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.

459 entries on 5 pages. Showing entries 1 - 100.
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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.-446_*2878del r.spl p.(?) Unknown - likely pathogenic g.46696090_46742082del g.46836655_46882647del RP2 chrX:46696090_46742082del - RP2_000156 size 45992 bp, hemizygous PubMed: Zampaglione 2020 - - Unknown ? - - - - DNA SEQ-NG-I, PCRq blood - retinal disease OGI2919_004504 PubMed: Zampaglione 2020 - ? - - - - - - - 1 LOVD
+/. 1_2i c.(?_-189)_(768+1_769-1)del r.spl? p.? Maternal (inferred) - pathogenic (recessive) g.46696347_46713577del - - - RP2_000046 Variant Error [EMISMATCH/EUNCERTAIN]: This transcript variant has an error. Please fix this entry and then remove this message. - - - Germline - - - - - DNA SEQ-NG-I blood - RD - - - M - Mexico - - - - - 1 Juan Carlos Zenteno
+?/. 1_5 c.0 r.0 p.0 Maternal (inferred) - likely pathogenic g.(?_46696347_46741793_?)del - All gen deletion - RP2_000155 - PubMed: de Castro-Miró-2014 - - Germline - - - - - DNA arraySNP - RD-xip retinal disease 20NCE PubMed: de Castro-Miró-2014 - M - - - - - - - 3 LOVD
+?/. - c.-2C>T r.spl p.(?) Unknown - likely pathogenic g.46696534C>T g.46837099C>T c.-2C>T - RP2_000001 heterozygous PubMed: Gao 2019 - - Germline ? - - - - DNA SEQ-NG - - retinal disease RD18083946_A PubMed: Gao 2019 - ? - China - - - - - 1 LOVD
+?/. - c.-2C>T r.spl p.(?) Unknown - likely pathogenic g.46696534C>T g.46837099C>T c.-2C>T - RP2_000001 heterozygous PubMed: Gao 2019 - - Germline ? - - - - DNA SEQ-NG - - retinal disease RD18083947_A PubMed: Gao 2019 - ? - China - - - - - 1 LOVD
+?/. - c.(?_-1)_(102+1_103-1)del r.? p.? Unknown ACMG VUS g.(?_46696535)_(46696638_46712910)del g.(?_46837100)_(46837203_46853475)del 1-?_102+?del - RP2_000138 - - - - Germline/De novo (untested) - - - - - DNA SEQ-NG-I - - RP IR_GH_0132 - - M - Korea, South (Republic) - - - - - 1 Jinu Han
+/. _1_5_ c.(?_-1)_(*1_?)del r.0 p.0 Maternal (confirmed) - pathogenic g.(?_46696535)_(46739205_?)del - all gene deletion - RP2_000010 - PubMed: de Castro-Miró 2014 - - Germline yes - - - - DNA SEQ-NG-I Whole blood - retinal disease - PubMed: de Castro-Miró 2014 - M no Spain - - - - - 1 Marta de Castro-Miró
+/. _1_1i c.-189_(102+1_103-1){0} r.0? p.0? Parent #1 - pathogenic g.(?_46696347)_(46696638_46712910)del g.(?_46836912)_(46837203_46853475)del - - RP2_000066 - PubMed: Bader 2003 - - Germline - - - - - DNA SEQ - - retinal disease RP04/1759 PubMed: Bader 2003 - M - Germany - - - - - 1 Johan den Dunnen
+/. _1_2i c.-189_(768+1_769-1){0} r.0? p.0? Maternal (inferred) ACMG pathogenic g.(?_46696347)_(46713577_46719422)del g.(?_46836912)_(46854142_46859987)del del exon 1-2 - RP2_000064 ACMG PVS1, PM2, PP1, PP4 PubMed: Zenteno 2020 - - Germline - 1/143 cases - - - DNA SEQ, SEQ-NG - 199 gene panel retinal disease 2637 PubMed: Zenteno 2020 family M - Mexico - - - - - 1 Johan den Dunnen
+?/. - c.? r.? p.? Unknown - likely pathogenic g.? - del ex2 - USP9X_000005 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 200 PubMed: Stone 2017 1 affected M - (United States) - - - - - 1 LOVD
+?/. - c.? r.? p.? Unknown - likely pathogenic g.? - del ex2 - USP9X_000005 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 201 PubMed: Stone 2017 1 affected M - (United States) - - - - - 1 LOVD
+/. - c.? r.(?) p.? Maternal (inferred) - pathogenic (dominant) g.? - del15.2kb_incl_ex4 (Truncated) - USP9X_000005 - PubMed: Prokisch 2007 - - Germline - - - - - DNA SEQ bood - retinal disease - PubMed: Prokisch 2007 - - - Denmark Danish - - - - 1 LOVD
+/. - c.? r.? p.? Parent #1 - pathogenic (dominant) g.? - del ex4-flanking - USP9X_000005 - PubMed: Daiger 2014 - - Germline - - - - - DNA SEQ-NG - WES retinal disease RFS021 PubMed: Daiger 2014 - - - United States - - - - - 1 LOVD
+/. - c.? r.(?) p.? Unknown - pathogenic g.? - delEX04-flanking - USP9X_000005 - PubMed: Churchill-2013 - - Germline - - - - - DNA SEQ blood Subcloning retinal disease - PubMed: Churchill-2013 - - - United States - - - - - 1 LOVD
+/. - c.? r.(?) p.? Unknown - pathogenic g.? - p.RP2-E20X - USP9X_000005 - PubMed: Schorderet-2013 - - Germline yes - - - - DNA SEQ-NG, SEQp blood targeted exon capture/IROme assay retinal disease - PubMed: Schorderet-2013 - - - Switzerland Swiss, Algerian or Tunisian - - - - 1 LOVD
-/. 2 c.? r.(?) p.? Maternal (confirmed) - benign g.46712913A>T - 105A>T - USP9X_000005 - PubMed: Thiseton-2000 - - Germline - - - - - DNA SSCA, SEQ, PCR blood - retinal disease 1 PubMed: Thiseton-2000 - - - (United Kingdom (Great Britain)) British - - - - 1 LOVD
+?/. - c.? r.? p.? Unknown ACMG likely pathogenic g.46634266_46989306del - - - USP9X_000005 ACMG PM2, PVS1 PubMed: Weisschuh 2024 - - Germline - - - - - DNA SEQ-NG - WGS ? ARRP-407 PubMed: Weisschuh 2024 family, 2 affected M - Germany - - - - - 2 Johan den Dunnen
+/. - c.? r.? p.? Unknown ACMG pathogenic g.(46737528_46737831)_46745341delins[NC_000002.11:g.(158406216_158406544)_158695305;GTTG] - - - USP9X_000005 ACMG PM2, PVS1, PP5 PubMed: Weisschuh 2024 - - Germline - - - - - DNA SEQ-NG - WGS ? XRP-239 PubMed: Weisschuh 2024 family, >3 affected M - Germany - - - - - 4 Johan den Dunnen
+/. - c.? r.? p.? Unknown ACMG pathogenic g.46694894_46708019del - - - USP9X_000005 ACMG PM2, PVS1, PP5 PubMed: Weisschuh 2024 - - Germline/De novo (untested) - - - - - DNA SEQ-NG - WGS ? XRP-240 PubMed: Weisschuh 2024 patient, no family history M - Germany - - - - - 1 Johan den Dunnen
+?/. 1 c.1A>G r.(?) p.(Met1?) Paternal (inferred) - pathogenic (recessive) g.46696536A>G g.46837101A>G - - RP2_000047 - - - - Germline - - - - - DNA SEQ-NG-I blood - RD - - - F - Mexico - - - - - 1 Juan Carlos Zenteno
+/. - c.1A>G r.(?) p.(Met1?) Maternal (inferred) ACMG pathogenic g.46696536A>G g.46837101A>G - - RP2_000047 ACMG PVS1, PS*, PM2, PP4 PubMed: Zenteno 2020 - - Germline - 1/143 cases - - - DNA SEQ, SEQ-NG - 199 gene panel retinal disease 3533 PubMed: Zenteno 2020 family M - Mexico - - - - - 1 Johan den Dunnen
+?/. 1 c.1A>G r.(?) p.(Met1?) Maternal (inferred) - likely pathogenic g.46696536A>G g.46837101A>G - - RP2_000047 - PubMed: Martin-Merida 2018 - - Germline yes 1/258 - - - DNA ? - various screening techniques within publication, not mentioned which particular individual had which techniques: SSCA, DGGE, arraySNP, SEQ-NG, WES retinal disease RP-1313 PubMed: Martin-Merida 2018 - - - Spain - - - - - 1 LOVD
+?/. - c.2T>C r.(?) p.(Met1?) Unknown - likely pathogenic g.46696537T>C g.46837102T>C - - RP2_000113 - PubMed: Patel 2016 - - Germline - - - - - DNA SEQ-NG - gene panel retinal disease 12DG2227 PubMed: Patel 2016 - - - Saudi Arabia - - - - - 1 LOVD
+?/. - c.5G>T r.(?) p.(Gly2Val) Parent #1 - likely pathogenic (recessive) g.46696540G>T g.46837105G>T - - RP2_000080 - PubMed: Zhou 2018 - - Germline - - - - - DNA SEQ-NG - WES retinal disease 690347 PubMed: Zhou 2018 - M - China - - - - - 1 LOVD
+/. 1 c.5G>T r.(?) p.(Gly2Val) Parent #1 - pathogenic g.46696540G>T - c.5G>T - RP2_000080 - PubMed: Pelletier 2007 - - Germline - - - - - DNA SEQ blood - retinal disease - PubMed: Pelletier 2007 1 family with familial case of RP with nonambiguous X-linked transmission F - France French - - - - 1 Julia Lopez
+?/. 1 c.5G>T r.(?) p.(Gly2Val) Maternal (inferred) - likely pathogenic g.46696540G>T - c.5G>T - RP2_000080 - PubMed: Zhou-2011 - - Unknown - - - - - DNA SEQ blood WES retinal disease - PubMed: Zhou 2011 - M - China - - - - - 1 LOVD
+/. 1 c.8G>C r.(?) p.(Cys3Ser) Maternal (inferred) - pathogenic g.46696543G>C - c.8G>C (p.Cys3Ser) - RP2_000140 - PubMed: Branham-2012 - - Germline - - - - - DNA SEQ, PCR blood - retinal disease - PubMed: Branham-2012 - M - - - - - - - 1 LOVD
