Unique variants in the RDH5 gene

This database is one of the "Eye disease" gene variant databases.
Information The variants shown are described using the NM_002905.3 transcript reference sequence.

80 entries on 1 page. Showing entries 1 - 80.
Legend   How to query  

Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
-/., -?/. 2 - c.-8440G>A r.(?) p.(=) - benign, likely benign g.56105894G>A g.55712110G>A ITGA7(NM_001144996.1):c.-4428C>T (p.(=)), ITGA7(NM_001144997.1):c.38C>T (p.T13I) - ITGA7_000017, ITGA7_010023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Utrecht
-?/. 1 - c.-8402A>C r.(?) p.(=) - likely benign g.56105932A>C g.55712148A>C ITGA7(NM_001144997.1):c.14-14T>G (p.(=)) - BLOC1S1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+?/. 8 - c.-33+2dup r.(?) p.? - likely pathogenic g.56114303dup g.55720519dup RDH5 c.-33 + 2dup - RDH5_000229 homozygous PubMed: Khan 2020 - - Germline yes - - - - LOVD
+?/. 1 - c.? r.(?) p.? - likely pathogenic (recessive) g.? g.? RDH5 V212(4bp del) - ALX1_000001 1 more item PubMed: Liden 2001 - - In vitro (cloned) ? - - - - LOVD
-?/. 1 - c.31C>T r.(?) p.(Leu11Phe) - likely benign g.56114999C>T g.55721215C>T RDH5(NM_001199771.1):c.31C>T (p.L11F) - RDH5_000204 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.53T>C r.(?) p.(Leu18Pro) - VUS g.56115021T>C - RDH5(NM_001199771.1):c.53T>C (p.L18P) - BLOC1S1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/? 1 2 c.55A>G r.(?) p.(Arg19Gly) - likely pathogenic g.56115023A>G g.55721239A>G - - RDH5_000001 Homozugous missense mutation PubMed: Sergouniotis 2011 - - Germline - - - - - Raheel Qamar
-/. 1 - c.62G>A r.(?) p.(Arg21Gln) - benign g.56115030G>A g.55721246G>A RDH5(NM_001199771.3):c.62G>A (p.R21Q) - RDH5_000205 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/., +?/? 5 2 c.71_74del r.(?) p.(Leu24Profs*36) ACMG likely pathogenic, pathogenic g.56115035_56115038del, g.56115039_56115042del g.55721255_55721258del 242delTGCC, 244delTGCC, 246delTGCC - RDH5_000187, RDH5_000189, RDH5_000191 Homozygous deletion mutation, 1 more item Sharon, submitted, PubMed: Pras 2012, PubMed: Sharon 2019 - - Germline - 1/2420 IRD families - - - Global Variome, with Curator vacancy, Raheel Qamar, Dror Sharon
+?/? 1 2 c.95del r.(?) p.(Phe32Serfs*29) - likely pathogenic g.56115063del g.55721279del 95delT - RDH5_000003 Compound heterozygous mutation PubMed: Schatz 2010 - - Germline - - - - - Raheel Qamar
-?/., ?/. 2 - c.97A>G r.(?) p.(Ile33Val) - likely benign, VUS g.56115065A>G g.55721281A>G RDH5(NM_001199771.3):c.97A>G (p.I33V) - RDH5_000206 conflicting interpretations of pathogenicity; 4 heterozygous, no homozygous; Clinindb (India), 1 more item PubMed: Narang 2020, Journal: Narang 2020 - rs62638195 CLASSIFICATION record, Germline - 4/2795 individuals - - - VKGL-NL_AMC, Mohammed Faruq
+?/? 1 2 c.98T>A r.(?) p.(Ile33Asn) - likely pathogenic g.56115066T>A g.55721282T>A - - RDH5_000005 Compound heterozygous missense mutation PubMed: Ruther 2004 - - Germline - - - - - Raheel Qamar
+?/? 1 2 c.98T>C r.(?) p.(Ile33Thr) - likely pathogenic g.56115066T>C g.55721282T>C - - RDH5_000007 Compound heterozygous missense mutation PubMed: Sergouniotis 2011 - - Germline - - - - - Raheel Qamar
