ClinVar for Gene (Select 1244) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3379982	NM_000392.5(ABCC2):c.3149T>C (p.Val1050Ala)	ABCC2 (V1050A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3377724	NM_000392.5(ABCC2):c.3629G>T (p.Arg1210Leu)	ABCC2 (R1210L)	Single nucleotide variant (missense variant)	Dubin-Johnson syndrome	GUncertain significance
Select item 3358388	NM_000392.5(ABCC2):c.1645G>A (p.Val549Ile)	ABCC2 (V549I)	Single nucleotide variant (missense variant)	ABCC2-related disorder	GUncertain significance
Select item 3357393	NM_000392.5(ABCC2):c.4108C>T (p.Leu1370Phe)	ABCC2 (L1370F)	Single nucleotide variant (missense variant)	ABCC2-related disorder	GUncertain significance
Select item 3357324	NM_000392.5(ABCC2):c.1625T>G (p.Leu542Arg)	ABCC2 (L542R)	Single nucleotide variant (missense variant)	ABCC2-related disorder	GUncertain significance
Select item 3357052	NM_000392.5(ABCC2):c.1768C>T (p.Arg590Cys)	ABCC2 (R590C)	Single nucleotide variant (missense variant)	ABCC2-related disorder	GUncertain significance
Select item 3356993	NM_000392.5(ABCC2):c.731C>T (p.Thr244Met)	ABCC2 (T244M)	Single nucleotide variant (missense variant)	ABCC2-related disorder	GUncertain significance
Select item 3356523	NM_000392.5(ABCC2):c.1412T>G (p.Val471Gly)	ABCC2 (V471G)	Single nucleotide variant (missense variant)	ABCC2-related disorder	GUncertain significance
Select item 3355553	NM_000392.5(ABCC2):c.34-8G>C	ABCC2, LOC108281165	Single nucleotide variant (intron variant)	ABCC2-related disorder	GLikely benign
Select item 3354760	NM_000392.5(ABCC2):c.3338T>G (p.Leu1113Arg)	ABCC2, LOC126861013 (L1113R)	Single nucleotide variant (missense variant)	ABCC2-related disorder	GUncertain significance
Select item 3354689	NM_000392.5(ABCC2):c.2114C>T (p.Pro705Leu)	ABCC2 (P705L)	Single nucleotide variant (missense variant)	ABCC2-related disorder	GUncertain significance
Select item 3354316	NM_000392.5(ABCC2):c.4403A>T (p.Asp1468Val)	ABCC2 (D1468V)	Single nucleotide variant (missense variant)	ABCC2-related disorder	GUncertain significance
Select item 3352938	NM_000392.5(ABCC2):c.2492T>C (p.Ile831Thr)	ABCC2 (I831T)	Single nucleotide variant (missense variant)	ABCC2-related disorder	GUncertain significance
Select item 3352546	NM_000392.5(ABCC2):c.2420A>G (p.Asn807Ser)	ABCC2 (N807S)	Single nucleotide variant (missense variant)	ABCC2-related disorder	GUncertain significance
Select item 3351493	NM_000392.5(ABCC2):c.2714G>T (p.Arg905Ile)	ABCC2, LOC126861012 (R905I)	Single nucleotide variant (missense variant)	ABCC2-related disorder	GUncertain significance
Select item 3349470	NM_000392.5(ABCC2):c.2996G>A (p.Trp999Ter)	ABCC2 (W999*)	Single nucleotide variant (nonsense)	ABCC2-related disorder	GLikely pathogenic
Select item 3348000	NM_000392.5(ABCC2):c.3401A>T (p.Tyr1134Phe)	ABCC2, LOC126861013 (Y1134F)	Single nucleotide variant (missense variant)	ABCC2-related disorder	GUncertain significance
Select item 3347620	NM_000392.5(ABCC2):c.1575A>C (p.Val525=)	ABCC2	Single nucleotide variant (synonymous variant)	ABCC2-related disorder	GLikely benign
Select item 3347610	NM_000392.5(ABCC2):c.1567G>A (p.Asp523Asn)	ABCC2 (D523N)	Single nucleotide variant (missense variant)	ABCC2-related disorder	GUncertain significance
Select item 3346960	NM_000392.5(ABCC2):c.2854A>G (p.Ile952Val)	ABCC2, LOC126861012 (I952V)	Single nucleotide variant (missense variant)	ABCC2-related disorder	GUncertain significance
