Full data view for gene RPGRIP1

This database is one of the "Eye disease" gene variant databases.
Information The variants shown are described using the NM_020366.3 transcript reference sequence.

749 entries on 8 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)     

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DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

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Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

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Age at death     

VIP     

Data_av     

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Panel size     

Owner     
?/. - c.G2398G>A r.(?) p.(Glu800Lys) Parent #1 - VUS g.21794020G>A g.21325861G>A G2398G>A - RPGRIP1_000007 - PubMed: Wang 2015 - - Germline - - - - - DNA SEQ-NG - 163-gene panel retinal disease 113 PubMed: Wang 2015 index case - - China - - - - - 1 LOVD
+/. _1 - r.? p.? Maternal (confirmed) - pathogenic (recessive) g.21744993_21749459del g.21276834_21281300del - - RPGRIP1_000303 microdeletion involving exon 1 of RPGRIP1 (NM_020366.4). Torii 2023, submitted - - Germline - - - - - DNA SEQ-NG Blood WGS LCA6 EYE170 PubMed: Hosono 2018, Torii 2023, submitted proband, family EYE170 F no Japan Japanese - - - - 1 Kaoruko Torii
+/. _1 - r.? p.? Maternal (confirmed) - likely pathogenic (recessive) g.21744306_21748424del g.21276147_21280265del - - RPGRIP1_000303 microdeletion involving exon 1 of RPGRIP1 (NM_020366.4) Torii 2023, submitted - - Germline yes - - - - DNA MLPA, SEQ, SEQ-NG blood Targeted next-generation sequencing, CEP290 intronic variant c.2991 +1655A>, G, PCR for RPGRIP1 exon 17 deletion, CCT2, CLUAP1, DTHD1, GDF6, and IFT140 seuqencingmultiplex ligation-dependent probe amplification analysis,WGS LCA6 JU0954 PubMed: Hosono 2018, Torii 2023, submitted proband, family JIKEI-122 F no Japan Japanese - - - - 2 Kaoruko Torii
+/. _1 - r.? p.? Maternal (confirmed) - likely pathogenic (recessive) g.21744306_21748424del g.21276147_21280265del - - RPGRIP1_000303 microdeletion involving exon 1 of RPGRIP1 (NM_020366.4) Torii 2023, submitted - - Germline yes - - - - DNA MLPA, SEQ, SEQ-NG blood Targeted next-generation sequencing, CEP290 intronic variant c.2991 +1655A>, G, PCR for RPGRIP1 exon 17 deletion, CCT2, CLUAP1, DTHD1, GDF6, and IFT140 seuqencing, The RPGR exon ORF15 analysis, multiplex ligation-dependent probe amplification analysis, WGS LCA6 JU0955 PubMed: Hosono 2018, Torii 2023, submitted relative of JU0954, family JIKEI-122 M no Japan Japanese - - - - 1 Kaoruko Torii
+/. _1_3i c.-115_218+2395{0} r.0? p.0? Maternal (confirmed) - pathogenic (recessive) g.21745430_21765363delinsN[330] g.21277271_21297204delinsN[330] - - RPGRIP1_000302 microdeletion involving exon 1 to 3 Torii 2023, submitted - - Germline yes - - - - DNA SEQ-NG Blood WGS LCA6 JU1556 Torii 2023, submitted - F - Japan Japanese - - - - 1 Kaoruko Torii
+/. _1_2i c.-1_(218+600_218+800){2} r.? p.? Maternal (confirmed) - pathogenic (recessive) g.(21754036_21754236)_(21763568_21763768)del g.(21285877_21286077)_(21295409_21295609)del dup ex1-2 - RPGRIP1_000236 deleterious duplication 2kb 5' of exon 1 to 0.7kb in intron 2 PubMed: Jamshidi 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - - retinal disease 237-523 PubMed: Jamshidi 2019 2-generation family, 1 affected, unaffected heterozygous carrier parents F - United States - - - - - 1 Johan den Dunnen
+?/. - c.? r.? p.? Parent #1 - likely pathogenic (recessive) g.? - 630del (H198Tfs*50) - SERPINA1_000009 - PubMed: Weisschuh 2016 - - Germline - - - - - DNA SEQ-NG - gene panel retinal disease RCD163 PubMed: Weisschuh 2016 family - - Germany - - - - - 1 LOVD
