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.19G>T (p.Gly7Ter) | WAS | Pathogenic | X | 48542261 | 48542261 | G | T | criteria provided, single submitter | ClinGen:CA16621415 |
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 |
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 |
Deletion | NM_000377.3(WAS):c.-37_132+35del | WAS | Pathogenic | X | 48542204 | 48542407 | ACCCAGAGCCTCGCCAGAGAAGACAAGGGCAGAAAGCACCATGAGTGGGGGCCCAATGGGAGGAAGGCCCGGGGGCCGAGGAGCACCAGCGGTTCAGCAGAACATACCCTCCACCCTCCTCCAGGACCACGAGAACCAGCGACTCTTTGAGATGCTTGGACGAAAATGCTTGGTGAGCTGGGGATCTCCTGCCCCCGCCCCGTCC | A | criteria provided, single submitter | - |
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 |
Indel | NM_000377.3(WAS):c.160_164delinsAACCTGGCGCTGCCCCC (p.Tyr54_Leu55delinsAsnLeuAlaLeuProPro) | WAS | Likely pathogenic | X | 48542699 | 48542703 | TACCT | AACCTGGCGCTGCCCCC | criteria provided, single submitter | ClinGen:CA658658984 |
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.173C>A (p.Pro58His) | WAS | Likely pathogenic | X | 48542712 | 48542712 | C | A | criteria provided, single submitter | ClinGen:CA16621416 |
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 |