ClinVar for Gene (Select 4255) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3063175	GRCh37/hg19 10q26.13-26.3(chr10:125987494-135427143)x1	ABRAXAS2, ADAM12 +55 more	Copy number loss	not specified	GPathogenic
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 3063154	GRCh37/hg19 10q26.3(chr10:131398569-135427143)x1	ADAM8, ADGRA1 +31 more	Copy number loss	not specified	GPathogenic
Select item 3063149	GRCh37/hg19 10q26.13-26.3(chr10:126127397-135427143)x1	ABRAXAS2, ADAM12 +54 more	Copy number loss	not specified	GPathogenic
Select item 3063142	GRCh37/hg19 10q26.2-26.3(chr10:130438796-131875311)x1	EBF3, MGMT	Copy number loss	not specified	GPathogenic
Select item 3061841	GRCh38/hg38 10q26.2-26.3(chr10:125976998-133427130)x1	CLRN3, DOCK1 +201 more	Copy number loss	Hypotonia, ataxia, and delayed development syndrome +1 more	GPathogenic
Select item 3024574	GRCh37/hg19 10q26.3(chr10:131299771-135441274)x1	ADAM8, ADGRA1 +32 more	Copy number loss	not provided	GPathogenic
Select item 2685391	GRCh37/hg19 10q26.2-26.3(chr10:128925940-135427143)x1	ADAM8, ADGRA1 +38 more	Copy number loss	not provided	GPathogenic
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 2671973	GRCh37/hg19 10q26.2-26.3(chr10:128289206-135427143)x1	ADAM8, ADGRA1 +38 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 2605921	NM_002412.5(MGMT):c.542T>C (p.Leu181Ser)	MGMT (L181S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2594381	NM_002412.5(MGMT):c.97C>T (p.Leu33Phe)	MGMT (L33F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2580338	GRCh37/hg19 10q26.13-26.3(chr10:124895517-135440296)x1	ABRAXAS2, ADAM12 +62 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 2574696	GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143)	MTG1, NPS +679 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2574693	GRCh37/hg19 10q26.13-26.3(chr10:123477898-135427143)	ABRAXAS2, ACADSB +77 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 2574686	GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143)	A1CF, ABCC2 +670 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 2569748	NM_002412.5(MGMT):c.241G>A (p.Val81Met)	MGMT (V81M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2554953	NM_002412.5(MGMT):c.238C>G (p.Pro80Ala)	MGMT (P80A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2498475	GRCh37/hg19 10q26.12-26.3(chr10:122610933-135439810)x1	HMX3, LHPP +80 more	Copy number loss	not provided	GPathogenic
Select item 2479728	NM_002412.5(MGMT):c.457G>A (p.Gly153Arg)	MGMT (G153R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2467938	NM_002412.5(MGMT):c.543G>T (p.Leu181Phe)	MGMT (L181F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2460974	NM_002412.5(MGMT):c.568G>A (p.Ala190Thr)	MGMT (A190T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2399721	NM_002412.5(MGMT):c.74A>G (p.Glu25Gly)	MGMT (E25G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2280178	NM_002412.5(MGMT):c.257A>G (p.His86Arg)	MGMT (H86R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2273661	NM_002412.5(MGMT):c.284C>G (p.Thr95Ser)	MGMT (T95S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2264727	NM_002412.5(MGMT):c.-54C>G	MGMT	Single nucleotide variant (5 prime UTR variant)	Inborn genetic diseases	GUncertain significance
Select item 2262863	NM_002412.5(MGMT):c.223G>A (p.Ala75Thr)	MGMT (A75T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2236182	NM_002412.5(MGMT):c.245C>T (p.Pro82Leu)	MGMT (P82L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2217646	NM_002412.5(MGMT):c.500G>C (p.Trp167Ser)	MGMT (W167S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1808847	GRCh37/hg19 10q26.13-26.3(chr10:126662496-133985966)x3	ADAM12, BCCIP +24 more	Copy number gain	not provided	GUncertain significance
Select item 1808640	GRCh37/hg19 10q26.2-26.3(chr10:130043370-135345340)x1	ADAM8, ADGRA1 +30 more	Copy number loss	not provided	GPathogenic
Select item 1807724	GRCh37/hg19 10q26.2-26.3(chr10:128877896-131842835)x1	CLRN3, DOCK1 +7 more	Copy number loss	not provided	GPathogenic
Select item 1711099	GRCh37/hg19 10q26.13-26.3(chr10:127198625-135427143)x3	ADAM12, ADAM8 +47 more	Copy number gain	See cases	GPathogenic
