Full data view for gene RLBP1

This database is one of the "Eye disease" gene variant databases.
Information The variants shown are described using the NM_000326.4 transcript reference sequence.

277 entries on 3 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     

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Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+?/. 6i_9_ c.(525+1_526-1)_*418{0}5 r.? p.? Both (homozygous) ACMG likely pathogenic g.(89755133_89758290)_(89753098_?)del g.(89211902_89215059)_(89209867_?)del del ex7-9, (?_526)_(954_?)del - RLBP1_000076 - PubMed: Hitti-Malin 2022, Journal: Hitti-Malin 2022 - - Germline - - - - - DNA MIPsm - smMIPs 105 iMD/AMD genes retinal disease 070904 PubMed: Hitti-Malin 2022, Journal: Hitti-Malin 2022 - M - - - - - - - 1 Rebekkah Hitti-Malin
+?/. - c.(526+1_527-1)_(954+?)del r.? p.(Ile176Argfs*36) Parent #2 - likely pathogenic g.? - c.(526+1_527-1)_(954+?)del - IGF1R_000000 - PubMed: Panneman 2023 - - Unknown - - - - - DNA SEQ - RP-LCA smMIPs sequencing retinal disease - PubMed: Panneman 2023 - F - - - - - - - 1 Daan Panneman
?/. - c.-70G>A r.(?) p.(?) Paternal (confirmed) - VUS g.89762276C>T g.89219045C>T RLBP1 c.-70 G > A, p.(?), rs3743384 - RLBP1_000066 heterozygous PubMed: Donato-2021 - rs3743384 Germline yes - - - - DNA SEQ blood Sanger sequencing of 4 genes retinal disease II:1 PubMed: Donato-2021 - M yes Egypt - - - - - 1 LOVD
?/. - c.-70G>A r.(?) p.(?) Paternal (confirmed) - VUS g.89762276C>T g.89219045C>T RLBP1 c.-70 G > A, p.(?), rs3743384 - RLBP1_000066 heterozygous PubMed: Donato-2021 - rs3743384 Germline yes - - - - DNA SEQ blood Sanger sequencing of 4 genes retinal disease II:2 PubMed: Donato-2021 - M yes Egypt - - - - - 1 LOVD
+/. 6i_9i c.? r.? p.? Both (homozygous) - pathogenic (recessive) g.? - del ex7-9 - IGF1R_000000 - PubMed: Bocquet 2013 - - Germline - - - - - DNA SEQ - - retinal disease RP517 PubMed: Bocquet 2013 2-generation family, 1 affected M yes France - - - - - 1 Johan den Dunnen
-?/. 4 c.? r.? p.? Unknown - likely benign g.? - c.40C>T - IGF1R_000000 - PubMed: Golovleva-2010 - - Germline - - - - - DNA PCR, RFLP blood - retinal disease - PubMed: Golovleva-2010 unaffected patient's mother 223:3, no signs of retinal degenerative changes F - Sweden - - - - - 1 LOVD
-?/. 4 c.? r.? p.? Unknown - likely benign g.? - c.40C>T - IGF1R_000000 - PubMed: Golovleva-2010 - - Germline - 6/143 healthy blood donors - - - DNA PCR, RFLP, PE blood - retinal disease - PubMed: Golovleva-2010 - - - Sweden - - - - - 1 LOVD
+?/. - c.? r.0? p.0? Unknown - likely pathogenic g.89750128_89757489del - chr15:g.89750128_89757489del - IGF1R_000000 heterozygous PubMed: Turro 2020 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG-I blood whole genome sequencing retinal disease G001296 PubMed: Turro 2020 only individuals with mutations in retinal disease genes from this publication were inserted into LOVD ? - (United Kingdom (Great Britain)) - - - - - 1 LOVD
+?/. - c.? r.0? p.0? Both (homozygous) - likely pathogenic g.89750128_89757489del - chr15:g.89750128_89757489del - IGF1R_000000 homozygous PubMed: Turro 2020 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG-I blood whole genome sequencing retinal disease W000139 PubMed: Turro 2020 only individuals with mutations in retinal disease genes from this publication were inserted into LOVD ? - - - - - - - 1 LOVD
+?/. - c.? r.(?) p.(?) Paternal (confirmed) - likely pathogenic g.? g.? 7.36-kb homozygous deletion encompassing the last 3 exons of RLBP1 (7, 8, and 9) and part of the intergenic region between RLBP1 and ABHD2 - IGF1R_000000 homozygous PubMed: Humbert 2006 - - Germline yes - - - - DNA SEQ - - retinal disease ? PubMed: Humbert 2006 - M yes France Moroccan - - - - 1 LOVD
+?/. - c.? r.(?) p.(?) Both (homozygous) - likely pathogenic g.? g.? Exons7_9del/Exons7_9del - IGF1R_000000 deletion of exons 7 through 9; homozygous PubMed: Dessalces 2013 - - Germline yes - - - - DNA SEQ - - retinal disease MTP702_II-7 PubMed: Dessalces 2013 - M no - Morocco - - - - 1 LOVD
+?/. - c.? r.(?) p.(?) Both (homozygous) - likely pathogenic g.? g.? Exons7_9del/Exons7_9del - IGF1R_000000 deletion of exons 7 through 9; homozygous PubMed: Dessalces 2013 - - Germline yes - - - - DNA SEQ - - retinal disease MTP1633_III-1 PubMed: Dessalces 2013 - F yes - Morocco - - - - 1 LOVD
