| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
G | 0.700 | GeneticVariation | CLINVAR | ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder. | 30639322 | 2019 |
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|
T | 0.700 | CausalMutation | CLINVAR | Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder. | 29478781 | 2018 |
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|
A | 0.700 | CausalMutation | CLINVAR | De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability. | 29100089 | 2017 |
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|
T | 0.700 | CausalMutation | CLINVAR | Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures. | 27108799 | 2016 |
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|
G | 0.700 | GeneticVariation | CLINVAR | A novel mutation in FBXL4 in a Norwegian child with encephalomyopathic mitochondrial DNA depletion syndrome 13. | 27182039 | 2016 |
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|
C | 0.700 | CausalMutation | CLINVAR | Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures. | 27108799 | 2016 |
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|
G | 0.700 | CausalMutation | CLINVAR | Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures. | 27108799 | 2016 |
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|
CT | 0.700 | CausalMutation | CLINVAR | Dominant mutations in KAT6A cause intellectual disability with recognizable syndromic features. | 25728777 | 2015 |
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|
T | 0.700 | CausalMutation | CLINVAR | Gain-of-function SOS1 mutations cause a distinctive form of Noonan syndrome. | 17143282 | 2007 |
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|
T | 0.700 | CausalMutation | CLINVAR | SOS1 is the second most common Noonan gene but plays no major role in cardio-facio-cutaneous syndrome. | 17586837 | 2007 |
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|
T | 0.700 | CausalMutation | CLINVAR | Germline gain-of-function mutations in SOS1 cause Noonan syndrome. | 17143285 | 2007 |
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|
C | 0.700 | GeneticVariation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
C | 0.700 | GeneticVariation | CLINVAR | ||||||
|
GTTTT | 0.700 | GeneticVariation | CLINVAR | ||||||
|
T | 0.700 | GeneticVariation | CLINVAR | ||||||
|
GC | 0.700 | GeneticVariation | CLINVAR | ||||||
|
T | 0.700 | GeneticVariation | CLINVAR | ||||||
|
C | 0.700 | GeneticVariation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | GeneticVariation | CLINVAR | ||||||
|
A | 0.700 | GeneticVariation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
C | 0.700 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | GeneticVariation | CLINVAR |