| Variant | Gene | Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
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C | 0.700 | CausalMutation | CLINVAR | |||||||||
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G | 0.700 | CausalMutation | CLINVAR | |||||||||
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C | 0.700 | CausalMutation | CLINVAR | |||||||||
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0.010 | GeneticVariation | BEFREE | We report an infant boy with lethal congenital hypomyelinating neuropathy and WS4 who had a heterozygous SOX10 mutation (Q250X). | 12447940 | 2002 | |||||||
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C | 0.700 | CausalMutation | CLINVAR | |||||||||
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C | 0.700 | CausalMutation | CLINVAR | |||||||||
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0.010 | GeneticVariation | BEFREE | The patient with a homozygous G41V mutation had impaired hearing in both ears, whereas the patient with a heterozygous L80V mutation showed subtle hearing impairment in the left ear. | 30914325 | 2019 | |||||||
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C | 0.700 | GeneticVariation | CLINVAR | |||||||||
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0.010 | GeneticVariation | BEFREE | The properties of three mutant human endothelin B receptor (hETB) (G57S, R319W and P383L) in isolated HSCR were analyzed. | 11471546 | 2001 | |||||||
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C | 0.700 | CausalMutation | CLINVAR | |||||||||
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C | 0.700 | CausalMutation | CLINVAR | |||||||||
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G | 0.700 | CausalMutation | CLINVAR | |||||||||
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C | 0.700 | CausalMutation | CLINVAR | |||||||||
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T | 0.700 | CausalMutation | CLINVAR | |||||||||
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C | 0.700 | CausalMutation | CLINVAR | |||||||||
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C | 0.700 | CausalMutation | CLINVAR | |||||||||
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C | 0.700 | CausalMutation | CLINVAR | |||||||||
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0.700 | GeneticVariation | UNIPROT | Identification and functional analysis of SOX10 missense mutations in different subtypes of Waardenburg syndrome. | 21898658 | 2011 | |||||||
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0.700 | GeneticVariation | UNIPROT | Aplasia of cochlear nerves and olfactory bulbs in association with SOX10 mutation. | 19208381 | 2009 | |||||||
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0.700 | GeneticVariation | UNIPROT | Neurological phenotype in Waardenburg syndrome type 4 correlates with novel SOX10 truncating mutations and expression in developing brain. | 10762540 | 2000 | |||||||
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0.700 | GeneticVariation | UNIPROT | Molecular mechanism for distinct neurological phenotypes conveyed by allelic truncating mutations. | 15004559 | 2004 | |||||||
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C | 0.700 | CausalMutation | CLINVAR | |||||||||
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G | 0.700 | CausalMutation | CLINVAR | |||||||||
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G | 0.700 | CausalMutation | CLINVAR | |||||||||
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C | 0.700 | CausalMutation | CLINVAR |