+?/. - c.? r.(?) p.(?) Both (homozygous) - likely pathogenic g.? g.? Exons7_9del/Exons7_9del - IGF1R_000000 deletion of exons 7 through 9; homozygous PubMed: Dessalces 2013 - - Germline yes - - - - DNA SEQ - - retinal disease MTP1633_III-2 PubMed: Dessalces 2013 - M yes - Morocco - - - - 1 LOVD
+?/. - c.? r.(?) p.(?) Both (homozygous) - likely pathogenic g.? g.? Exons7_9del/Exons7_9del - IGF1R_000000 deletion of exons 7 through 9; homozygous PubMed: Dessalces 2013 - - Germline yes - - - - DNA SEQ - - retinal disease MTP1633_III-3 PubMed: Dessalces 2013 - F yes - Morocco - - - - 1 LOVD
+?/. - c.? r.(?) p.(?) Both (homozygous) - likely pathogenic g.? g.? Exons7_9del/Exons7_9del - IGF1R_000000 deletion of exons 7 through 9; homozygous PubMed: Dessalces 2013 - - Germline yes - - - - DNA SEQ - - retinal disease MTP1554_III-1 PubMed: Dessalces 2013 - F yes - Morocco - - - - 1 LOVD
+?/. - c.? r.(?) p.(?) Both (homozygous) - likely pathogenic g.? g.? Exons7_9del/Exons7_9del - IGF1R_000000 deletion of exons 7 through 9; homozygous PubMed: Dessalces 2013 - - Germline yes - - - - DNA SEQ - - retinal disease MTP1789_II-3 PubMed: Dessalces 2013 - M no - Morocco - - - - 1 LOVD
+?/. - c.? r.(?) p.(?) Both (homozygous) - likely pathogenic g.? g.? Exons7_9del/Exons7_9del - IGF1R_000000 deletion of exons 7 through 9; homozygous PubMed: Dessalces 2013 - - Germline yes - - - - DNA SEQ - - retinal disease MTP1838_III-6 PubMed: Dessalces 2013 - F yes - Morocco - - - - 1 LOVD
+?/. - c.? r.(?) p.(?) Both (homozygous) - likely pathogenic g.? g.? Exons7_9del/Exons7_9del - IGF1R_000000 deletion of exons 7 through 9; homozygous PubMed: Dessalces 2013 - - Germline yes - - - - DNA SEQ - - retinal disease MTP1838_IV-1 PubMed: Dessalces 2013 - M yes - Morocco - - - - 1 LOVD
+/. 3i c.13-2_13-1delinsCC r.spl? p.? Unknown - pathogenic (recessive) g.89761925_89761926delinsGG - c.(13-2)_(13-1)delinsCC - RLBP1_000069 - PubMed: Colombo-2020 - - Germline - - - - - DNA SEQ - - retinal disease - PubMed: Colombo-2020 - F no - - - - - - 1 LOVD
+?/. - c.13-1G>C r.spl p.? Unknown ACMG likely pathogenic g.89761925C>G g.89218694C>G RLBP1 c.13-1G>C, p.? - RLBP1_000079 compound heterozygous, probably causal PubMed: Zhu 2022 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG, SEQ saliva panel-based next generation sequencing retinal disease 47_56 PubMed: Zhu 2022 family 47, individual 56 M - - - - - - - 1 LOVD
+?/. - c.25C>T r.(?) p.(Arg9Cys) Both (homozygous) - likely pathogenic g.89761912G>A g.89218681G>A - - RLBP1_000044 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 476 PubMed: Stone 2017 1 affected F - (United States) - - - - - 1 LOVD
+?/. - c.25C>T r.(?) p.(Arg9Cys) Paternal (inferred) - likely pathogenic g.89761912G>A g.89218681G>A p.R9C/p.Y111stop - RLBP1_000044 heterozygous PubMed: Dessalces 2013 - - Germline yes 0/112 alleles - - - DNA SEQ - - retinal disease MTP1254_II-1 PubMed: Dessalces 2013 - M no - France - - - - 1 LOVD
+/. - c.25C>T r.(?) p.(Arg9Cys) Paternal (confirmed) - pathogenic g.89761912G>A g.89218681G>A RLBP1 c.25C T:pArg9Cys - RLBP1_000044 heterozygous PubMed: Lima-de-Carvalho 2020 - - Germline yes - - - - DNA SEQ blood - retinal disease II-1 PubMed: Lima-de-Carvalho 2020 - F - - - - - - - 1 LOVD
+/. - c.25C>T r.(?) p.(Arg9Cys) Paternal (confirmed) - pathogenic g.89761912G>A g.89218681G>A RLBP1 c.25C T:pArg9Cys - RLBP1_000044 heterozygous PubMed: Lima-de-Carvalho 2020 - - Germline yes - - - - DNA SEQ blood - retinal disease II-2 PubMed: Lima-de-Carvalho 2020 - F - - - - - - - 1 LOVD
+/. 4 c.34_44del r.(?) p.(Pro12Thrfs*36) Unknown ACMG pathogenic g.89761894_89761904del g.89218663_89218673del NM_000326.4:c.34_44del, NP_000317.1:p.(Pro12ThrfsTer36), NC_000015.9:g.89761894_89761904del - RLBP1_000056 - PubMed: Wang 2018 - - Germline ? - - - - DNA SEQ-NG - panel of 441 hereditary eye disease genes including 291 genes related to IRD retinal disease 2016112801 PubMed: Wang 2018 - M ? China Han Chinese - - - - 1 LOVD
+?/. 4 c.34_44del r.(?) p.(Pro12Thrfs*36) Unknown - likely pathogenic (recessive) g.89761893_89761903del - c.34_44del11bp - RLBP1_000056 - PubMed: Liu-2020 - - Germline - - - - - DNA SEQ-NG - hereditary eye disease enrichment panel (HEDEP) retinal disease - PubMed: Liu-2020 - M - - - - - - - 1 LOVD
