTATACTTTTACTTGTAATTGGAAATATGAATTTTTAAAACTATTCATTGTGGAAAAATGGAAAAATACACATAGAATAGTACTTCAAATCCCCATGCATCTCTTACTCTGCTTTAA... | pathogenic | 266,860 |
Clinical classification of chromosome 17, position 31169948, gene NF1 (neurofibromin 1): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome', 'Neurofibromatosis,_type_1'] | AGTAGGGATATTAAGCAAATAATTACATAAATACATGTACAAACTGTGAAAAGTGCAATGAAAAAAGGCTTACTCGGTTTTCAAATACAAAGTAAATGTACCCTGTGAATATAAAGTTTCATTCGTGTTTCAAAAATCTAGTTGATAAAAGTAGAAGTTAGTAAAATCAAGTTTACTTATTATAGTTTTAGTCTTAATTCAAATTATACTTTTACTTGTAATTGGAAATATGAATTTTTAAAACTATTCATTGTGGAAAAATGGAAAAATACACATAGAATAGTACTTCAAATCCCCATGCATCTCTTACTCTGCTTTAA... | AGTAGGGATATTAAGCAAATAATTACATAAATACATGTACAAACTGTGAAAAGTGCAATGAAAAAAGGCTTACTCGGTTTTCAAATACAAAGTAAATGTACCCTGTGAATATAAAGTTTCATTCGTGTTTCAAAAATCTAGTTGATAAAAGTAGAAGTTAGTAAAATCAAGTTTACTTATTATAGTTTTAGTCTTAATTCAAATTATACTTTTACTTGTAATTGGAAATATGAATTTTTAAAACTATTCATTGTGGAAAAATGGAAAAATACACATAGAATAGTACTTCAAATCCCCATGCATCTCTTACTCTGCTTTAA... | pathogenic | 266,861 |
Considering the variant on chromosome 17, location 31169950, involving gene NF1 (neurofibromin 1), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Neurofibromatosis,_type_1'] | TAGGGATATTAAGCAAATAATTACATAAATACATGTACAAACTGTGAAAAGTGCAATGAAAAAAGGCTTACTCGGTTTTCAAATACAAAGTAAATGTACCCTGTGAATATAAAGTTTCATTCGTGTTTCAAAAATCTAGTTGATAAAAGTAGAAGTTAGTAAAATCAAGTTTACTTATTATAGTTTTAGTCTTAATTCAAATTATACTTTTACTTGTAATTGGAAATATGAATTTTTAAAACTATTCATTGTGGAAAAATGGAAAAATACACATAGAATAGTACTTCAAATCCCCATGCATCTCTTACTCTGCTTTAACT... | TAGGGATATTAAGCAAATAATTACATAAATACATGTACAAACTGTGAAAAGTGCAATGAAAAAAGGCTTACTCGGTTTTCAAATACAAAGTAAATGTACCCTGTGAATATAAAGTTTCATTCGTGTTTCAAAAATCTAGTTGATAAAAGTAGAAGTTAGTAAAATCAAGTTTACTTATTATAGTTTTAGTCTTAATTCAAATTATACTTTTACTTGTAATTGGAAATATGAATTTTTAAAACTATTCATTGTGGAAAAATGGAAAAATACACATAGAATAGTACTTCAAATCCCCATGCATCTCTTACTCTGCTTTAACT... | pathogenic | 266,862 |
Chromosome 17, position 31169960, gene NF1 (neurofibromin 1): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Neurofibromatosis,_type_1', 'likely other unspecified diseases'] | AAGCAAATAATTACATAAATACATGTACAAACTGTGAAAAGTGCAATGAAAAAAGGCTTACTCGGTTTTCAAATACAAAGTAAATGTACCCTGTGAATATAAAGTTTCATTCGTGTTTCAAAAATCTAGTTGATAAAAGTAGAAGTTAGTAAAATCAAGTTTACTTATTATAGTTTTAGTCTTAATTCAAATTATACTTTTACTTGTAATTGGAAATATGAATTTTTAAAACTATTCATTGTGGAAAAATGGAAAAATACACATAGAATAGTACTTCAAATCCCCATGCATCTCTTACTCTGCTTTAACTGTTTCTGGCA... | AAGCAAATAATTACATAAATACATGTACAAACTGTGAAAAGTGCAATGAAAAAAGGCTTACTCGGTTTTCAAATACAAAGTAAATGTACCCTGTGAATATAAAGTTTCATTCGTGTTTCAAAAATCTAGTTGATAAAAGTAGAAGTTAGTAAAATCAAGTTTACTTATTATAGTTTTAGTCTTAATTCAAATTATACTTTTACTTGTAATTGGAAATATGAATTTTTAAAACTATTCATTGTGGAAAAATGGAAAAATACACATAGAATAGTACTTCAAATCCCCATGCATCTCTTACTCTGCTTTAACTGTTTCTGGCA... | pathogenic | 266,866 |
