ClinVar for MedGen (Select 325268) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3730636	NM_020297.4(ABCC9):c.201G>C (p.Pro67=)	ABCC9	Single nucleotide variant (synonymous variant +1 more)	Dilated cardiomyopathy 1O	GLikely benign
Select item 3728356	NM_020297.4(ABCC9):c.2436G>A (p.Leu812=)	ABCC9	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1O	GLikely benign
Select item 3728072	NM_020297.4(ABCC9):c.3771+10G>A	ABCC9, KCNJ8-AS1	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1O	GLikely benign
Select item 3726976	NM_020297.4(ABCC9):c.3893-17C>T	ABCC9, KCNJ8-AS1	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1O	GLikely benign
Select item 3726161	NM_020297.4(ABCC9):c.1939C>T (p.Pro647Ser)	ABCC9 (P647S +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1O	GUncertain significance
Select item 3725970	NM_020297.4(ABCC9):c.4315+2T>C	ABCC9, KCNJ8-AS1	Single nucleotide variant (splice donor variant)	Dilated cardiomyopathy 1O	GLikely pathogenic
Select item 3725815	NM_020297.4(ABCC9):c.2988G>A (p.Leu996=)	ABCC9	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1O	GLikely benign
Select item 3725647	NM_020297.4(ABCC9):c.3096+6A>T	ABCC9	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1O	GUncertain significance
Select item 3723320	NM_020297.4(ABCC9):c.871A>C (p.Arg291=)	ABCC9	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1O	GLikely benign
Select item 3722765	NM_020297.4(ABCC9):c.2506-5T>C	ABCC9	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1O	GLikely benign
Select item 3722322	NM_020297.4(ABCC9):c.1913del (p.Gln638fs)	ABCC9 (Q350fs +1 more)	Deletion (frameshift variant)	Dilated cardiomyopathy 1O	GPathogenic
Select item 3719978	NM_020297.4(ABCC9):c.198T>C (p.Phe66=)	ABCC9	Single nucleotide variant (synonymous variant +1 more)	Dilated cardiomyopathy 1O	GLikely benign
Select item 3719618	NM_020297.4(ABCC9):c.3772-16del	ABCC9, KCNJ8-AS1	Deletion (intron variant)	Dilated cardiomyopathy 1O	GBenign
Select item 3718633	NM_020297.4(ABCC9):c.696C>G (p.Asn232Lys)	ABCC9 (N232K)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1O	GUncertain significance
Select item 3718627	NM_020297.4(ABCC9):c.1193T>C (p.Leu398Pro)	ABCC9 (L110P +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1O	GUncertain significance
Select item 3718619	NM_020297.4(ABCC9):c.2087C>A (p.Pro696Gln)	ABCC9 (P696Q +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1O	GUncertain significance
Select item 3718617	NM_020297.4(ABCC9):c.2182A>C (p.Lys728Gln)	ABCC9 (K440Q +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1O	GUncertain significance
Select item 3718614	NM_020297.4(ABCC9):c.2243A>G (p.Asn748Ser)	ABCC9 (N459S +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1O	GUncertain significance
Select item 3718605	NM_020297.4(ABCC9):c.2858A>G (p.Glu953Gly)	ABCC9 (E953G +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1O	GUncertain significance
Select item 3718602	NM_020297.4(ABCC9):c.3013C>G (p.His1005Asp)	ABCC9 (H716D +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1O	GUncertain significance
Select item 3718600	NM_020297.4(ABCC9):c.3232C>G (p.Leu1078Val)	ABCC9 (L1078V +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1O	GUncertain significance
Select item 3718598	NM_020297.4(ABCC9):c.3232C>T (p.Leu1078Phe)	ABCC9 (L1078F +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1O	GUncertain significance
Select item 3718596	NM_020297.4(ABCC9):c.3380T>C (p.Met1127Thr)	ABCC9 (M838T +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1O	GUncertain significance
Select item 3718570	NM_020297.4(ABCC9):c.4310G>A (p.Gly1437Asp)	ABCC9, KCNJ8-AS1 (G1437D +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1O	GUncertain significance
