"Ambry Genetics"[submitter] AND "REV3L"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2346445	NM_001372078.1(REV3L):c.9342T>G (p.Asn3114Lys)	REV3L (N3114K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2469691	NM_001372078.1(REV3L):c.9278T>C (p.Phe3093Ser)	REV3L (F3015S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3153258	NM_001372078.1(REV3L):c.9217C>T (p.Arg3073Trp)	REV3L (R2995W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2286344	NM_001372078.1(REV3L):c.9122A>G (p.His3041Arg)	REV3L (H2963R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2535755	NM_001372078.1(REV3L):c.9106T>C (p.Tyr3036His)	REV3L (Y3036H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3153257	NM_001372078.1(REV3L):c.9070A>T (p.Ser3024Cys)	REV3L (S2946C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3153256	NM_001372078.1(REV3L):c.8857A>G (p.Ile2953Val)	REV3L (I2875V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2291905	NM_001372078.1(REV3L):c.8576G>C (p.Arg2859Thr)	REV3L (R2859T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3153255	NM_001372078.1(REV3L):c.8541C>G (p.Asp2847Glu)	REV3L (D2847E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 750781	NM_001372078.1(REV3L):c.8467G>C (p.Val2823Leu)	REV3L (V2745L +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2402461	NM_001372078.1(REV3L):c.8110A>G (p.Met2704Val)	REV3L (M2626V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3153254	NM_001372078.1(REV3L):c.8080T>G (p.Leu2694Val)	REV3L (L2616V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3153253	NM_001372078.1(REV3L):c.8001C>G (p.Ile2667Met)	REV3L (I2589M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2224801	NM_001372078.1(REV3L):c.7999A>G (p.Ile2667Val)	REV3L (I2667V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2479332	NM_001372078.1(REV3L):c.7532T>A (p.Leu2511Gln)	REV3L (L2433Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2541802	NM_001372078.1(REV3L):c.7359G>C (p.Met2453Ile)	REV3L (M2375I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2560175	NM_001372078.1(REV3L):c.7280G>A (p.Arg2427Gln)	REV3L (R2427Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2253131	NM_001372078.1(REV3L):c.7113T>G (p.Ile2371Met)	REV3L (I2293M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2321013	NM_001372078.1(REV3L):c.6893C>G (p.Thr2298Ser)	REV3L (T2298S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2541920	NM_001372078.1(REV3L):c.6856C>G (p.Gln2286Glu)	REV3L (Q2286E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2488161	NM_001372078.1(REV3L):c.6803A>T (p.Asp2268Val)	REV3L (D2190V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2353864	NM_001372078.1(REV3L):c.6755A>G (p.Asn2252Ser)	REV3L (N2252S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 725495	NM_001372078.1(REV3L):c.6601A>G (p.Ser2201Gly)	REV3L (S2123G +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2509121	NM_001372078.1(REV3L):c.6553A>G (p.Ile2185Val)	REV3L (I2107V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3153251	NM_001372078.1(REV3L):c.6453G>T (p.Glu2151Asp)	REV3L (E2073D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2543351	NM_001372078.1(REV3L):c.6437C>T (p.Ser2146Leu)	REV3L (S2146L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2620082	NM_001372078.1(REV3L):c.6401C>T (p.Pro2134Leu)	REV3L (P2134L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2517628	NM_001372078.1(REV3L):c.6370G>A (p.Val2124Ile)	REV3L (V2124I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2298947	NM_001372078.1(REV3L):c.6344T>G (p.Ile2115Ser)	REV3L (I2037S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3153250	NM_001372078.1(REV3L):c.6245C>T (p.Thr2082Met)	REV3L (T2082M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2332828	NM_001372078.1(REV3L):c.6190G>A (p.Ala2064Thr)	REV3L (A1986T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2621020	NM_001372078.1(REV3L):c.5972A>G (p.Lys1991Arg)	REV3L (K1913R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2248064	NM_001372078.1(REV3L):c.5957T>C (p.Met1986Thr)	REV3L (M1986T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3153249	