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.

69 entries on 1 page. Showing entries 1 - 69.
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AscendingDNA change (cDNA)     

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DNA change (hg38)     

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+/. - c.295C>A r.(?) p.(Leu99Ile) Unknown - pathogenic g.68191923C>A g.67725206C>A - - RDH12_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 3 c.295C>A r.(?) p.(Leu99Ile) Both (homozygous) - likely pathogenic (recessive) g.68191923C>A g.67725206C>A - - RDH12_000030 - PubMed: Sharon 2015, PubMed: Beryozkin 2015, PubMed: Sharon 2019 - - Germline - - - - - DNA SEQ - - retinal disease MOL0279 PubMed: Sharon 2015, PubMed: Beryozkin 2015, PubMed: Sharon 2019 family F no Israel Turkey;Jewish - - - - 2 Dror Sharon
+?/. 3 c.295C>A r.(?) p.(Leu99Ile) Unknown - likely pathogenic (recessive) g.68191923C>A g.67725206C>A - - RDH12_000030 - PubMed: Sharon 2019 - - Germline - - - - - DNA SEQ - - LCA MOL0966 PubMed: Sharon 2019 family M no Israel Jewish - - - - 1 Dror Sharon
+/. - c.295C>A r.(?) p.(Leu99Ile) Both (homozygous) - pathogenic g.68191923C>A g.67725206C>A - - RDH12_000030 - - - - Germline - - - - - DNA SEQ-NG-I Peripheral blood - retinal disease - - - M - - - - - - - 1 Marta de Castro-Miró
+/. - c.295C>A r.(?) p.(Leu99Ile) Both (homozygous) ACMG pathogenic (recessive) g.68191923C>A - - - RDH12_000030 - PubMed: Sharon 2015, PubMed: Beryozkin 2015, PubMed: Sharon 2019 - - Germline - 11/2420 IRD families - - - DNA SEQ - - retinal disease MOL0589 PubMed: Sharon 2019 family - - Israel Morocco;Jewish - - - - 1 Global Variome, with Curator vacancy
+/. - c.295C>A r.(?) p.(Leu99Ile) Parent #1 - pathogenic g.68191923C>A g.67725206C>A - - RDH12_000030 - PubMed: Zenteno 2020 - - Germline - 1/143 cases - - - DNA SEQ, SEQ-NG - 199 gene panel retinal disease 872 PubMed: Zenteno 2020 family - - Mexico - - - - - 1 Johan den Dunnen
+/. - c.295C>A r.(?) p.(Leu99Ile) Both (homozygous) - pathogenic g.68191923C>A g.67725206C>A - - RDH12_000030 - PubMed: Zenteno 2020 - - Germline - 1/143 cases - - - DNA SEQ, SEQ-NG - 199 gene panel retinal disease 2884 PubMed: Zenteno 2020 family - - Mexico - - - - - 1 Johan den Dunnen
+/. - c.295C>A r.(?) p.(Leu99Ile) Both (homozygous) - pathogenic g.68191923C>A g.67725206C>A - - RDH12_000030 - PubMed: Zenteno 2020 - - Germline - 1/143 cases - - - DNA SEQ, SEQ-NG - 199 gene panel retinal disease 3343 PubMed: Zenteno 2020 single patient - - Mexico - - - - - 1 Johan den Dunnen
+/. - c.295C>A r.(?) p.(Leu99Ile) Parent #1 - pathogenic g.68191923C>A g.67725206C>A - - RDH12_000030 - PubMed: Zenteno 2020 - - Germline - 1/143 cases - - - DNA SEQ, SEQ-NG - 199 gene panel retinal disease 3647 PubMed: Zenteno 2020 single patient - - Mexico - - - - - 1 Johan den Dunnen
+/. - c.295C>A r.(?) p.(Leu99Ile) Paternal (confirmed) ACMG pathogenic (recessive) g.68191923C>A g.67725206C>A c.C295A - RDH12_000030 - PubMed: Zhang 2016 - - Germline - - - - - DNA SEQ-NG - 226-gene panel retinal disease BLM012 PubMed: Zhang 2016 family F - United States Hispanic - - - - 1 LOVD
