Full data view for gene PRCD

This database is one of the "Eye disease" gene variant databases.
Information The variants shown are described using the NM_001077620.2 transcript reference sequence.

59 entries on 1 page. Showing entries 1 - 59.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/. - 
c.64C>T r.(?) p.(Arg22Ter) Parent #2 - pathogenic (recessive) g.74536287C>T g.76540205C>T - - PRCD_000006 - PubMed: Van Huet 2015 - - Germline - - - - - DNA PE, SEQ - APEX retinal disease - PubMed: Van Huet 2015 - - - Netherlands - - - - - 1 LOVD
-?/. - c.-11573T>G r.(?) p.(=) Unknown - likely benign g.74524651T>G - CYGB(NM_134268.4):c.*9A>C (p.?) - CYGB_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-3G>A r.(=) p.(=) Unknown - VUS g.74536221G>A g.76540139G>A - - PRCD_000007 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs370328118 Germline - 2/1204 cases with retinitis pigmentosa - - - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - 2 Yoshito Koyanagi
+/. 1 c.2T>C r.(?) p.0? Both (homozygous) - pathogenic g.74536225T>C g.76540143T>C - - PRCD_000002 - PubMed: Li 2017 - - Germline yes - - - - DNA SEQ WBC - retinal disease 61376 PubMed: Li 2017 - F yes Pakistan Pakistani - - - - 1 James Hejtmancik
+/. - c.2T>C r.(?) p.(Met1?) Unknown - pathogenic g.74536225T>C g.76540143T>C - - PRCD_000002 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs527236092 Germline - 3/1204 cases with retinitis pigmentosa - - - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - 3 Yoshito Koyanagi
+/. - c.2T>C r.(?) p.(Met1?) Both (homozygous) - pathogenic g.74536225T>C g.76540143T>C - - PRCD_000002 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs527236092 Germline - 3/1204 cases with retinitis pigmentosa - - - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - 3 Yoshito Koyanagi
+/. - c.2T>C p.? p.Met1? Both (homozygous) - pathogenic g.74536225T>C g.76540143T>C - - PRCD_000002 - PubMed: Maeda 2018 - rs527236092 Germline - - - - - DNA SEQ, SEQ-NG - 39-gene panel retinal disease Pat37 PubMed: Maeda 2018 family M - Japan - - - - - 1 LOVD
+/. - c.2T>C r.(?) p.(Met1?) Unknown - pathogenic g.74536225T>C g.76540143T>C - - PRCD_000002 - PubMed: Haer-Wigman 2017 - - Germline - - - - - DNA SEQ-NG - gene panel ? 164 PubMed: Haer-Wigman 2017 patient - no Netherlands - - - - - 1 LOVD
+/. - c.2T>C r.(?) p.(Met1?) Parent #1 - pathogenic (recessive) g.74536225T>C g.76540143T>C - - PRCD_000002 - PubMed: Van Huet 2015 - - Germline - - - - - DNA PE, SEQ - APEX retinal disease - PubMed: Van Huet 2015 - - - Netherlands - - - - - 1 LOVD
+/. - c.2T>C r.(?) p.(Met1?) Both (homozygous) - pathogenic g.74536225T>C g.76540143T>C M1T - PRCD_000002 - PubMed: Oishi 2014 - - Germline - - - - - DNA SEQ-NG - 193-gene panel retinal disease K6167 PubMed: Oishi 2014 family - - Japan - - - - - 1 LOVD
+/. 1 c.2T>C r.(?) p.? Both (homozygous) - pathogenic g.74536225T>C - c.2T>C - PRCD_000002 - PubMed: Fu-2013 - - Germline - - - - - DNA SEQ-NG blood - retinal disease - PubMed: Fu-2013 - M - China Chinese - - - - 2 LOVD
