ClinVar for Gene (Select 58) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3068434	NM_001100.4(ACTA1):c.79G>A (p.Asp27Asn)	ACTA1 (D27N)	Single nucleotide variant (missense variant)	Actin accumulation myopathy	GPathogenic
Select item 3065810	NM_001100.4(ACTA1):c.769T>C (p.Phe257Leu)	ACTA1 (F257L)	Single nucleotide variant (missense variant)	Actin accumulation myopathy	GLikely pathogenic
Select item 3062877	GRCh37/hg19 1q42.13(chr1:228215364-229747702)x1	CCSAP, ABCB10 +21 more	Copy number loss	not specified	GPathogenic
Select item 3049360	NM_001100.4(ACTA1):c.457A>C (p.Ile153Leu)	ACTA1 (I153L)	Single nucleotide variant (missense variant)	ACTA1-related disorder	GUncertain significance
Select item 3031561	NM_001100.4(ACTA1):c.991-10T>C	ACTA1	Single nucleotide variant (intron variant)	ACTA1-related disorder	GLikely benign
Select item 3029646	NM_001100.4(ACTA1):c.390C>T (p.Asn130=)	ACTA1	Single nucleotide variant (synonymous variant)	ACTA1-related disorder	GLikely benign
Select item 3013789	NM_001100.4(ACTA1):c.102G>A (p.Pro34=)	ACTA1	Single nucleotide variant (synonymous variant)	Actin accumulation myopathy	GLikely benign
Select item 3012057	NM_001100.4(ACTA1):c.651G>A (p.Lys217=)	ACTA1	Single nucleotide variant (synonymous variant)	Actin accumulation myopathy	GLikely benign
Select item 2989244	NM_001100.4(ACTA1):c.709T>C (p.Ser237Pro)	ACTA1 (S237P)	Single nucleotide variant (missense variant)	Actin accumulation myopathy	GUncertain significance
Select item 2966924	NM_001100.4(ACTA1):c.616+13C>T	ACTA1	Single nucleotide variant (intron variant)	Actin accumulation myopathy	GLikely benign
Select item 2919773	NM_001100.4(ACTA1):c.63C>T (p.Ala21=)	ACTA1	Single nucleotide variant (synonymous variant)	Actin accumulation myopathy	GLikely benign
Select item 2914682	NM_001100.4(ACTA1):c.129+4A>T	ACTA1	Single nucleotide variant (intron variant)	Actin accumulation myopathy	GUncertain significance
Select item 2904988	NM_001100.4(ACTA1):c.809-16_809-15insA	ACTA1	Insertion (intron variant)	Actin accumulation myopathy	GLikely benign
Select item 2900833	NM_001100.4(ACTA1):c.809-19T>A	ACTA1	Single nucleotide variant (intron variant)	Actin accumulation myopathy	GLikely benign
Select item 2886337	NM_001100.4(ACTA1):c.331_348del (p.Pro111_Ala116del)	ACTA1	Deletion (inframe_deletion)	Actin accumulation myopathy	GUncertain significance
Select item 2884605	NM_001100.4(ACTA1):c.300C>T (p.Pro100=)	ACTA1	Single nucleotide variant (synonymous variant)	Actin accumulation myopathy	GLikely benign
Select item 2866347	NM_001100.4(ACTA1):c.48C>T (p.Ser16=)	ACTA1	Single nucleotide variant (synonymous variant)	Actin accumulation myopathy	GLikely benign
Select item 2860475	NM_001100.4(ACTA1):c.1015T>A (p.Tyr339Asn)	ACTA1 (Y339N)	Single nucleotide variant (missense variant)	Actin accumulation myopathy	GUncertain significance
Select item 2849834	NM_001100.4(ACTA1):c.620A>T (p.Glu207Val)	ACTA1 (E207V)	Single nucleotide variant (missense variant)	Actin accumulation myopathy	GPathogenic
Select item 2847225	NM_001100.4(ACTA1):c.1018T>G (p.Ser340Ala)	ACTA1 (S340A)	Single nucleotide variant (missense variant)	Actin accumulation myopathy	GUncertain significance
