Unique variants in the RPE65 gene

This database is one of the "Eye disease" gene variant databases.
Information The variants shown are described using the NM_000329.2 transcript reference sequence.

352 entries on 4 pages. Showing entries 1 - 100.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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     

Owner     
+?/. 1 - c.(?_-1)_1128+1_1129-1)del r.spl p.(?) - likely pathogenic g.? g.? Allele 1 c.(?_-1)_(1128+1_1129���������1)del, Allele 2 c - NPHS2_000000 homozygous PubMed: Khan 2019 - - Germline/De novo (untested) ? - - - - LOVD
+/., -/. 3 - c.? r.(?), r.? p.? - benign, pathogenic (dominant) g.? - Asp477Gly, gi3077820:1056G>A, gi3077820:IVS12+20A>C - NPHS2_000000 - PubMed: Daiger 2014, PubMed: Morimura 1998; PubMed: Booij 2005 - - Germline - - - - - Julia Lopez
+?/. 1 - c.-330_1128+252del r.spl p.(?) - likely pathogenic g.68903618_68915918del g.68437935_68450235del RPE65 chr1:68903619_68915919del - RPE65_000318 start loss, range 11717-92433 bp in various techniques, homozygous PubMed: Zampaglione-2020 - - Unknown ? - - - - LOVD
?/? 1 1 c.-4G>A r.(?) p.(?) - VUS g.68915592C>T g.68449909C>T IVS1(-4) G>A - RPE65_000137 unknown variant 2ndchromosome PubMed: Dharmaraj 2000 - - Germline yes 1/100 cases - - - Muhammad Ajmal
+/. 1 - c.(879_887)? r.(?) p.(Lys294ins?) - pathogenic (recessive) g.(68904736_68904744)? g.(68439053_68439061)? Lys294ins? - RPE65_000000 - PubMed: Chung 2019 - - Germline - - - - - LOVD
+?/. 1 _1_14_ c.-54_*952{0} r.? p.? - likely pathogenic (recessive) g.(?_68895454)_(68915593_?)del - c.(?_-1)_(*1_?)del - RPE65_000320 - PubMed: Ellingsford 2018 - - Germline - - - - - LOVD
+/. 1 - c.11+2T>V r.spl p.? - pathogenic (recessive) g.68915576A>B g.68449893A>B c.11+2T>? - RPE65_000000 - PubMed: Chung 2019 - - Germline - - - - - LOVD
?/? 3 1 c.2T>C r.(?) p.(Met1?) - VUS g.68915587A>G g.68449904A>G 56T->c, M1T - RPE65_000136 - PubMed: Morimura 1998, PubMed: Thompson 2000 - - Germline yes - HpyCH4IV+ - - Muhammad Ajmal
+?/. 1 - c.10del r.(?) p.(Gln4Argfs*27) - likely pathogenic g.68915579del g.68449896del c.10delC - RPE65_000205 - PubMed: Holtan 2020 - - Germline - 1/899 cases - - - Global Variome, with Curator vacancy
+/+ 1 1i c.11+1G>T r.spl p.? - pathogenic (recessive) g.68915577C>A g.68449894C>A - - RPE65_000135 - PubMed: Jacobson 2012 - - Germline yes - - - - Muhammad Ajmal
+?/. 1 - c.11+2T>G r.spl p.? - likely pathogenic (recessive) g.68915576A>C g.68449893A>C - - RPE65_000204 - PubMed: Holtan 2020 - - Germline - 2/899 cases - - - Global Variome, with Curator vacancy
+/+, +/., +?/+?, +?/., ?/., ?/? 87 1i c.11+5G>A r.spl, r.spl? p.(?), p.? ACMG likely pathogenic, likely pathogenic (recessive), pathogenic, pathogenic (recessive), VUS g.68915573C>T g.68449890C>T 12+4G>A, SPLICE, 1590delC, 1:68915573C>T ENST00000262340.5:c.11+5G>A, 65 + 5g>a, 11 more items - RPE65_000058 heterozygous, homozygous, ACMG unclassified - no access to supplementary table 2, 4 more items Tracewska 2021, MolVis in press, PubMed: Booij 2005, PubMed: Carss 2017, PubMed: Chung 2019, 34 more items - - CLASSIFICATION record, Germline, Germline/De novo (untested), Uniparental disomy, paternal allele, 1 more item ?, yes 0,0002 (in-house database, ~5000 samples), 1/143 cases, 2/110 cases, 2/18 chromosomes, 2/8 chromosomes, 1 more item -, ? - - Johan den Dunnen, Muhammad Ajmal, VKGL-NL_Nijmegen
+/+ 1 1i c.12-2A>G r.spl p.? - pathogenic (recessive) g.68914391T>C g.68448708T>C - - RPE65_000134 - PubMed: Ripamonti 2014 - - Germline yes 1/18 chromosomes - - - Muhammad Ajmal
