Full data view for gene RDH12

This database is one of the "Eye disease" gene variant databases.
Information The variants shown are described using the NM_152443.2 transcript reference sequence.

91 entries on 1 page. Showing entries 1 - 91.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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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     

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Age at death     

VIP     

Data_av     

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Owner     
+/. 8 c.806_810del r.(?) p.(Ala269Glyfs*2) Unknown - pathogenic g.68196055_68196059del g.67729338_67729342del - - RDH12_000008 - - - - Unknown - - - - - DNA SEQ-NG-I - - RP - - - - - (United States) - - - - - 1 Feng Wang
+/. 8 c.806_810del r.(?) p.(Ala269Glyfs*2) Unknown - pathogenic g.68196055_68196059del g.67729338_67729342del - - RDH12_000008 - - - - Unknown - - - - - DNA SEQ-NG-I - - RP - - - - - (United States) - - - - - 1 Feng Wang
+/. 8 c.806_810del r.(?) p.(Ala269Glyfs*2) Unknown - pathogenic g.68196055_68196059del g.67729338_67729342del - - RDH12_000008 - - - - Unknown - - - - - DNA SEQ-NG-I - - RP - - - - - (United States) - - - - - 1 Feng Wang
+/. - c.806_810del r.(?) p.(Ala269GlyfsTer2) Unknown - pathogenic g.68196055_68196059del g.67729338_67729342del RDH12(NM_152443.2):c.806_810delCCCTG (p.A269Gfs*2), RDH12(NM_152443.3):c.806_810delCCCTG (p.A269Gfs*2) - RDH12_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.806_810del r.(?) p.(Ala269GlyfsTer2) Unknown - pathogenic g.68196055_68196059del g.67729338_67729342del RDH12(NM_152443.2):c.806_810delCCCTG (p.A269Gfs*2), RDH12(NM_152443.3):c.806_810delCCCTG (p.A269Gfs*2) - RDH12_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 8 c.806_810del r.(?) p.(Ala269Glyfs*2) Both (homozygous) - likely pathogenic (recessive) g.68196055_68196059del g.67729338_67729342del - - RDH12_000008 - PubMed: Boulanger-Scemama 2015, PubMed: Boulanger-Scemama 2019 - rs386834261 Germline - - - - - DNA SEQ, SEQ-NG - 123 gene panel retinal disease CIC05394 PubMed: Boulanger-Scemama 2015, PubMed: Boulanger-Scemama 2019 - - - France - - - - - 1 Global Variome, with Curator vacancy
+?/. 8 c.806_810del r.(?) p.(Ala269Glyfs*2) Parent #1 - likely pathogenic (recessive) g.68196055_68196059del g.67729338_67729342del - - RDH12_000008 - PubMed: Boulanger-Scemama 2015, PubMed: Boulanger-Scemama 2019 - rs386834261 Germline - - - - - DNA SEQ, SEQ-NG - 123 gene panel retinal disease CIC07447 PubMed: Boulanger-Scemama 2015, PubMed: Boulanger-Scemama 2019 - - - France - - - - - 1 Global Variome, with Curator vacancy
+?/. - c.806_810del r.(?) p.(Ala269Glyfs*2) Parent #1 - likely pathogenic g.68196055_68196059del g.67729338_67729342del 805_809delGCCCT - RDH12_000008 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 418 PubMed: Stone 2017 family, 2 affected M - (United States) - - - - - 2 LOVD
+?/. - c.806_810del r.(?) p.(Ala269Glyfs*2) Both (homozygous) - likely pathogenic g.68196055_68196059del g.67729338_67729342del 805_809delGCCCT - RDH12_000008 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 419 PubMed: Stone 2017 1 affected F - (United States) - - - - - 1 LOVD
+?/. - c.806_810del r.(?) p.(Ala269Glyfs*2) Parent #1 - likely pathogenic g.68196055_68196059del g.67729338_67729342del 805_809delGCCCT - RDH12_000008 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 420 PubMed: Stone 2017 1 affected M - (United States) - - - - - 1 LOVD
+?/. - c.806_810del r.(?) p.(Ala269Glyfs*2) Parent #1 - likely pathogenic g.68196055_68196059del g.67729338_67729342del 805_809delGCCCT - RDH12_000008 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 421 PubMed: Stone 2017 family, 2 affected M - (United States) - - - - - 2 LOVD
+/. - c.806_810del r.(?) p.(Ala269Glyfs*2) Unknown - pathogenic g.68196055_68196059del g.67729338_67729342del - - RDH12_000008 - PubMed: Haer-Wigman 2017 - - Germline - - - - - DNA SEQ-NG - gene panel ? 838 PubMed: Haer-Wigman 2017 patient - no Netherlands - - - - - 1 LOVD
+/. - c.806_810del r.(?) p.(Ala269Glyfs*2) Parent #2 - pathogenic (recessive) g.68196055_68196059del g.67729338_67729342del - - RDH12_000008 - PubMed: Tiwari 2016 - - Germline - - - - - DNA SEQ-NG - WES retinal disease Case71868 PubMed: Tiwari 2016 see paper M - Switzerland - - - - - 1 LOVD
+/. - c.806_810del r.(?) p.(Ala269Glyfs*2) Both (homozygous) - pathogenic g.68196055_68196059del g.67729338_67729342del 805_809del - RDH12_000008 - PubMed: Ge 2015 - - Germline - - - - - DNA SEQ-NG - 195-gene panel retinal disease 34U+F.88 PubMed: Ge 2015 simplex case - - United States - - - - - 1 LOVD