Select item 2843270	NM_001100.4(ACTA1):c.809-18_809-17insG	ACTA1	Insertion (intron variant)	Actin accumulation myopathy	GLikely benign
Select item 2837911	NM_001100.4(ACTA1):c.809-3del	ACTA1	Deletion (intron variant)	Actin accumulation myopathy	GBenign
Select item 2832183	NM_001100.4(ACTA1):c.1006del (p.Glu336fs)	ACTA1 (E336fs)	Deletion (frameshift variant)	Actin accumulation myopathy	GPathogenic
Select item 2822508	NM_001100.4(ACTA1):c.370A>G (p.Ile124Val)	ACTA1 (I124V)	Single nucleotide variant (missense variant)	Actin accumulation myopathy	GUncertain significance
Select item 2819676	NM_001100.4(ACTA1):c.1033G>A (p.Gly345Ser)	ACTA1 (G345S)	Single nucleotide variant (missense variant)	Actin accumulation myopathy	GUncertain significance
Select item 2805603	NM_001100.4(ACTA1):c.727G>C (p.Glu243Gln)	ACTA1 (E243Q)	Single nucleotide variant (missense variant)	Actin accumulation myopathy	GUncertain significance
Select item 2798548	NM_001100.4(ACTA1):c.306G>A (p.Glu102=)	ACTA1	Single nucleotide variant (synonymous variant)	Actin accumulation myopathy	GLikely benign
Select item 2793195	NM_001100.4(ACTA1):c.624C>A (p.Arg208=)	ACTA1	Single nucleotide variant (synonymous variant)	Actin accumulation myopathy	GLikely benign
Select item 2790387	NM_001100.4(ACTA1):c.991-14G>C	ACTA1	Single nucleotide variant (intron variant)	Actin accumulation myopathy	GLikely benign
Select item 2776821	NM_001100.4(ACTA1):c.538C>T (p.Leu180=)	ACTA1	Single nucleotide variant (synonymous variant)	Actin accumulation myopathy	GLikely benign
Select item 2775438	NM_001100.4(ACTA1):c.954G>C (p.Glu318Asp)	ACTA1 (E318D)	Single nucleotide variant (missense variant)	Actin accumulation myopathy +2 more	GUncertain significance
Select item 2765700	NM_001100.4(ACTA1):c.216T>A (p.Pro72=)	ACTA1	Single nucleotide variant (synonymous variant)	Actin accumulation myopathy	GLikely benign
Select item 2756194	NM_001100.4(ACTA1):c.69C>A (p.Phe23Leu)	ACTA1 (F23L)	Single nucleotide variant (missense variant)	Actin accumulation myopathy	GUncertain significance
Select item 2755663	NM_001100.4(ACTA1):c.280A>T (p.Asn94Tyr)	ACTA1 (N94Y)	Single nucleotide variant (missense variant)	Actin accumulation myopathy	GPathogenic
Select item 2750281	NM_001100.4(ACTA1):c.366C>A (p.Thr122=)	ACTA1	Single nucleotide variant (synonymous variant)	Actin accumulation myopathy	GLikely benign
Select item 2750098	NM_001100.4(ACTA1):c.428C>T (p.Ser143Phe)	ACTA1 (S143F)	Single nucleotide variant (missense variant)	Actin accumulation myopathy	GUncertain significance
Select item 2744116	NM_001100.4(ACTA1):c.627G>T (p.Glu209Asp)	ACTA1 (E209D)	Single nucleotide variant (missense variant)	Actin accumulation myopathy	GUncertain significance
Select item 2742197	NM_001100.4(ACTA1):c.455-20TC[2]	ACTA1	Microsatellite (intron variant)	Actin accumulation myopathy	GUncertain significance
Select item 2737692	NM_001100.4(ACTA1):c.130-1G>A	ACTA1	Single nucleotide variant (splice acceptor variant)	Actin accumulation myopathy	GLikely pathogenic
Select item 2734106	NM_001100.4(ACTA1):c.338A>G (p.Asn113Ser)	ACTA1 (N113S)	Single nucleotide variant (missense variant)	Actin accumulation myopathy	GPathogenic
