| Variant | Gene | Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
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A | 0.800 | CausalMutation | CLINVAR | Contribution of the TTC21B gene to glomerular and cystic kidney diseases. | 26940125 | 2017 | ||||||
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A | 0.800 | CausalMutation | CLINVAR | A homozygous missense mutation in the ciliary gene TTC21B causes familial FSGS. | 24876116 | 2014 | ||||||
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0.800 | GeneticVariation | UNIPROT | TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum. | 21258341 | 2011 | |||||||
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A | 0.710 | CausalMutation | CLINVAR | Notably, tubular basement membrane thickening reminiscent of that observed in nephronophthisis was present in patients with FSGS and the p.P209L mutation. | 24876116 | 2014 | ||||||
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0.710 | GeneticVariation | BEFREE | Notably, tubular basement membrane thickening reminiscent of that observed in nephronophthisis was present in patients with FSGS and the p.P209L mutation. | 24876116 | 2014 | |||||||
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A | 0.710 | CausalMutation | CLINVAR | TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum. | 21258341 | 2011 | ||||||
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A | 0.700 | CausalMutation | CLINVAR | Contribution of the TTC21B gene to glomerular and cystic kidney diseases. | 26940125 | 2017 | ||||||
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A | 0.700 | CausalMutation | CLINVAR | Contribution of the TTC21B gene to glomerular and cystic kidney diseases. | 26940125 | 2017 | ||||||
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A | 0.700 | CausalMutation | CLINVAR | A homozygous missense mutation in the ciliary gene TTC21B causes familial FSGS. | 24876116 | 2014 | ||||||
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A | 0.700 | CausalMutation | CLINVAR | A homozygous missense mutation in the ciliary gene TTC21B causes familial FSGS. | 24876116 | 2014 | ||||||
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A | 0.700 | CausalMutation | CLINVAR | A homozygous missense mutation in the ciliary gene TTC21B causes familial FSGS. | 24876116 | 2014 | ||||||
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A | 0.700 | CausalMutation | CLINVAR | TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum. | 21258341 | 2011 | ||||||
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A | 0.700 | CausalMutation | CLINVAR | |||||||||
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A | 0.700 | CausalMutation | CLINVAR | |||||||||
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A | 0.700 | CausalMutation | CLINVAR | |||||||||
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A | 0.700 | GeneticVariation | CLINVAR | |||||||||
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0.700 | GeneticVariation | UNIPROT | ||||||||||
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0.700 | GeneticVariation | UNIPROT | ||||||||||
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G | 0.700 | GeneticVariation | CLINVAR | |||||||||
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TTCTA | 0.700 | CausalMutation | CLINVAR | |||||||||
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T | 0.700 | CausalMutation | CLINVAR | |||||||||
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T | 0.700 | CausalMutation | CLINVAR | |||||||||
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0.020 | GeneticVariation | BEFREE | We identified a novel TTC21B mutation demonstrating that p.P209L is not the unique causative mutation of this nephropathy. | 26940125 | 2017 | |||||||
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0.020 | GeneticVariation | BEFREE | Altogether, these data suggest that this homozygous TTC21B p.P209L mutation leads to a novel hereditary kidney disorder with both glomerular and tubulointerstitial damages. | 24876116 | 2014 | |||||||
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0.010 | GeneticVariation | BEFREE | Our results confirm the causal role of the homozygous p.P209L TTC21B mutation in two new families with FSGS and tubulointerstitial disease. | 26940125 | 2017 |