+/. - c.295C>A r.(?) p.(Leu99Ile) Parent #1 - pathogenic g.68191923C>A g.67725206C>A - - RDH12_000030 - PubMed: Bravo-Gil 2016 - - Germline - - - - - DNA SEQ-NG - 64-gene panel retinal disease 277 PubMed: Bravo-Gil 2016 see paper - - Spain - - - - - 1 LOVD
+/. - c.295C>A r.(?) p.(Leu99Ile) Both (homozygous) - pathogenic g.68191923C>A g.67725206C>A - - RDH12_000030 - PubMed: Ge 2015 - - Germline - - - - - DNA SEQ-NG - 195-gene panel retinal disease 3WP+3.68 PubMed: Ge 2015 3-generation family, affected grandfather/granddaughter (F, M) F;M - United States - - - - - 2 LOVD
+/. - c.295C>A r.(?) p.(Leu99Ile) Both (homozygous) - pathogenic g.68191923C>A g.67725206C>A - - RDH12_000030 - PubMed: Ge 2015 - - Germline - - - - - DNA SEQ-NG - 195-gene panel retinal disease 3JY+V.17 PubMed: Ge 2015 family - - United States - - - - - 1 LOVD
+/. - c.295C>A r.(?) p.(Leu99Ile) Both (homozygous) ACMG pathogenic (recessive) g.68191923C>A - - - RDH12_000030 - PubMed: Sharon 2015, PubMed: Beryozkin 2015, PubMed: Sharon 2019 - - Germline - 11/2420 IRD families - - - DNA SEQ - - retinal disease MOL1042 PubMed: Sharon 2019 family - - Israel Morocco;Jewish - - - - 1 Global Variome, with Curator vacancy
+/. - c.295C>A r.(?) p.(Leu99Ile) Unknown - pathogenic (recessive) g.68191923C>A - - - RDH12_000030 - PubMed: Sharon 2019 - - Germline - 11/2420 IRD families - - - DNA SEQ - - retinal disease - PubMed: Sharon 2019 family - - Israel - - - - - 1 Global Variome, with Curator vacancy
+/. - c.295C>A r.(?) p.(Leu99Ile) Unknown - pathogenic (recessive) g.68191923C>A - - - RDH12_000030 - PubMed: Sharon 2019 - - Germline - 11/2420 IRD families - - - DNA SEQ - - retinal disease - PubMed: Sharon 2019 family - - Israel - - - - - 1 Global Variome, with Curator vacancy
+/. - c.295C>A r.(?) p.(Leu99Ile) Unknown - pathogenic (recessive) g.68191923C>A - - - RDH12_000030 - PubMed: Sharon 2019 - - Germline - 11/2420 IRD families - - - DNA SEQ - - retinal disease - PubMed: Sharon 2019 family - - Israel - - - - - 1 Global Variome, with Curator vacancy
+/. - c.295C>A r.(?) p.(Leu99Ile) Unknown - pathogenic (recessive) g.68191923C>A - - - RDH12_000030 - PubMed: Sharon 2019 - - Germline - 11/2420 IRD families - - - DNA SEQ - - retinal disease - PubMed: Sharon 2019 family - - Israel - - - - - 1 Global Variome, with Curator vacancy
+/. - c.295C>A r.(?) p.(Leu99Ile) Unknown - pathogenic (recessive) g.68191923C>A - - - RDH12_000030 - PubMed: Sharon 2019 - - Germline - 11/2420 IRD families - - - DNA SEQ - - retinal disease - PubMed: Sharon 2019 family - - Israel - - - - - 1 Global Variome, with Curator vacancy
+/. - c.295C>A r.(?) p.(Leu99Ile) Unknown - pathogenic (recessive) g.68191923C>A - - - RDH12_000030 - PubMed: Sharon 2019 - - Germline - 11/2420 IRD families - - - DNA SEQ - - retinal disease - PubMed: Sharon 2019 family - - Israel - - - - - 1 Global Variome, with Curator vacancy
