ClinVar for Gene (Select 88) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3371038	NM_001103.4(ACTN2):c.2191A>G (p.Ile731Val)	ACTN2 (I731V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3371010	NM_001103.4(ACTN2):c.2298_2299dup (p.Arg767fs)	ACTN2 (R767fs)	Duplication (frameshift variant +1 more)	not provided	GUncertain significance
Select item 3366681	NM_001103.4(ACTN2):c.2548C>G (p.Leu850Val)	ACTN2 (L850V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3363601	NM_001103.4(ACTN2):c.276G>A (p.Met92Ile)	ACTN2 (M92I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3362680	NM_001103.4(ACTN2):c.1392C>G (p.Ile464Met)	ACTN2 (I464M)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1AA	GUncertain significance
Select item 3361002	NM_001103.4(ACTN2):c.2089G>A (p.Gly697Arg)	ACTN2 (G697R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3355601	NM_001103.4(ACTN2):c.88C>T (p.Leu30=)	ACTN2	Single nucleotide variant (synonymous variant +1 more)	ACTN2-related disorder	GLikely benign
Select item 3348884	NM_001103.4(ACTN2):c.883G>T (p.Glu295Ter)	ACTN2 (E295*)	Single nucleotide variant (nonsense +1 more)	ACTN2-related disorder	GUncertain significance
Select item 3345229	NM_001103.4(ACTN2):c.2455A>T (p.Thr819Ser)	ACTN2 (T819S)	Single nucleotide variant (missense variant +1 more)	ACTN2-related disorder	GUncertain significance
Select item 3344803	NM_001103.4(ACTN2):c.1719G>C (p.Gln573His)	ACTN2 (Q573H)	Single nucleotide variant (missense variant +1 more)	ACTN2-related disorder	GUncertain significance
Select item 3342711	NM_001103.4(ACTN2):c.2571T>A (p.Asp857Glu)	ACTN2 (D857E)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3338236	NM_001103.4(ACTN2):c.1053G>C (p.Lys351Asn)	ACTN2 (K351N)	Single nucleotide variant (missense variant +1 more)	Myopathy, congenital, with structured cores and z-line abnormalities	GBenign
Select item 3264398	NM_001103.4(ACTN2):c.58A>C (p.Met20Leu)	ACTN2 (M20L)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 3264389	NM_001103.4(ACTN2):c.760C>T (p.His254Tyr)	ACTN2 (H254Y)	Single nucleotide variant (missense variant +2 more)	Cardiovascular phenotype	GUncertain significance
Select item 3264360	NM_001103.4(ACTN2):c.1101G>A (p.Met367Ile)	ACTN2 (M367I)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 3264353	NM_001103.4(ACTN2):c.145A>C (p.Asn49His)	ACTN2 (N49H)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 3264307	NM_001103.4(ACTN2):c.332G>C (p.Gly111Ala)	ACTN2 (G111A)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 3264300	NM_001103.4(ACTN2):c.1403T>A (p.Leu468His)	ACTN2 (L468H)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 3264290	NM_001103.4(ACTN2):c.1140G>A (p.Gln380=)	ACTN2	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 3264243	NM_001103.4(ACTN2):c.397A>G (p.Met133Val)	ACTN2 (M133V)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 3264222	NM_001103.4(ACTN2):c.1281G>A (p.Lys427=)	ACTN2	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 3254579	NM_001103.4(ACTN2):c.1622A>G (p.Asp541Gly)	ACTN2 (D541G)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1AA	GUncertain significance
Select item 3254576	NM_001103.4(ACTN2):c.1378C>T (p.Gln460Ter)	ACTN2 (Q460*)	Single nucleotide variant (nonsense +1 more)	Dilated cardiomyopathy 1AA	GLikely pathogenic
