"Fulgent Genetics, Fulgent Genetics"[submitter] AND "PHEX"[gene] - ClinVar

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Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 368158	NM_000444.6(PHEX):c.81C>T (p.Val27=)	PHEX	Single nucleotide variant (synonymous variant)	Familial X-linked hypophosphatemic vitamin D refractory rickets +1 more	GBenign/Likely benign
Select item 1166496	NM_000444.6(PHEX):c.82G>A (p.Gly28Ser)	PHEX (G28S)	Single nucleotide variant (missense variant)	Familial X-linked hypophosphatemic vitamin D refractory rickets +1 more	GBenign/Likely benign
Select item 948148	NM_000444.6(PHEX):c.208_212del (p.Val70fs)	PHEX (V70fs)	Microsatellite (frameshift variant)	Familial X-linked hypophosphatemic vitamin D refractory rickets +1 more	GPathogenic
Select item 1049289	NM_000444.6(PHEX):c.226C>G (p.Pro76Ala)	PHEX (P76A)	Single nucleotide variant (missense variant)	Familial X-linked hypophosphatemic vitamin D refractory rickets	GUncertain significance
Select item 754008	NM_000444.6(PHEX):c.249C>T (p.Phe83=)	PHEX	Single nucleotide variant (synonymous variant)	Familial X-linked hypophosphatemic vitamin D refractory rickets +1 more	GBenign/Likely benign
Select item 787516	NM_000444.6(PHEX):c.288A>G (p.Glu96=)	PHEX	Single nucleotide variant (synonymous variant)	Familial X-linked hypophosphatemic vitamin D refractory rickets +2 more	GBenign/Likely benign
Select item 1551108	NM_000444.6(PHEX):c.420A>G (p.Ser140=)	PHEX	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 735460	NM_000444.6(PHEX):c.440C>T (p.Ala147Val)	PHEX (A147V)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 727133	NM_000444.6(PHEX):c.441G>A (p.Ala147=)	PHEX	Single nucleotide variant (synonymous variant)	Familial X-linked hypophosphatemic vitamin D refractory rickets +1 more	GBenign/Likely benign
Select item 368161	NM_000444.6(PHEX):c.489A>G (p.Ser163=)	PHEX	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 522470	NM_000444.6(PHEX):c.501G>A (p.Trp167Ter)	PHEX (W167*)	Single nucleotide variant (nonsense)	Familial X-linked hypophosphatemic vitamin D refractory rickets +1 more	GPathogenic
Select item 913064	NM_000444.6(PHEX):c.653A>G (p.His218Arg)	PHEX (H218R)	Single nucleotide variant (missense variant)	Familial X-linked hypophosphatemic vitamin D refractory rickets	GLikely benign
Select item 372454	NM_000444.6(PHEX):c.871C>T (p.Arg291Ter)	PHEX (R291*)	Single nucleotide variant (nonsense)	Hypophosphatemic rickets +2 more	GPathogenic
Select item 742557	NM_000444.6(PHEX):c.996C>T (p.Asp332=)	PHEX	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 740831	NM_000444.6(PHEX):c.1008C>T (p.Ser336=)	PHEX	Single nucleotide variant (synonymous variant)	Familial X-linked hypophosphatemic vitamin D refractory rickets +1 more	GBenign/Likely benign
Select item 280503	NM_000444.6(PHEX):c.1080-1G>A	PHEX	Single nucleotide variant (splice acceptor variant)	Familial X-linked hypophosphatemic vitamin D refractory rickets +1 more	GPathogenic
Select item 733250	NM_000444.6(PHEX):c.1383G>A (p.Thr461=)	PHEX	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 713929	NM_000444.6(PHEX):c.1437A>G (p.Pro479=)	PHEX, PHEX-AS1	Single nucleotide variant (synonymous variant)	Familial X-linked hypophosphatemic vitamin D refractory rickets +1 more	GBenign/Likely benign
Select item 1623547	NM_000444.6(PHEX):c.1587-16G>T	PHEX	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
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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Items: 25