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 |
|---|---|---|---|---|---|
Determine whether the variant at chromosome 16, position 68823451, in gene CDH1 (cadherin 1) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['CDH1-related_diffuse_gastric_and_lobular_breast_cancer_syndrome', 'Hereditary_diffuse_gastric_adenocarcinoma'] | GAGGCTGCAGTGAACTGTGTTCATGCCACTGCATTCCCGCCTGGGTGACAGAGTGAGACTCTGCCTCAAAAAAAAAAAAAAAAGCGTATGTGAACTCCCCAATCTATTTTGAAAACCAATTTGCAGAGACTTCAAAAGACCCAACTCATCCCCTTTGATTTTAAGCTTCTAGTCAGGCTTAAAATTAAAATAAATAAAAAGACTCAATGCTTTGTTAATGACCTCAAATGGCAGGAAAGTGCAGAAAAAGGAGAACTAGGGAAACAACAGGCAGGCAATAGGACTTCTTGGAGTAGTTAAAATTCAGTGAATGAATAACG... | GAGGCTGCAGTGAACTGTGTTCATGCCACTGCATTCCCGCCTGGGTGACAGAGTGAGACTCTGCCTCAAAAAAAAAAAAAAAAGCGTATGTGAACTCCCCAATCTATTTTGAAAACCAATTTGCAGAGACTTCAAAAGACCCAACTCATCCCCTTTGATTTTAAGCTTCTAGTCAGGCTTAAAATTAAAATAAATAAAAAGACTCAATGCTTTGTTAATGACCTCAAATGGCAGGAAAGTGCAGAAAAAGGAGAACTAGGGAAACAACAGGCAGGCAATAGGACTTCTTGGAGTAGTTAAAATTCAGTGAATGAATAACG... | pathogenic | 254,465 |
Is the genetic mutation found on chromosome 16 at position 68823460, within the gene CDH1 (cadherin 1), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['CDH1-related_diffuse_gastric_and_lobular_breast_cancer_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome', 'Hereditary_diffuse_gastric_adenocarcinoma', 'Malignant_tumor_of_breast'] | GTGAACTGTGTTCATGCCACTGCATTCCCGCCTGGGTGACAGAGTGAGACTCTGCCTCAAAAAAAAAAAAAAAAGCGTATGTGAACTCCCCAATCTATTTTGAAAACCAATTTGCAGAGACTTCAAAAGACCCAACTCATCCCCTTTGATTTTAAGCTTCTAGTCAGGCTTAAAATTAAAATAAATAAAAAGACTCAATGCTTTGTTAATGACCTCAAATGGCAGGAAAGTGCAGAAAAAGGAGAACTAGGGAAACAACAGGCAGGCAATAGGACTTCTTGGAGTAGTTAAAATTCAGTGAATGAATAACGATATGTGAA... | GTGAACTGTGTTCATGCCACTGCATTCCCGCCTGGGTGACAGAGTGAGACTCTGCCTCAAAAAAAAAAAAAAAAGCGTATGTGAACTCCCCAATCTATTTTGAAAACCAATTTGCAGAGACTTCAAAAGACCCAACTCATCCCCTTTGATTTTAAGCTTCTAGTCAGGCTTAAAATTAAAATAAATAAAAAGACTCAATGCTTTGTTAATGACCTCAAATGGCAGGAAAGTGCAGAAAAAGGAGAACTAGGGAAACAACAGGCAGGCAATAGGACTTCTTGGAGTAGTTAAAATTCAGTGAATGAATAACGATATGTGAA... | pathogenic | 254,467 |
Clinical impact (benign or pathogenic) of the variant at chromosome 16, location 68823489, gene CDH1 (cadherin 1): what disease(s) if pathogenic? | pathogenic; ['CDH1-related_diffuse_gastric_and_lobular_breast_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome', 'Hereditary_diffuse_gastric_adenocarcinoma'] | GCCTGGGTGACAGAGTGAGACTCTGCCTCAAAAAAAAAAAAAAAAGCGTATGTGAACTCCCCAATCTATTTTGAAAACCAATTTGCAGAGACTTCAAAAGACCCAACTCATCCCCTTTGATTTTAAGCTTCTAGTCAGGCTTAAAATTAAAATAAATAAAAAGACTCAATGCTTTGTTAATGACCTCAAATGGCAGGAAAGTGCAGAAAAAGGAGAACTAGGGAAACAACAGGCAGGCAATAGGACTTCTTGGAGTAGTTAAAATTCAGTGAATGAATAACGATATGTGAAGAAGGAGGAGTGTGTTCTTGGTGTGAGGA... | GCCTGGGTGACAGAGTGAGACTCTGCCTCAAAAAAAAAAAAAAAAGCGTATGTGAACTCCCCAATCTATTTTGAAAACCAATTTGCAGAGACTTCAAAAGACCCAACTCATCCCCTTTGATTTTAAGCTTCTAGTCAGGCTTAAAATTAAAATAAATAAAAAGACTCAATGCTTTGTTAATGACCTCAAATGGCAGGAAAGTGCAGAAAAAGGAGAACTAGGGAAACAACAGGCAGGCAATAGGACTTCTTGGAGTAGTTAAAATTCAGTGAATGAATAACGATATGTGAAGAAGGAGGAGTGTGTTCTTGGTGTGAGGA... | pathogenic | 254,471 |
Regarding the variant at chromosome 16 and position 68823523, affecting gene CDH1 (cadherin 1): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Blepharocheilodontic_syndrome_1', 'CDH1-related_diffuse_gastric_and_lobular_breast_cancer_syndrome', 'CDH1-related_disorder', 'Endometrial_carcinoma', 'Familial_cancer_of_breast', 'Gastric_cancer', 'Hereditary_cancer-predisposing_syndrome', 'Hereditary_diffuse_gastric_adenocarcinoma', 'Malignant_tumor_of_... | AAAAAAAAAAAGCGTATGTGAACTCCCCAATCTATTTTGAAAACCAATTTGCAGAGACTTCAAAAGACCCAACTCATCCCCTTTGATTTTAAGCTTCTAGTCAGGCTTAAAATTAAAATAAATAAAAAGACTCAATGCTTTGTTAATGACCTCAAATGGCAGGAAAGTGCAGAAAAAGGAGAACTAGGGAAACAACAGGCAGGCAATAGGACTTCTTGGAGTAGTTAAAATTCAGTGAATGAATAACGATATGTGAAGAAGGAGGAGTGTGTTCTTGGTGTGAGGAATAACTTGAATAATTGTTATCAAGGTGGGAATAA... | AAAAAAAAAAAGCGTATGTGAACTCCCCAATCTATTTTGAAAACCAATTTGCAGAGACTTCAAAAGACCCAACTCATCCCCTTTGATTTTAAGCTTCTAGTCAGGCTTAAAATTAAAATAAATAAAAAGACTCAATGCTTTGTTAATGACCTCAAATGGCAGGAAAGTGCAGAAAAAGGAGAACTAGGGAAACAACAGGCAGGCAATAGGACTTCTTGGAGTAGTTAAAATTCAGTGAATGAATAACGATATGTGAAGAAGGAGGAGTGTGTTCTTGGTGTGAGGAATAACTTGAATAATTGTTATCAAGGTGGGAATAA... | pathogenic | 254,477 |
Variant chromosome 16, position 68823537, gene CDH1 (cadherin 1): benign or pathogenic? Disease(s)? | pathogenic; ['CDH1-related_diffuse_gastric_and_lobular_breast_cancer_syndrome'] | TATGTGAACTCCCCAATCTATTTTGAAAACCAATTTGCAGAGACTTCAAAAGACCCAACTCATCCCCTTTGATTTTAAGCTTCTAGTCAGGCTTAAAATTAAAATAAATAAAAAGACTCAATGCTTTGTTAATGACCTCAAATGGCAGGAAAGTGCAGAAAAAGGAGAACTAGGGAAACAACAGGCAGGCAATAGGACTTCTTGGAGTAGTTAAAATTCAGTGAATGAATAACGATATGTGAAGAAGGAGGAGTGTGTTCTTGGTGTGAGGAATAACTTGAATAATTGTTATCAAGGTGGGAATAAGTTGTCTGTGTAAA... | TATGTGAACTCCCCAATCTATTTTGAAAACCAATTTGCAGAGACTTCAAAAGACCCAACTCATCCCCTTTGATTTTAAGCTTCTAGTCAGGCTTAAAATTAAAATAAATAAAAAGACTCAATGCTTTGTTAATGACCTCAAATGGCAGGAAAGTGCAGAAAAAGGAGAACTAGGGAAACAACAGGCAGGCAATAGGACTTCTTGGAGTAGTTAAAATTCAGTGAATGAATAACGATATGTGAAGAAGGAGGAGTGTGTTCTTGGTGTGAGGAATAACTTGAATAATTGTTATCAAGGTGGGAATAAGTTGTCTGTGTAAA... | pathogenic | 254,479 |
A genetic variant on chromosome 16, position 68823538, affects the gene CDH1 (cadherin 1). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | benign | ATGTGAACTCCCCAATCTATTTTGAAAACCAATTTGCAGAGACTTCAAAAGACCCAACTCATCCCCTTTGATTTTAAGCTTCTAGTCAGGCTTAAAATTAAAATAAATAAAAAGACTCAATGCTTTGTTAATGACCTCAAATGGCAGGAAAGTGCAGAAAAAGGAGAACTAGGGAAACAACAGGCAGGCAATAGGACTTCTTGGAGTAGTTAAAATTCAGTGAATGAATAACGATATGTGAAGAAGGAGGAGTGTGTTCTTGGTGTGAGGAATAACTTGAATAATTGTTATCAAGGTGGGAATAAGTTGTCTGTGTAAAA... | ATGTGAACTCCCCAATCTATTTTGAAAACCAATTTGCAGAGACTTCAAAAGACCCAACTCATCCCCTTTGATTTTAAGCTTCTAGTCAGGCTTAAAATTAAAATAAATAAAAAGACTCAATGCTTTGTTAATGACCTCAAATGGCAGGAAAGTGCAGAAAAAGGAGAACTAGGGAAACAACAGGCAGGCAATAGGACTTCTTGGAGTAGTTAAAATTCAGTGAATGAATAACGATATGTGAAGAAGGAGGAGTGTGTTCTTGGTGTGAGGAATAACTTGAATAATTGTTATCAAGGTGGGAATAAGTTGTCTGTGTAAAA... | benign | 254,481 |
Clinical significance of chromosome 16, position 68823561, gene CDH1 (cadherin 1): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['CDH1-related_diffuse_gastric_and_lobular_breast_cancer_syndrome', 'CDH1-related_disorder', 'Hereditary_diffuse_gastric_adenocarcinoma'] | GAAAACCAATTTGCAGAGACTTCAAAAGACCCAACTCATCCCCTTTGATTTTAAGCTTCTAGTCAGGCTTAAAATTAAAATAAATAAAAAGACTCAATGCTTTGTTAATGACCTCAAATGGCAGGAAAGTGCAGAAAAAGGAGAACTAGGGAAACAACAGGCAGGCAATAGGACTTCTTGGAGTAGTTAAAATTCAGTGAATGAATAACGATATGTGAAGAAGGAGGAGTGTGTTCTTGGTGTGAGGAATAACTTGAATAATTGTTATCAAGGTGGGAATAAGTTGTCTGTGTAAAACGGCCAGAGACCTGCCCACCTGG... | GAAAACCAATTTGCAGAGACTTCAAAAGACCCAACTCATCCCCTTTGATTTTAAGCTTCTAGTCAGGCTTAAAATTAAAATAAATAAAAAGACTCAATGCTTTGTTAATGACCTCAAATGGCAGGAAAGTGCAGAAAAAGGAGAACTAGGGAAACAACAGGCAGGCAATAGGACTTCTTGGAGTAGTTAAAATTCAGTGAATGAATAACGATATGTGAAGAAGGAGGAGTGTGTTCTTGGTGTGAGGAATAACTTGAATAATTGTTATCAAGGTGGGAATAAGTTGTCTGTGTAAAACGGCCAGAGACCTGCCCACCTGG... | pathogenic | 254,487 |
The genetic variant at chromosome 16, position 68823574, affecting gene CDH1 (cadherin 1): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Hereditary_diffuse_gastric_adenocarcinoma'] | CAGAGACTTCAAAAGACCCAACTCATCCCCTTTGATTTTAAGCTTCTAGTCAGGCTTAAAATTAAAATAAATAAAAAGACTCAATGCTTTGTTAATGACCTCAAATGGCAGGAAAGTGCAGAAAAAGGAGAACTAGGGAAACAACAGGCAGGCAATAGGACTTCTTGGAGTAGTTAAAATTCAGTGAATGAATAACGATATGTGAAGAAGGAGGAGTGTGTTCTTGGTGTGAGGAATAACTTGAATAATTGTTATCAAGGTGGGAATAAGTTGTCTGTGTAAAACGGCCAGAGACCTGCCCACCTGGGAGTGGAGGTCCT... | CAGAGACTTCAAAAGACCCAACTCATCCCCTTTGATTTTAAGCTTCTAGTCAGGCTTAAAATTAAAATAAATAAAAAGACTCAATGCTTTGTTAATGACCTCAAATGGCAGGAAAGTGCAGAAAAAGGAGAACTAGGGAAACAACAGGCAGGCAATAGGACTTCTTGGAGTAGTTAAAATTCAGTGAATGAATAACGATATGTGAAGAAGGAGGAGTGTGTTCTTGGTGTGAGGAATAACTTGAATAATTGTTATCAAGGTGGGAATAAGTTGTCTGTGTAAAACGGCCAGAGACCTGCCCACCTGGGAGTGGAGGTCCT... | pathogenic | 254,493 |
Regarding the variant at chromosome 16 and position 68823604, affecting gene CDH1 (cadherin 1): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['CDH1-related_diffuse_gastric_and_lobular_breast_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome', 'Hereditary_diffuse_gastric_adenocarcinoma'] | TTTGATTTTAAGCTTCTAGTCAGGCTTAAAATTAAAATAAATAAAAAGACTCAATGCTTTGTTAATGACCTCAAATGGCAGGAAAGTGCAGAAAAAGGAGAACTAGGGAAACAACAGGCAGGCAATAGGACTTCTTGGAGTAGTTAAAATTCAGTGAATGAATAACGATATGTGAAGAAGGAGGAGTGTGTTCTTGGTGTGAGGAATAACTTGAATAATTGTTATCAAGGTGGGAATAAGTTGTCTGTGTAAAACGGCCAGAGACCTGCCCACCTGGGAGTGGAGGTCCTTTGGGATTGGTGGGACAGGAGGTTCTGCGG... | TTTGATTTTAAGCTTCTAGTCAGGCTTAAAATTAAAATAAATAAAAAGACTCAATGCTTTGTTAATGACCTCAAATGGCAGGAAAGTGCAGAAAAAGGAGAACTAGGGAAACAACAGGCAGGCAATAGGACTTCTTGGAGTAGTTAAAATTCAGTGAATGAATAACGATATGTGAAGAAGGAGGAGTGTGTTCTTGGTGTGAGGAATAACTTGAATAATTGTTATCAAGGTGGGAATAAGTTGTCTGTGTAAAACGGCCAGAGACCTGCCCACCTGGGAGTGGAGGTCCTTTGGGATTGGTGGGACAGGAGGTTCTGCGG... | pathogenic | 254,503 |
The chromosome 16, position 68823641 genetic variant in gene CDH1 (cadherin 1): benign or pathogenic? If pathogenic, indicate disease(s). | benign | TAAATAAAAAGACTCAATGCTTTGTTAATGACCTCAAATGGCAGGAAAGTGCAGAAAAAGGAGAACTAGGGAAACAACAGGCAGGCAATAGGACTTCTTGGAGTAGTTAAAATTCAGTGAATGAATAACGATATGTGAAGAAGGAGGAGTGTGTTCTTGGTGTGAGGAATAACTTGAATAATTGTTATCAAGGTGGGAATAAGTTGTCTGTGTAAAACGGCCAGAGACCTGCCCACCTGGGAGTGGAGGTCCTTTGGGATTGGTGGGACAGGAGGTTCTGCGGGTGGAGTGGGGCCTGGTGAGGGACCACTGAAGAGCCA... | TAAATAAAAAGACTCAATGCTTTGTTAATGACCTCAAATGGCAGGAAAGTGCAGAAAAAGGAGAACTAGGGAAACAACAGGCAGGCAATAGGACTTCTTGGAGTAGTTAAAATTCAGTGAATGAATAACGATATGTGAAGAAGGAGGAGTGTGTTCTTGGTGTGAGGAATAACTTGAATAATTGTTATCAAGGTGGGAATAAGTTGTCTGTGTAAAACGGCCAGAGACCTGCCCACCTGGGAGTGGAGGTCCTTTGGGATTGGTGGGACAGGAGGTTCTGCGGGTGGAGTGGGGCCTGGTGAGGGACCACTGAAGAGCCA... | benign | 254,518 |
Clinical impact (benign or pathogenic) of the variant at chromosome 16, location 68828158, gene CDH1 (cadherin 1): what disease(s) if pathogenic? | benign | GTGCCCAGCCAGGGAATCTTAAAGATTGTAGTTATACTTGAAATATTTTTTTTTTAAATAGGATTACCTAAATTTGCTATGGGTATGTATTTTTTTAGACACTGGGGGTGGGGATTCCCATGTAGAGCAACATTTAAAACAGAGGCAATGCCAGAGTTCAGATGTTCAATTTCAATTTCTTGTATTTTTAACTTCTATGATTATTTTTTCTTTCTTTATTAGAGATGGGTTCTCACTATGTTACTCACATTGGTCTCAAACTCTTGAGCTCAAGTGATCCTCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTG... | GTGCCCAGCCAGGGAATCTTAAAGATTGTAGTTATACTTGAAATATTTTTTTTTTAAATAGGATTACCTAAATTTGCTATGGGTATGTATTTTTTTAGACACTGGGGGTGGGGATTCCCATGTAGAGCAACATTTAAAACAGAGGCAATGCCAGAGTTCAGATGTTCAATTTCAATTTCTTGTATTTTTAACTTCTATGATTATTTTTTCTTTCTTTATTAGAGATGGGTTCTCACTATGTTACTCACATTGGTCTCAAACTCTTGAGCTCAAGTGATCCTCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTG... | benign | 254,524 |
Chromosome 16, position 68828226, gene CDH1 (cadherin 1): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Hereditary_diffuse_gastric_adenocarcinoma'] | TAAATTTGCTATGGGTATGTATTTTTTTAGACACTGGGGGTGGGGATTCCCATGTAGAGCAACATTTAAAACAGAGGCAATGCCAGAGTTCAGATGTTCAATTTCAATTTCTTGTATTTTTAACTTCTATGATTATTTTTTCTTTCTTTATTAGAGATGGGTTCTCACTATGTTACTCACATTGGTCTCAAACTCTTGAGCTCAAGTGATCCTCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTCCTCCGGCCAATTTCTTGTTTCTTAAGGGCACAAATGTGCTAGAGGCTGGGCACGGTGGCT... | TAAATTTGCTATGGGTATGTATTTTTTTAGACACTGGGGGTGGGGATTCCCATGTAGAGCAACATTTAAAACAGAGGCAATGCCAGAGTTCAGATGTTCAATTTCAATTTCTTGTATTTTTAACTTCTATGATTATTTTTTCTTTCTTTATTAGAGATGGGTTCTCACTATGTTACTCACATTGGTCTCAAACTCTTGAGCTCAAGTGATCCTCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTCCTCCGGCCAATTTCTTGTTTCTTAAGGGCACAAATGTGCTAGAGGCTGGGCACGGTGGCT... | pathogenic | 254,548 |
For chromosome 16, position 68828283, gene CDH1 (cadherin 1): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['CDH1-related_diffuse_gastric_and_lobular_breast_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome', 'Hereditary_diffuse_gastric_adenocarcinoma'] | AGCAACATTTAAAACAGAGGCAATGCCAGAGTTCAGATGTTCAATTTCAATTTCTTGTATTTTTAACTTCTATGATTATTTTTTCTTTCTTTATTAGAGATGGGTTCTCACTATGTTACTCACATTGGTCTCAAACTCTTGAGCTCAAGTGATCCTCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTCCTCCGGCCAATTTCTTGTTTCTTAAGGGCACAAATGTGCTAGAGGCTGGGCACGGTGGCTCACATCTATAATCTCAACACTTTGGGAGGCTGAGGTGGCAGGATTGCTTGAACCTAG... | AGCAACATTTAAAACAGAGGCAATGCCAGAGTTCAGATGTTCAATTTCAATTTCTTGTATTTTTAACTTCTATGATTATTTTTTCTTTCTTTATTAGAGATGGGTTCTCACTATGTTACTCACATTGGTCTCAAACTCTTGAGCTCAAGTGATCCTCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTCCTCCGGCCAATTTCTTGTTTCTTAAGGGCACAAATGTGCTAGAGGCTGGGCACGGTGGCTCACATCTATAATCTCAACACTTTGGGAGGCTGAGGTGGCAGGATTGCTTGAACCTAG... | pathogenic | 254,571 |
Considering the variant on chromosome 16, location 68829639, involving gene CDH1 (cadherin 1), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | benign | CAATTTTATAGTCTCTGTCCCACTCCCCATAGCTGGTTATGTATCAATCACATTTGGGCTAACCTAGGAGCCCTGCTCACAAACCTTCAATGGCTCCAACTCAGAATCAAAGCCAAAGTCCTCACAGTGGCCCATATGTCCCTCCCGCCCTGCTTGCCCCTCTGAGCTCTTCTCCATGTCTCTTCCCCTCATGCACCCTGCTACAGCCATGCTGGCCTCCTCACCTTCCCTCCATCACACCAAACATGCTCCTCCTGCCTCAGGACCTCTGTCCTTACTGTTTCCTCTGCCTGGAACACTTTCCCCCAGATTTGGGAAAA... | CAATTTTATAGTCTCTGTCCCACTCCCCATAGCTGGTTATGTATCAATCACATTTGGGCTAACCTAGGAGCCCTGCTCACAAACCTTCAATGGCTCCAACTCAGAATCAAAGCCAAAGTCCTCACAGTGGCCCATATGTCCCTCCCGCCCTGCTTGCCCCTCTGAGCTCTTCTCCATGTCTCTTCCCCTCATGCACCCTGCTACAGCCATGCTGGCCTCCTCACCTTCCCTCCATCACACCAAACATGCTCCTCCTGCCTCAGGACCTCTGTCCTTACTGTTTCCTCTGCCTGGAACACTTTCCCCCAGATTTGGGAAAA... | benign | 254,591 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 16, position 68829678, gene CDH1 (cadherin 1). What disease(s) is it linked to if pathogenic? | pathogenic; ['CDH1-related_diffuse_gastric_and_lobular_breast_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome', 'Hereditary_diffuse_gastric_adenocarcinoma'] | TGTATCAATCACATTTGGGCTAACCTAGGAGCCCTGCTCACAAACCTTCAATGGCTCCAACTCAGAATCAAAGCCAAAGTCCTCACAGTGGCCCATATGTCCCTCCCGCCCTGCTTGCCCCTCTGAGCTCTTCTCCATGTCTCTTCCCCTCATGCACCCTGCTACAGCCATGCTGGCCTCCTCACCTTCCCTCCATCACACCAAACATGCTCCTCCTGCCTCAGGACCTCTGTCCTTACTGTTTCCTCTGCCTGGAACACTTTCCCCCAGATTTGGGAAAATGACAGTGATTGAGTTTAAAACCCATCTGAAAGTTAAGG... | TGTATCAATCACATTTGGGCTAACCTAGGAGCCCTGCTCACAAACCTTCAATGGCTCCAACTCAGAATCAAAGCCAAAGTCCTCACAGTGGCCCATATGTCCCTCCCGCCCTGCTTGCCCCTCTGAGCTCTTCTCCATGTCTCTTCCCCTCATGCACCCTGCTACAGCCATGCTGGCCTCCTCACCTTCCCTCCATCACACCAAACATGCTCCTCCTGCCTCAGGACCTCTGTCCTTACTGTTTCCTCTGCCTGGAACACTTTCCCCCAGATTTGGGAAAATGACAGTGATTGAGTTTAAAACCCATCTGAAAGTTAAGG... | pathogenic | 254,604 |
Variant in gene CDH1 (cadherin 1), located at chromosome 16 position 68829713: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_diffuse_gastric_adenocarcinoma'] | GCTCACAAACCTTCAATGGCTCCAACTCAGAATCAAAGCCAAAGTCCTCACAGTGGCCCATATGTCCCTCCCGCCCTGCTTGCCCCTCTGAGCTCTTCTCCATGTCTCTTCCCCTCATGCACCCTGCTACAGCCATGCTGGCCTCCTCACCTTCCCTCCATCACACCAAACATGCTCCTCCTGCCTCAGGACCTCTGTCCTTACTGTTTCCTCTGCCTGGAACACTTTCCCCCAGATTTGGGAAAATGACAGTGATTGAGTTTAAAACCCATCTGAAAGTTAAGGACCATGCTTGAGTTCACATATCACTGTCTACTATG... | GCTCACAAACCTTCAATGGCTCCAACTCAGAATCAAAGCCAAAGTCCTCACAGTGGCCCATATGTCCCTCCCGCCCTGCTTGCCCCTCTGAGCTCTTCTCCATGTCTCTTCCCCTCATGCACCCTGCTACAGCCATGCTGGCCTCCTCACCTTCCCTCCATCACACCAAACATGCTCCTCCTGCCTCAGGACCTCTGTCCTTACTGTTTCCTCTGCCTGGAACACTTTCCCCCAGATTTGGGAAAATGACAGTGATTGAGTTTAAAACCCATCTGAAAGTTAAGGACCATGCTTGAGTTCACATATCACTGTCTACTATG... | pathogenic | 254,620 |
Variant in gene CDH1 (cadherin 1), located at chromosome 16 position 68829739: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['CDH1-related_diffuse_gastric_and_lobular_breast_cancer_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome', 'Hereditary_diffuse_gastric_adenocarcinoma'] | TCAGAATCAAAGCCAAAGTCCTCACAGTGGCCCATATGTCCCTCCCGCCCTGCTTGCCCCTCTGAGCTCTTCTCCATGTCTCTTCCCCTCATGCACCCTGCTACAGCCATGCTGGCCTCCTCACCTTCCCTCCATCACACCAAACATGCTCCTCCTGCCTCAGGACCTCTGTCCTTACTGTTTCCTCTGCCTGGAACACTTTCCCCCAGATTTGGGAAAATGACAGTGATTGAGTTTAAAACCCATCTGAAAGTTAAGGACCATGCTTGAGTTCACATATCACTGTCTACTATGTTGTACTGTACATACCGACTTCAGGG... | TCAGAATCAAAGCCAAAGTCCTCACAGTGGCCCATATGTCCCTCCCGCCCTGCTTGCCCCTCTGAGCTCTTCTCCATGTCTCTTCCCCTCATGCACCCTGCTACAGCCATGCTGGCCTCCTCACCTTCCCTCCATCACACCAAACATGCTCCTCCTGCCTCAGGACCTCTGTCCTTACTGTTTCCTCTGCCTGGAACACTTTCCCCCAGATTTGGGAAAATGACAGTGATTGAGTTTAAAACCCATCTGAAAGTTAAGGACCATGCTTGAGTTCACATATCACTGTCTACTATGTTGTACTGTACATACCGACTTCAGGG... | pathogenic | 254,628 |
Does the genetic variant at chromosome 16, position 68829739, impacting gene CDH1 (cadherin 1), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome', 'Hereditary_diffuse_gastric_adenocarcinoma'] | TCAGAATCAAAGCCAAAGTCCTCACAGTGGCCCATATGTCCCTCCCGCCCTGCTTGCCCCTCTGAGCTCTTCTCCATGTCTCTTCCCCTCATGCACCCTGCTACAGCCATGCTGGCCTCCTCACCTTCCCTCCATCACACCAAACATGCTCCTCCTGCCTCAGGACCTCTGTCCTTACTGTTTCCTCTGCCTGGAACACTTTCCCCCAGATTTGGGAAAATGACAGTGATTGAGTTTAAAACCCATCTGAAAGTTAAGGACCATGCTTGAGTTCACATATCACTGTCTACTATGTTGTACTGTACATACCGACTTCAGGG... | TCAGAATCAAAGCCAAAGTCCTCACAGTGGCCCATATGTCCCTCCCGCCCTGCTTGCCCCTCTGAGCTCTTCTCCATGTCTCTTCCCCTCATGCACCCTGCTACAGCCATGCTGGCCTCCTCACCTTCCCTCCATCACACCAAACATGCTCCTCCTGCCTCAGGACCTCTGTCCTTACTGTTTCCTCTGCCTGGAACACTTTCCCCCAGATTTGGGAAAATGACAGTGATTGAGTTTAAAACCCATCTGAAAGTTAAGGACCATGCTTGAGTTCACATATCACTGTCTACTATGTTGTACTGTACATACCGACTTCAGGG... | pathogenic | 254,629 |
Located at chromosome 16 position 68829742, the variant affecting gene CDH1 (cadherin 1)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['CDH1-related_diffuse_gastric_and_lobular_breast_cancer_syndrome', 'Hereditary_diffuse_gastric_adenocarcinoma'] | GAATCAAAGCCAAAGTCCTCACAGTGGCCCATATGTCCCTCCCGCCCTGCTTGCCCCTCTGAGCTCTTCTCCATGTCTCTTCCCCTCATGCACCCTGCTACAGCCATGCTGGCCTCCTCACCTTCCCTCCATCACACCAAACATGCTCCTCCTGCCTCAGGACCTCTGTCCTTACTGTTTCCTCTGCCTGGAACACTTTCCCCCAGATTTGGGAAAATGACAGTGATTGAGTTTAAAACCCATCTGAAAGTTAAGGACCATGCTTGAGTTCACATATCACTGTCTACTATGTTGTACTGTACATACCGACTTCAGGGATG... | GAATCAAAGCCAAAGTCCTCACAGTGGCCCATATGTCCCTCCCGCCCTGCTTGCCCCTCTGAGCTCTTCTCCATGTCTCTTCCCCTCATGCACCCTGCTACAGCCATGCTGGCCTCCTCACCTTCCCTCCATCACACCAAACATGCTCCTCCTGCCTCAGGACCTCTGTCCTTACTGTTTCCTCTGCCTGGAACACTTTCCCCCAGATTTGGGAAAATGACAGTGATTGAGTTTAAAACCCATCTGAAAGTTAAGGACCATGCTTGAGTTCACATATCACTGTCTACTATGTTGTACTGTACATACCGACTTCAGGGATG... | pathogenic | 254,632 |
Determine whether the variant at chromosome 16, position 68829752, in gene CDH1 (cadherin 1) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['CDH1-related_diffuse_gastric_and_lobular_breast_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome', 'Hereditary_diffuse_gastric_adenocarcinoma'] | CAAAGTCCTCACAGTGGCCCATATGTCCCTCCCGCCCTGCTTGCCCCTCTGAGCTCTTCTCCATGTCTCTTCCCCTCATGCACCCTGCTACAGCCATGCTGGCCTCCTCACCTTCCCTCCATCACACCAAACATGCTCCTCCTGCCTCAGGACCTCTGTCCTTACTGTTTCCTCTGCCTGGAACACTTTCCCCCAGATTTGGGAAAATGACAGTGATTGAGTTTAAAACCCATCTGAAAGTTAAGGACCATGCTTGAGTTCACATATCACTGTCTACTATGTTGTACTGTACATACCGACTTCAGGGATGTGAGTGTCAC... | CAAAGTCCTCACAGTGGCCCATATGTCCCTCCCGCCCTGCTTGCCCCTCTGAGCTCTTCTCCATGTCTCTTCCCCTCATGCACCCTGCTACAGCCATGCTGGCCTCCTCACCTTCCCTCCATCACACCAAACATGCTCCTCCTGCCTCAGGACCTCTGTCCTTACTGTTTCCTCTGCCTGGAACACTTTCCCCCAGATTTGGGAAAATGACAGTGATTGAGTTTAAAACCCATCTGAAAGTTAAGGACCATGCTTGAGTTCACATATCACTGTCTACTATGTTGTACTGTACATACCGACTTCAGGGATGTGAGTGTCAC... | pathogenic | 254,635 |
Gene CDH1 (cadherin 1) variant at chromosome 16, position 68829784—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['CDH1-related_diffuse_gastric_and_lobular_breast_cancer_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome', 'Hereditary_diffuse_gastric_adenocarcinoma'] | CGCCCTGCTTGCCCCTCTGAGCTCTTCTCCATGTCTCTTCCCCTCATGCACCCTGCTACAGCCATGCTGGCCTCCTCACCTTCCCTCCATCACACCAAACATGCTCCTCCTGCCTCAGGACCTCTGTCCTTACTGTTTCCTCTGCCTGGAACACTTTCCCCCAGATTTGGGAAAATGACAGTGATTGAGTTTAAAACCCATCTGAAAGTTAAGGACCATGCTTGAGTTCACATATCACTGTCTACTATGTTGTACTGTACATACCGACTTCAGGGATGTGAGTGTCACGTGGATTGACATCTTCAAGTGTATTGAAGGCA... | CGCCCTGCTTGCCCCTCTGAGCTCTTCTCCATGTCTCTTCCCCTCATGCACCCTGCTACAGCCATGCTGGCCTCCTCACCTTCCCTCCATCACACCAAACATGCTCCTCCTGCCTCAGGACCTCTGTCCTTACTGTTTCCTCTGCCTGGAACACTTTCCCCCAGATTTGGGAAAATGACAGTGATTGAGTTTAAAACCCATCTGAAAGTTAAGGACCATGCTTGAGTTCACATATCACTGTCTACTATGTTGTACTGTACATACCGACTTCAGGGATGTGAGTGTCACGTGGATTGACATCTTCAAGTGTATTGAAGGCA... | pathogenic | 254,645 |
A genetic variant on chromosome 16, position 68829795, affects the gene CDH1 (cadherin 1). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['CDH1-related_diffuse_gastric_and_lobular_breast_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome', 'Hereditary_diffuse_gastric_adenocarcinoma'] | CCCCTCTGAGCTCTTCTCCATGTCTCTTCCCCTCATGCACCCTGCTACAGCCATGCTGGCCTCCTCACCTTCCCTCCATCACACCAAACATGCTCCTCCTGCCTCAGGACCTCTGTCCTTACTGTTTCCTCTGCCTGGAACACTTTCCCCCAGATTTGGGAAAATGACAGTGATTGAGTTTAAAACCCATCTGAAAGTTAAGGACCATGCTTGAGTTCACATATCACTGTCTACTATGTTGTACTGTACATACCGACTTCAGGGATGTGAGTGTCACGTGGATTGACATCTTCAAGTGTATTGAAGGCAGCTAGTGGCTG... | CCCCTCTGAGCTCTTCTCCATGTCTCTTCCCCTCATGCACCCTGCTACAGCCATGCTGGCCTCCTCACCTTCCCTCCATCACACCAAACATGCTCCTCCTGCCTCAGGACCTCTGTCCTTACTGTTTCCTCTGCCTGGAACACTTTCCCCCAGATTTGGGAAAATGACAGTGATTGAGTTTAAAACCCATCTGAAAGTTAAGGACCATGCTTGAGTTCACATATCACTGTCTACTATGTTGTACTGTACATACCGACTTCAGGGATGTGAGTGTCACGTGGATTGACATCTTCAAGTGTATTGAAGGCAGCTAGTGGCTG... | pathogenic | 254,647 |
Regarding the variant found on chromosome 16 at position 68829811 in gene CDH1 (cadherin 1): is it benign or pathogenic? If pathogenic, identify the disease(s). | benign | TCCATGTCTCTTCCCCTCATGCACCCTGCTACAGCCATGCTGGCCTCCTCACCTTCCCTCCATCACACCAAACATGCTCCTCCTGCCTCAGGACCTCTGTCCTTACTGTTTCCTCTGCCTGGAACACTTTCCCCCAGATTTGGGAAAATGACAGTGATTGAGTTTAAAACCCATCTGAAAGTTAAGGACCATGCTTGAGTTCACATATCACTGTCTACTATGTTGTACTGTACATACCGACTTCAGGGATGTGAGTGTCACGTGGATTGACATCTTCAAGTGTATTGAAGGCAGCTAGTGGCTGTCTAACTGCCCCCTGT... | TCCATGTCTCTTCCCCTCATGCACCCTGCTACAGCCATGCTGGCCTCCTCACCTTCCCTCCATCACACCAAACATGCTCCTCCTGCCTCAGGACCTCTGTCCTTACTGTTTCCTCTGCCTGGAACACTTTCCCCCAGATTTGGGAAAATGACAGTGATTGAGTTTAAAACCCATCTGAAAGTTAAGGACCATGCTTGAGTTCACATATCACTGTCTACTATGTTGTACTGTACATACCGACTTCAGGGATGTGAGTGTCACGTGGATTGACATCTTCAAGTGTATTGAAGGCAGCTAGTGGCTGTCTAACTGCCCCCTGT... | benign | 254,653 |
Assess the variant on chromosome 16, position 68833281, impacting CDH1 (cadherin 1): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | benign | CAAGCCTGGCTTTTTTTTTTTTTTTTAATTTTATTTTTAGTAGAGACAGGGTTTCACCATGTTAACCAGATGGTCTCGATCTCCTGACCTCAGGTGATCTGCCTGCCTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACCACGCCCGGACTGCTTTAGCTTTCTATGGGAGCTGTCACTGAGGACTGTGAGGCACTGCAGTGTTAGAAGTGATCAAGCCACATTCATTTTAGCCACTGGAAAAAACAAGAAACAGAAAGAAACCAGTTTAACCATGCCTTTTATTTATTTATTTATTTTTATTTTTATTTTCA... | CAAGCCTGGCTTTTTTTTTTTTTTTTAATTTTATTTTTAGTAGAGACAGGGTTTCACCATGTTAACCAGATGGTCTCGATCTCCTGACCTCAGGTGATCTGCCTGCCTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACCACGCCCGGACTGCTTTAGCTTTCTATGGGAGCTGTCACTGAGGACTGTGAGGCACTGCAGTGTTAGAAGTGATCAAGCCACATTCATTTTAGCCACTGGAAAAAACAAGAAACAGAAAGAAACCAGTTTAACCATGCCTTTTATTTATTTATTTATTTTTATTTTTATTTTCA... | benign | 254,668 |