+?/., +?/? 11 2 c.103G>A r.(?) p.(Gly35Ser) - likely pathogenic, likely pathogenic (recessive) g.56115071G>A g.55721287G>A c.211_214dupl, p.A72GfsX15; c.103G>A, p.G35S, nt 103 G to A, RDH5 c.103G>A, p.G35S, RDH5 G35S - RDH5_000009, RDH5_000011, RDH5_000013, RDH5_000015, RDH5_000017, RDH5_000019, RDH5_000021 Compound heterozygous missense mutation, heterozygous, Homozygous missense mutation, 1 more item PubMed: Katagiri 2020, PubMed: Liden 2001, PubMed: Littink-2012, PubMed: Niwa 2005, PubMed: Wada 2001, 2 more items - - Germline, Germline/De novo (untested), In vitro (cloned) ?, yes - - - - Raheel Qamar
+?/? 1 2 c.124C>T r.(?) p.(Arg42Cys) - likely pathogenic g.56115092C>T g.55721308C>T 124C?T - RDH5_000023 Compound heterozygous missense mutation PubMed: Niwa 2005 - - Germline - - - - - Raheel Qamar
+?/? 1 2 c.129del r.(?) p.(Leu44Trpfs*17) - likely pathogenic g.56115097del g.55721313del Arg42ct[1-bpdel] - RDH5_000025 Homozygous frameshift mutation PubMed: Driessen 2001 - - Germline - - - - - Raheel Qamar
+/., +?/? 15 2 c.160C>T r.(?) p.(Arg54*) ACMG likely pathogenic, pathogenic g.56115128C>T g.55721344C>T 343C>T - RDH5_000167, RDH5_000169, RDH5_000171, RDH5_000173, RDH5_000175, RDH5_000177, RDH5_000179, RDH5_000181, 2 more items Homozygous missense mutation Sharon, submitted, PubMed: Pras 2012, PubMed: Sharon 2019 - - Germline - 1/2420 IRD families, 11/2420 IRD families - - - Global Variome, with Curator vacancy, Raheel Qamar, Dror Sharon
+?/? 1 2 c.175T>A r.(?) p.(Cys59Ser) - likely pathogenic g.56115143T>A g.55721359T>A - - RDH5_000165 Compound heterozygous missense mutation PubMed: Wang 2012 - - Germline - - - - - Raheel Qamar
+?/. 1 - c.208C>T r.(?) p.(Arg70Trp) ACMG likely pathogenic g.56115176C>T g.55721392C>T RDH5 c.208C>T, p.(Arg70Trp) - RDH5_000219 single heterozygous variant (recessive) PubMed: Jespersgaar 2019 - - Germline ? - - - - LOVD
+?/., +?/? 2 2 c.211_214dup r.(?) p.(Ala72Glyfs*15) - likely pathogenic g.56115179_56115182dup g.55721395_55721398dup 211_214dupGTGG, c.211_214dupl, p.A72GfsX15; c.103G>A, p.G35S - RDH5_000027 Compound heterozygous frameshift mutation PubMed: Driessen 2001, PubMed: Littink-2012 - - Germline - - - - - Raheel Qamar
+?/., +?/? 2 2 c.218C>T r.(?) p.(Ser73Phe) - likely pathogenic, likely pathogenic (recessive) g.56115186C>T g.55721402C>T RDH5 S73F, Ser73Phe (TCC?TTC) - RDH5_000029 Compound heterozygous missense mutation, 1 more item PubMed: Liden 2001, PubMed: Yamamoto 1999 - - Germline, In vitro (cloned) ? - - - - Raheel Qamar
+/. 1 - c.243_246del r.(?) p.(Asp82Serfs*27) ACMG pathogenic g.56115210_56115213del - c.242_245del - RDH5_000214 - PubMed: Sharon 2019 - - Germline - 1/2420 IRD families - - - Global Variome, with Curator vacancy
+?/. 1 - c.259C>T r.(?) p.(Gln87Ter) - likely pathogenic g.56115227C>T g.55721443C>T RDH5 c.259C>T, p.Q87X - RDH5_000230 homozygous PubMed: Katagiri 2020 - - Germline yes - - - - LOVD
?/. 1 - c.261G>C r.(?) p.(Gln87His) ACMG VUS g.56115229G>C g.55721445G>C RDH5:NM_002905 c.G261C, p.Q87H - RDH5_000221 heterozygous, individual solved, variant non-causal PubMed: Rodriguez-Munoz 2020 - - Germline ? - - - - LOVD
