single nucleotide variant | NM_000444.6(PHEX):c.2140C>T (p.Gln714Ter) | PHEX | Likely pathogenic | X | 22263519 | 22263519 | C | T | criteria provided, single submitter | - |
single nucleotide variant | NM_000444.6(PHEX):c.1875T>G (p.Tyr625Ter) | PHEX | Pathogenic/Likely pathogenic | X | 22239836 | 22239836 | T | G | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_000444.6(PHEX):c.1805G>A (p.Trp602Ter) | PHEX | Pathogenic | X | 22239766 | 22239766 | G | A | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_000444.6(PHEX):c.*231A>G | PHEX | Pathogenic/Likely pathogenic | X | 22266301 | 22266301 | A | G | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_000444.6(PHEX):c.1033C>T (p.Gln345Ter) | PHEX | Pathogenic | X | 22117223 | 22117223 | C | T | criteria provided, single submitter | - |
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 | - |
Deletion | NM_000444.6(PHEX):c.15_16del (p.Gly6fs) | PHEX | Pathogenic | X | 22051138 | 22051139 | CAG | C | criteria provided, multiple submitters, no conflicts | - |
Deletion | NM_000444.6(PHEX):c.2171_2172del (p.Asn723_Phe724insTer) | PHEX | Likely pathogenic | X | 22265990 | 22265991 | CTT | C | criteria provided, single submitter | - |
single nucleotide variant | NM_000444.6(PHEX):c.501G>A (p.Trp167Ter) | PHEX | Pathogenic | X | 22095658 | 22095658 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA412571357 |
copy number loss | GRCh37/hg19 Xp22.11(chrX:22108547-22108570)x1 | PHEX | Likely pathogenic | X | 22108547 | 22108570 | na | na | criteria provided, single submitter | - |