+/+ 2 2 c.16G>T r.(?) p.(Glu6*) - pathogenic (recessive) g.68914385C>A g.68448702C>A - - RPE65_000133 unknown variant 2ndchromosome PubMed: Henderson 2007, PubMed: Ripamonti 2014 - - Germline yes 1/18 chromosomes - - - Muhammad Ajmal
+?/. 1 2 c.46_49del r.(?) p.(Phe16Lysfs*14) - likely pathogenic (recessive) g.68914354_68914357del g.68448671_68448674del 46_49delTTTG - RPE65_000009 - - - - Germline - - - - - Soumittra Nagasamy
+?/. 1 - c.47T>C r.(?) p.(Phe16Ser) ACMG likely pathogenic g.68914354A>G g.68448671A>G RPE65 NM_000329: g.1289T>C, c.47T>C, p.F16S - RPE65_000316 - PubMed: Xu 2020 - - Germline yes - - - - LOVD
-/., -?/. 2 - c.48T>C r.(?) p.(Phe16=) - benign, likely benign g.68914353A>G g.68448670A>G RPE65(NM_000329.2):c.48T>C (p.F16=) - RPE65_000199 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_AMC
+/+ 2 2 c.57_58del r.(?) p.(Glu20Glyfs*31) - pathogenic (recessive) g.68914343_68914344del g.68448660_68448661del p.(Val19Valfs*31), V19del2bp - RPE65_000132 - PubMed: Dharmaraj 2000, PubMed: Koenekoop 2014 - - Germline yes 1/100 cases, 2/14 chromosomes SfcI+;BsaXI (2) -, SfcI+;BsaXI (2)- - - Muhammad Ajmal
+/. 2 2 c.61del r.(?) p.(Glu21Asnfs*10) ACMG pathogenic, pathogenic (recessive) g.68914341del g.68448658del 61delG - RPE65_000192 ACMG PVS1, PM2, PM3, PP2, PP4 PubMed: Zenteno 2020 - - Germline - 1/143 cases - - - Johan den Dunnen, Juan Carlos Zenteno
+/. 2 - c.61G>T r.(?) p.(Glu21*) ACMG pathogenic, pathogenic (recessive) g.68914340C>A g.68448657C>A RPE65 c.61G>T; p.GIu21Ter - RPE65_000272 heterozygous PubMed: Chung 2019, PubMed: Sallum 2020 - - Germline, Unknown ? - - - - LOVD
+/., +?/+?, ?/. 5 2 c.65T>C r.(?) p.(Leu22Pro) ACMG likely pathogenic (recessive), pathogenic, VUS g.68914336A>G g.68448653A>G 119T>C, RPE65 c.65T>C; p.Leu22Pro - RPE65_000151 heterozygous PubMed: Bernardis 2016, PubMed: Marlhens 1998, PubMed: Hamel 2001, PubMed: Sallum 2020, 1 more item - - Germline, Unknown ?, yes 1/184 NlaIV+ - - Muhammad Ajmal
+/., +?/+?, +?/. 6 2 c.74C>T r.(?) p.(Pro25Leu) - likely pathogenic, likely pathogenic (recessive), pathogenic (recessive) g.68914327G>A g.68448644G>A 1:68914327G>A ENST00000262340.5:c.74C>T (Pro25Leu), n.128C>T, RPE65 c.74C>T, p.Pro25Leu - RPE65_000150 heterozygous PubMed: Carss 2017, PubMed: Chung 2019, PubMed: Lorenz 2008, PubMed: Turro 2020 - - Germline, Germline/De novo (untested) ?, yes - ApeKI+;BbvI+;TseI+;AciI-;BsrBI- - - Muhammad Ajmal
+/+ 1 2 c.89dup r.(?) p.(Thr31Asnfs*21) - pathogenic (recessive) g.68914312dup g.68448629dup Ins144T - RPE65_000148 - PubMed: Gu 1997 - - Germline yes - HincII+;HpaI+;Hpy166II+;MseI+ - - Muhammad Ajmal
?/., ?/? 2 2 c.89T>C r.(?) p.(Val30Ala) - VUS g.68914312A>G g.68448629A>G - - RPE65_000149 - PubMed: Wang 2014 - - Germline yes - HpyCH4V+ - - Muhammad Ajmal
+/+, +?/. 2 2 c.90_91insT r.(?) p.(Thr31Tyrfs*21), p.(Thr31TyrfsTer21) - likely pathogenic, pathogenic (recessive) g.68914310_68914311insA g.68448627_68448628insA 144insT, RPE65 p.T31NfsX21 (c.90insT) - RPE65_000147 1 more item PubMed: Preising 2007, PubMed: Thompson 2000 - - Germline yes - MseI+ - - Muhammad Ajmal
+/. 4 - c.94G>T r.(?), r.spl? p.(Gly32Cys) - pathogenic (recessive) g.68914307C>A g.68448624C>A G32C - RPE65_000227 - PubMed: Chung 2019, PubMed: Li 2019, PubMed: Zhong 2019 - - Germline - - - - - LOVD
?/? 1 2i c.94+10A>G r.spl? p.(?) - VUS g.68914297T>C g.68448614T>C - - RPE65_000146 1 more item PubMed: Henderson 2007 - - Germline yes - - - - Muhammad Ajmal
