"GeneDx"[submitter] AND "LOC130068562"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 145168	GRCh38/hg38 Xq21.1-28(chrX:78605009-156016560)x1	LOC125467786, LOC125467787 +1203 more	Copy number loss	See cases	GPathogenic
Select item 58661	GRCh38/hg38 Xq21.1-25(chrX:81261589-126519353)x3	LOC126863293, LOC126863294 +478 more	Copy number gain	See cases	GPathogenic
Select item 60353	GRCh38/hg38 Xq23(chrX:110874013-111175998)x3	LOC130068561, LOC130068562 +1 more	Copy number gain	See cases	GUncertain significance
Select item 3372739	NM_002578.5(PAK3):c.145C>A (p.Arg49Ser)	LOC130068562, PAK3 (R49S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1211944	NM_002578.5(PAK3):c.145C>T (p.Arg49Cys)	LOC130068562, PAK3 (R49C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3378374	NM_002578.5(PAK3):c.146G>A (p.Arg49His)	LOC130068562, PAK3 (R49H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance

ClinVar