+/. - c.806_810del r.(?) p.(Ala269GlyfsTer2) Both (homozygous) - pathogenic g.68196055_68196059del g.67729338_67729342del 806_810del5 - RDH12_000008 - PubMed: Méndez-Vidal 2014 - - Germline - - - - - DNA arraySEQ - Reseq retinal disease Pat6 PubMed: Méndez-Vidal 2014 - - - Spain - - - - - 1 LOVD
+/. 8 c.806_810del r.(?) p.(Ala269Glyfs*2) Both (homozygous) ACMG pathogenic g.68196055_68196059del g.67729338_67729342del - - RDH12_000008 - Tracewska 2021, MolVis in press - - Germline yes 0 (in-house database, ~5000 samples) - - - DNA SEQ-NG-I, SEQ blood targeted resequencing using MIPs library prep, 108-gene panel retinal disease 300 Tracewska 2021, MolVis in press proband M no Poland Slavic - - yes - 1 LOVD
+/. 8 c.806_810del r.(?) p.(Ala269Glyfs*2) Unknown - pathogenic g.68196055_68196059del - c.805_809del - RDH12_000008 - PubMed: Wang-2013 - - Unknown - - - - - DNA SEQ-NG blood - retinal disease - PubMed: Wang-2013 - - no - - - - - - 1 Julia Lopez
+/. 8 c.806_810del r.(?) p.(Ala269Glyfs*2) Unknown - pathogenic g.68196055_68196059del - c.805_809del - RDH12_000008 - PubMed: Wang-2013 - - Unknown - - - - - DNA SEQ-NG blood - retinal disease - PubMed: Wang-2013 - - no - - - - - - 1 Julia Lopez
+/. 8 c.806_810del r.(?) p.(Ala269Glyfs*2) Unknown - pathogenic g.68196055_68196059del - c.805_809del - RDH12_000008 - PubMed: Wang-2013 - - Unknown - - - - - DNA SEQ-NG blood - retinal disease - PubMed: Wang-2013 - - no - - - - - - 1 Julia Lopez
+/. 8 c.806_810del r.(?) p.(Ala269Glyfs*2) Unknown - pathogenic g.68196055_68196059del - c.806_810del - RDH12_000008 - PubMed: Wang-2014 - - Unknown - - - - - DNA PCR, SEQ-NG blood or a saliva sample - retinal disease - PubMed: Wang-2014 - - no - - - - - - 1 LOVD
+/. 8 c.806_810del r.(?) p.(Ala269Glyfs*2) Unknown - pathogenic g.68196055_68196059del - c.806_810del - RDH12_000008 - PubMed: Wang-2014 - - Unknown - - - - - DNA PCR, SEQ-NG blood or a saliva sample - retinal disease - PubMed: Wang-2014 - - no - - - - - - 1 LOVD
+/. 8 c.806_810del r.(?) p.(Ala269Glyfs*2) Unknown - pathogenic g.68196055_68196059del - c.806_810del - RDH12_000008 - PubMed: Wang-2014 - - Unknown - - - - - DNA PCR, SEQ-NG blood or a saliva sample - retinal disease - PubMed: Wang-2014 - - no - - - - - - 1 LOVD
+/. 7 c.806_810del r.(?) p.(Ala269Glyfs*2) Unknown ACMG pathogenic g.68196055_68196059del g.67729338_67729342del c.806_810delCCCTG, p.A269Gfs*2 - RDH12_000008 Heterozygous PubMed: Birtel 2018 - rs386834261 Germline - - - - - DNA SEQ-NG blood - retinal disease 29 PubMed: Birtel 2018 - F - Germany - - - - - 1 LOVD
+?/. - c.806_810del r.(?) p.(Ala269Glyfs*2) Both (homozygous) - likely pathogenic g.68196055_68196059del g.67729338_67729342del c.806_810del5; p.Ala269GlyfsTer2 - RDH12_000008 confirmed with Sanger sequencing; homozygous PubMed: Patel 2019 - - Germline ? - - - - DNA SEQ-NG blood - LCA13;RP53 7 PubMed: Patel 2019 - ? - United Kingdom (Great Britain) - - - - - 1 LOVD
+?/. 8 c.806_810del r.(?) p.(Ala269Glyfs*2) Both (homozygous) - likely pathogenic g.68196055_68196059del g.67729338_67729342del RDH12 Ex.8 c.806_810del p.(Ala269Glyfs*2), Ex.8 c.806_810del p.(Ala269Glyfs*2) - RDH12_000008 homozygous PubMed: Martin Merida 2019 - - Germline/De novo (untested) ? - - - - DNA arraySNP - - retinal disease RP-0837 PubMed: Martin Merida 2019 - ? - Spain - - - - - 1 LOVD
+?/. 8 c.806_810del r.(?) p.(Ala269Glyfs*2) Unknown - likely pathogenic g.68196055_68196059del g.67729338_67729342del RDH12 Ex.8 c.806_810del p.(Ala269Glyfs*2), Ex.8 c.701G>A p.(Arg234His) - RDH12_000008 compound heterozygous PubMed: Martin Merida 2019 - - Germline yes - - - - DNA arraySNP - - retinal disease RP-1791 PubMed: Martin Merida 2019 - ? - Spain - - - - - 1 LOVD
+/. - c.806_810del r.(?) p.(Ala269Glyfs*2) Unknown ACMG pathogenic g.68196055_68196059del g.67729338_67729342del c.806_810del; p.(Ala269Glyfs*2) - RDH12_000008 heterozygous, individual solved, variant causal PubMed: Rodriguez-Munoz 2020 - - Germline yes - - - - DNA SEQ-NG-I blood - retinal disease RPN-187 PubMed: Rodriguez-Munoz 2020 family fRPN-71, family member F - Spain - - - - - 1 LOVD
+/. - c.806_810del r.(?) p.(Ala269Glyfs*2) Unknown ACMG pathogenic g.68196055_68196059del g.67729338_67729342del RDH12:NM_152443 c.806_810del, p.(Ala269Glyfs*2) - RDH12_000008 heterozygous, individual solved, variant causal PubMed: Rodriguez-Munoz 2020 - - Germline yes - - - - DNA SEQ-NG-I blood - retinal disease RPN-188 PubMed: Rodriguez-Munoz 2020 family fRPN-71, proband F - Spain - - - - - 1 LOVD
+?/. - c.806_810del r.(?) p.(Ala269Glyfs*2) Parent #1 - likely pathogenic g.68196055_68196059del g.67729338_67729342del RDH12, variant 1: c.806_810del/p.A269Gfs*2, variant 2: c.677A>G/p.Y226C - RDH12_000008 solved, compound heterozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ-NG blood RET8 targeted sequencing panel - see paper retinal disease 1214 PubMed: Weisschuh 2020 Filing key number: 946, sporadic retinitis pigmentosa, no patient Ids, consecutive numbers given M - Germany - - - - - 1 LOVD
+/. - c.806_810del r.(?) p.(Ala269Glyfs*2) Both (homozygous) - pathogenic g.68196055_68196059del g.67729338_67729342del RDH12 c.806_810delCCCTG, p.Ala269GlyfsTer2 - RDH12_000008 homozygous PubMed: Turro 2020 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG-I blood whole genome sequencing retinal disease G006018 PubMed: Turro 2020 only individuals with mutations in retinal disease genes from this publication were inserted into LOVD ? - (United Kingdom (Great Britain)) - - - - - 1 LOVD
+/. - c.806_810del r.(?) p.(Ala269Glyfs*2) Both (homozygous) - pathogenic g.68196055_68196059del g.67729338_67729342del RDH12 c.806_810delCCCTG, p.Ala269GlyfsTer2 - RDH12_000008 homozygous PubMed: Turro 2020 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG-I blood whole genome sequencing retinal disease G009840 PubMed: Turro 2020 only individuals with mutations in retinal disease genes from this publication were inserted into LOVD ? - - - - - - - 1 LOVD
+/. - c.806_810del r.(?) p.(Ala269Glyfs*2) Unknown ACMG pathogenic g.68196055_68196059del g.67729338_67729342del RDH12 c.806_810deICCCTG; p.AIa269GIyfsTer2 - RDH12_000008 homozygous PubMed: Sallum 2020 - - Unknown ? - - - - 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 68 PubMed: Sallum 2020 - ? - Brazil - - - - - 1 LOVD
+/. - c.806_810del r.(?) p.(Ala269Glyfs*2) Unknown ACMG pathogenic g.68196055_68196059del g.67729338_67729342del RDH12 c.806_810deICCCTG; p.AIa269GIyfsTer2 - RDH12_000008 heterozygous PubMed: Sallum 2020 - - Unknown ? - - - - 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 72 PubMed: Sallum 2020 - ? - Brazil - - - - - 1 LOVD
+/. - c.806_810del r.(?) p.(Ala269Glyfs*2) Unknown ACMG pathogenic g.68196055_68196059del g.67729338_67729342del RDH12 c.806_810deICCCTG; p.AIa269GIyfsTer2 - RDH12_000008 heterozygous PubMed: Sallum 2020 - - Unknown ? - - - - 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 121 PubMed: Sallum 2020 - ? - Brazil - - - - - 1 LOVD
+?/. - c.806_810del r.(?) p.(Ala269Glyfs*2) Both (homozygous) - likely pathogenic g.68196055_68196059del g.67729338_67729342del RDH12 p.A269GfsXI - RDH12_000008 homozygous PubMed: Schuster 2007 - - Germline yes - - - - DNA SEQ blood - retinal disease IV_8 PubMed: Schuster 2007 family IV, individual 8 ? - Germany - - - - - 1 LOVD
+?/. - c.806_810del r.(?) p.(Ala269Glyfs*2) Parent #1 - likely pathogenic g.68196055_68196059del g.67729338_67729342del RDH12 p.A269GfsX1 - RDH12_000008 heterozygous PubMed: Schuster 2007 - - Germline yes - - - - DNA SEQ blood - retinal disease VI_10 PubMed: Schuster 2007 family VI, individual 10 ? - Turkey - - - - - 1 LOVD
+?/. - c.806_810del r.(?) p.(Ala269Glyfs*2) Both (homozygous) - likely pathogenic g.68196055_68196059del g.67729338_67729342del RDH12 p.A269GfsXI - RDH12_000008 homozygous PubMed: Schuster 2007 - - Germline yes - - - - DNA SEQ blood - retinal disease X_14 PubMed: Schuster 2007 family X, individual 14 ? - Germany - - - - - 1 LOVD
+?/. - c.806_810del r.(?) p.(Ala269Glyfs*2) Both (homozygous) - likely pathogenic g.68196055_68196059del g.67729338_67729342del RDH12 p.A269GfsXI - RDH12_000008 homozygous PubMed: Schuster 2007 - - Germline yes - - - - DNA SEQ blood - retinal disease XI_15 PubMed: Schuster 2007 family XI, individual 15 ? - Germany - - - - - 1 LOVD
+?/. - c.806_810del r.(?) p.(Ala269Glyfs*2) Parent #2 - likely pathogenic g.68196055_68196059del g.67729338_67729342del RDH12 p.A269GfsXI - RDH12_000008 heterozygous PubMed: Schuster 2007 - - Germline yes - - - - DNA SEQ blood - retinal disease XII_16 PubMed: Schuster 2007 family XII, individual 16 ? - Germany - - - - - 1 LOVD
+?/. - c.806_810del r.(?) p.(Ala269Glyfs*2) Parent #2 - likely pathogenic g.68196055_68196059del g.67729338_67729342del RDH12 c.806_810del5bp, p.A269AfsX1 - RDH12_000008 error in annotation first ffected amino acid rule shifts it to p.A0269GfsX2; heterozygous PubMed: Mackay 2011 - - Unknown ? - - - - DNA arraySNP, SEQ blood method of identification: Asper chip retinal disease 3 PubMed: Mackay 2011 - ? no United Kingdom (Great Britain) white - - - - 1 LOVD
