Full data view for gene LRP5


Osteogenesis Imperfecta Variant Database
Information The variants shown are described using the NM_002335.4 transcript reference sequence.

626 entries on 7 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
-?/. - c.16C>A r.(?) p.(Pro6Thr) Unknown - likely benign g.68080198C>A - LRP5(NM_002335.4):c.16C>A (p.P6T) - LRP5_000455 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 1 c.29G>A r.(?) p.(Trp10*) Parent #1 - pathogenic g.68080211G>A g.68312743G>A - - LRP5_000001 0/50 controls PubMed: Gong 2001, OMIM:var0001, PubMed: Ai 2005 - - Germline - 1/37 - - - DNA SEQ - - OPPG - - - - yes - - - - - - 2 Johan den Dunnen
+/. 1 c.29G>A r.(?) p.(Trp10*) Parent #2 - pathogenic g.68080211G>A g.68312743G>A - - LRP5_000001 0/50 controls PubMed: Gong 2001, OMIM:var0001, PubMed: Ai 2005 - - Germline - 1/37 - - - DNA SEQ - - OPPG - - - - yes - - - - - - 2 Johan den Dunnen
+?/. 1 c.32_33insCTG r.(?) p.(Leu12delinsProVal) Unknown - likely pathogenic g.68080216_68080217insCTG g.68312748_68312749insCTG LRP5 c.34_36insCTG, Leu20_Ala21ins Leu - LRP5_000379 error in annotation PubMed: Wang 2019 - - Germline ? - - - - DNA SEQ-NG blood - retinal disease ? PubMed: Wang 2019 - - - China - - - - - 1 LOVD
+?/. 1 c.32_33insCTG r.(?) p.(Leu12delinsProVal) Unknown - likely pathogenic g.68080216_68080217insCTG g.68312748_68312749insCTG LRP5 c.34_36insCTG, Leu20_Ala21ins Leu - LRP5_000379 - PubMed: Wang 2019 - - Germline ? - - - - DNA SEQ-NG blood - retinal disease ? PubMed: Wang 2019 - - - China - - - - - 1 LOVD
?/. - c.43_44insCGC r.(?) p.(Leu14_Leu15insPro) Unknown - VUS g.68080225_68080226insCGC - LRP5(NM_002335.4):c.43_44insCGC (p.(Leu14_Leu15insPro)) - LRP5_000515 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 1 c.52_60del r.(?) p.(Leu18_Leu20del) Unknown - benign g.68080234_68080242del g.68312766_68312774del - - LRP5_000059 control chromosomes PubMed: Van Wesenbeeck 2003 - - Germline - 0.01 - - - DNA SEQ - - Healthy/Control - - - - - - - - - - - 1 Johan den Dunnen
?/. - c.52_60dup r.(?) p.(Leu18_Leu20dup) Unknown - VUS g.68080234_68080242dup - LRP5(NM_002335.4):c.52_60dup (p.(Leu18_Leu20dup)) - LRP5_000482 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.55_60del r.(?) p.(Leu19_Leu20del) Parent #1 - likely benign g.68080237_68080242del g.68312769_68312774del 55_60delCTGCTG - LRP5_000311 not in 346 control alleles PubMed: Seo 2015 - - Germline - 1/51 patients - - - DNA SEQ - - retinal disease patient PubMed: Seo 2015 FEVR patients - - Korea - - - - - 1 LOVD
-/. - c.58_60dup r.(?) p.(Leu20dup) Parent #1 - benign g.68080240_68080242dup g.68312772_68312774dup 58_60dupCTG - LRP5_000133 - PubMed: Seo 2015 - - Germline - 3/340 control alleles - - - DNA SEQ - - Healthy/Control controls PubMed: Seo 2015 controls - - Korea - - - - - 3 LOVD
-/. 1 c.60_61dup r.(?) p.(Ala21Glyfs*63) Unknown - benign g.68080242_68080243dup g.68312774_68312775dup - - LRP5_000060 control chromosomes PubMed: Van Wesenbeeck 2003 - - Germline - 0.05 - - - DNA SEQ - - Healthy/Control - - - - - - - - - - - 1 Johan den Dunnen
