MFRP Chromosome 11

Membrane frizzled-related protein
55 variants 55 Health Risk

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What This Gene Does
This gene encodes a member of the frizzled-related protein family. The encoded protein plays an important role in eye development and mutations in this gene have been associated with nanophthalmos, posterior microphthalmia, retinitis pigmentosa, foveoschisis, and optic disc drusen. The protein is encoded by a bicistronic transcript which also encodes C1q and tumor necrosis factor related protein 5 (C1QTNF5). [provided by RefSeq, Jun 2013]
Associated Conditions (6)
Isolated microphthalmia 5
Inborn genetic diseases
MFRP-related disorder
Nanophthalmos 2
Retinal dystrophy
Nanophthalmia
Key Variants
RS141109062
Conflicting classifications of pathogenicity
Isolated microphthalmia 5, Isolated microphthalmia 5
Health Risk
RS1950565228
Conflicting classifications of pathogenicity
Isolated microphthalmia 5, Inborn genetic diseases, Isolated microphthalmia 5
Health Risk
RS201021366
Conflicting classifications of pathogenicity
Isolated microphthalmia 5, Inborn genetic diseases, Isolated microphthalmia 5
Health Risk
RS372897338
Conflicting classifications of pathogenicity
Isolated microphthalmia 5, MFRP-related disorder, Isolated microphthalmia 5
Health Risk
RS730882142
Conflicting classifications of pathogenicity
Isolated microphthalmia 5, Isolated microphthalmia 5
Health Risk
RS1245503127
Likely pathogenic
Isolated microphthalmia 5, Isolated microphthalmia 5
Health Risk
RS1357854800
Likely pathogenic
Isolated microphthalmia 5, Isolated microphthalmia 5
Health Risk
RS200251814
Likely pathogenic
Isolated microphthalmia 5, Nanophthalmos 2, Isolated microphthalmia 5
Health Risk
RS2135374862
Likely pathogenic
Isolated microphthalmia 5, Isolated microphthalmia 5
Health Risk
RS749156010
Likely pathogenic
Isolated microphthalmia 5, Isolated microphthalmia 5
Health Risk
RS755272017
Likely pathogenic
Isolated microphthalmia 5, Isolated microphthalmia 5
Health Risk
RS786205472
Likely pathogenic
Isolated microphthalmia 5, Isolated microphthalmia 5
Health Risk
All Variants (55)
RSID Category Clinical Significance Conditions
RS141109062 Health Risk Conflicting classifications of pathogenicity Isolated microphthalmia 5, Isolated microphthalmia 5
RS1950565228 Health Risk Conflicting classifications of pathogenicity Isolated microphthalmia 5, Inborn genetic diseases, Isolated microphthalmia 5
RS201021366 Health Risk Conflicting classifications of pathogenicity Isolated microphthalmia 5, Inborn genetic diseases, Isolated microphthalmia 5
RS372897338 Health Risk Conflicting classifications of pathogenicity Isolated microphthalmia 5, MFRP-related disorder, Isolated microphthalmia 5
RS730882142 Health Risk Conflicting classifications of pathogenicity Isolated microphthalmia 5, Isolated microphthalmia 5
RS1245503127 Health Risk Likely pathogenic Isolated microphthalmia 5, Isolated microphthalmia 5
RS1357854800 Health Risk Likely pathogenic Isolated microphthalmia 5, Isolated microphthalmia 5
RS200251814 Health Risk Likely pathogenic Isolated microphthalmia 5, Nanophthalmos 2, Isolated microphthalmia 5
RS2135374862 Health Risk Likely pathogenic Isolated microphthalmia 5, Isolated microphthalmia 5
RS749156010 Health Risk Likely pathogenic Isolated microphthalmia 5, Isolated microphthalmia 5
RS755272017 Health Risk Likely pathogenic Isolated microphthalmia 5, Isolated microphthalmia 5