+/. - c.295C>A r.(?) p.(Leu99Ile) Unknown - pathogenic (recessive) g.68191923C>A - - - RDH12_000030 - PubMed: Sharon 2019 - - Germline - 11/2420 IRD families - - - DNA SEQ - - retinal disease - PubMed: Sharon 2019 family - - Israel - - - - - 1 Global Variome, with Curator vacancy
+?/+? 5 c.295C>A r.(?) p.(Leu99Ile) Unknown - likely pathogenic (recessive) g.68191923C>A - L99I - RDH12_000030 - PubMed: Jacobson 2007 - - Germline - - - - - DNA SEQ - - retinal disease - PubMed: Jacobson 2007 - - - - - - - - - 1 Julia Lopez
+/. 5 c.295C>A r.(?) p.(Leu99Ile) Both (homozygous) - pathogenic g.68191923C>A - c.295C>A - RDH12_000030 - PubMed: Avila Fernandez 2010 - - Germline - - - - - DNA PE blood - retinal disease - PubMed: Avila Fernandez 2010 - - - - Spanish - - - - 1 LOVD
+?/. 5 c.295C>A r.(?) p.(Leu99Ile) Both (homozygous) - likely pathogenic g.68191923C>A g.67725206C>A RDH12 Ex.5 c.295C>A p.(Leu99Ile), Ex.5 c.295C>A p.(Leu99Ile) - RDH12_000030 homozygous PubMed: Martin Merida 2019 - - Germline yes - - - - DNA arraySNP, SEQ - - retinal disease RP-0447 PubMed: Martin Merida 2019 - ? - Spain - - - - - 1 LOVD
+?/. 5 c.295C>A r.(?) p.(Leu99Ile) Unknown - likely pathogenic g.68191923C>A g.67725206C>A RDH12 Ex.5 c.295C>A p.(Leu99Ile), Ex.7 c.617C>T p.(Ala206Val) - RDH12_000030 compound heterozygous PubMed: Martin Merida 2019 - - Germline yes - - - - DNA arraySNP - - retinal disease RP-0613 PubMed: Martin Merida 2019 - ? - Spain - - - - - 1 LOVD
+?/. 5 c.295C>A r.(?) p.(Leu99Ile) Unknown - likely pathogenic g.68191923C>A g.67725206C>A RDH12 Ex.5 c.295C>A p.(Leu99Ile), Ex.5 c.295C>A p.(Leu99Ile), AIPL1 : Ex.2 c.112del p.(Arg38Alafs*3) - RDH12_000030 homozygous PubMed: Martin Merida 2019 - - Germline yes - - - - DNA SEQ-NG-I - - retinal disease RP-0995 PubMed: Martin Merida 2019 - ? - Spain - - - - - 1 LOVD
+?/. 5 c.295C>A r.(?) p.(Leu99Ile) Unknown - likely pathogenic g.68191923C>A g.67725206C>A RDH12 Ex.5 c.278T>C p.(Leu93Pro), Ex.5 c.295C>A p.(Leu99Ile) - RDH12_000030 compound heterozygous PubMed: Martin Merida 2019 - - Germline/De novo (untested) ? - - - - DNA arraySNP - - retinal disease RP-1339 PubMed: Martin Merida 2019 - ? - Spain - - - - - 1 LOVD
+?/. 5 c.295C>A r.(?) p.(Leu99Ile) Both (homozygous) - likely pathogenic g.68191923C>A g.67725206C>A RDH12 Ex.5 c.295C>A p.(Leu99Ile), Ex.5 c.295C>A p.(Leu99Ile) - RDH12_000030 homozygous PubMed: Martin Merida 2019 - - Germline/De novo (untested) ? - - - - DNA arraySNP - - retinal disease RP-1789 PubMed: Martin Merida 2019 - ? - Spain - - - - - 1 LOVD
+?/. 5 c.295C>A r.(?) p.(Leu99Ile) Unknown - likely pathogenic g.68191923C>A g.67725206C>A RDH12 Ex.5 c.295C>A p.(Leu99Ile), Ex.8 c.689C>G p.(Pro230Arg) - RDH12_000030 compound heterozygous PubMed: Martin Merida 2019 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG-I - - retinal disease RP-2308 PubMed: Martin Merida 2019 - ? - Spain - - - - - 1 LOVD
