ClinVar for Gene (Select 79949) - ClinVar

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Links from Gene

Items: 72

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3307721	NM_001395068.1(PLEKHS1):c.338A>G (p.Tyr113Cys)	PLEKHS1 (Y25C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3307720	NM_001395068.1(PLEKHS1):c.473A>G (p.Tyr158Cys)	PLEKHS1 (Y158C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3307719	NM_001395068.1(PLEKHS1):c.750T>G (p.Ile250Met)	PLEKHS1 (I162M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3307718	NM_001395068.1(PLEKHS1):c.416C>G (p.Ala139Gly)	PLEKHS1 (A51G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215212	NM_001395068.1(PLEKHS1):c.1279G>T (p.Ala427Ser)	PLEKHS1 (A325S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3215211	NM_001395068.1(PLEKHS1):c.846G>C (p.Glu282Asp)	PLEKHS1 (E194D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215209	NM_001395068.1(PLEKHS1):c.193C>T (p.His65Tyr)	PLEKHS1 (H59Y +1 more)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3215208	NM_001395068.1(PLEKHS1):c.158G>A (p.Gly53Glu)	PLEKHS1 (G47E +1 more)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3215205	NM_001395068.1(PLEKHS1):c.1118G>A (p.Arg373His)	PLEKHS1 (R353H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3215204	NM_001395068.1(PLEKHS1):c.1066C>G (p.Leu356Val)	PLEKHS1 (L254V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063164	GRCh37/hg19 10q23.33-26.3(chr10:95078198-135427143)x3	ABCC2, ABLIM1 +293 more	Copy number gain	not specified	GPathogenic
Select item 3063162	GRCh37/hg19 10q25.1-26.13(chr10:107129993-123817654)x3	ABLIM1, ACSL5 +70 more	Copy number gain	not specified	GLikely pathogenic
Select item 2684621	GRCh37/hg19 10q25.1-26.3(chr10:111447991-133435388)x3	ABLIM1, ABRAXAS2 +117 more	Copy number gain	not provided	GPathogenic
Select item 2671974	GRCh37/hg19 10q25.1-26.3(chr10:111378692-135427143)x3	ABLIM1, ABRAXAS2 +145 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2640856	NM_001395068.1(PLEKHS1):c.867C>T (p.His289=)	PLEKHS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2613554	NM_001395068.1(PLEKHS1):c.1115C>T (p.Pro372Leu)	PLEKHS1 (P270L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2607790	NM_001395068.1(PLEKHS1):c.659G>A (p.Ser220Asn)	PLEKHS1 (S132N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2574696	GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143)	AGAP5, CRTAC1 +682 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2574686	GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143)	ABRAXAS2, CHCHD1 +673 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 2560049	NM_001395068.1(PLEKHS1):c.1367C>T (p.Pro456Leu)	PLEKHS1 (P354L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2557048	NM_001395068.1(PLEKHS1):c.1227+238C>T	PLEKHS1 (R419W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2553710	NM_001395068.1(PLEKHS1):c.1085G>T (p.Arg362Leu)	PLEKHS1 (R342L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552321	NM_001395068.1(PLEKHS1):c.892G>A (p.Asp298Asn)	PLEKHS1 (D210N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548203	NM_001395068.1(PLEKHS1):c.1227+307A>G	PLEKHS1 (T442A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2542172	NM_001395068.1(PLEKHS1):c.596T>C (p.Leu199Pro)	PLEKHS1 (L199P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538941	NM_001395068.1(PLEKHS1):c.1396G>A (p.Ala466Thr)	PLEKHS1 (A364T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2526489	NM_001395068.1(PLEKHS1):c.1227+260C>T	PLEKHS1 (A426V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2524646	NM_001395068.1(PLEKHS1):c.1227+151G>T	PLEKHS1 (D390Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2493666	NM_001395068.1(PLEKHS1):c.854A>G (p.Asp285Gly)	PLEKHS1 (D279G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479554	NM_001395068.1(PLEKHS1):c.1227+367T>C	PLEKHS1 (W462R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2465174	NM_001395068.1(PLEKHS1):c.400C>T (p.Arg134Cys)	PLEKHS1 (R128C +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2361438	NM_001395068.1(PLEKHS1):c.232A>G (p.Ser78Gly)	PLEKHS1 (S72G +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2340179	NM_001395068.1(PLEKHS1):c.1217T>C (p.Ile406Thr)	PLEKHS1 (I386T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2338998	NM_001395068.1(PLEKHS1):c.1227+253A>C	PLEKHS1 (K424Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2331434	NM_001395068.1(PLEKHS1):c.578G>A (p.Gly193Glu)	PLEKHS1 (G193E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329280	NM_001395068.1(PLEKHS1):c.316A>G (p.Ile106Val)	PLEKHS1 (I100V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313601	NM_001395068.1(PLEKHS1):c.1173A>T (p.Lys391Asn)	PLEKHS1 (K391N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2310825	