Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
---|---|---|---|---|---|---|---|---|---|---|
|
0.710 | GeneticVariation | BEFREE | A missense mutation in connexin26, D66H, causes mutilating keratoderma with sensorineural deafness (Vohwinkel's syndrome) in three unrelated families. | 10369869 | 1999 |
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|
A | 0.710 | GeneticVariation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR | Phenotypical features of two patients diagnosed with PHARC syndrome and carriers of a new homozygous mutation in the ABHD12 gene. | 29571850 | 2018 |
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|
T | 0.700 | CausalMutation | CLINVAR | NAD Deficiency, Congenital Malformations, and Niacin Supplementation. | 28792876 | 2017 |
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|
T | 0.700 | CausalMutation | CLINVAR | A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders. | 26938784 | 2016 |
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|
T | 0.700 | CausalMutation | CLINVAR | A novel missense variant in PRKCB segregates low-frequency hearing loss in an autosomal dominant family with Meniere's disease. | 27329761 | 2016 |
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|
A | 0.700 | CausalMutation | CLINVAR | Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 Mutations. | 26805781 | 2016 |
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|
A | 0.700 | GeneticVariation | CLINVAR | A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders. | 26938784 | 2016 |
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|
G | 0.700 | CausalMutation | CLINVAR | The expanding spectrum of PRPS1-associated phenotypes: three novel mutations segregating with X-linked hearing loss and mild peripheral neuropathy. | 25182139 | 2015 |
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|
T | 0.700 | CausalMutation | CLINVAR | The expanding spectrum of PRPS1-associated phenotypes: three novel mutations segregating with X-linked hearing loss and mild peripheral neuropathy. | 25182139 | 2015 |
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|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
C | 0.700 | CausalMutation | CLINVAR | ||||||
|
G | 0.700 | GeneticVariation | CLINVAR | ||||||
|
A | 0.700 | GeneticVariation | CLINVAR | ||||||
|
G | 0.700 | GeneticVariation | CLINVAR | ||||||
|
A | 0.700 | GeneticVariation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
C | 0.700 | CausalMutation | CLINVAR | ||||||
|
G | 0.700 | GeneticVariation | CLINVAR | ||||||
|
G | 0.700 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | GeneticVariation | CLINVAR | ||||||
|
A | 0.700 | GeneticVariation | CLINVAR | ||||||
|
C | 0.700 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | GeneticVariation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR |