Full data view for gene EYS

This database is one of the "Eye disease" gene variant databases. When using this database, please refer to Messchaert et al. 2018.
Information The variants shown are described using the NM_001142800.1 transcript reference sequence.

2689 entries on 27 pages. Showing entries 1 - 100.
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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     
+/. - c.5928‐2A>G r.spl p.? Both (homozygous) - pathogenic g.65098735T>C g.64388842T>C - - EYS_000158 - PubMed: Khan 2017 - - Germline - - - - - DNA SEQ-NG - 105-gene panel retinal disease 32452 PubMed: Khan 2017 see paper - - United Kingdom (Great Britain) - - - - - 1 LOVD
+/. _1_1i c.-92617_-448+26879del r.0? p.0? Parent #2 - pathogenic (recessive) g.66390149_66509197del g.65680256_65799304del - - EYS_000940 - PubMed: Wen 2023 - - Germline - - - - - DNA SEQ-NG - - RP MEP_970 PubMed: Wen 2023 2-generation family, 1 affected, unaffected parents M - United States - - - - - 1 Johan den Dunnen
?/. _1_1i c.-12233_-447-18280del r.? p.? Parent #2 ACMG VUS g.66368069_66428817del g.65658176_65718924del - - EYS_000886 - PubMed: Reurink 2023, Journal: Reurink 2023 - - Germline - - - - - DNA SEQ-NG - WGS retinal disease arRP6 PubMed: Reurink 2023, Journal: Reurink 2023 - - - - - - - - - 1 Janine Reurink
?/. 1 c.(?_-539-1)_(-448+1_-447-1)del r.(?) p.(?) Unknown ACMG VUS g.? g.? deletion of exon 1 - LAMA2_000000 Heterozygous PubMed: Birtel 2018 - - Germline - - - - - DNA SEQ blood - retinal disease 4 PubMed: Birtel 2018 - F - Germany - - - - - 1 LOVD
+/+ 1 c.-538_-448del r.(?) p.(=) Paternal (confirmed) - pathogenic g.66417029_66417119del g.65707136_65707226del deletion exon 1 - EYS_000305 - PubMed: Eisenberger 2014 - - Germline yes - - - - DNA SEQ-NG-I - - retinal disease - PubMed: Eisenberger 2014 - F no Germany - - - - - 1 Rob W.J. Collin
+?/. - c.(?_-538)_(862+1_863-1)del r.spl p.(?) Parent #1 - likely pathogenic g.? g.? EYS, variant 1: c.9299_9302del/p.T3100Kfs*26, variant 2 :Deletion exon 1-5 - LAMA2_000000 solved, compound heterozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ blood Sanger sequencing retinal disease 584 PubMed: Weisschuh 2020 Filing key number: 211, autosomal recessive retinitis pigmentosa, no patient Ids, consecutive numbers given F - Germany - - - - - 1 LOVD
+?/. - c.(?_-538)_(862+1_863-1)del r.spl p.(?) Parent #1 - likely pathogenic g.? g.? EYS, variant 1: c.9299_9302del/p.T3100Kfs*26, variant 2 :Deletion exon 1-5 - LAMA2_000000 solved, compound heterozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ-NG blood RET3 targeted sequencing panel - see paper retinal disease 585 PubMed: Weisschuh 2020 Filing key number: 211, autosomal recessive retinitis pigmentosa, no patient Ids, consecutive numbers given M - Germany - - - - - 1 LOVD
+/. _1_10i c.(?_-538)_(1599+1_1600-1)del r.0? p.0? Unknown ACMG pathogenic g.(66045040_66053930)_(66417118_?)del - deletion 10 initial exons - EYS_000013 - PubMed: de Castro-Miró 2016 - - Germline - - - - - DNA SEQ-NG-I Whole blood - retinal disease 68ORG1 PubMed: de Castro-Miró 2016 - F no Argentina - - - - - 1 Marta de Castro-Miró
-/. - c.-500A>G r.(?) p.(=) Unknown - benign g.66417080T>C g.65707187T>C - - EYS_000393 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/? 1 c.-462G>C r.(?) p.? Both (homozygous) - VUS g.66417042C>G g.65707149C>G - - EYS_000307 Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Barragán 2010 - - Germline - - - - - DNA PCR, SEQ - - retinal disease - PubMed: Barragán 2010 - M yes Spain Spanish - - - - 1 Rob W.J. Collin
