GUCY2D-related recessive retinopathy: genes and variants
Explore variant evidence for GUCY2D-related recessive retinopathy across 1 analyzed protein (GUCY2D). Linked ClinVar records include 20 pathogenic or likely pathogenic variants, 8 variants of uncertain significance and 0 with conflicting classifications.
Coverage includes proteins already analyzed in CATVariant, not every gene involved in this condition. Database links are associations, not an assessment of clinical gene–disease validity. Computable evidence prioritizes variants for expert review and does not reclassify them. Counts refer to the selected disease label.
Data updated 2026-10-11. Automated aggregation, not a clinical review date.
Download variant evidence (CSV)
Genes linked to GUCY2D-related recessive retinopathy
GUCY2D: Retinal guanylyl cyclase 1
A retinal guanylate cyclase that restores cGMP levels in rod and cone photoreceptors during visual signaling. Biallelic pathogenic variants commonly cause Leber congenital amaurosis, while certain dominant variants cause cone-rod dystrophy.
20 ClinVar pathogenic / likely pathogenic and 8 uncertain variants in GUCY2D have source records linked to GUCY2D-related recessive retinopathy. Association strength is not clinical gene validity.
Where GUCY2D-related recessive retinopathy variants cluster
- GUCY2D Guanylate cyclase (positions 880–1010): 4 of 20 ClinVar pathogenic / likely pathogenic variants, 1.7× more than its size predicts.
ClinVar pathogenic and likely pathogenic variants linked to GUCY2D-related recessive retinopathy
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| GUCY2D H1019P | 1019 | Cytoplasmic | Pathogenic / likely pathogenic (★★★) |
| GUCY2D R768Q | 768 | Protein kinase | Pathogenic / likely pathogenic (★★★) |
| GUCY2D R768W | 768 | Protein kinase | Pathogenic / likely pathogenic (★★★) |
| GUCY2D V242G | 242 | Extracellular | Pathogenic / likely pathogenic (★★★) |
| GUCY2D S248W | 248 | Extracellular | Pathogenic / likely pathogenic (★★★) |
| GUCY2D P711L | 711 | Protein kinase | Pathogenic / likely pathogenic (★★★) |
| GUCY2D R976L | 976 | Guanylate cyclase | Pathogenic / likely pathogenic (★★★) |
| GUCY2D R995W | 995 | Guanylate cyclase | Pathogenic / likely pathogenic (★★★) |
| GUCY2D T312M | 312 | Extracellular | Pathogenic / likely pathogenic (★★★) |
| GUCY2D Y351C | 351 | Extracellular | Pathogenic / likely pathogenic (★★★) |
| GUCY2D R795Q | 795 | Protein kinase | Pathogenic / likely pathogenic (★★★) |
| GUCY2D Y922C | 922 | Guanylate cyclase | Pathogenic / likely pathogenic (★★★) |
| GUCY2D M1I | 1 | Pathogenic / likely pathogenic (★★★) | |
| GUCY2D R313C | 313 | Extracellular | Pathogenic / likely pathogenic (★★★) |
| GUCY2D F565S | 565 | Protein kinase | Pathogenic / likely pathogenic (★★★) |
| GUCY2D R588W | 588 | Protein kinase | Pathogenic / likely pathogenic (★★★) |
| GUCY2D A946T | 946 | Guanylate cyclase | Pathogenic / likely pathogenic (★★★) |
| GUCY2D E103K | 103 | Extracellular | Pathogenic / likely pathogenic (★★★) |
| GUCY2D T280R | 280 | Extracellular | Pathogenic / likely pathogenic (★★★) |
| GUCY2D R666W | 666 | Protein kinase | Pathogenic / likely pathogenic (★★★) |
Which prediction tools work for GUCY2D-related recessive retinopathy
Observed separation of ClinVar pathogenic / likely pathogenic from benign / likely benign variants (AUROC × 100). This benchmark is not a clinical recommendation.
- CATVariant: 99 out of 100 (learned from overlapping clinical labels, so this is optimistic)
- CADD: 99 out of 100
- REVEL: 99 out of 100 (learned from overlapping clinical labels, so this is optimistic)
- AlphaMissense: 96 out of 100
- PolyPhen-2: 96 out of 100 (learned from overlapping clinical labels, so this is optimistic)
- AlphaGenome (regulatory): 95 out of 100 (learned from overlapping clinical labels, so this is optimistic)
- SIFT: 95 out of 100
- ESM1b (LLR): 94 out of 100
- phyloP: 85 out of 100
- AlphaGenome (splicing): 54 out of 100 (learned from overlapping clinical labels, so this is optimistic)
Same protein, different disease
- Leber congenital amaurosis also has ClinVar records linked to GUCY2D variants; they fall mostly in different places as the GUCY2D-related recessive retinopathy variants (38 pathogenic / likely pathogenic).
- Cone rod dystrophy also has ClinVar records linked to GUCY2D variants; they fall mostly in different places as the GUCY2D-related recessive retinopathy variants (21 pathogenic / likely pathogenic).
Diseases related to GUCY2D-related recessive retinopathy
- Retinitis pigmentosa, also linked to GUCY2D
- Leber congenital amaurosis, also linked to GUCY2D
- Cone rod dystrophy, also linked to GUCY2D
- Retinal disorder, also linked to GUCY2D
- Choroidal dystrophy, central areolar 2, also linked to GUCY2D
Frequently asked questions
Which genes have records linked to GUCY2D-related recessive retinopathy?
This view contains 1 analyzed proteins: GUCY2D. Links come from clinical records and association databases. They do not imply that every listed gene is a validated cause, and missing genes may not yet be analyzed.
What do the clinical classifications mean?
Linked records include 20 pathogenic or likely pathogenic variants, 8 variants of uncertain significance and 0 with conflicting classifications. Labels summarize source records; multi-condition records may not make a separate assertion for this disease. Check the original record and review status.
Does the evidence score change a VUS classification?
No. 0 VUS or conflicting variants reach the likely-pathogenic points range on the computable criteria available here. This is a research prioritization signal, not a clinical classification. Patient, family and other required evidence may be missing.
Can I download the variant evidence?
Download the CSV for all 49 variants in the selected disease scope, including clinical labels, review status, evidence criteria, predictor scores, functional measurements and population frequency where available.
About this data
Variant–disease links come from ClinVar, Open Targets and UniProt, pooled from eligible public CATVariant analyses 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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