+?/. - c.806_810del r.(?) p.(Ala269Glyfs*2) Parent #2 - likely pathogenic g.68196055_68196059del g.67729338_67729342del RDH12 c.806_810del5bp, p.A269AfsX1 - RDH12_000008 error in annotation first ffected amino acid rule shifts it to p.A0269GfsX2; heterozygous PubMed: Mackay 2011 - - Unknown ? - - - - DNA arraySNP, SEQ blood method of identification: Asper chip retinal disease 4 PubMed: Mackay 2011 - ? no United Kingdom (Great Britain) white - - - - 1 LOVD
+?/. - c.806_810del r.(?) p.(Ala269Glyfs*2) Parent #2 - likely pathogenic g.68196055_68196059del g.67729338_67729342del RDH12 c.806_810del5bp, p.A269AfsX1 - RDH12_000008 error in annotation first ffected amino acid rule shifts it to p.A0269GfsX2; heterozygous PubMed: Mackay 2011 - - Unknown ? - - - - DNA arraySNP, SEQ blood method of identification: Asper chip retinal disease 5 PubMed: Mackay 2011 - ? no United Kingdom (Great Britain) white - - - - 1 LOVD
+?/. - c.806_810del r.(?) p.(Ala269Glyfs*2) Parent #2 - likely pathogenic g.68196055_68196059del g.67729338_67729342del RDH12 c.806_810del5bp, p.A269AfsX1 - RDH12_000008 error in annotation first ffected amino acid rule shifts it to p.A0269GfsX2; heterozygous PubMed: Mackay 2011 - - Unknown ? - - - - DNA arraySNP, SEQ blood method of identification: Asper chip retinal disease 6 PubMed: Mackay 2011 - ? no United Kingdom (Great Britain) white - - - - 1 LOVD
+?/. - c.806_810del r.(?) p.(Ala269Glyfs*2) Parent #2 - likely pathogenic g.68196055_68196059del g.67729338_67729342del RDH12 c.806_810del5bp, p.A269AfsX1 - RDH12_000008 error in annotation, first ffected amino acid rule shifts it to p.A0269GfsX2; heterozygous PubMed: Mackay 2011 - - Unknown ? - - - - DNA arraySNP, SEQ blood method of identification: Asper chip retinal disease 10 PubMed: Mackay 2011 - ? no - white - - - - 1 LOVD
+?/. - c.806_810del r.(?) p.(Ala269Glyfs*2) Parent #2 - likely pathogenic g.68196055_68196059del g.67729338_67729342del RDH12 c.806_810del5bp, p.A269AfsX1 - RDH12_000008 error in annotation, first ffected amino acid rule shifts it to p.A0269GfsX2; heterozygous PubMed: Mackay 2011 - - Unknown ? - - - - DNA arraySNP, SEQ blood method of identification: Asper chip retinal disease 11 PubMed: Mackay 2011 - ? no United Kingdom (Great Britain) white - - - - 1 LOVD
+?/. - c.806_810del r.(?) p.(Ala269Glyfs*2) Parent #2 - likely pathogenic g.68196055_68196059del g.67729338_67729342del RDH12 c.806_810del5bp, p.A269AfsX1 - RDH12_000008 error in annotation, first ffected amino acid rule shifts it to p.A0269GfsX2; heterozygous PubMed: Mackay 2011 - - Unknown ? - - - - DNA SEQ blood method of identification: Phenotype retinal disease 29 PubMed: Mackay 2011 - ? no - white - - - - 1 LOVD
+?/. - c.806_810del r.(?) p.(Ala269Glyfs*2) Parent #1 - likely pathogenic g.68196055_68196059del g.67729338_67729342del RDH12 c.806_810delCCCTG, Ala269Glyfs*2 - RDH12_000008 single heterozygous variant PubMed: Fahim 2019 - - Unknown ? - - - - RNA RT-PCR, SEQ blood - retinal disease 9 PubMed: Fahim 2019 - M - United States - - - - - 1 LOVD
+?/. - c.806_810del r.(?) p.(Ala269Glyfs*2) Parent #1 - likely pathogenic g.68196055_68196059del g.67729338_67729342del RDH12 c.806_810delCCCTG, Ala269Glyfs*2 - RDH12_000008 single heterozygous variant PubMed: Fahim 2019 - - Unknown ? - - - - RNA RT-PCR, SEQ blood - retinal disease 10 PubMed: Fahim 2019 - F - United States - - - - - 1 LOVD
+?/. - c.806_810del r.(?) p.(Ala269Glyfs*2) Parent #1 - likely pathogenic g.68196055_68196059del g.67729338_67729342del RDH12 c.806_810delCCCTG, Ala269Glyfs*2 - RDH12_000008 heterozygous PubMed: Fahim 2019 - - Unknown ? - - - - RNA RT-PCR, SEQ blood - retinal disease 11 PubMed: Fahim 2019 - M - United States - - - - - 1 LOVD
+?/. - c.806_810del r.(?) p.(Ala269Glyfs*2) Parent #1 - likely pathogenic g.68196055_68196059del g.67729338_67729342del RDH12 c.806_810delCCCTG, Ala269Glyfs*2 - RDH12_000008 single heterozygous variant PubMed: Fahim 2019 - - Unknown ? - - - - RNA RT-PCR, SEQ blood - retinal disease 12 PubMed: Fahim 2019 - M - United States - - - - - 1 LOVD
+?/. - c.806_810del r.(?) p.(Ala269Glyfs*2) Parent #1 - likely pathogenic g.68196055_68196059del g.67729338_67729342del RDH12 c.806_810delCCCTG, Ala269Glyfs*2 - RDH12_000008 single heterozygous variant PubMed: Fahim 2019 - - Unknown ? - - - - RNA RT-PCR, SEQ blood - retinal disease 13 PubMed: Fahim 2019 - F - United States - - - - - 1 LOVD
