"Ambry Genetics"[submitter] AND "PLEKHG3"[gene] - ClinVar

Search results

Items: 82

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2356454	NM_001308147.2(PLEKHG3):c.4C>G (p.Pro2Ala)	PLEKHG3 (P2A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2212771	NM_001308147.2(PLEKHG3):c.28G>T (p.Asp10Tyr)	PLEKHG3 (D10Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2383740	NM_001308147.2(PLEKHG3):c.43C>T (p.Arg15Trp)	PLEKHG3 (R15W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2569158	NM_001308147.2(PLEKHG3):c.77C>T (p.Ser26Leu)	PLEKHG3 (S26L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2459591	NM_001308147.2(PLEKHG3):c.83C>T (p.Ser28Phe)	PLEKHG3 (S28F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2211812	NM_001308147.2(PLEKHG3):c.201C>G (p.Ser67Arg)	PLEKHG3 (S67R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2313338	NM_001308147.2(PLEKHG3):c.211G>A (p.Val71Met)	PLEKHG3 (V71M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2365897	NM_001308147.2(PLEKHG3):c.241C>T (p.Arg81Trp)	PLEKHG3 (R81W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2306303	NM_001308147.2(PLEKHG3):c.275G>A (p.Ser92Asn)	PLEKHG3 (S92N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2368443	NM_001308147.2(PLEKHG3):c.595C>T (p.Arg199Trp)	PLEKHG3 (R199W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2313084	NM_001308147.2(PLEKHG3):c.688C>T (p.Arg230Cys)	PLEKHG3 (R230C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2597108	NM_001308147.2(PLEKHG3):c.760G>T (p.Val254Leu)	PLEKHG3 (V254L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2340504	NM_001308147.2(PLEKHG3):c.901G>A (p.Gly301Arg)	PLEKHG3 (G301R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2401797	NM_001308147.2(PLEKHG3):c.931G>A (p.Val311Met)	PLEKHG3 (V311M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2287554	NM_001308147.2(PLEKHG3):c.940G>A (p.Val314Met)	PLEKHG3 (V314M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2330924	NM_001308147.2(PLEKHG3):c.944G>T (p.Arg315Leu)	PLEKHG3 (R315L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2536767	NM_001308147.2(PLEKHG3):c.1006C>T (p.His336Tyr)	PLEKHG3 (H336Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2313255	NM_001308147.2(PLEKHG3):c.1070C>T (p.Ser357Phe)	PLEKHG3 (S357F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2590186	NM_001308147.2(PLEKHG3):c.1268G>T (p.Ser423Ile)	PLEKHG3 (S423I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2274896	NM_001308147.2(PLEKHG3):c.1270C>G (p.Pro424Ala)	PLEKHG3 (P424A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2374093	NM_001308147.2(PLEKHG3):c.1295C>T (p.Ser432Phe)	PLEKHG3 (S432F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2374025	NM_001308147.2(PLEKHG3):c.1333C>T (p.Arg445Cys)	PLEKHG3 (R445C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2228123	NM_001308147.2(PLEKHG3):c.1484G>C (p.Arg495Pro)	PLEKHG3 (R495P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2519998	NM_001308147.2(PLEKHG3):c.1486A>G (p.Met496Val)	PLEKHG3 (M496V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2532438	NM_001308147.2(PLEKHG3):c.1522G>A (p.Glu508Lys)	PLEKHG3 (E508K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2377654	NM_001308147.2(PLEKHG3):c.1592C>T (p.Thr531Met)	PLEKHG3 (T531M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2383533	NM_001308147.2(PLEKHG3):c.1691T>C (p.Val564Ala)	PLEKHG3 (V564A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2609104	NM_001308147.2(PLEKHG3):c.1747A>G (p.Met583Val)	PLEKHG3 (M583V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2321773	NM_001308147.2(PLEKHG3):c.1775G>A (p.Ser592Asn)	PLEKHG3 (S592N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2508521	NM_001308147.2(PLEKHG3):c.1817C>T (p.Ala606Val)	PLEKHG3 (A606V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2455902	NM_001308147.2(PLEKHG3):c.1823G>A (p.Arg608Gln)	PLEKHG3 (R608Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2461801	NM_001308147.2(PLEKHG3):c.1855G>A (p.Val619Met)	PLEKHG3 (V619M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2343847	NM_001308147.2(PLEKHG3):c.1895C>T (p.Pro632Leu)	PLEKHG3 (P632L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2225031	NM_001308147.2(PLEKHG3):c.1898G>A (p.Arg633Gln)	PLEKHG3 (R633Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2333213	NM_001308147.2(PLEKHG3):c.1910G>A (p.Arg637Gln)	PLEKHG3 (R637Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2461284	NM_001308147.2(PLEKHG3):c.1957C>T (p.Arg653Trp)	PLEKHG3 (R653W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2482015	NM_001308147.2(PLEKHG3):c.1978T>C (p.Ser660Pro)	PLEKHG3 (S660P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2334992	NM_001308147.2(PLEKHG3):c.2005G>A (p.Val669Met)	PLEKHG3 (V669M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2550349	NM_001308147.2(PLEKHG3):c.2021G>A (p.Gly674Glu)	PLEKHG3 (G674E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2516555	NM_001308147.2(PLEKHG3):c.2152G>A (p.Asp718Asn)	PLEKHG3 (D718N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2247707	NM_001308147.2(PLEKHG3):c.2194G>T (p.Ala732Ser)	PLEKHG3 (A732S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2457903	