Deletion | NM_000444.6(PHEX):c.2138del (p.Pro713fs) | PHEX | Likely pathogenic | X | 22263513 | 22263513 | TC | T | criteria provided, single submitter | ClinGen:CA16621342 |
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.2197T>C (p.Cys733Arg) | PHEX | Pathogenic | X | 22266017 | 22266017 | T | C | criteria provided, single submitter | ClinGen:CA16621344 |
single nucleotide variant | NM_000444.6(PHEX):c.312T>G (p.Tyr104Ter) | PHEX | Pathogenic | X | 22065292 | 22065292 | T | G | criteria provided, single submitter | ClinGen:CA412567767 |
single nucleotide variant | NM_000444.6(PHEX):c.611T>A (p.Ile204Asn) | PHEX | Likely pathogenic | X | 22095768 | 22095768 | T | A | criteria provided, single submitter | ClinGen:CA412571603 |
single nucleotide variant | NM_000444.6(PHEX):c.1645+5G>C | PHEX | Likely pathogenic | X | 22208624 | 22208624 | G | C | criteria provided, single submitter | ClinGen:CA645293924 |
single nucleotide variant | NM_000444.6(PHEX):c.1809G>A (p.Trp603Ter) | PHEX | Pathogenic | X | 22239770 | 22239770 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA412573594 |
single nucleotide variant | NM_000444.6(PHEX):c.1880G>A (p.Trp627Ter) | PHEX | Pathogenic | X | 22239841 | 22239841 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA412573880 |
single nucleotide variant | NM_000444.6(PHEX):c.118+1G>T | PHEX | Pathogenic | X | 22051242 | 22051242 | G | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA412564385 |
single nucleotide variant | NM_000444.6(PHEX):c.664-2A>C | PHEX | Likely pathogenic | X | 22108545 | 22108545 | A | C | criteria provided, single submitter | ClinGen:CA412571986 |