ABCC4[gene] and "single gene"[properties] - ClinVar

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

Search results

Items: 73

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2576480	NM_005845.5(ABCC4):c.3970G>A (p.Ala1324Thr)	ABCC4 (A1277T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128420	NM_005845.5(ABCC4):c.3947C>T (p.Ser1316Leu)	ABCC4 (S1316L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606995	NM_005845.5(ABCC4):c.3944C>T (p.Pro1315Leu)	ABCC4 (P1268L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3302413	NM_005845.5(ABCC4):c.3913C>T (p.His1305Tyr)	ABCC4 (H1305Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128410	NM_005845.5(ABCC4):c.3896A>G (p.His1299Arg)	ABCC4 (H1299R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3059729	NM_005845.5(ABCC4):c.3871-5dup	ABCC4	Duplication (intron variant)	ABCC4-related disorder	GLikely benign
Select item 3301916	NM_005845.5(ABCC4):c.3844G>A (p.Ala1282Thr)	ABCC4 (A1282T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292038	NM_005845.5(ABCC4):c.3838G>A (p.Glu1280Lys)	ABCC4 (E1233K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3302323	NM_005845.5(ABCC4):c.3775T>G (p.Tyr1259Asp)	ABCC4 (Y1212D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1707637	NM_005845.5(ABCC4):c.3735+2T>C	ABCC4	Single nucleotide variant (splice donor variant)	not provided	Gnot provided
Select item 3302016	NM_005845.5(ABCC4):c.3595A>G (p.Ile1199Val)	ABCC4 (I1152V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 713177	NM_005845.5(ABCC4):c.3425C>T (p.Thr1142Met)	ABCC4 (T1095M +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2331373	NM_005845.5(ABCC4):c.3367G>A (p.Glu1123Lys)	ABCC4 (E1076K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518089	NM_005845.5(ABCC4):c.3362C>T (p.Pro1121Leu)	ABCC4 (P1074L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345239	NM_005845.5(ABCC4):c.3283G>A (p.Glu1095Lys)	ABCC4 (E1048K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 726207	NM_005845.5(ABCC4):c.3255C>A (p.Ile1085=)	ABCC4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3128398	NM_005845.5(ABCC4):c.3229A>T (p.Thr1077Ser)	ABCC4 (T1030S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244566	NM_005845.5(ABCC4):c.3055C>G (p.Leu1019Val)	ABCC4 (L972V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317427	NM_005845.5(ABCC4):c.3011A>C (p.Glu1004Ala)	ABCC4 (E1004A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334668	NM_005845.5(ABCC4):c.2996A>C (p.Gln999Pro)	ABCC4 (Q999P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350009	NM_005845.5(ABCC4):c.2852G>A (p.Arg951His)	ABCC4 (R951H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611398	NM_005845.5(ABCC4):c.2851C>T (p.Arg951Cys)	ABCC4 (R951C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287773	NM_005845.5(ABCC4):c.2744G>A (p.Arg915Gln)	ABCC4 (R868Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3301671	NM_005845.5(ABCC4):c.2690G>A (p.Arg897Gln)	ABCC4 (R850Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128375	NM_005845.5(ABCC4):c.2689C>G (p.Arg897Gly)	ABCC4 (R850G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 219333	NM_005845.5(ABCC4):c.2672G>T (p.Arg891Leu)	ABCC4 (R844L +1 more)	Single nucleotide variant (missense variant)	Malignant tumor of prostate	GUncertain significance
Select item 752579	NM_005845.5(ABCC4):c.2655G>A (p.Thr885=)	ABCC4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 718083	NM_005845.5(ABCC4):c.2596A>G (p.Ile866Val)	ABCC4 (I819V +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2545954	NM_005845.5(ABCC4):c.2587T>G (p.Trp863Gly)	ABCC4 (W816G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291563	NM_005845.5(ABCC4):c.2516C>T (p.Thr839Met)	ABCC4 (T764M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3256267	NM_005845.5(ABCC4):c.2471G>A (p.Arg824His)	ABCC4 (R749H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212161	NM_005845.5(ABCC4):c.2363A>G (p.Tyr788Cys)	ABCC4 (Y788C +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 786614	NM_005845.5(ABCC4):c.2230A>G (p.Met744Val)	ABCC4 (M744V +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3302236	NM_005845.5(ABCC4):c.2147T>A (p.Phe716Tyr)	ABCC4 (F641Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3302150	NM_005845.5(ABCC4):c.2111A>G (p.Tyr704Cys)	ABCC4 (Y629C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2518169	NM_005845.5(ABCC4):c.2107A>T (p.Asn703Tyr)	ABCC4 (N628Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 779444	NM_005845.5(ABCC4):c.2100C>T (p.Ala700=)	ABCC4	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1701802	NM_005845.5(ABCC4):c.2034+1G>T	ABCC4	Single nucleotide variant (splice donor variant)	not provided	Gnot provided