Does the genetic variant at chromosome 17, position 31181411, impacting gene NF1 (neurofibromin 1), appear benign or pathogenic? If pathogenic, name the associated disease(s). | benign | TGTGTAGAGGGAAATTTATAGCACTAAATGCCCACAAGATAAAGCAGGAAAGATCTAAAATTGACACCCTAACATCACAATTAAAAGAACTAGAGAAGCAAGAGCAAACAAATTCAAAAGCTAGCAGAGGACAAGAAATAACTAAGATCAGAGCAGAACTGAAGGAGATAGAGACACGAAAAACCTTTCAAAAAATCAATGAGTCTCCTGACCTCGTGATCCGCCGCCTTGGCCTCAGTGAAACCCCATCTCTACTAAAAATACAAAAAAATTAGCCGGGCATGGTGGCAGGCACCTGTAGTCCCAGCTACTCGGGAGCC... | TGTGTAGAGGGAAATTTATAGCACTAAATGCCCACAAGATAAAGCAGGAAAGATCTAAAATTGACACCCTAACATCACAATTAAAAGAACTAGAGAAGCAAGAGCAAACAAATTCAAAAGCTAGCAGAGGACAAGAAATAACTAAGATCAGAGCAGAACTGAAGGAGATAGAGACACGAAAAACCTTTCAAAAAATCAATGAGTCTCCTGACCTCGTGATCCGCCGCCTTGGCCTCAGTGAAACCCCATCTCTACTAAAAATACAAAAAAATTAGCCGGGCATGGTGGCAGGCACCTGTAGTCCCAGCTACTCGGGAGCC... | benign | 266,879 |
Variant chromosome 17, position 31181442, gene NF1 (neurofibromin 1): benign or pathogenic? Disease(s)? | pathogenic; ['Neurofibromatosis,_type_1'] | CCACAAGATAAAGCAGGAAAGATCTAAAATTGACACCCTAACATCACAATTAAAAGAACTAGAGAAGCAAGAGCAAACAAATTCAAAAGCTAGCAGAGGACAAGAAATAACTAAGATCAGAGCAGAACTGAAGGAGATAGAGACACGAAAAACCTTTCAAAAAATCAATGAGTCTCCTGACCTCGTGATCCGCCGCCTTGGCCTCAGTGAAACCCCATCTCTACTAAAAATACAAAAAAATTAGCCGGGCATGGTGGCAGGCACCTGTAGTCCCAGCTACTCGGGAGCCTGAGGCAGGAGAATGGCGTGCACCCGGGAGG... | CCACAAGATAAAGCAGGAAAGATCTAAAATTGACACCCTAACATCACAATTAAAAGAACTAGAGAAGCAAGAGCAAACAAATTCAAAAGCTAGCAGAGGACAAGAAATAACTAAGATCAGAGCAGAACTGAAGGAGATAGAGACACGAAAAACCTTTCAAAAAATCAATGAGTCTCCTGACCTCGTGATCCGCCGCCTTGGCCTCAGTGAAACCCCATCTCTACTAAAAATACAAAAAAATTAGCCGGGCATGGTGGCAGGCACCTGTAGTCCCAGCTACTCGGGAGCCTGAGGCAGGAGAATGGCGTGCACCCGGGAGG... | pathogenic | 266,888 |
Variant at chromosome 17, position 31181473, gene NF1 (neurofibromin 1): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome', 'Neurofibromatosis,_type_1'] | GACACCCTAACATCACAATTAAAAGAACTAGAGAAGCAAGAGCAAACAAATTCAAAAGCTAGCAGAGGACAAGAAATAACTAAGATCAGAGCAGAACTGAAGGAGATAGAGACACGAAAAACCTTTCAAAAAATCAATGAGTCTCCTGACCTCGTGATCCGCCGCCTTGGCCTCAGTGAAACCCCATCTCTACTAAAAATACAAAAAAATTAGCCGGGCATGGTGGCAGGCACCTGTAGTCCCAGCTACTCGGGAGCCTGAGGCAGGAGAATGGCGTGCACCCGGGAGGCAGAGCTTGCAGTGAGCCAGGATCGTGCAAC... | GACACCCTAACATCACAATTAAAAGAACTAGAGAAGCAAGAGCAAACAAATTCAAAAGCTAGCAGAGGACAAGAAATAACTAAGATCAGAGCAGAACTGAAGGAGATAGAGACACGAAAAACCTTTCAAAAAATCAATGAGTCTCCTGACCTCGTGATCCGCCGCCTTGGCCTCAGTGAAACCCCATCTCTACTAAAAATACAAAAAAATTAGCCGGGCATGGTGGCAGGCACCTGTAGTCCCAGCTACTCGGGAGCCTGAGGCAGGAGAATGGCGTGCACCCGGGAGGCAGAGCTTGCAGTGAGCCAGGATCGTGCAAC... | pathogenic | 266,899 |
Considering the genetic mutation at chromosome 17, position 31181473, impacting NF1 (neurofibromin 1): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Neurofibromatosis,_type_1'] | GACACCCTAACATCACAATTAAAAGAACTAGAGAAGCAAGAGCAAACAAATTCAAAAGCTAGCAGAGGACAAGAAATAACTAAGATCAGAGCAGAACTGAAGGAGATAGAGACACGAAAAACCTTTCAAAAAATCAATGAGTCTCCTGACCTCGTGATCCGCCGCCTTGGCCTCAGTGAAACCCCATCTCTACTAAAAATACAAAAAAATTAGCCGGGCATGGTGGCAGGCACCTGTAGTCCCAGCTACTCGGGAGCCTGAGGCAGGAGAATGGCGTGCACCCGGGAGGCAGAGCTTGCAGTGAGCCAGGATCGTGCAAC... | GACACCCTAACATCACAATTAAAAGAACTAGAGAAGCAAGAGCAAACAAATTCAAAAGCTAGCAGAGGACAAGAAATAACTAAGATCAGAGCAGAACTGAAGGAGATAGAGACACGAAAAACCTTTCAAAAAATCAATGAGTCTCCTGACCTCGTGATCCGCCGCCTTGGCCTCAGTGAAACCCCATCTCTACTAAAAATACAAAAAAATTAGCCGGGCATGGTGGCAGGCACCTGTAGTCCCAGCTACTCGGGAGCCTGAGGCAGGAGAATGGCGTGCACCCGGGAGGCAGAGCTTGCAGTGAGCCAGGATCGTGCAAC... | pathogenic | 266,900 |