?/? 1 c.-459C>T r.(?) p.(=) Unknown - VUS g.66417039G>A g.65707146G>A c.-459C>T - EYS_000306 Authors classified it as unlikely pathogenic; unknown variant 2nd allele PubMed: Gonzalez-del Pozo 2011 - - Germline - - - - - DNA arraySEQ - - retinal disease - PubMed: Gonzalez-del Pozo 2011 - ? ? Spain Spanish - - - - 1 Rob W.J. Collin
?/? 1 c.-459C>T r.(?) p.(=) Unknown - VUS g.66417039G>A g.65707146G>A p.? - EYS_000306 - PubMed: Pierrottet 2014 - - Germline - - - - - DNA PCR, SEQ - - retinal disease - PubMed: Pierrottet 2014 - F ? Italy north - - - - 1 Rob W.J. Collin
-?/. 1 c.-459C>T r.(=) p.(=) Unknown - likely benign g.66417039G>A - c.-459C>T - EYS_000306 - PubMed: González-del Pozo-2011 - - Germline - 20/200 controls - - - DNA arraySEQ, MLPA - - retinal disease - PubMed: González-del Pozo-2011 - - - - Spanish - - - - 1 LOVD
?/. 1 c.-459C>T r.(=) p.(=) Unknown - VUS g.66417039G>A - c.-459C>T - EYS_000306 - PubMed: Colombo-2020 - rs144371265 Germline - - - - - DNA SEQ - - retinal disease - PubMed: Colombo-2020 - F no - - - - - - 1 LOVD
?/? 1i c.-448+5G>A r.(?) p.? Paternal (confirmed) - VUS g.66417023C>T g.65707130C>T splice - EYS_000304 - PubMed: Eisenberger 2014 - - Germline yes - - - - DNA SEQ-NG-I - - retinal disease - PubMed: Eisenberger 2014 index patient M no Germany - - - - - 1 Rob W.J. Collin
?/? 1i c.-448+5G>A r.(?) p.? Paternal (confirmed) - VUS g.66417023C>T g.65707130C>T splice - EYS_000304 - PubMed: Eisenberger 2014 - - Germline - - - - - DNA SEQ-NG-I - - retinal disease - PubMed: Eisenberger 2014 sibling of patient 93 F no Germany - - - - - 1 Rob W.J. Collin
?/. - c.-448+5G>A r.spl p.? Parent #1 ACMG VUS g.66417023C>T g.65707130C>T - - EYS_000304 - PubMed: Hitti-Malin 2022, Journal: Hitti-Malin 2022 - - Germline - - - - - DNA MIPsm - smMIPs 105 iMD/AMD genes retinal disease 070682 PubMed: Hitti-Malin 2022, Journal: Hitti-Malin 2022 - M - - - - - - - 1 Rebekkah Hitti-Malin
-?/. 1i c.-448+12341_-448+17982del r.(?) p.(=) Unknown - likely benign g.66399046_66404687del g.65689153_65694794del - - EYS_000851 - PubMed: Sano 2022 - - Germline - 0.31 in house - - - DNA SEQ, SEQ-ON - - RP - PubMed: Sano 2022 - - - Japan - - - - - 10 Johan den Dunnen
-?/. - c.-447-9018A>G r.(=) p.(=) Unknown - likely benign g.66358803T>C g.65648910T>C EYS(NM_001142800.1):c.-447-9018A>G - EYS_000377 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-414G>A r.(?) p.(=) Unknown - likely benign g.66349752C>T - - - EYS_000863 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/? 2 c.-349G>T r.(?) p.(=) Unknown - VUS g.66349687C>A g.65639794C>A - - EYS_000303 unknown variant 2nd allele PubMed: Barragán 2010 - - Germline - - - - - DNA PCR, SEQ - - retinal disease - PubMed: Barragán 2010 - ? ? Spain Spanish - - - - 1 Rob W.J. Collin
-?/. - c.-333+12351T>C r.(=) p.(=) Unknown - likely benign g.66337320A>G g.65627427A>G EYS(NM_001142800.1):c.-333+12351T>C - EYS_000376 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. 2i c.-332-69291_-332-68968del r.(?) p.(=) Unknown - likely benign g.66274854_66275177del g.65564961_65565284del - - EYS_000855 - PubMed: Sano 2022 - - Germline - 0.80 in house - - - DNA SEQ, SEQ-ON - - RP - PubMed: Sano 2022 - - - Japan - - - - - 15 Johan den Dunnen
-?/. 2i c.-332-56145_-332-54151del r.(?) p.(=) Unknown - likely benign g.66260037_66262031del g.65550144_65552138del - - EYS_000850 - PubMed: Sano 2022 - - Germline - 0.81 in house - - - DNA SEQ, SEQ-ON - - RP - PubMed: Sano 2022 - - - Japan - - - - - 15 Johan den Dunnen
+?/. - c.-332-12833_748+569del r.0? p.0? Unknown ACMG likely pathogenic (recessive) g.66203993_66218725del g.65494100_65508832del - - EYS_000922 ACMG PM2, PVS1 PubMed: Weisschuh 2024 - - Germline - - - - - DNA SEQ-NG - WGS ? SRP-1067 PubMed: Weisschuh 2024 patient, no family history F - Germany - - - - - 1 Johan den Dunnen
