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.

105 entries on 2 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.(1102T>C) - p.Tyr368His Unknown - NA g.(68903896A>G) g.(68438213A>G) Y368H - RPE65_000001 expression cloning activity <0.03 PubMed: Redmond 2005 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+?/. 10 c.1102T>C r.(?) p.(Tyr368His) Parent #2 - likely pathogenic (recessive) g.68903896A>G g.68438213A>G - - RPE65_000001 predicted to affect function, but insufficient evidence for definite conclusion PubMed: Neveling 2012 - - Germline yes - - - - DNA SEQ, SEQ-NG-S - - retinal disease - - - M - - - - - - - 1 Kornelia Neveling
+?/+? 10 c.1102T>C r.(?) p.(Tyr368His) Both (homozygous) - likely pathogenic (recessive) g.68903896A>G g.68438213A>G - - RPE65_000001 - PubMed: Ripamonti 2014 - - Germline yes 7/18 chromosomes AflIII+;BcoDI+;BsmAI+;CviAII+;FatI+;NlaIII+;NspI+;PciI+ - - DNA ? - - LCA - PubMed: Ripamonti 2014 - M ? - ? - - - - 1 Muhammad Ajmal
+?/+? 10 c.1102T>C r.(?) p.(Tyr368His) Both (homozygous) - likely pathogenic (recessive) g.68903896A>G g.68438213A>G - - RPE65_000001 - PubMed: Ripamonti 2014 - - Germline yes 7/18 chromosomes AflIII+;BcoDI+;BsmAI+;CviAII+;FatI+;NlaIII+;NspI+;PciI+ - - DNA ? - - LCA - PubMed: Ripamonti 2014 - M ? - ? - - - - 1 Muhammad Ajmal
+?/+? 10 c.1102T>C r.(?) p.(Tyr368His) Both (homozygous) - likely pathogenic (recessive) g.68903896A>G g.68438213A>G - - RPE65_000001 - PubMed: Ripamonti 2014 - - Germline yes 7/18 chromosomes AflIII+;BcoDI+;BsmAI+;CviAII+;FatI+;NlaIII+;NspI+;PciI+ - - DNA ? - - LCA - PubMed: Ripamonti 2014 - M ? - ? - - - - 1 Muhammad Ajmal
+?/+? 10 c.1102T>C r.(?) p.(Tyr368His) Unknown - likely pathogenic (recessive) g.68903896A>G g.68438213A>G - - RPE65_000001 - PubMed: Ripamonti 2014 - - Germline yes 7/18 chromosomes AflIII+;BcoDI+;BsmAI+;CviAII+;FatI+;NlaIII+;NspI+;PciI+ - - DNA ? - - LCA - PubMed: Ripamonti 2014 - M ? - ? - - - - 1 Muhammad Ajmal
+?/+? 10 c.1102T>C r.(?) p.(Tyr368His) Both (homozygous) - likely pathogenic (recessive) g.68903896A>G g.68438213A>G - - RPE65_000001 - PubMed: Jacobson 2012 - - Germline yes - AflIII+;BcoDI+;BsmAI+;CviAII+;FatI+;NlaIII+;NspI+;PciI+ - - DNA ? - - LCA - PubMed: Jacobson 2012 - M ? - ? - - - - 1 Muhammad Ajmal
+?/+? 10 c.1102T>C r.(?) p.(Tyr368His) Unknown - likely pathogenic (recessive) g.68903896A>G g.68438213A>G - - RPE65_000001 - PubMed: Jacobson 2012 - - Germline yes - AflIII+;BcoDI+;BsmAI+;CviAII+;FatI+;NlaIII+;NspI+;PciI+ - - DNA ? - - LCA - PubMed: Jacobson 2012 - F ? - ? - - - - 1 Muhammad Ajmal
+?/+? 10 c.1102T>C r.(?) p.(Tyr368His) Both (homozygous) - likely pathogenic (recessive) g.68903896A>G g.68438213A>G - - RPE65_000001 - PubMed: Hauswirth 2008 - - Germline yes 1/3 cases AflIII+;BcoDI+;BsmAI+;CviAII+;FatI+;NlaIII+;NspI+;PciI+ - - DNA PCR, SEQ - - LCA - PubMed: Hauswirth 2008 - M ? - ? - - - - 1 Muhammad Ajmal
+?/+? 10 c.1102T>C r.(?) p.(Tyr368His) Both (homozygous) - likely pathogenic (recessive) g.68903896A>G g.68438213A>G - - RPE65_000001 - PubMed: Sundaresan 2009 - - Germline yes - AflIII+;BcoDI+;BsmAI+;CviAII+;FatI+;NlaIII+;NspI+;PciI+ - - DNA PCR, SEQ - - LCA - PubMed: Sundaresan 2009 4-generation family, 2 affected F yes India Indian - - - - 2 Muhammad Ajmal
+?/+? 10 c.1102T>C r.(?) p.(Tyr368His) Both (homozygous) - likely pathogenic (recessive) g.68903896A>G g.68438213A>G - - RPE65_000001 - PubMed: Sundaresan 2009 - - Germline yes - AflIII+;BcoDI+;BsmAI+;CviAII+;FatI+;NlaIII+;NspI+;PciI+ - - DNA PCR, SEQ - - LCA - PubMed: Sundaresan 2009 4-generation family, 2 affected F yes India Indian - - - - 1 Muhammad Ajmal
+?/+? 10 c.1102T>C r.(?) p.(Tyr368His) Both (homozygous) - likely pathogenic (recessive) g.68903896A>G g.68438213A>G - - RPE65_000001 - PubMed: Jacobson 2009 - - Germline - - AflIII+;BcoDI+;BsmAI+;CviAII+;FatI+;NlaIII+;NspI+;PciI+ - - DNA PCR, SEQ - - LCA - PubMed: Jacobson 2009 - M no - white - - - - 1 Muhammad Ajmal