+/. - c.? r.? p.? Unknown - pathogenic g.? - RPGRIP1:973T>C (Phe325Leu) - SERPINA1_000009 - PubMed: Ge 2015 - - Germline - - - - - DNA SEQ-NG - 195-gene panel retinal disease 59R+5.99 PubMed: Ge 2015 simplex case - - United States - - - - - 1 LOVD
-/. 8 c.? r.(?) p.? Unknown - benign g.21780085G>C - 1033G?C - SERPINA1_000009 - PubMed: Li-2009 - - Germline - - - - - DNA PCR, SEQ blood - retinal disease - PubMed: Li-2009 - - - - Saudi Arabian - - - - 1 LOVD
+?/. - c.? r.0? p.0? Unknown - likely pathogenic g.21784106_21791536del - chr14:g.21784106_21791536del - SERPINA1_000009 heterozygous PubMed: Turro 2020 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG-I blood whole genome sequencing retinal disease W000370 PubMed: Turro 2020 only individuals with mutations in retinal disease genes from this publication were inserted into LOVD ? - - - - - - - 1 LOVD
+?/. - c.? r.(?) p.D876G Both (homozygous) - pathogenic g.? g.? RPGRIP1 p.D876G - SERPINA1_000009 this variant severely disrupted the interaction with nephrocystin-4 PubMed: Roepman 2005 - - In vitro (cloned) - - - - - DNA ? - - retinal disease ? PubMed: Roepman 2005 cell line - - - - - - - - 1 LOVD
+?/. - c.? r.(?) p.R890X Both (homozygous) - pathogenic g.? g.? RPGRIP1 p.R890X - IGF1R_000000 this variant severely disrupted the interaction with nephrocystin-4 PubMed: Roepman 2005 - - In vitro (cloned) - - - - - DNA ? - - retinal disease ? PubMed: Roepman 2005 cell line - - - - - - - - 1 LOVD
+?/. - c.? r.(?) p.G746E Both (homozygous) - pathogenic g.? g.? RPGRIP1 p.G746E - CRYM_000000 this variant severely disrupted the interaction with nephrocystin-4 PubMed: Roepman 2005 - - In vitro (cloned) - - - - - DNA ? - - retinal disease ? PubMed: Roepman 2005 cell line - - - - - - - - 1 LOVD
+?/. - c.? r.(?) p.V857fs Both (homozygous) - pathogenic g.? g.? RPGRIP1 p.V857fs - MYH2_000008 this variant severely disrupted the interaction with nephrocystin-4 PubMed: Roepman 2005 - - In vitro (cloned) - - - - - DNA ? - - retinal disease ? PubMed: Roepman 2005 cell line - - - - - - - - 1 LOVD
+?/. - c.? r.(?) p.R852Q Both (homozygous) - pathogenic g.? g.? RPGRIP1 p.R852Q - SMCHD1_000000 this variant severely disrupted the interaction with nephrocystin-4 PubMed: Roepman 2005 - - In vitro (cloned) - - - - - DNA ? - - retinal disease ? PubMed: Roepman 2005 cell line - - - - - - - - 1 LOVD
+?/. _1_22_ c.? r.0? p.0? Both (homozygous) - likely pathogenic g.? g.? RPGRIP1 ex1-22del - SERPINA1_000009 deletion exons 1-22, no breakpoints known; homozygous PubMed: Huang 2017 - - Germline yes - - - - DNA SEQ-NG, SEQ - Targeted next generation sequencing retinal disease 30 PubMed: Huang 2017 - F - China - - - - - 1 LOVD
-?/. - c.50T>C r.(?) p.(Ile17Thr) Unknown - likely benign g.21756185T>C - RPGRIP1(NM_020366.4):c.50T>C (p.I17T) - RPGRIP1_000286 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.86-3T>G r.spl p.? Parent #1 - likely pathogenic (recessive) g.21762833T>G g.21294674T>G - - RPGRIP1_000127 - PubMed: DiIorio 2017 - - Germline - - - - - DNA SEQ-NG - 150-gene panel retinal disease Pat41 PubMed: Di Iorio 2017 - - - Italy - - - - - 1 LOVD
+?/. 1i c.86-1G>A r.spl p.? Parent #1 - likely pathogenic g.21762835G>A g.21294676G>A - - RPGRIP1_000246 no variant 2nd chromosome PubMed: Zou 2021 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease 518 PubMed: Zou 2021 - - - China - - - - - 1 Johan den Dunnen
+?/. 1i c.86-1G>A r.spl p.? Parent #1 - likely pathogenic g.21762835G>A g.21294676G>A - - RPGRIP1_000246 no variant 2nd chromosome PubMed: Zou 2021 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease 1275 PubMed: Zou 2021 - - - China - - - - - 1 Johan den Dunnen
