Autosomal recessive bestrophinopathy: genes and variants
Autosomal recessive bestrophinopathy is linked to 1 analyzed protein (BEST1). 22 DNA variants are known to cause it; 9 more are uncertain, and 0 of those already look disease-causing on computable evidence.
Last updated 2026-09-30. Research information, not medical advice.
Genes linked to Autosomal recessive bestrophinopathy
BEST1: Bestrophin-1
It helps regulate ion transport and fluid homeostasis across the retinal pigment epithelium. Pathogenic variants cause bestrophinopathies including Best vitelliform macular dystrophy, autosomal recessive bestrophinopathy, and some retinitis pigmentosa phenotypes.
22 disease-causing and 9 uncertain variants in BEST1 are linked to Autosomal recessive bestrophinopathy.
Where Autosomal recessive bestrophinopathy variants cluster
- BEST1 Cytoplasmic (positions 83–237): 14 of 22 disease-causing changes, 2.4× more than its size predicts.
Known disease-causing variants in Autosomal recessive bestrophinopathy
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| BEST1 R218C | 218 | Cytoplasmic | Disease-causing (★★★★) |
| BEST1 R122P | 122 | Cytoplasmic | Disease-causing (★★) |
| BEST1 R122W | 122 | Cytoplasmic | Disease-causing (★★) |
| BEST1 R105S | 105 | Cytoplasmic | Disease-causing (★★) |
| BEST1 P152S | 152 | Cytoplasmic | Disease-causing (★★) |
| BEST1 E213G | 213 | Cytoplasmic | Disease-causing (★★) |
| BEST1 P101L | 101 | Cytoplasmic | Disease-causing (★★) |
| BEST1 R130S | 130 | Cytoplasmic | Disease-causing (★★) |
| BEST1 L134V | 134 | Cytoplasmic | Disease-causing (★★) |
| BEST1 A195V | 195 | Cytoplasmic | Disease-causing (★★) |
| BEST1 I201T | 201 | Cytoplasmic | Disease-causing (★★) |
| BEST1 R255W | 255 | Transmembrane | Disease-causing (★★) |
| BEST1 R202W | 202 | Cytoplasmic | Disease-causing (★★) |
| BEST1 R13H | 13 | Cytoplasmic | Disease-causing (★★) |
| BEST1 F80L | 80 | Transmembrane | Disease-causing (★★) |
| BEST1 P468L | 468 | Cytoplasmic | Disease-causing (★★) |
| BEST1 R25Q | 25 | Cytoplasmic | Disease-causing (★★) |
| BEST1 R47H | 47 | Transmembrane | Disease-causing (★★) |
| BEST1 R92L | 92 | Cytoplasmic | Disease-causing |
| BEST1 V317M | 317 | Cytoplasmic | Disease-causing |
| BEST1 I232S | 232 | Cytoplasmic | Disease-causing |
| BEST1 P457R | 457 | Cytoplasmic | Disease-causing |
Same protein, different disease
- Vitelliform macular dystrophy 2 is also caused by BEST1 variants; they fall mostly in different places as the Autosomal recessive bestrophinopathy variants (39 disease-causing).
- Autosomal dominant vitreoretinochoroidopathy is also caused by BEST1 variants; they fall partly in the same places as the Autosomal recessive bestrophinopathy variants (9 disease-causing).
- Retinal disorder is also caused by BEST1 variants; they fall mostly in different places as the Autosomal recessive bestrophinopathy variants (4 disease-causing).
Diseases related to Autosomal recessive bestrophinopathy
- Retinitis pigmentosa, also linked to BEST1
- Vitelliform macular dystrophy 2, also linked to BEST1
- Retinal disorder, also linked to BEST1
- Autosomal dominant vitreoretinochoroidopathy, also linked to BEST1
- Isolated macular dystrophy, also linked to BEST1
- BEST1-related dominant retinopathy, also linked to BEST1
Frequently asked questions
Which genes are linked to Autosomal recessive bestrophinopathy?
In CATVariant, Autosomal recessive bestrophinopathy is linked to 1 analyzed protein: BEST1 (Bestrophin-1).
How many genetic variants are linked to Autosomal recessive bestrophinopathy?
42 variants: 22 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 9 are of uncertain significance or have conflicting reports.
Which uncertain variants in Autosomal recessive bestrophinopathy look disease-causing?
None of the uncertain variants currently reaches the likely-pathogenic range on computable evidence alone.
About this data
Variant–disease links come from ClinVar, Open Targets and UniProt, pooled from the latest public CATVariant analysis of each human protein. Evidence scores use the ACMG/AMP Bayesian points scale with computable criteria only (position among known disease variants, rarity in gnomAD, calibrated predictors, deep mutational scanning); there is no family or patient data, so they prioritise variants for expert review and never classify them.
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