Related gene-specific medical variations for Gene (Select 58) - ClinVar

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Items: 64

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 2690832	NM_001100.4(ACTA1):c.875G>A (p.Arg292Lys)	ACTA1 (R292K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 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 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 2442103	NM_001100.4(ACTA1):c.1127G>A (p.Cys376Tyr)	ACTA1 (C376Y)	Single nucleotide variant (missense variant)	Actin accumulation myopathy	GUncertain significance
Select item 2438836	NM_001100.4(ACTA1):c.223C>A (p.His75Asn)	ACTA1 (H75N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2438835	NM_001100.4(ACTA1):c.1055C>T (p.Ser352Phe)	ACTA1 (S352F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2438833	NM_001100.4(ACTA1):c.1049C>G (p.Ser350Trp)	ACTA1 (S350W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2438832	NM_001100.4(ACTA1):c.280A>C (p.Asn94His)	ACTA1 (N94H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2438831	NM_001100.4(ACTA1):c.975C>A (p.Ser325Arg)	ACTA1 (S325R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2438830	NM_001100.4(ACTA1):c.826_827delinsCC (p.Ile276Pro)	ACTA1 (I276P)	Indel (missense variant)	not provided	GUncertain significance
Select item 1676539	NM_001100.4(ACTA1):c.583C>G (p.Leu195Val)	ACTA1 (L195V)	Single nucleotide variant	not provided	GUncertain significance
Select item 1323850	NM_001100.4(ACTA1):c.236_237delinsA (p.Thr79fs)	ACTA1 (T79fs)	Indel (frameshift variant)	not provided	GLikely pathogenic
Select item 1323848	NM_001100.4(ACTA1):c.498_528del (p.Ile167fs)	ACTA1 (I167fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 1322764	NM_001100.4(ACTA1):c.494del (p.Val165fs)	ACTA1 (V165fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1276731	NM_001100.4(ACTA1):c.-13+159G>A	ACTA1, LOC122152321	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 931505	NM_001100.4(ACTA1):c.809-19_809-18insA	ACTA1	Insertion (intron variant)	Progressive scapulohumeroperoneal distal myopathy	GUncertain significance
Select item 870613	NM_001100.4(ACTA1):c.402G>T (p.Met134Ile)	ACTA1 (M134I)	Single nucleotide variant (missense variant)	Actin accumulation myopathy	GPathogenic
Select item 806377	NM_001100.4(ACTA1):c.455-2A>G	ACTA1	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 636712	NM_001100.4(ACTA1):c.1046C>T (p.Ala349Val)	ACTA1 (A349V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 549690	NM_001100.4(ACTA1):c.493G>C (p.Val165Leu)	ACTA1 (V165L)	Single nucleotide variant (missense variant)	Progressive scapulohumeroperoneal distal myopathy	GPathogenic
Select item 296062	NM_001100.4(ACTA1):c.-66C>T	ACTA1, LOC122152321	Single nucleotide variant (5 prime UTR variant)	Familial restrictive cardiomyopathy +3 more	GBenign
Select item 296061	NM_001100.4(ACTA1):c.-66_-65delinsTC	ACTA1, LOC122152321	Indel (5 prime UTR variant)	Familial restrictive cardiomyopathy +2 more	GUncertain significance
Select item 296060	NM_001100.4(ACTA1):c.-65T>C	ACTA1, LOC122152321	Single nucleotide variant (5 prime UTR variant)	Familial restrictive cardiomyopathy +3 more	GBenign
Select item 257446	NM_001100.4(ACTA1):c.454+36C>T	ACTA1	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 257443	NM_001100.4(ACTA1):c.165C>T (p.Tyr55=)	ACTA1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 242762	NM_001100.4(ACTA1):c.222G>T (p.Glu74Asp)	ACTA1	Single nucleotide variant (missense variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 242693	NM_001100.4(ACTA1):c.223C>T (p.His75Tyr)	ACTA1 (H75Y)	Single nucleotide variant (missense variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 42108	NM_001100.4(ACTA1):c.621G>C (p.Glu207Asp)	ACTA1 (E207D)	Single nucleotide variant (missense variant)	Congenital myopathy with fiber type disproportion	Gnot provided

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Links from Gene

Items: 64