?/. - c.86G>T r.(?) p.(Gly29Val) Unknown - VUS g.21762836G>T g.21294677G>T RPGRIP1(NM_020366.3):c.86G>T (p.G29V) - RPGRIP1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.95A>T r.(?) p.(Met32Leu) Unknown - VUS g.21762845T>A g.21294686T>A RPGRIP1 c.95T>A, M32L - RPGRIP1_000017 error in annotation, M32L is actually caused by c.95A>T and not c.95T>A; heterozygous PubMed: Fernandez-Martinez 2011 - - Unknown ? - - - - DNA SEQ - - retinal disease 99034 PubMed: Fernandez-Martinez 2011 - ? - - - - - - - 1 LOVD
?/. - c.95A>T r.(?) p.(Met32Leu) Unknown - VUS g.21762845T>A g.21294686T>A RPGRIP1 c.95T>A, M32L - RPGRIP1_000017 error in annotation, M32L is actually caused by c.95A>T and not c.95T>A; heterozygous PubMed: Fernandez-Martinez 2011 - - Unknown ? - - - - DNA SEQ - - retinal disease 99440 PubMed: Fernandez-Martinez 2011 - ? - - - - - - - 1 LOVD
?/. - c.95A>T r.(?) p.(Met32Leu) Unknown - VUS g.21762845T>A g.21294686T>A RPGRIP1 c.95T>A, M32L - RPGRIP1_000017 error in annotation, M32L is actually caused by c.95A>T and not c.95T>A; heterozygous PubMed: Fernandez-Martinez 2011 - - Unknown ? - - - - DNA SEQ - - retinal disease 13718 PubMed: Fernandez-Martinez 2011 - ? - - - - - - - 1 LOVD
?/. - c.95A>T r.(?) p.(Met32Leu) Unknown - VUS g.21762845T>A g.21294686T>A RPGRIP1 c.95T>A, M32L - RPGRIP1_000017 error in annotation, M32L is actually caused by c.95A>T and not c.95T>A; heterozygous PubMed: Fernandez-Martinez 2011 - - Unknown ? - - - - DNA SEQ - - retinal disease 17163 PubMed: Fernandez-Martinez 2011 - ? - - - - - - - 1 LOVD
?/. - c.95A>T r.(?) p.(Met32Leu) Unknown - VUS g.21762845T>A g.21294686T>A RPGRIP1 c.95T>A, M32L - RPGRIP1_000017 error in annotation, M32L is actually caused by c.95A>T and not c.95T>A; heterozygous PubMed: Fernandez-Martinez 2011 - - Unknown ? - - - - DNA SEQ - - retinal disease 17483 PubMed: Fernandez-Martinez 2011 - ? - - - - - - - 1 LOVD
-/. - c.95T>A r.(?) p.(Met32Lys) Unknown - benign g.21762845T>A g.21294686T>A RPGRIP1(NM_020366.3):c.95T>A (p.M32K), RPGRIP1(NM_020366.4):c.95T>A (p.M32K) - RPGRIP1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.95T>A r.(?) p.(Met32Lys) Unknown - likely benign g.21762845T>A g.21294686T>A RPGRIP1(NM_020366.3):c.95T>A (p.M32K), RPGRIP1(NM_020366.4):c.95T>A (p.M32K) - RPGRIP1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.95T>A r.(?) p.(Met32Lys) Unknown - likely benign g.21762845T>A - RPGRIP1(NM_020366.3):c.95T>A (p.M32K), RPGRIP1(NM_020366.4):c.95T>A (p.M32K) - RPGRIP1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.153T>C r.(?) p.(Phe51=) Unknown - benign g.21762903T>C g.21294744T>C RPGRIP1(NM_020366.4):c.153T>C (p.F51=) - RPGRIP1_000096 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2 c.154C>T r.(?) p.(Arg52*) Parent #1 - pathogenic g.21762904C>T g.21294745C>T - - RPGRIP1_000003 - PubMed: Abu-Safieh-2013 - - Germline - - - - - DNA SEQ - - ? - PubMed: Abu-Safieh-2013 - - - - - - - - - 1 Leen Abu Safieh
+/. 2 c.154C>T r.(?) p.(Arg52*) Parent #2 - pathogenic g.21762904C>T g.21294745C>T - - RPGRIP1_000003 - PubMed: Abu-Safieh-2013 - - Germline - - - - - DNA SEQ - - ? - PubMed: Abu-Safieh-2013 - - - - - - - - - 1 Leen Abu Safieh
+/. - c.154C>T r.(?) p.(Arg52*) Both (homozygous) - pathogenic g.21762904C>T g.21294745C>T - - RPGRIP1_000003 - PubMed: Zenteno 2020 - - Germline - 1/143 cases - - - DNA SEQ, SEQ-NG - 199 gene panel retinal disease 3275 PubMed: Zenteno 2020 single patient - - Mexico - - - - - 1 Johan den Dunnen
