Full data view for gene OTX2

This database is one of the "Eye disease" gene variant databases.
Information The variants shown are described using the transcript reference sequence.

75 entries on 1 page. Showing entries 1 - 75.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+?/. - r.0? r.(?) p.(?) Unknown - likely pathogenic g.57269187_57925545dup g.56802469_57458827dup RDH12 (NM_152443; OMIM: 608830): c.164C>T; p.Thr55Met (het) c.295C>A; p.Leu99Ile (het) (RP), OTX2 (NM_021728.3; OMIM: 600037): duplica tion Arr[hg19]14q22.3 (57269186_57925544)dup (het) (hemifacial microsomia) - OTX2_000095 heterozygous PubMed: Ehrenberg 2019 - - Germline yes - - - - DNA arraySNP, SEQ blood - ? Family 2 patient 1 PubMed: Ehrenberg 2019 - F no Israel - - - - - 1 LOVD
+/. _1_5_ c.(?_-4242057)_(*3517673_?)del r.0 p.0 Unknown - pathogenic (dominant) g.(?_53750780)_(61518967_?)del g.(?_53284062)_(61052249_?)del - hg18 14q22.2q23.1(52,820,533-60,588,720)x1 OTX2_000135 7.7Mb deletion PubMed: Chassaing 2014 - - Germline/De novo (untested) - - - - - DNA arrayCGH - gene panel MCOP Pat19 PubMed: Chassaing 2014 2-generation family, affected fetus, unaffected parents M - France - - - - - 1 Johan den Dunnen
+?/. - c.-264604_*1000416del r.0? p.0? Unknown - likely pathogenic g.56268037_57541514del - Whole gene deletion - OTX2_000122 - - - - De novo - - - - - DNA MLPA, FISH, arrayCGH - - retinal disease 2 PubMed: Wyatt-2008 - F - (United Kingdom (Great Britain)) - - - - - 1 LOVD
+/. _1_5_ c.(?_-223426)_(*2060286_?)del r.0 p.0 Parent #1 - pathogenic (dominant) g.(?_55208167)_(57500336_?)del g.(?_54741449)_(57033618_?)del - hg18 14q22.2q23.1(54,277,920-56,570,089)x1 OTX2_000136 2.3Mb deletion PubMed: Chassaing 2007, PubMed: Chassaing 2014 - - Germline - - - - - DNA arrayCGH - - MCOP FamCPat3;Pat20 PubMed: Chassaing 2007, PubMed: Chassaing 2014 family, 8 affected - - France - - - - - 8 Johan den Dunnen
+?/. - c.? r.(?) p.(Ser176Phefs*10) Parent #1 - likely pathogenic (dominant) g.? - 527del (Pro177*) - SERPINA1_000009 - PubMed: Bryant 2018 - - De novo - - - - - DNA SEQ-NG - WES retinal disease JB275 PubMed: Bryant 2018 - - - United States - - - - - 1 LOVD
+?/. - c.? r.? p.? Parent #1 - likely pathogenic g.? - c.G640T p.G214X - SERPINA1_000009 - PubMed: Wang 2016 - - De novo - - - - - DNA SEQ-NG - gene panel retinal disease Fam32 PubMed: Wang 2016 family, 1 affected, unaffected non-carrier parents - - China Han - - - - 1 LOVD
+/. - c.? r.(?) p.? Unknown - pathogenic g.? - p.Q181Hfs×7 - SERPINA1_000009 - PubMed: Wang-2013 - - Unknown - - - - - DNA SEQ-NG blood - retinal disease - PubMed: Wang-2013 novel LOF mutations - no - - - - - - 1 Julia Lopez
+/. - c.23C>A r.(?) p.(Pro8Gln) Unknown - pathogenic g.57272152G>T g.56805434G>T - - OTX2_000090 - PubMed: Wang 2015 - - Germline - - - - - DNA SEQ-NG - 163-gene panel retinal disease 132 PubMed: Wang 2015 index case - - China - - - - - 1 LOVD
?/. - c.38A>G r.(?) p.(Asn13Ser) Unknown - VUS g.57272137T>C - OTX2(NM_021728.4):c.38A>G (p.(Asn13Ser)) - OTX2_000131 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.53C>T r.(?) p.(Thr18Ile) Parent #1 - likely pathogenic g.57272122G>A g.56805404G>A - - OTX2_000089 not in 624 control chromosomes PubMed: Sun 2015 - - Germline - 1/596 chromosomes - - - DNA SEQ-NG - WES retinal disease HM307 PubMed: Sun 2015 proband - - China - - - - - 1 LOVD