-?/. 2 - c.95-10T>A r.(=) p.(=) - likely benign g.68912553A>T g.68446870A>T RPE65(NM_000329.2):c.95-10T>A - RPE65_000198 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_AMC
+?/+? 3 2i c.95-3C>G r.spl? p.? - likely pathogenic (recessive) g.68912546G>C g.68446863G>C - - RPE65_000144 - PubMed: Jakobsson 2014 - - Germline yes 8/362 chromosomes - - - Muhammad Ajmal
+/+ 4 2i c.95-2A>C r.spl p.? - pathogenic (recessive) g.68912545T>G g.68446862T>G - - RPE65_000139 - PubMed: Jacobson 2008, PubMed: Jacobson 2009 - - Germline - - - - - Muhammad Ajmal
+/+, +/. 12 2i c.95-2A>T r.spl, r.spl? p.? ACMG pathogenic, pathogenic (recessive) g.68912545T>A g.68446862T>A c.95-2A>T - RPE65_000141 - Sharon, submitted, PubMed: Avila Fernandez 2010, PubMed: Chung 2019, PubMed: Hanein 2004, 4 more items - - Germline yes 1/143 cases, 1/2420 IRD families, 14/2420 IRD families -, ? - - Global Variome, with Curator vacancy, Johan den Dunnen, Dror Sharon, Muhammad Ajmal
+/+, +/. 5 2i c.95-1G>A r.spl p.? - pathogenic (recessive) g.68912544C>T g.68446861C>T - - RPE65_000116 - PubMed: Kabir 2013, PubMed: Li 2017 - - Germline yes 16/440 chromosomes - - - Muhammad Ajmal, James Hejtmancik
+?/+? 1 3 c.95G>T r.(?) p.(Gly32Val) - likely pathogenic (recessive) g.68912543C>A g.68446860C>A - - RPE65_000115 - PubMed: Sitorus 2003 - - Germline yes - Hpy188III+;HpyCH4III+ - - Muhammad Ajmal
+/+ 1 3 c.97_116del r.(?) p.(Ile34Glnfs*11) - pathogenic (recessive) g.68912523_68912542del g.68446840_68446859del 97del20bp - RPE65_000113 - PubMed: Jacobson 2009 - - Germline - - ;DpnII-;HphI-;MboI-;MnlI-;NlaIV-;Sau3AI- - - Muhammad Ajmal
-?/. 1 - c.102C>A r.(?) p.(Ile34=) - likely benign g.68912536G>T g.68446853G>T RPE65(NM_000329.2):c.102C>A (p.I34=) - RPE65_000197 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 3 c.104C>T r.(?) p.(Pro35Leu) - pathogenic g.68912534G>A - c.104C>T - RPE65_000327 - PubMed: Salmaninejad-202 - - Unknown - - - - - LOVD
+?/. 1 3 c.106del r.(?) p.(Leu36Serfs*58) - likely pathogenic g.68912532del - c.106del (p.(Leu36Serfs*58)) - RPE65_000329 - PubMed: SkorczykWerner-2020 - - Germline - - - - - LOVD
+/+ 1 3 c.106_114del r.(?) p.(Leu36_Leu38del) - pathogenic (recessive) g.68912525_68912533del g.68446842_68446850del (106del9bp) - RPE65_000114 - PubMed: Sitorus 2003 - - Germline yes - HphI-;MnlI- - - Muhammad Ajmal
?/. 1 - c.110G>C r.(?) p.(Trp37Ser) ACMG VUS g.68912528C>G g.68446845C>G allele 1: c.110G>C/p.W37S, allele 2: c.722A>G/p.H241R - RPE65_000298 heterozygous PubMed: Weisschuh 2018 - - Germline ? - - - - LOVD
-?/. 1 - c.117C>T r.(?) p.(Thr39=) - likely benign g.68912521G>A - RPE65(NM_000329.2):c.117C>T (p.T39=) - RPE65_000202 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/., +?/+?, +?/. 26 3 c.(118G>A), c.118G>A -, r.(?) p.(Gly40Ser), p.Gly40Ser ACMG likely pathogenic, likely pathogenic (recessive), NA, pathogenic g.(68912520C>T), g.68912520C>T g.(68446837C>T), g.68446837C>T G40S, RPE65 c.118G>A, p.Gly40Ser, RPE65 c.[118G>A];[118G>A], V1: c.118G>A, (p.Gly40Ser) - RPE65_000049 expression cloning activity <0.02, heterozygous, homozygous, unknown variant 2ndchromosome, 1 more item PubMed: Chen 2021, PubMed: Ellingford 2016, PubMed: Galvin 2005, PubMed: Henderson 2007, 15 more items - rs61751281 Germline, In vitro (cloned), Unknown ?, yes 2/110 cases, 2/18 chromosomes BsrFI-;HpaII-, BsrFI-;HpaII-;MspI-, MspI- - - Muhammad Ajmal
