"Ambry Genetics"[submitter] AND "EPM2AIP1"[gene] - ClinVar

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Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2287829	NM_014805.4(EPM2AIP1):c.1753C>T (p.Arg585Trp)	EPM2AIP1 (R585W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2612343	NM_014805.4(EPM2AIP1):c.1697G>A (p.Arg566Gln)	EPM2AIP1 (R566Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2397899	NM_014805.4(EPM2AIP1):c.1492T>C (p.Tyr498His)	EPM2AIP1 (Y498H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2554478	NM_014805.4(EPM2AIP1):c.1414G>C (p.Glu472Gln)	EPM2AIP1 (E472Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2219076	NM_014805.4(EPM2AIP1):c.902T>C (p.Ile301Thr)	EPM2AIP1 (I301T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2217611	NM_014805.4(EPM2AIP1):c.548C>T (p.Ala183Val)	LOC129936470, EPM2AIP1 (A183V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2307922	NM_014805.4(EPM2AIP1):c.520G>A (p.Ala174Thr)	EPM2AIP1, LOC129936470 (A174T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2518929	NM_014805.4(EPM2AIP1):c.513C>G (p.Asp171Glu)	EPM2AIP1, LOC129936470 (D171E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2260294	NM_014805.4(EPM2AIP1):c.493C>T (p.Leu165Phe)	EPM2AIP1, LOC129936470 (L165F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2518927	NM_014805.4(EPM2AIP1):c.487A>C (p.Asn163His)	EPM2AIP1, LOC129936470 (N163H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2616476	NM_014805.4(EPM2AIP1):c.467G>A (p.Ser156Asn)	EPM2AIP1, LOC129936470 (S156N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2597911	NM_014805.4(EPM2AIP1):c.362T>C (p.Val121Ala)	EPM2AIP1, LOC129936470 (V121A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2311300	NM_014805.4(EPM2AIP1):c.340G>A (p.Gly114Ser)	EPM2AIP1 (G114S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2612417	NM_014805.4(EPM2AIP1):c.307G>A (p.Gly103Arg)	EPM2AIP1 (G103R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2245611	NM_014805.4(EPM2AIP1):c.269C>T (p.Ser90Phe)	EPM2AIP1 (S90F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2323014	NM_014805.4(EPM2AIP1):c.253G>C (p.Asp85His)	EPM2AIP1 (D85H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2242491	NM_014805.4(EPM2AIP1):c.232G>T (p.Val78Leu)	EPM2AIP1 (V78L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2245999	NM_014805.4(EPM2AIP1):c.26A>G (p.Lys9Arg)	EPM2AIP1, LOC129936471 (K9R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2303515	NM_014805.4(EPM2AIP1):c.4T>C (p.Trp2Arg)	EPM2AIP1, LOC129936471 (W2R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 89588	NM_014805.3(EPM2AIP1):c.-202G>C	EPM2AIP1, MLH1	Single nucleotide variant	Lynch syndrome	GLikely benign

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Items: 20