A genetic variant on chromosome 16, position 68833283, affects the gene CDH1 (cadherin 1). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | benign | AGCCTGGCTTTTTTTTTTTTTTTTAATTTTATTTTTAGTAGAGACAGGGTTTCACCATGTTAACCAGATGGTCTCGATCTCCTGACCTCAGGTGATCTGCCTGCCTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACCACGCCCGGACTGCTTTAGCTTTCTATGGGAGCTGTCACTGAGGACTGTGAGGCACTGCAGTGTTAGAAGTGATCAAGCCACATTCATTTTAGCCACTGGAAAAAACAAGAAACAGAAAGAAACCAGTTTAACCATGCCTTTTATTTATTTATTTATTTTTATTTTTATTTTCATT... | AGCCTGGCTTTTTTTTTTTTTTTTAATTTTATTTTTAGTAGAGACAGGGTTTCACCATGTTAACCAGATGGTCTCGATCTCCTGACCTCAGGTGATCTGCCTGCCTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACCACGCCCGGACTGCTTTAGCTTTCTATGGGAGCTGTCACTGAGGACTGTGAGGCACTGCAGTGTTAGAAGTGATCAAGCCACATTCATTTTAGCCACTGGAAAAAACAAGAAACAGAAAGAAACCAGTTTAACCATGCCTTTTATTTATTTATTTATTTTTATTTTTATTTTCATT... | benign | 254,669 |
Does the genetic variant at chromosome 16, position 68833320, impacting gene CDH1 (cadherin 1), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['CDH1-related_diffuse_gastric_and_lobular_breast_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome', 'Hereditary_diffuse_gastric_adenocarcinoma'] | GTAGAGACAGGGTTTCACCATGTTAACCAGATGGTCTCGATCTCCTGACCTCAGGTGATCTGCCTGCCTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACCACGCCCGGACTGCTTTAGCTTTCTATGGGAGCTGTCACTGAGGACTGTGAGGCACTGCAGTGTTAGAAGTGATCAAGCCACATTCATTTTAGCCACTGGAAAAAACAAGAAACAGAAAGAAACCAGTTTAACCATGCCTTTTATTTATTTATTTATTTTTATTTTTATTTTCATTTTTTGAGACAGTTTCACTCTTGTCGCCCAGGCTGGAG... | GTAGAGACAGGGTTTCACCATGTTAACCAGATGGTCTCGATCTCCTGACCTCAGGTGATCTGCCTGCCTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACCACGCCCGGACTGCTTTAGCTTTCTATGGGAGCTGTCACTGAGGACTGTGAGGCACTGCAGTGTTAGAAGTGATCAAGCCACATTCATTTTAGCCACTGGAAAAAACAAGAAACAGAAAGAAACCAGTTTAACCATGCCTTTTATTTATTTATTTATTTTTATTTTTATTTTCATTTTTTGAGACAGTTTCACTCTTGTCGCCCAGGCTGGAG... | pathogenic | 254,685 |
The genetic variant at chromosome 16, position 68833329, affecting gene CDH1 (cadherin 1): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_diffuse_gastric_adenocarcinoma'] | GGGTTTCACCATGTTAACCAGATGGTCTCGATCTCCTGACCTCAGGTGATCTGCCTGCCTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACCACGCCCGGACTGCTTTAGCTTTCTATGGGAGCTGTCACTGAGGACTGTGAGGCACTGCAGTGTTAGAAGTGATCAAGCCACATTCATTTTAGCCACTGGAAAAAACAAGAAACAGAAAGAAACCAGTTTAACCATGCCTTTTATTTATTTATTTATTTTTATTTTTATTTTCATTTTTTGAGACAGTTTCACTCTTGTCGCCCAGGCTGGAGTGCAGTGGC... | GGGTTTCACCATGTTAACCAGATGGTCTCGATCTCCTGACCTCAGGTGATCTGCCTGCCTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACCACGCCCGGACTGCTTTAGCTTTCTATGGGAGCTGTCACTGAGGACTGTGAGGCACTGCAGTGTTAGAAGTGATCAAGCCACATTCATTTTAGCCACTGGAAAAAACAAGAAACAGAAAGAAACCAGTTTAACCATGCCTTTTATTTATTTATTTATTTTTATTTTTATTTTCATTTTTTGAGACAGTTTCACTCTTGTCGCCCAGGCTGGAGTGCAGTGGC... | pathogenic | 254,688 |
Chromosome 16, position 68833339, gene CDH1 (cadherin 1): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['CDH1-related_diffuse_gastric_and_lobular_breast_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome', 'Hereditary_diffuse_gastric_adenocarcinoma'] | ATGTTAACCAGATGGTCTCGATCTCCTGACCTCAGGTGATCTGCCTGCCTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACCACGCCCGGACTGCTTTAGCTTTCTATGGGAGCTGTCACTGAGGACTGTGAGGCACTGCAGTGTTAGAAGTGATCAAGCCACATTCATTTTAGCCACTGGAAAAAACAAGAAACAGAAAGAAACCAGTTTAACCATGCCTTTTATTTATTTATTTATTTTTATTTTTATTTTCATTTTTTGAGACAGTTTCACTCTTGTCGCCCAGGCTGGAGTGCAGTGGCGTAATCTTGG... | ATGTTAACCAGATGGTCTCGATCTCCTGACCTCAGGTGATCTGCCTGCCTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACCACGCCCGGACTGCTTTAGCTTTCTATGGGAGCTGTCACTGAGGACTGTGAGGCACTGCAGTGTTAGAAGTGATCAAGCCACATTCATTTTAGCCACTGGAAAAAACAAGAAACAGAAAGAAACCAGTTTAACCATGCCTTTTATTTATTTATTTATTTTTATTTTTATTTTCATTTTTTGAGACAGTTTCACTCTTGTCGCCCAGGCTGGAGTGCAGTGGCGTAATCTTGG... | pathogenic | 254,692 |
Is the genetic change at chromosome 16, position 69330989, within gene COG8 benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['COG8-congenital_disorder_of_glycosylation', 'COG8-related_disorder'] | ATGCCAAGTAAGATTTGCCCAGCTCAAAGTGAAAGTGTTTGCGTCTTGGTATCCGGAATCCTCAGCCCCAGTAGCAAAGCTTTAGTCATTCACCTTCATCCAATAGACGTTTGTGAACGTCCTGCTGTCCATTTTGTCAATAAACAGGCAGCCCTGCAGGTGGTCCATCTCGTGCTGGATGATGCGGGCTGCCCACCCGCTCGCCTGCCACACCACCTGTTCTCCATTGGGGTCCAGCCCTGCAAAGGAAGTTACAGCCCTGGTGAGTGGGAACAGCTGAACTGCATCATCCTCAACCTCCCTACCCCTGCCCCCGGTCC... | ATGCCAAGTAAGATTTGCCCAGCTCAAAGTGAAAGTGTTTGCGTCTTGGTATCCGGAATCCTCAGCCCCAGTAGCAAAGCTTTAGTCATTCACCTTCATCCAATAGACGTTTGTGAACGTCCTGCTGTCCATTTTGTCAATAAACAGGCAGCCCTGCAGGTGGTCCATCTCGTGCTGGATGATGCGGGCTGCCCACCCGCTCGCCTGCCACACCACCTGTTCTCCATTGGGGTCCAGCCCTGCAAAGGAAGTTACAGCCCTGGTGAGTGGGAACAGCTGAACTGCATCATCCTCAACCTCCCTACCCCTGCCCCCGGTCC... | pathogenic | 254,780 |
Chromosome 16, position 69330996, gene COG8: Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['COG8-congenital_disorder_of_glycosylation', 'COG8-related_disorder'] | GTAAGATTTGCCCAGCTCAAAGTGAAAGTGTTTGCGTCTTGGTATCCGGAATCCTCAGCCCCAGTAGCAAAGCTTTAGTCATTCACCTTCATCCAATAGACGTTTGTGAACGTCCTGCTGTCCATTTTGTCAATAAACAGGCAGCCCTGCAGGTGGTCCATCTCGTGCTGGATGATGCGGGCTGCCCACCCGCTCGCCTGCCACACCACCTGTTCTCCATTGGGGTCCAGCCCTGCAAAGGAAGTTACAGCCCTGGTGAGTGGGAACAGCTGAACTGCATCATCCTCAACCTCCCTACCCCTGCCCCCGGTCCTGGCTGT... | GTAAGATTTGCCCAGCTCAAAGTGAAAGTGTTTGCGTCTTGGTATCCGGAATCCTCAGCCCCAGTAGCAAAGCTTTAGTCATTCACCTTCATCCAATAGACGTTTGTGAACGTCCTGCTGTCCATTTTGTCAATAAACAGGCAGCCCTGCAGGTGGTCCATCTCGTGCTGGATGATGCGGGCTGCCCACCCGCTCGCCTGCCACACCACCTGTTCTCCATTGGGGTCCAGCCCTGCAAAGGAAGTTACAGCCCTGGTGAGTGGGAACAGCTGAACTGCATCATCCTCAACCTCCCTACCCCTGCCCCCGGTCCTGGCTGT... | pathogenic | 254,781 |
Located at chromosome 16 position 69334537, the variant affecting gene COG8 (component of oligomeric golgi complex 8)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['COG8-congenital_disorder_of_glycosylation'] | TCCAGAAGAGGCAAATCTATGGCAACAGAAAGTAGGTTGCCAGGGACTAAGGATGCTGTCGAGGAATGACTACAAACGTGCATGAAGGATCTTTTTGGAGTGATGGAAATATTCTAAAATTGGATTCATATTTACTAAAAAACACTGACTTACACAAATGGATGAATTATTTAGTATGTGAATTACACATCAGTAAGGCAGTTTACAGAATTTTCATTCTCTTACCTAAAGTCTGTGCTATCTGAGCTGGTGGAAAAAGGACTTGGAGACAGCGATTTAAATACGGAACAAGGTCTTCCAGGAAGACAGTGCAGAACTGG... | TCCAGAAGAGGCAAATCTATGGCAACAGAAAGTAGGTTGCCAGGGACTAAGGATGCTGTCGAGGAATGACTACAAACGTGCATGAAGGATCTTTTTGGAGTGATGGAAATATTCTAAAATTGGATTCATATTTACTAAAAAACACTGACTTACACAAATGGATGAATTATTTAGTATGTGAATTACACATCAGTAAGGCAGTTTACAGAATTTTCATTCTCTTACCTAAAGTCTGTGCTATCTGAGCTGGTGGAAAAAGGACTTGGAGACAGCGATTTAAATACGGAACAAGGTCTTCCAGGAAGACAGTGCAGAACTGG... | pathogenic | 254,788 |
The chromosome 16, position 69670219 genetic variant in gene NFAT5 (nuclear factor of activated T cells 5): benign or pathogenic? If pathogenic, indicate disease(s). | benign | TTGGCCAGGCTGACCAACTTGAACTCCTGACCTCCTCGAACTCCTGACCTCAGGTGATCTGCCCCTCTCGGTCTCCCAAAGTATTGGGATTACAGGCGTGAGCCACCTCACCCGGCCAGTGTATTTGTTTATACATTAACAATTTCTATTAAACTCCCCAGCATTGTTGAAAATGTCATTTATCATATACAAACAGGTTAAATATCTCTTATCTTAAATGCTTAGGACCCGAAGTGTTTCAGGTTTTGAATTTCTTTGGACTTTGAATTTCTTTGCATATACATAATGAGGTTTCATGGGAATGGTACCCAAGTGTAAAC... | TTGGCCAGGCTGACCAACTTGAACTCCTGACCTCCTCGAACTCCTGACCTCAGGTGATCTGCCCCTCTCGGTCTCCCAAAGTATTGGGATTACAGGCGTGAGCCACCTCACCCGGCCAGTGTATTTGTTTATACATTAACAATTTCTATTAAACTCCCCAGCATTGTTGAAAATGTCATTTATCATATACAAACAGGTTAAATATCTCTTATCTTAAATGCTTAGGACCCGAAGTGTTTCAGGTTTTGAATTTCTTTGGACTTTGAATTTCTTTGCATATACATAATGAGGTTTCATGGGAATGGTACCCAAGTGTAAAC... | benign | 254,810 |
Does the genetic variant at chromosome 16, position 69670301, impacting gene NFAT5 (nuclear factor of activated T cells 5), appear benign or pathogenic? If pathogenic, name the associated disease(s). | benign | ATTGGGATTACAGGCGTGAGCCACCTCACCCGGCCAGTGTATTTGTTTATACATTAACAATTTCTATTAAACTCCCCAGCATTGTTGAAAATGTCATTTATCATATACAAACAGGTTAAATATCTCTTATCTTAAATGCTTAGGACCCGAAGTGTTTCAGGTTTTGAATTTCTTTGGACTTTGAATTTCTTTGCATATACATAATGAGGTTTCATGGGAATGGTACCCAAGTGTAAACACAGAATTCATTTGTGTTTCATGTACAGCTATACACATAGCTTGAAGGTAATTTTACATAATATTTTAAATAATTTTGTGCA... | ATTGGGATTACAGGCGTGAGCCACCTCACCCGGCCAGTGTATTTGTTTATACATTAACAATTTCTATTAAACTCCCCAGCATTGTTGAAAATGTCATTTATCATATACAAACAGGTTAAATATCTCTTATCTTAAATGCTTAGGACCCGAAGTGTTTCAGGTTTTGAATTTCTTTGGACTTTGAATTTCTTTGCATATACATAATGAGGTTTCATGGGAATGGTACCCAAGTGTAAACACAGAATTCATTTGTGTTTCATGTACAGCTATACACATAGCTTGAAGGTAATTTTACATAATATTTTAAATAATTTTGTGCA... | benign | 254,811 |
Is the variant located on chromosome 16 at position 69693665, gene NFAT5 (nuclear factor of activated T cells 5), benign or pathogenic? If pathogenic, specify the disease(s) linked. | benign | TCTAAATGATAATAATATAGAGTGGAAAGCTGGTCCTGCATATATTTTTAGAGCAATAGTGATTTTTGATGTATGTTACAAACTTGTTTAATGTTTATATATTCATAATATTTGGGGATTTTTATTTTTTAGACTACAAAGTCTGTTGGATCAACTCAGCAAACATTAGAAAACATCTCAAACATAGCAGGAAATGGCTCTTTTTCATCACCATCATCTTCCCACCTACCTTCTGAAAATGAAAAACAGCAGCAGATTCAGCCCAAGGCATACAACCCAGAGACCCTGACAACTATTCAAACCCAGGACATCTCACAGCC... | TCTAAATGATAATAATATAGAGTGGAAAGCTGGTCCTGCATATATTTTTAGAGCAATAGTGATTTTTGATGTATGTTACAAACTTGTTTAATGTTTATATATTCATAATATTTGGGGATTTTTATTTTTTAGACTACAAAGTCTGTTGGATCAACTCAGCAAACATTAGAAAACATCTCAAACATAGCAGGAAATGGCTCTTTTTCATCACCATCATCTTCCCACCTACCTTCTGAAAATGAAAAACAGCAGCAGATTCAGCCCAAGGCATACAACCCAGAGACCCTGACAACTATTCAAACCCAGGACATCTCACAGCC... | benign | 254,819 |
Is the genetic variant on chromosome 16, position 70258895, gene AARS1 (alanyl-tRNA synthetase 1), benign or pathogenic? If pathogenic, what disease(s) is indicated? | benign | GCTCACACCTGTAATCTCAGCACTTTGGGAGGCTGAGGCGGGTGGGTCACCTGAGATCAGGAGTTCAAGACCAGCCTGACCAACGTGGAGAAACCCCCTCTCTACTAAAAATACAAAATTAGGCCAGGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGTGGCTCACGAGGTCAGAAGATGGAGACCATCCTGGCTAACAGGGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCTGGGCGTGGTGGTGTGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGACTCGCT... | GCTCACACCTGTAATCTCAGCACTTTGGGAGGCTGAGGCGGGTGGGTCACCTGAGATCAGGAGTTCAAGACCAGCCTGACCAACGTGGAGAAACCCCCTCTCTACTAAAAATACAAAATTAGGCCAGGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGTGGCTCACGAGGTCAGAAGATGGAGACCATCCTGGCTAACAGGGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCTGGGCGTGGTGGTGTGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGACTCGCT... | benign | 254,870 |
A mutation at chromosome position 70276967 on chromosome 16 in gene AARS1 (alanyl-tRNA synthetase 1): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Charcot-Marie-Tooth_disease_type_2'] | TAAAACTATATAAAGTAAAAAAAAAAAGACTTGTTTTGGCTTTCAACAACAGAATGATTGGCTGGGCACAGTGGCTCACATCTGTAATCCTAGCACTTTGGGAGGCCAAAGCGGGTGGATCACCTGAAGTCAGGAGTTTGAGACTAGCCTGGCTAACATGGTGAAATCCCATCTCTACTAAAAATACAAAAATTAGCCAGGTGTGGTGGCGCGCACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGAAGAATCGCCTTAACCCGGGAGGCAGAGGTTACAGTGAGCCAAGATCGCACCAGTGCACTCCAGCCTAGGT... | TAAAACTATATAAAGTAAAAAAAAAAAGACTTGTTTTGGCTTTCAACAACAGAATGATTGGCTGGGCACAGTGGCTCACATCTGTAATCCTAGCACTTTGGGAGGCCAAAGCGGGTGGATCACCTGAAGTCAGGAGTTTGAGACTAGCCTGGCTAACATGGTGAAATCCCATCTCTACTAAAAATACAAAAATTAGCCAGGTGTGGTGGCGCGCACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGAAGAATCGCCTTAACCCGGGAGGCAGAGGTTACAGTGAGCCAAGATCGCACCAGTGCACTCCAGCCTAGGT... | pathogenic | 254,941 |
Clinical impact (benign or pathogenic) of the variant at chromosome 16, location 70282794, gene AARS1 (alanyl-tRNA synthetase 1): what disease(s) if pathogenic? | benign | AACTCCTTTATAAACTTGTCATGCTTTCATCATTTTAAGAGTTAACCCTTTTCTCTCACGATAAACCTTTCAAATGTCTTTTTCTTTTCTTTCCTTTTTTGAGACAGGGTCTCACTCTGTTGTGCAGGCTGAAGTGCAGTGGTATGATCAGGGATCACCATAGCCTTGACCTCCCAGGCTCAAGCAATCGTCCCGCCTCAGCCTCCCCAGAAGCTGGGACTACAGGCATGCACCACCACACCTGGCTAATTTTTTGTATTTTTAATAAGAGACAGGGTTTCACCATGTTGCCTAGGCTGGTCTCGAACTTCTGGATTCAA... | AACTCCTTTATAAACTTGTCATGCTTTCATCATTTTAAGAGTTAACCCTTTTCTCTCACGATAAACCTTTCAAATGTCTTTTTCTTTTCTTTCCTTTTTTGAGACAGGGTCTCACTCTGTTGTGCAGGCTGAAGTGCAGTGGTATGATCAGGGATCACCATAGCCTTGACCTCCCAGGCTCAAGCAATCGTCCCGCCTCAGCCTCCCCAGAAGCTGGGACTACAGGCATGCACCACCACACCTGGCTAATTTTTTGTATTTTTAATAAGAGACAGGGTTTCACCATGTTGCCTAGGCTGGTCTCGAACTTCTGGATTCAA... | benign | 254,950 |
