ClinVar for MedGen (Select 325268) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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
Select item 2913212	NM_020297.4(ABCC9):c.3597G>A (p.Leu1199=)	ABCC9	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1O	GLikely benign
Select item 2911458	NM_020297.4(ABCC9):c.2851G>A (p.Glu951Lys)	ABCC9 (E662K +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1O	GUncertain significance
Select item 2907789	NM_020297.4(ABCC9):c.3772-8_3772-5dup	ABCC9	Duplication (intron variant)	Dilated cardiomyopathy 1O	GUncertain significance
Select item 2907264	NM_020297.4(ABCC9):c.3085A>G (p.Lys1029Glu)	ABCC9 (K1029E +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1O	GUncertain significance
Select item 2907118	NM_020297.4(ABCC9):c.4315+7T>A	ABCC9	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1O	GLikely benign
Select item 2903947	NM_020297.4(ABCC9):c.3892+20T>G	ABCC9	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1O	GLikely benign
Select item 2903116	NM_020297.4(ABCC9):c.2775G>C (p.Met925Ile)	ABCC9 (M636I +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1O	GUncertain significance
Select item 2901857	NM_020297.4(ABCC9):c.2005G>C (p.Asp669His)	ABCC9 (D381H +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1O	GUncertain significance
Select item 2899855	NM_020297.4(ABCC9):c.3566G>A (p.Arg1189Lys)	ABCC9 (R1189K +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1O	GUncertain significance
Select item 2897721	NM_020297.4(ABCC9):c.3474-15C>G	ABCC9	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1O	GLikely benign
Select item 2897005	NM_020297.4(ABCC9):c.3670-15C>G	ABCC9	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1O	GLikely benign
Select item 2896185	NM_020297.4(ABCC9):c.1165-20_1165-19del	ABCC9	Microsatellite (intron variant)	Dilated cardiomyopathy 1O	GLikely benign
Select item 2895695	NM_020297.4(ABCC9):c.2757A>C (p.Gln919His)	ABCC9 (Q630H +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1O	GUncertain significance
Select item 2895240	NM_020297.4(ABCC9):c.2770-7A>T	ABCC9	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1O	GLikely benign
Select item 2894423	NM_020297.4(ABCC9):c.2038T>C (p.Ser680Pro)	ABCC9 (S680P +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1O	GUncertain significance
Select item 2892687	NM_020297.4(ABCC9):c.2186T>A (p.Val729Asp)	ABCC9 (V441D +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1O	GUncertain significance
Select item 2892085	NM_020297.4(ABCC9):c.3582T>C (p.Phe1194=)	ABCC9	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1O	GLikely benign
Select item 2891943	NM_020297.4(ABCC9):c.2900T>C (p.Met967Thr)	ABCC9 (M678T +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1O	GUncertain significance
Select item 2891819	NM_020297.4(ABCC9):c.2770G>A (p.Asp924Asn)	ABCC9 (D635N +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1O	GUncertain significance
Select item 2891434	NM_020297.4(ABCC9):c.2092+18T>C	ABCC9	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1O	GLikely benign
Select item 2890507	NM_020297.4(ABCC9):c.495G>A (p.Leu165=)	ABCC9	Single nucleotide variant (synonymous variant +1 more)	Dilated cardiomyopathy 1O	GLikely benign
Select item 2887708	NM_020297.4(ABCC9):c.3246G>T (p.Arg1082Ser)	ABCC9 (R1082S +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 2887475	NM_020297.4(ABCC9):c.1921A>G (p.Thr641Ala)	ABCC9 (T641A +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1O	GUncertain significance
Select item 2885629	NM_020297.4(ABCC9):c.2424+20A>C	ABCC9	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1O	GLikely benign
Select item 2882878	NM_020297.4(ABCC9):c.2709T>C (p.Asp903=)	ABCC9	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1O	GLikely benign
Select item 2882058	NM_020297.4(ABCC9):c.3771G>A (p.Thr1257=)	ABCC9	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1O	GUncertain significance
Select item 2881297	NM_020297.4(ABCC9):c.3762T>C (p.Tyr1254=)	ABCC9	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1O	GLikely benign
