PAK4[gene] - ClinVar

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Items: 52

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144406	GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	ABHD8, ACP5 +2135 more	Copy number gain	See cases	GPathogenic
Select item 57043	GRCh38/hg38 19q13.12-13.2(chr19:37319377-42738688)x3	ACP7, ACTMAP +514 more	Copy number gain	See cases	GPathogenic
Select item 2244983	NM_005884.5(PAK4):c.14G>C (p.Arg5Thr)	PAK4 (R5T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208043	NM_005884.5(PAK4):c.37G>T (p.Ala13Ser)	PAK4 (A13S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550896	NM_005884.5(PAK4):c.38C>T (p.Ala13Val)	PAK4 (A13V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 981811	NM_005884.5(PAK4):c.61G>A (p.Val21Met)	PAK4 (V21M)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome	GUncertain significance
Select item 2331226	NM_005884.5(PAK4):c.98C>T (p.Thr33Met)	PAK4 (T33M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329826	NM_005884.5(PAK4):c.227G>A (p.Gly76Asp)	PAK4 (G76D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2459743	NM_005884.5(PAK4):c.262G>A (p.Glu88Lys)	PAK4 (E88K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3208041	NM_005884.5(PAK4):c.320C>T (p.Pro107Leu)	PAK4 (P107L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2241979	NM_005884.5(PAK4):c.326C>A (p.Ala109Asp)	PAK4 (A109D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2351826	NM_005884.5(PAK4):c.329G>A (p.Arg110His)	PAK4 (R110H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2337350	NM_005884.5(PAK4):c.362C>T (p.Pro121Leu)	PAK4 (P121L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3208042	NM_005884.5(PAK4):c.374C>A (p.Ala125Asp)	PAK4 (A125D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3208044	NM_005884.5(PAK4):c.439G>A (p.Gly147Ser)	PAK4 (G147S)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2247374	NM_005884.5(PAK4):c.477G>T (p.Arg159Ser)	PAK4 (R159S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2602191	NM_005884.5(PAK4):c.607C>T (p.Arg203Trp)	PAK4 (R203W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2557023	NM_005884.5(PAK4):c.653G>A (p.Arg218Gln)	PAK4 (R218Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2239849	NM_005884.5(PAK4):c.659C>T (p.Ala220Val)	PAK4 (A220V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2546689	NM_005884.5(PAK4):c.669G>C (p.Glu223Asp)	PAK4 (E223D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338304	NM_005884.5(PAK4):c.683C>T (p.Ala228Val)	PAK4 (A228V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208045	NM_005884.5(PAK4):c.688A>G (p.Asn230Asp)	PAK4 (N77D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208046	NM_005884.5(PAK4):c.695C>T (p.Pro232Leu)	PAK4 (P79L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2486950	NM_005884.5(PAK4):c.709C>G (p.Leu237Val)	PAK4 (L237V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208047	NM_005884.5(PAK4):c.731C>T (p.Ser244Phe)	PAK4 (S244F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208048	NM_005884.5(PAK4):c.740C>T (p.Ser247Phe)	PAK4 (S247F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296094	NM_005884.5(PAK4):c.818C>A (p.Pro273His)	PAK4 (P120H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402459	NM_005884.5(PAK4):c.868C>T (p.Arg290Cys)	PAK4 (R137C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509615	NM_005884.5(PAK4):c.869G>A (p.Arg290His)	PAK4 (R137H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282681	NM_005884.5(PAK4):c.893G>A (p.Arg298Gln)	PAK4 (R145Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487995	NM_005884.5(PAK4):c.953G>A (p.Arg318His)	PAK4 (R165H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322634	NM_005884.5(PAK4):c.1028C>T (p.Ser343Leu)	PAK4 (S190L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542794	NM_005884.5(PAK4):c.1195G>C (p.Glu399Gln)	PAK4 (E246Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3064062	NM_005884.5(PAK4):c.1217T>C (p.Ile406Thr)	PAK4 (I253T +1 more)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 3208040	NM_005884.5(PAK4):c.1278G>C (p.Gln426His)	PAK4 (Q273H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277617	NM_005884.5(PAK4):c.1300C>G (p.Gln434Glu)	PAK4 (Q434E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2649829	NM_005884.5(PAK4):c.1423C>T (p.Leu475=)	PAK4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 161494	NM_005884.5(PAK4):c.1504G>C (p.Gly502Arg)	PAK4 (G502R +1 more)	Single nucleotide variant (missense variant)	Malignant tumor of prostate	GUncertain significance
Select item 2378985	NM_005884.5(PAK4):c.1531G>A (p.Gly511Arg)	PAK4 (G358R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606756	NM_005884.5(PAK4):c.1574A>G (p.Lys525Arg)	PAK4 (K525R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2649830	NM_005884.5(PAK4):c.1663C>G (p.Arg555Gly)	PAK4 (R402G +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 771036	NM_005884.5(PAK4):c.1717G>T (p.Ala573Ser)	PAK4 (A420S +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3064061	NM_005884.5(PAK4):c.1730C>T (p.Pro577Leu)	PAK4 (P424L +1 more)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 3062386	GRCh37/hg19 19q11-13.2(chr19:28271146-41508851)x3	SLC7A9, SNRPA +215 more	Copy number gain	not specified	GPathogenic
Select item 2685637	GRCh37/hg19 19q13.2(chr19:39549605-39732047)x1	ACP7, NCCRP1 +2 more	Copy number loss	not provided	GUncertain significance
Select item 2424211	NC_000019.9:g.(?_39205089)_(40913839_?)dup	ACP7, ACTN4 +53 more	Duplication	not provided	GUncertain significance
Select item 2423269	NC_000019.9:g.(?_38375572)_(39738787_?)dup	ACP7, ACTN4 +34 more	Duplication	RYR1-related disorder	GUncertain significance
Select item 1330177	GRCh37/hg19 19p13.11-q13.2(chr19:19546923-41313229)x3	ACP7, ACTMAP +255 more	Copy number gain	Specific learning disability	GPathogenic
Select item 685025	GRCh37/hg19 19q11-13.33(chr19:28271106-49213832)x3	ACP7, ACTMAP +434 more	Copy number gain	not provided	GPathogenic
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	BICRA, BLOC1S3 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	A1BG, ABCA7 +1364 more	Copy number gain	See cases	GPathogenic
Select item 253452	GRCh37/hg19 19q13.12-13.2(chr19:37582250-41630908)x3	DPF1, DYRK1B +105 more	Copy number gain	See cases	GPathogenic

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Items: 52