ClinVar for MedGen (Select 2880) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3377164	NM_001458.5(FLNC):c.5298G>A (p.Trp1766Ter)	FLNC (W1766*)	Single nucleotide variant (nonsense +1 more)	Primary dilated cardiomyopathy	GUncertain significance
Select item 3376837	NM_004415.4(DSP):c.4477G>T (p.Glu1493Ter)	DSP (E1493*)	Single nucleotide variant (nonsense +1 more)	Primary dilated cardiomyopathy	GPathogenic
Select item 3376666	NM_004415.4(DSP):c.3913del (p.Asp1305fs)	DSP (D1305fs)	Deletion (frameshift variant +1 more)	Primary dilated cardiomyopathy	GLikely pathogenic
Select item 3338364	NM_001267550.2(TTN):c.96598_96599del (p.Ser32200fs)	LOC126806421, TTN +1 more (S23135fs +5 more)	Microsatellite (frameshift variant)	Primary dilated cardiomyopathy	GLikely pathogenic
Select item 3338363	NM_001267550.2(TTN):c.92221_92276dup (p.Glu30760fs)	TTN, TTN-AS1 (E21695fs +5 more)	Duplication (frameshift variant)	Primary dilated cardiomyopathy	GLikely pathogenic
Select item 3338362	NM_001267550.2(TTN):c.90715del (p.Ala30239fs)	TTN, TTN-AS1 (A21174fs +5 more)	Deletion (frameshift variant)	Primary dilated cardiomyopathy	GLikely pathogenic
Select item 3338361	NM_001267550.2(TTN):c.89488del (p.Ala29830fs)	TTN, TTN-AS1 (A20765fs +5 more)	Deletion (frameshift variant)	Primary dilated cardiomyopathy	GLikely pathogenic
Select item 3338360	NM_001267550.2(TTN):c.86689_86704del (p.Asn28897fs)	TTN, TTN-AS1 (N19832fs +5 more)	Deletion (frameshift variant)	Primary dilated cardiomyopathy	GLikely pathogenic
Select item 3338359	NM_001267550.2(TTN):c.84558_84559del (p.Ile28187fs)	TTN, TTN-AS1 (I19122fs +5 more)	Deletion (frameshift variant)	Primary dilated cardiomyopathy	GLikely pathogenic
Select item 3338358	NM_001267550.2(TTN):c.81726del (p.Glu27242fs)	TTN, TTN-AS1 (E18177fs +5 more)	Deletion (frameshift variant)	Primary dilated cardiomyopathy	GLikely pathogenic
Select item 3338357	NM_001267550.2(TTN):c.79101T>A (p.Tyr26367Ter)	TTN, TTN-AS1 (Y17302* +5 more)	Single nucleotide variant (nonsense)	Primary dilated cardiomyopathy	GLikely pathogenic
Select item 3338356	NM_001267550.2(TTN):c.75436del (p.Trp25145_Ile25146insTer)	TTN, TTN-AS1	Deletion (nonsense)	Primary dilated cardiomyopathy	GLikely pathogenic
Select item 3338354	NM_001267550.2(TTN):c.70476C>A (p.Cys23492Ter)	LOC126806422, TTN +1 more (C14427* +5 more)	Single nucleotide variant (nonsense)	Primary dilated cardiomyopathy	GLikely pathogenic
Select item 3338353	NM_001267550.2(TTN):c.68172T>G (p.Tyr22724Ter)	LOC126806423, TTN +1 more (Y13659* +5 more)	Single nucleotide variant (nonsense)	Primary dilated cardiomyopathy	GLikely pathogenic
Select item 3338352	NM_001267550.2(TTN):c.65329_65333del (p.Ile21777fs)	TTN, TTN-AS1 (I12712fs +5 more)	Deletion (non-coding transcript variant +1 more)	Primary dilated cardiomyopathy	GLikely pathogenic
Select item 3338351	NM_001267550.2(TTN):c.61769G>A (p.Trp20590Ter)	TTN, TTN-AS1 (W11525* +5 more)	Single nucleotide variant (nonsense)	Primary dilated cardiomyopathy	GLikely pathogenic
Select item 3338350	NM_001267550.2(TTN):c.60415A>T (p.Lys20139Ter)	TTN, TTN-AS1 (K11074* +5 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Primary dilated cardiomyopathy	GLikely pathogenic
Select item 3338349	NM_001267550.2(TTN):c.55549G>T (p.Glu18517Ter)	TTN, TTN-AS1 (E15949* +5 more)	Single nucleotide variant (nonsense)	Primary dilated cardiomyopathy	GLikely pathogenic