Select item 3344491	NM_000392.5(ABCC2):c.133C>T (p.Pro45Ser)	ABCC2, LOC108281165 (P45S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3336097	NM_000392.5(ABCC2):c.2153A>G (p.Asn718Ser)	ABCC2 (N718S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3335969	NM_000392.5(ABCC2):c.4465_4473delinsGGCCCACAG (p.Ile1489_Ile1491delinsGlyProGln)	ABCC2	Indel (missense variant)	Dubin-Johnson syndrome	GLikely pathogenic
Select item 3299777	NM_000392.5(ABCC2):c.1174G>C (p.Val392Leu)	ABCC2 (V392L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3299684	NM_000392.5(ABCC2):c.151G>A (p.Val51Met)	ABCC2, LOC108281165 (V51M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3299594	NM_000392.5(ABCC2):c.4019A>G (p.Lys1340Arg)	ABCC2 (K1340R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3299501	NM_000392.5(ABCC2):c.2769T>G (p.His923Gln)	ABCC2, LOC126861012 (H923Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3299411	NM_000392.5(ABCC2):c.4261A>G (p.Ser1421Gly)	ABCC2 (S1421G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3299369	NM_000392.5(ABCC2):c.389G>T (p.Trp130Leu)	ABCC2 (W130L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3299260	NM_000392.5(ABCC2):c.4590T>A (p.Phe1530Leu)	ABCC2 (F1530L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3298852	NM_000392.5(ABCC2):c.1160A>G (p.Lys387Arg)	ABCC2 (K387R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3244950	NC_000010.10:g.(?_101593768)_(101596044_?)del	ABCC2	Deletion	not provided	GPathogenic
Select item 3244949	NC_000010.10:g.(?_101590044)_(101596067_?)dup	ABCC2	Duplication	not provided	GLikely pathogenic
Select item 3244947	NC_000010.10:g.(?_101577045)_(101579046_?)dup	ABCC2	Duplication	not provided	GLikely pathogenic
Select item 3244946	NC_000010.10:g.(?_101601704)_(101601870_?)dup	ABCC2	Duplication	not provided	GLikely pathogenic
Select item 3244945	NC_000010.10:g.(?_101556834)_(101560340_?)del	ABCC2	Deletion	not provided	GPathogenic
Select item 3244944	NC_000010.10:g.(?_101551971)_(101560340_?)del	ABCC2	Deletion	not provided	GPathogenic
Select item 3244943	NC_000010.10:g.(?_101551971)_(101554245_?)del	ABCC2	Deletion	not provided	GPathogenic
Select item 3244942	NC_000010.10:g.(?_101594117)_(101606904_?)del	ABCC2	Deletion	not provided	GPathogenic
Select item 3244941	NC_000010.10:g.(?_101571273)_(101572921_?)del	ABCC2	Deletion	not provided	GPathogenic
Select item 3244940	NC_000010.10:g.(?_101567121)_(101577261_?)del	ABCC2	Deletion	not provided	GPathogenic
Select item 3244939	NC_000010.10:g.(?_101563756)_(101568006_?)del	ABCC2	Deletion	not provided	GPathogenic
Select item 3244938	NC_000010.10:g.(?_101542602)_(101544558_?)del	ABCC2	Deletion	not provided	GPathogenic
Select item 3244936	NC_000010.10:g.(?_101542602)_(101611388_?)del	ABCC2	Deletion	not provided	GPathogenic
Select item 3242073	NM_000392.5(ABCC2):c.2289G>T (p.Gly763=)	ABCC2	Single nucleotide variant (synonymous variant)	Dubin-Johnson syndrome	GUncertain significance
