MYBPC3, myosin binding protein C3, 4607
N. diseases: 100; N. variants: 418
Source: ALL
| Variant | Gene | Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||||
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0.010 | GeneticVariation | BEFREE | DSP_Lys1581Glu and DSC2_p.Thr275Met were classified according to American College of Medical Genetics and Genomics consensus statement guidelines as pathogenic or likely pathogenic for arrhythmogenic cardiomyopathy in three patients (30%). | 31024045 | 2019 | |||||||
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0.010 | GeneticVariation | BEFREE | Association of Cardiomyopathy With MYBPC3 D389V and MYBPC3Δ25bpIntronic Deletion in South Asian Descendants. | 29641836 | 2018 | |||||||
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0.010 | GeneticVariation | BEFREE | In addition, the cardiomyopathy related MYH6-A1004S and the MYBPC3-A833T mutations were also found in one and two unrelated subjects with ASDII, respectively. | 22194935 | 2011 | |||||||
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T | 0.700 | GeneticVariation | CLINVAR | |||||||||
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0.700 | CausalMutation | CLINVAR | ||||||||||
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C | 0.700 | GeneticVariation | CLINVAR | |||||||||
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GA | 0.700 | GeneticVariation | CLINVAR | |||||||||
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TGATA | 0.700 | GeneticVariation | CLINVAR | |||||||||
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A | 0.700 | CausalMutation | CLINVAR | |||||||||
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GC | 0.700 | GeneticVariation | CLINVAR | |||||||||
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TTGCTCACCTGGTAGGCCGGCTCCAGCTTC | 0.700 | GeneticVariation | CLINVAR | |||||||||
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C | 0.700 | GeneticVariation | CLINVAR | |||||||||
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C | 0.700 | CausalMutation | CLINVAR | |||||||||
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T | 0.700 | CausalMutation | CLINVAR | |||||||||
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TG | 0.700 | GeneticVariation | CLINVAR | |||||||||
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G | 0.700 | CausalMutation | CLINVAR | |||||||||
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A | 0.700 | GeneticVariation | CLINVAR | |||||||||
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C | 0.700 | CausalMutation | CLINVAR | |||||||||
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AC | 0.700 | CausalMutation | CLINVAR | |||||||||
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A | 0.700 | CausalMutation | CLINVAR | |||||||||
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G | 0.700 | GeneticVariation | CLINVAR | |||||||||
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T | 0.700 | CausalMutation | CLINVAR | |||||||||
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GT | 0.700 | CausalMutation | CLINVAR | |||||||||
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CA | 0.700 | CausalMutation | CLINVAR | |||||||||
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T | 0.700 | GeneticVariation | CLINVAR |