Full data view for gene RD3

This database is one of the "Eye disease" gene variant databases.
Information The variants shown are described using the NM_001164688.1 transcript reference sequence.

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

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Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

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?/. 1i c.-11-2A>G r.spl? p.? Unknown - VUS g.211654770T>C g.211481428T>C RD3(NM_183059.3):c.-13A>G - RD3_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. 2 c.-10G>T r.(?) p.(=) Unknown - likely benign g.211654767C>A g.211481425C>A RD3(NM_183059.3):c.-10G>T - RD3_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.16T>C r.(?) p.(Trp6Arg) Unknown - benign g.211654742A>G g.211481400A>G RD3(NM_183059.2):c.16T>C (p.W6R), RD3(NM_183059.3):c.16T>C (p.W6R) - RD3_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.16T>C r.(?) p.(Trp6Arg) Unknown - benign g.211654742A>G g.211481400A>G RD3(NM_183059.2):c.16T>C (p.W6R), RD3(NM_183059.3):c.16T>C (p.W6R) - RD3_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.16T>C r.(?) p.(Trp6Arg) Unknown - VUS g.211654742A>G g.211481400A>G - - RD3_000007 - PubMed: Bryant 2018 - rs35649846 Germline - - - - - DNA SEQ-NG - WES retinal disease JB320 PubMed: Bryant 2018 - - - United States - - - - - 1 LOVD
?/. - c.16T>C r.(?) p.(Trp6Arg) Unknown - VUS g.211654742A>G g.211481400A>G - - RD3_000007 - PubMed: Bryant 2018 - rs35649846 Germline - - - - - DNA SEQ-NG - WES retinal disease JB284 PubMed: Bryant 2018 - - - United States - - - - - 1 LOVD
?/. 2 c.16T>C r.(?) p.(Trp6Arg) Both (homozygous) - VUS g.211654742A>G - c.16T>C - RD3_000007 - - - - Germline - - - - - DNA SEQ, PCR - - retinal disease - PubMed: Friedman-2006 - F - United States American - - - - 1 LOVD
?/. - c.69G>C r.(?) p.(Glu23Asp) Unknown - VUS g.211654689C>G g.211481347C>G RD3(NM_001164688.1):c.69G>C (p.(Glu23Asp)) - RD3_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.69G>C r.(?) p.(Glu23Asp) Unknown - VUS g.211654689C>G g.211481347C>G - - RD3_000006 - PubMed: Bryant 2018 - rs34422496 Germline - - - - - DNA SEQ-NG - WES retinal disease JB320 PubMed: Bryant 2018 - - - United States - - - - - 1 LOVD
?/. - c.69G>C r.(?) p.(Glu23Asp) Unknown - VUS g.211654689C>G g.211481347C>G - - RD3_000006 - PubMed: Bryant 2018 - rs34422496 Germline - - - - - DNA SEQ-NG - WES retinal disease JB284 PubMed: Bryant 2018 - - - United States - - - - - 1 LOVD
?/. 2 c.69G>C r.(?) p.(Glu23Asp) Both (homozygous) - VUS g.211654689C>G - 69G>C - RD3_000006 - - - - Germline - - - - - DNA SEQ, PCR - - retinal disease - PubMed: Friedman-2006 - F - United States American - - - - 1 LOVD
?/. 2 c.84G>A r.(?) p.(=) Both (homozygous) - VUS g.211654674C>T - 84G>A - RD3_000036 - - - - Germline - - - - - DNA SEQ, PCR - - retinal disease - PubMed: Friedman-2006 - F - United States American - - - - 1 LOVD
?/. 2 c.89T>A r.(?) p.(Met30Lys) Unknown - VUS g.211654669A>T g.211481327A>T T89A - RD3_000027 - PubMed: Katagiri 2014 - - Germline - - - - - DNA SEQ-NG-I - - retinal disease - PubMed: Katagiri 2014 index patient F no Japan Japanese - - - - 1 Rob W.J. Collin
?/. 2 c.89T>A r.(?) p.(Met30Lys) Unknown ACMG VUS g.211481327A>T g.211654669A>T c.89T>A - RD3_000027 single heterozygous variant in a recessive gene, probably not causative in the patient PubMed: Hosono 2018 - - Germline no - - - - DNA SEQ-NG, SEQ blood Targeted next-generation sequencing, CEP290 intronic variant c.2991 +1655A>, G, PCR for RPGRIP1 exon 17 deletion, CCT2, CLUAP1, DTHD1, GDF6, and IFT140 seuqencing retinal disease EYE47 PubMed: Hosono 2018 proband, family EYE47 F no Japan Asian - - - - 1 LOVD
+/. - c.94del r.(?) p.(Glu32Serfs*2) Parent #1 - likely pathogenic g.211654664del - 94_95delG - RD3_000019 - PubMed: Jinda 2014 - - Germline - - - - - DNA SEQ-NG-I, SEQ - - retinal disease - PubMed: Jinda 2014 - M ? Thailand ? - - - - 1 Stéphanie Cornelis
+?/. - c.112C>T r.(?) p.(Arg38*) Parent #1 - likely pathogenic g.211654646G>A g.211481304G>A RD3, variant 1: c.112C>T/p.R38*, variant 2: c.112C>T/p.R38* - RD3_000029 solved, homozygous PubMed: Weisschuh 2020 - - Germline yes - - - - DNA SEQ-NG blood RET6 targeted sequencing panel - see paper retinal disease 137 PubMed: Weisschuh 2020 Filing key number: 59, Leber congenital amaurosis, no patient Ids, consecutive numbers given F - Germany - - - - - 1 LOVD
+/. 2 c.112C>T r.(?) p.(Arg38*) Both (homozygous) - pathogenic g.211654646G>A - c.112C>T - RD3_000029 - - - - Germline yes - - - - DNA SEQ, PCR, SSCA - - retinal disease NEM1/II1 PubMed: perrault-2013 - F yes Morocco - - - - - 1 LOVD
+/. 2 c.112C>T r.(?) p.(Arg38*) Both (homozygous) - pathogenic g.211654646G>A - c.112C>T - RD3_000029 - - - - Germline yes - - - - DNA SEQ, PCR, SSCA - - retinal disease NEM2/II1 PubMed: perrault-2013 - F yes Morocco - - - - - 1 LOVD
+/. 2 c.112C>T r.(?) p.(Arg38*) Both (homozygous) - pathogenic g.211654646G>A - c.112C>T - RD3_000029 - - - - Germline yes - - - - DNA SEQ, PCR, SSCA - - retinal disease NEM2/II2 PubMed: perrault-2013 - F yes - - - - - - 1 LOVD
+/. 2 c.112C>T r.(?) p.(Arg38*) Both (homozygous) - pathogenic g.211654646G>A - c.112C>T - RD3_000029 - - - - Germline yes - - - - DNA SEQ, PCR, SSCA - - retinal disease NEM3/II2 PubMed: perrault-2013 - F yes Lebanon - - - - - 1 LOVD
+/. 2 c.112C>T r.(?) p.(Arg38*) Both (homozygous) - pathogenic g.211654646G>A - c.112C>T - RD3_000029 - - - - Germline yes - - - - DNA SEQ, PCR, SSCA - - retinal disease NEM3/II3 PubMed: perrault-2013 - F yes - - - - - - 1 LOVD
+/. 2 c.112C>T r.(?) p.(Arg38*) Both (homozygous) - pathogenic g.211654646G>A - c.112C>T - RD3_000029 - - - - Germline yes - - - - DNA SEQ, PCR, SSCA - - retinal disease NEM3/II4 PubMed: perrault-2013 - M yes - - - - - - 1 LOVD
+/. 2 c.112C>T r.(?) p.(Arg38*) Both (homozygous) - pathogenic g.211654646G>A - c.112C>T - RD3_000029 - - - - Germline yes - - - - DNA SEQ, PCR, SSCA - - retinal disease NEM4/II1 PubMed: perrault-2013 - F yes Turkey - - - - - 1 LOVD
+/. 2 c.112C>T r.(?) p.(Arg38*) Both (homozygous) - pathogenic g.211654646G>A - c.112C>T - RD3_000029 - - - - Germline yes - - - - DNA SEQ, PCR, SSCA - - retinal disease NEM4/II2 PubMed: perrault-2013 - F yes Turkey - - - - - 1 LOVD
+/. 2 c.112C>T r.(?) p.(Arg38*) Both (homozygous) - pathogenic g.211654646G>A - c.112C>T - RD3_000029 - - - - Germline yes - - - - DNA SEQ, PCR, SSCA - - retinal disease F16338/LCA59-2-94 PubMed: perrault-2013 - F yes Turkey - - - - - 1 LOVD
+/. 2 c.112C>T r.(?) p.(Arg38*) Both (homozygous) - pathogenic g.211654646G>A - c.112 C > T, p.Arg38Ter - RD3_000029 - - - - Germline - - - - - DNA SEQ, SEQ-NG - - retinal disease - PubMed: dikkaya-2020 - M - - - - - - - 1 LOVD
?/. - c.118G>A r.(?) p.(Ala40Thr) Unknown - VUS g.211654640C>T g.211481298C>T RD3(NM_183059.2):c.118G>A (p.A40T) - RD3_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.127C>T r.(?) p.(Gln43*) Both (homozygous) ACMG pathogenic g.211654631G>A g.211481289G>A RD3 nucleotide 1, protein 1:c.127C>T, p.Gln43* nucleotide 2, protein 2:-, - RD3_000030 homozygous, ACMG classified, novel (Table 2) PubMed: Hull 2020 - - Germline ? - - - - DNA ? blood NGS gene panel investigation in 60 families, Sanger sequencing in 27 families, and Asper microarray in 25 families retinal disease 83 PubMed: Hull 2020 - ? - New Zealand Pacific - - - - 1 LOVD
+/. 2 c.136G>T r.(?) p.(Glu46*) Both (homozygous) - pathogenic g.211654622C>A - c.136G>T - RD3_000035 - - - - Germline yes - - - - DNA SEQ, PCR, SSCA - - retinal disease FJC/ PubMed: perrault-2013 - F yes Mexico - - - - - 1 LOVD
+/. 2 c.137_138del r.(?) p.(Glu46Alafs*26) Both (homozygous) - pathogenic g.211654620_211654621del - c.137_138delAG - RD3_000034 - - - - Germline yes - - - - DNA SEQ, PCR, SSCA - - retinal disease NEM5/II1 PubMed: perrault-2013 - F yes Algeria - - - - - 1 LOVD
-/. - c.139C>T r.(?) p.(Arg47Cys) Parent #1 - benign g.211654619G>A g.211481277G>A - - RD3_000017 53 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs34049451 Germline - 53/2794 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 53 Mohammed Faruq
-?/. - c.139C>T r.(?) p.(Arg47Cys) Both (homozygous) - likely benign g.211654619G>A g.211481277G>A - - RD3_000017 - PubMed: Basharat 2024 - - Germline no - - - - DNA SEQ, SEQ-NG - smMIPs, WGS ? FamCPatIV5 PubMed: Basharat 2024 sister F yes Pakistan - - - - - 1 Rabia Basharat
-?/. - c.150G>A r.(?) p.(Ala50=) Unknown - likely benign g.211654608C>T g.211481266C>T RD3(NM_183059.3):c.150G>A (p.A50=) - RD3_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.168C>T r.(?) p.(Thr56=) Unknown - likely benign g.211654590G>A g.211481248G>A RD3(NM_183059.3):c.168C>T (p.T56=) - RD3_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 2 c.170G>T r.(?) p.(Gly57Val) Unknown - VUS g.211654588C>A - c.170G>T - RD3_000033 - - - - Germline - - - - - DNA SEQ, PCR - - retinal disease - PubMed: Friedman-2006 - F - - Scandinavian - - - - 1 LOVD