Regarding the variant at chromosome 16 and position 70470350, affecting gene FCSK (fucose kinase): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Congenital_disorder_of_glycosylation_with_defective_fucosylation_2'] | CCCAACTACTTGAGAGGTAGAGGCTCGAGAATCGCTTGAACCCAGGAGGCGGAGGTTGCGGTGAGCAGAGATCGTGCCACTGCACTTCAGCCAGGGTGACAGAGCGAGACTCTGAATCAATCCCCTGCCCGCTGTAAAACAAAACAAAGCAAACCTCAAAAACTCAAACGAAAAAAGAAAGCCTAGAACCAGAATGTGAGCAAGTTAGGGAGTGCGGTTGGGAGGAGGCCTAGAGCCAGACTCCGGGAATGCTTCCATCATGAGGGGCAAGGATTGGAGAGGCATGGAGATCTGGGAGTGGACCATGGCGAGGGTGGAGA... | CCCAACTACTTGAGAGGTAGAGGCTCGAGAATCGCTTGAACCCAGGAGGCGGAGGTTGCGGTGAGCAGAGATCGTGCCACTGCACTTCAGCCAGGGTGACAGAGCGAGACTCTGAATCAATCCCCTGCCCGCTGTAAAACAAAACAAAGCAAACCTCAAAAACTCAAACGAAAAAAGAAAGCCTAGAACCAGAATGTGAGCAAGTTAGGGAGTGCGGTTGGGAGGAGGCCTAGAGCCAGACTCCGGGAATGCTTCCATCATGAGGGGCAAGGATTGGAGAGGCATGGAGATCTGGGAGTGGACCATGGCGAGGGTGGAGA... | pathogenic | 254,965 |
Clinical impact (benign or pathogenic) of the variant at chromosome 16, location 70490384, gene COG4 (component of oligomeric golgi complex 4): what disease(s) if pathogenic? | pathogenic; ['COG4-related_disorder'] | CTTGGCCAGGCTTGAATGCCTGATCTTGTGATCCACCTGCCTTGGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCACTGCGCCCAGCCTATTATTGCTTTTTAAGTGATGGGGTCTCATTATGTTGCCCAGGCTGGCCTCGAACTCCTGGCCTCAAGCAATCCTCCTGACTCAGGGTCCCAAGTAGCTGAGACTACAGGCACGAGCCACCCAGCTATTGTTATTTTGAGATGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAGTGACGCAATCTCGGCTCACTGCAACCTCCACCTCCGGGGTTCAAACAATTC... | CTTGGCCAGGCTTGAATGCCTGATCTTGTGATCCACCTGCCTTGGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCACTGCGCCCAGCCTATTATTGCTTTTTAAGTGATGGGGTCTCATTATGTTGCCCAGGCTGGCCTCGAACTCCTGGCCTCAAGCAATCCTCCTGACTCAGGGTCCCAAGTAGCTGAGACTACAGGCACGAGCCACCCAGCTATTGTTATTTTGAGATGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAGTGACGCAATCTCGGCTCACTGCAACCTCCACCTCCGGGGTTCAAACAATTC... | pathogenic | 255,002 |
Gene TAT variant at chromosome 16, position 71569931—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Tyrosinemia_type_II'] | AAATCTTACGAGAGGGAGGCAGATTAATGAATTAGTGAGTCACTCTAGCAGCGCAGAGCAAGGGAGAATCTGCGATGTGAATGAGGAGGATCTGAGTGTGGGTGTGGTTGTACTTGGGGAAAAGCAGGAACAATCTTGAACCCTTGACATGGTGCATTTGAGGCCCCTCTCCCAGTAGGGCCACCTGAGTCCCTGAGGAGCCGCAAGGCCTAGTCCAGCCTTCCCTAGATGGGACACATCCTCAGGAGAATGGATGCAGGCCTATTTATCACACTCCTCCTGGCTGCCTTCAGCACAATGGTAGTGCTGCTCACAGAACT... | AAATCTTACGAGAGGGAGGCAGATTAATGAATTAGTGAGTCACTCTAGCAGCGCAGAGCAAGGGAGAATCTGCGATGTGAATGAGGAGGATCTGAGTGTGGGTGTGGTTGTACTTGGGGAAAAGCAGGAACAATCTTGAACCCTTGACATGGTGCATTTGAGGCCCCTCTCCCAGTAGGGCCACCTGAGTCCCTGAGGAGCCGCAAGGCCTAGTCCAGCCTTCCCTAGATGGGACACATCCTCAGGAGAATGGATGCAGGCCTATTTATCACACTCCTCCTGGCTGCCTTCAGCACAATGGTAGTGCTGCTCACAGAACT... | pathogenic | 255,121 |
Clinically, how would you classify the variant at chromosome 16, position 71570765, gene TAT: benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Tyrosinemia_type_II'] | TGGGAGGCAGTGGACAGACTGCTCAGCAACTAACCGCTCCGTGAACTCCACATCGTTCTCAAATTCTGGGAAATGTTCCATCTCAATTCCAACCTATACCAACAGGAGGGAGAGGCCAACTTATCAGAAGGAGGGAGAACAGGCCAATTTCCTGTGCCAGAAATTAAGGTAGGGGCTACTTTAAAAGATATCTTGGAACTGTGCTACTGATCACTGATAAATAAGAGGGCTAATATTTATGGAATTTTTCTCAGGGAAGACAGGATATATTTTTATTAATAAATATTAAAGAGTTCCTTCCCTGATGCTGATAAATAAAA... | TGGGAGGCAGTGGACAGACTGCTCAGCAACTAACCGCTCCGTGAACTCCACATCGTTCTCAAATTCTGGGAAATGTTCCATCTCAATTCCAACCTATACCAACAGGAGGGAGAGGCCAACTTATCAGAAGGAGGGAGAACAGGCCAATTTCCTGTGCCAGAAATTAAGGTAGGGGCTACTTTAAAAGATATCTTGGAACTGTGCTACTGATCACTGATAAATAAGAGGGCTAATATTTATGGAATTTTTCTCAGGGAAGACAGGATATATTTTTATTAATAAATATTAAAGAGTTCCTTCCCTGATGCTGATAAATAAAA... | pathogenic | 255,129 |
Located at chromosome 16 position 71570776, the variant affecting gene TAT—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Tyrosinemia_type_II'] | GGACAGACTGCTCAGCAACTAACCGCTCCGTGAACTCCACATCGTTCTCAAATTCTGGGAAATGTTCCATCTCAATTCCAACCTATACCAACAGGAGGGAGAGGCCAACTTATCAGAAGGAGGGAGAACAGGCCAATTTCCTGTGCCAGAAATTAAGGTAGGGGCTACTTTAAAAGATATCTTGGAACTGTGCTACTGATCACTGATAAATAAGAGGGCTAATATTTATGGAATTTTTCTCAGGGAAGACAGGATATATTTTTATTAATAAATATTAAAGAGTTCCTTCCCTGATGCTGATAAATAAAAGCTGGAAATAG... | GGACAGACTGCTCAGCAACTAACCGCTCCGTGAACTCCACATCGTTCTCAAATTCTGGGAAATGTTCCATCTCAATTCCAACCTATACCAACAGGAGGGAGAGGCCAACTTATCAGAAGGAGGGAGAACAGGCCAATTTCCTGTGCCAGAAATTAAGGTAGGGGCTACTTTAAAAGATATCTTGGAACTGTGCTACTGATCACTGATAAATAAGAGGGCTAATATTTATGGAATTTTTCTCAGGGAAGACAGGATATATTTTTATTAATAAATATTAAAGAGTTCCTTCCCTGATGCTGATAAATAAAAGCTGGAAATAG... | pathogenic | 255,130 |
Does the variant impacting TAT on chromosome 16, position 71572199, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Tyrosinemia_type_II'] | ATGCCGTCTCCTAATATTGGAACATGGCTCCAGAAAGGAGAACCAATTATTCCTAATTCCACGGGCGGCATTCTCTGACTCCCAAACTCCCAAAGTGGAGGGCAGGAGCTGCCCTTACCTTGAGGAAGCTCAGAGTGTTGTGGTAAAACTCTCCCGGGGTGCGACATAGGATGCTTTTCAGAGCTCCCTGGACAATGGTACAGGGTCCCAAAATGCGCTGACTCAGCTTCACCAGCCCATCTCGGATCTAAAAGACACCCACAAGAAACATGTTGTTTAGCTTTTCTTAAGCATCTCTGTCTTAGAGTTTCTTGTTCTGA... | ATGCCGTCTCCTAATATTGGAACATGGCTCCAGAAAGGAGAACCAATTATTCCTAATTCCACGGGCGGCATTCTCTGACTCCCAAACTCCCAAAGTGGAGGGCAGGAGCTGCCCTTACCTTGAGGAAGCTCAGAGTGTTGTGGTAAAACTCTCCCGGGGTGCGACATAGGATGCTTTTCAGAGCTCCCTGGACAATGGTACAGGGTCCCAAAATGCGCTGACTCAGCTTCACCAGCCCATCTCGGATCTAAAAGACACCCACAAGAAACATGTTGTTTAGCTTTTCTTAAGCATCTCTGTCTTAGAGTTTCTTGTTCTGA... | pathogenic | 255,133 |
Chromosome 16, position 71575953, gene TAT (tyrosine aminotransferase): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Tyrosinemia_type_II'] | TCCTGGGCTCAGGGGCTCCTCCCACCTCAGCCTCCTGAAAGTGCTGGGATTACAGGGGTGAGCCACTGTGCCTGGCAAGAAGATGAAGTTTTCATCCCTCAACTGACAGCTATGCCCTGGAGGCCCAGCATGGGCTTCAGGCTGCCTCTGCCCCTGCTCAGAGGGCATTCTATTTAGTTCAGCTCTCAGCCATTGTGGATAAAGGAGATTCACTTCACATTTTATGTTTTACAATTTTAGTATAAGCACGAATGTATAAATGATAACAAGGAAGAGCTCCCCAAATACTCTGCACCATCTTGATTTCTGTGATTATATTT... | TCCTGGGCTCAGGGGCTCCTCCCACCTCAGCCTCCTGAAAGTGCTGGGATTACAGGGGTGAGCCACTGTGCCTGGCAAGAAGATGAAGTTTTCATCCCTCAACTGACAGCTATGCCCTGGAGGCCCAGCATGGGCTTCAGGCTGCCTCTGCCCCTGCTCAGAGGGCATTCTATTTAGTTCAGCTCTCAGCCATTGTGGATAAAGGAGATTCACTTCACATTTTATGTTTTACAATTTTAGTATAAGCACGAATGTATAAATGATAACAAGGAAGAGCTCCCCAAATACTCTGCACCATCTTGATTTCTGTGATTATATTT... | pathogenic | 255,141 |
Does the genetic variant at chromosome 16, position 71576189, impacting gene TAT (tyrosine aminotransferase), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Tyrosinemia_type_II'] | TTAGTATAAGCACGAATGTATAAATGATAACAAGGAAGAGCTCCCCAAATACTCTGCACCATCTTGATTTCTGTGATTATATTTTATTCTGTGTAATACAAGGATTTCTATTATTCCCAAATCTTTTTTAGGGACTGTATTTTTTAAGAAGTTGTAATCGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCACCTGAGGTCGGGAGATTGAGACCAGTCTGACCAACATGGAGAAATCTCATCTCTACTAAAAATACAAAAATTAGCTGGGCATTGTGGCGCGTGCCTGTA... | TTAGTATAAGCACGAATGTATAAATGATAACAAGGAAGAGCTCCCCAAATACTCTGCACCATCTTGATTTCTGTGATTATATTTTATTCTGTGTAATACAAGGATTTCTATTATTCCCAAATCTTTTTTAGGGACTGTATTTTTTAAGAAGTTGTAATCGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCACCTGAGGTCGGGAGATTGAGACCAGTCTGACCAACATGGAGAAATCTCATCTCTACTAAAAATACAAAAATTAGCTGGGCATTGTGGCGCGTGCCTGTA... | pathogenic | 255,142 |
Does the chromosome 16 mutation at position 71576238 within gene TAT (tyrosine aminotransferase) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Tyrosinemia_type_II'] | TACTCTGCACCATCTTGATTTCTGTGATTATATTTTATTCTGTGTAATACAAGGATTTCTATTATTCCCAAATCTTTTTTAGGGACTGTATTTTTTAAGAAGTTGTAATCGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCACCTGAGGTCGGGAGATTGAGACCAGTCTGACCAACATGGAGAAATCTCATCTCTACTAAAAATACAAAAATTAGCTGGGCATTGTGGCGCGTGCCTGTAATCCGAGCTACTCAGGAGGCTGAGACAGGAGAATCACTTGAACCCGGGA... | TACTCTGCACCATCTTGATTTCTGTGATTATATTTTATTCTGTGTAATACAAGGATTTCTATTATTCCCAAATCTTTTTTAGGGACTGTATTTTTTAAGAAGTTGTAATCGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCACCTGAGGTCGGGAGATTGAGACCAGTCTGACCAACATGGAGAAATCTCATCTCTACTAAAAATACAAAAATTAGCTGGGCATTGTGGCGCGTGCCTGTAATCCGAGCTACTCAGGAGGCTGAGACAGGAGAATCACTTGAACCCGGGA... | pathogenic | 255,144 |
Is the genetic variant on chromosome 16, position 72787701, gene ZFHX3, benign or pathogenic? If pathogenic, what disease(s) is indicated? | benign | GAAAGAAAAAACAAACACAAAACCAAAAACCAAATCCCTAACCAAAAACTTTTTTTAGAAAAGAAAAGTACACAGCCAATTACACAAATGGAAACAAATCCTTTAGTATAGAAAAAAAAAGAATATTTGAAGCTCCTACCAAACAAGGAGGAAAAGAAGGGGTACAAAGAAAAAAAAGCCAAAAGAAGGATAAATAAAAAATAAATGCACAAAGCTAACAGACACAGGTAACTAGAATTATATGCCTTTAAAAAGTTTCAACTCCCCAACCAAAAATAATCTGTGAGGATCCTAATGACCCCTAGAATCCCTTGAAATTC... | GAAAGAAAAAACAAACACAAAACCAAAAACCAAATCCCTAACCAAAAACTTTTTTTAGAAAAGAAAAGTACACAGCCAATTACACAAATGGAAACAAATCCTTTAGTATAGAAAAAAAAAGAATATTTGAAGCTCCTACCAAACAAGGAGGAAAAGAAGGGGTACAAAGAAAAAAAAGCCAAAAGAAGGATAAATAAAAAATAAATGCACAAAGCTAACAGACACAGGTAACTAGAATTATATGCCTTTAAAAAGTTTCAACTCCCCAACCAAAAATAATCTGTGAGGATCCTAATGACCCCTAGAATCCCTTGAAATTC... | benign | 255,251 |
Mutation at chromosome 16, position 74716440, within FA2H (fatty acid 2-hydroxylase): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Hereditary_spastic_paraplegia_35', 'Spastic_paraplegia'] | TTCCCAACTCCCGAGGCCATTCTGGCAGAAGTCAAGGGTGGGGAACCTGTGTCTTTTATTGTCCCCAGCATGAAGCTGGAATAAACCCTAATTCCTTATCTGGCCTTCGTTTCTAGGCTACGTGGCCCCCTCCCACCCCCCACCTCCATCTCCTTCCCCTTCCTTGGGGCCCAAGTTCATTCCTGCCTCAGGGCTTTGCACCAGTCGCTCTTGGGACGCCAGATGCTGATTTCTCTTCATTAGGGTCTTAGCTCTAATGGCACCTCTGCAATGACACCTGGACCATTTAATCTCTTTGCTGTCCAACTAGCCCTTAGCCA... | TTCCCAACTCCCGAGGCCATTCTGGCAGAAGTCAAGGGTGGGGAACCTGTGTCTTTTATTGTCCCCAGCATGAAGCTGGAATAAACCCTAATTCCTTATCTGGCCTTCGTTTCTAGGCTACGTGGCCCCCTCCCACCCCCCACCTCCATCTCCTTCCCCTTCCTTGGGGCCCAAGTTCATTCCTGCCTCAGGGCTTTGCACCAGTCGCTCTTGGGACGCCAGATGCTGATTTCTCTTCATTAGGGTCTTAGCTCTAATGGCACCTCTGCAATGACACCTGGACCATTTAATCTCTTTGCTGTCCAACTAGCCCTTAGCCA... | pathogenic | 255,298 |
Variant chromosome 16, position 74716563, gene FA2H (fatty acid 2-hydroxylase): benign or pathogenic? Disease(s)? | pathogenic; ['Hereditary_spastic_paraplegia_35'] | GGCCCCCTCCCACCCCCCACCTCCATCTCCTTCCCCTTCCTTGGGGCCCAAGTTCATTCCTGCCTCAGGGCTTTGCACCAGTCGCTCTTGGGACGCCAGATGCTGATTTCTCTTCATTAGGGTCTTAGCTCTAATGGCACCTCTGCAATGACACCTGGACCATTTAATCTCTTTGCTGTCCAACTAGCCCTTAGCCACACATGGCTACTGAGCACTAGAAATGTGGCTAGAGCTCCAGAGAAACTGAATTTCTAACTTCATTTAATTCTGATGAATTAACATGTCAATGTAAAAACTGATGCTTGATTGAGTTACTGGAA... | GGCCCCCTCCCACCCCCCACCTCCATCTCCTTCCCCTTCCTTGGGGCCCAAGTTCATTCCTGCCTCAGGGCTTTGCACCAGTCGCTCTTGGGACGCCAGATGCTGATTTCTCTTCATTAGGGTCTTAGCTCTAATGGCACCTCTGCAATGACACCTGGACCATTTAATCTCTTTGCTGTCCAACTAGCCCTTAGCCACACATGGCTACTGAGCACTAGAAATGTGGCTAGAGCTCCAGAGAAACTGAATTTCTAACTTCATTTAATTCTGATGAATTAACATGTCAATGTAAAAACTGATGCTTGATTGAGTTACTGGAA... | pathogenic | 255,305 |
Chromosome 16, position 74726326, gene FA2H (fatty acid 2-hydroxylase): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Hereditary_spastic_paraplegia_35', 'Spastic_paraplegia'] | CCGGGCCCCGCACACCACCCCACTGGAAGCCTGCCTCCCCTCCTCTCAGGGATGCCACTCGCTCTAACGTGCTCTCAGAAGCTGCTCTGGAGCCATCCTGAGTATGCAGCGCCGCCCCCTTTCCCCCGTCTCCTCAGCTTTTGAAAGCATTTTCATGTGCGCATCTAGGAATGTCAGCCTTGAACTGGTGTCTGCGTTCAGCTTCCACTGCTTCTTGGCACCCTGACTCTTCTGTATTGATTCCAGTGCGTCCTTTGTCCAGCAGCTGCACTAGGATCCCGCCGAGTCTCCCCTTGCCTTGCTTTGTGGGCTCTTATTTT... | CCGGGCCCCGCACACCACCCCACTGGAAGCCTGCCTCCCCTCCTCTCAGGGATGCCACTCGCTCTAACGTGCTCTCAGAAGCTGCTCTGGAGCCATCCTGAGTATGCAGCGCCGCCCCCTTTCCCCCGTCTCCTCAGCTTTTGAAAGCATTTTCATGTGCGCATCTAGGAATGTCAGCCTTGAACTGGTGTCTGCGTTCAGCTTCCACTGCTTCTTGGCACCCTGACTCTTCTGTATTGATTCCAGTGCGTCCTTTGTCCAGCAGCTGCACTAGGATCCCGCCGAGTCTCCCCTTGCCTTGCTTTGTGGGCTCTTATTTT... | pathogenic | 255,324 |