+?/? 1 2 c.285G>A r.(?) p.(Trp95*) - likely pathogenic g.56115253G>A g.55721469G>A Trp95Ter - RDH5_000166 Compound heterozygous nonsense mutation PubMed: Wang 2012 - - Germline - - - - - Raheel Qamar
+?/? 1 2i c.310+1G>A r.spl? p.? - likely pathogenic g.56115279G>A g.55721495G>A 320+1G>A (Splice defect) - RDH5_000031 Compound heterozygous missense mutation PubMed: Sergouniotis 2011 - - Germline - - - - - Raheel Qamar
+?/. 1 - c.313C>A r.(?) p.(Leu105Ile) - likely pathogenic (recessive) g.56115475C>A g.55721691C>A RDH5 L105I - RDH5_000225 1 more item PubMed: Liden 2001 - - In vitro (cloned) ? - - - - LOVD
+?/., +?/? 6 3 c.319G>C r.(?) p.(Gly107Arg) - likely pathogenic g.56115481G>C g.55721697G>C G to C mutation at nt 319, nt 319 G to C, RDH5 c.319G>C, p.G107R - RDH5_000033, RDH5_000035, RDH5_000037, RDH5_000039 Compound heterozygous missense mutation, heterozygous, Homozygous missense mutation PubMed: Hotta 2003, PubMed: Katagiri 2020, PubMed: Nakamura 2000, PubMed: Sato 2004 - - Germline, Germline/De novo (untested) ?, yes - - - - Raheel Qamar
+?/? 1 3 c.346G>C r.(?) p.(Gly116Arg) - likely pathogenic g.56115508G>C g.55721724G>C - - RDH5_000043 Compound heterozygous missense mutation PubMed: Sergouniotis 2011 - - Germline - - - - - Raheel Qamar
+?/? 1 3 c.347_348insCAG r.(?) p.(Gly116_Ile117insSer) - likely pathogenic g.56115509_56115510insCAG g.55721725_55721726insCAG 346_347insGCA - RDH5_000041 Homozygous inframe Mutation PubMed: Sergouniotis 2011 - - Germline - - - - - Raheel Qamar
-?/. 1 - c.366A>G r.(?) p.(Pro122=) - likely benign g.56115528A>G g.55721744A>G RDH5(NM_001199771.1):c.366A>G (p.P122=) - RDH5_000207 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/., +?/., +?/? 10 3 c.382G>A r.(?) p.(Asp128Asn) ACMG likely pathogenic, likely pathogenic (recessive), pathogenic g.56115544G>A g.55721760G>A GAT to AAT at codon 128, RDH5 D128N - RDH5_000045, RDH5_000047, RDH5_000193, RDH5_000195, RDH5_000197 Compound heterozygous missense mutation, Homozygous missense mutation, 1 more item Sharon, submitted, PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024, PubMed: Iannaccone 2007, 4 more items - - Germline, In vitro (cloned) ? 4/2420 IRD families - - - Global Variome, with Curator vacancy, Raheel Qamar, Dror Sharon, Rebekkah Hitti-Malin
+?/? 3 3 c.394G>A r.(?) p.(Val132Met) - likely pathogenic g.56115556G>A g.55721772G>A G to A at nucleotide 394, nt 394 G to A - RDH5_000049, RDH5_000051, RDH5_000053 Compound heterozygous missense mutation PubMed: Nakamura 2000, PubMed: Nakamura 2003, PubMed: Nakamura 2004, PubMed: Niwa 2005 - - Germline - - - - - Raheel Qamar
+/. 2 3 c.412del r.(?) p.(Met138Trpfs*21) ACMG pathogenic (recessive) g.56115574del g.55721790del 412delA - RDH5_000212 - PubMed: Beryozkin 2015, PubMed: Sharon 2019, PubMed: Sharon 2019 - - Germline - 1/2420 IRD families - - - Global Variome, with Curator vacancy, Dror Sharon
+?/? 1 3 c.416G>T r.(?) p.(Gly139Val) - likely pathogenic g.56115578G>T g.55721794G>T 417G>T - RDH5_000055 Compound heterozygous missense mutation PubMed: Sergouniotis 2011 - - Germline - - - - - Raheel Qamar
-/. 1 3 c.423C>A r.(=) p.(=) - benign g.56115585C>A - (Ile141Ile, ATC?ATA, 423C?A) - RDH5_000220 - PubMed: Fishman-2004 - - Germline - - - - - LOVD