Select item 3128355	NM_005845.5(ABCC4):c.2018C>T (p.Ala673Val)	ABCC4 (A598V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2643875	NM_005845.5(ABCC4):c.1986A>G (p.Gln662=)	ABCC4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2262194	NM_005845.5(ABCC4):c.1858T>C (p.Phe620Leu)	ABCC4 (F620L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3301779	NM_005845.5(ABCC4):c.1834G>T (p.Val612Leu)	ABCC4 (V612L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 717315	NM_005845.5(ABCC4):c.1825-7A>G	ABCC4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 736789	NM_005845.5(ABCC4):c.1737T>C (p.Cys579=)	ABCC4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2222516	NM_005845.5(ABCC4):c.1702G>A (p.Glu568Lys)	ABCC4 (E568K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 161513	NM_005845.5(ABCC4):c.1645G>T (p.Val549Leu)	ABCC4 (V549L +1 more)	Single nucleotide variant (missense variant)	Malignant tumor of prostate	GUncertain significance
Select item 3128346	NM_005845.5(ABCC4):c.1554G>T (p.Gln518His)	ABCC4 (Q518H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253273	NM_005845.5(ABCC4):c.1526A>C (p.Lys509Thr)	ABCC4 (K509T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 776802	NM_005845.5(ABCC4):c.1492A>G (p.Lys498Glu)	ABCC4 (K498E +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 717558	NM_005845.5(ABCC4):c.1458G>A (p.Ser486=)	ABCC4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2295927	NM_005845.5(ABCC4):c.1453T>G (p.Phe485Val)	ABCC4 (F410V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3301484	NM_005845.5(ABCC4):c.1411G>A (p.Val471Met)	ABCC4 (V396M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557749	NM_005845.5(ABCC4):c.1301C>T (p.Thr434Ile)	ABCC4 (T359I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3041539	NM_005845.5(ABCC4):c.1208C>T (p.Pro403Leu)	ABCC4 (P328L +1 more)	Single nucleotide variant (missense variant)	ABCC4-related disorder	GLikely benign
Select item 3302077	NM_005845.5(ABCC4):c.1190A>G (p.Gln397Arg)	ABCC4 (Q397R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290926	NM_005845.5(ABCC4):c.1186T>G (p.Ser396Ala)	ABCC4 (S396A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3357176	NM_005845.5(ABCC4):c.1141G>A (p.Val381Ile)	ABCC4 (V306I +1 more)	Single nucleotide variant (missense variant)	ABCC4-related disorder	GLikely benign
Select item 2216285	NM_005845.5(ABCC4):c.1057G>A (p.Val353Met)	ABCC4 (V278M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261527	NM_005845.5(ABCC4):c.880T>C (p.Ser294Pro)	ABCC4 (S219P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290471	NM_005845.5(ABCC4):c.796G>C (p.Ala266Pro)	ABCC4 (A191P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128432	NM_005845.5(ABCC4):c.607A>C (p.Asn203His)	ABCC4 (N203H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128430	NM_005845.5(ABCC4):c.571A>G (p.Thr191Ala)	ABCC4 (T191A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 712838	NM_005845.5(ABCC4):c.551T>C (p.Met184Thr)	ABCC4 (M184T +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2510603	NM_005845.5(ABCC4):c.539G>A (p.Arg180His)	ABCC4 (R105H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 781122	NM_005845.5(ABCC4):c.307-10C>T	ABCC4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3128379	NM_005845.5(ABCC4):c.281T>C (p.Val94Ala)	ABCC4 (V94A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539809	NM_005845.5(ABCC4):c.246A>C (p.Arg82Ser)	ABCC4 (R82S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128364	NM_005845.5(ABCC4):c.223G>A (p.Ala75Thr)	ABCC4 (A75T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 776803	NM_005845.5(ABCC4):c.185+7C>T	ABCC4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3128341	NM_005845.5(ABCC4):c.151G>T (p.Asp51Tyr)	ABCC4 (D51Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543505	NM_005845.5(ABCC4):c.132G>A (p.Met44Ile)	ABCC4 (M44I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 762266	NM_005845.5(ABCC4):c.39G>C (p.Leu13=)	ABCC4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 221862	GRCh37/hg19 13q32.1(chr13:95937149-96030662)x3	ABCC4	Copy number gain	Premature ovarian failure	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: 73