ABCC4[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146305	GRCh38/hg38 13q11-34(chr13:18445862-114327173)x1	LOC121466733, LOC121468000 +2048 more	Copy number loss	See cases	GPathogenic
Select item 151282	GRCh38/hg38 13q11-34(chr13:18456040-114340285)x3	LOC130010147, LOC130010148 +2049 more	Copy number gain	See cases	GPathogenic
Select item 59851	GRCh38/hg38 13q11-34(chr13:18565048-114327173)x3	LOC130009360, LOC130009361 +2047 more	Copy number gain	See cases	GPathogenic
Select item 59855	GRCh38/hg38 13q11-34(chr13:18850545-114327173)x3	LOC130009909, LOC130009910 +2044 more	Copy number gain	See cases	GPathogenic
Select item 155395	GRCh38/hg38 13q11-34(chr13:18862146-114342258)x3	LINC00333, LINC00343 +2045 more	Copy number gain	See cases	GPathogenic
Select item 59858	GRCh38/hg38 13q12.11-34(chr13:18946182-114304628)x3	LOC112163664, LOC112163665 +2040 more	Copy number gain	See cases	GPathogenic
Select item 154857	GRCh38/hg38 13q12.11-34(chr13:19671934-114340331)x3	LOC121838573, LOC121838574 +2028 more	Copy number gain	See cases	GPathogenic
Select item 150189	GRCh38/hg38 13q12.11-34(chr13:19833130-114327106)x3	URAD, USP12 +2024 more	Copy number gain	See cases	GPathogenic
Select item 144647	GRCh38/hg38 13q12.11-34(chr13:19833130-114298614)x3	LINC00462, LINC00463 +2021 more	Copy number gain	See cases	GPathogenic
Select item 160881	GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3	ABCC4, ABHD13 +2024 more	Copy number gain	See cases	GPathogenic
Select item 59863	GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3	ABCC4, ABHD13 +2024 more	Copy number gain	See cases	GPathogenic
Select item 59888	GRCh38/hg38 13q13.2-34(chr13:33528097-114327173)x3	SIAH3, SLAIN1 +1557 more	Copy number gain	See cases	GPathogenic
Select item 148828	GRCh38/hg38 13q14.11-34(chr13:40942298-114340331)x1	ABCC4, ABHD13 +1404 more	Copy number loss	See cases	GPathogenic
Select item 59893	GRCh38/hg38 13q14.11-34(chr13:44164751-114327173)x3	ABCC4, ABHD13 +1288 more	Copy number gain	See cases	GPathogenic
Select item 59896	GRCh38/hg38 13q14.12-34(chr13:44733046-114327173)x3	LINC00550, LINC00552 +1268 more	Copy number gain	See cases	GPathogenic
Select item 152729	GRCh38/hg38 13q31.1-34(chr13:78964223-114340331)x3	ABCC4, ABHD13 +706 more	Copy number gain	See cases	GPathogenic
Select item 149780	GRCh38/hg38 13q31.1-34(chr13:78999318-114327106)x3	ABCC4, ABHD13 +705 more	Copy number gain	See cases	GPathogenic
Select item 57470	GRCh38/hg38 13q31.1-33.2(chr13:82032938-106082542)x3	LOC130010067, LOC130010068 +344 more	Copy number gain	See cases	GPathogenic
Select item 153403	GRCh38/hg38 13q31.1-34(chr13:83288131-114342258)x3	LOC132090867, MBNL2 +663 more	Copy number gain	See cases	GPathogenic
Select item 149290	GRCh38/hg38 13q31.1-34(chr13:86788927-114340331)x1	ABCC4, ABHD13 +650 more	Copy number loss	See cases	GPathogenic
Select item 150153	GRCh38/hg38 13q31.2-32.3(chr13:87944479-99866542)x1	ABCC4, CLDN10 +236 more	Copy number loss	See cases	GPathogenic
Select item 57678	GRCh38/hg38 13q31.2-32.3(chr13:88323009-98888644)x1	ABCC4, CLDN10 +168 more	Copy number loss	See cases	GPathogenic
Select item 148008	GRCh38/hg38 13q31.2-34(chr13:88937651-114327173)x3	LOC130009970, LOC130009971 +638 more	Copy number gain	See cases	GPathogenic
