VSX2 Chromosome 14
Visual system homeobox 2
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What This Gene Does
This gene encodes a homeobox protein originally described as a retina-specific transcription factor. Mutations in this gene are associated with microphthalmia, cataracts and iris abnormalities. [provided by RefSeq, Oct 2009]
Gene Info
Gene Group
PRD class homeoboxes and pseudogenes
Locus Type
gene with protein product
Location
14q24.3
Ensembl
ENSG00000119614
Associated Conditions (12)
Microphthalmia
isolated
with coloboma 3
Isolated microphthalmia 2
VSX2-related disorder
Inborn genetic diseases
Retinitis pigmentosa
Anophthalmia-microphthalmia syndrome
VSX2-related Microphthalmia
cataracts
and iris abnormalities
Anophthalmia
Key Variants
RS114889622
Conflicting classifications of pathogenicity
Microphthalmia, isolated, with coloboma 3
Health Risk
RS141712104
Conflicting classifications of pathogenicity
Isolated microphthalmia 2, Microphthalmia, isolated
Health Risk
RS144840915
Conflicting classifications of pathogenicity
Isolated microphthalmia 2, Microphthalmia, isolated
Health Risk
RS147524933
Conflicting classifications of pathogenicity
Microphthalmia, isolated, with coloboma 3
Health Risk
RS148109679
Conflicting classifications of pathogenicity
Microphthalmia, isolated, with coloboma 3
Health Risk
RS150033933
Conflicting classifications of pathogenicity
Microphthalmia, isolated, with coloboma 3
Health Risk
RS182972044
Conflicting classifications of pathogenicity
Microphthalmia, isolated, with coloboma 3
Health Risk
RS189139917
Conflicting classifications of pathogenicity
Isolated microphthalmia 2, Isolated microphthalmia 2
Health Risk
RS192712847
Conflicting classifications of pathogenicity
Microphthalmia, isolated, with coloboma 3
Health Risk
RS201354547
Conflicting classifications of pathogenicity
Isolated microphthalmia 2, Microphthalmia, isolated
Health Risk
RS201395979
Conflicting classifications of pathogenicity
Isolated microphthalmia 2, Microphthalmia, isolated
Health Risk
RS28441537
Conflicting classifications of pathogenicity
Isolated microphthalmia 2, Microphthalmia, isolated
Health Risk
All Variants (58)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS755997898 | Health Risk | Pathogenic | Isolated microphthalmia 2, Isolated microphthalmia 2 |
| RS768459071 | Health Risk | Pathogenic | Isolated microphthalmia 2, Isolated microphthalmia 2 |
| RS774922468 | Health Risk | Pathogenic | Isolated microphthalmia 2, Isolated microphthalmia 2 |
| RS869025268 | Health Risk | Pathogenic | Anophthalmia-microphthalmia syndrome, Isolated microphthalmia 2, Anophthalmia-microphthalmia syndrome |
| RS121912543 | Health Risk | Pathogenic/Likely pathogenic | Microphthalmia, cataracts, and iris abnormalities |
| RS121912545 | Health Risk | Pathogenic/Likely pathogenic | Isolated microphthalmia 2, Microphthalmia, isolated |
| RS1389175061 | Health Risk | Pathogenic/Likely pathogenic | Isolated microphthalmia 2, Microphthalmia, isolated |
| RS752288097 | Health Risk | Pathogenic/Likely pathogenic | Isolated microphthalmia 2, Microphthalmia, isolated |