GNPAT Chromosome 1

Glyceronephosphate O-acyltransferase
79 variants 79 Health Risk

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

What This Gene Does
This gene encodes an enzyme located in the peroxisomal membrane which is essential to the synthesis of ether phospholipids. Mutations in this gene are associated with rhizomelic chondrodysplasia punctata. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015]
Associated Conditions (12)
Rhizomelic chondrodysplasia punctata type 2
GNPAT-related disorder
Inborn genetic diseases
Colon adenocarcinoma
Familial cancer of breast
Colorectal cancer
Thyroid cancer
nonmedullary
1
Malignant tumor of esophagus
Cervical cancer
Rhizomelic chondrodysplasia punctata
Key Variants
RS1369256964
Conflicting classifications of pathogenicity
Rhizomelic chondrodysplasia punctata type 2, Rhizomelic chondrodysplasia punctata type 2
Health Risk
RS139272614
Conflicting classifications of pathogenicity
Rhizomelic chondrodysplasia punctata type 2, GNPAT-related disorder, Rhizomelic chondrodysplasia punctata type 2
Health Risk
RS142283145
Conflicting classifications of pathogenicity
Rhizomelic chondrodysplasia punctata type 2, Inborn genetic diseases, Colon adenocarcinoma
Health Risk
RS142487190
Conflicting classifications of pathogenicity
Rhizomelic chondrodysplasia punctata type 2, Inborn genetic diseases, Rhizomelic chondrodysplasia punctata type 2
Health Risk
RS143388851
Conflicting classifications of pathogenicity
Rhizomelic chondrodysplasia punctata type 2, Rhizomelic chondrodysplasia punctata type 2
Health Risk
RS188474049
Conflicting classifications of pathogenicity
Rhizomelic chondrodysplasia punctata type 2, Rhizomelic chondrodysplasia punctata type 2
Health Risk
RS199844062
Conflicting classifications of pathogenicity
Rhizomelic chondrodysplasia punctata type 2, Rhizomelic chondrodysplasia punctata type 2
Health Risk
RS199905093
Conflicting classifications of pathogenicity
Rhizomelic chondrodysplasia punctata type 2, Rhizomelic chondrodysplasia punctata type 2
Health Risk
RS201538200
Conflicting classifications of pathogenicity
Rhizomelic chondrodysplasia punctata type 2, Rhizomelic chondrodysplasia punctata type 2
Health Risk
RS201916449
Conflicting classifications of pathogenicity
Rhizomelic chondrodysplasia punctata type 2, Rhizomelic chondrodysplasia punctata type 2
Health Risk
RS202033127
Conflicting classifications of pathogenicity
Rhizomelic chondrodysplasia punctata type 2, Rhizomelic chondrodysplasia punctata type 2
Health Risk
RS2296166
Conflicting classifications of pathogenicity
Rhizomelic chondrodysplasia punctata type 2, Rhizomelic chondrodysplasia punctata type 2
Health Risk
All Variants (79)
RSID Category Clinical Significance Conditions
RS1369256964 Health Risk Conflicting classifications of pathogenicity Rhizomelic chondrodysplasia punctata type 2, Rhizomelic chondrodysplasia punctata type 2
RS139272614 Health Risk Conflicting classifications of pathogenicity Rhizomelic chondrodysplasia punctata type 2, GNPAT-related disorder, Rhizomelic chondrodysplasia punctata type 2
RS142283145 Health Risk Conflicting classifications of pathogenicity Rhizomelic chondrodysplasia punctata type 2, Inborn genetic diseases, Colon adenocarcinoma
RS142487190 Health Risk Conflicting classifications of pathogenicity Rhizomelic chondrodysplasia punctata type 2, Inborn genetic diseases, Rhizomelic chondrodysplasia punctata type 2
RS143388851 Health Risk Conflicting classifications of pathogenicity Rhizomelic chondrodysplasia punctata type 2, Rhizomelic chondrodysplasia punctata type 2
RS188474049 Health Risk Conflicting classifications of pathogenicity Rhizomelic chondrodysplasia punctata type 2, Rhizomelic chondrodysplasia punctata type 2
RS199844062 Health Risk Conflicting classifications of pathogenicity Rhizomelic chondrodysplasia punctata type 2, Rhizomelic chondrodysplasia punctata type 2
RS199905093 Health Risk Conflicting classifications of pathogenicity Rhizomelic chondrodysplasia punctata type 2, Rhizomelic chondrodysplasia punctata type 2
RS201538200 Health Risk Conflicting classifications of pathogenicity Rhizomelic chondrodysplasia punctata type 2, Rhizomelic chondrodysplasia punctata type 2
RS201916449 Health Risk Conflicting classifications of pathogenicity Rhizomelic chondrodysplasia punctata type 2, Rhizomelic chondrodysplasia punctata type 2
RS202033127 Health Risk Conflicting classifications of pathogenicity Rhizomelic chondrodysplasia punctata type 2, Rhizomelic chondrodysplasia punctata type 2
