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Items: 1 to 20 of 26632

1.

rs555895 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>G [Show Flanks]
    Chromosome:
    10:87961150 (GRCh38)
    10:89720907 (GRCh37)
    Gene:
    PTEN (Varview)
    Functional Consequence:
    intron_variant
    Clinical significance:
    benign
    Validated:
    by frequency,by cluster
    MAF:
    G=0.300893/1348 (Estonian)
    G=0.369914/43897 (ExAC)
    G=0.373306/92706 (GnomAD_exomes)
    G=0.378643/4911 (GoESP)
    G=0.385858/12065 (GnomAD)
    G=0.403333/242 (NorthernSweden)
    G=0.408552/51301 (TOPMED)
    G=0.432508/2166 (1000Genomes)
    HGVS:
    NC_000010.11:g.87961150T>G, NC_000010.10:g.89720907T>G, NG_007466.2:g.102712T>G, NW_013171807.1:g.176939T>G
    2.

    rs701848 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      T>C [Show Flanks]
      Chromosome:
      10:87966988 (GRCh38)
      10:89726745 (GRCh37)
      Gene:
      PTEN (Varview)
      Functional Consequence:
      3_prime_UTR_variant
      Clinical significance:
      benign
      Validated:
      by frequency,by cluster
      MAF:
      C=0.325696/40897 (TOPMED)
      C=0.342589/10068 (GnomAD)
      C=0.373403/1870 (1000Genomes)
      C=0.391855/1453 (TWINSUK)
      C=0.40685/1568 (ALSPAC)
      C=0.416667/250 (NorthernSweden)
      C=0.456638/2043 (Estonian)
      HGVS:
      NC_000010.11:g.87966988T>C, NC_000010.10:g.89726745T>C, NG_007466.2:g.108550T>C, NM_000314.7:c.*1516T>C, NM_000314.6:c.*1516T>C, NM_000314.4:c.*1516T>C, NM_001304717.5:c.*1516T>C, NM_001304717.4:c.*1516T>C, NM_001304717.3:c.*1516T>C, NM_001304717.2:c.*1516T>C, NM_001304718.2:c.*1516T>C, NM_001304718.1:c.*1516T>C, NW_013171807.1:g.182777T>C
      3.

      rs1044322 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A,C [Show Flanks]
        Chromosome:
        10:87863566 (GRCh38)
        10:89623323 (GRCh37)
        Gene:
        PTEN (Varview), KLLN (Varview)
        Functional Consequence:
        upstream_transcript_variant
        Clinical significance:
        uncertain-significance,benign
        Validated:
        by frequency,by cluster
        MAF:
        A=0.00463/1 (Vietnamese)
        A=0.010982/55 (1000Genomes)
        A=0.012097/1519 (TOPMED)
        A=0.016741/75 (Estonian)
        A=0.02/12 (NorthernSweden)
        HGVS:
        NC_000010.11:g.87863566G>A, NC_000010.11:g.87863566G>C, NC_000010.10:g.89623323G>A, NC_000010.10:g.89623323G>C, NG_007466.2:g.5129G>A, NG_007466.2:g.5129G>C, NM_000314.4:c.-903G>A, NM_000314.4:c.-903G>C, NW_013171807.1:g.79390G>A, NW_013171807.1:g.79390G>C, NG_033079.1:g.4872C>T, NG_033079.1:g.4872C>G
        4.

        rs1903858 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          A>G [Show Flanks]
          Chromosome:
          10:87893929 (GRCh38)
          10:89653686 (GRCh37)
          Gene:
          PTEN (Varview)
          Functional Consequence:
          intron_variant
          Clinical significance:
          benign
          Validated:
          by frequency,by cluster
          MAF:
          A=0.490476/103 (Vietnamese)
          G=0.284949/1276 (Estonian)
          G=0.318889/1229 (ALSPAC)
          G=0.326861/1212 (TWINSUK)
          G=0.373432/11430 (GnomAD)
          G=0.385/231 (NorthernSweden)
          G=0.389199/48871 (TOPMED)
          G=0.417931/2093 (1000Genomes)
          HGVS:
          NC_000010.11:g.87893929A>G, NC_000010.10:g.89653686A>G, NG_007466.2:g.35491A>G, NW_013171807.1:g.109752A>G
          5.

          rs2943772 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>C [Show Flanks]
            Chromosome:
            10:87864144 (GRCh38)
            10:89623901 (GRCh37)
            Gene:
            PTEN (Varview), KLLN (Varview)
            Functional Consequence:
            5_prime_UTR_variant,coding_sequence_variant,upstream_transcript_variant,missense_variant
            Clinical significance:
            benign
            Validated:
            by frequency,by cluster
            MAF:
            G=0./0 (1000Genomes)
            G=0./0 (NorthernSweden)
            G=0.00042/13 (GnomAD)
            HGVS:
            NC_000010.11:g.87864144G>C, NC_000010.10:g.89623901G>C, NG_007466.2:g.5706C>G, NM_000314.7:c.-326C>G, NM_000314.6:c.-326C>G, NM_000314.4:c.-326C>G, NM_001304717.5:c.194C>G, NM_001304717.4:c.194C>G, NM_001304717.3:c.194C>G, NM_001304717.2:c.194C>G, NM_001304718.2:c.-1031C>G, NM_001304718.1:c.-1031C>G, NW_013171807.1:g.79967C>G, NG_033079.1:g.4294C>G, NP_001291646.4:p.Ser65Cys
            6.

            rs5786797 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              TTTTTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT [Show Flanks]
              Chromosome:
              10:87966903 (GRCh38)
              10:89726660 (GRCh37)
              Gene:
              PTEN (Varview)
              Functional Consequence:
              3_prime_UTR_variant
              Clinical significance:
              uncertain-significance
              Validated:
              by cluster
              HGVS:
              NC_000010.11:g.87966916_87966931del, NC_000010.11:g.87966917_87966931del, NC_000010.11:g.87966918_87966931del, NC_000010.11:g.87966919_87966931del, NC_000010.11:g.87966920_87966931del, NC_000010.11:g.87966921_87966931del, NC_000010.11:g.87966922_87966931del, NC_000010.11:g.87966923_87966931del, NC_000010.11:g.87966924_87966931del, NC_000010.11:g.87966925_87966931del, NC_000010.11:g.87966926_87966931del, NC_000010.11:g.87966927_87966931del, NC_000010.11:g.87966928_87966931del, NC_000010.11:g.87966929_87966931del, NC_000010.11:g.87966930_87966931del, NC_000010.11:g.87966931del, NC_000010.11:g.87966931dup, NC_000010.11:g.87966930_87966931dup, NC_000010.11:g.87966929_87966931dup, NC_000010.11:g.87966928_87966931dup, NC_000010.10:g.89726673_89726688del, NC_000010.10:g.89726674_89726688del, NC_000010.10:g.89726675_89726688del, NC_000010.10:g.89726676_89726688del, NC_000010.10:g.89726677_89726688del, NC_000010.10:g.89726678_89726688del, NC_000010.10:g.89726679_89726688del, NC_000010.10:g.89726680_89726688del, NC_000010.10:g.89726681_89726688del, NC_000010.10:g.89726682_89726688del, NC_000010.10:g.89726683_89726688del, NC_000010.10:g.89726684_89726688del, NC_000010.10:g.89726685_89726688del, NC_000010.10:g.89726686_89726688del, NC_000010.10:g.89726687_89726688del, NC_000010.10:g.89726688del, NC_000010.10:g.89726688dup, NC_000010.10:g.89726687_89726688dup, NC_000010.10:g.89726686_89726688dup, NC_000010.10:g.89726685_89726688dup, NG_007466.2:g.108478_108493del, NG_007466.2:g.108479_108493del, NG_007466.2:g.108480_108493del, NG_007466.2:g.108481_108493del, NG_007466.2:g.108482_108493del, NG_007466.2:g.108483_108493del, NG_007466.2:g.108484_108493del, NG_007466.2:g.108485_108493del, NG_007466.2:g.108486_108493del, NG_007466.2:g.108487_108493del, NG_007466.2:g.108488_108493del, NG_007466.2:g.108489_108493del, NG_007466.2:g.108490_108493del, NG_007466.2:g.108491_108493del, NG_007466.2:g.108492_108493del, NG_007466.2:g.108493del, NG_007466.2:g.108493dup, NG_007466.2:g.108492_108493dup, NG_007466.2:g.108491_108493dup, NG_007466.2:g.108490_108493dup, NM_000314.7:c.*1444_*1459del, NM_000314.7:c.*1445_*1459del, NM_000314.7:c.*1446_*1459del, NM_000314.7:c.*1447_*1459del, NM_000314.7:c.*1448_*1459del, NM_000314.7:c.*1449_*1459del, NM_000314.7:c.*1450_*1459del, NM_000314.7:c.*1451_*1459del, NM_000314.7:c.*1452_*1459del, NM_000314.7:c.*1453_*1459del, NM_000314.7:c.*1454_*1459del, NM_000314.7:c.*1455_*1459del, NM_000314.7:c.*1456_*1459del, NM_000314.7:c.*1457_*1459del, NM_000314.7:c.*1458_*1459del, NM_000314.7:c.*1459del, NM_000314.7:c.*1459dup, NM_000314.7:c.*1458_*1459dup, NM_000314.7:c.*1457_*1459dup, NM_000314.7:c.*1456_*1459dup, NM_000314.6:c.*1444_*1459del, NM_000314.6:c.*1445_*1459del, NM_000314.6:c.*1446_*1459del, NM_000314.6:c.*1447_*1459del, NM_000314.6:c.*1448_*1459del, NM_000314.6:c.*1449_*1459del, NM_000314.6:c.*1450_*1459del, NM_000314.6:c.*1451_*1459del, NM_000314.6:c.*1452_*1459del, NM_000314.6:c.*1453_*1459del, NM_000314.6:c.*1454_*1459del, NM_000314.6:c.*1455_*1459del, NM_000314.6:c.*1456_*1459del, NM_000314.6:c.*1457_*1459del, NM_000314.6:c.*1458_*1459del, NM_000314.6:c.*1459del, NM_000314.6:c.*1459dup, NM_000314.6:c.*1458_*1459dup, NM_000314.6:c.*1457_*1459dup, NM_000314.6:c.*1456_*1459dup, NM_000314.4:c.*1444_*1459del, NM_000314.4:c.*1445_*1459del, NM_000314.4:c.*1446_*1459del, NM_000314.4:c.*1447_*1459del, NM_000314.4:c.*1448_*1459del, NM_000314.4:c.*1449_*1459del, NM_000314.4:c.*1450_*1459del, NM_000314.4:c.*1451_*1459del, NM_000314.4:c.*1452_*1459del, NM_000314.4:c.*1453_*1459del, NM_000314.4:c.*1454_*1459del, NM_000314.4:c.*1455_*1459del, NM_000314.4:c.*1456_*1459del, NM_000314.4:c.*1457_*1459del, NM_000314.4:c.*1458_*1459del, NM_000314.4:c.*1459del, NM_000314.4:c.*1459dup, NM_000314.4:c.*1458_*1459dup, NM_000314.4:c.*1457_*1459dup, NM_000314.4:c.*1456_*1459dup, NM_001304717.5:c.*1444_*1459del, NM_001304717.5:c.*1445_*1459del, NM_001304717.5:c.*1446_*1459del, NM_001304717.5:c.*1447_*1459del, NM_001304717.5:c.*1448_*1459del, NM_001304717.5:c.*1449_*1459del, NM_001304717.5:c.*1450_*1459del, NM_001304717.5:c.*1451_*1459del, NM_001304717.5:c.*1452_*1459del, NM_001304717.5:c.*1453_*1459del, NM_001304717.5:c.*1454_*1459del, NM_001304717.5:c.*1455_*1459del, NM_001304717.5:c.*1456_*1459del, NM_001304717.5:c.*1457_*1459del, NM_001304717.5:c.*1458_*1459del, NM_001304717.5:c.*1459del, NM_001304717.5:c.*1459dup, NM_001304717.5:c.*1458_*1459dup, NM_001304717.5:c.*1457_*1459dup, NM_001304717.5:c.*1456_*1459dup, NM_001304717.4:c.*1444_*1459del, NM_001304717.4:c.*1445_*1459del, NM_001304717.4:c.*1446_*1459del, NM_001304717.4:c.*1447_*1459del, NM_001304717.4:c.*1448_*1459del, NM_001304717.4:c.*1449_*1459del, NM_001304717.4:c.*1450_*1459del, NM_001304717.4:c.*1451_*1459del, NM_001304717.4:c.*1452_*1459del, NM_001304717.4:c.*1453_*1459del, NM_001304717.4:c.*1454_*1459del, NM_001304717.4:c.*1455_*1459del, NM_001304717.4:c.*1456_*1459del, NM_001304717.4:c.*1457_*1459del, NM_001304717.4:c.*1458_*1459del, NM_001304717.4:c.*1459del, NM_001304717.4:c.*1459dup, NM_001304717.4:c.*1458_*1459dup, NM_001304717.4:c.*1457_*1459dup, NM_001304717.4:c.*1456_*1459dup, NM_001304717.3:c.*1444_*1459del, NM_001304717.3:c.*1445_*1459del, NM_001304717.3:c.*1446_*1459del, NM_001304717.3:c.*1447_*1459del, NM_001304717.3:c.*1448_*1459del, NM_001304717.3:c.*1449_*1459del, NM_001304717.3:c.*1450_*1459del, NM_001304717.3:c.*1451_*1459del, NM_001304717.3:c.*1452_*1459del, NM_001304717.3:c.*1453_*1459del, NM_001304717.3:c.*1454_*1459del, NM_001304717.3:c.*1455_*1459del, NM_001304717.3:c.*1456_*1459del, NM_001304717.3:c.*1457_*1459del, NM_001304717.3:c.*1458_*1459del, NM_001304717.3:c.*1459del, NM_001304717.3:c.*1459dup, NM_001304717.3:c.*1458_*1459dup, NM_001304717.3:c.*1457_*1459dup, NM_001304717.3:c.*1456_*1459dup, NM_001304717.2:c.*1444_*1459del, NM_001304717.2:c.*1445_*1459del, NM_001304717.2:c.*1446_*1459del, NM_001304717.2:c.*1447_*1459del, NM_001304717.2:c.*1448_*1459del, NM_001304717.2:c.*1449_*1459del, NM_001304717.2:c.*1450_*1459del, NM_001304717.2:c.*1451_*1459del, NM_001304717.2:c.*1452_*1459del, NM_001304717.2:c.*1453_*1459del, NM_001304717.2:c.*1454_*1459del, NM_001304717.2:c.*1455_*1459del, NM_001304717.2:c.*1456_*1459del, NM_001304717.2:c.*1457_*1459del, NM_001304717.2:c.*1458_*1459del, NM_001304717.2:c.*1459del, NM_001304717.2:c.*1459dup, NM_001304717.2:c.*1458_*1459dup, NM_001304717.2:c.*1457_*1459dup, NM_001304717.2:c.*1456_*1459dup, NM_001304718.2:c.*1444_*1459del, NM_001304718.2:c.*1445_*1459del, NM_001304718.2:c.*1446_*1459del, NM_001304718.2:c.*1447_*1459del, NM_001304718.2:c.*1448_*1459del, NM_001304718.2:c.*1449_*1459del, NM_001304718.2:c.*1450_*1459del, NM_001304718.2:c.*1451_*1459del, NM_001304718.2:c.*1452_*1459del, NM_001304718.2:c.*1453_*1459del, NM_001304718.2:c.*1454_*1459del, NM_001304718.2:c.*1455_*1459del, NM_001304718.2:c.*1456_*1459del, NM_001304718.2:c.*1457_*1459del, NM_001304718.2:c.*1458_*1459del, NM_001304718.2:c.*1459del, NM_001304718.2:c.*1459dup, NM_001304718.2:c.*1458_*1459dup, NM_001304718.2:c.*1457_*1459dup, NM_001304718.2:c.*1456_*1459dup, NM_001304718.1:c.*1444_*1459del, NM_001304718.1:c.*1445_*1459del, NM_001304718.1:c.*1446_*1459del, NM_001304718.1:c.*1447_*1459del, NM_001304718.1:c.*1448_*1459del, NM_001304718.1:c.*1449_*1459del, NM_001304718.1:c.*1450_*1459del, NM_001304718.1:c.*1451_*1459del, NM_001304718.1:c.*1452_*1459del, NM_001304718.1:c.*1453_*1459del, NM_001304718.1:c.*1454_*1459del, NM_001304718.1:c.*1455_*1459del, NM_001304718.1:c.*1456_*1459del, NM_001304718.1:c.*1457_*1459del, NM_001304718.1:c.*1458_*1459del, NM_001304718.1:c.*1459del, NM_001304718.1:c.*1459dup, NM_001304718.1:c.*1458_*1459dup, NM_001304718.1:c.*1457_*1459dup, NM_001304718.1:c.*1456_*1459dup, NW_013171807.1:g.182705_182720del, NW_013171807.1:g.182706_182720del, NW_013171807.1:g.182707_182720del, NW_013171807.1:g.182708_182720del, NW_013171807.1:g.182709_182720del, NW_013171807.1:g.182710_182720del, NW_013171807.1:g.182711_182720del, NW_013171807.1:g.182712_182720del, NW_013171807.1:g.182713_182720del, NW_013171807.1:g.182714_182720del, NW_013171807.1:g.182715_182720del, NW_013171807.1:g.182716_182720del, NW_013171807.1:g.182717_182720del, NW_013171807.1:g.182718_182720del, NW_013171807.1:g.182719_182720del, NW_013171807.1:g.182720del, NW_013171807.1:g.182720dup, NW_013171807.1:g.182719_182720dup, NW_013171807.1:g.182718_182720dup, NW_013171807.1:g.182717_182720dup
              7.

              rs7896192 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>G [Show Flanks]
                Chromosome:
                10:87939083 (GRCh38)
                10:89698840 (GRCh37)
                Gene:
                PTEN (Varview)
                Functional Consequence:
                intron_variant
                Clinical significance:
                likely-benign
                Validated:
                by frequency,by cluster
                MAF:
                G=0./0 (ALSPAC)
                G=0.00027/1 (TWINSUK)
                G=0.017511/549 (GnomAD)
                G=0.01897/95 (1000Genomes)
                G=0.020045/2517 (TOPMED)
                HGVS:
                NC_000010.11:g.87939083A>G, NC_000010.10:g.89698840A>G, NG_007466.2:g.80645A>G, NW_013171807.1:g.154875A>G
                9.

                rs11202592 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>G [Show Flanks]
                  Chromosome:
                  10:87864461 (GRCh38)
                  10:89624218 (GRCh37)
                  Gene:
                  PTEN (Varview), KLLN (Varview)
                  Functional Consequence:
                  5_prime_UTR_variant,missense_variant,coding_sequence_variant,upstream_transcript_variant
                  Clinical significance:
                  benign
                  Validated:
                  by frequency,by cluster
                  MAF:
                  G=0./0 (TWINSUK)
                  G=0.000154/2 (GoESP)
                  G=0.000223/1 (Estonian)
                  G=0.000259/1 (ALSPAC)
                  G=0.003312/104 (GnomAD)
                  G=0.003624/440 (ExAC)
                  G=0.003821/961 (GnomAD_exomes)
                  G=0.004404/553 (TOPMED)
                  G=0.010982/55 (1000Genomes)
                  G=0.073409/45 (Vietnamese)
                  HGVS:
                  NC_000010.11:g.87864461C>G, NC_000010.10:g.89624218C>G, NG_007466.2:g.6023C>G, NM_000314.7:c.-9C>G, NM_000314.6:c.-9C>G, NM_000314.4:c.-9C>G, NM_001304717.5:c.511C>G, NM_001304717.4:c.511C>G, NM_001304717.3:c.511C>G, NM_001304717.2:c.511C>G, NM_001304718.2:c.-714C>G, NM_001304718.1:c.-714C>G, NW_013171807.1:g.80284C>G, NG_033079.1:g.3977G>C, NP_001291646.4:p.Leu171Val
                  10.