Select item 2734105	NM_001100.4(ACTA1):c.758G>A (p.Gly253Asp)	ACTA1 (G253D)	Single nucleotide variant (missense variant)	Actin accumulation myopathy	GLikely pathogenic
Select item 2734104	NM_001100.4(ACTA1):c.808G>A (p.Gly270Ser)	ACTA1 (G270S)	Single nucleotide variant (missense variant)	Actin accumulation myopathy	GPathogenic
Select item 2733124	NM_001100.4(ACTA1):c.990+10G>C	ACTA1	Single nucleotide variant (intron variant)	Actin accumulation myopathy	GLikely benign
Select item 2722691	NM_001100.4(ACTA1):c.991-12G>T	ACTA1	Single nucleotide variant (intron variant)	Actin accumulation myopathy	GLikely benign
Select item 2716394	NM_001100.4(ACTA1):c.617-10C>T	ACTA1	Single nucleotide variant (intron variant)	Actin accumulation myopathy	GLikely benign
Select item 2715143	NM_001100.4(ACTA1):c.805A>G (p.Ile269Val)	ACTA1 (I269V)	Single nucleotide variant (missense variant)	Actin accumulation myopathy	GUncertain significance
Select item 2710175	NM_001100.4(ACTA1):c.64G>T (p.Gly22Cys)	ACTA1 (G22C)	Single nucleotide variant (missense variant)	Actin accumulation myopathy	GUncertain significance
Select item 2706465	NM_001100.4(ACTA1):c.130-11C>A	ACTA1	Single nucleotide variant (intron variant)	Actin accumulation myopathy	GUncertain significance
Select item 2706133	NM_001100.4(ACTA1):c.349A>T (p.Asn117Tyr)	ACTA1 (N117Y)	Single nucleotide variant (missense variant)	Actin accumulation myopathy	GUncertain significance
Select item 2704889	NM_001100.4(ACTA1):c.836C>A (p.Thr279Asn)	ACTA1 (T279N)	Single nucleotide variant (missense variant)	Actin accumulation myopathy	GUncertain significance
Select item 2697379	NM_001100.4(ACTA1):c.82G>A (p.Ala28Thr)	ACTA1 (A28T)	Single nucleotide variant (missense variant)	Actin accumulation myopathy	GUncertain significance
Select item 2697196	NM_001100.4(ACTA1):c.284A>G (p.Glu95Gly)	ACTA1 (E95G)	Single nucleotide variant (missense variant)	Actin accumulation myopathy	GUncertain significance
Select item 2690832	NM_001100.4(ACTA1):c.875G>A (p.Arg292Lys)	ACTA1 (R292K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2685840	GRCh37/hg19 1q42.13-44(chr1:229373250-249206595)x3	ABCB10, ACTA1 +137 more	Copy number gain	not provided	GPathogenic
Select item 2640061	NM_001100.4(ACTA1):c.646G>A (p.Glu216Lys)	ACTA1 (E216K)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2637956	NM_001100.4(ACTA1):c.661G>T (p.Val221Leu)	ACTA1 (V221L)	Single nucleotide variant (missense variant)	Alpha-actinopathy	GUncertain significance
Select item 2637032	NM_001100.4(ACTA1):c.55G>A (p.Val19Met)	ACTA1 (V19M)	Single nucleotide variant (missense variant)	ACTA1-related disorder	GUncertain significance
Select item 2635623	NM_001100.4(ACTA1):c.686T>C (p.Met229Thr)	ACTA1 (M229T)	Single nucleotide variant (missense variant)	ACTA1-related disorder	GPathogenic
Select item 2635438	NM_001100.4(ACTA1):c.640A>G (p.Ile214Val)	ACTA1 (I214V)	Single nucleotide variant (missense variant)	ACTA1-related disorder	GUncertain significance
Select item 2633560	NM_001100.4(ACTA1):c.1008G>C (p.Glu336Asp)	ACTA1 (E336D)	Single nucleotide variant (missense variant)	ACTA1-related disorder	GLikely pathogenic
Select item 2632575	NM_001100.4(ACTA1):c.536G>A (p.Arg179His)	ACTA1 (R179H)	Single nucleotide variant (missense variant)	ACTA1-related disorder	GLikely pathogenic
Select item 2627920	NM_001100.4(ACTA1):c.936del (p.Asp313fs)	ACTA1 (D313fs)	Deletion (frameshift variant)	Alpha-actinopathy	GLikely pathogenic
Select item 2582826	NM_001100.4(ACTA1):c.772C>G (p.Arg258Gly)	ACTA1 (R258G)	Single nucleotide variant (missense variant)	Congenital myopathy +1 more	GLikely pathogenic
Select item 2582825	NM_001100.4(ACTA1):c.1119C>G (p.His373Gln)	ACTA1 (H373Q)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2582824	NM_001100.4(ACTA1):c.1125A>C (p.Lys375Asn)	ACTA1 (K375N)	Single nucleotide variant (missense variant)	Nemaline myopathy	GLikely pathogenic
Select item 2582823	NM_001100.4(ACTA1):c.113G>C (p.Gly38Ala)	ACTA1 (G38A)	Single nucleotide variant (missense variant)	Actin accumulation myopathy	GPathogenic
Select item 2582822	NM_001100.4(ACTA1):c.130-5T>A	ACTA1	Single nucleotide variant (intron variant)	Nemaline myopathy	GUncertain significance
Select item 2582821	NM_001100.4(ACTA1):c.210G>A (p.Lys70=)	ACTA1	Single nucleotide variant (synonymous variant)	Actin accumulation myopathy	GUncertain significance
Select item 2582820	NM_001100.4(ACTA1):c.627G>C (p.Glu209Asp)	ACTA1 (E209D)	Single nucleotide variant (missense variant)	Actin accumulation myopathy	GUncertain significance
Select item 2582819	NM_001100.4(ACTA1):c.630C>G (p.Ile210Met)	ACTA1 (I210M)	Single nucleotide variant (missense variant)	Myopathy	GUncertain significance
Select item 2582818	NM_001100.4(ACTA1):c.834G>T (p.Glu278Asp)	ACTA1 (E278D)	Single nucleotide variant (missense variant)	Actin accumulation myopathy	GLikely pathogenic
Select item 2582817	NM_001100.4(ACTA1):c.889G>A (p.Ala297Thr)	ACTA1 (A297T)	Single nucleotide variant (missense variant)	Myopathy	GPathogenic
Select item 2582816	NM_001100.4(ACTA1):c.1106C>A (p.Pro369His)	ACTA1 (P369H)	Single nucleotide variant (missense variant)	Myopathy	GUncertain significance
Select item 2582815	NM_001100.4(ACTA1):c.143G>C (p.Gly48Ala)	ACTA1 (G48A)	Single nucleotide variant (missense variant)	Congenital myopathy with fiber type disproportion	GLikely pathogenic
Select item 2582814	NM_001100.4(ACTA1):c.317T>C (p.Leu106Pro)	ACTA1 (L106P)	Single nucleotide variant (missense variant)	Neuromuscular disease	GLikely pathogenic
Select item 2582813	NM_001100.4(ACTA1):c.327G>C (p.Glu109Asp)	ACTA1 (E109D)	Single nucleotide variant (missense variant)	Actin accumulation myopathy	GLikely pathogenic
Select item 2582812	NM_001100.4(ACTA1):c.449C>T (p.Thr150Ile)	ACTA1 (T150I)	Single nucleotide variant (missense variant)	Intranuclear rod myopathy	GUncertain significance
Select item 2582811	NM_001100.4(ACTA1):c.440C>A (p.Ser147Tyr)	ACTA1 (S147Y)	Single nucleotide variant (missense variant)	Fetal akinesia deformation sequence +1 more	GPathogenic/Likely pathogenic
Select item 2582810	NM_001100.4(ACTA1):c.440C>T (p.Ser147Phe)	ACTA1 (S147F)	Single nucleotide variant (missense variant)	Neuromuscular disease	GLikely pathogenic
Select item 2582809	NM_001100.4(ACTA1):c.443G>T (p.Gly148Val)	ACTA1 (G148V)	Single nucleotide variant (missense variant)	Nemaline myopathy +1 more	GLikely pathogenic