RS2296166 Health Risk Conflicting classifications of pathogenicity Rhizomelic chondrodysplasia punctata type 2, Rhizomelic chondrodysplasia punctata type 2
RS34613633 Health Risk Conflicting classifications of pathogenicity Rhizomelic chondrodysplasia punctata type 2, Colon adenocarcinoma, Familial cancer of breast
RS370837823 Health Risk Conflicting classifications of pathogenicity Rhizomelic chondrodysplasia punctata type 2, Rhizomelic chondrodysplasia punctata type 2
RS371142386 Health Risk Conflicting classifications of pathogenicity Rhizomelic chondrodysplasia punctata type 2, Rhizomelic chondrodysplasia punctata type 2
RS745935206 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS748279875 Health Risk Conflicting classifications of pathogenicity Rhizomelic chondrodysplasia punctata type 2, Rhizomelic chondrodysplasia punctata type 2
RS775776447 Health Risk Conflicting classifications of pathogenicity —
RS776118687 Health Risk Conflicting classifications of pathogenicity Rhizomelic chondrodysplasia punctata type 2, Rhizomelic chondrodysplasia punctata type 2
RS1185964193 Health Risk Likely pathogenic Rhizomelic chondrodysplasia punctata type 2, Rhizomelic chondrodysplasia punctata type 2
RS121434440 Health Risk Likely pathogenic Rhizomelic chondrodysplasia punctata type 2, Rhizomelic chondrodysplasia punctata, Rhizomelic chondrodysplasia punctata type 2
RS1558334598 Health Risk Likely pathogenic —
RS1571946866 Health Risk Likely pathogenic Rhizomelic chondrodysplasia punctata type 2, Rhizomelic chondrodysplasia punctata type 2
RS1571955307 Health Risk Likely pathogenic Rhizomelic chondrodysplasia punctata type 2, Rhizomelic chondrodysplasia punctata type 2
RS1685194348 Health Risk Likely pathogenic Rhizomelic chondrodysplasia punctata type 2, Rhizomelic chondrodysplasia punctata type 2
RS1685373168 Health Risk Likely pathogenic —
RS1685540239 Health Risk Likely pathogenic Rhizomelic chondrodysplasia punctata type 2, Rhizomelic chondrodysplasia punctata type 2
RS2102823618 Health Risk Likely pathogenic —
RS2526845931 Health Risk Likely pathogenic Rhizomelic chondrodysplasia punctata type 2, Rhizomelic chondrodysplasia punctata type 2
RS2526967162 Health Risk Likely pathogenic Rhizomelic chondrodysplasia punctata type 2, Rhizomelic chondrodysplasia punctata type 2
RS2526991704 Health Risk Likely pathogenic Rhizomelic chondrodysplasia punctata type 2, Rhizomelic chondrodysplasia punctata type 2
RS2527012751 Health Risk Likely pathogenic Rhizomelic chondrodysplasia punctata type 2, Rhizomelic chondrodysplasia punctata type 2
RS2527016878 Health Risk Likely pathogenic —
RS2527017267 Health Risk Likely pathogenic Rhizomelic chondrodysplasia punctata type 2, Rhizomelic chondrodysplasia punctata type 2
RS2527022406 Health Risk Likely pathogenic —
RS2527022409 Health Risk Likely pathogenic —
RS2527024491 Health Risk Likely pathogenic Rhizomelic chondrodysplasia punctata type 2, Rhizomelic chondrodysplasia punctata type 2
RS2527024495 Health Risk Likely pathogenic Rhizomelic chondrodysplasia punctata type 2, Rhizomelic chondrodysplasia punctata type 2
RS2527024799 Health Risk Likely pathogenic Rhizomelic chondrodysplasia punctata type 2, Rhizomelic chondrodysplasia punctata type 2
RS2527024851 Health Risk Likely pathogenic Rhizomelic chondrodysplasia punctata type 2, Rhizomelic chondrodysplasia punctata type 2
RS2527024941 Health Risk Likely pathogenic Rhizomelic chondrodysplasia punctata type 2, Rhizomelic chondrodysplasia punctata type 2
RS2527028635 Health Risk Likely pathogenic Rhizomelic chondrodysplasia punctata type 2, Rhizomelic chondrodysplasia punctata type 2
RS2527028830 Health Risk Likely pathogenic Rhizomelic chondrodysplasia punctata type 2, Rhizomelic chondrodysplasia punctata type 2
RS2527036970 Health Risk Likely pathogenic Rhizomelic chondrodysplasia punctata type 2, Rhizomelic chondrodysplasia punctata type 2
RS2527044242 Health Risk Likely pathogenic —
RS2527044274 Health Risk Likely pathogenic Rhizomelic chondrodysplasia punctata type 2, Rhizomelic chondrodysplasia punctata type 2
RS2527044284 Health Risk Likely pathogenic Rhizomelic chondrodysplasia punctata type 2, Rhizomelic chondrodysplasia punctata type 2
RS2527044533 Health Risk Likely pathogenic Rhizomelic chondrodysplasia punctata type 2, Rhizomelic chondrodysplasia punctata type 2
RS2527044560 Health Risk Likely pathogenic Rhizomelic chondrodysplasia punctata type 2, Rhizomelic chondrodysplasia punctata type 2
RS2527044612 Health Risk Likely pathogenic Rhizomelic chondrodysplasia punctata type 2, Rhizomelic chondrodysplasia punctata type 2
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