ACTR3[gene] and "single gene"[properties] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3142426	NM_005721.5(ACTR3):c.45G>T (p.Gly15=)	ACTR3	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GLikely benign
Select item 2459469	NM_005721.5(ACTR3):c.199A>G (p.Ile67Val)	ACTR3 (I16V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610235	NM_005721.5(ACTR3):c.239A>G (p.His80Arg)	ACTR3 (H80R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2306014	NM_005721.5(ACTR3):c.683A>T (p.Lys228Met)	ACTR3 (K177M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2237605	NM_005721.5(ACTR3):c.779A>G (p.Asn260Ser)	ACTR3 (N209S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2556048	NM_005721.5(ACTR3):c.811G>A (p.Val271Ile)	ACTR3 (V271I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 783339	NM_005721.5(ACTR3):c.858+12dup	ACTR3	Duplication (intron variant)	not provided	GBenign
Select item 3142436	NM_005721.5(ACTR3):c.908T>C (p.Val303Ala)	ACTR3 (V252A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

ClinVar