"PAK1-related condition"[Disease/phenotype] AND "PreventionGenetics, p - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3034477	NM_002576.5(PAK1):c.1536T>C (p.Ala512=)	PAK1	Single nucleotide variant (synonymous variant +2 more)	PAK1-related condition	GLikely benign
Select item 2642184	NM_002576.5(PAK1):c.1284A>T (p.Pro428=)	PAK1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 3061513	NM_002576.5(PAK1):c.1226del (p.Gly409fs)	PAK1 (G311fs +6 more)	Deletion (frameshift variant +2 more)	PAK1-related condition	GUncertain significance
Select item 3054709	NM_002576.5(PAK1):c.1189T>C (p.Leu397=)	PAK1	Single nucleotide variant (non-coding transcript variant +2 more)	PAK1-related condition	GLikely benign
Select item 1282238	NM_002576.5(PAK1):c.1116+8C>G	PAK1	Single nucleotide variant (intron variant)	Intellectual developmental disorder with macrocephaly, seizures, and speech delay +2 more	GBenign
Select item 2642186	NM_002576.5(PAK1):c.708C>T (p.Thr236=)	PAK1	Single nucleotide variant (synonymous variant +2 more)	PAK1-related condition +1 more	GLikely benign
Select item 2642187	NM_002576.5(PAK1):c.533ATG[7] (p.Asp183_Ala184insAsp)	PAK1	Microsatellite (inframe_insertion +1 more)	PAK1-related condition +1 more	GLikely benign
Select item 3061421	NM_002576.5(PAK1):c.427A>G (p.Met143Val)	PAK1 (M143V +2 more)	Single nucleotide variant (missense variant +2 more)	PAK1-related condition	GUncertain significance
Select item 973272	NM_002576.5(PAK1):c.362C>T (p.Pro121Leu)	PAK1 (P128L +2 more)	Single nucleotide variant (missense variant +2 more)	PAK1-related condition +2 more	GPathogenic
Select item 713352	NM_002576.5(PAK1):c.357A>G (p.Lys119=)	PAK1	Single nucleotide variant (synonymous variant +2 more)	PAK1-related condition +1 more	GBenign
Select item 712103	NM_002576.5(PAK1):c.345G>A (p.Ser115=)	PAK1	Single nucleotide variant (synonymous variant +2 more)	PAK1-related condition +1 more	GBenign
Select item 3038097	NM_002576.5(PAK1):c.291G>A (p.Thr97=)	PAK1	Single nucleotide variant (synonymous variant +3 more)	PAK1-related condition	GBenign
Select item 3042598	NM_002576.5(PAK1):c.262G>A (p.Gly88Ser)	PAK1 (G88S)	Single nucleotide variant (missense variant +3 more)	PAK1-related condition	GLikely pathogenic