"Revvity Omics, Revvity"[submitter] AND "PAK3"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2434574	NM_002578.5(PAK3):c.233A>G (p.His78Arg)	PAK3 (H78R)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, X-linked 30	GUncertain significance
Select item 1632107	NM_002578.5(PAK3):c.447A>T (p.Gly149=)	PAK3	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2434572	NM_002578.5(PAK3):c.490C>T (p.Pro164Ser)	PAK3 (P164S +3 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, X-linked 30	GUncertain significance
Select item 522789	NM_002578.5(PAK3):c.534AGA[4] (p.Glu182del)	PAK3 (E182del +3 more)	Microsatellite (inframe_deletion +1 more)	Intellectual disability, X-linked 30 +1 more	GUncertain significance
Select item 1699201	NM_002578.5(PAK3):c.1004G>A (p.Gly335Asp)	PAK3 (G335D +3 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, X-linked 30	GUncertain significance
Select item 2434573	NM_002578.5(PAK3):c.1216T>C (p.Phe406Leu)	PAK3 (F406L +3 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, X-linked 30	GUncertain significance
Select item 431711	NM_002578.5(PAK3):c.1579A>G (p.Ser527Gly)	PAK3 (S527G +3 more)	Single nucleotide variant (missense variant +1 more)	PAK3-related disorder +3 more	GConflicting classifications of pathogenicity

ClinVar