+/. 1 c.8G>C r.(?) p.(Cys3Ser) Unknown - pathogenic g.46696543G>C - c.8TGC>TCC - RP2_000140 - PubMed: Jayasundra-2010 - - Germline - - - - - DNA SEQ, PCR blood - retinal disease F:1090 PubMed: Jayasundra-2010 - - - - - - - - - 1 LOVD
+?/. - c.8G>C r.(?) p.(Cys3Ser) Unknown - likely pathogenic g.46696543G>C - RP2(NM_006915.2):c.8G>C (p.(Cys3Ser)) - RP2_000140 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.8G>C r.(?) p.(Cys3Ser) Unknown - pathogenic g.46696543G>C g.46837108G>C - - RP2_000140 variants reported seperately, unknown if mono-allelic or bi-allelic PubMed: Retterer 2016 - - Unknown - - - - - DNA SEQ, SEQ-NG - WES ? - PubMed: Retterer 2016 analysis proband (1/3040); possible combination of variants not reported - - United States - - - - - 1 Johan den Dunnen
+/. - c.9_11del r.(?) p.(Phe5del) Maternal (inferred) - pathogenic g.46696544_46696546del - X:46696543GCTT>G ENST00000218340.3:c.14_16delTCT (Phe5del) - RP2_000081 - PubMed: Carss 2017 - - Germline - - - - - DNA SEQ-NG - WGS retinal disease G001024 PubMed: Carss 2017 - M - United Kingdom (Great Britain) Europe - - - - 1 LOVD
+?/. - c.14_16del r.(?) p.(Phe5del) Unknown - likely pathogenic g.46696549_46696551del g.46837114_46837116del c.9_11delCTT - RP2_000093 - PubMed: Huang 2018 - - Germline - - - - - DNA SEQ-NG - 283-gene panel retinal disease RP027 PubMed: Huang 2018 - - - - - - - - - 1 LOVD
+/. - c.14_16del r.(?) p.(Phe5del) Unknown - pathogenic (dominant) g.46696549_46696551del g.46837114_46837116del c.9_11del - RP2_000093 - PubMed: Fernandez-San Jose 2015 - - Germline - - - - - DNA SEQ-NG - 73-gene panel retinal disease RP1682 PubMed: Fernandez-San Jose 2015 family, 2 affected - - Spain - - - - - 2 LOVD
+/. 1 c.14_16del r.(?) p.(Phe5del) Unknown - pathogenic g.46696548_46696550del - c.13_15del3 - RP2_000093 - PubMed: Neidhardt 2008 - - Germline - - - - - DNA PCR blood - retinal disease - PubMed: Neidhardt 2008 Geographic origin either Germany, Netherlands, Denmark or Switzerland - - - - - - - - 1 LOVD
+?/. 1 c.14_16del r.(?) p.(Phe5del) Paternal (inferred) - likely pathogenic g.46696549_46696551del g.46837114_46837116del - - RP2_000093 - PubMed: Martin-Merida 2018 - - Germline yes 1/258 - - - DNA ? - various screening techniques within publication, not mentioned which particular individual had which techniques: SSCA, DGGE, arraySNP, SEQ-NG, WES retinal disease RP-1682 PubMed: Martin-Merida 2018 - - - Spain - - - - - 1 LOVD
+?/. - c.14_16del r.(?) p.(Phe5del) Maternal (inferred) - likely pathogenic g.46696549_46696551del g.46837114_46837116del RP2 c.14_16delTCT, p.Phe5del - RP2_000093 hemizygous PubMed: Turro 2020 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG-I blood whole genome sequencing retinal disease G001024 PubMed: Turro 2020 only individuals with mutations in retinal disease genes from this publication were inserted into LOVD ? - (United Kingdom (Great Britain)) - - - - - 1 LOVD
+?/. 1 c.14_16del r.(?) p.(Phe5del) Maternal (inferred) - likely pathogenic (maternal) g.46696549_46696551del - c.9_11delCTT - RP2_000093 - PubMed: Liu-2020 - - Germline - - - - - DNA SEQ-NG - hereditary eye disease enrichment panel (HEDEP) retinal disease - PubMed: Liu-2020 - M - - - - - - - 1 LOVD
+?/. - c.14_16del r.(?) p.(Phe5del) Maternal (inferred) ACMG likely pathogenic g.46696549_46696551del g.46837114_46837116del RP2 c.[14_16del];[0], V1: c.14_16delTCT, (p.Phe5del) - RP2_000093 hemizygous PubMed: Chen 2021 - - Unknown ? - - - - DNA SEQ-NG blood 212 inherited retinal disease-related genes retinal disease F146 PubMed: Chen 2021 - ? - Taiwan - - - - - 1 LOVD
+/. - c.14_16del r.(?) p.(Phe5del) Parent #1 ACMG pathogenic g.46696549_46696551del g.46837114_46837116del - - RP2_000093 ACMG PM2, PM4, PP5_STRONG, PS4_MODERATE PubMed: Weisschuh 2024 437942 - Germline - - - - - DNA SEQ-NG - WGS ? CRD-844-1 PubMed: Weisschuh 2024 family, >3 affected F - Germany - - - - - 4 Johan den Dunnen
+/. - c.14_16del r.(?) p.(Phe5del) Maternal (inferred) ACMG pathogenic g.46696549_46696551del g.46837114_46837116del - - RP2_000093 ACMG PM2, PM4, PP5_STRONG, PS4_MODERATE PubMed: Weisschuh 2024 437942 - Germline - - - - - DNA SEQ-NG - WGS ? CRD-844-2 PubMed: Weisschuh 2024 relative M - Germany - - - - - 1 Johan den Dunnen
+/. - c.14_16del r.(?) p.(Phe5del) Maternal (confirmed) ACMG pathogenic g.46696549_46696551del g.46837114_46837116del - - RP2_000093 ACMG PM2, PM4, PP5_STRONG, PS4_MODERATE PubMed: Weisschuh 2024 - - Germline/De novo (untested) - - - - - DNA SEQ-NG - WGS ? XRP-255 PubMed: Weisschuh 2024 patient, no family history M - Germany - - - - - 1 Johan den Dunnen
+/. - c.14_16del r.(?) p.(Phe5del) Parent #1 - pathogenic g.46696549_46696551del g.46837114_46837116del 14_16delTCT - RP2_000093 - PubMed: Midgley 2024 - rs1556313414 Germline - - - - - DNA SEQ-NG - gene panel retinal disease Pat58 PubMed: Midgley 2024 - M - South Africa Africa-indigenous - - - - 1 Johan den Dunnen
+?/. - c.14_16delTCT r.(?) p.(Phe5del) Maternal (confirmed) - likely pathogenic g.46696549_46696551del g.46837114_46837116del RP2 c.[14_16del];[0]; p.(Phe5del) - RP2_000093 hemizygous PubMed: Chen 2021 - - Germline yes Taiwan Biobank: 0; GnomAD_exome_East: 0; GnomAD_All: 0 - - - DNA SEQ-NG - targeted 212 IRD-related genes retinal disease F146 PubMed: Chen 2021 - - - Taiwan - - - - - 1 LOVD
+/. 1 c.16_18del r.(?) p.(Ser6del) Maternal (inferred) - pathogenic g.46696551_46696553del g.46837116_46837118del TCCdel Ser6del - RP2_000023 - PubMed: Schwahn 1998, OMIM:var0001 - rs137852284 Germline - - - - - DNA SEQ, SSCA - - XLRP 09697692-Pat10004 PubMed: Schwahn 1998 - M - - - - - - - 1 Johan den Dunnen
+/. - c.16_18del r.(?) p.(Ser6del) Maternal (confirmed) - pathogenic (recessive) g.46696551_46696553del - delSer6 - RP2_000023 - PubMed: Rosenberg 1999 - - Germline yes - - - - DNA SEQ - - retinal disease FamRP200322 PubMed: Rosenberg 1999 4-generation family, 4 affected males, 3 non-affected carrier females M - Denmark - - - - - 4 Johan den Dunnen
+/. 1 c.16_18del r.(?) p.(Ser6del) Maternal (inferred) - pathogenic (dominant) g.46696551_46696553del - c.16_18del (p.S6del) - RP2_000023 - PubMed: Prokisch 2007 - - Germline - - - - - DNA SEQ bood - retinal disease - PubMed: Prokisch 2007 - - - Denmark Danish - - - - 1 LOVD
+/. 1 c.16_18del r.(?) p.(Ser6del) Maternal (inferred) - pathogenic (dominant) g.46696551_46696553del - c.16_18del (p.S6del) - RP2_000023 - PubMed: Prokisch 2007 - - Germline - - - - - DNA SEQ bood - retinal disease - PubMed: Prokisch 2007 - - - Denmark Danish - - - - 1 LOVD
+/. 1 c.16_18del r.(?) p.(Ser6del) Maternal (inferred) - pathogenic (dominant) g.46696551_46696553del - c.16_18del (p.S6del) - RP2_000023 - PubMed: Prokisch 2007 - - Germline - - - - - DNA SEQ bood - retinal disease - PubMed: Prokisch 2007 - - - Denmark Danish - - - - 1 LOVD
+/. 1 c.16_18del r.(?) p.(Ser6del) Maternal (inferred) - pathogenic (dominant) g.46696551_46696553del - c.16_18del (p.S6del) - RP2_000023 - PubMed: Prokisch 2007 - - Germline - - - - - DNA SEQ bood - retinal disease - PubMed: Prokisch 2007 - - - Denmark Danish - - - - 1 LOVD
+/. - c.16_18del r.(?) p.(Ser6del) Unknown ACMG pathogenic g.46696551_46696553del g.46837116_46837118del RP2 c.16_18del, p.(Ser6del), RP1 c.1126C>T, p.(Arg376*) - RP2_000023 - PubMed: Jespersgaar 2019 - - Germline ? - - - - DNA SEQ-NG-I blood 125 genes associated with inherited retinal disorders, see paper supplemental data retinal disease 246 PubMed: Jespersgaar 2019 - ? - Denmark - - - - - 1 LOVD
+/. - c.16_18del r.(?) p.(Ser6del) Unknown ACMG pathogenic g.46696551_46696553del g.46837116_46837118del RP2 c.16_18del, p.(Ser6del) - RP2_000023 - PubMed: Jespersgaar 2019 - - Germline ? - - - - DNA SEQ-NG-I blood 125 genes associated with inherited retinal disorders, see paper supplemental data retinal disease 249 PubMed: Jespersgaar 2019 - ? - Denmark - - - - - 1 LOVD
+?/. 1 c.22A>T r.(?) p.(Arg8*) Maternal (inferred) - likely pathogenic (maternal) g.46696557A>T - c.22A>T - RP2_000169 - PubMed: Liu-2020 - - Germline - - - - - DNA SEQ-NG - hereditary eye disease enrichment panel (HEDEP) retinal disease - PubMed: Liu-2020 - F - - - - - - - 1 LOVD
+/. 1 c.28A>T r.(?) p.(Lys10*) Maternal (inferred) - pathogenic (recessive) g.46696563A>T - c.28A>T:p.K10X - RP2_000174 - PubMed: Numa-2020 - - Germline - - - - - DNA SEQ, SEQ-NG - - retinal disease - PubMed: Numa 2020 - F - Japan Japanese - - - - 1 LOVD
+?/. - c.40del r.(?) p.(Glu14Serfs*32) Parent #1 - likely pathogenic g.46696575del g.46837140del RP2, variant 1: c.40del/p.E14Sfs*32 - RP2_000159 solved, hemizygous PubMed: Weisschuh 2020 - - Germline yes - - - - DNA SEQ-NG blood RET4 targeted sequencing panel - see paper retinal disease 360 PubMed: Weisschuh 2020 Filing key number: 120, X-linked retinitis pigmentosa, no patient Ids, consecutive numbers given M - Germany - - - - - 1 LOVD
+/. - c.43del r.(?) p.(Ser15Argfs*31) Maternal (inferred) - pathogenic g.46696578del - X:46696577GT>G ENST00000218340.3:c.43delT (Ser15ArgfsTer31) - RP2_000082 - PubMed: Carss 2017 - - Germline - - - - - DNA SEQ-NG - WGS retinal disease W000329 PubMed: Carss 2017 - M - United Kingdom (Great Britain) Europe - - - - 1 LOVD
+?/. - c.43del r.(?) p.(Ser15Argfs*31) Maternal (inferred) - likely pathogenic g.46696578del g.46837143del RP2 c.43delT, p.Ser15ArgfsTer31 - RP2_000082 hemizygous PubMed: Turro 2020 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG-I blood whole genome sequencing retinal disease W000329 PubMed: Turro 2020 only individuals with mutations in retinal disease genes from this publication were inserted into LOVD ? - - - - - - - 1 LOVD
+/. 1_5 c.46_*62del r.(?) p.(Arg16*) Parent #1 - pathogenic g.46696581_46739266del - c.(?_46)_( * 62_?) - RP2_000101 - PubMed: Pelletier 2007 - - Germline - - - - - DNA SEQ blood - retinal disease - PubMed: Pelletier 2007 1 family with familial case of RP with nonambiguous X-linked transmission F - France French - - - - 1 Julia Lopez
+/. - c.49C>T r.(?) p.(Pro17Ser) Maternal (inferred) - pathogenic (recessive) g.46696584C>T g.46837149C>T - - RP2_000117 - PubMed: Xu 2014 - - Germline/De novo (untested) - - - - - DNA SEQ-NG - gene panel retinal disease RP263 PubMed: Xu 2014 patient M - China - - - - - 1 LOVD
+?/. - c.49C>T r.(?) p.(Pro17Ser) Unknown ACMG likely pathogenic g.46696584C>T g.46837149C>T RP2 c.49C>T, p.(Pro17Ser) - RP2_000117 - PubMed: Jespersgaar 2019 - - Germline ? - - - - DNA SEQ-NG-I blood 125 genes associated with inherited retinal disorders, see paper supplemental data retinal disease 252 PubMed: Jespersgaar 2019 - ? - Denmark - - - - - 1 LOVD
?/. - c.58G>C r.(?) p.(Glu20Gln) Unknown ACMG VUS g.46696593G>C g.46837158G>C - - RP2_000208 ACMG PM2 PubMed: Weisschuh 2024 - - Germline - - - - - DNA SEQ-NG - WGS ? STGD-443 PubMed: Weisschuh 2024 patient, no family history F - Germany - - - - - 1 Johan den Dunnen
+?/. - c.58G>T r.(?) p.(Glu20*) Parent #1 - likely pathogenic g.46696593G>T g.46837158G>T RP2, variant 1: c.58G>T/p.E20* - RP2_000160 solved, hemizygous PubMed: Weisschuh 2020 - - Germline yes - - - - DNA SEQ-NG blood RET8 targeted sequencing panel - see paper retinal disease 116 PubMed: Weisschuh 2020 Filing key number: 52, X-linked retinitis pigmentosa, no patient Ids, consecutive numbers given M - Germany - - - - - 1 LOVD
+?/. - c.58G>T r.(?) p.(Glu20*) Parent #1 - likely pathogenic g.46696593G>T g.46837158G>T RP2, variant 1: c.58G>T/p.E20* - RP2_000160 solved, hemizygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ-NG blood RET6 targeted sequencing panel - see paper retinal disease 598 PubMed: Weisschuh 2020 Filing key number: 215, X-linked retinitis pigmentosa, no patient Ids, consecutive numbers given F - Germany - - - - - 1 LOVD
+?/. 1 c.58G>T r.(?) p.(Glu20*) Maternal (inferred) - likely pathogenic (maternal) g.46696593G>T - c.58G>T - RP2_000160 - PubMed: Liu-2020 - - Germline - - - - - DNA SEQ-NG - hereditary eye disease enrichment panel (HEDEP) retinal disease - PubMed: Liu-2020 - M - - - - - - - 1 LOVD
+?/. 1 c.58G>T r.(?) p.(Glu20*) Maternal (inferred) - likely pathogenic (maternal) g.46696593G>T - c.58G>T - RP2_000160 - PubMed: Liu-2020 - - Germline - - - - - DNA SEQ-NG - hereditary eye disease enrichment panel (HEDEP) retinal disease - PubMed: Liu-2020 - M - - - - - - - 1 LOVD
+/. 1 c.76C>T r.(?) p.(Gln26*) Maternal (inferred) - pathogenic g.46696611C>T g.46837176C>T CAG>TAG codon26 - RP2_000024 - PubMed: Schwahn 1998, OMIM:var0002 - rs104894925 Germline - - - - - DNA SEQ, SSCA - - XLRP 09697692-Pat2553 PubMed: Schwahn 1998 - M - - - - - - - 1 Johan den Dunnen
+/. - c.76C>T r.(?) p.(Gln26*) Parent #1 - pathogenic (!) g.46696611C>T - Gln26stop - RP2_000024 - PubMed: Rosenberg 1999 - - Germline yes - - - - DNA SEQ - - retinal disease FamRP200307 PubMed: Rosenberg 1999 5-generation family, 5 affected males, 3 affected/2 non-affected carrier females F;M - Denmark - - - - - 8 Johan den Dunnen
+/. 1 c.76C>T r.(?) p.(Gln26*) Maternal (inferred) - pathogenic (dominant) g.46696611C>T - c.76C>T (p.Q26X) - RP2_000024 - PubMed: Prokisch 2007 - - Germline - - - - - DNA SEQ bood - retinal disease - PubMed: Prokisch 2007 - - - Denmark Danish - - - - 1 LOVD
+/. 1 c.76C>T r.(?) p.(Gln26*) Maternal (inferred) - pathogenic (dominant) g.46696611C>T - c.76C>T (p.Q26X) - RP2_000024 - PubMed: Prokisch 2007 - - Germline - - - - - DNA SEQ bood - retinal disease - PubMed: Prokisch 2007 - - - Denmark Danish - - - - 1 LOVD
+/. 1 c.76_77dup r.(?) p.(Gln26Hisfs*21) Maternal (inferred) - pathogenic g.46696611_46696612dup g.46837176_46837177dup 77/78insCA - RP2_000029 - PubMed: Mears 1999 - - Germline yes - - - - DNA SEQ - - XLRP 10053026-PatA2240 PubMed: Mears 1999 - M - United States - - - - - 1 Johan den Dunnen
+/. 1 c.76_77dup r.(?) p.(Gln26Hisfs*21) Unknown - pathogenic g.46696611_46696612dup - c.77insCA - RP2_000029 - PubMed: Jayasundra-2010 - - Germline - - - - - DNA SEQ, PCR blood - retinal disease F:148 PubMed: Jayasundra-2010 - - - - - - - - - 1 LOVD
+/. 1 c.81C>G r.(?) p.(Tyr27*) Parent #1 - pathogenic g.46696616C>G g.46837181C>G 82C>G - RP2_000067 - PubMed: Breuer 2002 - - Germline yes - - - - DNA SEQ - - retinal disease 1645 PubMed: Breuer 2002 - M - United States - - - - - 1 LOVD
+/. - c.81C>G r.(?) p.(Tyr27*) Maternal (confirmed) - pathogenic g.46696616C>G - 82C>G - RP2_000067 - PubMed: Andreasson 2003 - - Germline yes - - - - DNA SEQ - - retinal disease Fam641 PubMed: Andreasson 2003 3-generation family, 3 affected males, 3 unaffected carrier females M - Sweden - - - - - 3 Johan den Dunnen
+/. - c.87G>A r.(?) p.(Trp29*) Both (homozygous) - pathogenic g.46696622G>A g.46837187G>A - - RP2_000038 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - - Germline - 1/1203 cases with retinitis pigmentosa - - - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1203 retinitis pigmentosa cases - - Japan - - - - - 1 Yoshito Koyanagi