Select item 2582808	NM_001100.4(ACTA1):c.616+2T>C	ACTA1	Single nucleotide variant (splice donor variant)	Neuromuscular disease	GLikely pathogenic
Select item 2582807	NM_001100.4(ACTA1):c.854T>G (p.Met285Arg)	ACTA1 (M285R)	Single nucleotide variant (missense variant)	Actin accumulation myopathy	GPathogenic
Select item 2582806	NM_001100.4(ACTA1):c.868G>A (p.Asp290Asn)	ACTA1 (D290N)	Single nucleotide variant (missense variant)	Nemaline myopathy	GPathogenic
Select item 2582805	NM_001100.4(ACTA1):c.925C>T (p.Pro309Ser)	ACTA1 (P309S)	Single nucleotide variant (missense variant)	Congenital myopathy	GLikely pathogenic
Select item 2582804	NM_001100.4(ACTA1):c.89G>A (p.Arg30Lys)	ACTA1 (R30K)	Single nucleotide variant (missense variant)	Actin accumulation myopathy	GLikely pathogenic
Select item 2582803	NM_001100.4(ACTA1):c.122G>T (p.Arg41Leu)	ACTA1 (R41L)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2582802	NM_001100.4(ACTA1):c.239A>C (p.Asn80Thr)	ACTA1 (N80T)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2582801	NM_001100.4(ACTA1):c.364A>C (p.Thr122Pro)	ACTA1 (T122P)	Single nucleotide variant (missense variant)	Myopathy	GLikely pathogenic
Select item 2582800	NM_001100.4(ACTA1):c.506A>G (p.Glu169Gly)	ACTA1 (E169G)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2582799	NM_001100.4(ACTA1):c.541G>C (p.Asp181His)	ACTA1 (D181H)	Single nucleotide variant (missense variant)	Actin accumulation myopathy	GPathogenic
Select item 2582798	NM_001100.4(ACTA1):c.556G>C (p.Asp186His)	ACTA1 (D186H)	Single nucleotide variant (missense variant)	Actin accumulation myopathy	GLikely pathogenic
Select item 2582797	NM_001100.4(ACTA1):c.586A>C (p.Thr196Pro)	ACTA1 (T196P)	Single nucleotide variant (missense variant)	Actin accumulation myopathy	GLikely pathogenic
Select item 2582796	NM_001100.4(ACTA1):c.723C>A (p.Ser241Arg)	ACTA1 (S241R)	Single nucleotide variant (missense variant)	Neuromuscular disease	GLikely pathogenic
Select item 2582795	NM_001100.4(ACTA1):c.766C>G (p.Arg256Gly)	ACTA1 (R256G)	Single nucleotide variant (missense variant)	Congenital myopathy +1 more	GLikely pathogenic
Select item 2582794	NM_001100.4(ACTA1):c.880G>T (p.Asp294Tyr)	ACTA1 (D294Y)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy +1 more	GConflicting classifications of pathogenicity
Select item 2582036	NM_001100.4(ACTA1):c.175G>A (p.Glu59Lys)	ACTA1 (E59K)	Single nucleotide variant (missense variant)	Nemaline myopathy +1 more	GConflicting classifications of pathogenicity
Select item 2507259	NM_001100.4(ACTA1):c.1061T>C (p.Phe354Ser)	ACTA1 (F354S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2501790	NM_001100.4(ACTA1):c.593G>A (p.Arg198His)	ACTA1 (R198H)	Single nucleotide variant (missense variant)	Congenital myopathy 2c, severe infantile, autosomal dominant	GPathogenic
Select item 2443897	NM_001100.4(ACTA1):c.809-1G>T	ACTA1	Single nucleotide variant (splice acceptor variant)	Congenital myopathy 2b, severe infantile, autosomal recessive	GPathogenic
Select item 2443895	NM_001100.4(ACTA1):c.121C>T (p.Arg41Ter)	ACTA1 (R41*)	Single nucleotide variant (nonsense)	Congenital myopathy 2b, severe infantile, autosomal recessive	GPathogenic

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