?/. - c.40G>C r.(?) p.(Glu14Gln) Unknown ACMG VUS g.89761897C>G g.89218666C>G - - RLBP1_000083 ACMG PM2; no variant 2nd chromosome PubMed: Weisschuh 2024 - - Germline - - - - - DNA SEQ-NG - WGS ? MDS-456 PubMed: Weisschuh 2024 patient M - Germany - - - - - 1 Johan den Dunnen
?/. - c.42G>T r.(?) p.(Glu14Asp) Unknown - VUS g.89761895C>A g.89218664C>A - - RLBP1_000021 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - - Germline - 2/1204 cases with retinitis pigmentosa - - - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - 2 Yoshito Koyanagi
?/. - c.55C>T r.(?) p.(Arg19Cys) Unknown - VUS g.89761882G>A g.89218651G>A - - RLBP1_000020 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs369127471 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
?/. - c.55C>T r.(?) p.(Arg19Cys) Unknown ACMG VUS g.89761882G>A g.89218651G>A RLBP1 c.55C>T(;)282del, V1: c.55C>T, (p.Arg19Cys) - RLBP1_000020 alleles in cis or trans; heterozygous PubMed: Chen 2021 - - Unknown ? - - - - DNA SEQ-NG blood 212 inherited retinal disease-related genes retinal disease F109 PubMed: Chen 2021 - ? - Taiwan - - - - - 1 LOVD
?/. - c.55C>T r.(?) p.(Arg19Cys) Unknown - VUS g.89761882G>A g.89218651G>A RLBP1 c.55C>T(;)282del; p.(Arg19Cys) - RLBP1_000020 heterozygous PubMed: Chen 2021 - - Germline/De novo (untested) ? Taiwan Biobank: 0; GnomAD_exome_East: 0; GnomAD_All: 0.00000796 - - - DNA SEQ-NG - targeted 212 IRD-related genes retinal disease F109 PubMed: Chen 2021 - - - Taiwan - - - - - 1 LOVD
-?/. - c.57T>C r.(?) p.(Arg19=) Unknown - likely benign g.89761880A>G g.89218649A>G RLBP1(NM_000326.4):c.57T>C (p.R19=) - RLBP1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.79del r.(?) p.(Thr27Profs*26) Both (homozygous) ACMG pathogenic (recessive) g.89761858del g.89218627del 79delA - RLBP1_000036 ACMG PVS1, PM2, PP1 PubMed: Al-Bdour 2020 - rs1567124404 Germline yes - - - - DNA SEQ, SEQ-NG - WES retinal disease Fam4 PubMed: Al-Bdour 2020 5-generation family, 11 affected (7F, 4M), unaffected heterozygous carrier parents/relatives F;M yes Jordan - - - - - 11 Johan den Dunnen
?/. - c.124C>T r.(?) p.(Arg42Cys) Unknown - VUS g.89761813G>A g.89218582G>A RLBP1(NM_000326.4):c.124C>T (p.R42C) - RLBP1_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.126C>T r.(?) p.(Arg42=) Unknown - likely benign g.89761811G>A g.89218580G>A RLBP1(NM_000326.4):c.126C>T (p.R42=), RLBP1(NM_000326.5):c.126C>T (p.R42=) - RLBP1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.126C>T r.(?) p.(Arg42=) Unknown - benign g.89761811G>A g.89218580G>A RLBP1(NM_000326.4):c.126C>T (p.R42=), RLBP1(NM_000326.5):c.126C>T (p.R42=) - RLBP1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 4 c.141G>A r.(?) p.[Lys47=;?] Both (homozygous) - likely pathogenic g.89761796C>T g.89218565C>T 324G>A - RLBP1_000074 annotation obsolete, this change is probably c.141G>A; silent mutation with a strong suspiction of splicing alteration; homozygous PubMed: Eichers 2002 - rs766278489 Germline yes - - - - DNA STR, SEQ - - retinal disease - PubMed: Eichers 2002 First loop of NF-001, no consanguinity - no - - - - - - 1 LOVD
+?/. 4 c.141G>A r.(?) p.[Lys47=;?] Both (homozygous) - likely pathogenic g.89761796C>T g.89218565C>T 324G>A - RLBP1_000074 annotation obsolete, this change is probably c.141G>A; silent mutation with a strong suspiction of splicing alteration; homozygous PubMed: Eichers 2002 - rs766278489 Germline yes - - - - DNA STR, SEQ - - retinal disease - PubMed: Eichers 2002 First loop of NF-001, no consanguinity - no - - - - - - 1 LOVD
+?/. 4 c.141G>A r.(?) p.[Lys47=;?] Both (homozygous) - likely pathogenic g.89761796C>T g.89218565C>T 324G>A - RLBP1_000074 annotation obsolete, this change is probably c.141G>A; silent mutation with a strong suspiction of splicing alteration; homozygous PubMed: Eichers 2002 - rs766278489 Germline yes - - - - DNA STR, SEQ - - retinal disease - PubMed: Eichers 2002 Second loop of NF-001, no consanguinity - no - - - - - - 1 LOVD
