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 |
single nucleotide variant | NM_000444.6(PHEX):c.1302+1G>T | PHEX | Likely pathogenic | X | 22132705 | 22132705 | G | T | criteria provided, single submitter | ClinGen:CA412573820 |
single nucleotide variant | NM_000444.6(PHEX):c.1723G>A (p.Gly575Arg) | PHEX | Likely pathogenic | X | 22237175 | 22237175 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA412575758 |
Deletion | NM_000444.6(PHEX):c.1966-9_1966-7del | PHEX | Likely pathogenic | X | 22245615 | 22245617 | CTCT | C | criteria provided, single submitter | ClinGen:CA645509396 |
copy number loss | GRCh37/hg19 Xp22.11(chrX:22108547-22108615)x0 | PHEX | Likely pathogenic | X | 22108547 | 22108615 | na | na | criteria provided, single submitter | - |
copy number loss | GRCh37/hg19 Xp22.11(chrX:22108547-22108570)x1 | PHEX | Likely pathogenic | X | 22108547 | 22108570 | na | na | criteria provided, single submitter | - |
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.2140C>T (p.Gln714Ter) | PHEX | Likely pathogenic | X | 22263519 | 22263519 | C | T | criteria provided, single submitter | - |
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 |
single nucleotide variant | NM_000444.6(PHEX):c.755T>C (p.Phe252Ser) | PHEX | Pathogenic | X | 22112123 | 22112123 | T | C | criteria provided, single submitter | ClinVar:10818,UniProtKB:P78562#VAR_006742,OMIM:300550.0006 |