Full data view for gene RPE65

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.

1478 entries on 15 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.(?_-1)_1128+1_1129-1)del r.spl p.(?) Both (homozygous) - 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) ? - - 0 - DNA ? - retrospective study retinal disease - PubMed: Khan 2019 - F - - - - 0 - - 1 LOVD
-/. - c.? r.(?) p.? Parent #1 - benign g.? - gi3077820:IVS12+20A>C - NPHS2_000000 - PubMed: Morimura 1998; PubMed: Booij 2005 - - Germline - - - 0 - DNA DHPLC, PCR, SEQ - - retinal disease - PubMed: Morimura 1998 - - - - - - 0 - - 1 Julia Lopez
-/. - c.? r.(?) p.? Parent #1 - benign g.? - gi3077820:1056G>A - NPHS2_000000 - PubMed: Morimura 1998; PubMed: Booij 2005 - - Germline - - - 0 - DNA DHPLC, PCR, SEQ - - retinal disease - PubMed: Morimura 1998 - - - - - - 0 - - 1 Julia Lopez
+/. - c.? r.? p.? Parent #1 - pathogenic (dominant) g.? - Asp477Gly - NPHS2_000000 - PubMed: Daiger 2014 - - Germline - - - 0 - DNA SEQ-NG - WES retinal disease UTAD569 PubMed: Daiger 2014 4-generation family, 18 affected - - United States - - 0 - - 18 LOVD
+?/. - c.-330_1128+252del r.spl p.(?) Both (homozygous) - 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 ? - - 0 - DNA SEQ-NG-I, PCRq blood - retinal disease OGI2860_004445 PubMed: Zampaglione-2020 - ? - - - - 0 - - 1 LOVD
?/? 1 c.-4G>A r.(?) p.(?) Unknown - VUS g.68915592C>T g.68449909C>T IVS1(-4) G>A - RPE65_000137 unknown variant 2ndchromosome PubMed: Dharmaraj 2000 - - Germline yes 1/100 cases - 0 - DNA PCR, SSCA - - LCA - PubMed: Dharmaraj 2000 - ? no United States American - 0 - - 1 Muhammad Ajmal
+/. - c.(879_887)? r.(?) p.(Lys294ins?) Parent #1 - pathogenic (recessive) g.(68904736_68904744)? g.(68439053_68439061)? Lys294ins? - RPE65_000000 - PubMed: Chung 2019 - - Germline - - - 0 - DNA SEQ - - retinal disease - PubMed: Chung 2019 study natural history disease; individual possibly reported before - - - - - 0 - - 1 LOVD
+?/. _1_14_ c.-54_*952{0} r.? p.? Paternal (confirmed) - likely pathogenic (recessive) g.(?_68895454)_(68915593_?)del - c.(?_-1)_(*1_?)del - RPE65_000320 - PubMed: Ellingsford 2018 - - Germline - - - 0 - DNA SEQ-NG - CNV gene panel next-generation sequencing retinal disease 84929 PubMed: Ellingsford 2018 - - - United Kingdom (Great Britain) - - 0 - - 1 LOVD
+/. - c.11+2T>V r.spl p.? Parent #1 - pathogenic (recessive) g.68915576A>B g.68449893A>B c.11+2T>? - RPE65_000000 - PubMed: Chung 2019 - - Germline - - - 0 - DNA SEQ - - retinal disease - PubMed: Chung 2019 study natural history disease; individual possibly reported before - - - - - 0 - - 1 LOVD
?/? 1 c.2T>C r.(?) p.(Met1?) Unknown - VUS g.68915587A>G g.68449904A>G 56T->c, M1T - RPE65_000136 - PubMed: Thompson 2000 - - Germline yes - HpyCH4IV+ 0 - DNA PCR, SEQ, SSCA - - retinal degeneration - PubMed: Thompson 2000 - ? no ? (unknown) ? - 0 - - 1 Muhammad Ajmal
?/? 1 c.2T>C r.(?) p.(Met1?) Both (homozygous) - VUS g.68915587A>G g.68449904A>G - - RPE65_000136 - PubMed: Morimura 1998 - - Germline yes - HpyCH4IV+ 0 - DNA PCR, SEQ, SSCA - - LCA - PubMed: Morimura 1998 - M no ? (unknown) ? - 0 - - 1 Muhammad Ajmal
?/? 1 c.2T>C r.(?) p.(Met1?) Both (homozygous) - VUS g.68915587A>G g.68449904A>G - - RPE65_000136 - PubMed: Morimura 1998 - - Germline yes - HpyCH4IV+ 0 - DNA PCR, SEQ, SSCA - - LCA - PubMed: Morimura 1998 - M no ? (unknown) ? - 0 - - 1 Muhammad Ajmal