+?/. - c.295C>A r.(?) p.(Leu99Ile) Unknown - likely pathogenic g.68191923C>A g.67725206C>A RDH12 (NM_152443; OMIM: 608830): c.164C>T; p.Thr55Met (het) c.295C>A; p.Leu99Ile (het) (RP), OTX2 (NM_021728.3; OMIM: 600037): duplica tion Arr[hg19]14q22.3 (57269186_57925544)dup (het) (hemifacial microsomia) - RDH12_000030 heterozygous PubMed: Ehrenberg 2019 - - Germline yes - - - - DNA arraySNP, SEQ blood - ? Family 2 patient 1 PubMed: Ehrenberg 2019 - F no Israel - - - - - 1 LOVD
+?/. - c.295C>A r.(?) p.(Leu99Ile) Unknown ACMG likely pathogenic g.68191923C>A g.67725206C>A c.295C>A; p.(Leu99Ile) - RDH12_000030 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.295C>A r.(?) p.(Leu99Ile) Unknown ACMG likely pathogenic g.68191923C>A g.67725206C>A RDH12:NM_152443 c.C295A, p.L99I - RDH12_000030 homozygous, 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.295C>A r.(?) p.(Leu99Ile) Both (homozygous) - likely pathogenic g.68191923C>A g.67725206C>A RDH12 c.295C>A; c.295C>A - RDH12_000030 no protein change given, homozygous PubMed: Zanolli 2020 - - Unknown ? - - - - DNA SEQ-NG blood targeted sequencing retinal disease 50 PubMed: Zanolli 2020 individual ID not present in paper, consecutive numbers given ? - Chile - - - - - 1 LOVD
+?/. - c.295C>A r.(?) p.(Leu99Ile) Parent #1 - likely pathogenic g.68191923C>A g.67725206C>A RDH12 c.295C>A; c.716G>T - RDH12_000030 no protein change given, compound heterozygous PubMed: Zanolli 2020 - - Unknown ? - - - - DNA SEQ-NG blood targeted sequencing retinal disease 51 PubMed: Zanolli 2020 individual ID not present in paper, consecutive numbers given ? - Chile - - - - - 1 LOVD
?/. - c.295C>A r.(?) p.(Leu99Ile) Unknown ACMG VUS g.68191923C>A g.67725206C>A RDH12 c.295C>A; p.Leu99IIe - RDH12_000030 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 122 PubMed: Sallum 2020 - ? - Brazil - - - - - 1 LOVD
+/. - c.295C>A r.(?) p.(Leu99Ile) Both (homozygous) ACMG pathogenic g.68191923C>A g.67725206C>A RDH12, gene that can display both dominant and recessive patterns of inheritance, c.295C>A, p.Leu99Ile, homozygous - RDH12_000030 - PubMed: Perea-Romero 2021 - - Germline yes - - - - DNA ? - clinical exome sequencing retinal disease RP-1702 PubMed: Perea-Romero 2021 - - - Spain - - - - - 1 LOVD
+?/. 3 c.295C>A r.(?) p.(Leu99Ile) Maternal (confirmed) - likely pathogenic g.68191923C>A g.67725206C>A RDH12 c.295C>A, p.Leu99Ile - RDH12_000030 heterozygous PubMed: Perrault 2004 - - Germline yes - - - - DNA DHPLC, SEQ blood - retinal disease family 2, individual II-2 PubMed: Perrault 2004 family 2, individual II-2 (proband) M no France - - - - - 1 LOVD
+?/. 3 c.295C>A r.(?) p.(Leu99Ile) Maternal (confirmed) - likely pathogenic g.68191923C>A g.67725206C>A RDH12 c.295C>A, p.Leu99Ile - RDH12_000030 heterozygous PubMed: Perrault 2004 - - Germline yes - - - - DNA DHPLC, SEQ blood - retinal disease family 2, individual II-3 PubMed: Perrault 2004 family 2, individual II-3 (proband's brother) M no France - - - - - 1 LOVD