+/. 1 c.85G>A r.(?) p.(Ala29Thr) Unknown - pathogenic g.68080267G>A g.68312799G>A - - LRP5_000118 0/246 controls Hartikka 2005 - - Germline - 1/20 - - - DNA SEQ - - osteoporosis - - - - - - - - - - - 1 Frans Cremers
+?/. - c.91+1G>T r.spl p.(?) Unknown - likely pathogenic g.68080274G>T g.68312806G>T 91+1G>T, - - LRP5_000404 - PubMed: Chen 2020 - - Germline yes - - - - DNA SEQ-NG blood custom genetic pediatric retinal disease panel (Tang et al., 2017) retinal disease 445 PubMed: Chen 2020 - ? - China - - - - - 1 LOVD
-?/. - c.91+4G>A r.spl? p.? Unknown - likely benign g.68080277G>A - LRP5(NM_002335.4):c.91+4G>A - LRP5_000449 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.91+158G>A r.(=) p.(=) Unknown - likely benign g.68080431G>A - LRP5(NM_002335.4):c.91+158G>A - LRP5_000516 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 1i c.91+10563A>T r.(=) p.(=) Parent #1 - likely pathogenic g.68090836A>T g.68323368A>T IVS1a>g - LRP5_000068 association with BMD hip/spine (F) PubMed: Koller 2005 - rs514529 Germline - - - - - DNA SEQ - - BMND - - - F - - - - - - - 1 Johan den Dunnen
+/. - c.92-2A>C r.spl p.? Parent #1 - pathogenic g.68115313A>C g.68347845A>C - - LRP5_000292 - PubMed: Tang 2017 - - Germline - - - - - DNA SEQ - - retinal disease Fam61 PubMed: Tang 2017 - - - China - - - - - 1 LOVD
-/. - c.96G>A r.(?) p.(Ser32=) Unknown - benign g.68115319G>A - LRP5(NM_002335.4):c.96G>A (p.S32=) - LRP5_000438 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.119G>A r.(?) p.(Arg40His) Unknown - pathogenic g.68115342G>A g.68347874G>A - - LRP5_000318 - PubMed: Salvo 2015 - - Germline - - - - - DNA SEQ-NG - 163-gene panel retinal disease 1402003 PubMed: Salvo 2015 family - - United States - - - - - 1 LOVD
?/. - c.121C>T r.(?) p.(Arg41Trp) Unknown - VUS g.68115344C>T g.68347876C>T - - LRP5_000308 - PubMed: Ellingford 2016 - - Germline - - - - - DNA SEQ - 105-gene panel retinal disease 13010229 PubMed: Ellingford 2016 familial segregation analysis requested - - - - - - - - 1 LOVD
+/. - c.121C>T r.(?) p.(Arg41Trp) Maternal (confirmed) - pathogenic g.68115344C>T g.68347876C>T - - LRP5_000308 - PubMed: Li 2018 - - Germline yes - - - - DNA SEQ-NG blood - retinal disease C150713C00801a1 PubMed: Li 2018 - ? - China - - - - - 1 LOVD
-?/. - c.129A>T r.(?) p.(Val43=) Unknown - likely benign g.68115352A>T - LRP5(NM_002335.4):c.129A>T (p.V43=) - LRP5_000509 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.189G>A r.(?) p.(Glu63=) Unknown - likely benign g.68115412G>A - LRP5(NM_002335.4):c.189G>A (p.E63=) - LRP5_000496 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2 c.209_210delinsAA r.(?) p.(Phe70*) Parent #2 - pathogenic g.68115432_68115433delinsAA g.68347964_68347965delinsAA 209_210TC>AA - LRP5_000085 - PubMed: Ai 2005 - - Germline - 1/37 - - - DNA SEQ - - OPPG - - - - - - - - - - - 1 Frans Cremers
+?/. - c.235T>C r.(?) p.(Trp79Arg) Both (homozygous) - likely pathogenic g.68115458T>C g.68347990T>C T235C - LRP5_000302 - PubMed: Keser 2017 - - Germline yes - - - - DNA arraySNP, SEQ-NG - gene panel retinal disease NCRNA7 PubMed: Keser 2017 - - - Pakistan - - - - - 1 LOVD