-/. 1 - c.423C>T r.(?) p.(Ile141=) - benign g.56115585C>T g.55721801C>T - - RDH5_000211 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.464G>A r.(?) p.(Arg155Gln) - VUS g.56115626G>A g.55721842G>A RDH5(NM_001199771.1):c.464G>A (p.R155Q) - RDH5_000208 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/., +?/., +?/? 6 3 c.469C>T r.(?) p.(Arg157Trp) - likely pathogenic, likely pathogenic (recessive), pathogenic (recessive) g.56115631C>T g.55721847C>T RDH5 Arg157Trp, RDH5 c.469C>T, p.Arg157Trp, RDH5 R157W - RDH5_000006 Compound heterozygous missense mutation, homozygous, 2 more items PubMed: Birtel 2018, PubMed: Cideciyan 2000, PubMed: Gliem 2020, PubMed: Liden 2001, 1 more item - - Germline, In vitro (cloned), Unknown ?, yes - - - - Raheel Qamar
+/., +?/? 3 3 c.470G>A r.(?) p.(Arg157Gln) ACMG likely pathogenic, pathogenic g.56115632G>A g.55721848G>A - - RDH5_000057, RDH5_000059 Compound heterozygous missense mutation, Homozygous missense mutation, 1 more item PubMed: Hajali 2009, PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024, PubMed: Sergouniotis 2011 - - Germline - - - - - Johan den Dunnen, Raheel Qamar
+?/? 1 3 c.490G>T r.(?) p.(Val164Phe) - likely pathogenic g.56115652G>T g.55721868G>T G490T - RDH5_000061 Homozygous missense mutation PubMed: Yamamoto 2003 - - Germline - - - - - Raheel Qamar
+?/. 10 - c.500G>A r.(?) p.(Arg167His) - likely pathogenic, likely pathogenic (recessive) g.56115662G>A g.55721878G>A RDH5 Arg167His (CAC to CGC), RDH5 c.500G>A p.(Arg167His), RDH5 c.500G>A p.Arg167His, 2 more items - RDH5_000226 heterozygous, no nucleotide annotation, extrapolated from protein and databases; heterozygous PubMed: Katagiri 2020, PubMed: Liu 2015, PubMed: Sekiya 2003, PubMed: Yang 2017 - - Germline yes - - - - LOVD
+?/. 1 - c.524A>T r.(?) p.(Tyr175Phe) - likely pathogenic (recessive) g.56115686A>T - RDH5 c.524A>T (p.Tyr175Phe) - RDH5_000224 homozygous PubMed: Skorczyk-Werner 2015 - - Germline yes - - - - LOVD
-/., -?/. 2 - c.525C>T r.(?) p.(Tyr175=) - benign, likely benign g.56115687C>T g.55721903C>T RDH5(NM_001199771.1):c.525C>T (p.Y175=), RDH5(NM_001199771.3):c.525C>T (p.Y175=) - BLOC1S1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_AMC
+?/? 2 3 c.530T>G r.(?) p.(Val177Gly) - likely pathogenic g.56115692T>G g.55721908T>G 530T>G, GTC?GGC - RDH5_000063, RDH5_000065 Compound heterozygous missense mutation PubMed: Hayashi 2006, PubMed: Kuroiwa 2000 - - Germline - - - - - Raheel Qamar
+/., +?/., ?/. 4 3 c.536A>G r.(?) p.(Lys179Arg) - likely pathogenic, pathogenic, VUS g.56115698A>G g.55721914A>G c.536A>G - RDH5_000203 - PubMed: Ellingford 2016, PubMed: Li 2017, PubMed: Maranhao 2014 - - Germline yes 0/95 unrelated Pakistani controls - - - James Hejtmancik
?/. 1 - c.545T>C r.(?) p.(Leu182Pro) - VUS g.56115707T>C - RDH5(NM_002905.5):c.545T>C (p.L182P) - BLOC1S1_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/. 2 3 c.547G>T r.(?) p.(Glu183*) ACMG pathogenic g.56115709G>T g.55721925G>T - - RDH5_000213 - Sharon, submitted, PubMed: Sharon 2019 - - Germline - 1/2420 IRD families - - - Global Variome, with Curator vacancy, Dror Sharon
-/. 1 - c.570-18G>A r.(=) p.(=) - benign g.56117652G>A g.55723868G>A RDH5(NM_001199771.3):c.570-18G>A - BLOC1S1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 1 - c.570-8G>C r.(=) p.(=) - benign g.56117662G>C - RDH5(NM_002905.5):c.570-8G>C - BLOC1S1_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/., +?/., +?/?, ?/. 6 4 c.572G>A r.(?) p.(Arg191Gln) ACMG likely pathogenic, pathogenic, VUS g.56117672G>A g.55723888G>A 755G>A, RDH5 Ex.4 c.712G>T p.(Gly238Trp), Ex.4 c.572G>A p.(Arg191Gln), 2 more items - RDH5_000199 compound heterozygous, heterozygous, individual solved, variant non-causal, solved, homozygous, 1 more item PubMed: Martin Merida 2019, PubMed: Pras 2012, PubMed: Rodriguez-Munoz 2020, PubMed: Sharon 2019, 1 more item - - Germline, Unknown ?, yes 1/2420 IRD families - - - Global Variome, with Curator vacancy, Raheel Qamar
-?/. 1 - c.600C>A r.(?) p.(Val200=) - likely benign g.56117700C>A g.55723916C>A RDH5(NM_001199771.1):c.600C>A (p.V200=) - RDH5_000209 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/., +?/. 3 4 c.602C>T r.(?) p.(Ser201Phe) - likely pathogenic (recessive), pathogenic g.56117702C>T g.55723918C>T c.602C>T, RDH5 c.602C > T (p.Ser201P - RDH5_000218 homozygous PubMed: Eisenberger-2013, PubMed: Sultan 2018 - - Germline yes 0/200 ethnically-matched control samples - - - LOVD
+/., +?/., +?/? 4 4 c.625C>T r.(?) p.(Arg209*), p.(Arg209Ter) ACMG likely pathogenic, pathogenic g.56117725C>T g.55723941C>T c.625C>T(p.Arg209*), RDH5:NM_002905 c.C625T, p.R209X - RDH5_000067 Homozygous missense mutation, homozygous, individual solved, variant causal PubMed: Chen-2013, PubMed: Martin-Merida 2018, PubMed: Rodriguez-Munoz 2020, PubMed: Schatz 2010 - - Germline ?, yes 1/258 - - - Raheel Qamar
+?/? 1 4 c.689_690delinsGG r.(?) p.(Pro230Arg) - likely pathogenic g.56117789_56117790delinsGG g.55724005_55724006delinsGG 689_ 690CT>GG - RDH5_000069 Compound heterozygous missense mutation / Technique: restriction endonuclease analysis PubMed: Wang 2008 - - Germline - - MnlI- - - Raheel Qamar
+?/? 1 4 c.710A>C r.(?) p.(Tyr237Ser) - likely pathogenic g.56117810A>C g.55724026A>C - - RDH5_000044 Compound heterozygous missense mutation PubMed: Sergouniotis 2011 - - Germline - - - - - Raheel Qamar
+?/. 1 4 c.710A>G r.(?) p.(Tyr237Cys) - likely pathogenic (recessive) g.56117810A>G - c.710A>G - RDH5_000223 - PubMed: Liu-2020 - - Germline - - - - - LOVD
+/., +?/., +?/? 17 4 c.712G>T r.(?) p.(Gly238Trp) ACMG likely pathogenic, likely pathogenic (recessive), pathogenic g.56117812G>T g.55724028G>T GGG?TGG, GGG to TGG at codon 238, Gly238Trp (GGG?TGG), RDH5 c.712G>T, RDH5 G238W, 3 more items - RDH5_000004, RDH5_000008, RDH5_000030, RDH5_000032, RDH5_000048, RDH5_000060, RDH5_000071, RDH5_000073, 3 more items compound heterozygous, Compound heterozygous missense mutation, Homozygous missense mutation, 5 more items PubMed: Gonzalez-Fernandez 1999, PubMed: Hajali 2009, PubMed: Iannaccone 2007, PubMed: Liden 2001, 7 more items - - CLASSIFICATION record, Germline, In vitro (cloned), Unknown ?, yes 4/2420 IRD families - - - Global Variome, with Curator vacancy, Raheel Qamar, VKGL-NL_Rotterdam
+?/. 1 4 c.713G>C r.(?) p.(Gly238Ala) ACMG likely pathogenic (recessive) g.56117813G>C g.55724029G>C g.3663G>C - RDH5_000231 not found in 200 control chromosome - - - Germline yes - - - - Srilekha Sundar