Select item 3248035	NC_000001.10:g.(?_234338304)_(237995947_?)dup	ACTN2, ARID4B +21 more	Duplication	not provided	GUncertain significance
Select item 3247731	NC_000001.10:g.(?_236902582)_(237995947_?)dup	ACTN2, MT1HL1 +2 more	Duplication	Catecholaminergic polymorphic ventricular tachycardia 1	GUncertain significance
Select item 3247725	NC_000001.10:g.(?_236902582)_(237944966_?)del	ACTN2, MT1HL1 +2 more	Deletion	Catecholaminergic polymorphic ventricular tachycardia 1	GUncertain significance
Select item 3247717	NC_000001.10:g.(?_236849974)_(237205889_?)dup	ACTN2, MT1HL1 +2 more	Duplication	Catecholaminergic polymorphic ventricular tachycardia 1 +2 more	GUncertain significance
Select item 3247621	NC_000001.10:g.(?_235275379)_(236899040_?)del	ACTN2, ARID4B +13 more	Deletion	Chédiak-Higashi syndrome	GPathogenic
Select item 3239568	NM_001103.4(ACTN2):c.62T>C (p.Ile21Thr)	ACTN2 (I21T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3236196	NM_001103.4(ACTN2):c.452C>T (p.Thr151Ile)	ACTN2 (T151I)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1AA	GUncertain significance
Select item 3232709	NM_001103.4(ACTN2):c.950A>C (p.Gln317Pro)	ACTN2 (Q109P +2 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 3232708	NM_001103.4(ACTN2):c.920G>T (p.Arg307Leu)	ACTN2 (R307L +2 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 3232707	NM_001103.4(ACTN2):c.834G>C (p.Glu278Asp)	ACTN2 (E278D +2 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 3232706	NM_001103.4(ACTN2):c.551T>G (p.Leu184Arg)	ACTN2 (L184R)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 3232705	NM_001103.4(ACTN2):c.363A>C (p.Glu121Asp)	ACTN2 (E121D)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 3232704	NM_001103.4(ACTN2):c.1372G>T (p.Val458Leu)	ACTN2 (V208L +2 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 3232703	NM_001103.4(ACTN2):c.1174G>A (p.Glu392Lys)	ACTN2 (E142K +2 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 3232702	NM_001103.4(ACTN2):c.1086C>T (p.Pro362=)	ACTN2	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 3141858	NM_001103.4(ACTN2):c.2234G>C (p.Arg745Thr)	ACTN2 (R495T +2 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 3068664	NM_001103.4(ACTN2):c.239C>G (p.Ser80Ter)	ACTN2 (S80*)	Single nucleotide variant (nonsense +1 more)	Intrinsic cardiomyopathy	GLikely pathogenic
Select item 3063804	NM_001103.4(ACTN2):c.2331T>G (p.Asp777Glu)	ACTN2 (D527E +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3063443	GRCh37/hg19 1q42.2-43(chr1:233813555-240578304)x1	ACTN2, ARID4B +24 more	Copy number loss	not specified	GPathogenic
Select item 3063299	GRCh37/hg19 1q42.3-43(chr1:236221501-237380903)x3	ACTN2, EDARADD +8 more	Copy number gain	not specified	GUncertain significance
Select item 3061313	NM_001103.4(ACTN2):c.361+2del	ACTN2	Deletion (splice donor variant)	ACTN2-related disorder	GUncertain significance
Select item 3031455	NM_001103.4(ACTN2):c.784-522C>T	ACTN2	Single nucleotide variant (non-coding transcript variant +1 more)	ACTN2-related disorder	GLikely benign
Select item 3029908	NM_001103.4(ACTN2):c.2141A>T (p.Asn714Ile)	ACTN2 (N464I +2 more)	Single nucleotide variant (missense variant +1 more)	ACTN2-related disorder	GUncertain significance
Select item 2954474	NM_001103.4(ACTN2):c.1607T>C (p.Met536Thr)	ACTN2 (M328T +2 more)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1AA +1 more	GUncertain significance