+?/. 4 c.141G>A r.(?) p.[Lys47=;?] Both (homozygous) - likely pathogenic g.89761796C>T g.89218565C>T 324G>A - RLBP1_000074 annotation obsolete, this change is probably c.141G>A; silent mutation with a strong suspiction of splicing alteration; homozygous PubMed: Eichers 2002 - rs766278489 Germline yes - - - - DNA STR, SEQ - - retinal disease - PubMed: Eichers 2002 Second loop of NF-001, no consanguinity - no - - - - - - 1 LOVD
+?/. 4 c.141G>A r.(?) p.[Lys47=;?] Both (homozygous) - likely pathogenic g.89761796C>T g.89218565C>T 324G>A - RLBP1_000074 annotation obsolete, this change is probably c.141G>A; silent mutation with a strong suspiction of splicing alteration; homozygous PubMed: Eichers 2002 - rs766278489 Germline yes - - - - DNA STR, SEQ - - retinal disease - PubMed: Eichers 2002 Second loop of NF-001, no consanguinity - no - - - - - - 1 LOVD
+?/. 4 c.141G>A r.(?) p.[Lys47=;?] Both (homozygous) - likely pathogenic g.89761796C>T g.89218565C>T 324G>A - RLBP1_000074 annotation obsolete, this change is probably c.141G>A; silent mutation with a strong suspiction of splicing alteration; homozygous PubMed: Eichers 2002 - rs766278489 Germline yes - - - - DNA STR, SEQ - - retinal disease - PubMed: Eichers 2002 Family NF-003 - no - - - - - - 1 LOVD
+?/. 4 c.141G>A r.(?) p.[Lys47=;?] Both (homozygous) - likely pathogenic g.89761796C>T g.89218565C>T 324G>A - RLBP1_000074 annotation obsolete, this change is probably c.141G>A; silent mutation with a strong suspiction of splicing alteration; homozygous PubMed: Eichers 2002 - rs766278489 Germline yes - - - - DNA STR, SEQ - - retinal disease - PubMed: Eichers 2002 Family NF-004 - no - - - - - - 1 LOVD
+?/. 4 c.141G>A r.(?) p.[Lys47=;?] Both (homozygous) - likely pathogenic g.89761796C>T g.89218565C>T 324G>A - RLBP1_000074 annotation obsolete, this change is probably c.141G>A; silent mutation with a strong suspiction of splicing alteration; homozygous PubMed: Eichers 2002 - rs766278489 Germline yes - - - - DNA STR, SEQ - - retinal disease - PubMed: Eichers 2002 Family NF-004 - no - - - - - - 1 LOVD
+?/. 4 c.141G>A r.(?) p.[Lys47=;?] Both (homozygous) - likely pathogenic g.89761796C>T g.89218565C>T 324G>A - RLBP1_000074 annotation obsolete, this change is probably c.141G>A; silent mutation with a strong suspiction of splicing alteration; homozygous PubMed: Eichers 2002 - rs766278489 Germline yes - - - - DNA STR, SEQ - - retinal disease - PubMed: Eichers 2002 Family NF-006 - yes - - - - - - 1 LOVD
+?/. 4 c.141G>A r.(?) p.[Lys47=;?] Both (homozygous) - likely pathogenic g.89761796C>T g.89218565C>T 324G>A - RLBP1_000074 annotation obsolete, this change is probably c.141G>A; silent mutation with a strong suspiction of splicing alteration; homozygous PubMed: Eichers 2002 - rs766278489 Germline yes - - - - DNA STR, SEQ - - retinal disease - PubMed: Eichers 2002 Family NF-006 - yes - - - - - - 1 LOVD
+?/. 4 c.141G>A r.(?) p.[Lys47=;?] Both (homozygous) - likely pathogenic g.89761796C>T g.89218565C>T 324G>A - RLBP1_000074 annotation obsolete, this change is probably c.141G>A; silent mutation with a strong suspiction of splicing alteration; homozygous PubMed: Eichers 2002 - rs766278489 Germline yes - - - - DNA STR, SEQ - - retinal disease - PubMed: Eichers 2002 Family NF-006 - yes - - - - - - 1 LOVD
+?/. 4 c.141G>A r.(?) p.[Lys47=;?] Both (homozygous) - likely pathogenic g.89761796C>T g.89218565C>T 324G>A - RLBP1_000074 annotation obsolete, this change is probably c.141G>A; silent mutation with a strong suspiction of splicing alteration; homozygous PubMed: Eichers 2002 - rs766278489 Germline yes - - - - DNA STR, SEQ - - retinal disease - PubMed: Eichers 2002 Family NF-006 - yes - - - - - - 1 LOVD
+?/. 4 c.141G>A r.(?) p.[Lys47=;?] Paternal (confirmed) - likely pathogenic g.89761796C>T g.89218565C>T 324G>A - RLBP1_000074 annotation obsolete, this change is probably c.141G>A; silent mutation with a strong suspiction of splicing alteration; heterozygous PubMed: Eichers 2002 - rs766278489 Germline yes - - - - DNA STR, SEQ - - retinal disease - PubMed: Eichers 2002 Thrid loop of NF-001, no consanguinity - no - - - - - - 1 LOVD
+?/. 4 c.141G>A r.(?) p.[Lys47=;?] Paternal (confirmed) - likely pathogenic g.89761796C>T g.89218565C>T 324G>A - RLBP1_000074 annotation obsolete, this change is probably c.141G>A; silent mutation with a strong suspiction of splicing alteration; heterozygous PubMed: Eichers 2002 - rs766278489 Germline yes - - - - DNA STR, SEQ - - retinal disease - PubMed: Eichers 2002 Thrid loop of NF-001, no consanguinity - no - - - - - - 1 LOVD
