ClinVar for MedGen (Select 258500) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3775011	NM_170707.4(LMNA):c.1132A>C (p.Lys378Gln)	LMNA (K170Q +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1A	GLikely pathogenic
Select item 3774417	NM_170707.4(LMNA):c.1519A>G (p.Ser507Gly)	LMNA (S299G +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1A	GUncertain significance
Select item 3767242	NM_170707.4(LMNA):c.635G>A (p.Ser212Asn)	LMNA (S100N +4 more)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1A	GUncertain significance
Select item 3598590	NM_170707.4(LMNA):c.1840G>T (p.Gly614Cys)	LMNA (G428C +6 more)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1A +10 more	GUncertain significance
Select item 3598524	NM_170707.4(LMNA):c.1699-1_1706dup	LMNA	Duplication (splice acceptor variant)	Dilated cardiomyopathy 1A +10 more	GUncertain significance
Select item 3598448	NM_170707.4(LMNA):c.1499C>T (p.Ala500Val)	LMNA (A314V +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1A +10 more	GUncertain significance
Select item 3597402	NM_170707.4(LMNA):c.1122C>G (p.His374Gln)	LMNA (H293Q +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1A +10 more	GUncertain significance
Select item 3596946	NM_170707.4(LMNA):c.957G>C (p.Lys319Asn)	LMNA (K111N +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1A +10 more	GUncertain significance
Select item 3596788	NM_170707.4(LMNA):c.867C>A (p.His289Gln)	LMNA (H190Q +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1A +10 more	GUncertain significance
Select item 3596181	NM_170707.4(LMNA):c.394G>T (p.Ala132Ser)	LMNA, LOC126805877 (A132S +3 more)	Single nucleotide variant (missense variant +2 more)	Dilated cardiomyopathy 1A +10 more	GUncertain significance
Select item 3595780	NM_170707.4(LMNA):c.64T>C (p.Ser22Pro)	LMNA, LOC129931597 (S22P)	Single nucleotide variant (missense variant +2 more)	Dilated cardiomyopathy 1A +10 more	GUncertain significance
Select item 3595738	NM_170707.4(LMNA):c.41C>T (p.Ala14Val)	LMNA, LOC129931597 (A14V)	Single nucleotide variant (missense variant +2 more)	Dilated cardiomyopathy 1A +10 more	GUncertain significance
Select item 3595598	NM_170707.4(LMNA):c.5del (p.Glu2fs)	LMNA (E2fs)	Deletion (frameshift variant +2 more)	Dilated cardiomyopathy 1A +11 more	GPathogenic
Select item 3377404	NM_170707.4(LMNA):c.502C>T (p.Gln168Ter)	LMNA, LOC126805877 (Q168* +3 more)	Single nucleotide variant (nonsense +2 more)	Dilated cardiomyopathy 1A	GLikely pathogenic
Select item 3376670	NM_170707.4(LMNA):c.751del (p.Gln251fs)	LMNA (Q139fs +5 more)	Deletion (frameshift variant)	Dilated cardiomyopathy 1A	GPathogenic
Select item 3366987	NM_001458.5(FLNC):c.3838dup (p.Leu1280fs)	FLNC (L1280fs)	Duplication (frameshift variant)	Dilated cardiomyopathy 1A	GPathogenic
Select item 3362891	NM_170707.4(LMNA):c.165G>T (p.Glu55Asp)	LMNA (E55D)	Single nucleotide variant (missense variant +2 more)	Dilated cardiomyopathy 1A	GUncertain significance
Select item 3362400	NM_170707.4(LMNA):c.1070A>C (p.Asp357Ala)	LMNA (D149A +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1A	GUncertain significance
Select item 3233408	NM_170707.4(LMNA):c.595A>G (p.Thr199Ala)	LMNA (T100A +4 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3073113	NM_170707.4(LMNA):c.1453C>T (p.Pro485Ser)	LMNA (P277S +5 more)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy +11 more	GUncertain significance
Select item 3071113	NM_170707.4(LMNA):c.1520G>A (p.Ser507Asn)	LMNA (S299N +5 more)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy +12 more	GUncertain significance
Select item 3070790	NM_170707.4(LMNA):c.190A>G (p.Thr64Ala)	LMNA (T64A)	Single nucleotide variant (missense variant +2 more)	Primary dilated cardiomyopathy +11 more	GUncertain significance
Select item 2977457	NM_170707.4(LMNA):c.1034T>C (p.Met345Thr)	LMNA (M137T +5 more)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy +14 more	GUncertain significance
Select item 2860240	NM_170707.4(LMNA):c.1046G>A (p.Arg349Gln)	LMNA (R141Q +5 more)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy +12 more	GConflicting classifications of pathogenicity
Select item 2791821	NM_170707.4(LMNA):c.507G>A (p.Val169=)	LMNA, LOC126805877	Single nucleotide variant (synonymous variant +2 more)	Dilated cardiomyopathy 1A +11 more	GUncertain significance
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, TTN-AS1 (A14063fs +5 more)	Insertion (frameshift variant)	Dilated cardiomyopathy 1A	GLikely pathogenic
Select item 2199046	NM_170707.4(LMNA):c.1016C>T (p.Ala339Val)	LMNA (A339V +2 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +11 more	GUncertain significance
