ClinVar for MedGen (Select 258500) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2573193	NM_001267550.2(TTN):c.78089_78090insC (p.Lys26030fs)	TTN, TTN-AS1 (K16965fs +5 more)	Insertion (frameshift variant)	Dilated cardiomyopathy 1A	GLikely pathogenic
Select item 2573192	NM_001267550.2(TTN):c.61448G>A (p.Arg20483His)	TTN, TTN-AS1 (R11418H +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1A	GLikely pathogenic
Select item 2573012	NM_170707.4(LMNA):c.1641del (p.Thr548fs)	LMNA (T340fs +5 more)	Deletion (frameshift variant +1 more)	Dilated cardiomyopathy 1A	GPathogenic
Select item 2505337	NM_170707.4(LMNA):c.401T>C (p.Leu134Pro)	LMNA, LOC126805877 (L134P +3 more)	Single nucleotide variant (missense variant +2 more)	Dilated cardiomyopathy 1A	GLikely pathogenic
Select item 2505317	NM_170707.4(LMNA):c.969GGA[1] (p.Glu324del)	LMNA (E116del +5 more)	Microsatellite (inframe_deletion)	Dilated cardiomyopathy 1A	GUncertain significance
Select item 2505314	NM_170707.4(LMNA):c.673del (p.Arg225fs)	LMNA (D4fs +5 more)	Deletion (frameshift variant)	Dilated cardiomyopathy 1A	GLikely pathogenic
Select item 2502156	NM_170707.4(LMNA):c.872A>T (p.Glu291Val)	LMNA (E105V +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1A	GLikely pathogenic
Select item 2442392	NM_001267550.2(TTN):c.49891_49892insA (p.Ala16631fs)	TTN-AS1, TTN (A14063fs +5 more)	Insertion (frameshift variant)	Dilated cardiomyopathy 1A	GLikely pathogenic
Select item 1746556	NM_170707.4(LMNA):c.1198G>A (p.Gly400Ser)	LMNA (G301S +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1A +12 more	GUncertain significance
Select item 1708999	NM_170707.4(LMNA):c.662_663insAGCTGCGTGAGACCAAGCG (p.Arg221_His222insAlaAlaTer)	LMNA	Insertion (nonsense +2 more)	Dilated cardiomyopathy 1A	GLikely pathogenic
Select item 1703037	NM_001267550.2(TTN):c.106552C>T (p.Gln35518Ter)	TTN, TTN-AS1 (Q26453* +5 more)	Single nucleotide variant (nonsense)	Dilated cardiomyopathy 1A	GLikely pathogenic
Select item 1701915	NM_001267052.2(UNC45B):c.1456C>T (p.Leu486Phe)	UNC45B (L486F)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1A	GLikely pathogenic
Select item 1693113	NM_012294.5(RAPGEF5):c.2431C>T (p.His811Tyr)	RAPGEF5 (H396Y +2 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1A	GLikely pathogenic
Select item 1693111	NM_012340.5(NFATC2):c.*71T>G	NFATC2 (S698A +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Dilated cardiomyopathy 1A	GLikely pathogenic
Select item 1693110	NM_182961.4(SYNE1):c.2444T>C (p.Ile815Thr)	SYNE1 (I815T +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1A	GLikely pathogenic
Select item 1693109	NM_012431.3(SEMA3E):c.1873G>A (p.Glu625Lys)	SEMA3E (E565K +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1A	GLikely pathogenic
Select item 1685368	NM_170707.4(LMNA):c.1969-2A>T	LMNA	Single nucleotide variant (splice acceptor variant)	Dilated cardiomyopathy 1A	GLikely pathogenic
Select item 1677618	NM_170707.4(LMNA):c.689A>G (p.Asp230Gly)	LMNA (D118G +2 more)	Single nucleotide variant (missense variant)	not provided +12 more	GUncertain significance
Select item 1526037	NM_170707.4(LMNA):c.1608+2T>A	LMNA	Single nucleotide variant (splice donor variant)	Dilated cardiomyopathy 1A	GLikely pathogenic
Select item 1518015	NM_170707.4(LMNA):c.244G>C (p.Glu82Gln)	LMNA (E82Q)	Single nucleotide variant (missense variant)	Heart-hand syndrome, Slovenian type +12 more	GConflicting classifications of pathogenicity
Select item 1504530	NM_170707.4(LMNA):c.356G>T (p.Arg119Leu)	LMNA (R119L)	Single nucleotide variant (missense variant)	Restrictive dermopathy 2 +11 more	GUncertain significance
Select item 1457399	NM_170707.4(LMNA):c.822del (p.Arg275fs)	LMNA (R275fs +2 more)	Deletion (frameshift variant)	Charcot-Marie-Tooth disease type 2 +11 more	GPathogenic/Likely pathogenic
Select item 1364459	NM_170707.4(LMNA):c.878A>T (p.Gln293Leu)	LMNA (Q212L +2 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2B1 +11 more	GUncertain significance
Select item 1350707	NM_170707.4(LMNA):c.47C>A (p.Ala16Asp)	LMNA, LOC129931597 (A16D)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2B1 +11 more	GUncertain significance
