GRHL3 Chromosome 1
Grainyhead like transcription factor 3
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What This Gene Does
This gene encodes a member of the grainyhead family of transcription factors. The encoded protein may function as a transcription factor during development, and has been shown to stimulate migration of endothelial cells. Multiple transcript variants encoding distinct isoforms have been identified for this gene.[provided by RefSeq, Aug 2010]
Associated Conditions (5)
Van der Woude syndrome 2
Inborn genetic diseases
GRHL3-related disorder
Van der Woude syndrome 1
Isolated cleft palate
Key Variants
RS138381915
Conflicting classifications of pathogenicity
Van der Woude syndrome 2, Inborn genetic diseases, GRHL3-related disorder
Health Risk
RS147284380
Conflicting classifications of pathogenicity
Van der Woude syndrome 2, GRHL3-related disorder, Inborn genetic diseases
Health Risk
RS200103413
Conflicting classifications of pathogenicity
Van der Woude syndrome 2, Van der Woude syndrome 2
Health Risk
RS200425622
Conflicting classifications of pathogenicity
Van der Woude syndrome 2, Van der Woude syndrome 2
Health Risk
RS371889064
Conflicting classifications of pathogenicity
Van der Woude syndrome 2, GRHL3-related disorder, Van der Woude syndrome 2
Health Risk
RS770938921
Conflicting classifications of pathogenicity
Van der Woude syndrome 1, Van der Woude syndrome 1
Health Risk
RS886037767
Conflicting classifications of pathogenicity
Isolated cleft palate, Van der Woude syndrome 2, Isolated cleft palate
Health Risk
RS2148651821
Likely pathogenic
Isolated cleft palate, Isolated cleft palate
Health Risk
RS2522581753
Likely pathogenic
Health Risk
RS2522582333
Likely pathogenic
Van der Woude syndrome 2, Van der Woude syndrome 2
Health Risk
RS2522608482
Likely pathogenic
Van der Woude syndrome 2, Van der Woude syndrome 2
Health Risk
RS2522621962
Likely pathogenic
GRHL3-related disorder, GRHL3-related disorder
Health Risk
All Variants (25)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS138381915 | Health Risk | Conflicting classifications of pathogenicity | Van der Woude syndrome 2, Inborn genetic diseases, GRHL3-related disorder |
| RS147284380 | Health Risk | Conflicting classifications of pathogenicity | Van der Woude syndrome 2, GRHL3-related disorder, Inborn genetic diseases |
| RS200103413 | Health Risk | Conflicting classifications of pathogenicity | Van der Woude syndrome 2, Van der Woude syndrome 2 |
| RS200425622 | Health Risk | Conflicting classifications of pathogenicity | Van der Woude syndrome 2, Van der Woude syndrome 2 |
| RS371889064 | Health Risk | Conflicting classifications of pathogenicity | Van der Woude syndrome 2, GRHL3-related disorder, Van der Woude syndrome 2 |
| RS770938921 | Health Risk | Conflicting classifications of pathogenicity | Van der Woude syndrome 1, Van der Woude syndrome 1 |
| RS886037767 | Health Risk | Conflicting classifications of pathogenicity | Isolated cleft palate, Van der Woude syndrome 2, Isolated cleft palate |
| RS2148651821 | Health Risk | Likely pathogenic | Isolated cleft palate, Isolated cleft palate |
| RS2522581753 | Health Risk | Likely pathogenic | — |
| RS2522582333 | Health Risk | Likely pathogenic | Van der Woude syndrome 2, Van der Woude syndrome 2 |
| RS2522608482 | Health Risk | Likely pathogenic | Van der Woude syndrome 2, Van der Woude syndrome 2 |
| RS2522621962 | Health Risk | Likely pathogenic | GRHL3-related disorder, GRHL3-related disorder |
| RS2522646617 | Health Risk | Likely pathogenic | Van der Woude syndrome 2, Van der Woude syndrome 2 |
| RS797044857 | Health Risk | Likely pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS1315515436 | Health Risk | Pathogenic | Isolated cleft palate, Isolated cleft palate |
| RS1553172687 | Health Risk | Pathogenic | Van der Woude syndrome 2, Van der Woude syndrome 2 |
| RS2522622618 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS752673677 | Health Risk | Pathogenic | Van der Woude syndrome 2, Van der Woude syndrome 2 |
| RS879255243 | Health Risk | Pathogenic | Van der Woude syndrome 2, Van der Woude syndrome 2 |
| RS879255244 | Health Risk | Pathogenic | Van der Woude syndrome 2, Van der Woude syndrome 2, Van der Woude syndrome 2 |
| RS879255573 | Health Risk | Pathogenic | Van der Woude syndrome 2, Van der Woude syndrome 2 |
| RS886037768 | Health Risk | Pathogenic | Isolated cleft palate, Isolated cleft palate |
| RS886037769 | Health Risk | Pathogenic | Isolated cleft palate, Isolated cleft palate |
| RS886037770 | Health Risk | Pathogenic | Isolated cleft palate, Isolated cleft palate |
| RS879255245 | Health Risk | Pathogenic/Likely pathogenic | Van der Woude syndrome 2, Van der Woude syndrome 2 |