"Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine"[submitter - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 132799	NM_001615.4(ACTG2):c.118C>T (p.Arg40Cys)	ACTG2 (R40C)	Single nucleotide variant (missense variant)	Visceral myopathy 1 +1 more	GPathogenic/Likely pathogenic
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 218309	NM_001615.4(ACTG2):c.134T>C (p.Met45Thr)	ACTG2 (M45T)	Single nucleotide variant (missense variant +1 more)	Visceral myopathy 1	GPathogenic
Select item 218310	NM_001615.4(ACTG2):c.187C>G (p.Arg63Gly)	ACTG2 (R63G)	Single nucleotide variant (missense variant +1 more)	Visceral myopathy 1	GPathogenic
Select item 218311	NM_001615.4(ACTG2):c.255+210C>A	ACTG2	Single nucleotide variant (intron variant)	Visceral myopathy 1	GPathogenic
Select item 132805	NM_001615.4(ACTG2):c.400T>A (p.Tyr134Asn)	ACTG2 (Y134N +1 more)	Single nucleotide variant (missense variant)	Visceral myopathy 1 +1 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)	Visceral myopathy 1 +2 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 218312	NM_001615.4(ACTG2):c.593G>A (p.Gly198Asp)	ACTG2 (G198D +1 more)	Single nucleotide variant (missense variant)	Visceral myopathy 1	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