Select item 2954244	NM_001103.4(ACTN2):c.2302-9T>C	ACTN2	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1AA +1 more	GLikely benign
Select item 2954146	NM_001103.4(ACTN2):c.2368-3C>A	ACTN2	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1AA +1 more	GUncertain significance
Select item 2953984	NM_001103.4(ACTN2):c.1609G>T (p.Glu537Ter)	ACTN2 (E329* +2 more)	Single nucleotide variant (nonsense +1 more)	Dilated cardiomyopathy 1AA +1 more	GUncertain significance
Select item 2953889	NM_001103.4(ACTN2):c.1834G>A (p.Asp612Asn)	ACTN2 (D362N +2 more)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1AA +1 more	GUncertain significance
Select item 2952808	NM_001103.4(ACTN2):c.876+11C>T	ACTN2	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1AA +1 more	GLikely benign
Select item 2951798	NM_001103.4(ACTN2):c.876+14_876+21dup	ACTN2	Duplication (intron variant)	Dilated cardiomyopathy 1AA +1 more	GLikely benign
Select item 2951714	NM_001103.4(ACTN2):c.2352C>T (p.Ser784=)	ACTN2	Single nucleotide variant (synonymous variant +1 more)	Dilated cardiomyopathy 1AA +1 more	GLikely benign
Select item 2951699	NM_001103.4(ACTN2):c.362-5T>C	ACTN2	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1AA +1 more	GLikely benign
Select item 2951495	NM_001103.4(ACTN2):c.764C>T (p.Ala255Val)	ACTN2 (A10V +1 more)	Single nucleotide variant (missense variant +2 more)	Primary familial hypertrophic cardiomyopathy +1 more	GUncertain significance
Select item 2951406	NM_001103.4(ACTN2):c.537-11C>G	ACTN2	Single nucleotide variant (intron variant)	Primary familial hypertrophic cardiomyopathy +1 more	GUncertain significance
Select item 2951357	NM_001103.4(ACTN2):c.1198G>A (p.Glu400Lys)	ACTN2 (E150K +2 more)	Single nucleotide variant (missense variant +1 more)	Primary familial hypertrophic cardiomyopathy +1 more	GUncertain significance
Select item 2951019	NM_001103.4(ACTN2):c.569T>G (p.Ile190Ser)	ACTN2 (I190S)	Single nucleotide variant (missense variant +1 more)	Primary familial hypertrophic cardiomyopathy +1 more	GUncertain significance
Select item 2950916	NM_001103.4(ACTN2):c.2301G>C (p.Arg767Ser)	ACTN2 (R559S +2 more)	Single nucleotide variant (missense variant +1 more)	Primary familial hypertrophic cardiomyopathy +1 more	GUncertain significance
Select item 2950759	NM_001103.4(ACTN2):c.1735C>T (p.Gln579Ter)	ACTN2 (Q371* +2 more)	Single nucleotide variant (nonsense +1 more)	Primary familial hypertrophic cardiomyopathy +1 more	GUncertain significance
Select item 2950752	NM_001103.4(ACTN2):c.1989C>G (p.Ser663Arg)	ACTN2 (S663R +2 more)	Single nucleotide variant (missense variant +1 more)	Primary familial hypertrophic cardiomyopathy +1 more	GUncertain significance
Select item 2950387	NM_001103.4(ACTN2):c.1107+5G>A	ACTN2	Single nucleotide variant (intron variant)	Primary familial hypertrophic cardiomyopathy +1 more	GUncertain significance
Select item 2950213	NM_001103.4(ACTN2):c.1421A>G (p.His474Arg)	ACTN2 (H266R +2 more)	Single nucleotide variant (missense variant +1 more)	Primary familial hypertrophic cardiomyopathy +1 more	GUncertain significance
Select item 2950061	NM_001103.4(ACTN2):c.303C>A (p.Asn101Lys)	ACTN2 (N101K)	Single nucleotide variant (missense variant +1 more)	Primary familial hypertrophic cardiomyopathy +1 more	GUncertain significance
