"Mayo Clinic Laboratories, Mayo Clinic"[submitter] AND "ABCC2"[gene] - ClinVar

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Items: 32

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 2982291	NM_000392.5(ABCC2):c.333+1G>A	ABCC2	Single nucleotide variant (splice donor variant)	Dubin-Johnson syndrome +1 more	GLikely pathogenic
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 2515394	NM_000392.5(ABCC2):c.1034T>G (p.Leu345Trp)	ABCC2 (L345W)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 193811	NM_000392.5(ABCC2):c.1483A>G (p.Lys495Glu)	ABCC2 (K495E)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 298452	NM_000392.5(ABCC2):c.1602G>T (p.Lys534Asn)	ABCC2 (K534N)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 2634457	NM_000392.5(ABCC2):c.1644C>A (p.Phe548Leu)	ABCC2 (F548L)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 298454	NM_000392.5(ABCC2):c.1860T>A (p.Asp620Glu)	ABCC2 (D620E)	Single nucleotide variant (missense variant)	Dubin-Johnson syndrome +3 more	GUncertain significance
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 2683118	NM_000392.5(ABCC2):c.2057G>A (p.Gly686Glu)	ABCC2 (G686E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2683119	NM_000392.5(ABCC2):c.2455A>G (p.Thr819Ala)	ABCC2 (T819A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 298458	NM_000392.5(ABCC2):c.2588T>C (p.Leu863Pro)	ABCC2 (L863P)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2683120	NM_000392.5(ABCC2):c.2669G>A (p.Ser890Asn)	ABCC2, LOC126861012 (S890N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 502695	NM_000392.5(ABCC2):c.2714G>A (p.Arg905Lys)	ABCC2, LOC126861012 (R905K)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 501698	NM_000392.5(ABCC2):c.2732G>A (p.Arg911Gln)	LOC126861012, ABCC2 (R911Q)	Single nucleotide variant (missense variant)	ABCC2-related disorder +1 more	GUncertain significance
Select item 1694041	NM_000392.5(ABCC2):c.2922A>G (p.Ile974Met)	ABCC2 (I974M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 195648	NM_000392.5(ABCC2):c.3026T>C (p.Ile1009Thr)	ABCC2 (I1009T)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 195729	NM_000392.5(ABCC2):c.3107T>C (p.Ile1036Thr)	ABCC2 (I1036T)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
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 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 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 195800	NM_000392.5(ABCC2):c.3379G>A (p.Val1127Ile)	ABCC2, LOC126861013 (V1127I)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 298466	NM_000392.5(ABCC2):c.3500T>C (p.Val1167Ala)	ABCC2 (V1167A)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 500796	NM_000392.5(ABCC2):c.3521G>A (p.Arg1174His)	ABCC2 (R1174H)	Single nucleotide variant (missense variant)	Dubin-Johnson syndrome +1 more	GConflicting classifications of pathogenicity
Select item 290849	NM_000392.5(ABCC2):c.4071G>C (p.Gln1357His)	ABCC2 (Q1357H)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 502516	NM_000392.5(ABCC2):c.4175_4180del (p.Arg1392_Met1393del)	ABCC2	Deletion (inframe_deletion)	not provided	GConflicting classifications of pathogenicity
Select item 1694042	NM_000392.5(ABCC2):c.4220G>C (p.Trp1407Ser)	ABCC2 (W1407S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 196659	NM_000392.5(ABCC2):c.4314C>T (p.Ser1438=)	ABCC2	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 282962	NM_000392.5(ABCC2):c.4430C>T (p.Thr1477Met)	ABCC2 (T1477M)	Single nucleotide variant (missense variant)	Dubin-Johnson syndrome +1 more	GConflicting classifications of pathogenicity
Select item 497944	NM_000392.5(ABCC2):c.4495A>G (p.Met1499Val)	ABCC2 (M1499V)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity

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Items: 32