ClinVar for MedGen (Select 7181) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3335969	NM_000392.5(ABCC2):c.4465_4473delinsGGCCCACAG (p.Ile1489_Ile1491delinsGlyProGln)	ABCC2	Indel (missense variant)	Dubin-Johnson syndrome	GLikely pathogenic
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 3065972	NM_000392.5(ABCC2):c.3520C>T (p.Arg1174Cys)	ABCC2 (R1174C)	Single nucleotide variant (missense variant)	Dubin-Johnson syndrome	GUncertain significance
Select item 2990445	NM_000392.5(ABCC2):c.890dup (p.Lys298fs)	ABCC2 (K298fs)	Duplication (frameshift variant)	not provided +1 more	GPathogenic
Select item 2982291	NM_000392.5(ABCC2):c.333+1G>A	ABCC2	Single nucleotide variant (splice donor variant)	not provided +1 more	GLikely pathogenic
Select item 2690804	NM_000392.5(ABCC2):c.656G>A (p.Arg219His)	ABCC2 (R219H)	Single nucleotide variant (missense variant)	Dubin-Johnson syndrome	GUncertain significance
Select item 2690803	NM_000392.5(ABCC2):c.4025C>A (p.Ser1342Tyr)	ABCC2 (S1342Y)	Single nucleotide variant (missense variant)	Dubin-Johnson syndrome	GUncertain significance
Select item 2585533	NM_000392.5(ABCC2):c.1998dup (p.Val667fs)	ABCC2 (V667fs)	Duplication (frameshift variant)	Dubin-Johnson syndrome +1 more	GPathogenic/Likely pathogenic
Select item 2585249	NM_000392.5(ABCC2):c.929T>G (p.Leu310Trp)	ABCC2 (L310W)	Single nucleotide variant (missense variant)	Dubin-Johnson syndrome	GUncertain significance
Select item 2444382	NM_000392.5(ABCC2):c.2312T>C (p.Leu771Pro)	ABCC2 (L771P)	Single nucleotide variant (missense variant)	Dubin-Johnson syndrome	GUncertain significance
Select item 2438738	NM_000392.5(ABCC2):c.415T>C (p.Ser139Pro)	ABCC2 (S139P)	Single nucleotide variant (missense variant)	Dubin-Johnson syndrome	GUncertain significance
Select item 1709676	NM_000392.5(ABCC2):c.2077G>C (p.Gly693Arg)	ABCC2 (G693R)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1698910	NM_000392.5(ABCC2):c.3614+1G>C	ABCC2	Single nucleotide variant (splice donor variant)	Dubin-Johnson syndrome	GLikely pathogenic
Select item 1526242	NM_000392.5(ABCC2):c.3636dup (p.Leu1213fs)	ABCC2 (L1213fs)	Duplication (frameshift variant)	not provided +1 more	GPathogenic
Select item 1526158	NM_000392.5(ABCC2):c.584_590del (p.Pro194_Ser195insTer)	ABCC2	Deletion (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1333210	NM_000392.5(ABCC2):c.351_355dup (p.Tyr119fs)	ABCC2 (Y119fs)	Duplication (frameshift variant)	Dubin-Johnson syndrome	GPathogenic
Select item 1323815	NM_000392.5(ABCC2):c.3403del (p.Val1135fs)	ABCC2, LOC126861013 (V1135fs)	Deletion (frameshift variant)	not specified +1 more	GPathogenic/Likely pathogenic
Select item 1322269	NM_000392.5(ABCC2):c.1882C>T (p.Arg628Ter)	ABCC2 (R628*)	Single nucleotide variant (nonsense)	Dubin-Johnson syndrome +1 more	GPathogenic
Select item 1322253	NM_000392.5(ABCC2):c.576+1G>A	ABCC2	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1188977	NM_000392.5(ABCC2):c.3258+56T>C	ABCC2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1188879	NM_000392.5(ABCC2):c.208-89C>T	ABCC2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1028725	NM_000392.5(ABCC2):c.2501T>C (p.Leu834Pro)	ABCC2 (L834P)	Single nucleotide variant (missense variant)	Dubin-Johnson syndrome	GUncertain significance
Select item 1028228	NM_000392.5(ABCC2):c.170A>G (p.Lys57Arg)	ABCC2, LOC108281165 (K57R)	Single nucleotide variant (missense variant)	Dubin-Johnson syndrome	GUncertain significance
Select item 930361	NM_000392.5(ABCC2):c.3417G>A (p.Met1139Ile)	ABCC2 (M1139I)	Single nucleotide variant (missense variant)	Dubin-Johnson syndrome	GUncertain significance
Select item 879847	NM_000392.5(ABCC2):c.3832G>T (p.Val1278Leu)	ABCC2 (V1278L)	Single nucleotide variant (missense variant)	Dubin-Johnson syndrome	GUncertain significance
