"Ambry Genetics"[submitter] AND "EPS8L2"[gene] - ClinVar

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Items: 79

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2064925	NM_022772.4(EPS8L2):c.7C>A (p.Gln3Lys)	EPS8L2 (Q3K)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1510864	NM_022772.4(EPS8L2):c.13G>A (p.Gly5Arg)	EPS8L2 (G5R)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2267565	NM_022772.4(EPS8L2):c.23G>A (p.Ser8Asn)	EPS8L2 (S8N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257573	NM_022772.4(EPS8L2):c.55G>C (p.Gly19Arg)	EPS8L2 (G19R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1908196	NM_022772.4(EPS8L2):c.55G>A (p.Gly19Ser)	EPS8L2 (G19S)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2291470	NM_022772.4(EPS8L2):c.67G>A (p.Gly23Ser)	EPS8L2 (G23S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 804774	NM_022772.4(EPS8L2):c.80T>C (p.Met27Thr)	EPS8L2 (M27T)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2359223	NM_022772.4(EPS8L2):c.89A>G (p.Lys30Arg)	EPS8L2 (K30R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3089954	NM_022772.4(EPS8L2):c.130G>A (p.Val44Ile)	EPS8L2 (V44I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089955	NM_022772.4(EPS8L2):c.137T>G (p.Met46Arg)	EPS8L2 (M46R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266183	NM_022772.4(EPS8L2):c.163C>A (p.Gln55Lys)	EPS8L2 (Q55K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1441380	NM_022772.4(EPS8L2):c.184A>T (p.Met62Leu)	EPS8L2 (M62L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2596005	NM_022772.4(EPS8L2):c.226C>T (p.Arg76Trp)	EPS8L2 (R76W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601089	NM_022772.4(EPS8L2):c.304C>T (p.Arg102Trp)	EPS8L2 (R102W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089964	NM_022772.4(EPS8L2):c.313G>A (p.Asp105Asn)	EPS8L2 (D105N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213525	NM_022772.4(EPS8L2):c.368G>A (p.Ser123Asn)	EPS8L2 (S123N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557935	NM_022772.4(EPS8L2):c.389T>A (p.Leu130Gln)	EPS8L2 (L130Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3276114	NM_022772.4(EPS8L2):c.415G>C (p.Val139Leu)	EPS8L2 (V139L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2411035	NM_022772.4(EPS8L2):c.466G>A (p.Asp156Asn)	EPS8L2, LOC130005076 (D156N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3276119	NM_022772.4(EPS8L2):c.506G>C (p.Ser169Thr)	EPS8L2, LOC130005076 (S169T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320707	NM_022772.4(EPS8L2):c.507C>G (p.Ser169Arg)	EPS8L2, LOC130005076 (S169R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387021	NM_022772.4(EPS8L2):c.523C>T (p.Arg175Trp)	EPS8L2, LOC130005076 (R175W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601491	NM_022772.4(EPS8L2):c.540G>A (p.Met180Ile)	EPS8L2, LOC130005076 (M180I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264218	NM_022772.4(EPS8L2):c.549G>T (p.Gln183His)	EPS8L2, LOC130005076 (Q183H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491377	NM_022772.4(EPS8L2):c.550A>G (p.Thr184Ala)	EPS8L2, LOC130005076 (T184A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1409839	NM_022772.4(EPS8L2):c.578G>A (p.Arg193Gln)	EPS8L2 (R193Q)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2460909	NM_022772.4(EPS8L2):c.589T>C (p.Ser197Pro)	EPS8L2, LOC130005078 (S197P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3276112	NM_022772.4(EPS8L2):c.598C>T (p.Pro200Ser)	EPS8L2, LOC130005078 (P200S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3276121	NM_022772.4(EPS8L2):c.610G>C (p.Gly204Arg)	EPS8L2, LOC130005078 (G204R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089967	NM_022772.4(EPS8L2):c.668G>A (p.Arg223His)	EPS8L2, LOC130005078 (R223H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089968	NM_022772.4(EPS8L2):c.685C>T (p.Pro229Ser)	EPS8L2, LOC130005078 (P229S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319724	NM_022772.4(EPS8L2):c.706C>T (p.Arg236Cys)	EPS8L2 (R236C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483290	NM_022772.4(EPS8L2):c.707G>A (p.Arg236His)	EPS8L2 (R236H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1370217	NM_022772.4(EPS8L2):c.715G>C (p.Glu239Gln)	EPS8L2 (E239Q)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2260665	NM_022772.4(EPS8L2):c.739G>A (p.Val247Met)	EPS8L2 (V247M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089969	NM_022772.4(EPS8L2):c.784G>A (p.Ala262Thr)	EPS8L2 (A262T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 804773	NM_022772.4(EPS8L2):c.793G>A (p.Asp265Asn)	EPS8L2 (D265N)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2473676	NM_022772.4(EPS8L2):c.806T>G (p.Phe269Cys)	EPS8L2 (F269C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3276118	NM_022772.4(EPS8L2):c.914G>C (p.Arg305Pro)	EPS8L2 (R305P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458201	