Select item 1924187	NM_170707.4(LMNA):c.1894A>G (p.Ser632Gly)	LMNA (S632G +6 more)	Single nucleotide variant (missense variant +1 more)	Hutchinson-Gilford syndrome +11 more	GUncertain significance
Select item 1750607	NM_170707.4(LMNA):c.593A>G (p.Gln198Arg)	LMNA (Q86R +4 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +12 more	GConflicting classifications of pathogenicity
Select item 1746556	NM_170707.4(LMNA):c.1198G>A (p.Gly400Ser)	LMNA (G301S +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +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 +1 more	GConflicting classifications of pathogenicity
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)	Emery-Dreifuss muscular dystrophy 2, autosomal dominant +12 more	GConflicting classifications of pathogenicity
Select item 1513070	NM_170707.4(LMNA):c.238G>C (p.Ala80Pro)	LMNA (A80P)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +1 more	GUncertain significance
Select item 1504530	NM_170707.4(LMNA):c.356G>T (p.Arg119Leu)	LMNA (R119L)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +11 more	GUncertain significance
Select item 1501721	NM_170707.4(LMNA):c.11C>A (p.Pro4Gln)	LMNA (P4Q)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 2, autosomal dominant +12 more	GConflicting classifications of pathogenicity
Select item 1457399	NM_170707.4(LMNA):c.822del (p.Arg275fs)	LMNA (R275fs +2 more)	Deletion (frameshift variant)	Emery-Dreifuss muscular dystrophy 2, autosomal dominant +11 more	GPathogenic/Likely pathogenic
Select item 1382049	NM_170707.4(LMNA):c.540G>A (p.Lys180=)	LMNA	Single nucleotide variant (synonymous variant)	Congenital muscular dystrophy due to LMNA mutation +13 more	GLikely benign
Select item 1364459	NM_170707.4(LMNA):c.878A>T (p.Gln293Leu)	LMNA (Q212L +2 more)	Single nucleotide variant (missense variant)	Familial partial lipodystrophy, Dunnigan type +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 2 +12 more	GUncertain significance
Select item 1343751	NM_170707.4(LMNA):c.1646_1647del (p.Val549fs)	LMNA (V437fs +2 more)	Microsatellite (frameshift variant +1 more)	Cardiomyopathy +11 more	GLikely pathogenic
Select item 1341358	NM_170707.4(LMNA):c.168C>G (p.Asn56Lys)	LMNA (N56K)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 2, autosomal dominant +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)	Cardiomyopathy +13 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)	Cardiomyopathy +11 more	GUncertain significance
Select item 1284657	NM_170707.4(LMNA):c.1786_1800del (p.Asp596_Ala600del)	LMNA	Deletion (inframe_deletion)	Dilated cardiomyopathy 1A +11 more	GConflicting classifications of pathogenicity
Select item 1174962	NM_170707.4(LMNA):c.71C>T (p.Thr24Ile)	LMNA, LOC129931597 (T24I)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy +13 more	GUncertain significance
Select item 1172352	NM_170707.4(LMNA):c.1601C>G (p.Thr534Ser)	LMNA (T422S +2 more)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy +15 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)	Primary dilated cardiomyopathy +16 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)	Restrictive dermopathy 2 +12 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)	Hutchinson-Gilford syndrome +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)	Dilated cardiomyopathy 1A +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)	Primary dilated cardiomyopathy +12 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)	Dilated cardiomyopathy 1A +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)	Hypertrophic cardiomyopathy 20 +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)	Dilated cardiomyopathy 1A +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)	Dilated cardiomyopathy 1G +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 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)	Arrhythmogenic right ventricular dysplasia 10 +5 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)	Cardiovascular phenotype +12 more	GUncertain significance
Select item 959267	NM_170707.4(LMNA):c.983C>T (p.Ala328Val)	LMNA (A247V +2 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +11 more	GUncertain significance
Select item 958149	NM_170707.4(LMNA):c.1287C>G (p.Ser429Arg)	LMNA (S317R +2 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +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)	Charcot-Marie-Tooth disease type 2B1 +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)	not specified +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)	Primary dilated cardiomyopathy +14 more	GUncertain significance

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