RS786205472 Health Risk Likely pathogenic Isolated microphthalmia 5, Isolated microphthalmia 5
RS901701142 Health Risk Likely pathogenic Isolated microphthalmia 5, Isolated microphthalmia 5
RS1033747538 Health Risk Pathogenic Isolated microphthalmia 5, Isolated microphthalmia 5
RS1166512859 Health Risk Pathogenic Isolated microphthalmia 5, Isolated microphthalmia 5
RS121908189 Health Risk Pathogenic Nanophthalmos 2, Isolated microphthalmia 5, Nanophthalmos 2
RS121908190 Health Risk Pathogenic Nanophthalmos 2, Nanophthalmos 2
RS1226217440 Health Risk Pathogenic Isolated microphthalmia 5, Isolated microphthalmia 5
RS1342453275 Health Risk Pathogenic Isolated microphthalmia 5, Isolated microphthalmia 5
RS1353587068 Health Risk Pathogenic Isolated microphthalmia 5, Isolated microphthalmia 5, Isolated microphthalmia 5
RS1359404443 Health Risk Pathogenic Isolated microphthalmia 5, Isolated microphthalmia 5
RS1435204327 Health Risk Pathogenic Isolated microphthalmia 5, Nanophthalmos 2, Isolated microphthalmia 5
RS145719998 Health Risk Pathogenic Isolated microphthalmia 5, Retinal dystrophy, Nanophthalmos 2
RS150232843 Health Risk Pathogenic Isolated microphthalmia 5, Retinal dystrophy, Isolated microphthalmia 5
RS1555037395 Health Risk Pathogenic Retinal dystrophy, Isolated microphthalmia 5, Retinal dystrophy
RS1565294012 Health Risk Pathogenic Isolated microphthalmia 5, Isolated microphthalmia 5
RS1565295426 Health Risk Pathogenic Isolated microphthalmia 5, Isolated microphthalmia 5
RS1591302809 Health Risk Pathogenic —
RS1950517316 Health Risk Pathogenic Isolated microphthalmia 5, Isolated microphthalmia 5
RS1950537117 Health Risk Pathogenic Nanophthalmos 2, Nanophthalmos 2
RS1950553695 Health Risk Pathogenic Isolated microphthalmia 5, Isolated microphthalmia 5
RS2135373641 Health Risk Pathogenic Isolated microphthalmia 5, Isolated microphthalmia 5
RS2135374023 Health Risk Pathogenic Isolated microphthalmia 5, Isolated microphthalmia 5
RS2135374097 Health Risk Pathogenic Isolated microphthalmia 5, Isolated microphthalmia 5
RS2497080009 Health Risk Pathogenic Isolated microphthalmia 5, Isolated microphthalmia 5
RS2497083257 Health Risk Pathogenic Isolated microphthalmia 5, Isolated microphthalmia 5
RS376898612 Health Risk Pathogenic Isolated microphthalmia 5, Isolated microphthalmia 5
RS587776595 Health Risk Pathogenic Nanophthalmos 2, Isolated microphthalmia 5, Retinal dystrophy
RS587776596 Health Risk Pathogenic Nanophthalmos 2, Isolated microphthalmia 5, MFRP-related disorder
RS730882141 Health Risk Pathogenic Isolated microphthalmia 5, Isolated microphthalmia 5
RS750894392 Health Risk Pathogenic Isolated microphthalmia 5, Isolated microphthalmia 5
RS763385432 Health Risk Pathogenic Isolated microphthalmia 5, Nanophthalmos 2, Isolated microphthalmia 5
RS767900062 Health Risk Pathogenic Isolated microphthalmia 5, Isolated microphthalmia 5
RS769294778 Health Risk Pathogenic Nanophthalmos 2, Nanophthalmos 2
RS769491427 Health Risk Pathogenic Isolated microphthalmia 5, Isolated microphthalmia 5
RS770341402 Health Risk Pathogenic Isolated microphthalmia 5, Isolated microphthalmia 5
RS786205471 Health Risk Pathogenic Isolated microphthalmia 5, Isolated microphthalmia 5
RS797045054 Health Risk Pathogenic Isolated microphthalmia 5, Isolated microphthalmia 5
RS930359553 Health Risk Pathogenic Isolated microphthalmia 5, Isolated microphthalmia 5
RS985358609 Health Risk Pathogenic Isolated microphthalmia 5, Isolated microphthalmia 5
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