"GeneDx"[submitter] AND "ABCC2"[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 65

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58777	GRCh38/hg38 10q23.33-24.32(chr10:93181201-101356779)x1	LOC130004555, LOC130004556 +375 more	Copy number loss	See cases	GPathogenic
Select item 57907	GRCh38/hg38 10q24.2-24.31(chr10:99333940-100475567)x3	LOC126861015, LOC129390222 +63 more	Copy number gain	See cases	GUncertain significance
Select item 57908	GRCh38/hg38 10q24.2(chr10:99716324-99999957)x3	ABCC2, COX15 +14 more	Copy number gain	See cases	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 1188879	NM_000392.5(ABCC2):c.208-89C>T	ABCC2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1272403	NM_000392.5(ABCC2):c.334-49C>T	ABCC2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1265378	NM_000392.5(ABCC2):c.576+155_576+157dup	ABCC2	Duplication (intron variant)	not provided	GBenign
Select item 1242334	NM_000392.5(ABCC2):c.867+241A>C	ABCC2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1233362	NM_000392.5(ABCC2):c.868-218G>T	ABCC2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1288501	NM_000392.5(ABCC2):c.1031+288A>G	ABCC2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 255992	NM_000392.5(ABCC2):c.1249G>A (p.Val417Ile)	ABCC2 (V417I)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 1282159	NM_000392.5(ABCC2):c.1531-275T>A	ABCC2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1289402	NM_000392.5(ABCC2):c.1668+148A>G	ABCC2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1289914	NM_000392.5(ABCC2):c.1668+223C>A	ABCC2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1235189	NM_000392.5(ABCC2):c.1669-220A>C	ABCC2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1181335	NM_000392.5(ABCC2):c.1669-168G>A	ABCC2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1254550	NM_000392.5(ABCC2):c.1815+27C>G	ABCC2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1275681	NM_000392.5(ABCC2):c.1900+22T>C	ABCC2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1232107	NM_000392.5(ABCC2):c.1901-300C>A	ABCC2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1259588	NM_000392.5(ABCC2):c.1901-194del	ABCC2	Deletion (intron variant)	not provided	GBenign
Select item 1254576	NM_000392.5(ABCC2):c.1967+169C>T	ABCC2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1270708	NM_000392.5(ABCC2):c.2095-105T>C	ABCC2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1244543	NM_000392.5(ABCC2):c.2095-47G>A	ABCC2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 680397	NM_000392.5(ABCC2):c.2252T>G (p.Leu751Trp)	ABCC2 (L751W)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1262856	NM_000392.5(ABCC2):c.2272-230C>T	ABCC2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 191014	NM_000392.5(ABCC2):c.2273G>T (p.Gly758Val)	ABCC2 (G758V)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1234953	NM_000392.5(ABCC2):c.2621-139G>A	ABCC2, LOC126861012	Single nucleotide variant (intron variant)	not provided	GBenign
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 1188977	NM_000392.5(ABCC2):c.3258+56T>C	ABCC2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1266342	NM_000392.5(ABCC2):c.3258+271_3258+272del	ABCC2	Deletion (intron variant)	not provided	GBenign
Select item 1221156	NM_000392.5(ABCC2):c.3258+271_3258+272insTGTGTGT	ABCC2	Insertion (intron variant)	not provided	GBenign
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 1269200	NM_000392.5(ABCC2):c.3414+117G>T	ABCC2, LOC126861013	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 593738	NM_000392.5(ABCC2):c.3538C>T (p.Gln1180Ter)	ABCC2 (Q1180*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 195851	NM_000392.5(ABCC2):c.3542G>T (p.Arg1181Leu)	ABCC2 (R1181L)	Single nucleotide variant (missense variant)	Dubin-Johnson syndrome +2 more	GBenign/Likely benign
Select item 298467	NM_000392.5(ABCC2):c.3563T>A (p.Val1188Glu)	ABCC2 (V1188E)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1178716	NM_000392.5(ABCC2):c.3615-310T>C	ABCC2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1220906	NM_000392.5(ABCC2):c.3615-60T>C	ABCC2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1273142	NM_000392.5(ABCC2):c.3741+154T>C	ABCC2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1265582	NM_000392.5(ABCC2):c.3742-34T>C	ABCC2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1275707	NM_000392.5(ABCC2):c.3843+124C>G	ABCC2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1262362	NM_000392.5(ABCC2):c.3844-73A>G	ABCC2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 196101	NM_000392.5(ABCC2):c.3972C>T (p.Ile1324=)	ABCC2	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 1268650	NM_000392.5(ABCC2):c.3987+259T>C	ABCC2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 298472	NM_000392.5(ABCC2):c.4062C>T (p.Ala1354=)	ABCC2	Single nucleotide variant (synonymous variant)	Dubin-Johnson syndrome +1 more	GBenign/Likely benign
Select item 298473	NM_000392.5(ABCC2):c.4110C>T (p.Leu1370=)	ABCC2	Single nucleotide variant (synonymous variant)	Dubin-Johnson syndrome +1 more	GBenign
Select item 298474	NM_000392.5(ABCC2):c.4146+11G>C	ABCC2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1181401	NM_000392.5(ABCC2):c.4146+154A>G	ABCC2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1234488	NM_000392.5(ABCC2):c.4147-268T>C	ABCC2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1269976	NM_000392.5(ABCC2):c.4147-182C>G	ABCC2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1267436	NM_000392.5(ABCC2):c.4147-175G>C	ABCC2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1243670	NM_000392.5(ABCC2):c.4147-35G>A	ABCC2	Single nucleotide variant (intron variant)	not provided	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 298475	NM_000392.5(ABCC2):c.4290G>T (p.Val1430=)	ABCC2	Single nucleotide variant (synonymous variant)	Dubin-Johnson syndrome +1 more	GBenign
Select item 1225231	NM_000392.5(ABCC2):c.4313+147C>G	ABCC2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1262400	NM_000392.5(ABCC2):c.4313+213G>A	ABCC2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1246369	NM_000392.5(ABCC2):c.4314-256G>A	ABCC2, LOC124416888	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 290967	NM_000392.5(ABCC2):c.4348G>T (p.Ala1450Ser)	ABCC2 (A1450S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 298476	NM_000392.5(ABCC2):c.4410G>A (p.Glu1470=)	ABCC2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 298479	NM_000392.5(ABCC2):c.4488C>T (p.His1496=)	ABCC2	Single nucleotide variant (synonymous variant)	Dubin-Johnson syndrome +1 more	GBenign
Select item 298480	NM_000392.5(ABCC2):c.4508+12G>A	ABCC2	Single nucleotide variant (intron variant)	Dubin-Johnson syndrome +1 more	GBenign
Select item 1180976	NM_000392.5(ABCC2):c.4508+170A>G	ABCC2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1288000	NM_000392.5(ABCC2):c.4509-266C>A	ABCC2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1273378	NM_000392.5(ABCC2):c.4509-90A>G	ABCC2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 298481	NM_000392.5(ABCC2):c.4544G>A (p.Cys1515Tyr)	ABCC2 (C1515Y)	Single nucleotide variant (missense variant)	Dubin-Johnson syndrome +1 more	GBenign

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 65