+/+ 2i_4i c.(-333+1_-332-1)_(748+1_749-1)del r.? p.? Unknown - pathogenic g.(66200601_66204555)_(66205887_66349670)del - c.-340-?_748+?del - EYS_000042 - PubMed: Pieras 2011 - - Germline - - - - - DNA arraySNP, PCR, SEQ - - retinal disease - PubMed: Audo 2010 - F ? Greece Greek - - - - 1 Rob W.J. Collin
?/. 2i_4i c.(-333+1_-332-1)_(748+1_749-1)dup r.? p.? Unknown - VUS g.(66200601_66204555)_(66205887_66349670)dup - 340-?_748+?dup - EYS_000032 - PubMed: Pieras 2011 - - Germline - - - - - DNA MLPA, SEQ - - retinal disease - PubMed: Pieras 2011 - ? ? (Spain);(France) - - - - - 1 Rob W.J. Collin
+/+ 1i_4i c.(-448+1_-332-1)_(748+1_749-1)del r.(?) p.? Unknown - pathogenic g.(66200601_66204555)_(66205887_66417027)del - - - EYS_000024 - PubMed: Messchaert 2018, Journal: Messchaert 2018 - - Germline - - - - - DNA PCR, SEQ - - retinal disease - PubMed: Littink 2010 - M no - Curaçao - - - - 1 Rob W.J. Collin
?/. - c.-207A>G r.(=) p.(=) Parent #1 - VUS g.66205761T>C g.65495868T>C - - EYS_000564 7 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs370140172 Germline - 7/2794 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 7 Mohammed Faruq
?/? 3 c.-204G>A r.(?) p.(=) Unknown - VUS g.66205758C>T g.65495865C>T - - EYS_000302 unknown variant 2nd allele PubMed: Barragán 2010 - - Germline - - - - - DNA PCR, SEQ - - retinal disease - PubMed: Barragán 2010 - ? ? Spain Spanish - - - - 1 Rob W.J. Collin
+?/. - c.(?_-1)_(862+1_863-1)del r.? p.? Unknown - pathogenic g.(66115261_66200486)_(66205304_?)del g.(65405368_65490593)_(65495411_?)del 1-?_862+?del - EYS_000688 - - - - Germline/De novo (untested) - - - - - DNA SEQ-NG-I - - RP IR_GS_0006 - - F - Korea, South (Republic) - - - - - 1 Jinu Han
?/. 4i1i_43_ c.(8071+1_8072-1)_*616{2} r.? p.? Parent #2 - VUS g.(?_64429876)_(64436574_64472353)dup g.(?_63719980)_(63726681_63762460)dup dup ex42-43 - EYS_000901 - PubMed: Moon 2021 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel retinal disease Pat15 PubMed: Moon 2021 - - - Korea - - - - - 1 Johan den Dunnen
+?/. - c.-538_-332-5442{0} r.0? p.0? Unknown ACMG likely pathogenic g.66211328_67272783del - - - EYS_000690 - - - - Germline/De novo (untested) - - - - - DNA SEQ-NG-I - - RP IR_GH_0097 - - F - Korea, South (Republic) - - - - - 1 Jinu Han
+?/. _1_12i c.-538_2023+10906{0} r.0? p.0? Unknown ACMG likely pathogenic (recessive) g.65994850_67582755delinsT g.65284957_66872862delinsT - - EYS_000902 ACMG PM2, PVS1 PubMed: Weisschuh 2024 - - Germline - - - - - DNA SEQ-NG - WGS ? SRP-1067 PubMed: Weisschuh 2024 patient, no family history F - Germany - - - - - 1 Johan den Dunnen
?/. _1_5i c.-538_862+10652{1}inv r.? p.? Unknown ACMG VUS g.66189835_67841160inv g.65479942_67131267inv - - EYS_000905 ACMG PM2; no variant 2nd chromosome PubMed: Weisschuh 2024 - - Germline - - - - - DNA SEQ-NG - WGS ? SRP-1299 PubMed: Weisschuh 2024 patient M - Germany - - - - - 1 Johan den Dunnen
+?/. - c.-538_863-23447{0} r.0? p.0? Parent #1 - likely pathogenic g.66138707_66790596del - del ex1-4, chr6:66138707-66790596del - EYS_000619 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 268 PubMed: Stone 2017 family, 2 affected M - (United States) - - - - - 2 LOVD
+?/. - c.? r.(?) p.(Gly3131Ala) Unknown ACMG likely pathogenic g.64430535C>G - NM_001292009.1:c.9392G>C - EYS_000494 - PubMed: Sharon 2019 - - Germline - 1/2420 IRD families - - - DNA SEQ - - retinal disease - PubMed: Sharon 2019 1 IRD family - - Israel - - - - - 1 Global Variome, with Curator vacancy