+/., +?/. 2 3 c.119G>A r.(?) p.(Gly40Asp) ACMG likely pathogenic, pathogenic (recessive) g.68912519C>T g.68446836C>T RPE65 NM_000329: g.3124G>A, c.119G>A, p.G40D - RPE65_000156 - PubMed: Li 2017, PubMed: Xu 2020 - - Germline, Unknown ?, yes - - - - James Hejtmancik
+/. 1 - c.124C>T r.(?) p.(Leu42Phe) - pathogenic (recessive) g.68912514G>A g.68446831G>A L42F - RPE65_000271 - PubMed: Zhong 2019 - - Germline - - - - - LOVD
+/., +?/. 14 - c.130C>T r.(?) p.(Arg44*) ACMG likely pathogenic, likely pathogenic (recessive), pathogenic, pathogenic (recessive) g.68912508G>A g.68446825G>A R44X, RPE65 c.130C>T, p.(Arg44*), BBS1 c.1169T>G, p.(Met390Arg), 3 more items - RPE65_000229 single heterozygous variant (recessive), solved, compound heterozygous PubMed: Chung 2019, PubMed: Jespersgaar 2019, PubMed: Thompson 2017, PubMed: Weisschuh 2020, 2 more items - - Germline, Unknown ?, yes - - - - Johan den Dunnen
+/., +?/+?, +?/. 33 3, 9 c.(131G>A), c.131G>A -, r.(?) p.(Arg44Gln), p.Arg44Gln ACMG likely pathogenic, likely pathogenic (recessive), NA, pathogenic, pathogenic (recessive) g.(68912507C>T), g.68912507C>T g.(68446824C>T), g.68446824C>T c.131C>T, p.(Arg44Gln), R44Q, RPE65 c.131G>A, p.(Arg44Gln), 1 more item - RPE65_000036 error in annotation: c.131C>T instead of G>A, compound heterozygous, homozygous, 4 more items PubMed: Chung 2019, PubMed: Coppieters 2010, PubMed: Dan 2020, PubMed: Ellingford 2016, 17 more items - - Germline, In vitro (cloned), Unknown ?, yes 1/143 cases, 1/3 cases, 1/91 cases TaqI- - - Johan den Dunnen, Muhammad Ajmal
+?/., ?/? 2 3 c.133T>C r.(?) p.(Cys45Arg) - likely pathogenic, VUS g.68912505A>G g.68446822A>G - - RPE65_000112 - PubMed: Oishi 2014 - - Germline yes - BmgBI+ - - Muhammad Ajmal
+/., ?/. 3 - c.137G>A r.(?) p.(Gly46Glu) ACMG pathogenic (recessive), VUS g.68912501C>T g.68446818C>T RPE65 c.137G>A; p.GIy46GIu - RPE65_000270 heterozygous PubMed: Chung 2019, PubMed: Sallum 2020 - - Germline, Unknown ? - - - - LOVD
+/+, +/. 8 3 c.138del r.(?) p.(Pro47Glnfs*47) - pathogenic (recessive) g.68912502del g.68446819del 1 bp del 46, 1-bp del of (g) codon 46, 138delG, Gly46 del1, tgtG, Gly46 del1tgtG - RPE65_000047 unknown variant 2ndchromosome PubMed: Chung 2019, PubMed: Galvin 2005, PubMed: Lotery 2000, PubMed: Pasadhika 2010, 2 more items - - Germline yes 1/110 cases EaeI+;MscI+;Sau96I-, Sau96I- - - Muhammad Ajmal
+/+, +/. 2 3 c.144_145insT r.(?) p.(Leu49Serfs*3) - pathogenic (recessive) g.68912493_68912494insA g.68446810_68446811insA Ins144T - RPE65_000046 - PubMed: Chung 2019, PubMed: Lorenz 2000, PubMed: Lorenz 2004 - - Germline yes - HinfI-;MlyI-;PleI- - - Muhammad Ajmal
+/. 1 - c.149T>C r.(?) p.(Phe50Ser) - pathogenic (recessive) g.68912489A>G g.68446806A>G F50S - RPE65_000269 - PubMed: Zhong 2019 - - Germline - - - - - LOVD
+?/+?, +?/., ?/. 3 3 c.177C>G r.(?) p.(His59Gln) - likely pathogenic, likely pathogenic (recessive), VUS g.68912461G>C g.68446778G>C - - RPE65_000045 - PubMed: Katagiri 2014, PubMed: Maeda 2018 - - Germline yes 2/14 chromosomes AluI+;MspA1I+;PvuII+ - - Johan den Dunnen, Muhammad Ajmal
+/., +?/+?, ?/. 10 3 c.179T>C r.(?) p.(Leu60Pro) - likely pathogenic (recessive), pathogenic, pathogenic (recessive), VUS g.68906680C>A, g.68912459A>G g.68440997C>A, g.68446776A>G RPE65 c.179T>C, p.Leu60Pro, 1 more item - RPE65_000043, RPE65_000071 heterozygous, ACMG unclassified - no access to supplementary table 2, homozygous PubMed: Henderson 2007, PubMed: Hull 2020, PubMed: Kabir 2013, PubMed: Li 2017, PubMed: Scholl 2015 - - Germline, Unknown ?, yes 9/440 chromosomes BslI+;LpnPI- - - Muhammad Ajmal, James Hejtmancik
