ABCC2[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 298436	NM_000392.5(ABCC2):c.-43A>G	ABCC2	Single nucleotide variant (5 prime UTR variant)	Dubin-Johnson syndrome	GUncertain significance
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 298437	NM_000392.5(ABCC2):c.-24C>T	ABCC2	Single nucleotide variant (5 prime UTR variant)	not provided +2 more	GBenign
Select item 877756	NM_000392.5(ABCC2):c.-23G>A	ABCC2	Single nucleotide variant (5 prime UTR variant)	Dubin-Johnson syndrome	GBenign
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 2790336	NM_000392.5(ABCC2):c.4C>T (p.Leu2=)	ABCC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2887901	NM_000392.5(ABCC2):c.6G>A (p.Leu2=)	ABCC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2995854	NM_000392.5(ABCC2):c.27T>A (p.Thr9=)	ABCC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2999169	NM_000392.5(ABCC2):c.33+2T>C	ABCC2	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2707602	NM_000392.5(ABCC2):c.33+7A>T	ABCC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 298438	NM_000392.5(ABCC2):c.33+13A>G	ABCC2	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2793804	NM_000392.5(ABCC2):c.33+18T>C	ABCC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1188879	NM_000392.5(ABCC2):c.208-89C>T	ABCC2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 2752340	NM_000392.5(ABCC2):c.208-20T>C	ABCC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2717213	NM_000392.5(ABCC2):c.208-11T>C	ABCC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 498432	NM_000392.5(ABCC2):c.208G>A (p.Val70Ile)	ABCC2 (V70I)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2621033	NM_000392.5(ABCC2):c.209T>G (p.Val70Gly)	ABCC2 (V70G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 595862	NM_000392.5(ABCC2):c.213C>T (p.Phe71=)	ABCC2	Single nucleotide variant (synonymous variant)	not provided	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 2272933	NM_000392.5(ABCC2):c.215T>C (p.Val72Ala)	ABCC2 (V72A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2917353	NM_000392.5(ABCC2):c.225T>C (p.Leu75=)	ABCC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 596849	NM_000392.5(ABCC2):c.232C>T (p.Leu78=)	ABCC2	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 2475168	NM_000392.5(ABCC2):c.253C>G (p.Leu85Val)	ABCC2 (L85V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2874034	NM_000392.5(ABCC2):c.255T>A (p.Leu85=)	ABCC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 196264	NM_000392.5(ABCC2):c.258A>G (p.Val86=)	ABCC2	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 594302	NM_000392.5(ABCC2):c.263C>A (p.Thr88Lys)	ABCC2 (T88K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2700973	NM_000392.5(ABCC2):c.282C>T (p.Ala94=)	ABCC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2735464	NM_000392.5(ABCC2):c.298C>T (p.Arg100Ter)	ABCC2 (R100*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2268097	NM_000392.5(ABCC2):c.299G>C (p.Arg100Pro)	ABCC2 (R100P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 498959	NM_000392.5(ABCC2):c.306C>A (p.Thr102=)	ABCC2	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 2965051	NM_000392.5(ABCC2):c.321C>T (p.Tyr107=)	ABCC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 596652	NM_000392.5(ABCC2):c.330A>G (p.Thr110=)	ABCC2	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
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 2900663	NM_000392.5(ABCC2):c.333+9T>C	ABCC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2966832	NM_000392.5(ABCC2):c.333+14C>A	ABCC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2833592	NM_000392.5(ABCC2):c.333+16C>T	ABCC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1272403	NM_000392.5(ABCC2):c.334-49C>T	ABCC2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3005955	NM_000392.5(ABCC2):c.334-20T>A	ABCC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2967678	NM_000392.5(ABCC2):c.334-13A>C	ABCC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2640751	NM_000392.5(ABCC2):c.334-3C>T	ABCC2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2823471	NM_000392.5(ABCC2):c.334-2A>G	ABCC2	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
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 2719694	NM_000392.5(ABCC2):c.339G>C (p.Leu113=)	ABCC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 500775	NM_000392.5(ABCC2):c.339G>A (p.Leu113=)	ABCC2	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