Select item 2877703	NM_020297.4(ABCC9):c.3946G>A (p.Asp1316Asn)	ABCC9 (D1316N +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1O	GUncertain significance
Select item 2875807	NM_020297.4(ABCC9):c.3498T>C (p.Ser1166=)	ABCC9	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1O	GLikely benign
Select item 2874529	NM_020297.4(ABCC9):c.2433C>T (p.Asn811=)	ABCC9	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1O	GLikely benign
Select item 2873915	NM_020297.4(ABCC9):c.143-5T>C	ABCC9	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1O	GLikely benign
Select item 2873206	NM_020297.4(ABCC9):c.2130G>A (p.Gly710=)	ABCC9	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1O	GLikely benign
Select item 2868501	NM_020297.4(ABCC9):c.684C>T (p.Tyr228=)	ABCC9	Single nucleotide variant (synonymous variant +1 more)	Dilated cardiomyopathy 1O	GLikely benign
Select item 2867925	NM_020297.4(ABCC9):c.883C>A (p.Arg295=)	ABCC9	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1O	GLikely benign
Select item 2867859	NM_020297.4(ABCC9):c.2191T>G (p.Trp731Gly)	ABCC9 (W443G +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1O	GUncertain significance
Select item 2866879	NM_020297.4(ABCC9):c.594T>A (p.Asn198Lys)	ABCC9 (N198K)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1O	GUncertain significance
Select item 2866649	NM_020297.4(ABCC9):c.2216C>T (p.Pro739Leu)	ABCC9 (P451L +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1O	GUncertain significance
Select item 2865172	NM_020297.4(ABCC9):c.419A>T (p.Tyr140Phe)	ABCC9 (Y140F)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1O	GUncertain significance
Select item 2864638	NM_020297.4(ABCC9):c.3036C>T (p.Asp1012=)	ABCC9	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1O	GLikely benign
Select item 2864477	NM_020297.4(ABCC9):c.2811C>G (p.Leu937=)	ABCC9	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1O	GLikely benign
Select item 2864182	NM_020297.4(ABCC9):c.284+9T>C	ABCC9	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1O	GLikely benign
Select item 2863021	NM_020297.4(ABCC9):c.1164+2dup	ABCC9	Duplication (splice donor variant)	Dilated cardiomyopathy 1O	GUncertain significance
Select item 2861982	NM_020297.4(ABCC9):c.1266T>G (p.Asn422Lys)	ABCC9 (N134K +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1O	GPathogenic
Select item 2861927	NM_020297.4(ABCC9):c.1660-11T>A	ABCC9	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1O	GLikely benign
Select item 2861093	NM_020297.4(ABCC9):c.422G>C (p.Trp141Ser)	ABCC9 (W141S)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1O	GUncertain significance
Select item 2853225	NM_020297.4(ABCC9):c.4512+713del	ABCC9 (G1514fs)	Deletion (frameshift variant +1 more)	Dilated cardiomyopathy 1O	GUncertain significance
Select item 2853089	NM_020297.4(ABCC9):c.2331C>G (p.Asn777Lys)	ABCC9 (N488K +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1O	GUncertain significance
Select item 2851164	NM_020297.4(ABCC9):c.3705dup (p.Ile1236fs)	ABCC9 (I1236fs +1 more)	Duplication (frameshift variant)	Dilated cardiomyopathy 1O	GUncertain significance
Select item 2851147	NM_020297.4(ABCC9):c.1199C>A (p.Thr400Lys)	ABCC9 (T400K +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1O	GUncertain significance
Select item 2850646	NM_020297.4(ABCC9):c.2769+4A>G	ABCC9	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1O	GUncertain significance
Select item 2849082	NM_020297.4(ABCC9):c.284+5G>A	ABCC9	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1O	GUncertain significance
Select item 2848212	NM_020297.4(ABCC9):c.353C>T (p.Ser118Leu)	ABCC9 (S118L)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1O	GUncertain significance
Select item 2847014	NM_020297.4(ABCC9):c.641G>A (p.Arg214Lys)	ABCC9 (R214K)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1O	GUncertain significance
Select item 2845483	NM_020297.4(ABCC9):c.2891A>T (p.Asp964Val)	ABCC9 (D964V +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1O	GUncertain significance

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