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.

1998 entries on 20 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     
+?/. 10 1246-?_*1091-? r.(?) p.(?) deletion after exon 10 Maternal (inferred) - likely pathogenic g.? g.? - - USP9X_000005 this mutation was found in one female carrier PubMed: Talib 2018 - - Germline yes - - - - DNA SEQ - - retinal disease 32 PubMed: Talib 2018 no patient numbering, consecutive numbers given F - - - - - - - 1 LOVD
+?/. - c.(1245+1_1246-1)_(*135+?)del r.? p.(Glu416Ilefs*4) Paternal (confirmed) - likely pathogenic g.? - c.(1245+1_1246-1)_(*135+?)del - USP9X_000005 - PubMed: Panneman 2023 - - Unknown - - - - - DNA SEQ - RP-LCA smMIPs sequencing RP - PubMed: Panneman 2023 - M - - - - - - - 1 Daan Panneman
+/. - c.(1245+1_1246-1)_*456{0} r.? p.? Maternal (inferred) - pathogenic g.(?_38128423)_(38164044_38169867)del g.(?_38269170)_(38304791_38310614)del del ex11-19 - RPGR_000316 - PubMed: Bader 2003 - - Germline - - - - - DNA SEQ - - retinal disease RP22/4094 PubMed: Bader 2003 - M - Germany - - - - - 1 LOVD
+/. 1_11i c.-80_1414+42delinsC r.? p.? Parent #1 - pathogenic (recessive) g.38156495_38186700delinsG g.38297242_38327447delinsG del ex1-11;g.ORF15+1675A>G - RPGR_000191 - PubMed: Jin 2005 - - Germline - - - - - DNA PCR, SEQ - - retinal disease family PubMed: Jin 2005 5-generation family, 6 affected males, 7 non-affected carrier females M - Japan - - - - - 6 LOVD
-/. - c.-52C>A r.(?) p.(=) Unknown - benign g.38186672G>T - - - RPGR_000811 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.? r.? p.(Ala83_Pro471del) Unknown ACMG pathogenic g.? - NM_001034853.1:c.248_1414del - USP9X_000005 - 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.? r.? p.(Asp10_Thr103del) Unknown ACMG pathogenic g.? - NM_001034853.1:c.29_310del - USP9X_000005 - 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.? r.? p.(Glu260_Pro471del) Unknown ACMG pathogenic g.? - NM_001034853.1:c.779_1414del - USP9X_000005 - 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.? r.? p.? Parent #1 - pathogenic g.? - 523+1G>T - RPGR_000000 variant description makes no sense PubMed: Vervoort 2000 - - Germline - - - - - DNA SSCA, SEQ - - retinal disease Fam63 PubMed: Vervoort 2000 - M - - - - - - - 1 LOVD
+/. - c.? r.? p.? Maternal (inferred) - pathogenic g.? - 6.4kb deletion IVS15+1.5kb and IVS15+7.9kb (IVS15a+70) - USP9X_000005 - {PMID:Roepman 1996:8776599], PubMed: Kirschne 1999 - - Germline - - - - - DNA SEQ - - retinal disease Pat2557 {PMID:Roepman 1996:8776599], PubMed: Kirschne 1999 3-generation family, 5 affected males, 1 affected/1 unaffected carrier females M - Denmark - - - - - 3 LOVD
+?/. - c.? r.? p.? Unknown - likely pathogenic g.? - 2236_2237delCT (Glu746Argfs*23) - USP9X_000005 - PubMed: Huang 2017 - - Germline - - - - - DNA SEQ-NG - WES retinal disease RP-054 PubMed: Huang 2017 family - - China - - - - - 1 LOVD
+/. 8 c.? r.(?) r.spl? Maternal (inferred) - pathogenic (dominant) g.38163968C>T - c.854G>A (p.G275S) - RPGR_000000 - PubMed: Prokisch 2007 - - Germline - - - - - DNA SEQ bood - retinal disease - PubMed: Prokisch 2007 - - - Denmark Danish - - - - 1 LOVD
+/. 8 c.? r.(?) r.spl? Maternal (inferred) - pathogenic (dominant) g.38163968C>T - c.854G>A (p.G275S) - RPGR_000000 - PubMed: Prokisch 2007 - - Germline - - - - - DNA SEQ bood - retinal disease - PubMed: Prokisch 2007 - - - Denmark Danish - - - - 1 LOVD
+/. - c.? r.(?) p.? Maternal (inferred) - pathogenic (dominant) g.? - del6.4kb (Lossoffunction) - 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.? - c.2212C>A (Gly738*) - USP9X_000005 - PubMed: Daiger 2014 - - Germline - - - - - DNA SEQ-NG - WES retinal disease VCH017 PubMed: Daiger 2014 - - - United States - - - - - 1 LOVD
