"Ambry Genetics"[submitter] AND "EPS8L1"[gene] - ClinVar

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Items: 71

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2519151	NM_133180.3(EPS8L1):c.19C>T (p.Pro7Ser)	EPS8L1 (P7S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523295	NM_133180.3(EPS8L1):c.97G>A (p.Val33Ile)	EPS8L1 (V33I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326093	NM_133180.3(EPS8L1):c.97G>T (p.Val33Leu)	EPS8L1 (V33L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476323	NM_133180.3(EPS8L1):c.119A>C (p.His40Pro)	EPS8L1 (H40P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221102	NM_133180.3(EPS8L1):c.128C>T (p.Thr43Met)	EPS8L1 (T43M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089931	NM_133180.3(EPS8L1):c.137T>C (p.Leu46Pro)	EPS8L1 (L46P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089936	NM_133180.3(EPS8L1):c.158A>G (p.His53Arg)	EPS8L1 (H53R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089938	NM_133180.3(EPS8L1):c.176C>G (p.Ser59Cys)	EPS8L1 (S59C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337289	NM_133180.3(EPS8L1):c.187G>A (p.Ala63Thr)	EPS8L1 (A63T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213328	NM_133180.3(EPS8L1):c.218C>T (p.Ala73Val)	EPS8L1 (A73V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089945	NM_133180.3(EPS8L1):c.238G>T (p.Val80Leu)	EPS8L1 (V80L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536285	NM_133180.3(EPS8L1):c.262C>T (p.Leu88Phe)	EPS8L1 (L88F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226760	NM_133180.3(EPS8L1):c.265G>A (p.Asp89Asn)	EPS8L1 (D89N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545557	NM_133180.3(EPS8L1):c.389C>T (p.Ala130Val)	EPS8L1 (A130V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342098	NM_133180.3(EPS8L1):c.416G>T (p.Gly139Val)	EPS8L1 (G139V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214305	NM_133180.3(EPS8L1):c.431C>T (p.Ala144Val)	EPS8L1 (A144V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513688	NM_133180.3(EPS8L1):c.437T>C (p.Leu146Pro)	EPS8L1 (L19P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204866	NM_133180.3(EPS8L1):c.458G>C (p.Gly153Ala)	EPS8L1 (G26A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306569	NM_133180.3(EPS8L1):c.467A>G (p.His156Arg)	EPS8L1 (H156R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408912	NM_133180.3(EPS8L1):c.468C>A (p.His156Gln)	EPS8L1 (H156Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369930	NM_133180.3(EPS8L1):c.478T>G (p.Ser160Ala)	EPS8L1 (S160A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089946	NM_133180.3(EPS8L1):c.500C>T (p.Ala167Val)	EPS8L1 (A167V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605160	NM_133180.3(EPS8L1):c.515C>T (p.Ala172Val)	EPS8L1 (A172V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089947	NM_133180.3(EPS8L1):c.551C>G (p.Ala184Gly)	EPS8L1 (A184G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516027	NM_133180.3(EPS8L1):c.583T>C (p.Ser195Pro)	EPS8L1 (S195P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289591	NM_133180.3(EPS8L1):c.584C>T (p.Ser195Leu)	EPS8L1 (S68L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311970	NM_133180.3(EPS8L1):c.592G>C (p.Ala198Pro)	EPS8L1 (A198P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233765	NM_133180.3(EPS8L1):c.595G>C (p.Val199Leu)	EPS8L1 (V199L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377210	NM_133180.3(EPS8L1):c.632G>T (p.Arg211Leu)	EPS8L1 (R211L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236716	NM_133180.3(EPS8L1):c.734G>A (p.Arg245Gln)	EPS8L1 (R118Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089948	NM_133180.3(EPS8L1):c.736G>C (p.Gly246Arg)	EPS8L1 (G119R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089949	NM_133180.3(EPS8L1):c.763G>A (p.Glu255Lys)	EPS8L1 (E128K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490227	NM_133180.3(EPS8L1):c.826C>G (p.Gln276Glu)	EPS8L1 (Q149E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2622617	NM_133180.3(EPS8L1):c.932C>T (p.Pro311Leu)	EPS8L1 (P311L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478678	NM_133180.3(EPS8L1):c.935C>T (p.Ser312Leu)	EPS8L1 (S185L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277260	NM_133180.3(EPS8L1):c.976G>C (p.Ala326Pro)	EPS8L1 (A326P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280160	NM_133180.3(EPS8L1):c.992C>T (p.Ala331Val)	EPS8L1 (A204V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384122	NM_133180.3(EPS8L1):c.1018C>T (p.Pro340Ser)	EPS8L1 (P213S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089927	NM_133180.3(EPS8L1):c.1177C>T (p.Leu393Phe)	EPS8L1 (L266F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089928	NM_133180.3(EPS8L1):c.1243C>T (p.Pro415Ser)	EPS8L1 (P288S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610191	NM_133180.3(EPS8L1):c.1249A>G (p.Arg417Gly)	EPS8L1 (R417G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242666	NM_133180.3(EPS8L1):c.1256A>C (p.Glu419Ala)	EPS8L1 (E292A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089929	NM_133180.3(EPS8L1):c.1285A>T (p.Thr429Ser)	EPS8L1 (T429S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538825	NM_133180.3(EPS8L1):c.1285A>G (p.Thr429Ala)	EPS8L1 (T302A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089930	NM_133180.3(EPS8L1):c.1343G>A (p.Arg448Gln)	EPS8L1 (R448Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407309	NM_133180.3(EPS8L1):c.1372G>A (p.Val458Ile)	EPS8L1 (V331I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292184	NM_133180.3(EPS8L1):c.1375G>A (p.Ala459Thr)	EPS8L1 (A459T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089932	NM_133180.3(EPS8L1):c.1424A>T (p.Glu475Val)	EPS8L1 (E348V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089934	NM_133180.3(EPS8L1):c.1475G>C (p.Arg492Pro)	EPS8L1 (R365P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321380	NM_133180.3(EPS8L1):c.1492T>C (p.Ser498Pro)	EPS8L1 (S371P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601858	NM_133180.3(EPS8L1):c.1535G>C (p.Arg512Pro)	EPS8L1 (R512P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541969	NM_133180.3(EPS8L1):c.1564G>A (p.Gly522Arg)	EPS8L1 (G395R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089935	NM_133180.3(EPS8L1):c.1586A>G (p.Tyr529Cys)	EPS8L1 (Y529C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252481	NM_133180.3(EPS8L1):c.1624C>T (p.His542Tyr)	EPS8L1 (H542Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555820	NM_133180.3(EPS8L1):c.1646G>A (p.Ser549Asn)	EPS8L1 (S422N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089937	NM_133180.3(EPS8L1):c.1672C>T (p.Pro558Ser)	EPS8L1 (P558S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371670	NM_133180.3(EPS8L1):c.1703T>C (p.Leu568Pro)	EPS8L1 (L441P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2570109	NM_133180.3(EPS8L1):c.1712C>A (p.Pro571His)	EPS8L1 (P571H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2411394	NM_133180.3(EPS8L1):c.1841C>T (p.Ser614Leu)	EPS8L1 (S487L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089939	NM_133180.3(EPS8L1):c.1855G>A (p.Ala619Thr)	EPS8L1 (A492T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330225	NM_133180.3(EPS8L1):c.1867C>T (p.Pro623Ser)	EPS8L1 (P496S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306994	NM_133180.3(EPS8L1):c.1868C>T (p.Pro623Leu)	EPS8L1 (P623L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458817	NM_133180.3(EPS8L1):c.1933G>A (p.Ala645Thr)	EPS8L1 (A645T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089940	NM_133180.3(EPS8L1):c.1961A>G (p.Asp654Gly)	EPS8L1 (D527G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089941	NM_133180.3(EPS8L1):c.1978A>C (p.Thr660Pro)	EPS8L1 (T533P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281938	NM_133180.3(EPS8L1):c.1994T>C (p.Phe665Ser)	EPS8L1 (F538S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536950	NM_133180.3(EPS8L1):c.1997C>T (p.Ser666Leu)	EPS8L1 (S666L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089943	NM_133180.3(EPS8L1):c.2011G>A (p.Glu671Lys)	EPS8L1 (E544K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089944	NM_133180.3(EPS8L1):c.2036A>G (p.Glu679Gly)	EPS8L1 (E552G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212684	NM_133180.3(EPS8L1):c.2075C>T (p.Ser692Leu)	EPS8L1 (S565L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215428	NM_133180.3(EPS8L1):c.2108T>C (p.Leu703Pro)	EPS8L1 (L703P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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Items: 71