Type | Name | Gene Symbol | Clinical Significance | Chromosome | Start | Stop | Reference Allele | Alternate Allele | Review Status | Other IDs |
---|---|---|---|---|---|---|---|---|---|---|
(GRCh37) | ||||||||||
Deletion | NM_000377.3(WAS):c.1058del (p.Pro353fs) | WAS | Pathogenic | X | 48547171 | 48547171 | AC | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA516356341 |
Duplication | NM_000377.3(WAS):c.1157dup (p.Gly387fs) | WAS | Pathogenic | X | 48547269 | 48547270 | A | AC | criteria provided, single submitter | ClinGen:CA10603599 |
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.1219_1235dup (p.Pro413fs) | WAS | Pathogenic | X | 48547333 | 48547334 | T | TCCGGGAATGGACCAGCC | criteria provided, single submitter | ClinGen:CA16621419 |
Duplication | NM_000377.3(WAS):c.1271dup (p.Leu425fs) | WAS | Pathogenic | X | 48547383 | 48547384 | C | CG | criteria provided, multiple submitters, no conflicts | ClinGen:CA658684302 |
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 |