+?/. - c.806_810del r.(?) p.(Ala269Glyfs*2) Parent #1 - likely pathogenic g.68196055_68196059del g.67729338_67729342del RDH12 c.806_810delCCCTG, Ala269Glyfs*2 - RDH12_000008 single heterozygous variant PubMed: Fahim 2019 - - Unknown ? - - - - RNA RT-PCR, SEQ blood - retinal disease 14 PubMed: Fahim 2019 - F - United States - - - - - 1 LOVD
+?/. - c.806_810del r.(?) p.(Ala269Glyfs*2) Parent #1 - likely pathogenic g.68196055_68196059del g.67729338_67729342del RDH12 c.806_810delCCCTG, Ala269Glyfs*2 - RDH12_000008 single heterozygous variant PubMed: Fahim 2019 - - Unknown ? - - - - RNA RT-PCR, SEQ blood - retinal disease 17 PubMed: Fahim 2019 - F - United States - - - - - 1 LOVD
+?/. - c.806_810del r.(?) p.(Ala269Glyfs*2) Both (homozygous) - likely pathogenic g.68196055_68196059del g.67729338_67729342del RDH12 c.806_810delCCCTG, Ala269Glyfs*2 - RDH12_000008 homozygous PubMed: Fahim 2019 - - Unknown ? - - - - RNA RT-PCR, SEQ blood - retinal disease 19 PubMed: Fahim 2019 - M - United States - - - - - 1 LOVD
+?/. - c.806_810del r.(?) p.(Ala269Glyfs*2) Parent #2 - likely pathogenic g.68196055_68196059del g.67729338_67729342del RDH12 c.806_810delCCCTG, Ala269Glyfs*2 - RDH12_000008 heterozygous PubMed: Fahim 2019 - - Unknown ? - - - - RNA RT-PCR, SEQ blood - retinal disease 24 PubMed: Fahim 2019 - F - United States - - - - - 1 LOVD
+?/. - c.806_810del r.(?) p.(Ala269Glyfs*2) Parent #1 - likely pathogenic g.68196055_68196059del g.67729338_67729342del RDH12 c.806_810delCCCTG, Ala269Glyfs*2 - RDH12_000008 single heterozygous variant PubMed: Fahim 2019 - - Unknown ? - - - - RNA RT-PCR, SEQ blood - retinal disease 43 PubMed: Fahim 2019 - M - United States - - - - - 1 LOVD
+?/. - c.806_810del r.(?) p.(Ala269Glyfs*2) Parent #2 - likely pathogenic g.68196055_68196059del g.67729338_67729342del RDH12 c.806_810delCCCTG, Ala269Glyfs*2 - RDH12_000008 heterozygous PubMed: Fahim 2019 - - Unknown ? - - - - RNA RT-PCR, SEQ blood - retinal disease 46 PubMed: Fahim 2019 - M - United States - - - - - 1 LOVD
+?/. - c.806_810del r.(?) p.(Ala269Glyfs*2) Parent #1 - likely pathogenic g.68196055_68196059del g.67729338_67729342del RDH12 c.806_810delCCCTG, Ala269Glyfs*2 - RDH12_000008 heterozygous PubMed: Fahim 2019 - - Unknown ? - - - - RNA RT-PCR, SEQ blood - retinal disease 51 PubMed: Fahim 2019 - M - United States - - - - - 1 LOVD
+?/. - c.806_810del r.(?) p.(Ala269Glyfs*2) Both (homozygous) - likely pathogenic g.68196055_68196059del g.67729338_67729342del RDH12 c.806_810delCCCTG, Ala269Glyfs*2 - RDH12_000008 homozygous PubMed: Fahim 2019 - - Unknown ? - - - - RNA RT-PCR, SEQ blood - retinal disease 53 PubMed: Fahim 2019 - F - United States - - - - - 1 LOVD
+?/. - c.806_810del r.(?) p.(Ala269Glyfs*2) Parent #1 - likely pathogenic g.68196055_68196059del g.67729338_67729342del RDH12 c.806_810delCCCTG, Ala269Glyfs*2 - RDH12_000008 single heterozygous variant PubMed: Fahim 2019 - - Unknown ? - - - - RNA RT-PCR, SEQ blood - retinal disease 57 PubMed: Fahim 2019 - M - United States - - - - - 1 LOVD
+?/. - c.806_810del r.(?) p.(Ala269Glyfs*2) Parent #1 - likely pathogenic g.68196055_68196059del g.67729338_67729342del RDH12 c.806_810del, p.(Ala269Glyfs*2) - RDH12_000008 error in annotation should be c.806_810delCCCTG and not c.806_820delCCCTG, no protein annotation; heterozygous PubMed: Philip 2019 - - Unknown ? - - - - DNA ? - - retinal disease 1 PubMed: Philip 2019 - M - United States - - - - - 1 LOVD
+?/. 6 c.806_810del r.(?) p.(Ala269Glyfs*2) Unknown - likely pathogenic g.68196055_68196059del g.67729338_67729342del RDH12 c.806_820delCCCTG - RDH12_000008 error in annotation, should be RDH12 c.806_810delCCCTG heterozygous PubMed: Garg 2017 - - Unknown ? - - - - DNA SEQ - - retinal disease - PubMed: Garg 2017 Family 3, proband M - United States - - - - - 1 LOVD
+/. 8 c.806_810del r.(?) p.(Ala269Glyfs*2) Both (homozygous) - pathogenic g.68196055_68196059del - c.806_810del - RDH12_000008 - PubMed: Panneman 2023 - - Unknown - - - - - DNA SEQ - RP-LCA smMIPs sequencing RP - PubMed: Panneman 2023 - M - - - - - - - 1 Daan Panneman
+?/. 6 c.806_810delCCCTG r.(?) p.(Ala269Glyfs*2) Maternal (confirmed) - likely pathogenic g.68196055_68196059del g.67729338_67729342del RDH12 c.806_810delCCCTG, p.Ala269fsX270 - RDH12_000008 error in annotation, stop codon occurs after 2 amino acids and not 270 (p.Ala269Glyfs*2); heterozygous PubMed: Perrault 2004 - - Germline yes - - - - DNA DHPLC, SEQ blood - retinal disease family 3, individual II-2 PubMed: Perrault 2004 family 3, individual II-2 (proband) F no France - - - - - 1 LOVD