+?/. 1 - c.718del r.(?) p.(Ala240Profs*7) - likely pathogenic (recessive) g.56117818del g.55724034del RDH5 c.718delG (p.A240Pfs*7) - RDH5_000227 homozygous PubMed: Makiyama 2014 - - Germline yes - - - - LOVD
+/., +?/., +?/? 4 4 c.718dup r.(?) p.(Ala240Glyfs*19) ACMG likely pathogenic, likely pathogenic (recessive), pathogenic g.56117818dup g.55724034dup 719 G insertion, RDH5 c.719ins G (p.Ala240Glyfs17) - RDH5_000081, RDH5_000083 error in annotation: this variant is actually c.718dup; heterozygous, Homozygous frameshift mutation PubMed: Nakamura 2000, PubMed: Niwa 2005, PubMed: Sharon 2019, PubMed: Yang 2017 - - Germline yes 1/2420 IRD families - - - Global Variome, with Curator vacancy, Raheel Qamar
-?/. 1 - c.752G>A r.(?) p.(Arg251His) - likely benign g.56118124G>A g.55724340G>A RDH5(NM_001199771.1):c.752G>A (p.R251H) - RDH5_000210 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/., +?/., +?/? 12 5 c.758T>G r.(?) p.(Met253Arg) - likely pathogenic, likely pathogenic (recessive), pathogenic g.56118130T>G g.55724346T>G RDH5 c.758T>G (p.Met253Arg) - RDH5_000085, RDH5_000087, RDH5_000089, RDH5_000091, RDH5_000093 homozygous, Homozygous missense mutation PubMed: Ajmal 2012, PubMed: Ajmal 2012, PubMed: Li 2017 - - Germline yes - - - - Raheel Qamar, James Hejtmancik
+?/. 1 5 c.776C>T r.(?) p.(Pro259Leu) - likely pathogenic g.56118148C>T g.55724364C>T - - RDH5_000217 - PubMed: Martin-Merida 2018 - - Germline ? 1/258 - - - LOVD
+?/., +?/? 4 5 c.791T>G r.(?) p.(Val264Gly) - likely pathogenic, likely pathogenic (recessive) g.56118163T>G g.55724379T>G GTG?GGG, RDH5 V264G - RDH5_000095, RDH5_000097, RDH5_000099 Homozygous missense mutation, 1 more item PubMed: Hirose 2000, PubMed: Liden 2001 - - Germline, In vitro (cloned) ? - - - - Raheel Qamar
?/. 1 - c.797G>A r.(?) p.(Arg266Gln) ACMG VUS g.56118169G>A g.55724385G>A - - RDH5_000215 ACMG PM2, PP4, BP4 PubMed: Zenteno 2020 - - Germline - 1/143 cases - - - Johan den Dunnen
+?/? 1 5 c.801C>G r.(?) p.(Cys267Trp) - likely pathogenic g.56118173C>G g.55724389C>G - - RDH5_000028 Compound heterozygous missense mutation PubMed: Driessen 2001 - - Germline - - - - - Raheel Qamar
+?/? 1 5 c.824_825del r.(?) p.(Arg275Profs*60) - likely pathogenic g.56118196_56118197del g.55724412_55724413del 824_825delGA - RDH5_000101 Homozygous frameshift mutation PubMed: Sergouniotis 2011 - - Germline - - - - - Raheel Qamar
+?/. 1 - c.832C>T r.(?) p.(Arg278*) - likely pathogenic (recessive) g.56118204C>T g.55724420C>T RDH5 c.832C>T p.Arg278Ter - RDH5_000228 heterozygous PubMed: Liu 2015 - - Germline yes - - - - LOVD
+?/? 1 5 c.833G>A r.(?) p.(Arg278Gln) - likely pathogenic g.56118205G>A g.55724421G>A 1016G>A - RDH5_000201 Homozygous missense mutation PubMed: Pras 2012 - - Germline - - - - - Raheel Qamar
+/., +/?, +?/., +?/? 18 5 c.839G>A r.(?) p.(Arg280His) ACMG likely pathogenic, likely pathogenic (recessive), pathogenic, pathogenic (recessive), VUS g.56118211G>A g.55724427G>A 839 G?A, c.839G>A, CGC?CAC, G to A at nucleotide 539, nt 839 G to A, RDH5 R280H, 2 more items - RDH5_000001, RDH5_000202 Compound heterozygous missense mutation, heterozygous, individual solved, variant non-causal, 3 more items PubMed: Consugar 2015, PubMed: Gonzalez-Fernandez 1999, PubMed: Kuroiwa 2000, PubMed: Liden 2001, 8 more items - - Germline, Germline/De novo (untested), In vitro (cloned), Unknown ? 1/143 cases - - - Johan den Dunnen, Feng Wang, Raheel Qamar
