Related gene-specific medical variations for Gene (Select 9852) - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3276034	NM_014805.4(EPM2AIP1):c.128G>A (p.Arg43His)	EPM2AIP1, LOC129936471 (R43H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3276033	NM_014805.4(EPM2AIP1):c.433T>G (p.Leu145Val)	EPM2AIP1, LOC129936470 (L145V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089739	NM_014805.4(EPM2AIP1):c.513C>A (p.Asp171Glu)	EPM2AIP1, LOC129936470 (D171E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089737	NM_014805.4(EPM2AIP1):c.418C>G (p.Leu140Val)	EPM2AIP1, LOC129936470 (L140V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089736	NM_014805.4(EPM2AIP1):c.167G>A (p.Arg56His)	EPM2AIP1, LOC129936471 (R56H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3050922	NC_000003.12:g.36993130A>C	EPM2AIP1, LOC129936471 +1 more	Single nucleotide variant (5 prime UTR variant)	MLH1-related disorder	GLikely benign
Select item 3033191	NC_000003.12:g.36993124G>A	EPM2AIP1, LOC129936471 +1 more	Single nucleotide variant (5 prime UTR variant)	MLH1-related disorder	GLikely benign
Select item 2616476	NM_014805.4(EPM2AIP1):c.467G>A (p.Ser156Asn)	EPM2AIP1, LOC129936470 (S156N)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2597911	NM_014805.4(EPM2AIP1):c.362T>C (p.Val121Ala)	EPM2AIP1, LOC129936470 (V121A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518929	NM_014805.4(EPM2AIP1):c.513C>G (p.Asp171Glu)	EPM2AIP1, LOC129936470 (D171E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518927	NM_014805.4(EPM2AIP1):c.487A>C (p.Asn163His)	EPM2AIP1, LOC129936470 (N163H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307922	NM_014805.4(EPM2AIP1):c.520G>A (p.Ala174Thr)	EPM2AIP1, LOC129936470 (A174T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303515	NM_014805.4(EPM2AIP1):c.4T>C (p.Trp2Arg)	EPM2AIP1, LOC129936471 (W2R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260294	NM_014805.4(EPM2AIP1):c.493C>T (p.Leu165Phe)	EPM2AIP1, LOC129936470 (L165F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245999	NM_014805.4(EPM2AIP1):c.26A>G (p.Lys9Arg)	EPM2AIP1, LOC129936471 (K9R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217611	NM_014805.4(EPM2AIP1):c.548C>T (p.Ala183Val)	EPM2AIP1, LOC129936470 (A183V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2183337	NC_000003.12:g.36993071T>C	EPM2AIP1, LOC129936471 +1 more (M3V)	Single nucleotide variant (missense variant)	Hereditary nonpolyposis colorectal neoplasms	GUncertain significance
Select item 1183730	NC_000003.12:g.36992955G>C	EPM2AIP1, LOC129936471 +1 more	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 787011	NM_014805.4(EPM2AIP1):c.385C>T (p.Leu129=)	EPM2AIP1, LOC129936470	Single nucleotide variant (synonymous variant)	not provided	GBenign