+/+ 1 3 c.183dup r.(?) p.(Asp62*) - pathogenic (recessive) g.68912457dup g.68446774dup 183_184insT - RPE65_000042 - PubMed: Katagiri 2014 - - Germline yes 3/14 chromosomes CspCI+;XcmI- - - Muhammad Ajmal
?/. 1 - c.184G>A r.(?) p.(Asp62Asn) ACMG VUS g.68912454C>T g.68446771C>T RPE65 c.184G>A p.Asp62Asn - RPE65_000324 heterozygous PubMed: Sallum 2020 - - Unknown ? - - - - LOVD
+?/. 2 3 c.188G>A r.(?) p.(Gly63Glu) ACMG likely pathogenic, likely pathogenic (recessive) g.68912450C>T g.68446767C>T c.188G>A, NM_000329.2:c.188G>A, NP_000320.1:p.(Gly63Glu), NC_000001.10:g.68912450C>T - RPE65_000294 - PubMed: Liu-2020, PubMed: Wang 2018 - - Germline ? - - - - LOVD
+/. 1 - c.190C>G r.(?) p.(Gln64Glu) - pathogenic (recessive) g.68912448G>C g.68446765G>C - - RPE65_000268 - PubMed: Li 2019 - - Germline - - - - - LOVD
+/+, +?/+? 2 3 c.190C>T r.(?) p.(Gln64*) - likely pathogenic (recessive), pathogenic (recessive) g.68912448G>A g.68446765G>A 244C>T - RPE65_000041 - PubMed: Hanein 2004, PubMed: Perrault 1999 - - Germline yes - Cac8I- - - Muhammad Ajmal
+/. 2 3 c.190del r.(?) p.(Gln64Lysfs*30) ACMG pathogenic, pathogenic (recessive) g.68912448del g.68446765del 190delC - RPE65_000191 ACMG PVS1, PM2, PM3, PP4 PubMed: Zenteno 2020 - - Germline - 1/143 cases - - - Johan den Dunnen, Juan Carlos Zenteno
+/., +?/+?, +?/., ?/. 18 3 c.200T>G r.(?) p.(Leu67Arg) ACMG likely pathogenic, likely pathogenic (recessive), pathogenic, pathogenic (recessive), VUS g.68912438A>C g.68446755A>C c.200T>G, c.[200T>G];[430T>C], L67R, RPE65 NM_000329: g.3205T>G, c.200T>G, p.L67R - RPE65_000039 unknown variant 2nd chromosome PubMed: Chen 2013, PubMed: Li 2029, PubMed: Li 2020, PubMed: Chen-2013, PubMed: Fu 2013, 9 more items - - Germline, Unknown ?, yes 0/384 controls, 1/100, 2/14 chromosomes HpaII+, HpaII+;MspI+;BsgI-;HpyCH4V- - - Muhammad Ajmal
+?/+? 1 3 c.201_202delinsTT r.(?) p.(His68Tyr) - likely pathogenic (recessive) g.68912436_68912437delinsAA g.68446753_68446754delinsAA 255 and 256 G to T and C to T - RPE65_000038 - PubMed: Marlhens 1998, PubMed: Hamel 2001 - - Germline yes 1/184 BsgI-;HpyCH4V- - - Muhammad Ajmal
+/. 1 - c.(202C>T) - p.His68Tyr - NA g.(68912436G>A) g.(68446753G>A) H68Y - RPE65_000225 expression cloning activity <0.02 PubMed: Redmond 2005 - - In vitro (cloned) - - - - - LOVD
+/. 1 - c.(202_203delinsGC) - p.His68Ala - NA g.(68912435_68912436delinsGC) g.(68446752_68446753delinsGC) H68A - RPE65_000224 expression cloning activity <0.02 PubMed: Redmond 2005 - - In vitro (cloned) - - - - - LOVD
?/. 1 - c.203A>C r.(?) p.(His68Pro) ACMG VUS g.68912435T>G g.68446752T>G allele 1: c.203A>C/p.H68P, allele 2: c.825C>G/p.Y275* - RPE65_000297 heterozygous PubMed: Weisschuh 2018 - - Germline ? - - - - LOVD
+/., +?/+?, +?/., ?/. 5 3 c.208T>G r.(?) p.(Phe70Val) - likely pathogenic (recessive), pathogenic (recessive), VUS g.68912430A>C g.68446747A>C - - RPE65_000002 predicted to affect function, but insufficient evidence for definite conclusion, 1 more item PubMed: Chung 2019, PubMed: Neveling 2012, PubMed: Pierrache 2020, PubMed: Simonelli 2007 - - CLASSIFICATION record, Germline yes - BslI+;EcoNI+;HincII+;Hpy166II+ - - Kornelia Neveling, Muhammad Ajmal, VKGL-NL_Nijmegen
+/. 1 - c.209T>C r.(?) p.(Phe70Ser) - pathogenic (recessive) g.68912429A>G g.68446746A>G - - RPE65_000267 - PubMed: Chung 2019 - - Germline - - - - - LOVD
