Full data view for gene RPGR

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

88 entries on 1 page. Showing entries 1 - 88.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

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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     

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Age at death     

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+/. - c.2405_2406del r.(?) p.(Glu802Glyfs*32) Both (homozygous) - pathogenic g.38145848_38145849del g.38286595_38286596del - - RPGR_000078 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs398122960 Germline - 4/1202 cases with retinitis pigmentosa - - - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1202 retinitis pigmentosa cases - - Japan - - - - - 4 Yoshito Koyanagi
+/. - c.2405_2406del r.(?) p.(Glu802Glyfs*32) Parent #1 - pathogenic (dominant) g.38145848_38145849del g.38286595_38286596del - - RPGR_000078 - PubMed: Zhou 2018 - - Germline - - - - - DNA SEQ-NG - WES retinal disease 690274 PubMed: Zhou 2018 - F - China - - - - - 1 LOVD
+/. - c.2405_2406del r.(?) p.(Glu802Glyfs*32) Parent #1 - pathogenic (dominant) g.38145848_38145849del g.38286595_38286596del - - RPGR_000078 - PubMed: Zhou 2018 - - Germline - - - - - DNA SEQ-NG - WES retinal disease 690716 PubMed: Zhou 2018 - M - China - - - - - 1 LOVD
+/. - c.2405_2406del r.(?) p.(Glu802Glyfs*32) Maternal (inferred) - pathogenic g.38145848_38145849del g.38286595_38286596del g.ORF15+652_653delAG (p.ORF15E217fs) - RPGR_000078 - PubMed: Andreasson 2003 - - Germline - - - - - DNA SEQ - - retinal disease Fam640 PubMed: Andreasson 2003 3-generation family, 2 affected males, 3 unaffected carrier females M - Sweden - - - - - 2 LOVD
+/. - c.2405_2406del r.(?) p.(Glu802Glyfs*32) Maternal (inferred) - pathogenic g.38145848_38145849del g.38286595_38286596del g.ORF15+652_653delAG (p.ORF15E217fs) - RPGR_000078 - PubMed: Bader 2003 - - Germline - - - - - DNA SEQ - - retinal disease family PubMed: Bader 2003 - M - Germany - - - - - 1 LOVD
+/. - c.2405_2406del r.(?) p.(Glu802Glyfs*32) Maternal (inferred) - pathogenic g.38145848_38145849del g.38286595_38286596del g.ORF15+650_651delAG (p.ORF15+T216fs) - RPGR_000078 - PubMed: Breuer 2002 - - Germline - - - - - DNA SEQ - - retinal disease patient PubMed: Breuer 2002 - M - United States - - - - - 1 LOVD
+/. - c.2405_2406del r.(?) p.(Glu802Glyfs*32) Maternal (inferred) - pathogenic g.38145848_38145849del g.38286595_38286596del g.ORF15+650_651delAG (p.ORF15+T216fs) - RPGR_000078 - PubMed: Breuer 2002 - - Germline - - - - - DNA SEQ - - retinal disease patient PubMed: Breuer 2002 - M - United States - - - - - 1 LOVD
+/. - c.2405_2406del r.(?) p.(Glu802Glyfs*32) Maternal (inferred) - pathogenic g.38145848_38145849del g.38286595_38286596del g.ORF15+650_651delAG (p.ORF15+T216fs) - RPGR_000078 - PubMed: Breuer 2002 - - Germline - - - - - DNA SEQ - - retinal disease patient PubMed: Breuer 2002 - M - United States - - - - - 1 LOVD
+/. - c.2405_2406del r.(?) p.(Glu802Glyfs*32) Maternal (inferred) - pathogenic g.38145848_38145849del g.38286595_38286596del g.ORF15+650_651delAG (p.ORF15+T216fs) - RPGR_000078 - PubMed: Breuer 2002 - - Germline - - - - - DNA SEQ - - retinal disease patient PubMed: Breuer 2002 - M - United States - - - - - 1 LOVD
+/. - c.2405_2406del r.(?) p.(Glu802Glyfs*32) Maternal (inferred) - pathogenic g.38145848_38145849del g.38286595_38286596del g.ORF15+650_651delAG (p.ORF15+T216fs) - RPGR_000078 - PubMed: Breuer 2002 - - Germline - - - - - DNA SEQ - - retinal disease patient PubMed: Breuer 2002 - M - United States - - - - - 1 LOVD
+/. - c.2405_2406del r.(?) p.(Glu802Glyfs*32) Maternal (inferred) - pathogenic g.38145848_38145849del g.38286595_38286596del g.ORF15+650_651delAG (p.ORF15+T216fs) - RPGR_000078 - PubMed: Breuer 2002 - - Germline - - - - - DNA SEQ - - retinal disease patient PubMed: Breuer 2002 - M - United States - - - - - 1 LOVD
