NM_002335.4(LRP5):c.2717_2718del (p.Cys906fs)Pathogenic
not provided|Autosomal dominant osteopetrosis 1
β
β
ββ2026β Residue 906
NM_002335.4(LRP5):c.4488+2T>GPathogenic
Exudative vitreoretinopathy 4, autosomal dominant|not provided|Familial exudative vitreoretinopathy|Inborn genetic diseases|Exudative vitreoretinopathy 4|Retinal dystrophy|Osteoporosis with pseudoglioma|Ovarian serous cystadenocarcinoma
β
β
ββ2026
NM_002335.4(LRP5):c.1480C>T (p.Arg494Trp)Likely pathogenic
Osteoporosis with pseudoglioma|not provided
β
β
ββ2026β Residue 494
NM_002335.4(LRP5):c.1709G>A (p.Arg570Gln)Pathogenic
Exudative vitreoretinopathy 4, autosomal recessive|Inborn genetic diseases|not provided|Retinal dystrophy
β
β
ββ2025β Residue 570
NM_002335.4(LRP5):c.685C>T (p.Arg229Trp)Pathogenic
not provided|6 conditions
β
β
ββ2025β Residue 229
NM_002335.4(LRP5):c.724G>A (p.Ala242Thr)Pathogenic
Autosomal dominant osteopetrosis 1|Worth disease|not provided|LRP5-related disorder|Skeletal dysplasia
β
β
ββ2025β Residue 242
NM_002335.4(LRP5):c.1270G>A (p.Asp424Asn)Pathogenic
not provided|Exudative vitreoretinopathy 4|Retinal dystrophy
β
β
ββ2025β Residue 424
NM_002335.4(LRP5):c.4189_4192del (p.Leu1397fs)Pathogenic
Retinal dystrophy|not provided
β
β
ββ2025β Residue 1397
NM_002335.4(LRP5):c.442C>T (p.Gln148Ter)Pathogenic
not provided|Osteoporosis with pseudoglioma
β
β
ββ2025β Residue 148
NM_002335.4(LRP5):c.1210G>A (p.Gly404Arg)Likely pathogenic
not provided|6 conditions
β
β
ββ2025β Residue 404
NM_002335.4(LRP5):c.1042C>T (p.Arg348Trp)Likely pathogenic
not provided|Familial exudative vitreoretinopathy
β
β
ββ2025β Residue 348
NM_002335.4(LRP5):c.1481G>A (p.Arg494Gln)Pathogenic
Osteoporosis with pseudoglioma|not provided|Exudative vitreoretinopathy 1|LRP5-related disorder|6 conditions
β
β
ββ2025β Residue 494
NM_002335.4(LRP5):c.209_210delinsAA (p.Phe70Ter)Pathogenic
Retinal dystrophy|not provided|6 conditions
β
β
ββ2025β Residue 70
NM_002335.4(LRP5):c.2737dup (p.Cys913fs)Pathogenic
not provided|Exudative vitreoretinopathy 4|Osteoporosis with pseudoglioma|6 conditions
β
β
ββ2025β Residue 913
NM_002335.4(LRP5):c.1058G>A (p.Arg353Gln)Pathogenic
Osteoporosis with pseudoglioma|not provided
β
β
ββ2025β Residue 353
NM_002335.4(LRP5):c.2718_2721del (p.Met907fs)Pathogenic
Inborn genetic diseases|not provided|Retinal dystrophy|Exudative vitreoretinopathy 4
β
β
ββ2025β Residue 907
NM_002335.4(LRP5):c.640G>A (p.Ala214Thr)Pathogenic
Worth disease|Autosomal dominant osteopetrosis 1|not provided
β
β
ββ2025β Residue 214
NM_002335.4(LRP5):c.512G>T (p.Gly171Val)Pathogenic
High bone mass|not provided|Disorder of bone
β
β
ββ2025β Residue 171
NM_002335.4(LRP5):c.935del (p.Leu312fs)Pathogenic
not provided|Inborn genetic diseases
β
β
ββ2025β Residue 312
NM_002335.4(LRP5):c.1378G>A (p.Glu460Lys)Likely pathogenic
not provided|6 conditions
β
β
ββ2025β Residue 460