A genetic variant on chromosome 16, position 74726394, affects the gene FA2H (fatty acid 2-hydroxylase). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | benign | GTGCTCTCAGAAGCTGCTCTGGAGCCATCCTGAGTATGCAGCGCCGCCCCCTTTCCCCCGTCTCCTCAGCTTTTGAAAGCATTTTCATGTGCGCATCTAGGAATGTCAGCCTTGAACTGGTGTCTGCGTTCAGCTTCCACTGCTTCTTGGCACCCTGACTCTTCTGTATTGATTCCAGTGCGTCCTTTGTCCAGCAGCTGCACTAGGATCCCGCCGAGTCTCCCCTTGCCTTGCTTTGTGGGCTCTTATTTTCTCTGCCTGTGGCTTGTGCCTTGCATGACAAGCTGGGGGCTGAGGGAGGCACGTGGAGACGTTATCTC... | GTGCTCTCAGAAGCTGCTCTGGAGCCATCCTGAGTATGCAGCGCCGCCCCCTTTCCCCCGTCTCCTCAGCTTTTGAAAGCATTTTCATGTGCGCATCTAGGAATGTCAGCCTTGAACTGGTGTCTGCGTTCAGCTTCCACTGCTTCTTGGCACCCTGACTCTTCTGTATTGATTCCAGTGCGTCCTTTGTCCAGCAGCTGCACTAGGATCCCGCCGAGTCTCCCCTTGCCTTGCTTTGTGGGCTCTTATTTTCTCTGCCTGTGGCTTGTGCCTTGCATGACAAGCTGGGGGCTGAGGGAGGCACGTGGAGACGTTATCTC... | benign | 255,325 |
Gene mutation in FA2H (fatty acid 2-hydroxylase) at chromosome 16, position 74740014—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Hereditary_spastic_paraplegia_35', 'Spastic_paraplegia'] | AGCAGCAGCACCCTTTTTTGGAAAGTCAAAAGTGAAAAGAAAAGAAAAAAGCAGAAAAGCACCCTCTGCCCTCCTGGGAAGCCCTGCTCCCTGTGCTGATTTTCTGGGGCGCTGAAGGGGTTCCCATGCACACCCGGGCAGGTGGGGGCTCCGTCCAGAGTAGGCCTCCACATCCTCCCAGGGCCCAGCCCTCGCCCTTCCGTCTCAGCCCAGAGACACAGGAGGAAGGGGAGGAAGAGTGAGTGTGTAGAGAGAGAATGAGAGAGAGGTGGGGAAGGTGAGTCAGGCTGCTTGGACAGCTGGCCCGGAGCCAGGCAGGG... | AGCAGCAGCACCCTTTTTTGGAAAGTCAAAAGTGAAAAGAAAAGAAAAAAGCAGAAAAGCACCCTCTGCCCTCCTGGGAAGCCCTGCTCCCTGTGCTGATTTTCTGGGGCGCTGAAGGGGTTCCCATGCACACCCGGGCAGGTGGGGGCTCCGTCCAGAGTAGGCCTCCACATCCTCCCAGGGCCCAGCCCTCGCCCTTCCGTCTCAGCCCAGAGACACAGGAGGAAGGGGAGGAAGAGTGAGTGTGTAGAGAGAGAATGAGAGAGAGGTGGGGAAGGTGAGTCAGGCTGCTTGGACAGCTGGCCCGGAGCCAGGCAGGG... | pathogenic | 255,331 |
Determine whether the variant at chromosome 16, position 74774579, in gene FA2H is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Hereditary_spastic_paraplegia_35', 'Spastic_paraplegia'] | GTTCCATGACTGAATAAATGATGGAGAAATTAGGCAGGATGACCCAATGAAAAGCCACCTGAAACAGTGGGTGCTAAGTCCTTTCAACCAAAGATCTAAGAGTAGTTGCTGGGCTCATCTTGAAAGCAAGAGTTAGAAGCAGGGGACAATTGTTGGTTTTCAGGAGTCCCCCTTATCCACGGTTTCACTTTCCATGGTTTCAGTAACCCACGGTCAACCTGGGTCCAAAAACATAATTAAATGGAAAATTCCAGAAATAATTTATAAGTTTTAAATTACTTTTCAATAGTAGCCAATGCCACATCACCACACCTGTCATT... | GTTCCATGACTGAATAAATGATGGAGAAATTAGGCAGGATGACCCAATGAAAAGCCACCTGAAACAGTGGGTGCTAAGTCCTTTCAACCAAAGATCTAAGAGTAGTTGCTGGGCTCATCTTGAAAGCAAGAGTTAGAAGCAGGGGACAATTGTTGGTTTTCAGGAGTCCCCCTTATCCACGGTTTCACTTTCCATGGTTTCAGTAACCCACGGTCAACCTGGGTCCAAAAACATAATTAAATGGAAAATTCCAGAAATAATTTATAAGTTTTAAATTACTTTTCAATAGTAGCCAATGCCACATCACCACACCTGTCATT... | pathogenic | 255,335 |
Does the variant impacting CHST6 (carbohydrate sulfotransferase 6) on chromosome 16, position 75478398, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | benign | GAGACCAACCTGGCCAATATGGTGAAACCCAGTGTCTACAAAAATACAAAAATTAGCTGGGCATGGTGGTGCATCCCTGTAGTCCCAGCTCCTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGCAGAGAGAGGCAGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCTGGGCGACAGAGCCAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAATGGCCCTGGAGAGCTGTCTCCCATCTTCTACGATAAGAGGACACAGCTAGAAGGCACTGTCTTTGAAAAAGTGGGCCCTCATCA... | GAGACCAACCTGGCCAATATGGTGAAACCCAGTGTCTACAAAAATACAAAAATTAGCTGGGCATGGTGGTGCATCCCTGTAGTCCCAGCTCCTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGCAGAGAGAGGCAGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCTGGGCGACAGAGCCAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAATGGCCCTGGAGAGCTGTCTCCCATCTTCTACGATAAGAGGACACAGCTAGAAGGCACTGTCTTTGAAAAAGTGGGCCCTCATCA... | benign | 255,376 |
Benign or pathogenic: chromosome 16, position 75478981, gene CHST6 (carbohydrate sulfotransferase 6) variant? Disease(s) if pathogenic? | pathogenic; ['Macular_corneal_dystrophy'] | GGGGCTTCGCCATGTTGGCCAGGCTGTTCTTGAATGCCTGACCTCAGGTGATTCATCCCCCTCGGCCTCCCACAGTGCTGGGATTACAGGCATGAGCCACTGCATCCAGCCAAGTTACCCACTCTTAAGGTATTTTGTTATAACCACCTGAACAAGAACAAAGACATTCTCTAAGCCATGTAGTACACATTCATAAATCTGGGGTTTTAAATACCTTCCTCCTATAATTGTCACGAGGGACAGATTCAAGTTTCATTTGGTTGAAGCTTCTAAACCTGGAAGGAACCTAAAATGAGCTTCAGCTTCAAGGCTAATGTGCC... | GGGGCTTCGCCATGTTGGCCAGGCTGTTCTTGAATGCCTGACCTCAGGTGATTCATCCCCCTCGGCCTCCCACAGTGCTGGGATTACAGGCATGAGCCACTGCATCCAGCCAAGTTACCCACTCTTAAGGTATTTTGTTATAACCACCTGAACAAGAACAAAGACATTCTCTAAGCCATGTAGTACACATTCATAAATCTGGGGTTTTAAATACCTTCCTCCTATAATTGTCACGAGGGACAGATTCAAGTTTCATTTGGTTGAAGCTTCTAAACCTGGAAGGAACCTAAAATGAGCTTCAGCTTCAAGGCTAATGTGCC... | pathogenic | 255,378 |
Does the variant on chromosome 16 at location 75479023 affecting gene CHST6 (carbohydrate sulfotransferase 6) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Macular_corneal_dystrophy'] | CTCAGGTGATTCATCCCCCTCGGCCTCCCACAGTGCTGGGATTACAGGCATGAGCCACTGCATCCAGCCAAGTTACCCACTCTTAAGGTATTTTGTTATAACCACCTGAACAAGAACAAAGACATTCTCTAAGCCATGTAGTACACATTCATAAATCTGGGGTTTTAAATACCTTCCTCCTATAATTGTCACGAGGGACAGATTCAAGTTTCATTTGGTTGAAGCTTCTAAACCTGGAAGGAACCTAAAATGAGCTTCAGCTTCAAGGCTAATGTGCCTGTTCTCCCTCCACGTAAAGCAGAAAATGCCAGATCTCCCTT... | CTCAGGTGATTCATCCCCCTCGGCCTCCCACAGTGCTGGGATTACAGGCATGAGCCACTGCATCCAGCCAAGTTACCCACTCTTAAGGTATTTTGTTATAACCACCTGAACAAGAACAAAGACATTCTCTAAGCCATGTAGTACACATTCATAAATCTGGGGTTTTAAATACCTTCCTCCTATAATTGTCACGAGGGACAGATTCAAGTTTCATTTGGTTGAAGCTTCTAAACCTGGAAGGAACCTAAAATGAGCTTCAGCTTCAAGGCTAATGTGCCTGTTCTCCCTCCACGTAAAGCAGAAAATGCCAGATCTCCCTT... | pathogenic | 255,380 |
A genetic variant on chromosome 16, position 75555828, affects the gene TMEM231 (transmembrane protein 231). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Joubert_syndrome_20', 'Meckel_syndrome,_type_11'] | TCCAAAGTGCTAGGATTACAGGTGTGAGCTATCATTTCTGGCGGCAAATATTTTTATCTCATTTACCTGATCATTTAGAAATGTATCTCCAGGTCTTGAGATAACATTTGCATTGAAAATTCTCAGTTTCTCAGTTTTAGGCATTCTCTATTGAGTTCCCACAAGGAAAGATGATTTAGCTTCTTCTCTCCCCCAATTCCTCCCACCATCCCCTATCACATACCCAATACCTTTCTCATTACCCCCAATAGAGTTAAAATCTCTTTTTAGTAAACATTCAGTGTTCATATAATTAAGACTATGTCAATCCTATTCACAAC... | TCCAAAGTGCTAGGATTACAGGTGTGAGCTATCATTTCTGGCGGCAAATATTTTTATCTCATTTACCTGATCATTTAGAAATGTATCTCCAGGTCTTGAGATAACATTTGCATTGAAAATTCTCAGTTTCTCAGTTTTAGGCATTCTCTATTGAGTTCCCACAAGGAAAGATGATTTAGCTTCTTCTCTCCCCCAATTCCTCCCACCATCCCCTATCACATACCCAATACCTTTCTCATTACCCCCAATAGAGTTAAAATCTCTTTTTAGTAAACATTCAGTGTTCATATAATTAAGACTATGTCAATCCTATTCACAAC... | pathogenic | 255,436 |
A genetic variant on chromosome 16, position 75631329, affects the gene KARS1 (lysyl-tRNA synthetase 1). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | benign | CTCCTCCAGCAAGCCTATGGCTTTATCTTTCACTTCTGAAGTCACCAAGAACGTATACGCTGACACAGATCAGGGTTAAGGCTGGTATTTCCTGGTGAGTTGGCACAGCTTCTGCTCACAGTCCCCTTTCTCACCTTGGCCTGTTCTTCAAAAAGCTGCCGCTGCCGCATGGGATCATTCAGCTCAGTATACGCATTGCATATCTCTTTCTTCATGACAAACAGCTCAAAGCGCTCAGTCAGACCCTCTTTAGAGCGGTGCCTAGGGACAGGAGACCAAAGAGGAGGCTGAATATAGAGGCCCCTAATGAGCTAAATTTT... | CTCCTCCAGCAAGCCTATGGCTTTATCTTTCACTTCTGAAGTCACCAAGAACGTATACGCTGACACAGATCAGGGTTAAGGCTGGTATTTCCTGGTGAGTTGGCACAGCTTCTGCTCACAGTCCCCTTTCTCACCTTGGCCTGTTCTTCAAAAAGCTGCCGCTGCCGCATGGGATCATTCAGCTCAGTATACGCATTGCATATCTCTTTCTTCATGACAAACAGCTCAAAGCGCTCAGTCAGACCCTCTTTAGAGCGGTGCCTAGGGACAGGAGACCAAAGAGGAGGCTGAATATAGAGGCCCCTAATGAGCTAAATTTT... | benign | 255,475 |
Does the genetic variant at chromosome 16, position 75636631, impacting gene KARS1 (lysyl-tRNA synthetase 1), appear benign or pathogenic? If pathogenic, name the associated disease(s). | benign | TAATTTTTTTTAAGACGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGCAGCGCGATCTCGGCTCATGGCAAGCTCCGCCTCCTGGGTTCACACCATTCTCCTGACTCAGACTCCAAAGTAGCTGGGACTACAGGTGCCTGCCACCACGCCTGGCTAATTTTTTGTGTTTTTAGTAGAGACAGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCTGCTCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCGCCCGGCCCAATTCCCAGTATTTATTAAAAATTTAG... | TAATTTTTTTTAAGACGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGCAGCGCGATCTCGGCTCATGGCAAGCTCCGCCTCCTGGGTTCACACCATTCTCCTGACTCAGACTCCAAAGTAGCTGGGACTACAGGTGCCTGCCACCACGCCTGGCTAATTTTTTGTGTTTTTAGTAGAGACAGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCTGCTCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCGCCCGGCCCAATTCCCAGTATTTATTAAAAATTTAG... | benign | 255,495 |
The chromosome 16, position 75640354 genetic variant in gene KARS1 (lysyl-tRNA synthetase 1): benign or pathogenic? If pathogenic, indicate disease(s). | benign | TTGCTGTACCTATCAACCTGTCATCTAGGTTTTAAGCTCTGCATGCATTAGGTATTTGTCCTAACCCTGTCCCTCCCCGGTCCCCCCGCCCCTTGACAGGCCCCAGTGTGTGATGTTCCCCTCCCTGTGTCCATGTGTTCTTATTGTTCAACTCTCACTTATGAGTGAGTACGTGCCGTGAAAAGCAAAAAATTCTAACTTACTATTCAAAAATGAGCTGAAAGACATGAAGAAAAAGACGCAAAACATGAAAGAACACAAATTAGAACTAGAAAAACTAAGAAATGAGGTGATAACACATGAAAGAATTAGAAATAAAG... | TTGCTGTACCTATCAACCTGTCATCTAGGTTTTAAGCTCTGCATGCATTAGGTATTTGTCCTAACCCTGTCCCTCCCCGGTCCCCCCGCCCCTTGACAGGCCCCAGTGTGTGATGTTCCCCTCCCTGTGTCCATGTGTTCTTATTGTTCAACTCTCACTTATGAGTGAGTACGTGCCGTGAAAAGCAAAAAATTCTAACTTACTATTCAAAAATGAGCTGAAAGACATGAAGAAAAAGACGCAAAACATGAAAGAACACAAATTAGAACTAGAAAAACTAAGAAATGAGGTGATAACACATGAAAGAATTAGAAATAAAG... | benign | 255,503 |
The mutation in gene KARS1 (lysyl-tRNA synthetase 1) at chromosome 16, position 75640354—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | benign | TTGCTGTACCTATCAACCTGTCATCTAGGTTTTAAGCTCTGCATGCATTAGGTATTTGTCCTAACCCTGTCCCTCCCCGGTCCCCCCGCCCCTTGACAGGCCCCAGTGTGTGATGTTCCCCTCCCTGTGTCCATGTGTTCTTATTGTTCAACTCTCACTTATGAGTGAGTACGTGCCGTGAAAAGCAAAAAATTCTAACTTACTATTCAAAAATGAGCTGAAAGACATGAAGAAAAAGACGCAAAACATGAAAGAACACAAATTAGAACTAGAAAAACTAAGAAATGAGGTGATAACACATGAAAGAATTAGAAATAAAG... | TTGCTGTACCTATCAACCTGTCATCTAGGTTTTAAGCTCTGCATGCATTAGGTATTTGTCCTAACCCTGTCCCTCCCCGGTCCCCCCGCCCCTTGACAGGCCCCAGTGTGTGATGTTCCCCTCCCTGTGTCCATGTGTTCTTATTGTTCAACTCTCACTTATGAGTGAGTACGTGCCGTGAAAAGCAAAAAATTCTAACTTACTATTCAAAAATGAGCTGAAAGACATGAAGAAAAAGACGCAAAACATGAAAGAACACAAATTAGAACTAGAAAAACTAAGAAATGAGGTGATAACACATGAAAGAATTAGAAATAAAG... | benign | 255,504 |
A mutation at chromosome position 75640354 on chromosome 16 in gene KARS1 (lysyl-tRNA synthetase 1): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | benign | TTGCTGTACCTATCAACCTGTCATCTAGGTTTTAAGCTCTGCATGCATTAGGTATTTGTCCTAACCCTGTCCCTCCCCGGTCCCCCCGCCCCTTGACAGGCCCCAGTGTGTGATGTTCCCCTCCCTGTGTCCATGTGTTCTTATTGTTCAACTCTCACTTATGAGTGAGTACGTGCCGTGAAAAGCAAAAAATTCTAACTTACTATTCAAAAATGAGCTGAAAGACATGAAGAAAAAGACGCAAAACATGAAAGAACACAAATTAGAACTAGAAAAACTAAGAAATGAGGTGATAACACATGAAAGAATTAGAAATAAAG... | TTGCTGTACCTATCAACCTGTCATCTAGGTTTTAAGCTCTGCATGCATTAGGTATTTGTCCTAACCCTGTCCCTCCCCGGTCCCCCCGCCCCTTGACAGGCCCCAGTGTGTGATGTTCCCCTCCCTGTGTCCATGTGTTCTTATTGTTCAACTCTCACTTATGAGTGAGTACGTGCCGTGAAAAGCAAAAAATTCTAACTTACTATTCAAAAATGAGCTGAAAGACATGAAGAAAAAGACGCAAAACATGAAAGAACACAAATTAGAACTAGAAAAACTAAGAAATGAGGTGATAACACATGAAAGAATTAGAAATAAAG... | benign | 255,505 |
Variant on chromosome 16, at position 75640354, affecting KARS1 (lysyl-tRNA synthetase 1): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | benign | TTGCTGTACCTATCAACCTGTCATCTAGGTTTTAAGCTCTGCATGCATTAGGTATTTGTCCTAACCCTGTCCCTCCCCGGTCCCCCCGCCCCTTGACAGGCCCCAGTGTGTGATGTTCCCCTCCCTGTGTCCATGTGTTCTTATTGTTCAACTCTCACTTATGAGTGAGTACGTGCCGTGAAAAGCAAAAAATTCTAACTTACTATTCAAAAATGAGCTGAAAGACATGAAGAAAAAGACGCAAAACATGAAAGAACACAAATTAGAACTAGAAAAACTAAGAAATGAGGTGATAACACATGAAAGAATTAGAAATAAAG... | TTGCTGTACCTATCAACCTGTCATCTAGGTTTTAAGCTCTGCATGCATTAGGTATTTGTCCTAACCCTGTCCCTCCCCGGTCCCCCCGCCCCTTGACAGGCCCCAGTGTGTGATGTTCCCCTCCCTGTGTCCATGTGTTCTTATTGTTCAACTCTCACTTATGAGTGAGTACGTGCCGTGAAAAGCAAAAAATTCTAACTTACTATTCAAAAATGAGCTGAAAGACATGAAGAAAAAGACGCAAAACATGAAAGAACACAAATTAGAACTAGAAAAACTAAGAAATGAGGTGATAACACATGAAAGAATTAGAAATAAAG... | benign | 255,506 |
