Deletion | NM_000444.6(PHEX):c.508_529del (p.Leu170fs) | PHEX | Pathogenic | X | 22095663 | 22095684 | GTGCTTGAATCTAATATTGGCCC | G | criteria provided, single submitter | ClinGen:CA10603555 |
single nucleotide variant | NM_000444.6(PHEX):c.733-2A>T | PHEX | Pathogenic | X | 22112099 | 22112099 | A | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA10603557 |
single nucleotide variant | NM_000444.6(PHEX):c.733-1G>A | PHEX | Pathogenic | X | 22112100 | 22112100 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA10603559 |
Deletion | NM_000444.6(PHEX):c.847_849+2del | PHEX | Pathogenic | X | 22112214 | 22112218 | CTGAGG | C | criteria provided, single submitter | ClinGen:CA10603563 |
single nucleotide variant | NM_000444.6(PHEX):c.1080-1G>A | PHEX | Pathogenic | X | 22129584 | 22129584 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA10603569 |
single nucleotide variant | NM_000444.6(PHEX):c.1158G>A (p.Trp386Ter) | PHEX | Pathogenic | X | 22129663 | 22129663 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA10603574 |
single nucleotide variant | NM_000444.6(PHEX):c.1601C>T (p.Pro534Leu) | PHEX | Pathogenic | X | 22208575 | 22208575 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA10603575,UniProtKB:P78562#VAR_006744 |
single nucleotide variant | NM_000444.6(PHEX):c.1645+1G>A | PHEX | Pathogenic | X | 22208620 | 22208620 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA10603576 |
Duplication | NM_000444.6(PHEX):c.1800dup (p.Pro601fs) | PHEX | Pathogenic | X | 22239760 | 22239761 | A | AT | criteria provided, single submitter | ClinGen:CA10603577 |
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 |