FREM2 Chromosome 13

FRAS1 related extracellular matrix 2
206 variants 206 Health Risk

Upload your DNA to see your personal genotypes for variants in FREM2.

What This Gene Does
This gene encodes an integral membrane protein containing numerous CSPG (chondroitin sulfate proteoglycan element) repeats and Calx-beta domains. The encoded protein localizes to the basement membrane, forming a ternary complex that plays a role in epidermal-dermal interactions. This protein is important for the integrity of skin and renal epithelia. Mutations in this gene are associated with Fraser syndrome. [provided by RefSeq, Apr 2014]
Associated Conditions (10)
Isolated cryptophthalmia
Fraser syndrome 2
Inborn genetic diseases
FREM2-related disorder
Microcephaly
Epidermolysis bullosa simplex with nail dystrophy
Fraser syndrome 1
Congenital diaphragmatic hernia
Childhood-onset schizophrenia
8 conditions
Key Variants
RS114229197
Conflicting classifications of pathogenicity
Isolated cryptophthalmia, Fraser syndrome 2, Inborn genetic diseases
Health Risk
RS114333791
Conflicting classifications of pathogenicity
Fraser syndrome 2, FREM2-related disorder, Fraser syndrome 2
Health Risk
RS114341997
Conflicting classifications of pathogenicity
Fraser syndrome 2, Fraser syndrome 2
Health Risk
RS114346379
Conflicting classifications of pathogenicity
Fraser syndrome 2, FREM2-related disorder, Fraser syndrome 2
Health Risk
RS114400765
Conflicting classifications of pathogenicity
Fraser syndrome 2, FREM2-related disorder, Isolated cryptophthalmia
Health Risk
RS114595447
Conflicting classifications of pathogenicity
Fraser syndrome 2, Inborn genetic diseases, Isolated cryptophthalmia
Health Risk
RS114688149
Conflicting classifications of pathogenicity
FREM2-related disorder, FREM2-related disorder
Health Risk
RS114837786
Conflicting classifications of pathogenicity
Isolated cryptophthalmia, Fraser syndrome 2, Isolated cryptophthalmia
Health Risk
RS115149211
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS115446826
Conflicting classifications of pathogenicity
Fraser syndrome 2, FREM2-related disorder, Fraser syndrome 2
Health Risk
RS115830086
Conflicting classifications of pathogenicity
Fraser syndrome 2, Fraser syndrome 2
Health Risk
RS116030904
Conflicting classifications of pathogenicity
Fraser syndrome 2, Fraser syndrome 2
Health Risk
All Variants (206)
RSID Category Clinical Significance Conditions
RS182974545 Health Risk Conflicting classifications of pathogenicity Fraser syndrome 2, FREM2-related disorder, Fraser syndrome 2
RS183560588 Health Risk Conflicting classifications of pathogenicity Fraser syndrome 2, FREM2-related disorder, Isolated cryptophthalmia
RS184635412 Health Risk Conflicting classifications of pathogenicity Fraser syndrome 2, Microcephaly, Isolated cryptophthalmia
RS185608262 Health Risk Conflicting classifications of pathogenicity Fraser syndrome 2, Fraser syndrome 2
RS199831729 Health Risk Conflicting classifications of pathogenicity Fraser syndrome 2, FREM2-related disorder, Fraser syndrome 2
RS200338297 Health Risk Conflicting classifications of pathogenicity Fraser syndrome 2, Fraser syndrome 2
RS200528879 Health Risk Conflicting classifications of pathogenicity Fraser syndrome 2, FREM2-related disorder, Fraser syndrome 2
RS200860319 Health Risk Conflicting classifications of pathogenicity Fraser syndrome 2, Fraser syndrome 2
RS200997496 Health Risk Conflicting classifications of pathogenicity Fraser syndrome 2, Epidermolysis bullosa simplex with nail dystrophy, FREM2-related disorder
RS201065518 Health Risk Conflicting classifications of pathogenicity Fraser syndrome 2, Fraser syndrome 2
RS201457616 Health Risk Conflicting classifications of pathogenicity Fraser syndrome 2, Microcephaly, Isolated cryptophthalmia
RS201533042 Health Risk Conflicting classifications of pathogenicity Fraser syndrome 2, Fraser syndrome 2
RS2137911376 Health Risk Conflicting classifications of pathogenicity Isolated cryptophthalmia, Fraser syndrome 2, Isolated cryptophthalmia
RS369765588 Health Risk Conflicting classifications of pathogenicity Fraser syndrome 2, Isolated cryptophthalmia, Fraser syndrome 2
RS370018440 Health Risk Conflicting classifications of pathogenicity Fraser syndrome 2, FREM2-related disorder, Fraser syndrome 2
RS372166899 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Fraser syndrome 2, Isolated cryptophthalmia
RS373638476 Health Risk Conflicting classifications of pathogenicity Fraser syndrome 2, Fraser syndrome 2
RS374178459 Health Risk Conflicting classifications of pathogenicity Isolated cryptophthalmia, Fraser syndrome 2, Inborn genetic diseases
RS374250366 Health Risk Conflicting classifications of pathogenicity Fraser syndrome 2, Fraser syndrome 2
RS374360439 Health Risk Conflicting classifications of pathogenicity Fraser syndrome 2, Isolated cryptophthalmia, Inborn genetic diseases
RS374734549 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS375059201 Health Risk Conflicting classifications of pathogenicity Fraser syndrome 2, Fraser syndrome 2
RS41286130 Health Risk Conflicting classifications of pathogenicity Fraser syndrome 2, Fraser syndrome 2
RS530142447 Health Risk Conflicting classifications of pathogenicity Fraser syndrome 2, Fraser syndrome 2
RS531905447 Health Risk Conflicting classifications of pathogenicity Fraser syndrome 2, Inborn genetic diseases, Fraser syndrome 2
RS533231784 Health Risk Conflicting classifications of pathogenicity Fraser syndrome 2, Fraser syndrome 2
RS534318261 Health Risk Conflicting classifications of pathogenicity Fraser syndrome 2, Fraser syndrome 2
RS542257246 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Fraser syndrome 2, Isolated cryptophthalmia
RS546732114 Health Risk Conflicting classifications of pathogenicity Fraser syndrome 2, Inborn genetic diseases, Fraser syndrome 2
RS548177107 Health Risk Conflicting classifications of pathogenicity Fraser syndrome 2, Isolated cryptophthalmia, Fraser syndrome 2
RS550787922 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS555093522 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS564740435 Health Risk Conflicting classifications of pathogenicity Isolated cryptophthalmia, Fraser syndrome 2, Inborn genetic diseases
RS568736669 Health Risk Conflicting classifications of pathogenicity FREM2-related disorder, FREM2-related disorder
RS570476408 Health Risk Conflicting classifications of pathogenicity FREM2-related disorder, Fraser syndrome 1, FREM2-related disorder
RS571694324 Health Risk Conflicting classifications of pathogenicity Fraser syndrome 2, Fraser syndrome 2
RS746196338 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS747849923 Health Risk Conflicting classifications of pathogenicity Fraser syndrome 2, Fraser syndrome 2
RS749834830 Health Risk Conflicting classifications of pathogenicity Fraser syndrome 2, FREM2-related disorder, Fraser syndrome 2
RS752080876 Health Risk Conflicting classifications of pathogenicity FREM2-related disorder, FREM2-related disorder
RS759789024 Health Risk Conflicting classifications of pathogenicity Fraser syndrome 2, Fraser syndrome 2
RS766715445 Health Risk Conflicting classifications of pathogenicity Fraser syndrome 2, Isolated cryptophthalmia, FREM2-related disorder
RS767098305 Health Risk Conflicting classifications of pathogenicity Fraser syndrome 2, Inborn genetic diseases, FREM2-related disorder
RS769142295 Health Risk Conflicting classifications of pathogenicity Fraser syndrome 2, Fraser syndrome 2
RS769687764 Health Risk Conflicting classifications of pathogenicity Fraser syndrome 2, FREM2-related disorder, Fraser syndrome 2
RS769767420 Health Risk Conflicting classifications of pathogenicity Fraser syndrome 2, Isolated cryptophthalmia, Fraser syndrome 2
RS770004356 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS770972612 Health Risk Conflicting classifications of pathogenicity Fraser syndrome 2, Fraser syndrome 2
RS771744013 Health Risk Conflicting classifications of pathogenicity Fraser syndrome 2, Isolated cryptophthalmia, Inborn genetic diseases
RS772742256 Health Risk Conflicting classifications of pathogenicity Fraser syndrome 2, Fraser syndrome 2
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