Deletion | NM_000377.3(WAS):c.-37_132+35del | WAS | Pathogenic | X | 48542204 | 48542407 | ACCCAGAGCCTCGCCAGAGAAGACAAGGGCAGAAAGCACCATGAGTGGGGGCCCAATGGGAGGAAGGCCCGGGGGCCGAGGAGCACCAGCGGTTCAGCAGAACATACCCTCCACCCTCCTCCAGGACCACGAGAACCAGCGACTCTTTGAGATGCTTGGACGAAAATGCTTGGTGAGCTGGGGATCTCCTGCCCCCGCCCCGTCC | A | criteria provided, single submitter | - |
Deletion | NM_000377.3(WAS):c.858del (p.Ser287fs) | WAS | Pathogenic | X | 48546768 | 48546768 | AC | A | criteria provided, single submitter | - |
Indel | NM_000377.3(WAS):c.803delinsTT (p.Arg268fs) | WAS | Pathogenic | X | 48546714 | 48546714 | G | TT | criteria provided, single submitter | - |
Deletion | NM_000377.3(WAS):c.660_664del (p.Ser221_Pro222insTer) | WAS | Pathogenic | X | 48545268 | 48545272 | ACCTAG | A | criteria provided, single submitter | - |
single nucleotide variant | NM_000377.3(WAS):c.631C>T (p.Arg211Ter) | WAS | Pathogenic | X | 48545241 | 48545241 | C | T | criteria provided, multiple submitters, no conflicts | - |
Deletion | NM_000377.3(WAS):c.470_471del (p.Arg157fs) | WAS | Pathogenic | X | 48544340 | 48544341 | ACG | A | criteria provided, single submitter | - |
single nucleotide variant | NM_000377.3(WAS):c.355G>T (p.Gly119Ter) | WAS | Pathogenic | X | 48544017 | 48544017 | G | T | criteria provided, single submitter | - |
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.734+2T>A | WAS | Pathogenic | X | 48545346 | 48545346 | T | A | criteria provided, single submitter | - |
Deletion | NM_000377.3(WAS):c.1001del (p.Gly334fs) | WAS | Pathogenic | X | 48547113 | 48547113 | TG | T | criteria provided, multiple submitters, no conflicts | - |