Neutral 1 amino acid transport defect: genes and variants
Explore variant evidence for Neutral 1 amino acid transport defect across 1 analyzed protein (SLC6A19). Linked ClinVar records include 7 pathogenic or likely pathogenic variants, 86 variants of uncertain significance and 10 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 Neutral 1 amino acid transport defect
SLC6A19: Sodium-dependent neutral amino acid transporter B(0)AT1
A sodium-dependent transporter that absorbs neutral amino acids across intestinal and kidney epithelial cells. Loss of function causes Hartnup disorder.
7 ClinVar pathogenic / likely pathogenic and 96 uncertain variants in SLC6A19 have source records linked to Neutral 1 amino acid transport defect. Association strength is not clinical gene validity.
ClinVar pathogenic and likely pathogenic variants linked to Neutral 1 amino acid transport defect
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| SLC6A19 G93R | 93 | Cytoplasmic | Pathogenic / likely pathogenic (★★) |
| SLC6A19 G284R | 284 | Transmembrane | Pathogenic / likely pathogenic (★★) |
| SLC6A19 E501K | 501 | Transmembrane | Pathogenic / likely pathogenic (★★) |
| SLC6A19 D517G | 517 | Cytoplasmic | Pathogenic / likely pathogenic (★★) |
| SLC6A19 P579L | 579 | Extracellular | Pathogenic / likely pathogenic (★★) |
| SLC6A19 G66R | 66 | Extracellular | Pathogenic / likely pathogenic (★) |
| SLC6A19 R57H | 57 | Transmembrane | Pathogenic / likely pathogenic (★) |
Uncertain variants prioritized for review in Neutral 1 amino acid transport defect
| Variant | Position | Protein part | Clinical label | Evidence |
|---|---|---|---|---|
| SLC6A19 R57C | 57 | Transmembrane | Conflicting reports (★) | +6: in a 3D region that tolerates change poorly (2R); R57H at the same position is pathogenic; REVEL 0.877 |
Diseases related to Neutral 1 amino acid transport defect
- Iminoglycinuria, also linked to SLC6A19
Frequently asked questions
Which genes have records linked to Neutral 1 amino acid transport defect?
This view contains 1 analyzed proteins: SLC6A19. 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 7 pathogenic or likely pathogenic variants, 86 variants of uncertain significance and 10 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. 1 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 104 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.
Download every variant as CSV · Browse all diseases · Methods · About the Center