NM_001308147.2(PLEKHG3):c.2213G>A (p.Arg738His)	PLEKHG3 (R738H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2535786	NM_001308147.2(PLEKHG3):c.2216G>T (p.Arg739Leu)	PLEKHG3 (R739L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2285169	NM_001308147.2(PLEKHG3):c.2375C>T (p.Pro792Leu)	PLEKHG3 (P792L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2375085	NM_001308147.2(PLEKHG3):c.2401C>A (p.Pro801Thr)	PLEKHG3 (P801T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2333030	NM_001308147.2(PLEKHG3):c.2441T>C (p.Ile814Thr)	PLEKHG3 (I814T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2592333	NM_001308147.2(PLEKHG3):c.2495C>T (p.Pro832Leu)	PLEKHG3 (P832L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2529200	NM_001308147.2(PLEKHG3):c.2573C>A (p.Thr858Lys)	PLEKHG3 (T858K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2386866	NM_001308147.2(PLEKHG3):c.2597C>G (p.Pro866Arg)	PLEKHG3 (P866R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2360843	NM_001308147.2(PLEKHG3):c.2716C>T (p.Arg906Cys)	PLEKHG3 (R906C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2222109	NM_001308147.2(PLEKHG3):c.2737G>A (p.Val913Ile)	PLEKHG3 (V913I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2508298	NM_001308147.2(PLEKHG3):c.2764G>A (p.Val922Ile)	PLEKHG3 (V922I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2355963	NM_001308147.2(PLEKHG3):c.2771A>C (p.Asn924Thr)	PLEKHG3 (N924T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2364928	NM_001308147.2(PLEKHG3):c.2792G>A (p.Arg931His)	PLEKHG3 (R931H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2496475	NM_001308147.2(PLEKHG3):c.2867C>A (p.Pro956His)	PLEKHG3 (P956H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2538919	NM_001308147.2(PLEKHG3):c.2924C>G (p.Pro975Arg)	PLEKHG3 (P975R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2530220	NM_001308147.2(PLEKHG3):c.2974G>A (p.Glu992Lys)	PLEKHG3 (E992K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2217182	NM_001308147.2(PLEKHG3):c.2975A>G (p.Glu992Gly)	PLEKHG3 (E992G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2396073	NM_001308147.2(PLEKHG3):c.3055C>T (p.Pro1019Ser)	PLEKHG3 (P1019S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2309494	NM_001308147.2(PLEKHG3):c.3088G>T (p.Gly1030Trp)	PLEKHG3 (G1030W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2548363	NM_001308147.2(PLEKHG3):c.3103G>A (p.Ala1035Thr)	PLEKHG3 (A1035T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2403678	NM_001308147.2(PLEKHG3):c.3113C>T (p.Pro1038Leu)	PLEKHG3 (P1038L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2298655	NM_001308147.2(PLEKHG3):c.3125C>T (p.Thr1042Ile)	PLEKHG3 (T1042I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2603095	NM_001308147.2(PLEKHG3):c.3144C>T (p.Pro1048=)	PLEKHG3	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 2260037	NM_001308147.2(PLEKHG3):c.3151C>T (p.Arg1051Cys)	PLEKHG3 (R1051C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2221002	NM_001308147.2(PLEKHG3):c.3205G>A (p.Gly1069Ser)	PLEKHG3 (G1069S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2240116	NM_001308147.2(PLEKHG3):c.3214C>T (p.Arg1072Cys)	PLEKHG3 (R1072C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2214375	NM_001308147.2(PLEKHG3):c.3226G>A (p.Val1076Ile)	PLEKHG3 (V1076I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2589857	NM_001308147.2(PLEKHG3):c.3275C>T (p.Ser1092Leu)	PLEKHG3 (S1092L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2558381	NM_001308147.2(PLEKHG3):c.3278G>T (p.Gly1093Val)	PLEKHG3 (G1093V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2346151	NM_001308147.2(PLEKHG3):c.3290G>A (p.Arg1097His)	PLEKHG3 (R1097H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2238148	NM_001308147.2(PLEKHG3):c.3295C>T (p.Arg1099Cys)	PLEKHG3 (R1099C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2477385	NM_001308147.2(PLEKHG3):c.3296G>A (p.Arg1099His)	PLEKHG3 (R1099H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2364789	NM_001308147.2(PLEKHG3):c.3316G>A (p.Gly1106Ser)	PLEKHG3 (G1106S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2208245	NM_001308147.2(PLEKHG3):c.3320G>A (p.Arg1107Gln)	PLEKHG3 (R1107Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2553177	NM_001308147.2(PLEKHG3):c.3407T>A (p.Leu1136His)	PLEKHG3 (L1136H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2389941	NM_001308147.2(PLEKHG3):c.3500C>T (p.Pro1167Leu)	PLEKHG3 (P1167L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 736196	NM_001308147.2(PLEKHG3):c.3508C>T (p.Pro1170Ser)	PLEKHG3 (P1170S)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2246463	NM_001355436.2(SPTB):c.6880C>G (p.Arg2294Gly)	PLEKHG3, SPTB (R2294G)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2508931	NM_001355436.2(SPTB):c.6866A>C (p.Glu2289Ala)	PLEKHG3, SPTB (E2289A)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2507704	NM_001355436.2(SPTB):c.6757A>C (p.Lys2253Gln)	PLEKHG3, SPTB (K2253Q)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2524717	NM_001355436.2(SPTB):c.6734T>C (p.Ile2245Thr)	PLEKHG3, SPTB (I2245T)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance

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Items: 82