single nucleotide variant | NM_000444.6(PHEX):c.151C>T (p.Gln51Ter) | PHEX | Pathogenic | X | 22056619 | 22056619 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA16621305 |
Deletion | NM_000444.6(PHEX):c.152_162del (p.Gln51fs) | PHEX | Pathogenic | X | 22056619 | 22056629 | ACAGGAGTACTG | A | criteria provided, single submitter | ClinGen:CA16621306 |
single nucleotide variant | NM_000444.6(PHEX):c.154G>T (p.Glu52Ter) | PHEX | Pathogenic | X | 22056622 | 22056622 | G | T | criteria provided, single submitter | ClinGen:CA10603623 |
single nucleotide variant | NM_000444.6(PHEX):c.181G>T (p.Glu61Ter) | PHEX | Pathogenic | X | 22056649 | 22056649 | G | T | criteria provided, single submitter | ClinGen:CA412566013 |
Deletion | NM_000444.6(PHEX):c.187+1del | PHEX | Pathogenic | X | 22056654 | 22056654 | CG | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA645509370 |
single nucleotide variant | NM_000444.6(PHEX):c.187+1G>T | PHEX | Pathogenic | X | 22056656 | 22056656 | G | T | criteria provided, single submitter | ClinGen:CA412566073 |
single nucleotide variant | NM_000444.6(PHEX):c.187+1G>A | PHEX | Pathogenic | X | 22056656 | 22056656 | G | A | criteria provided, single submitter | ClinGen:CA412566068 |
single nucleotide variant | NM_000444.6(PHEX):c.230G>T (p.Cys77Phe) | PHEX | Pathogenic | X | 22065210 | 22065210 | G | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA412567578 |
single nucleotide variant | NM_000444.6(PHEX):c.253T>C (p.Cys85Arg) | PHEX | Pathogenic | X | 22065233 | 22065233 | T | C | criteria provided, single submitter | ClinGen:CA412567630 |
single nucleotide variant | NM_000444.6(PHEX):c.254G>A (p.Cys85Tyr) | PHEX | Pathogenic | X | 22065234 | 22065234 | G | A | criteria provided, single submitter | UniProtKB:P78562#VAR_006739,OMIM:300550.0005,ClinGen:CA255559 |