Select item 3338348	NM_001267550.2(TTN):c.54853del (p.Thr18285fs)	TTN, TTN-AS1 (T15717fs +5 more)	Deletion (frameshift variant)	Primary dilated cardiomyopathy	GLikely pathogenic
Select item 3338347	NM_001267550.2(TTN):c.54812-2_54813del	TTN, TTN-AS1	Deletion (splice acceptor variant)	Primary dilated cardiomyopathy	GLikely pathogenic
Select item 3338346	NM_001267550.2(TTN):c.54342G>A (p.Trp18114Ter)	TTN, TTN-AS1 (W15546* +5 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Primary dilated cardiomyopathy	GLikely pathogenic
Select item 3338345	NM_001267550.2(TTN):c.53294del (p.Pro17765fs)	LOC126806425, TTN +1 more (P8700fs +5 more)	Deletion (frameshift variant)	Primary dilated cardiomyopathy	GLikely pathogenic
Select item 3338344	NM_001267550.2(TTN):c.51817G>T (p.Gly17273Ter)	TTN, TTN-AS1 (G14705* +5 more)	Single nucleotide variant (nonsense)	Primary dilated cardiomyopathy	GLikely pathogenic
Select item 3338343	NM_001267550.2(TTN):c.48836del (p.Pro16279fs)	LOC126806426, TTN +1 more (P13711fs +5 more)	Deletion (non-coding transcript variant +1 more)	Primary dilated cardiomyopathy	GLikely pathogenic
Select item 3338341	NM_001276345.2(TNNT2):c.275G>A (p.Gly92Glu)	TNNT2 (G77E +4 more)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy	GLikely pathogenic
Select item 3338340	NM_000337.6(SGCD):c.382+1G>A	SGCD	Single nucleotide variant (splice donor variant)	Primary dilated cardiomyopathy	GPathogenic
Select item 3255150	NM_001458.5(FLNC):c.6300C>G (p.Tyr2100Ter)	FLNC, FLNC-AS1 (Y2067* +1 more)	Single nucleotide variant (nonsense)	Primary dilated cardiomyopathy	GPathogenic
Select item 3250489	NM_001018005.2(TPM1):c.88A>G (p.Lys30Glu)	TPM1 (K30E)	Single nucleotide variant (missense variant +1 more)	Primary dilated cardiomyopathy	GUncertain significance
Select item 3247005	NC_000022.10:g.(?_19903225)_(19906419_?)del	TXNRD2	Deletion	Primary dilated cardiomyopathy	GUncertain significance
Select item 3246993	NC_000022.10:g.(?_19747167)_(20052185_?)dup	ARVCF, COMT +5 more	Duplication	Primary dilated cardiomyopathy	GUncertain significance
Select item 3246982	NC_000022.10:g.(?_19882910)_(19886611_?)del	TXNRD2	Deletion	Primary dilated cardiomyopathy	GUncertain significance
Select item 3246971	NC_000022.10:g.(?_19885542)_(19886611_?)del	TXNRD2	Deletion	Primary dilated cardiomyopathy	GUncertain significance
Select item 3246580	NC_000004.11:g.(?_186387458)_(186429460_?)del	CCDC110, PDLIM3	Deletion	Primary dilated cardiomyopathy +1 more	GUncertain significance
Select item 3246579	NC_000004.11:g.(?_186427656)_(186429736_?)del	PDLIM3	Deletion	Primary dilated cardiomyopathy +1 more	GUncertain significance
Select item 3244808	NC_000010.10:g.(?_21074676)_(21186134_?)dup	NEBL	Duplication	Primary dilated cardiomyopathy	GUncertain significance
Select item 3244807	NC_000010.10:g.(?_21120105)_(21120532_?)del	NEBL	Deletion	Primary dilated cardiomyopathy	GUncertain significance
Select item 3244804	NC_000010.10:g.(?_21185867)_(21186134_?)del	NEBL	Deletion	Primary dilated cardiomyopathy	GUncertain significance
Select item 3244803	NC_000010.10:g.(?_21098715)_(21098847_?)del	NEBL	Deletion	Primary dilated cardiomyopathy	GUncertain significance
Select item 3236851	NM_170707.4(LMNA):c.1157+2T>A	LMNA	Single nucleotide variant (splice donor variant)	Primary dilated cardiomyopathy	GPathogenic
Select item 3076073	NM_001267550.2(TTN):c.62751del (p.Val20918fs)	TTN, TTN-AS1 (V11853fs +5 more)	Deletion (frameshift variant)	Primary dilated cardiomyopathy	GLikely pathogenic