+/. - c.? r.? p.? Parent #1 - pathogenic (dominant) g.? - c.194C>T (Gly65Asp) - USP9X_000005 - PubMed: Daiger 2014 - - Germline - - - - - DNA SEQ-NG - WES retinal disease VCH018 PubMed: Daiger 2014 - - - United States - - - - - 1 LOVD
+/. - c.? r.? p.? Parent #1 - pathogenic (dominant) g.? - Gly738* - USP9X_000005 - PubMed: Daiger 2014 - - Germline - - - - - DNA SEQ-NG - WES retinal disease RFS191 PubMed: Daiger 2014 - - - United States - - - - - 1 LOVD
+/. - c.? r.? p.? Parent #1 - pathogenic (dominant) g.? - Gly65Asp - USP9X_000005 - PubMed: Daiger 2014 - - Germline - - - - - DNA SEQ-NG - WES retinal disease RFS296 PubMed: Daiger 2014 - - - United States - - - - - 1 LOVD
+?/. 3 c.? r.(?) p.? Unknown - likely pathogenic g.38182177C>A - c.176G>T - RPGR_000000 - PubMed: Sullivan-2013 - - Unknown - - - - - DNA SEQ, PCR blood - retinal disease - PubMed: Sullivan-2013 - - no - - - - - - 1 LOVD
+?/. - c.? r.(?) p.(Thr575fs) Maternal (inferred) - likely pathogenic g.? g.? RPGR p.(Thr575fs) - USP9X_000005 only protein changes written in the publication; Mutalyzer Back Translator used for coding DNA variant (impossible in case of frameshift mutations); hemizygous PubMed: Koyanagi 2020 - - Unknown ? - - - - DNA ? - retrospective study retinal disease N-298 PubMed: Koyanagi 2020 - M - Japan - - - - - 1 LOVD
+?/. - c.? r.(?) p.(Gly718fs) Maternal (inferred) - likely pathogenic g.? g.? RPGR p.(Gly718fs) - USP9X_000005 only protein changes written in the publication; Mutalyzer Back Translator used for coding DNA variant (impossible in case of frameshift mutations); hemizygous PubMed: Koyanagi 2020 - - Unknown ? - - - - DNA ? - retrospective study retinal disease OPH-39 PubMed: Koyanagi 2020 - M - Japan - - - - - 1 LOVD
+?/. - c.? r.(?) p.? Maternal (inferred) - likely pathogenic g.? - V36F* - USP9X_000005 - PubMed: Wutz 2002 - - Germline yes 0/600 controls - - - DNA, RNA SEQ, RT-PCR, SSCA blood - retinal disease T9;Pat15 PubMed: Wutz 2002, PubMed: Kim 2021 - M - Korea - - - - - 4 LOVD
+?/. - c.? r.(?) p.(Gly702fs) Both (homozygous) - likely pathogenic g.? g.? RPGR p.G702fs - USP9X_000005 no nucleotide annotation, no possibility of extrapolation from protein and databases; heterozygous PubMed: Jacobson 2014 - - Unknown ? - - - - DNA ? - - retinal disease P16 PubMed: Jacobson 2014 - M - United States - - - - - 1 LOVD
+/. - c.? r.? p.? Unknown ACMG pathogenic g.38184601_38194323delinsTACACAG - - - RPGR_000000 ACMG PM2, PVS1, PP5 PubMed: Weisschuh 2024 - - Germline - - - - - DNA SEQ-NG - WGS ? XRP-248 PubMed: Weisschuh 2024 family, >3 affected F - Germany - - - - - 4 Johan den Dunnen
+/. - c.154+3_6delTAGT r.spl p.? Maternal (inferred) - pathogenic g.38182648_38182651del g.38323395_38323398del RPGR c.154+3_6delTAGT - RPGR_000799 in vitro splicing assay: exon 2 skipping; hemizygous PubMed: Kortum 2021 - - Germline yes - - - - DNA SEQ - - retinal disease XRP 29 PubMed: Kortum 2021 - M - - - - - - - 1 LOVD
-?/. - c.9G>A r.(?) p.(Glu3=) Unknown - likely benign g.38186612C>T - RPGR(NM_001034853.1):c.9G>A (p.E3=) - RPGR_000158 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 1 c.27del r.(?) p.(Asp10Ilefs*58) Maternal (inferred) - likely pathogenic g.38186596del g.38327343del - - RPGR_000801 this mutation was found in N female carriers (n families): 15 (1) PubMed: Talib 2018 - - Germline yes - - - - DNA SEQ - - retinal disease 1 PubMed: Talib 2018 no patient numbering, consecutive numbers given F - - - - - - - 1 LOVD
+?/. 1 c.27del r.(?) p.(Asp10Ilefs*58) Maternal (inferred) - likely pathogenic g.38186596del g.38327343del - - RPGR_000801 this mutation was found in N female carriers (n families): 15 (1) PubMed: Talib 2018 - - Germline yes - - - - DNA SEQ - - retinal disease 2 PubMed: Talib 2018 no patient numbering, consecutive numbers given F - - - - - - - 1 LOVD
+?/. 1 c.27del r.(?) p.(Asp10Ilefs*58) Maternal (inferred) - likely pathogenic g.38186596del g.38327343del - - RPGR_000801 this mutation was found in N female carriers (n families): 15 (1) PubMed: Talib 2018 - - Germline yes - - - - DNA SEQ - - retinal disease 3 PubMed: Talib 2018 no patient numbering, consecutive numbers given F - - - - - - - 1 LOVD
+?/. 1 c.27del r.(?) p.(Asp10Ilefs*58) Maternal (inferred) - likely pathogenic g.38186596del g.38327343del - - RPGR_000801 this mutation was found in N female carriers (n families): 15 (1) PubMed: Talib 2018 - - Germline yes - - - - DNA SEQ - - retinal disease 4 PubMed: Talib 2018 no patient numbering, consecutive numbers given F - - - - - - - 1 LOVD
+?/. 1 c.27del r.(?) p.(Asp10Ilefs*58) Maternal (inferred) - likely pathogenic g.38186596del g.38327343del - - RPGR_000801 this mutation was found in N female carriers (n families): 15 (1) PubMed: Talib 2018 - - Germline yes - - - - DNA SEQ - - retinal disease 5 PubMed: Talib 2018 no patient numbering, consecutive numbers given F - - - - - - - 1 LOVD
+?/. 1 c.27del r.(?) p.(Asp10Ilefs*58) Maternal (inferred) - likely pathogenic g.38186596del g.38327343del - - RPGR_000801 this mutation was found in N female carriers (n families): 15 (1) PubMed: Talib 2018 - - Germline yes - - - - DNA SEQ - - retinal disease 6 PubMed: Talib 2018 no patient numbering, consecutive numbers given F - - - - - - - 1 LOVD
+?/. 1 c.27del r.(?) p.(Asp10Ilefs*58) Maternal (inferred) - likely pathogenic g.38186596del g.38327343del - - RPGR_000801 this mutation was found in N female carriers (n families): 15 (1) PubMed: Talib 2018 - - Germline yes - - - - DNA SEQ - - retinal disease 7 PubMed: Talib 2018 no patient numbering, consecutive numbers given F - - - - - - - 1 LOVD
+?/. 1 c.27del r.(?) p.(Asp10Ilefs*58) Maternal (inferred) - likely pathogenic g.38186596del g.38327343del - - RPGR_000801 this mutation was found in N female carriers (n families): 15 (1) PubMed: Talib 2018 - - Germline yes - - - - DNA SEQ - - retinal disease 8 PubMed: Talib 2018 no patient numbering, consecutive numbers given F - - - - - - - 1 LOVD
+?/. 1 c.27del r.(?) p.(Asp10Ilefs*58) Maternal (inferred) - likely pathogenic g.38186596del g.38327343del - - RPGR_000801 this mutation was found in N female carriers (n families): 15 (1) PubMed: Talib 2018 - - Germline yes - - - - DNA SEQ - - retinal disease 9 PubMed: Talib 2018 no patient numbering, consecutive numbers given F - - - - - - - 1 LOVD
+?/. 1 c.27del r.(?) p.(Asp10Ilefs*58) Maternal (inferred) - likely pathogenic g.38186596del g.38327343del - - RPGR_000801 this mutation was found in N female carriers (n families): 15 (1) PubMed: Talib 2018 - - Germline yes - - - - DNA SEQ - - retinal disease 10 PubMed: Talib 2018 no patient numbering, consecutive numbers given F - - - - - - - 1 LOVD
+?/. 1 c.27del r.(?) p.(Asp10Ilefs*58) Maternal (inferred) - likely pathogenic g.38186596del g.38327343del - - RPGR_000801 this mutation was found in N female carriers (n families): 15 (1) PubMed: Talib 2018 - - Germline yes - - - - DNA SEQ - - retinal disease 11 PubMed: Talib 2018 no patient numbering, consecutive numbers given F - - - - - - - 1 LOVD
+?/. 1 c.27del r.(?) p.(Asp10Ilefs*58) Maternal (inferred) - likely pathogenic g.38186596del g.38327343del - - RPGR_000801 this mutation was found in N female carriers (n families): 15 (1) PubMed: Talib 2018 - - Germline yes - - - - DNA SEQ - - retinal disease 12 PubMed: Talib 2018 no patient numbering, consecutive numbers given F - - - - - - - 1 LOVD
+?/. 1 c.27del r.(?) p.(Asp10Ilefs*58) Maternal (inferred) - likely pathogenic g.38186596del g.38327343del - - RPGR_000801 this mutation was found in N female carriers (n families): 15 (1) PubMed: Talib 2018 - - Germline yes - - - - DNA SEQ - - retinal disease 13 PubMed: Talib 2018 no patient numbering, consecutive numbers given F - - - - - - - 1 LOVD
+?/. 1 c.27del r.(?) p.(Asp10Ilefs*58) Maternal (inferred) - likely pathogenic g.38186596del g.38327343del - - RPGR_000801 this mutation was found in N female carriers (n families): 15 (1) PubMed: Talib 2018 - - Germline yes - - - - DNA SEQ - - retinal disease 14 PubMed: Talib 2018 no patient numbering, consecutive numbers given F - - - - - - - 1 LOVD
+?/. 1 c.27del r.(?) p.(Asp10Ilefs*58) Maternal (inferred) - likely pathogenic g.38186596del g.38327343del - - RPGR_000801 this mutation was found in N female carriers (n families): 15 (1) PubMed: Talib 2018 - - Germline yes - - - - DNA SEQ - - retinal disease 15 PubMed: Talib 2018 no patient numbering, consecutive numbers given F - - - - - - - 1 LOVD
+/. 1i c.28+1G>A r.(?) p.? Parent #1 - pathogenic (recessive) g.38186592C>T g.38327339C>T IVS1+1G>A - RPGR_000314 - PubMed: Zito 1999 - - Germline - - - - - DNA SEQ - - retinal disease RP106 PubMed: Zito 1999 - M - - - - - - - 1 LOVD
+/. 1i c.28+1G>A r.(?) p.? Parent #1 - pathogenic g.38186592C>T g.38327339C>T IVS1+1G>A - RPGR_000314 - PubMed: Zito 2000 - - Germline - - - - - DNA SEQ - - retinal disease FamA PubMed: Zito 2000 - M - United States - - - - - 1 LOVD
+/. 1i c.28+1G>A r.(?) p.? Parent #1 - pathogenic g.38186592C>T g.38327339C>T 28+1G>A - RPGR_000314 - PubMed: Zahid 2013 - - Germline - - - - - DNA SEQ - - retinal disease Fam1 PubMed: Zahid 2013 family, 2 affected - - United States - - - - - 2 LOVD
+/. - c.28+1G>A r.spl p.? Maternal (inferred) - pathogenic g.38186592C>T g.38327339C>T IVS1+1G>A - RPGR_000314 - PubMed: Sharon 2000, PubMed: Sharon 2003 - - Germline - - - - - DNA SEQ - - retinal disease patient PubMed: Sharon 2000, PubMed: Sharon 2003 - M - (United States) - - - - - 1 LOVD
+/. 1i c.28+1G>A r.spl? p.? Maternal (inferred) - pathogenic (dominant) g.38186592C>T - c.28+1G>A (Spl) - RPGR_000314 - PubMed: Prokisch 2007 - - Germline - - - - - DNA SEQ bood - retinal disease - PubMed: Prokisch 2007 - - - Denmark Danish - - - - 1 LOVD
+/. - c.28+1G>C r.spl p.(?) Unknown ACMG pathogenic g.38186592C>G g.38327339C>G RPGR c.28+1G>C, p.(?) - RPGR_000643 - PubMed: Jespersgaar 2019 - - Germline ? - - - - DNA SEQ-NG-I blood 125 genes associated with inherited retinal disorders, see paper supplemental data retinal disease 259 PubMed: Jespersgaar 2019 - ? - Denmark - - - - - 1 LOVD
+?/. 1i c.28+2T>C r.(?) p.(?) Maternal (inferred) - likely pathogenic g.38186591A>G g.38327338A>G - - RPGR_000800 this mutation was found in one female carrier PubMed: Talib 2018 - - Germline yes - - - - DNA SEQ - - retinal disease 16 PubMed: Talib 2018 no patient numbering, consecutive numbers given F - - - - - - - 1 LOVD
+?/. 1i c.28+2T>C r.spl? p.(?) Paternal (confirmed) - likely pathogenic g.38186591A>G - c.28+2T>C - RPGR_000800 - PubMed: Panneman 2023 - - Unknown - - - - - DNA SEQ - RP-LCA smMIPs sequencing RP - PubMed: Panneman 2023 - M - - - - - - - 1 Daan Panneman
+/. - c.28+2T>G r.spl? p.? Maternal (inferred) - pathogenic g.38186591A>C - c.28+2T>G - RPGR_000621 - PubMed: Branham-2012 - - Germline - - - - - DNA SEQ, PCR blood - retinal disease - PubMed: Branham-2012 - M - - - - - - - 1 LOVD
