C5542197[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[su - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 132802	NM_001615.4(ACTG2):c.119G>A (p.Arg40His)	ACTG2 (R40H)	Single nucleotide variant (missense variant)	Visceral myopathy 1 +3 more	GPathogenic/Likely pathogenic
Select item 132800	NM_001615.4(ACTG2):c.532C>T (p.Arg178Cys)	ACTG2 (R178C +1 more)	Single nucleotide variant (missense variant)	ACTG2-related disorder +3 more	GPathogenic
Select item 132801	NM_001615.4(ACTG2):c.533G>A (p.Arg178His)	ACTG2 (R178H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GPathogenic
Select item 132803	NM_001615.4(ACTG2):c.769C>T (p.Arg257Cys)	ACTG2 (R257C +1 more)	Single nucleotide variant (missense variant)	Visceral myopathy 1 +4 more	GPathogenic
Select item 818204	NM_006097.5(MYL9):c.184+2_184+10del	DLGAP4-AS1, MYL9	Deletion (splice donor variant)	Visceral myopathy 1	GUncertain significance
Select item 818205	GRCh37/hg19 20q11.23(chr20:35177459-35178246)x1	MYL9	Copy number loss	Visceral myopathy 1	GUncertain significance

ClinVar