ClinVar for MedGen (Select 393713) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3775892	NM_001103.4(ACTN2):c.428T>C (p.Ile143Thr)	ACTN2 (I143T)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1AA	GUncertain significance
Select item 3763981	NM_001103.4(ACTN2):c.1277A>G (p.Gln426Arg)	ACTN2 (Q426R)	Single nucleotide variant (missense variant +1 more)	Primary familial hypertrophic cardiomyopathy +1 more	GUncertain significance
Select item 3763817	NM_001103.4(ACTN2):c.2605T>G (p.Tyr869Asp)	ACTN2 (Y869D)	Single nucleotide variant (missense variant +1 more)	Primary familial hypertrophic cardiomyopathy +1 more	GUncertain significance
Select item 3763650	NM_001103.4(ACTN2):c.1992C>T (p.Ser664=)	ACTN2	Single nucleotide variant (synonymous variant +1 more)	Primary familial hypertrophic cardiomyopathy +1 more	GLikely benign
Select item 3763637	NM_001103.4(ACTN2):c.2217G>A (p.Glu739=)	ACTN2	Single nucleotide variant (synonymous variant +1 more)	Primary familial hypertrophic cardiomyopathy +1 more	GLikely benign
Select item 3763620	NM_001103.4(ACTN2):c.135T>G (p.Thr45=)	ACTN2	Single nucleotide variant (synonymous variant +1 more)	Primary familial hypertrophic cardiomyopathy +1 more	GLikely benign
Select item 3763479	NM_001103.4(ACTN2):c.2139G>C (p.Thr713=)	ACTN2	Single nucleotide variant (synonymous variant +1 more)	Primary familial hypertrophic cardiomyopathy +1 more	GLikely benign
Select item 3763438	NM_001103.4(ACTN2):c.1108-9C>T	ACTN2	Single nucleotide variant (intron variant)	Primary familial hypertrophic cardiomyopathy +1 more	GLikely benign
Select item 3763344	NM_001103.4(ACTN2):c.2302-19C>T	ACTN2	Single nucleotide variant (intron variant)	Primary familial hypertrophic cardiomyopathy +1 more	GLikely benign
Select item 3763245	NM_001103.4(ACTN2):c.167G>A (p.Gly56Asp)	ACTN2 (G56D)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1AA +2 more	GUncertain significance
Select item 3763189	NM_001103.4(ACTN2):c.1288G>A (p.Glu430Lys)	ACTN2 (E430K)	Single nucleotide variant (missense variant +1 more)	Primary familial hypertrophic cardiomyopathy +1 more	GUncertain significance
Select item 3763143	NM_001103.4(ACTN2):c.817C>G (p.Leu273Val)	ACTN2 (L273V)	Single nucleotide variant (missense variant +1 more)	Primary familial hypertrophic cardiomyopathy +1 more	GUncertain significance
Select item 3762776	NM_001103.4(ACTN2):c.1516-14T>C	ACTN2	Single nucleotide variant (intron variant)	Primary familial hypertrophic cardiomyopathy +1 more	GLikely benign
Select item 3762766	NM_001103.4(ACTN2):c.2430C>T (p.Thr810=)	ACTN2	Single nucleotide variant (synonymous variant +1 more)	Primary familial hypertrophic cardiomyopathy +1 more	GLikely benign
Select item 3762548	NM_001103.4(ACTN2):c.1975-7C>T	ACTN2	Single nucleotide variant (intron variant)	Primary familial hypertrophic cardiomyopathy +1 more	GLikely benign
Select item 3762451	NM_001103.4(ACTN2):c.924T>A (p.Thr308=)	ACTN2	Single nucleotide variant (synonymous variant +1 more)	Primary familial hypertrophic cardiomyopathy +1 more	GLikely benign
Select item 3762337	NM_001103.4(ACTN2):c.689A>G (p.Asp230Gly)	ACTN2 (D230G)	Single nucleotide variant (missense variant +1 more)	Primary familial hypertrophic cardiomyopathy +1 more	GLikely benign
Select item 3762335	NM_001103.4(ACTN2):c.714del (p.Lys239fs)	ACTN2 (K239fs)	Deletion (frameshift variant +2 more)	Primary familial hypertrophic cardiomyopathy +1 more	GUncertain significance
Select item 3762233	NM_001103.4(ACTN2):c.1975-10C>A	ACTN2	Single nucleotide variant (intron variant)	Primary familial hypertrophic cardiomyopathy +1 more	GLikely benign
