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 |
Deletion | NM_000377.3(WAS):c.390del (p.Asp130fs) | WAS | Pathogenic | X | 48544152 | 48544152 | AC | A | criteria provided, single submitter | ClinGen:CA645294129 |
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.1219_1235dup (p.Pro413fs) | WAS | Pathogenic | X | 48547333 | 48547334 | T | TCCGGGAATGGACCAGCC | criteria provided, single submitter | ClinGen:CA16621419 |
single nucleotide variant | NM_000377.3(WAS):c.273+1G>A | WAS | Pathogenic | X | 48542813 | 48542813 | G | A | criteria provided, single submitter | ClinGen:CA16621418 |
single nucleotide variant | NM_000377.3(WAS):c.249C>A (p.Tyr83Ter) | WAS | Pathogenic | X | 48542788 | 48542788 | C | A | criteria provided, single submitter | ClinGen:CA16621417 |
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.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.360+1G>A | WAS | Pathogenic | X | 48544023 | 48544023 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA16609187 |
single nucleotide variant | NM_000377.3(WAS):c.360+1G>T | WAS | Pathogenic | X | 48544023 | 48544023 | G | T | criteria provided, single submitter | ClinGen:CA16608484 |