+?/+? 10 c.1102T>C r.(?) p.(Tyr368His) Unknown - likely pathogenic (recessive) g.68903896A>G g.68438213A>G - - RPE65_000001 - PubMed: Jacobson 2009 - - Germline - - AflIII+;BcoDI+;BsmAI+;CviAII+;FatI+;NlaIII+;NspI+;PciI+ - - DNA PCR, SEQ - - LCA - PubMed: Jacobson 2009 - F no - white - - - - 1 Muhammad Ajmal
+?/+? 10 c.1102T>C r.(?) p.(Tyr368His) Unknown - likely pathogenic (recessive) g.68903896A>G g.68438213A>G - - RPE65_000001 - PubMed: Jacobson 2009 - - Germline - - AflIII+;BcoDI+;BsmAI+;CviAII+;FatI+;NlaIII+;NspI+;PciI+ - - DNA PCR, SEQ - - LCA - PubMed: Jacobson 2009 - F no - white - - - - 1 Muhammad Ajmal
+?/+? 10 c.1102T>C r.(?) p.(Tyr368His) Both (homozygous) - likely pathogenic (recessive) g.68903896A>G g.68438213A>G - - RPE65_000001 - PubMed: Booij 2005 - - Germline yes - AflIII+;BcoDI+;BsmAI+;CviAII+;FatI+;NlaIII+;NspI+;PciI+ - - DNA PCR, SEQ - - LCA - PubMed: Booij 2005 - ? ? - ? - - - - 1 Muhammad Ajmal
+?/+? 10 c.1102T>C r.(?) p.(Tyr368His) Unknown - likely pathogenic (recessive) g.68903896A>G g.68438213A>G - - RPE65_000001 - PubMed: Booij 2005 - - Germline yes - AflIII+;BcoDI+;BsmAI+;CviAII+;FatI+;NlaIII+;NspI+;PciI+ - - DNA PCR, SEQ - - LCA - PubMed: Booij 2005 - ? ? - ? - - - - 1 Muhammad Ajmal
+?/+? 10 c.1102T>C r.(?) p.(Tyr368His) Both (homozygous) - likely pathogenic (recessive) g.68903896A>G g.68438213A>G - - RPE65_000001 - PubMed: Jacobson 2005 - - Germline yes - AflIII+;BcoDI+;BsmAI+;CviAII+;FatI+;NlaIII+;NspI+;PciI+ - - DNA ? - - LCA - PubMed: Jacobson 2005 - M ? - ? - - - - 1 Muhammad Ajmal
+?/+? 10 c.1102T>C r.(?) p.(Tyr368His) Unknown - likely pathogenic (recessive) g.68903896A>G g.68438213A>G - - RPE65_000001 - PubMed: Jacobson 2005 - - Germline yes - AflIII+;BcoDI+;BsmAI+;CviAII+;FatI+;NlaIII+;NspI+;PciI+ - - DNA ? - - LCA - PubMed: Jacobson 2005 - F ? - ? - - - - 1 Muhammad Ajmal
+?/+? 10 c.1102T>C r.(?) p.(Tyr368His) Both (homozygous) - likely pathogenic (recessive) g.68903896A>G g.68438213A>G 1156T>C - RPE65_000001 - PubMed: Yzer 2003 - - Germline yes - AflIII+;BcoDI+;BsmAI+;CviAII+;FatI+;NlaIII+;NspI+;PciI+ - - DNA PCR, SEQ - - RD - PubMed: Yzer 2003 2-generation family, 2 affected M yes Netherlands Dutch, NW - - - - 1 Muhammad Ajmal
+?/+? 10 c.1102T>C r.(?) p.(Tyr368His) Both (homozygous) - likely pathogenic (recessive) g.68903896A>G g.68438213A>G 1156T>C - RPE65_000001 - PubMed: Yzer 2003 - - Germline yes - AflIII+;BcoDI+;BsmAI+;CviAII+;FatI+;NlaIII+;NspI+;PciI+ - - DNA PCR, SEQ - - RD - PubMed: Yzer 2003 2-generation family, 2 affected F yes Netherlands Dutch, NW - - - - 1 Muhammad Ajmal
+?/+? 10 c.1102T>C r.(?) p.(Tyr368His) Both (homozygous) - likely pathogenic (recessive) g.68903896A>G g.68438213A>G 1156T>C - RPE65_000001 - PubMed: Yzer 2003 - - Germline yes - AflIII+;BcoDI+;BsmAI+;CviAII+;FatI+;NlaIII+;NspI+;PciI+ - - DNA PCR, SEQ - - RD - PubMed: Yzer 2003 2-generation family, 1 affected F no Netherlands Dutch, NW - - - - 1 Muhammad Ajmal
+?/+? 10 c.1102T>C r.(?) p.(Tyr368His) Both (homozygous) - likely pathogenic (recessive) g.68903896A>G g.68438213A>G 1156T>C - RPE65_000001 - PubMed: Yzer 2003 - - Germline yes - AflIII+;BcoDI+;BsmAI+;CviAII+;FatI+;NlaIII+;NspI+;PciI+ - - DNA PCR, SEQ - - RD - PubMed: Yzer 2003 2-generation family, 3 affected M no Netherlands Dutch, NW - - - - 3 Muhammad Ajmal
+?/+? 10 c.1102T>C r.(?) p.(Tyr368His) Both (homozygous) - likely pathogenic (recessive) g.68903896A>G g.68438213A>G 1156T>C - RPE65_000001 - PubMed: Yzer 2003 - - Germline yes - AflIII+;BcoDI+;BsmAI+;CviAII+;FatI+;NlaIII+;NspI+;PciI+ - - DNA PCR, SEQ - - RD - PubMed: Yzer 2003 2-generation family, 3 affected M yes Netherlands Dutch, NW - - - - 3 Muhammad Ajmal
+?/+? 10 c.1102T>C r.(?) p.(Tyr368His) Both (homozygous) - likely pathogenic (recessive) g.68903896A>G g.68438213A>G 1156T>C - RPE65_000001 - PubMed: Yzer 2003 - - Germline yes - AflIII+;BcoDI+;BsmAI+;CviAII+;FatI+;NlaIII+;NspI+;PciI+ - - DNA PCR, SEQ - - RD - PubMed: Yzer 2003 2-generation family, 4 affected M no Netherlands Dutch, NW - - - - 4 Muhammad Ajmal
+?/+? 10 c.1102T>C r.(?) p.(Tyr368His) Both (homozygous) - likely pathogenic (recessive) g.68903896A>G g.68438213A>G 1156T>C - RPE65_000001 - PubMed: Yzer 2003 - - Germline yes - AflIII+;BcoDI+;BsmAI+;CviAII+;FatI+;NlaIII+;NspI+;PciI+ - - DNA PCR, SEQ - - RD - PubMed: Yzer 2003 2-generation family, 4 affected M no Netherlands Dutch, NW - - - - 1 Muhammad Ajmal
