ClinVar for MedGen (Select 777997) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3341309	NM_001100.4(ACTA1):c.299C>A (p.Pro100His)	ACTA1 (P100H)	Single nucleotide variant (missense variant)	Actin accumulation myopathy	GUncertain significance
Select item 3238763	NM_001100.4(ACTA1):c.739G>T (p.Gly247Trp)	ACTA1 (G247W)	Single nucleotide variant (missense variant)	Actin accumulation myopathy	GUncertain significance
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 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 2671700	NM_001101362.3(KBTBD13):c.212C>A (p.Ala71Glu)	KBTBD13 (A71E)	Single nucleotide variant (missense variant)	Actin accumulation myopathy	GUncertain significance
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 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 2582818	NM_001100.4(ACTA1):c.834G>T (p.Glu278Asp)	ACTA1 (E278D)	Single nucleotide variant (missense variant)	Actin accumulation myopathy	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 2582810	NM_001100.4(ACTA1):c.440C>T (p.Ser147Phe)	ACTA1 (S147F)	Single nucleotide variant (missense variant)	Actin accumulation myopathy +1 more	GPathogenic/Likely 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 2582804	NM_001100.4(ACTA1):c.89G>A (p.Arg30Lys)	ACTA1 (R30K)	Single nucleotide variant (missense variant)	Actin accumulation myopathy	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 2507259	NM_001100.4(ACTA1):c.1061T>C (p.Phe354Ser)	ACTA1 (F354S)	Single nucleotide variant (missense variant)	Actin accumulation myopathy +1 more	GUncertain significance
Select item 2442103	NM_001100.4(ACTA1):c.1127G>A (p.Cys376Tyr)	ACTA1 (C376Y)	Single nucleotide variant (missense variant)	Actin accumulation myopathy	GUncertain significance
Select item 2434933	NM_001100.4(ACTA1):c.145A>G (p.Met49Val)	ACTA1 (M49V)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 2203001	NM_001100.4(ACTA1):c.50G>A (p.Gly17Asp)	ACTA1 (G17D)	Single nucleotide variant (missense variant)	Actin accumulation myopathy	GPathogenic
Select item 2203000	NM_001100.4(ACTA1):c.407T>C (p.Val136Ala)	ACTA1 (V136A)	Single nucleotide variant (missense variant)	Actin accumulation myopathy	GUncertain significance
Select item 2202998	NM_001100.4(ACTA1):c.611C>T (p.Thr204Ile)	ACTA1 (T204I)	Single nucleotide variant (missense variant)	Actin accumulation myopathy	GPathogenic
Select item 2201459	NM_001100.4(ACTA1):c.405C>T (p.Tyr135=)	ACTA1	Single nucleotide variant (synonymous variant)	Actin accumulation myopathy	GLikely benign
Select item 2195257	NM_001100.4(ACTA1):c.617-8C>T	ACTA1	Single nucleotide variant (intron variant)	Actin accumulation myopathy +1 more	GConflicting classifications of pathogenicity
Select item 2191787	NM_001100.4(ACTA1):c.311C>A (p.Pro104His)	ACTA1 (P104H)	Single nucleotide variant (missense variant)	Actin accumulation myopathy	GUncertain significance
Select item 2158894	NM_001100.4(ACTA1):c.809-14_809-13insT	ACTA1	Insertion (intron variant)	Actin accumulation myopathy	GLikely benign
Select item 2156672	NM_001100.4(ACTA1):c.809-14G>A	ACTA1	Single nucleotide variant (intron variant)	Actin accumulation myopathy	GLikely benign
Select item 2149127	NM_001100.4(ACTA1):c.963G>T (p.Ala321=)	ACTA1	Single nucleotide variant (synonymous variant)	Actin accumulation myopathy	GLikely benign
Select item 2148607	NM_001100.4(ACTA1):c.716A>G (p.Glu239Gly)	ACTA1 (E239G)	Single nucleotide variant (missense variant)	Actin accumulation myopathy +1 more	GUncertain significance
Select item 2140887	NM_001100.4(ACTA1):c.809-9G>A	ACTA1	Single nucleotide variant (intron variant)	Actin accumulation myopathy	GUncertain significance
Select item 2133488	NM_001100.4(ACTA1):c.130-3C>T	ACTA1	Single nucleotide variant (intron variant)	Actin accumulation myopathy	GUncertain significance
