single nucleotide variant | NM_000377.3(WAS):c.1453G>A (p.Asp485Asn) | WAS | Pathogenic | X | 48547823 | 48547823 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA16621420 |
Duplication | NM_000377.3(WAS):c.1271dup (p.Leu425fs) | WAS | Pathogenic | X | 48547383 | 48547384 | C | CG | criteria provided, multiple submitters, no conflicts | ClinGen:CA658684302 |
Duplication | NM_000377.3(WAS):c.1219_1235dup (p.Pro413fs) | WAS | Pathogenic | X | 48547333 | 48547334 | T | TCCGGGAATGGACCAGCC | criteria provided, single submitter | ClinGen:CA16621419 |
Duplication | NM_000377.3(WAS):c.1183_1190dup (p.Pro398fs) | WAS | Pathogenic | X | 48547299 | 48547300 | A | ACCACCACC | criteria provided, single submitter | ClinGen:CA16043275 |
Duplication | NM_000377.3(WAS):c.1157dup (p.Gly387fs) | WAS | Pathogenic | X | 48547269 | 48547270 | A | AC | criteria provided, single submitter | ClinGen:CA10603599 |
Deletion | NM_000377.3(WAS):c.1058del (p.Pro353fs) | WAS | Pathogenic | X | 48547171 | 48547171 | AC | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA516356341 |
Deletion | NM_000377.3(WAS):c.1001del (p.Gly334fs) | WAS | Pathogenic | X | 48547113 | 48547113 | TG | T | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_000377.3(WAS):c.961C>T (p.Arg321Ter) | WAS | Pathogenic | X | 48547078 | 48547078 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA412872755 |
single nucleotide variant | NM_000377.3(WAS):c.881T>C (p.Ile294Thr) | WAS | Pathogenic/Likely pathogenic | X | 48546792 | 48546792 | T | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA281104,OMIM:300392.0025 |
Deletion | NM_000377.3(WAS):c.858del (p.Ser287fs) | WAS | Pathogenic | X | 48546768 | 48546768 | AC | A | criteria provided, single submitter | - |