+?/+? 10 c.1102T>C r.(?) p.(Tyr368His) Both (homozygous) - likely pathogenic (recessive) g.68903896A>G g.68438213A>G 1156T>C - RPE65_000001 - PubMed: Yzer 2003 - - Germline yes - AflIII+;BcoDI+;BsmAI+;CviAII+;FatI+;NlaIII+;NspI+;PciI+ - - DNA PCR, SEQ - - RD - PubMed: Yzer 2003 2-generation family, 1 affected M no Netherlands Dutch, NW - - - - 1 Muhammad Ajmal
+?/+? 10 c.1102T>C r.(?) p.(Tyr368His) Unknown - likely pathogenic (recessive) g.68903896A>G g.68438213A>G 1156T>C - RPE65_000001 - PubMed: Yzer 2003 - - Germline yes - AflIII+;BcoDI+;BsmAI+;CviAII+;FatI+;NlaIII+;NspI+;PciI+ - - DNA PCR, SEQ - - RD - PubMed: Yzer 2003 2-generation family, 1 affected F yes Netherlands Dutch, NW - - - - 1 Muhammad Ajmal
+?/+? 10 c.1102T>C r.(?) p.(Tyr368His) Both (homozygous) - likely pathogenic (recessive) g.68903896A>G g.68438213A>G 1156T>C - RPE65_000001 - PubMed: Yzer 2003 - - Germline yes - AflIII+;BcoDI+;BsmAI+;CviAII+;FatI+;NlaIII+;NspI+;PciI+ - - DNA PCR, SEQ - - RD - PubMed: Yzer 2003 2-generation family, 3 affected M no Netherlands Dutch, NW - - - - 3 Muhammad Ajmal
+?/+? 10 c.1102T>C r.(?) p.(Tyr368His) Both (homozygous) - likely pathogenic (recessive) g.68903896A>G g.68438213A>G 1156T>C - RPE65_000001 - PubMed: Yzer 2003 - - Germline yes - AflIII+;BcoDI+;BsmAI+;CviAII+;FatI+;NlaIII+;NspI+;PciI+ - - DNA PCR, SEQ - - RD - PubMed: Yzer 2003 2-generation family, 3 affected M no Netherlands Dutch, NW - - - - 1 Muhammad Ajmal
+?/+? 10 c.1102T>C r.(?) p.(Tyr368His) Both (homozygous) - likely pathogenic (recessive) g.68903896A>G g.68438213A>G 1156T>C - RPE65_000001 - PubMed: Yzer 2003 - - Germline yes - AflIII+;BcoDI+;BsmAI+;CviAII+;FatI+;NlaIII+;NspI+;PciI+ - - DNA PCR, SEQ - - RD - PubMed: Yzer 2003 2-generation family, 3 affected M no Netherlands Dutch, NW - - - - 1 Muhammad Ajmal
+?/+? 10 c.1102T>C r.(?) p.(Tyr368His) Both (homozygous) - likely pathogenic (recessive) g.68903896A>G g.68438213A>G 1156T>C - RPE65_000001 - PubMed: Yzer 2003 - - Germline yes - AflIII+;BcoDI+;BsmAI+;CviAII+;FatI+;NlaIII+;NspI+;PciI+ - - DNA PCR, SEQ - - RD - PubMed: Yzer 2003 2-generation family, 1 affected M no Netherlands Dutch, NW - - - - 1 Muhammad Ajmal
+?/+? 10 c.1102T>C r.(?) p.(Tyr368His) Both (homozygous) - likely pathogenic (recessive) g.68903896A>G g.68438213A>G 1156T>C - RPE65_000001 - PubMed: Yzer 2003 - - Germline yes - AflIII+;BcoDI+;BsmAI+;CviAII+;FatI+;NlaIII+;NspI+;PciI+ - - DNA PCR, SEQ - - RD - PubMed: Yzer 2003 2-generation family, 4 affected F yes Netherlands Dutch, NW - - - - 4 Muhammad Ajmal
+?/+? 10 c.1102T>C r.(?) p.(Tyr368His) Maternal (confirmed) - likely pathogenic (recessive) g.68903896A>G g.68438213A>G 1156T->C - RPE65_000001 - PubMed: Felius 2002 - - Germline yes - AflIII+;BcoDI+;BsmAI+;CviAII+;FatI+;NlaIII+;NspI+;PciI+ - - DNA SEQ - - LCA - PubMed: Felius 2002 3-generation family, 2 affected M no - ? - - - - 2 Muhammad Ajmal
+?/+? 10 c.1102T>C r.(?) p.(Tyr368His) Maternal (confirmed) - likely pathogenic (recessive) g.68903896A>G g.68438213A>G 1156T->C - RPE65_000001 - PubMed: Felius 2002 - - Germline yes - AflIII+;BcoDI+;BsmAI+;CviAII+;FatI+;NlaIII+;NspI+;PciI+ - - DNA SEQ - - LCA - PubMed: Felius 2002 3-generation family, 2 affected M no - ? - - - - 1 Muhammad Ajmal
+?/+? 10 c.1102T>C r.(?) p.(Tyr368His) Unknown - likely pathogenic (recessive) g.68903896A>G g.68438213A>G 1156T->C - RPE65_000001 - PubMed: Thompson 2000 - - Germline yes - AflIII+;BcoDI+;BsmAI+;CviAII+;FatI+;NlaIII+;NspI+;PciI+ - - DNA PCR, SEQ, SSCA - - retinal degeneration - PubMed: Thompson 2000 - ? no - ? - - - - 1 Muhammad Ajmal
+?/+? 10 c.1102T>C r.(?) p.(Tyr368His) Unknown - likely pathogenic (recessive) g.68903896A>G g.68438213A>G 1156T->C - RPE65_000001 - PubMed: Thompson 2000 - - Germline yes - AflIII+;BcoDI+;BsmAI+;CviAII+;FatI+;NlaIII+;NspI+;PciI+ - - DNA PCR, SEQ, SSCA - - retinal degeneration - PubMed: Thompson 2000 - ? no - ? - - - - 1 Muhammad Ajmal
