USP30-AS1[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	LOC130008916, LOC130008917 +4836 more	Copy number gain	See cases	GPathogenic
Select item 154380	GRCh38/hg38 12q21.33-24.11(chr12:91044318-109133210)x3	ABTB3, ACACB +712 more	Copy number gain	See cases	GPathogenic
Select item 57157	GRCh38/hg38 12q23.3-24.13(chr12:105234677-112194686)x1	LOC130008692, LOC130008693 +316 more	Copy number loss	See cases	GPathogenic
Select item 3187380	NM_032663.5(USP30):c.14G>A (p.Arg5Gln)	USP30, USP30-AS1 (R5Q)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2519495	NM_032663.5(USP30):c.30G>A (p.Met10Ile)	USP30, USP30-AS1 (M10I)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2211541	NM_032663.5(USP30):c.35C>T (p.Ala12Val)	USP30, USP30-AS1 (A12V)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2210340	NM_032663.5(USP30):c.74C>A (p.Ala25Glu)	USP30, USP30-AS1 (A25E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

ClinVar