single nucleotide variant | NM_000444.6(PHEX):c.263G>A (p.Trp88Ter) | PHEX | Pathogenic | X | 22065243 | 22065243 | G | A | criteria provided, multiple submitters, no conflicts | - |
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.318G>A (p.Trp106Ter) | PHEX | Pathogenic/Likely pathogenic | X | 22065298 | 22065298 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA260508 |
single nucleotide variant | NM_000444.6(PHEX):c.349+1G>C | PHEX | Likely pathogenic | X | 22065330 | 22065330 | G | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA260510 |
Deletion | NC_000023.10:g.(22065330_22094505)_(22095821_22108546)del | PHEX | Pathogenic | X | 22065330 | 22108546 | na | na | criteria provided, single submitter | - |
single nucleotide variant | NM_000444.6(PHEX):c.397C>T (p.Gln133Ter) | PHEX | Pathogenic | X | 22094553 | 22094553 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA412571122 |
single nucleotide variant | NM_000444.6(PHEX):c.415T>A (p.Tyr139Asn) | PHEX | Pathogenic | X | 22094571 | 22094571 | T | A | criteria provided, single submitter | ClinGen:CA412571162 |
single nucleotide variant | NM_000444.6(PHEX):c.419C>G (p.Ser140Ter) | PHEX | Pathogenic | X | 22094575 | 22094575 | C | G | criteria provided, single submitter | ClinGen:CA16621308 |
Deletion | NM_000444.6(PHEX):c.424del (p.Cys142fs) | PHEX | Pathogenic | X | 22094580 | 22094580 | CT | C | criteria provided, single submitter | ClinGen:CA645509371 |
single nucleotide variant | NM_000444.6(PHEX):c.426C>A (p.Cys142Ter) | PHEX | Pathogenic | X | 22094582 | 22094582 | C | A | criteria provided, single submitter | ClinGen:CA16043220 |