+/. - c.154C>T r.(?) p.(Arg52*) Parent #1 ACMG pathogenic g.21762904C>T g.21294745C>T RPGRIP1 NM_020366: g.6807C>T, c.154C>T, p.R52X - RPGRIP1_000003 - PubMed: Xu 2020 - - Germline yes - - - - DNA SEQ-NG - targeted next-generation sequencing retinal disease 10219 PubMed: Xu 2020 - ? no China - - - - - 1 LOVD
+/. - c.154C>T r.(?) p.(Arg52*) Parent #1 ACMG pathogenic g.21762904C>T g.21294745C>T RPGRIP1 NM_020366: g.6807C>T, c.154C>T, p.R52X - RPGRIP1_000003 - PubMed: Xu 2020 - - Germline yes - - - - DNA SEQ-NG - targeted next-generation sequencing retinal disease 19310 PubMed: Xu 2020 - ? no China - - - - - 1 LOVD
+?/. 2 c.154C>T r.(?) p.(Arg52*) Unknown - likely pathogenic (recessive) g.21762904C>T - c.154C>T - RPGRIP1_000003 - PubMed: Liu-2020 - - Germline - - - - - DNA SEQ-NG - hereditary eye disease enrichment panel (HEDEP) retinal disease - PubMed: Liu-2020 - F - - - - - - - 1 LOVD
+?/. 2 c.154C>T r.(?) p.(Arg52*) Unknown - likely pathogenic (recessive) g.21762904C>T - c.154C>T - RPGRIP1_000003 - PubMed: Liu-2020 - - Germline - - - - - DNA SEQ-NG - hereditary eye disease enrichment panel (HEDEP) retinal disease - PubMed: Liu-2020 - F - - - - - - - 1 LOVD
+?/. 2 c.154C>T r.(?) p.Arg52* Parent #1 - likely pathogenic g.21762904C>T g.21294745C>T RPGRIP1 c.154C>T, p.Arg52* - RPGRIP1_000003 compound heterozygous PubMed: Huang 2017 - - Germline yes - - - - DNA SEQ-NG, SEQ - Targeted next generation sequencing retinal disease 24 PubMed: Huang 2017 - F - China - - - - - 1 LOVD
+/. - c.176del r.(?) p.(Leu59TrpfsTer2) Unknown - pathogenic g.21762926del g.21294767del RPGRIP1(NM_020366.4):c.176delT (p.L59Wfs*2) - RPGRIP1_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.194G>A r.(?) p.(Trp65*) Unknown ACMG pathogenic g.21762944G>A g.21294785G>A RPGRIP1 c.194G>A, p.(Trp65*), MAKBBS10 c.1367_1368insT, p.(Lys456Asnfs*12), c.271dup, p.(Cys91Leufs*5) - RPGRIP1_000205 single heterozygous variant (recessive) PubMed: Jespersgaar 2019 - - Germline ? - - - - DNA SEQ-NG-I blood 125 genes associated with inherited retinal disorders, see paper supplemental data retinal disease 465 PubMed: Jespersgaar 2019 - ? - Denmark - - - - - 1 LOVD
+?/. - c.194G>A r.(?) p.(Trp65*) Maternal (confirmed) - likely pathogenic g.21762944G>A g.21294785G>A RPGRIP1 Trp65Ter - RPGRIP1_000205 no nucleotide annotation, extrapolated from sequence; heterozygous PubMed: Dryja 2001 - - Germline yes - - - - DNA SEQ - - retinal disease 048-044 PubMed: Dryja 2001 family #9414, proband F - United States - - - - - 1 LOVD
+?/. 2i c.218+2T>A r.spl? p.(?) Both (homozygous) - likely pathogenic g.21762970T>A - c.218+2T>A - RPGRIP1_000291 - PubMed: Panneman 2023 - - Unknown - - - - - DNA SEQ - RP-LCA smMIPs sequencing RP - PubMed: Panneman 2023 - M - - - - - - - 1 Daan Panneman
?/. - c.218+6T>C r.(=) p.(=) Unknown - VUS g.21762974T>C - RPGRIP1(NM_020366.3):c.218+6T>C - RPGRIP1_000119 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.218+13C>G r.(=) p.(=) Unknown - benign g.21762981C>G g.21294822C>G RPGRIP1(NM_020366.4):c.218+13C>G - RPGRIP1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 1i_2i c.218+2563_218+2564ins[85+1939_218+2415;218+2551_218+2563] r.? p.? Parent #2 - pathogenic (recessive) g.21765531_21765532ins[21758159_21765383;21765519_21765531] g.21297372_21297373ins[21290000_21297224;21297360_21297372] - - RPGRIP1_000241 - PubMed: Jamshidi 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - - retinal disease 281-608 PubMed: Jamshidi 2019 2-generation family, affected sister/brother, unaffected parents F;M - United States - - - - - 2 Johan den Dunnen