Select item 3076072	NC_000014.9:g.(?_23412738)_(23420234_?)del	LOC126861897, MHRT +2 more	Deletion	Primary dilated cardiomyopathy	GLikely pathogenic
Select item 3076051	NM_001267550.2(TTN):c.77421C>A (p.Tyr25807Ter)	TTN, TTN-AS1 (Y16742* +5 more)	Single nucleotide variant (nonsense)	Primary dilated cardiomyopathy	GLikely pathogenic
Select item 3076049	NM_001267550.2(TTN):c.13357_13358del (p.Glu4453fs)	TTN (E4090fs +4 more)	Deletion (frameshift variant +1 more)	Primary dilated cardiomyopathy	GLikely pathogenic
Select item 3076047	NM_001267550.2(TTN):c.90040G>T (p.Gly30014Ter)	TTN, TTN-AS1 (G20949* +5 more)	Single nucleotide variant (nonsense)	Primary dilated cardiomyopathy	GLikely pathogenic
Select item 3076000	NM_001267550.2(TTN):c.81988C>T (p.Gln27330Ter)	TTN, TTN-AS1 (Q18265* +5 more)	Single nucleotide variant (nonsense)	Primary dilated cardiomyopathy +1 more	GPathogenic/Likely pathogenic
Select item 3075948	NM_001267550.2(TTN):c.86379_86382del (p.Asp28794fs)	TTN, TTN-AS1 (D19729fs +5 more)	Deletion (frameshift variant)	Primary dilated cardiomyopathy	GLikely pathogenic
Select item 3075939	NM_001267550.2(TTN):c.102850del (p.His34284fs)	TTN, TTN-AS1 (H25219fs +5 more)	Deletion (frameshift variant)	Primary dilated cardiomyopathy	GLikely pathogenic
Select item 3075913	NM_001267550.2(TTN):c.72799C>T (p.Gln24267Ter)	TTN, TTN-AS1 (Q15202* +5 more)	Single nucleotide variant (nonsense)	Primary dilated cardiomyopathy	GLikely pathogenic
Select item 3075912	NM_001267550.2(TTN):c.106953C>G (p.Tyr35651Ter)	TTN, TTN-AS1 (Y26586* +5 more)	Single nucleotide variant (nonsense)	Primary dilated cardiomyopathy +1 more	GLikely pathogenic
Select item 3075871	NM_001267550.2(TTN):c.76195del (p.Ala25399fs)	TTN, TTN-AS1 (A16334fs +5 more)	Deletion (frameshift variant)	Primary dilated cardiomyopathy	GLikely pathogenic
Select item 3075832	NM_001267550.2(TTN):c.40791dup (p.Lys13598fs)	TTN (K11030fs +5 more)	Duplication (frameshift variant)	Primary dilated cardiomyopathy	GLikely pathogenic
Select item 3075747	NM_001267550.2(TTN):c.3937A>T (p.Lys1313Ter)	LOC101927055, TTN (K1267* +1 more)	Single nucleotide variant (nonsense)	Primary dilated cardiomyopathy	GLikely pathogenic
Select item 3075746	NM_001267550.2(TTN):c.41717G>A (p.Trp13906Ter)	TTN (W11338* +5 more)	Single nucleotide variant (nonsense)	Primary dilated cardiomyopathy	GLikely pathogenic
Select item 3075745	NM_001267550.2(TTN):c.74707C>T (p.Gln24903Ter)	TTN, TTN-AS1 (Q15838* +5 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Primary dilated cardiomyopathy	GLikely pathogenic
Select item 3075744	NM_001267550.2(TTN):c.77149_77150del (p.Leu25717fs)	TTN, TTN-AS1 (L16652fs +5 more)	Microsatellite (frameshift variant)	Primary dilated cardiomyopathy	GLikely pathogenic
Select item 3075743	NM_001267550.2(TTN):c.80262C>G (p.Tyr26754Ter)	TTN, TTN-AS1 (Y17689* +5 more)	Single nucleotide variant (nonsense)	Primary dilated cardiomyopathy	GLikely pathogenic
Select item 3075742	NM_001267550.2(TTN):c.91528_91529del (p.Gln30510fs)	TTN, TTN-AS1 (Q21445fs +5 more)	Microsatellite (frameshift variant)	Primary dilated cardiomyopathy	GLikely pathogenic
Select item 3075741	NM_001267550.2(TTN):c.92284A>T (p.Lys30762Ter)	TTN, TTN-AS1 (K21697* +5 more)	Single nucleotide variant (nonsense)	Primary dilated cardiomyopathy	GLikely pathogenic
Select item 3075406	NM_170707.4(LMNA):c.1431C>T (p.Pro477=)	LMNA	Single nucleotide variant (synonymous variant)	Primary dilated cardiomyopathy	GLikely benign
