"Ambry Genetics"[submitter] AND "RAX"[gene] - ClinVar

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Items: 37

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 889804	NM_013435.3(RAX):c.998A>G (p.Lys333Arg)	RAX (K333R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2206418	NM_013435.3(RAX):c.967A>G (p.Ser323Gly)	RAX (S323G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2263208	NM_013435.3(RAX):c.917G>T (p.Gly306Val)	RAX (G306V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2400844	NM_013435.3(RAX):c.916G>A (p.Gly306Arg)	RAX (G306R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3313015	NM_013435.3(RAX):c.910C>T (p.Pro304Ser)	RAX (P304S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2306832	NM_013435.3(RAX):c.874G>A (p.Gly292Ser)	RAX (G292S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2534519	NM_013435.3(RAX):c.867G>C (p.Leu289Phe)	RAX (L289F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3152015	NM_013435.3(RAX):c.862C>T (p.Pro288Ser)	RAX (P288S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2493426	NM_013435.3(RAX):c.857C>G (p.Ser286Cys)	RAX (S286C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2493425	NM_013435.3(RAX):c.856T>A (p.Ser286Thr)	RAX (S286T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3152014	NM_013435.3(RAX):c.838C>A (p.Pro280Thr)	RAX (P280T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 959738	NM_013435.3(RAX):c.800C>T (p.Ala267Val)	RAX (A267V)	Single nucleotide variant (missense variant)	Isolated microphthalmia 3 +1 more	GUncertain significance
Select item 2594860	NM_013435.3(RAX):c.736G>C (p.Gly246Arg)	LOC130062601, RAX (G246R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3313014	NM_013435.3(RAX):c.703G>A (p.Ala235Thr)	LOC130062601, RAX (A235T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3152011	NM_013435.3(RAX):c.697G>C (p.Gly233Arg)	LOC130062601, RAX (G233R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2241986	NM_013435.3(RAX):c.683C>G (p.Pro228Arg)	LOC130062601, RAX (P228R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2290584	NM_013435.3(RAX):c.680G>A (p.Gly227Asp)	LOC130062601, RAX (G227D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2227873	NM_013435.3(RAX):c.511G>C (p.Gly171Arg)	RAX (G171R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2284080	NM_013435.3(RAX):c.449A>G (p.Glu150Gly)	RAX (E150G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3313013	NM_013435.3(RAX):c.329G>A (p.Arg110Gln)	RAX (R110Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1363557	NM_013435.3(RAX):c.286G>C (p.Glu96Gln)	RAX (E96Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3152009	NM_013435.3(RAX):c.269C>A (p.Ala90Glu)	RAX (A90E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2470152	NM_013435.3(RAX):c.257C>A (p.Pro86Gln)	RAX (P86Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 889182	NM_013435.3(RAX):c.215C>G (p.Ala72Gly)	RAX (A72G)	Single nucleotide variant (missense variant)	Isolated microphthalmia 3 +2 more	GUncertain significance
Select item 2492573	NM_013435.3(RAX):c.188G>C (p.Arg63Pro)	RAX (R63P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2387062	NM_013435.3(RAX):c.184G>A (p.Glu62Lys)	RAX (E62K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2410795	NM_013435.3(RAX):c.170C>T (p.Ala57Val)	RAX (A57V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3152008	NM_013435.3(RAX):c.161A>G (p.Glu54Gly)	RAX (E54G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2547271	NM_013435.3(RAX):c.158C>G (p.Ala53Gly)	RAX (A53G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2275920	NM_013435.3(RAX):c.145G>A (p.Gly49Ser)	RAX (G49S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3152007	NM_013435.3(RAX):c.140T>A (p.Ile47Asn)	RAX (I47N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2321674	NM_013435.3(RAX):c.139A>T (p.Ile47Phe)	RAX (I47F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2222492	NM_013435.3(RAX):c.136G>A (p.Gly46Arg)	RAX (G46R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3152013	NM_013435.3(RAX):c.80G>C (p.Gly27Ala)	RAX (G27A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3152012	NM_013435.3(RAX):c.72C>A (p.Ser24Arg)	RAX (S24R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2609881	NM_013435.3(RAX):c.55G>A (p.Gly19Ser)	RAX (G19S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3152010	NM_013435.3(RAX):c.37G>A (p.Gly13Arg)	RAX (G13R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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Items: 37