ClinVar for MedGen (Select 905125) - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 1709939	NM_001100.4(ACTA1):c.1027A>G (p.Ile343Val)	ACTA1 (I343V)	Single nucleotide variant (missense variant)	Progressive scapulohumeroperoneal distal myopathy	GUncertain significance
Select item 1705499	NM_001100.4(ACTA1):c.448A>T (p.Thr150Ser)	ACTA1 (T150S)	Single nucleotide variant (missense variant)	Progressive scapulohumeroperoneal distal myopathy	GLikely pathogenic
Select item 931505	NM_001100.4(ACTA1):c.809-19_809-18insA	ACTA1	Insertion (intron variant)	Progressive scapulohumeroperoneal distal myopathy	GUncertain significance
Select item 930499	NM_001100.4(ACTA1):c.61G>A (p.Ala21Thr)	ACTA1 (A21T)	Single nucleotide variant (missense variant)	Progressive scapulohumeroperoneal distal myopathy +1 more	GUncertain significance
Select item 676564	NM_001100.4(ACTA1):c.455-53A>C	ACTA1	Single nucleotide variant (intron variant)	Progressive scapulohumeroperoneal distal myopathy +3 more	GBenign
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 432685	NM_001100.4(ACTA1):c.821C>T (p.Ala274Val)	ACTA1 (A274V)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 280863	NM_001100.4(ACTA1):c.435C>A (p.Tyr145Ter)	ACTA1 (Y145*)	Single nucleotide variant (nonsense)	Actin accumulation myopathy +3 more	GPathogenic/Likely pathogenic
Select item 257445	NM_001100.4(ACTA1):c.453C>A (p.Thr151=)	ACTA1	Single nucleotide variant (synonymous variant)	Familial restrictive cardiomyopathy +5 more	GBenign/Likely benign
Select item 224412	NM_001100.4(ACTA1):c.591G>T (p.Glu197Asp)	ACTA1 (E197D)	Single nucleotide variant (missense variant)	Actin accumulation myopathy +1 more	GPathogenic
Select item 42107	NM_001100.4(ACTA1):c.16G>A (p.Glu6Lys)	ACTA1 (E6K)	Single nucleotide variant (missense variant)	Actin accumulation myopathy +1 more	GPathogenic/Likely pathogenic
Select item 18291	NM_001100.4(ACTA1):c.1000C>T (p.Pro334Ser)	ACTA1 (P334S)	Single nucleotide variant (missense variant)	Actin accumulation myopathy	GLikely pathogenic
Select item 18283	NM_001100.4(ACTA1):c.782A>T (p.Glu261Val)	ACTA1 (E261V)	Single nucleotide variant (missense variant)	ACTA1-related myopathies +4 more	GPathogenic/Likely pathogenic