Select item 3075315	NM_170707.4(LMNA):c.1995A>T (p.Ter665Tyr)	LMNA	Single nucleotide variant (stop lost +1 more)	Primary dilated cardiomyopathy	GUncertain significance
Select item 3075219	NM_170707.4(LMNA):c.1145G>A (p.Gly382Asp)	LMNA (G174D +5 more)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy	GUncertain significance
Select item 3075022	NM_170707.4(LMNA):c.1256G>T (p.Arg419Leu)	LMNA (R211L +5 more)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy	GUncertain significance
Select item 3074892	NM_170707.4(LMNA):c.295C>G (p.Arg99Gly)	LMNA (R99G)	Single nucleotide variant (missense variant +2 more)	Primary dilated cardiomyopathy	GUncertain significance
Select item 3074864	NM_170707.4(LMNA):c.388G>T (p.Ala130Ser)	LOC126805877, LMNA (A130S +3 more)	Single nucleotide variant (missense variant +2 more)	Primary dilated cardiomyopathy	GUncertain significance
Select item 3074679	NM_170707.4(LMNA):c.1524C>A (p.Pro508=)	LMNA	Single nucleotide variant (synonymous variant)	Primary dilated cardiomyopathy	GLikely benign
Select item 3074640	NM_170707.4(LMNA):c.1510G>A (p.Ala504Thr)	LMNA (A296T +5 more)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy	GUncertain significance
Select item 3074592	NM_170707.4(LMNA):c.539A>G (p.Lys180Arg)	LMNA (K68R +3 more)	Single nucleotide variant (missense variant +1 more)	Primary dilated cardiomyopathy	GUncertain significance
Select item 3074580	NM_170707.4(LMNA):c.1425T>C (p.Asp475=)	LMNA	Single nucleotide variant (synonymous variant)	Primary dilated cardiomyopathy	GLikely benign
Select item 3074529	NM_170707.4(LMNA):c.1969A>G (p.Ser657Gly)	LMNA (S449G +7 more)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy	GUncertain significance
Select item 3074456	NM_170707.4(LMNA):c.1700G>A (p.Gly567Asp)	LMNA (G359D +6 more)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy	GUncertain significance
Select item 3074437	NM_170707.4(LMNA):c.937-6dup	LMNA (L103fs)	Duplication (frameshift variant +1 more)	Primary dilated cardiomyopathy	GLikely benign
Select item 3074362	NM_170707.4(LMNA):c.943G>A (p.Ala315Thr)	LMNA (A107T +5 more)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy	GUncertain significance
Select item 3074359	NM_170707.4(LMNA):c.1220C>T (p.Ser407Phe)	LMNA (S199F +5 more)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy	GUncertain significance
Select item 3074004	NM_170707.4(LMNA):c.1367A>G (p.Asn456Ser)	LMNA (N248S +5 more)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy	GUncertain significance
Select item 3073956	NM_170707.4(LMNA):c.1387T>C (p.Ser463Pro)	LMNA (S255P +5 more)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy	GUncertain significance
Select item 3073907	NM_170707.4(LMNA):c.1561G>A (p.Gly521Ser)	LMNA (G313S +5 more)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy	GUncertain significance
Select item 3073876	NM_170707.4(LMNA):c.1990A>C (p.Met664Leu)	LMNA (I456L +11 more)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy	GUncertain significance
Select item 3073807	NM_170707.4(LMNA):c.173G>T (p.Gly58Val)	LMNA (G58V)	Single nucleotide variant (missense variant +2 more)	Primary dilated cardiomyopathy	GUncertain significance
Select item 3073604	NM_170707.4(LMNA):c.46G>T (p.Ala16Ser)	LMNA, LOC129931597 (A16S)	Single nucleotide variant (missense variant +2 more)	Primary dilated cardiomyopathy	GUncertain significance
Select item 3073519	NM_170707.4(LMNA):c.839G>A (p.Arg280Lys)	LMNA (G59R +5 more)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy	GUncertain significance