+?/. 3 c.295C>A r.(?) p.(Leu99Ile) Both (homozygous) - likely pathogenic g.68191923C>A g.67725206C>A RDH12 c.295C>A, p.L99I - RDH12_000030 reduced ability to convert all-trans retinal to all-trans retinol in the presence of NADPH , homozygous PubMed: Thompson 2005 - - Germline yes - - - - DNA DHPLC, SEQ blood - retinal disease 2 PubMed: Thompson 2005 - ? - - - - - - - 1 LOVD
+?/. 3 c.295C>A r.(?) p.(Leu99Ile) Both (homozygous) - likely pathogenic g.68191923C>A g.67725206C>A RDH12 c.295C>A, p.L99I - RDH12_000030 reduced ability to convert all-trans retinal to all-trans retinol in the presence of NADPH , homozygous PubMed: Thompson 2005 - - Germline yes - - - - DNA DHPLC, SEQ blood - retinal disease 16 PubMed: Thompson 2005 - ? - - - - - - - 1 LOVD
+?/. 3 c.295C>A r.(?) p.(Leu99Ile) Maternal (confirmed) - likely pathogenic g.68191923C>A g.67725206C>A RDH12 c.295C>A, p.L99I - RDH12_000030 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
+?/. 3 c.295C>A r.(?) p.(Leu99Ile) Both (homozygous) - likely pathogenic g.68191923C>A g.67725206C>A RDH12 c.295C>A, p.L99I - RDH12_000030 reduced ability to convert all-trans retinal to all-trans retinol in the presence of NADPH , homozygous PubMed: Thompson 2005 - - Germline yes - - - - DNA DHPLC, SEQ blood - retinal disease 203 PubMed: Thompson 2005 - ? - - - - - - - 1 LOVD
+?/. 3 c.295C>A r.(?) p.(Leu99Ile) Both (homozygous) - likely pathogenic g.68191923C>A g.67725206C>A RDH12 c.295C>A, p.L99I - RDH12_000030 homozygous PubMed: Thompson 2005 - - Germline yes - - - - DNA DHPLC, SEQ blood - retinal disease 447 PubMed: Thompson 2005 - ? - - - - - - - 1 LOVD
+?/. 3 c.295C>A r.(?) p.(Leu99Ile) Paternal (confirmed) - likely pathogenic g.68191923C>A g.67725206C>A RDH12 c.295C>A, p.L99I - RDH12_000030 heterozygous PubMed: Thompson 2005 - - Germline yes - - - - DNA DHPLC, SEQ blood - retinal disease 237 PubMed: Thompson 2005 - ? - - - - - - - 1 LOVD
+?/. 3 c.295C>A r.(?) p.(Leu99Ile) Maternal (confirmed) - likely pathogenic g.68191923C>A g.67725206C>A RDH12 c.295C>A, p.L99I - RDH12_000030 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 3069 PubMed: Thompson 2005 - ? - - - - - - - 1 LOVD
+?/. - c.295C>A r.(?) p.(Leu99Ile) Both (homozygous) - likely pathogenic (dominant) g.68191923C>A g.67725206C>A RDH12 L99I - RDH12_000030 homozygous PubMed: Valverde 2009 - - Unknown ? - - - - DNA arraySNP, SEQ blood - retinal disease S203 PubMed: Valverde 2009 - - - Spain - - - - - 1 LOVD
+?/. - c.295C>A r.(?) p.(Leu99Ile) Both (homozygous) - likely pathogenic (dominant) g.68191923C>A g.67725206C>A RDH12 L99I - RDH12_000030 homozygous PubMed: Valverde 2009 - - Unknown ? - - - - DNA arraySNP, SEQ blood - retinal disease M447 PubMed: Valverde 2009 - - - Spain - - - - - 1 LOVD
+?/. - c.295C>A r.(?) p.(Leu99Ile) Both (homozygous) - likely pathogenic (dominant) g.68191923C>A g.67725206C>A RDH12 L99I - RDH12_000030 homozygous PubMed: Valverde 2009 - - Unknown ? - - - - DNA arraySNP, SEQ blood - retinal disease B16 PubMed: Valverde 2009 - - - Spain - - - - - 1 LOVD
+?/. - c.295C>A r.(?) p.(Leu99Ile) Parent #1 - likely pathogenic (dominant) g.68191923C>A g.67725206C>A RDH12 L99I - RDH12_000030 heterozygous PubMed: Valverde 2009 - - Unknown ? - - - - DNA arraySNP, SEQ blood - retinal disease B237 (04-13) PubMed: Valverde 2009 - - - Spain - - - - - 1 LOVD