+/. 3 c.242T>A r.(?) p.(Leu81*) Unknown - pathogenic g.21769148T>A - 242T>A - RPGRIP1_000190 - PubMed: li 2011 - - Germline - 1/87 cases; 0/96 controls - - - DNA PCR, SEQ blood - retinal disease - PubMed: li 2011 - F no China Chinese - - - - 1 LOVD
+/. - c.256C>T r.(?) p.(Arg86Trp) Unknown - pathogenic g.21769162C>T g.21301003C>T - - RPGRIP1_000133 - PubMed: Costa 2017 - - Germline - - - - - DNA SEQ-NG - 132-gene panel retinal disease Pat11 PubMed: Costa 2017 - F - Brazil - - - - - 1 LOVD
-/. - c.256C>T r.(?) p.(Arg86Trp) Unknown - benign g.21769162C>T - RPGRIP1(NM_020366.4):c.256C>T (p.R86W) - RPGRIP1_000133 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.268G>A r.(?) p.(Val90Ile) Parent #1 - likely pathogenic g.21769174G>A g.21301015G>A RPGRIP1, variant 1: c.2662C>T/p.R888* , variant 2: c.268G>A/p.V90I - RPGRIP1_000217 possibly solved, compound heterozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ-NG blood RET7 targeted sequencing panel - see paper retinal disease 1031 PubMed: Weisschuh 2020 Filing key number: 582, cone dystrophy, no patient Ids, consecutive numbers given M - Germany - - - - - 1 LOVD
?/. - c.268G>A r.(?) p.(Val90Ile) Unknown ACMG VUS g.21769174G>A g.21301015G>A - - RPGRIP1_000217 ACMG PM2, PP5, BP4 PubMed: Weisschuh 2024 - - Germline - - - - - DNA SEQ-NG - WGS ? SRP-1277 PubMed: Weisschuh 2024 patient, no family history M - Germany - - - - - 1 Johan den Dunnen
-/. 3 c.286_287insATA r.(?) p.(Pro96delinsHisThr) Parent #1 - benign g.21769192_21769193insATA - IVS6-16ˆ-15insATA - RPGRIP1_000141 - PubMed: Booij 2005 - - Germline - - - - - DNA DHPLC, PCR, SEQ - - retinal disease - PubMed: Booij 2005 - - - - - - - - - 1 Julia Lopez
-/. - c.287C>A r.(?) p.(Pro96Gln) Unknown - benign g.21769193C>A g.21301034C>A RPGRIP1(NM_020366.3):c.287C>A (p.P96Q) - RPGRIP1_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.287C>A r.(?) p.(Pro96Gln) Parent #1 - likely benign g.21769193C>A g.21301034C>A - - RPGRIP1_000019 209 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs1040904 Germline - 209/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 209 Mohammed Faruq
-?/. - c.287C>A r.(?) p.(Pro96Gln) Both (homozygous) - likely benign g.21769193C>A g.21301034C>A - - RPGRIP1_000019 5 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs1040904 Germline - 5/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 5 Mohammed Faruq
?/. - c.320_322del r.(?) p.(Ala107del) Unknown - VUS g.21769226_21769228del g.21301067_21301069del c.320_322delCGG - RPGRIP1_000176 - PubMed: Wang 2014 - - Germline - - - - - DNA SEQ-NG - 66-gene panel retinal disease 13 PubMed: Wang 2014 - F - United States - - - - - 1 LOVD
+?/. - c.331C>T r.(?) p.(Gln111Ter) Unknown ACMG likely pathogenic (recessive) g.21769237C>T g.21301078C>T - - RPGRIP1_000304 ACMG PM2, PVS1 PubMed: Weisschuh 2024 - - Germline - - - - - DNA SEQ-NG - WGS ? CRD-775 PubMed: Weisschuh 2024 patient, no family history F - Germany - - - - - 1 Johan den Dunnen
?/. - c.353G>A r.(?) p.(Arg118His) Unknown - VUS g.21769259G>A g.21301100G>A RPGRIP1(NM_020366.4):c.353G>A (p.R118H) - RPGRIP1_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 3 c.358C>T r.(?) p.(Gln120*) Unknown - pathogenic g.21769264C>T - 358C>T - RPGRIP1_000191 - PubMed: li 2011 - - Germline - 3/87 cases; 0/96 controls - - - DNA PCR, SEQ blood - retinal disease - PubMed: li 2011 - M no China Chinese - - - - 1 LOVD
+/. 3 c.358C>T r.(?) p.(Gln120*) Unknown - pathogenic g.21769264C>T - 358C>T - RPGRIP1_000191 - PubMed: li 2011 - - Germline - 3/87 cases; 0/96 controls - - - DNA PCR, SEQ blood - retinal disease - PubMed: li 2011 - F no China Chinese - - - - 1 LOVD