Select item 3073113	NM_170707.4(LMNA):c.1453C>T (p.Pro485Ser)	LMNA (P277S +5 more)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy	GUncertain significance
Select item 3072945	NM_170707.4(LMNA):c.562C>T (p.Leu188=)	LMNA	Single nucleotide variant (synonymous variant +1 more)	Primary dilated cardiomyopathy	GLikely benign
Select item 3072809	NM_170707.4(LMNA):c.908C>T (p.Ser303Phe)	LMNA (S117F +4 more)	Single nucleotide variant (missense variant +1 more)	Primary dilated cardiomyopathy	GUncertain significance
Select item 3072513	NM_170707.4(LMNA):c.1420G>A (p.Gly474Arg)	LMNA (G266R +5 more)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy	GUncertain significance
Select item 3072465	NM_170707.4(LMNA):c.1472C>G (p.Ala491Gly)	LMNA (A283G +5 more)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy	GUncertain significance
Select item 3072386	NM_170707.4(LMNA):c.1419T>A (p.Asn473Lys)	LMNA (N265K +5 more)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy	GUncertain significance
Select item 3072217	NM_170707.4(LMNA):c.189C>T (p.Ile63=)	LMNA	Single nucleotide variant (synonymous variant +2 more)	Primary dilated cardiomyopathy	GLikely benign
Select item 3072146	NM_170707.4(LMNA):c.235G>A (p.Ala79Thr)	LMNA (A79T)	Single nucleotide variant (missense variant +2 more)	Primary dilated cardiomyopathy	GUncertain significance
Select item 3071892	NM_170707.4(LMNA):c.536C>T (p.Ala179Val)	LMNA (A179V +3 more)	Single nucleotide variant (missense variant +1 more)	Primary dilated cardiomyopathy	GUncertain significance
Select item 3071859	NM_170707.4(LMNA):c.320G>A (p.Ser107Asn)	LMNA (S107N)	Single nucleotide variant (missense variant +2 more)	Primary dilated cardiomyopathy	GUncertain significance
Select item 3071835	NM_170707.4(LMNA):c.1184C>G (p.Ser395Trp)	LMNA (S187W +5 more)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy	GUncertain significance
Select item 3071612	NM_170707.4(LMNA):c.946A>G (p.Lys316Glu)	LMNA (K108E +5 more)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy	GUncertain significance
Select item 3071261	NM_170707.4(LMNA):c.58C>T (p.Pro20Ser)	LMNA, LOC129931597 (P20S)	Single nucleotide variant (missense variant +2 more)	Primary dilated cardiomyopathy	GUncertain significance
Select item 3071234	NM_170707.4(LMNA):c.-6C>T	LMNA	Single nucleotide variant (5 prime UTR variant +1 more)	Primary dilated cardiomyopathy	GUncertain significance
Select item 3071113	NM_170707.4(LMNA):c.1520G>A (p.Ser507Asn)	LMNA (S299N +5 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3071027	NM_170707.4(LMNA):c.-11A>G	LMNA	Single nucleotide variant (5 prime UTR variant +1 more)	Primary dilated cardiomyopathy	GUncertain significance
Select item 3070890	NM_170707.4(LMNA):c.306G>A (p.Leu102=)	LMNA	Single nucleotide variant (synonymous variant +2 more)	Primary dilated cardiomyopathy	GLikely benign
Select item 3070790	NM_170707.4(LMNA):c.190A>G (p.Thr64Ala)	LMNA (T64A)	Single nucleotide variant (missense variant +2 more)	Primary dilated cardiomyopathy	GUncertain significance
Select item 3070779	NM_170707.4(LMNA):c.1646T>C (p.Val549Ala)	LMNA (V341A +5 more)	Single nucleotide variant (missense variant +1 more)	Primary dilated cardiomyopathy	GUncertain significance
Select item 3070767	NM_170707.4(LMNA):c.640-7del	LMNA	Deletion (intron variant)	Primary dilated cardiomyopathy	GLikely benign

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