+?/. - c.10del r.(?) p.(Gln4Argfs*27) Parent #1 - likely pathogenic g.68915579del g.68449896del c.10delC - RPE65_000205 - PubMed: Holtan 2020 - - Germline - 1/899 cases - 0 - DNA SEQ - - retinal disease - PubMed: Holtan 2020 1 patient with variant in heterozygous or compound heterozygous form - - Norway - - 0 - - 1 Global Variome, with Curator vacancy
+/+ 1i c.11+1G>T r.spl p.? Both (homozygous) - pathogenic (recessive) g.68915577C>A g.68449894C>A - - RPE65_000135 - PubMed: Jacobson 2012 - - Germline yes - - 0 - DNA ? - - LCA - PubMed: Jacobson 2012 - F ? ? (unknown) ? - 0 - - 1 Muhammad Ajmal
+?/. - c.11+2T>G r.spl p.? Both (homozygous) - likely pathogenic (recessive) g.68915576A>C g.68449893A>C - - RPE65_000204 - PubMed: Holtan 2020 - - Germline - 2/899 cases - 0 - DNA SEQ - - retinal disease - PubMed: Holtan 2020 2 homozygous patients - - Norway - - 0 - - 2 Global Variome, with Curator vacancy
+?/+? 1i c.11+5G>A r.spl p.? Unknown - likely pathogenic (recessive) g.68915573C>T g.68449890C>T - - RPE65_000058 - PubMed: Ripamonti 2014 - - Germline yes 2/18 chromosomes - 0 - DNA ? - - LCA - PubMed: Ripamonti 2014 - F ? ? (unknown) ? - 0 - - 1 Muhammad Ajmal
+?/+? 1i c.11+5G>A r.spl p.? Unknown - likely pathogenic (recessive) g.68915573C>T g.68449890C>T - - RPE65_000058 - PubMed: Ripamonti 2014 - - Germline yes 2/18 chromosomes - 0 - DNA ? - - LCA - PubMed: Ripamonti 2014 - M ? ? (unknown) ? - 0 - - 1 Muhammad Ajmal
+?/+? 1i c.11+5G>A r.spl p.? Unknown - likely pathogenic (recessive) g.68915573C>T g.68449890C>T - - RPE65_000058 - PubMed: Jacobson 2012 - - Germline yes - - 0 - DNA ? - - LCA - PubMed: Jacobson 2012 - F ? ? (unknown) ? - 0 - - 1 Muhammad Ajmal
+?/+? 1i c.11+5G>A r.spl p.? Paternal (confirmed) - likely pathogenic (recessive) g.68915573C>T g.68449890C>T - - RPE65_000058 - PubMed: Schatz 2011 - - Germline yes 2/8 chromosomes ? 0 - DNA PCR, SEQ - - ? - PubMed: Schatz 2011 - F no ? (unknown) ? - 0 - - 1 Muhammad Ajmal
?/? 1i c.11+5G>A r.spl p.? Unknown - VUS g.68915573C>T g.68449890C>T - - RPE65_000058 - PubMed: Coppieters 2010 - - Germline yes 2/91 cases - 0 - DNA arraySEQ, PCR, SEQ - - LCA - PubMed: Coppieters 2010 - M no Belgium Belgian - 0 - - 1 Muhammad Ajmal
?/? 1i c.11+5G>A r.spl p.? Unknown - VUS g.68915573C>T g.68449890C>T - - RPE65_000058 - PubMed: Coppieters 2010 - - Germline yes 2/91 cases - 0 - DNA arraySEQ, PCR, SEQ - - LCA - PubMed: Coppieters 2010 - F no Belgium Belgian - 0 - - 1 Muhammad Ajmal
?/? 1i c.11+5G>A r.spl p.? Both (homozygous) - VUS g.68915573C>T g.68449890C>T - - RPE65_000058 - PubMed: Pasadhika 2010 - - Germline yes - - 0 - DNA SSCA, PCR, SEQ - - LCA - - - ? ? ? (unknown) ? - 0 - - 1 Muhammad Ajmal
?/? 1i c.11+5G>A r.spl p.? Both (homozygous) - VUS g.68915573C>T g.68449890C>T - - RPE65_000058 - PubMed: Pasadhika 2010 - - Germline yes - - 0 - DNA SSCA, PCR, SEQ - - LCA - - - ? ? ? (unknown) ? - 0 - - 1 Muhammad Ajmal
+?/+? 1i c.11+5G>A r.spl p.? Both (homozygous) - likely pathogenic (recessive) g.68915573C>T g.68449890C>T - - RPE65_000058 - PubMed: Galvin 2005 - - Germline yes 2/110 cases - 0 - DNA SSCA, PCR, SEQ - - LCA - PubMed: Galvin 2005 - ? ? ? (unknown) ? - 0 - - 1 Muhammad Ajmal
+?/+? 1i c.11+5G>A r.spl p.? Both (homozygous) - likely pathogenic (recessive) g.68915573C>T g.68449890C>T - - RPE65_000058 - PubMed: Galvin 2005 - - Germline yes 2/110 cases - 0 - DNA SSCA, PCR, SEQ - - LCA - PubMed: Galvin 2005 - ? ? ? (unknown) ? - 0 - - 1 Muhammad Ajmal
+/+ 1i c.11+5G>A r.spl p.? Paternal (confirmed) - pathogenic (recessive) g.68915573C>T g.68449890C>T - - RPE65_000058 no second chromosome; uniparental isodisomy PubMed: Thompson 2002 - - Uniparental disomy, paternal allele - - - 0 - DNA PCR - - RD - PubMed: Thompson 2002 - M ? ? (unknown) ? - 0 - - 1 Muhammad Ajmal
