"Ambry Genetics"[submitter] AND "USP46"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2284249	NM_022832.4(USP46):c.907G>A (p.Val303Ile)	USP46 (V291I +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2482542	NM_022832.4(USP46):c.798A>C (p.Arg266Ser)	USP46 (R150S +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2491779	NM_022832.4(USP46):c.797G>A (p.Arg266Lys)	USP46 (R254K +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2379346	NM_022832.4(USP46):c.242C>T (p.Ala81Val)	USP46 (A81V +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2360079	NM_022832.4(USP46):c.233C>T (p.Thr78Met)	USP46 (T66M +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2309773	NM_022832.4(USP46):c.178C>T (p.Arg60Trp)	USP46 (R48W +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance

ClinVar