-?/. - c.171T>G r.(?) p.(Gly57=) Unknown - likely benign g.211654587A>C - RD3(NM_183059.3):c.171T>G (p.G57=) - RD3_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.180C>A r.(?) p.(Tyr60*) Both (homozygous) ACMG likely pathogenic g.211654578G>T g.211481236G>T allele 1: c.180C>A/p.Y60*, allele 2: c.180C>A/p.Y60* - RD3_000028 homozygous PubMed: Weisschuh 2018 - - Germline ? - - - - DNA SEQ-NG-I, SEQ blood targeted resequencing using MIPs library prep, 108-gene panel retinal disease 11 PubMed: Weisschuh 2018 - F - Germany - - - - - 1 LOVD
+?/. - c.180C>A r.(?) p.(Tyr60*) Parent #1 - likely pathogenic g.211654578G>T g.211481236G>T RD3, variant 1: c.180C>A/p.Y60*, variant 2: c.180C>A/p.Y60* - RD3_000028 solved, homozygous PubMed: Weisschuh 2020 - - Germline yes - - - - DNA SEQ blood Sanger sequencing retinal disease 277 PubMed: Weisschuh 2020 Filing key number: 92, Leber congenital amaurosis, no patient Ids, consecutive numbers given F - Germany - - - - - 1 LOVD
+?/. - c.180C>A r.(?) p.(Tyr60*) Parent #1 - likely pathogenic g.211654578G>T g.211481236G>T RD3, variant 1: c.180C>A/p.Y60*, variant 2: c.180C>A/p.Y60* - RD3_000028 solved, homozygous PubMed: Weisschuh 2020 - - Germline yes - - - - DNA SEQ-NG blood RET3 targeted sequencing panel - see paper retinal disease 278 PubMed: Weisschuh 2020 Filing key number: 92, Leber congenital amaurosis, no patient Ids, consecutive numbers given F - Germany - - - - - 1 LOVD
+?/. - c.180C>A r.(?) p.(Tyr60*) Parent #1 - likely pathogenic g.211654578G>T g.211481236G>T RD3, variant 1: c.180C>A/p.Y60*, variant 2: c.180C>A/p.Y60* - RD3_000028 solved, homozygous PubMed: Weisschuh 2020 - - Germline yes - - - - DNA SEQ blood Sanger sequencing retinal disease 279 PubMed: Weisschuh 2020 Filing key number: 92, Leber congenital amaurosis, no patient Ids, consecutive numbers given M - Germany - - - - - 1 LOVD
+/. 2 c.180C>A r.(?) p.(Tyr60*) Both (homozygous) - pathogenic g.211654578G>T - c.180C>A - RD3_000028 - - - - Germline - - - - - DNA SEQ, arraySNP - - retinal disease Fam0659: 1,2,4,5,7,10 PubMed: Preising-2012 - - yes - Kurdish - - - - 6 LOVD
+/. - c.180C>A r.(?) p.(Tyr60Ter) Unknown ACMG pathogenic (recessive) g.211654578G>T g.211481236G>T - - RD3_000028 ACMG PM2, PVS1, PP5; no variant 2nd chromosome PubMed: Weisschuh 2024 - - Germline - - - - - DNA SEQ-NG - WGS ? ARRP-301 PubMed: Weisschuh 2024 family, 2 affected F - Germany - - - - - 2 Johan den Dunnen
-/. - c.182G>A r.(?) p.(Ser61Asn) Unknown - benign g.211654576C>T g.211481234C>T RD3(NM_183059.3):c.182G>A (p.S61N) - RD3_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.202C>T r.(?) p.(Arg68Trp) Unknown - VUS g.211654556G>A g.211481214G>A RD3(NM_183059.2):c.202C>T (p.R68W) - RD3_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.203G>A r.(?) p.(Arg68Gln) Unknown - VUS g.211654555C>T g.211481213C>T RD3(NM_183059.2):c.203G>A (p.R68Q) - RD3_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.235T>C r.(?) p.