+/+ 1i c.11+5G>A r.spl p.? Paternal (confirmed) - pathogenic (recessive) g.68915573C>T g.68449890C>T - - RPE65_000058 - PubMed: Thompson 2002 - - Germline - - - 0 - DNA PCR - - RD - PubMed: Thompson 2002 - M ? ? (unknown) ? - 0 - - 1 Muhammad Ajmal
?/? 1i c.11+5G>A r.spl p.? Unknown - VUS g.68915573C>T g.68449890C>T - - RPE65_000058 - PubMed: Weleber 2011 - - Germline yes - - 0 - DNA PCR, SEQ - - RD - PubMed: Weleber 2011 - F ? ? (unknown) ? - 0 - - 1 Muhammad Ajmal
+?/+? 1i c.11+5G>A r.spl p.? Unknown - likely pathogenic (recessive) g.68915573C>T g.68449890C>T - - RPE65_000058 - PubMed: Jacobson 2009 - - Germline - - - 0 - DNA PCR, SEQ - - LCA - PubMed: Jacobson 2009 - F no ? (unknown) white - 0 - - 1 Muhammad Ajmal
+?/+? 1i c.11+5G>A r.spl p.? Both (homozygous) - likely pathogenic (recessive) g.68915573C>T g.68449890C>T - - RPE65_000058 - PubMed: Jacobson 2009 - - Germline - - - 0 - DNA PCR, SEQ - - LCA - PubMed: Jacobson 2009 - M no ? (unknown) white - 0 - - 1 Muhammad Ajmal
?/? 1i c.11+5G>A r.spl p.? Unknown - VUS g.68915573C>T g.68449890C>T - - RPE65_000058 - PubMed: Booij 2005 - - Germline yes - ? 0 - DNA PCR, SEQ - - LCA - PubMed: Booij 2005 - ? ? ? (unknown) ? - 0 - - 1 Muhammad Ajmal
+?/+? 1i c.11+5G>A r.spl p.? Both (homozygous) - likely pathogenic (recessive) g.68915573C>T g.68449890C>T - - RPE65_000058 - PubMed: Jacobson 2005 - - Germline yes - - 0 - DNA ? - - LCA - PubMed: Jacobson 2005 - M ? ? (unknown) ? - 0 - - 1 Muhammad Ajmal
?/? 1i c.11+5G>A r.spl p.? Both (homozygous) - VUS g.68915573C>T g.68449890C>T - - RPE65_000058 - PubMed: Hanein 2004 - - Germline yes - - 0 - DNA PCR, DHPLC, SEQ - - LCA - PubMed: Hanein 2004 - ? yes ? (unknown) ? - 0 - - 1 Muhammad Ajmal
?/? 1i c.11+5G>A r.spl p.? Unknown - VUS g.68915573C>T g.68449890C>T - - RPE65_000058 - PubMed: Yzer 2003 - - Germline yes - - 0 - DNA PCR, SEQ - - RD - PubMed: Yzer 2003 2-generation family, 1 affected F yes Netherlands Dutch, NW - 0 - - 1 Muhammad Ajmal
?/? 1i c.11+5G>A r.spl p.? Paternal (confirmed) - VUS g.68915573C>T g.68449890C>T - - RPE65_000058 - PubMed: Felius 2002 - - Germline yes - - 0 - DNA SEQ - - LCA - PubMed: Felius 2002 3-generation family, 2 affected M no ? (unknown) ? - 0 - - 2 Muhammad Ajmal
?/? 1i c.11+5G>A r.spl p.? Paternal (confirmed) - VUS g.68915573C>T g.68449890C>T - - RPE65_000058 - PubMed: Felius 2002 - - Germline yes - - 0 - DNA SEQ - - LCA - PubMed: Felius 2002 3-generation family, 2 affected M no ? (unknown) ? - 0 - - 1 Muhammad Ajmal
?/? 1i c.11+5G>A r.spl p.? Both (homozygous) - VUS g.68915573C>T g.68449890C>T - - RPE65_000058 - PubMed: Simovich 2001 - - Germline yes - - 0 - DNA PCR, SEQ, Southern - - LCA - PubMed: Simovich 2001 - ? ? ? (unknown) ? - 0 - - 1 Muhammad Ajmal
?/? 1i c.11+5G>A r.spl p.? Unknown - VUS g.68915573C>T g.68449890C>T IVS1+5G>A - RPE65_000058 - PubMed: Thompson 2000 - - Germline yes - - 0 - DNA PCR, SEQ, SSCA - - retinal degeneration - PubMed: Thompson 2000 - ? no ? (unknown) ? - 0 - - 1 Muhammad Ajmal
?/? 1i c.11+5G>A r.spl p.? Unknown - VUS g.68915573C>T g.68449890C>T IVS1+5G>A - RPE65_000058 - PubMed: Thompson 2000 - - Germline yes - - 0 - DNA PCR, SEQ, SSCA - - retinal degeneration - PubMed: Thompson 2000 - ? no ? (unknown) ? - 0 - - 1 Muhammad Ajmal