?/. - c.61G>C r.(?) p.(Gly21Arg) Unknown - VUS g.57272114C>G - OTX2(NM_021728.4):c.61G>C (p.G21R) - OTX2_000132 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.97+12C>T r.(=) p.(=) Unknown - benign g.57272066G>A g.56805348G>A OTX2(NM_001270524.2):c.97+12C>T - OTX2_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 3i c.98-46C>A r.(=) p.(=) Parent #1 - benign g.57271127G>T g.56804409G>T - - OTX2_000010 - - - rs2277499 Germline - - - - - DNA SEQ - - - - - - - - Germany - - - - - 1 Andreas Laner
?/. - c.100C>T r.(?) p.(Pro34Ser) Unknown - VUS g.57271079G>A g.56804361G>A OTX2(NM_021728.4):c.100C>T (p.P34S) - OTX2_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.106G>C r.(?) p.(Ala36Pro) Unknown - VUS g.57271073C>G g.56804355C>G OTX2 c.106G>C, p.Ala36Pro - OTX2_000098 heterozygous PubMed: Thorsteinsson 2021 - - Unknown ? - - - - DNA SEQ-NG - retrospective analysis retinal disease RP5 PubMed: Thorsteinsson 2021 - ? - Iceland - - - - - 1 LOVD
?/. - c.125C>A r.(?) p.(Thr42Asn) Unknown - VUS g.57271054G>T g.56804336G>T OTX2(NM_001270524.2):c.101C>A (p.T34N), OTX2(NM_021728.4):c.125C>A (p.(Thr42Asn)) - OTX2_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.125C>A r.(?) p.(Thr42Asn) Unknown - VUS g.57271054G>T - OTX2(NM_001270524.2):c.101C>A (p.T34N), OTX2(NM_021728.4):c.125C>A (p.(Thr42Asn)) - OTX2_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.125C>T r.(?) p.(Thr42Ile) Unknown ACMG VUS g.57271054G>A g.56804336G>A - - OTX2_000130 ACMG PP3, PM2, PP2 PubMed: Weisschuh 2024 - - Germline - - - - - DNA SEQ-NG - WGS ? SRP-1277 PubMed: Weisschuh 2024 patient, no family history M - Germany - - - - - 1 Johan den Dunnen
?/. - c.126C>A r.(?) p.(Thr42=) Unknown - VUS g.57271053G>T g.56804335G>T - - OTX2_000087 - PubMed: Costa 2017 - - Germline - - - - - DNA SEQ-NG - 132-gene panel retinal disease Pat9 PubMed: Costa 2017 - F - Brazil - - - - - 1 LOVD
-?/. - c.142C>A r.(?) p.(Arg48=) Unknown - likely benign g.57271037G>T - OTX2(NM_001270524.1):c.118C>A (p.R40=) - OTX2_000124 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.155C>A r.(?) p.(Thr52Lys) Unknown - VUS g.57271024G>T g.56804306G>T - - OTX2_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.250-1G>A r.spl p.? Unknown - likely pathogenic g.57270931A>T g.56804213A>T OTX2 c.249-1G>A, Splicing - OTX2_000125 error in annotation, from published sequence the mutation is c.250-1G>A; heterozygous PubMed: Matias-Perez 2018 - - Germline yes absent in 240 in-house exomes alleles from Mexican individuals without ocular malformations - - - DNA SEQ-NG, SEQ blood - retinal disease 1's grandmother PubMed: Matias-Perez 2018 OTX2 family, proband's grandmother F - - Mexican - - - - 1 LOVD
+?/. 21 c.250-1G>A r.spl p.? Unknown - likely pathogenic g.57270931A>T g.56804213A>T OTX2 c.249-1G>A, Splicing - OTX2_000125 error in annotation, from published sequence the mutation is c.250-1G>A; heterozygous PubMed: Matias-Perez 2018 - - Germline yes absent in 240 in-house exomes alleles from Mexican individuals without ocular malformations - - - DNA SEQ-NG, SEQ blood - retinal disease 1's mother PubMed: Matias-Perez 2018 OTX2 family, proband's mother F - - Mexican - - - - 1 LOVD
