"GeneDx"[submitter] AND "LOC130068032"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58609	GRCh38/hg38 Xp22.12(chrX:19624798-20573750)x3	BCLAF3, EIF1AX +45 more	Copy number gain	See cases	GPathogenic
Select item 58610	GRCh38/hg38 Xp22.12(chrX:19878110-20395102)x3	BCLAF3, EIF1AX +26 more	Copy number gain	See cases	GPathogenic
Select item 60287	GRCh38/hg38 Xp22.12(chrX:20253700-20351706)x2	LOC125446274, LOC130068031 +3 more	Copy number gain	See cases	GUncertain significance
Select item 1188290	NM_004586.3(RPS6KA3):c.62G>T (p.Ser21Ile)	LOC130068032, RPS6KA3 (S21I)	Single nucleotide variant (missense variant)	Coffin-Lowry syndrome +2 more	GUncertain significance
Select item 2662267	NM_004586.3(RPS6KA3):c.56C>G (p.Ser19Cys)	LOC130068032, RPS6KA3 (S19C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1223231	NM_004586.3(RPS6KA3):c.48G>C (p.Glu16Asp)	LOC130068032, RPS6KA3 (E16D)	Single nucleotide variant (missense variant)	Coffin-Lowry syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1579041	NM_004586.3(RPS6KA3):c.17T>C (p.Leu6Pro)	LOC130068032, RPS6KA3 (L6P)	Single nucleotide variant (missense variant)	Coffin-Lowry syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1712597	NM_004586.3(RPS6KA3):c.4C>A (p.Pro2Thr)	LOC130068032, RPS6KA3 (P2T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

ClinVar