SHANK3, SH3 and multiple ankyrin repeat domains 3, 85358
N. diseases: 169; N. variants: 24
Source: ALL
| Variant | Gene | Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||||
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A | 0.700 | CausalMutation | CLINVAR | |||||||||
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A | 0.700 | CausalMutation | CLINVAR | |||||||||
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T | 0.700 | GeneticVariation | CLINVAR | |||||||||
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T | 0.700 | GeneticVariation | CLINVAR | |||||||||
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0.010 | GeneticVariation | BEFREE | Here, we report the functional effects of two de novo mutations (STOP and Q321R) and two inherited variations (R12C and R300C) identified in patients with ASD. | 21606927 | 2012 | |||||||
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A | 0.700 | CausalMutation | CLINVAR | |||||||||
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TGGCCGTGGGCAGCCCC | 0.700 | CausalMutation | CLINVAR | |||||||||
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C | 0.700 | CausalMutation | CLINVAR | Targeted resequencing of 358 candidate genes for autism spectrum disorder in a Chinese cohort reveals diagnostic potential and genotype-phenotype correlations. | 30763456 | 2019 | ||||||
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C | 0.700 | GeneticVariation | CLINVAR | |||||||||
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GC | 0.700 | CausalMutation | CLINVAR | |||||||||
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GC | 0.700 | CausalMutation | CLINVAR | |||||||||
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GC | 0.700 | CausalMutation | CLINVAR | |||||||||
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GC | 0.700 | CausalMutation | CLINVAR | |||||||||
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GC | 0.700 | CausalMutation | CLINVAR | |||||||||
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T | 0.700 | CausalMutation | CLINVAR | |||||||||
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T | 0.700 | GeneticVariation | CLINVAR | |||||||||
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T | 0.700 | GeneticVariation | CLINVAR | |||||||||
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T | 0.700 | CausalMutation | CLINVAR | |||||||||
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0.010 | GeneticVariation | BEFREE | Here, we report the functional effects of two de novo mutations (STOP and Q321R) and two inherited variations (R12C and R300C) identified in patients with ASD. | 21606927 | 2012 | |||||||
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T | 0.700 | CausalMutation | CLINVAR | |||||||||
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0.800 | GeneticVariation | UNIPROT | De novo mutations in the gene encoding the synaptic scaffolding protein SHANK3 in patients ascertained for schizophrenia. | 20385823 | 2010 | |||||||
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T | 0.800 | CausalMutation | CLINVAR | |||||||||
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0.800 | GeneticVariation | UNIPROT | SHANK3 and IGF1 restore synaptic deficits in neurons from 22q13 deletion syndrome patients. | 24132240 | 2013 | |||||||
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0.800 | GeneticVariation | UNIPROT | Prevalence of SHANK3 variants in patients with different subtypes of autism spectrum disorders. | 22892527 | 2013 | |||||||
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G | 0.800 | CausalMutation | CLINVAR |