"PreventionGenetics, part of Exact Sciences"[submitter] AND "ACTG2"[ge - ClinVar

	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)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 3030932	NM_001615.4(ACTG2):c.222C>T (p.His74=)	ACTG2	Single nucleotide variant (synonymous variant +1 more)	ACTG2-related disorder	GLikely benign
Select item 712354	NM_001615.4(ACTG2):c.246C>T (p.Asp82=)	ACTG2	Single nucleotide variant (synonymous variant +1 more)	ACTG2-related disorder +1 more	GBenign/Likely benign
Select item 132800	NM_001615.4(ACTG2):c.532C>T (p.Arg178Cys)	ACTG2 (R178C +1 more)	Single nucleotide variant (missense variant)	Megacystis-microcolon-intestinal hypoperistalsis syndrome 5 +3 more	GPathogenic
Select item 379697	NM_001615.4(ACTG2):c.584C>T (p.Thr195Ile)	ACTG2 (T195I +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3056757	NM_001615.4(ACTG2):c.613+8G>T	ACTG2	Single nucleotide variant (intron variant)	ACTG2-related disorder	GBenign
Select item 495145	NM_001615.4(ACTG2):c.632G>A (p.Arg211Gln)	ACTG2 (R211Q +1 more)	Single nucleotide variant (missense variant)	ACTG2-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 3038553	NM_001615.4(ACTG2):c.*8A>G	ACTG2	Single nucleotide variant (3 prime UTR variant)	ACTG2-related disorder	GBenign

ClinVar