EMX2[gene] - ClinVar

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Items: 67

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 148679	GRCh38/hg38 10q24.31-26.3(chr10:100600492-133622588)x3	GSTO1, GSTO2 +1097 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 144206	GRCh38/hg38 10q25.1-26.3(chr10:108102587-133620674)x3	LOC126861107, LOC128598885 +802 more	Copy number gain	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 148437	GRCh38/hg38 10q25.2-26.12(chr10:112701186-120970617)x3	LOC126861050, LOC126861051 +248 more	Copy number gain	See cases	GLikely pathogenic
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 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 152970	GRCh38/hg38 10q26.11(chr10:117543285-117547455)x3	EMX2, EMX2OS	Copy number gain	See cases	GBenign
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 499410	NM_004098.4(EMX2):c.81C>G (p.Ser27=)	EMX2, EMX2OS	Single nucleotide variant (synonymous variant)	not provided	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 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 992740	NM_004098.4(EMX2):c.112T>C (p.Tyr38His)	EMX2OS, EMX2 (Y38H)	Single nucleotide variant (missense variant)	Seizure	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 499434	NM_004098.4(EMX2):c.161CCG[8] (p.Ala58_Ala59dup)	EMX2, EMX2OS	Microsatellite (inframe_insertion)	not provided	GUncertain significance
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 1711265	NM_004098.4(EMX2):c.161CCG[5] (p.Ala59del)	EMX2, EMX2OS (A59del)	Microsatellite (inframe_deletion)	not provided	GLikely 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 1696669	NM_004098.4(EMX2):c.231C>G (p.His77Gln)	EMX2, EMX2OS (H77Q)	Single nucleotide variant (missense variant)	Schizencephaly	GUncertain significance
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 3025142	NM_004098.4(EMX2):c.252A>C (p.Pro84=)	EMX2, EMX2OS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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 502001	NM_004098.4(EMX2):c.348G>T (p.Pro116=)	EMX2, EMX2OS	Single nucleotide variant (synonymous variant)	not provided	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 146398	GRCh38/hg38 10q26.11(chr10:117544790-117546838)x1	EMX2, EMX2OS	Copy number loss	See cases	GUncertain significance
Select item 9521	NM_004098.4(EMX2):c.407-4G>T	EMX2	Single nucleotide variant (intron variant)	Schizencephaly	GPathogenic
Select item 9520	NM_004098.4(EMX2):c.407-1G>A	EMX2	Single nucleotide variant (splice acceptor variant +1 more)	Schizencephaly	GPathogenic
Select item 9522	NM_004098.4(EMX2):c.407G>T (p.Gly136Val)	EMX2 (G136V)	Single nucleotide variant (missense variant +1 more)	Schizencephaly	GPathogenic
Select item 2379733	NM_004098.4(EMX2):c.428G>A (p.Ser143Asn)	EMX2 (S143N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 804789	NM_004098.4(EMX2):c.466C>A (p.Arg156=)	EMX2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2483342	NM_004098.4(EMX2):c.515C>A (p.Ala172Asp)	EMX2 (A172D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 447315	NM_004098.4(EMX2):c.575G>C (p.Ser192Thr)	EMX2 (S192T)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 9519	NM_004098.4(EMX2):c.575_576insA (p.Ser192fs)	EMX2 (S192fs)	Insertion (frameshift variant +1 more)	Schizencephaly	GPathogenic
Select item 585848	NM_004098.4(EMX2):c.591+6T>C	EMX2	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 1711266	NM_004098.4(EMX2):c.592-8del	EMX2	Deletion (intron variant)	not provided	GUncertain significance
Select item 3088791	NM_004098.4(EMX2):c.594A>G (p.Val198=)	EMX2 (K137E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2557719	NM_004098.4(EMX2):c.621A>C (p.Thr207=)	EMX2 (K146Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 593850	NM_004098.4(EMX2):c.653G>A (p.Gly218Asp)	EMX2 (G218D)	Single nucleotide variant (synonymous variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 2619841	NM_004098.4(EMX2):c.656C>T (p.Ser219Leu)	EMX2 (S219L)	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2233653	NM_004098.4(EMX2):c.668A>T (p.Gln223Leu)	EMX2 (Q223L)	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2411782	NM_004098.4(EMX2):c.725G>A (p.Ser242Asn)	EMX2 (S242N)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 3244903	NC_000010.10:g.(?_117823909)_(119750414_?)dup	CCDC172, EMX2 +14 more	Duplication	Microphthalmia, syndromic 11	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 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 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 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 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 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 253479	GRCh37/hg19 10q24.32-26.3(chr10:103288313-135512075)x3	ABLIM1, ABRAXAS2 +201 more	Copy number gain	See cases	GPathogenic

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Items: 67