+?/. - c.2T>C r.(?) p.(Met1?) Unknown - likely pathogenic g.74536225T>C - - - PRCD_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.2T>C r.(?) p.(Met1?) Both (homozygous) - likely pathogenic g.74536225T>C g.76540143T>C - - PRCD_000002 - PubMed: Midgley 2024 - rs527236092 Germline - - - - - DNA SEQ-NG - gene panel retinal disease Pat46 PubMed: Midgley 2024 - M - South Africa Africa-indigenous - - - - 1 Johan den Dunnen
+?/. - c.2T>C r.(?) p.(Met1?) Both (homozygous) - likely pathogenic g.74536225T>C g.76540143T>C - - PRCD_000002 - PubMed: Midgley 2024 - rs527236092 Germline - - - - - DNA SEQ-NG - gene panel retinal disease Pat60 PubMed: Midgley 2024 - M - South Africa Africa-indigenous - - - - 1 Johan den Dunnen
+?/. - c.5G>A r.(?) p.(Cys2Tyr) Both (homozygous) - likely pathogenic g.74536228G>A g.76540146G>A PRCD - PRCD_000015 homozygous PubMed: Zangerl 2006 - - Germline yes - - - - DNA SEQp blood - retinal disease 3 PubMed: Zangerl 2006 - F - - Bangladesh - - - - 1 LOVD
?/. - c.13C>G r.(?) p.(Leu5Val) Unknown - VUS g.74536236C>G g.76540154C>G PRCD(NM_001077620.2):c.13C>G (p.L5V) - PRCD_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/? 1 c.49C>T r.(?) p.(Arg17Cys) Unknown - VUS g.74536272C>T g.76540190C>T - - PRCD_000001 - - - - Unknown - - - - - DNA SEQ-NG-I - - RP - - - - - (United States) - - - - - 1 Feng Wang
-/. - c.49C>T r.(?) p.(Arg17Cys) Unknown - benign g.74536272C>T g.76540190C>T PRCD(NM_001077620.2):c.49C>T (p.R17C), PRCD(NM_001077620.3):c.49C>T (p.R17C) - PRCD_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.49C>T r.(?) p.(Arg17Cys) Unknown - benign g.74536272C>T g.76540190C>T PRCD(NM_001077620.2):c.49C>T (p.R17C), PRCD(NM_001077620.3):c.49C>T (p.R17C) - PRCD_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 1 c.49C>T r.(?) p.(Arg17Cys) Both (homozygous) - pathogenic g.74536272C>T - c.49C>T - PRCD_000001 - PubMed: Wang-2014 - - Unknown - - - - - DNA PCR, SEQ-NG blood or a saliva sample - retinal disease - PubMed: Wang-2014 - - no - - - - - - 1 LOVD
+/. - c.52C>T r.(?) p.(Arg18*) Unknown - pathogenic g.74536275C>T g.76540193C>T - - PRCD_000008 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs527451635 Germline - 2/1204 cases with retinitis pigmentosa - - - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - 2 Yoshito Koyanagi
+?/. - c.52C>T r.(?) p.(Arg18*) Parent #1 - likely pathogenic g.74536275C>T g.76540193C>T PRCD, variant 1: c.52C>T/p.R18*, variant 2: c.73C>A/p.P25T - PRCD_000008 possibly solved, compound heterozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ-NG blood RET3 targeted sequencing panel - see paper retinal disease 136 PubMed: Weisschuh 2020 Filing key number: 59, sporadic retinitis pigmentosa, no patient Ids, consecutive numbers given F - Germany - - - - - 1 LOVD