+?/. 21 c.250-1G>A r.spl p.? Unknown - likely pathogenic g.57270931A>T g.56804213A>T OTX2 c.249-1G>A, Splicing - OTX2_000125 error in annotation, from published sequence the mutation is c.250-1G>A; heterozygous PubMed: Matias-Perez 2018 - - Germline yes absent in 240 in-house exomes alleles from Mexican individuals without ocular malformations - - - DNA SEQ-NG, SEQ blood - retinal disease 1 PubMed: Matias-Perez 2018 OTX2 family, proband M - - Mexican - - - - 1 LOVD
+/. - c.255G>A r.(?) p.(Trp85*) Unknown - pathogenic (dominant) g.57269068C>T g.56802350C>T - - OTX2_000084 - PubMed: Sanchez-Navarro 2018 - - De novo - - - - - DNA SEQ, SEQ-NG - - retinal disease RP-1613 PubMed: Sanchez-Navarro 2018 - - - Spain - - - - - 1 LOVD
+?/. - c.259G>A r.(?) p.(Glu87Lys) Unknown - likely pathogenic g.57270920C>T g.56804202C>T OTX2(NM_001270524.2):c.235G>A (p.E79K) - OTX2_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.259G>A r.(?) p.(Glu87Lys) Parent #1 - likely pathogenic g.57270920C>T g.56804202C>T - - OTX2_000070 not in 624 control chromosomes PubMed: Sun 2015 - - Germline - 1/596 chromosomes - - - DNA SEQ-NG - WES retinal disease HM873 PubMed: Sun 2015 proband - - China - - - - - 1 LOVD
+?/. - c.263C>G r.(?) p.(Ser88Trp) Unknown - likely pathogenic g.57270916G>C g.56804198G>C OTX2 c.263C>G, p.Ser88Trp - OTX2_000097 heterozygous PubMed: Turro 2020 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG-I blood whole genome sequencing retinal disease G000992 PubMed: Turro 2020 only individuals with mutations in retinal disease genes from this publication were inserted into LOVD ? - (United Kingdom (Great Britain)) - - - - - 1 LOVD
?/. - c.263C>T r.(?) p.(Ser88Leu) Unknown - VUS g.57270916G>A g.56804198G>A - - OTX2_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 4 c.265C>T r.(?) p.? Unknown - pathogenic g.57270914G>A - c.265c>T - OTX2_000091 - PubMed: Gonzalez Rodriguez 2010 - - Germline - - - - - DNA SEQ Blood - retinal disease - PubMed: Gonzalez Rodriguez 2010 - - - Mexico Mexican-mestizo - - - - 1 LOVD
+?/. 4 c.270A>T r.(?) p.(Arg90Ser) Paternal (confirmed) - likely pathogenic g.57270909T>A - c.270A>T, p.R90S - OTX2_000116 - - - - Germline - 0/96 caucasian controls - - - DNA SEQ, PCR, Western - - retinal disease III-3 PubMed: Ashkenazi-Hoffnung-2010 The paternal side has several members with short stature and anophthalmia M no - Sephardic Jewish - - - - 1 LOVD
+/. - c.272dup r.(?) p.(Val92Glyfs*4) Unknown ACMG pathogenic g.57270907dup g.56804189dup NM_172337.2:c.248dup - OTX2_000086 ACMG PVS1, PM2, PM6 PubMed: Patel 2017 - - Germline/De novo (untested) - - - - - DNA SEQ-NG - - MCOP F27‐M PubMed: Patel 2017 patient - no Saudi Arabia - - - - - 1 LOVD
+/. - c.273G>C r.(?) p.(Gln91His) Unknown - pathogenic (dominant) g.57270906C>G g.56804188C>G - - OTX2_000082 - PubMed: Slavotinek 2015 - - De novo - - - - - DNA SEQ, SEQ-NG - WES ? - PubMed: Slavotinek 2015 - F - United States - - - - - 1 Johan den Dunnen
+/. - c.278G>A r.(?) p.(Trp93*) Unknown ACMG pathogenic (dominant) g.57269069C>T g.56802351C>T NM_172337.2:c.254G>A - OTX2_000085 ACMG PVS1, PS2, PM2 PubMed: Patel 2017 - - De novo - - - - - DNA SEQ-NG - - MCOP F28‐M PubMed: Patel 2017 patient - no Saudi Arabia - - - - - 1 LOVD
+/. - c.289C>T r.(?) p.(Arg97Ter) Unknown - pathogenic (dominant) g.57269058G>A g.56802340G>A - - OTX2_000137 - PubMed: Chassaing 2014 - - Germline/De novo (untested) - - - - - DNA PCRq, SEQ - gene panel MCOP Pat21 PubMed: Chassaing 2014 2-generation family, affected fetus, unaffected parents M - France - - - - - 1 Johan den Dunnen
