| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
A | 0.700 | CausalMutation | CLINVAR | Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. | 30718709 | 2019 |
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|
C | 0.700 | GeneticVariation | CLINVAR | Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. | 30718709 | 2019 |
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|
A | 0.700 | CausalMutation | CLINVAR | Diverse clinical phenotypes associated with a nonsense mutation in FAM161A. | 26113502 | 2015 |
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|
A | 0.700 | CausalMutation | CLINVAR | The efficacy of microarray screening for autosomal recessive retinitis pigmentosa in routine clinical practice. | 25999674 | 2015 |
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|
A | 0.700 | CausalMutation | CLINVAR | Subsequent ARMS analysis and Sanger sequencing in Dutch and Belgian arRP patients resulted in the identification of seven additional individuals carrying the p.(Arg437*) mutation, either homozygously or compound heterozygously with another mutation. | 26574802 | 2015 |
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|
A | 0.700 | CausalMutation | CLINVAR | Dependable and efficient clinical utility of target capture-based deep sequencing in molecular diagnosis of retinitis pigmentosa. | 25097241 | 2014 |
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|
A | 0.700 | CausalMutation | CLINVAR | Another homozygous FAM161A stop mutation (p.Arg437X) was detected in three subjects from a cohort of 118 apparently unrelated German RP patients. | 20705278 | 2010 |
|||
|
A | 0.700 | GeneticVariation | CLINVAR | ||||||
|
T | 0.700 | GeneticVariation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
C | 0.700 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR |