ClinVar for Gene (Select 4363) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3127199	NM_004996.4(ABCC1):c.92A>T (p.Lys31Met)	ABCC1 (K31M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127181	NM_004996.4(ABCC1):c.709G>A (p.Glu237Lys)	ABCC1 (E237K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127178	NM_004996.4(ABCC1):c.683T>C (p.Ile228Thr)	ABCC1 (I228T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127164	NM_004996.4(ABCC1):c.637G>T (p.Ala213Ser)	ABCC1 (A213S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127158	NM_004996.4(ABCC1):c.550A>G (p.Ile184Val)	ABCC1 (I184V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3127152	NM_004996.4(ABCC1):c.536T>C (p.Phe179Ser)	ABCC1 (F179S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127139	NM_004996.4(ABCC1):c.4370C>T (p.Thr1457Met)	ABCC1 (T1457M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127135	NM_004996.4(ABCC1):c.4260C>A (p.Asp1420Glu)	ABCC1 (D1361E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127119	NM_004996.4(ABCC1):c.3823C>T (p.Pro1275Ser)	ABCC1 (P1216S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127112	NM_004996.4(ABCC1):c.3439A>G (p.Ser1147Gly)	ABCC1 (S1147G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127104	NM_004996.4(ABCC1):c.3100T>A (p.Ser1034Thr)	ABCC1 (S975T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127101	NM_004996.4(ABCC1):c.3085G>A (p.Ala1029Thr)	ABCC1 (A1029T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127093	NM_004996.4(ABCC1):c.295G>A (p.Gly99Ser)	ABCC1 (G99S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127089	NM_004996.4(ABCC1):c.2821A>G (p.Lys941Glu)	ABCC1 (K882E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127082	NM_004996.4(ABCC1):c.278T>A (p.Phe93Tyr)	ABCC1 (F93Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127054	NM_004996.4(ABCC1):c.2344G>A (p.Val782Met)	ABCC1 (V782M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127051	NM_004996.4(ABCC1):c.2272C>G (p.Arg758Gly)	ABCC1 (R758G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3127049	NM_004996.4(ABCC1):c.1838T>C (p.Leu613Pro)	ABCC1 (L613P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127044	NM_004996.4(ABCC1):c.170T>C (p.Leu57Pro)	ABCC1 (L57P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127037	NM_004996.4(ABCC1):c.1529A>G (p.Asn510Ser)	ABCC1 (N510S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127034	NM_004996.4(ABCC1):c.1426A>G (p.Met476Val)	ABCC1 (M476V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063457	GRCh37/hg19 16p13.11(chr16:16222353-16239174)x1	ABCC1	Copy number loss	not specified	GUncertain significance
Select item 3063442	GRCh37/hg19 16p13.11(chr16:14892713-16544419)x3	ABCC1, ABCC6 +13 more	Copy number gain	not specified	GPathogenic
Select item 3063441	GRCh37/hg19 16p13.11(chr16:14866283-16544419)x3	ABCC1, ABCC6 +13 more	Copy number gain	not specified	GPathogenic
Select item 3063418	GRCh37/hg19 16p13.11(chr16:14892880-16494783)x3	ABCC1, ABCC6 +13 more	Copy number gain	not specified	GPathogenic
Select item 3063408	GRCh37/hg19 16p13.11(chr16:14906734-16516109)x3	ABCC1, ABCC6 +13 more	Copy number gain	not specified	GPathogenic
Select item 3062590	GRCh37/hg19 16p13.11(chr16:15126890-16289059)x3	ABCC1, ABCC6 +10 more	Copy number gain	not specified	GLikely pathogenic, low penetrance
