"GeneDx"[submitter] AND "RSPO2"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144949	GRCh38/hg38 8q22.1-24.3(chr8:94682154-145068656)x3	LOC130000908, LOC130000909 +1406 more	Copy number gain	See cases	GPathogenic
Select item 1270815	NM_178565.5(RSPO2):c.617-168ATT[3]	RSPO2	Microsatellite (intron variant)	not provided	GBenign
Select item 1230819	NM_178565.5(RSPO2):c.616+42_616+43dup	RSPO2	Duplication (intron variant)	Humerofemoral hypoplasia with radiotibial ray deficiency +2 more	GBenign
Select item 1280490	NM_178565.5(RSPO2):c.557T>C (p.Leu186Pro)	RSPO2 (L119P +2 more)	Single nucleotide variant (missense variant)	Tetraamelia syndrome 2 +2 more	GBenign
Select item 1283191	NM_178565.5(RSPO2):c.283+86A>T	RSPO2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1246952	NM_178565.5(RSPO2):c.95-154A>C	RSPO2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1183697	NM_178565.5(RSPO2):c.94+26G>A	RSPO2, LOC124174315	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1183207	NM_178565.5(RSPO2):c.-138A>G	RSPO2	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign

ClinVar