VSX2 Chromosome 14

Visual system homeobox 2
58 variants 58 Health Risk

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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
RS114889622 Health Risk Conflicting classifications of pathogenicity Microphthalmia, isolated, with coloboma 3
RS141712104 Health Risk Conflicting classifications of pathogenicity Isolated microphthalmia 2, Microphthalmia, isolated
RS144840915 Health Risk Conflicting classifications of pathogenicity Isolated microphthalmia 2, Microphthalmia, isolated
RS147524933 Health Risk Conflicting classifications of pathogenicity Microphthalmia, isolated, with coloboma 3
RS148109679 Health Risk Conflicting classifications of pathogenicity Microphthalmia, isolated, with coloboma 3
RS150033933 Health Risk Conflicting classifications of pathogenicity Microphthalmia, isolated, with coloboma 3
RS182972044 Health Risk Conflicting classifications of pathogenicity Microphthalmia, isolated, with coloboma 3
RS189139917 Health Risk Conflicting classifications of pathogenicity Isolated microphthalmia 2, Isolated microphthalmia 2
RS192712847 Health Risk Conflicting classifications of pathogenicity Microphthalmia, isolated, with coloboma 3
RS201354547 Health Risk Conflicting classifications of pathogenicity Isolated microphthalmia 2, Microphthalmia, isolated
RS201395979 Health Risk Conflicting classifications of pathogenicity Isolated microphthalmia 2, Microphthalmia, isolated
RS28441537 Health Risk Conflicting classifications of pathogenicity Isolated microphthalmia 2, Microphthalmia, isolated
RS35214083 Health Risk Conflicting classifications of pathogenicity Isolated microphthalmia 2, Microphthalmia, isolated
RS371707151 Health Risk Conflicting classifications of pathogenicity Isolated microphthalmia 2, Microphthalmia, isolated
RS372651860 Health Risk Conflicting classifications of pathogenicity Microphthalmia, isolated, with coloboma 3
RS375237762 Health Risk Conflicting classifications of pathogenicity Isolated microphthalmia 2, Inborn genetic diseases, Isolated microphthalmia 2
RS375294678 Health Risk Conflicting classifications of pathogenicity Microphthalmia, isolated, with coloboma 3
RS377107974 Health Risk Conflicting classifications of pathogenicity Isolated microphthalmia 2, Microphthalmia, Isolated microphthalmia 2
RS550984628 Health Risk Conflicting classifications of pathogenicity Isolated microphthalmia 2, Microphthalmia, isolated
RS61747367 Health Risk Conflicting classifications of pathogenicity Isolated microphthalmia 2, Microphthalmia, isolated
RS750778630 Health Risk Conflicting classifications of pathogenicity Isolated microphthalmia 2, Microphthalmia, isolated
RS751526974 Health Risk Conflicting classifications of pathogenicity Isolated microphthalmia 2, Microphthalmia, isolated
RS752313464 Health Risk Conflicting classifications of pathogenicity Isolated microphthalmia 2, Microphthalmia, Isolated microphthalmia 2
RS759166720 Health Risk Conflicting classifications of pathogenicity Microphthalmia, isolated, with coloboma 3
RS76055170 Health Risk Conflicting classifications of pathogenicity Microphthalmia, Isolated microphthalmia 2, isolated
RS777886580 Health Risk Conflicting classifications of pathogenicity Microphthalmia, isolated, with coloboma 3
RS1555387462 Health Risk Likely pathogenic —
RS2504948671 Health Risk Likely pathogenic Isolated microphthalmia 2, Isolated microphthalmia 2
RS2504973070 Health Risk Likely pathogenic Isolated microphthalmia 2, Isolated microphthalmia 2
RS2504973201 Health Risk Likely pathogenic —
RS1033708386 Health Risk Pathogenic Isolated microphthalmia 2, Isolated microphthalmia 2, Isolated microphthalmia 2
RS1395124261 Health Risk Pathogenic Isolated microphthalmia 2, Microphthalmia, isolated
RS1409419238 Health Risk Pathogenic Isolated microphthalmia 2, Isolated microphthalmia 2
RS1566888340 Health Risk Pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS2139628331 Health Risk Pathogenic Isolated microphthalmia 2, Isolated microphthalmia 2
RS2139628344 Health Risk Pathogenic Isolated microphthalmia 2, Isolated microphthalmia 2
RS2139628382 Health Risk Pathogenic Isolated microphthalmia 2, Isolated microphthalmia 2
RS2139628524 Health Risk Pathogenic Isolated microphthalmia 2, Isolated microphthalmia 2
RS2139628604 Health Risk Pathogenic Isolated microphthalmia 2, Isolated microphthalmia 2
RS2139629943 Health Risk Pathogenic Isolated microphthalmia 2, Isolated microphthalmia 2
RS2139645825 Health Risk Pathogenic Isolated microphthalmia 2, Isolated microphthalmia 2
RS2139645844 Health Risk Pathogenic Isolated microphthalmia 2, Isolated microphthalmia 2
RS2477623961 Health Risk Pathogenic Isolated microphthalmia 2, Isolated microphthalmia 2
RS2504945051 Health Risk Pathogenic Isolated microphthalmia 2, Isolated microphthalmia 2
RS2504945525 Health Risk Pathogenic Isolated microphthalmia 2, Isolated microphthalmia 2
RS2504945945 Health Risk Pathogenic Isolated microphthalmia 2, Isolated microphthalmia 2
RS2504948607 Health Risk Pathogenic Isolated microphthalmia 2, Isolated microphthalmia 2
RS2504956615 Health Risk Pathogenic Isolated microphthalmia 2, Isolated microphthalmia 2
RS2504973144 Health Risk Pathogenic Isolated microphthalmia 2, Isolated microphthalmia 2
RS755799430 Health Risk Pathogenic Anophthalmia-microphthalmia syndrome, VSX2-related Microphthalmia, Isolated microphthalmia 2
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