Select item 3062589	GRCh37/hg19 16p13.11(chr16:15516148-16289059)x3	ABCC1, ABCC6 +5 more	Copy number gain	not specified	GLikely pathogenic, low penetrance
Select item 3054117	NM_004996.4(ABCC1):c.3019G>A (p.Gly1007Arg)	ABCC1 (G1007R +1 more)	Single nucleotide variant (missense variant)	ABCC1-related condition	GBenign
Select item 3053129	NM_004996.4(ABCC1):c.275C>T (p.Ser92Phe)	ABCC1 (S92F)	Single nucleotide variant (missense variant)	ABCC1-related condition	GBenign
Select item 3049946	NM_004996.4(ABCC1):c.185G>A (p.Arg62Gln)	ABCC1 (R62Q)	Single nucleotide variant (missense variant)	ABCC1-related condition	GBenign
Select item 3046554	NM_004996.4(ABCC1):c.1235A>G (p.Asn412Ser)	ABCC1 (N412S)	Single nucleotide variant (missense variant)	ABCC1-related condition	GLikely benign
Select item 3046258	NM_004996.4(ABCC1):c.4441G>A (p.Val1481Ile)	ABCC1 (V1422I +1 more)	Single nucleotide variant (missense variant)	ABCC1-related condition	GBenign
Select item 3041981	NM_004996.4(ABCC1):c.1898G>A (p.Arg633Gln)	ABCC1 (R633Q)	Single nucleotide variant (missense variant)	ABCC1-related condition	GLikely benign
Select item 3041865	NM_004996.4(ABCC1):c.4202C>T (p.Thr1401Met)	ABCC1 (T1342M +1 more)	Single nucleotide variant (missense variant)	ABCC1-related condition	GLikely benign
Select item 3036882	NM_004996.4(ABCC1):c.1915G>T (p.Gly639Trp)	ABCC1 (G639W)	Single nucleotide variant (missense variant)	ABCC1-related condition	GLikely benign
Select item 3035903	NM_004996.4(ABCC1):c.3346G>A (p.Ala1116Thr)	ABCC1 (A1057T +1 more)	Single nucleotide variant (missense variant)	ABCC1-related condition	GLikely benign
Select item 3034993	NM_004996.4(ABCC1):c.854C>T (p.Pro285Leu)	ABCC1 (P285L)	Single nucleotide variant (missense variant)	ABCC1-related condition	GLikely benign
Select item 3033652	NM_004996.4(ABCC1):c.3308G>A (p.Gly1103Asp)	ABCC1 (G1044D +1 more)	Single nucleotide variant (missense variant)	ABCC1-related condition	GLikely benign
Select item 3025991	NM_004996.4(ABCC1):c.4391C>T (p.Thr1464Met)	ABCC1 (T1405M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3024796	NM_004996.4(ABCC1):c.3887G>A (p.Arg1296Gln)	ABCC1 (R1237Q +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3024599	GRCh37/hg19 16p13.11-12.3(chr16:15458733-18188719)x1	ABCC1, ABCC6 +9 more	Copy number loss	not provided	GPathogenic
Select item 3024597	GRCh37/hg19 16p13.11(chr16:14927578-16481355)x1	NPIPA5, ABCC1 +13 more	Copy number loss	not provided	GPathogenic
Select item 3024596	GRCh37/hg19 16p13.11(chr16:14858860-16367932)x3	PDXDC1, RRN3 +14 more	Copy number gain	not provided	GLikely pathogenic
Select item 3024387	GRCh38/hg38 16p13.11-12.3(chr16:15184811-18708191)	LOC102723692, LOC111365165 +77 more	Copy number loss	Autism spectrum disorder	GPathogenic
Select item 3024381	GRCh38/hg38 16p13.11(chr16:15399656-16194269)	ABCC1, ABCC6 +23 more	Copy number loss	Autism spectrum disorder	GPathogenic
Select item 2685562	GRCh37/hg19 16p13.11(chr16:15481748-16391045)x1	ABCC1, ABCC6 +7 more	Copy number loss	not provided	GPathogenic
Select item 2685561	GRCh37/hg19 16p13.11(chr16:15450290-16458408)x1	ABCC1, ABCC6 +8 more	Copy number loss	not provided	GPathogenic