+/. - c.? r.(?) p.(Val3117Leufs*28) Unknown ACMG pathogenic g.64430569_64430578del - NM_001292009.1:c.9349_9358del - EYS_000397 - PubMed: Sharon 2019 - - Germline - 2/2420 IRD families - - - DNA SEQ - - retinal disease - PubMed: Sharon 2019 2 IRD families - - Israel - - - - - 2 Global Variome, with Curator vacancy
+/. - c.? r.(?) p.(Asn3096Leufs*2) Unknown ACMG pathogenic g.64430632_64430641del - NM_001292009.1:c.9286_9295del - EYS_000397 - PubMed: Sharon 2019 - - Germline - 4/2420 IRD families - - - DNA SEQ - - retinal disease - PubMed: Sharon 2019 4 IRD families - - Israel - - - - - 4 Global Variome, with Curator vacancy
+?/. - c.? r.(?) p.(Val2892Ala) Unknown ACMG likely pathogenic g.64431252G>A - NM_001292009.1:c.8675T>C - EYS_000397 - PubMed: Sharon 2019 - - Germline - 1/2420 IRD families - - - DNA SEQ - - retinal disease - PubMed: Sharon 2019 1 IRD family - - Israel - - - - - 1 Global Variome, with Curator vacancy
+?/. - c.? r.(?) p.(Leu2773_Asn2775delinsTyr) Unknown ACMG likely pathogenic g.64431604_64431609del - NM_001292009.1:c.8318_8323del - EYS_000397 - PubMed: Sharon 2019 - - Germline - 1/2420 IRD families - - - DNA SEQ - - retinal disease - PubMed: Sharon 2019 1 IRD family - - Israel - - - - - 1 Global Variome, with Curator vacancy
+/. - c.? r.(?) p.(Gln2744Argfs*18) Unknown ACMG pathogenic g.64436414del - NM_001292009.1:c.8231del - EYS_000397 - PubMed: Sharon 2019 - - Germline - 1/2420 IRD families - - - DNA SEQ - - retinal disease - PubMed: Sharon 2019 1 IRD family - - Israel - - - - - 1 Global Variome, with Curator vacancy
+/. - c.? r.(?) p.(Gln2744*) Unknown ACMG pathogenic g.64436415G>A - NM_001292009.1:c.8230C>T - EYS_000397 - PubMed: Sharon 2019 - - Germline - 1/2420 IRD families - - - DNA SEQ - - retinal disease - PubMed: Sharon 2019 1 IRD family - - Israel - - - - - 1 Global Variome, with Curator vacancy
+/. - c.? r.(?) p.(His2740Tyrfs*27) Unknown ACMG pathogenic g.64436426_64436427del - NM_001292009.1:c.8218_8219del - EYS_000397 - PubMed: Sharon 2019 - - Germline - 6/2420 IRD families - - - DNA SEQ - - retinal disease - PubMed: Sharon 2019 6 IRD families - - Israel - - - - - 6 Global Variome, with Curator vacancy
+/. - c.? r.(?) p.(Asn2723Metfs*39) Unknown ACMG pathogenic g.64436477del - NM_001292009.1:c.8168del - EYS_000397 - PubMed: Sharon 2019 - - Germline - 1/2420 IRD families - - - DNA SEQ - - retinal disease - PubMed: Sharon 2019 1 IRD family - - Israel - - - - - 1 Global Variome, with Curator vacancy
+/. - c.? r.(?) p.(Asn2723Metfs*39) Unknown ACMG pathogenic g.64436477del - NM_001292009.1:c.8168del - EYS_000397 - PubMed: Sharon 2019 - - Germline - 2/2420 IRD families - - - DNA SEQ - - retinal disease - PubMed: Sharon 2019 2 IRD families - - Israel - - - - - 2 Global Variome, with Curator vacancy
+/. - c.? r.? p.(Lys251_Gly2766del) Unknown ACMG pathogenic g.? - NM_001292009.1:c.749_8296del - LAMA2_000000 - PubMed: Sharon 2019 - - Germline - 1/2420 IRD families - - - DNA SEQ - - retinal disease - PubMed: Sharon 2019 1 IRD family - - Israel - - - - - 1 Global Variome, with Curator vacancy
+?/. - c.? r.? p.? Parent #2 - likely pathogenic g.? - del ex32 - LAMA2_000000 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 196 PubMed: Stone 2017 family, 3 affected M - (United States) - - - - - 3 LOVD
+/. 14i_19i c.? r.? p.? Parent #1 - pathogenic g.? - del ex15-19 - LAMA2_000000 no variant 2nd chromosome PubMed: Bravo-Gil 2017 - - Germline - - - - - DNA SEQ-NG - 68-gene panel retinal disease Pat57 PubMed: Bravo-Gil 2017 - - - Spain - - - - - 1 Nereida Bravo Gil
+/. 31i_33i c.? r.? p.? Parent #1 - pathogenic g.? - del ex32-33 - LAMA2_000000 no variant 2nd chromosome PubMed: Bravo-Gil 2017 - - Germline - - - - - DNA SEQ-NG - 68-gene panel retinal disease Pat19 PubMed: Bravo-Gil 2017 - - - Spain - - - - - 1 Nereida Bravo Gil
