C0733682[trait identifier] AND "Center for Genomic Medicine, King Fais - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2686039	NM_000444.6(PHEX):c.188-2A>C	PHEX	Single nucleotide variant (splice acceptor variant)	Familial X-linked hypophosphatemic vitamin D refractory rickets	GLikely pathogenic
Select item 948148	NM_000444.6(PHEX):c.208_212del (p.Val70fs)	PHEX (V70fs)	Microsatellite (frameshift variant)	not provided +1 more	GPathogenic
Select item 2686044	NM_000444.6(PHEX):c.292dup (p.Met98fs)	PHEX (M98fs)	Duplication (frameshift variant)	Familial X-linked hypophosphatemic vitamin D refractory rickets	GLikely pathogenic
Select item 378358	NM_000444.6(PHEX):c.436+4A>G	PHEX	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2686045	NM_000444.6(PHEX):c.846del (p.Glu283fs)	PHEX (E283fs)	Deletion (frameshift variant)	Familial X-linked hypophosphatemic vitamin D refractory rickets	GLikely pathogenic
Select item 372454	NM_000444.6(PHEX):c.871C>T (p.Arg291Ter)	PHEX (R291*)	Single nucleotide variant (nonsense)	Hypophosphatemic rickets +3 more	GConflicting classifications of pathogenicity
Select item 3065587	NM_000444.6(PHEX):c.887T>C (p.Met296Thr)	PHEX (M296T)	Single nucleotide variant (missense variant)	Familial X-linked hypophosphatemic vitamin D refractory rickets	GUncertain significance
Select item 2686041	NM_000444.6(PHEX):c.1174-10_1174-1del	PHEX	Deletion (splice acceptor variant)	Familial X-linked hypophosphatemic vitamin D refractory rickets	GLikely pathogenic
Select item 280196	NM_000444.6(PHEX):c.1241del (p.Leu414fs)	PHEX (L414fs)	Deletion (frameshift variant)	Familial X-linked hypophosphatemic vitamin D refractory rickets +1 more	GPathogenic/Likely pathogenic
Select item 2686046	NM_000444.6(PHEX):c.1318G>T (p.Glu440Ter)	PHEX (E440*)	Single nucleotide variant (nonsense)	Familial X-linked hypophosphatemic vitamin D refractory rickets	GLikely pathogenic
Select item 2686040	NM_000444.6(PHEX):c.1536T>G (p.Tyr512Ter)	PHEX (Y512*)	Single nucleotide variant (nonsense)	Familial X-linked hypophosphatemic vitamin D refractory rickets	GLikely 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 10822	NM_000444.6(PHEX):c.1699C>T (p.Arg567Ter)	PHEX, PTCHD1-AS (R567*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 2506512	NM_000444.6(PHEX):c.1701A>C (p.Arg567=)	PHEX, PTCHD1-AS	Single nucleotide variant (synonymous variant)	Familial X-linked hypophosphatemic vitamin D refractory rickets	GLikely pathogenic
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
Select item 279872	NM_000444.6(PHEX):c.2104C>T (p.Arg702Ter)	PHEX, PTCHD1-AS (R702*)	Single nucleotide variant (nonsense +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 2686054	NM_000444.6(PHEX):c.2148-10C>A	PHEX, PTCHD1-AS	Single nucleotide variant (intron variant)	Familial X-linked hypophosphatemic vitamin D refractory rickets	GUncertain significance
Select item 372465	NM_000444.6(PHEX):c.2237G>T (p.Cys746Phe)	PHEX, PTCHD1-AS (C746F)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GLikely 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