Select item 3718567	NM_020297.4(ABCC9):c.4512+700C>G	ABCC9, KCNJ8-AS1 (S1509C)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1O	GUncertain significance
Select item 3718564	NM_020297.4(ABCC9):c.4512+812G>A	ABCC9, KCNJ8-AS1 (M1546I)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1O	GUncertain significance
Select item 3718323	NM_020297.4(ABCC9):c.1414T>C (p.Phe472Leu)	ABCC9 (F184L +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1O	GUncertain significance
Select item 3717503	NM_020297.4(ABCC9):c.2867-19A>G	ABCC9	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1O	GLikely benign
Select item 3717317	NM_020297.4(ABCC9):c.285-20T>C	ABCC9	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1O	GUncertain significance
Select item 3717237	NM_020297.4(ABCC9):c.853A>T (p.Ile285Leu)	ABCC9 (I285L)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1O	GUncertain significance
Select item 3713639	NM_020297.4(ABCC9):c.574-16A>T	ABCC9	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1O	GLikely benign
Select item 3713024	NM_020297.4(ABCC9):c.1618+15C>T	ABCC9	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1O	GLikely benign
Select item 3712745	NM_020297.4(ABCC9):c.2111T>C (p.Val704Ala)	ABCC9 (V416A +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1O	GUncertain significance
Select item 3711570	NM_020297.4(ABCC9):c.3949C>T (p.Leu1317=)	ABCC9, KCNJ8-AS1	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1O	GLikely benign
Select item 3711443	NM_020297.4(ABCC9):c.1619-19A>G	ABCC9	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1O	GLikely benign
Select item 3709529	NM_020297.4(ABCC9):c.3684T>C (p.Ala1228=)	ABCC9, KCNJ8-AS1	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1O	GLikely benign
Select item 3709016	NM_020297.4(ABCC9):c.3330C>T (p.Thr1110=)	ABCC9	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1O	GLikely benign
Select item 3708895	NM_020297.4(ABCC9):c.4512+715G>C	ABCC9, KCNJ8-AS1 (G1514A)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1O	GUncertain significance
Select item 3708231	NM_020297.4(ABCC9):c.3059C>T (p.Ser1020Leu)	ABCC9 (S731L +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1O	GUncertain significance
Select item 3707844	NM_020297.4(ABCC9):c.2594C>T (p.Thr865Ile)	ABCC9 (T865I +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1O	GUncertain significance
Select item 3707702	NM_020297.4(ABCC9):c.380C>T (p.Thr127Ile)	ABCC9 (T127I)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1O	GUncertain significance
Select item 3706819	NM_020297.4(ABCC9):c.959G>A (p.Gly320Glu)	ABCC9 (G320E +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1O	GUncertain significance
Select item 3706008	NM_020297.4(ABCC9):c.987_989del (p.Gln329_Asn330delinsHis)	ABCC9	Deletion (inframe_indel)	Dilated cardiomyopathy 1O	GUncertain significance
Select item 3705658	NM_020297.4(ABCC9):c.3873G>A (p.Glu1291=)	ABCC9, KCNJ8-AS1	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1O	GLikely benign
Select item 3705269	NM_020297.4(ABCC9):c.3716T>C (p.Ile1239Thr)	ABCC9, KCNJ8-AS1 (I950T +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1O	GUncertain significance
Select item 3705164	NM_020297.4(ABCC9):c.1165-19T>C	ABCC9	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1O	GLikely benign
Select item 3705108	NM_020297.4(ABCC9):c.1350T>G (p.Asn450Lys)	ABCC9 (N450K +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1O	GUncertain significance
Select item 3705097	NM_020297.4(ABCC9):c.4255T>C (p.Trp1419Arg)	ABCC9, KCNJ8-AS1 (W1130R +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1O	GUncertain significance
Select item 3705038	NM_020297.4(ABCC9):c.1320+15A>G	ABCC9	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1O	GLikely benign