+/. - c.289C>T r.(?) p.(Arg97Ter) Paternal (confirmed) - pathogenic (dominant) g.57269058G>A g.56802340G>A - - OTX2_000137 - PubMed: Chassaing 2014 - - Germline - - - - - DNA PCRq, SEQ - gene panel MCOP Pat22 PubMed: Chassaing 2014 4-generation family, affected female (2 affected fetuses), father, paternal grandmother F - France - - - - - 5 Johan den Dunnen
+/. - c.296C>A r.(?) p.(Ala99Asp) Maternal (confirmed) - pathogenic (!) g.57269051G>T g.56802333G>T - - OTX2_000129 mother likely incomplete penetrant carrier PubMed: Riera 2017 - - Germline - - - - - DNA SEQ-NG - gene panel ? FamMA_1 PubMed: Riera 2017 2-generation family, 1 affected, unaffected carrier mother F - Spain Arab - - - - 1 Johan den Dunnen
+/. - c.316del r.(?) p.(Gln106AsnfsTer11) Unknown - pathogenic (dominant) g.57269031del g.56802313del 316delC - OTX2_000134 - PubMed: Chassaing 2012, PubMed: Chassaing 2014 - - Germline - - - - - DNA PCRq, SEQ - gene panel MCOP FamAPatIV7;Pat23 PubMed: Chassaing 2012, PubMed: Chassaing 2014 5-generation family, 17 affected F;M - France - - - - - 17 Johan den Dunnen
+/. 5 c.402dup r.(?) p.(Thr135Asnfs*10) Unknown - likely pathogenic g.57268945dup - c.402insC - OTX2_000110 - - - - De novo - - - - - DNA MLPA, FISH, arrayCGH - - retinal disease - PubMed: Dateki-2008 - F no - Japanese - - - - 1 LOVD
+/. 5 c.413C>G r.(?) p.(Ser138*) Unknown - pathogenic g.57268934G>C - c.413C>G p.S138X - OTX2_000109 - - - - De novo - 0/181 controls - - - DNA SEQ, PCR, arraySNP LCA chip - retinal disease NH13424 PubMed: Henderson-2009 - M - (United Kingdom (Great Britain)) - - - - - 1 LOVD
?/. - c.425C>G r.(?) p.(Pro142Arg) Unknown - VUS g.57268922G>C g.56802204G>C OTX2(NM_001270523.1):c.401C>G (p.(Pro134Arg)), OTX2(NM_001270524.1):c.401C>G (p.P134R) - OTX2_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.425C>G r.(?) p.(Pro142Arg) Unknown - VUS g.57268922G>C g.56802204G>C OTX2(NM_001270523.1):c.401C>G (p.(Pro134Arg)), OTX2(NM_001270524.1):c.401C>G (p.P134R) - OTX2_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.444G>C r.(?) p.(Pro148=) Unknown - benign g.57268903C>G g.56802185C>G OTX2(NM_001270524.1):c.420G>C (p.P140=), OTX2(NM_001270524.2):c.420G>C (p.P140=) - OTX2_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.444G>C r.(?) p.(Pro148=) Unknown - likely benign g.57268903C>G - OTX2(NM_001270524.1):c.420G>C (p.P140=), OTX2(NM_001270524.2):c.420G>C (p.P140=) - OTX2_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.448A>G r.(?) p.(Ile150Val) Unknown - VUS g.57268899T>C g.56802181T>C OTX2(NM_001270524.2):c.424A>G (p.I142V) - OTX2_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.459C>T r.(?) p.(Ser153=) Unknown - benign g.57268888G>A g.56802170G>A OTX2(NM_001270524.2):c.435C>T (p.S145=) - OTX2_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 5 c.485del r.(?) p.(Pro162Glnfs*24) Unknown - pathogenic g.57268862del - c.485delC (p.Pro162G.Infs*24) - OTX2_000105 - - - - Unknown ? - - - - DNA SEQ, SEQ-NG EDTA blood panel of retinal dystrophy genes retinal disease - PubMed: Abdalla-Elsayed-2017 - M - - - - - - - 1 LOVD