Is the variant located on chromosome 17 at position 31181477, gene NF1 (neurofibromin 1), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome', 'Neurofibromatosis,_type_1', 'Tibial_pseudarthrosis'] | CCCTAACATCACAATTAAAAGAACTAGAGAAGCAAGAGCAAACAAATTCAAAAGCTAGCAGAGGACAAGAAATAACTAAGATCAGAGCAGAACTGAAGGAGATAGAGACACGAAAAACCTTTCAAAAAATCAATGAGTCTCCTGACCTCGTGATCCGCCGCCTTGGCCTCAGTGAAACCCCATCTCTACTAAAAATACAAAAAAATTAGCCGGGCATGGTGGCAGGCACCTGTAGTCCCAGCTACTCGGGAGCCTGAGGCAGGAGAATGGCGTGCACCCGGGAGGCAGAGCTTGCAGTGAGCCAGGATCGTGCAACTGCA... | CCCTAACATCACAATTAAAAGAACTAGAGAAGCAAGAGCAAACAAATTCAAAAGCTAGCAGAGGACAAGAAATAACTAAGATCAGAGCAGAACTGAAGGAGATAGAGACACGAAAAACCTTTCAAAAAATCAATGAGTCTCCTGACCTCGTGATCCGCCGCCTTGGCCTCAGTGAAACCCCATCTCTACTAAAAATACAAAAAAATTAGCCGGGCATGGTGGCAGGCACCTGTAGTCCCAGCTACTCGGGAGCCTGAGGCAGGAGAATGGCGTGCACCCGGGAGGCAGAGCTTGCAGTGAGCCAGGATCGTGCAACTGCA... | pathogenic | 266,901 |
Is the variant located on chromosome 17 at position 31181484, gene NF1 (neurofibromin 1), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Neurofibromatosis,_type_1'] | ATCACAATTAAAAGAACTAGAGAAGCAAGAGCAAACAAATTCAAAAGCTAGCAGAGGACAAGAAATAACTAAGATCAGAGCAGAACTGAAGGAGATAGAGACACGAAAAACCTTTCAAAAAATCAATGAGTCTCCTGACCTCGTGATCCGCCGCCTTGGCCTCAGTGAAACCCCATCTCTACTAAAAATACAAAAAAATTAGCCGGGCATGGTGGCAGGCACCTGTAGTCCCAGCTACTCGGGAGCCTGAGGCAGGAGAATGGCGTGCACCCGGGAGGCAGAGCTTGCAGTGAGCCAGGATCGTGCAACTGCACTCCAAC... | ATCACAATTAAAAGAACTAGAGAAGCAAGAGCAAACAAATTCAAAAGCTAGCAGAGGACAAGAAATAACTAAGATCAGAGCAGAACTGAAGGAGATAGAGACACGAAAAACCTTTCAAAAAATCAATGAGTCTCCTGACCTCGTGATCCGCCGCCTTGGCCTCAGTGAAACCCCATCTCTACTAAAAATACAAAAAAATTAGCCGGGCATGGTGGCAGGCACCTGTAGTCCCAGCTACTCGGGAGCCTGAGGCAGGAGAATGGCGTGCACCCGGGAGGCAGAGCTTGCAGTGAGCCAGGATCGTGCAACTGCACTCCAAC... | pathogenic | 266,903 |
Does the chromosome 17 mutation at position 31181750 within gene NF1 (neurofibromin 1) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome', 'Neurofibromatosis,_type_1'] | GCACCCGGGAGGCAGAGCTTGCAGTGAGCCAGGATCGTGCAACTGCACTCCAACCTGGGCGACAGAGCAAGACTCTGTTTAAAAAAAAAAAAAAATCAATGAATCCAGGAGCTGGTTTTTTGAAAAGATCAACAAAATAAATAGACCACTAGCCAGACTCATAAAGAAGAAAGAGAGGAGAATCAAATAGACGCAATAAAAAATGATAAAAGGGATATCACCACCGATCCCACAGAAATACAAACTACCATCAGAGAATACTATAAACACCTCTGTGCAAATAAACTAGAAAATCTAGCAGTAATGGATAAATTCCTGGA... | GCACCCGGGAGGCAGAGCTTGCAGTGAGCCAGGATCGTGCAACTGCACTCCAACCTGGGCGACAGAGCAAGACTCTGTTTAAAAAAAAAAAAAAATCAATGAATCCAGGAGCTGGTTTTTTGAAAAGATCAACAAAATAAATAGACCACTAGCCAGACTCATAAAGAAGAAAGAGAGGAGAATCAAATAGACGCAATAAAAAATGATAAAAGGGATATCACCACCGATCCCACAGAAATACAAACTACCATCAGAGAATACTATAAACACCTCTGTGCAAATAAACTAGAAAATCTAGCAGTAATGGATAAATTCCTGGA... | pathogenic | 266,926 |
Evaluate if the mutation on chromosome 17 at position 31181756 in NF1 (neurofibromin 1) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Juvenile_myelomonocytic_leukemia', 'Neurofibromatosis,_type_1'] | GGGAGGCAGAGCTTGCAGTGAGCCAGGATCGTGCAACTGCACTCCAACCTGGGCGACAGAGCAAGACTCTGTTTAAAAAAAAAAAAAAATCAATGAATCCAGGAGCTGGTTTTTTGAAAAGATCAACAAAATAAATAGACCACTAGCCAGACTCATAAAGAAGAAAGAGAGGAGAATCAAATAGACGCAATAAAAAATGATAAAAGGGATATCACCACCGATCCCACAGAAATACAAACTACCATCAGAGAATACTATAAACACCTCTGTGCAAATAAACTAGAAAATCTAGCAGTAATGGATAAATTCCTGGACACATA... | GGGAGGCAGAGCTTGCAGTGAGCCAGGATCGTGCAACTGCACTCCAACCTGGGCGACAGAGCAAGACTCTGTTTAAAAAAAAAAAAAAATCAATGAATCCAGGAGCTGGTTTTTTGAAAAGATCAACAAAATAAATAGACCACTAGCCAGACTCATAAAGAAGAAAGAGAGGAGAATCAAATAGACGCAATAAAAAATGATAAAAGGGATATCACCACCGATCCCACAGAAATACAAACTACCATCAGAGAATACTATAAACACCTCTGTGCAAATAAACTAGAAAATCTAGCAGTAATGGATAAATTCCTGGACACATA... | pathogenic | 266,929 |
A genetic variant on chromosome 17, position 31181778, affects the gene NF1 (neurofibromin 1). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Neurofibromatosis,_type_1'] | CCAGGATCGTGCAACTGCACTCCAACCTGGGCGACAGAGCAAGACTCTGTTTAAAAAAAAAAAAAAATCAATGAATCCAGGAGCTGGTTTTTTGAAAAGATCAACAAAATAAATAGACCACTAGCCAGACTCATAAAGAAGAAAGAGAGGAGAATCAAATAGACGCAATAAAAAATGATAAAAGGGATATCACCACCGATCCCACAGAAATACAAACTACCATCAGAGAATACTATAAACACCTCTGTGCAAATAAACTAGAAAATCTAGCAGTAATGGATAAATTCCTGGACACATACACCCTCCCAAGACTAAACCAG... | CCAGGATCGTGCAACTGCACTCCAACCTGGGCGACAGAGCAAGACTCTGTTTAAAAAAAAAAAAAAATCAATGAATCCAGGAGCTGGTTTTTTGAAAAGATCAACAAAATAAATAGACCACTAGCCAGACTCATAAAGAAGAAAGAGAGGAGAATCAAATAGACGCAATAAAAAATGATAAAAGGGATATCACCACCGATCCCACAGAAATACAAACTACCATCAGAGAATACTATAAACACCTCTGTGCAAATAAACTAGAAAATCTAGCAGTAATGGATAAATTCCTGGACACATACACCCTCCCAAGACTAAACCAG... | pathogenic | 266,938 |
Clinical classification of chromosome 17, position 31181801, gene NF1 (neurofibromin 1): benign or pathogenic? Disease(s) if pathogenic? | benign | AACCTGGGCGACAGAGCAAGACTCTGTTTAAAAAAAAAAAAAAATCAATGAATCCAGGAGCTGGTTTTTTGAAAAGATCAACAAAATAAATAGACCACTAGCCAGACTCATAAAGAAGAAAGAGAGGAGAATCAAATAGACGCAATAAAAAATGATAAAAGGGATATCACCACCGATCCCACAGAAATACAAACTACCATCAGAGAATACTATAAACACCTCTGTGCAAATAAACTAGAAAATCTAGCAGTAATGGATAAATTCCTGGACACATACACCCTCCCAAGACTAAACCAGGAAGAAGTCGAATCCCTGAATAG... | AACCTGGGCGACAGAGCAAGACTCTGTTTAAAAAAAAAAAAAAATCAATGAATCCAGGAGCTGGTTTTTTGAAAAGATCAACAAAATAAATAGACCACTAGCCAGACTCATAAAGAAGAAAGAGAGGAGAATCAAATAGACGCAATAAAAAATGATAAAAGGGATATCACCACCGATCCCACAGAAATACAAACTACCATCAGAGAATACTATAAACACCTCTGTGCAAATAAACTAGAAAATCTAGCAGTAATGGATAAATTCCTGGACACATACACCCTCCCAAGACTAAACCAGGAAGAAGTCGAATCCCTGAATAG... | benign | 266,944 |
Gene NF1 (neurofibromin 1) variant at chromosome position 31181801 on chromosome 17: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | benign | AACCTGGGCGACAGAGCAAGACTCTGTTTAAAAAAAAAAAAAAATCAATGAATCCAGGAGCTGGTTTTTTGAAAAGATCAACAAAATAAATAGACCACTAGCCAGACTCATAAAGAAGAAAGAGAGGAGAATCAAATAGACGCAATAAAAAATGATAAAAGGGATATCACCACCGATCCCACAGAAATACAAACTACCATCAGAGAATACTATAAACACCTCTGTGCAAATAAACTAGAAAATCTAGCAGTAATGGATAAATTCCTGGACACATACACCCTCCCAAGACTAAACCAGGAAGAAGTCGAATCCCTGAATAG... | AACCTGGGCGACAGAGCAAGACTCTGTTTAAAAAAAAAAAAAAATCAATGAATCCAGGAGCTGGTTTTTTGAAAAGATCAACAAAATAAATAGACCACTAGCCAGACTCATAAAGAAGAAAGAGAGGAGAATCAAATAGACGCAATAAAAAATGATAAAAGGGATATCACCACCGATCCCACAGAAATACAAACTACCATCAGAGAATACTATAAACACCTCTGTGCAAATAAACTAGAAAATCTAGCAGTAATGGATAAATTCCTGGACACATACACCCTCCCAAGACTAAACCAGGAAGAAGTCGAATCCCTGAATAG... | benign | 266,945 |
