single nucleotide variant | NM_000377.3(WAS):c.91G>A (p.Glu31Lys) | WAS | Pathogenic/Likely pathogenic | X | 48542333 | 48542333 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA412865672 |
single nucleotide variant | NM_000377.3(WAS):c.271C>T (p.Gln91Ter) | WAS | Pathogenic | X | 48542810 | 48542810 | C | T | criteria provided, single submitter | ClinGen:CA412866685 |
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.553C>T (p.Gln185Ter) | WAS | Likely pathogenic | X | 48544517 | 48544517 | C | T | criteria provided, single submitter | ClinGen:CA412869529 |
single nucleotide variant | NM_000377.3(WAS):c.290G>A (p.Trp97Ter) | WAS | Likely pathogenic | X | 48543952 | 48543952 | G | A | criteria provided, single submitter | ClinGen:CA412866888 |
Deletion | NM_000377.3(WAS):c.852del (p.Glu285fs) | WAS | Likely pathogenic | X | 48546762 | 48546762 | GC | G | criteria provided, single submitter | ClinGen:CA658684301 |
single nucleotide variant | NM_000377.3(WAS):c.413G>C (p.Arg138Pro) | WAS | Pathogenic | X | 48544175 | 48544175 | G | C | criteria provided, single submitter | ClinGen:CA412867848 |
Deletion | NM_000377.3(WAS):c.1058del (p.Pro353fs) | WAS | Pathogenic | X | 48547171 | 48547171 | AC | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA516356341 |
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.778-6G>A | WAS | Pathogenic | X | 48546683 | 48546683 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA658658985 |