ClinVar for Gene (Select 5980) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3353881	NM_001372078.1(REV3L):c.228T>C (p.Leu76=)	REV3L	Single nucleotide variant (5 prime UTR variant +1 more)	REV3L-related disorder	GLikely benign
Select item 3353621	NM_001372078.1(REV3L):c.58C>T (p.Leu20=)	LOC129996991, REV3L	Single nucleotide variant (5 prime UTR variant +1 more)	REV3L-related disorder	GLikely benign
Select item 3345846	NM_001372078.1(REV3L):c.1595G>C (p.Ser532Thr)	REV3L (S454T +1 more)	Single nucleotide variant (missense variant)	REV3L-related disorder	GUncertain significance
Select item 3313815	NM_001372078.1(REV3L):c.3124C>G (p.Pro1042Ala)	REV3L (P1042A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3313814	NM_001372078.1(REV3L):c.4181T>G (p.Leu1394Trp)	REV3L (L1316W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3313812	NM_001372078.1(REV3L):c.5149T>C (p.Trp1717Arg)	REV3L (W1717R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3313811	NM_001372078.1(REV3L):c.4136C>T (p.Ser1379Phe)	REV3L (S1301F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3313810	NM_001372078.1(REV3L):c.3439G>A (p.Ala1147Thr)	REV3L (A1147T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3313809	NM_001372078.1(REV3L):c.2665A>C (p.Thr889Pro)	REV3L (T889P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3313808	NM_001372078.1(REV3L):c.1387A>G (p.Met463Val)	REV3L (M463V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3313807	NM_001372078.1(REV3L):c.5505A>T (p.Glu1835Asp)	REV3L (E1757D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3313806	NM_001372078.1(REV3L):c.7285A>G (p.Ile2429Val)	REV3L (I2351V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3313805	NM_001372078.1(REV3L):c.1988A>T (p.Glu663Val)	REV3L (E585V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3313804	NM_001372078.1(REV3L):c.7413A>C (p.Arg2471Ser)	REV3L (R2471S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3313803	NM_001372078.1(REV3L):c.7357A>G (p.Met2453Val)	REV3L (M2375V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3313801	NM_001372078.1(REV3L):c.787G>A (p.Ala263Thr)	REV3L (A185T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3313800	NM_001372078.1(REV3L):c.5591A>T (p.Gln1864Leu)	REV3L (Q1864L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3313799	NM_001372078.1(REV3L):c.5050G>A (p.Asp1684Asn)	REV3L (D1684N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3313798	NM_001372078.1(REV3L):c.268G>A (p.Ala90Thr)	REV3L (A90T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3313797	NM_001372078.1(REV3L):c.8606T>C (p.Ile2869Thr)	REV3L (I2869T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3313796	NM_001372078.1(REV3L):c.8816G>A (p.Arg2939Gln)	REV3L (R2939Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3313795	NM_001372078.1(REV3L):c.1564C>T (p.Pro522Ser)	REV3L (P444S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3313794	NM_001372078.1(REV3L):c.3719A>G (p.Lys1240Arg)	REV3L (K1162R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3313793	NM_001372078.1(REV3L):c.4315A>G (p.Ser1439Gly)	REV3L (S1361G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3313792	NM_001372078.1(REV3L):c.7906C>G (p.His2636Asp)	REV3L (H2558D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3313790	NM_001372078.1(REV3L):c.4501T>G (p.Ser1501Ala)	REV3L (S1501A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3313789	NM_001372078.1(REV3L):c.8902C>T (p.Arg2968Cys)	REV3L (R2968C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3313788	NM_001372078.1(REV3L):c.1429A>G (p.Ile477Val)	REV3L (I477V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3313787	NM_001372078.1(REV3L):c.9205A>C (p.Asn3069His)	REV3L (N2991H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3313786	NM_001372078.1(REV3L):c.1049C>T (p.Thr350Ile)	REV3L (T350I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3313785	NM_001372078.1(REV3L):c.4420C>G (p.Gln1474Glu)	REV3L (Q1474E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3257886	NM_001372078.1(REV3L):c.2867A>C (p.Asp956Ala)	REV3L (D878A +1 more)	Single nucleotide variant (missense variant)	Neoplasm	OUncertain significance
Select item 3257885	NM_001372078.1(REV3L):c.8492C>G (p.Thr2831Arg)	REV3L (T2753R +1 more)	Single nucleotide variant (missense variant)	Neoplasm	OUncertain significance
Select item 3246165	NC_000006.11:g.(?_111640856)_(111644166_?)del	REV3L	Deletion	not provided	GPathogenic
Select item 3242312	GRCh37/hg19 6q21-22.31(chr6:109324789-124836619)x1	AK9, AMD1 +70 more	Copy number loss	not provided	GPathogenic
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 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 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 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 3153252	NM_001372078.1(REV3L):c.682G>A (p.Val228Ile)	REV3L (V228I +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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 3153222	NM_001372078.1(REV3L):c.1240C>G (p.Leu414Val)	REV3L (L336V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3062896	GRCh37/hg19 6q21-23.2(chr6:110546061-131896074)x3	AKAP7, AMD1 +87 more	Copy number gain	not specified	GLikely pathogenic