Does the chromosome 17 mutation at position 31182507 within gene NF1 (neurofibromin 1) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome', 'Neurofibromatosis,_type_1'] | GTAATCCATCACGTAAACAGAACCAATGACAAAAACCACATGATTATCTCAATAGATACAGAAAAGGCCTTTGATGAAATTCAACAGCCCTTCATGCCAAAGACTCTGAATAAACTAGGGATTGATCAAACATATCTCAAAATAATAAGAGCTATTTATGACAAACCCACAGCCAATATCATACTGAATGGGCAAAAACTGGAAGGATTCCCTTTGAAAACTGGCACAAGACAAGGATGCCCTCTCTCACCACTCCTATTCAAACTAATATTGGAAGTTCTGGCCAGGGCAATCAGGCAAGAGAAAGAAATAAAGGGTAT... | GTAATCCATCACGTAAACAGAACCAATGACAAAAACCACATGATTATCTCAATAGATACAGAAAAGGCCTTTGATGAAATTCAACAGCCCTTCATGCCAAAGACTCTGAATAAACTAGGGATTGATCAAACATATCTCAAAATAATAAGAGCTATTTATGACAAACCCACAGCCAATATCATACTGAATGGGCAAAAACTGGAAGGATTCCCTTTGAAAACTGGCACAAGACAAGGATGCCCTCTCTCACCACTCCTATTCAAACTAATATTGGAAGTTCTGGCCAGGGCAATCAGGCAAGAGAAAGAAATAAAGGGTAT... | pathogenic | 266,952 |
Mutation at chromosome 17, position 31182541, within NF1 (neurofibromin 1): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | ACCACATGATTATCTCAATAGATACAGAAAAGGCCTTTGATGAAATTCAACAGCCCTTCATGCCAAAGACTCTGAATAAACTAGGGATTGATCAAACATATCTCAAAATAATAAGAGCTATTTATGACAAACCCACAGCCAATATCATACTGAATGGGCAAAAACTGGAAGGATTCCCTTTGAAAACTGGCACAAGACAAGGATGCCCTCTCTCACCACTCCTATTCAAACTAATATTGGAAGTTCTGGCCAGGGCAATCAGGCAAGAGAAAGAAATAAAGGGTATTCGGTTAGGAAAAGAGAAAGTCAAATTGCCTCTG... | ACCACATGATTATCTCAATAGATACAGAAAAGGCCTTTGATGAAATTCAACAGCCCTTCATGCCAAAGACTCTGAATAAACTAGGGATTGATCAAACATATCTCAAAATAATAAGAGCTATTTATGACAAACCCACAGCCAATATCATACTGAATGGGCAAAAACTGGAAGGATTCCCTTTGAAAACTGGCACAAGACAAGGATGCCCTCTCTCACCACTCCTATTCAAACTAATATTGGAAGTTCTGGCCAGGGCAATCAGGCAAGAGAAAGAAATAAAGGGTATTCGGTTAGGAAAAGAGAAAGTCAAATTGCCTCTG... | pathogenic | 266,958 |
Located at chromosome 17 position 31182563, the variant affecting gene NF1 (neurofibromin 1)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome', 'Neurofibromatosis,_type_1'] | TACAGAAAAGGCCTTTGATGAAATTCAACAGCCCTTCATGCCAAAGACTCTGAATAAACTAGGGATTGATCAAACATATCTCAAAATAATAAGAGCTATTTATGACAAACCCACAGCCAATATCATACTGAATGGGCAAAAACTGGAAGGATTCCCTTTGAAAACTGGCACAAGACAAGGATGCCCTCTCTCACCACTCCTATTCAAACTAATATTGGAAGTTCTGGCCAGGGCAATCAGGCAAGAGAAAGAAATAAAGGGTATTCGGTTAGGAAAAGAGAAAGTCAAATTGCCTCTGTTTGCAGATGACATGGTTGTAT... | TACAGAAAAGGCCTTTGATGAAATTCAACAGCCCTTCATGCCAAAGACTCTGAATAAACTAGGGATTGATCAAACATATCTCAAAATAATAAGAGCTATTTATGACAAACCCACAGCCAATATCATACTGAATGGGCAAAAACTGGAAGGATTCCCTTTGAAAACTGGCACAAGACAAGGATGCCCTCTCTCACCACTCCTATTCAAACTAATATTGGAAGTTCTGGCCAGGGCAATCAGGCAAGAGAAAGAAATAAAGGGTATTCGGTTAGGAAAAGAGAAAGTCAAATTGCCTCTGTTTGCAGATGACATGGTTGTAT... | pathogenic | 266,962 |
Clinical classification of chromosome 17, position 31182593, gene NF1 (neurofibromin 1): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome', 'Neurofibromatosis,_type_1'] | GCCCTTCATGCCAAAGACTCTGAATAAACTAGGGATTGATCAAACATATCTCAAAATAATAAGAGCTATTTATGACAAACCCACAGCCAATATCATACTGAATGGGCAAAAACTGGAAGGATTCCCTTTGAAAACTGGCACAAGACAAGGATGCCCTCTCTCACCACTCCTATTCAAACTAATATTGGAAGTTCTGGCCAGGGCAATCAGGCAAGAGAAAGAAATAAAGGGTATTCGGTTAGGAAAAGAGAAAGTCAAATTGCCTCTGTTTGCAGATGACATGGTTGTATGTTTAGAAAACCCCATCGTCTCAGCCCAAA... | GCCCTTCATGCCAAAGACTCTGAATAAACTAGGGATTGATCAAACATATCTCAAAATAATAAGAGCTATTTATGACAAACCCACAGCCAATATCATACTGAATGGGCAAAAACTGGAAGGATTCCCTTTGAAAACTGGCACAAGACAAGGATGCCCTCTCTCACCACTCCTATTCAAACTAATATTGGAAGTTCTGGCCAGGGCAATCAGGCAAGAGAAAGAAATAAAGGGTATTCGGTTAGGAAAAGAGAAAGTCAAATTGCCTCTGTTTGCAGATGACATGGTTGTATGTTTAGAAAACCCCATCGTCTCAGCCCAAA... | pathogenic | 266,970 |