Select item 1343751	NM_170707.4(LMNA):c.1646_1647del (p.Val549fs)	LMNA (V437fs +2 more)	Microsatellite (frameshift variant +1 more)	Charcot-Marie-Tooth disease type 2B1 +11 more	GLikely pathogenic
Select item 1341358	NM_170707.4(LMNA):c.168C>G (p.Asn56Lys)	LMNA (N56K)	Single nucleotide variant (missense variant)	Heart-hand syndrome, Slovenian type +6 more	GLikely pathogenic
Select item 1329345	NM_170707.4(LMNA):c.940G>A (p.Ala314Thr)	LMNA (A202T +2 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2B1 +12 more	GUncertain significance
Select item 1329344	NM_170707.4(LMNA):c.370G>A (p.Glu124Lys)	LMNA, LOC126805877 (E124K +2 more)	Single nucleotide variant (missense variant)	Cardiomyopathy +1 more	GConflicting classifications of pathogenicity
Select item 1329343	NM_170707.4(LMNA):c.1712G>A (p.Ser571Asn)	LMNA (S459N +2 more)	Single nucleotide variant (missense variant)	Familial partial lipodystrophy, Dunnigan type +2 more	GUncertain significance
Select item 1174962	NM_170707.4(LMNA):c.71C>T (p.Thr24Ile)	LMNA, LOC129931597 (T24I)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +12 more	GUncertain significance
Select item 1172352	NM_170707.4(LMNA):c.1601C>G (p.Thr534Ser)	LMNA (T422S +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +14 more	GUncertain significance
Select item 1172290	NM_170707.4(LMNA):c.467G>A (p.Arg156His)	LMNA, LOC126805877 (R156H +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +15 more	GUncertain significance
Select item 1077066	NM_170707.4(LMNA):c.992G>T (p.Arg331Leu)	LMNA (R219L +2 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1A	GLikely pathogenic
Select item 1056234	NM_170707.4(LMNA):c.1971C>A (p.Ser657Arg)	LMNA (S545R +3 more)	Single nucleotide variant (missense variant)	Familial partial lipodystrophy, Dunnigan type +11 more	GUncertain significance
Select item 1034351	NM_170707.4(LMNA):c.890T>A (p.Ile297Asn)	LMNA (I216N +2 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1A	GUncertain significance
Select item 1034350	NM_170707.4(LMNA):c.810+17G>A	LMNA	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2 +1 more	GConflicting classifications of pathogenicity
Select item 1029259	NM_170707.4(LMNA):c.187A>C (p.Ile63Leu)	LMNA (I63L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +13 more	GConflicting classifications of pathogenicity
Select item 1027845	NM_170707.4(LMNA):c.133T>C (p.Tyr45His)	LMNA (Y45H)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +2 more	GConflicting classifications of pathogenicity
Select item 1025610	NM_170707.4(LMNA):c.1655A>C (p.Asp552Ala)	LMNA (D440A +2 more)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease type 2 +11 more	GUncertain significance
Select item 978376	NM_000116.5(TAFAZZIN):c.657C>G (p.Asp219Glu)	TAFAZZIN (D175E +4 more)	Single nucleotide variant (missense variant +1 more)	3-Methylglutaconic aciduria type 2 +1 more	GUncertain significance
Select item 978372	NM_000117.3(EMD):c.19C>T (p.Leu7Phe)	EMD (L7F)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1A	GUncertain significance
Select item 978350	NM_144573.4(NEXN):c.460A>G (p.Asn154Asp)	NEXN (N154D +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1A	GUncertain significance
Select item 978349	NM_144573.4(NEXN):c.1073C>T (p.Pro358Leu)	NEXN (P294L +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 978348	NM_144573.4(NEXN):c.1695C>G (p.Ile565Met)	NEXN (I501M +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1A	GUncertain significance
Select item 978346	NM_032578.4(MYPN):c.1103G>A (p.Gly368Asp)	MYPN (G368D +1 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 978343	NM_004006.3(DMD):c.6847A>G (p.Ile2283Val)	DMD (I2160V +5 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 978336	NM_001267550.2(TTN):c.94291G>T (p.Glu31431Ter)	TTN, TTN-AS1 (E22366* +5 more)	Single nucleotide variant (nonsense)	Cardiovascular phenotype +3 more	GPathogenic/Likely pathogenic
Select item 978335	NM_001267550.2(TTN):c.65890A>T (p.Lys21964Ter)	TTN, TTN-AS1 (K12899* +5 more)	Single nucleotide variant (nonsense)	Dilated cardiomyopathy 1A	GPathogenic
Select item 978334	NM_001267550.2(TTN):c.68823C>A (p.Tyr22941Ter)	TTN, TTN-AS1 (Y13876* +5 more)	Single nucleotide variant (nonsense)	Dilated cardiomyopathy 1A	GPathogenic
