GORAB Chromosome 1
Golgin, RAB6 interacting
Upload your DNA to see your personal genotypes for variants in GORAB.
What This Gene Does
This gene encodes a member of the golgin family, a group of coiled-coil proteins localized to the Golgi. The encoded protein may function in the secretory pathway. The encoded protein, which also localizes to the cytoplasm, was identified by interactions with the N-terminal kinase-like protein, and thus it may function in mitosis. Mutations in this gene have been associated with geroderma osteodysplastica. Alternatively spliced transcript variants have been described. [provided by RefSeq, Mar 2009]
Associated Conditions (3)
Inborn genetic diseases
Geroderma osteodysplastica
GORAB-related disorder
Key Variants
RS138420081
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS144791627
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS149089833
Conflicting classifications of pathogenicity
Geroderma osteodysplastica, Geroderma osteodysplastica
Health Risk
RS185701616
Conflicting classifications of pathogenicity
Geroderma osteodysplastica, Geroderma osteodysplastica
Health Risk
RS188031069
Conflicting classifications of pathogenicity
Geroderma osteodysplastica, Geroderma osteodysplastica
Health Risk
RS202005173
Conflicting classifications of pathogenicity
Geroderma osteodysplastica, Geroderma osteodysplastica
Health Risk
RS370271267
Conflicting classifications of pathogenicity
Geroderma osteodysplastica, Geroderma osteodysplastica
Health Risk
RS483352768
Conflicting classifications of pathogenicity
Health Risk
RS759432675
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS767686838
Conflicting classifications of pathogenicity
Geroderma osteodysplastica, Geroderma osteodysplastica
Health Risk
RS1648727775
Likely pathogenic
Health Risk
RS2101820716
Likely pathogenic
Health Risk
All Variants (50)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS138420081 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS144791627 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS149089833 | Health Risk | Conflicting classifications of pathogenicity | Geroderma osteodysplastica, Geroderma osteodysplastica |
| RS185701616 | Health Risk | Conflicting classifications of pathogenicity | Geroderma osteodysplastica, Geroderma osteodysplastica |
| RS188031069 | Health Risk | Conflicting classifications of pathogenicity | Geroderma osteodysplastica, Geroderma osteodysplastica |
| RS202005173 | Health Risk | Conflicting classifications of pathogenicity | Geroderma osteodysplastica, Geroderma osteodysplastica |
| RS370271267 | Health Risk | Conflicting classifications of pathogenicity | Geroderma osteodysplastica, Geroderma osteodysplastica |
| RS483352768 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS759432675 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS767686838 | Health Risk | Conflicting classifications of pathogenicity | Geroderma osteodysplastica, Geroderma osteodysplastica |
| RS1648727775 | Health Risk | Likely pathogenic | — |
| RS2101820716 | Health Risk | Likely pathogenic | — |
| RS2525929880 | Health Risk | Likely pathogenic | Geroderma osteodysplastica, Geroderma osteodysplastica |
| RS1172775558 | Health Risk | Pathogenic | — |
| RS1181703281 | Health Risk | Pathogenic | — |
| RS119455951 | Health Risk | Pathogenic | Geroderma osteodysplastica, GORAB-related disorder, Geroderma osteodysplastica |
| RS1296485321 | Health Risk | Pathogenic | — |
| RS1302735956 | Health Risk | Pathogenic | — |
| RS1322795745 | Health Risk | Pathogenic | — |
| RS1330106644 | Health Risk | Pathogenic | Geroderma osteodysplastica, Geroderma osteodysplastica |
| RS1395554751 | Health Risk | Pathogenic | — |
| RS1460371555 | Health Risk | Pathogenic | — |
| RS1461050152 | Health Risk | Pathogenic | Geroderma osteodysplastica, Geroderma osteodysplastica |
| RS1558004538 | Health Risk | Pathogenic | — |
| RS1571243797 | Health Risk | Pathogenic | Geroderma osteodysplastica, Geroderma osteodysplastica |
| RS1648707586 | Health Risk | Pathogenic | — |
| RS1649258525 | Health Risk | Pathogenic | — |
| RS1650151137 | Health Risk | Pathogenic | — |
| RS183596463 | Health Risk | Pathogenic | Geroderma osteodysplastica, Geroderma osteodysplastica |
| RS2101821379 | Health Risk | Pathogenic | — |
| RS2101821382 | Health Risk | Pathogenic | — |
| RS2525903731 | Health Risk | Pathogenic | — |
| RS2525903868 | Health Risk | Pathogenic | — |
| RS2525904182 | Health Risk | Pathogenic | — |
| RS2525929426 | Health Risk | Pathogenic | — |
| RS2525941193 | Health Risk | Pathogenic | — |
| RS2525948184 | Health Risk | Pathogenic | — |
| RS2525948734 | Health Risk | Pathogenic | — |
| RS2525970728 | Health Risk | Pathogenic | — |
| RS752751787 | Health Risk | Pathogenic | Inborn genetic diseases, Geroderma osteodysplastica, Inborn genetic diseases |
| RS761242807 | Health Risk | Pathogenic | — |
| RS770355472 | Health Risk | Pathogenic | — |
| RS772141546 | Health Risk | Pathogenic | — |
| RS780531933 | Health Risk | Pathogenic | — |
| RS1085307068 | Health Risk | Pathogenic/Likely pathogenic | Geroderma osteodysplastica, Geroderma osteodysplastica |
| RS119455952 | Health Risk | Pathogenic/Likely pathogenic | Geroderma osteodysplastica, Geroderma osteodysplastica |
| RS1557999318 | Health Risk | Pathogenic/Likely pathogenic | Geroderma osteodysplastica, Geroderma osteodysplastica |
| RS1558006532 | Health Risk | Pathogenic/Likely pathogenic | — |
| RS369967804 | Health Risk | Pathogenic/Likely pathogenic | Geroderma osteodysplastica, Geroderma osteodysplastica |
| RS747376663 | Health Risk | Pathogenic/Likely pathogenic | Geroderma osteodysplastica, Geroderma osteodysplastica |