+/. - c.28+5G>A r.spl? p.? Both (homozygous) - pathogenic g.38186588C>T g.38327335C>T - - RPGR_000104 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs62638626 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
+/. 1i c.28+5G>A r.(?) p.? Parent #1 - pathogenic (recessive) g.38186588C>T g.38327335C>T IVS1+5G>A - RPGR_000104 - PubMed: Zito 1999 - - Germline - - - - - DNA SEQ - - retinal disease RP1120 PubMed: Zito 1999 - M - - - - - - - 1 LOVD
+?/. 1i c.28+5G>A r.spl? p.? Maternal (inferred) - likely pathogenic g.38186588C>T - c.28+5G>A - RPGR_000104 - PubMed: Foote-2019 - - Germline - - - - - DNA SEQ-NG blood - retinal disease - PubMed: Foote-2019 - M - United States - - - - - 1 LOVD
+?/. - c.28+5G>A r.spl? p.(?) Maternal (inferred) - likely pathogenic g.38186588C>T g.38327335C>T RPGR p.(?) - RPGR_000104 only protein changes written in the publication; Mutalyzer Back Translator used for coding DNA variant (impossible in case of frameshift mutations); hemizygous PubMed: Koyanagi 2020 - - Unknown ? - - - - DNA ? - retrospective study retinal disease OPH-783 PubMed: Koyanagi 2020 - M - Japan - - - - - 1 LOVD
-/. - c.29-15G>A r.(=) p.(=) Unknown - benign g.38182792C>T g.38323539C>T - - RPGR_000137 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. 1i c.29-15G>A r.(?) p.? Parent #1 - likely benign g.38182792C>T g.38323539C>T IVS1-15G>A - RPGR_000137 - PubMed: Buraczynska 1997 - - Germline - - - - - DNA SEQ - - Healthy/Control - PubMed: Buraczynska 1997 - - - - - - - - - 9 LOVD
-/. 1i c.29-15G>A r.(?) p.? Parent #1 - benign g.38182792C>T g.38323539C>T IVS1-15A>G - RPGR_000137 - PubMed: Miano 1999 - - Germline - 0.017 - - - DNA SSCA, SEQ - - Healthy/Control control PubMed: Miano 1999 - - - - - - - - - 1 LOVD
-/. 1i c.29-15G>A r.spl? p.? Unknown - benign g.38182792C>T - c.29-15G>A - RPGR_000137 - PubMed: Neidhardt 2009 - - Germline - - - - - DNA PCR blood - retinal disease - PubMed: Neidhardt 2009 Geographic origin either Germany, Netherlands, Denmark or Switzerland - - - - - - - - 1 LOVD
-/. 1i c.29-15G>A r.spl? p.? Unknown - benign g.38182792C>T - c.29-15G>A - RPGR_000137 - PubMed: Neidhardt 2008 - - Germline - - - - - DNA PCR blood - retinal disease - PubMed: Neidhardt 2008 Geographic origin either Germany, Netherlands, Denmark or Switzerland - - - - - - - - 1 LOVD
-/. 1i c.29-15G>A r.spl? p.? Unknown - benign g.38182792C>T - c.29-15G>A - RPGR_000137 - PubMed: Neidhardt 2008 - - Germline - - - - - DNA PCR blood - retinal disease - PubMed: Neidhardt 2008 Geographic origin either Germany, Netherlands, Denmark or Switzerland - - - - - - - - 1 LOVD
+/. 1i c.29-2A>T r.spl p.? Unknown ACMG pathogenic g.38182779T>A g.38323526T>A NM_000328.2:c.29-2A>T, NP_000319.1:p.?, NC_000023.10:g.38182779T>A - RPGR_000601 different transcript (NM_000328.2) in publication PubMed: Wang 2018 - - Germline ? - - - - DNA SEQ-NG - panel of 441 hereditary eye disease genes including 291 genes related to IRD retinal disease 2016071202 PubMed: Wang 2018 - M ? China Han Chinese - - - - 1 LOVD
+?/. 1i c.29-2A>T r.spl? p.? Maternal (inferred) - likely pathogenic (maternal) g.38182779T>A - c.29-2A>T - RPGR_000601 - PubMed: Liu-2020 - - Germline - - - - - DNA SEQ-NG - hereditary eye disease enrichment panel (HEDEP) retinal disease - PubMed: Liu-2020 - M - - - - - - - 1 LOVD
+?/. - c.29-2_30del r.spl? p.? Unknown - likely pathogenic g.38182776_38182779del g.38323523_38323526del RPGR(NM_001034853.2):c.29-2_30delAGAT - RPGR_000128 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.29-2_30del r.spl? p.? Unknown - likely pathogenic g.38182776_38182779del - RPGR(NM_001034853.2):c.29-2_30delAGAT - RPGR_000128 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 1i c.29-1G>T r.spl p.(?) Maternal (confirmed) ACMG likely pathogenic g.38182778C>A g.38323525C>A c.29-1G>T, Splice - RPGR_000642 Hemizygous PubMed: Birtel 2018 - - Germline ? - - - - DNA SEQ blood - retinal disease 67 PubMed: Birtel 2018 - M - Germany - - - - - 1 LOVD
+?/. - c.29-1G>T r.spl p.(?) Parent #1 - likely pathogenic g.38182778C>A g.38323525C>A RPGR, variant 1: c.29-1G>T/p.? - RPGR_000642 solved, hemizygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ-NG blood RET9 targeted sequencing panel - see paper retinal disease 538 PubMed: Weisschuh 2020 Filing key number: 186, X-linked retinitis pigmentosa, no patient Ids, consecutive numbers given M - Germany - - - - - 1 LOVD
+?/. 1i c.29-1G>T r.spl p.(?) Unknown - likely pathogenic g.38182778C>A g.38323525C>A RPGR c.29-1G>T, splice site - RPGR_000642 heterozygous PubMed: Gliem 2020 - - Unknown ? - - - - DNA SEQ-NG-I blood whole exome sequencing retinal disease 173 PubMed: Gliem 2020 - F - (Germany) - - - - - 1 LOVD
+/. - c.29-1G>T r.spl p.? Unknown ACMG pathogenic g.38182778C>A g.38323525C>A - - RPGR_000642 ACMG PM2, PVS1_STRONG, PP5_STRONG PubMed: Weisschuh 2024 813233 - Germline/De novo (untested) - - - - - DNA SEQ-NG - WGS ? XRP-245 PubMed: Weisschuh 2024 patient, no family history M - Germany - - - - - 1 Johan den Dunnen
+/. 1i_3i c.(28+1_29-1)_(247+1_248-1)del r.? p.? Parent #1 - pathogenic g.(38180343_38182105)_(38182778_38186592)del g.(38321090_38322852)_(38323525_38327339)del del ex2-3 - RPGR_000181 - PubMed: Zahid 2013 - - Germline - - - - - DNA SEQ - - retinal disease Fam2 PubMed: Zahid 2013 family, 2 affected - - United States - - - - - 2 LOVD
+/. 2_5 c.29_469del r.(?) p.(Asp10_Thr156del) Maternal (inferred) - pathogenic g.38178082_38182777del - c.29_469del - RPGR_000708 - PubMed: Khateb-2016 - - Germline - - - - - DNA PCR, SEQ-NG, SEQ blood WES retinal disease - PubMed: Khateb-2016 - - - - Ashkenazi/Jewish - - - - 1 LOVD
+/. - c.35del r.(?) p.(Gly12Valfs*56) Maternal (inferred) - pathogenic g.38182773del g.38323520del 92delG - RPGR_000457 - PubMed: Bader 2003 - - Germline - - - - - DNA SEQ - - retinal disease RP67/5619 PubMed: Bader 2003 - M - Germany - - - - - 1 LOVD
?/. - c.68C>A r.(?) p.(Ala23Asp) Unknown - VUS g.38182738G>T - RPGR(NM_001034853.1):c.68C>A (p.A23D) - RPGR_000648 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2 c.89delT r.(?) p.(Phe30Serfs*38) Parent #1 - pathogenic g.38182718del g.38323465del c.89delT - RPGR_000492 - PubMed: Bernardis 2016 - - De novo - - - - - DNA SEQ-NG - 72-gene panel retinal disease IRD017 PubMed: Bernardis 2016 - - Italy - - - - - 1 LOVD
+?/. - c.92G>A r.(?) p.(Trp31Ter) Parent #1 - likely pathogenic g.38182714C>T g.38323461C>T - - RPGR_000582 - PubMed: Wang 2014 - - Germline - - - - - DNA SEQ-NG - 66-gene panel retinal disease 52 PubMed: Wang 2014 - M - United States - - - - - 1 LOVD
+?/. - c.93G>A r.(?) p.(Trp31*) Unknown - likely pathogenic g.38182713C>T g.38323460C>T - - RPGR_000481 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 231 PubMed: Stone 2017 1 affected F - (United States) - - - - - 1 LOVD
+/. 2 c.101del r.(?) p.(Asn34Metfs*34) Parent #1 - pathogenic g.38182709del g.38323456del 160delA - RPGR_000313 - PubMed: Guevara-Fujita 2001 - - Germline - - - - - DNA SEQ - - retinal disease A316 PubMed: Guevara-Fujita 2001 family, 10 affected M - - - - - - - 10 LOVD
+?/. 2 c.101del r.(?) p.(Asn34Metfs*34) Unknown - likely pathogenic g.38182709del g.38323456del c.101del (p.N34Mfs*34) - RPGR_000313 hemizygous PubMed: Fahim 2011 - - Germline/De novo (untested) ? - - - - DNA SEQ - - retinal disease 20 PubMed: Fahim 2011 no patient numbering, consecutive numbers given M - - - - - - - 1 LOVD