Select item 3762201	NM_001103.4(ACTN2):c.784-14A>G	ACTN2	Single nucleotide variant (intron variant)	Primary familial hypertrophic cardiomyopathy +1 more	GLikely benign
Select item 3761568	NM_001103.4(ACTN2):c.536+19del	ACTN2	Deletion (intron variant)	Primary familial hypertrophic cardiomyopathy +1 more	GLikely benign
Select item 3761537	NM_001103.4(ACTN2):c.391C>A (p.Leu131Met)	ACTN2 (L131M)	Single nucleotide variant (missense variant +1 more)	Primary familial hypertrophic cardiomyopathy +1 more	GUncertain significance
Select item 3761519	NM_001103.4(ACTN2):c.2155-11dup	ACTN2	Duplication (intron variant)	Primary familial hypertrophic cardiomyopathy +1 more	GBenign
Select item 3761355	NM_001103.4(ACTN2):c.536+8C>T	ACTN2	Single nucleotide variant (intron variant)	Primary familial hypertrophic cardiomyopathy +1 more	GLikely benign
Select item 3761213	NM_001103.4(ACTN2):c.1844A>G (p.Lys615Arg)	ACTN2 (K615R)	Single nucleotide variant (missense variant +1 more)	Primary familial hypertrophic cardiomyopathy +1 more	GUncertain significance
Select item 3761180	NM_001103.4(ACTN2):c.2578C>G (p.Gln860Glu)	ACTN2 (Q860E)	Single nucleotide variant (missense variant +1 more)	Primary familial hypertrophic cardiomyopathy +1 more	GLikely benign
Select item 3761166	NM_001103.4(ACTN2):c.126+17G>C	ACTN2	Single nucleotide variant (intron variant)	Primary familial hypertrophic cardiomyopathy +1 more	GLikely benign
Select item 3761103	NM_001103.4(ACTN2):c.1255+12G>A	ACTN2	Single nucleotide variant (intron variant)	Primary familial hypertrophic cardiomyopathy +1 more	GLikely benign
Select item 3761017	NM_001103.4(ACTN2):c.571C>T (p.His191Tyr)	ACTN2 (H191Y)	Single nucleotide variant (missense variant +1 more)	Primary familial hypertrophic cardiomyopathy +1 more	GUncertain significance
Select item 3760882	NM_001103.4(ACTN2):c.2435A>C (p.Gln812Pro)	ACTN2 (Q812P)	Single nucleotide variant (missense variant +1 more)	Primary familial hypertrophic cardiomyopathy +1 more	GUncertain significance
Select item 3760781	NM_001103.4(ACTN2):c.656C>T (p.Ala219Val)	ACTN2 (A219V)	Single nucleotide variant (missense variant +1 more)	Primary familial hypertrophic cardiomyopathy +1 more	GUncertain significance
Select item 3760704	NM_001103.4(ACTN2):c.2154+16A>G	ACTN2	Single nucleotide variant (intron variant)	Primary familial hypertrophic cardiomyopathy +1 more	GLikely benign
Select item 3760670	NM_001103.4(ACTN2):c.1256-20T>G	ACTN2	Single nucleotide variant (intron variant)	Primary familial hypertrophic cardiomyopathy +1 more	GLikely benign
Select item 3760630	NM_001103.4(ACTN2):c.2301+5C>T	ACTN2	Single nucleotide variant (intron variant)	Primary familial hypertrophic cardiomyopathy +1 more	GUncertain significance
Select item 3760614	NM_001103.4(ACTN2):c.2368-11C>T	ACTN2	Single nucleotide variant (intron variant)	Primary familial hypertrophic cardiomyopathy +1 more	GLikely benign
Select item 3760585	NM_001103.4(ACTN2):c.2391T>C (p.Ile797=)	ACTN2	Single nucleotide variant (synonymous variant +1 more)	Primary familial hypertrophic cardiomyopathy +1 more	GLikely benign
Select item 3760578	NM_001103.4(ACTN2):c.1876C>A (p.Gln626Lys)	ACTN2 (Q626K)	Single nucleotide variant (missense variant +1 more)	Primary familial hypertrophic cardiomyopathy +1 more	GUncertain significance
Select item 3760522	NM_001103.4(ACTN2):c.1139A>G (p.Gln380Arg)	ACTN2 (Q380R)	Single nucleotide variant (missense variant +1 more)	Primary familial hypertrophic cardiomyopathy +1 more	GUncertain significance