Select item 1711096	GRCh37/hg19 10q26.13-26.3(chr10:126914469-135427143)x1	ADAM12, ADAM8 +47 more	Copy number loss	See cases	GPathogenic
Select item 1706486	GRCh37/hg19 10q26.2-26.3(chr10:129605105-135427143)x1	GLRX3, INPP5A +34 more	Copy number loss	See cases	GPathogenic
Select item 1527623	GRCh37/hg19 10q26.3(chr10:131324081-132362298)	EBF3, GLRX3 +1 more	Copy number gain	not specified	GUncertain significance
Select item 1527622	GRCh37/hg19 10q26.2-26.3(chr10:129914228-135427143)	ADAM8, ADGRA1 +32 more	Copy number loss	not specified	GPathogenic
Select item 1527616	GRCh37/hg19 10q26.2-26.3(chr10:128465436-135427143)	ADAM8, ADGRA1 +38 more	Copy number loss	not specified	GPathogenic
Select item 1527609	GRCh37/hg19 10q26.12-26.3(chr10:122343861-135427143)	FAM24A, FAM24B +80 more	Copy number loss	not specified	GPathogenic
Select item 1527608	GRCh37/hg19 10q26.12-26.3(chr10:122125760-135062972)	ABRAXAS2, ACADSB +68 more	Copy number gain	not specified	GLikely pathogenic
Select item 1527605	GRCh37/hg19 10q25.1-26.3(chr10:108455687-135427143)	ABLIM1, ABRAXAS2 +146 more	Copy number gain	not specified	GPathogenic
Select item 1230786	NM_002412.5(MGMT):c.533A>G (p.Lys178Arg)	MGMT (K178R)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1180521	GRCh37/hg19 10q25.3-26.3(chr10:118247181-135435319)x3	ECHS1, EDRF1 +110 more	Copy number gain	not provided	GPathogenic
Select item 1172570	GRCh37/hg19 10q26.12-26.3(chr10:122785023-135457222)x1	FANK1, FGFR2 +79 more	Copy number loss	See cases	GPathogenic
Select item 1077185	Single allele	STK32C, SYCE1 +43 more	Deletion	Distal 10q deletion syndrome	GPathogenic
Select item 1048551	GRCh37/hg19 10q26.3(chr10:131243689-132131959)x3,4	EBF3, GLRX3 +1 more	Copy number gain	not provided	GUncertain significance
Select item 1048550	GRCh37/hg19 10q26.3(chr10:131542049-132107231)x1	EBF3, GLRX3 +1 more	Copy number loss	not provided	GPathogenic
Select item 1047895	GRCh37/hg19 10q26.2-26.3(chr10:129483682-135434178)	TCERG1L, TCERG1L-AS1 +35 more	Copy number loss	Global developmental delay	GPathogenic
Select item 979909	GRCh37/hg19 10q26.2-26.3(chr10:129031265-135427143)x1	PPP2R2D, BNIP3 +37 more	Copy number loss	not provided	GPathogenic
Select item 815389	GRCh37/hg19 10q26.3(chr10:131271219-131422362)x1	MGMT	Copy number loss	not provided	GUncertain significance
Select item 815388	GRCh37/hg19 10q26.3(chr10:131250212-131512933)x1	MGMT	Copy number loss	not provided	GUncertain significance
Select item 815387	GRCh37/hg19 10q26.2-26.3(chr10:129381095-135427143)x1	ADAM8, ADGRA1 +35 more	Copy number loss	not provided	GPathogenic
Select item 815385	GRCh37/hg19 10q26.2-26.3(chr10:129009772-135427143)x1	DPYSL4, INPP5A +37 more	Copy number loss	not provided	GPathogenic
Select item 815379	GRCh37/hg19 10q26.11-26.3(chr10:119996339-135427143)x3	FGFR2, FOXI2 +95 more	Copy number gain	not provided	GPathogenic
Select item 812926	NC_000010.10:g.129942146_132848717del	EBF3, GLRX3 +1 more	Deletion	Paroxysmal dyskinesia	GLikely pathogenic
Select item 742776	NM_002412.5(MGMT):c.-64C>T	MGMT	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 721938	NM_002412.5(MGMT):c.261C>T (p.Pro87=)	MGMT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 712957	NM_002412.5(MGMT):c.153G>A (p.Ala51=)	MGMT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 688100	GRCh37/hg19 10q26.13-26.3(chr10:124988334-135427143)x3	ABRAXAS2, ADAM12 +58 more	Copy number gain	not provided	GPathogenic
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 597465	NM_002412.5(MGMT):c.88G>A (p.Glu30Lys)	MGMT (E30K)	Single nucleotide variant (missense variant)	not specified +1 more	GLikely benign
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 563799	GRCh37/hg19 10q26.11-26.3(chr10:121269222-135427143)x3	ABRAXAS2, ACADSB +86 more	Copy number gain	not provided	GPathogenic
Select item 563798	GRCh37/hg19 10q26.12-26.3(chr10:122509781-135427143)x1	ABRAXAS2, ACADSB +79 more	Copy number loss	not provided	GPathogenic
Select item 563797	GRCh37/hg19 10q26.12-26.3(chr10:123019239-135427143)x1	ABRAXAS2, ACADSB +78 more	Copy number loss	not provided	GPathogenic