+/. - c.2405_2406del r.(?) p.(Glu802Glyfs*32) Maternal (inferred) - pathogenic g.38145848_38145849del g.38286595_38286596del g.ORF15+652_653delAG (p.ORF15E217fs) - RPGR_000078 - PubMed: Breuer 2002 - - Germline - - - - - DNA SEQ - - retinal disease patient PubMed: Breuer 2002 - M - United States - - - - - 1 LOVD
+/. - c.2405_2406del r.(?) p.(Glu802Glyfs*) Maternal (inferred) - pathogenic g.38145848_38145849del g.38286595_38286596del g.ORF15+651_652delGA (p.ORF15+E217fs) - RPGR_000078 - Naoi 2003, ARVO Vis Sci 44:E2311 - - Germline - - - - - DNA SEQ - - retinal disease - Naoi 2003, ARVO Vis Sci 44:E2311 - M - Japan - - - - - 1 LOVD
+/. - c.2405_2406del r.(?) p.(Glu802Glyfs*32) Maternal (inferred) - pathogenic g.38145848_38145849del g.38286595_38286596del g.ORF15+650_651delAG (p.ORF15+T216fs) - RPGR_000078 - PubMed: Rozet 2002 - - Germline - - - - - DNA SEQ - - retinal disease Fam6 PubMed: Rozet 2002 4-generation family, 6 affected males, 3 affected carrier females M - France - - - - - 9 LOVD
+/. - c.2405_2406del r.(?) p.(Glu802Glyfs*32) Maternal (inferred) - pathogenic g.38145848_38145849del g.38286595_38286596del g.ORF15+650_651delAG (p.ORF15+T216fs) - RPGR_000078 - PubMed: Rozet 2002 - - Germline - - - - - DNA SEQ - - retinal disease Fam14 PubMed: Rozet 2002 3-generation family, 2 affected males, 1 affected carrier females M - France - - - - - 3 LOVD
+/. - c.2405_2406del r.(?) p.(Glu802Glyfs*32) Maternal (inferred) - pathogenic g.38145848_38145849del g.38286595_38286596del c.2405_2406delAG - RPGR_000078 - PubMed: Maeda 2018 - rs398122960 Germline - - - - - DNA SEQ, SEQ-NG - 39-gene panel retinal disease Pat44 PubMed: Maeda 2018 family M - Japan - - - - - 1 LOVD
+?/. - c.2405_2406del r.(?) p.(Glu802Glyfs*32) Unknown - likely pathogenic g.38145848_38145849del g.38286595_38286596del 2403_2404delAG - RPGR_000078 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 74 PubMed: Stone 2017 1 affected M - (United States) - - - - - 1 LOVD
+?/. - c.2405_2406del r.(?) p.(Glu802Glyfs*32) Unknown - likely pathogenic g.38145848_38145849del g.38286595_38286596del 2403_2404delAG - RPGR_000078 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 211 PubMed: Stone 2017 1 affected F - (United States) - - - - - 1 LOVD
+?/. - c.2405_2406del r.(?) p.(Glu802Glyfs*32) Unknown - likely pathogenic g.38145848_38145849del g.38286595_38286596del 2403_2404delAG - RPGR_000078 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 212 PubMed: Stone 2017 family, 3 affected M - (United States) - - - - - 3 LOVD
+/. - c.2405_2406del r.(?) p.(Glu802Glyfs*32) Parent #1 - pathogenic g.38145848_38145849del g.38286595_38286596del 2405_2406delAG - RPGR_000078 - PubMed: Carrigan 2016 - - Germline - - - - - DNA SEQ-NG - gene panel retinal disease - PubMed: Carrigan 2016 - - - Ireland - - - - - 1 LOVD
+/. - c.2405_2406del r.(?) p.(Glu802GlyfsTer32) Maternal (inferred) - pathogenic g.38145848_38145849del g.38286595_38286596del 2405_2406delAG - RPGR_000078 - PubMed: Bravo-Gil 2016 - - Germline - - - - - DNA SEQ-NG - 64-gene panel retinal disease 15 PubMed: Bravo-Gil 2016 see paper - - Spain - - - - - 1 LOVD
+/. 12 c.2405_2406del r.(=) p.(Glu802Glyfs*32) Parent #1 - pathogenic g.38145846_38145847delCT - ORF15 1652_653delAG (p.Glu217GlyfsX32) - RPGR_000078 - PubMed: Pelletier 2007 - - Germline - - - - - DNA SEQ blood - retinal disease - PubMed: Pelletier 2007 6 families with familial case of RP with nonambiguous X-linked transmission M - France French - - - - 6 Julia Lopez
+/. 12 c.2405_2406del r.(=) p.(Glu802Glyfs*32) Parent #1 - pathogenic g.38145846_38145847delCT - ORF15 1652_653delAG (p.Glu217GlyfsX32) - RPGR_000078 - PubMed: Pelletier 2007 - - Germline - - - - - DNA SEQ blood - retinal disease - PubMed: Pelletier 2007 2 families with male sporadic case M - France French - - - - 2 Julia Lopez
+/. 12 c.2405_2406del r.(=) p.(Glu802Glyfs*32) Parent #1 - pathogenic g.38145846_38145847delCT - ORF15 1652_653delAG (p.Glu217GlyfsX32) - RPGR_000078 - PubMed: Pelletier 2007 - - Germline - - - - - DNA SEQ blood - retinal disease - PubMed: Pelletier 2007 4 families with familial case of RP with nonambiguous X-linked transmission M - France French - - - - 4 Julia Lopez
+/. - c.2405_2406del r.(?) p.(Glu802GlyfsTer32) Maternal (inferred) - pathogenic (recessive) g.38145848_38145849del g.38286595_38286596del c.2405_2406delAG - RPGR_000078 - PubMed: Xu 2014 - - Germline - - - - - DNA SEQ - - retinal disease RP207 PubMed: Xu 2014 - - - China - - - - - 2 Isabelle Audo
+/. - c.2405_2406del r.(?) p.(Glu802GlyfsTer32) Maternal (confirmed) - pathogenic (recessive) g.38145848_38145849del g.38286595_38286596del 2405_2406delAG - RPGR_000078 - PubMed: González-del Pozo 2014 - - Germline yes - - - - DNA SEQ-NG - WES retinal disease RP15PatIII2 PubMed: Gonzalez-del Pozo 2014 4-generation family, 2 affected brothers M - Spain - - - - - 2 LOVD
+/. - c.2405_2406del r.(?) p.(Glu802GlyfsTer32) Maternal (confirmed) - pathogenic (recessive) g.38145848_38145849del g.38286595_38286596del 2405_2406delAG - RPGR_000078 - PubMed: González-del Pozo 2014 - - Germline yes - - - - DNA SEQ-NG - WES retinal disease RP15PatIII5 PubMed: Gonzalez-del Pozo 2014 brother M - Spain - - - - - 1 LOVD
+/. - c.2405_2406del r.(?) p.(Glu802GlyfsTer32) Unknown - pathogenic g.38145848_38145849del g.38286595_38286596del 2405-2406delAG - RPGR_000078 - PubMed: Méndez-Vidal 2014 - - Germline - - - - - DNA SEQ-NG - WES retinal disease Pat1 PubMed: Méndez-Vidal 2014 - - - Spain - - - - - 1 LOVD
+?/. - c.2405_2406del r.(?) p.(Glu802GlyfsTer32) Unknown - likely pathogenic g.38145848_38145849del g.38286595_38286596del - - RPGR_000078 - PubMed: Pierrottet 2014 - - Germline - - - - - DNA SEQ-NG - - retinal disease P38 [F4] PubMed: Pierrottet 2014 - - - Italy - - - - - 1 LOVD
+?/. 15 c.2405_2406del r.(?) p.(Glu802Glyfs*32) Maternal (confirmed) - likely pathogenic g.38145848_38145849del g.38286595_38286596del - - RPGR_000078 - 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-0615 PubMed: Martin-Merida 2018 - - - Spain - - - - - 1 LOVD
+?/. - c.2405_2406del r.(?) p.(Glu802Glyfs*32) Unknown ACMG pathogenic g.38145848_38145849del g.38286595_38286596del - - RPGR_000078 - - - - Germline/De novo (untested) - - - - - DNA SEQ-NG-I - - RP IR_SH_0011 - - M - Korea, South (Republic) - - - - - 1 Jinu Han
+?/. 12 c.2405_2406del r.(?) p.(Glu802Glyfs*32) Unknown - likely pathogenic g.38145846_38145847delCT - c.2405_2406delAG - RPGR_000078 - PubMed: O'Sullivan-2012 - - Unknown - - - - - DNA SEQ-NG blood - retinal disease - PubMed: O'Sullivan-2012 - - - United Kingdom (Great Britain) - - - - - 1 LOVD
+/. 15 c.2405_2406del r.(?) p.(Glu802Glyfs*32) Unknown ACMG pathogenic g.38145848_38145849del g.38286595_38286596del NM_001034853.1:c.2405_2406del, NP_001030025.1:p.(Glu802GlyfsTer32), NC_000023.10:g.38145848_38145849del - RPGR_000078 - PubMed: Wang 2018 - - Germline ? - - - - DNA SEQ - negative panel patients sequenced for RPGR retinal disease 2016090709 PubMed: Wang 2018 - M ? China Han Chinese - - - - 1 LOVD
+/. 15 c.2405_2406del r.(?) p.(Glu802Glyfs*32) Unknown ACMG pathogenic g.38145848_38145849del g.38286595_38286596del NM_001034853.1:c.2405_2406del, NP_001030025.1:p.(Glu802GlyfsTer32), NC_000023.10:g.38145848_38145849del - RPGR_000078 - PubMed: Wang 2018 - - Germline ? - - - - DNA SEQ - negative panel patients sequenced for RPGR retinal disease 2017010920 PubMed: Wang 2018 - M ? China Han Chinese - - - - 1 LOVD
+?/. 15 c.2405_2406del r.(?) p.(Glu802Glyfs*32) Maternal (confirmed) ACMG likely pathogenic g.38145848_38145849del g.38286595_38286596del c.2405_2406delAG, p.Glu802Glyfs*32 - RPGR_000078 Heterozygous PubMed: Birtel 2018 - - Germline ? - - - - DNA SEQ-NG blood - retinal disease 75 PubMed: Birtel 2018 - F - Germany - - - - - 1 LOVD
+/. - c.2405_2406del r.(?) p.(Glu802Glyfs*32) Unknown ACMG pathogenic g.38145848_38145849del g.38286595_38286596del RPGR c.2405_2406del, p.(Glu802Glyfs*32) - RPGR_000078 - PubMed: Jespersgaar 2019 - - Germline ? - - - - DNA SEQ-NG-I blood 125 genes associated with inherited retinal disorders, see paper supplemental data retinal disease 266 PubMed: Jespersgaar 2019 - ? - Denmark - - - - - 1 LOVD