+?/. - c.? r.? p.? Both (homozygous) - likely pathogenic (recessive) g.? - del ex15-22 - LAMA2_000000 - PubMed: Weisschuh 2016 - - Germline - - - - - DNA SEQ-NG - gene panel retinal disease ARRP28 PubMed: Weisschuh 2016 family - - Germany - - - - - 1 LOVD
?/. - c.? r.? p.? Unknown - VUS g.? - NM_001142800.1:c.1849G>A (V617I) - LAMA2_000000 - PubMed: Xu 2014 - - Germline - 1/314 case chromosomes - - - DNA SEQ-NG - gene panel retinal disease RP285 PubMed: Xu 2014 - - - China - - - - - 1 LOVD
+?/. - c.? r.? p.? Both (homozygous) - likely pathogenic g.? - exon 14 del - LAMA2_000000 - PubMed: Wang 2014 - - Germline - - - - - DNA SEQ-NG - 66-gene panel retinal disease 13 PubMed: Wang 2014 - F - United States - - - - - 1 LOVD
+?/. - c.? r.0? p.0? Unknown - likely pathogenic g.64756070_64780034del - chr6:g.64756070_64780034del - EYS_000397 heterozygous PubMed: Turro 2020 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG-I blood whole genome sequencing retinal disease W000239 PubMed: Turro 2020 only individuals with mutations in retinal disease genes from this publication were inserted into LOVD ? - - - - - - - 1 LOVD
+?/. - c.? r.(?) p.(Tyr2555fs) Unknown - likely pathogenic g.? g.? EYS p.(Tyr2555fs) - LAMA2_000000 only protein changes written in the publication; Mutalyzer Back Translator used for coding DNA variant (impossible in case of frameshift mutations); compound heterozygous PubMed: Koyanagi 2020 - - Unknown ? - - - - DNA ? - retrospective study retinal disease N-224 PubMed: Koyanagi 2020 - M - Japan - - - - - 1 LOVD
+?/. - c.? r.(?) p.(Asp498fs) Unknown - likely pathogenic g.? g.? EYS p.(Asp498fs) - LAMA2_000000 only protein changes written in the publication; mutation coding DNA extrapolated from other publications and databases; compound heterozygous PubMed: Koyanagi 2020 - - Unknown ? - - - - DNA ? - retrospective study retinal disease N-303 PubMed: Koyanagi 2020 - F - Japan - - - - - 1 LOVD
+?/. - c.? r.(?) p.(Gln3101fs) Both (homozygous) - likely pathogenic g.? g.? EYS p.(Gln3101fs) - LAMA2_000000 only protein changes written in the publication; Mutalyzer Back Translator used for coding DNA variant (impossible in case of frameshift mutations); homozygous PubMed: Koyanagi 2020 - - Unknown ? - - - - DNA ? - retrospective study retinal disease OPH-552 PubMed: Koyanagi 2020 - F - Japan - - - - - 1 LOVD
+?/. - c.? r.(?) p.? Parent #2 - likely pathogenic g.? g.? EYS c.4402_4403ins - LAMA2_000000 error in annotation - no inserted nucleotides written; compound heterozygous PubMed: Hirashima 2017 - - Unknown ? - - - - DNA SEQ blood - retinal disease 10 (EYS-RP group) PubMed: Hirashima 2017 - F - - - - - - - 1 LOVD
?/. 22_26 c.? r.spl? p.? Unknown - VUS g.65301508_65523398del - c.3317-?_4251+? - EYS_000397 - PubMed: Mucciolo 2018 - - Germline - - - - - DNA SEQ-NG, SEQ peripheral blood leukocytes - retinal disease P6 PubMed: Mucciolo_2018 - - - Italy Italian - - - - 1 LOVD
+?/. - c.14C>A r.(?) p.(Ser5*) Maternal (confirmed) - likely pathogenic g.66205290G>T g.65495397G>T NM_001142800, c.14C>A, p.Ser5Ter - EYS_000689 - PubMed: Ezquerra-Inchausti 2018 - - Germline yes - - - - DNA SEQ-NG blood - retinal disease II:1 PubMed: Ezquerra-Inchausti 2018 Family RP106, II:1 ? no Spain - - - - - 1 LOVD
-?/. - c.16A>G r.(?) p.(Ile6Val) Unknown - likely benign g.66205288T>C g.65495395T>C EYS(NM_001292009.2):c.16A>G (p.I6V) - EYS_000375 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.19G>A r.(?) p.(Val7Ile) Unknown - likely benign g.66205285C>T g.65495392C>T EYS(NM_001292009.1):c.19G>A (p.V7I) - EYS_000549 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 4 c.32dup r.(?) p.(Met12Aspfs*14) Paternal (confirmed) - pathogenic g.66205272dup g.65495379dup - - EYS_000006 - PubMed: Abu-Safieh-2013 - - Germline - - - - - DNA SEQ - - retinal disease - PubMed: Abu-Safieh-2013 - - - - - - - - - 1 Leen Abu Safieh
