Lymphangiomyomatosis: genes and variants
Explore variant evidence for Lymphangiomyomatosis across 2 analyzed proteins (TSC2, TSC1). Linked ClinVar records include 2 pathogenic or likely pathogenic variants, 107 variants of uncertain significance and 69 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 2026-10-01. Automated aggregation, not a clinical review date.
Download variant evidence (CSV)
Genes linked to Lymphangiomyomatosis
TSC2: Tuberin
Together with TSC1, it inactivates RHEB and restrains mTORC1 when growth conditions are unfavorable. Loss-of-function variants cause tuberous sclerosis complex with hamartomas and tumors affecting the brain, kidneys, skin, heart, lungs, and other organs.
2 ClinVar pathogenic / likely pathogenic and 73 uncertain variants in TSC2 have source records linked to Lymphangiomyomatosis. Association strength is not clinical gene validity.
TSC1: Hamartin
Together with TSC2, it restrains RHEB and mTORC1 signaling, preventing inappropriate cell growth when nutrients or growth signals are limited. Loss-of-function variants cause tuberous sclerosis complex with hamartomas and tumors in the brain, kidney, skin, heart, lungs, and other organs.
0 ClinVar pathogenic / likely pathogenic and 102 uncertain variants in TSC1 have source records linked to Lymphangiomyomatosis. Association strength is not clinical gene validity.
Weakly linked (only a few uncertain records): NTHL1.
ClinVar pathogenic and likely pathogenic variants linked to Lymphangiomyomatosis
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| TSC2 H1746P | 1746 | Rap-GAP | Pathogenic / likely pathogenic (★★) |
| TSC2 R622P | 622 | Pathogenic / likely pathogenic (★) |
Same protein, different disease
- Tuberous sclerosis also has ClinVar records linked to TSC2 variants; they fall mostly in different places as the Lymphangiomyomatosis variants (57 pathogenic / likely pathogenic).
- Ovarian cancer also has ClinVar records linked to TSC2 variants; they fall mostly in different places as the Lymphangiomyomatosis variants (4 pathogenic / likely pathogenic).
Diseases related to Lymphangiomyomatosis
- Tuberous sclerosis, also linked to TSC1 and TSC2
- Ovarian cancer, also linked to TSC1 and TSC2
- Isolated focal cortical dysplasia type II, also linked to TSC1 and TSC2
- Tuberous sclerosis syndrome, also linked to TSC1 and TSC2
- Familial adenomatous polyposis, also linked to TSC2
- Malignant tumor of urinary bladder, also linked to TSC1
- Hepatocellular carcinoma, also linked to TSC2
Frequently asked questions
Which genes have records linked to Lymphangiomyomatosis?
This view contains 2 analyzed proteins: TSC2, TSC1. 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 2 pathogenic or likely pathogenic variants, 107 variants of uncertain significance and 69 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 184 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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