+?/. 2 c.101del r.(?) p.(Asn34Metfs*34) Unknown - likely pathogenic g.38182709del g.38323456del c.101del (p.N34Mfs*34) - RPGR_000313 hemizygous PubMed: Fahim 2011 - - Germline/De novo (untested) ? - - - - DNA SEQ - - retinal disease 21 PubMed: Fahim 2011 no patient numbering, consecutive numbers given M - - - - - - - 1 LOVD
+?/. 2 c.101del r.(?) p.(Asn34Metfs*34) Unknown - likely pathogenic g.38182709del g.38323456del c.101del (p.N34Mfs*34) - RPGR_000313 hemizygous PubMed: Fahim 2011 - - Germline/De novo (untested) ? - - - - DNA SEQ - - retinal disease 22 PubMed: Fahim 2011 no patient numbering, consecutive numbers given M - - - - - - - 1 LOVD
+?/. 2 c.101del r.(?) p.(Asn34Metfs*34) Unknown - likely pathogenic g.38182709del g.38323456del c.101del (p.N34Mfs*34) - RPGR_000313 hemizygous PubMed: Fahim 2011 - - Germline/De novo (untested) ? - - - - DNA SEQ - - retinal disease 23 PubMed: Fahim 2011 no patient numbering, consecutive numbers given M - - - - - - - 1 LOVD
+?/. 2 c.101del r.(?) p.(Asn34Metfs*34) Unknown - likely pathogenic g.38182709del g.38323456del c.101del (p.N34Mfs*34) - RPGR_000313 hemizygous PubMed: Fahim 2011 - - Germline/De novo (untested) ? - - - - DNA SEQ - - retinal disease 24 PubMed: Fahim 2011 no patient numbering, consecutive numbers given M - - - - - - - 1 LOVD
+?/. 2 c.101del r.(?) p.(Asn34Metfs*34) Unknown - likely pathogenic g.38182709del g.38323456del c.101del (p.N34Mfs*34) - RPGR_000313 hemizygous PubMed: Fahim 2011 - - Germline/De novo (untested) ? - - - - DNA SEQ - - retinal disease 25 PubMed: Fahim 2011 no patient numbering, consecutive numbers given M - - - - - - - 1 LOVD
+?/. 2 c.101del r.(?) p.(Asn34Metfs*34) Unknown - likely pathogenic g.38182709del g.38323456del c.101del (p.N34Mfs*34) - RPGR_000313 hemizygous PubMed: Fahim 2011 - - Germline/De novo (untested) ? - - - - DNA SEQ - - retinal disease 26 PubMed: Fahim 2011 no patient numbering, consecutive numbers given M - - - - - - - 1 LOVD
+?/. 2 c.101del r.(?) p.(Asn34Metfs*34) Unknown - likely pathogenic g.38182709del g.38323456del c.101del (p.N34Mfs*34) - RPGR_000313 hemizygous PubMed: Fahim 2011 - - Germline/De novo (untested) ? - - - - DNA SEQ - - retinal disease 27 PubMed: Fahim 2011 no patient numbering, consecutive numbers given M - - - - - - - 1 LOVD
+?/. 2 c.101del r.(?) p.(Asn34Metfs*34) Unknown - likely pathogenic g.38182709del g.38323456del c.101del (p.N34Mfs*34) - RPGR_000313 hemizygous PubMed: Fahim 2011 - - Germline/De novo (untested) ? - - - - DNA SEQ - - retinal disease 28 PubMed: Fahim 2011 no patient numbering, consecutive numbers given M - - - - - - - 1 LOVD
+?/. 2 c.101del r.(?) p.(Asn34Metfs*34) Unknown - likely pathogenic g.38182709del g.38323456del c.101del (p.N34Mfs*34) - RPGR_000313 hemizygous PubMed: Fahim 2011 - - Germline/De novo (untested) ? - - - - DNA SEQ - - retinal disease 29 PubMed: Fahim 2011 no patient numbering, consecutive numbers given M - - - - - - - 1 LOVD
+/. 2 c.101_102insA r.(?) p.(Asn34Lysfs*2) Unknown - pathogenic g.38182704_38182705insT - c.101_102insA - RPGR_000743 - PubMed: Colombo-2020 - - Germline yes - - - - DNA SEQ - - retinal disease - PubMed: Colombo-2020 - F no - - - - - - 1 LOVD
+?/. - c.112del r.(?) p.(Val38Tyrfs*30) Parent #1 - likely pathogenic g.38182694del g.38323441del RPGR, variant 1: c.112del/p.V38Yfs*30 - RPGR_000714 solved, hemizygous PubMed: Weisschuh 2020 - - Germline yes - - - - DNA SEQ blood Sanger sequencing retinal disease 330 PubMed: Weisschuh 2020 Filing key number: 109, X-linked retinitis pigmentosa, no patient Ids, consecutive numbers given F - Germany - - - - - 1 LOVD