+?/+? 10 c.1102T>C r.(?) p.(Tyr368His) Maternal (confirmed) - likely pathogenic (recessive) g.68903896A>G g.68438213A>G 1156T>C - RPE65_000001 - PubMed: Lorenz 2000, PubMed: Lorenz 2004 - - Germline yes - AflIII+;BcoDI+;BsmAI+;CviAII+;FatI+;NlaIII+;NspI+;PciI+ - - DNA SSCA, SEQ - - CORD FamLPatLH PubMed: Lorenz 2000, PubMed: Lorenz 2004, PubMed: Paunescu 2004 3-generation family, 2 affected (F, M), unaffected heterozygous carrier parents M no Germany Netherlands - - - - 2 Muhammad Ajmal
+?/+? 10 c.1102T>C r.(?) p.(Tyr368His) Maternal (confirmed) - likely pathogenic (recessive) g.68903896A>G g.68438213A>G 1156T>C - RPE65_000001 - PubMed: Lorenz 2000, PubMed: Lorenz 2004 - - Germline yes - AflIII+;BcoDI+;BsmAI+;CviAII+;FatI+;NlaIII+;NspI+;PciI+ - - DNA SSCA, SEQ - - CORD FamLPatLJ PubMed: Lorenz 2000, PubMed: Lorenz 2004, PubMed: Paunescu 2004 sister F no Germany Netherlands - - - - 1 Muhammad Ajmal
+?/+? 10 c.1102T>C r.(?) p.(Tyr368His) Unknown - likely pathogenic (recessive) g.68903896A>G g.68438213A>G - - RPE65_000001 unknown variant 2ndchromosome PubMed: Henderson 2007 - - Germline yes - BsmAI+ - - DNA arraySEQ, PCR, SEQ - - LCA - PubMed: Henderson 2007 - ? ? - ? - - - - 1 Muhammad Ajmal
+?/+? 10 c.1102T>C r.(?) p.(Tyr368His) Unknown - likely pathogenic (recessive) g.68903896A>G g.68438213A>G - - RPE65_000001 - PubMed: Henderson 2007 - - Germline yes - BsmAI+ - - DNA arraySEQ, PCR, SEQ - - LCA - PubMed: Henderson 2007 - ? ? - ? - - - - 1 Muhammad Ajmal
+?/+? 10 c.1102T>C r.(?) p.(Tyr368His) Unknown - likely pathogenic (recessive) g.68903896A>G g.68438213A>G - - RPE65_000001 unknown variant 2ndchromosome PubMed: Stone 2007 - - Germline - - NspI+ - - DNA SSCA, SEQ - - LCA - PubMed: Stone 2007 - ? ? - ? - - - - 1 Muhammad Ajmal
+?/+? 10 c.1102T>C r.(?) p.(Tyr368His) Unknown - likely pathogenic (recessive) g.68903896A>G g.68438213A>G - - RPE65_000001 unknown variant 2ndchromosome PubMed: Stone 2007 - - Germline - - NspI+ - - DNA SSCA, SEQ - - LCA - PubMed: Stone 2007 - ? ? - ? - - - - 1 Muhammad Ajmal
+?/+? 10 c.1102T>C r.(?) p.(Tyr368His) Unknown - likely pathogenic (recessive) g.68903896A>G g.68438213A>G - - RPE65_000001 unknown variant 2ndchromosome PubMed: Stone 2007 - - Germline - - NspI+ - - DNA SSCA, SEQ - - LCA - PubMed: Stone 2007 - ? ? - ? - - - - 1 Muhammad Ajmal
+?/+? 10 c.1102T>C r.(?) p.(Tyr368His) Unknown - likely pathogenic (recessive) g.68903896A>G g.68438213A>G - - RPE65_000001 unknown variant 2ndchromosome PubMed: Stone 2007 - - Germline - - NspI+ - - DNA SSCA, SEQ - - LCA - PubMed: Stone 2007 - ? ? - ? - - - - 1 Muhammad Ajmal
+?/+? 10 c.1102T>C r.(?) p.(Tyr368His) Both (homozygous) - likely pathogenic (recessive) g.68903896A>G g.68438213A>G - - RPE65_000001 - PubMed: Jacobson 2007 - - Germline - - NspI+ - - DNA ? - - LCA - PubMed: Jacobson 2007 - ? ? United States American - - - - 1 Muhammad Ajmal
+?/+? 10 c.1102T>C r.(?) p.(Tyr368His) Unknown - likely pathogenic (recessive) g.68903896A>G g.68438213A>G - - RPE65_000001 - PubMed: Jacobson 2007 - - Germline - - NspI+ - - DNA ? - - LCA - PubMed: Jacobson 2007 - ? ? United States American - - - - 1 Muhammad Ajmal
+/. - c.1102T>C r.(?) p.(Tyr368His) Unknown - pathogenic g.68903896A>G g.68438213A>G RPE65(NM_000329.3):c.1102T>C (p.Y368H) - RPE65_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1102T>C - p.Tyr368His Unknown - NA g.68903896A>G g.68438213A>G Y368H - RPE65_000001 expression cloning abolished isomerohydrolase activity, reduced protein level, descreased protein stability, probably disrupted membrane association PubMed: Takahashi 2006 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1102T>C r.(?) p.(Tyr368His) Parent #1 - pathogenic (recessive) g.68903896A>G g.68438213A>G - - RPE65_000001 - PubMed: Chung 2019 - - Germline - - - - - DNA SEQ - - retinal disease - PubMed: Chung 2019 study natural history disease; individual possibly reported before - - - - - - - - 1 LOVD
+/. - c.1102T>C r.(?) p.(Tyr368His) Parent #1 - pathogenic (recessive) g.68903896A>G g.68438213A>G - - RPE65_000001 - PubMed: Chung 2019 - - Germline - - - - - DNA SEQ - - retinal disease - PubMed: Chung 2019 study natural history disease; individual possibly reported before - - - - - - - - 1 LOVD
