GET-Evidence: Search

VariantImpactInheritance patternSummaryGenomes
LRP5 W10Xinsufficiently evaluated pathogenicunknown

(9 web hits)

LRP5 K88Rinsufficiently evaluated none, f=0.001unknown var-GS18517-1100-36-ASM
LRP5 Q89Rinsufficiently evaluated not reviewed, f=0.004unknown CGI sample GS01669-DNA_C07 from PGP sample 74521372
CGI sample GS01173-DNA_H06 from PGP sample 91708424
LRP5 L145Finsufficiently evaluated pathogenicunknown

(9 web hits)

LRP5 G171Rinsufficiently evaluated pathogenicunknown

(43 web hits)

LRP5 G171Vinsufficiently evaluated protectivedominant

Mutation in gene commonly known for osteoporosis actually protects against osteoporosis.

(334 web hits)

LRP5 W211Xinsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_A07 from PGP sample 96240009
LRP5 A214Tinsufficiently evaluated pathogenicunknown

(46 web hits)

LRP5 A214Vinsufficiently evaluated pathogenicunknown

(57 web hits)

LRP5 A242Tinsufficiently evaluated pathogenicunknown

(47 web hits)

LRP5 T253Iinsufficiently evaluated pathogenicunknown

(83 web hits)

LRP5 A400Vinsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_C05 from PGP sample 42408046
LRP5 R428Xinsufficiently evaluated pathogenicunknown

(10 web hits)

LRP5 R444Cinsufficiently evaluated pathogenicunknown

(13 web hits)

LRP5 E485Xinsufficiently evaluated pathogenicunknown

(8 web hits)

LRP5 R494Qinsufficiently evaluated pathogenicunknown

(17 web hits)

LRP5 N499Sinsufficiently evaluated not reviewed, f=0.000unknown var-GS19834-1100-36-ASM
LRP5 I548Vinsufficiently evaluated not reviewed, f=0.000unknown var-GS19703-1100-36-ASM
LRP5 R570Qinsufficiently evaluated pathogenicunknown

(28 web hits)

LRP5 R570Winsufficiently evaluated pathogenicunknown

(25 web hits)

LRP5 G610Rinsufficiently evaluated pathogenicunknown

(9 web hits)

LRP5 V667Mpathogenic, f=0.041recessive

This variant has been implicated in causing osteoporosis-pseudoglioma syndrome in a recessive manner. The gene is strongly implicated in causing the disease, but an insufficient number of controls means this variant’s observation lacks statistical significance. The condition manifests in childhood with early onset osteoporosis and eye problems.

(54 web hits)

CGI sample GS01669-DNA_C05 from PGP sample 42408046
CGI sample GS01175-DNA_D05 from PGP sample 1205491
CGI sample GS00253-DNA_C01_200_37
LRP5 D718Xinsufficiently evaluated pathogenicunknown

(6 web hits)

LRP5 W734Xinsufficiently evaluated pathogenicunknown

(8 web hits)

LRP5 R752Ginsufficiently evaluated pathogenicunknown

(23 web hits)

LRP5 I786Minsufficiently evaluated not reviewed, f=0.008unknown var-GS19649-1100-36-ASM
LRP5 Q853Xinsufficiently evaluated pathogenicunknown

(11 web hits)

LRP5 R925Cinsufficiently evaluated not reviewed, f=0.000unknown var-GS18537-1100-36-ASM
LRP5 L987Minsufficiently evaluated none, f=0.008unknown var-GS18555-1100-36-ASM
LRP5 R1036Qinsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_C07 from PGP sample 74521372
LRP5 A1267Vinsufficiently evaluated noneunknown
LRP5 A1330Vuncertain pathogenic, f=0.110other

In a study of a UK population this variant was associated with a small increased risk of osteoporosis and osteoporotic bone fractures, with each copy of the variant presumed to have an additive effect. A study in Chinese young men failed to find an association with peak bone density.

(199 web hits)

CGI sample GS01175-DNA_G03 from PGP sample 92527586
hu3215A7 build 36 substitution variants
CGI sample GS01669-DNA_C05 from PGP sample 42408046
CGI sample GS01173-DNA_H06 from PGP sample 91708424 (hom)
CGI sample GS01173-DNA_D06 from PGP sample 69488604
CGI sample GS01175-DNA_D05 from PGP sample 1205491
CGI sample GS00253-DNA_C01_200_37
hu728FFF build 36 substitution variants
CGI sample GS01173-DNA_B02 from PGP sample 94378523
CGI sample GS01173-DNA_A07 from PGP sample 96240009
LRP5 E1367Kinsufficiently evaluated pathogenicunknown

(25 web hits)

LRP5 V1399Iinsufficiently evaluated not reviewed, f=0.001unknown
LRP5 A1525Vinsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_B05 from PGP sample 83494370
CGI sample GS01175-DNA_A04 from PGP sample 13272228
LRP5 R1534Xpathogenicrecessive

Reported to cause osteoporosis pseudoglioma syndrome in a recessive manner. This effect is recorded in ClinVar by OMIM, ( This comes from Narumi et al 2010 (PMID: 20034086), who found this variant compound heterozygous in a Japanese patient. Although the report didin’t establish statistical significance, the variant may be very rare. ExAC has no allele frequency for the variant. This rarity would be consistent with the proposed effect, as is the the highly disruptive nature of the variant (nonsense mutation).

LRP5 S1553Rinsufficiently evaluated not reviewedunknown
LRP5L R16Hinsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_B01 from PGP sample 86206034
LRP5L Q26Xinsufficiently evaluated not reviewed, f=0.001unknown var-GS19700-1100-36-ASM
LRP5L E59Kinsufficiently evaluated none, f=0.051unknown var-GS19020-1100-36-ASM
LRP5L G242Sinsufficiently evaluated not reviewed, f=0.008unknown var-GS19703-1100-36-ASM
LRP5L W250Xinsufficiently evaluated not reviewed, f=0.008unknown var-GS19238-1100-36-ASM
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Total results: 42

Gene search

"GENE" or "GENE A123C":

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