Select item 2949730	NM_001103.4(ACTN2):c.2170T>C (p.Trp724Arg)	ACTN2 (W516R +2 more)	Single nucleotide variant (missense variant +1 more)	Primary familial hypertrophic cardiomyopathy +1 more	GUncertain significance
Select item 2949660	NM_001103.4(ACTN2):c.1841T>C (p.Val614Ala)	ACTN2 (V406A +2 more)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1AA +2 more	GUncertain significance
Select item 2949521	NM_001103.4(ACTN2):c.2488C>A (p.Gln830Lys)	ACTN2 (Q580K +2 more)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1AA +1 more	GUncertain significance
Select item 2949347	NM_001103.4(ACTN2):c.1656+3A>G	ACTN2	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1AA +1 more	GUncertain significance
Select item 2949307	NM_001103.4(ACTN2):c.536+17C>T	ACTN2	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1AA +1 more	GLikely benign
Select item 2949182	NM_001103.4(ACTN2):c.537-6G>A	ACTN2	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1AA +1 more	GLikely benign
Select item 2948609	NM_001103.4(ACTN2):c.242-9A>G	ACTN2	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1AA +1 more	GLikely benign
Select item 2948421	NM_001103.4(ACTN2):c.1407-15T>G	ACTN2	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1AA +1 more	GLikely benign
Select item 2948185	NM_001103.4(ACTN2):c.49dup (p.Asp17fs)	ACTN2 (D17fs)	Duplication (frameshift variant +1 more)	Dilated cardiomyopathy 1AA +1 more	GUncertain significance
Select item 2947864	NM_001103.4(ACTN2):c.143_144del (p.Trp47_Cys48insTer)	ACTN2	Microsatellite (nonsense +1 more)	Dilated cardiomyopathy 1AA +1 more	GUncertain significance
Select item 2947863	NM_001103.4(ACTN2):c.778G>T (p.Glu260Ter)	ACTN2 (E15* +1 more)	Single nucleotide variant (nonsense +2 more)	Dilated cardiomyopathy 1AA +1 more	GUncertain significance
Select item 2947844	NM_001103.4(ACTN2):c.784-524del	ACTN2	Deletion (frameshift variant +2 more)	Dilated cardiomyopathy 1AA +1 more	GBenign
Select item 2947723	NM_001103.4(ACTN2):c.2463G>A (p.Glu821=)	ACTN2	Single nucleotide variant (synonymous variant +1 more)	Dilated cardiomyopathy 1AA +1 more	GLikely benign
Select item 2947461	NM_001103.4(ACTN2):c.1836C>T (p.Asp612=)	ACTN2	Single nucleotide variant (synonymous variant +1 more)	Primary familial hypertrophic cardiomyopathy +1 more	GLikely benign
Select item 2947295	NM_001103.4(ACTN2):c.2223G>C (p.Gln741His)	ACTN2 (Q741H +2 more)	Single nucleotide variant (missense variant +1 more)	Primary familial hypertrophic cardiomyopathy +1 more	GUncertain significance
Select item 2947252	NM_001103.4(ACTN2):c.646A>T (p.Met216Leu)	ACTN2 (M216L)	Single nucleotide variant (missense variant +1 more)	Primary familial hypertrophic cardiomyopathy +1 more	GUncertain significance
Select item 2947226	NM_001103.4(ACTN2):c.1974G>A (p.Glu658=)	ACTN2	Single nucleotide variant (synonymous variant +1 more)	Primary familial hypertrophic cardiomyopathy +1 more	GUncertain significance
Select item 2947032	NM_001103.4(ACTN2):c.2133G>C (p.Lys711Asn)	ACTN2 (K711N +2 more)	Single nucleotide variant (missense variant +1 more)	Primary familial hypertrophic cardiomyopathy +1 more	GUncertain significance
Select item 2946780	NM_001103.4(ACTN2):c.2154+16A>C	ACTN2	Single nucleotide variant (intron variant)	Primary familial hypertrophic cardiomyopathy +1 more	GLikely benign