+/. 3 c.358C>T r.(?) p.(Gln120*) Unknown - pathogenic g.21769264C>T - 358C>T - RPGRIP1_000191 - PubMed: li 2011 - - Germline - 3/87 cases; 0/96 controls - - - DNA PCR, SEQ blood - retinal disease - PubMed: li 2011 - F no China Chinese - - - - 1 LOVD
+/. - c.367C>T r.(?) p.(Arg123Ter) Parent #1 - pathogenic g.21769273C>T g.21301114C>T - - RPGRIP1_000162 - PubMed: Wang 2015 - - Germline - - - - - DNA SEQ-NG - 163-gene panel retinal disease 93 PubMed: Wang 2015 index case - - China - - - - - 1 LOVD
+/. - c.367C>T r.(?) p.(Arg123*) Unknown ACMG pathogenic g.21769273C>T g.21301114C>T RPGRIP1 NM_020366: g.13176C>T, c.367C>T, p.R123X - RPGRIP1_000162 single heterozygous PubMed: Xu 2020 - - Unknown ? - - - - DNA SEQ-NG - targeted next-generation sequencing retinal disease 19068 PubMed: Xu 2020 - ? no China - - - - - 1 LOVD
-?/. - c.372G>A r.(?) p.(Leu124=) Unknown - likely benign g.21769278G>A - RPGRIP1(NM_020366.3):c.372G>A (p.L124=) - RPGRIP1_000120 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.376G>C r.(?) p.(Gly126Arg) Unknown - likely benign g.21769282G>C g.21301123G>C RPGRIP1(NM_020366.4):c.376G>C (p.G126R) - RPGRIP1_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.403A>C r.(?) p.(Ser135Arg) Unknown - VUS g.21769309A>G g.21301150A>G RPGRIP1 c.403A>G, S135R - RPGRIP1_000263 error in annotation, S135R is not caused by c.403A>G, it causes S135G; S135R is caused by either c.403A>C or c.405C>G or c.405C>A; heterozygous PubMed: Fernandez-Martinez 2011 - - Unknown ? - - - - DNA SEQ - - retinal disease 7191 PubMed: Fernandez-Martinez 2011 - ? - - - - - - - 1 LOVD
+?/. 3 c.416C>T r.(?) p.(Ala139Val) Parent #1 - likely pathogenic g.21769322C>T g.21301163C>T - - RPGRIP1_000247 no variant 2nd chromosome PubMed: Zou 2021 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease SRF_1990 PubMed: Zou 2021 - - - China - - - - - 1 Johan den Dunnen
+?/. - c.420del r.(?) p.(Gln140Hisfs*30) Both (homozygous) - likely pathogenic g.21769326del g.21301167del RPGRIP1 c.[420delG] - RPGRIP1_000282 homozygous PubMed: Abouzeid 2016 - - Germline yes - - - - DNA SEQ-NG, SEQ - IROme, an in-house-designed enrichment system for retinal dystrophy genes retinal disease ? PubMed: Abouzeid 2016 - F yes Egypt - - - - - 1 LOVD
+?/. 3 c.430C>T r.(?) p.(Gln144*) Both (homozygous) - likely pathogenic g.21769336C>T - c.430C>T - RPGRIP1_000292 - PubMed: Panneman 2023 - - Unknown - - - - - DNA SEQ - RP-LCA smMIPs sequencing LCA - PubMed: Panneman 2023 - M - - - - - - - 1 Daan Panneman
-/. - c.450C>G r.(?) p.(Leu150=) Unknown - benign g.21769356C>G g.21301197C>G RPGRIP1(NM_020366.3):c.450C>G (p.L150=), RPGRIP1(NM_020366.4):c.450C>G (p.L150=) - RPGRIP1_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.450C>G r.(?) p.(Leu150=) Unknown - benign g.21769356C>G g.21301197C>G RPGRIP1(NM_020366.3):c.450C>G (p.L150=), RPGRIP1(NM_020366.4):c.450C>G (p.L150=) - RPGRIP1_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.453C>T r.(?) p.(His151=) Unknown - likely benign g.21769359C>T - RPGRIP1(NM_020366.3):c.453C>T (p.H151=) - RPGRIP1_000121 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 3 c.473C>T r.(?) p.(Pro158Leu) Parent #1 - likely pathogenic g.21769379C>T g.21301220C>T - - RPGRIP1_000248 no variant 2nd chromosome PubMed: Zou 2021 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease SRF_436 PubMed: Zou 2021 - - - China - - - - - 1 Johan den Dunnen
+?/. - c.487del r.(?) p.(Arg163GlyfsTer7) Unknown - likely pathogenic g.21769393del g.21301234del - - RPGRIP1_000160 - PubMed: Patel 2016 - - Germline - - - - - DNA SEQ-NG - gene panel retinal disease 13DG1103 PubMed: Patel 2016 - - - Saudi Arabia - - - - - 1 LOVD