+?/. - c.52C>T r.(?) p.(Arg18*) Parent #1 - likely pathogenic g.74536275C>T g.76540193C>T PRCD, variant 1: c.52C>T/p.R18*, variant 2: c.52C>T/p.R18* - PRCD_000008 solved, homozygous PubMed: Weisschuh 2020 - - Germline yes - - - - DNA SEQ-NG blood RET2 targeted sequencing panel - see paper retinal disease 226 PubMed: Weisschuh 2020 Filing key number: 79, autosomal recessive retinitis pigmentosa, no patient Ids, consecutive numbers given F - Germany - - - - - 1 LOVD
+?/. - c.52C>T r.(?) p.(Arg18*) Parent #1 - likely pathogenic g.74536275C>T g.76540193C>T PRCD, variant 1: c.52C>T/p.R18*, variant 2: c.52C>T/p.R18* - PRCD_000008 solved, homozygous PubMed: Weisschuh 2020 - - Germline yes - - - - DNA SEQ blood Sanger sequencing retinal disease 227 PubMed: Weisschuh 2020 Filing key number: 79, autosomal recessive retinitis pigmentosa, no patient Ids, consecutive numbers given F - Germany - - - - - 1 LOVD
+?/. - c.52C>T r.(?) p.(Arg18*) Parent #1 - likely pathogenic g.74536275C>T g.76540193C>T PRCD, variant 1: c.52C>T/p.R18*, variant 2: c.52C>T/p.R18* - PRCD_000008 solved, homozygous PubMed: Weisschuh 2020 - - Germline yes - - - - DNA SEQ blood Sanger sequencing retinal disease 228 PubMed: Weisschuh 2020 Filing key number: 79, autosomal recessive retinitis pigmentosa, no patient Ids, consecutive numbers given M - Germany - - - - - 1 LOVD
+?/. 1 c.52C>T r.(?) p.(Arg18*) Both (homozygous) - likely pathogenic g.74536275C>T g.76540193C>T PRCD c.52C>T, p.R18X - PRCD_000008 homozygous PubMed: Pach 2013 - - Germline yes - - - - DNA SEQ-NG blood high-throughput panel sequencing retinal disease IV:3 PubMed: Pach 2013 - F yes Turkey - - - - - 1 LOVD
+?/. 1 c.52C>T r.(?) p.(Arg18*) Both (homozygous) - likely pathogenic g.74536275C>T g.76540193C>T PRCD c.52C>T, p.R18X - PRCD_000008 homozygous PubMed: Pach 2013 - - Germline yes - - - - DNA SEQ-NG blood high-throughput panel sequencing retinal disease IV:4 PubMed: Pach 2013 - M yes Turkey - - - - - 1 LOVD
+?/. 1 c.52C>T r.(?) p.(Arg18*) Both (homozygous) - likely pathogenic g.74536275C>T g.76540193C>T PRCD c.52C>T, p.R18X - PRCD_000008 homozygous PubMed: Pach 2013 - - Germline yes - - - - DNA SEQ-NG blood high-throughput panel sequencing retinal disease IV:5 PubMed: Pach 2013 - F yes Turkey - - - - - 1 LOVD
+/. - c.52C>T r.(?) p.(Arg18Ter) Both (homozygous) ACMG pathogenic (recessive) g.74536275C>T g.76540193C>T - - PRCD_000008 ACMG PM2, PVS1, PP5 PubMed: Weisschuh 2024 - - Germline - - - - - DNA SEQ-NG - WGS ? ARRP-456 PubMed: Weisschuh 2024 family, >3 affected M - Germany - - - - - 4 Johan den Dunnen
+/. - c.52C>T r.(?) p.(Arg18Ter) Both (homozygous) ACMG pathogenic (recessive) g.74536275C>T g.76540193C>T - - PRCD_000008 ACMG PM2, PVS1, PP5 PubMed: Weisschuh 2024 - - Germline - - - - - DNA SEQ-NG - WGS ? ARRP-460 PubMed: Weisschuh 2024 patient, no family history M - Germany - - - - - 1 Johan den Dunnen
+/. - c.64C>T r.(?) p.(Arg22Ter) Unknown - pathogenic g.74536287C>T g.76540205C>T - - PRCD_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.64C>T r.(?) p.(Arg22*) Both (homozygous) - pathogenic g.74536287C>T g.76540205C>T - - PRCD_000006 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs387907268 Germline - 1/1204 cases with retinitis pigmentosa - - - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - 1 Yoshito Koyanagi