Clinically, how would you classify the variant at chromosome 16, position 75641660, gene KARS1 (lysyl-tRNA synthetase 1): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['KARS1-related_disorder', 'Leukoencephalopathy,_progressive,_infantile-onset,_with_or_without_deafness'] | CACTTTAAAGAAGAAATCTTTTGGGCATTTAGGTCCTGCCAGAAATTCTCTCTGGGTGGTAGGATTATGCGTAATCAAAACCTTCTCTCTGTGCTTCTTTGACTATTCTAAATTTTCTACAACTGATAGTTTTACTATTTGGTGGGAGAGGGCAAGGAAAAGATGTGATTTTTTTTTTTTGTTTTTTAAATTTAGGAAAAGAAGATCTCACCCAAGATACTACAACTCCAAAAGAGCAATGTTCTAGAAATACTGTCTCAGTGCAAAGCATTCTTAGGCCAAAGACTGGAATTCTTAGAAGCCTGAGACTTCTACCGCTG... | CACTTTAAAGAAGAAATCTTTTGGGCATTTAGGTCCTGCCAGAAATTCTCTCTGGGTGGTAGGATTATGCGTAATCAAAACCTTCTCTCTGTGCTTCTTTGACTATTCTAAATTTTCTACAACTGATAGTTTTACTATTTGGTGGGAGAGGGCAAGGAAAAGATGTGATTTTTTTTTTTTGTTTTTTAAATTTAGGAAAAGAAGATCTCACCCAAGATACTACAACTCCAAAAGAGCAATGTTCTAGAAATACTGTCTCAGTGCAAAGCATTCTTAGGCCAAAGACTGGAATTCTTAGAAGCCTGAGACTTCTACCGCTG... | pathogenic | 255,509 |
A mutation at chromosome position 78099883 on chromosome 16 in gene WWOX (WW domain containing oxidoreductase): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Developmental_and_epileptic_encephalopathy,_28'] | GCCCATTAAAATACATACTTTTAAAATTCCTTATTTTCAATTTTATTTTTTTGCTCTCTCAGAAGAATCAAATATATGTAATTATTCTGATGGAGGCTTGCATTCTTTGGGACCTAGGCCTGAGAAATCACGGTCAGTAGATTTCCCTATAACATGGGGCTGGGGAGCAAGTGCCAAACAGGGAATGTTCTGAAAACTCCTTAGGCACAAGCTGAAGATATGTTTGAGGTTTTGGATACAGAACATTTATAGGATATCTTTTGGTGGTCCAAGAGGACTTGAGTGTACCTTGTAAATACAGGATTTTGTTTTTAATTAGA... | GCCCATTAAAATACATACTTTTAAAATTCCTTATTTTCAATTTTATTTTTTTGCTCTCTCAGAAGAATCAAATATATGTAATTATTCTGATGGAGGCTTGCATTCTTTGGGACCTAGGCCTGAGAAATCACGGTCAGTAGATTTCCCTATAACATGGGGCTGGGGAGCAAGTGCCAAACAGGGAATGTTCTGAAAACTCCTTAGGCACAAGCTGAAGATATGTTTGAGGTTTTGGATACAGAACATTTATAGGATATCTTTTGGTGGTCCAAGAGGACTTGAGTGTACCTTGTAAATACAGGATTTTGTTTTTAATTAGA... | pathogenic | 255,629 |
Classify the chromosome 16 variant at position 78108404 affecting gene WWOX (WW domain containing oxidoreductase) as benign or pathogenic. If pathogenic, which disease(s) is associated? | benign | CACTGTGCCAGCAGAGAGCGGGTTATCCTTACTAGAGAGCCAGAGAGTCAGAACGGTTTTTTTTTGTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCACAATTGTTGCCCAGGCTGGAGTGCACGATCTCAGCTCACCGCAGCCTCTGCCTGCCGGGTTGAAGCAATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCACGCCAGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATGTTGTTCAGGCTGGTCGCGAACTCCTGACCTCAGGTAATCCGCCTGCCTTGCCCTCCT... | CACTGTGCCAGCAGAGAGCGGGTTATCCTTACTAGAGAGCCAGAGAGTCAGAACGGTTTTTTTTTGTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCACAATTGTTGCCCAGGCTGGAGTGCACGATCTCAGCTCACCGCAGCCTCTGCCTGCCGGGTTGAAGCAATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCACGCCAGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATGTTGTTCAGGCTGGTCGCGAACTCCTGACCTCAGGTAATCCGCCTGCCTTGCCCTCCT... | benign | 255,635 |
Gene mutation in WWOX (WW domain containing oxidoreductase) at chromosome 16, position 78108404—is it benign or pathogenic? If pathogenic, specify the disease(s). | benign | CACTGTGCCAGCAGAGAGCGGGTTATCCTTACTAGAGAGCCAGAGAGTCAGAACGGTTTTTTTTTGTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCACAATTGTTGCCCAGGCTGGAGTGCACGATCTCAGCTCACCGCAGCCTCTGCCTGCCGGGTTGAAGCAATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCACGCCAGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATGTTGTTCAGGCTGGTCGCGAACTCCTGACCTCAGGTAATCCGCCTGCCTTGCCCTCCT... | CACTGTGCCAGCAGAGAGCGGGTTATCCTTACTAGAGAGCCAGAGAGTCAGAACGGTTTTTTTTTGTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCACAATTGTTGCCCAGGCTGGAGTGCACGATCTCAGCTCACCGCAGCCTCTGCCTGCCGGGTTGAAGCAATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCACGCCAGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATGTTGTTCAGGCTGGTCGCGAACTCCTGACCTCAGGTAATCCGCCTGCCTTGCCCTCCT... | benign | 255,636 |
Clinical impact (benign or pathogenic) of the variant at chromosome 16, location 78108410, gene WWOX (WW domain containing oxidoreductase): what disease(s) if pathogenic? | benign | GCCAGCAGAGAGCGGGTTATCCTTACTAGAGAGCCAGAGAGTCAGAACGGTTTTTTTTTGTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCACAATTGTTGCCCAGGCTGGAGTGCACGATCTCAGCTCACCGCAGCCTCTGCCTGCCGGGTTGAAGCAATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCACGCCAGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATGTTGTTCAGGCTGGTCGCGAACTCCTGACCTCAGGTAATCCGCCTGCCTTGCCCTCCTGAAGTA... | GCCAGCAGAGAGCGGGTTATCCTTACTAGAGAGCCAGAGAGTCAGAACGGTTTTTTTTTGTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCACAATTGTTGCCCAGGCTGGAGTGCACGATCTCAGCTCACCGCAGCCTCTGCCTGCCGGGTTGAAGCAATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCACGCCAGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATGTTGTTCAGGCTGGTCGCGAACTCCTGACCTCAGGTAATCCGCCTGCCTTGCCCTCCTGAAGTA... | benign | 255,637 |
The chromosome 16, position 78108411 genetic variant in gene WWOX (WW domain containing oxidoreductase): benign or pathogenic? If pathogenic, indicate disease(s). | benign | CCAGCAGAGAGCGGGTTATCCTTACTAGAGAGCCAGAGAGTCAGAACGGTTTTTTTTTGTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCACAATTGTTGCCCAGGCTGGAGTGCACGATCTCAGCTCACCGCAGCCTCTGCCTGCCGGGTTGAAGCAATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCACGCCAGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATGTTGTTCAGGCTGGTCGCGAACTCCTGACCTCAGGTAATCCGCCTGCCTTGCCCTCCTGAAGTAC... | CCAGCAGAGAGCGGGTTATCCTTACTAGAGAGCCAGAGAGTCAGAACGGTTTTTTTTTGTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCACAATTGTTGCCCAGGCTGGAGTGCACGATCTCAGCTCACCGCAGCCTCTGCCTGCCGGGTTGAAGCAATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCACGCCAGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATGTTGTTCAGGCTGGTCGCGAACTCCTGACCTCAGGTAATCCGCCTGCCTTGCCCTCCTGAAGTAC... | benign | 255,638 |
Is the chromosome 16, position 78386894 variant in WWOX (WW domain containing oxidoreductase) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Autosomal_recessive_spinocerebellar_ataxia_12', 'Developmental_and_epileptic_encephalopathy,_1', 'Developmental_and_epileptic_encephalopathy,_28'] | AGGCTTTGTGCCAGGTGCGGTGGCTCACGCCTGTAATCCTAGCACTTTCGGAGGCCGGGGTGGGTGGATCACAAGGTCAAGAGATTGAGACCATCCTGGCCAACATGGTGAAACCCCGTCTGTACTGAAAATACAAAAATAAGCTGGGTGTGTTGGCACGCACCTGTAGTCCCAGCTAGTCGGGAGGCTGAGGCAGGAGAATCGCTTGAGCCCAGGAAGTGGAGGTTGCAGTGAGCCAAGATGGTGCCACTGCACTTCAGCCTGGGCGACAGAGTGAGACTCCATCTAAACACACACACACACACACACACACACAAAAG... | AGGCTTTGTGCCAGGTGCGGTGGCTCACGCCTGTAATCCTAGCACTTTCGGAGGCCGGGGTGGGTGGATCACAAGGTCAAGAGATTGAGACCATCCTGGCCAACATGGTGAAACCCCGTCTGTACTGAAAATACAAAAATAAGCTGGGTGTGTTGGCACGCACCTGTAGTCCCAGCTAGTCGGGAGGCTGAGGCAGGAGAATCGCTTGAGCCCAGGAAGTGGAGGTTGCAGTGAGCCAAGATGGTGCCACTGCACTTCAGCCTGGGCGACAGAGTGAGACTCCATCTAAACACACACACACACACACACACACACAAAAG... | pathogenic | 255,695 |
A mutation at chromosome position 78386945 on chromosome 16 in gene WWOX (WW domain containing oxidoreductase): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Autosomal_recessive_spinocerebellar_ataxia_12', 'Developmental_and_epileptic_encephalopathy,_1', 'Developmental_and_epileptic_encephalopathy,_28'] | AGGCCGGGGTGGGTGGATCACAAGGTCAAGAGATTGAGACCATCCTGGCCAACATGGTGAAACCCCGTCTGTACTGAAAATACAAAAATAAGCTGGGTGTGTTGGCACGCACCTGTAGTCCCAGCTAGTCGGGAGGCTGAGGCAGGAGAATCGCTTGAGCCCAGGAAGTGGAGGTTGCAGTGAGCCAAGATGGTGCCACTGCACTTCAGCCTGGGCGACAGAGTGAGACTCCATCTAAACACACACACACACACACACACACACAAAAGCACAGGGCTTTGTTAGCAGGCATGACTTGGATTCTTTAGGATCCTTCCCTC... | AGGCCGGGGTGGGTGGATCACAAGGTCAAGAGATTGAGACCATCCTGGCCAACATGGTGAAACCCCGTCTGTACTGAAAATACAAAAATAAGCTGGGTGTGTTGGCACGCACCTGTAGTCCCAGCTAGTCGGGAGGCTGAGGCAGGAGAATCGCTTGAGCCCAGGAAGTGGAGGTTGCAGTGAGCCAAGATGGTGCCACTGCACTTCAGCCTGGGCGACAGAGTGAGACTCCATCTAAACACACACACACACACACACACACACAAAAGCACAGGGCTTTGTTAGCAGGCATGACTTGGATTCTTTAGGATCCTTCCCTC... | pathogenic | 255,700 |
Variant chromosome 16, position 78424965, gene WWOX (WW domain containing oxidoreductase): benign or pathogenic? Disease(s)? | pathogenic; ['Autosomal_recessive_spinocerebellar_ataxia_12', 'Developmental_and_epileptic_encephalopathy,_1', 'Developmental_and_epileptic_encephalopathy,_28'] | TCTCTGTTGCCCAGGCTGGGGTGCAGTGACATGATCTCTGCTCACTACAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCCTTAGCCTCCCAAGTAGCTGGGATTACAGGCGTGTGCCACCACGCTGGGCTAACTTTTGTATTTTTAGTAGAGATGGGGGTTTCACCATGTTGGTCAGGCTGGTCTTGAACTTCTGACCTCGTGATTTGCCTGCCTCAGCCTCCCAAAGTGCTGAGATTACAGGCGTGAGCCGCCATGCCTGCCCTTATTTTTATATATCTTCCATAACCTTTCTATCTCTTTCTTTCTCTTTCTCT... | TCTCTGTTGCCCAGGCTGGGGTGCAGTGACATGATCTCTGCTCACTACAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCCTTAGCCTCCCAAGTAGCTGGGATTACAGGCGTGTGCCACCACGCTGGGCTAACTTTTGTATTTTTAGTAGAGATGGGGGTTTCACCATGTTGGTCAGGCTGGTCTTGAACTTCTGACCTCGTGATTTGCCTGCCTCAGCCTCCCAAAGTGCTGAGATTACAGGCGTGAGCCGCCATGCCTGCCCTTATTTTTATATATCTTCCATAACCTTTCTATCTCTTTCTTTCTCTTTCTCT... | pathogenic | 255,715 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 16, position 78432613, gene WWOX (WW domain containing oxidoreductase). What disease(s) is it linked to if pathogenic? | pathogenic; ['Autosomal_recessive_spinocerebellar_ataxia_12', 'Developmental_and_epileptic_encephalopathy,_1', 'Developmental_and_epileptic_encephalopathy,_28', 'Epileptic_encephalopathy'] | AGCAGTCATCACGACAACCAGAAGAAGGCCGTCATATATTTTCAAATTGCCTGCTGAGTTCCATTGCCTTAGACAATTAAGCTTGGAAGTCAGACTCTTCCTGTGGTTTGGGTACTAGAAAAAAGGCAGCCAACAATTCGTTTCAAGGTCTCATTTCTGTATCCTTGATGACGTTTCTGGCCATCAGCTTTGTTGATGACTTTAGAGCAGCTATGTCATTTAACACTAGAAATTGGATGTCACCGAGTCCTGTGGAAGGGATATTTAATTTCCATTAAAACATGAATTTCATTCTGCCCTTGCCATGCTTTTCTTGGTCT... | AGCAGTCATCACGACAACCAGAAGAAGGCCGTCATATATTTTCAAATTGCCTGCTGAGTTCCATTGCCTTAGACAATTAAGCTTGGAAGTCAGACTCTTCCTGTGGTTTGGGTACTAGAAAAAAGGCAGCCAACAATTCGTTTCAAGGTCTCATTTCTGTATCCTTGATGACGTTTCTGGCCATCAGCTTTGTTGATGACTTTAGAGCAGCTATGTCATTTAACACTAGAAATTGGATGTCACCGAGTCCTGTGGAAGGGATATTTAATTTCCATTAAAACATGAATTTCATTCTGCCCTTGCCATGCTTTTCTTGGTCT... | pathogenic | 255,741 |
Evaluate the clinical significance of the mutation at chromosome 16, position 78432736 in gene WWOX (WW domain containing oxidoreductase): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Autosomal_recessive_spinocerebellar_ataxia_12', 'Developmental_and_epileptic_encephalopathy,_1', 'Developmental_and_epileptic_encephalopathy,_28'] | AGGCAGCCAACAATTCGTTTCAAGGTCTCATTTCTGTATCCTTGATGACGTTTCTGGCCATCAGCTTTGTTGATGACTTTAGAGCAGCTATGTCATTTAACACTAGAAATTGGATGTCACCGAGTCCTGTGGAAGGGATATTTAATTTCCATTAAAACATGAATTTCATTCTGCCCTTGCCATGCTTTTCTTGGTCTTAGCCCAACCTGAGCTGCTGATATTAAGGAATAATAGGATAATTCCATAATTTTCATTTTACCTTTTGCTTTTTGTTTTCCATAGCAGTTATCTAGAGGATTCCCATTATGCTTCTTCATTAC... | AGGCAGCCAACAATTCGTTTCAAGGTCTCATTTCTGTATCCTTGATGACGTTTCTGGCCATCAGCTTTGTTGATGACTTTAGAGCAGCTATGTCATTTAACACTAGAAATTGGATGTCACCGAGTCCTGTGGAAGGGATATTTAATTTCCATTAAAACATGAATTTCATTCTGCCCTTGCCATGCTTTTCTTGGTCTTAGCCCAACCTGAGCTGCTGATATTAAGGAATAATAGGATAATTCCATAATTTTCATTTTACCTTTTGCTTTTTGTTTTCCATAGCAGTTATCTAGAGGATTCCCATTATGCTTCTTCATTAC... | pathogenic | 255,752 |