?/? 1i c.11+5G>A r.spl p.? Unknown - VUS g.68915573C>T g.68449890C>T IVS1+5G>A - RPE65_000058 - PubMed: Thompson 2000 - - Germline yes - - 0 - DNA PCR, SEQ, SSCA - - retinal degeneration - PubMed: Thompson 2000 - ? no ? (unknown) ? - 0 - - 1 Muhammad Ajmal
?/? 1i c.11+5G>A r.spl p.? Unknown - VUS g.68915573C>T g.68449890C>T IVS1+5G>A - RPE65_000058 - PubMed: Thompson 2000 - - Germline yes - - 0 - DNA PCR, SEQ, SSCA - - retinal degeneration - PubMed: Thompson 2000 - ? no ? (unknown) ? - 0 - - 1 Muhammad Ajmal
?/? 1i c.11+5G>A r.spl p.? Unknown - VUS g.68915573C>T g.68449890C>T IVS1+5G>A - RPE65_000058 - PubMed: Thompson 2000 - - Germline yes - - 0 - DNA PCR, SEQ, SSCA - - retinal degeneration - PubMed: Thompson 2000 - ? no ? (unknown) ? - 0 - - 1 Muhammad Ajmal
?/? 1i c.11+5G>A r.spl p.? Unknown - VUS g.68915573C>T g.68449890C>T IVS1+5G>A - RPE65_000058 - PubMed: Thompson 2000 - - Germline yes - - 0 - DNA PCR, SEQ, SSCA - - retinal degeneration - PubMed: Thompson 2000 - ? no ? (unknown) ? - 0 - - 1 Muhammad Ajmal
?/? 1i c.11+5G>A r.spl p.? Paternal (confirmed) - VUS g.68915573C>T g.68449890C>T IVS1+5G->A - RPE65_000058 - PubMed: Lorenz 2000, PubMed: Lorenz 2004 - - Germline yes - - 0 - DNA SSCA, SEQ - - CORD FamHPatHJ PubMed: Lorenz 2000, PubMed: Lorenz 2004, PubMed: Paunescu 2004 3-generation family, 1 affected, unaffected heterozygous carrier parents F no Germany Netherlands - 0 - - 1 Muhammad Ajmal
?/? 1i c.11+5G>A r.spl p.? Maternal (confirmed) - VUS g.68915573C>T g.68449890C>T IVS1+5G>A - RPE65_000058 - PubMed: Lorenz 2000, PubMed: Lorenz 2004 - - Germline yes - - 0 - DNA SSCA, SEQ - - CORD FamBPatBR PubMed: Lorenz 2000, PubMed: Lorenz 2004, PubMed: Paunescu 2004 3-generation family, 1 affected, unaffected heterozygous carrier parents M no Germany Netherlands - 0 - - 1 Muhammad Ajmal
?/? 1i c.11+5G>A r.spl p.? Both (homozygous) - VUS g.68915573C>T g.68449890C>T - - RPE65_000058 - PubMed: Lotery 2000 - - Germline yes - - 0 - DNA PCR, SEQ, SSCA - - LCA - PubMed: Lotery 2000 - ? ? ? (unknown) ? - 0 - - 1 Muhammad Ajmal
?/? 1i c.11+5G>A r.spl p.? Unknown - VUS g.68915573C>T g.68449890C>T - - RPE65_000058 unknown variant 2ndchromosome PubMed: Lotery 2000 - - Germline - - - 0 - DNA PCR, SEQ, SSCA - - LCA - PubMed: Lotery 2000 - ? ? ? (unknown) ? - 0 - - 1 Muhammad Ajmal
?/? 1i c.11+5G>A r.spl p.? Unknown - VUS g.68915573C>T g.68449890C>T 65 + 5g>a - RPE65_000058 - PubMed: Lotery 2000 - - Unknown yes - - 0 - DNA PCR, SEQ, SSCA - - LCA - PubMed: Lotery 2000 - ? ? ? (unknown) ? - 0 - - 1 Muhammad Ajmal
+?/. 1i c.11+5G>A r.spl p.? Both (homozygous) - VUS g.68915573C>T g.68449890C>T 65+5G>A - RPE65_000058 - PubMed: Perrault 1999 - - Germline yes - - 0 - DNA PCR, SEQ, SSCA - - LCA Fam2PatII1 PubMed: Perrault 1999 2-generation family, 2 affected sisters, unaffected heterozygous carrier parents F yes (France) ? - 0 - - 2 Muhammad Ajmal
+?/. 1i c.11+5G>A r.spl p.? Both (homozygous) - VUS g.68915573C>T g.68449890C>T 65+5G>A - RPE65_000058 - PubMed: Perrault 1999 - - Germline yes - - 0 - DNA PCR, SEQ, SSCA - - LCA Fam2PatII2 PubMed: Perrault 1999 sister F yes (France) ? - 0 - - 1 Muhammad Ajmal
?/? 1i c.11+5G>A r.spl p.? Both (homozygous) - VUS g.68915573C>T g.68449890C>T 65+5G->A - RPE65_000058 - PubMed: Gu 1997 - - Germline yes - - 0 - DNA PCR, SEQ - - RD - PubMed: Gu 1997 - F no ? (unknown) ? - 0 - - 1 Muhammad Ajmal
?/? 1i c.11+5G>A r.spl p.? Paternal (confirmed) - VUS g.68915573C>T g.68449890C>T 65+5G->A - RPE65_000058 - PubMed: Gu 1997 - - Germline yes - - 0 - DNA PCR, SEQ - - RD - PubMed: Gu 1997 - F no ? (unknown) ? - 0 - - 1 Muhammad Ajmal
