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
RS114229197 Health Risk Conflicting classifications of pathogenicity Isolated cryptophthalmia, Fraser syndrome 2, Inborn genetic diseases
RS114333791 Health Risk Conflicting classifications of pathogenicity Fraser syndrome 2, FREM2-related disorder, Fraser syndrome 2
RS114341997 Health Risk Conflicting classifications of pathogenicity Fraser syndrome 2, Fraser syndrome 2
RS114346379 Health Risk Conflicting classifications of pathogenicity Fraser syndrome 2, FREM2-related disorder, Fraser syndrome 2
RS114400765 Health Risk Conflicting classifications of pathogenicity Fraser syndrome 2, FREM2-related disorder, Isolated cryptophthalmia
RS114595447 Health Risk Conflicting classifications of pathogenicity Fraser syndrome 2, Inborn genetic diseases, Isolated cryptophthalmia
RS114688149 Health Risk Conflicting classifications of pathogenicity FREM2-related disorder, FREM2-related disorder
RS114837786 Health Risk Conflicting classifications of pathogenicity Isolated cryptophthalmia, Fraser syndrome 2, Isolated cryptophthalmia
RS115149211 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS115446826 Health Risk Conflicting classifications of pathogenicity Fraser syndrome 2, FREM2-related disorder, Fraser syndrome 2
RS115830086 Health Risk Conflicting classifications of pathogenicity Fraser syndrome 2, Fraser syndrome 2
RS116030904 Health Risk Conflicting classifications of pathogenicity Fraser syndrome 2, Fraser syndrome 2
RS116763572 Health Risk Conflicting classifications of pathogenicity Fraser syndrome 2, FREM2-related disorder, Isolated cryptophthalmia
RS117758105 Health Risk Conflicting classifications of pathogenicity Fraser syndrome 2, Isolated cryptophthalmia, Fraser syndrome 2
RS121434356 Health Risk Conflicting classifications of pathogenicity Fraser syndrome 2, Isolated cryptophthalmia, Fraser syndrome 2
RS1242415839 Health Risk Conflicting classifications of pathogenicity Isolated cryptophthalmia, Fraser syndrome 2, Isolated cryptophthalmia
RS1303270704 Health Risk Conflicting classifications of pathogenicity —
RS1376730588 Health Risk Conflicting classifications of pathogenicity Fraser syndrome 2, Fraser syndrome 2
RS137891381 Health Risk Conflicting classifications of pathogenicity Isolated cryptophthalmia, Fraser syndrome 2, Isolated cryptophthalmia
RS138154238 Health Risk Conflicting classifications of pathogenicity Fraser syndrome 2, Fraser syndrome 2
RS138477887 Health Risk Conflicting classifications of pathogenicity Fraser syndrome 2, Fraser syndrome 2
RS138539682 Health Risk Conflicting classifications of pathogenicity Isolated cryptophthalmia, Fraser syndrome 2, Isolated cryptophthalmia
RS139044304 Health Risk Conflicting classifications of pathogenicity Fraser syndrome 2, FREM2-related disorder, Fraser syndrome 2
RS139236965 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS139804851 Health Risk Conflicting classifications of pathogenicity Fraser syndrome 2, FREM2-related disorder, Inborn genetic diseases
RS1399473815 Health Risk Conflicting classifications of pathogenicity —
RS140101984 Health Risk Conflicting classifications of pathogenicity Fraser syndrome 2, FREM2-related disorder, Fraser syndrome 2
RS140353326 Health Risk Conflicting classifications of pathogenicity FREM2-related disorder, FREM2-related disorder
RS142012270 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Isolated cryptophthalmia, Fraser syndrome 2
RS143571375 Health Risk Conflicting classifications of pathogenicity Fraser syndrome 2, FREM2-related disorder, Fraser syndrome 2
RS143576067 Health Risk Conflicting classifications of pathogenicity Fraser syndrome 2, Fraser syndrome 2
RS143791655 Health Risk Conflicting classifications of pathogenicity Fraser syndrome 2, Isolated cryptophthalmia, Fraser syndrome 2
RS144702001 Health Risk Conflicting classifications of pathogenicity Fraser syndrome 2, Fraser syndrome 2
RS144811771 Health Risk Conflicting classifications of pathogenicity Fraser syndrome 2, Fraser syndrome 2
RS145208009 Health Risk Conflicting classifications of pathogenicity Fraser syndrome 2, FREM2-related disorder, Fraser syndrome 2
RS145657148 Health Risk Conflicting classifications of pathogenicity FREM2-related disorder, FREM2-related disorder
RS146195006 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Isolated cryptophthalmia, Fraser syndrome 2
RS146685625 Health Risk Conflicting classifications of pathogenicity Fraser syndrome 2, FREM2-related disorder, Fraser syndrome 2
RS147563277 Health Risk Conflicting classifications of pathogenicity Fraser syndrome 2, Fraser syndrome 2
RS147947821 Health Risk Conflicting classifications of pathogenicity Fraser syndrome 2, Fraser syndrome 2
RS148774506 Health Risk Conflicting classifications of pathogenicity Fraser syndrome 2, Isolated cryptophthalmia, FREM2-related disorder
RS148794835 Health Risk Conflicting classifications of pathogenicity Fraser syndrome 2, Fraser syndrome 2
RS148965852 Health Risk Conflicting classifications of pathogenicity Isolated cryptophthalmia, Fraser syndrome 2, Isolated cryptophthalmia
RS150154438 Health Risk Conflicting classifications of pathogenicity Fraser syndrome 2, FREM2-related disorder, Fraser syndrome 2
RS150328266 Health Risk Conflicting classifications of pathogenicity Fraser syndrome 2, Fraser syndrome 2
RS150928081 Health Risk Conflicting classifications of pathogenicity Fraser syndrome 2, Fraser syndrome 2
RS151062281 Health Risk Conflicting classifications of pathogenicity Fraser syndrome 2, FREM2-related disorder, Fraser syndrome 2
RS151296346 Health Risk Conflicting classifications of pathogenicity Fraser syndrome 2, FREM2-related disorder, Fraser syndrome 2
RS181564966 Health Risk Conflicting classifications of pathogenicity Fraser syndrome 2, Fraser syndrome 2
RS181720619 Health Risk Conflicting classifications of pathogenicity Fraser syndrome 2, Fraser syndrome 2
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