+/. - c.490+1G>T r.spl p.? Parent #1 - pathogenic g.21769397G>T g.21301238G>T - - RPGRIP1_000163 - PubMed: Wang 2015 - - Germline - - - - - DNA SEQ-NG - 163-gene panel retinal disease 77 PubMed: Wang 2015 index case - - China - - - - - 1 LOVD
+/. - c.490+1G>T r.spl p.? Parent #1 - pathogenic g.21769397G>T g.21301238G>T - - RPGRIP1_000163 - PubMed: Wang 2015 - - Germline - - - - - DNA SEQ-NG - 163-gene panel retinal disease 79 PubMed: Wang 2015 index case - - China - - - - - 1 LOVD
?/. 3i c.491-11T>A r.(=) p.(?) Both (homozygous) - VUS g.21770636T>A - c.491-11T>A - RPGRIP1_000293 - PubMed: Panneman 2023 - - Unknown - - - - - DNA SEQ - RP-LCA smMIPs sequencing LCA - PubMed: Panneman 2023 - F - - - - - - - 1 Daan Panneman
-/. - c.491-3T>C r.spl? p.? Unknown - benign g.21770644T>C g.21302485T>C RPGRIP1(NM_020366.3):c.491-3T>C, RPGRIP1(NM_020366.4):c.491-3T>C - RPGRIP1_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.491-3T>C r.spl? p.? Unknown - likely benign g.21770644T>C g.21302485T>C RPGRIP1(NM_020366.3):c.491-3T>C, RPGRIP1(NM_020366.4):c.491-3T>C - RPGRIP1_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.511del r.(?) p.(Tyr171Thrfs*19) Both (homozygous) - likely pathogenic g.21770667del g.21302508del RPGRIP1 delT511 - RPGRIP1_000264 obsolete annotation, extrapolated from sequence; homozygous PubMed: Gerber 2001 - - Germline yes - - - - DNA SEQ - - retinal disease II:1 PubMed: Gerber 2001 Family NIL, proband's sister M yes France - - - - - 1 LOVD
+?/. - c.511del r.(?) p.(Tyr171Thrfs*19) Both (homozygous) - likely pathogenic g.21770667del g.21302508del RPGRIP1 delT511 - RPGRIP1_000264 obsolete annotation, extrapolated from sequence; heterozygous PubMed: Gerber 2001 - - Germline yes - - - - DNA SEQ - - retinal disease II:2 PubMed: Gerber 2001 Family NIL, proband's sister F - France - - - - - 1 LOVD
-/. - c.525A>G r.(?) p.(Pro175=) Unknown - benign g.21770681A>G g.21302522A>G RPGRIP1(NM_020366.3):c.525A>G (p.P175=) - RPGRIP1_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 4 c.525A>G r.(=) p.(=) Parent #1 - benign g.21770681A>G - 525A>G - RPGRIP1_000022 - PubMed: Dryja 2001; PubMed: Booij 2005 - - Germline - - - - - DNA DHPLC, PCR, SEQ - - retinal disease - PubMed: Dryja 2001 - - - - - - - - - 1 Julia Lopez
+/. - c.535del r.(?) p.(Glu179SerfsTer11) Unknown - pathogenic g.21770691del g.21302532del RPGRIP1(NM_020366.3):c.535delG (p.E179Sfs*11) - RPGRIP1_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.535del r.(?) p.(Glu179SerfsTer11) Both (homozygous) - likely pathogenic g.21770691del g.21302532del c.534delG p.K178fs - RPGRIP1_000023 - PubMed: Wang 2016 - - Germline - - - - - DNA SEQ-NG - gene panel retinal disease Fam26 PubMed: Wang 2016 family, 1 affected, unaffected heterozygous carrier parents/relatives - - China Han - - - - 1 LOVD
+?/. - c.535del r.(?) p.(Glu179SerfsTer11) Both (homozygous) - likely pathogenic g.21770691del g.21302532del c.534delG p.K178fs - RPGRIP1_000023 - PubMed: Wang 2016 - - Germline - - - - - DNA SEQ-NG - gene panel retinal disease Fam27 PubMed: Wang 2016 family, 1 affected, unaffected heterozygous carrier parents/relatives - - China Han - - - - 1 LOVD
+?/. - c.535del r.(?) p.(Glu179SerfsTer11) Parent #1 - likely pathogenic (recessive) g.21770691del g.21302532del - - RPGRIP1_000023 - PubMed: Huang 2016 - - Germline - - - - - DNA SEQ-NG - WES retinal disease QT1117 PubMed: Huang 2016 - - - China - - - - - 1 Johan den Dunnen
+/. - c.535del r.(?) p.(Glu179SerfsTer11) Both (homozygous) - pathogenic g.21770691del g.21302532del 534delG - RPGRIP1_000023 - PubMed: Wang 2015 - - Germline - - - - - DNA SEQ-NG - 163-gene panel retinal disease 87 PubMed: Wang 2015 index case - - China - - - - - 1 LOVD