?/. - c.494T>A r.(?) p.(Ile165Asn) Unknown - VUS g.57268853A>T g.56802135A>T OTX2(NM_001270524.1):c.470T>A (p.I157N), OTX2(NM_001270524.2):c.470T>A (p.I157N) - OTX2_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.494T>A r.(?) p.(Ile165Asn) Unknown - VUS g.57268853A>T g.56802135A>T OTX2(NM_001270524.1):c.470T>A (p.I157N), OTX2(NM_001270524.2):c.470T>A (p.I157N) - OTX2_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.506C>G r.(?) p.(Ser169*) Unknown ACMG likely pathogenic g.57268841G>C g.56802123G>C OTX2, gene that can display both dominant and recessive patterns of inheritance, c.506C>G, p.Ser169*, heterozygous - OTX2_000099 - PubMed: Perea-Romero 2021 - - Unknown ? - - - - DNA ? - clinical exome sequencing retinal disease RP-1691 PubMed: Perea-Romero 2021 - - - Spain - - - - - 1 LOVD
+?/. - c.534C>A r.(?) p.(Cys178*) Unknown - likely pathogenic g.57268813G>T g.56802095G>T - - OTX2_000088 - PubMed: Ellingford 2016 - - Germline - - - - - DNA SEQ - 105-gene panel retinal disease 12010657 PubMed: Ellingford 2016 familial segregation analysis requested - - - - - - - - 1 LOVD
+?/. 5 c.538C>T r.(?) p.(Gln180*) Unknown - likely pathogenic g.57268809G>A - c.538C>T - OTX2_000126 - PubMed: Panneman 2023 - - Unknown - - - - - DNA SEQ - RP-LCA smMIPs sequencing LCA - PubMed: Panneman 2023 - F - - - - - - - 1 Daan Panneman
+/. - c.559C>T r.(?) p.(Gln187*) Unknown - pathogenic (dominant) g.57268764G>A g.56802046G>A - - OTX2_000083 - PubMed: Sanchez-Navarro 2018 - - De novo - - - - - DNA SEQ, SEQ-NG - - retinal disease RP-2140 PubMed: Sanchez-Navarro 2018 - - - Spain - - - - - 1 LOVD
+/. 5 c.576_577insCT r.(?) p.(Tyr193Leufs*22) Unknown - pathogenic g.57268770_57268771insAG - c.576-577insCT p.S136fsX178 - OTX2_000102 - - - - Unknown - - - - - DNA SEQ, PCR Functional analysis - retinal disease ? PubMed: Tajima-2009 - M no - Japanese - - - - 1 LOVD
+/. - c.591T>A r.(?) p.(Tyr197Ter) Unknown - pathogenic g.57268756A>T - OTX2(NM_001270524.2):c.567T>A (p.Y189*) - OTX2_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.663C>T r.(?) p.(Pro221=) Unknown - benign g.57268684G>A g.56801966G>A OTX2(NM_001270524.1):c.639C>T (p.P213=), OTX2(NM_001270524.2):c.639C>T (p.P213=) - OTX2_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.663C>T r.(?) p.(Pro221=) Unknown - likely benign g.57268684G>A g.56801966G>A OTX2(NM_001270524.1):c.639C>T (p.P213=), OTX2(NM_001270524.2):c.639C>T (p.P213=) - OTX2_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 5 c.664G>M r.(?) p.(His337Arg) Unknown - likely pathogenic g.57268683C>K - p.OTX2-G222R - OTX2_000093 - PubMed: Schorderet-2013 - - Unknown ? - - - - DNA SEQ-NG, SEQp blood targeted exon capture/IROme assay retinal disease - PubMed: Schorderet-2013 - - - Switzerland Swiss, Algerian or Tunisian - - - - 1 LOVD
+/. 5 c.675del r.(?) p.(Thr226Hisfs*76) Unknown - pathogenic g.57268673del g.56801955del NM_001270523.1:c.651del - OTX2_000061 - - - - Unknown - - - - - DNA PCR - - MCOPS5 - - - M no El Salvador Hispanic - - - - 1 Elena Semina
?/. - c.677_678insTGTG r.(?) p.(Leu227Valfs*34) Unknown - VUS g.57268669_57268670insCACA g.56801951_56801952insCACA OTX2 c.677_678insTGTG, p.Leu227ValfsTer34 - OTX2_000096 unsolved PubMed: Zampaglione 2020 - - Unknown ? - - - - DNA SEQ-NG-I, SEQ blood - retinal disease OGI2863_004448 PubMed: Zampaglione 2020 - ? - - - - - - - 1 LOVD
