"GeneDx"[submitter] AND "SUMO1"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59159	GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3	LOC129935726, LOC129935727 +1665 more	Copy number gain	See cases	GPathogenic
Select item 152538	GRCh38/hg38 2q33.1-34(chr2:199946494-209985195)x1	ABI2, ADAM23 +293 more	Copy number loss	See cases	GPathogenic
Select item 1258470	NM_003352.8(SUMO1):c.88-150A>G	SUMO1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1274105	NM_003352.8(SUMO1):c.13-160C>G	SUMO1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1258266	NM_003352.8(SUMO1):c.12+251T>C	LOC129935428, SUMO1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1286859	NC_000002.12:g.202238678G>A	SUMO1	Single nucleotide variant	not provided	GBenign
Select item 253679	GRCh37/hg19 2q33.1(chr2:200776457-203070949)x3	ALS2, AOX1 +25 more	Copy number gain	See cases	GUncertain significance

ClinVar