"Institute of Human Genetics, Cologne University"[submitter] AND "PTCH - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Format

Sort by

Choose Destination

Search results

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1275756	NM_000444.6(PHEX):c.2009A>T (p.Glu670Val)	PHEX, PTCHD1-AS (E670V)	Single nucleotide variant (non-coding transcript variant +1 more)	Familial X-linked hypophosphatemic vitamin D refractory rickets	GUncertain significance
Select item 3024184	NM_000444.6(PHEX):c.2150T>G (p.Val717Gly)	PHEX, PTCHD1-AS (V717G)	Single nucleotide variant (missense variant +1 more)	Familial X-linked hypophosphatemic vitamin D refractory rickets	GLikely pathogenic