+/. - c.535del r.(?) p.(Glu179SerfsTer11) Parent #1 - pathogenic g.21770691del g.21302532del 534delG - RPGRIP1_000023 - PubMed: Wang 2015 - - Germline - - - - - DNA SEQ-NG - 163-gene panel retinal disease 103 PubMed: Wang 2015 index case - - China - - - - - 1 LOVD
+/. - c.535del r.(?) p.(Glu179SerfsTer11) Parent #1 - pathogenic g.21770691del g.21302532del 534delG - RPGRIP1_000023 - PubMed: Wang 2015 - - Germline - - - - - DNA SEQ-NG - 163-gene panel retinal disease 153 PubMed: Wang 2015 index case - - China - - - - - 1 LOVD
-/. 4 c.535del r.(?) p.(Glu179Serfs*11) Both (homozygous) - benign g.21770691del g.21302532del 535delG - RPGRIP1_000192 - PubMed: li 2011 - - Germline - 1/87 cases; 0/96 controls - - - DNA PCR, SEQ blood - retinal disease - PubMed: li 2011 - F no China Chinese - - - - 1 LOVD
+?/. 4 c.535del r.(?) p.(Glu179Serfs*11) Both (homozygous) - likely pathogenic g.21770691delG - c.[535delG];[535delG] - RPGRIP1_000192 - PubMed: Chen-2013 - - Germline - 0/384 controls - - - DNA SEQ blood - retinal disease - PubMed: Chen-2013 - F - China Chinese - - - - 1 LOVD
-?/. 4 c.535del r.(?) p.(Glu179Serfs*11) Unknown - likely benign g.21770691delG - c.535delG - RPGRIP1_000192 - PubMed: Chen-2013 - - Unknown - - - - - DNA SEQ blood - retinal disease - PubMed: Chen-2013 - - - China Chinese - - - - 1 LOVD
+/. - c.535delG r.(?) p.(Glu179Serfs*11) Parent #1 ACMG pathogenic g.21770691del g.21302532del RPGRIP1 NM_020366: g.14594delG, c.535delG, p.E179Sfs11 - RPGRIP1_000023 - PubMed: Xu 2020 - - Germline yes - - - - DNA SEQ-NG - targeted next-generation sequencing retinal disease 19929 PubMed: Xu 2020 - ? no China - - - - - 1 LOVD
+/. - c.535delG r.(?) p.(Glu179Serfs*11) Parent #2 ACMG pathogenic g.21770691del g.21302532del RPGRIP1 NM_020366: g.14594delG, c.535delG, p.E179Sfs11 - RPGRIP1_000023 - PubMed: Xu 2020 - - Germline yes - - - - DNA SEQ-NG - targeted next-generation sequencing retinal disease 67310 PubMed: Xu 2020 - ? no China - - - - - 1 LOVD
+/. - c.535delG r.(?) p.(Glu179Serfs*11) Parent #2 ACMG pathogenic g.21770691del g.21302532del RPGRIP1 NM_020366: g.14594delG, c.535delG, p.E179Sfs11 - RPGRIP1_000023 - PubMed: Xu 2020 - - Germline yes - - - - DNA SEQ-NG - targeted next-generation sequencing retinal disease 191060 PubMed: Xu 2020 - ? no China - - - - - 1 LOVD
-/. 4 c.560G>T r.(?) p.(Gly187Val) Unknown - benign g.21770716G>T - 560G?T - RPGRIP1_000177 - PubMed: Li-2009 - - Germline - - - - - DNA PCR, SEQ blood - retinal disease - PubMed: Li-2009 - - - - Saudi Arabian - - - - 1 LOVD
?/. - c.563A>C r.(?) p.(Glu188Ala) Unknown - VUS g.21770719A>C g.21302560A>C RPGRIP1(NM_020366.3):c.563A>C (p.E188A) - RPGRIP1_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.564A>G r.[(565_587del,491_587del)] p.? Parent #1 - likely pathogenic g.21770720A>G g.21302561A>G - - RPGRIP1_000134 effect on splicing predicted from mini-gene splicing assay PubMed: Soens 2017 - - Germline - - - - - DNA SEQ - - retinal disease DGB_032 PubMed: Soens 2017 possible duplicate - - - - - - - - 1 LOVD
-/. 4 c.574A>G r.(?) p.(Lys192Glu) Parent #1 - benign g.21770730A>G g.21302571A>G - - RPGRIP1_000001 predicted benign PubMed: Neveling 2012 - - Germline no - - - - DNA SEQ, SEQ-NG-S - - retinal disease - - - F - - - - - - - 1 Kornelia Neveling
-/. - c.574A>G r.(?) p.(Lys192Glu) Unknown - benign g.21770730A>G g.21302571A>G RPGRIP1(NM_020366.3):c.574A>G (p.K192E), RPGRIP1(NM_020366.4):c.574A>G (p.K192E) - RPGRIP1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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