ClinVar for Gene (Select 196047) - ClinVar

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

Links from Gene

Items: 51

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3244903	NC_000010.10:g.(?_117823909)_(119750414_?)dup	CCDC172, EMX2 +14 more	Duplication	Microphthalmia, syndromic 11	GUncertain significance
Select item 3088790	NM_004098.4(EMX2):c.311C>T (p.Ser104Leu)	EMX2, EMX2OS (S104L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3088789	NM_004098.4(EMX2):c.101C>T (p.Ala34Val)	EMX2, EMX2OS (A34V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 3033057	NM_004098.4(EMX2):c.42G>A (p.Ser14=)	EMX2, EMX2OS	Single nucleotide variant (synonymous variant)	EMX2-related disorder	GLikely benign
Select item 3025142	NM_004098.4(EMX2):c.252A>C (p.Pro84=)	EMX2, EMX2OS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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 2541836	NM_004098.4(EMX2):c.238A>G (p.Asn80Asp)	EMX2, EMX2OS (N80D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2266545	NM_004098.4(EMX2):c.121T>G (p.Ser41Ala)	EMX2, EMX2OS (S41A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2238212	NM_004098.4(EMX2):c.14C>G (p.Ala5Gly)	EMX2, EMX2OS (A5G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1711265	NM_004098.4(EMX2):c.161CCG[5] (p.Ala59del)	EMX2, EMX2OS (A59del)	Microsatellite (inframe_deletion)	not provided	GLikely benign
Select item 1696669	NM_004098.4(EMX2):c.231C>G (p.His77Gln)	EMX2, EMX2OS (H77Q)	Single nucleotide variant (missense variant)	Schizencephaly	GUncertain significance
Select item 1527606	GRCh37/hg19 10q25.3-26.13(chr10:117019650-125217066)	ACADSB, ARMS2 +54 more	Copy number loss	not specified	GPathogenic
Select item 1527605	GRCh37/hg19 10q25.1-26.3(chr10:108455687-135427143)	ABLIM1, ABRAXAS2 +146 more	Copy number gain	not specified	GPathogenic
Select item 1342532	NM_004098.4(EMX2):c.260C>T (p.Pro87Leu)	EMX2, EMX2OS (P87L)	Single nucleotide variant (missense variant)	Schizencephaly	GUncertain significance
Select item 1330213	GRCh37/hg19 10q25.3-26.12(chr10:118891670-122349064)x1	CACUL1, PLPP4 +22 more	Copy number loss	Astigmatism +4 more	GUncertain significance
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 1077193	Single allele	BTBD16, C10orf120 +36 more	Deletion	not provided	GLikely pathogenic
Select item 992740	NM_004098.4(EMX2):c.112T>C (p.Tyr38His)	EMX2OS, EMX2 (Y38H)	Single nucleotide variant (missense variant)	Seizure	GUncertain significance
Select item 739982	NM_004098.4(EMX2):c.360C>T (p.Tyr120=)	EMX2, EMX2OS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 625556	GRCh37/hg19 10q25.3-26.13(chr10:117024753-124942806)	ACADSB, ARMS2 +54 more	Copy number loss	Distal 10q deletion syndrome	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 502001	NM_004098.4(EMX2):c.348G>T (p.Pro116=)	EMX2, EMX2OS	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 499434	NM_004098.4(EMX2):c.161CCG[8] (p.Ala58_Ala59dup)	EMX2, EMX2OS	Microsatellite (inframe_insertion)	not provided	GUncertain significance
Select item 499410	NM_004098.4(EMX2):c.81C>G (p.Ser27=)	EMX2, EMX2OS	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
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 393995	GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3	A1CF, ABCC2 +722 more	Copy number gain	See cases	GPathogenic
Select item 290406	NM_004098.4(EMX2):c.161CCG[7] (p.Ala59dup)	EMX2, EMX2OS	Microsatellite (inframe_insertion)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
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 193271	NM_004098.4(EMX2):c.105A>T (p.Ala35=)	EMX2, EMX2OS	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 193270	NM_004098.4(EMX2):c.161CCG[4] (p.Ala58_Ala59del)	EMX2, EMX2OS	Microsatellite (inframe_deletion)	not specified	GBenign/Likely benign
Select item 154913	GRCh38/hg38 10q25.3-26.11(chr10:117205385-118509587)x3	CASC2, EMX2 +31 more	Copy number gain	See cases	GUncertain significance
Select item 152970	GRCh38/hg38 10q26.11(chr10:117543285-117547455)x3	EMX2, EMX2OS	Copy number gain	See cases	GBenign
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 146398	GRCh38/hg38 10q26.11(chr10:117544790-117546838)x1	EMX2, EMX2OS	Copy number loss	See cases	GUncertain significance
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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 51