Select item 879846	NM_000392.5(ABCC2):c.3742-12G>C	ABCC2	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 879845	NM_000392.5(ABCC2):c.3732T>G (p.Asn1244Lys)	ABCC2 (N1244K)	Single nucleotide variant (missense variant)	Dubin-Johnson syndrome	GUncertain significance
Select item 879803	NM_000392.5(ABCC2):c.2747+12A>G	ABCC2, LOC126861012	Single nucleotide variant (intron variant)	Dubin-Johnson syndrome	GUncertain significance
Select item 879762	NM_000392.5(ABCC2):c.1209+14G>A	ABCC2	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 879761	NM_000392.5(ABCC2):c.1179G>A (p.Arg393=)	ABCC2	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 879701	NM_000392.5(ABCC2):c.-40T>C	ABCC2	Single nucleotide variant (5 prime UTR variant)	Dubin-Johnson syndrome	GUncertain significance
Select item 879700	NM_000392.5(ABCC2):c.-89G>A	ABCC2	Single nucleotide variant (5 prime UTR variant)	Dubin-Johnson syndrome	GUncertain significance
Select item 879536	NM_000392.5(ABCC2):c.*205C>T	ABCC2	Single nucleotide variant (3 prime UTR variant)	Dubin-Johnson syndrome	GUncertain significance
Select item 879535	NM_000392.5(ABCC2):c.*201C>T	ABCC2	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 879534	NM_000392.5(ABCC2):c.*138T>C	ABCC2	Single nucleotide variant (3 prime UTR variant)	Dubin-Johnson syndrome	GUncertain significance
Select item 879487	NM_000392.5(ABCC2):c.3542G>A (p.Arg1181Gln)	ABCC2 (R1181Q)	Single nucleotide variant (missense variant)	Dubin-Johnson syndrome	GUncertain significance
Select item 879486	NM_000392.5(ABCC2):c.3259-11C>T	ABCC2, LOC126861013	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 879429	NM_000392.5(ABCC2):c.2439+12T>C	ABCC2	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 879428	NM_000392.5(ABCC2):c.2366C>T (p.Ser789Phe)	ABCC2 (S789F)	Single nucleotide variant (missense variant)	Dubin-Johnson syndrome +1 more	GConflicting classifications of pathogenicity
Select item 879427	NM_000392.5(ABCC2):c.2296A>C (p.Lys766Gln)	ABCC2 (K766Q)	Single nucleotide variant (missense variant)	Dubin-Johnson syndrome	GUncertain significance
Select item 879426	NM_000392.5(ABCC2):c.2155A>G (p.Ile719Val)	ABCC2 (I719V)	Single nucleotide variant (missense variant)	Dubin-Johnson syndrome	GUncertain significance
Select item 879425	NM_000392.5(ABCC2):c.2076C>T (p.His692=)	ABCC2	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 878788	NM_000392.5(ABCC2):c.677T>A (p.Val226Asp)	ABCC2 (V226D)	Single nucleotide variant (missense variant)	Dubin-Johnson syndrome	GUncertain significance
Select item 878787	NM_000392.5(ABCC2):c.606T>C (p.Ser202=)	ABCC2	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 878786	NM_000392.5(ABCC2):c.214G>A (p.Val72Ile)	ABCC2 (V72I)	Single nucleotide variant (missense variant)	Dubin-Johnson syndrome	GUncertain significance
Select item 878785	NM_000392.5(ABCC2):c.169A>C (p.Lys57Gln)	ABCC2, LOC108281165 (K57Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 878075	NM_000392.5(ABCC2):c.4443C>T (p.Asn1481=)	ABCC2	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 878074	NM_000392.5(ABCC2):c.4313+11A>C	ABCC2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 877967	NM_000392.5(ABCC2):c.2020G>A (p.Gly674Ser)	ABCC2 (G674S)	Single nucleotide variant (missense variant)	Dubin-Johnson syndrome	GUncertain significance
Select item 877966	NM_000392.5(ABCC2):c.1855G>T (p.Gly619Trp)	ABCC2 (G619W)	Single nucleotide variant (missense variant)	Dubin-Johnson syndrome	GUncertain significance
Select item 877965	NM_000392.5(ABCC2):c.1783A>G (p.Met595Val)	ABCC2 (M595V)	Single nucleotide variant (missense variant)	Dubin-Johnson syndrome	GUncertain significance