+?/. - c.112del r.(?) p.(Val38Tyrfs*30) Parent #1 - likely pathogenic g.38182694del g.38323441del RPGR, variant 1: c.112del/p.V38Yfs*30 - RPGR_000714 solved, hemizygous PubMed: Weisschuh 2020 - - Germline yes - - - - DNA SEQ-NG blood RET3 targeted sequencing panel - see paper retinal disease 331 PubMed: Weisschuh 2020 Filing key number: 109, X-linked retinitis pigmentosa, no patient Ids, consecutive numbers given M - Germany - - - - - 1 LOVD
+?/. 2 c.112del r.(?) p.(Val38Tyrfs*30) Maternal (inferred) - likely pathogenic g.38182694del g.38323441del - - RPGR_000714 this mutation was found in one female carrier PubMed: Talib 2018 - - Germline yes - - - - DNA SEQ - - retinal disease 17 PubMed: Talib 2018 no patient numbering, consecutive numbers given F - - - - - - - 1 LOVD
+?/. - c.122C>A r.(?) p.(Ser41*) Unknown - likely pathogenic g.38182684G>T g.38323431G>T RPGR c.122C>A, p.Ser41Ter - RPGR_000676 - PubMed: Zampaglione 2020 - - Unknown ? - - - - DNA SEQ-NG-I, SEQ blood - retinal disease 039-433 PubMed: Zampaglione 2020 - ? - - - - - - - 1 LOVD
+/. - c.122C>G r.(?) p.(Ser41*) Parent #1 - pathogenic (dominant) g.38182684G>C g.38323431G>C - - RPGR_000456 - PubMed: Zhou 2018 - - Germline - - - - - DNA SEQ-NG - WES retinal disease 690735M PubMed: Zhou 2018 - F - China - - - - - 1 LOVD
+?/. 2 c.122C>G r.(?) p.(Ser41*) Unknown - likely pathogenic g.38182684G>C - c.122C>G - RPGR_000456 - PubMed: Zhou-2011 - - Unknown - - - - - DNA SEQ blood WES retinal disease - PubMed: Zhou 2011 - - - China - - - - - 1 LOVD
+/. - c.126T>G r.(?) p.(Cys42Trp) Maternal (inferred) - pathogenic g.38182680A>C - X:38182680A>C ENST00000378505.2:c.126T>G (Cys42Trp) - RPGR_000455 - PubMed: Carss 2017 - - Germline - - - - - DNA SEQ-NG - WES retinal disease B240004 PubMed: Carss 2017 - M - United Kingdom (Great Britain) - - - - - 1 LOVD
+/. - c.127G>A r.(?) p.(Gly43Arg) Maternal (inferred) - pathogenic g.38182679C>T g.38323426C>T 186G>A - RPGR_000454 - PubMed: Sharon 2000, PubMed: Sharon 2003 - - Germline - - - - - DNA SEQ - - retinal disease patient PubMed: Sharon 2000, PubMed: Sharon 2003 - M - (United States) - - - - - 1 LOVD
?/. - c.127G>A r.(?) p.(Gly43Arg) Unknown - VUS g.38182679C>T g.38323426C>T RPGR c.127G>A, p.Gly43Arg - RPGR_000454 - PubMed: Zampaglione 2020 - - Unknown ? - - - - DNA SEQ-NG-I, SEQ blood - retinal disease OGI711_001420 PubMed: Zampaglione 2020 - ? - - - - - - - 1 LOVD
+/. - c.128G>A r.(?) p.(Gly43Glu) Maternal (inferred) - pathogenic g.38182678C>T g.38323425C>T 187G>A - RPGR_000453 - PubMed: Sharon 2000, PubMed: Sharon 2003 - - Germline - - - - - DNA SEQ - - retinal disease patient PubMed: Sharon 2000, PubMed: Sharon 2003 - M - (United States) - - - - - 1 LOVD
+?/. - c.133G>T r.(?) p.(Glu45*) Parent #1 - likely pathogenic g.38182673C>A g.38323420C>A RPGR, variant 1: c.133G>T/p.E45* - RPGR_000713 solved, hemizygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ-NG blood RET8 targeted sequencing panel - see paper retinal disease 514 PubMed: Weisschuh 2020 Filing key number: 170, X-linked retinitis pigmentosa, no patient Ids, consecutive numbers given M - Germany - - - - - 1 LOVD
+?/. - c.139del r.(?) p.(Ser47Leufs*21) Unknown ACMG likely pathogenic g.38182668del g.38323415del - - RPGR_000144 - - - - Germline - - - - - DNA SEQ-NG - - retinal disease - - - - - - - - - - - 1 Sandro Banfi
+/. - c.139_140insTCTGC r.(?) p.(Ser47PhefsTer23) Parent #1 - pathogenic g.38182666_38182667insGCAGA g.38323413_38323414insGCAGA - - RPGR_000532 not in 458 control chromosomes PubMed: Sun 2015 - - Germline - 1/442 chromosomes - - - DNA SEQ-NG - WES retinal disease HM860 PubMed: Sun 2015 proband - - China - - - - - 1 LOVD
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