+/. - c.64C>T r.(?) p.(Arg22*) Unknown ACMG pathogenic g.74536287C>T - - - PRCD_000006 - PubMed: Sharon 2019 - - Germline - 15/2420 IRD families - - - DNA SEQ - - retinal disease - PubMed: Sharon 2019 15 IRD families - - Israel - - - - - 15 Global Variome, with Curator vacancy
+/. - c.64C>T r.(?) p.(Arg22*) Unknown - pathogenic g.74536287C>T g.76540205C>T - - PRCD_000006 - PubMed: Haer-Wigman 2017 - - Germline - - - - - DNA SEQ-NG - gene panel ? 164 PubMed: Haer-Wigman 2017 patient - no Netherlands - - - - - 1 LOVD
+/. 1 c.64C>T r.(?) p.(Arg22Ter) Both (homozygous) - pathogenic (recessive) g.74536287C>T g.76540205C>T - - PRCD_000006 - PubMed: Beheshtian 2015 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES retinal disease 9200034/I-39360 PubMed: Beheshtian 2015 4-generation family, 2 affected (2M), unaffected heterozygous carrier parents/relatives M yes Iran - - - - - 2 LOVD
+?/. - c.64C>T r.(?) p.(Arg22*) Both (homozygous) - likely pathogenic g.74536287C>T g.76540205C>T PRCD c.64C>T (p.R22X) - PRCD_000006 homozygous PubMed: Nevet 2010 - - Germline yes - - - - DNA SEQ blood - retinal disease 307 PubMed: Nevet 2010 single village with high carrier frequency; family numbers on pedigrees do not have individual numbers that are in the table ? yes Israel Arab - - - - 1 LOVD
+?/. - c.64C>T r.(?) p.(Arg22*) Both (homozygous) - likely pathogenic g.74536287C>T g.76540205C>T PRCD c.64C>T (p.R22X) - PRCD_000006 homozygous PubMed: Nevet 2010 - - Germline yes - - - - DNA SEQ blood - retinal disease 308 PubMed: Nevet 2010 single village with high carrier frequency; family numbers on pedigrees do not have individual numbers that are in the table ? yes Israel Arab - - - - 1 LOVD
+?/. - c.64C>T r.(?) p.(Arg22*) Both (homozygous) - likely pathogenic g.74536287C>T g.76540205C>T PRCD c.64C>T (p.R22X) - PRCD_000006 homozygous PubMed: Nevet 2010 - - Germline yes - - - - DNA SEQ blood - retinal disease 511 PubMed: Nevet 2010 single village with high carrier frequency; family numbers on pedigrees do not have individual numbers that are in the table ? yes Israel Arab - - - - 1 LOVD
+?/. - c.64C>T r.(?) p.(Arg22*) Both (homozygous) - likely pathogenic g.74536287C>T g.76540205C>T PRCD c.64C>T (p.R22X) - PRCD_000006 homozygous PubMed: Nevet 2010 - - Germline yes - - - - DNA SEQ blood - retinal disease 651 PubMed: Nevet 2010 single village with high carrier frequency; family numbers on pedigrees do not have individual numbers that are in the table ? yes Israel Arab - - - - 1 LOVD
+?/. - c.64C>T r.(?) p.(Arg22*) Both (homozygous) - likely pathogenic g.74536287C>T g.76540205C>T PRCD c.64C>T (p.R22X) - PRCD_000006 homozygous PubMed: Nevet 2010 - - Germline yes - - - - DNA SEQ blood - retinal disease 616 PubMed: Nevet 2010 single village with high carrier frequency; family numbers on pedigrees do not have individual numbers that are in the table ? yes Israel Arab - - - - 1 LOVD
+?/. - c.64C>T r.(?) p.(Arg22*) Both (homozygous) - likely pathogenic g.74536287C>T g.76540205C>T PRCD c.64C>T (p.R22X) - PRCD_000006 homozygous PubMed: Nevet 2010 - - Germline yes - - - - DNA SEQ blood - retinal disease 485 PubMed: Nevet 2010 single village with high carrier frequency; family numbers on pedigrees do not have individual numbers that are in the table ? yes Israel Arab - - - - 1 LOVD
+?/. - c.64C>T r.(?) p.(Arg22*) Both (homozygous) - likely pathogenic g.74536287C>T g.76540205C>T PRCD c.64C>T (p.R22X) - PRCD_000006 homozygous PubMed: Nevet 2010 - - Germline yes - - - - DNA SEQ blood - retinal disease 853 PubMed: Nevet 2010 single village with high carrier frequency; family numbers on pedigrees do not have individual numbers that are in the table ? yes Israel Arab - - - - 1 LOVD
+?/. - c.64C>T r.(?) p.(Arg22*) Both (homozygous) - likely pathogenic g.74536287C>T g.76540205C>T PRCD c.64C>T (p.R22X) - PRCD_000006 homozygous PubMed: Nevet 2010 - - Germline yes - - - - DNA SEQ blood - retinal disease 572 PubMed: Nevet 2010 single village with high carrier frequency; family numbers on pedigrees do not have individual numbers that are in the table ? yes Israel Arab - - - - 1 LOVD
+?/. - c.64C>T r.(?) p.(Arg22*) Both (homozygous) - likely pathogenic g.74536287C>T g.76540205C>T PRCD c.64C>T (p.R22X) - PRCD_000006 homozygous PubMed: Nevet 2010 - - Germline yes - - - - DNA SEQ blood - retinal disease 656 PubMed: Nevet 2010 single village with high carrier frequency; family numbers on pedigrees do not have individual numbers that are in the table ? yes Israel Arab - - - - 1 LOVD
+?/. - c.64C>T r.(?) p.(Arg22*) Both (homozygous) - likely pathogenic g.74536287C>T g.76540205C>T PRCD c.64C>T (p.R22X) - PRCD_000006 homozygous PubMed: Nevet 2010 - - Germline yes - - - - DNA SEQ blood - retinal disease 505 PubMed: Nevet 2010 single village with high carrier frequency; family numbers on pedigrees do not have individual numbers that are in the table ? yes Israel Arab - - - - 1 LOVD
+/. 1 c.64C>T r.(?) p.(Arg22*) Both (homozygous) - pathogenic g.74536287C>T - c.64C>T - PRCD_000006 - PubMed: Panneman 2023 - - Unknown - - - - - DNA SEQ - RP-LCA smMIPs sequencing RP - PubMed: Panneman 2023 - F - - - - - - - 1 Daan Panneman
+/. - c.64C>T r.(?) p.(Arg22Ter) Both (homozygous) ACMG pathogenic (recessive) g.74536287C>T g.76540205C>T - - PRCD_000006 ACMG PM2, PVS1, PP5 PubMed: Weisschuh 2024 - - Germline - - - - - DNA SEQ-NG - WGS ? ARRP-435 PubMed: Weisschuh 2024 patient, no family history F - Germany - - - - - 1 Johan den Dunnen
+?/. - c.70C>T r.(?) p.(Gln24Ter) Both (homozygous) - likely pathogenic g.74536293C>T g.76540211C>T - - PRCD_000010 - PubMed: Riera 2017 - - Germline yes - - - - DNA SEQ-NG - 212-gene panel retinal disease Fi15/24 PubMed: Riera 2017 family, several affected - - Spain - - - - - 2 LOVD