Select item 3703686	NM_020297.4(ABCC9):c.1994C>T (p.Ala665Val)	ABCC9 (A377V +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1O	GUncertain significance
Select item 3702588	NM_020297.4(ABCC9):c.4450-18_4450-17del	ABCC9, KCNJ8-AS1	Microsatellite (intron variant)	Dilated cardiomyopathy 1O	GLikely benign
Select item 3701672	NM_020297.4(ABCC9):c.3862A>G (p.Met1288Val)	ABCC9, KCNJ8-AS1 (M999V +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1O	GUncertain significance
Select item 3701610	NM_020297.4(ABCC9):c.1671C>G (p.Thr557=)	ABCC9	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1O	GLikely benign
Select item 3701484	NM_020297.4(ABCC9):c.609G>A (p.Lys203=)	ABCC9	Single nucleotide variant (synonymous variant +1 more)	Dilated cardiomyopathy 1O	GLikely benign
Select item 3700295	NM_020297.4(ABCC9):c.1165-13T>A	ABCC9	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1O	GLikely benign
Select item 3699443	NM_020297.4(ABCC9):c.2505+9A>G	ABCC9	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1O	GLikely benign
Select item 3697745	NM_020297.4(ABCC9):c.1051G>A (p.Ala351Thr)	ABCC9 (A351T +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1O	GUncertain significance
Select item 3696579	NM_020297.4(ABCC9):c.2725C>A (p.His909Asn)	ABCC9 (H620N +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1O	GUncertain significance
Select item 3695603	NM_020297.4(ABCC9):c.475G>A (p.Gly159Ser)	ABCC9 (G159S)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1O	GUncertain significance
Select item 3694280	NM_020297.4(ABCC9):c.2736A>G (p.Thr912=)	ABCC9	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1O	GLikely benign
Select item 3693733	NM_020297.4(ABCC9):c.3316-15A>T	ABCC9	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1O	GLikely benign
Select item 3693491	NM_020297.4(ABCC9):c.4103-18T>C	ABCC9, KCNJ8-AS1	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1O	GLikely benign
Select item 3693066	NM_020297.4(ABCC9):c.4467A>T (p.Lys1489Asn)	ABCC9, KCNJ8-AS1 (K1200N +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1O	GUncertain significance
Select item 3691842	NM_020297.4(ABCC9):c.2867-7T>C	ABCC9	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1O	GLikely benign
Select item 3691207	NM_020297.4(ABCC9):c.3948T>A (p.Asp1316Glu)	ABCC9, KCNJ8-AS1 (D1316E +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1O	GUncertain significance
Select item 3689964	NM_020297.4(ABCC9):c.2982C>T (p.Leu994=)	ABCC9	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1O	GLikely benign
Select item 3689837	NM_020297.4(ABCC9):c.3849_3850del (p.Asn1283fs)	ABCC9, KCNJ8-AS1 (N994fs +1 more)	Deletion (frameshift variant)	Dilated cardiomyopathy 1O	GPathogenic
Select item 3688615	NM_020297.4(ABCC9):c.3770C>A (p.Thr1257Lys)	ABCC9, KCNJ8-AS1 (T1257K +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1O	GUncertain significance
Select item 3688029	NM_020297.4(ABCC9):c.3238C>A (p.Pro1080Thr)	ABCC9 (P1080T +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1O	GUncertain significance
Select item 3687918	NM_020297.4(ABCC9):c.4170A>G (p.Ser1390=)	ABCC9, KCNJ8-AS1	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1O	GLikely benign
Select item 3687319	NM_020297.4(ABCC9):c.1552G>A (p.Val518Met)	ABCC9 (V230M +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1O	GUncertain significance
Select item 3686344	NM_020297.4(ABCC9):c.4512+678T>C	ABCC9, KCNJ8-AS1	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1O	GLikely benign
Select item 3685604	NM_020297.4(ABCC9):c.975G>A (p.Val325=)	ABCC9	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1O	GLikely benign
Select item 3685564	NM_020297.4(ABCC9):c.4512+697_4512+698insA	ABCC9, KCNJ8-AS1 (S1509fs)	Insertion (frameshift variant +1 more)	Dilated cardiomyopathy 1O	GUncertain significance