+/. - c.1102T>C r.(?) p.(Tyr368His) Both (homozygous) - pathogenic (recessive) g.68903896A>G g.68438213A>G - - RPE65_000001 - PubMed: Pierrache 2020 - - Germline - - - - - DNA SEQ - - retinal disease PatA1 PubMed: Pierrache 2020 study natural history disease; individual possibly reported in Yzer 2003 M - Netherlands - - - - - 1 LOVD
+/. - c.1102T>C r.(?) p.(Tyr368His) Both (homozygous) - pathogenic (recessive) g.68903896A>G g.68438213A>G - - RPE65_000001 - PubMed: Pierrache 2020 - - Germline - - - - - DNA SEQ - - retinal disease PatB1 PubMed: Pierrache 2020 study natural history disease; individual possibly reported in Yzer 2003 M - Netherlands - - - - - 1 LOVD
+/. - c.1102T>C r.(?) p.(Tyr368His) Both (homozygous) - pathogenic (recessive) g.68903896A>G g.68438213A>G - - RPE65_000001 - PubMed: Pierrache 2020 - - Germline - - - - - DNA SEQ - - retinal disease PatB2 PubMed: Pierrache 2020 study natural history disease; individual possibly reported in Yzer 2003 M - Netherlands - - - - - 1 LOVD
+/. - c.1102T>C r.(?) p.(Tyr368His) Both (homozygous) - pathogenic (recessive) g.68903896A>G g.68438213A>G - - RPE65_000001 - PubMed: Pierrache 2020 - - Germline - - - - - DNA SEQ - - retinal disease PatC1 PubMed: Pierrache 2020 study natural history disease; individual possibly reported in Yzer 2003 M - Netherlands - - - - - 1 LOVD
+/. - c.1102T>C r.(?) p.(Tyr368His) Both (homozygous) - pathogenic (recessive) g.68903896A>G g.68438213A>G - - RPE65_000001 - PubMed: Pierrache 2020 - - Germline - - - - - DNA SEQ - - retinal disease PatD1 PubMed: Pierrache 2020 study natural history disease; individual possibly reported in Yzer 2003 M - Netherlands - - - - - 1 LOVD
+/. - c.1102T>C r.(?) p.(Tyr368His) Both (homozygous) - pathogenic (recessive) g.68903896A>G g.68438213A>G - - RPE65_000001 - PubMed: Pierrache 2020 - - Germline - - - - - DNA SEQ - - retinal disease PatF1 PubMed: Pierrache 2020 study natural history disease; individual possibly reported in Yzer 2003 M - Netherlands - - - - - 1 LOVD
+/. - c.1102T>C r.(?) p.(Tyr368His) Parent #1 - pathogenic (recessive) g.68903896A>G g.68438213A>G - - RPE65_000001 - PubMed: Pierrache 2020 - - Germline - - - - - DNA SEQ - - retinal disease PatJ1 PubMed: Pierrache 2020 study natural history disease; individual possibly reported before M - - - - - - - 1 LOVD
+/. - c.1102T>C r.(?) p.(Tyr368His) Both (homozygous) - pathogenic (recessive) g.68903896A>G g.68438213A>G - - RPE65_000001 - PubMed: Pierrache 2020 - - Germline - - - - - DNA SEQ - - retinal disease PatK1 PubMed: Pierrache 2020 study natural history disease; individual possibly reported in Yzer 2003 F - Netherlands - - - - - 1 LOVD
+/. - c.1102T>C r.(?) p.(Tyr368His) Both (homozygous) - pathogenic (recessive) g.68903896A>G g.68438213A>G - - RPE65_000001 - PubMed: Pierrache 2020 - - Germline - - - - - DNA SEQ - - retinal disease PatK2 PubMed: Pierrache 2020 study natural history disease; individual possibly reported in Yzer 2003 F - Netherlands - - - - - 1 LOVD
+/. - c.1102T>C r.(?) p.(Tyr368His) Parent #1 - pathogenic (recessive) g.68903896A>G g.68438213A>G - - RPE65_000001 - PubMed: Pierrache 2020 - - Germline - - - - - DNA SEQ - - retinal disease PatM1 PubMed: Pierrache 2020 study natural history disease; individual possibly reported before M - - - - - - - 1 LOVD
+/. - c.1102T>C r.(?) p.(Tyr368His) Both (homozygous) - pathogenic (recessive) g.68903896A>G g.68438213A>G - - RPE65_000001 - PubMed: Pierrache 2020 - - Germline - - - - - DNA SEQ - - retinal disease PatO1 PubMed: Pierrache 2020 study natural history disease; individual possibly reported in Yzer 2003 M - Netherlands - - - - - 1 LOVD
+/. - c.1102T>C r.(?) p.(Tyr368His) Both (homozygous) - pathogenic (recessive) g.68903896A>G g.68438213A>G - - RPE65_000001 - PubMed: Pierrache 2020 - - Germline - - - - - DNA SEQ - - retinal disease PatO2 PubMed: Pierrache 2020 study natural history disease; individual possibly reported in Yzer 2003 F - Netherlands - - - - - 1 LOVD