Select item 2132822	NM_001100.4(ACTA1):c.491A>G (p.Asn164Ser)	ACTA1 (N164S)	Single nucleotide variant (missense variant)	Actin accumulation myopathy	GUncertain significance
Select item 2128194	NM_001100.4(ACTA1):c.844A>C (p.Asn282His)	ACTA1 (N282H)	Single nucleotide variant (missense variant)	Actin accumulation myopathy	GLikely pathogenic
Select item 2123531	NM_001100.4(ACTA1):c.215C>T (p.Pro72Leu)	ACTA1 (P72L)	Single nucleotide variant (missense variant)	Actin accumulation myopathy	GUncertain significance
Select item 2122409	NM_001100.4(ACTA1):c.808+18T>C	ACTA1	Single nucleotide variant (intron variant)	Actin accumulation myopathy	GLikely benign
Select item 2114348	NM_001100.4(ACTA1):c.249C>T (p.Asp83=)	ACTA1	Single nucleotide variant (synonymous variant)	Actin accumulation myopathy	GLikely benign
Select item 2113552	NM_001100.4(ACTA1):c.809-11G>A	ACTA1	Single nucleotide variant (intron variant)	Actin accumulation myopathy	GLikely benign
Select item 2112241	NM_001100.4(ACTA1):c.358A>C (p.Lys120Gln)	ACTA1 (K120Q)	Single nucleotide variant (missense variant)	Actin accumulation myopathy	GUncertain significance
Select item 2108675	NM_001100.4(ACTA1):c.1030G>A (p.Gly344Ser)	ACTA1 (G344S)	Single nucleotide variant (missense variant)	Actin accumulation myopathy	GUncertain significance
Select item 2086278	NM_001100.4(ACTA1):c.129+15C>T	ACTA1	Single nucleotide variant (intron variant)	Actin accumulation myopathy	GLikely benign
Select item 2075759	NM_001100.4(ACTA1):c.986T>C (p.Ile329Thr)	ACTA1 (I329T)	Single nucleotide variant (missense variant)	Actin accumulation myopathy	GUncertain significance
Select item 2068107	NM_001100.4(ACTA1):c.616+20C>A	ACTA1	Single nucleotide variant (intron variant)	Actin accumulation myopathy	GLikely benign
Select item 2062106	NM_001100.4(ACTA1):c.1010G>A (p.Arg337His)	ACTA1 (R337H)	Single nucleotide variant (missense variant)	Actin accumulation myopathy	GUncertain significance
Select item 2060778	NM_001100.4(ACTA1):c.906G>A (p.Ser302=)	ACTA1	Single nucleotide variant (synonymous variant)	Actin accumulation myopathy	GLikely benign
Select item 2060776	NM_001100.4(ACTA1):c.726C>T (p.Tyr242=)	ACTA1	Single nucleotide variant (synonymous variant)	Actin accumulation myopathy	GLikely benign
Select item 2060505	NM_001100.4(ACTA1):c.150T>C (p.Gly50=)	ACTA1	Single nucleotide variant (synonymous variant)	Actin accumulation myopathy	GLikely benign
Select item 2054260	NM_001100.4(ACTA1):c.920T>G (p.Met307Arg)	ACTA1 (M307R)	Single nucleotide variant (missense variant)	Actin accumulation myopathy	GPathogenic
Select item 2047711	NM_001100.4(ACTA1):c.991-14G>T	ACTA1	Single nucleotide variant (intron variant)	Actin accumulation myopathy	GLikely benign
Select item 2043450	NM_001100.4(ACTA1):c.751A>T (p.Thr251Ser)	ACTA1 (T251S)	Single nucleotide variant (missense variant)	Actin accumulation myopathy	GUncertain significance
Select item 2037793	NM_001100.4(ACTA1):c.1098G>A (p.Glu366=)	ACTA1	Single nucleotide variant (synonymous variant)	Actin accumulation myopathy	GLikely benign
Select item 2037395	NM_001100.4(ACTA1):c.991-12G>C	ACTA1	Single nucleotide variant (intron variant)	Actin accumulation myopathy	GLikely benign
Select item 2030953	NM_001100.4(ACTA1):c.431T>C (p.Leu144Pro)	ACTA1 (L144P)	Single nucleotide variant (missense variant)	Actin accumulation myopathy	GUncertain significance
Select item 2023833	NM_001100.4(ACTA1):c.516G>C (p.Ala172=)	ACTA1	Single nucleotide variant (synonymous variant)	Actin accumulation myopathy	GLikely benign
Select item 2008339	NM_001100.4(ACTA1):c.1075A>G (p.Ile359Val)	ACTA1 (I359V)	Single nucleotide variant (missense variant)	Actin accumulation myopathy	GLikely pathogenic

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