C0733682[trait identifier] AND "3billion"[submitter] - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 418405	NM_000444.6(PHEX):c.850-2A>G	PHEX	Single nucleotide variant (splice acceptor variant)	Familial X-linked hypophosphatemic vitamin D refractory rickets +1 more	GConflicting classifications of pathogenicity
Select item 961400	NM_000444.6(PHEX):c.934-2A>G	PHEX	Single nucleotide variant (splice acceptor variant)	Familial X-linked hypophosphatemic vitamin D refractory rickets +1 more	GPathogenic
Select item 1705589	NM_000444.6(PHEX):c.1217G>T (p.Cys406Phe)	PHEX (C406F)	Single nucleotide variant (missense variant)	Familial X-linked hypophosphatemic vitamin D refractory rickets	GLikely pathogenic
Select item 1687473	NM_000444.6(PHEX):c.1479dup (p.Ala494fs)	PHEX, PHEX-AS1 (A494fs)	Duplication (frameshift variant)	Familial X-linked hypophosphatemic vitamin D refractory rickets	GLikely pathogenic
Select item 418407	NM_000444.6(PHEX):c.1482+1G>A	PHEX, PHEX-AS1	Single nucleotide variant (splice donor variant)	Familial X-linked hypophosphatemic vitamin D refractory rickets +1 more	GPathogenic/Likely pathogenic
Select item 279870	NM_000444.6(PHEX):c.1645C>T (p.Arg549Ter)	PHEX (R549*)	Single nucleotide variant (nonsense)	Familial X-linked hypophosphatemic vitamin D refractory rickets +1 more	GPathogenic
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 1705285	NM_000444.6(PHEX):c.1861C>T (p.Gln621Ter)	PHEX, PTCHD1-AS (Q621*)	Single nucleotide variant (nonsense)	Familial X-linked hypophosphatemic vitamin D refractory rickets	GPathogenic
Select item 521768	NM_000444.6(PHEX):c.2040C>A (p.Asn680Lys)	PHEX, PTCHD1-AS (N680K)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1705687	NM_000444.6(PHEX):c.2248T>G (p.Ter750Glu)	PHEX, PTCHD1-AS	Single nucleotide variant (stop lost +1 more)	Familial X-linked hypophosphatemic vitamin D refractory rickets	GUncertain significance