ClinVar for Gene (Select 10060) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3367924	NM_020297.4(ABCC9):c.1823T>C (p.Phe608Ser)	ABCC9 (F320S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3363124	NM_020297.4(ABCC9):c.3308T>C (p.Ile1103Thr)	ABCC9 (I1103T +1 more)	Single nucleotide variant (missense variant)	Hypertrichotic osteochondrodysplasia Cantu type	GUncertain significance
Select item 3361358	NM_020297.4(ABCC9):c.2038T>A (p.Ser680Thr)	ABCC9 (S392T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360534	NM_020297.4(ABCC9):c.3817G>A (p.Glu1273Lys)	ABCC9 (E1273K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359638	NM_020297.4(ABCC9):c.880G>A (p.Gly294Arg)	ABCC9 (G294R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3348056	NM_020297.4(ABCC9):c.4512+689C>T	ABCC9	Single nucleotide variant (synonymous variant +1 more)	ABCC9-related disorder	GLikely benign
Select item 3346041	NM_020297.4(ABCC9):c.1004C>G (p.Thr335Arg)	ABCC9 (T335R +1 more)	Single nucleotide variant (missense variant)	ABCC9-related disorder	GUncertain significance
Select item 3345661	NM_020297.4(ABCC9):c.17G>C (p.Cys6Ser)	ABCC9 (C6S)	Single nucleotide variant (missense variant +1 more)	ABCC9-related disorder	GUncertain significance
Select item 3343173	NM_020297.4(ABCC9):c.4109T>A (p.Ile1370Asn)	ABCC9 (I1081N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3343028	NM_020297.4(ABCC9):c.845C>T (p.Thr282Ile)	ABCC9 (T282I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3340617	NM_020297.4(ABCC9):c.3940A>G (p.Ile1314Val)	ABCC9 (I1025V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3306464	NM_020297.4(ABCC9):c.54T>G (p.Gly18=)	ABCC9	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 3306281	NM_020297.4(ABCC9):c.2892T>C (p.Asp964=)	ABCC9	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3306209	NM_020297.4(ABCC9):c.735G>A (p.Leu245=)	ABCC9	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 3306127	NM_020297.4(ABCC9):c.735G>T (p.Leu245=)	ABCC9	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 3306028	NM_020297.4(ABCC9):c.4185T>C (p.Asp1395=)	ABCC9	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3305768	NM_020297.4(ABCC9):c.4512+701T>C	ABCC9	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 3305572	NM_020297.4(ABCC9):c.1096_1111del (p.Arg366fs)	ABCC9 (R366fs +1 more)	Deletion (frameshift variant)	Cardiovascular phenotype	GUncertain significance
Select item 3305489	NM_020297.4(ABCC9):c.2849T>C (p.Met950Thr)	ABCC9 (M950T +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3305456	NM_020297.4(ABCC9):c.1770G>T (p.Thr590=)	ABCC9	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3305382	NM_020297.4(ABCC9):c.852T>C (p.Ser284=)	ABCC9	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 3305287	NM_020297.4(ABCC9):c.3651A>G (p.Arg1217=)	ABCC9	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3305216	NM_020297.4(ABCC9):c.4211+5G>C	ABCC9	Single nucleotide variant (intron variant)	Cardiovascular phenotype	GUncertain significance
Select item 3304752	NM_020297.4(ABCC9):c.3281A>G (p.Asn1094Ser)	ABCC9 (N805S +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3257477	NM_020297.4(ABCC9):c.1333G>A (p.Val445Met)	ABCC9 (V157M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3255534	NM_020297.4(ABCC9):c.4512+689C>G	ABCC9 (H1505Q)	Single nucleotide variant (missense variant +1 more)	Hypertrophic cardiomyopathy 2	Gnot provided
Select item 3255533	NM_020297.4(ABCC9):c.4512+695C>G	ABCC9	Single nucleotide variant (synonymous variant +1 more)	Hypertrophic cardiomyopathy 2	Gnot provided
Select item 3252946	NM_020297.4(ABCC9):c.2582A>G (p.Asp861Gly)	ABCC9 (D572G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3244306	NC_000012.11:g.(?_22086696)_(22089608_?)dup	ABCC9	Duplication	Dilated cardiomyopathy 1O	GUncertain significance
Select item 3244305	NC_000012.11:g.(?_21997397)_(21998786_?)del	ABCC9	Deletion	Dilated cardiomyopathy 1O	GUncertain significance
Select item 3244303	NC_000012.11:g.(?_21967558)_(22040888_?)del	ABCC9	Deletion	Dilated cardiomyopathy 1O	GUncertain significance
Select item 3244302	NC_000012.11:g.(?_22059040)_(22059242_?)del	ABCC9	Deletion	Dilated cardiomyopathy 1O	GUncertain significance
Select item 3244285	NC_000012.11:g.(?_21918657)_(22089608_?)del	ABCC9, KCNJ8	Deletion	Brugada syndrome	GUncertain significance
Select item 3224926	NM_020297.4(ABCC9):c.930G>A (p.Leu310=)	ABCC9	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3224925	NM_020297.4(ABCC9):c.828A>C (p.Ala276=)	ABCC9	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 3224924	NM_020297.4(ABCC9):c.664T>C (p.Leu222=)	ABCC9	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 3224922	NM_020297.4(ABCC9):c.389_406+6del	ABCC9	Deletion (splice donor variant)	Cardiovascular phenotype	GUncertain significance
