20364[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	LOC126862060, LOC126862061 +3282 more	Copy number gain	See cases	GPathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	LOC125048449, LOC125048450 +3277 more	Copy number gain	See cases	GPathogenic
Select item 57781	GRCh38/hg38 14q22.3-23.3(chr14:57041036-67208231)x1	ACTR10, AKAP5 +344 more	Copy number loss	See cases	GPathogenic
Select item 57228	GRCh38/hg38 14q23.1-23.3(chr14:59917051-66750803)x1	LOC132090233, LOC132090234 +264 more	Copy number loss	See cases	GPathogenic
Select item 149197	GRCh38/hg38 14q23.2-23.3(chr14:62252700-65753416)x1	AKAP5, CHURC1 +130 more	Copy number loss	See cases	GPathogenic
Select item 2356454	NM_001308147.2(PLEKHG3):c.4C>G (p.Pro2Ala)	PLEKHG3 (P2A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212771	NM_001308147.2(PLEKHG3):c.28G>T (p.Asp10Tyr)	PLEKHG3 (D10Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383740	NM_001308147.2(PLEKHG3):c.43C>T (p.Arg15Trp)	PLEKHG3 (R15W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2569158	NM_001308147.2(PLEKHG3):c.77C>T (p.Ser26Leu)	PLEKHG3 (S26L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214943	NM_001308147.2(PLEKHG3):c.79G>C (p.Gly27Arg)	PLEKHG3 (G27R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459591	NM_001308147.2(PLEKHG3):c.83C>T (p.Ser28Phe)	PLEKHG3 (S28F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3307568	NM_001308147.2(PLEKHG3):c.167G>A (p.Arg56Gln)	PLEKHG3 (R56Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3307571	NM_001308147.2(PLEKHG3):c.187A>G (p.Asn63Asp)	PLEKHG3 (N63D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3307572	NM_001308147.2(PLEKHG3):c.197G>A (p.Ser66Asn)	PLEKHG3 (S66N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211812	NM_001308147.2(PLEKHG3):c.201C>G (p.Ser67Arg)	PLEKHG3 (S67R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313338	NM_001308147.2(PLEKHG3):c.211G>A (p.Val71Met)	PLEKHG3 (V71M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2365897	NM_001308147.2(PLEKHG3):c.241C>T (p.Arg81Trp)	PLEKHG3 (R81W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2644315	NM_001308147.2(PLEKHG3):c.273C>T (p.Leu91=)	PLEKHG3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2306303	NM_001308147.2(PLEKHG3):c.275G>A (p.Ser92Asn)	PLEKHG3 (S92N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214939	NM_001308147.2(PLEKHG3):c.346G>A (p.Val116Met)	PLEKHG3 (V116M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 730603	NM_001308147.2(PLEKHG3):c.351+9C>T	PLEKHG3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 749354	NM_001308147.2(PLEKHG3):c.459C>T (p.Leu153=)	PLEKHG3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 789061	NM_001308147.2(PLEKHG3):c.584C>T (p.Thr195Met)	PLEKHG3 (T195M)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2368443	NM_001308147.2(PLEKHG3):c.595C>T (p.Arg199Trp)	PLEKHG3 (R199W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313084	NM_001308147.2(PLEKHG3):c.688C>T (p.Arg230Cys)	PLEKHG3 (R230C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597108	NM_001308147.2(PLEKHG3):c.760G>T (p.Val254Leu)	PLEKHG3 (V254L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 734630	NM_001308147.2(PLEKHG3):c.849+6C>G	PLEKHG3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2340504	NM_001308147.2(PLEKHG3):c.901G>A (p.Gly301Arg)	PLEKHG3 (G301R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 789062	NM_001308147.2(PLEKHG3):c.928C>T (p.Arg310Cys)	PLEKHG3 (R310C)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2401797	NM_001308147.2(PLEKHG3):c.931G>A (p.Val311Met)	PLEKHG3 (V311M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214941	NM_001308147.2(PLEKHG3):c.937C>T (p.Arg313Cys)	PLEKHG3 (R313C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214942	NM_001308147.2(PLEKHG3):c.938G>A (p.Arg313His)	PLEKHG3 (R313H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287554	NM_001308147.2(PLEKHG3):c.940G>A (p.Val314Met)	PLEKHG3 (V314M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330924	NM_001308147.2(PLEKHG3):c.944G>T (p.Arg315Leu)	PLEKHG3 (R315L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3307565	NM_001308147.2(PLEKHG3):c.1001G>C (p.Gly334Ala)	PLEKHG3 (G334A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536767	NM_001308147.2(PLEKHG3):c.1006C>T (p.His336Tyr)	PLEKHG3 (H336Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313255	NM_001308147.2(PLEKHG3):c.1070C>T (p.Ser357Phe)	PLEKHG3 (S357F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214944	NM_001308147.2(PLEKHG3):c.1091A>C (p.His364Pro)	PLEKHG3 (H364P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214945	NM_001308147.2(PLEKHG3):c.1096A>G (p.Lys366Glu)	PLEKHG3 (K366E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214946	NM_001308147.2(PLEKHG3):c.1162C>T (p.His388Tyr)	PLEKHG3 (H388Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 748423	NM_001308147.2(PLEKHG3):c.1213-7C>T	PLEKHG3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2590186	NM_001308147.2(PLEKHG3):c.1268G>T (p.Ser423Ile)	PLEKHG3 (S423I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274896	NM_001308147.2(PLEKHG3):c.1270C>G (p.Pro424Ala)	PLEKHG3 (P424A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374093	NM_001308147.2(PLEKHG3):c.1295C>T (p.Ser432Phe)	PLEKHG3 (S432F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374025	NM_001308147.2(PLEKHG3):c.1333C>T (p.Arg445Cys)	PLEKHG3 (R445C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 719508	NM_001308147.2(PLEKHG3):c.1435A>G (p.Arg479Gly)	PLEKHG3 (R479G)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2228123	NM_001308147.2(PLEKHG3):c.1484G>C (p.Arg495Pro)	PLEKHG3 (R495P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519998	NM_001308147.2(PLEKHG3):c.1486A>G (p.Met496Val)	PLEKHG3 (M496V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532438	NM_001308147.2(PLEKHG3):c.1522G>A (p.Glu508Lys)	PLEKHG3 (E508K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3307569	NM_001308147.2(PLEKHG3):c.1564G>C (p.Ala522Pro)	PLEKHG3 (A522P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377654	NM_001308147.2(PLEKHG3):c.1592C>T (p.Thr531Met)	PLEKHG3 (T531M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 723688	NM_001308147.2(PLEKHG3):c.1678A>G (p.Met560Val)	PLEKHG3 (M560V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2383533	NM_001308147.2(PLEKHG3):c.1691T>C (p.Val564Ala)	PLEKHG3 (V564A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609104	NM_001308147.2(PLEKHG3):c.1747A>G (p.Met583Val)	PLEKHG3 (M583V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2321773	NM_001308147.2(PLEKHG3):c.1775G>A (p.Ser592Asn)	PLEKHG3 (S592N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 723689	NM_001308147.2(PLEKHG3):c.1810G>A (p.Val604Ile)	PLEKHG3 (V604I)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2508521	NM_001308147.2(PLEKHG3):c.1817C>T (p.Ala606Val)	PLEKHG3 (A606V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455902	NM_001308147.2(PLEKHG3):c.1823G>A (p.Arg608Gln)	PLEKHG3 (R608Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214921	NM_001308147.2(PLEKHG3):c.1844G>A (p.Arg615Gln)	PLEKHG3 (R615Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461801	NM_001308147.2(PLEKHG3):c.1855G>A (p.Val619Met)	PLEKHG3 (V619M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 715666	NM_001308147.2(PLEKHG3):c.1883G>A (p.Gly628Asp)	PLEKHG3 (G628D)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2343847	NM_001308147.2(PLEKHG3):c.1895C>T (p.Pro632Leu)	PLEKHG3 (P632L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225031	NM_001308147.2(PLEKHG3):c.1898G>A (p.Arg633Gln)	PLEKHG3 (R633Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333213	NM_001308147.2(PLEKHG3):c.1910G>A (p.Arg637Gln)	PLEKHG3 (R637Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214922	NM_001308147.2(PLEKHG3):c.1942G>A (p.Glu648Lys)	PLEKHG3 (E648K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461284	NM_001308147.2(PLEKHG3):c.1957C>T (p.Arg653Trp)	PLEKHG3 (R653W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482015	NM_001308147.2(PLEKHG3):c.1978T>C (p.Ser660Pro)	PLEKHG3 (S660P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334992	