?/. - c.89A>G r.(?) p.(Asp30Gly) Unknown - VUS g.46696624A>G g.46837189A>G RP2(NM_006915.2):c.89A>G (p.(Asp30Gly)), RP2(NM_006915.3):c.89A>G (p.D30G) - RP2_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.89A>G r.(?) p.(Asp30Gly) Unknown - likely benign g.46696624A>G g.46837189A>G RP2(NM_006915.2):c.89A>G (p.(Asp30Gly)), RP2(NM_006915.3):c.89A>G (p.D30G) - RP2_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.97G>T r.(?) p.(Glu33*) Maternal (inferred) ACMG pathogenic g.46696632G>T g.46837197G>T RP2 c.[97G>T];[0], V1: c.97G>T, (p.Glu33Ter) - RP2_000173 hemizygous PubMed: Chen 2021 - - Unknown ? - - - - DNA SEQ-NG blood 212 inherited retinal disease-related genes retinal disease F198 PubMed: Chen 2021 - ? - Taiwan - - - - - 1 LOVD
+/. - c.97G>T r.(?) p.(Glu33Ter) Maternal (confirmed) - pathogenic g.46696632G>T g.46837197G>T RP2 c.[97G>T];[0]; p.(Glu33Ter) - RP2_000173 hemizygous PubMed: Chen 2021 - - Germline yes Taiwan Biobank: 0; GnomAD_exome_East: 0; GnomAD_All: 0 - - - DNA SEQ-NG - targeted 212 IRD-related genes retinal disease F198 PubMed: Chen 2021 - - - Taiwan - - - - - 1 LOVD
+?/. - c.100_102del r.(?) p.(Lys34del) Unknown ACMG VUS g.46696635_46696637del .46837200_46837202del - - RP2_000137 - - - - Germline/De novo (untested) - - - - - DNA SEQ-NG-I - - RP IR_GS_0029 - - F - Korea, South (Republic) - - - - - 1 Jinu Han
+?/. - c.102G>A r.spl p.? Parent #1 - likely pathogenic g.46696637G>A g.46837202G>A - - RP2_000087 effect on splicing predicted from mini-gene splicing assay PubMed: Soens 2017 - - Germline - - - - - DNA SEQ - - retinal disease JMS_011 PubMed: Soens 2017 possible duplicate - - - - - - - - 1 LOVD
+/. - c.102G>A r.(=) p.(=) Unknown ACMG likely pathogenic g.46696637G>A - - - RP2_000087 - Villafuerte-de la Cruz RA, et al., 2023. Submitted ClinVar-1348552 rs1556313552 Germline yes - - - - DNA SEQ-NG-I BUCCAL SWAB - retinitis pigmentosa, X-linked, and sinorespiratory infections, with/without deafness 3785275 Villafuerte-de la Cruz RA, et al., 2023. Submitted - M no Mexico Hispanic - - - none 1 Rocio Villafuerte-de la Cruz
+?/. - c.102+1G>A r.spl p.? Unknown - likely pathogenic g.46696638G>A g.46837203G>A - - RP2_000098 - PubMed: Ellingford 2016 - - Germline - - - - - DNA SEQ - 105-gene panel retinal disease 13010104 PubMed: Ellingford 2016 patient - - - - - - - - 1 LOVD
+/. 1i c.102+1G>A r.spl? p.? Unknown - pathogenic g.46696638G>A - IVS1+1G>A - RP2_000098 - PubMed: Jayasundra-2010 - - Germline - - - - - DNA SEQ, PCR blood - retinal disease F:1015 PubMed: Jayasundra-2010 - - - - - - - - - 1 LOVD
+?/. - c.102+1G>A r.spl p.? Maternal (confirmed) - likely pathogenic g.46696638G>A g.46837203G>A c.102+1G>A, p.? - RP2_000098 hemizygous PubMed: Kurata 2019 - - Germline yes - - - - DNA SEQ-NG, SEQ blood 111-gene panel targeted resequencing retinal disease Patient 8 PubMed: Kurata 2019 Family 8, Patient 8 M no Japan - - - - - 1 LOVD
+?/. - c.102+1G>A r.spl p.? Maternal (confirmed) - likely pathogenic g.46696638G>A g.46837203G>A c.102+1G>A, p.? - RP2_000098 heterozygous PubMed: Kurata 2019 - - Germline yes - - - - DNA SEQ-NG, SEQ blood 111-gene panel targeted resequencing retinal disease Carrier 11 PubMed: Kurata 2019 Family 8, Carrier 11 F no Japan - - - - - 1 LOVD
+/. - c.102+1G>T r.spl p.? Unknown ACMG pathogenic g.46696638G>T - - - RP2_000058 - PubMed: Sharon 2019 - - Germline - 1/2420 IRD families - - - DNA SEQ - - retinal disease - PubMed: Sharon 2019 1 IRD family - - Israel - - - - - 1 Global Variome, with Curator vacancy
+?/. - c.102+3A>C r.spl p.? Unknown - likely pathogenic g.46696640A>C g.46837205A>C - - RP2_000088 effect on splicing predicted from mini-gene splicing assay PubMed: Soens 2017 - - Germline - - - - - DNA SEQ - - retinal disease 3772 PubMed: Soens 2017 possible duplicate - - - - - - - - 1 LOVD
+/. 1i c.102+3A>G r.(?) p.? Parent #1 - pathogenic g.46696640A>G g.46837205A>G IVS1+3A>G - RP2_000068 - PubMed: Breuer 2002 - - Germline yes - - - - DNA SEQ - - retinal disease 115 PubMed: Breuer 2002 - M - United States - - - - - 1 LOVD
+/. 1i c.102+3A>G r.spl? p.? Unknown - pathogenic g.46696640A>G - IVS1+3A>G - RP2_000068 - PubMed: Jayasundra-2010 - - Germline - - - - - DNA SEQ, PCR blood - retinal disease F:528 PubMed: Jayasundra-2010 - - - - - - - - - 1 LOVD