Variant at chromosome position 31182594, chromosome 17, gene NF1 (neurofibromin 1): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome', 'Neurofibromatosis,_type_1'] | CCCTTCATGCCAAAGACTCTGAATAAACTAGGGATTGATCAAACATATCTCAAAATAATAAGAGCTATTTATGACAAACCCACAGCCAATATCATACTGAATGGGCAAAAACTGGAAGGATTCCCTTTGAAAACTGGCACAAGACAAGGATGCCCTCTCTCACCACTCCTATTCAAACTAATATTGGAAGTTCTGGCCAGGGCAATCAGGCAAGAGAAAGAAATAAAGGGTATTCGGTTAGGAAAAGAGAAAGTCAAATTGCCTCTGTTTGCAGATGACATGGTTGTATGTTTAGAAAACCCCATCGTCTCAGCCCAAAA... | CCCTTCATGCCAAAGACTCTGAATAAACTAGGGATTGATCAAACATATCTCAAAATAATAAGAGCTATTTATGACAAACCCACAGCCAATATCATACTGAATGGGCAAAAACTGGAAGGATTCCCTTTGAAAACTGGCACAAGACAAGGATGCCCTCTCTCACCACTCCTATTCAAACTAATATTGGAAGTTCTGGCCAGGGCAATCAGGCAAGAGAAAGAAATAAAGGGTATTCGGTTAGGAAAAGAGAAAGTCAAATTGCCTCTGTTTGCAGATGACATGGTTGTATGTTTAGAAAACCCCATCGTCTCAGCCCAAAA... | pathogenic | 266,971 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 17, position 31182596, gene NF1 (neurofibromin 1). What disease(s) is it linked to if pathogenic? | pathogenic; ['Neurofibromatosis,_type_1'] | CTTCATGCCAAAGACTCTGAATAAACTAGGGATTGATCAAACATATCTCAAAATAATAAGAGCTATTTATGACAAACCCACAGCCAATATCATACTGAATGGGCAAAAACTGGAAGGATTCCCTTTGAAAACTGGCACAAGACAAGGATGCCCTCTCTCACCACTCCTATTCAAACTAATATTGGAAGTTCTGGCCAGGGCAATCAGGCAAGAGAAAGAAATAAAGGGTATTCGGTTAGGAAAAGAGAAAGTCAAATTGCCTCTGTTTGCAGATGACATGGTTGTATGTTTAGAAAACCCCATCGTCTCAGCCCAAAATC... | CTTCATGCCAAAGACTCTGAATAAACTAGGGATTGATCAAACATATCTCAAAATAATAAGAGCTATTTATGACAAACCCACAGCCAATATCATACTGAATGGGCAAAAACTGGAAGGATTCCCTTTGAAAACTGGCACAAGACAAGGATGCCCTCTCTCACCACTCCTATTCAAACTAATATTGGAAGTTCTGGCCAGGGCAATCAGGCAAGAGAAAGAAATAAAGGGTATTCGGTTAGGAAAAGAGAAAGTCAAATTGCCTCTGTTTGCAGATGACATGGTTGTATGTTTAGAAAACCCCATCGTCTCAGCCCAAAATC... | pathogenic | 266,972 |
Variant at chromosome position 31182596, chromosome 17, gene NF1 (neurofibromin 1): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome', 'Neurofibromatosis,_type_1'] | CTTCATGCCAAAGACTCTGAATAAACTAGGGATTGATCAAACATATCTCAAAATAATAAGAGCTATTTATGACAAACCCACAGCCAATATCATACTGAATGGGCAAAAACTGGAAGGATTCCCTTTGAAAACTGGCACAAGACAAGGATGCCCTCTCTCACCACTCCTATTCAAACTAATATTGGAAGTTCTGGCCAGGGCAATCAGGCAAGAGAAAGAAATAAAGGGTATTCGGTTAGGAAAAGAGAAAGTCAAATTGCCTCTGTTTGCAGATGACATGGTTGTATGTTTAGAAAACCCCATCGTCTCAGCCCAAAATC... | CTTCATGCCAAAGACTCTGAATAAACTAGGGATTGATCAAACATATCTCAAAATAATAAGAGCTATTTATGACAAACCCACAGCCAATATCATACTGAATGGGCAAAAACTGGAAGGATTCCCTTTGAAAACTGGCACAAGACAAGGATGCCCTCTCTCACCACTCCTATTCAAACTAATATTGGAAGTTCTGGCCAGGGCAATCAGGCAAGAGAAAGAAATAAAGGGTATTCGGTTAGGAAAAGAGAAAGTCAAATTGCCTCTGTTTGCAGATGACATGGTTGTATGTTTAGAAAACCCCATCGTCTCAGCCCAAAATC... | pathogenic | 266,974 |
Evaluate if the mutation on chromosome 17 at position 31182624 in NF1 (neurofibromin 1) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Neurofibromatosis,_type_1'] | GGGATTGATCAAACATATCTCAAAATAATAAGAGCTATTTATGACAAACCCACAGCCAATATCATACTGAATGGGCAAAAACTGGAAGGATTCCCTTTGAAAACTGGCACAAGACAAGGATGCCCTCTCTCACCACTCCTATTCAAACTAATATTGGAAGTTCTGGCCAGGGCAATCAGGCAAGAGAAAGAAATAAAGGGTATTCGGTTAGGAAAAGAGAAAGTCAAATTGCCTCTGTTTGCAGATGACATGGTTGTATGTTTAGAAAACCCCATCGTCTCAGCCCAAAATCTCCTTAAGCTGATAAGCAACTTCAGCAA... | GGGATTGATCAAACATATCTCAAAATAATAAGAGCTATTTATGACAAACCCACAGCCAATATCATACTGAATGGGCAAAAACTGGAAGGATTCCCTTTGAAAACTGGCACAAGACAAGGATGCCCTCTCTCACCACTCCTATTCAAACTAATATTGGAAGTTCTGGCCAGGGCAATCAGGCAAGAGAAAGAAATAAAGGGTATTCGGTTAGGAAAAGAGAAAGTCAAATTGCCTCTGTTTGCAGATGACATGGTTGTATGTTTAGAAAACCCCATCGTCTCAGCCCAAAATCTCCTTAAGCTGATAAGCAACTTCAGCAA... | pathogenic | 266,982 |