+/+ 3 3 c.219dup r.(?) p.(Glu74Argfs*14) - pathogenic (recessive) g.68912421dup g.68446738dup 271insA - RPE65_000035 - PubMed: Lorenz 2004 - - Germline yes - - - - Muhammad Ajmal
?/. 2 - c.224G>A r.(?) p.(Gly75Glu) - VUS g.68912414C>T g.68446731C>T RPE65(NM_000329.2):c.224G>A (p.G75E) - RPE65_000165 VKGL data sharing initiative Nederland PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs201062742 CLASSIFICATION record, Germline - 17/1204 cases with retinitis pigmentosa - - - VKGL-NL_Rotterdam, Yoshito Koyanagi
+/., +?/. 3 3 c.227A>C r.(?) p.(His76Pro) ACMG likely pathogenic (recessive), pathogenic g.68912411T>G g.68446728T>G - - RPE65_000173 - Sharon, submitted, PubMed: Beryozkin 2015, PubMed: Sharon 2019 - - Germline - 3/2420 IRD families - - - Global Variome, with Curator vacancy, Johan den Dunnen, Dror Sharon
+/., +?/+?, +?/. 4 3 c.235T>C r.(?) p.(Tyr79His) - likely pathogenic, likely pathogenic (recessive), pathogenic (recessive) g.68912403A>G g.68446720A>G 289T->C, RPE65 p.Y79H (c.235T>C) - RPE65_000034 heterozygous PubMed: Chung 2019, PubMed: Preising 2007, PubMed: Thompson 2000 - - Germline yes - - - - Muhammad Ajmal
+?/. 9 - c.242G>T r.(242g>u), r.242g>u p.(Arg81Ile) - likely pathogenic, likely pathogenic (recessive) g.68912396C>A g.68446713C>A - - RPE65_000177 - - 000803387 - Germline yes - - - - Bailey Glen
+/. 1 3i c.246-11A>G r.245_246ins246-10_246-1 p.Arg82fs - pathogenic (recessive) g.68910577T>C - IVS3-11A>G - RPE65_000209 effect RNA analysed using IPS cells, RNA expression reduced PubMed: Tucker 2015 - - Germline - - - - - Johan den Dunnen
+/., +?/. 6 - c.247T>C r.(?) p.(Phe83Leu) ACMG likely pathogenic, pathogenic (recessive) g.68910565A>G g.68444882A>G RPE65 c.247T>C; p.Phe83Leu, SS c.247T>C; p.Phe83Leu - RPE65_000266 homozygous PubMed: Chung 2019, PubMed: Sallum 2020 - - Germline, Unknown ? - - - - LOVD
+?/+? 1 4 c.249C>G r.(?) p.(Phe83Leu) - likely pathogenic (recessive) g.68910563G>C g.68444880G>C - - RPE65_000033 - PubMed: Koenekoop 2014 - - Germline yes 2/14 chromosomes DpnI+;DpnII+;MboI+;BtsCI-;FokI- - - Muhammad Ajmal
+/. 1 - c.250A>T r.(?) p.(Ile84Phe) - pathogenic g.68910562T>A g.68444879T>A RPE65 c.250A>T, p.Ile84Phe - RPE65_000250 heterozygous PubMed: Scholl 2015 - - Unknown ? - - - - LOVD
+?/+?, ?/. 2 4 c.253C>T r.(?) p.(Arg85Cys) - likely pathogenic (recessive), VUS g.68910559G>A g.68444876G>A c.253C>T - RPE65_000154 unknown variant 2ndchromosome PubMed: Colombo-2020, PubMed: Stone 2007 - rs763317722 Germline - - BsgI+;HpyCH4V+;AciI-;BtsCI-;FokI- - - Muhammad Ajmal
+?/+? 1 4 c.254G>A r.(?) p.(Arg85His) - likely pathogenic (recessive) g.68910558C>T g.68444875C>T 308G->A - RPE65_000153 unknown variant 2ndchromosome PubMed: Thompson 2000 - - Germline - - MslI+ - - Muhammad Ajmal
?/. 1 - c.259G>A r.(?) p.(Asp87Asn) ACMG VUS g.68910553C>T g.68444870C>T RPE65 c.259G>A(;)1543C>T, V2: c.259G>A, (p.Asp87Asn) - RPE65_000328 alleles in cis or trans; heterozygous PubMed: Chen 2021 - - Unknown ? - - - - LOVD
+/., +?/+?, +?/., ?/. 104 4 c.(271C>T), c.271C>T -, r.(?), r.271c>u p.(Arg91Trp), p.Arg91Trp ACMG likely pathogenic, likely pathogenic (recessive), NA, pathogenic, pathogenic (recessive), unclassified g.(68910541G>A), g.68910541G>A g.(68444858G>A), g.68444858G>A 325C->T, 325C>T, c.271C>T, c.C271T p.R91W, R01W, RPE65 c.271C>T, p.R91W, 4 more items - RPE65_000003 6 heterozygous, no homozygous; Clinindb (India), heterozygous, heterozygous; no second allele found, 7 more items PubMed: Abu-Safieh-2013, PubMed: Bereta 2008, PubMed: Chebil 2016, PubMed: Chung 2019, PubMed: Li 2009, 33 more items - rs61752871 animal model, CLASSIFICATION record, Germline, In vitro (cloned), Unknown ?, yes 1/110 cases, 1/20 cases, 1/3 cases, 2/18 chromosomes, 3/117 cases, 4/46 chromosomes, 1 more item BsiWI-, BsiWI-;CviQI-;RsaI- - - Johan den Dunnen, Kornelia Neveling, Muhammad Ajmal, VKGL-NL_Nijmegen, Mohammed Faruq
+?/. 3 - c.271_272insA r.(?) p.(Arg91GlnfsTer5) - likely pathogenic g.68910540_68910541insT g.68444857_68444858insT RPE65 p.R91TfsX5 (c.271insA) - RPE65_000333 error in annotation: should be c.271_272insA and not c.271insA, homozygous, 2 more items PubMed: Preising 2007 - - Germline yes - - - - LOVD
+/., +?/+?, +?/., -/- 35 4 c.272G>A r.(?) p.(Arg91Gln), p.(Arg91Gly) ACMG benign, likely pathogenic, likely pathogenic (recessive), pathogenic, pathogenic (recessive) g.68910540C>T g.68444857C>T 326G->A, R91Q, RPE65 c.272G>A, p.Arg91Gln, RPE65 c.272G>A; p.Arg91GIn, 1 more item - RPE65_000081 heterozygous, homozygous, not in 400 controls, unknown variant 2ndchromosome 0, PubMed: Chung 2019, PubMed: Jacobson 2007, PubMed: Jacobson 2007, PubMed: Jacobson 2008, 12 more items - - Germline, Unknown ?, yes 2/14 chromosomes LpnPI +;BsiWI-, LpnPI+;BsiWI-, SunI+ - - Muhammad Ajmal
+?/+?, ?/. 2 4 c.272G>C r.(?) p.(Arg91Pro) ACMG likely pathogenic (recessive), VUS g.68910540C>G g.68444857C>G RPE65 c.272G>C; p.Arg91Pro - RPE65_000152 heterozygous PubMed: Sallum 2020, PubMed: Simonelli 2007 - - Germline, Unknown ?, yes - BsrFI+;HpaII+;LpnPI+;MspI+;BsiWI- - - Muhammad Ajmal
?/. 1 - c.275C>A r.(?) p.(Ala92Glu) - VUS g.68910537G>T g.68444854G>T RPE65(NM_000329.2):c.275C>A (p.A92E) - RPE65_000164 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+?/. 1 - c.283G>C r.(?) p.(Glu95Gln) - likely pathogenic g.68910529C>G g.68444846C>G RPE65 p.E95Q (c.283G>C) - RPE65_000332 heterozygous PubMed: Preising 2007 - - Germline yes - - - - LOVD
+?/. 1 - c.284A>G r.(?) p.(Glu95Gly) - likely pathogenic g.68910528T>C g.68444845T>C RPE65 c.284A>G, p.E95G - RPE65_000331 homozygous PubMed: Wiszniewski 2011 - - Unknown ? - - - - LOVD
+/+, +/., +?/+? 3 4 c.289dup r.(?) p.(Arg97Lysfs*34) - likely pathogenic (recessive), pathogenic (recessive) g.68910526dup g.68444843dup 289dupA, 289_290dupA - RPE65_000080 unknown variant 2ndchromosome PubMed: Chung 2019, PubMed: den Hollander 2007, PubMed: Stone 2007 - - Germline yes - - - - Muhammad Ajmal
+/+ 3 4 c.289_309del r.(?) p.(Arg97_Phe103del) - pathogenic (recessive) g.68910503_68910523del g.68444820_68444840del 20 bp del codon 97, 97del20bp - RPE65_000029 - PubMed: Jacobson 2005, PubMed: Jacobson 2007, PubMed: Lotery 2000 - - Germline yes - ApoI-;MluCI- - - Muhammad Ajmal
+/+, +/., +?/. 29 4 c.292_311del r.(?) p.(Ile98Hisfs*26), p.(Ile98HisfsTer26) ACMG likely pathogenic, likely pathogenic (recessive), pathogenic, pathogenic (recessive) g.68910503_68910522del g.68444820_68444839del 20 bp deletion in exon 4 nt 344 to 363, 344del20, 97del20bp, Arg97 del20, aGGATCGTCATAACAGAATTT, 1 more item - RPE65_000028 DNA change not mentioned, heterozygous, unknown variant 2ndchromosome PubMed: Jacobson 2007, PubMed: Jacobson 2008, PubMed: Jacobson 2012, PubMed: Poehner 2000, 5 more items 000803386 - Germline, Unknown ?, yes - ApoI-, ApoI-;MluCI- - - Muhammad Ajmal, Bailey Glen
