Full data view for gene RP2

This database is one of the "Eye disease" gene variant databases.
Information The variants shown are described using the NM_006915.2 transcript reference sequence.

35 entries on 1 page. Showing entries 1 - 35.
Legend   How to query  

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.352C>T r.(?) p.(Arg118Cys) Unknown - pathogenic g.46713160C>T g.46853725C>T - - RP2_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.352C>T r.(?) p.(Arg118Cys) Unknown ACMG pathogenic g.46713160C>T - - - RP2_000019 - PubMed: Sharon 2019 - - Germline - 2/2420 IRD families - - - DNA SEQ - - retinal disease - PubMed: Sharon 2019 2 IRD families - - Israel - - - - - 2 Global Variome, with Curator vacancy
+/. - c.352C>T r.(?) p.(Arg118Cys) Parent #1 - pathogenic g.46713160C>T - - - RP2_000019 - PubMed: Bader 2003 - - Germline - - - - - DNA SEQ - - retinal disease XRP32/8801 PubMed: Bader 2003 - M - Germany - - - - - 1 Johan den Dunnen
+?/. 2 c.352C>T r.(?) p.(Arg118Cys) Parent #1 - likely pathogenic (recessive) g.46713160C>T g.46853725C>T C352T - RP2_000019 - PubMed: Sharon 2003 - - Germline - - - - - DNA SSCA, SEQ - - retinal disease 121-211 PubMed: Sharon 2003 - M - United States - - - - - 1 LOVD
+/. - c.352C>T r.(?) p.(Arg118Cys) Maternal (inferred) - pathogenic g.46713160C>T - X:46713160C>T ENST00000218340.3:c.352C>T (Arg118Cys) - RP2_000019 - PubMed: Carss 2017 - - Germline - - - - - DNA SEQ-NG - WES and WGS retinal disease G006008 PubMed: Carss 2017 - M - United Kingdom (Great Britain) Europe - - - - 1 LOVD
+?/. - c.352C>T r.(?) p.(Arg118Cys) Unknown - likely pathogenic g.46713160C>T g.46853725C>T - - RP2_000019 - PubMed: Patel 2016 - - Germline - - - - - DNA SEQ-NG - gene panel retinal disease 10DG0873 PubMed: Patel 2016 - - - Saudi Arabia - - - - - 1 LOVD
+/. - c.352C>T r.(?) p.(Arg118Cys) Unknown - pathogenic g.46713160C>T g.46853725C>T - - RP2_000019 - PubMed: Zhao 2015 - - Germline - - - - - DNA SEQ-NG - 86-gene panel retinal disease Rp181 PubMed: Zhao 2015 family - - Northern Ireland - - - - - 1 LOVD
+?/. - c.352C>T r.(?) p.(Arg118Cys) Unknown ACMG VUS g.46713160C>T - - - RP2_000019 - - - - Germline/De novo (untested) - - - - - DNA SEQ-NG-I - - RP IR_GH_0160 - - M - Korea, South (Republic) - - - - - 1 Jinu Han
+?/. - c.352C>T r.(?) p.(Arg118Cys) Parent #1 - likely pathogenic g.46713160C>T g.46853725C>T RP2, variant 1: c.352C>T/p.R118C - RP2_000019 solved, hemizygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ-NG blood RET3 targeted sequencing panel - see paper retinal disease 341 PubMed: Weisschuh 2020 Filing key number: 114, X-linked retinitis pigmentosa, no patient Ids, consecutive numbers given M - Germany - - - - - 1 LOVD
+?/. - c.352C>T r.(?) p.(Arg118Cys) Parent #1 - likely pathogenic g.46713160C>T g.46853725C>T RP2, variant 1: c.352C>T/p.R118C - RP2_000019 solved, hemizygous PubMed: Weisschuh 2020 - - Germline yes - - - - DNA SEQ blood Sanger sequencing retinal disease 369 PubMed: Weisschuh 2020 Filing key number: 123, X-linked retinitis pigmentosa, no patient Ids, consecutive numbers given M - Germany - - - - - 1 LOVD
+?/. - c.352C>T r.(?) p.(Arg118Cys) Parent #1 - likely pathogenic g.46713160C>T g.46853725C>T RP2, variant 1: c.352C>T/p.R118C - RP2_000019 solved, hemizygous PubMed: Weisschuh 2020 - - Germline yes - - - - DNA SEQ-NG blood RET5 targeted sequencing panel - see paper retinal disease 370 PubMed: Weisschuh 2020 Filing key number: 123, X-linked retinitis pigmentosa, no patient Ids, consecutive numbers given M - Germany - - - - - 1 LOVD
+?/. - c.352C>T r.(?) p.(Arg118Cys) Maternal (inferred) - likely pathogenic g.46713160C>T g.46853725C>T RP2 c.352C>T, p.Arg118Cys - RP2_000019 hemizygous PubMed: Turro 2020 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG-I blood whole genome sequencing retinal disease G006008 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.352C>T r.(?) p.(Arg118Cys) Maternal (confirmed) ACMG likely pathogenic g.46713160C>T g.46853725C>T RP2 c.352C>T, p.(Arg118Cys) - RP2_000019 - PubMed: Rodriguez Munoz 2021 - - Germline yes - - - - DNA SEQ-NG blood custom panel of 117 IRD-associated genes retinal disease RPN-569 PubMed: Rodriguez Munoz 2021 family ID fRPN-NB, second family loop (great-greatgrandparents of proband in common) M - Spain - - - - - 1 LOVD
+?/. - c.352C>T r.(?) p.(Arg118Cys) Maternal (confirmed) ACMG likely pathogenic g.46713160C>T g.46853725C>T RP2 c.352C>T, p.(Arg118Cys) - RP2_000019 - PubMed: Rodriguez Munoz 2021 - - Germline yes - - - - DNA SEQ-NG blood custom panel of 117 IRD-associated genes retinal disease RPN-418 PubMed: Rodriguez Munoz 2021 family ID fRPN-NB, second family loop (great-greatgrandparents of proband in common) F - Spain - - - - - 1 LOVD
+?/. - c.352C>T r.(?) p.(Arg118Cys) Paternal (confirmed) ACMG likely pathogenic g.46713160C>T g.46853725C>T RP2 c.352C>T, p.(Arg118Cys) - RP2_000019 - PubMed: Rodriguez Munoz 2021 - - Germline yes - - - - DNA SEQ-NG blood custom panel of 117 IRD-associated genes retinal disease RPN-574 PubMed: Rodriguez Munoz 2021 family ID fRPN-NB, second family loop (great-greatgrandparents of proband in common) F - Spain - - - - - 1 LOVD
+?/. - c.352C>T r.(?) p.(Arg118Cys) Maternal (confirmed) ACMG likely pathogenic g.46713160C>T g.46853725C>T RP2 c.352C>T, p.(Arg118Cys) - RP2_000019 - PubMed: Rodriguez Munoz 2021 - - Germline yes - - - - DNA SEQ-NG blood custom panel of 117 IRD-associated genes retinal disease RPN-576 PubMed: Rodriguez Munoz 2021 family ID fRPN-NB, second family loop (great-greatgrandparents of proband in common) M - Spain - - - - - 1 LOVD
+?/. - c.352C>T r.(?) p.(Arg118Cys) Maternal (confirmed) ACMG likely pathogenic g.46713160C>T g.46853725C>T RP2 c.352C>T, p.(Arg118Cys) - RP2_000019 - PubMed: Rodriguez Munoz 2021 - - Germline yes - - - - DNA SEQ-NG blood custom panel of 117 IRD-associated genes retinal disease RPN-643 PubMed: Rodriguez Munoz 2021 family ID fRPN-NB, second family loop (great-greatgrandparents of proband in common) F - Spain - - - - - 1 LOVD
+?/. - c.352C>T r.(?) p.(Arg118Cys) Paternal (confirmed) ACMG likely pathogenic g.46713160C>T g.46853725C>T RP2 c.352C>T, p.(Arg118Cys) - RP2_000019 - PubMed: Rodriguez Munoz 2021 - - Germline yes - - - - DNA SEQ-NG blood custom panel of 117 IRD-associated genes retinal disease RPN-644 PubMed: Rodriguez Munoz 2021 family ID fRPN-NB, second family loop (great-greatgrandparents of proband in common) F - Spain - - - - - 1 LOVD
+?/. - c.352C>T r.(?) p.(Arg118Cys) Maternal (inferred) ACMG likely pathogenic g.46713160C>T g.46853725C>T RP2 c.352C>T, p.(Arg118Cys) - RP2_000019 - PubMed: Rodriguez Munoz 2021 - - Germline yes - - - - DNA SEQ-NG blood custom panel of 117 IRD-associated genes retinal disease RPN-578 PubMed: Rodriguez Munoz 2021 family ID fRPN-NB, second family loop (great-greatgrandparents of proband in common) M - Spain - - - - - 1 LOVD
+?/. - c.352C>T r.(?) p.(Arg118Cys) Maternal (inferred) ACMG likely pathogenic g.46713160C>T g.46853725C>T RP2 c.352C>T, p.(Arg118Cys) - RP2_000019 - PubMed: Rodriguez Munoz 2021 - - Germline yes - - - - DNA SEQ-NG blood custom panel of 117 IRD-associated genes retinal disease RPN-481 PubMed: Rodriguez Munoz 2021 family ID fRPN-NB, second family loop (great-greatgrandparents of proband in common) M - Spain - - - - - 1 LOVD
+?/. - c.352C>T r.(?) p.(Arg118Cys) Paternal (confirmed) ACMG likely pathogenic g.46713160C>T g.46853725C>T RP2 c.352C>T, p.(Arg118Cys) - RP2_000019 - PubMed: Rodriguez Munoz 2021 - - Germline yes - - - - DNA SEQ-NG blood custom panel of 117 IRD-associated genes retinal disease RPN-573 PubMed: Rodriguez Munoz 2021 family ID fRPN-NB, second family loop (great-greatgrandparents of proband in common) F - Spain - - - - - 1 LOVD
+?/. - c.352C>T r.(?) p.(Arg118Cys) Maternal (confirmed) ACMG likely pathogenic g.46713160C>T g.46853725C>T RP2 c.352C>T, p.(Arg118Cys) - RP2_000019 - PubMed: Rodriguez Munoz 2021 - - Germline yes - - - - DNA SEQ-NG blood custom panel of 117 IRD-associated genes retinal disease RPN-569 PubMed: Rodriguez Munoz 2021 family ID fRPN-NB, second family loop (great-greatgrandparents of proband in common) M - Spain - - - - - 1 LOVD
+?/. - c.352C>T r.(?) p.(Arg118Cys) Maternal (confirmed) ACMG likely pathogenic g.46713160C>T g.46853725C>T RP2 c.352C>T, p.(Arg118Cys) - RP2_000019 - PubMed: Rodriguez Munoz 2021 - - Germline yes - - - - DNA SEQ-NG blood custom panel of 117 IRD-associated genes retinal disease RPN-418 PubMed: Rodriguez Munoz 2021 family ID fRPN-NB, second family loop (great-greatgrandparents of proband in common) F - Spain - - - - - 1 LOVD
+?/. - c.352C>T r.(?) p.(Arg118Cys) Paternal (confirmed) ACMG likely pathogenic g.46713160C>T g.46853725C>T RP2 c.352C>T, p.(Arg118Cys) - RP2_000019 - PubMed: Rodriguez Munoz 2021 - - Germline yes - - - - DNA SEQ-NG blood custom panel of 117 IRD-associated genes retinal disease RPN-574 PubMed: Rodriguez Munoz 2021 family ID fRPN-NB, second family loop (great-greatgrandparents of proband in common) F - Spain - - - - - 1 LOVD
+?/. - c.352C>T r.(?) p.(Arg118Cys) Maternal (confirmed) ACMG likely pathogenic g.46713160C>T g.46853725C>T RP2 c.352C>T, p.(Arg118Cys) - RP2_000019 - PubMed: Rodriguez Munoz 2021 - - Germline yes - - - - DNA SEQ-NG blood custom panel of 117 IRD-associated genes retinal disease RPN-576 PubMed: Rodriguez Munoz 2021 family ID fRPN-NB, second family loop (great-greatgrandparents of proband in common) M - Spain - - - - - 1 LOVD
+?/. - c.352C>T r.(?) p.(Arg118Cys) Maternal (confirmed) ACMG likely pathogenic g.46713160C>T g.46853725C>T RP2 c.352C>T, p.(Arg118Cys) - RP2_000019 - PubMed: Rodriguez Munoz 2021 - - Germline yes - - - - DNA SEQ-NG blood custom panel of 117 IRD-associated genes retinal disease RPN-643 PubMed: Rodriguez Munoz 2021 family ID fRPN-NB, second family loop (great-greatgrandparents of proband in common) F - Spain - - - - - 1 LOVD
+?/. - c.352C>T r.(?) p.(Arg118Cys) Paternal (confirmed) ACMG likely pathogenic g.46713160C>T g.46853725C>T RP2 c.352C>T, p.(Arg118Cys) - RP2_000019 - PubMed: Rodriguez Munoz 2021 - - Germline yes - - - - DNA SEQ-NG blood custom panel of 117 IRD-associated genes retinal disease RPN-644 PubMed: Rodriguez Munoz 2021 family ID fRPN-NB, second family loop (great-greatgrandparents of proband in common) F - Spain - - - - - 1 LOVD
+?/. - c.352C>T r.(?) p.(Arg118Cys) Maternal (inferred) ACMG likely pathogenic g.46713160C>T g.46853725C>T RP2 c.352C>T, p.(Arg118Cys) - RP2_000019 - PubMed: Rodriguez Munoz 2021 - - Germline yes - - - - DNA SEQ-NG blood custom panel of 117 IRD-associated genes retinal disease RPN-578 PubMed: Rodriguez Munoz 2021 family ID fRPN-NB, second family loop (great-greatgrandparents of proband in common) M - Spain - - - - - 1 LOVD
+?/. - c.352C>T r.(?) p.(Arg118Cys) Maternal (inferred) ACMG likely pathogenic g.46713160C>T g.46853725C>T RP2 c.352C>T, p.(Arg118Cys) - RP2_000019 - PubMed: Rodriguez Munoz 2021 - - Germline yes - - - - DNA SEQ-NG blood custom panel of 117 IRD-associated genes retinal disease RPN-481 PubMed: Rodriguez Munoz 2021 family ID fRPN-NB, second family loop (great-greatgrandparents of proband in common) M - Spain - - - - - 1 LOVD
+?/. - c.352C>T r.(?) p.(Arg118Cys) Paternal (confirmed) ACMG likely pathogenic g.46713160C>T g.46853725C>T RP2 c.352C>T, p.(Arg118Cys) - RP2_000019 - PubMed: Rodriguez Munoz 2021 - - Germline yes - - - - DNA SEQ-NG blood custom panel of 117 IRD-associated genes retinal disease RPN-573 PubMed: Rodriguez Munoz 2021 family ID fRPN-NB, second family loop (great-greatgrandparents of proband in common) F - Spain - - - - - 1 LOVD
+/. 2 c.352C>T r.(?) p.(Arg118Cys) Unknown ACMG pathogenic g.46713160C>T g.46853725C>T RP2 c.352C>T, p.(R118C) - RP2_000019 - PubMed: Xiao-2021 - - Unknown yes - - - - DNA SEQ-NG blood gene panel testing retinal disease 191024 PubMed: Xiao-2021 - F - China - - - - - 1 LOVD
+/. 2 c.352C>T r.(?) p.(Arg118Cys) Unknown - pathogenic g.46713160C>T - c.352CGT>TGT - RP2_000019 - PubMed: Jayasundra-2010 - - Germline - - - - - DNA SEQ, PCR blood - retinal disease F:933 PubMed: Jayasundra-2010 - - - - - - - - - 1 LOVD
+/. 2 c.352C>T r.(?) p.(Arg118Cys) Paternal (confirmed) - pathogenic g.46713160C>T - c.352C>T - RP2_000019 - PubMed: Panneman 2023 - - Unknown - - - - - DNA SEQ - RP-LCA smMIPs sequencing RP - PubMed: Panneman 2023 - M - - - - - - - 1 Daan Panneman
+/. - c.352C>T r.(?) p.(Arg118Cys) Maternal (confirmed) ACMG pathogenic g.46713160C>T g.46853725C>T - - RP2_000019 ACMG PP3, PM2, PM5, PM1_SUPPORTING, PP5_STRONG, PS4_MODERATE PubMed: Weisschuh 2024 - - Germline/De novo (untested) - - - - - DNA SEQ-NG - WGS ? XRP-184 PubMed: Weisschuh 2024 patient, no family history M - Germany - - - - - 1 Johan den Dunnen
+/. - c.352C>T r.(?) p.(Arg118Cys) Unknown ACMG pathogenic g.46713160C>T g.46853725C>T - - RP2_000019 ACMG PP3, PM2, PM5, PM1_SUPPORTING, PP5_STRONG, PS4_MODERATE PubMed: Weisschuh 2024 - - Germline - - - - - DNA SEQ-NG - WGS ? XRP-233 PubMed: Weisschuh 2024 family, 2 affected M - Germany - - - - - 2 Johan den Dunnen
Legend   How to query  


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