Is the variant located on chromosome 17 at position 31182648, gene NF1 (neurofibromin 1), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome', 'Neurofibromatosis,_type_1'] | ATAATAAGAGCTATTTATGACAAACCCACAGCCAATATCATACTGAATGGGCAAAAACTGGAAGGATTCCCTTTGAAAACTGGCACAAGACAAGGATGCCCTCTCTCACCACTCCTATTCAAACTAATATTGGAAGTTCTGGCCAGGGCAATCAGGCAAGAGAAAGAAATAAAGGGTATTCGGTTAGGAAAAGAGAAAGTCAAATTGCCTCTGTTTGCAGATGACATGGTTGTATGTTTAGAAAACCCCATCGTCTCAGCCCAAAATCTCCTTAAGCTGATAAGCAACTTCAGCAAAGTCTCAGGATACAAAATCAATGT... | ATAATAAGAGCTATTTATGACAAACCCACAGCCAATATCATACTGAATGGGCAAAAACTGGAAGGATTCCCTTTGAAAACTGGCACAAGACAAGGATGCCCTCTCTCACCACTCCTATTCAAACTAATATTGGAAGTTCTGGCCAGGGCAATCAGGCAAGAGAAAGAAATAAAGGGTATTCGGTTAGGAAAAGAGAAAGTCAAATTGCCTCTGTTTGCAGATGACATGGTTGTATGTTTAGAAAACCCCATCGTCTCAGCCCAAAATCTCCTTAAGCTGATAAGCAACTTCAGCAAAGTCTCAGGATACAAAATCAATGT... | pathogenic | 266,985 |
Variant at chromosome 17, position 31200391, gene NF1 (neurofibromin 1): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | benign | TCTTTAAATGTTGGGTGGAATCAACCAGTGAAAGCTATCTGGTCCTAGCCTTTTCTTTGGGAGCTTTGTGATTACTGATTAATCCCTTTACTAGTTATAGTTCTATTTAGATTTTCTATTTCCTCATGAGTTAGTTTCGGTAGACTGTGTGTTTGTAGAAATTTGTCCATTTTGTCCAGGTTATCCAAATTGTTGGCATACAGTTTTACATAGTATCGTCTCATAATTCTTTTTATTTTTGCAAAATCAGTAGTGTCACCACTTTTTTTGTTGTTGTTGAGGGGGTGGGGGGGATAGAGTCTTGCTCTTTCGCACAGGCT... | TCTTTAAATGTTGGGTGGAATCAACCAGTGAAAGCTATCTGGTCCTAGCCTTTTCTTTGGGAGCTTTGTGATTACTGATTAATCCCTTTACTAGTTATAGTTCTATTTAGATTTTCTATTTCCTCATGAGTTAGTTTCGGTAGACTGTGTGTTTGTAGAAATTTGTCCATTTTGTCCAGGTTATCCAAATTGTTGGCATACAGTTTTACATAGTATCGTCTCATAATTCTTTTTATTTTTGCAAAATCAGTAGTGTCACCACTTTTTTTGTTGTTGTTGAGGGGGTGGGGGGGATAGAGTCTTGCTCTTTCGCACAGGCT... | benign | 266,998 |
Clinical classification of chromosome 17, position 31200415, gene NF1 (neurofibromin 1): benign or pathogenic? Disease(s) if pathogenic? | benign | CCAGTGAAAGCTATCTGGTCCTAGCCTTTTCTTTGGGAGCTTTGTGATTACTGATTAATCCCTTTACTAGTTATAGTTCTATTTAGATTTTCTATTTCCTCATGAGTTAGTTTCGGTAGACTGTGTGTTTGTAGAAATTTGTCCATTTTGTCCAGGTTATCCAAATTGTTGGCATACAGTTTTACATAGTATCGTCTCATAATTCTTTTTATTTTTGCAAAATCAGTAGTGTCACCACTTTTTTTGTTGTTGTTGAGGGGGTGGGGGGGATAGAGTCTTGCTCTTTCGCACAGGCTGGAGTGCAGTGACAAGATCTTGGC... | CCAGTGAAAGCTATCTGGTCCTAGCCTTTTCTTTGGGAGCTTTGTGATTACTGATTAATCCCTTTACTAGTTATAGTTCTATTTAGATTTTCTATTTCCTCATGAGTTAGTTTCGGTAGACTGTGTGTTTGTAGAAATTTGTCCATTTTGTCCAGGTTATCCAAATTGTTGGCATACAGTTTTACATAGTATCGTCTCATAATTCTTTTTATTTTTGCAAAATCAGTAGTGTCACCACTTTTTTTGTTGTTGTTGAGGGGGTGGGGGGGATAGAGTCTTGCTCTTTCGCACAGGCTGGAGTGCAGTGACAAGATCTTGGC... | benign | 266,999 |
Clinically, how would you classify the variant at chromosome 17, position 31200420, gene NF1 (neurofibromin 1): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome', 'Neurofibromatosis-Noonan_syndrome'] | GAAAGCTATCTGGTCCTAGCCTTTTCTTTGGGAGCTTTGTGATTACTGATTAATCCCTTTACTAGTTATAGTTCTATTTAGATTTTCTATTTCCTCATGAGTTAGTTTCGGTAGACTGTGTGTTTGTAGAAATTTGTCCATTTTGTCCAGGTTATCCAAATTGTTGGCATACAGTTTTACATAGTATCGTCTCATAATTCTTTTTATTTTTGCAAAATCAGTAGTGTCACCACTTTTTTTGTTGTTGTTGAGGGGGTGGGGGGGATAGAGTCTTGCTCTTTCGCACAGGCTGGAGTGCAGTGACAAGATCTTGGCTCACT... | GAAAGCTATCTGGTCCTAGCCTTTTCTTTGGGAGCTTTGTGATTACTGATTAATCCCTTTACTAGTTATAGTTCTATTTAGATTTTCTATTTCCTCATGAGTTAGTTTCGGTAGACTGTGTGTTTGTAGAAATTTGTCCATTTTGTCCAGGTTATCCAAATTGTTGGCATACAGTTTTACATAGTATCGTCTCATAATTCTTTTTATTTTTGCAAAATCAGTAGTGTCACCACTTTTTTTGTTGTTGTTGAGGGGGTGGGGGGGATAGAGTCTTGCTCTTTCGCACAGGCTGGAGTGCAGTGACAAGATCTTGGCTCACT... | pathogenic | 267,002 |