Select item 2946732	NM_001103.4(ACTN2):c.1304C>T (p.Thr435Ile)	ACTN2 (T227I +2 more)	Single nucleotide variant (missense variant +1 more)	Primary familial hypertrophic cardiomyopathy +1 more	GUncertain significance
Select item 2946553	NM_001103.4(ACTN2):c.103G>A (p.Ala35Thr)	ACTN2 (A35T)	Single nucleotide variant (missense variant +1 more)	Primary familial hypertrophic cardiomyopathy +1 more	GUncertain significance
Select item 2946257	NM_001103.4(ACTN2):c.1602C>T (p.Gly534=)	ACTN2	Single nucleotide variant (synonymous variant +1 more)	Primary familial hypertrophic cardiomyopathy +2 more	GLikely benign
Select item 2946048	NM_001103.4(ACTN2):c.1630A>G (p.Ile544Val)	ACTN2 (I294V +2 more)	Single nucleotide variant (missense variant +1 more)	Primary familial hypertrophic cardiomyopathy +2 more	GUncertain significance
Select item 2945957	NM_001103.4(ACTN2):c.1826C>T (p.Thr609Ile)	ACTN2 (T401I +2 more)	Single nucleotide variant (missense variant +1 more)	Primary familial hypertrophic cardiomyopathy +1 more	GUncertain significance
Select item 2945884	NM_001103.4(ACTN2):c.1757T>C (p.Ile586Thr)	ACTN2 (I378T +2 more)	Single nucleotide variant (missense variant +1 more)	Primary familial hypertrophic cardiomyopathy +1 more	GUncertain significance
Select item 2945805	NM_001103.4(ACTN2):c.1839+18T>C	ACTN2	Single nucleotide variant (intron variant)	Primary familial hypertrophic cardiomyopathy +1 more	GLikely benign
Select item 2944747	NM_001103.4(ACTN2):c.2336G>C (p.Arg779Thr)	ACTN2 (R529T +2 more)	Single nucleotide variant (missense variant +1 more)	Primary familial hypertrophic cardiomyopathy +1 more	GUncertain significance
Select item 2944434	NM_001103.4(ACTN2):c.425C>T (p.Ala142Val)	ACTN2 (A142V)	Single nucleotide variant (missense variant +1 more)	Primary familial hypertrophic cardiomyopathy +2 more	GUncertain significance
Select item 2944339	NM_001103.4(ACTN2):c.1901C>T (p.Ala634Val)	ACTN2 (A384V +2 more)	Single nucleotide variant (missense variant +1 more)	Primary familial hypertrophic cardiomyopathy +1 more	GUncertain significance
Select item 2944150	NM_001103.4(ACTN2):c.1651A>G (p.Ile551Val)	ACTN2 (I301V +2 more)	Single nucleotide variant (missense variant +1 more)	Primary familial hypertrophic cardiomyopathy +1 more	GUncertain significance
Select item 2943968	NM_001103.4(ACTN2):c.959T>C (p.Leu320Pro)	ACTN2 (L320P +2 more)	Single nucleotide variant (missense variant +1 more)	Primary familial hypertrophic cardiomyopathy +1 more	GUncertain significance
Select item 2943841	NM_001103.4(ACTN2):c.783+18G>A	ACTN2	Single nucleotide variant (intron variant)	Primary familial hypertrophic cardiomyopathy +1 more	GLikely benign
Select item 2943445	NM_001103.4(ACTN2):c.935C>T (p.Thr312Ile)	ACTN2 (T104I +2 more)	Single nucleotide variant (missense variant +1 more)	Primary familial hypertrophic cardiomyopathy +1 more	GUncertain significance
Select item 2943101	NM_001103.4(ACTN2):c.320T>C (p.Ile107Thr)	ACTN2 (I107T)	Single nucleotide variant (missense variant +1 more)	Primary familial hypertrophic cardiomyopathy +1 more	GUncertain significance
Select item 2942871	NM_001103.4(ACTN2):c.329A>T (p.Lys110Ile)	ACTN2 (K110I)	Single nucleotide variant (missense variant +1 more)	Primary familial hypertrophic cardiomyopathy +1 more	GUncertain significance

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