Duplication | NM_000444.6(PHEX):c.1768+2dup | PHEX | Likely pathogenic | X | 22237221 | 22237222 | G | GT | criteria provided, single submitter | ClinGen:CA16043312 |
single nucleotide variant | NM_000444.6(PHEX):c.1736G>A (p.Gly579Glu) | PHEX | Likely pathogenic | X | 22237188 | 22237188 | G | A | criteria provided, single submitter | ClinGen:CA16608397 |
single nucleotide variant | NM_000444.6(PHEX):c.1739A>G (p.His580Arg) | PHEX | Likely pathogenic | X | 22237191 | 22237191 | A | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA16608818 |
single nucleotide variant | NM_000444.6(PHEX):c.1768+5G>T | PHEX | Likely pathogenic | X | 22237225 | 22237225 | G | T | criteria provided, single submitter | ClinGen:CA16609167 |
single nucleotide variant | NM_000444.6(PHEX):c.2061T>G (p.Ser687Arg) | PHEX | Likely pathogenic | X | 22245719 | 22245719 | T | G | criteria provided, single submitter | ClinGen:CA16621338 |
single nucleotide variant | NM_000444.6(PHEX):c.2077T>C (p.Cys693Arg) | PHEX | Likely pathogenic | X | 22263456 | 22263456 | T | C | criteria provided, single submitter | ClinGen:CA16621339 |
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 |
Deletion | NM_000444.6(PHEX):c.2138del (p.Pro713fs) | PHEX | Likely pathogenic | X | 22263513 | 22263513 | TC | T | criteria provided, single submitter | ClinGen:CA16621342 |
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 |