Select item 3685544	NM_020297.4(ABCC9):c.3305del (p.Ile1102fs)	ABCC9 (I1102fs +1 more)	Deletion (frameshift variant)	Dilated cardiomyopathy 1O	GPathogenic
Select item 3685480	NM_020297.4(ABCC9):c.2425-19G>A	ABCC9	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1O	GUncertain significance
Select item 3683566	NM_020297.4(ABCC9):c.2672T>C (p.Leu891Pro)	ABCC9 (L602P +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1O	GUncertain significance
Select item 3683505	NM_020297.4(ABCC9):c.817-11T>C	ABCC9	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1O	GLikely benign
Select item 3682544	NM_020297.4(ABCC9):c.2321G>T (p.Ser774Ile)	ABCC9 (S485I +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1O	GUncertain significance
Select item 3681837	NM_020297.4(ABCC9):c.3097-19dup	ABCC9	Duplication (intron variant)	Dilated cardiomyopathy 1O	GBenign
Select item 3681429	NM_020297.4(ABCC9):c.286C>A (p.Arg96=)	ABCC9	Single nucleotide variant (synonymous variant +1 more)	Dilated cardiomyopathy 1O	GLikely benign
Select item 3681414	NM_020297.4(ABCC9):c.1802+5G>T	ABCC9	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1O	GUncertain significance
Select item 3681219	NM_020297.4(ABCC9):c.1035G>C (p.Lys345Asn)	ABCC9 (K57N +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1O	GUncertain significance
Select item 3679990	NM_020297.4(ABCC9):c.3945T>C (p.His1315=)	ABCC9, KCNJ8-AS1	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1O	GLikely benign
Select item 3679810	NM_020297.4(ABCC9):c.4102+12A>G	ABCC9, KCNJ8-AS1	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1O	GLikely benign
Select item 3678174	NM_020297.4(ABCC9):c.1660-6G>A	ABCC9	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1O	GLikely benign
Select item 3677224	NM_020297.4(ABCC9):c.172A>C (p.Ile58Leu)	ABCC9 (I58L)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1O	GUncertain significance
Select item 3677160	NM_020297.4(ABCC9):c.407-19T>C	ABCC9	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1O	GLikely benign
Select item 3676695	NM_020297.4(ABCC9):c.3474-9C>G	ABCC9	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1O	GLikely benign
Select item 3672073	NM_020297.4(ABCC9):c.1862C>G (p.Thr621Ser)	ABCC9 (T621S +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1O	GUncertain significance
Select item 3671597	NM_020297.4(ABCC9):c.4102+18T>G	ABCC9, KCNJ8-AS1	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1O	GLikely benign
Select item 3671535	NM_020297.4(ABCC9):c.2982del (p.Ile995fs)	ABCC9 (I706fs +1 more)	Deletion (frameshift variant)	Dilated cardiomyopathy 1O	GPathogenic
Select item 3671510	NM_020297.4(ABCC9):c.1645G>T (p.Ala549Ser)	ABCC9 (A261S +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1O	GUncertain significance
Select item 3670187	NM_020297.4(ABCC9):c.1773G>C (p.Val591=)	ABCC9	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1O	GLikely benign
Select item 3669879	NM_020297.4(ABCC9):c.1932G>A (p.Arg644=)	ABCC9	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1O	GLikely benign
Select item 3668502	NM_020297.4(ABCC9):c.1165-11T>G	ABCC9	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1O	GLikely benign
Select item 3668217	NM_020297.4(ABCC9):c.3096+10G>C	ABCC9	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1O	GLikely benign
Select item 3668073	NM_020297.4(ABCC9):c.1321-18A>C	ABCC9	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1O	GLikely benign
Select item 3667688	NM_020297.4(ABCC9):c.4008C>A (p.Ile1336=)	ABCC9, KCNJ8-AS1	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1O	GLikely benign
Select item 3667628	NM_020297.4(ABCC9):c.573+12A>G	ABCC9	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1O	GLikely benign

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