"Ambry Genetics"[submitter] AND "ACTR6"[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2300970	NM_022496.5(ACTR6):c.419C>T (p.Pro140Leu)	ACTR6 (P140L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2474698	NM_022496.5(ACTR6):c.612A>C (p.Gln204His)	ACTR6 (Q204H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3142617	NM_022496.5(ACTR6):c.692C>T (p.Thr231Ile)	ACTR6 (T231I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2532153	NM_022496.5(ACTR6):c.692C>G (p.Thr231Arg)	ACTR6 (T231R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2307874	NM_022496.5(ACTR6):c.829G>A (p.Val277Ile)	ACTR6 (V277I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2514205	NM_022496.5(ACTR6):c.833C>T (p.Pro278Leu)	ACTR6 (P278L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3142622	NM_022496.5(ACTR6):c.931C>G (p.Pro311Ala)	ACTR6 (P311A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3142625	NM_022496.5(ACTR6):c.992A>T (p.Asp331Val)	ACTR6 (D331V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2389115	NM_022496.5(ACTR6):c.994C>T (p.Arg332Trp)	ACTR6 (R332W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2222952	NM_022496.5(ACTR6):c.995G>A (p.Arg332Gln)	ACTR6 (R332Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2380177	NM_022496.5(ACTR6):c.1062C>A (p.Asn354Lys)	ACTR6 (N354K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance