Knowledge base for genomic medicine in Japanese
PTEN過誤腫症候群
腫瘍性疾患
Excelでダウンロード
表のタイトル行が青色の項目は、クリックすることでソートすることができます。
TypeNameGene SymbolClinical SignificanceChromosomeStartStopReference AlleleAlternate AlleleReview StatusOther IDs
(GRCh37)
short repeatNM_000314.8(PTEN):c.951_954ACTT[1] (p.Leu318_Thr319insTer)PTENPathogenic108972079989720802GTACTGcriteria provided, multiple submitters, no conflicts-
deletionNM_000314.7(PTEN):c.209+4_209+7delPTENPathogenic108968531589685318TGTAATreviewed by expert panelHGMD:CD004540
single nucleotide variantNM_000314.7(PTEN):c.286C>T (p.Pro96Ser)PTENPathogenic108969280289692802CTcriteria provided, single submitter-
single nucleotide variantNM_000314.7(PTEN):c.331T>C (p.Trp111Arg)PTENLikely pathogenic108969284789692847TCreviewed by expert panelHGMD:CM014084
single nucleotide variantNM_000314.7(PTEN):c.395G>A (p.Gly132Asp)PTENLikely pathogenic108969291189692911GAreviewed by expert panelHGMD:CM045431
deletionNM_000314.7(PTEN):c.800del (p.Lys267fs)PTENPathogenic108971777089717770TATcriteria provided, multiple submitters, no conflictsHGMD:CD075526
deletionNM_000314.7(PTEN):c.956_959del (p.Thr319fs)PTENPathogenic108972080589720808ACTTTAcriteria provided, multiple submitters, no conflictsHGMD:CD110186
insertionNM_000314.7(PTEN):c.884_885insTT (p.Cys296fs)PTENPathogenic108972073289720733CCTTcriteria provided, single submitter-
single nucleotide variantNM_000314.7(PTEN):c.379G>A (p.Gly127Arg)PTENLikely pathogenic108969289589692895GAcriteria provided, multiple submitters, no conflicts-
deletionNM_000314.7(PTEN):c.772_773del (p.Phe258fs)PTENPathogenic108971774789717748CTTCcriteria provided, single submitter-