+?/. 6 c.806_810delCCCTG r.(?) p.(Ala269Glyfs*2) Maternal (confirmed) - likely pathogenic g.68196055_68196059del g.67729338_67729342del RDH12 c.806_810delCCCTG, p.Ala269fsX270 - RDH12_000008 error in annotation, stop codon occurs after 2 amino acids and not 270 (p.Ala269Glyfs*2); heterozygous PubMed: Perrault 2004 - - Germline yes - - - - DNA DHPLC, SEQ blood - retinal disease family 3, individual II-3 PubMed: Perrault 2004 family 3, individual II-3 (proband's sister) F no France - - - - - 1 LOVD
+?/. 6 c.806_810delCCCTG r.(?) p.(Ala269Glyfs*2) Maternal (confirmed) - likely pathogenic g.68196055_68196059del g.67729338_67729342del RDH12 c.806_810delCCCTG, p.Ala269fsX270 - RDH12_000008 error in annotation, stop codon occurs after 2 amino acids and not 270 (p.Ala269Glyfs*2); heterozygous PubMed: Perrault 2004 - - Germline yes - - - - DNA DHPLC, SEQ blood - retinal disease family 4, individual II-1 PubMed: Perrault 2004 family 4, individual II-1 (proband) F no France - - - - - 1 LOVD
+?/. 6 c.806_810delCCCTG r.(?) p.(Ala269Glyfs*2) Maternal (confirmed) - likely pathogenic g.68196055_68196059del g.67729338_67729342del RDH12 c.806_810delCCCTG, p.Ala269fsX270 - RDH12_000008 error in annotation, stop codon occurs after 2 amino acids and not 270 (p.Ala269Glyfs*2); heterozygous PubMed: Perrault 2004 - - Germline yes - - - - DNA DHPLC, SEQ blood - retinal disease family 4, individual II-2 PubMed: Perrault 2004 family 4, individual II-2 (proband's sister) F no France - - - - - 1 LOVD
+?/. 6 c.806_810delCCCTG r.(?) p.(Ala269Glyfs*2) Maternal (confirmed) - likely pathogenic g.68196055_68196059del g.67729338_67729342del RDH12 c.806_810delCCCTG, p.Ala269fsX270 - RDH12_000008 error in annotation, stop codon occurs after 2 amino acids and not 270 (p.Ala269Glyfs*2); heterozygous PubMed: Perrault 2004 - - Germline yes - - - - DNA DHPLC, SEQ blood - retinal disease family 7, individual II-1 PubMed: Perrault 2004 family 7, individual II-1 (proband) M no France - - - - - 1 LOVD
+?/. 6 c.806_810delCCCTG r.(?) p.(Ala269Glyfs*2) Both (homozygous) - likely pathogenic g.68196055_68196059del g.67729338_67729342del RDH12 c.806_810delCCCTG, p.Ala269fsX270 - RDH12_000008 error in annotation, stop codon occurs after 2 amino acids and not 270 (p.Ala269Glyfs*2); homozygous PubMed: Perrault 2004 - - Germline yes - - - - DNA DHPLC, SEQ blood - retinal disease family 8, individual II-1 PubMed: Perrault 2004 family 8, individual II-1 (proband) F no France - - - - - 1 LOVD
+?/. 6 c.806_810delCCCTG r.(?) p.(Ala269Glyfs*2) Both (homozygous) - likely pathogenic g.68196055_68196059del g.67729338_67729342del RDH12 c.806_810delCCCTG, p.Ala269GlyfsX1 - RDH12_000008 homozygous PubMed: Thompson 2005 - - Germline yes - - - - DNA DHPLC, SEQ blood - retinal disease 93 PubMed: Thompson 2005 - ? - - - - - - - 1 LOVD
+?/. 6 c.806_810delCCCTG r.(?) p.(Ala269Glyfs*2) Paternal (confirmed) - likely pathogenic g.68196055_68196059del g.67729338_67729342del RDH12 c.806_810delCCCTG, p.Ala269GlyfsX1 - RDH12_000008 reduced ability to convert all-trans retinal to all-trans retinol in the presence of NADPH , heterozygous PubMed: Thompson 2005 - - Germline yes - - - - DNA DHPLC, SEQ blood - retinal disease 131 PubMed: Thompson 2005 - ? - - - - - - - 1 LOVD
+?/. 6 c.806_810delCCCTG r.(?) p.(Ala269Glyfs*2) Maternal (confirmed) - likely pathogenic g.68196055_68196059del g.67729338_67729342del RDH12 c.806_810delCCCTG, p.Ala269GlyfsX1 - RDH12_000008 reduced ability to convert all-trans retinal to all-trans retinol in the presence of NADPH , heterozygous PubMed: Thompson 2005 - - Germline yes - - - - DNA DHPLC, SEQ blood - retinal disease 603 PubMed: Thompson 2005 - ? - - - - - - - 1 LOVD
+?/. 6 c.806_810delCCCTG r.(?) p.(Ala269Glyfs*2) Maternal (confirmed) - likely pathogenic g.68196055_68196059del g.67729338_67729342del RDH12 c.806_810delCCCTG, p.Ala269GlyfsX1 - RDH12_000008 heterozygous PubMed: Thompson 2005 - - Germline yes - - - - DNA DHPLC, SEQ blood - retinal disease 915 PubMed: Thompson 2005 - ? - - - - - - - 1 LOVD
+?/. 6 c.806_810delCCCTG r.(?) p.(Ala269Glyfs*2) Unknown - likely pathogenic g.68196055_68196059del g.67729338_67729342del RDH12 c.806_810delCCCTG, p.Ala269GlyfsX1 - RDH12_000008 reduced ability to convert all-trans retinal to all-trans retinol in the presence of NADPH , heterozygous PubMed: Thompson 2005 - - Germline yes - - - - DNA DHPLC, SEQ blood - retinal disease 1921 PubMed: Thompson 2005 - ? - - - - - - - 1 LOVD