+?/. 4 c.141G>A r.(?) p.[Lys47=;?] Maternal (confirmed) - likely pathogenic g.89761796C>T g.89218565C>T 324G>A - RLBP1_000074 annotation obsolete, this change is probably c.141G>A; silent mutation with a strong suspiction of splicing alteration; heterozygous PubMed: Eichers 2002 - rs766278489 Germline yes - - - - DNA STR, SEQ - - retinal disease - PubMed: Eichers 2002 Firth loop of NF-001, consanguinity (despite this, compound heterozygosity) - yes - - - - - - 1 LOVD
+?/. 4 c.141G>A r.(?) p.[Lys47=;?] Maternal (confirmed) - likely pathogenic g.89761796C>T g.89218565C>T 324G>A - RLBP1_000074 annotation obsolete, this change is probably c.141G>A; silent mutation with a strong suspiction of splicing alteration; heterozygous PubMed: Eichers 2002 - rs766278489 Germline yes - - - - DNA STR, SEQ - - retinal disease - PubMed: Eichers 2002 Family NF-005 - no - - - - - - 1 LOVD
+?/. 4 c.141G>A r.(?) p.[Lys47=;?] Maternal (confirmed) - likely pathogenic g.89761796C>T g.89218565C>T 324G>A - RLBP1_000074 annotation obsolete, this change is probably c.141G>A; silent mutation with a strong suspiction of splicing alteration; heterozygous PubMed: Eichers 2002 - rs766278489 Germline yes - - - - DNA STR, SEQ - - retinal disease - PubMed: Eichers 2002 Family NF-005 - no - - - - - - 1 LOVD
+?/. 4 c.141G>A r.(?) p.[Lys47=;?] Parent #2 - likely pathogenic g.89761796C>T g.89218565C>T 324G>A - RLBP1_000074 annotation obsolete, this change is probably c.141G>A; silent mutation with a strong suspiction of splicing alteration; heterozygous PubMed: Eichers 2002 - rs766278489 Germline yes - - - - DNA STR, SEQ - - retinal disease - PubMed: Eichers 2002 Family NF-008 - yes - - - - - - 1 LOVD
+?/. 4 c.141G>A r.(?) p.[Lys47=;?] Parent #2 - likely pathogenic g.89761796C>T g.89218565C>T 324G>A - RLBP1_000074 annotation obsolete, this change is probably c.141G>A; silent mutation with a strong suspiction of splicing alteration; heterozygous PubMed: Eichers 2002 - rs766278489 Germline yes - - - - DNA STR, SEQ - - retinal disease - PubMed: Eichers 2002 Family NF-008 - yes - - - - - - 1 LOVD
+?/. 4i c.141+2T>C r.spl p.(?) Maternal (confirmed) - likely pathogenic g.89761794A>G g.89218563A>G 1335T>C, IVS3+2 (GT to GC) - RLBP1_000073 annotation obsolete, this change is probably c.141+2T>C, transcript used not indicated but was probably different without exon 1 that is present in NM_000326.4 PubMed: Morimura 1999 - - Germline yes 0/69 controls - - - DNA SSCA, SEQ - - retinal disease 097-001 PubMed: Morimura 1999 - - - - - - - - - 1 LOVD
+?/. 4i c.141+2T>C r.spl p.(?) Maternal (confirmed) - likely pathogenic g.89761794A>G g.89218563A>G IVS3+2 T>C - RLBP1_000073 annotation obsolete, this change is probably c.141+2T>C, transcript used not indicated but was probably different without exon 1 that is present in NM_000326.4; heterozygous PubMed: Eichers 2002 - - Germline yes - - - - DNA STR, SEQ - - retinal disease - PubMed: Eichers 2002 Thrid loop of NF-001, no consanguinity - no - - - - - - 1 LOVD
+?/. 4i c.141+2T>C r.spl p.(?) Maternal (confirmed) - likely pathogenic g.89761794A>G g.89218563A>G IVS3+2 T>C - RLBP1_000073 annotation obsolete, this change is probably c.141+2T>C, transcript used not indicated but was probably different without exon 1 that is present in NM_000326.4; heterozygous PubMed: Eichers 2002 - - Germline yes - - - - DNA STR, SEQ - - retinal disease - PubMed: Eichers 2002 Thrid loop of NF-001, no consanguinity - no - - - - - - 1 LOVD
+?/. 4i c.141+2T>C r.spl p.(?) Both (homozygous) - likely pathogenic g.89761794A>G g.89218563A>G IVS3+2 T>C - RLBP1_000073 annotation obsolete, this change is probably c.141+2T>C, transcript used not indicated but was probably different without exon 1 that is present in NM_000326.4; homozygous PubMed: Eichers 2002 - - Germline yes - - - - DNA STR, SEQ - - retinal disease - PubMed: Eichers 2002 Fourth loop of NF-001, no consanguinity - no - - - - - - 1 LOVD