+/. - c.1102T>C r.(?) p.(Tyr368His) Both (homozygous) - pathogenic (recessive) g.68903896A>G g.68438213A>G - - RPE65_000001 - PubMed: Pierrache 2020 - - Germline - - - - - DNA SEQ - - retinal disease PatO3 PubMed: Pierrache 2020 study natural history disease; individual possibly reported in Yzer 2003 M - Netherlands - - - - - 1 LOVD
+/. - c.1102T>C r.(?) p.(Tyr368His) Parent #1 - pathogenic (recessive) g.68903896A>G g.68438213A>G - - RPE65_000001 - PubMed: Pierrache 2020 - - Germline - - - - - DNA SEQ - - retinal disease PatP1 PubMed: Pierrache 2020 study natural history disease; individual possibly reported before F - - - - - - - 1 LOVD
+/. - c.1102T>C r.(?) p.(Tyr368His) Parent #1 - pathogenic (recessive) g.68903896A>G g.68438213A>G - - RPE65_000001 - PubMed: Pierrache 2020 - - Germline - - - - - DNA SEQ - - retinal disease PatR1 PubMed: Pierrache 2020 study natural history disease; individual possibly reported before M - - - - - - - 1 LOVD
+/. - c.1102T>C r.(?) p.(Tyr368His) Both (homozygous) - pathogenic (recessive) g.68903896A>G g.68438213A>G - - RPE65_000001 - PubMed: Pierrache 2020 - - Germline - - - - - DNA SEQ - - retinal disease PatS1 PubMed: Pierrache 2020 study natural history disease; individual possibly reported in Yzer 2003 M - Netherlands - - - - - 1 LOVD
+/. - c.1102T>C r.(?) p.(Tyr368His) Both (homozygous) - pathogenic (recessive) g.68903896A>G g.68438213A>G - - RPE65_000001 - PubMed: Pierrache 2020 - - Germline - - - - - DNA SEQ - - retinal disease PatT1 PubMed: Pierrache 2020 study natural history disease; individual possibly reported in Yzer 2003 F - Netherlands - - - - - 1 LOVD
+/. - c.1102T>C r.(?) p.(Tyr368His) Both (homozygous) - pathogenic (recessive) g.68903896A>G g.68438213A>G - - RPE65_000001 - PubMed: Pierrache 2020 - - Germline - - - - - DNA SEQ - - retinal disease PatT2 PubMed: Pierrache 2020 study natural history disease; individual possibly reported in Yzer 2003 F - Netherlands - - - - - 1 LOVD
+/. - c.1102T>C r.(?) p.(Tyr368His) Both (homozygous) - pathogenic (recessive) g.68903896A>G g.68438213A>G - - RPE65_000001 - PubMed: Pierrache 2020 - - Germline - - - - - DNA SEQ - - retinal disease PatU1 PubMed: Pierrache 2020 study natural history disease; individual possibly reported in Yzer 2003 F - Netherlands - - - - - 1 LOVD
+/. - c.1102T>C r.(?) p.(Tyr368His) Both (homozygous) - pathogenic (recessive) g.68903896A>G g.68438213A>G - - RPE65_000001 - PubMed: Pierrache 2020 - - Germline - - - - - DNA SEQ - - retinal disease PatV1 PubMed: Pierrache 2020 study natural history disease; individual possibly reported in Yzer 2003 M - Netherlands - - - - - 1 LOVD
+/. - c.1102T>C r.(?) p.(Tyr368His) Both (homozygous) - pathogenic (recessive) g.68903896A>G g.68438213A>G - - RPE65_000001 - PubMed: Pierrache 2020 - - Germline - - - - - DNA SEQ - - retinal disease PatV2 PubMed: Pierrache 2020 study natural history disease; individual possibly reported in Yzer 2003 F - Netherlands - - - - - 1 LOVD
+/. - c.1102T>C r.(?) p.(Tyr368His) Both (homozygous) - pathogenic (recessive) g.68903896A>G g.68438213A>G - - RPE65_000001 - PubMed: Pierrache 2020 - - Germline - - - - - DNA SEQ - - retinal disease PatV3 PubMed: Pierrache 2020 study natural history disease; individual possibly reported in Yzer 2003 M - Netherlands - - - - - 1 LOVD
+/. - c.1102T>C r.(?) p.(Tyr368His) Parent #1 - pathogenic (recessive) g.68903896A>G g.68438213A>G - - RPE65_000001 - PubMed: Pierrache 2020 - - Germline - - - - - DNA SEQ - - retinal disease PatW1 PubMed: Pierrache 2020 study natural history disease; individual possibly reported in Yzer 2003 F - Netherlands - - - - - 1 LOVD
+/. - c.1102T>C r.(?) p.(Tyr368His) Parent #1 - pathogenic (recessive) g.68903896A>G g.68438213A>G - - RPE65_000001 - PubMed: Pierrache 2020 - - Germline - - - - - DNA SEQ - - retinal disease PatZ1 PubMed: Pierrache 2020 study natural history disease; individual possibly reported before F - - - - - - - 1 LOVD
