"GeneDx"[submitter] AND "RSPO4"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58945	GRCh38/hg38 20p13(chr20:121781-2290194)x1	ANGPT4, C20orf202 +120 more	Copy number loss	See cases	GPathogenic
Select item 58940	GRCh38/hg38 20p13(chr20:828964-1241192)x3	ANGPT4, C20orf202 +21 more	Copy number gain	See cases	GUncertain significance
Select item 2352533	NM_001029871.4(RSPO4):c.455A>C (p.His152Pro)	RSPO4 (H152P)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2500661	NM_001029871.4(RSPO4):c.320G>A (p.Cys107Tyr)	RSPO4 (C107Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 521270	NM_001029871.4(RSPO4):c.79+1G>A	RSPO4	Single nucleotide variant (splice donor variant)	not provided +2 more	GPathogenic
Select item 253647	GRCh37/hg19 20p13-11.1(chr20:80198-26075841)x3	ABHD12, ACSS1 +176 more	Copy number gain	See cases	GPathogenic
Select item 253566	GRCh37/hg19 20p13-12.3(chr20:121521-5564937)x3	ADAM33, ADISSP +85 more	Copy number gain	See cases	GPathogenic

ClinVar