Select item 57679	GRCh38/hg38 13q31.3-32.1(chr13:89549510-96657834)x1	ABCC4, CLDN10 +88 more	Copy number loss	See cases	GPathogenic
Select item 147510	GRCh38/hg38 13q31.3-33.3(chr13:93345058-109458154)x1	ABCC4, ABHD13 +348 more	Copy number loss	See cases	GPathogenic
Select item 57681	GRCh38/hg38 13q31.3-32.1(chr13:93571649-97428965)x1	ABCC4, CLDN10 +73 more	Copy number loss	See cases	GPathogenic
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 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 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 1707637	NM_005845.5(ABCC4):c.3735+2T>C	ABCC4	Single nucleotide variant (splice donor variant)	not provided	Gnot provided
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 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 147146	GRCh38/hg38 13q32.1(chr13:95105459-95389895)x1	ABCC4, LOC124909511 +14 more	Copy number loss	See cases	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 2212161	NM_005845.5(ABCC4):c.2363A>G (p.Tyr788Cys)	ABCC4 (Y788C +2 more)	Single nucleotide variant (missense variant)	not specified	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 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 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 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 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 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 3128438	NM_005845.5(ABCC4):c.671C>T (p.Ala224Val)	ABCC4, LOC126861817 (A224V +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 157294	NM_005845.4(ABCC4):c.-29819_74+19835dup	ABCC4, LOC130009962 +2 more	Duplication	Gestational diabetes mellitus uncontrolled	Gnot provided
Select item 157293	NM_005845.4(ABCC4):c.-82315_74+19835dup	ABCC4, LOC130009962 +4 more	Duplication	Large for gestational age	Gnot provided
Select item 762266	NM_005845.5(ABCC4):c.39G>C (p.Leu13=)	ABCC4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3063309	GRCh37/hg19 13q31.1-34(chr13:84669397-115107733)x1	ABCC4, ABHD13 +97 more	Copy number loss	not specified	GPathogenic
Select item 3063294	GRCh37/hg19 13q31.1-34(chr13:82876219-115107733)x3	ABCC4, ABHD13 +98 more	Copy number gain	not specified	GPathogenic
Select item 3063280	GRCh37/hg19 13q21.31-33.1(chr13:64825656-103641349)x1	ABCC4, ACOD1 +81 more	Copy number loss	not specified	GPathogenic
Select item 3063279	GRCh37/hg19 13q14.2-32.2(chr13:49547974-98214905)x1	ABCC4, ACOD1 +102 more	Copy number loss	not specified	GPathogenic
Select item 2685478	GRCh37/hg19 13q31.2-33.2(chr13:89012420-106371634)x1	SLC15A1, SOX21 +50 more	Copy number loss	not provided	GPathogenic
Select item 2685475	GRCh37/hg19 13q31.1-34(chr13:82131211-115107733)x1	ABCC4, ABHD13 +98 more	Copy number loss	not provided	GPathogenic
Select item 2685473	GRCh37/hg19 13q21.33-33.1(chr13:73132193-104595598)x1	ABCC4, ACOD1 +78 more	Copy number loss	not provided	GPathogenic
Select item 2684705	GRCh37/hg19 13q22.1-34(chr13:73488238-115107733)x3	ABCC4, ABHD13 +121 more	Copy number gain	not provided	GPathogenic
Select item 2684703	GRCh37/hg19 13q21.2-34(chr13:61534068-115107733)x3	ABCC4, ABHD13 +129 more	Copy number gain	not provided	GPathogenic
Select item 2446726	GRCh37/hg19 13q32.1-33.2(chr13:95700999-105271065)x3	DZIP1, ERCC5 +35 more	Copy number gain	See cases	GPathogenic

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