+?/. 4i c.141+2T>C r.spl p.(?) Paternal (confirmed) - likely pathogenic g.89761794A>G g.89218563A>G IVS3+2 T>C - RLBP1_000073 annotation obsolete, this change is probably c.141+2T>C, transcript used not indicated but was probably different without exon 1 that is present in NM_000326.4; heterozygous PubMed: Eichers 2002 - - Germline yes - - - - DNA STR, SEQ - - retinal disease - PubMed: Eichers 2002 Firth loop of NF-001, consanguinity (despite this, compound heterozygosity) - yes - - - - - - 1 LOVD
+?/. 4i c.141+2T>C r.spl p.(?) Paternal (inferred) - likely pathogenic g.89761794A>G g.89218563A>G IVS3+2 T>C - RLBP1_000073 annotation obsolete, this change is probably c.141+2T>C, transcript used not indicated but was probably different without exon 1 that is present in NM_000326.4; heterozygous PubMed: Eichers 2002 - - Germline yes - - - - DNA STR, SEQ - - retinal disease - PubMed: Eichers 2002 Family NF-005 - no - - - - - - 1 LOVD
+?/. 4i c.141+2T>C r.spl p.(?) Paternal (inferred) - likely pathogenic g.89761794A>G g.89218563A>G IVS3+2 T>C - RLBP1_000073 annotation obsolete, this change is probably c.141+2T>C, transcript used not indicated but was probably different without exon 1 that is present in NM_000326.4; heterozygous PubMed: Eichers 2002 - - Germline yes - - - - DNA STR, SEQ - - retinal disease - PubMed: Eichers 2002 Family NF-005 - no - - - - - - 1 LOVD
+?/. 4i c.141+2T>C r.spl p.(?) Parent #1 - likely pathogenic g.89761794A>G g.89218563A>G IVS3+2 T>C - RLBP1_000073 annotation obsolete, this change is probably c.141+2T>C, transcript used not indicated but was probably different without exon 1 that is present in NM_000326.4; heterozygous PubMed: Eichers 2002 - - Germline yes - - - - DNA STR, SEQ - - retinal disease - PubMed: Eichers 2002 Family NF-008 - yes - - - - - - 1 LOVD
+?/. 4i c.141+2T>C r.spl p.(?) Parent #1 - likely pathogenic g.89761794A>G g.89218563A>G IVS3+2 T>C - RLBP1_000073 annotation obsolete, this change is probably c.141+2T>C, transcript used not indicated but was probably different without exon 1 that is present in NM_000326.4; heterozygous PubMed: Eichers 2002 - - Germline yes - - - - DNA STR, SEQ - - retinal disease - PubMed: Eichers 2002 Family NF-008 - yes - - - - - - 1 LOVD
-/. - c.141+6G>A r.(=) p.(=) Unknown - benign g.89761790C>T g.89218559C>T RLBP1(NM_000326.4):c.141+6G>A, RLBP1(NM_000326.5):c.141+6G>A - RLBP1_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.141+6G>A r.(=) p.(=) Unknown - likely benign g.89761790C>T g.89218559C>T RLBP1(NM_000326.4):c.141+6G>A, RLBP1(NM_000326.5):c.141+6G>A - RLBP1_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 4i c.142-1G>A r.spl? p.? Both (homozygous) - likely pathogenic g.89760556C>T - c.142-1G>A, splice defect - RLBP1_000052 - PubMed: Littink-2012 - - Germline - - - - - DNA PCR blood - retinal disease - PubMed: Littink-2012 - M - Netherlands - - - - - 1 LOVD
+?/. 4i c.142-1G>A r.spl? p.? Both (homozygous) - likely pathogenic g.89760556C>T - c.142-1G>A, splice defect - RLBP1_000052 - PubMed: Littink-2012 - - Germline - - - - - DNA PCR blood - retinal disease - PubMed: Littink-2012 - F - Netherlands - - - - - 1 LOVD
-/. - c.191G>A r.(?) p.(Arg64Gln) Unknown - benign g.89760506C>T g.89217275C>T - - RLBP1_000019 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs201865787 Germline - 46/1204 cases with retinitis pigmentosa - - - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - 46 Yoshito Koyanagi
-/. - c.191G>A r.(?) p.(Arg64Gln) Unknown - benign g.89760506C>T g.89217275C>T RLBP1(NM_000326.4):c.191G>A (p.R64Q) - RLBP1_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.191G>A r.(?) p.(Arg64Gln) Unknown - VUS g.89760506C>T g.89217275C>T - - RLBP1_000019 - PubMed: Xu 2014 - rs201865787 Germline - 3/314 case chromosomes - - - DNA SEQ-NG - gene panel retinal disease RP237 PubMed: Xu 2014 - - - China - - - - - 1 LOVD
?/. - c.191G>A r.(?) p.(Arg64Gln) Unknown - VUS g.89760506C>T g.89217275C>T - - RLBP1_000019 - PubMed: Xu 2014 - - Germline - 3/314 case chromosomes - - - DNA SEQ-NG - gene panel retinal disease RP302 PubMed: Xu 2014 - - - China - - - - - 1 LOVD
?/. - c.191G>A r.(?) p.(Arg64Gln) Unknown - VUS g.89760506C>T g.89217275C>T - - RLBP1_000019 - PubMed: Xu 2014 - - Germline - 3/314 case chromosomes - - - DNA SEQ-NG - gene panel retinal disease RP401 PubMed: Xu 2014 - - - China - - - - - 1 LOVD
