Total 37 pathogenic variants reported for Osteoporosis with pseudoglioma 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_002335.4(LRP5):c.29G>A (p.Trp10Ter) SNV
Germline		 Chr11:68312743 Pathogenic Osteoporosis with pseudoglioma No Assertion Criteria Provided
 CA118082 rs_121908660

1 SubmittersRCV000006646
NM_002335.4(LRP5):c.1282C>T (p.Arg428Ter) SNV
Germline		 Chr11:68386582 Pathogenic Osteoporosis with pseudoglioma
Condition: not provided
8 conditions
LRP5-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA118084 rs_121908661

5 SubmittersRCV000006647RCV001781193RCV002496285RCV003904811
NM_002335.4(LRP5):c.2557C>T (p.Gln853Ter) SNV
Germline		 Chr11:68413742 Pathogenic Osteoporosis with pseudoglioma No Assertion Criteria Provided
 CA118087 rs_121908663

1 SubmittersRCV000006650
NM_002335.4(LRP5):c.1481G>A (p.Arg494Gln) SNV
Germline		 Chr11:68389949 Pathogenic/Likely pathogenic Osteoporosis with pseudoglioma
Condition: not provided
Exudative vitreoretinopathy 1
LRP5-related disorder
6 conditions		 Criteria Provided
Multiple Submitters
No Conflicts
 CA118089 rs_121908664

6 SubmittersRCV000006652RCV000414333RCV002247255RCV004742219RCV005003340
NM_002335.4(LRP5):c.1708C>T (p.Arg570Trp) SNV
Germline		 Chr11:68403606 Conflicting classifications of pathogenicity Osteoporosis with pseudoglioma
Condition: not provided
Osteogenesis imperfecta		 Criteria Provided
Conflicting Classifications
 CA118090 rs_121908665

3 SubmittersRCV000006653RCV001851703RCV002276534
NM_002335.4(LRP5):c.1999G>A (p.Val667Met) SNV
Germline		 Chr11:68406721 Conflicting classifications of pathogenicity Osteoporosis with pseudoglioma
Condition: not provided
not specified
Increased bone mineral density
Osteogenesis imperfecta
8 conditions
Retinal dystrophy
6 conditions		 Criteria Provided
Conflicting Classifications
 CA213422 rs_4988321

17 SubmittersRCV000006654RCV000086953RCV000250939RCV002276536RCV002276535RCV002496286RCV004814844RCV005394129
NM_002335.4(LRP5):c.1453G>T (p.Glu485Ter) SNV
Germline		 Chr11:68389921 Pathogenic Osteoporosis with pseudoglioma No Assertion Criteria Provided
 CA118091 rs_121908666

1 SubmittersRCV000006655
NM_002335.4(LRP5):c.2202G>A (p.Trp734Ter) SNV
Germline		 Chr11:68410024 Pathogenic Osteoporosis with pseudoglioma No Assertion Criteria Provided
 CA118093 rs_121908667

1 SubmittersRCV000006656
NM_002335.4(LRP5):c.4488+2T>G SNV
Germline		 Chr11:68439918 Pathogenic Exudative vitreoretinopathy 4, autosomal dominant
Condition: not provided
Familial exudative vitreoretinopathy
Inborn genetic diseases
Exudative vitreoretinopathy 4
Retinal dystrophy
Osteoporosis with pseudoglioma		 Criteria Provided
Multiple Submitters
No Conflicts
 CA118101 rs_80358322

8 SubmittersRCV000006667RCV000489366RCV000505032RCV001267021RCV004795379RCV004814845RCV004821259
NM_002335.4(LRP5):c.433C>T (p.Leu145Phe) SNV
Germline		 Chr11:68348188 Pathogenic Exudative vitreoretinopathy 4, autosomal dominant
Osteoporosis with pseudoglioma		 No Assertion Criteria Provided
 CA118107 rs_80358305

1 SubmittersRCV000006672RCV000033256
NM_002335.4(LRP5):c.1655C>T (p.Thr552Met) SNV
Germline		 Chr11:68403553 Pathogenic Osteoporosis with pseudoglioma
Condition: not provided		 Criteria Provided
Single Submitter
 CA130814 rs_397514663

2 SubmittersRCV000033257RCV003556102
NM_002335.4(LRP5):c.1145C>T (p.Pro382Leu) SNV
Germline		 Chr11:68386445 Pathogenic Osteoporosis with pseudoglioma
Condition: not provided		 Criteria Provided
Single Submitter
 CA130816 rs_397514664

2 SubmittersRCV000033258RCV001380061
NM_002335.4(LRP5):c.731C>T (p.Thr244Met) SNV
Germline		 Chr11:68363791 Pathogenic Osteoporosis with pseudoglioma No Assertion Criteria Provided
 CA130818 rs_397514665

1 SubmittersRCV000033259
NM_002335.4(LRP5):c.4600C>T (p.Arg1534Ter) SNV
Germline		 Chr11:68448822 Pathogenic Osteoporosis with pseudoglioma No Assertion Criteria Provided
 CA130819 rs_149645175

1 SubmittersRCV000033260
NM_002335.4(LRP5):c.1584+1G>A SNV
Germline		 Chr11:68390053 Pathogenic Osteoporosis with pseudoglioma No Assertion Criteria Provided
 CA381613557 rs_1554967176

1 SubmittersRCV000033261
NM_002335.4(LRP5):c.1142A>G (p.Asp381Gly) SNV
Germline		 Chr11:68386442 Likely pathogenic Osteoporosis with pseudoglioma Criteria Provided
Single Submitter
 CA10602481 rs_886040977

1 SubmittersRCV000258126
NM_002335.4(LRP5):c.205G>T (p.Asp69Tyr) SNV
Germline		 Chr11:68347960 Likely pathogenic Osteoporosis with pseudoglioma No Assertion Criteria Provided
 CA16044353 rs_1057519574

1 SubmittersRCV000417043
NM_002335.4(LRP5):c.4489-2A>G SNV
Germline		 Chr11:68446434 Likely pathogenic Osteoporosis with pseudoglioma
Condition: not provided		 Criteria Provided
Single Submitter
 CA16044354 rs_1057519575

2 SubmittersRCV000417056RCV003679002
NM_002335.4(LRP5):c.1413-7T>A SNV
Germline		 Chr11:68389874 Conflicting classifications of pathogenicity Condition: not provided
Osteoporosis with pseudoglioma
not specified
Retinal dystrophy
LRP5-related disorder		 Criteria Provided
Conflicting Classifications
 CA6149342 rs_141889567

13 SubmittersRCV000579350RCV001335928RCV001701094RCV004817778RCV003905501
NM_002335.4(LRP5):c.3857G>A (p.Cys1286Tyr) SNV
Germline		 Chr11:68433695 Conflicting classifications of pathogenicity Osteoporosis with pseudoglioma
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA381613765 rs_1326459816

2 SubmittersRCV000988588RCV002549716
NM_002335.4(LRP5):c.4619C>T (p.Thr1540Met) SNV
Germline		 Chr11:68448841 Conflicting classifications of pathogenicity Microcephaly
Condition: not provided
not specified
Osteoporosis with pseudoglioma		 Criteria Provided
Conflicting Classifications
 CA6150467 rs_141407040

4 SubmittersRCV001252809RCV001413075RCV005056745RCV001335931
NM_002335.4(LRP5):c.1348C>T (p.Arg450Cys) SNV
Germline		 Chr11:68386648 Likely pathogenic Osteoporosis with pseudoglioma
LRP5-related disorder
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA6149309 rs_765695793

3 SubmittersRCV001260286RCV003906177RCV001202577
NM_002335.4(LRP5):c.3005G>A (p.Arg1002Gln) SNV
Germline		 Chr11:68416505 Conflicting classifications of pathogenicity Condition: not provided
Osteoporosis with pseudoglioma
Inborn genetic diseases
6 conditions		 Criteria Provided
Conflicting Classifications
 CA6149805 rs_779935967

4 SubmittersRCV001243546RCV001260287RCV004031216RCV005049764
NM_002335.4(LRP5):c.442C>T (p.Gln148Ter) SNV
Germline		 Chr11:68348197 Pathogenic Condition: not provided
Osteoporosis with pseudoglioma		 Criteria Provided
Multiple Submitters
No Conflicts
 CA381610787 rs_1396340484

3 SubmittersRCV001208694RCV003313991
NM_002335.4(LRP5):c.1058G>A (p.Arg353Gln) SNV
Germline		 Chr11:68386358 Pathogenic/Likely pathogenic Osteoporosis with pseudoglioma
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA381612147 rs_2153153067

2 SubmittersRCV001728176RCV003558852
NM_002335.4(LRP5):c.1067C>T (p.Ser356Leu) SNV
Germline		 Chr11:68386367 Conflicting classifications of pathogenicity Condition: not provided
Osteoporosis with pseudoglioma		 Criteria Provided
Conflicting Classifications
 CA381612167 rs_1158745675

2 SubmittersRCV001907002RCV003331229
NM_002335.4(LRP5):c.1512G>A (p.Trp504Ter) SNV
Germline		 Chr11:68389980 Pathogenic Osteoporosis with pseudoglioma Criteria Provided
Single Submitter
 CA6149352 rs_545508982

1 SubmittersRCV002052059
NM_002335.4(LRP5):c.1480C>T (p.Arg494Trp) SNV
Germline		 Chr11:68389948 Likely pathogenic Osteoporosis with pseudoglioma
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA381613062 rs_1270099780

3 SubmittersRCV002244111RCV003093935
NM_002335.4(LRP5):c.2371A>G (p.Met791Val) SNV
Germline		 Chr11:68411488 Likely pathogenic Osteoporosis with pseudoglioma Criteria Provided
Single Submitter
 CA381616982 rs_1229615060

1 SubmittersRCV003328514
NM_002335.4(LRP5):c.3028-1G>A SNV
Germline		 Chr11:68423488 Likely pathogenic Osteoporosis with pseudoglioma Criteria Provided
Single Submitter
 CA381620553 rs_2496814765

1 SubmittersRCV003337841
NM_002335.4(LRP5):c.1102C>T (p.Gln368Ter) SNV
Germline		 Chr11:68386402 Likely pathogenic Osteoporosis with pseudoglioma Criteria Provided
Single Submitter

1 SubmittersRCV005252378