Amyloidosis, hereditary systemic 1: genes and variants
Amyloidosis, hereditary systemic 1 is linked to 2 analyzed proteins (TTR and B2M). 102 DNA variants are known to cause it; 83 more are uncertain, and 0 of those already look disease-causing on computable evidence.
Last updated 2026-09-30. Research information, not medical advice.
Also known as: amyloidosis, hereditary systemic 6
Genes linked to Amyloidosis, hereditary systemic 1
TTR: Transthyretin
Its tetramer transports thyroxine and retinol-binding protein, but destabilization can expose aggregation-prone monomers. Pathogenic variants cause hereditary transthyretin amyloidosis affecting peripheral nerves and heart, while wild-type protein can also form cardiac amyloid with aging.
101 disease-causing and 74 uncertain variants in TTR are linked to Amyloidosis, hereditary systemic 1.
B2M: Beta-2-microglobulin
It is required for stable surface expression of MHC class I molecules and therefore for presentation of intracellular peptides to CD8 T cells. Loss of expression can help tumors evade immune recognition, while circulating beta-2-microglobulin is also used as a biomarker in several hematologic diseases.
1 disease-causing and 9 uncertain variants in B2M are linked to Amyloidosis, hereditary systemic 1.
Weakly linked (only a few uncertain records): TNNI3.
Known disease-causing variants in Amyloidosis, hereditary systemic 1
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| TTR C30R | 30 | Disease-causing (★★) | |
| TTR P44S | 44 | Disease-causing (★★) | |
| TTR F84L | 84 | Disease-causing (★★) | |
| TTR A117S | 117 | Disease-causing (★★) | |
| TTR L32P | 32 | Disease-causing (★★) | |
| TTR D38G | 38 | Disease-causing (★★) | |
| TTR D38E | 38 | Disease-causing (★★) | |
| TTR D38N | 38 | Disease-causing (★★) | |
| TTR V40I | 40 | Disease-causing (★★) | |
| TTR V40A | 40 | Disease-causing (★★) | |
| TTR F53L | 53 | Disease-causing (★★) | |
| TTR T69I | 69 | Disease-causing (★★) | |
| TTR E74K | 74 | Disease-causing (★★) | |
| TTR E74Q | 74 | Disease-causing (★★) | |
| TTR E74G | 74 | Disease-causing (★★) | |
| TTR L78H | 78 | Disease-causing (★★) | |
| TTR F84S | 84 | Disease-causing (★★) | |
| TTR E109K | 109 | Disease-causing (★★) | |
| TTR V50A | 50 | Disease-causing (★★) | |
| TTR F53C | 53 | Disease-causing (★★) | |
| TTR A56P | 56 | Disease-causing (★★) | |
| TTR S70R | 70 | Disease-causing (★★) | |
| TTR E74L | 74 | Disease-causing (★★) | |
| TTR E74S | 74 | Disease-causing (★★) | |
| TTR E81K | 81 | Disease-causing (★★) | |
| TTR I104S | 104 | Disease-causing (★★) | |
| TTR I104T | 104 | Disease-causing (★★) | |
| TTR Y136S | 136 | Disease-causing (★★) | |
| TTR L32V | 32 | Disease-causing (★★) | |
| TTR A39D | 39 | Disease-causing (★★) | |
| TTR V50L | 50 | Disease-causing (★★) | |
| TTR V52A | 52 | Disease-causing (★★) | |
| TTR R54T | 54 | Disease-causing (★★) | |
| TTR D58H | 58 | Disease-causing (★★) | |
| TTR D58A | 58 | Disease-causing (★★) | |
| TTR D58V | 58 | Disease-causing (★★) | |
| TTR F64S | 64 | Disease-causing (★★) | |
| TTR A65D | 65 | Disease-causing (★★) | |
| TTR A65V | 65 | Disease-causing (★★) | |
| TTR A65T | 65 | Disease-causing (★★) | |
| TTR G67A | 67 | Disease-causing (★★) | |
| TTR G67E | 67 | Disease-causing (★★) | |
| TTR G67V | 67 | Disease-causing (★★) | |
| TTR G73R | 73 | Disease-causing (★★) | |
| TTR T80I | 80 | Disease-causing (★★) | |
| TTR E81G | 81 | Disease-causing (★★) | |
| TTR G87R | 87 | Disease-causing (★★) | |
| TTR Y89H | 89 | Disease-causing (★★) | |
| TTR S97Y | 97 | Disease-causing (★★) | |
| TTR H108R | 108 | Disease-causing (★★) | |
| TTR E109V | 109 | Disease-causing (★★) | |
| TTR E109Q | 109 | Disease-causing (★★) | |
| TTR E109D | 109 | Disease-causing (★★) | |
| TTR A117G | 117 | Disease-causing (★★) | |
| TTR I127M | 127 | Disease-causing (★★) | |
| TTR I127V | 127 | Disease-causing (★★) | |
| TTR S43N | 43 | Disease-causing (★★) | |
| TTR V48M | 48 | Disease-causing (★★) | |
| TTR K55N | 55 | Disease-causing (★★) | |
| TTR S72P | 72 | Disease-causing (★★) |
Showing 60 of 102.
Diseases related to Amyloidosis, hereditary systemic 1
- Charcot-Marie-Tooth disease, also linked to TTR
- Carpal tunnel syndrome, also linked to TTR
- Hyperthyroxinemia, dystransthyretinemic, also linked to TTR
- Hypoproteinemia, hypercatabolic, also linked to B2M
Frequently asked questions
Which genes are linked to Amyloidosis, hereditary systemic 1?
In CATVariant, Amyloidosis, hereditary systemic 1 is linked to 2 analyzed proteins: TTR (Transthyretin) and B2M (Beta-2-microglobulin).
How many genetic variants are linked to Amyloidosis, hereditary systemic 1?
204 variants: 102 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 83 are of uncertain significance or have conflicting reports.
Which uncertain variants in Amyloidosis, hereditary systemic 1 look disease-causing?
None of the uncertain variants currently reaches the likely-pathogenic range on computable evidence alone.
About this data
Variant–disease links come from ClinVar, Open Targets and UniProt, pooled from the latest public CATVariant analysis 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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