+?/+? 1i c.11+5G>A r.spl p.? Unknown - likely pathogenic (recessive) g.68915573C>T g.68449890C>T 12+4G>A, SPLICE - RPE65_000058 - PubMed: Henderson 2007 - - Germline yes - - 0 - DNA arraySEQ, PCR, SEQ - - LCA - PubMed: Henderson 2007 - ? ? ? (unknown) ? - 0 - - 1 Muhammad Ajmal
?/? 1i c.11+5G>A r.spl p.? Unknown - VUS g.68915573C>T g.68449890C>T 12+4G>A, SPLICE - RPE65_000058 - PubMed: Henderson 2007 - - Germline yes - - 0 - DNA arraySEQ, PCR, SEQ - - LCA - PubMed: Henderson 2007 - ? ? ? (unknown) ? - 0 - - 1 Muhammad Ajmal
?/? 1i c.11+5G>A r.spl p.? Unknown - VUS g.68915573C>T g.68449890C>T - - RPE65_000058 unknown variant 2ndchromosome PubMed: Stone 2007 - - Germline - - - 0 - DNA SSCA, SEQ - - LCA - PubMed: Stone 2007 - ? ? ? (unknown) ? - 0 - - 1 Muhammad Ajmal
?/? 1i c.11+5G>A r.spl p.? Unknown - VUS g.68915573C>T g.68449890C>T - - RPE65_000058 unknown variant 2ndchromosome PubMed: Stone 2007 - - Germline - - - 0 - DNA SSCA, SEQ - - LCA - PubMed: Stone 2007 - ? ? ? (unknown) ? - 0 - - 1 Muhammad Ajmal
?/? 1i c.11+5G>A r.spl p.? Unknown - VUS g.68915573C>T g.68449890C>T - - RPE65_000058 unknown variant 2ndchromosome PubMed: Stone 2007 - - Germline - - - 0 - DNA SSCA, SEQ - - LCA - PubMed: Stone 2007 - ? ? ? (unknown) ? - 0 - - 1 Muhammad Ajmal
?/? 1i c.11+5G>A r.spl p.? Unknown - VUS g.68915573C>T g.68449890C>T - - RPE65_000058 unknown variant 2ndchromosome PubMed: Stone 2007 - - Germline - - - 0 - DNA SSCA, SEQ - - LCA - PubMed: Stone 2007 - ? ? ? (unknown) ? - 0 - - 1 Muhammad Ajmal
?/? 1i c.11+5G>A r.spl p.? Unknown - VUS g.68915573C>T g.68449890C>T - - RPE65_000058 unknown variant 2ndchromosome PubMed: Stone 2007 - - Germline - - - 0 - DNA SSCA, SEQ - - LCA - PubMed: Stone 2007 - ? ? ? (unknown) ? - 0 - - 1 Muhammad Ajmal
?/? 1i c.11+5G>A r.spl p.? Unknown - VUS g.68915573C>T g.68449890C>T - - RPE65_000058 unknown variant 2ndchromosome PubMed: Stone 2007 - - Germline - - - 0 - DNA SSCA, SEQ - - LCA - PubMed: Stone 2007 - ? ? ? (unknown) ? - 0 - - 1 Muhammad Ajmal
?/? 1i c.11+5G>A r.spl p.? Unknown - VUS g.68915573C>T g.68449890C>T - - RPE65_000058 unknown variant 2ndchromosome PubMed: Stone 2007 - - Germline - - - 0 - DNA SSCA, SEQ - - LCA - PubMed: Stone 2007 - ? ? ? (unknown) ? - 0 - - 1 Muhammad Ajmal
?/? 1i c.11+5G>A r.spl p.? Unknown - VUS g.68915573C>T g.68449890C>T - - RPE65_000058 unknown variant 2ndchromosome PubMed: Stone 2007 - - Germline - - - 0 - DNA SSCA, SEQ - - LCA - PubMed: Stone 2007 - ? ? ? (unknown) ? - 0 - - 1 Muhammad Ajmal
?/? 1i c.11+5G>A r.spl p.? Unknown - VUS g.68915573C>T g.68449890C>T - - RPE65_000058 unknown variant 2ndchromosome PubMed: Stone 2007 - - Germline - - - 0 - DNA SSCA, SEQ - - LCA - PubMed: Stone 2007 - ? ? ? (unknown) ? - 0 - - 1 Muhammad Ajmal
?/? 1i c.11+5G>A r.spl p.? Unknown - VUS g.68915573C>T g.68449890C>T - - RPE65_000058 unknown variant 2ndchromosome PubMed: Stone 2007 - - Germline - - - 0 - DNA SSCA, SEQ - - LCA - PubMed: Stone 2007 - ? ? ? (unknown) ? - 0 - - 1 Muhammad Ajmal
?/? 1i c.11+5G>A r.spl p.? Unknown - VUS g.68915573C>T g.68449890C>T - - RPE65_000058 unknown variant 2ndchromosome PubMed: Stone 2007 - - Germline - - - 0 - DNA SSCA, SEQ - - LCA - PubMed: Stone 2007 - ? ? ? (unknown) ? - 0 - - 1 Muhammad Ajmal
+/+ 1i c.11+5G>A r.spl p.? Unknown - pathogenic (recessive) g.68915573C>T g.68449890C>T - - RPE65_000058 - PubMed: Jacobson 2007 - - Germline - - - 0 - DNA ? - - LCA - PubMed: Jacobson 2007 - ? ? United States American - 0 - - 1 Muhammad Ajmal