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 1333210	NM_000392.5(ABCC2):c.351_355dup (p.Tyr119fs)	ABCC2 (Y119fs)	Duplication (frameshift variant)	Dubin-Johnson syndrome	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 2412109	NM_000392.5(ABCC2):c.371G>T (p.Cys124Phe)	ABCC2 (C124F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3001799	NM_000392.5(ABCC2):c.387C>T (p.Ser129=)	ABCC2	Single nucleotide variant (synonymous variant)	not provided	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 596941	NM_000392.5(ABCC2):c.400C>T (p.Leu134=)	ABCC2	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2963316	NM_000392.5(ABCC2):c.402A>G (p.Leu134=)	ABCC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2623266	NM_000392.5(ABCC2):c.403T>C (p.Phe135Leu)	ABCC2 (F135L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2841160	NM_000392.5(ABCC2):c.407G>A (p.Trp136Ter)	ABCC2 (W136*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 631621	NM_000392.5(ABCC2):c.411del (p.Leu138fs)	ABCC2 (L138fs)	Deletion (frameshift 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 2400270	NM_000392.5(ABCC2):c.416C>T (p.Ser139Leu)	ABCC2 (S139L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2961440	NM_000392.5(ABCC2):c.417G>A (p.Ser139=)	ABCC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 597677	NM_000392.5(ABCC2):c.417G>T (p.Ser139=)	ABCC2	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
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 2785931	NM_000392.5(ABCC2):c.438A>G (p.Gln146=)	ABCC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2372103	NM_000392.5(ABCC2):c.454C>T (p.Arg152Trp)	ABCC2 (R152W)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
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 2817497	NM_000392.5(ABCC2):c.459A>G (p.Thr153=)	ABCC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3003728	NM_000392.5(ABCC2):c.462C>A (p.Leu154=)	ABCC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2319943	NM_000392.5(ABCC2):c.464T>C (p.Leu155Ser)	ABCC2 (L155S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2862594	NM_000392.5(ABCC2):c.466C>T (p.Gln156Ter)	ABCC2 (Q156*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2715063	NM_000392.5(ABCC2):c.468+13del	ABCC2	Deletion (intron variant)	not provided	GBenign
Select item 2705953	NM_000392.5(ABCC2):c.468+9A>G	ABCC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2710913	NM_000392.5(ABCC2):c.468+12A>G	ABCC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2780899	NM_000392.5(ABCC2):c.468+19G>T	ABCC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2994378	NM_000392.5(ABCC2):c.469-20C>G	ABCC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2835292	NM_000392.5(ABCC2):c.469-18T>C	ABCC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3007436	NM_000392.5(ABCC2):c.469-16G>T	ABCC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2988537	NM_000392.5(ABCC2):c.469-9del	ABCC2	Deletion (intron variant)	not provided	GBenign
Select item 2988538	NM_000392.5(ABCC2):c.469-14T>C	ABCC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2840500	NM_000392.5(ABCC2):c.469-13T>C	ABCC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 291147	NM_000392.5(ABCC2):c.469-9T>C	ABCC2	Single nucleotide variant (intron variant)	not provided	GConflicting classifications of pathogenicity
Select item 2978385	NM_000392.5(ABCC2):c.469-5C>T	ABCC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2888925	NM_000392.5(ABCC2):c.469-4A>G	ABCC2	Single nucleotide variant (intron variant)	not provided	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 2782109	NM_000392.5(ABCC2):c.469-2A>G	ABCC2	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2869706	NM_000392.5(ABCC2):c.469-1G>A	ABCC2	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2827990	NM_000392.5(ABCC2):c.469-1G>T	ABCC2	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 500575	NM_000392.5(ABCC2):c.470G>T (p.Gly157Val)	ABCC2 (G157V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 501700	NM_000392.5(ABCC2):c.476del (p.Asn159fs)	ABCC2 (N159fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2962840	NM_000392.5(ABCC2):c.480T>A (p.Ser160=)	ABCC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2834266	NM_000392.5(ABCC2):c.484C>T (p.Leu162=)	ABCC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2827127	NM_000392.5(ABCC2):c.486A>G (p.Leu162=)	ABCC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2827853	NM_000392.5(ABCC2):c.489C>G (p.Ala163=)	ABCC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2990590	NM_000392.5(ABCC2):c.492C>T (p.Tyr164=)	ABCC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2087674	NM_000392.5(ABCC2):c.513del (p.Tyr172fs)	ABCC2 (Y172fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2428308	NM_000392.5(ABCC2):c.516C>T (p.Tyr172=)	ABCC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2789139	NM_000392.5(ABCC2):c.519A>G (p.Gly173=)	ABCC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2734835	NM_000392.5(ABCC2):c.537G>C (p.Leu179=)	ABCC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2252839	NM_000392.5(ABCC2):c.544T>G (p.Ser182Ala)	ABCC2 (S182A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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