Select item 2685560	GRCh37/hg19 16p13.11(chr16:15358446-16494783)x1	ABCC1, ABCC6 +8 more	Copy number loss	not provided	GPathogenic
Select item 2685559	GRCh37/hg19 16p13.11(chr16:15324776-16294705)x1	ABCC1, ABCC6 +7 more	Copy number loss	not provided	GPathogenic
Select item 2684796	GRCh37/hg19 16p13.11(chr16:16059881-16309165)x3	ABCC1, ABCC6	Copy number gain	not provided	GUncertain significance
Select item 2684795	GRCh37/hg19 16p13.11-12.3(chr16:15509592-16873547)x3	ABCC1, ABCC6 +6 more	Copy number gain	not provided	GLikely pathogenic
Select item 2684794	GRCh37/hg19 16p13.11-12.3(chr16:15509407-18779589)x3	ABCC1, ABCC6 +8 more	Copy number gain	not provided	GLikely pathogenic
Select item 2684793	GRCh37/hg19 16p13.11(chr16:15507899-16388359)x3	ABCC1, ABCC6 +6 more	Copy number gain	not provided	GLikely pathogenic
Select item 2684791	GRCh37/hg19 16p13.11-12.3(chr16:15058821-16837613)x3	ABCC1, ABCC6 +11 more	Copy number gain	not provided	GLikely pathogenic
Select item 2684790	GRCh37/hg19 16p13.11(chr16:15054346-16309165)x3	ABCC1, ABCC6 +10 more	Copy number gain	not provided	GLikely pathogenic
Select item 2672673	GRCh37/hg19 16p13.11(chr16:15460510-16443142)x3	ABCC1, ABCC6 +8 more	Copy number gain	not provided	GLikely pathogenic
Select item 2647150	GRCh37/hg19 16p13.11(chr16:14927709-16364041)x1	ABCC1, ABCC6 +13 more	Copy number loss	not provided	GPathogenic
Select item 2646261	NM_004996.4(ABCC1):c.4377C>T (p.Ala1459=)	ABCC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2646260	NM_004996.4(ABCC1):c.4296C>T (p.Val1432=)	ABCC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2646259	NM_004996.4(ABCC1):c.3336G>A (p.Thr1112=)	ABCC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2646258	NM_004996.4(ABCC1):c.3117C>T (p.Ile1039=)	ABCC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2646257	NM_004996.4(ABCC1):c.2750CCT[2] (p.Ser919del)	ABCC1 (S860del +1 more)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 2646256	NM_004996.4(ABCC1):c.2598G>C (p.Leu866=)	ABCC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2621962	NM_004996.4(ABCC1):c.853C>A (p.Pro285Thr)	ABCC1 (P285T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616975	NM_004996.4(ABCC1):c.3644C>T (p.Ala1215Val)	ABCC1 (A1215V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615009	NM_004996.4(ABCC1):c.557T>G (p.Leu186Arg)	ABCC1 (L186R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610804	NM_004996.4(ABCC1):c.3032A>G (p.His1011Arg)	ABCC1 (H1011R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609238	NM_004996.4(ABCC1):c.3237G>T (p.Glu1079Asp)	ABCC1 (E1020D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602676	NM_004996.4(ABCC1):c.3557A>G (p.Gln1186Arg)	ABCC1 (Q1186R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592245	NM_004996.4(ABCC1):c.1356C>G (p.Ile452Met)	ABCC1 (I452M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2580346	GRCh37/hg19 16p13.11-12.3(chr16:15489453-18321582)x1	ABCC1, ABCC6 +8 more	Copy number loss	16p13.11 microdeletion syndrome	GPathogenic
Select item 2580341	GRCh37/hg19 16p13.11(chr16:14853752-16666672)x1	ABCC1, ABCC6 +14 more	Copy number loss	16p13.11 microdeletion syndrome	GPathogenic
Select item 2580319	GRCh37/hg19 16p13.11(chr16:15125542-16388672)x3	ABCC1, ABCC6 +11 more	Copy number gain	16p13.11 microduplication syndrome	GPathogenic