NM_001395068.1(PLEKHS1):c.60A>C (p.Glu20Asp)	PLEKHS1 (E20D +1 more)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2309984	NM_001395068.1(PLEKHS1):c.555T>A (p.His185Gln)	PLEKHS1 (H179Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309367	NM_001395068.1(PLEKHS1):c.127A>G (p.Lys43Glu)	PLEKHS1 (K43E +1 more)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2268263	NM_001395068.1(PLEKHS1):c.501C>A (p.Ser167Arg)	PLEKHS1 (S167R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266109	NM_001395068.1(PLEKHS1):c.790G>C (p.Glu264Gln)	PLEKHS1 (E176Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259509	NM_001395068.1(PLEKHS1):c.81T>A (p.Phe27Leu)	PLEKHS1 (F27L +1 more)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2238008	NM_001395068.1(PLEKHS1):c.401G>T (p.Arg134Leu)	PLEKHS1 (R134L +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2236596	NM_001395068.1(PLEKHS1):c.316A>C (p.Ile106Leu)	PLEKHS1 (I18L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220721	NM_001395068.1(PLEKHS1):c.343C>T (p.Leu115Phe)	PLEKHS1 (L109F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215812	NM_001395068.1(PLEKHS1):c.236T>C (p.Val79Ala)	PLEKHS1 (V73A +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2203802	NM_001395068.1(PLEKHS1):c.1246G>A (p.Gly416Ser)	PLEKHS1 (G416S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1527605	GRCh37/hg19 10q25.1-26.3(chr10:108455687-135427143)	ABLIM1, ABRAXAS2 +146 more	Copy number gain	not specified	GPathogenic
Select item 1340153	GRCh37/hg19 10q25.1-25.3(chr10:107092654-117852548)x1	ABLIM1, ACSL5 +32 more	Copy number loss	not provided	GUncertain significance
Select item 687114	GRCh37/hg19 10q25.2-26.3(chr10:114544537-135427143)x3	ABLIM1, ABRAXAS2 +130 more	Copy number gain	not provided	GPathogenic
Select item 625657	GRCh37/hg19 10q25.1-26.3(chr10:110022170-135439095)	ABLIM1, ABRAXAS2 +146 more	Copy number gain	not provided	GPathogenic
Select item 563802	GRCh37/hg19 10q23.33-26.3(chr10:94346520-135427143)x3	ABCC2, ABLIM1 +298 more	Copy number gain	not provided	GPathogenic
Select item 563801	GRCh37/hg19 10q24.33-26.3(chr10:105613040-135427143)x3	ABLIM1, ABRAXAS2 +157 more	Copy number gain	not provided	GPathogenic
Select item 523165	GRCh37/hg19 10q11.21-26.3(chr10:42347406-135534747)x1	COX15, CPEB3 +569 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 443838	GRCh37/hg19 10q25.1-26.3(chr10:106003533-135427143)x3	ABLIM1, ABRAXAS2 +151 more	Copy number gain	See cases	GPathogenic
Select item 443323	GRCh37/hg19 10q23.32-26.3(chr10:93283493-135427143)x3	ABCC2, ABLIM1 +305 more	Copy number gain	See cases	GPathogenic
Select item 441987	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)	INA, INPP5A +721 more	Copy number gain	See cases	GPathogenic
Select item 441986	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3	A1CF, ABCC2 +721 more	Copy number gain	See cases	GPathogenic
Select item 395236	GRCh37/hg19 10q25.3(chr10:115274398-115542099)x1	CASP7, HABP2 +2 more	Copy number loss	See cases	GUncertain significance
Select item 393995	GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3	A1CF, ABCC2 +722 more	Copy number gain	See cases	GPathogenic
Select item 253479	GRCh37/hg19 10q24.32-26.3(chr10:103288313-135512075)x3	ABLIM1, ABRAXAS2 +201 more	Copy number gain	See cases	GPathogenic
Select item 155304	GRCh38/hg38 10q24.32-25.3(chr10:102732173-114085105)x1	LOC124416905, LOC124416906 +318 more	Copy number loss	See cases	GPathogenic
Select item 151000	GRCh38/hg38 10q25.2-25.3(chr10:110804735-114884010)x1	ABLIM1, ACSL5 +134 more	Copy number loss	See cases	GLikely pathogenic
Select item 148679	GRCh38/hg38 10q24.31-26.3(chr10:100600492-133622588)x3	GSTO1, GSTO2 +1097 more	Copy number gain	See cases	GPathogenic
Select item 148437	GRCh38/hg38 10q25.2-26.12(chr10:112701186-120970617)x3	LOC126861050, LOC126861051 +248 more	Copy number gain	See cases	GLikely pathogenic
Select item 146710	GRCh38/hg38 10q25.2-25.3(chr10:112074094-115537174)x1	LOC130004765, LOC130004766 +109 more	Copy number loss	See cases	GPathogenic
Select item 144206	GRCh38/hg38 10q25.1-26.3(chr10:108102587-133620674)x3	LOC126861107, LOC128598885 +802 more	Copy number gain	See cases	GPathogenic
Select item 59707	GRCh38/hg38 10q24.31-26.3(chr10:100194215-132432797)x3	EDRF1-AS1, EDRF1-DT +1036 more	Copy number gain	See cases	GPathogenic
Select item 58782	GRCh38/hg38 10q25.1-26.11(chr10:107191100-118761489)x1	ABLIM1, ACSL5 +308 more	Copy number loss	See cases	GPathogenic
Select item 57507	GRCh38/hg38 10q25.2-26.3(chr10:111313099-133620674)x3	ABLIM1, ABRAXAS2 +679 more	Copy number gain	See cases	GPathogenic
Select item 57116	GRCh38/hg38 10q23.33-25.3(chr10:95112607-116776637)x3	LOC130004500, LOC130004501 +821 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 72