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DataTable Sample


Variant ID Variant Amino Acid Change ACMG Call Last Call Revised Predicted Call Variant Type Effect Type Times Observed PMID Article Count Clinical Phenotype Variant Strat Position Genomic Coordinate Location
112 c.332_334del p.Val111del Likely Pathogenic 2022-02-02 00:00:00 Small deletion Deletion < 3 34806794 1 332 g.22047194_22047196del Exon 3
137 c.416A>G p.Tyr139Cys Pathogenic 2022-02-02 00:00:00 SNV Missense 3-5 34806794 1 Gait Abnormalities 416 g.22076454A>G Exon 4
112 c.332_334del p.Val111del Likely Pathogenic 2022-02-02 00:00:00 Small deletion Deletion < 3 34806794 1 332 g.22047194_22047196del Exon 3

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