The genetic variant at chromosome 17, position 31200438, affecting gene NF1 (neurofibromin 1): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome', 'Neurofibromatosis,_type_1'] | GCCTTTTCTTTGGGAGCTTTGTGATTACTGATTAATCCCTTTACTAGTTATAGTTCTATTTAGATTTTCTATTTCCTCATGAGTTAGTTTCGGTAGACTGTGTGTTTGTAGAAATTTGTCCATTTTGTCCAGGTTATCCAAATTGTTGGCATACAGTTTTACATAGTATCGTCTCATAATTCTTTTTATTTTTGCAAAATCAGTAGTGTCACCACTTTTTTTGTTGTTGTTGAGGGGGTGGGGGGGATAGAGTCTTGCTCTTTCGCACAGGCTGGAGTGCAGTGACAAGATCTTGGCTCACTGCAACCTCTGCCTCCTGG... | GCCTTTTCTTTGGGAGCTTTGTGATTACTGATTAATCCCTTTACTAGTTATAGTTCTATTTAGATTTTCTATTTCCTCATGAGTTAGTTTCGGTAGACTGTGTGTTTGTAGAAATTTGTCCATTTTGTCCAGGTTATCCAAATTGTTGGCATACAGTTTTACATAGTATCGTCTCATAATTCTTTTTATTTTTGCAAAATCAGTAGTGTCACCACTTTTTTTGTTGTTGTTGAGGGGGTGGGGGGGATAGAGTCTTGCTCTTTCGCACAGGCTGGAGTGCAGTGACAAGATCTTGGCTCACTGCAACCTCTGCCTCCTGG... | pathogenic | 267,009 |
Considering the genetic mutation at chromosome 17, position 31200483, impacting NF1 (neurofibromin 1): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome', 'Juvenile_myelomonocytic_leukemia', 'Neurofibromatosis,_type_1'] | AGTTATAGTTCTATTTAGATTTTCTATTTCCTCATGAGTTAGTTTCGGTAGACTGTGTGTTTGTAGAAATTTGTCCATTTTGTCCAGGTTATCCAAATTGTTGGCATACAGTTTTACATAGTATCGTCTCATAATTCTTTTTATTTTTGCAAAATCAGTAGTGTCACCACTTTTTTTGTTGTTGTTGAGGGGGTGGGGGGGATAGAGTCTTGCTCTTTCGCACAGGCTGGAGTGCAGTGACAAGATCTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCTTCAGCTTCCCTAGTAGCTGGGACTA... | AGTTATAGTTCTATTTAGATTTTCTATTTCCTCATGAGTTAGTTTCGGTAGACTGTGTGTTTGTAGAAATTTGTCCATTTTGTCCAGGTTATCCAAATTGTTGGCATACAGTTTTACATAGTATCGTCTCATAATTCTTTTTATTTTTGCAAAATCAGTAGTGTCACCACTTTTTTTGTTGTTGTTGAGGGGGTGGGGGGGATAGAGTCTTGCTCTTTCGCACAGGCTGGAGTGCAGTGACAAGATCTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCTTCAGCTTCCCTAGTAGCTGGGACTA... | pathogenic | 267,017 |
Does the variant impacting NF1 (neurofibromin 1) on chromosome 17, position 31200483, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome', 'Neurofibromatosis,_type_1'] | AGTTATAGTTCTATTTAGATTTTCTATTTCCTCATGAGTTAGTTTCGGTAGACTGTGTGTTTGTAGAAATTTGTCCATTTTGTCCAGGTTATCCAAATTGTTGGCATACAGTTTTACATAGTATCGTCTCATAATTCTTTTTATTTTTGCAAAATCAGTAGTGTCACCACTTTTTTTGTTGTTGTTGAGGGGGTGGGGGGGATAGAGTCTTGCTCTTTCGCACAGGCTGGAGTGCAGTGACAAGATCTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCTTCAGCTTCCCTAGTAGCTGGGACTA... | AGTTATAGTTCTATTTAGATTTTCTATTTCCTCATGAGTTAGTTTCGGTAGACTGTGTGTTTGTAGAAATTTGTCCATTTTGTCCAGGTTATCCAAATTGTTGGCATACAGTTTTACATAGTATCGTCTCATAATTCTTTTTATTTTTGCAAAATCAGTAGTGTCACCACTTTTTTTGTTGTTGTTGAGGGGGTGGGGGGGATAGAGTCTTGCTCTTTCGCACAGGCTGGAGTGCAGTGACAAGATCTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCTTCAGCTTCCCTAGTAGCTGGGACTA... | pathogenic | 267,018 |
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