(Leu79=) Unknown - benign g.211654523A>G g.211481181A>G RD3(NM_183059.2):c.235T>C (p.L79=), RD3(NM_183059.3):c.235T>C (p.L79=) - RD3_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.235T>C r.(?) p.(Leu79=) Unknown - benign g.211654523A>G g.211481181A>G RD3(NM_183059.2):c.235T>C (p.L79=), RD3(NM_183059.3):c.235T>C (p.L79=) - RD3_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 2 c.235T>C r.(?) p.(=) Both (homozygous) - VUS g.211654523A>G - 235T>C - RD3_000003 - - - - Germline - - - - - DNA SEQ, PCR - - retinal disease - PubMed: Friedman-2006 - F - United States American - - - - 1 LOVD
+/. 2 c.259A>G r.(?) p.(Lys87Glu) Both (homozygous) - pathogenic g.211654499T>C g.211481157T>C - - RD3_000001 - PubMed: De Castro-Miró 2014 - - Germline yes - - - - DNA SEQ - - RP - PubMed: De Castro-Miró 2014 family, 4 patients M ? Spain - - - - - 4 Marta de Castro-Miró
+?/. 2 c.259A>G r.(?) p.(Lys87Glu) Both (homozygous) - likely pathogenic g.211654499T>C - c.259A>G - RD3_000001 - PubMed: de Castro-Miró-2014 - - Germline - - - - - DNA arraySNP - RD-xip retinal disease 83RE PubMed: de Castro-Miró-2014 - M - - - - - - - 4 LOVD
?/. - c.259A>G r.(?) p.(Lys87Glu) Unknown ACMG VUS g.211654499T>C g.211481157T>C RD3:NM_183059 c.A259G, p.K87E - RD3_000001 heterozygous, individual unsolved, causality of variants unknown PubMed: Rodriguez-Munoz 2020 - - Germline ? - - - - DNA SEQ-NG-I blood - retinal disease RPN-325 PubMed: Rodriguez-Munoz 2020 - ? - Spain - - - - - 1 LOVD
?/. - c.259A>G r.(?) p.(Lys87Glu) Unknown ACMG VUS g.211654499T>C g.211481157T>C - - RD3_000001 ACMG PM2, BS2_SUPPORTING; no variant 2nd chromosome PubMed: Weisschuh 2024 - - Germline - - - - - DNA SEQ-NG - WGS ? OAK-745 PubMed: Weisschuh 2024 patient, no family history F - Germany - - - - - 1 Johan den Dunnen
+/. 2 c.296-1G>A r.(?) p.? Both (homozygous) - pathogenic g.211654463C>T - c.296-1G>A - RD3_000032 - - - - Germline yes 0/121 unrelated ethnically matched controls - - - DNA, RNA SEQ, RT-PCR - RFLP analysis retinal disease - PubMed: Friedman-2005 - - - India - - - - - 1 LOVD
+?/. - c.311T>C r.(?) p.(Leu104Pro) Parent #2 - likely pathogenic g.211652655A>G g.211479313A>G c.T311C p.L104P - RD3_000024 - PubMed: Wang 2016 - - Germline - - - - - DNA SEQ-NG - gene panel retinal disease Fam31 PubMed: Wang 2016 family, 1 affected, unaffected heterozygous carrier parents/relatives - - China Han - - - - 1 LOVD
?/. - c.311T>C r.(?) p.(Leu104Pro) Unknown - VUS g.211652655A>G g.211479313A>G - - RD3_000024 - PubMed: Wang 2015 - - Germline - - - - - DNA SEQ-NG - 163-gene panel retinal disease 159 PubMed: Wang 2015 index case - - China - - - - - 1 LOVD
+?/. - c.346C>T r.(?) p.(Gln116Ter) Parent #1 - likely pathogenic g.211652620G>A g.211479278G>A c.C346T p.Q116X - RD3_000023 - PubMed: Wang 2016 - - Germline - - - - - DNA SEQ-NG - gene panel retinal disease Fam31 PubMed: Wang 2016 family, 1 affected, unaffected heterozygous carrier parents/relatives - - China Han - - - - 1 LOVD