+/. 4 c.32dup r.(?) p.(Met12Aspfs*14) Parent #2 - pathogenic g.66205272dup g.65495379dup - - EYS_000006 - PubMed: Abu-Safieh-2013 - - Germline - - - - - DNA SEQ - - retinal disease - PubMed: Abu-Safieh-2013 - - - - - - - - - 1 Leen Abu Safieh
+/+ 4 c.32dup r.(?) p.(Met12Aspfs*14) Both (homozygous) - pathogenic g.66205272dup g.65495379dup p.(Met12Aspfs*14) - EYS_000006 - PubMed: Abu-Safieh 2013 - - Germline - ExAC: 3, 120918, 0, 0.00002481 - - - DNA SEQ-NG-I - - retinal disease - PubMed: Abu-Safieh 2013 - - - - - - - - - 1 Rob W.J. Collin
+/+ 4 c.32dup r.(?) p.(Met12Aspfs*14) Unknown - pathogenic g.66205272dup g.65495379dup p.L11fsX15 - EYS_000006 - PubMed: Glöckle 2014 - - Germline - ExAC: 3, 120918, 0, 0.00002481 - - - DNA SEQ-NG-S - - retinal disease - PubMed: Glöckle 2014 - ? ? - white - - - - 1 Rob W.J. Collin
+/+ 4 c.32dup r.(?) p.(Met12Aspfs*14) Both (homozygous) - pathogenic g.66205272dup g.65495379dup p.(Met12Aspfs*14) - EYS_000006 - PubMed: Messchaert 2018, Journal: Messchaert 2018 - - Germline - - - - - DNA SEQ-NG - - retinal disease - PubMed: Messchaert 2018, Journal: Messchaert 2018 - ? - Netherlands Dutch - - - - 1 Rob W.J. Collin
+/. - c.32dup r.(?) p.(Met12AspfsTer14) Unknown - pathogenic g.66205272dup g.65495379dup EYS(NM_001142800.1):c.32dupT (p.M12Dfs*14) - EYS_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.32dup r.(?) p.(Met12Aspfs*14) Parent #1 - likely pathogenic g.66205272dup g.65495379dup EYS, variant 1: c.32dup/p.M12Dfs*14, variant 2: c.6571+1G>A/p.? - EYS_000006 error in annotation, variant matches transcript NM_001142800.1 and not the indicated NM_001292009.1, solved, compound heterozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ-NG blood RET1 targeted sequencing panel - see paper retinal disease 479 PubMed: Weisschuh 2020 Filing key number: 157, autosomal recessive retinitis pigmentosa, no patient Ids, consecutive numbers given F - Germany - - - - - 1 LOVD
+/. 4 c.32dup r.(?) p.(Met12Aspfs*14) Unknown - pathogenic (recessive) g.66205272dup - c.32dup - EYS_000006 - PubMed: Colombo-2020 - rs779372264 Germline - - - - - DNA SEQ - - retinal disease - PubMed: Colombo-2020 - M no - - - - - - 1 LOVD
+?/. 4 c.32dup r.(?) p.(Met12Aspfs*14) Both (homozygous) - likely pathogenic (recessive) g.66205272dup - c.32dupT - EYS_000006 - PubMed: McGuigan 2017 - - Germline - - - - - DNA SEQ-NG, SEQ - - retinal disease P6 PubMed: McGuigan 2017 - M - - East Indian/Iranian - - - - 1 LOVD
?/. 4 c.32dup r.(?) p.(Met12Aspfs*14) Unknown - VUS g.66205272dup - c.32dup (p. Met12Aspfs*14) - EYS_000006 - PubMed: Mucciolo 2018 - - Germline - - - - - DNA SEQ-NG, SEQ peripheral blood leukocytes - retinal disease P4 PubMed: Mucciolo_2018 - - - Italy Italian - - - - 1 LOVD
+/. - c.32dup r.(?) p.(Met12Aspfs*14) Parent #1 - pathogenic (recessive) g.66205272dup g.65495379dup 32_33insT - EYS_000006 - PubMed: Jimenez 2022 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - gene panel retinal disease Pat4 PubMed: Jimenez 2022 - M - United States - - - - - 1 Johan den Dunnen
?/? 4 c.35T>C r.(?) p.(Met12Thr) Unknown - VUS g.66205269A>G g.65495376A>G p.M12T - EYS_000301 - PubMed: Arai 2015 - - Germline - ExAC: 9, 120958, 0, 0.00007441 - - - DNA SEQ - - retinal disease - PubMed: Arai 2015 - ? ? Japan Japanese - - - - 1 Rob W.J. Collin
+/. - c.35T>C r.(?) p.(Met12Thr) Unknown - pathogenic g.66205269A>G g.65495376A>G - - EYS_000301 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs755947942 Germline - 2/1204 cases with retinitis pigmentosa - - - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - 2 Yoshito Koyanagi