Determine if the mutation at chromosome 16, position 79211588 in gene WWOX is benign or pathogenic. If pathogenic, what disease(s) is associated? | benign | TGAGCTGGATTCTCCCACCACTCGGGAGTTAATGGCAAGTCACTTGGCCACTCTGGTCGTTTTGGCAGCTGCAAGGTAAAATGAAAATATATGACAGATATCTGGAAGTTGATACAAAACACCATCTCCACCAGAACTCTAAGATTCCAGGCCAAAATAATACTTGGCTTGAGTTAGCTGGATGAGCATCTCAATTCTCCAATTTGTCTTTAGAGGCACTTCTGCTTCCCTTTTCCCCACATGGGATGCAGAAGAGCCAGATAAACCCCTTGAAGTTGTTTAGATAAATGTGCCAGGTGCTAAGCTCAGGGTTATTAGGA... | TGAGCTGGATTCTCCCACCACTCGGGAGTTAATGGCAAGTCACTTGGCCACTCTGGTCGTTTTGGCAGCTGCAAGGTAAAATGAAAATATATGACAGATATCTGGAAGTTGATACAAAACACCATCTCCACCAGAACTCTAAGATTCCAGGCCAAAATAATACTTGGCTTGAGTTAGCTGGATGAGCATCTCAATTCTCCAATTTGTCTTTAGAGGCACTTCTGCTTCCCTTTTCCCCACATGGGATGCAGAAGAGCCAGATAAACCCCTTGAAGTTGTTTAGATAAATGTGCCAGGTGCTAAGCTCAGGGTTATTAGGA... | benign | 255,762 |
Variant at chromosome position 79211654, chromosome 16, gene WWOX: benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Autosomal_recessive_spinocerebellar_ataxia_12', 'Developmental_and_epileptic_encephalopathy,_1'] | AGCTGCAAGGTAAAATGAAAATATATGACAGATATCTGGAAGTTGATACAAAACACCATCTCCACCAGAACTCTAAGATTCCAGGCCAAAATAATACTTGGCTTGAGTTAGCTGGATGAGCATCTCAATTCTCCAATTTGTCTTTAGAGGCACTTCTGCTTCCCTTTTCCCCACATGGGATGCAGAAGAGCCAGATAAACCCCTTGAAGTTGTTTAGATAAATGTGCCAGGTGCTAAGCTCAGGGTTATTAGGAATAATAATTCAGTGAAAGGAAATTTGGATGACATGAACTCATTTCCATTAGACTTGAGCCACACAA... | AGCTGCAAGGTAAAATGAAAATATATGACAGATATCTGGAAGTTGATACAAAACACCATCTCCACCAGAACTCTAAGATTCCAGGCCAAAATAATACTTGGCTTGAGTTAGCTGGATGAGCATCTCAATTCTCCAATTTGTCTTTAGAGGCACTTCTGCTTCCCTTTTCCCCACATGGGATGCAGAAGAGCCAGATAAACCCCTTGAAGTTGTTTAGATAAATGTGCCAGGTGCTAAGCTCAGGGTTATTAGGAATAATAATTCAGTGAAAGGAAATTTGGATGACATGAACTCATTTCCATTAGACTTGAGCCACACAA... | pathogenic | 255,766 |
The mutation in gene WWOX at chromosome 16, position 79211995—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | benign | TGAATCCAGGATAATATCTGGCTATTTGGAGTGGGCATGATAATGGAGGGAGATTGGGGAGGTAACAAACCAGCTACTATTAAGTTCAAGTCATGTCAGTTATTCAAATTCAGGACCAGTGGAACTTGTCCAGTATCATCAAGCAGCCAGTTATTATCAAAACCCAAGTCTTTGTCTCACTCACGGTCCACACCCCGCCCAGAGTCGTATCACTTGACTGCATTTGACCATTCAGTTTTCAGACCAACTCCATTGTTACTAGATATCCTGACACTGAAGAAGCTAAAACCAAACAACAATGACAACAACAAACCCAAGTC... | TGAATCCAGGATAATATCTGGCTATTTGGAGTGGGCATGATAATGGAGGGAGATTGGGGAGGTAACAAACCAGCTACTATTAAGTTCAAGTCATGTCAGTTATTCAAATTCAGGACCAGTGGAACTTGTCCAGTATCATCAAGCAGCCAGTTATTATCAAAACCCAAGTCTTTGTCTCACTCACGGTCCACACCCCGCCCAGAGTCGTATCACTTGACTGCATTTGACCATTCAGTTTTCAGACCAACTCCATTGTTACTAGATATCCTGACACTGAAGAAGCTAAAACCAAACAACAATGACAACAACAAACCCAAGTC... | benign | 255,790 |
Does the genetic variant at chromosome 16, position 79599192, impacting gene MAF (MAF bZIP transcription factor), appear benign or pathogenic? If pathogenic, name the associated disease(s). | benign | CTCTACCCCCCTTAACATCACAATAGTAAACAATTTAGTGCATCAATCGTTTAAAAAATCTACAGCTAAACAGACCTAACTCTTTCAAATTTATCTATAACATTCCTTTATCTGTAGCATACATTTTAACTGGGCTAACAGATTATAAAAACTAGAATTAAATTATATACTAGAAACCCAGAGCATTCCACATTTGACAATGACCAAAAGCCAAAAAATATAAAATAAAAATAAAACAAACCAAAAATAATGGGGCAGTTTCTCTTTTTAAAAAATAAATTTTAGACTGCTTCTCGGCAATAGCACAATTTTAGTCCCCA... | CTCTACCCCCCTTAACATCACAATAGTAAACAATTTAGTGCATCAATCGTTTAAAAAATCTACAGCTAAACAGACCTAACTCTTTCAAATTTATCTATAACATTCCTTTATCTGTAGCATACATTTTAACTGGGCTAACAGATTATAAAAACTAGAATTAAATTATATACTAGAAACCCAGAGCATTCCACATTTGACAATGACCAAAAGCCAAAAAATATAAAATAAAAATAAAACAAACCAAAAATAATGGGGCAGTTTCTCTTTTTAAAAAATAAATTTTAGACTGCTTCTCGGCAATAGCACAATTTTAGTCCCCA... | benign | 255,809 |
Is the chromosome 16, position 79599192 variant in MAF (MAF bZIP transcription factor) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | benign | CTCTACCCCCCTTAACATCACAATAGTAAACAATTTAGTGCATCAATCGTTTAAAAAATCTACAGCTAAACAGACCTAACTCTTTCAAATTTATCTATAACATTCCTTTATCTGTAGCATACATTTTAACTGGGCTAACAGATTATAAAAACTAGAATTAAATTATATACTAGAAACCCAGAGCATTCCACATTTGACAATGACCAAAAGCCAAAAAATATAAAATAAAAATAAAACAAACCAAAAATAATGGGGCAGTTTCTCTTTTTAAAAAATAAATTTTAGACTGCTTCTCGGCAATAGCACAATTTTAGTCCCCA... | CTCTACCCCCCTTAACATCACAATAGTAAACAATTTAGTGCATCAATCGTTTAAAAAATCTACAGCTAAACAGACCTAACTCTTTCAAATTTATCTATAACATTCCTTTATCTGTAGCATACATTTTAACTGGGCTAACAGATTATAAAAACTAGAATTAAATTATATACTAGAAACCCAGAGCATTCCACATTTGACAATGACCAAAAGCCAAAAAATATAAAATAAAAATAAAACAAACCAAAAATAATGGGGCAGTTTCTCTTTTTAAAAAATAAATTTTAGACTGCTTCTCGGCAATAGCACAATTTTAGTCCCCA... | benign | 255,810 |
A genetic variant on chromosome 16, position 79599201, affects the gene MAF (MAF bZIP transcription factor). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | benign | CCTTAACATCACAATAGTAAACAATTTAGTGCATCAATCGTTTAAAAAATCTACAGCTAAACAGACCTAACTCTTTCAAATTTATCTATAACATTCCTTTATCTGTAGCATACATTTTAACTGGGCTAACAGATTATAAAAACTAGAATTAAATTATATACTAGAAACCCAGAGCATTCCACATTTGACAATGACCAAAAGCCAAAAAATATAAAATAAAAATAAAACAAACCAAAAATAATGGGGCAGTTTCTCTTTTTAAAAAATAAATTTTAGACTGCTTCTCGGCAATAGCACAATTTTAGTCCCCAAAGTGGGGC... | CCTTAACATCACAATAGTAAACAATTTAGTGCATCAATCGTTTAAAAAATCTACAGCTAAACAGACCTAACTCTTTCAAATTTATCTATAACATTCCTTTATCTGTAGCATACATTTTAACTGGGCTAACAGATTATAAAAACTAGAATTAAATTATATACTAGAAACCCAGAGCATTCCACATTTGACAATGACCAAAAGCCAAAAAATATAAAATAAAAATAAAACAAACCAAAAATAATGGGGCAGTTTCTCTTTTTAAAAAATAAATTTTAGACTGCTTCTCGGCAATAGCACAATTTTAGTCCCCAAAGTGGGGC... | benign | 255,812 |
The chromosome 16, position 79599908 genetic variant in gene MAF (MAF bZIP transcription factor): benign or pathogenic? If pathogenic, indicate disease(s). | benign | CATTGTTGCTAAGACAAAGTAGCAAGCATAATAATGCATGAGATGAGAATGAGTTTTTTTAATGGCAGACTAAACTCTCAGATTTGGCATCACAAGGCCAAAACTCACAAGTCACACCCAGAAGGTTGATGCAGGCTTGATTGTGGAAGGTTCATGAGGATTTTTTTCTCTATTTTAGCATAACAATGCTAAAAAAAAAACCCGATGGAACTCGGCACGCTGCAAGTCTATAACATTTCACATTTTTTTTTCCTTTGCAAGCTCAATCTCACATGAAGAACTCAGGAGAAGAAAAAAAAACTTTGCTTTTTTTTTTCTTT... | CATTGTTGCTAAGACAAAGTAGCAAGCATAATAATGCATGAGATGAGAATGAGTTTTTTTAATGGCAGACTAAACTCTCAGATTTGGCATCACAAGGCCAAAACTCACAAGTCACACCCAGAAGGTTGATGCAGGCTTGATTGTGGAAGGTTCATGAGGATTTTTTTCTCTATTTTAGCATAACAATGCTAAAAAAAAAACCCGATGGAACTCGGCACGCTGCAAGTCTATAACATTTCACATTTTTTTTTCCTTTGCAAGCTCAATCTCACATGAAGAACTCAGGAGAAGAAAAAAAAACTTTGCTTTTTTTTTTCTTT... | benign | 255,824 |
For chromosome 16, position 79599908, gene MAF (MAF bZIP transcription factor): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | benign | CATTGTTGCTAAGACAAAGTAGCAAGCATAATAATGCATGAGATGAGAATGAGTTTTTTTAATGGCAGACTAAACTCTCAGATTTGGCATCACAAGGCCAAAACTCACAAGTCACACCCAGAAGGTTGATGCAGGCTTGATTGTGGAAGGTTCATGAGGATTTTTTTCTCTATTTTAGCATAACAATGCTAAAAAAAAAACCCGATGGAACTCGGCACGCTGCAAGTCTATAACATTTCACATTTTTTTTTCCTTTGCAAGCTCAATCTCACATGAAGAACTCAGGAGAAGAAAAAAAAACTTTGCTTTTTTTTTTCTTT... | CATTGTTGCTAAGACAAAGTAGCAAGCATAATAATGCATGAGATGAGAATGAGTTTTTTTAATGGCAGACTAAACTCTCAGATTTGGCATCACAAGGCCAAAACTCACAAGTCACACCCAGAAGGTTGATGCAGGCTTGATTGTGGAAGGTTCATGAGGATTTTTTTCTCTATTTTAGCATAACAATGCTAAAAAAAAAACCCGATGGAACTCGGCACGCTGCAAGTCTATAACATTTCACATTTTTTTTTCCTTTGCAAGCTCAATCTCACATGAAGAACTCAGGAGAAGAAAAAAAAACTTTGCTTTTTTTTTTCTTT... | benign | 255,825 |
Mutation found at chromosome 16 position 79599908, gene MAF (MAF bZIP transcription factor): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | benign | CATTGTTGCTAAGACAAAGTAGCAAGCATAATAATGCATGAGATGAGAATGAGTTTTTTTAATGGCAGACTAAACTCTCAGATTTGGCATCACAAGGCCAAAACTCACAAGTCACACCCAGAAGGTTGATGCAGGCTTGATTGTGGAAGGTTCATGAGGATTTTTTTCTCTATTTTAGCATAACAATGCTAAAAAAAAAACCCGATGGAACTCGGCACGCTGCAAGTCTATAACATTTCACATTTTTTTTTCCTTTGCAAGCTCAATCTCACATGAAGAACTCAGGAGAAGAAAAAAAAACTTTGCTTTTTTTTTTCTTT... | CATTGTTGCTAAGACAAAGTAGCAAGCATAATAATGCATGAGATGAGAATGAGTTTTTTTAATGGCAGACTAAACTCTCAGATTTGGCATCACAAGGCCAAAACTCACAAGTCACACCCAGAAGGTTGATGCAGGCTTGATTGTGGAAGGTTCATGAGGATTTTTTTCTCTATTTTAGCATAACAATGCTAAAAAAAAAACCCGATGGAACTCGGCACGCTGCAAGTCTATAACATTTCACATTTTTTTTTCCTTTGCAAGCTCAATCTCACATGAAGAACTCAGGAGAAGAAAAAAAAACTTTGCTTTTTTTTTTCTTT... | benign | 255,826 |
Does the chromosome 16 mutation at position 81084602 within gene GCSH (glycine cleavage system protein H) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | benign | AAGAATAACAATGTTATCTTTGAATTATGTAATTTTTATAACTAGTTTTTACCATGGATAATTTCATGAATTCTGAACACTAGAGCCTAGTCTAAAAATCATAGGATATTGTGAAAAAGACGCATATTATATTTATCTATAATCATTAGAAAGTTAAAGGGCATTTTCTTTCATTAGCAGTGTTAACAGTAGTTTTTTTTTCCCCATCGGTAATACTAAAAGTTTCTATTCTAAGTCTTCTATCCACCACTAATTTAAGACAACTCTGCTGGCTTGCGTTATTTCATACTAGTTTATTTAGGAGTTCCATTTTCACTCCT... | AAGAATAACAATGTTATCTTTGAATTATGTAATTTTTATAACTAGTTTTTACCATGGATAATTTCATGAATTCTGAACACTAGAGCCTAGTCTAAAAATCATAGGATATTGTGAAAAAGACGCATATTATATTTATCTATAATCATTAGAAAGTTAAAGGGCATTTTCTTTCATTAGCAGTGTTAACAGTAGTTTTTTTTTCCCCATCGGTAATACTAAAAGTTTCTATTCTAAGTCTTCTATCCACCACTAATTTAAGACAACTCTGCTGGCTTGCGTTATTTCATACTAGTTTATTTAGGAGTTCCATTTTCACTCCT... | benign | 255,837 |
Classify the chromosome 16 variant at position 81354747 affecting gene GAN (gigaxonin) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Giant_axonal_neuropathy_1'] | TTGGTTTGATTTCATGCTTTCTCTCTTCTCTCAGCACTAGTGGGTGGGTGTGTACGTGTATGATTGTTAAAAGTAAATGAATTTAAGTTAATCTGGGGACAGCCCAGAGATGCTCTGTAGCATCACATAACCAGGGCTAAGACCAACCTCTCCTCCACCTTGTAAAGTCAATCCAGCAGCAGTTATTAGTATAATGAGTTATAAGCCAGTAAGAGCCTATTCATGTTCAGGCTTGGATTTGAAAGTTGAAACATTATTTACAGATTGAGTTCTGTGATTTGTTCCCAATTTAAATTTAAAACGATAGTTGGGGCCGGGCG... | TTGGTTTGATTTCATGCTTTCTCTCTTCTCTCAGCACTAGTGGGTGGGTGTGTACGTGTATGATTGTTAAAAGTAAATGAATTTAAGTTAATCTGGGGACAGCCCAGAGATGCTCTGTAGCATCACATAACCAGGGCTAAGACCAACCTCTCCTCCACCTTGTAAAGTCAATCCAGCAGCAGTTATTAGTATAATGAGTTATAAGCCAGTAAGAGCCTATTCATGTTCAGGCTTGGATTTGAAAGTTGAAACATTATTTACAGATTGAGTTCTGTGATTTGTTCCCAATTTAAATTTAAAACGATAGTTGGGGCCGGGCG... | pathogenic | 255,893 |
A genetic alteration at chromosome 16, position 81869124, in gene PLCG2 (phospholipase C gamma 2)—benign or pathogenic? If pathogenic, which disease(s) is involved? | benign | TGAAGTCTGTGCTGTTACAGAGGCCCTTAGAACCAGAGGAAAGGCTGGAGGTGGGGACACAGGATGGCCAGAGTCACACTGGACCGTCTCCAGGGCAGCGGCTGGGCAGTGACGCGCTACTTCCTTCCGCATGCCACAGCAGAAGCTGGGAGGATGGTACAGGGAAACTAGGTGGTTTTCTCCTGCAAGGTGGGGCGAGCTTCCTCTCTTGACCACTCTGTCTCAGCTCTGCTGGACACTTGGCTCCAGCCAGAAGGGTCTGGATCTCATATTCTTGACCCACCCACCCCACTAATTTCACTTCTCCTTCTTGTGTGAGC... | TGAAGTCTGTGCTGTTACAGAGGCCCTTAGAACCAGAGGAAAGGCTGGAGGTGGGGACACAGGATGGCCAGAGTCACACTGGACCGTCTCCAGGGCAGCGGCTGGGCAGTGACGCGCTACTTCCTTCCGCATGCCACAGCAGAAGCTGGGAGGATGGTACAGGGAAACTAGGTGGTTTTCTCCTGCAAGGTGGGGCGAGCTTCCTCTCTTGACCACTCTGTCTCAGCTCTGCTGGACACTTGGCTCCAGCCAGAAGGGTCTGGATCTCATATTCTTGACCCACCCACCCCACTAATTTCACTTCTCCTTCTTGTGTGAGC... | benign | 255,981 |
Clinical significance of chromosome 16, position 81870769, gene PLCG2 (phospholipase C gamma 2): benign or pathogenic? Name the disease(s) if pathogenic. | benign | TGGCATTTTGTATTGAGATTATCTGGTCATTTGACATCATTTTCTGCCCACACTGAATCTCCTGCAAGACCTTCCTCCATGACCATTCCTGAAGGGTGGAGACCAGCCCTTCTCACTGGGACATCACCCTATACTGGGGATCTCCAGTGTAGGTGCCTCCTCATTGGGGCATCACTGTACGCTATAAATCTCTTATGTGACCTATGTCCCTGGACATACCTGAAGGGTGGAGACCAGCCCTCCTTATTGGGGCATCACCCTACCCTGTGAGTCTGCTATGTGACCCATGTCCATGGACATTGCTTGAGCCTTGCTCATTG... | TGGCATTTTGTATTGAGATTATCTGGTCATTTGACATCATTTTCTGCCCACACTGAATCTCCTGCAAGACCTTCCTCCATGACCATTCCTGAAGGGTGGAGACCAGCCCTTCTCACTGGGACATCACCCTATACTGGGGATCTCCAGTGTAGGTGCCTCCTCATTGGGGCATCACTGTACGCTATAAATCTCTTATGTGACCTATGTCCCTGGACATACCTGAAGGGTGGAGACCAGCCCTCCTTATTGGGGCATCACCCTACCCTGTGAGTCTGCTATGTGACCCATGTCCATGGACATTGCTTGAGCCTTGCTCATTG... | benign | 255,990 |