?/. 3 c.389A>T r.(?) p.(Lys130Met) Unknown - VUS g.211652577T>A - c.389A>T - RD3_000031 - - - - Germline - - - - - DNA SEQ, PCR - - retinal disease - PubMed: Friedman-2006 - F - United States American - - - - 1 LOVD
+/. - c.419dup r.(?) p.(Gln141ProfsTer106) Parent #2 - pathogenic g.211652547dup g.211479205dup 418_419insG - RD3_000026 - PubMed: Wang 2015 - - Germline - - - - - DNA SEQ-NG - 163-gene panel retinal disease 152 PubMed: Wang 2015 index case - - China - - - - - 1 LOVD
-?/. - c.433C>A r.(?) p.(Arg145=) Unknown - likely benign g.211652533G>T - RD3(NM_183059.2):c.433C>A (p.R145=) - RD3_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.433C>A r.(=) p.(=) Both (homozygous) - likely benign g.211652533G>T g.211479191G>T - - RD3_000020 - PubMed: Maranha 2015, Journal: Maranhao 2015 - - Germline - - - - - DNA SEQ WBC - RD PKRD141;61141 PubMed: Li 2017 - F yes Pakistan Pakistani - - - - 1 James Hejtmancik
-?/. - c.435G>A r.(?) p.(Arg145=) Unknown - likely benign g.211652531C>T g.211479189C>T RD3(NM_183059.2):c.435G>A (p.R145=) - RD3_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.451del r.(?) p.(Ala151ProfsTer62) Parent #1 - pathogenic g.211652516del g.211479174del - - RD3_000025 - PubMed: Wang 2015 - - Germline - - - - - DNA SEQ-NG - 163-gene panel retinal disease 152 PubMed: Wang 2015 index case - - China - - - - - 1 LOVD
?/. - c.466C>A r.(?) p.(Arg156Ser) Unknown - VUS g.211652500G>T g.211479158G>T RD3(NM_183059.2):c.466C>A (p.R156S) - RD3_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.541C>G r.(?) p.(Leu181Val) Parent #1 - VUS g.211652425G>C g.211479083G>C - - RD3_000021 - PubMed: Zenteno 2020 - - Germline - 1/143 cases - - - DNA SEQ, SEQ-NG - 199 gene panel retinal disease 3580 PubMed: Zenteno 2020 single patient - - Mexico - - - - - 1 Johan den Dunnen
?/. - c.560C>A r.(?) p.(Pro187His) Unknown - VUS g.211652406G>T g.211479064G>T - - RD3_000022 - PubMed: Costa 2017 - - Germline - - - - - DNA SEQ-NG - 132-gene panel retinal disease Pat6 PubMed: Costa 2017 - M - Brazil - - - - - 1 LOVD
?/. - c.569G>C r.(?) p.(Arg190Pro) Unknown - VUS g.211652397C>G g.211479055C>G RD3(NM_183059.3):c.569G>C (p.R190P) - RD3_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.584A>T r.(?) p.(Asp195Val) Unknown - benign g.211652382T>A g.211479040T>A RD3(NM_183059.2):c.584A>T (p.D195V) - RD3_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 3 c.584A>T r.(?) p.(Asp195Val) Unknown - likely pathogenic g.211652382T>A - c.584A>T - RD3_000002 - PubMed: Eisenberger-2013 - rs143207434 Germline - - - - - DNA SEQ-NG-I, SEQ-NG-R, SEQ blood - retinal disease - PubMed: Eisenberger-2013 - M ? Germany - - - - - 1 LOVD
+?/. 3 c.584A>T r.(?) p.(Asp195Val) Unknown - likely pathogenic g.211652382T>A - c.584A>T - RD3_000002 - PubMed: Eisenberger-2013 - rs143207434 Germline - - - - - DNA SEQ-NG-I - - retinal disease - PubMed: Eisenberger 2014 index patient M no Germany - - - - - 1 Rob W.J. Collin
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