NM_001372078.1(REV3L):c.5923G>A (p.Val1975Ile)	REV3L (V1897I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3153248	NM_001372078.1(REV3L):c.5863G>A (p.Ala1955Thr)	REV3L (A1877T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2525922	NM_001372078.1(REV3L):c.5848C>T (p.Arg1950Cys)	REV3L (R1872C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3153247	NM_001372078.1(REV3L):c.5699C>G (p.Ser1900Cys)	REV3L (S1822C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2280543	NM_001372078.1(REV3L):c.5660G>A (p.Arg1887Lys)	REV3L (R1809K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2338873	NM_001372078.1(REV3L):c.5606G>T (p.Ser1869Ile)	REV3L (S1869I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2312633	NM_001372078.1(REV3L):c.5516T>C (p.Leu1839Pro)	REV3L (L1761P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2492456	NM_001372078.1(REV3L):c.5474C>T (p.Pro1825Leu)	REV3L (P1825L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3153245	NM_001372078.1(REV3L):c.5461A>G (p.Ile1821Val)	REV3L (I1743V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3153244	NM_001372078.1(REV3L):c.5459C>T (p.Ala1820Val)	REV3L (A1742V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3153243	NM_001372078.1(REV3L):c.5411G>T (p.Arg1804Ile)	REV3L (R1726I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 735806	NM_001372078.1(REV3L):c.5218C>T (p.Arg1740Cys)	REV3L (R1740C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2276002	NM_001372078.1(REV3L):c.5194A>G (p.Thr1732Ala)	REV3L (T1732A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2605759	NM_001372078.1(REV3L):c.5039A>T (p.Asp1680Val)	REV3L (D1602V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3153241	NM_001372078.1(REV3L):c.4830C>G (p.Ser1610Arg)	REV3L (S1610R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3153240	NM_001372078.1(REV3L):c.4724G>A (p.Arg1575Gln)	REV3L (R1575Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2544454	NM_001372078.1(REV3L):c.4609A>G (p.Arg1537Gly)	REV3L (R1459G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2235465	NM_001372078.1(REV3L):c.4570C>G (p.Gln1524Glu)	REV3L (Q1524E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2224963	NM_001372078.1(REV3L):c.4549C>T (p.Pro1517Ser)	REV3L (P1439S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3153239	NM_001372078.1(REV3L):c.4216T>G (p.Ser1406Ala)	REV3L (S1328A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2394734	NM_001372078.1(REV3L):c.4211G>A (p.Arg1404His)	REV3L (R1326H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3153238	NM_001372078.1(REV3L):c.4182G>T (p.Leu1394Phe)	REV3L (L1394F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 741052	NM_001372078.1(REV3L):c.4114A>G (p.Thr1372Ala)	REV3L (T1294A +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2320229	NM_001372078.1(REV3L):c.4097C>G (p.Ser1366Cys)	REV3L (S1366C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2221085	NM_001372078.1(REV3L):c.4095A>T (p.Leu1365Phe)	REV3L (L1287F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 778345	NM_001372078.1(REV3L):c.4034T>A (p.Met1345Lys)	REV3L (M1345K +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2331764	NM_001372078.1(REV3L):c.4000A>C (p.Ile1334Leu)	REV3L (I1334L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 790584	NM_001372078.1(REV3L):c.3905G>C (p.Ser1302Thr)	REV3L (S1224T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2516807	NM_001372078.1(REV3L):c.3821T>C (p.Val1274Ala)	REV3L (V1196A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2277482	NM_001372078.1(REV3L):c.3817G>A (p.Ala1273Thr)	REV3L (A1195T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3153237	NM_001372078.1(REV3L):c.3607G>A (p.Asp1203Asn)	REV3L (D1125N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2304062	NM_001372078.1(REV3L):c.3576C>A (p.Asn1192Lys)	REV3L (N1192K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2524012	NM_001372078.1(REV3L):c.3520A>G (p.Ile1174Val)	REV3L (I1096V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3153235	NM_001372078.1(REV3L):c.3445C>T (p.Leu1149Phe)	REV3L (L1071F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3153234	NM_001372078.1(REV3L):c.3353C>G (p.Thr1118Arg)	REV3L (T1118R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3153233	NM_001372078.1(REV3L):c.3334T>C (p.Phe1112Leu)	REV3L (F1034L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 713860	NM_001372078.1(REV3L):c.3280G>A (p.Ala1094Thr)	REV3L (A1016T +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3153232	NM_001372078.1(REV3L):c.3278A>G (p.Asn1093Ser)	REV3L (N1093S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2270887	NM_001372078.1(REV3L):c.3220T>G (p.Leu1074Val)	REV3L (L996V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2488279	NM_001372078.1(REV3L):c.3194C>A (p.Thr1065Lys)	REV3L (T1065K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3153231	NM_001372078.1(REV3L):c.3190A>G (p.Arg1064Gly)	REV3L (R1064G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2287013	NM_001372078.1(REV3L):c.3014T>C (p.Ile1005Thr)	REV3L (I927T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2615702	NM_001372078.1(REV3L):c.2938A>G (p.Ile980Val)	REV3L (I902V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2603819	NM_001372078.1(REV3L):c.2931G>C (p.Lys977Asn)	REV3L (K977N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3153230	NM_001372078.1(REV3L):c.2891G>A (p.Arg964Gln)	REV3L (R964Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2281150	NM_001372078.1(REV3L):c.2797G>A (p.Glu933Lys)	REV3L (E855K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2332727	NM_001372078.1(REV3L):c.2768G>A (p.Arg923His)	REV3L (R923H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2309215	NM_001372078.1(REV3L):c.2641A>G (p.Thr881Ala)	REV3L (T803A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3153229	NM_001372078.1(REV3L):c.2602G>A (p.Glu868Lys)	REV3L (E868K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3153228	NM_001372078.1(REV3L):c.2568T>A (p.Asn856Lys)	REV3L (N778K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3153227	NM_001372078.1(REV3L):c.2548A>T (p.Thr850Ser)	REV3L (T772S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2383339	NM_001372078.1(REV3L):c.2455T>C (p.Tyr819His)	REV3L (Y819H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2260256	NM_001372078.1(REV3L):c.2266A>G (p.Met756Val)	REV3L (M678V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3153226	NM_001372078.1(REV3L):c.2189C>T (p.Thr730Ile)	REV3L (T730I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2266578	NM_001372078.1(REV3L):c.2098A>G (p.Asn700Asp)	REV3L (N700D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2616435	NM_001372078.1(REV3L):c.1984T>C (p.Tyr662His)	REV3L (Y584H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2321814	NM_001372078.1(REV3L):c.1824A>T (p.Lys608Asn)	REV3L (K530N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2287750	NM_001372078.1(REV3L):c.1736G>A (p.Cys579Tyr)	REV3L (C579Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2465222	NM_001372078.1(REV3L):c.1611C>G (p.Asn537Lys)	REV3L (N459K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 740019	NM_001372078.1(REV3L):c.1553G>A (p.Ser518Asn)	REV3L (S518N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GBenign/Likely benign
Select item 3153224	NM_001372078.1(REV3L):c.1531G>A (p.Asp511Asn)	REV3L (D433N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2343646	NM_001372078.1(REV3L):c.1443T>G (p.Cys481Trp)	REV3L (C481W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2554010	NM_001372078.1(REV3L):c.1438C>G (p.His480Asp)	REV3L (H480D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3153223	NM_001372078.1(REV3L):c.1373T>C (p.Ile458Thr)	REV3L (I380T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2520473	NM_001372078.1(REV3L):c.1329T>G (p.Asn443Lys)	REV3L (N365K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2248023	NM_001372078.1(REV3L):c.1319T>G (p.Phe440Cys)	REV3L (F362C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2366648	NM_001372078.1(REV3L):c.1313G>A (p.Arg438His)	REV3L (R438H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign

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