Select item 3224920	NM_020297.4(ABCC9):c.2701A>G (p.Thr901Ala)	ABCC9 (T612A +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3224918	NM_020297.4(ABCC9):c.2360C>A (p.Ala787Asp)	ABCC9 (A498D +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3224917	NM_020297.4(ABCC9):c.2337G>C (p.Gln779His)	ABCC9 (Q490H +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3224916	NM_020297.4(ABCC9):c.2333_2336del (p.Lys778fs)	ABCC9 (K489fs +1 more)	Microsatellite (frameshift variant)	Cardiovascular phenotype	GUncertain significance
Select item 3224915	NM_020297.4(ABCC9):c.2198+4T>C	ABCC9	Single nucleotide variant (intron variant)	Cardiovascular phenotype	GUncertain significance
Select item 3224914	NM_020297.4(ABCC9):c.2172A>G (p.Thr724=)	ABCC9	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3224913	NM_020297.4(ABCC9):c.2020-2A>T	ABCC9	Single nucleotide variant (splice acceptor variant)	Cardiovascular phenotype	GUncertain significance
Select item 3224912	NM_020297.4(ABCC9):c.2019+1G>A	ABCC9	Single nucleotide variant (splice donor variant)	Cardiovascular phenotype	GUncertain significance
Select item 3224911	NM_020297.4(ABCC9):c.1911T>G (p.Val637=)	ABCC9	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3224910	NM_020297.4(ABCC9):c.1800A>T (p.Ile600=)	ABCC9	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3224909	NM_020297.4(ABCC9):c.1734C>T (p.Phe578=)	ABCC9	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3224907	NM_020297.4(ABCC9):c.1176T>C (p.Tyr392=)	ABCC9	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3224905	NM_020297.4(ABCC9):c.1122T>C (p.Tyr374=)	ABCC9	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3067693	NM_020297.4(ABCC9):c.3423C>T (p.Pro1141=)	ABCC9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3066272	NM_020297.4(ABCC9):c.4512+687C>A	ABCC9 (H1505N)	Single nucleotide variant (missense variant +1 more)	Hypertrichotic osteochondrodysplasia Cantu type	GUncertain significance
Select item 3063250	GRCh37/hg19 12p13.33-11.1(chr12:173786-34835641)x3	A2M, A2ML1 +278 more	Copy number gain	not specified	GPathogenic
Select item 3063228	GRCh37/hg19 12p12.1(chr12:22059874-22080237)x1	ABCC9	Copy number loss	not specified	GUncertain significance
Select item 3061859	NM_020297.4(ABCC9):c.3492_3493del (p.Asp1164fs)	ABCC9 (D1164fs +1 more)	Deletion (frameshift variant)	Dilated cardiomyopathy 1O +1 more	GUncertain significance
Select item 3050681	NM_020297.4(ABCC9):c.480G>A (p.Leu160=)	ABCC9	Single nucleotide variant (synonymous variant +1 more)	ABCC9-related disorder	GLikely benign
Select item 3045945	NM_020297.4(ABCC9):c.4450-6_4450-5dup	ABCC9	Duplication (intron variant)	ABCC9-related disorder	GLikely benign
Select item 3040132	NM_020297.4(ABCC9):c.1165-7_1165-6dup	ABCC9	Duplication (intron variant)	ABCC9-related disorder	GLikely benign
Select item 3036905	NM_020297.4(ABCC9):c.2867-9dup	ABCC9	Duplication (intron variant)	ABCC9-related disorder	GLikely benign
Select item 3023853	NM_020297.4(ABCC9):c.2019+8T>C	ABCC9	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1O	GLikely benign
Select item 3021083	NM_020297.4(ABCC9):c.2769+10C>T	ABCC9	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1O	GLikely benign
Select item 3019636	NM_020297.4(ABCC9):c.1659+19C>A	ABCC9	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1O	GLikely benign
Select item 3017597	NM_020297.4(ABCC9):c.1141A>G (p.Ile381Val)	ABCC9 (I381V +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1O	GUncertain significance
Select item 3016504	NM_020297.4(ABCC9):c.142+13G>C	ABCC9	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1O	GLikely benign
Select item 3015893	NM_020297.4(ABCC9):c.411G>C (p.Leu137=)	ABCC9	Single nucleotide variant (synonymous variant +1 more)	Dilated cardiomyopathy 1O	GLikely benign
Select item 3014472	NM_020297.4(ABCC9):c.573G>A (p.Arg191=)	ABCC9	Single nucleotide variant (synonymous variant +1 more)	Dilated cardiomyopathy 1O	GUncertain significance
Select item 3014334	NM_020297.4(ABCC9):c.2769+19G>A	ABCC9	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1O	GLikely benign
Select item 3014291	NM_020297.4(ABCC9):c.3415C>G (p.Leu1139Val)	ABCC9 (L850V +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1O	GUncertain significance
Select item 3013317	NM_020297.4(ABCC9):c.1660A>C (p.Thr554Pro)	ABCC9 (T266P +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1O	GUncertain significance