Select item 563796	GRCh37/hg19 10q26.13-26.3(chr10:125450893-135427143)x1	ABRAXAS2, ADAM12 +58 more	Copy number loss	not provided	GPathogenic
Select item 563794	GRCh37/hg19 10q26.13-26.3(chr10:127375792-135427143)x1	TCERG1L, LINC01166 +46 more	Copy number loss	not provided	GPathogenic
Select item 563779	GRCh37/hg19 10q26.2-26.3(chr10:129728658-131585151)x3	PTPRE, MGMT +1 more	Copy number gain	not provided	GLikely benign
Select item 563688	GRCh37/hg19 10q26.3(chr10:131422360-131474474)x1	MGMT	Copy number loss	not provided	GUncertain significance
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 443505	GRCh37/hg19 10q26.2-26.3(chr10:129007673-135427143)x3	ADAM8, ADGRA1 +37 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 442903	GRCh37/hg19 10q26.2-26.3(chr10:127658004-135427143)x1	ADAM12, ADAM8 +41 more	Copy number loss	See cases	GPathogenic
Select item 442485	GRCh37/hg19 10q26.2-26.3(chr10:129825453-135427143)x1	ADAM8, ADGRA1 +33 more	Copy number loss	See cases	GLikely pathogenic
Select item 442270	GRCh37/hg19 10q26.3(chr10:130693843-134772865)x1	BNIP3, CFAP46 +15 more	Copy number loss	See cases	GLikely pathogenic
Select item 441987	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)	A1CF, ABCC2 +722 more	Copy number gain	See cases	GPathogenic
Select item 441986	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3	NFKB2, NHLRC2 +722 more	Copy number gain	See cases	GPathogenic
Select item 395627	GRCh37/hg19 10q26.13-26.3(chr10:124147428-135370736)x1	ABRAXAS2, ACADSB +73 more	Copy number loss	See cases	GPathogenic
Select item 393995	GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3	A1CF, ANXA8L1 +723 more	Copy number gain	See cases	GPathogenic
Select item 376361	NM_002412.5(MGMT):c.-28C>T	MGMT	Single nucleotide variant (5 prime UTR variant)	Glioblastoma	Gnot provided
Select item 286330	NM_002412.5(MGMT):c.27C>T (p.Arg9=)	MGMT	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
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 219035	GRCh37/hg19 10q26.13-26.3(chr10:123731209-135353867)x1	ACADSB, ADAM12 +75 more	Copy number loss	See cases	GPathogenic
Select item 155556	GRCh38/hg38 10q26.13-26.3(chr10:123986772-133613639)x1	LOC110120928, LOC110121444 +311 more	Copy number loss	See cases	GPathogenic
Select item 155548	GRCh38/hg38 10q26.2-26.3(chr10:126794646-133613639)x1	ADAM8, ADGRA1 +199 more	Copy number loss	See cases	GPathogenic
Select item 155477	GRCh38/hg38 10q26.13-26.3(chr10:123576393-133613639)x1	ABRAXAS2, ADAM12 +318 more	Copy number loss	See cases	GPathogenic
Select item 155174	GRCh38/hg38 10q26.2-26.3(chr10:127435985-133622588)x1	ADAM8, ADGRA1 +192 more	Copy number loss	See cases	GPathogenic
Select item 154670	GRCh38/hg38 10q26.13-26.3(chr10:121918547-133620674)x1	LOC110120892, LOC110120898 +395 more	Copy number loss	See cases	GPathogenic
Select item 154374	GRCh38/hg38 10q26.13-26.3(chr10:121588992-133620674)x1	LOC130004930, LOC130004931 +399 more	Copy number loss	See cases	GPathogenic
Select item 153718	GRCh38/hg38 10q26.11-26.3(chr10:119707856-133613639)x3	LOC126861096, LOC126861097 +438 more	Copy number gain	See cases	GPathogenic
Select item 153543	GRCh38/hg38 10q26.2-26.3(chr10:127507503-129782976)x3	AS-PTPRE, CLRN3 +34 more	Copy number gain	See cases	GUncertain significance
Select item 152830	GRCh38/hg38 10q26.13-26.3(chr10:125452905-133785874)x3	ADAM12, ADAM8 +241 more	Copy number gain	See cases	GPathogenic
Select item 152433	GRCh38/hg38 10q26.2-26.3(chr10:127664168-133622588)x3	ADAM8, ADGRA1 +190 more	Copy number gain	See cases	GLikely pathogenic
Select item 150776	GRCh38/hg38 10q26.13-26.3(chr10:125021995-133620609)x1	ADAM12, ADAM8 +250 more	Copy number loss	See cases	GPathogenic
Select item 150499	GRCh38/hg38 10q26.12-26.3(chr10:120970558-133622588)x1	LOC130004871, LOC130004872 +409 more	Copy number loss	See cases	GPathogenic
Select item 149417	GRCh38/hg38 10q26.13-26.3(chr10:122881207-133620609)x1	ABRAXAS2, ACADSB +361 more	Copy number loss	See cases	GPathogenic

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