+?/. - c.2405_2406del r.(?) p.(Glu802Glyfs*32) Unknown - likely pathogenic g.38145848_38145849del g.38286595_38286596del c.2405_2406delAG - RPGR_000078 - PubMed: Hariri 2018 - - Germline ? - - - - DNA SEQ - retrospective analysis retinal disease - PubMed: Hariri 2018 - ? - - - - - - - 1 LOVD
+?/. 15 c.2405_2406del r.(?) p.(Glu802Glyfs*32) Maternal (inferred) - likely pathogenic g.38145848_38145849del g.38286595_38286596del c.2405_2406del, p.Glu802Glyfs*32 - RPGR_000078 Hemizygous PubMed: Cho 2020 - - Unknown ? - - - - DNA SEQ-NG, SEQ blood after negative whole exome sequencing retinal disease 1 PubMed: Cho 2020 - M - (United States) - - - - - 1 LOVD
+?/. 15 c.2405_2406del r.(?) p.(Glu802Glyfs*32) Maternal (inferred) - likely pathogenic g.38145848_38145849del g.38286595_38286596del c.2405_2406del, p.Glu802Glyfs*32 - RPGR_000078 Heterozygous PubMed: Cho 2020 - - Unknown ? - - - - DNA SEQ-NG, SEQ blood after negative whole exome sequencing retinal disease 2 PubMed: Cho 2020 - F - (United States) - - - - - 1 LOVD
+?/. 15 c.2405_2406del r.(?) p.(Glu802Glyfs*32) Maternal (inferred) - likely pathogenic g.38145848_38145849del g.38286595_38286596del c.2405_2406del, p.Glu802Glyfs*32 - RPGR_000078 Hemizygous PubMed: Cho 2020 - - Unknown ? - - - - DNA SEQ-NG, SEQ blood after negative whole exome sequencing retinal disease 3 PubMed: Cho 2020 - M - (United States) - - - - - 1 LOVD
+?/. 15 c.2405_2406del r.(?) p.(Glu802Glyfs*32) Maternal (inferred) - likely pathogenic g.38145848_38145849del g.38286595_38286596del c.2405_2406del, p.Glu802Glyfs*32 - RPGR_000078 Hemizygous PubMed: Cho 2020 - - Unknown ? - - - - DNA SEQ-NG, SEQ blood after negative whole exome sequencing retinal disease 13 PubMed: Cho 2020 - M - (United States) - - - - - 1 LOVD
+?/. 15 c.2405_2406del r.(?) p.(Glu802Glyfs*32) Unknown - likely pathogenic g.38145848_38145849del g.38286595_38286596del c.2405_2406del, p.Glu802Glyfs*32 - RPGR_000078 Heterozygous PubMed: Cho 2020 - - Unknown ? - - - - DNA SEQ-NG, SEQ blood after negative whole exome sequencing retinal disease 14 PubMed: Cho 2020 - F - (United States) - - - - - 1 LOVD
+?/. - c.2405_2406del r.(?) p.(Glu802Glyfs*32) Parent #1 - likely pathogenic g.38145848_38145849del g.38286595_38286596del RPGR, variant 1: c.2405_2406del/p.E802Gfs*32 - RPGR_000078 solved, hemizygous PubMed: Weisschuh 2020 - - Germline yes - - - - DNA SEQ-NG blood RET4 targeted sequencing panel - see paper retinal disease 255 PubMed: Weisschuh 2020 Filing key number: 86, X-linked retinitis pigmentosa, no patient Ids, consecutive numbers given M - Germany - - - - - 1 LOVD
+?/. - c.2405_2406del r.(?) p.(Glu802Glyfs*32) Parent #1 - likely pathogenic g.38145848_38145849del g.38286595_38286596del RPGR, variant 1: c.2405_2406del/p.E802Gfs*32 - RPGR_000078 solved, hemizygous PubMed: Weisschuh 2020 - - Germline yes - - - - DNA SEQ blood Sanger sequencing retinal disease 347 PubMed: Weisschuh 2020 Filing key number: 117, X-linked retinitis pigmentosa, no patient Ids, consecutive numbers given F - Germany - - - - - 1 LOVD
+?/. - c.2405_2406del r.(?) p.(Glu802Glyfs*32) Parent #1 - likely pathogenic g.38145848_38145849del g.38286595_38286596del RPGR, variant 1: c.2405_2406del/p.E802Gfs*32 - RPGR_000078 solved, hemizygous PubMed: Weisschuh 2020 - - Germline yes - - - - DNA SEQ-NG blood RET4 targeted sequencing panel - see paper retinal disease 348 PubMed: Weisschuh 2020 Filing key number: 117, X-linked retinitis pigmentosa, no patient Ids, consecutive numbers given M - Germany - - - - - 1 LOVD
+?/. - c.2405_2406del r.(?) p.(Glu802Glyfs*32) Parent #1 - likely pathogenic g.38145848_38145849del g.38286595_38286596del RPGR, variant 1: c.2405_2406del/p.E802Gfs*32 - RPGR_000078 solved, hemizygous PubMed: Weisschuh 2020 - - Germline yes - - - - DNA SEQ-NG blood RET6 targeted sequencing panel - see paper retinal disease 415 PubMed: Weisschuh 2020 Filing key number: 134, X-linked retinitis pigmentosa, no patient Ids, consecutive numbers given F - Germany - - - - - 1 LOVD
+?/. - c.2405_2406del r.(?) p.(Glu802Glyfs*32) Parent #1 - likely pathogenic g.38145848_38145849del g.38286595_38286596del RPGR, variant 1: c.2405_2406del/p.E802Gfs*32 - RPGR_000078 solved, hemizygous PubMed: Weisschuh 2020 - - Germline yes - - - - DNA SEQ blood Sanger sequencing retinal disease 416 PubMed: Weisschuh 2020 Filing key number: 134, X-linked retinitis pigmentosa, no patient Ids, consecutive numbers given M - Germany - - - - - 1 LOVD
+?/. - c.2405_2406del r.(?) p.(Glu802Glyfs*32) Parent #1 - likely pathogenic g.38145848_38145849del g.38286595_38286596del RPGR, variant 1: c.2405_2406del/p.E802Gfs*32 - RPGR_000078 solved, hemizygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ-NG blood RET8 targeted sequencing panel - see paper retinal disease 493 PubMed: Weisschuh 2020 Filing key number: 163, X-linked retinitis pigmentosa, no patient Ids, consecutive numbers given M - Germany - - - - - 1 LOVD
+?/. - c.2405_2406del r.(?) p.(Glu802Glyfs*32) Parent #1 - likely pathogenic g.38145848_38145849del g.38286595_38286596del RPGR, variant 1: c.2405_2406del/p.E802Gfs*32 - RPGR_000078 solved, hemizygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ-NG blood RET8 targeted sequencing panel - see paper retinal disease 510 PubMed: Weisschuh 2020 Filing key number: 167, X-linked retinitis pigmentosa, no patient Ids, consecutive numbers given M - Germany - - - - - 1 LOVD
+?/. - c.2405_2406del r.(?) p.(Glu802Glyfs*32) Parent #1 - likely pathogenic g.38145848_38145849del g.38286595_38286596del RPGR, variant 1: c.2405_2406del/p.E802Gfs*32 - RPGR_000078 solved, hemizygous PubMed: Weisschuh 2020 - - Germline yes - - - - DNA SEQ-NG blood RET8 targeted sequencing panel - see paper retinal disease 561 PubMed: Weisschuh 2020 Filing key number: 200, X-linked retinitis pigmentosa, no patient Ids, consecutive numbers given F - Germany - - - - - 1 LOVD
+?/. - c.2405_2406del r.(?) p.(Glu802Glyfs*32) Maternal (inferred) - likely pathogenic g.38145848_38145849del g.38286595_38286596del RPGR p.(Glu802fs) - RPGR_000078 only protein changes written in the publication; mutation coding DNA extrapolated from other publications and databases; hemizygous PubMed: Koyanagi 2020 - - Unknown ? - - - - DNA ? - retrospective study retinal disease N-233 PubMed: Koyanagi 2020 - M - Japan - - - - - 1 LOVD
+/. - c.2405_2406del r.(?) p.(Glu802Glyfs*32) Maternal (inferred) ACMG pathogenic g.38145848_38145849del g.38286595_38286596del RPGR c.[2405_2406del];[0], V1: c.2405_2406delAG, (p.Glu802GlyfsTer32) - RPGR_000078 hemizygous PubMed: Chen 2021 - - Unknown ? - - - - DNA SEQ-NG blood 212 inherited retinal disease-related genes retinal disease F068 PubMed: Chen 2021 - ? - Taiwan - - - - - 1 LOVD
+/. - c.2405_2406del r.(?) p.(Glu802Glyfs*32) Maternal (inferred) ACMG pathogenic g.38145848_38145849del g.38286595_38286596del RPGR c.[2405_2406del];[0], V1: c.2405_2406delAG, (p.Glu802GlyfsTer32) - RPGR_000078 hemizygous PubMed: Chen 2021 - - Unknown ? - - - - DNA SEQ-NG blood 212 inherited retinal disease-related genes retinal disease F190 PubMed: Chen 2021 - ? - Taiwan - - - - - 1 LOVD
+?/. 15 c.2405_2406del r.(?) p.(Glu802Glyfs*32) Unknown - likely pathogenic g.38145848_38145849del g.38286595_38286596del ORF15+652_653del (ORF15E217Gfs*32) - RPGR_000078 obsolete ORF15 annotation; hemizygous PubMed: Fahim 2011 - - Germline/De novo (untested) ? - - - - DNA SEQ - - retinal disease 59 PubMed: Fahim 2011 no patient numbering, consecutive numbers given M - - - - - - - 1 LOVD
+?/. 15 c.2405_2406del r.(?) p.(Glu802Glyfs*32) Unknown - likely pathogenic g.38145848_38145849del g.38286595_38286596del ORF15+652_653del (ORF15E217Gfs*32) - RPGR_000078 obsolete ORF15 annotation; hemizygous PubMed: Fahim 2011 - - Germline/De novo (untested) ? - - - - DNA SEQ - - retinal disease 60 PubMed: Fahim 2011 no patient numbering, consecutive numbers given M - - - - - - - 1 LOVD
+?/. 15 c.2405_2406del r.(?) p.(Glu802Glyfs*32) Unknown - likely pathogenic g.38145848_38145849del g.38286595_38286596del ORF15+652_653del (ORF15E217Gfs*32) - RPGR_000078 obsolete ORF15 annotation; hemizygous PubMed: Fahim 2011 - - Germline/De novo (untested) ? - - - - DNA SEQ - - retinal disease 61 PubMed: Fahim 2011 no patient numbering, consecutive numbers given M - - - - - - - 1 LOVD
+?/. 15 c.2405_2406del r.(?) p.(Glu802Glyfs*32) Unknown - likely pathogenic g.38145848_38145849del g.38286595_38286596del ORF15+652_653del (ORF15E217Gfs*32) - RPGR_000078 obsolete ORF15 annotation; hemizygous PubMed: Fahim 2011 - - Germline/De novo (untested) ? - - - - DNA SEQ - - retinal disease 62 PubMed: Fahim 2011 no patient numbering, consecutive numbers given M - - - - - - - 1 LOVD
+?/. 15 c.2405_2406del r.(?) p.(Glu802Glyfs*32) Unknown - likely pathogenic g.38145848_38145849del g.38286595_38286596del ORF15+652_653del (ORF15E217Gfs*32) - RPGR_000078 obsolete ORF15 annotation; hemizygous PubMed: Fahim 2011 - - Germline/De novo (untested) ? - - - - DNA SEQ - - retinal disease 63 PubMed: Fahim 2011 no patient numbering, consecutive numbers given M - - - - - - - 1 LOVD
+?/. 15 c.2405_2406del r.(?) p.(Glu802Glyfs*32) Unknown - likely pathogenic g.38145848_38145849del g.38286595_38286596del ORF15+652_653del (ORF15E217Gfs*32) - RPGR_000078 obsolete ORF15 annotation; hemizygous PubMed: Fahim 2011 - - Germline/De novo (untested) ? - - - - DNA SEQ - - retinal disease 64 PubMed: Fahim 2011 no patient numbering, consecutive numbers given M - - - - - - - 1 LOVD
+?/. 15 c.2405_2406del r.(?) p.(Glu802Glyfs*32) Unknown - likely pathogenic g.38145848_38145849del g.38286595_38286596del ORF15+652_653del (ORF15E217Gfs*32) - RPGR_000078 obsolete ORF15 annotation; hemizygous PubMed: Fahim 2011 - - Germline/De novo (untested) ? - - - - DNA SEQ - - retinal disease 65 PubMed: Fahim 2011 no patient numbering, consecutive numbers given M - - - - - - - 1 LOVD
+?/. 15 c.2405_2406del r.(?) p.(Glu802Glyfs*32) Unknown - likely pathogenic g.38145848_38145849del g.38286595_38286596del ORF15+652_653del (ORF15E217Gfs*32) - RPGR_000078 obsolete ORF15 annotation; hemizygous PubMed: Fahim 2011 - - Germline/De novo (untested) ? - - - - DNA SEQ - - retinal disease 66 PubMed: Fahim 2011 no patient numbering, consecutive numbers given M - - - - - - - 1 LOVD
+?/. 15 c.2405_2406del r.(?) p.(Glu802Glyfs*32) Unknown - likely pathogenic g.38145848_38145849del g.38286595_38286596del ORF15+652_653del (ORF15E217Gfs*32) - RPGR_000078 obsolete ORF15 annotation; hemizygous PubMed: Fahim 2011 - - Germline/De novo (untested) ? - - - - DNA SEQ - - retinal disease 67 PubMed: Fahim 2011 no patient numbering, consecutive numbers given M - - - - - - - 1 LOVD
+?/. 15 c.2405_2406del r.(?) p.(Glu802Glyfs*32) Unknown - likely pathogenic g.38145848_38145849del g.38286595_38286596del ORF15+652_653del (ORF15E217Gfs*32) - RPGR_000078 obsolete ORF15 annotation; hemizygous PubMed: Fahim 2011 - - Germline/De novo (untested) ? - - - - DNA SEQ - - retinal disease 68 PubMed: Fahim 2011 no patient numbering, consecutive numbers given M - - - - - - - 1 LOVD
+?/. 15 c.2405_2406del r.(?) p.(Glu802Glyfs*32) Unknown - likely pathogenic g.38145848_38145849del g.38286595_38286596del ORF15+652_653del (ORF15E217Gfs*32) - RPGR_000078 obsolete ORF15 annotation; hemizygous PubMed: Fahim 2011 - - Germline/De novo (untested) ? - - - - DNA SEQ - - retinal disease 69 PubMed: Fahim 2011 no patient numbering, consecutive numbers given M - - - - - - - 1 LOVD
+?/. 15 c.2405_2406del r.(?) p.(Glu802Glyfs*32) Unknown - likely pathogenic g.38145848_38145849del g.38286595_38286596del ORF15+652_653del (ORF15E217Gfs*32) - RPGR_000078 obsolete ORF15 annotation; hemizygous PubMed: Fahim 2011 - - Germline/De novo (untested) ? - - - - DNA SEQ - - retinal disease 70 PubMed: Fahim 2011 no patient numbering, consecutive numbers given M - - - - - - - 1 LOVD
+?/. 15 c.2405_2406del r.(?) p.(Glu802Glyfs*32) Unknown - likely pathogenic g.38145848_38145849del g.38286595_38286596del ORF15+652_653del (ORF15E217Gfs*32) - RPGR_000078 obsolete ORF15 annotation; hemizygous PubMed: Fahim 2011 - - Germline/De novo (untested) ? - - - - DNA SEQ - - retinal disease 71 PubMed: Fahim 2011 no patient numbering, consecutive numbers given M - - - - - - - 1 LOVD
