| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
T | 0.700 | GeneticVariation | CLINVAR | Functional analysis of novel DEAF1 variants identified through clinical exome sequencing expands DEAF1-associated neurodevelopmental disorder (DAND) phenotype. | 28940898 | 2017 |
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|
T | 0.700 | GeneticVariation | CLINVAR | Exome analysis of Smith-Magenis-like syndrome cohort identifies de novo likely pathogenic variants. | 28213671 | 2017 |
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|
A | 0.700 | CausalMutation | CLINVAR | Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformations. | 28288113 | 2017 |
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|
T | 0.700 | CausalMutation | CLINVAR | NAD Deficiency, Congenital Malformations, and Niacin Supplementation. | 28792876 | 2017 |
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|
G | 0.700 | GeneticVariation | CLINVAR | Compound heterozygous alterations in intraflagellar transport protein CLUAP1 in a child with a novel Joubert and oral-facial-digital overlap syndrome. | 28679688 | 2017 |
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|
T | 0.700 | GeneticVariation | CLINVAR | Compound heterozygous alterations in intraflagellar transport protein CLUAP1 in a child with a novel Joubert and oral-facial-digital overlap syndrome. | 28679688 | 2017 |
|||
|
A | 0.700 | GeneticVariation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | GeneticVariation | CLINVAR | ||||||
|
A | 0.700 | GeneticVariation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
G | 0.700 | GeneticVariation | CLINVAR | ||||||
|
T | 0.700 | GeneticVariation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR |