"Ambry Genetics"[submitter] AND "EPB41"[gene] - ClinVar

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Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2194273	NM_001376013.1(EPB41):c.731A>G (p.Asn244Ser)	EPB41 (N35S +1 more)	Single nucleotide variant (missense variant +1 more)	Elliptocytosis 1 +2 more	GUncertain significance
Select item 2483604	NM_001376013.1(EPB41):c.824T>C (p.Val275Ala)	EPB41 (V66A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2441246	NM_001376013.1(EPB41):c.832G>A (p.Val278Ile)	EPB41 (V243I +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2258454	NM_001376013.1(EPB41):c.860A>G (p.Lys287Arg)	EPB41 (K252R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2599276	NM_001376013.1(EPB41):c.950G>A (p.Arg317His)	EPB41 (R317H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2568729	NM_001376013.1(EPB41):c.997A>G (p.Ile333Val)	EPB41 (I124V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2045835	NM_001376013.1(EPB41):c.1039G>A (p.Val347Met)	EPB41 (V347M +2 more)	Single nucleotide variant (missense variant)	Elliptocytosis 1 +2 more	GUncertain significance
Select item 811463	NM_001376013.1(EPB41):c.1187A>G (p.Tyr396Cys)	EPB41 (Y187C +2 more)	Single nucleotide variant (missense variant)	Elliptocytosis 1 +1 more	GUncertain significance
Select item 3089364	NM_001376013.1(EPB41):c.1223G>C (p.Gly408Ala)	EPB41 (G408A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2441243	NM_001376013.1(EPB41):c.1441G>A (p.Val481Ile)	EPB41 (V272I +2 more)	Single nucleotide variant (missense variant)	Elliptocytosis 1 +1 more	GUncertain significance
Select item 1163135	NM_001376013.1(EPB41):c.1505C>T (p.Ala502Val)	EPB41 (A293V +2 more)	Single nucleotide variant (missense variant)	Elliptocytosis 1 +2 more	GUncertain significance
Select item 2493921	NM_001376013.1(EPB41):c.1637C>T (p.Ala546Val)	EPB41 (A337V +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2317389	NM_001376013.1(EPB41):c.1684C>T (p.Pro562Ser)	EPB41 (P562S +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1330981	NM_001376013.1(EPB41):c.1700G>A (p.Gly567Asp)	EPB41 (G357D +4 more)	Single nucleotide variant (missense variant)	Elliptocytosis 1 +2 more	GConflicting classifications of pathogenicity
Select item 2304069	NM_001376013.1(EPB41):c.1724T>C (p.Leu575Pro)	EPB41 (L366P +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2252727	NM_001376013.1(EPB41):c.1796A>G (p.Glu599Gly)	EPB41 (E598G +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1938054	NM_001376013.1(EPB41):c.2030A>G (p.Glu677Gly)	EPB41 (E413G +11 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2543005	NM_001376013.1(EPB41):c.2138C>T (p.Pro713Leu)	EPB41 (P449L +11 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2296366	NM_001376013.1(EPB41):c.2153A>T (p.Asn718Ile)	EPB41 (N476I +11 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2387601	NM_001376013.1(EPB41):c.2231A>G (p.Asn744Ser)	EPB41 (N481S +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3089361	NM_001376013.1(EPB41):c.2263G>A (p.Val755Ile)	EPB41 (V513I +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3089362	NM_001376013.1(EPB41):c.2305G>A (p.Ala769Thr)	EPB41 (A546T +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1693853	NM_001376013.1(EPB41):c.2443C>T (p.Arg815Cys)	EPB41 (R539C +7 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 3089363	NM_001376013.1(EPB41):c.2459T>C (p.Ile820Thr)	EPB41 (I597T +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2204927	NM_001376013.1(EPB41):c.2480A>C (p.Asp827Ala)	EPB41 (D604A +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2488107	NM_001376013.1(EPB41):c.2482A>G (p.Ile828Val)	EPB41 (I828V +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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Items: 26