"Fulgent Genetics, Fulgent Genetics"[submitter] AND "PTCHD1-AS"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 368169	NM_000444.6(PHEX):c.1655C>T (p.Ala552Val)	PTCHD1-AS, PHEX (A552V)	Single nucleotide variant (missense variant)	Familial X-linked hypophosphatemic vitamin D refractory rickets	GUncertain significance
Select item 226119	NM_000444.6(PHEX):c.1735G>A (p.Gly579Arg)	PHEX, PTCHD1-AS (G579R)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1043581	NM_000444.6(PHEX):c.1876T>C (p.Tyr626His)	PHEX, PTCHD1-AS (Y626H)	Single nucleotide variant (missense variant)	Familial X-linked hypophosphatemic vitamin D refractory rickets +1 more	GUncertain significance
Select item 799779	NM_000444.6(PHEX):c.1966-10C>G	PHEX, PTCHD1-AS	Single nucleotide variant (non-coding transcript variant +1 more)	Familial X-linked hypophosphatemic vitamin D refractory rickets +1 more	GLikely benign
Select item 280420	NM_000444.6(PHEX):c.2193del (p.Phe731fs)	PHEX, PTCHD1-AS (F731fs)	Deletion (frameshift variant +1 more)	Familial X-linked hypophosphatemic vitamin D refractory rickets +1 more	GPathogenic/Likely pathogenic
Select item 279873	NM_000444.6(PHEX):c.2239C>T (p.Arg747Ter)	PHEX, PTCHD1-AS (R747*)	Single nucleotide variant (nonsense +1 more)	Autosomal dominant hypophosphatemic rickets +2 more	GPathogenic/Likely pathogenic

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