List of variants in gene reported as likely pathogenic total variants:466 download table as spreadsheetThere is no functional evidence in clinvar for this variation.If you have generated functional data for this variation, please consider submitting that data to clinvar.Germline pathogenic variants (gpvs) in pten are associated with pten hamartoma tumour syndrome (phts) following an autosomal dominant inheritance pattern.(omim 158350).Phts encompasses …
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If a variant has more than one submission, it may be counted in more than one significance column.If this is the case, the total number of variants will be less than the sum of the other cells.Pathogenic germline variants in pten are indicative of pten hamartoma tumor syndrome (phts, mim+601728), an umbrella term used to describe any individual with a germline pathogenic pten …