+?/. - c.295C>A r.(?) p.(Leu99Ile) Parent #1 - likely pathogenic (dominant) g.68191923C>A g.67725206C>A RDH12 L99I - RDH12_000030 heterozygous PubMed: Valverde 2009 - - Unknown ? - - - - DNA arraySNP, SEQ blood - retinal disease M131 (1962) PubMed: Valverde 2009 - - - Spain - - - - - 1 LOVD
+?/. - c.295C>A r.(?) p.(Leu99Ile) Parent #1 - likely pathogenic g.68191923C>A g.67725206C>A RDH12 c.295C>A, p.L99I - RDH12_000030 heterozygous PubMed: Mackay 2011 - - Unknown ? - - - - DNA arraySNP, SEQ blood method of identification: Asper chip retinal disease 1 PubMed: Mackay 2011 - ? no United Kingdom (Great Britain) white - - - - 1 LOVD
+?/. 3 c.295C>A r.(?) p.(Leu99Ile) Unknown - likely pathogenic g.68191923C>A g.67725206C>A RDH12 c.295C>A, p.L99I - RDH12_000030 heterozygous PubMed: Chacon-Camacho 2013 - - Germline yes - - - - DNA SEQ blood - retinal disease III:1 PubMed: Chacon-Camacho 2013 - M no Mexico Hispanic - - - - 1 LOVD
+?/. 3 c.295C>A r.(?) p.(Leu99Ile) Unknown - likely pathogenic g.68191923C>A g.67725206C>A RDH12 c.295C>A, p.L99I - RDH12_000030 heterozygous PubMed: Chacon-Camacho 2013 - - Germline yes - - - - DNA SEQ blood - retinal disease III:2 PubMed: Chacon-Camacho 2013 - F no Mexico Hispanic - - - - 1 LOVD
+?/. 3 c.295C>A r.(?) p.(Leu99Ile) Unknown - likely pathogenic g.68191923C>A g.67725206C>A RDH12 c.295C>A, p.L99I - RDH12_000030 heterozygous PubMed: Chacon-Camacho 2013 - - Germline yes - - - - DNA SEQ blood - retinal disease III:3 PubMed: Chacon-Camacho 2013 - F no Mexico Hispanic - - - - 1 LOVD
+?/. 3 c.295C>A r.(?) p.(Leu99Ile) Unknown - likely pathogenic g.68191923C>A g.67725206C>A RDH12 c.295C>A, p.L99I - RDH12_000030 heterozygous PubMed: Chacon-Camacho 2013 - - Germline yes - - - - DNA SEQ blood - retinal disease III:6 PubMed: Chacon-Camacho 2013 - F no Mexico Hispanic - - - - 1 LOVD
+?/. 3 c.295C>A r.(?) p.(Leu99Ile) Unknown - likely pathogenic g.68191923C>A g.67725206C>A RDH12 c.295C>A, p.L99I - RDH12_000030 heterozygous PubMed: Chacon-Camacho 2013 - - Germline yes - - - - DNA SEQ blood - retinal disease IV-7 PubMed: Chacon-Camacho 2013 - M yes Mexico Hispanic - - - - 1 LOVD
+?/. - c.295C>A r.(?) p.(Leu99Ile) Both (homozygous) - likely pathogenic g.68191923C>A g.67725206C>A RDH12 c.295 C>A, Leu99Ile - RDH12_000030 homozygous PubMed: Fahim 2019 - - Unknown ? - - - - RNA RT-PCR, SEQ blood - retinal disease 3 PubMed: Fahim 2019 - F - United States - - - - - 1 LOVD
+?/. - c.295C>A r.(?) p.(Leu99Ile) Both (homozygous) - likely pathogenic g.68191923C>A g.67725206C>A RDH12 c.295C>A, Leu99Ile - RDH12_000030 homozygous PubMed: Fahim 2019 - - Unknown ? - - - - RNA RT-PCR, SEQ blood - retinal disease 8 PubMed: Fahim 2019 - M - United States - - - - - 1 LOVD
+?/. - c.295C>A r.(?) p.(Leu99Ile) Parent #1 - likely pathogenic g.68191923C>A g.67725206C>A RDH12 c.295C>A, Leu99Ile - RDH12_000030 single heterozygous variant PubMed: Fahim 2019 - - Unknown ? - - - - RNA RT-PCR, SEQ blood - retinal disease 29 PubMed: Fahim 2019 - F - United States - - - - - 1 LOVD
