C0733682[trait identifier] AND "Baylor Genetics"[submitter] - ClinVar

Format

Sort by

Choose Destination

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 689777	NM_000444.6(PHEX):c.733-1G>C	PHEX	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GPathogenic
Select item 10822	NM_000444.6(PHEX):c.1699C>T (p.Arg567Ter)	PTCHD1-AS, PHEX (R567*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 1029848	NM_000444.6(PHEX):c.1966-1G>T	PHEX, PTCHD1-AS	Single nucleotide variant (non-coding transcript variant +1 more)	Familial X-linked hypophosphatemic vitamin D refractory rickets	GPathogenic/Likely pathogenic

Format

Sort by

Choose Destination

ClinVar