Select item 3060670	NM_001372078.1(REV3L):c.4290G>A (p.Val1430=)	REV3L	Single nucleotide variant (synonymous variant)	REV3L-related disorder	GBenign
Select item 3059928	NM_001372078.1(REV3L):c.4485G>A (p.Ser1495=)	REV3L	Single nucleotide variant (synonymous variant)	REV3L-related disorder	GBenign
Select item 3059806	NM_001372078.1(REV3L):c.3671C>T (p.Thr1224Ile)	REV3L (T1146I +1 more)	Single nucleotide variant (missense variant)	REV3L-related disorder	GBenign
Select item 3059727	NM_001372078.1(REV3L):c.2706A>G (p.Gly902=)	REV3L	Single nucleotide variant (synonymous variant)	REV3L-related disorder	GBenign
Select item 3059442	NM_001372078.1(REV3L):c.3301C>T (p.Leu1101=)	REV3L	Single nucleotide variant (synonymous variant)	REV3L-related disorder	GBenign
Select item 3058645	NM_001372078.1(REV3L):c.2087A>T (p.His696Leu)	REV3L (H618L +1 more)	Single nucleotide variant (missense variant)	REV3L-related disorder	GLikely benign
Select item 3057510	NM_001372078.1(REV3L):c.8938C>T (p.Leu2980=)	REV3L	Single nucleotide variant (synonymous variant)	REV3L-related disorder	GLikely benign
Select item 3057508	NM_001372078.1(REV3L):c.315A>T (p.Ser105=)	REV3L	Single nucleotide variant (synonymous variant)	REV3L-related disorder	GLikely benign
Select item 3057225	NM_001372078.1(REV3L):c.6064C>T (p.Leu2022=)	REV3L	Single nucleotide variant (synonymous variant)	REV3L-related disorder	GBenign
Select item 3056062	NM_001372078.1(REV3L):c.3429A>T (p.Ala1143=)	REV3L	Single nucleotide variant (synonymous variant)	REV3L-related disorder	GBenign
Select item 3055335	NM_001372078.1(REV3L):c.6309C>T (p.Pro2103=)	REV3L	Single nucleotide variant (synonymous variant)	REV3L-related disorder	GBenign
Select item 3052680	NM_001372078.1(REV3L):c.8805G>A (p.Leu2935=)	REV3L	Single nucleotide variant (synonymous variant)	REV3L-related disorder	GLikely benign
Select item 3051042	NM_001372078.1(REV3L):c.426C>T (p.Ser142=)	REV3L	Single nucleotide variant (synonymous variant)	REV3L-related disorder	GLikely benign
Select item 3050843	NM_001372078.1(REV3L):c.405-10dup	REV3L	Duplication (intron variant)	REV3L-related disorder	GLikely benign
Select item 3042753	NM_001372078.1(REV3L):c.1217-8T>C	REV3L	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3042556	NM_001372078.1(REV3L):c.9066G>A (p.Ser3022=)	REV3L	Single nucleotide variant (synonymous variant)	REV3L-related disorder	GLikely benign
Select item 3042483	NM_001372078.1(REV3L):c.2688C>T (p.Asp896=)	REV3L	Single nucleotide variant (synonymous variant)	REV3L-related disorder	GLikely benign
Select item 3041876	NM_001372078.1(REV3L):c.5434G>C (p.Asp1812His)	REV3L (D1734H +1 more)	Single nucleotide variant (missense variant)	REV3L-related disorder	GBenign
Select item 3041385	NM_001372078.1(REV3L):c.5909G>A (p.Arg1970His)	REV3L (R1892H +1 more)	Single nucleotide variant (missense variant)	REV3L-related disorder	GBenign
Select item 3040341	NM_001372078.1(REV3L):c.579T>C (p.His193=)	REV3L	Single nucleotide variant (synonymous variant)	REV3L-related disorder	GLikely benign
Select item 3038531	NM_001372078.1(REV3L):c.-4G>A	LOC129996991, REV3L	Single nucleotide variant (5 prime UTR variant)	REV3L-related disorder	GLikely benign
Select item 3037951	NM_001372078.1(REV3L):c.3467A>G (p.Tyr1156Cys)	REV3L (Y1078C +1 more)	Single nucleotide variant (missense variant)	REV3L-related disorder	GBenign
Select item 3037738	NM_001372078.1(REV3L):c.5371C>T (p.Pro1791Ser)	REV3L (P1713S +1 more)	Single nucleotide variant (missense variant)	REV3L-related disorder	GBenign
Select item 3037346	NM_001372078.1(REV3L):c.3659C>T (p.Ser1220Leu)	REV3L (S1142L +1 more)	Single nucleotide variant (missense variant)	REV3L-related disorder	GBenign
Select item 2758700	NM_001372078.1(REV3L):c.1511_1513del (p.Gly504del)	REV3L (G426del +1 more)	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 2718008	NM_001372078.1(REV3L):c.7185-5T>A	REV3L	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2689865	NM_001372078.1(REV3L):c.97A>T (p.Lys33Ter)	REV3L (K33*)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 2681513	NM_001372078.1(REV3L):c.2089C>G (p.Pro697Ala)	REV3L (P619A +1 more)	Single nucleotide variant (missense variant)	EBV-positive nodal T- and NK-cell lymphoma	GLikely benign
Select item 2672104	NM_001372078.1(REV3L):c.4750C>T (p.Arg1584Ter)	REV3L (R1506* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2656855	NM_001372078.1(REV3L):c.780T>G (p.Gly260=)	REV3L	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2656854	NM_001372078.1(REV3L):c.2889A>G (p.Lys963=)	REV3L	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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