+?/. 15 c.2405_2406del r.(?) p.(Glu802Glyfs*32) Unknown - likely pathogenic g.38145848_38145849del g.38286595_38286596del ORF15+652_653del (ORF15E217Gfs*32) - RPGR_000078 obsolete ORF15 annotation; hemizygous PubMed: Fahim 2011 - - Germline/De novo (untested) ? - - - - DNA SEQ - - retinal disease 72 PubMed: Fahim 2011 no patient numbering, consecutive numbers given M - - - - - - - 1 LOVD
+?/. 15 c.2405_2406del r.(?) p.(Glu802Glyfs*32) Unknown - likely pathogenic g.38145848_38145849del g.38286595_38286596del ORF15+652_653del (ORF15E217Gfs*32) - RPGR_000078 obsolete ORF15 annotation; hemizygous PubMed: Fahim 2011 - - Germline/De novo (untested) ? - - - - DNA SEQ - - retinal disease 73 PubMed: Fahim 2011 no patient numbering, consecutive numbers given M - - - - - - - 1 LOVD
+?/. 15 c.2405_2406del r.(?) p.(Glu802Glyfs*32) Unknown - likely pathogenic g.38145848_38145849del g.38286595_38286596del ORF15+652_653del (ORF15E217Gfs*32) - RPGR_000078 obsolete ORF15 annotation; hemizygous PubMed: Fahim 2011 - - Germline/De novo (untested) ? - - - - DNA SEQ - - retinal disease 74 PubMed: Fahim 2011 no patient numbering, consecutive numbers given M - - - - - - - 1 LOVD
+?/. 15 c.2405_2406del r.(?) p.(Glu802Glyfs*32) Unknown - likely pathogenic g.38145848_38145849del g.38286595_38286596del ORF15+652_653del (ORF15E217Gfs*32) - RPGR_000078 obsolete ORF15 annotation; hemizygous PubMed: Fahim 2011 - - Germline/De novo (untested) ? - - - - DNA SEQ - - retinal disease 75 PubMed: Fahim 2011 no patient numbering, consecutive numbers given M - - - - - - - 1 LOVD
+?/. 15 c.2405_2406del r.(?) p.(Glu802Glyfs*32) Maternal (inferred) - likely pathogenic g.38145848_38145849del g.38286595_38286596del - - RPGR_000078 this mutation was found in N female carriers (n families): 15 (4) PubMed: Talib 2018 - - Germline yes - - - - DNA SEQ - - retinal disease 59 PubMed: Talib 2018 no patient numbering, consecutive numbers given F - - - - - - - 1 LOVD
+?/. 15 c.2405_2406del r.(?) p.(Glu802Glyfs*32) Maternal (inferred) - likely pathogenic g.38145848_38145849del g.38286595_38286596del - - RPGR_000078 this mutation was found in N female carriers (n families): 15 (4) PubMed: Talib 2018 - - Germline yes - - - - DNA SEQ - - retinal disease 60 PubMed: Talib 2018 no patient numbering, consecutive numbers given F - - - - - - - 1 LOVD
+?/. 15 c.2405_2406del r.(?) p.(Glu802Glyfs*32) Maternal (inferred) - likely pathogenic g.38145848_38145849del g.38286595_38286596del - - RPGR_000078 this mutation was found in N female carriers (n families): 15 (4) PubMed: Talib 2018 - - Germline yes - - - - DNA SEQ - - retinal disease 61 PubMed: Talib 2018 no patient numbering, consecutive numbers given F - - - - - - - 1 LOVD
+?/. 15 c.2405_2406del r.(?) p.(Glu802Glyfs*32) Maternal (inferred) - likely pathogenic g.38145848_38145849del g.38286595_38286596del - - RPGR_000078 this mutation was found in N female carriers (n families): 15 (4) PubMed: Talib 2018 - - Germline yes - - - - DNA SEQ - - retinal disease 62 PubMed: Talib 2018 no patient numbering, consecutive numbers given F - - - - - - - 1 LOVD
+?/. 15 c.2405_2406del r.(?) p.(Glu802Glyfs*32) Maternal (inferred) - likely pathogenic g.38145848_38145849del g.38286595_38286596del - - RPGR_000078 this mutation was found in N female carriers (n families): 15 (4) PubMed: Talib 2018 - - Germline yes - - - - DNA SEQ - - retinal disease 63 PubMed: Talib 2018 no patient numbering, consecutive numbers given F - - - - - - - 1 LOVD
+?/. 15 c.2405_2406del r.(?) p.(Glu802Glyfs*32) Maternal (inferred) - likely pathogenic g.38145848_38145849del g.38286595_38286596del - - RPGR_000078 this mutation was found in N female carriers (n families): 15 (4) PubMed: Talib 2018 - - Germline yes - - - - DNA SEQ - - retinal disease 64 PubMed: Talib 2018 no patient numbering, consecutive numbers given F - - - - - - - 1 LOVD
+?/. 15 c.2405_2406del r.(?) p.(Glu802Glyfs*32) Maternal (inferred) - likely pathogenic g.38145848_38145849del g.38286595_38286596del - - RPGR_000078 this mutation was found in N female carriers (n families): 15 (4) PubMed: Talib 2018 - - Germline yes - - - - DNA SEQ - - retinal disease 65 PubMed: Talib 2018 no patient numbering, consecutive numbers given F - - - - - - - 1 LOVD