+?/. - c.11+5G>A r.spl? p.? Unknown - likely pathogenic g.68915573C>T g.68449890C>T - - RPE65_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.11+5G>A r.spl p.? Parent #2 - pathogenic g.68915573C>T g.68449890C>T - - RPE65_000058 - PubMed: Zenteno 2020 - - Germline - 1/143 cases - 0 - DNA SEQ, SEQ-NG - 199 gene panel retinal disease 2934 PubMed: Zenteno 2020 - - - Mexico - - 0 - - 1 Johan den Dunnen
+/. - c.11+5G>A r.spl? p.? Unknown - pathogenic (recessive) g.68915573C>T - 1:68915573C>T ENST00000262340.5:c.11+5G>A - RPE65_000058 - PubMed: Carss 2017 - - Germline - - - 0 - DNA SEQ-NG - WGS retinal disease W000255 PubMed: Carss 2017 - F - United Kingdom (Great Britain) Europe - 0 - - 1 LOVD
+/. - c.11+5G>A r.spl p.? Parent #1 - pathogenic (recessive) g.68915573C>T g.68449890C>T - - RPE65_000058 - PubMed: Hull 2016 - - Germline - - - 0 - DNA SEQ - - retinal disease GC130-Pat3 PubMed: Hull 2016 - M - United States - - 0 - - 1 LOVD
+/. - c.11+5G>A r.spl p.? Parent #1 - pathogenic (recessive) g.68915573C>T g.68449890C>T - - RPE65_000058 - PubMed: Chung 2019 - - Germline - - - 0 - DNA SEQ - - retinal disease - PubMed: Chung 2019 study natural history disease; individual possibly reported before - - - - - 0 - - 1 LOVD
+/. - c.11+5G>A r.spl p.? Parent #1 - pathogenic (recessive) g.68915573C>T g.68449890C>T 1590delC - RPE65_000058 - PubMed: Chung 2019 - - Germline - - - 0 - DNA SEQ - - retinal disease - PubMed: Chung 2019 study natural history disease; individual possibly reported before - - - - - 0 - - 1 LOVD
+/. - c.11+5G>A r.spl p.? Parent #1 - pathogenic (recessive) g.68915573C>T g.68449890C>T - - RPE65_000058 - PubMed: Chung 2019 - - Germline - - - 0 - DNA SEQ - - retinal disease - PubMed: Chung 2019 study natural history disease; individual possibly reported before - - - - - 0 - - 1 LOVD
+/. - c.11+5G>A r.spl p.? Parent #1 - pathogenic (recessive) g.68915573C>T g.68449890C>T - - RPE65_000058 - PubMed: Chung 2019 - - Germline - - - 0 - DNA SEQ - - retinal disease - PubMed: Chung 2019 study natural history disease; individual possibly reported before - - - - - 0 - - 1 LOVD
+/. - c.11+5G>A r.spl p.? Parent #1 - pathogenic (recessive) g.68915573C>T g.68449890C>T - - RPE65_000058 - PubMed: Chung 2019 - - Germline - - - 0 - DNA SEQ - - retinal disease - PubMed: Chung 2019 study natural history disease; individual possibly reported before - - - - - 0 - - 1 LOVD
+/. - c.11+5G>A r.spl p.? Parent #1 - pathogenic (recessive) g.68915573C>T g.68449890C>T - - RPE65_000058 - PubMed: Chung 2019 - - Germline - - - 0 - DNA SEQ - - retinal disease - PubMed: Chung 2019 study natural history disease; individual possibly reported before - - - - - 0 - - 1 LOVD
+/. - c.11+5G>A r.spl p.? Parent #1 - pathogenic (recessive) g.68915573C>T g.68449890C>T - - RPE65_000058 - PubMed: Chung 2019 - - Germline - - - 0 - DNA SEQ - - retinal disease - PubMed: Chung 2019 study natural history disease; individual possibly reported before - - - - - 0 - - 1 LOVD
+/. - c.11+5G>A r.spl p.? Parent #1 - pathogenic (recessive) g.68915573C>T g.68449890C>T - - RPE65_000058 - PubMed: Chung 2019 - - Germline - - - 0 - DNA SEQ - - retinal disease - PubMed: Chung 2019 study natural history disease; individual possibly reported before - - - - - 0 - - 1 LOVD
+/. - c.11+5G>A r.spl p.? Parent #1 - pathogenic (recessive) g.68915573C>T g.68449890C>T - - RPE65_000058 - PubMed: Chung 2019 - - Germline - - - 0 - DNA SEQ - - retinal disease - PubMed: Chung 2019 study natural history disease; individual possibly reported before - - - - - 0 - - 1 LOVD