NM_001308147.2(PLEKHG3):c.2005G>A (p.Val669Met)	PLEKHG3 (V669M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550349	NM_001308147.2(PLEKHG3):c.2021G>A (p.Gly674Glu)	PLEKHG3 (G674E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214924	NM_001308147.2(PLEKHG3):c.2081C>G (p.Pro694Arg)	PLEKHG3 (P694R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214925	NM_001308147.2(PLEKHG3):c.2099C>T (p.Ser700Phe)	PLEKHG3 (S700F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 727165	NM_001308147.2(PLEKHG3):c.2125C>G (p.Leu709Val)	PLEKHG3 (L709V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3214926	NM_001308147.2(PLEKHG3):c.2140C>T (p.Arg714Trp)	PLEKHG3 (R714W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516555	NM_001308147.2(PLEKHG3):c.2152G>A (p.Asp718Asn)	PLEKHG3 (D718N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247707	NM_001308147.2(PLEKHG3):c.2194G>T (p.Ala732Ser)	PLEKHG3 (A732S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457903	NM_001308147.2(PLEKHG3):c.2213G>A (p.Arg738His)	PLEKHG3 (R738H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535786	NM_001308147.2(PLEKHG3):c.2216G>T (p.Arg739Leu)	PLEKHG3 (R739L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214927	NM_001308147.2(PLEKHG3):c.2284C>T (p.Arg762Trp)	PLEKHG3 (R762W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285169	NM_001308147.2(PLEKHG3):c.2375C>T (p.Pro792Leu)	PLEKHG3 (P792L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214928	NM_001308147.2(PLEKHG3):c.2399C>T (p.Pro800Leu)	PLEKHG3 (P800L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375085	NM_001308147.2(PLEKHG3):c.2401C>A (p.Pro801Thr)	PLEKHG3 (P801T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333030	NM_001308147.2(PLEKHG3):c.2441T>C (p.Ile814Thr)	PLEKHG3 (I814T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214929	NM_001308147.2(PLEKHG3):c.2486G>A (p.Gly829Glu)	PLEKHG3 (G829E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592333	NM_001308147.2(PLEKHG3):c.2495C>T (p.Pro832Leu)	PLEKHG3 (P832L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3307573	NM_001308147.2(PLEKHG3):c.2497G>C (p.Gly833Arg)	PLEKHG3 (G833R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 791186	NM_001308147.2(PLEKHG3):c.2524C>G (p.Leu842Val)	PLEKHG3 (L842V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2529200	NM_001308147.2(PLEKHG3):c.2573C>A (p.Thr858Lys)	PLEKHG3 (T858K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214930	NM_001308147.2(PLEKHG3):c.2582C>T (p.Ser861Leu)	PLEKHG3 (S861L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386866	NM_001308147.2(PLEKHG3):c.2597C>G (p.Pro866Arg)	PLEKHG3 (P866R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 748456	NM_001308147.2(PLEKHG3):c.2604C>T (p.Ser868=)	PLEKHG3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3307570	NM_001308147.2(PLEKHG3):c.2624G>A (p.Arg875His)	PLEKHG3 (R875H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214931	NM_001308147.2(PLEKHG3):c.2630C>T (p.Pro877Leu)	PLEKHG3 (P877L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214932	NM_001308147.2(PLEKHG3):c.2645G>A (p.Arg882Gln)	PLEKHG3 (R882Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214933	NM_001308147.2(PLEKHG3):c.2678G>A (p.Ser893Asn)	PLEKHG3 (S893N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 746847	NM_001308147.2(PLEKHG3):c.2691G>A (p.Gly897=)	PLEKHG3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2360843	NM_001308147.2(PLEKHG3):c.2716C>T (p.Arg906Cys)	PLEKHG3 (R906C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222109	NM_001308147.2(PLEKHG3):c.2737G>A (p.Val913Ile)	PLEKHG3 (V913I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508298	NM_001308147.2(PLEKHG3):c.2764G>A (p.Val922Ile)	PLEKHG3 (V922I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355963	NM_001308147.2(PLEKHG3):c.2771A>C (p.Asn924Thr)	PLEKHG3 (N924T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 719509	NM_001308147.2(PLEKHG3):c.2784G>A (p.Gln928=)	PLEKHG3	Single nucleotide variant (synonymous variant)	not provided	GBenign

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