"GeneDx"[submitter] AND "USP34"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 60146	GRCh38/hg38 2p16.1-15(chr2:56738054-62473668)x1	B3GNT2, BCL11A +161 more	Copy number loss	See cases	GPathogenic
Select item 60147	GRCh38/hg38 2p16.1-15(chr2:57249378-61842734)x1	LOC110120782, LOC110120811 +123 more	Copy number loss	See cases	GPathogenic
Select item 60148	GRCh38/hg38 2p16.1-14(chr2:58873039-64190332)x1	B3GNT2, BCL11A +187 more	Copy number loss	See cases	GPathogenic
Select item 1229915	NM_014709.4(USP34):c.10386T>C (p.Ala3462=)	USP34	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 1284128	NM_014709.4(USP34):c.6711A>G (p.Lys2237=)	USP34	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 680903	NM_014709.4(USP34):c.4832+6C>T	USP34	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1283809	NM_014709.4(USP34):c.1467A>G (p.Ala489=)	USP34	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 253686	GRCh37/hg19 2p16.1-15(chr2:60405806-62442792)x3	B3GNT2, BCL11A +11 more	Copy number gain	See cases	GUncertain significance

ClinVar