?/. - c.244G>A r.(?) p.(Val82Met) Unknown - VUS g.68115467G>A - LRP5(NM_002335.2):c.244G>A (p.(Val82Met)) - LRP5_000497 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.260T>G r.(?) p.(Ile87Ser) Paternal (confirmed) - likely pathogenic (dominant) g.68115483T>G g.68348015T>G - - LRP5_000291 - PubMed: Lin 2018 - - Germline yes - - - - DNA SEQ-NG - - retinal disease FamPatI1?II2/II3 PubMed: Lin 2018 2-generation family, 3 affected (3M) M no China - - - - - 3 Johan den Dunnen
-/. 2 c.266A>G r.(?) p.(Gln89Arg) Parent #1 - benign g.68115489A>G g.68348021A>G 314A>G - LRP5_000031 - PubMed: Okubo 2002 - - Germline - - - - - DNA SEQ, PCRdig - - Healthy/Control - - - - - Japan - - - - - 2 Johan den Dunnen
-/. 2 c.266A>G r.(?) p.(Gln89Arg) Parent #2 - benign g.68115489A>G g.68348021A>G 314A>G - LRP5_000031 - PubMed: Okubo 2002 - - Germline - - - - - DNA SEQ, PCRdig - - Healthy/Control - - - - - Japan - - - - - 2 Johan den Dunnen
-/. 2 c.266A>G r.(?) p.(Gln89Arg) Unknown - benign g.68115489A>G g.68348021A>G 314A>G - LRP5_000031 - PubMed: Okubo 2002 - - Germline - 28/344 control chromosomes - - - DNA SEQ, PCRdig - - Healthy/Control - - - - - Japan - - - - - 1 Johan den Dunnen
-/. 2 c.266A>G r.(?) p.(Gln89Arg) Unknown - benign g.68115489A>G g.68348021A>G - - LRP5_000031 not found in control chromosomes PubMed: Van Wesenbeeck 2003 - - Germline - - - - - DNA SEQ - - Healthy/Control - - - - - - - - - - - 1 Johan den Dunnen
-?/. 2 c.266A>G r.(?) p.(Gln89Arg) Unknown - VUS g.68115489A>G g.68348021A>G - - LRP5_000031 - PubMed: Zhang 2019 - - Germline/De novo (untested) - 7/29 - - - DNA PCR - gene panel ROP Patient 9 PubMed: Zhang 2019 - F ? China - - - - - 1 Jasmine Chen
-/. - c.266A>G r.(?) p.(Gln89Arg) Maternal (confirmed) - benign g.68348021A>G g.68115489A>G - - LRP5_000031 - PubMed: Lin 2018 - rs41494349 Germline no - - - - DNA SEQ-NG - - retinal disease FamPatI1?II2/II3 PubMed: Lin 2018 2-generation family, 3 affected (3M) M no China - - - - - 3 Johan den Dunnen
+?/. - c.266A>G r.(?) p.(Gln89Arg) Unknown - likely pathogenic g.68115489A>G g.68348021A>G c.266A>G;p.Q89R - LRP5_000031 - PubMed: Tian 2019 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG, SEQ blood - retinal disease 4 PubMed: Tian 2019 - ? - China - - - - - 1 LOVD
-/. - c.290C>T r.(?) p.(Ala97Val) Unknown - likely benign g.68115513C>T g.68348045C>T - - LRP5_000018 - PubMed: Qin-2005 - - Unknown - 1/56 patients; 2/183 controls - - - DNA PCR, SEQ blood - retinal disease - PubMed: Qin-2005 - - no Japan Japanese - - - - 1 LOVD
+?/. - c.290C>T r.(?) p.(Ala97Val) Unknown - likely pathogenic g.68115513C>T g.68348045C>T c.290C>T;p.A97Va - LRP5_000018 - PubMed: Tian 2019 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG, SEQ blood - retinal disease 9 PubMed: Tian 2019 - ? - China - - - - - 1 LOVD
+?/. - c.290C>T r.(?) p.(Ala97Val) Unknown - likely pathogenic g.68115513C>T g.68348045C>T c.C290T;p.A97Va - LRP5_000018 - PubMed: Tian 2019 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG, SEQ blood - retinal disease 11 PubMed: Tian 2019 - ? - China - - - - - 1 LOVD
