Vitamin D-dependent rickets, type 1A: genes and variants
Explore variant evidence for Vitamin D-dependent rickets, type 1A across 1 analyzed protein (CYP27B1). Linked ClinVar records include 25 pathogenic or likely pathogenic variants, 53 variants of uncertain significance and 11 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. Source labels are pooled across this disease family.
Data updated 2026-10-11. Automated aggregation, not a clinical review date.
Download variant evidence (CSV)
Genes linked to Vitamin D-dependent rickets, type 1A
CYP27B1: 25-hydroxyvitamin D-1 alpha hydroxylase, mitochondrial
The kidney enzyme that converts 25-hydroxyvitamin D into active 1,25-dihydroxyvitamin D. Biallelic variants cause vitamin D-dependent rickets type 1A.
25 ClinVar pathogenic / likely pathogenic and 61 uncertain variants in CYP27B1 have source records linked to Vitamin D-dependent rickets, type 1A. Association strength is not clinical gene validity.
Weakly linked (only a few uncertain records): CYP3A4.
ClinVar pathogenic and likely pathogenic variants linked to Vitamin D-dependent rickets, type 1A
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| CYP27B1 R389H | 389 | Pathogenic / likely pathogenic (★★★★) | |
| CYP27B1 R459P | 459 | Pathogenic / likely pathogenic (★★) | |
| CYP27B1 R389C | 389 | Pathogenic / likely pathogenic (★★) | |
| CYP27B1 R459H | 459 | Pathogenic / likely pathogenic (★★) | |
| CYP27B1 R459L | 459 | Pathogenic / likely pathogenic (★★) | |
| CYP27B1 R459C | 459 | Pathogenic / likely pathogenic (★★) | |
| CYP27B1 R453C | 453 | Pathogenic / likely pathogenic (★★) | |
| CYP27B1 R453H | 453 | Pathogenic / likely pathogenic (★★) | |
| CYP27B1 G57V | 57 | Pathogenic / likely pathogenic (★★) | |
| CYP27B1 R432C | 432 | Pathogenic / likely pathogenic (★★) | |
| CYP27B1 T409I | 409 | Pathogenic / likely pathogenic (★★) | |
| CYP27B1 R492W | 492 | Pathogenic / likely pathogenic (★★) | |
| CYP27B1 P112L | 112 | Pathogenic / likely pathogenic (★★) | |
| CYP27B1 A129V | 129 | Pathogenic / likely pathogenic (★★) | |
| CYP27B1 R429P | 429 | Pathogenic / likely pathogenic (★★) | |
| CYP27B1 N387T | 387 | Pathogenic / likely pathogenic (★) | |
| CYP27B1 G125E | 125 | Pathogenic / likely pathogenic (★) | |
| CYP27B1 G208V | 208 | Pathogenic / likely pathogenic (★) | |
| CYP27B1 C411Y | 411 | Pathogenic / likely pathogenic (★) | |
| CYP27B1 R107H | 107 | Pathogenic / likely pathogenic (★) | |
| CYP27B1 H441Y | 441 | Pathogenic / likely pathogenic (★) | |
| CYP27B1 R389G | 389 | Pathogenic / likely pathogenic | |
| CYP27B1 T321R | 321 | Pathogenic / likely pathogenic | |
| CYP27B1 L343F | 343 | Pathogenic / likely pathogenic | |
| CYP27B1 R335P | 335 | Pathogenic / likely pathogenic |
Diseases related to Vitamin D-dependent rickets, type 1A
- Multiple sclerosis, also linked to CYP27B1
Frequently asked questions
Which genes have records linked to Vitamin D-dependent rickets, type 1A?
This view contains 1 analyzed proteins: CYP27B1. 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 25 pathogenic or likely pathogenic variants, 53 variants of uncertain significance and 11 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 100 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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