Table 1 Non-synonymous exonic variants that matched with ClinVar with their clinical significance and disease associated
Chr | Pos | Ref | Alt | Gene | Clinical Significance from ClinVar | Disease associated |
|---|---|---|---|---|---|---|
11 | 108,098,555 | A | G | ATM | Conflicting interpretations of Pathogenicity | Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome |
11 | 108,159,732 | C | T | ATM | Benign / Likely Benign | Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome |
11 | 119,156,193 | C | T | CBL | Benign / Likely Benign | Rasopathy, Noonan-Like Syndrome Disorder |
12 | 49,434,409 | G | A | KMT2D | Benign | Kabuki syndrome |
1 | 45,797,401 | G | A | MUTYH | Conflicting interpretations of Pathogenicity | MYH-associated polypopsis, Hereditary cancer-predisposing syndrome |
1 | 45,797,914 | C | T | MUTYH | Pathogenic / Likely Pathogenic | MYH-associated polypopsis, Hereditary cancer-predisposing syndrome |
1 | 45,800,146 | C | T | MUTYH | Benign, Uncertain Significance | MYH-associated polypopsis, Hereditary cancer-predisposing syndrome |
1 | 45,800,167 | G | A | MUTYH | Benign, Uncertain Significance | MYH-associated polypopsis, Hereditary cancer-predisposing syndrome |
18 | 42,643,270 | G | T | SETBP1 | likely Benign | Schinzel-Giedion syndrome |
1 | 85,742,023 | C | A | BCL10 | Benign | Immunodeficiency 37 |
20 | 31,022,469 | G | A | ASXL1 | Benign | C-like syndrome |
22 | 23,654,017 | G | A | BCR | Uncertain Significance | ALL and AML |
4 | 106,158,550 | G | T | TET2 | Not provided | Â |
4 | 55,589,830 | A | G | KIT | Uncertain Significance | Gastrointestinal stroma tumor |
9 | 139,401,375 | C | T | NOTCH1 | Uncertain Significance | Adams-Oliver syndrome 5, Cardiovascular phenotype |
9 | 139,410,139 | T | C | NOTCH1 | Uncertain Significance | Adams-Oliver syndrome 5 |