+?/. 6 c.806_810delCCCTG r.(?) p.(Ala269Glyfs*2) Unknown - likely pathogenic g.68196055_68196059del g.67729338_67729342del RDH12 A269fsX270 - RDH12_000008 non-detectable protein levels; no enzymatic activity; heterozygous PubMed: Sun 2007 - - Unknown ? - - - - DNA SEQ blood - retinal disease Patient 1 PubMed: Sun 2007 - - - Italy - - - - - 1 LOVD
+?/. - c.806_810delCCCTG r.(?) p.(Ala269Glyfs*2) Parent #2 - likely pathogenic (dominant) g.68196055_68196059del g.67729338_67729342del RDH12 c.806_810delCCCTG - RDH12_000008 heterozygous PubMed: Valverde 2009 - - Unknown ? - - - - DNA arraySNP, SEQ blood - retinal disease M131 (1962) PubMed: Valverde 2009 - - - Spain - - - - - 1 LOVD
+?/. - c.806_810delCCCTG r.(?) p.(Ala269Glyfs*2) Parent #1 - likely pathogenic g.68196055_68196059del g.67729338_67729342del RDH12 Ala269del - RDH12_000008 no nucleotide written, extrapolated from protein, databases and publications; error in annotation, in paper Ala 269del is described as ""a frameshift mutation leads to a premature stop codon in exon 6"", references point to c.806_810delCCCTG, p.(Ala269Glyfs*2); heterozygous PubMed: Aleman 2018 - - Unknown ? - - - - DNA ? saliva - retinal disease P1 PubMed: Aleman 2018 - F - - German, Scottish, Cherokee - - - - 1 LOVD
+?/. - c.806_810delCCCTG r.(?) p.(Ala269Glyfs*2) Parent #1 - likely pathogenic g.68196055_68196059del g.67729338_67729342del RDH12 Ala269del - RDH12_000008 no nucleotide written, extrapolated from protein, databases and publications; error in annotation, in paper Ala 269del is described as ""a frameshift mutation leads to a premature stop codon in exon 6"", references point to c.806_810delCCCTG, p.(Ala269Glyfs*2); heterozygous PubMed: Aleman 2018 - - Unknown ? - - - - DNA ? saliva - retinal disease P2 PubMed: Aleman 2018 - F - - German,Irish, English, Dutch - - - - 1 LOVD
+?/. - c.806_810delCCCTG r.(?) p.(Ala269Glyfs*2) Parent #1 - likely pathogenic g.68196055_68196059del g.67729338_67729342del RDH12 Ala269del - RDH12_000008 no nucleotide written, extrapolated from protein, databases and publications; error in annotation, in paper Ala 269del is described as ""a frameshift mutation leads to a premature stop codon in exon 6"", references point to c.806_810delCCCTG, p.(Ala269Glyfs*2); heterozygous PubMed: Aleman 2018 - - Unknown ? - - - - DNA ? saliva - retinal disease P3 PubMed: Aleman 2018 - M - - German,Irish, English, Dutch - - - - 1 LOVD
+?/. - c.806_810delCCCTG r.(?) p.(Ala269Glyfs*2) Parent #1 - likely pathogenic g.68196055_68196059del g.67729338_67729342del RDH12 Ala269del - RDH12_000008 no nucleotide written, extrapolated from protein, databases and publications; error in annotation, in paper Ala 269del is described as ""a frameshift mutation leads to a premature stop codon in exon 6"", references point to c.806_810delCCCTG, p.(Ala269Glyfs*2); heterozygous PubMed: Aleman 2018 - - Unknown ? - - - - DNA ? saliva - retinal disease P4 PubMed: Aleman 2018 - M - - German - - - - 1 LOVD
+?/. - c.806_810delCCCTG r.(?) p.(Ala269Glyfs*2) Parent #1 - likely pathogenic g.68196055_68196059del g.67729338_67729342del RDH12 Ala269del - RDH12_000008 no nucleotide written, extrapolated from protein, databases and publications; error in annotation, in paper Ala 269del is described as ""a frameshift mutation leads to a premature stop codon in exon 6"", references point to c.806_810delCCCTG, p.(Ala269Glyfs*2); heterozygous PubMed: Aleman 2018 - - Unknown ? - - - - DNA ? saliva - retinal disease P6 PubMed: Aleman 2018 - F - - German, Scottish, Cherokee - - - - 1 LOVD
+?/. - c.806_810delCCCTG r.(?) p.(Ala269Glyfs*2) Both (homozygous) - likely pathogenic g.68196055_68196059del g.67729338_67729342del RDH12 Ala269del - RDH12_000008 no nucleotide written, extrapolated from protein, databases and publications; error in annotation, in paper Ala 269del is described as ""a frameshift mutation leads to a premature stop codon in exon 6"", references point to c.806_810delCCCTG, p.(Ala269Glyfs*2); homozygous PubMed: Aleman 2018 - - Unknown ? - - - - DNA ? saliva - retinal disease P11 PubMed: Aleman 2018 - F - - German - - - - 1 LOVD
+?/. - c.806_810delCCCTG r.(?) p.(Ala269Glyfs*2) Parent #1 - likely pathogenic g.68196055_68196059del g.67729338_67729342del RDH12 Ala269del - RDH12_000008 no nucleotide written, extrapolated from protein, databases and publications; error in annotation, in paper Ala 269del is described as ""a frameshift mutation leads to a premature stop codon in exon 6"", references point to c.806_810delCCCTG, p.(Ala269Glyfs*2); heterozygous PubMed: Aleman 2018 - - Unknown ? - - - - DNA ? saliva - retinal disease P13 PubMed: Aleman 2018 - F - - German,Irish, English,Italian - - - - 1 LOVD
