"GeneDx"[submitter] AND "CAP2"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2443481	NM_006366.3(CAP2):c.155T>C (p.Leu52Pro)	CAP2 (L52P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1706815	NM_006366.3(CAP2):c.406G>A (p.Val136Ile)	LOC101928491, CAP2 (V110I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2443482	NM_006366.3(CAP2):c.608A>G (p.His203Arg)	CAP2 (H177R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1707067	NM_006366.3(CAP2):c.1091T>C (p.Ile364Thr)	CAP2 (I252T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1343838	NM_006366.3(CAP2):c.1137A>G (p.Lys379=)	CAP2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 253526	GRCh37/hg19 6p25.3-22.3(chr6:168775-24023234)x3	STMND1, SYCP2L +95 more	Copy number gain	See cases	GPathogenic
Select item 253430	GRCh37/hg19 6p25.1-22.3(chr6:5354402-17950079)x1	ADTRP, ATXN1 +51 more	Copy number loss	See cases	GPathogenic

ClinVar