ClinVar for Gene (Select 26030) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 1 to 100 of 164

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3307572	NM_001308147.2(PLEKHG3):c.197G>A (p.Ser66Asn)	PLEKHG3 (S66N)	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 3307570	NM_001308147.2(PLEKHG3):c.2624G>A (p.Arg875His)	PLEKHG3 (R875H)	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 3307568	NM_001308147.2(PLEKHG3):c.167G>A (p.Arg56Gln)	PLEKHG3 (R56Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3307566	NM_001308147.2(PLEKHG3):c.3152G>A (p.Arg1051His)	PLEKHG3 (R1051H)	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 3233797	NM_001355436.2(SPTB):c.6716G>A (p.Arg2239Lys)	PLEKHG3, SPTB (R2239K)	Single nucleotide variant (3 prime UTR variant +1 more)	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 3214945	NM_001308147.2(PLEKHG3):c.1096A>G (p.Lys366Glu)	PLEKHG3 (K366E)	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 3214943	NM_001308147.2(PLEKHG3):c.79G>C (p.Gly27Arg)	PLEKHG3 (G27R)	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 3214941	NM_001308147.2(PLEKHG3):c.937C>T (p.Arg313Cys)	PLEKHG3 (R313C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214940	NM_001308147.2(PLEKHG3):c.3645G>T (p.Leu1215Phe)	PLEKHG3 (L1215F)	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 3214938	NM_001308147.2(PLEKHG3):c.3524G>A (p.Gly1175Glu)	PLEKHG3 (G1175E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214937	NM_001308147.2(PLEKHG3):c.3190C>T (p.Arg1064Cys)	PLEKHG3 (R1064C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214936	NM_001308147.2(PLEKHG3):c.2867C>T (p.Pro956Leu)	PLEKHG3 (P956L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214934	NM_001308147.2(PLEKHG3):c.2791C>A (p.Arg931Ser)	PLEKHG3 (R931S)	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 3214932	NM_001308147.2(PLEKHG3):c.2645G>A (p.Arg882Gln)	PLEKHG3 (R882Q)	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 3214930	NM_001308147.2(PLEKHG3):c.2582C>T (p.Ser861Leu)	PLEKHG3 (S861L)	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 3214928	NM_001308147.2(PLEKHG3):c.2399C>T (p.Pro800Leu)	PLEKHG3 (P800L)	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 3214926	NM_001308147.2(PLEKHG3):c.2140C>T (p.Arg714Trp)	PLEKHG3 (R714W)	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 3214924	NM_001308147.2(PLEKHG3):c.2081C>G (p.Pro694Arg)	PLEKHG3 (P694R)	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 3214921	NM_001308147.2(PLEKHG3):c.1844G>A (p.Arg615Gln)	PLEKHG3 (R615Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169525	NM_001355436.2(SPTB):c.6925G>A (p.Asp2309Asn)	PLEKHG3, SPTB (D2309N)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3059908	NM_001355436.2(SPTB):c.6831G>A (p.Leu2277=)	PLEKHG3, SPTB	Single nucleotide variant (3 prime UTR variant +1 more)	SPTB-related disorder	GLikely benign
Select item 2921196	NM_001355436.2(SPTB):c.6724_6726dup (p.Ile2242_Cys2243insIle)	PLEKHG3, SPTB	Duplication (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2690138	NM_001355436.2(SPTB):c.6627G>C (p.Val2209=)	PLEKHG3, SPTB	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2684728	GRCh37/hg19 14q23.1-32.33(chr14:58894502-107227240)x3	CCNK, MIR376A1 +353 more	Copy number gain	not provided	GPathogenic
Select item 2684726	GRCh37/hg19 14q22.3-24.1(chr14:57588965-68334517)x3	ACTR10, AKAP5 +71 more	Copy number gain	not provided	GLikely pathogenic
Select item 2644316	NM_001308147.2(PLEKHG3):c.3510G>T (p.Pro1170=)	PLEKHG3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2644315	NM_001308147.2(PLEKHG3):c.273C>T (p.Leu91=)	PLEKHG3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2603095	NM_001308147.2(PLEKHG3):c.3144C>T (p.Pro1048=)	PLEKHG3	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