Select item 877964	NM_000392.5(ABCC2):c.1658C>T (p.Thr553Ile)	ABCC2 (T553I)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 877863	NM_000392.5(ABCC2):c.3025A>G (p.Ile1009Val)	ABCC2 (I1009V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 877862	NM_000392.5(ABCC2):c.2964G>T (p.Met988Ile)	ABCC2 (M988I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 877802	NM_000392.5(ABCC2):c.1389C>T (p.Val463=)	ABCC2	Single nucleotide variant (synonymous variant)	Dubin-Johnson syndrome	GUncertain significance
Select item 877801	NM_000392.5(ABCC2):c.1312A>G (p.Met438Val)	ABCC2 (M438V)	Single nucleotide variant (missense variant)	Dubin-Johnson syndrome	GUncertain significance
Select item 877757	NM_000392.5(ABCC2):c.56C>T (p.Pro19Leu)	LOC108281165, ABCC2 (P19L)	Single nucleotide variant (missense variant)	Dubin-Johnson syndrome +1 more	GUncertain significance
Select item 877756	NM_000392.5(ABCC2):c.-23G>A	ABCC2	Single nucleotide variant (5 prime UTR variant)	Dubin-Johnson syndrome	GBenign
Select item 818031	NM_000392.5(ABCC2):c.4239_4240dup (p.His1414fs)	ABCC2 (H1414fs)	Duplication (frameshift variant)	not provided +1 more	GPathogenic
Select item 802627	NM_000392.5(ABCC2):c.116A>T (p.Tyr39Phe)	LOC108281165, ABCC2 (Y39F)	Single nucleotide variant (missense variant)	Dubin-Johnson syndrome +1 more	GBenign
Select item 783579	NM_000392.5(ABCC2):c.3817A>G (p.Thr1273Ala)	ABCC2 (T1273A)	Single nucleotide variant (missense variant)	Dubin-Johnson syndrome +1 more	GBenign/Likely benign
Select item 773519	NM_000392.5(ABCC2):c.2761G>A (p.Gly921Ser)	ABCC2, LOC126861012 (G921S)	Single nucleotide variant (missense variant)	Dubin-Johnson syndrome +1 more	GBenign
Select item 771742	NM_000392.5(ABCC2):c.3396T>C (p.Ile1132=)	ABCC2, LOC126861013	Single nucleotide variant (synonymous variant)	Dubin-Johnson syndrome +1 more	GBenign
Select item 738115	NM_000392.5(ABCC2):c.3147C>T (p.Phe1049=)	ABCC2	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 732860	NM_000392.5(ABCC2):c.2934G>A (p.Ser978=)	ABCC2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 724590	NM_000392.5(ABCC2):c.4568A>C (p.Gln1523Pro)	ABCC2 (Q1523P)	Single nucleotide variant (missense variant)	Dubin-Johnson syndrome +1 more	GBenign
Select item 708493	NM_000392.5(ABCC2):c.34-8G>A	ABCC2, LOC108281165	Single nucleotide variant (intron variant)	Dubin-Johnson syndrome +1 more	GConflicting classifications of pathogenicity
Select item 707868	NM_000392.5(ABCC2):c.2009T>C (p.Ile670Thr)	ABCC2 (I670T)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 692030	NM_000392.5(ABCC2):c.3851G>A (p.Trp1284Ter)	ABCC2 (W1284*)	Single nucleotide variant (nonsense)	Dubin-Johnson syndrome	GPathogenic
Select item 632123	NM_000392.5(ABCC2):c.3104-1G>A	ABCC2	Single nucleotide variant (splice acceptor variant)	Dubin-Johnson syndrome +1 more	GConflicting classifications of pathogenicity
Select item 632122	NM_000392.5(ABCC2):c.2997G>A (p.Trp999Ter)	ABCC2 (W999*)	Single nucleotide variant (nonsense)	Dubin-Johnson syndrome	GUncertain significance
Select item 631621	NM_000392.5(ABCC2):c.411del (p.Leu138fs)	ABCC2 (L138fs)	Deletion (frameshift variant)	Dubin-Johnson syndrome	GUncertain significance
Select item 598397	NM_000392.5(ABCC2):c.1434G>A (p.Ala478=)	ABCC2	Single nucleotide variant (synonymous variant)	Dubin-Johnson syndrome +1 more	GConflicting classifications of pathogenicity
Select item 598367	NM_000392.5(ABCC2):c.2443C>T (p.Arg815Ter)	ABCC2 (R815*)	Single nucleotide variant (nonsense)	Dubin-Johnson syndrome +1 more	GPathogenic
Select item 598277	NM_000392.5(ABCC2):c.2077G>A (p.Gly693Arg)	ABCC2 (G693R)	Single nucleotide variant (missense variant)	Dubin-Johnson syndrome +1 more	GConflicting classifications of pathogenicity