+?/. - c.203del r.(?) p.(Glu68Glyfs*51) Parent #1 - likely pathogenic g.89760494del g.89217263del RLBP1, variant 1: c.203del/p.E68Gfs*51, variant 2: c.203del/p.E68Gfs*51 - RLBP1_000065 solved, homozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ-NG blood RET2 targeted sequencing panel - see paper retinal disease 1101 PubMed: Weisschuh 2020 Filing key number: 740, sporadic retinitis pigmentosa, no patient Ids, consecutive numbers given M - Germany - - - - - 1 LOVD
+?/. - c.203del r.(?) p.(Glu68Glyfs*51) Both (homozygous) - likely pathogenic g.89760494del g.89217263del RLBP1 c.203del, p.(Glu68Glyfs*51) - RLBP1_000065 homozygous PubMed: Hipp 2015 - - Germline yes - - - - DNA SEQ-NG - panel-based next-generation sequencing (Glockle et al. 2014) retinal disease P6 PubMed: Hipp 2015 - M - - Germany - - - - 1 LOVD
+?/. 5 c.214G>C r.(?) p.(Ala72Pro) Both (homozygous) - likely pathogenic g.89760483C>G - c.214G>C - RLBP1_000051 - PubMed: Collin-2011 - - Germline - 0/360 controls - - - DNA PCR, SEQ, arraySNP blood - retinal disease - PubMed: Collin-2011 - M - Netherlands - - - - - 1 LOVD
?/. - c.221C>T r.(?) p.(Ala74Val) Unknown - VUS g.89760476G>A g.89217245G>A - - RLBP1_000018 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - - 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
?/. - c.229G>C r.(?) p.(Gly77Arg) Unknown - VUS g.89760468C>G g.89217237C>G - - RLBP1_000017 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs755885208 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
-?/. - c.231G>A r.(?) p.(Gly77=) Unknown - likely benign g.89760466C>T g.89217235C>T RLBP1(NM_000326.4):c.231G>A (p.G77=) - RLBP1_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.241G>A r.(?) p.(Ala81Thr) Unknown ACMG VUS g.89760456C>T g.89217225C>T - - RLBP1_000082 ACMG PM2 PubMed: Weisschuh 2024 - - Germline - - - - - DNA SEQ-NG - WGS ? SRP-371 PubMed: Weisschuh 2024 patient, no family history F - Germany - - - - - 1 Johan den Dunnen
+?/. 5 c.254C>T r.(?) p.(Ala85Val) Unknown - likely pathogenic g.89760443G>A - c.254C>T - RLBP1_000057 - PubMed: Eisenberger-2013 - - Germline - - - - - DNA SEQ-NG-I, SEQ-NG-R, SEQ blood - retinal disease - PubMed: Eisenberger-2013 - F ? Germany - - - - - 1 LOVD
+?/. - c.255_258dup r.(?) p.(Arg87Glyfs*27) Parent #1 - likely pathogenic g.89760439_89760442dup g.89217208_89217211dup RLBP1, variant 1: c.255_258dup/p.R87Gfs*27, variant 2: c.255_258dup/p.R87Gfs*27 - RLBP1_000064 solved, homozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ-NG blood RET5 targeted sequencing panel - see paper retinal disease 295 PubMed: Weisschuh 2020 Filing key number: 97, sporadic retinitis pigmentosa, no patient Ids, consecutive numbers given M - Germany - - - - - 1 LOVD
+/. - c.255_258dup r.(?) p.(Arg87GlyfsTer27) Both (homozygous) ACMG pathogenic (recessive) g.89760439_89760442dup g.89217208_89217211dup - - RLBP1_000064 ACMG PM2, PVS1, PP5 PubMed: Weisschuh 2024 - - Germline - - - - - DNA SEQ-NG - WGS ? ARRP-436 PubMed: Weisschuh 2024 patient, no family history M - Germany - - - - - 1 Johan den Dunnen
+?/. - c.282del r.(?) p.(Phe95SerfsTer24) Both (homozygous) - likely pathogenic g.89760415del g.89217184del 282delC - RLBP1_000012 - PubMed: Huang 2015 - - Germline yes - - - - DNA SEQ-NG - 284 gene panel retinal disease F10-1 PubMed: Huang 2015 - M - China - - - - - 1 LOVD
+?/. - c.282del r.(?) p.(Phe95SerfsTer24) Both (homozygous) - likely pathogenic g.89760415del g.89217184del 282delC - RLBP1_000012 - PubMed: Huang 2015 - - Germline yes - - - - DNA SEQ-NG - 284 gene panel retinal disease F31-1 PubMed: Huang 2015 - M - China - - - - - 1 LOVD
+?/. 5 c.282del r.(?) p.(Phe95Serfs*24) Parent #1 - likely pathogenic g.89760415del g.89217184del RLBP1:NM_000326:exon5:c.282delC:p.G94fs - RLBP1_000012 compound heterozygous PubMed: Chen 2020 - - Germline ? - - - - DNA SEQ-NG-I blood - retinal disease F15-I-1 PubMed: Chen 2020 - F - Taiwan - - - - - 1 LOVD
+/. - c.282del r.(?) p.(Phe95Serfs*24) Both (homozygous) ACMG pathogenic g.89760415del g.89217184del RLBP1 c.[282del];[282del], V1: c.282delC, (p.Phe95SerfsTer24) - RLBP1_000012 homozygous PubMed: Chen 2021 - - Unknown ? - - - - DNA SEQ-NG blood 212 inherited retinal disease-related genes retinal disease F276 PubMed: Chen 2021 - ? - Taiwan - - - - - 1 LOVD