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 2592333	NM_001308147.2(PLEKHG3):c.2495C>T (p.Pro832Leu)	PLEKHG3 (P832L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2589857	NM_001308147.2(PLEKHG3):c.3275C>T (p.Ser1092Leu)	PLEKHG3 (S1092L)	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 2558381	NM_001308147.2(PLEKHG3):c.3278G>T (p.Gly1093Val)	PLEKHG3 (G1093V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553177	NM_001308147.2(PLEKHG3):c.3407T>A (p.Leu1136His)	PLEKHG3 (L1136H)	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 2548363	NM_001308147.2(PLEKHG3):c.3103G>A (p.Ala1035Thr)	PLEKHG3 (A1035T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538919	NM_001308147.2(PLEKHG3):c.2924C>G (p.Pro975Arg)	PLEKHG3 (P975R)	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 2535786	NM_001308147.2(PLEKHG3):c.2216G>T (p.Arg739Leu)	PLEKHG3 (R739L)	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 2530220	NM_001308147.2(PLEKHG3):c.2974G>A (p.Glu992Lys)	PLEKHG3 (E992K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 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
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 2516555	NM_001308147.2(PLEKHG3):c.2152G>A (p.Asp718Asn)	PLEKHG3 (D718N)	Single nucleotide variant (missense variant)	not specified	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 2508521	NM_001308147.2(PLEKHG3):c.1817C>T (p.Ala606Val)	PLEKHG3 (A606V)	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 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 2496475	NM_001308147.2(PLEKHG3):c.2867C>A (p.Pro956His)	PLEKHG3 (P956H)	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 2477385	NM_001308147.2(PLEKHG3):c.3296G>A (p.Arg1099His)	PLEKHG3 (R1099H)	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 2461284	NM_001308147.2(PLEKHG3):c.1957C>T (p.Arg653Trp)	PLEKHG3 (R653W)	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 2457903	NM_001308147.2(PLEKHG3):c.2213G>A (p.Arg738His)	PLEKHG3 (R738H)	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 2436443	NM_001355436.2(SPTB):c.6748AAG[3] (p.Lys2253del)	PLEKHG3, SPTB (K2253del)	Microsatellite (inframe_deletion +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 2436418	NM_001355436.2(SPTB):c.6937G>A (p.Gly2313Ser)	PLEKHG3, SPTB (G2313S)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2428689	NM_001308147.2(PLEKHG3):c.*5935G>C	PLEKHG3, SPTB	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2403678	NM_001308147.2(PLEKHG3):c.3113C>T (p.Pro1038Leu)	PLEKHG3 (P1038L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2396073	NM_001308147.2(PLEKHG3):c.3055C>T (p.Pro1019Ser)	PLEKHG3 (P1019S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389941	NM_001308147.2(PLEKHG3):c.3500C>T (p.Pro1167Leu)	PLEKHG3 (P1167L)	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 2383740	NM_001308147.2(PLEKHG3):c.43C>T (p.Arg15Trp)	PLEKHG3 (R15W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2377654	NM_001308147.2(PLEKHG3):c.1592C>T (p.Thr531Met)	PLEKHG3 (T531M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 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 2368443	NM_001308147.2(PLEKHG3):c.595C>T (p.Arg199Trp)	PLEKHG3 (R199W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2364928	NM_001308147.2(PLEKHG3):c.2792G>A (p.Arg931His)	PLEKHG3 (R931H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364789	NM_001308147.2(PLEKHG3):c.3316G>A (p.Gly1106Ser)	PLEKHG3 (G1106S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2356454	NM_001308147.2(PLEKHG3):c.4C>G (p.Pro2Ala)	PLEKHG3 (P2A)	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 2346151	NM_001308147.2(PLEKHG3):c.3290G>A (p.Arg1097His)	PLEKHG3 (R1097H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2340504	NM_001308147.2(PLEKHG3):c.901G>A (p.Gly301Arg)	PLEKHG3 (G301R)	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 2333213	NM_001308147.2(PLEKHG3):c.1910G>A (p.Arg637Gln)	PLEKHG3 (R637Q)	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

<< First< Prev

Page of 2