+?/. 15 c.2405_2406del r.(?) p.(Glu802Glyfs*32) Maternal (inferred) - likely pathogenic g.38145848_38145849del g.38286595_38286596del - - RPGR_000078 this mutation was found in N female carriers (n families): 15 (4) PubMed: Talib 2018 - - Germline yes - - - - DNA SEQ - - retinal disease 66 PubMed: Talib 2018 no patient numbering, consecutive numbers given F - - - - - - - 1 LOVD
+?/. 15 c.2405_2406del r.(?) p.(Glu802Glyfs*32) Maternal (inferred) - likely pathogenic g.38145848_38145849del g.38286595_38286596del - - RPGR_000078 this mutation was found in N female carriers (n families): 15 (4) PubMed: Talib 2018 - - Germline yes - - - - DNA SEQ - - retinal disease 67 PubMed: Talib 2018 no patient numbering, consecutive numbers given F - - - - - - - 1 LOVD
+?/. 15 c.2405_2406del r.(?) p.(Glu802Glyfs*32) Maternal (inferred) - likely pathogenic g.38145848_38145849del g.38286595_38286596del - - RPGR_000078 this mutation was found in N female carriers (n families): 15 (4) PubMed: Talib 2018 - - Germline yes - - - - DNA SEQ - - retinal disease 68 PubMed: Talib 2018 no patient numbering, consecutive numbers given F - - - - - - - 1 LOVD
+?/. 15 c.2405_2406del r.(?) p.(Glu802Glyfs*32) Maternal (inferred) - likely pathogenic g.38145848_38145849del g.38286595_38286596del - - RPGR_000078 this mutation was found in N female carriers (n families): 15 (4) PubMed: Talib 2018 - - Germline yes - - - - DNA SEQ - - retinal disease 69 PubMed: Talib 2018 no patient numbering, consecutive numbers given F - - - - - - - 1 LOVD
+?/. 15 c.2405_2406del r.(?) p.(Glu802Glyfs*32) Maternal (inferred) - likely pathogenic g.38145848_38145849del g.38286595_38286596del - - RPGR_000078 this mutation was found in N female carriers (n families): 15 (4) PubMed: Talib 2018 - - Germline yes - - - - DNA SEQ - - retinal disease 70 PubMed: Talib 2018 no patient numbering, consecutive numbers given F - - - - - - - 1 LOVD
+?/. 15 c.2405_2406del r.(?) p.(Glu802Glyfs*32) Maternal (inferred) - likely pathogenic g.38145848_38145849del g.38286595_38286596del - - RPGR_000078 this mutation was found in N female carriers (n families): 15 (4) PubMed: Talib 2018 - - Germline yes - - - - DNA SEQ - - retinal disease 71 PubMed: Talib 2018 no patient numbering, consecutive numbers given F - - - - - - - 1 LOVD
+?/. 15 c.2405_2406del r.(?) p.(Glu802Glyfs*32) Maternal (inferred) - likely pathogenic g.38145848_38145849del g.38286595_38286596del - - RPGR_000078 this mutation was found in N female carriers (n families): 15 (4) PubMed: Talib 2018 - - Germline yes - - - - DNA SEQ - - retinal disease 72 PubMed: Talib 2018 no patient numbering, consecutive numbers given F - - - - - - - 1 LOVD
+?/. 15 c.2405_2406del r.(?) p.(Glu802Glyfs*32) Maternal (inferred) - likely pathogenic g.38145848_38145849del g.38286595_38286596del - - RPGR_000078 this mutation was found in N female carriers (n families): 15 (4) PubMed: Talib 2018 - - Germline yes - - - - DNA SEQ - - retinal disease 73 PubMed: Talib 2018 no patient numbering, consecutive numbers given F - - - - - - - 1 LOVD
+/. - c.2405_2406del r.(?) p.(Glu802GlyfsTer32) Maternal (confirmed) - pathogenic g.38145848_38145849del g.38286595_38286596del RPGR c.[2405_2406del];[0]; p.(Glu802GlyfsTer32) - RPGR_000078 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 F068 PubMed: Chen 2021 - - - Taiwan - - - - - 1 LOVD
+/. - c.2405_2406del r.(?) p.(Glu802GlyfsTer32) Maternal (confirmed) - pathogenic g.38145848_38145849del g.38286595_38286596del RPGR c.[2405_2406del];[0]; p.(Glu802GlyfsTer32) - RPGR_000078 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 F190 PubMed: Chen 2021 - - - Taiwan - - - - - 1 LOVD
+?/. - c.2405_2406del r.(?) p.(Glu802GlyfsTer32) Parent #1 ACMG likely pathogenic g.38145848_38145849del g.38286595_38286596del - - RPGR_000078 ACMG PM2, PVS1_STRONG, PP5 PubMed: Weisschuh 2024 - - Germline - - - - - DNA SEQ-NG - WGS ? CRD-851 PubMed: Weisschuh 2024 family, 2 affected F - Germany - - - - - 2 Johan den Dunnen
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