Select item 2580302	GRCh37/hg19 16p13.11(chr16:15475455-16308356)x1	ABCC1, ABCC6 +6 more	Copy number loss	Autosomal recessive inherited pseudoxanthoma elasticum	GPathogenic
Select item 2570961	GRCh37/hg19 16p13.11(chr16:14819740-16364041)x3	ABCC1, ABCC6 +15 more	Copy number gain	not provided	GLikely pathogenic
Select item 2556773	NM_004996.4(ABCC1):c.659C>G (p.Thr220Ser)	ABCC1 (T220S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551114	NM_004996.4(ABCC1):c.760G>A (p.Val254Met)	ABCC1 (V254M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526642	NM_004996.4(ABCC1):c.2606A>G (p.Tyr869Cys)	ABCC1 (Y810C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525724	NM_004996.4(ABCC1):c.3056A>G (p.Tyr1019Cys)	ABCC1 (Y960C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523599	NM_004996.4(ABCC1):c.2492A>G (p.Tyr831Cys)	ABCC1 (Y772C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523370	NM_004996.4(ABCC1):c.2935A>G (p.Ile979Val)	ABCC1 (I979V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515650	NM_004996.4(ABCC1):c.2662G>A (p.Gly888Ser)	ABCC1 (G829S +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2514295	NM_004996.4(ABCC1):c.665G>C (p.Trp222Ser)	ABCC1 (W222S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2500752	NC_000016.10:g.14683149_16205174dup	ABCC1, ABCC6 +46 more	Duplication	not specified	GUncertain significance
Select item 2499651	GRCh38/hg38 16p13.11(chr16:14816348-16678513)	MIR3180-4, MIR6770-2 +54 more	Copy number gain	Anomalous pulmonary venous return	GUncertain significance
Select item 2498653	NM_004996.4(ABCC1):c.1005C>T (p.His335=)	ABCC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2498201	Single allele	ABCC1, ABCC6 +57 more	Deletion	16p13.11 recurrent microdeletion syndrome	GLikely pathogenic
Select item 2484516	NM_004996.4(ABCC1):c.2600G>A (p.Arg867His)	ABCC1 (R867H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483741	NM_004996.4(ABCC1):c.2756C>G (p.Ser919Cys)	ABCC1 (S860C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483410	NM_004996.4(ABCC1):c.1879C>G (p.Pro627Ala)	ABCC1 (P627A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457769	NM_004996.4(ABCC1):c.577G>C (p.Asp193His)	ABCC1 (D193H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2426738	NC_000016.9:g.(?_15758636)_(17564653_?)del	ABCC1, ABCC6 +5 more	Deletion	Desbuquois dysplasia 1	GPathogenic
Select item 2401457	NM_004996.4(ABCC1):c.2693A>G (p.Asn898Ser)	ABCC1 (N839S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384792	NM_004996.4(ABCC1):c.3970G>A (p.Gly1324Ser)	ABCC1 (G1265S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378461	NM_004996.4(ABCC1):c.1726A>T (p.Ile576Phe)	ABCC1 (I576F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377330	NM_004996.4(ABCC1):c.50A>T (p.Asp17Val)	ABCC1 (D17V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377329	NM_004996.4(ABCC1):c.49G>T (p.Asp17Tyr)	ABCC1 (D17Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361283	NM_004996.4(ABCC1):c.4537G>A (p.Asp1513Asn)	ABCC1 (D1454N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358820	NM_004996.4(ABCC1):c.250G>T (p.Val84Phe)	ABCC1 (V84F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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