Deletion | NM_000444.6(PHEX):c.2147+2_2147+9del | PHEX | Pathogenic | X | 22263526 | 22263533 | AGGTAAATG | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA16621343 |
single nucleotide variant | NM_000444.6(PHEX):c.2147+3A>T | PHEX | Pathogenic | X | 22263529 | 22263529 | A | T | criteria provided, single submitter | ClinGen:CA645509399 |
single nucleotide variant | NM_000444.6(PHEX):c.2147+1G>A | PHEX | Pathogenic | X | 22263527 | 22263527 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA10603578 |
single nucleotide variant | NM_000444.6(PHEX):c.2140C>T (p.Gln714Ter) | PHEX | Likely pathogenic | X | 22263519 | 22263519 | C | T | criteria provided, single submitter | - |
Deletion | NM_000444.6(PHEX):c.2138del (p.Pro713fs) | PHEX | Likely pathogenic | X | 22263513 | 22263513 | TC | T | criteria provided, single submitter | ClinGen:CA16621342 |
Duplication | NM_000444.6(PHEX):c.2138dup (p.Gln714fs) | PHEX | Pathogenic/Likely pathogenic | X | 22263512 | 22263513 | T | TC | criteria provided, multiple submitters, no conflicts | ClinGen:CA10603658 |
Deletion | NM_000444.6(PHEX):c.2118_2119del (p.Gln706fs) | PHEX | Pathogenic/Likely pathogenic | X | 22263496 | 22263497 | CAA | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA16621341 |
single nucleotide variant | NM_000444.6(PHEX):c.2104C>T (p.Arg702Ter) | PHEX | Pathogenic | X | 22263483 | 22263483 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA10603719 |
Deletion | NM_000444.6(PHEX):c.2093del (p.Pro698fs) | PHEX | Pathogenic | X | 22263471 | 22263471 | AC | A | criteria provided, single submitter | ClinGen:CA645509398 |
single nucleotide variant | NM_000444.6(PHEX):c.2079C>G (p.Cys693Trp) | PHEX | Likely pathogenic | X | 22263458 | 22263458 | C | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA16621340 |