?/. - c.35T>C r.(?) p.(Met12Thr) Unknown - VUS g.66205269A>G g.65495376A>G - - EYS_000301 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.35T>C r.(?) p.(Met12Thr) Both (homozygous) - likely pathogenic g.66205269A>G g.65495376A>G - - EYS_000301 - PubMed: Bravo-Gil 2017 - - Germline - - - - - DNA SEQ-NG - 68-gene panel retinal disease Pat56 PubMed: Bravo-Gil 2017 patient - - Spain - - - - - 1 Nereida Bravo Gil
+?/. - c.35T>C r.(?) p.(Met12Thr) Unknown - likely pathogenic g.66205269A>G g.65495376A>G EYS p.(Met12Thr) - EYS_000301 only protein changes written in the publication; Mutalyzer Back Translator used for coding DNA variant (impossible in case of frameshift mutations); compound heterozygous PubMed: Koyanagi 2020 - - Unknown ? - - - - DNA ? - retrospective study retinal disease OPH-293 PubMed: Koyanagi 2020 - F - Japan - - - - - 1 LOVD
?/. 4 c.35T>C r.(?) p.(Met12Thr) Parent #1 - VUS g.66205269A>G - c.35T>C - EYS_000301 - PubMed: Panneman 2023 - - Unknown - - - - - DNA SEQ - RP-LCA smMIPs sequencing RP - PubMed: Panneman 2023 - F - - - - - - - 1 Daan Panneman
?/. - c.57A>G r.(?) p.(Ile19Met) Unknown - VUS g.66205247T>C g.65495354T>C EYS(NM_001292009.2):c.57A>G (p.I19M) - EYS_000548 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 4 c.67del r.(?) p.(Thr23Hisfs*19) Unknown - pathogenic g.66205241del g.65495348del p.Thr23Hisfs*19 - EYS_000300 - PubMed: Eisenberger 2014 - - Germline - - - - - DNA SEQ-NG-I - - retinal disease - PubMed: Eisenberger 2014 inheritance familial, autosomal recessive/X-linked M no Germany - - - - - 1 Rob W.J. Collin
+?/. - c.67dup r.(?) p.(Thr23Asnfs*3) Parent #1 - likely pathogenic g.66205241dup g.65495348dup EYS, variant 1: c.67dup/p.T23Nfs*3, variant 2: c.67dup/p.T23Nfs*3 - EYS_000765 error in annotation, variant matches transcript NM_001142800.1 and not the indicated NM_001292009.1, solved, homozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ-NG blood RET9 targeted sequencing panel - see paper retinal disease 922 PubMed: Weisschuh 2020 Filing key number: 394, autosomal recessive retinitis pigmentosa, no patient Ids, consecutive numbers given F - Germany - - - - - 1 LOVD
?/? 4 c.77G>A r.(?) p.(Arg26Gln) Unknown - VUS g.66205227C>T g.65495334C>T p.R26Q - EYS_000299 unknown variant 2nd allele PubMed: Hosono 2012 - - Germline - - - - - DNA PCR, SEQ - - retinal disease - PubMed: Hosono 2012 - - ? Japan Japanese - - - - 1 Rob W.J. Collin
+/. - c.77G>A r.(?) p.(Arg26Gln) Unknown - pathogenic g.66205227C>T g.65495334C>T - - EYS_000299 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs528733427 Germline - 2/1204 cases with retinitis pigmentosa - - - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - 2 Yoshito Koyanagi
+/+ 4 c.78_79dup r.(?) p.(Gln27Argfs*16) Unknown - pathogenic g.66205225_66205226dup g.65495332_65495333dup p.Q27Rfsx16 - EYS_000298 unknown variant 2nd allele PubMed: Barragán 2010 - - Germline - - - - - DNA PCR, SEQ - - retinal disease - PubMed: Barragán 2010 - ? ? Spain Spanish - - - - 1 Rob W.J. Collin
?/. - c.91G>A r.(?) p.(Glu31Lys) Unknown - VUS g.66205213C>T g.65495320C>T - - EYS_000670 - PubMed: Wang 2014 - - Germline - - - - - DNA SEQ-NG - 66-gene panel retinal disease 48 PubMed: Wang 2014 - M - United States - - - - - 1 LOVD
+/. - c.95G>T r.(?) p.(Trp32Leu) Parent #2 - pathogenic (recessive) g.66205209C>A g.65495316C>A 9036delT (W32L) - EYS_000937 - PubMed: Jimenez 2022 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - gene panel retinal disease Pat4 PubMed: Jimenez 2022 - M - United States - - - - - 1 Johan den Dunnen