+/. - c.1102T>C r.(?) p.(Tyr368His) Both (homozygous) - pathogenic (recessive) g.68903896A>G g.68438213A>G - - RPE65_000001 - PubMed: Pierrache 2020 - - Germline - - - - - DNA SEQ - - retinal disease PatAC1 PubMed: Pierrache 2020 study natural history disease; individual possibly reported in Yzer 2003 F - Netherlands - - - - - 1 LOVD
+/. - c.1102T>C r.(?) p.(Tyr368His) Parent #1 - pathogenic (recessive) g.68903896A>G g.68438213A>G - - RPE65_000001 - PubMed: Pierrache 2020 - - Germline - - - - - DNA SEQ - - retinal disease PatAE1 PubMed: Pierrache 2020 study natural history disease; individual possibly reported before M - - - - - - - 1 LOVD
+/. - c.1102T>C r.(?) p.(Tyr368His) Both (homozygous) - pathogenic (recessive) g.68903896A>G g.68438213A>G - - RPE65_000001 - PubMed: Pierrache 2020 - - Germline - - - - - DNA SEQ - - retinal disease PatAF1 PubMed: Pierrache 2020 study natural history disease; individual possibly reported in Yzer 2003 F - Netherlands - - - - - 1 LOVD
+/. - c.1102T>C r.(?) p.(Tyr368His) Both (homozygous) - pathogenic (recessive) g.68903896A>G g.68438213A>G - - RPE65_000001 - PubMed: Pierrache 2020 - - Germline - - - - - DNA SEQ - - retinal disease PatAG1 PubMed: Pierrache 2020 study natural history disease; individual possibly reported in Yzer 2003 M - Netherlands - - - - - 1 LOVD
+/. - c.1102T>C r.(?) p.(Tyr368His) Parent #2 - pathogenic (recessive) g.68903896A>G g.68438213A>G - - RPE65_000001 - PubMed: Chung 2019 - - Germline - - - - - DNA SEQ - - retinal disease - PubMed: Chung 2019 study natural history disease; individual possibly reported before - - - - - - - - 1 LOVD
+/. - c.1102T>C r.(?) p.(Tyr368His) Parent #2 - pathogenic (recessive) g.68903896A>G g.68438213A>G - - RPE65_000001 - PubMed: Chung 2019 - - Germline - - - - - DNA SEQ - - retinal disease - PubMed: Chung 2019 study natural history disease; individual possibly reported before - - - - - - - - 1 LOVD
+/. - c.1102T>C r.(?) p.(Tyr368His) Parent #2 - pathogenic (recessive) g.68903896A>G g.68438213A>G - - RPE65_000001 - PubMed: Chung 2019 - - Germline - - - - - DNA SEQ - - retinal disease - PubMed: Chung 2019 study natural history disease; individual possibly reported before - - - - - - - - 1 LOVD
+/. - c.1102T>C r.(?) p.(Tyr368His) Parent #2 - pathogenic (recessive) g.68903896A>G g.68438213A>G - - RPE65_000001 - PubMed: Chung 2019 - - Germline - - - - - DNA SEQ - - retinal disease - PubMed: Chung 2019 study natural history disease; individual possibly reported before - - - - - - - - 1 LOVD
+/. - c.1102T>C r.(?) p.(Tyr368His) Parent #2 - pathogenic (recessive) g.68903896A>G g.68438213A>G - - RPE65_000001 - PubMed: Chung 2019 - - Germline - - - - - DNA SEQ - - retinal disease - PubMed: Chung 2019 study natural history disease; individual possibly reported before - - - - - - - - 1 LOVD
+/. - c.1102T>C r.(?) p.(Tyr368His) Parent #2 - pathogenic (recessive) g.68903896A>G g.68438213A>G - - RPE65_000001 - PubMed: Chung 2019 - - Germline - - - - - DNA SEQ - - retinal disease - PubMed: Chung 2019 study natural history disease; individual possibly reported before - - - - - - - - 1 LOVD
+/. - c.1102T>C r.(?) p.(Tyr368His) Parent #2 - pathogenic (recessive) g.68903896A>G g.68438213A>G - - RPE65_000001 - PubMed: Chung 2019 - - Germline - - - - - DNA SEQ - - retinal disease - PubMed: Chung 2019 study natural history disease; individual possibly reported before - - - - - - - - 1 LOVD
+?/. - c.1102T>C r.(?) p.(Tyr368His) Parent #2 - likely pathogenic (recessive) g.68903896A>G g.68438213A>G - - RPE65_000001 - PubMed: Bryant 2018 - rs62653011 Germline - - - - - DNA SEQ-NG - WES retinal disease JB357 PubMed: Bryant 2018 - - - United States - - - - - 1 LOVD
+/. - c.1102T>C r.(?) p.(Tyr368His) Unknown - pathogenic g.68903896A>G g.68438213A>G - - RPE65_000001 - PubMed: Haer-Wigman 2017 - - Germline - - - - - DNA SEQ-NG - gene panel ? 5710 PubMed: Haer-Wigman 2017 patient - yes Netherlands - - - - - 1 LOVD
+/. - c.1102T>C r.(?) p.(Tyr368His) Unknown - pathogenic g.68903896A>G g.68438213A>G - - RPE65_000001 - PubMed: Haer-Wigman 2017 - - Germline - - - - - DNA SEQ-NG - gene panel ? 5710 PubMed: Haer-Wigman 2017 patient - yes Netherlands - - - - - 1 LOVD