Select item 978330	NM_004415.4(DSP):c.6348_6351del (p.Asp2117fs)	DSP (D1518fs +2 more)	Microsatellite (frameshift variant)	Dilated cardiomyopathy 1A	GLikely pathogenic
Select item 978329	NM_004415.4(DSP):c.7850G>A (p.Ser2617Asn)	DSP (S2018N +2 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1A	GUncertain significance
Select item 978315	NM_001103.4(ACTN2):c.463G>A (p.Glu155Lys)	ACTN2 (E155K)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1A	GUncertain significance
Select item 978311	NM_005159.5(ACTC1):c.854T>A (p.Met285Lys)	ACTC1, GJD2-DT (M285K)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1R +3 more	GUncertain significance
Select item 978310	NM_005159.5(ACTC1):c.455G>A (p.Gly152Asp)	ACTC1, GJD2-DT (G152D)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1A	GUncertain significance
Select item 978309	NM_004281.4(BAG3):c.568_577del (p.Ser190fs)	BAG3 (S190fs)	Deletion (frameshift variant)	Dilated cardiomyopathy 1A	GLikely pathogenic
Select item 978300	NM_032578.4(MYPN):c.2476C>A (p.Pro826Thr)	MYPN (P532T +1 more)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1A	GUncertain significance
Select item 978284	NM_001267550.2(TTN):c.71437_71440dup (p.Thr23814fs)	TTN, TTN-AS1 (T14749fs +5 more)	Duplication (frameshift variant)	Dilated cardiomyopathy 1A	GPathogenic
Select item 978279	NM_001943.5(DSG2):c.2768C>G (p.Pro923Arg)	DSG2, DSG2-AS1 (P923R)	Single nucleotide variant (missense variant)	Cardiomyopathy +3 more	GUncertain significance
Select item 978278	NM_024422.6(DSC2):c.1281A>C (p.Glu427Asp)	DSC2 (E427D)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1A +1 more	GUncertain significance
Select item 976194	NM_170707.4(LMNA):c.193G>C (p.Glu65Gln)	LMNA (E65Q)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1A	GUncertain significance
Select item 965914	NM_170707.4(LMNA):c.1234G>T (p.Gly412Trp)	LMNA (G300W +2 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +12 more	GUncertain significance
Select item 958149	NM_170707.4(LMNA):c.1287C>G (p.Ser429Arg)	LMNA (S317R +2 more)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 2, autosomal dominant +11 more	GUncertain significance
Select item 952652	NM_170707.4(LMNA):c.671C>T (p.Thr224Ile)	LMNA (T112I +2 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 948103	NM_170707.4(LMNA):c.1282A>G (p.Ser428Gly)	LMNA (S316G +2 more)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 2, autosomal dominant +11 more	GUncertain significance
Select item 931866	NM_170707.4(LMNA):c.1488G>C (p.Thr496=)	LMNA	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1A	GUncertain significance
Select item 930968	NM_170707.4(LMNA):c.1678G>A (p.Asp560Asn)	LMNA (D448N +2 more)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1A	GUncertain significance
Select item 928831	NM_170707.4(LMNA):c.1237G>T (p.Gly413Cys)	LMNA (G301C +2 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2B1 +13 more	GUncertain significance
Select item 928099	NM_170707.4(LMNA):c.1485G>A (p.Val495=)	LMNA	Single nucleotide variant (synonymous variant)	Cardiomyopathy +11 more	GLikely benign
Select item 927247	NM_170707.4(LMNA):c.1364G>A (p.Arg455His)	LMNA (R343H +2 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +13 more	GUncertain significance
Select item 926754	NM_170707.4(LMNA):c.1286G>A (p.Ser429Asn)	LMNA (S429N +2 more)	Single nucleotide variant (missense variant)	Cardiomyopathy +12 more	GUncertain significance
Select item 925242	NM_170707.4(LMNA):c.293A>G (p.Glu98Gly)	LMNA (E98G)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +12 more	GUncertain significance
Select item 924728	NM_170707.4(LMNA):c.1699-9C>T	LMNA	Single nucleotide variant (intron variant)	Cardiomyopathy +13 more	GLikely benign
Select item 923835	NM_170707.4(LMNA):c.369G>A (p.Lys123=)	LMNA, LOC126805877	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2 +13 more	GLikely benign
Select item 923351	NM_170707.4(LMNA):c.1006C>T (p.Arg336Trp)	LMNA (R255W +2 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +13 more	GConflicting classifications of pathogenicity
Select item 921488	NM_170707.4(LMNA):c.1699-7T>C	LMNA	Single nucleotide variant (intron variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 918633	NM_170707.4(LMNA):c.977C>T (p.Ser326Leu)	LMNA (S326L +2 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +14 more	GUncertain significance
