C0733682[trait identifier] AND "Institute of Human Genetics, Cologne U - ClinVar

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	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