"Ambry Genetics"[submitter] AND "PAK3"[gene] - ClinVar

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Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 436144	NM_002578.5(PAK3):c.10G>A (p.Gly4Ser)	PAK3 (G4S)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, X-linked 30 +3 more	GBenign/Likely 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 1663674	NM_002578.5(PAK3):c.237G>A (p.Thr79=)	PAK3	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +1 more	GLikely benign
Select item 589008	NM_002578.5(PAK3):c.264C>T (p.Thr88=)	PAK3	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 590242	NM_002578.5(PAK3):c.276+5G>A	PAK3	Single nucleotide variant (intron variant)	History of neurodevelopmental disorder	GLikely pathogenic
Select item 590215	NM_002578.5(PAK3):c.276+2659T>C	PAK3	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1733758	NM_002578.5(PAK3):c.277-1190C>G	PAK3 (C101W +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 521704	NM_002578.5(PAK3):c.307C>A (p.Gln103Lys)	PAK3 (Q103K +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 367714	NM_002578.5(PAK3):c.483A>G (p.Ala161=)	PAK3	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 589301	NM_002578.5(PAK3):c.525_527del (p.Asp175del)	PAK3 (D175del +3 more)	Deletion (inframe_deletion +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 211837	NM_002578.5(PAK3):c.531G>A (p.Glu177=)	PAK3	Single nucleotide variant (synonymous variant +1 more)	History of neurodevelopmental disorder +3 more	GBenign/Likely benign
Select item 1747066	NM_002578.5(PAK3):c.535G>T (p.Glu179Ter)	PAK3 (E179* +3 more)	Single nucleotide variant (nonsense +1 more)	Inborn genetic diseases	GPathogenic
Select item 1752540	NM_002578.5(PAK3):c.626C>T (p.Ser209Phe)	PAK3 (S209F +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 367717	NM_002578.5(PAK3):c.665C>A (p.Pro222Gln)	PAK3 (P222Q +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GBenign/Likely benign
Select item 1536919	NM_002578.5(PAK3):c.671C>A (p.Ser224Tyr)	PAK3 (S224Y +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GBenign/Likely benign
Select item 720516	NM_002578.5(PAK3):c.691A>T (p.Ser231Cys)	PAK3 (S231C +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1154633	NM_002578.5(PAK3):c.707A>G (p.Asn236Ser)	PAK3 (N236S +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GLikely benign
Select item 588634	NM_002578.5(PAK3):c.717G>A (p.Arg239=)	PAK3	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 588162	NM_002578.5(PAK3):c.780T>C (p.Ser260=)	PAK3	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2276066	NM_002578.5(PAK3):c.866C>A (p.Ala289Glu)	PAK3 (A304E +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1792478	NM_002578.5(PAK3):c.1101C>T (p.Val367=)	PAK3	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 986186	NM_002578.5(PAK3):c.1167G>C (p.Lys389Asn)	PAK3 (K389N +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 129873	NM_002578.5(PAK3):c.1185C>T (p.Leu395=)	PAK3	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GBenign
Select item 2615046	NM_002578.5(PAK3):c.1322C>T (p.Pro441Leu)	PAK3 (P441L +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance

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Items: 24