+/. - c.11+5G>A r.spl p.? Parent #1 - pathogenic (recessive) g.68915573C>T g.68449890C>T - - RPE65_000058 - PubMed: Chung 2019 - - Germline - - - 0 - DNA SEQ - - retinal disease - PubMed: Chung 2019 study natural history disease; individual possibly reported before - - - - - 0 - - 1 LOVD
+/. - c.11+5G>A r.spl p.? Both (homozygous) - pathogenic (recessive) g.68915573C>T g.68449890C>T - - RPE65_000058 - PubMed: Pierrache 2020 - - Germline - - - 0 - DNA SEQ - - retinal disease PatL1 PubMed: Pierrache 2020 study natural history disease; individual possibly reported before F - - - - 0 - - 1 LOVD
+/. - c.11+5G>A r.spl p.? Parent #1 - pathogenic (recessive) g.68915573C>T g.68449890C>T - - RPE65_000058 - PubMed: Pierrache 2020 - - Germline - - - 0 - DNA SEQ - - retinal disease PatAA1 PubMed: Pierrache 2020 study natural history disease; individual possibly reported before M - - - - 0 - - 1 LOVD
+/. - c.11+5G>A r.spl p.? Both (homozygous) - pathogenic (recessive) g.68915573C>T g.68449890C>T - - RPE65_000058 - PubMed: Pierrache 2020 - - Germline - - - 0 - DNA SEQ - - retinal disease PatAB1 PubMed: Pierrache 2020 study natural history disease; individual possibly reported before M - - - - 0 - - 1 LOVD
+/. - c.11+5G>A r.spl p.? Both (homozygous) - pathogenic (recessive) g.68915573C>T g.68449890C>T - - RPE65_000058 - PubMed: Pierrache 2020 - - Germline - - - 0 - DNA SEQ - - retinal disease PatAB2 PubMed: Pierrache 2020 study natural history disease; individual possibly reported before M - - - - 0 - - 1 LOVD
+/. - c.11+5G>A r.spl p.? Parent #2 - pathogenic (recessive) g.68915573C>T g.68449890C>T - - RPE65_000058 - PubMed: Pierrache 2020 - - Germline - - - 0 - DNA SEQ - - retinal disease PatJ1 PubMed: Pierrache 2020 study natural history disease; individual possibly reported before M - - - - 0 - - 1 LOVD
+/. - c.11+5G>A r.spl p.? Parent #2 - pathogenic (recessive) g.68915573C>T g.68449890C>T - - RPE65_000058 - PubMed: Pierrache 2020 - - Germline - - - 0 - DNA SEQ - - retinal disease PatR1 PubMed: Pierrache 2020 study natural history disease; individual possibly reported before M - - - - 0 - - 1 LOVD
+/. - c.11+5G>A r.spl p.? Parent #2 - pathogenic (recessive) g.68915573C>T g.68449890C>T - - RPE65_000058 - PubMed: Pierrache 2020 - - Germline - - - 0 - DNA SEQ - - retinal disease PatW1 PubMed: Pierrache 2020 study natural history disease; individual possibly reported in Yzer 2003 F - Netherlands - - 0 - - 1 LOVD
+?/. - c.11+5G>A r.spl p.? Parent #1 - likely pathogenic g.68915573C>T g.68449890C>T IVS1+5G>A - RPE65_000058 - PubMed: Stone 2017 - - Germline - - - 0 - DNA SEQ-NG - - retinal disease 424 PubMed: Stone 2017 1 affected F - (United States) - - 0 - - 1 LOVD
+?/. - c.11+5G>A r.spl p.? Parent #1 - likely pathogenic g.68915573C>T g.68449890C>T IVS1+5G>A - RPE65_000058 - PubMed: Stone 2017 - - Germline - - - 0 - DNA SEQ-NG - - retinal disease 445 PubMed: Stone 2017 1 affected F - (United States) - - 0 - - 1 LOVD
+/. - c.11+5G>A r.spl? p.? Parent #1 - pathogenic g.68915573C>T g.68449890C>T - - RPE65_000058 - PubMed: Haer-Wigman 2017 - - Germline yes - - 0 - DNA SEQ-NG - gene panel ? 7544 PubMed: Haer-Wigman 2017 family - no Netherlands - - 0 - - 1 LOVD
+/. - c.11+5G>A r.spl p.? Parent #1 - pathogenic (recessive) g.68915573C>T g.68449890C>T - - RPE65_000058 - PubMed: Van Huet 2015 - - Germline - - - 0 - DNA PE, SEQ - APEX retinal disease - PubMed: Van Huet 2015 carrier - - Netherlands - - 0 - - 1 LOVD