Select item 597298	NM_000392.5(ABCC2):c.1586G>A (p.Arg529Gln)	ABCC2 (R529Q)	Single nucleotide variant (missense variant)	Dubin-Johnson syndrome +1 more	GConflicting classifications of pathogenicity
Select item 597271	NM_000392.5(ABCC2):c.2963T>A (p.Met988Lys)	ABCC2 (M988K)	Single nucleotide variant (missense variant)	Dubin-Johnson syndrome +1 more	GUncertain significance
Select item 597092	NM_000392.5(ABCC2):c.23C>T (p.Ser8Phe)	ABCC2 (S8F)	Single nucleotide variant (missense variant)	Dubin-Johnson syndrome +1 more	GUncertain significance
Select item 596836	NM_000392.5(ABCC2):c.517G>A (p.Gly173Arg)	ABCC2 (G173R)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 596096	NM_000392.5(ABCC2):c.2911C>G (p.Leu971Val)	ABCC2 (L971V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 595823	NM_000392.5(ABCC2):c.3834G>A (p.Val1278=)	ABCC2	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 595090	NM_000392.5(ABCC2):c.3741+1G>T	ABCC2	Single nucleotide variant (splice donor variant)	Dubin-Johnson syndrome +1 more	GPathogenic/Likely pathogenic
Select item 594246	NM_000392.5(ABCC2):c.1325G>A (p.Trp442Ter)	ABCC2 (W442*)	Single nucleotide variant (nonsense)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 593217	NM_000392.5(ABCC2):c.2093A>G (p.Lys698Arg)	ABCC2 (K698R)	Single nucleotide variant (missense variant)	Dubin-Johnson syndrome +2 more	GUncertain significance
Select item 592313	NM_000392.5(ABCC2):c.3057G>C (p.Gln1019His)	ABCC2 (Q1019H)	Single nucleotide variant (missense variant)	Dubin-Johnson syndrome +1 more	GConflicting classifications of pathogenicity
Select item 502280	NM_000392.5(ABCC2):c.1696G>A (p.Val566Ile)	ABCC2 (V566I)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 502064	NM_000392.5(ABCC2):c.1457C>T (p.Thr486Ile)	ABCC2 (T486I)	Single nucleotide variant (missense variant)	Dubin-Johnson syndrome +1 more	GConflicting classifications of pathogenicity
Select item 500956	NM_000392.5(ABCC2):c.2755T>A (p.Ser919Thr)	ABCC2, LOC126861012 (S919T)	Single nucleotide variant (missense variant)	Dubin-Johnson syndrome +1 more	GUncertain significance
Select item 500796	NM_000392.5(ABCC2):c.3521G>A (p.Arg1174His)	ABCC2 (R1174H)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 500765	NM_000392.5(ABCC2):c.3008G>T (p.Trp1003Leu)	ABCC2 (W1003L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 500162	NM_000392.5(ABCC2):c.736A>C (p.Met246Leu)	ABCC2 (M246L)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 499389	NM_000392.5(ABCC2):c.998A>G (p.Asp333Gly)	ABCC2 (D333G)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 498612	NM_000392.5(ABCC2):c.2955G>A (p.Ala985=)	ABCC2	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 498429	NM_000392.5(ABCC2):c.3258+1G>A	ABCC2	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 498042	NM_000392.5(ABCC2):c.3236G>A (p.Arg1079Gln)	ABCC2 (R1079Q)	Single nucleotide variant (missense variant)	Dubin-Johnson syndrome +1 more	GUncertain significance
Select item 497221	NM_000392.5(ABCC2):c.1177C>T (p.Arg393Trp)	ABCC2 (R393W)	Single nucleotide variant (missense variant)	Dubin-Johnson syndrome +1 more	GPathogenic/Likely pathogenic
Select item 497084	NM_000392.5(ABCC2):c.3298C>T (p.Arg1100Cys)	ABCC2, LOC126861013 (R1100C)	Single nucleotide variant (missense variant)	Dubin-Johnson syndrome +1 more	GUncertain significance
Select item 426249	NM_000392.5(ABCC2):c.3337del (p.Val1114fs)	ABCC2, LOC126861013 (V1114fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 298483	NM_000392.5(ABCC2):c.*259G>T	ABCC2	Single nucleotide variant (3 prime UTR variant)	Dubin-Johnson syndrome	GLikely benign
Select item 298482	NM_000392.5(ABCC2):c.*116del	ABCC2	Deletion (3 prime UTR variant)	Dubin-Johnson syndrome	GUncertain significance

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