"Revvity Omics, Revvity"[submitter] AND "ACTA1"[gene] - ClinVar

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Items: 28

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 843807	NM_001100.4(ACTA1):c.1057A>G (p.Thr353Ala)	ACTA1 (T353A)	Single nucleotide variant (missense variant)	not provided +1 more	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 532770	NM_001100.4(ACTA1):c.1001C>T (p.Pro334Leu)	ACTA1 (P334L)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely pathogenic
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 224672	NM_001100.4(ACTA1):c.923A>G (p.Tyr308Cys)	ACTA1 (Y308C)	Single nucleotide variant (missense variant)	Actin accumulation myopathy +1 more	GConflicting classifications of pathogenicity
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 2438830	NM_001100.4(ACTA1):c.826_827delinsCC (p.Ile276Pro)	ACTA1 (I276P)	Indel (missense variant)	not provided	GUncertain significance
Select item 464134	NM_001100.4(ACTA1):c.811A>G (p.Met271Val)	ACTA1 (M271V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 434074	NM_001100.4(ACTA1):c.809G>A (p.Gly270Asp)	ACTA1 (G270D)	Single nucleotide variant (missense variant)	Neurodevelopmental delay +2 more	GPathogenic/Likely pathogenic
Select item 807360	NM_001100.4(ACTA1):c.738C>A (p.Asp246Glu)	ACTA1 (D246E)	Single nucleotide variant (missense variant)	Actin accumulation myopathy +1 more	GConflicting classifications of pathogenicity
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 858299	NM_001100.4(ACTA1):c.676G>A (p.Glu226Lys)	ACTA1 (E226K)	Single nucleotide variant (missense variant)	Actin accumulation myopathy +1 more	GUncertain significance
Select item 1051987	NM_001100.4(ACTA1):c.617-5C>A	ACTA1	Single nucleotide variant (intron variant)	Actin accumulation myopathy +1 more	GConflicting classifications of pathogenicity
Select item 1447156	NM_001100.4(ACTA1):c.587C>T (p.Thr196Ile)	ACTA1 (T196I)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 420100	NM_001100.4(ACTA1):c.541del (p.Asp181fs)	ACTA1 (D181fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely 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 18292	NM_001100.4(ACTA1):c.493G>A (p.Val165Met)	ACTA1 (V165M)	Single nucleotide variant (missense variant)	Actin accumulation myopathy +1 more	GPathogenic
Select item 296057	NM_001100.4(ACTA1):c.454+3G>T	ACTA1	Single nucleotide variant (intron variant)	Congenital myopathy with fiber type disproportion +3 more	GConflicting classifications of pathogenicity
Select item 93549	NM_001100.4(ACTA1):c.442G>A (p.Gly148Ser)	ACTA1	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 845550	NM_001100.4(ACTA1):c.427T>C (p.Ser143Pro)	ACTA1 (S143P)	Single nucleotide variant (missense variant)	Actin accumulation myopathy +1 more	GConflicting classifications of pathogenicity
Select item 464121	NM_001100.4(ACTA1):c.389A>G (p.Asn130Ser)	ACTA1 (N130S)	Single nucleotide variant (missense variant)	Alpha-actinopathy +2 more	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 1323850	NM_001100.4(ACTA1):c.236_237delinsA (p.Thr79fs)	ACTA1 (T79fs)	Indel (frameshift variant)	not provided	GLikely pathogenic
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 464119	NM_001100.4(ACTA1):c.197T>A (p.Ile66Asn)	ACTA1 (I66N)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2434933	NM_001100.4(ACTA1):c.145A>G (p.Met49Val)	ACTA1 (M49V)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic

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Items: 28