single nucleotide variant | NM_000051.4(ATM):c.3994-2A>G | ATM | Likely pathogenic | 11 | 108158325 | 108158325 | A | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA167657 |
single nucleotide variant | NM_000051.4(ATM):c.6095+1G>A | ATM | Likely pathogenic | 11 | 108186639 | 108186639 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA164796 |
single nucleotide variant | NM_000051.4(ATM):c.7181C>T (p.Ser2394Leu) | ATM | Likely pathogenic | 11 | 108199839 | 108199839 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA286966 |
Deletion | NM_000022.4(ADA):c.479-2del | ADA | Likely pathogenic | 20 | 43252972 | 43252972 | CT | C | criteria provided, single submitter | - |
single nucleotide variant | NM_000022.4(ADA):c.44A>T (p.His15Leu) | ADA | Likely pathogenic | 20 | 43264919 | 43264919 | T | A | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_000022.4(ADA):c.478+6T>C | ADA | Likely pathogenic | 20 | 43254204 | 43254204 | A | G | criteria provided, single submitter | ClinVar:624582 |
single nucleotide variant | NM_000022.4(ADA):c.219-1G>A | ADA | Likely pathogenic | 20 | 43255241 | 43255241 | C | T | criteria provided, single submitter | - |
single nucleotide variant | NM_000022.4(ADA):c.603C>G (p.Tyr201Ter) | ADA | Likely pathogenic | 20 | 43252846 | 43252846 | G | C | criteria provided, single submitter | - |
single nucleotide variant | NM_000022.4(ADA):c.1078+2T>A | ADA | Likely pathogenic | 20 | 43248938 | 43248938 | A | T | criteria provided, single submitter | - |
single nucleotide variant | NM_000022.4(ADA):c.218+1G>A | ADA | Likely pathogenic | 20 | 43257687 | 43257687 | C | T | criteria provided, multiple submitters, no conflicts | - |