+?/. - c.686_696del r.(?) p.(Pro229GlnfsTer27) Unknown - likely pathogenic g.57268652_57268662del g.56801934_56801944del OTX2(NM_021728.3):c.686_696del (p.(Pro229GlnfsTer27)) - OTX2_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.713A>T r.(?) p.(His238Leu) Unknown - VUS g.57268634T>A - OTX2(NM_172337.3):c.689A>T (p.H230L) - OTX2_000123 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.727C>G r.(?) p.(Pro243Ala) Unknown - likely benign g.57268620G>C - OTX2(NM_001270523.1):c.703C>G (p.(Pro235Ala)) - OTX2_000127 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.743C>T r.(?) p.(Thr248Ile) Unknown - VUS g.57268604G>A g.56801886G>A OTX2(NM_001270524.1):c.719C>T (p.T240I), OTX2(NM_021728.4):c.743C>T (p.(Thr248Ile)) - OTX2_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.743C>T r.(?) p.(Thr248Ile) Unknown - VUS g.57268604G>A - OTX2(NM_001270524.1):c.719C>T (p.T240I), OTX2(NM_021728.4):c.743C>T (p.(Thr248Ile)) - OTX2_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.749del r.(?) p.(Gly250Aspfs*52) Unknown - pathogenic (dominant) g.57268600del g.56801882del 749delG - OTX2_000076 - - - - De novo ? - - - - DNA SEQ-NG - - AGOTC - - - M no - - - - - - 1 Isabel Filges
+?/. 5 c.761C>A r.(?) p.(Ser254*) Unknown - likely pathogenic g.57268586G>T g.56801868G>T - - OTX2_000060 seems not associated with ID phenotype PubMed: Gilissen 2014 - - De novo no - - - - DNA SEQ - - ID - PubMed: Gilissen 2014 - ? ? - - - - - - 1 Marianne Vos (LOVD-team)
+/. 5 c.781_784del r.(?) p.(Thr261LeufsTer40) Unknown - pathogenic (dominant) g.57268565_57268568del g.56801847_56801850del - - OTX2_000128 - PubMed: Nambot 2018 - - De novo - - - - - DNA SEQ, SEQ-NG - WES ? PED3716.1 PubMed: Nambot 2018 - - - France - - - - - 1 Johan den Dunnen
+?/. - c.811del r.(?) p.(Thr271Leufs*31) Unknown - likely pathogenic g.57268538del g.56801820del OTX2;NM_021728.2;c.[811del];[811=];p.[(Thr271Leufs*31)];[(Thr271=)]; - OTX2_000094 heterozygous PubMed: Jiman 2020 - - Unknown ? - - - - DNA SEQ-NG-I - 176 genes panel retinal disease 58 PubMed: Jiman 2020 - M - (United Kingdom (Great Britain)) - - - - - 1 LOVD
-?/. - c.831C>T r.(?) p.(Asn277=) Unknown - likely benign g.57268516G>A g.56801798G>A OTX2(NM_001270524.1):c.807C>T (p.N269=), OTX2(NM_001270524.2):c.807C>T (p.N269=) - OTX2_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.831C>T r.(?) p.(Asn277=) Unknown - benign g.57268516G>A - OTX2(NM_001270524.1):c.807C>T (p.N269=), OTX2(NM_001270524.2):c.807C>T (p.N269=) - OTX2_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.843C>A r.(?) p.(Asp281Glu) Unknown - VUS g.57268504G>T - OTX2(NM_021728.4):c.843C>A (p.(Asp281Glu)) - OTX2_000133 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.844T>A r.(?) p.(Cys282Ser) Unknown - likely pathogenic g.57268503A>T g.56801785A>T c.844?T>A; p.C282S - OTX2_000092 - PubMed: Kersten 2018 - - Germline/De novo (untested) - - - - - DNA SEQ-NG - Whole-exome sequencing retinal disease ? PubMed: Kersten 2018 - F - - - - - - - 1 LOVD
?/. - c.872C>T r.(?) p.(Ser291Leu) Unknown - VUS g.57268475G>A g.56801757G>A - - OTX2_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 5 c.*340del r.(=) p.(=) Parent #1 - VUS g.57268113del g.56801395del - - OTX2_000063 - - - rs3215889 Germline - - - - - DNA SEQ - - ? - - - - - Germany - - - - - 1 Andreas Laner
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