Select item 3012345	NM_020297.4(ABCC9):c.3892+7C>T	ABCC9	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1O	GLikely benign
Select item 3010942	NM_020297.4(ABCC9):c.3771+4G>A	ABCC9	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1O	GUncertain significance
Select item 3010165	NM_020297.4(ABCC9):c.2866+20T>A	ABCC9	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1O	GLikely benign
Select item 3007774	NM_020297.4(ABCC9):c.2508T>C (p.Asp836=)	ABCC9	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1O	GLikely benign
Select item 3006693	NM_020297.4(ABCC9):c.1817A>G (p.Asn606Ser)	ABCC9 (N606S +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1O	GUncertain significance
Select item 3006268	NM_020297.4(ABCC9):c.1580C>A (p.Ser527Tyr)	ABCC9 (S239Y +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1O	GUncertain significance
Select item 3003199	NM_020297.4(ABCC9):c.1645G>A (p.Ala549Thr)	ABCC9 (A261T +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1O	GUncertain significance
Select item 3001923	NM_020297.4(ABCC9):c.1659+13_1659+14del	ABCC9	Deletion (intron variant)	Dilated cardiomyopathy 1O	GLikely benign
Select item 3001080	NM_020297.4(ABCC9):c.4101T>A (p.Asp1367Glu)	ABCC9 (D1078E +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GConflicting classifications of pathogenicity
Select item 2998929	NM_020297.4(ABCC9):c.1158T>A (p.Ala386=)	ABCC9	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1O	GLikely benign
Select item 2997521	NM_020297.4(ABCC9):c.4023+15C>T	ABCC9	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1O	GLikely benign
Select item 2996318	NM_020297.4(ABCC9):c.3344C>G (p.Thr1115Ser)	ABCC9 (T826S +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1O	GUncertain significance
Select item 2992819	NM_020297.4(ABCC9):c.4512+718T>C	ABCC9 (L1515P)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1O	GUncertain significance
Select item 2992427	NM_020297.4(ABCC9):c.3773T>A (p.Ile1258Lys)	ABCC9 (I1258K +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1O	GUncertain significance
Select item 2987978	NM_020297.4(ABCC9):c.653C>A (p.Pro218Gln)	ABCC9 (P218Q)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1O	GUncertain significance
Select item 2987266	NM_020297.4(ABCC9):c.1164+20A>G	ABCC9	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1O	GLikely benign
Select item 2986870	NM_020297.4(ABCC9):c.3772-16dup	ABCC9	Duplication (intron variant)	Dilated cardiomyopathy 1O	GBenign
Select item 2981462	NM_020297.4(ABCC9):c.2866+7C>A	ABCC9	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1O	GLikely benign
Select item 2966195	NM_020297.4(ABCC9):c.1912-20C>G	ABCC9	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1O	GLikely benign
Select item 2965095	NM_020297.4(ABCC9):c.2568G>A (p.Leu856=)	ABCC9	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1O	GLikely benign
Select item 2962010	NM_020297.4(ABCC9):c.3473+13G>C	ABCC9	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1O	GLikely benign
Select item 2961214	NM_020297.4(ABCC9):c.4391T>G (p.Val1464Gly)	ABCC9 (V1464G +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1O	GUncertain significance
Select item 2958919	NM_020297.4(ABCC9):c.2020-15A>G	ABCC9	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1O	GLikely benign
Select item 2956301	NM_020297.4(ABCC9):c.2399G>C (p.Gly800Ala)	ABCC9 (G511A +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1O	GUncertain significance
Select item 2919163	NM_020297.4(ABCC9):c.17del (p.Cys6fs)	ABCC9 (C6fs)	Deletion (frameshift variant +1 more)	Dilated cardiomyopathy 1O	GUncertain significance
Select item 2917912	NM_020297.4(ABCC9):c.1913A>T (p.Gln638Leu)	ABCC9 (Q350L +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1O	GUncertain significance
Select item 2917815	NM_020297.4(ABCC9):c.2711T>C (p.Val904Ala)	ABCC9 (V615A +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1O	GUncertain significance
Select item 2917205	NM_020297.4(ABCC9):c.2644-11G>T	ABCC9	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1O	GLikely benign
Select item 2915787	NM_020297.4(ABCC9):c.3210C>T (p.His1070=)	ABCC9	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1O	GLikely benign
Select item 2913684	NM_020297.4(ABCC9):c.3561C>A (p.Ala1187=)	ABCC9	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1O	GLikely benign
Select item 2913317	NM_020297.4(ABCC9):c.4211+4G>A	ABCC9	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1O	GUncertain significance

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