Select item 3234475	NM_000392.5(ABCC2):c.524A>C (p.Gln175Pro)	ABCC2 (Q175P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3128084	NM_000392.5(ABCC2):c.937G>A (p.Ala313Thr)	ABCC2 (A313T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3128077	NM_000392.5(ABCC2):c.88A>T (p.Thr30Ser)	ABCC2, LOC108281165 (T30S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3128055	NM_000392.5(ABCC2):c.4496T>G (p.Met1499Arg)	ABCC2 (M1499R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3128053	NM_000392.5(ABCC2):c.4487A>T (p.His1496Leu)	ABCC2 (H1496L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3128050	NM_000392.5(ABCC2):c.4474G>A (p.Ala1492Thr)	ABCC2 (A1492T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3128045	NM_000392.5(ABCC2):c.430A>G (p.Thr144Ala)	ABCC2 (T144A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3128043	NM_000392.5(ABCC2):c.4207G>T (p.Asp1403Tyr)	ABCC2 (D1403Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3128025	NM_000392.5(ABCC2):c.3867G>T (p.Arg1289Ser)	ABCC2 (R1289S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3128018	NM_000392.5(ABCC2):c.3599G>T (p.Trp1200Leu)	ABCC2 (W1200L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3128006	NM_000392.5(ABCC2):c.3148G>A (p.Val1050Ile)	ABCC2 (V1050I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3127994	NM_000392.5(ABCC2):c.3023A>C (p.Lys1008Thr)	ABCC2 (K1008T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3127984	NM_000392.5(ABCC2):c.2918C>A (p.Ala973Glu)	ABCC2 (A973E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3127980	NM_000392.5(ABCC2):c.2914C>A (p.Gln972Lys)	ABCC2 (Q972K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3127961	NM_000392.5(ABCC2):c.2579A>G (p.Lys860Arg)	ABCC2 (K860R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3127913	NM_000392.5(ABCC2):c.1925C>G (p.Ala642Gly)	ABCC2 (A642G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3127912	NM_000392.5(ABCC2):c.1891del (p.Cys631fs)	ABCC2 (C631fs)	Deletion (frameshift variant)	Inborn genetic diseases	GPathogenic
Select item 3127904	NM_000392.5(ABCC2):c.1609C>A (p.Leu537Met)	ABCC2 (L537M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3127900	NM_000392.5(ABCC2):c.1490A>C (p.Lys497Thr)	ABCC2 (K497T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3127890	NM_000392.5(ABCC2):c.109T>G (p.Leu37Val)	ABCC2, LOC108281165 (L37V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3065972	NM_000392.5(ABCC2):c.3520C>T (p.Arg1174Cys)	ABCC2 (R1174C)	Single nucleotide variant (missense variant)	Dubin-Johnson syndrome	GUncertain significance
Select item 3063183	GRCh37/hg19 10q23.33-24.2(chr10:94283369-101820913)x1	ABCC2, ACSM6 +74 more	Copy number loss	not specified	GPathogenic
Select item 3063164	GRCh37/hg19 10q23.33-26.3(chr10:95078198-135427143)x3	ABCC2, ABLIM1 +293 more	Copy number gain	not specified	GPathogenic
Select item 3061583	NM_000392.5(ABCC2):c.2625T>C (p.His875=)	ABCC2, LOC126861012	Single nucleotide variant (synonymous variant)	ABCC2-related disorder	GLikely benign
Select item 3061527	NM_000392.5(ABCC2):c.469-3T>C	ABCC2	Single nucleotide variant (intron variant)	ABCC2-related disorder	GLikely benign
Select item 3060252	NM_000392.5(ABCC2):c.3615-2A>T	ABCC2	Single nucleotide variant (splice acceptor variant)	ABCC2-related disorder	GPathogenic
Select item 3056742	NM_000392.5(ABCC2):c.455G>A (p.Arg152Gln)	ABCC2 (R152Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3055209	NM_000392.5(ABCC2):c.338T>C (p.Leu113Pro)	ABCC2 (L113P)	Single nucleotide variant (missense variant)	ABCC2-related disorder	GUncertain significance
Select item 3054632	NM_000392.5(ABCC2):c.2791T>C (p.Leu931=)	ABCC2, LOC126861012	Single nucleotide variant (synonymous variant)	ABCC2-related disorder	GLikely benign
Select item 3051603	NM_000392.5(ABCC2):c.2637A>G (p.Glu879=)	ABCC2, LOC126861012	Single nucleotide variant (synonymous variant)	ABCC2-related disorder	GLikely benign
Select item 3048008	NM_000392.5(ABCC2):c.342T>G (p.Val114=)	ABCC2	Single nucleotide variant (synonymous variant)	ABCC2-related disorder	GLikely benign
Select item 3033525	NM_000392.5(ABCC2):c.633-1G>A	ABCC2	Single nucleotide variant (splice acceptor variant)	ABCC2-related disorder	GLikely pathogenic
Select item 3033126	NM_000392.5(ABCC2):c.3G>A (p.Met1Ile)	ABCC2 (M1I)	Single nucleotide variant (missense variant +1 more)	ABCC2-related disorder	GUncertain significance
Select item 3031773	NM_000392.5(ABCC2):c.3893G>A (p.Gly1298Asp)	ABCC2 (G1298D)	Single nucleotide variant (missense variant)	ABCC2-related disorder	GUncertain significance
Select item 3030849	NM_000392.5(ABCC2):c.2414del (p.Gly805fs)	ABCC2 (G805fs)	Deletion (frameshift variant)	ABCC2-related disorder	GPathogenic
Select item 3029704	NM_000392.5(ABCC2):c.357C>T (p.Tyr119=)	ABCC2	Single nucleotide variant (synonymous variant)	ABCC2-related disorder	GLikely benign
Select item 3029169	NM_000392.5(ABCC2):c.3103+8T>A	ABCC2	Single nucleotide variant (intron variant)	ABCC2-related disorder	GLikely benign
Select item 3025921	NM_000392.5(ABCC2):c.1439T>C (p.Leu480Pro)	ABCC2 (L480P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3023984	NM_000392.5(ABCC2):c.2272-17A>G	ABCC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3022446	NM_000392.5(ABCC2):c.1321C>T (p.Leu441=)	ABCC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3021790	NM_000392.5(ABCC2):c.3414+9G>A	ABCC2, LOC126861013	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3021225	NM_000392.5(ABCC2):c.2748-13T>G	ABCC2, LOC126861012	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3020316	NM_000392.5(ABCC2):c.1659T>C (p.Thr553=)	ABCC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3019992	NM_000392.5(ABCC2):c.1965A>G (p.Arg655=)	ABCC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3018434	NM_000392.5(ABCC2):c.177C>T (p.Ser59=)	ABCC2, LOC108281165	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3017626	NM_000392.5(ABCC2):c.807T>A (p.Ser269=)	ABCC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3016683	NM_000392.5(ABCC2):c.984G>A (p.Leu328=)	ABCC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3016219	NM_000392.5(ABCC2):c.3255C>T (p.Ala1085=)	ABCC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3015333	NM_000392.5(ABCC2):c.4147-2A>G	ABCC2	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 3014964	NM_000392.5(ABCC2):c.2994C>G (p.Leu998=)	ABCC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3014145	NM_000392.5(ABCC2):c.1858del (p.Asp620fs)	ABCC2 (D620fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 3013955	NM_000392.5(ABCC2):c.2731C>T (p.Arg911Ter)	ABCC2, LOC126861012 (R911*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 3013829	NM_000392.5(ABCC2):c.3103+7C>T	ABCC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3012617	NM_000392.5(ABCC2):c.2640A>G (p.Glu880=)	ABCC2, LOC126861012	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3012159	NM_000392.5(ABCC2):c.3669C>T (p.Ala1223=)	ABCC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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