+?/. - c.295C>A r.(?) p.(Leu99Ile) Both (homozygous) - likely pathogenic g.68191923C>A g.67725206C>A RDH12 c.295C>A, Leu99Ile - RDH12_000030 homozygous PubMed: Fahim 2019 - - Unknown ? - - - - RNA RT-PCR, SEQ blood - retinal disease 55 PubMed: Fahim 2019 - F - United States - - - - - 1 LOVD
+?/. - c.295C>A r.(?) p.(Leu99Ile) Both (homozygous) ACMG pathogenic g.68191923C>A g.67725206C>A RDH12 c.295C>A, p.Leu99Ile - RDH12_000030 homozygous PubMed: Scott 2020 - - Germline yes - - - - DNA ? - - retinal disease OGI1242-2406 PubMed: Scott 2020 - F - United States - - - - - 1 LOVD
+?/. 3 c.295C>A r.(?) p.(Leu99Ile) Unknown - likely pathogenic g.68191923C>A g.67725206C>A RDH12 p.L99I - RDH12_000030 heterozygous PubMed: Garg 2017 - - Germline yes - - - - DNA SEQ - - retinal disease - PubMed: Garg 2017 Family 1, proband M - United States - - - - - 1 LOVD
+?/. 3 c.295C>A r.(?) p.(Leu99Ile) Unknown - likely pathogenic g.68191923C>A g.67725206C>A RDH12 p.L99I - RDH12_000030 heterozygous PubMed: Garg 2017 - - Germline yes - - - - DNA SEQ - - retinal disease - PubMed: Garg 2017 Family 1, proband's sister F - United States - - - - - 1 LOVD
+/. 5 c.295C>A r.(?) p.(Leu99Ile) Both (homozygous) - pathogenic g.68191923C>A - c.295C>A - RDH12_000030 - PubMed: Panneman 2023 - - Unknown - - - - - DNA SEQ - RP-LCA smMIPs sequencing RP - PubMed: Panneman 2023 - M - - - - - - - 1 Daan Panneman
+/. 5 c.295C>A r.(?) p.(Leu99Ile) Parent #2 - pathogenic g.68191923C>A - c.295C>A - RDH12_000030 - PubMed: Panneman 2023 - - Unknown - - - - - DNA SEQ - RP-LCA smMIPs sequencing RP - PubMed: Panneman 2023 - F - - - - - - - 1 Daan Panneman
+/. 5 c.295C>A r.(?) p.(Leu99Ile) Both (homozygous) - pathogenic g.68191923C>A - c.295C>A - RDH12_000030 - PubMed: Panneman 2023 - - Unknown - - - - - DNA SEQ - RP-LCA smMIPs sequencing RP - PubMed: Panneman 2023 - F - - - - - - - 1 Daan Panneman
+/. 5 c.295C>A r.(?) p.(Leu99Ile) Parent #2 - pathogenic g.68191923C>A - c.295C>A - RDH12_000030 - PubMed: Panneman 2023 - - Unknown - - - - - DNA SEQ - RP-LCA smMIPs sequencing RP - PubMed: Panneman 2023 - F - - - - - - - 1 Daan Panneman
+/. 5 c.295C>A r.(?) p.(Leu99Ile) Parent #1 ACMG pathogenic g.68191923C>A g.67725206C>A - - RDH12_000030 - PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - Germline - - - - - DNA SEQ, SEQ-NG - smMIP-based 105 iMD/AMD genes macular dystrophy 071006 PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - M - - - - - - - 1 Rebekkah Hitti-Malin
+/. 5 c.295C>A r.(?) p.(Leu99Ile) Parent #1 ACMG pathogenic g.68191923C>A g.67725206C>A - - RDH12_000030 - PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - Germline - - - - - DNA SEQ, SEQ-NG - smMIP-based 105 iMD/AMD genes macular dystrophy 071517 PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - F - - - - - - - 1 Rebekkah Hitti-Malin
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