+/. 1i c.102+3A>T r.spl p.? Maternal (confirmed) - pathogenic (recessive) g.46696640A>T g.46837205A>T IVS3+3A>T - RP2_000069 - PubMed: Sharon 2000, PubMed: Sharon 2003 - - Germline - - - - - DNA SEQ - - retinal disease FamD993Pat004-215 PubMed: Sharon 2000, PubMed: Sharon 2003 2-generation family, 2 affected brothers, unaffected carrier mother M - (United States) - - - - - 2 LOVD
+/. 1i c.102+146_102+147ins[AF148856.1inv;102+133_102+146] r.0 p.0 Maternal (confirmed) - pathogenic g.46696783_46696784ins[AF148856.1inv;46696770_46696783] - intron 1 L1 insertion - RP2_000028 positional cloning; 5.8kb L1-insertion flanked by 14-bp target site duplication PubMed: Schwahn 1998 - - Germline - - - - - DNA PCR, SEQ, Southern - - XLRP 09697692-Pat2967 PubMed: Schwahn 1998 - M - - - - - - - 1 Johan den Dunnen
+?/. 1i c.103-299_103-190delinsG r.(=) p.(=) Maternal (confirmed) - likely pathogenic g.46712612_46712721delinsG - c.103-299_190delinsG - RP2_000176 - Dickson 2019 (https://www.hilarispublisher.com/open-access/novel-emrp2em-gene-deletion-in-a-patient-with-bilateral-retinitis-pigmentosa-insights-of-technical-challenges-of-next-ge.pdf) - - Germline - - - - - DNA SEQ-NG, arrayCGH blood - retinal disease P1 Dickson 2019 (https://www.hilarispublisher.com/open-access/novel-emrp2em-gene-deletion-in-a-patient-with-bilateral-retinitis-pigmentosa-insights-of-technical-challenges-of-next-ge.pdf) - M - (United States) - - - - - 1 LOVD
+/. 1i c.103-2A>G r.spl? p.? Maternal (confirmed) - pathogenic g.46712909A>G - 103-2A>G - RP2_000177 - PubMed: Miano-2001 - - Germline yes 0/120 controls - - - DNA, RNA RT-PCR, SSCA, SEQ - - retinal disease xlrp-FS PubMed: Miano-2001 Also 2 female carriers confirmed M - Italy - - - - - 2 LOVD
+/. 1i c.103-2del r.spl? p.? Maternal (inferred) - pathogenic g.46712909del - c.103-2del - RP2_000170 - PubMed: Colombo-2020 - - Germline - - - - - DNA SEQ - - retinal disease - PubMed: Colombo-2020 - M no - - - - - - 1 LOVD
+?/. 2_5 c.103_1053del r.? p.? Maternal (inferred) - likely pathogenic g.46712911_46739204del - (c.103_1053del, p.Val35_Ile350del) - RP2_000133 - PubMed: Ji-2010 - - Germline - - - - - DNA PCR - - retinal disease - PubMed: Ji-2010 - M - United States Chinese - - - - 1 LOVD
+?/. 2 c.111_112insC r.(?) p.(Lys38Glnfs*11) Unknown - likely pathogenic g.46712919_46712920insC - c.111insC (p.Pro37fsX48) - RP2_000178 - PubMed: De Lin-2014 - - Germline - - - - - DNA SEQ blood - retinal disease 1 PubMed: De Lin-2014 - - - Taiwan Han Taiwanese - - - - 1 LOVD
+?/. 2 c.111_112insC r.(?) p.(Lys38Glnfs*11) Unknown - likely pathogenic g.46712919_46712920insC - c.111insC (p.Pro37fsX48) - RP2_000178 - PubMed: De Lin-2014 - - Germline - - - - - DNA SEQ blood - Healthy/Control 2 PubMed: De Lin-2014 - - - Taiwan Han Taiwanese - - - - 8 LOVD
+/. - c.115G>A r.(?) p.(Asp39Asn) Maternal (inferred) - pathogenic (recessive) g.46712923G>A g.46853488G>A - - RP2_000118 - PubMed: Xu 2014 - - Germline/De novo (untested) - - - - - DNA SEQ-NG - gene panel retinal disease RP056 PubMed: Xu 2014 patient M - China - - - - - 1 LOVD
?/. - c.127A>G r.(?) p.(Ser43Gly) Unknown - VUS g.46712935A>G g.46853500A>G - - RP2_000039 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs201111874 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
?/. 2 c.127A>G r.(?) p.(Ser43Gly) Paternal (confirmed) - VUS g.46712935A>G - c.127A>G - RP2_000039 - PubMed: Panneman 2023 - - Unknown - - - - - DNA SEQ - RP-LCA smMIPs sequencing RP - PubMed: Panneman 2023 - M - - - - - - - 1 Daan Panneman
?/. - c.155G>A r.(?) p.(Arg52His) Unknown - VUS g.46712963G>A g.46853528G>A RP2(NM_006915.2):c.155G>A (p.R52H) - RP2_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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