+/+ 4 c.103C>T r.(?) p.(Gln35*) Unknown - pathogenic g.66205201G>A g.65495308G>A p.(Gln35*) - EYS_000297 - PubMed: Haer-Wigman 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease - PubMed: Haer-Wigman 2017 - ? no Netherlands Dutch - - - - 1 Rob W.J. Collin
+/. - c.103C>T r.(?) p.(Gln35Ter) Unknown - pathogenic g.66205201G>A g.65495308G>A EYS(NM_001292009.2):c.103C>T (p.Q35*) - EYS_000297 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.103C>T r.(?) p.(Gln35Ter) Unknown - pathogenic g.66205201G>A g.65495308G>A EYS(NM_001292009.2):c.103C>T (p.Q35*) - EYS_000297 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 4 c.113C>G r.(?) p.(Ser38*) Parent #1 - likely pathogenic g.66205191G>C - c.113C>G - EYS_000885 - PubMed: Panneman 2023 - - Unknown - - - - - DNA SEQ - RP-LCA smMIPs sequencing RP - PubMed: Panneman 2023 - F - - - - - - - 1 Daan Panneman
+/. - c.116_117del r.(?) p.(Tyr39Cysfs*26) Unknown - pathogenic g.66205189_66205190del g.65495296_65495297del - - EYS_000490 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - - Germline - 1/1204 cases with retinitis pigmentosa - - - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - 1 Yoshito Koyanagi
?/? 4 c.141A>T r.(?) p.(Glu47Asp) Unknown - VUS g.66205163T>A g.65495270T>A p.E47D - EYS_000296 - PubMed: Katagiri 2014 - - Germline - - - - - DNA SEQ-NG-I - - retinal disease - PubMed: Katagiri 2014 index patient M no Japan Japanese - - - - 1 Rob W.J. Collin
?/? 4 c.141A>T r.(?) p.(Glu47Asp) Unknown - VUS g.66205163T>A g.65495270T>A p.E47D - EYS_000296 - PubMed: Arai 2015 - - Germline - - - - - DNA SEQ - - retinal disease - PubMed: Arai 2015 - ? ? Japan Japanese - - - - 1 Rob W.J. Collin
+/. - c.141A>T r.(?) p.(Glu47Asp) Unknown - pathogenic g.66205163T>A g.65495270T>A - - EYS_000296 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs267601099 Germline - 3/1204 cases with retinitis pigmentosa - - - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - 3 Yoshito Koyanagi
+/+ 4 c.162C>A r.(?) p.(Tyr54*) Unknown - pathogenic g.66205142G>T g.65495249G>T p.Tyr54* - EYS_000295 - PubMed: Eisenberger 2014 - - Germline - - - - - DNA SEQ-NG-I - - retinal disease - PubMed: Eisenberger 2014 inheritance familial, autosomal recessive/X-linked M no Germany - - - - - 1 Rob W.J. Collin
+?/. - c.179del r.(?) p.(Leu60TrpfsTer3) Unknown - likely pathogenic g.66205129del g.65495236del - - EYS_000644 - PubMed: Patel 2016 - - Germline - - - - - DNA SEQ-NG - gene panel retinal disease 10DG1649 PubMed: Patel 2016 - - - Saudi Arabia - - - - - 1 LOVD
+?/. - c.205_206insAAACTGGCAT r.(?) p.(Ser69*) Unknown - likely pathogenic g.66205099_66205100insTGCCAGTTTA g.65495206_65495207insTGCCAGTTTA EYS p.(Ser69fs) - EYS_000766 only protein changes written in the publication; mutation coding DNA extrapolated from other publications and databases; compound heterozygous PubMed: Koyanagi 2020 - - Unknown ? - - - - DNA ? - retrospective study retinal disease OPH-51 PubMed: Koyanagi 2020 - F - Japan - - - - - 1 LOVD
+/. - c.206del r.(?) p.(Ser69*) Unknown - pathogenic g.66205098del g.65495205del - - EYS_000489 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - - Germline - 1/1204 cases with retinitis pigmentosa - - - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - 1 Yoshito Koyanagi
+?/. - c.216delA r.spl p.(Ala73LeufsTer12) Parent #2 - likely pathogenic (recessive) g.66205089del g.65495196del - - EYS_000947 - PubMed: Hussain 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - WGS retinal disease MEP-123 PubMed: Hussain 2023 2-generation family, 1 affected, unaffected parents F - United States white - - - - 1 Johan den Dunnen
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