+/. - c.1102T>C r.(?) p.(Tyr368His) Unknown ACMG pathogenic g.68903896A>G g.68438213A>G RPE65 c.329A>G, p.(Asp110Gly), c.1102T>C, p.(Tyr368His) - RPE65_000001 - PubMed: Jespersgaar 2019 - - Germline ? - - - - DNA SEQ-NG-I blood 125 genes associated with inherited retinal disorders, see paper supplemental data retinal disease 461 PubMed: Jespersgaar 2019 - ? - Denmark - - - - - 1 LOVD
+?/. 10 c.1102T>C r.(?) p.(Tyr368His) Both (homozygous) - likely pathogenic g.68903896A>G g.68438213A>G c.1102T>C, p.(Tyr368His) - RPE65_000001 Homozygous PubMed: Tayebi 2019 - - Germline yes - - - - DNA SEQ-NG-I blood 108-gene panel targeted resequencing using MIPs library prep retinal disease 066864 PubMed: Tayebi 2019 - - - Iran - - - - - 1 LOVD
+?/. 10 c.1102T>C r.(?) p.(Tyr368His) Both (homozygous) - likely pathogenic g.68903896A>G g.68438213A>G c.1102T>C, p.(Tyr368His) - RPE65_000001 Homozygous PubMed: Tayebi 2019 - - Germline yes - - - - DNA SEQ-NG-I blood 108-gene panel targeted resequencing using MIPs library prep retinal disease 066869 PubMed: Tayebi 2019 - - - Iran - - - - - 1 LOVD
+/. - c.1102T>C r.(?) p.(Tyr368His) Unknown - pathogenic g.68903896A>G g.68438213A>G RPE65 c.1102T>C, p.Tyr368His - RPE65_000001 heterozygous PubMed: Zampaglione 2020 - - Unknown ? - - - - DNA SEQ-NG-I, SEQ blood - retinal disease 039-188 PubMed: Zampaglione 2020 - ? - - - - - - - 1 LOVD
+?/. 10 c.1102T>C r.(?) p.(Tyr368His) Maternal (confirmed) - likely pathogenic (recessive) g.68903896A>G - c.1102T>C p.(Tyr368His) - RPE65_000001 variant originally described as homozygous PubMed: Ellingsford 2018 - - Germline - - - - - DNA SEQ-NG - CNV gene panel next-generation sequencing retinal disease 84929 PubMed: Ellingsford 2018 - - - United Kingdom (Great Britain) - - - - - 1 LOVD
+?/. - c.1102T>C r.(?) p.(Tyr368His) Parent #1 - likely pathogenic g.68903896A>G g.68438213A>G RPE65, variant 1: c.130C>T/p.R44*, variant 2: c.1102T>C/p.Y368H - RPE65_000001 solved, compound heterozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ-NG blood RET3 targeted sequencing panel - see paper retinal disease 102 PubMed: Weisschuh 2020 Filing key number: 48, sporadic retinitis pigmentosa, no patient Ids, consecutive numbers given M - Germany - - - - - 1 LOVD
+/. 10 c.1102T>C r.(?) p.(Tyr368His) Both (homozygous) - pathogenic g.68903896A>G - (Tyr368His TAT>CAT) - RPE65_000001 - PubMed: Sundaresan-2009 - - Germline - - - - - DNA SEQ blood allele-specific ligation assay and bidirectional sequencing retinal disease Patient ILCA-65–1 PubMed: Sundaresan-2009 - - yes India Southern India - - - - 1 LOVD
+?/. - c.1102T>C r.(?) p.(Tyr368His) Unknown - likely pathogenic g.68903896A>G g.68438213A>G RPE65 c.1102T>C, p.Y368H - RPE65_000001 heterozygous PubMed: Wiszniewski 2011 - - Unknown ? - - - - DNA SEQ blood - retinal disease ? PubMed: Wiszniewski 2011 family Ar-089 ? - United States - - - - - 1 LOVD
+?/. - c.1102T>C r.(?) p.(Tyr368His) Maternal (confirmed) - likely pathogenic g.68903896A>G g.68438213A>G RPE65 p.Y368H (c.1102T>C) - RPE65_000001 heterozygous PubMed: Preising 2007 - - Germline yes - - - - DNA SSCA, SEQ blood - retinal disease 168_2 PubMed: Preising 2007 family 168, individual 2 ? - - - - - - - 1 LOVD
+?/. - c.1102T>C r.(?) p.(Tyr368His) Paternal (confirmed) - likely pathogenic g.68903896A>G g.68438213A>G RPE65 p.Y368H (c.1102T>C) - RPE65_000001 heterozygous PubMed: Preising 2007 - - Germline yes - - - - DNA SSCA, SEQ blood - retinal disease 1038_1 PubMed: Preising 2007 family 1038, individual 1 ? - - - - - - - 1 LOVD
+/. - c.1102T>C r.(?) p.(Tyr368His) Unknown - pathogenic g.68903896A>G - RPE65(NM_000329.3):c.1102T>C (p.Y368H) - RPE65_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1102T>C r.(?) p.(Tyr368His) Both (homozygous) - pathogenic g.68903896A>G g.68438213A>G RPE65 c.1102T>C, p.Tyr368His - RPE65_000001 homozygous PubMed: Scholl 2015 - - Unknown ? - - - - DNA ? - patients already genotyped for clinical trials retinal disease 201 PubMed: Scholl 2015 M - - - - - - - daily oral dose of 40 mg/m2/day 9-cis-retinyl acetate (QLT091001) 1 LOVD
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