ClinVar for Gene (Select 5342) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2355334	NM_002665.4(PLGLB2):c.221T>C (p.Val74Ala)	PLGLB2 (V74A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346911	NM_002665.4(PLGLB2):c.277T>G (p.Leu93Val)	PLGLB2 (L93V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344696	NM_002665.4(PLGLB2):c.272C>A (p.Ala91Glu)	PLGLB2 (A91E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331736	NM_002665.4(PLGLB2):c.22C>A (p.Leu8Ile)	PLGLB2 (L8I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 153632	GRCh38/hg38 2p11.2(chr2:85014686-88826619)x1	ATOH8, C2orf68 +179 more	Copy number loss	See cases	GPathogenic
Select item 148476	GRCh38/hg38 2p11.2(chr2:87375475-90282666)x3	CYTOR, EIF2AK3 +101 more	Copy number gain	See cases	GUncertain significance
Select item 146363	GRCh38/hg38 2p11.2-11.1(chr2:87098178-91884275)x3	LOC122787150, LOC122787151 +104 more	Copy number gain	See cases	GUncertain significance
Select item 145403	GRCh38/hg38 2p12-11.2(chr2:77025216-90282666)x3	ATOH8, C2orf68 +302 more	Copy number gain	See cases	GPathogenic
Select item 144358	GRCh38/hg38 2p11.2(chr2:87148954-87961277)x3	CYTOR, LINC01943 +6 more	Copy number gain	See cases	GBenign

ClinVar