"Ambry Genetics"[submitter] AND "RBMXL2"[gene] - ClinVar

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Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2349212	NM_014469.5(RBMXL2):c.11C>G (p.Ala4Gly)	RBMXL2, NLRP14 (A4G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2389103	NM_014469.5(RBMXL2):c.226G>A (p.Gly76Ser)	NLRP14, RBMXL2 (G76S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2263334	NM_014469.5(RBMXL2):c.283G>T (p.Gly95Cys)	NLRP14, RBMXL2 (G95C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2230377	NM_014469.5(RBMXL2):c.299G>C (p.Arg100Pro)	RBMXL2, NLRP14 (R100P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2204644	NM_014469.5(RBMXL2):c.370C>G (p.Arg124Gly)	NLRP14, RBMXL2 (R124G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2285241	NM_014469.5(RBMXL2):c.383A>T (p.Asp128Val)	NLRP14, RBMXL2 (D128V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2259487	NM_014469.5(RBMXL2):c.419G>A (p.Arg140Gln)	NLRP14, RBMXL2 (R140Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2602801	NM_014469.5(RBMXL2):c.493G>A (p.Ala165Thr)	NLRP14, RBMXL2 (A165T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2275921	NM_014469.5(RBMXL2):c.494C>T (p.Ala165Val)	RBMXL2, NLRP14 (A165V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2546090	NM_014469.5(RBMXL2):c.523G>C (p.Gly175Arg)	NLRP14, RBMXL2 (G175R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2261840	NM_014469.5(RBMXL2):c.533G>A (p.Arg178His)	RBMXL2, NLRP14 (R178H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2457671	NM_014469.5(RBMXL2):c.580C>A (p.Pro194Thr)	NLRP14, RBMXL2 (P194T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2397498	NM_014469.5(RBMXL2):c.610G>A (p.Asp204Asn)	NLRP14, RBMXL2 (D204N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2241450	NM_014469.5(RBMXL2):c.665G>C (p.Ser222Thr)	RBMXL2, NLRP14 (S222T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2288236	NM_014469.5(RBMXL2):c.677G>A (p.Arg226His)	RBMXL2, NLRP14 (R226H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2489163	NM_014469.5(RBMXL2):c.686G>A (p.Arg229Gln)	NLRP14, RBMXL2 (R229Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2520821	NM_014469.5(RBMXL2):c.811G>A (p.Gly271Arg)	NLRP14, RBMXL2 (G271R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2550012	NM_014469.5(RBMXL2):c.935G>A (p.Arg312Gln)	NLRP14, RBMXL2 (R312Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2540658	NM_014469.5(RBMXL2):c.941A>G (p.Tyr314Cys)	NLRP14, RBMXL2 (Y314C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2261282	NM_014469.5(RBMXL2):c.1049T>C (p.Leu350Pro)	RBMXL2, NLRP14 (L350P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2343922	NM_014469.5(RBMXL2):c.1052C>G (p.Ser351Cys)	RBMXL2, NLRP14 (S351C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2475829	NM_014469.5(RBMXL2):c.1055T>A (p.Leu352Gln)	RBMXL2, NLRP14 (L352Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2224039	NM_014469.5(RBMXL2):c.1151A>G (p.Glu384Gly)	NLRP14, RBMXL2 (E384G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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Items: 23