-?/. - c.303C>T r.(?) p.(Asn101=) Unknown - likely benign g.68115526C>T - LRP5(NM_002335.4):c.303C>T (p.N101=) - LRP5_000439 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.304G>A r.(?) p.(Val102Met) Paternal (confirmed) - likely pathogenic g.68115527G>A g.68348059G>A 1942G>A, Val648Ile - LRP5_000380 - PubMed: Chen 2019 - - Germline yes - - - - DNA SEQ-NG, SEQ blood paediatric disease gene panel retinal disease 93_II:1 PubMed: Chen 2019 proband, family 93, individual II:1 F no China - - - - - 2 LOVD
+?/. - c.304G>A r.(?) p.(Val102Met) Unknown - likely pathogenic g.68115527G>A g.68348059G>A 1942G>A, Val648Ile - LRP5_000380 - PubMed: Chen 2019 - - Germline yes - - - - DNA SEQ blood paediatric disease gene panel retinal disease 93_I:1 PubMed: Chen 2019 father, family 93, individual I:1 M no China - - - - - 1 LOVD
+?/. - c.304G>A r.(?) p.(Val102Met) Unknown - likely pathogenic g.68115527G>A g.68348059G>A c.304G>A, p.(Val102Met) - LRP5_000380 heterozygous PubMed: Wang 2019 - - Germline yes - - - - DNA SEQ-NG blood panel of 126 genes retinal disease 14038 PubMed: Wang 2019 - M - China - - - - - 1 LOVD
-/. 2 c.324C>G r.(?) p.(=) Unknown - benign g.68115547C>G g.68348079C>G V108V - LRP5_000032 - PubMed: Toomes 2004 - - Germline - 0.02 - - - DNA SSCA, SEQ - - Healthy/Control - - - - - - - - - - - 1 Johan den Dunnen
+/. 2 c.331G>T r.(?) p.(Asp111Tyr) Parent #1 - pathogenic g.68115554G>T g.68348086G>T - - LRP5_000034 0/100 control chromosomes PubMed: Van Wesenbeeck 2003 - - Germline - 1/10 - - - DNA SEQ - - BMND - - - - - Argentina - - - - - 1 Johan den Dunnen
-/. 2 c.333C>T r.(?) p.(=) Unknown - benign g.68115556C>T g.68348088C>T D111D - LRP5_000035 not found in control chromosomes PubMed: Van Wesenbeeck 2003 - - Germline - - - - - DNA SEQ - - Healthy/Control - - - - - - - - - - - 1 Johan den Dunnen
-?/. - c.375G>T r.(?) p.(Thr125=) Unknown - likely benign g.68115598G>T - LRP5(NM_002335.4):c.375G>T (p.T125=) - LRP5_000440 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.384G>A r.(?) p.(Glu128=) Unknown - likely benign g.68115607G>A - LRP5(NM_002335.4):c.384G>A (p.E128=) - LRP5_000465 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.394A>G r.(?) p.(Iso132Val) Unknown - VUS g.68115617A>G g.68348149A>G - - LRP5_000258 - PubMed: Liu 2017 - - Germline ? - - - - DNA SEQ peripheral venous blood gene panel EVR4, EVR;FEVR 3095 II:1 PubMed: Liu 2017 2 generation, 1 affected M no China - - - - - 1 Jasmine Chen
?/. - c.424C>T r.(?) p.(Arg142Trp) Unknown - VUS g.68115647C>T - LRP5(NM_002335.4):c.424C>T (p.(Arg142Trp)) - LRP5_000517 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.425G>A r.(?) p.(Arg142Gln) Parent #1 - pathogenic g.68115648G>A g.68348180G>A G425A - LRP5_000303 - PubMed: Keser 2017 - - Germline - - - - - DNA arraySNP, SEQ-NG - gene panel retinal disease NCRNA16 PubMed: Keser 2017 - - - Pakistan - - - - - 1 LOVD
+/. - c.433C>T r.(?) p.(Leu145Phe) Paternal (confirmed) - pathogenic g.68115656C>T g.68348188C>T - - LRP5_000045 - PubMed: Li 2018 - - Germline no - - - - DNA SEQ-NG blood - retinal disease C160809C05801 PubMed: Li 2018 - ? - China - - - - - 1 LOVD
+/. - c.433C>T r.(?) p.(Leu145Phe) Unknown - pathogenic g.68115656C>T g.68348188C>T - - LRP5_000045 - PubMed: Qin-2005 - - Unknown - 1/56 patients; 0/183 controls - - - DNA PCR, SEQ blood - retinal disease Fam1 PubMed: Qin-2005 2-generation family, 4 affected, patient/brother/sister, mother, who carried the mutation, exhibited mild retinal avascularization. M no Japan Japan - - - - 4 LOVD
+/. 2 c.461G>T r.(?) p.(Arg154Met) Unknown - pathogenic g.68115684G>T g.68348216G>T - - LRP5_000124 1/544 controls Rickels 2005 - - Germline - 1/1 - - - DNA SEQ - - BMND - - - - - - - - - - - 1 Frans Cremers
+/. - c.485A>C r.(?) p.(His162Pro) Paternal (confirmed) - pathogenic g.68115708A>C g.68348240A>C - - LRP5_000346 - PubMed: Li 2018 - - Germline yes - - - - DNA SEQ-NG blood - retinal disease C160613C02101 PubMed: Li 2018 - ? - China - - - - - 1 LOVD
?/. - c.488G>C r.(?) p.(Gly163Ala) Unknown - VUS g.68115711G>C - LRP5(NM_002335.2):c.488G>C (p.(Gly163Ala)) - LRP5_000441 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 2i c.488+53C>T r.(?) p.(=) Unknown - benign g.68115764C>T g.68348296C>T - - LRP5_000056 - PubMed: Toomes 2004 - - Germline - 0.52 - - - DNA SSCA, SEQ - - Healthy/Control - - - - - - - - - - - 1 Johan den Dunnen
+/. - c.503C>G r.(?) p.(Thr168Arg) Paternal (confirmed) - pathogenic g.68125132C>G g.68357664C>G - - LRP5_000347 - PubMed: Li 2018 - - Germline yes - - - - DNA SEQ-NG blood - retinal disease C160602C03801 PubMed: Li 2018 - ? - China - - - - - 1 LOVD
+/. 3 c.511G>C r.(?) p.(Gly171Arg) Parent #1 - pathogenic g.68125140G>C g.68357672G>C - - LRP5_000057 0/100 controls PubMed: Van Wesenbeeck 2003, OMIM:var0014 - - Germline - 1/10 - - - DNA SEQ - - BMND - - - - - Belgium - - - - - 1 Johan den Dunnen
+/. 3 c.511G>T r.(?) p.(Gly171Cys) Parent #1 - pathogenic g.68125140G>T g.68357672G>T - - LRP5_000013 not in 2000 control chromosomes PubMed: Little 2002, OMIM:var0013 - - Germline - - - - - DNA SEQ - - BMND - - - - - - - - - - - 1 Johan den Dunnen
+/. 3 c.511G>T r.(?) p.(Gly171Cys) Parent #1 - pathogenic g.68125140G>T g.68357672G>T - - LRP5_000013 0/420 controls PubMed: Boyden 2002, OMIM:var0013 - - Germline - - - - - DNA SEQ - - ? - - - - - - - - - - - 1 Johan den Dunnen
+/. 3 c.518C>T r.(?) p.(Thr173Met) Parent #1 - pathogenic g.68125147C>T g.68357679C>T - - LRP5_000058 0/400 controls PubMed: Toomes 2004 - - Germline - 1/32 - - - DNA SSCA, SEQ - - EVR;FEVR - - - - - - - - - - - 1 Johan den Dunnen
+?/. 3 c.518C>T r.(?) p.(Thr173Met) Unknown - likely pathogenic g.68125147C>T g.68357679C>T - - LRP5_000058 not well conserved evolutionarily PubMed: Toomes 2004 - - Germline/De novo (untested) ? 0/400 control chromosomes - - - DNA SSCA - direct sequencing EVR4, EVR;FEVR Individual 2 PubMed: Toomes 2004 elderly British woman F ? United Kingdom (Great Britain) - - - - - 1 Jasmine Chen
?/. - c.518C>T r.(?) p.(Thr173Met) Paternal (confirmed) - VUS g.68125147C>T g.68357679C>T - - LRP5_000058 - PubMed: Li 2018 - - Germline no - - - - DNA SEQ-NG blood - retinal disease C160520C0080181 PubMed: Li 2018 - ? - China - - - - - 1 LOVD
?/. - c.575C>G r.(?) p.(Ser192Trp) Unknown - VUS g.68125204C>G - LRP5(NM_002335.4):c.575C>G (p.(Ser192Trp)) - LRP5_000483 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.590C>G r.(?) p.(Pro197Arg) Unknown - VUS g.68125219C>G - - - LRP5_000456 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 3 c.607G>A r.(?) p.(Asp203Asn) Parent #2 - pathogenic g.68125236G>A g.68357768G>A - - LRP5_000092 - PubMed: Ai 2005 - - Germline - 1/32 - - - DNA SEQ - - OPPG - - - - - - - - - - - 1 Frans Cremers
?/. - c.607G>A r.(?) p.(Asp203Asn) Unknown - VUS g.68125236G>A - - - LRP5_000092 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.607G>A r.(?) p.(Asp203Asn) Paternal (confirmed) - pathogenic g.68125236G>A g.68357768G>A - - LRP5_000092 - PubMed: Moon 2021 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel retinal disease Pat54 PubMed: Moon 2021 - - - Korea - - - - - 1 Johan den Dunnen
+/. - c.608A>C r.(?) p.(Asp203Ala) Paternal (confirmed) - pathogenic g.68125237A>C g.68357769A>C LRP5 c.608A>C, p.(Asp203Ala) - LRP5_000273 heterozygous PubMed: Maltese 2017 - - Germline yes - - - - DNA SEQ blood anna_tracewska EVR;FEVR, OPPG AB685 (Family 1) PubMed: Maltese 2017 family 1, individual A8685 (proband), 2 generation family, 2 affected M - Italy Italian - - - pars plana vitrectomy, laser photocoagulation 1 LOVD
+/. - c.608A>C r.(?) p.(Asp203Ala) Unknown - pathogenic g.68125237A>C g.68357769A>C LRP5 c.608A>C, p.(Asp203Ala) - LRP5_000273 heterozygous PubMed: Maltese 2017 - - Unknown yes - - - - DNA SEQ, STR blood - OPPG AB996 (Family 1) PubMed: Maltese 2017 family 1, individual A8996 (proband's father), 2 generation family, 2 affected M - Italy Italian - - - - 1 LOVD
-/. 3 c.639C>T r.(?) p.(=) Unknown - benign g.68125268C>T g.68357800C>T D213D - LRP5_000061 - PubMed: Toomes 2004 - - Germline - 0.02 - - - DNA SSCA, SEQ - - Healthy/Control - - - - - - - - - - - 1 Johan den Dunnen
+/. 3 c.640G>A r.(?) p.(Ala214Thr) Parent #1 - pathogenic g.68125269G>A g.68357801G>A - - LRP5_000062 0/100 controls PubMed: Van Wesenbeeck 2003, OMIM:var0016 - - Germline - 1/10 - - - DNA SEQ - - BMND - - - - - United States - - - - - 1 Johan den Dunnen
+/. 3 c.641C>T r.(?) p.(Ala214Val) Parent #1 - pathogenic g.68125270C>T g.68357802C>T - - LRP5_000063 0/100 controls PubMed: Van Wesenbeeck 2003, OMIM:var0017 - - Germline - 1/10 - - - DNA SEQ - - BMND - - - - - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+?/. - c.685C>T r.(?) p.(Arg229Trp) Unknown - likely pathogenic g.68125314C>T g.68357846C>T - - LRP5_000312 - PubMed: Patel 2016 - - Germline - - - - - DNA SEQ-NG - gene panel retinal disease 11DG0198 PubMed: Patel 2016 - - - Saudi Arabia - - - - - 1 LOVD
-/. - c.686+13G>A r.(=) p.(=) Unknown - benign g.68125328G>A - LRP5(NM_001291902.2):c.-1080+13G>A, LRP5(NM_002335.4):c.686+13G>A - LRP5_000466 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.686+13G>A r.(=) p.(=) Unknown - likely benign g.68125328G>A - LRP5(NM_001291902.2):c.-1080+13G>A, LRP5(NM_002335.4):c.686+13G>A - LRP5_000466 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 3i c.686+61C>T r.(?) p.(=) Unknown - benign g.68125376C>T g.68357908C>T - - LRP5_000064 - PubMed: Toomes 2004 - - Germline - 0.01 - - - DNA SSCA, SEQ - - Healthy/Control - - - - - - - - - - - 1 Johan den Dunnen
-/. - c.687-17C>T r.(=) p.(=) Unknown - benign g.68131198C>T - LRP5(NM_002335.4):c.687-17C>T - LRP5_000418 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.687-3C>A r.spl? p.(?) Paternal (confirmed) - pathogenic g.68131212C>A g.68363744C>A - - LRP5_000348 - PubMed: Li 2018 - - Germline yes - - - - DNA SEQ-NG blood - retinal disease C160819C01301 PubMed: Li 2018 - ? - China - - - - - 1 LOVD
?/. - c.713C>T r.(?) p.(Thr238Met) Maternal (confirmed) - VUS g.68131241C>T - c.713C>T:Thr238Met - LRP5_000280 - PubMed: Chan 2016 - - Germline - - - - - DNA SEQ-NG - - retinal disease Case 2 PubMed: Chan 2016 - M - - - - - - - 1 LOVD
+/. 4 c.724G>A r.(?) p.(Ala242Thr) Parent #1 - pathogenic g.68131252G>A g.68363784G>A - - LRP5_000065 0/100 controls PubMed: Van Wesenbeeck 2003, OMIM:var0015 - - Germline - 4/10 - - - DNA SEQ - - hyperostosis, endosteal (Worth disease) - - - - - United States - - - - - 1 Johan den Dunnen
+/. 4 c.724G>A r.(?) p.(Ala242Thr) Parent #1 - pathogenic g.68131252G>A g.68363784G>A - - LRP5_000065 0/100 controls PubMed: Van Wesenbeeck 2003, OMIM:var0015 - - Germline - 4/10 - - - DNA SEQ - - hyperostosis, endosteal (Worth disease) - - - - - United States - - - - - 1 Johan den Dunnen
+/. 4 c.724G>A r.(?) p.(Ala242Thr) Parent #1 - pathogenic g.68131252G>A g.68363784G>A - - LRP5_000065 0/100 controls PubMed: Van Wesenbeeck 2003, OMIM:var0015 - - Germline - 4/10 - - - DNA SEQ - - VBCH2 - - - - - Italy Sardinia - - - - 5 Johan den Dunnen
+/. 4 c.724G>A r.(?) p.(Ala242Thr) Parent #1 - pathogenic (dominant) g.68131252G>A g.68363784G>A - - LRP5_000065 0/100 controls PubMed: Van Wesenbeeck 2003, OMIM:var0015 - - Germline - 4/10 - - - DNA SEQ - - OPTA1 FamG PubMed: Van Wesenbeeck 2003 - - - France - - - - - 2 Johan den Dunnen
+/. - c.724G>A r.(?) p.(Ala242Thr) Unknown - pathogenic g.68131252G>A - - - LRP5_000065 - - - rs121908670 Unknown - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.731C>G r.(?) p.(Thr244Arg) Parent #1 - likely pathogenic (dominant) g.68131259C>G g.68363791C>G - - LRP5_000313 not in 348 control alleles PubMed: Seo 2015 - - Germline - - - - - DNA SEQ - - retinal disease Pat14 PubMed: Seo 2015 - M - Korea - - - - - 1 LOVD
+/. 4 c.731C>T r.spl p.(Thr244Met) Parent #2 - pathogenic g.68131259C>T g.68363791C>T - - LRP5_000101 - PubMed: Ai 2005 - - Germline - 1/37 - - - DNA SEQ - - OPPG - - - - - - - - - - - 1 Frans Cremers
+/. 4 c.731C>T r.(?) p.(Thr244Met) Unknown - pathogenic g.68131259C>T g.68363791C>T - - LRP5_000101 - PubMed: Ai 2005 - - Germline - 1/37 - - - DNA SEQ - - OPPG - - - - - - - - - - - 1 Frans Cremers
