ClinVar for MedGen (Select 2880) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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
Select item 3070634	NM_170707.4(LMNA):c.895A>T (p.Ile299Phe)	LMNA (I113F +4 more)	Single nucleotide variant (missense variant +1 more)	Primary dilated cardiomyopathy	GUncertain significance
Select item 3070593	NM_170707.4(LMNA):c.731C>A (p.Ala244Glu)	LMNA (A132E +5 more)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy	GUncertain significance
Select item 3070555	NM_170707.4(LMNA):c.1158-8C>T	LMNA	Single nucleotide variant (intron variant)	Primary dilated cardiomyopathy	GLikely benign
Select item 3070550	NM_170707.4(LMNA):c.1221C>T (p.Ser407=)	LMNA	Single nucleotide variant (synonymous variant)	Primary dilated cardiomyopathy	GLikely benign
Select item 3070531	NM_170707.4(LMNA):c.777T>C (p.Tyr259=)	LMNA (I38T)	Single nucleotide variant (synonymous variant +1 more)	Primary dilated cardiomyopathy	GLikely benign
Select item 3070529	NM_170707.4(LMNA):c.1435C>T (p.Leu479=)	LMNA	Single nucleotide variant (synonymous variant)	Primary dilated cardiomyopathy	GLikely benign
Select item 3070462	NM_170707.4(LMNA):c.357-9C>A	LMNA, LOC126805877	Single nucleotide variant (intron variant)	Primary dilated cardiomyopathy	GUncertain significance
Select item 3070453	NM_170707.4(LMNA):c.-5C>G	LMNA	Single nucleotide variant (5 prime UTR variant +1 more)	Primary dilated cardiomyopathy	GUncertain significance
Select item 3070376	NM_170707.4(LMNA):c.1531G>C (p.Asp511His)	LMNA (D303H +5 more)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy	GUncertain significance
Select item 3070333	NM_170707.4(LMNA):c.1489-5T>C	LMNA	Single nucleotide variant (intron variant)	Primary dilated cardiomyopathy	GUncertain significance
Select item 3070304	NM_170707.4(LMNA):c.962G>C (p.Arg321Pro)	LMNA (R113P +5 more)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy	GUncertain significance
Select item 3070238	NM_170707.4(LMNA):c.174G>T (p.Gly58=)	LMNA	Single nucleotide variant (synonymous variant +2 more)	Primary dilated cardiomyopathy	GUncertain significance
Select item 3070214	NM_170707.4(LMNA):c.1669G>A (p.Asp557Asn)	LMNA (D349N +5 more)	Single nucleotide variant (missense variant +1 more)	Primary dilated cardiomyopathy	GUncertain significance
Select item 3070207	NM_170707.4(LMNA):c.1376A>T (p.Asn459Ile)	LMNA (N251I +5 more)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy	GUncertain significance
Select item 3070093	NM_170707.4(LMNA):c.1381-15C>T	LMNA	Single nucleotide variant (intron variant)	Primary dilated cardiomyopathy	GLikely benign
Select item 3070010	NM_170707.4(LMNA):c.1030G>A (p.Glu344Lys)	LMNA (E136K +5 more)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy	GUncertain significance
Select item 3069887	NM_170707.4(LMNA):c.273C>A (p.Thr91=)	LMNA	Single nucleotide variant (synonymous variant +2 more)	Primary dilated cardiomyopathy	GLikely benign
Select item 3069667	NM_170707.4(LMNA):c.1903G>A (p.Gly635Ser)	LMNA (G427S +6 more)	Single nucleotide variant (missense variant +1 more)	Primary dilated cardiomyopathy +1 more	GUncertain significance
Select item 3069627	NM_170707.4(LMNA):c.1844C>A (p.Ser615Tyr)	LMNA (S407Y +6 more)	Single nucleotide variant (missense variant +1 more)	Primary dilated cardiomyopathy	GUncertain significance
Select item 3069427	NM_170707.4(LMNA):c.302G>T (p.Arg101Leu)	LMNA (R101L)	Single nucleotide variant (missense variant +2 more)	Primary dilated cardiomyopathy	GUncertain significance
Select item 3069270	NM_170707.4(LMNA):c.536C>G (p.Ala179Gly)	LMNA (A179G +3 more)	Single nucleotide variant (missense variant +1 more)	Primary dilated cardiomyopathy	GUncertain significance
Select item 3068692	NM_001267550.2(TTN):c.52848del (p.Trp17616fs)	LOC126806425, TTN +1 more (W15048fs +5 more)	Deletion (frameshift variant)	Primary dilated cardiomyopathy	GLikely pathogenic
Select item 3068670	NM_001267550.2(TTN):c.9432C>T (p.Gly3144=)	TTN	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 3068659	NM_001267550.2(TTN):c.60407_60410dup (p.Ile20138fs)	TTN, TTN-AS1 (I11073fs +5 more)	Duplication (frameshift variant)	Primary dilated cardiomyopathy	GLikely pathogenic
Select item 3068650	NM_001134363.3(RBM20):c.122T>A (p.Met41Lys)	RBM20 (M41K)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy	GUncertain significance
Select item 3068627	NM_170707.4(LMNA):c.174del (p.Leu59fs)	LMNA (L59fs)	Deletion (frameshift variant +2 more)	Primary dilated cardiomyopathy	GPathogenic

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