+?/. 1i c.11+5G>A r.spl p.(?) Parent #1 ACMG likely pathogenic g.68915573C>T g.68449890C>T - - RPE65_000058 - Tracewska 2021, MolVis in press - - Germline yes 0,0002 (in-house database, ~5000 samples) - 0 - DNA SEQ-NG-I, SEQ blood targeted resequencing using MIPs library prep, 108-gene panel retinal disease 390 Tracewska 2021, MolVis in press proband F no Poland Slavic - 0 yes - 1 LOVD
+?/. - c.11+5G>A r.spl? p.(?) Parent #1 - likely pathogenic g.68915573C>T g.68449890C>T RPE65, variant 1: c.11+5G>A/p.?, variant 2: c.725+2T>A/p.? - RPE65_000058 solved, compound heterozygous PubMed: Weisschuh 2020 - - Germline yes - - 0 - DNA SEQ-NG blood RET1 targeted sequencing panel - see paper retinal disease 94 PubMed: Weisschuh 2020 Filing key number: 45, Leber congenital amaurosis, no patient Ids, consecutive numbers given F - Germany - - 0 - - 1 LOVD
+?/. - c.11+5G>A r.spl? p.(?) Parent #1 - likely pathogenic g.68915573C>T g.68449890C>T RPE65, variant 1: c.11+5G>A/p.?, variant 2: c.130C>T/p.R44* - RPE65_000058 solved, compound heterozygous PubMed: Weisschuh 2020 - - Unknown ? - - 0 - DNA SEQ-NG blood RET8 targeted sequencing panel - see paper retinal disease 340 PubMed: Weisschuh 2020 Filing key number: 113, Leber congenital amaurosis, no patient Ids, consecutive numbers given M - Germany - - 0 - - 1 LOVD
+?/. - c.11+5G>A r.spl? p.(?) Unknown - likely pathogenic g.68915573C>T g.68449890C>T RPE65 c.11+5G>A, - RPE65_000058 heterozygous PubMed: Turro 2020 - - Germline/De novo (untested) ? - - 0 - DNA SEQ-NG-I blood whole genome sequencing retinal disease W000255 PubMed: Turro 2020 only individuals with mutations in retinal disease genes from this publication were inserted into LOVD ? - - - - 0 - - 1 LOVD
?/. - c.11+5G>A r.spl p.(?) Both (homozygous) - VUS g.68915573C>T g.68449890C>T RPE65 nucleotide 1, protein 1:c.11+5G>A, p.? - RPE65_000058 homozygous, ACMG unclassified - no access to supplementary table 2 PubMed: Hull 2020 - - Germline ? - - 0 - DNA ? blood NGS gene panel investigation in 60 families, Sanger sequencing in 27 families, and Asper microarray in 25 families retinal disease 50 PubMed: Hull 2020 - ? - New Zealand white - 0 - - 1 LOVD
?/. - c.11+5G>A r.spl? p.(?) Unknown ACMG VUS g.68915573C>T g.68449890C>T RPE65 c.11+SG>A; p.? - RPE65_000058 heterozygous PubMed: Sallum 2020 - - Unknown ? - - 0 - DNA ? blood 224 gene IRD panel 93 patients, 280–300 gene IRD panel 21 patients, 20 gene LCA panel 20 patients, from whole exome 1 patient, SNP array 10 patients, Sanger Sequencing from one gene analysis 2 patien retinal disease 80 PubMed: Sallum 2020 - ? - Brazil - - 0 - - 1 LOVD
+?/. - c.11+5G>A r.spl? p.(?) Maternal (confirmed) - likely pathogenic g.68915573C>T g.68449890C>T RPE65 IVS1+5g>A - RPE65_000058 heterozygous PubMed: Preising 2007 - - Unknown ? - - 0 - DNA SSCA, SEQ blood - retinal disease 47_1 PubMed: Preising 2007 family 47, individual 1 ? - - - - 0 - - 1 LOVD
+?/. - c.11+5G>A r.spl? p.(?) Paternal (confirmed) - likely pathogenic g.68915573C>T g.68449890C>T RPE65 IVS1+5g>a - RPE65_000058 heterozygous PubMed: Preising 2007 - - Germline yes - - 0 - DNA SSCA, SEQ blood - retinal disease 189_1 PubMed: Preising 2007 family 189, individual 1 ? - - - - 0 - - 1 LOVD
+?/. - c.11+5G>A r.spl? p.(?) Maternal (confirmed) - likely pathogenic g.68915573C>T g.68449890C>T RPE65 IVS1+5g>A - RPE65_000058 heterozygous PubMed: Preising 2007 - - Germline yes - - 0 - DNA SSCA, SEQ blood - retinal disease 1038_1 PubMed: Preising 2007 family 1038, individual 1 ? - - - - 0 - - 1 LOVD
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