Select item 918198	NM_170707.4(LMNA):c.511A>G (p.Lys171Glu)	LMNA, LOC126805877 (K171E +2 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +12 more	GUncertain significance
Select item 917027	NM_170707.4(LMNA):c.1968+18dup	LMNA	Duplication (intron variant)	Heart-hand syndrome, Slovenian type +13 more	GBenign/Likely benign
Select item 916768	NM_170707.4(LMNA):c.1489-16C>G	LMNA	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2 +14 more	GBenign/Likely benign
Select item 876083	NM_170707.4(LMNA):c.1338T>G (p.Asp446Glu)	LMNA (D334E +2 more)	Single nucleotide variant (missense variant)	Cardiomyopathy +10 more	GUncertain significance
Select item 875747	NM_170707.4(LMNA):c.356+12C>A	LMNA	Single nucleotide variant (intron variant)	Emery-Dreifuss muscular dystrophy +9 more	GUncertain significance
Select item 875382	NM_170707.4(LMNA):c.1698+83G>A	LMNA	Single nucleotide variant (3 prime UTR variant +1 more)	Emery-Dreifuss muscular dystrophy +9 more	GUncertain significance
Select item 874656	NM_005572.3(LMNA):c.-223C>T	LMNA	Single nucleotide variant (5 prime UTR variant +1 more)	Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules +10 more	GConflicting classifications of pathogenicity
Select item 874034	NM_170707.4(LMNA):c.796A>G (p.Thr266Ala)	LMNA (T154A +2 more)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy +9 more	GUncertain significance
Select item 873801	NM_170707.4(LMNA):c.-44T>A	LMNA	Single nucleotide variant (5 prime UTR variant)	Emery-Dreifuss muscular dystrophy +9 more	GUncertain significance
Select item 871955	NM_005572.4(LMNA):c.1715G>A (p.Arg572His)	LMNA (R491H +1 more)	Single nucleotide variant (missense variant +1 more)	Familial partial lipodystrophy, Dunnigan type +11 more	GUncertain significance
Select item 860145	NM_170707.4(LMNA):c.272C>T (p.Thr91Ile)	LMNA (T91I)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +12 more	GUncertain significance
Select item 857178	NM_000335.5(SCN5A):c.2819G>A (p.Ser940Asn)	LOC110121269, SCN5A (S940N)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1A +2 more	GUncertain significance
Select item 853705	NM_170707.4(LMNA):c.692A>G (p.Asn231Ser)	LMNA (N150S +2 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome +14 more	GUncertain significance
Select item 845155	NM_170707.4(LMNA):c.326T>A (p.Val109Glu)	LMNA (V109E)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome +11 more	GUncertain significance
Select item 835941	NM_000363.5(TNNI3):c.79C>T (p.Arg27Cys)	TNNI3 (R27C)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 807073	NM_002471.4(MYH6):c.5278G>A (p.Ala1760Thr)	MYH6 (A1760T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +7 more	GUncertain significance
Select item 806244	NM_170707.4(LMNA):c.1300G>A (p.Ala434Thr)	LMNA (A353T +2 more)	Single nucleotide variant (missense variant)	Familial partial lipodystrophy, Dunnigan type +11 more	GUncertain significance
Select item 804298	NM_170707.4(LMNA):c.80C>T (p.Thr27Ile)	LMNA, LOC129931597 (T27I)	Single nucleotide variant (missense variant)	Congenital muscular dystrophy due to LMNA mutation +1 more	GLikely pathogenic
Select item 773954	NM_170707.4(LMNA):c.937-5T>C	LMNA	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1A +3 more	GConflicting classifications of pathogenicity
Select item 758400	NM_170707.4(LMNA):c.1381-6C>G	LMNA	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2 +11 more	GLikely benign
Select item 755163	NM_000237.3(LPL):c.112G>A (p.Glu38Lys)	LPL (E38K)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 702959	NM_170707.4(LMNA):c.1488+7G>A	LMNA	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2 +12 more	GLikely benign
Select item 698186	NM_170707.4(LMNA):c.1227A>G (p.Thr409=)	LMNA	Single nucleotide variant (synonymous variant)	not provided +13 more	GConflicting classifications of pathogenicity
Select item 694069	NM_170707.4(LMNA):c.475G>T (p.Glu159Ter)	LMNA, LOC126805877 (E159* +2 more)	Single nucleotide variant (nonsense)	Charcot-Marie-Tooth disease type 2 +1 more	GPathogenic

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