Evaluate this variant at chromosome 16, position 81870828, gene PLCG2 (phospholipase C gamma 2): benign or pathogenic? If pathogenic, what are the disease connection(s)? | benign | TCCTGCAAGACCTTCCTCCATGACCATTCCTGAAGGGTGGAGACCAGCCCTTCTCACTGGGACATCACCCTATACTGGGGATCTCCAGTGTAGGTGCCTCCTCATTGGGGCATCACTGTACGCTATAAATCTCTTATGTGACCTATGTCCCTGGACATACCTGAAGGGTGGAGACCAGCCCTCCTTATTGGGGCATCACCCTACCCTGTGAGTCTGCTATGTGACCCATGTCCATGGACATTGCTTGAGCCTTGCTCATTGAAGTGTCACCCTTACCTTGACTCAATGTCTTGTTCCCAGTTAGTGGTCCATAAATAACT... | TCCTGCAAGACCTTCCTCCATGACCATTCCTGAAGGGTGGAGACCAGCCCTTCTCACTGGGACATCACCCTATACTGGGGATCTCCAGTGTAGGTGCCTCCTCATTGGGGCATCACTGTACGCTATAAATCTCTTATGTGACCTATGTCCCTGGACATACCTGAAGGGTGGAGACCAGCCCTCCTTATTGGGGCATCACCCTACCCTGTGAGTCTGCTATGTGACCCATGTCCATGGACATTGCTTGAGCCTTGCTCATTGAAGTGTCACCCTTACCTTGACTCAATGTCTTGTTCCCAGTTAGTGGTCCATAAATAACT... | benign | 255,992 |
Located at chromosome 16 position 81921183, the variant affecting gene PLCG2 (phospholipase C gamma 2)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | benign | TTATTTATAAAAGCAGGTGGTGGGACACATTTGGCCTACTCTTGACCTAGTTCCCTAGGAAGCTCCTAAAGTCAAGTCCTGTAGTTGGGGAGGAGAGGAAGGGTAAGAGGAGCTGTTGAGTCACTCGGCCATATTTCTTCTGAGACACAGATTCTTCTAGATCTGTTTTGAAAATACCCACATCATTGTTTTCTTATTGTCTTGTATTCCATAGGAGGACTATACCCTGTTTATTTACCCACTTCTCTAAGGCTGGATAACTAGGTTGTATCTAATCAGTAGGGTTTGTGTAAAAATTGTTTGGCCACCAGGATCTTGGC... | TTATTTATAAAAGCAGGTGGTGGGACACATTTGGCCTACTCTTGACCTAGTTCCCTAGGAAGCTCCTAAAGTCAAGTCCTGTAGTTGGGGAGGAGAGGAAGGGTAAGAGGAGCTGTTGAGTCACTCGGCCATATTTCTTCTGAGACACAGATTCTTCTAGATCTGTTTTGAAAATACCCACATCATTGTTTTCTTATTGTCTTGTATTCCATAGGAGGACTATACCCTGTTTATTTACCCACTTCTCTAAGGCTGGATAACTAGGTTGTATCTAATCAGTAGGGTTTGTGTAAAAATTGTTTGGCCACCAGGATCTTGGC... | benign | 256,105 |
Variant at chromosome position 83899203, chromosome 16, gene MLYCD: benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Deficiency_of_malonyl-CoA_decarboxylase'] | GGAGAGAGGGGGTGGTGATGCACACTTCTAAACAACCGGATCTCCTGAGAACTCACTGTAGGGTACCAAGCGGGGATGGTGCTAACCCATTTATGAGAACTCTGCCCCTATGATCCAATCATTTCTTACCAGGCGCCACCTCCAACACTGAGGATTACAACTAGACATGAGATTTGGTTGGACACAGATCCAAACCATATGAGCTATATTAACAATATTACATCTTCCAATCCATGAACCATGCATGGACCATTCCATTTGTTTAGGTCTTCTTTAATTTCCTTCAATACTGTTCTGTGGTTTTCCATCTACCAGTCTCA... | GGAGAGAGGGGGTGGTGATGCACACTTCTAAACAACCGGATCTCCTGAGAACTCACTGTAGGGTACCAAGCGGGGATGGTGCTAACCCATTTATGAGAACTCTGCCCCTATGATCCAATCATTTCTTACCAGGCGCCACCTCCAACACTGAGGATTACAACTAGACATGAGATTTGGTTGGACACAGATCCAAACCATATGAGCTATATTAACAATATTACATCTTCCAATCCATGAACCATGCATGGACCATTCCATTTGTTTAGGTCTTCTTTAATTTCCTTCAATACTGTTCTGTGGTTTTCCATCTACCAGTCTCA... | pathogenic | 256,231 |
Does the genetic variant at chromosome 16, position 83899381, impacting gene MLYCD (malonyl-CoA decarboxylase), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Deficiency_of_malonyl-CoA_decarboxylase'] | TGGACACAGATCCAAACCATATGAGCTATATTAACAATATTACATCTTCCAATCCATGAACCATGCATGGACCATTCCATTTGTTTAGGTCTTCTTTAATTTCCTTCAATACTGTTCTGTGGTTTTCCATCTACCAGTCTCACACTTCCTTGGTTAAACATGTTTCTTTTATCCCTTCAGATGTTGTTGTAAATAGAATTGTTTCTTTAATTTCATTTTTGGATTGGGGCAGTCTTTTGAAATAAGGACATGAGTGGGAAAAAGCAGAGGATGGCTGTTGACGCCTAGAGAAAAAAGTATAAACACAGAGAAAAAAAAAA... | TGGACACAGATCCAAACCATATGAGCTATATTAACAATATTACATCTTCCAATCCATGAACCATGCATGGACCATTCCATTTGTTTAGGTCTTCTTTAATTTCCTTCAATACTGTTCTGTGGTTTTCCATCTACCAGTCTCACACTTCCTTGGTTAAACATGTTTCTTTTATCCCTTCAGATGTTGTTGTAAATAGAATTGTTTCTTTAATTTCATTTTTGGATTGGGGCAGTCTTTTGAAATAAGGACATGAGTGGGAAAAAGCAGAGGATGGCTGTTGACGCCTAGAGAAAAAAGTATAAACACAGAGAAAAAAAAAA... | pathogenic | 256,235 |
Classify the chromosome 16 variant at position 83899616 affecting gene MLYCD as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Deficiency_of_malonyl-CoA_decarboxylase'] | TTTGAAATAAGGACATGAGTGGGAAAAAGCAGAGGATGGCTGTTGACGCCTAGAGAAAAAAGTATAAACACAGAGAAAAAAAAAACAGAAGCCAGAAATTACATAAAAAGGAAGGCACCGGGAAAGATGAGAAAGAACAGGGTTGTGGGAGTACTACACTTAGCAAATGCTTAAGCAAAGTCAAGCTTTCAAGACAAGATTCCTAAAGCAAGGCAGGAGTATCCTAGGACAGACAAAAGCTCACTCGACAAGGCAAAGAGACAAACACCAGAGTTTGGACCCCACCAACTCCCTTAGCCAGCTGGCAATATGGTTTCACC... | TTTGAAATAAGGACATGAGTGGGAAAAAGCAGAGGATGGCTGTTGACGCCTAGAGAAAAAAGTATAAACACAGAGAAAAAAAAAACAGAAGCCAGAAATTACATAAAAAGGAAGGCACCGGGAAAGATGAGAAAGAACAGGGTTGTGGGAGTACTACACTTAGCAAATGCTTAAGCAAAGTCAAGCTTTCAAGACAAGATTCCTAAAGCAAGGCAGGAGTATCCTAGGACAGACAAAAGCTCACTCGACAAGGCAAAGAGACAAACACCAGAGTTTGGACCCCACCAACTCCCTTAGCCAGCTGGCAATATGGTTTCACC... | pathogenic | 256,240 |
A genetic alteration at chromosome 16, position 83899620, in gene MLYCD—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Deficiency_of_malonyl-CoA_decarboxylase'] | AAATAAGGACATGAGTGGGAAAAAGCAGAGGATGGCTGTTGACGCCTAGAGAAAAAAGTATAAACACAGAGAAAAAAAAAACAGAAGCCAGAAATTACATAAAAAGGAAGGCACCGGGAAAGATGAGAAAGAACAGGGTTGTGGGAGTACTACACTTAGCAAATGCTTAAGCAAAGTCAAGCTTTCAAGACAAGATTCCTAAAGCAAGGCAGGAGTATCCTAGGACAGACAAAAGCTCACTCGACAAGGCAAAGAGACAAACACCAGAGTTTGGACCCCACCAACTCCCTTAGCCAGCTGGCAATATGGTTTCACCACTT... | AAATAAGGACATGAGTGGGAAAAAGCAGAGGATGGCTGTTGACGCCTAGAGAAAAAAGTATAAACACAGAGAAAAAAAAAACAGAAGCCAGAAATTACATAAAAAGGAAGGCACCGGGAAAGATGAGAAAGAACAGGGTTGTGGGAGTACTACACTTAGCAAATGCTTAAGCAAAGTCAAGCTTTCAAGACAAGATTCCTAAAGCAAGGCAGGAGTATCCTAGGACAGACAAAAGCTCACTCGACAAGGCAAAGAGACAAACACCAGAGTTTGGACCCCACCAACTCCCTTAGCCAGCTGGCAATATGGTTTCACCACTT... | pathogenic | 256,241 |
Gene mutation in SLC38A8 (solute carrier family 38 member 8) at chromosome 16, position 84016678—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['FOVEAL_HYPOPLASIA_2_WITH_OPTIC_NERVE_MISROUTING_AND_ANTERIOR_SEGMENT_DYSGENESIS', 'Inborn_genetic_diseases'] | GGAGCAGAGTGGGTGGCTGTTCTCCTCCCCTCCCTTCACTTCACTTCCCCAGTCTTTATCTCTTAATCCCAGTAGACCCCAATTTACGGGAGCTGGGGCAGGTACGGTTAGATTCTCAAGGGACTACATCAAAGACAACCCCTGAATCTTAATTCACCTGCTAAGAACCCACTTTTCATATTCCACACATCAGTTGGCCTCTTTGATAACCAACATTTCTCTGTGGCCCTCAATTCTTCCATCGCCCCCCCACCTCCGGGGTATTGACAAAGTTGTCACCACCCACTTACCTGGGACCCTGAACAATGTTTCGTTTCATG... | GGAGCAGAGTGGGTGGCTGTTCTCCTCCCCTCCCTTCACTTCACTTCCCCAGTCTTTATCTCTTAATCCCAGTAGACCCCAATTTACGGGAGCTGGGGCAGGTACGGTTAGATTCTCAAGGGACTACATCAAAGACAACCCCTGAATCTTAATTCACCTGCTAAGAACCCACTTTTCATATTCCACACATCAGTTGGCCTCTTTGATAACCAACATTTCTCTGTGGCCCTCAATTCTTCCATCGCCCCCCCACCTCCGGGGTATTGACAAAGTTGTCACCACCCACTTACCTGGGACCCTGAACAATGTTTCGTTTCATG... | pathogenic | 256,293 |
Evaluate this variant at chromosome 16, position 84042146, gene SLC38A8 (solute carrier family 38 member 8): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Foveal_hypoplasia_-_optic_nerve_decussation_defect_-_anterior_segment_dysgenesis_syndrome'] | ACTGACTTCACATTTAAACGCTCCCCATGCAGAAGCCTCACCAGCTAAGTGGAGGATAGCAGCCTCCCCCAAATCTTCCATCATTCACAGTGACATCACTCCAGCCCCAACTCCATCTCCCCGGTAGCCCTGGAGGCTAAAAGGAACAACTTGGGGTGGCGGGAGCGTGTCAAGAGCCAGGCTGGCTCCTCTGCTCTGCCATGAGTTTCCATTTATTCACCTCAGGGTTCCCTTCTCCTCAAGTCTGCTGAGTGAAGGGATCTGGAGCTCATCCTAAGCAAAACAAAACAGCTGTTTCCCCAGAAGCAAGTCACAAATGT... | ACTGACTTCACATTTAAACGCTCCCCATGCAGAAGCCTCACCAGCTAAGTGGAGGATAGCAGCCTCCCCCAAATCTTCCATCATTCACAGTGACATCACTCCAGCCCCAACTCCATCTCCCCGGTAGCCCTGGAGGCTAAAAGGAACAACTTGGGGTGGCGGGAGCGTGTCAAGAGCCAGGCTGGCTCCTCTGCTCTGCCATGAGTTTCCATTTATTCACCTCAGGGTTCCCTTCTCCTCAAGTCTGCTGAGTGAAGGGATCTGGAGCTCATCCTAAGCAAAACAAAACAGCTGTTTCCCCAGAAGCAAGTCACAAATGT... | pathogenic | 256,332 |
Variant in gene DNAAF1 (dynein axonemal assembly factor 1), located at chromosome 16 position 84165762: benign or pathogenic? What disease(s) does it cause if pathogenic? | benign | AGTGGTGTCTCATTGTGGTTTCCATCTGCTTTTCCCTGGTAGATAATGATGTTGAGCACGTTTCATGTACTTATTGGCAGTTTTTATATCTTCTTTGGATAAATGCCTGTTCAGTTTCTTTGCTGATTTTTAAAAAATTAATAGACTTTTTTTTTTTTTTGTGGGGGACAGCGTTTTGCTCTGTCACCAAGCAACCCTCCCACCTCTCAGCCTCCTGAGTAGCTGGGACTGCAGGTGTGCACCACCATGCCTGGCTAGTTTTTGTGCTTTTTGTAGAGACGGGGTCTTGCCATGTTGCCCAGGCTGGTCTGGAACTCCTG... | AGTGGTGTCTCATTGTGGTTTCCATCTGCTTTTCCCTGGTAGATAATGATGTTGAGCACGTTTCATGTACTTATTGGCAGTTTTTATATCTTCTTTGGATAAATGCCTGTTCAGTTTCTTTGCTGATTTTTAAAAAATTAATAGACTTTTTTTTTTTTTTGTGGGGGACAGCGTTTTGCTCTGTCACCAAGCAACCCTCCCACCTCTCAGCCTCCTGAGTAGCTGGGACTGCAGGTGTGCACCACCATGCCTGGCTAGTTTTTGTGCTTTTTGTAGAGACGGGGTCTTGCCATGTTGCCCAGGCTGGTCTGGAACTCCTG... | benign | 256,383 |
Evaluate if the mutation on chromosome 16 at position 84165930 in DNAAF1 (dynein axonemal assembly factor 1) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Primary_ciliary_dyskinesia', 'Primary_ciliary_dyskinesia_13'] | CAGCGTTTTGCTCTGTCACCAAGCAACCCTCCCACCTCTCAGCCTCCTGAGTAGCTGGGACTGCAGGTGTGCACCACCATGCCTGGCTAGTTTTTGTGCTTTTTGTAGAGACGGGGTCTTGCCATGTTGCCCAGGCTGGTCTGGAACTCCTGGGCTCAAGCCATCTGCCCATCTTGGCCTCCCAGAGTGCTGAGATTACAGGCATGAGCCACTGCATCTGGCCTAGACTTTATTTTCAGAGCAGTTTTAGATTTACTGAAAAATTGAGCAGAAAGTAGAGAGAGTTTCCATATACCACCCGCCCTCACTGTTTCCCCTAT... | CAGCGTTTTGCTCTGTCACCAAGCAACCCTCCCACCTCTCAGCCTCCTGAGTAGCTGGGACTGCAGGTGTGCACCACCATGCCTGGCTAGTTTTTGTGCTTTTTGTAGAGACGGGGTCTTGCCATGTTGCCCAGGCTGGTCTGGAACTCCTGGGCTCAAGCCATCTGCCCATCTTGGCCTCCCAGAGTGCTGAGATTACAGGCATGAGCCACTGCATCTGGCCTAGACTTTATTTTCAGAGCAGTTTTAGATTTACTGAAAAATTGAGCAGAAAGTAGAGAGAGTTTCCATATACCACCCGCCCTCACTGTTTCCCCTAT... | pathogenic | 256,388 |
Variant at chromosome 16, position 84170123, gene DNAAF1 (dynein axonemal assembly factor 1): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['DNAAF1-related_disorder', 'Primary_ciliary_dyskinesia', 'Primary_ciliary_dyskinesia_13'] | GCCCAAAATGGGTTTCACTGAGCTAAAATCGAGGTGTCTCAGGGTTGTGTACCTTCTGGGGGCCCCAGGGGAGAACCCGCTTCCTTGCCTTTCTCACCTCCTAGAGGCCGCCTGCGTTCCCTGGCTCGTGGCCCCTTCTTCCAACTTCCATGCCAGCAGTGTGGCATCTTCCAGCCTCATTCTGACTCTGACGCTCCTGCCTCCCTATTCTGAGGGCTCTTGTGATTCTTTTGAACCTGCCTGGATAACCCAGGACAATTTCCTGATCTCAGGGTTCTAGATCCTAATCACATCTGCACAGTTCCTTTGTCCGTGTAAGG... | GCCCAAAATGGGTTTCACTGAGCTAAAATCGAGGTGTCTCAGGGTTGTGTACCTTCTGGGGGCCCCAGGGGAGAACCCGCTTCCTTGCCTTTCTCACCTCCTAGAGGCCGCCTGCGTTCCCTGGCTCGTGGCCCCTTCTTCCAACTTCCATGCCAGCAGTGTGGCATCTTCCAGCCTCATTCTGACTCTGACGCTCCTGCCTCCCTATTCTGAGGGCTCTTGTGATTCTTTTGAACCTGCCTGGATAACCCAGGACAATTTCCTGATCTCAGGGTTCTAGATCCTAATCACATCTGCACAGTTCCTTTGTCCGTGTAAGG... | pathogenic | 256,400 |
Evaluate this variant at chromosome 16, position 84172242, gene DNAAF1 (dynein axonemal assembly factor 1): benign or pathogenic? If pathogenic, what are the disease connection(s)? | benign | AAAGGAGAGGATGGAGATCAAGAGCCAGAGGGGACCCTCCCAGCTGAGACCCTGCTACTGTCACCGCCTGTGAAGGTTAAAGGAGAGGATGGAGATCGAGAGCCAGAGGGGACCCTCCCAGCTGAGGCCCCACCACCACCGCCCCTGGGAGCTGCCAGGGAAGGTAATGTGAGCGGAGAAACACACACAGACACACACACCTCTCAGGGAGCCCCAGCCTTCGACTCACGTCTCTGTGGGACCTGGGGCCTGAGTTTCACTTCTTCTGTATTGCTGTTTCTAGAAGATAATGGACACTAGTTATCTTGTTTTCTAGAACA... | AAAGGAGAGGATGGAGATCAAGAGCCAGAGGGGACCCTCCCAGCTGAGACCCTGCTACTGTCACCGCCTGTGAAGGTTAAAGGAGAGGATGGAGATCGAGAGCCAGAGGGGACCCTCCCAGCTGAGGCCCCACCACCACCGCCCCTGGGAGCTGCCAGGGAAGGTAATGTGAGCGGAGAAACACACACAGACACACACACCTCTCAGGGAGCCCCAGCCTTCGACTCACGTCTCTGTGGGACCTGGGGCCTGAGTTTCACTTCTTCTGTATTGCTGTTTCTAGAAGATAATGGACACTAGTTATCTTGTTTTCTAGAACA... | benign | 256,411 |
Considering the genetic mutation at chromosome 16, position 86568248, impacting FOXC2 (forkhead box C2): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Distichiasis-lymphedema_syndrome', 'Non-immune_hydrops_fetalis'] | GCTGCCTGGCTCCTCGGCGGGGAGCGAGGGAAACTCAGTTTGTAGGGTTTACCTCTAAAACCTCGATAGGTTATCCTTGACGACCCCGAGCCTGGAAACTCCCTGTTGATGATTAATTATTTGATTAAATAAGTATAACATCCAGGAGAGGCCCTGCCATTCCAATCCAGCGCGTTTGCTTTGAATCCATTACACCTGGGCCCCCATAATTAGGAAATCTAATTATTCGCTTCATCACTCATTAATAAGAAAAATGTCCCAGGATCATTGCTACTTACAAGGTCTTTGGGAGAGATATTTTACTCTATTAATCCATTCTA... | GCTGCCTGGCTCCTCGGCGGGGAGCGAGGGAAACTCAGTTTGTAGGGTTTACCTCTAAAACCTCGATAGGTTATCCTTGACGACCCCGAGCCTGGAAACTCCCTGTTGATGATTAATTATTTGATTAAATAAGTATAACATCCAGGAGAGGCCCTGCCATTCCAATCCAGCGCGTTTGCTTTGAATCCATTACACCTGGGCCCCCATAATTAGGAAATCTAATTATTCGCTTCATCACTCATTAATAAGAAAAATGTCCCAGGATCATTGCTACTTACAAGGTCTTTGGGAGAGATATTTTACTCTATTAATCCATTCTA... | pathogenic | 256,544 |
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