Select item 3760227	NM_001103.4(ACTN2):c.698A>G (p.Asp233Gly)	ACTN2 (D233G)	Single nucleotide variant (missense variant +2 more)	Primary familial hypertrophic cardiomyopathy +1 more	GUncertain significance
Select item 3759999	NM_001103.4(ACTN2):c.697+20T>G	ACTN2	Single nucleotide variant (intron variant)	Primary familial hypertrophic cardiomyopathy +1 more	GLikely benign
Select item 3759836	NM_001103.4(ACTN2):c.1476A>C (p.Arg492=)	ACTN2	Single nucleotide variant (synonymous variant +1 more)	Primary familial hypertrophic cardiomyopathy +1 more	GLikely benign
Select item 3759753	NM_001103.4(ACTN2):c.1764C>T (p.Ser588=)	ACTN2	Single nucleotide variant (synonymous variant +1 more)	Primary familial hypertrophic cardiomyopathy +1 more	GLikely benign
Select item 3759705	NM_001103.4(ACTN2):c.1878G>A (p.Gln626=)	ACTN2	Single nucleotide variant (synonymous variant +1 more)	Primary familial hypertrophic cardiomyopathy +1 more	GLikely benign
Select item 3759601	NM_001103.4(ACTN2):c.448+6A>G	ACTN2	Single nucleotide variant (intron variant)	Primary familial hypertrophic cardiomyopathy +1 more	GUncertain significance
Select item 3759296	NM_001103.4(ACTN2):c.1516-1G>T	ACTN2	Single nucleotide variant (splice acceptor variant)	Dilated cardiomyopathy 1AA +1 more	GUncertain significance
Select item 3759291	NM_001103.4(ACTN2):c.1255+20A>G	ACTN2	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1AA +1 more	GLikely benign
Select item 3758835	NM_001103.4(ACTN2):c.159G>A (p.Arg53=)	ACTN2	Single nucleotide variant (synonymous variant +1 more)	Dilated cardiomyopathy 1AA +1 more	GLikely benign
Select item 3758758	NM_001103.4(ACTN2):c.1107+16C>G	ACTN2	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1AA +1 more	GLikely benign
Select item 3758617	NM_001103.4(ACTN2):c.927C>G (p.Pro309=)	ACTN2	Single nucleotide variant (synonymous variant +1 more)	Dilated cardiomyopathy 1AA +1 more	GLikely benign
Select item 3758575	NM_001103.4(ACTN2):c.537-12A>G	ACTN2	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1AA +1 more	GLikely benign
Select item 3758486	NM_001103.4(ACTN2):c.1943C>A (p.Ala648Asp)	ACTN2 (A648D)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1AA +1 more	GUncertain significance
Select item 3758466	NM_001103.4(ACTN2):c.544G>T (p.Asp182Tyr)	ACTN2 (D182Y)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1AA +1 more	GUncertain significance
Select item 3758294	NM_001103.4(ACTN2):c.1460G>C (p.Cys487Ser)	ACTN2 (C487S)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1AA +1 more	GUncertain significance
Select item 3758250	NM_001103.4(ACTN2):c.349A>G (p.Ile117Val)	ACTN2 (I117V)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1AA +1 more	GUncertain significance
Select item 3758181	NM_001103.4(ACTN2):c.598T>G (p.Tyr200Asp)	ACTN2 (Y200D)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1AA +1 more	GUncertain significance
Select item 3758059	NM_001103.4(ACTN2):c.877-14T>C	ACTN2	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1AA +1 more	GLikely benign
Select item 3757831	NM_001103.4(ACTN2):c.2264_2265del (p.Met755fs)	ACTN2 (M755fs)	Deletion (frameshift variant +1 more)	Dilated cardiomyopathy 1AA +1 more	GUncertain significance
Select item 3757706	NM_001103.4(ACTN2):c.1869dup (p.Ser624fs)	ACTN2 (S624fs)	Duplication (frameshift variant +1 more)	Dilated cardiomyopathy 1AA +1 more	GUncertain significance
Select item 3757705	NM_001103.4(ACTN2):c.317A>C (p.Tyr106Ser)	ACTN2 (Y106S)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1AA +1 more	GUncertain significance
Select item 3757554	NM_001103.4(ACTN2):c.2494A>T (p.Ile832Phe)	ACTN2 (I832F)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1AA +1 more	GUncertain significance