+/. - c.282del r.(?) p.(Phe95Serfs*24) Unknown ACMG pathogenic g.89760415del g.89217184del RLBP1 c.[282del];[282del], V1: c.282delC, (p.Phe95SerfsTer24) - RLBP1_000012 alleles in trans; heterozygous PubMed: Chen 2021 - - Unknown ? - - - - DNA SEQ-NG blood 212 inherited retinal disease-related genes retinal disease F200 PubMed: Chen 2021 - ? - Taiwan - - - - - 1 LOVD
+/. - c.282del r.(?) p.(Phe95Serfs*24) Unknown ACMG pathogenic g.89760415del g.89217184del RLBP1 c.55C>T(;)282del, V2: c.282delC, (p.Phe95SerfsTer24) - RLBP1_000012 alleles in cis or trans; heterozygous PubMed: Chen 2021 - - Unknown ? - - - - DNA SEQ-NG blood 212 inherited retinal disease-related genes retinal disease F109 PubMed: Chen 2021 - ? - Taiwan - - - - - 1 LOVD
+/. - c.282delC r.(?) p.(Phe95SerfsTer24) Unknown - pathogenic g.89760415del g.89217184del RLBP1 c.55C>T(;)282del; p.(Phe95SerfsTer24) - RLBP1_000012 heterozygous PubMed: Chen 2021 - - Germline/De novo (untested) ? Taiwan Biobank: 0.000989; GnomAD_exome_East: 0.00125; GnomAD_All: 0.0000916 - - - DNA SEQ-NG - targeted 212 IRD-related genes retinal disease F109 PubMed: Chen 2021 - - - Taiwan - - - - - 1 LOVD
+/. - c.282delC r.(?) p.(Phe95SerfsTer24) Both (homozygous) - pathogenic g.89760415del g.89217184del RLBP1 c.[282del];[282del]; p.(Phe95SerfsTer24) - RLBP1_000012 homozygous PubMed: Chen 2021 - - Germline yes Taiwan Biobank: 0..000989; GnomAD_exome_East: 0.00125; GnomAD_All: 0.0000916 - - - DNA SEQ-NG - targeted 212 IRD-related genes retinal disease F200 PubMed: Chen 2021 - - - Taiwan - - - - - 1 LOVD
+/. - c.282delC r.(?) p.(Phe95SerfsTer24) Both (homozygous) - pathogenic g.89760415del g.89217184del RLBP1 c.[282del];[282del]; p.(Phe95SerfsTer24) - RLBP1_000012 homozygous PubMed: Chen 2021 - - Germline yes Taiwan Biobank: 0..000989; GnomAD_exome_East: 0.00125; GnomAD_All: 0.0000916 - - - DNA SEQ-NG - targeted 212 IRD-related genes retinal disease F276 PubMed: Chen 2021 - - - Taiwan - - - - - 1 LOVD
+?/. - c.286_297del r.(?) p.(Phe96_Phe99del) Unknown - likely pathogenic g.89760405_89760416del g.89217174_89217185del RLBP1(NM_000326.5):c.286_297delTTCCTGCGCTTC (p.F96_F99del) - RLBP1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 5 c.286_297del r.(?) p.(Phe96_Phe99del) Both (homozygous) - pathogenic g.89760388_89760399del - - - RLBP1_000009 Variant Error [EMISMATCH]: This variant seems to mismatch; the genomic and the transcript variant seems to not belong together. Please fix this entry and then remove this message. Sharon, submitted - - Germline - - - - - DNA SEQ - - fundus albipunctatus (retinitis punctata albescens (RPA)) - Sharon, submitted - F no Israel Arab-Muslim - - - - 1 Dror Sharon
+/. - c.286_297del r.(?) p.(Phe96_Phe99del) Unknown ACMG pathogenic g.89760400_89760411del - - - RLBP1_000009 - 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.286_297del r.(?) p.(Phe96_Phe99del) Unknown - likely pathogenic g.89760405_89760416del g.89217174_89217185del - - RLBP1_000009 - PubMed: Patel 2016 - - Germline - - - - - DNA SEQ-NG - gene panel retinal disease 10DG0529 PubMed: Patel 2016 - - - Saudi Arabia - - - - - 1 LOVD
+/. - c.286_297del r.(?) p.(Phe96_Phe99del) Maternal (confirmed) - pathogenic g.89760405_89760416del g.89217174_89217185del RLBP1 c.286_297:p.Phe96_99 deletion - RLBP1_000009 heterozygous PubMed: Lima-de-Carvalho 2020 - - Germline yes - - - - DNA SEQ blood - retinal disease II-1 PubMed: Lima-de-Carvalho 2020 - F - - - - - - - 1 LOVD
+/. - c.286_297del r.(?) p.(Phe96_Phe99del) Maternal (confirmed) - pathogenic g.89760405_89760416del g.89217174_89217185del RLBP1 c.286_297:p.Phe96_99 deletion - RLBP1_000009 heterozygous PubMed: Lima-de-Carvalho 2020 - - Germline yes - - - - DNA SEQ blood - retinal disease II-2 PubMed: Lima-de-Carvalho 2020 - F - - - - - - - 1 LOVD
-?/. - c.303C>T r.(?) p.(Arg101=) Unknown - likely benign g.89760394G>A - RLBP1(NM_000326.4):c.303C>T (p.R101=) - RLBP1_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.306A>C r.(?) p.(Ala102=) Unknown - likely benign g.89760391T>G g.89217160T>G RLBP1(NM_000326.4):c.306A>C (p.A102=), RLBP1(NM_000326.5):c.306A>C (p.A102=) - RLBP1_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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