+/., -/-, -/., ?/. 9 4 c.295G>A r.(?) p.(Val99Ile) - benign, pathogenic, pathogenic (recessive), VUS g.68910517C>T g.68444834C>T 295G>A, RPE65(NM_000329.2):c.295G>A (p.V99I) - RPE65_000079 reported as digenic with GUCY2D variant; unknown variant 2ndchromosome; not in 96 controls, 2 more items PubMed: Li 2011, PubMed: Li 2019, PubMed: Xu 2014 - rs143056561 CLASSIFICATION record, Germline - 1/314 case chromosomes, 4/87 cases, 4/87 cases; 0/96 controls - - - Muhammad Ajmal, VKGL-NL_Rotterdam
+/+ 1 4 c.297del r.(?) p.(Ile100*) - pathogenic (recessive) g.68910515del g.68444832del - - RPE65_000078 - PubMed: Jacobson 2005 - - Germline yes - - - - Muhammad Ajmal
+/+ 1 4 c.297_308del r.(?) p.(Ile100_Phe103del) - pathogenic (recessive) g.68910505_68910516del g.68444822_68444833del 297del1bp - RPE65_000030 - PubMed: Jacobson 2009 - - Germline - - ApoI-;MluCI- - - Muhammad Ajmal
+?/+? 2 4 c.302C>T r.(?) p.(Thr101Ile) - likely pathogenic (recessive) g.68910510G>A g.68444827G>A - - RPE65_000077 not in 400 controls, unknown variant 2ndchromosome PubMed: Philpa 2009, PubMed: Stone 2007 - - Germline yes - - - - Muhammad Ajmal
+/., +?/+? 3 4 c.304G>A r.(?) p.(Glu102Lys) - likely pathogenic (recessive), pathogenic (recessive) g.68910508C>T g.68444825C>T - - RPE65_000031 - PubMed: Chung 2019, PubMed: Morimura 1998, PubMed: Simonelli 2007 - - Germline yes - - - - Muhammad Ajmal
+/+, +/., +?/+?, +?/. 22 4 c.304G>T r.(?) p.(Glu102*), p.(Glu102Ter) ACMG likely pathogenic, likely pathogenic (recessive), pathogenic, pathogenic (recessive) g.68910508C>A g.68444825C>A 358G->T, c.304G>T (p.Glu102*), RPE65 c.304G>T, p.Glu102X, RPE65 p.E102X (c.304G>T) - RPE65_000032 homozygous, not in 200 controls, unknown variant 2ndchromosome Tracewska 2021, MolVis in press, PubMed: Chung 2019, PubMed: Dharmaraj 2000, PubMed: Ellingford 2016, 9 more items - - Germline, Unknown ?, yes 0,00041 (in-house database, ~5000 samples), 1/100 cases, 1/110 cases ApoI- - - Muhammad Ajmal
+/., +?/. 3 4 c.310G>A r.(?) p.(Gly104Ser) - likely pathogenic (recessive), pathogenic, pathogenic (recessive) g.68910502C>T g.68444819C>T c.310G>A - RPE65_000265 - PubMed: Chung 2019, PubMed: Ge 2015, PubMed: Liu-2020 - - Germline - - - - - LOVD
+/+?, +?/. 2 4 c.310G>C r.(?) p.(Gly104Arg) - likely pathogenic, pathogenic (recessive) g.68910502C>G g.68444819C>G - - RPE65_000005 - PubMed: Abu-Safieh-2013, PubMed: Patel 2016 - - Germline yes - BanI- - - Leen Abu Safieh
+?/+?, +?/. 2 4 c.311G>A r.(?) p.(Gly104Asp) - likely pathogenic, likely pathogenic (recessive) g.68910501C>T g.68444818C>T - - RPE65_000027 - PubMed: Huang 2015, PubMed: Jacobson 2009 - - Germline yes - BanI-;NlaIV- - - Muhammad Ajmal
+/. 1 - c.311G>T r.(?) p.(Gly104Val) - pathogenic (recessive) g.68910501C>A g.68444818C>A - - RPE65_000280 - PubMed: Villanueva 2018 - - Germline - - - - - LOVD
?/. 2 4 c.317G>A r.(?) p.(Cys106Tyr) - VUS g.68910495C>T g.68444812C>T G317A - RPE65_000188 - PubMed: Katagiri 2014, PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs142052358 Germline - 4/1204 cases with retinitis pigmentosa - - - Yoshito Koyanagi
+/., +?/., ?/. 9 - c.329A>G r.(?) p.(Asp110Gly) ACMG likely pathogenic (recessive), pathogenic (recessive), VUS g.68910483T>C g.68444800T>C RPE65 c.329A>G, p.(Asp110Gly), c.1102T>C, p.(Tyr368His) - RPE65_000264 - PubMed: Beryozkin 2015, PubMed: Chung 2019, PubMed: Jespersgaar 2019 - - Germline ? - - - - Johan den Dunnen
+?/+? 1 4 c.329A>T r.(?) p.(Asp110Val) - likely pathogenic (recessive) g.68910483T>A g.68444800T>A - - RPE65_000076 - PubMed: Henderson 2007 - - Germline yes - BmrI+;BsrI+;DpnI-;DpnII-;MboI-;Sau3AI- - - Muhammad Ajmal
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