single nucleotide variant | NM_000377.3(WAS):c.223G>A (p.Val75Met) | WAS | Pathogenic | X | 48542762 | 48542762 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA10403870,UniProtKB:P42768#VAR_005828 |
single nucleotide variant | NM_000377.3(WAS):c.37C>T (p.Arg13Ter) | WAS | Pathogenic | X | 48542279 | 48542279 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA342897 |
Deletion | NM_000377.3(WAS):c.11del (p.Gly4fs) | WAS | Pathogenic | X | 48542249 | 48542249 | TG | T | criteria provided, single submitter | ClinGen:CA341015,OMIM:300392.0019 |
single nucleotide variant | NM_000377.3(WAS):c.134C>T (p.Thr45Met) | WAS | Pathogenic | X | 48542673 | 48542673 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA255728,UniProtKB:P42768#VAR_008106,OMIM:300392.0010 |
single nucleotide variant | NM_000377.3(WAS):c.167C>T (p.Ala56Val) | WAS | Pathogenic | X | 48542706 | 48542706 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA255723,UniProtKB:P42768#VAR_005827,OMIM:300392.0004 |
single nucleotide variant | NM_000377.3(WAS):c.257G>A (p.Arg86His) | WAS | Pathogenic | X | 48542796 | 48542796 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA341003,UniProtKB:P42768#VAR_005830,OMIM:300392.0003 |
single nucleotide variant | NM_000377.3(WAS):c.257G>C (p.Arg86Pro) | WAS | Likely pathogenic | X | 48542796 | 48542796 | G | C | criteria provided, single submitter | - |
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 |