Select item 3757448	NM_001103.4(ACTN2):c.1217del (p.Phe406fs)	ACTN2 (F406fs)	Deletion (frameshift variant +1 more)	Dilated cardiomyopathy 1AA +1 more	GUncertain significance
Select item 3757008	NM_001103.4(ACTN2):c.824T>C (p.Val275Ala)	ACTN2 (V275A)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1AA +1 more	GUncertain significance
Select item 3756957	NM_001103.4(ACTN2):c.324C>T (p.Ala108=)	ACTN2	Single nucleotide variant (synonymous variant +1 more)	Dilated cardiomyopathy 1AA +1 more	GLikely benign
Select item 3756797	NM_001103.4(ACTN2):c.1515G>A (p.Glu505=)	ACTN2	Single nucleotide variant (synonymous variant +1 more)	Dilated cardiomyopathy 1AA +1 more	GUncertain significance
Select item 3756687	NM_001103.4(ACTN2):c.1515+18C>G	ACTN2	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1AA +1 more	GLikely benign
Select item 3756485	NM_001103.4(ACTN2):c.2286C>T (p.Phe762=)	ACTN2	Single nucleotide variant (synonymous variant +1 more)	Dilated cardiomyopathy 1AA +1 more	GUncertain significance
Select item 3756407	NM_001103.4(ACTN2):c.1865A>G (p.Asp622Gly)	ACTN2 (D622G)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1AA +1 more	GUncertain significance
Select item 3756164	NM_001103.4(ACTN2):c.2569G>A (p.Asp857Asn)	ACTN2 (D857N)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1AA +1 more	GUncertain significance
Select item 3755983	NM_001103.4(ACTN2):c.265C>A (p.Arg89=)	ACTN2	Single nucleotide variant (synonymous variant +1 more)	Dilated cardiomyopathy 1AA +1 more	GLikely benign
Select item 3755781	NM_001103.4(ACTN2):c.616G>C (p.Asp206His)	ACTN2 (D206H)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1AA +1 more	GUncertain significance
Select item 3755446	NM_001103.4(ACTN2):c.2049C>T (p.His683=)	ACTN2	Single nucleotide variant (synonymous variant +1 more)	Dilated cardiomyopathy 1AA +1 more	GLikely benign
Select item 3755345	NM_001103.4(ACTN2):c.2042A>C (p.Tyr681Ser)	ACTN2 (Y681S)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1AA +1 more	GUncertain significance
Select item 3755321	NM_001103.4(ACTN2):c.1872C>A (p.Ser624=)	ACTN2	Single nucleotide variant (synonymous variant +1 more)	Dilated cardiomyopathy 1AA +1 more	GLikely benign
Select item 3755157	NM_001103.4(ACTN2):c.1108-9C>G	ACTN2	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1AA +1 more	GUncertain significance
Select item 3755057	NM_001103.4(ACTN2):c.536+18del	ACTN2	Deletion (intron variant)	Dilated cardiomyopathy 1AA +1 more	GBenign
Select item 3754931	NM_001103.4(ACTN2):c.249G>T (p.Arg83Ser)	ACTN2 (R83S)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1AA +1 more	GUncertain significance
Select item 3754684	NM_001103.4(ACTN2):c.1187T>C (p.Leu396Pro)	ACTN2 (L396P)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1AA +1 more	GUncertain significance
Select item 3754421	NM_001103.4(ACTN2):c.1548G>A (p.Gln516=)	ACTN2	Single nucleotide variant (synonymous variant +1 more)	Dilated cardiomyopathy 1AA +1 more	GLikely benign
Select item 3753590	NM_001103.4(ACTN2):c.2339C>T (p.Ala780Val)	ACTN2 (A780V)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1AA +1 more	GUncertain significance
Select item 3753379	NM_001103.4(ACTN2):c.1686G>A (p.Lys562=)	ACTN2	Single nucleotide variant (synonymous variant +1 more)	Dilated cardiomyopathy 1AA +1 more	GLikely benign
Select item 3753218	NM_001103.4(ACTN2):c.2302-10T>C	ACTN2	Single nucleotide variant (intron variant)	Primary familial hypertrophic cardiomyopathy +1 more	GLikely benign
