Related gene-specific medical variations for Gene (Select 5063) - ClinVar

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Links from Gene

Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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
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 3360345	NM_002578.5(PAK3):c.1175A>C (p.Asn392Thr)	PAK3 (N392T +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3359519	NM_002578.5(PAK3):c.845T>C (p.Val282Ala)	PAK3 (V282A +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3359067	NM_002578.5(PAK3):c.1266G>T (p.Met422Ile)	PAK3 (M443I +3 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, X-linked 30	GUncertain significance
Select item 3251947	NM_002578.5(PAK3):c.276+1G>T	PAK3	Single nucleotide variant (splice donor variant)	Intellectual disability, X-linked 30	GLikely pathogenic
Select item 3246551	NC_000023.10:g.(?_110385304)_(110463675_?)dup	PAK3	Duplication	not provided	GUncertain significance
Select item 3238768	NM_002578.5(PAK3):c.600+1G>C	PAK3	Single nucleotide variant (splice donor variant)	Intellectual disability, X-linked 30	GLikely pathogenic
Select item 2576157	NM_002578.5(PAK3):c.1408-1G>C	PAK3	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
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 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 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 1907505	NM_002578.5(PAK3):c.175+17C>T	LOC130068562, PAK3	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1776581	NM_002578.5(PAK3):c.161G>T (p.Gly54Val)	LOC130068562, PAK3 (G54V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1696511	NM_001128166.3(PAK3):c.-30G>C	PAK3	Single nucleotide variant (5 prime UTR variant +1 more)	Intellectual disability, X-linked 30	GUncertain significance
Select item 1526843	GRCh37/hg19 Xq23(chrX:110254845-110258249)	PAK3	Copy number loss	not specified	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 914023	NM_002578.5(PAK3):c.-470G>T	LOC130068561, PAK3	Single nucleotide variant (5 prime UTR variant +2 more)	Intellectual disability, X-linked 30	GUncertain significance
Select item 914022	NM_002578.5(PAK3):c.-473G>C	LOC130068561, PAK3	Single nucleotide variant (5 prime UTR variant +2 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 914021	NM_002578.5(PAK3):c.-492G>A	LOC130068561, PAK3	Single nucleotide variant (5 prime UTR variant +2 more)	Intellectual disability, X-linked 30	GBenign
Select item 816380	GRCh37/hg19 Xq23(chrX:110041925-110324726)x3	PAK3	Copy number gain	not provided	GUncertain significance
Select item 686224	GRCh37/hg19 Xq23(chrX:110254845-110258249)x1	PAK3	Copy number loss	not provided	GUncertain significance

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Links from Gene

Items: 22