NM_022772.4(EPS8L2):c.961A>G (p.Ile321Val)	EPS8L2 (I321V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277261	NM_022772.4(EPS8L2):c.1030G>C (p.Val344Leu)	EPS8L2 (V344L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1467559	NM_022772.4(EPS8L2):c.1054G>C (p.Asp352His)	EPS8L2 (D352H)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2230767	NM_022772.4(EPS8L2):c.1090G>A (p.Ala364Thr)	EPS8L2 (A364T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402234	NM_022772.4(EPS8L2):c.1093C>T (p.Arg365Cys)	EPS8L2 (R365C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3089951	NM_022772.4(EPS8L2):c.1191G>C (p.Glu397Asp)	EPS8L2 (E397D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401344	NM_022772.4(EPS8L2):c.1202G>A (p.Arg401Gln)	EPS8L2 (R401Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089952	NM_022772.4(EPS8L2):c.1207C>T (p.Arg403Cys)	EPS8L2 (R403C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2621746	NM_022772.4(EPS8L2):c.1272G>C (p.Glu424Asp)	EPS8L2 (E424D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3276115	NM_022772.4(EPS8L2):c.1276C>T (p.Pro426Ser)	EPS8L2 (P426S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089953	NM_022772.4(EPS8L2):c.1282G>A (p.Asp428Asn)	EPS8L2 (D428N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358324	NM_022772.4(EPS8L2):c.1331C>T (p.Pro444Leu)	EPS8L2 (P444L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492040	NM_022772.4(EPS8L2):c.1358G>C (p.Arg453Pro)	EPS8L2 (R453P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089958	NM_022772.4(EPS8L2):c.1391C>T (p.Pro464Leu)	EPS8L2 (P464L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2570450	NM_022772.4(EPS8L2):c.1402C>T (p.Pro468Ser)	EPS8L2 (P468S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1461824	NM_022772.4(EPS8L2):c.1489G>A (p.Val497Ile)	EPS8L2 (V497I)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2329380	NM_022772.4(EPS8L2):c.1517G>A (p.Arg506Gln)	EPS8L2 (R506Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089959	NM_022772.4(EPS8L2):c.1528G>A (p.Glu510Lys)	EPS8L2 (E510K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3276120	NM_022772.4(EPS8L2):c.1535C>T (p.Ser512Leu)	EPS8L2 (S512L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265994	NM_022772.4(EPS8L2):c.1546G>C (p.Asp516His)	EPS8L2 (D516H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281226	NM_022772.4(EPS8L2):c.1573G>A (p.Gly525Ser)	EPS8L2 (G525S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2075224	NM_022772.4(EPS8L2):c.1609C>G (p.Gln537Glu)	EPS8L2, LOC130005080 (Q537E)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2284340	NM_022772.4(EPS8L2):c.1616G>C (p.Gly539Ala)	EPS8L2, LOC130005080 (G539A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089960	NM_022772.4(EPS8L2):c.1635C>G (p.Ile545Met)	EPS8L2, LOC130005080 (I545M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3276113	NM_022772.4(EPS8L2):c.1636C>G (p.Leu546Val)	EPS8L2, LOC130005080 (L546V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490773	NM_022772.4(EPS8L2):c.1642G>A (p.Glu548Lys)	EPS8L2, LOC130005080 (E548K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546029	NM_022772.4(EPS8L2):c.1663G>C (p.Gly555Arg)	EPS8L2, LOC130005080 (G555R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089961	NM_022772.4(EPS8L2):c.1673T>C (p.Phe558Ser)	EPS8L2, LOC130005080 (F558S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305441	NM_022772.4(EPS8L2):c.1693T>A (p.Tyr565Asn)	EPS8L2 (Y565N)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3276117	NM_022772.4(EPS8L2):c.1700G>T (p.Gly567Val)	EPS8L2 (G567V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270565	NM_022772.4(EPS8L2):c.1729C>T (p.Pro577Ser)	EPS8L2 (P577S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089962	NM_022772.4(EPS8L2):c.1738C>T (p.Pro580Ser)	EPS8L2 (P580S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510871	NM_022772.4(EPS8L2):c.1741G>A (p.Gly581Arg)	EPS8L2 (G581R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308267	NM_022772.4(EPS8L2):c.1759A>G (p.Met587Val)	EPS8L2 (M587V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2807991	NM_022772.4(EPS8L2):c.1850G>C (p.Ser617Thr)	EPS8L2 (S617T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1501501	NM_022772.4(EPS8L2):c.1919A>G (p.Lys640Arg)	EPS8L2 (K640R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2487330	NM_022772.4(EPS8L2):c.2009G>A (p.Cys670Tyr)	EPS8L2, LOC130005081 (C670Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288628	NM_022772.4(EPS8L2):c.2011G>A (p.Gly671Ser)	EPS8L2, LOC130005081 (G671S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089963	NM_022772.4(EPS8L2):c.2119A>G (p.Met707Val)	EPS8L2 (M707V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3276122	NM_022772.4(EPS8L2):c.2129G>A (p.Arg710Lys)	EPS8L2 (R710K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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Items: 79