+?/? 3 5 c.841T>C r.(?) p.(Tyr281His) - likely pathogenic g.56118213T>C g.55724429T>C 841T?C, T to C at nt 841 - RDH5_000082, RDH5_000084, RDH5_000115 Compound heterozygous missense mutation, Homozygous missense mutation PubMed: Nakamura 2000, PubMed: Nakamura 2002, PubMed: Niwa 2005 - - Germline, Unknown - - - - - Raheel Qamar
?/. 1 - c.848C>G r.(?) p.(Pro283Arg) ACMG VUS g.56118220C>G g.55724436C>G - - RDH5_000216 ACMG PM2, PP3, PP4 PubMed: Zenteno 2020 - - Germline - 1/143 cases - - - Johan den Dunnen
+/?, +?/., +?/? 5 5 c.880G>C r.(?) p.(Ala294Pro) ACMG likely pathogenic, likely pathogenic (recessive), pathogenic g.56118252G>C g.55724468G>C 881G>C, GCC?CCC, RDH5 A294P - RDH5_000104, RDH5_000106, RDH5_000119 Compound heterozygous missense mutation, Homozygous missense mutation, 1 more item PubMed: Gonzalez-Fernandez 1999, PubMed: Liden 2001, PubMed: Schatz 2010, PubMed: Sharon 2019 - - Germline, In vitro (cloned) ? 1/2420 IRD families - - - Global Variome, with Curator vacancy, Raheel Qamar
+?/. 1 - c.890T>C r.(?) p.(Leu297Pro) - likely pathogenic g.56118262T>C g.55724478T>C RDH5 c.890T>C, p.Leu297Pro - RDH5_000222 heterozygous PubMed: Liu 2020 - rs745993927 Germline/De novo (untested) ? 1/64 - - - LOVD
+?/? 2 5 c.913_917del r.(?) p.(Val305Hisfs*29) - likely pathogenic g.56118285_56118289del g.55724501_55724505del 913_917del GTGCT - RDH5_000121, RDH5_000123 5 bp deletion segregating in the family PubMed: Ajmal 2012 - - Germline - - - - - Raheel Qamar
+?/. 2 - c.913_917delGTGCT r.(?) p.(Val305Hisfs*29) - likely pathogenic (recessive) g.56118285_56118289del g.55724501_55724505del RDH5 c.913_917delGTGCT (p.Val305Hisfs*29) - RDH5_000121 homozygous PubMed: Ajmal 2012 - - Germline yes - - - - LOVD
+?/., +?/? 73 5 c.928delinsGAAG r.(?) p.(Leu310delinsGluVal) - likely pathogenic, likely pathogenic (recessive) g.56118300delinsGAAG g.55724516delinsGAAG 1085delC/insGAAG, 928 C to GAAG, 928 C?GAAG, 928C?GAAG, 928delCinsGAAG, c.928delCinsGAAG, RDH5 L310EV, 7 more items - RDH5_000018, RDH5_000020, RDH5_000022, RDH5_000024, RDH5_000040, RDH5_000066, RDH5_000070, RDH5_000108, 25 more items Compound heterozygous deletion/insertion mutation, Compound heterozygous missense mutation, homozygous, 5 more items PubMed: Hayashi 2006, PubMed: Hirose 2000, PubMed: Huang 2018, PubMed: Katagiri 2020, PubMed: Liu 2015, 13 more items - - Germline, Germline/De novo (untested), In vitro (cloned), Unknown ?, yes - MnlI- - - Johan den Dunnen, Raheel Qamar
?/. 1 - c.950T>C r.(?) p.(Val317Ala) - VUS g.56118322T>C - RDH5(NM_001199771.1):c.950T>C (p.V317A) - BLOC1S1_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/? 1 5 c.955T>C r.(?) p.(*319Argext*32) - likely pathogenic g.56118327T>C g.55724543T>C 956T>C - RDH5_000056 Compound heterozygous non-stop mutation PubMed: Sergouniotis 2011 - - Germline - - - - - Raheel Qamar
Legend   How to query  


Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.