+?/. - c.73C>A r.(?) p.(Pro25Thr) Parent #1 - likely pathogenic g.74536296C>A g.76540214C>A PRCD, variant 1: c.52C>T/p.R18*, variant 2: c.73C>A/p.P25T - PRCD_000014 possibly solved, compound heterozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ-NG blood RET3 targeted sequencing panel - see paper retinal disease 136 PubMed: Weisschuh 2020 Filing key number: 59, sporadic retinitis pigmentosa, no patient Ids, consecutive numbers given F - Germany - - - - - 1 LOVD
+?/. 1 c.74C>T r.(?) p.(Pro25Leu) Both (homozygous) - likely pathogenic g.74536297C>T g.76540215C>T PRCD:NM_001077620:exon1:c.74C>T:p.P25L - PRCD_000011 homozygous PubMed: Chen 2020 - - Germline ? - - - - DNA SEQ-NG-I blood - retinal disease F9-II-1 PubMed: Chen 2020 - F - Taiwan - - - - - 1 LOVD
+/. - c.74+1G>A r.spl? p.? Both (homozygous) - pathogenic g.74536298G>A g.76540216G>A - - PRCD_000009 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs779066277 Germline - 1/1204 cases with retinitis pigmentosa - - - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - 1 Yoshito Koyanagi
+?/. - c.74+1G>A r.spl p.? Both (homozygous) - likely pathogenic g.74536298G>A g.76540216G>A - - PRCD_000009 - PubMed: Perez-Carro 2016 - - Germline yes - - - - DNA SEQ-NG - gene panel retinal disease RP-0040 PubMed: Perez-Carro 2016 - - - Spain - - - - - 1 LOVD
+?/. - c.74+5G>C r.spl? p.(?) Unknown ACMG likely pathogenic g.74536302G>C g.76540220G>C PRCD:NM_001077620 c.74+5G>C, p.? - PRCD_000012 heterozygous, individual solved, variant causal PubMed: Rodriguez-Munoz 2020 - - Germline yes - - - - DNA SEQ-NG-I blood - retinal disease RPN-451 PubMed: Rodriguez-Munoz 2020 family fRPN-203, proband M - Spain - - - - - 1 LOVD
-/. - c.74+14C>T r.(=) p.(=) Unknown - benign g.74536311C>T g.76540229C>T PRCD(NM_001077620.3):c.74+14C>T - CYGB_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.88G>A r.(?) p.(Val30Met) Unknown - likely pathogenic g.74536600G>A g.76540518G>A PRCD - PRCD_000016 single heterozygous variant in a recessive disease PubMed: Zangerl 2006 - - Germline yes - - - - DNA SEQp blood - retinal disease 1 PubMed: Zangerl 2006 - - - - - - - - - 1 LOVD
+/. - c.102_111dup r.(?) p.(Ser38*) Unknown ACMG pathogenic g.74536614_74536623dup g.76540532_76540541dup PRCD:NM_001077620 c.102_111dup, p.Ser38X - PRCD_000013 heterozygous, individual solved, variant causal PubMed: Rodriguez-Munoz 2020 - - Germline yes - - - - DNA SEQ-NG-I blood - retinal disease RPN-451 PubMed: Rodriguez-Munoz 2020 family fRPN-203, proband M - Spain - - - - - 1 LOVD
?/. - c.107G>A r.(?) p.(Gly36Asp) Unknown ACMG VUS g.74536619G>A g.76540537G>A - - PRCD_000017 ACMG PM2, BP4 PubMed: Weisschuh 2024 - - Germline - - - - - DNA SEQ-NG - WGS ? ARRP-195 PubMed: Weisschuh 2024 family, 2 affected M - Germany - - - - - 2 Johan den Dunnen
-/. - c.143+13T>C r.(=) p.(=) Unknown - benign g.74536668T>C g.76540586T>C PRCD(NM_001077620.3):c.143+13T>C - PRCD_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*60-19C>T r.(=) p.(=) Unknown - benign g.74539092C>T g.76543010C>T PRCD(NM_001077620.3):c.*60-19C>T - PRCD_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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