+?/. - c.806_810delCCCTG r.(?) p.(Ala269Glyfs*2) Parent #1 - likely pathogenic g.68196055_68196059del g.67729338_67729342del RDH12 Ala269del - RDH12_000008 no nucleotide written, extrapolated from protein, databases and publications; error in annotation, in paper Ala 269del is described as ""a frameshift mutation leads to a premature stop codon in exon 6"", references point to c.806_810delCCCTG, p.(Ala269Glyfs*2); heterozygous PubMed: Aleman 2018 - - Unknown ? - - - - DNA ? saliva - retinal disease P15 PubMed: Aleman 2018 - M - - German,Irish, Scottish - - - - 1 LOVD
+?/. - c.806_810delCCCTG r.(?) p.(Ala269Glyfs*2) Parent #1 - likely pathogenic g.68196055_68196059del g.67729338_67729342del RDH12 Ala269del - RDH12_000008 no nucleotide written, extrapolated from protein, databases and publications; error in annotation, in paper Ala 269del is described as ""a frameshift mutation leads to a premature stop codon in exon 6"", references point to c.806_810delCCCTG, p.(Ala269Glyfs*2); heterozygous PubMed: Aleman 2018 - - Unknown ? - - - - DNA ? saliva - retinal disease P16 PubMed: Aleman 2018 - F - - Irish, Scottish, Welsh - - - - 1 LOVD
+?/. - c.806_810delCCCTG r.(?) p.(Ala269Glyfs*2) Parent #1 - likely pathogenic g.68196055_68196059del g.67729338_67729342del RDH12 Ala269del - RDH12_000008 no nucleotide written, extrapolated from protein, databases and publications; error in annotation, in paper Ala 269del is described as ""a frameshift mutation leads to a premature stop codon in exon 6"", references point to c.806_810delCCCTG, p.(Ala269Glyfs*2); heterozygous PubMed: Aleman 2018 - - Unknown ? - - - - DNA ? saliva - retinal disease P17 PubMed: Aleman 2018 - F - - German, Scottish, Cherokee - - - - 1 LOVD
+?/. - c.806_810delCCCTG r.(?) p.(Ala269Glyfs*2) Parent #1 - likely pathogenic g.68196055_68196059del g.67729338_67729342del RDH12 Ala269del - RDH12_000008 no nucleotide written, extrapolated from protein, databases and publications; error in annotation, in paper Ala 269del is described as ""a frameshift mutation leads to a premature stop codon in exon 6"", references point to c.806_810delCCCTG, p.(Ala269Glyfs*2); heterozygous PubMed: Aleman 2018 - - Unknown ? - - - - DNA ? saliva - retinal disease P18 PubMed: Aleman 2018 - F - - German,Irish, Polish - - - - 1 LOVD
+?/. - c.806_810delCCCTG r.(?) p.(Ala269Glyfs*2) Parent #1 - likely pathogenic g.68196055_68196059del g.67729338_67729342del RDH12 Ala269del - RDH12_000008 no nucleotide written, extrapolated from protein, databases and publications; error in annotation, in paper Ala 269del is described as ""a frameshift mutation leads to a premature stop codon in exon 6"", references point to c.806_810delCCCTG, p.(Ala269Glyfs*2); heterozygous PubMed: Aleman 2018 - - Unknown ? - - - - DNA ? saliva - retinal disease P19 PubMed: Aleman 2018 - M - - Irish, Scottish, Welsh - - - - 1 LOVD
+?/. - c.806_810delCCCTG r.(?) p.(Ala269Glyfs*2) Parent #1 - likely pathogenic g.68196055_68196059del g.67729338_67729342del RDH12 Ala269del - RDH12_000008 no nucleotide written, extrapolated from protein, databases and publications; error in annotation, in paper Ala 269del is described as ""a frameshift mutation leads to a premature stop codon in exon 6"", references point to c.806_810delCCCTG, p.(Ala269Glyfs*2); heterozygous PubMed: Aleman 2018 - - Unknown ? - - - - DNA ? saliva - retinal disease P20 PubMed: Aleman 2018 - F - - German, Scottish, Cherokee - - - - 1 LOVD
+?/. - c.806_810delCCCTG r.(?) p.(Ala269Glyfs*2) Parent #1 - likely pathogenic g.68196055_68196059del g.67729338_67729342del RDH12 Ala126Glu - RDH12_000008 no nucleotide written, extrapolated from protein and databases; heterozygous PubMed: Aleman 2018 - - Unknown ? - - - - DNA ? saliva - retinal disease P4 PubMed: Aleman 2018 - M - - German - - - - 1 LOVD
+?/. - c.806_810delCCCTG r.(?) p.(Ala269Glyfs*2) Parent #1 - likely pathogenic g.68196055_68196059del g.67729338_67729342del RDH12 Ala126Glu - RDH12_000008 no nucleotide written, extrapolated from protein and databases; heterozygous PubMed: Aleman 2018 - - Unknown ? - - - - DNA ? saliva - retinal disease P15 PubMed: Aleman 2018 - M - - German,Irish, Scottish - - - - 1 LOVD
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