Select item 3753174	NM_001103.4(ACTN2):c.1115C>T (p.Ala372Val)	ACTN2 (A372V)	Single nucleotide variant (missense variant +1 more)	Primary familial hypertrophic cardiomyopathy +1 more	GUncertain significance
Select item 3752799	NM_001103.4(ACTN2):c.2302-7C>T	ACTN2	Single nucleotide variant (intron variant)	Primary familial hypertrophic cardiomyopathy +1 more	GLikely benign
Select item 3752597	NM_001103.4(ACTN2):c.1320G>A (p.Leu440=)	ACTN2	Single nucleotide variant (synonymous variant +1 more)	Primary familial hypertrophic cardiomyopathy +1 more	GLikely benign
Select item 3752501	NM_001103.4(ACTN2):c.876+13G>A	ACTN2	Single nucleotide variant (intron variant)	Primary familial hypertrophic cardiomyopathy +1 more	GLikely benign
Select item 3751823	NM_001103.4(ACTN2):c.1108-20T>A	ACTN2	Single nucleotide variant (intron variant)	Primary familial hypertrophic cardiomyopathy +1 more	GLikely benign
Select item 3751778	NM_001103.4(ACTN2):c.1107+20C>T	ACTN2	Single nucleotide variant (intron variant)	Primary familial hypertrophic cardiomyopathy +1 more	GLikely benign
Select item 3751623	NM_001103.4(ACTN2):c.2067G>T (p.Lys689Asn)	ACTN2 (K689N)	Single nucleotide variant (missense variant +1 more)	Primary familial hypertrophic cardiomyopathy +1 more	GUncertain significance
Select item 3751556	NM_001103.4(ACTN2):c.1002G>A (p.Lys334=)	ACTN2	Single nucleotide variant (synonymous variant +1 more)	Primary familial hypertrophic cardiomyopathy +1 more	GLikely benign
Select item 3751503	NM_001103.4(ACTN2):c.741G>C (p.Thr247=)	ACTN2	Single nucleotide variant (synonymous variant +2 more)	Primary familial hypertrophic cardiomyopathy +1 more	GLikely benign
Select item 3751486	NM_001103.4(ACTN2):c.1884G>A (p.Glu628=)	ACTN2	Single nucleotide variant (synonymous variant +1 more)	Primary familial hypertrophic cardiomyopathy +1 more	GLikely benign
Select item 3751482	NM_001103.4(ACTN2):c.1840-3C>T	ACTN2	Single nucleotide variant (intron variant)	Primary familial hypertrophic cardiomyopathy +1 more	GUncertain significance
Select item 3751348	NM_001103.4(ACTN2):c.877-8C>T	ACTN2	Single nucleotide variant (intron variant)	Primary familial hypertrophic cardiomyopathy +1 more	GLikely benign
Select item 3751274	NM_001103.4(ACTN2):c.1336G>A (p.Ala446Thr)	ACTN2 (A446T)	Single nucleotide variant (missense variant +1 more)	Primary familial hypertrophic cardiomyopathy +1 more	GUncertain significance
Select item 3751191	NM_001103.4(ACTN2):c.2014G>A (p.Glu672Lys)	ACTN2 (E672K)	Single nucleotide variant (missense variant +1 more)	Primary familial hypertrophic cardiomyopathy +1 more	GUncertain significance
Select item 3751183	NM_001103.4(ACTN2):c.2169A>G (p.Gly723=)	ACTN2	Single nucleotide variant (synonymous variant +1 more)	Primary familial hypertrophic cardiomyopathy +1 more	GLikely benign
Select item 3751102	NM_001103.4(ACTN2):c.1680G>A (p.Gln560=)	ACTN2	Single nucleotide variant (synonymous variant +1 more)	Primary familial hypertrophic cardiomyopathy +1 more	GLikely benign
Select item 3751066	NM_001103.4(ACTN2):c.448+20G>C	ACTN2	Single nucleotide variant (intron variant)	Primary familial hypertrophic cardiomyopathy +1 more	GLikely benign
Select item 3751057	NM_001103.4(ACTN2):c.1490C>T (p.Thr497Ile)	ACTN2 (T497I)	Single nucleotide variant (missense variant +1 more)	Primary familial hypertrophic cardiomyopathy +1 more	GUncertain significance
Select item 3750856	NM_001103.4(ACTN2):c.594T>C (p.Ile198=)	ACTN2	Single nucleotide variant (synonymous variant +1 more)	Primary familial hypertrophic cardiomyopathy +1 more	GLikely benign

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