SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES: genes and variants
Explore variant evidence for SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES across 1 analyzed protein (OCA2). Linked ClinVar records include 28 pathogenic or likely pathogenic variants, 5 variants of uncertain significance and 16 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 2026-10-22. Automated aggregation, not a clinical review date.
Download variant evidence (CSV)
Genes linked to SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES
OCA2: P protein
28 ClinVar pathogenic / likely pathogenic and 20 uncertain variants in OCA2 have source records linked to SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES. Association strength is not clinical gene validity.
Weakly linked (only a few uncertain records): IRF4.
ClinVar pathogenic and likely pathogenic variants linked to SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| OCA2 N476S | 476 | Extracellular | Pathogenic / likely pathogenic (★★) |
| OCA2 N476D | 476 | Extracellular | Pathogenic / likely pathogenic (★★) |
| OCA2 G775D | 775 | Transmembrane | Pathogenic / likely pathogenic (★★) |
| OCA2 G775S | 775 | Transmembrane | Pathogenic / likely pathogenic (★★) |
| OCA2 G393V | 393 | Transmembrane | Pathogenic / likely pathogenic (★★) |
| OCA2 I473N | 473 | Extracellular | Pathogenic / likely pathogenic (★★) |
| OCA2 G485R | 485 | Extracellular | Pathogenic / likely pathogenic (★★) |
| OCA2 L527R | 527 | Transmembrane | Pathogenic / likely pathogenic (★★) |
| OCA2 T450M | 450 | Extracellular | Pathogenic / likely pathogenic (★★) |
| OCA2 A658V | 658 | Transmembrane | Pathogenic / likely pathogenic (★★) |
| OCA2 R720C | 720 | Extracellular | Pathogenic / likely pathogenic (★★) |
| OCA2 R720H | 720 | Extracellular | Pathogenic / likely pathogenic (★★) |
| OCA2 G782R | 782 | Extracellular | Pathogenic / likely pathogenic (★★) |
| OCA2 W554R | 554 | Cytoplasmic | Pathogenic / likely pathogenic (★★) |
| OCA2 L611P | 611 | Cytoplasmic | Pathogenic / likely pathogenic (★★) |
| OCA2 I739T | 739 | Cytoplasmic | Pathogenic / likely pathogenic (★★) |
| OCA2 A831P | 831 | Transmembrane | Pathogenic / likely pathogenic (★★) |
| OCA2 E96A | 96 | Cytoplasmic | Pathogenic / likely pathogenic (★★) |
| OCA2 A334V | 334 | Transmembrane | Pathogenic / likely pathogenic (★★) |
| OCA2 R572C | 572 | Cytoplasmic | Pathogenic / likely pathogenic (★★) |
| OCA2 S195G | 195 | Transmembrane | Pathogenic / likely pathogenic (★★) |
| OCA2 P211A | 211 | Extracellular | Pathogenic / likely pathogenic (★★) |
| OCA2 R290G | 290 | Extracellular | Pathogenic / likely pathogenic (★★) |
| OCA2 A776D | 776 | Transmembrane | Pathogenic / likely pathogenic (★) |
| OCA2 E678K | 678 | Cytoplasmic | Pathogenic / likely pathogenic (★) |
| OCA2 Y827H | 827 | Transmembrane | Pathogenic / likely pathogenic (★) |
| OCA2 R811K | 811 | Extracellular | Pathogenic / likely pathogenic (★) |
| OCA2 A787V | 787 | Extracellular | Pathogenic / likely pathogenic |
Which prediction tools work for SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES
Observed separation of ClinVar pathogenic / likely pathogenic from benign / likely benign variants (AUROC × 100). This benchmark is not a clinical recommendation.
- VARITY: 98 out of 100 (learned from overlapping clinical labels, so this is optimistic)
- AlphaGenome (regulatory): 97 out of 100 (learned from overlapping clinical labels, so this is optimistic)
- MetaSVM: 94 out of 100 (learned from overlapping clinical labels, so this is optimistic)
- EVE: 94 out of 100
- REVEL: 93 out of 100 (learned from overlapping clinical labels, so this is optimistic)
- MetaLR: 93 out of 100 (learned from overlapping clinical labels, so this is optimistic)
- CATVariant: 92 out of 100 (learned from overlapping clinical labels, so this is optimistic)
- ESM1b (LLR): 91 out of 100
- AlphaMissense: 91 out of 100
- PolyPhen-2: 90 out of 100 (learned from overlapping clinical labels, so this is optimistic)
- CADD: 90 out of 100
- SIFT: 89 out of 100
- MutPred2: 84 out of 100 (learned from overlapping clinical labels, so this is optimistic)
- phyloP: 79 out of 100
- AlphaGenome (splicing): 55 out of 100 (learned from overlapping clinical labels, so this is optimistic)
- Pangolin: 52 out of 100 (learned from overlapping clinical labels, so this is optimistic)
- SpliceAI: 47 out of 100 (learned from overlapping clinical labels, so this is optimistic)
Same protein, different disease
- Tyrosinase-positive oculocutaneous albinism also has ClinVar records linked to OCA2 variants; they fall partly in the same places as the SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES variants (41 pathogenic / likely pathogenic).
- Oculocutaneous albinism also has ClinVar records linked to OCA2 variants; they fall partly in the same places as the SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES variants (17 pathogenic / likely pathogenic).
- Albinism or congenital nystagmus also has ClinVar records linked to OCA2 variants; they fall mostly in different places as the SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES variants (4 pathogenic / likely pathogenic).
Diseases related to SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES
- Tyrosinase-positive oculocutaneous albinism, also linked to OCA2
- Oculocutaneous albinism, also linked to OCA2
- Basal cell carcinoma, also linked to OCA2
- Albinism or congenital nystagmus, also linked to OCA2
- Melanoma, also linked to OCA2
- Cataract, also linked to OCA2
Frequently asked questions
Which genes have records linked to SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES?
This view contains 1 analyzed proteins: OCA2. 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 28 pathogenic or likely pathogenic variants, 5 variants of uncertain significance and 16 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 51 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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