?/. - c.746C>T r.(?) p.(Thr249Ile) Unknown - VUS g.68131274C>T - LRP5(NM_002335.2):c.746C>T (p.(Thr249Ile)) - LRP5_000498 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.748_749del r.(?) p.(Leu250Valfs*50) Parent #1 - pathogenic g.68131276_68131277del g.68363808_68363809del 746_747delCT - LRP5_000300 - PubMed: Huang 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - 790-gene panel retinal disease Pat3 PubMed: Huang 2017 - F - China - - - - - 1 LOVD
+/. 4 c.758C>T r.(?) p.(Thr253Ile) Parent #1 - pathogenic (dominant) g.68131286C>T g.68363818C>T - - LRP5_000066 0/100 controls PubMed: Van Wesenbeeck 2003, OMIM:var0018 - - Germline - 2/10 - - - DNA SEQ - - OPTA1 FamI PubMed: Van Wesenbeeck 2003 - - - Denmark - - - - - 1 Johan den Dunnen
+/. 4 c.758C>T r.(?) p.(Thr253Ile) Parent #1 - pathogenic (dominant) g.68131286C>T g.68363818C>T - - LRP5_000066 0/100 controls PubMed: Van Wesenbeeck 2003, OMIM:var0018 - - Germline - 2/10 - - - DNA SEQ - - OPTA1 FamJ PubMed: Van Wesenbeeck 2003 - - - Denmark - - - - - 1 Johan den Dunnen
+/. 4 c.765G>A r.(?) p.(Trp255*) Parent #2 - pathogenic g.68131293G>A g.68363825G>A - - LRP5_000105 - PubMed: Ai 2005 - - Germline - 1/37 - - - DNA SEQ - - OPPG - - - - - - - - - - - 1 Frans Cremers
+/. 4 c.765G>A r.(?) p.(Trp255*) Unknown - pathogenic g.68131293G>A g.68363825G>A - - LRP5_000105 - PubMed: Ai 2005 - - Germline - 1/37 - - - DNA SEQ - - OPPG - - - - - - - - - - - 1 Frans Cremers
+/. 4 c.789C>A r.(?) p.(Cys263*) Parent #1 - pathogenic g.68131317C>A g.68363849C>A - - LRP5_000106 - PubMed: Ai 2005 - - Germline - 1/37 - - - DNA SEQ - - OPPG - - - - - - - - - - - 1 Frans Cremers
?/. - c.796C>T r.(?) p.(Arg266Cys) Unknown - VUS g.68131324C>T - LRP5(NM_002335.2):c.796C>T (p.(Arg266Cys)) - LRP5_000499 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.803G>A r.(?) p.(Gly268Glu) Unknown - pathogenic g.68131331G>A g.68363863G>A - - LRP5_000319 - PubMed: Salvo 2015 - - Germline - - - - - DNA SEQ-NG - 163-gene panel retinal disease 7963001 PubMed: Salvo 2015 family - - United States - - - - - 1 LOVD
+/. 4 c.804_813del r.(?) p.(Gly269Argfs*4) Parent #2 - pathogenic g.68131332_68131341del g.68363864_68363873del 803_812del - LRP5_000067 0/362 controls PubMed: Qin 2005, OMIM:var0028 - - Germline - 1/56 - - - DNA SEQ - - EVR;FEVR - - heterozygous parent - - Japan - - - - - 1 Johan den Dunnen
?/. - c.805G>T r.(?) p.(Gly269Trp) Unknown - VUS g.68131333G>T g.68363865G>T - - LRP5_000317 - PubMed: Xu 2015 - - Germline - 1/314 cases - - - DNA SEQ-NG - - retinal disease RP240 PubMed: Xu 2015 2-generation family, 1 affected, unaffected carrier parents M - China - - - - - 1 Johan den Dunnen
+/. - c.821T>G r.(?) p.(Ile274Ser) Paternal (confirmed) - pathogenic g.68131349T>G g.68363881T>G - - LRP5_000349 - PubMed: Li 2018 - - Germline yes - - - - DNA SEQ-NG blood - retinal disease C160122C00701b1 PubMed: Li 2018 - ? - China - - - - - 1 LOVD
-?/. - c.828T>C r.(?) p.(Ser276=) Unknown - likely benign g.68131356T>C - - - LRP5_000510 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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