                  rs11202607 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>T [Show Flanks]
                    Chromosome:
                    10:87967657 (GRCh38)
                    10:89727414 (GRCh37)
                    Gene:
                    PTEN (Varview)
                    Functional Consequence:
                    3_prime_UTR_variant
                    Clinical significance:
                    benign
                    Validated:
                    by frequency,by cluster
                    MAF:
                    T=0.063311/244 (ALSPAC)
                    T=0.063646/236 (TWINSUK)
                    T=0.06484/2016 (GnomAD)
                    T=0.068951/8658 (TOPMED)
                    T=0.072991/327 (Estonian)
                    T=0.078874/395 (1000Genomes)
                    T=0.088333/53 (NorthernSweden)
                    T=0.098131/21 (Vietnamese)
                    HGVS:
                    NC_000010.11:g.87967657C>T, NC_000010.10:g.89727414C>T, NG_007466.2:g.109219C>T, NM_000314.7:c.*2185C>T, NM_000314.6:c.*2185C>T, NM_000314.4:c.*2185C>T, NM_001304717.5:c.*2185C>T, NM_001304717.4:c.*2185C>T, NM_001304717.3:c.*2185C>T, NM_001304717.2:c.*2185C>T, NM_001304718.2:c.*2185C>T, NM_001304718.1:c.*2185C>T, NW_013171807.1:g.183446C>T
                    11.

                    rs11591427 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>T [Show Flanks]
                      Chromosome:
                      10:87968293 (GRCh38)
                      10:89728050 (GRCh37)
                      Gene:
                      PTEN (Varview)
                      Functional Consequence:
                      3_prime_UTR_variant
                      Clinical significance:
                      uncertain-significance
                      Validated:
                      by frequency,by cluster
                      MAF:
                      T=0.000199/25 (TOPMED)
                      T=0.000223/7 (GnomAD)
                      T=0.00027/1 (TWINSUK)
                      T=0.000778/3 (ALSPAC)
                      HGVS:
                      NC_000010.11:g.87968293A>T, NC_000010.10:g.89728050A>T, NG_007466.2:g.109855A>T, NM_000314.7:c.*2821A>T, NM_000314.6:c.*2821A>T, NM_000314.4:c.*2821A>T, NM_001304717.5:c.*2821A>T, NM_001304717.4:c.*2821A>T, NM_001304717.3:c.*2821A>T, NM_001304717.2:c.*2821A>T, NM_001304718.2:c.*2821A>T, NM_001304718.1:c.*2821A>T, NW_013171807.1:g.184082A>T
                      13.

                      rs34003473 [Homo sapiens]
                        Variant type:
                        DELINS
                        Alleles:
                        TTTTT>-,TT,TTT,TTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT [Show Flanks]
                        Chromosome:
                        10:87960877 (GRCh38)
                        10:89720634 (GRCh37)
                        Gene:
                        PTEN (Varview)
                        Functional Consequence:
                        intron_variant
                        Clinical significance:
                        benign,likely-benign
                        Validated:
                        by frequency,by cluster
                        MAF:
                        -=0.000008/1 (TOPMED)
                        HGVS:
                        NC_000010.11:g.87960887_87960891del, NC_000010.11:g.87960889_87960891del, NC_000010.11:g.87960890_87960891del, NC_000010.11:g.87960891del, NC_000010.11:g.87960891dup, NC_000010.11:g.87960890_87960891dup, NC_000010.11:g.87960889_87960891dup, NC_000010.11:g.87960888_87960891dup, NC_000010.11:g.87960881_87960891dup, NC_000010.11:g.87960880_87960891dup, NC_000010.10:g.89720644_89720648del, NC_000010.10:g.89720646_89720648del, NC_000010.10:g.89720647_89720648del, NC_000010.10:g.89720648del, NC_000010.10:g.89720648dup, NC_000010.10:g.89720647_89720648dup, NC_000010.10:g.89720646_89720648dup, NC_000010.10:g.89720645_89720648dup, NC_000010.10:g.89720638_89720648dup, NC_000010.10:g.89720637_89720648dup, NG_007466.2:g.102449_102453del, NG_007466.2:g.102451_102453del, NG_007466.2:g.102452_102453del, NG_007466.2:g.102453del, NG_007466.2:g.102453dup, NG_007466.2:g.102452_102453dup, NG_007466.2:g.102451_102453dup, NG_007466.2:g.102450_102453dup, NG_007466.2:g.102443_102453dup, NG_007466.2:g.102442_102453dup, NW_013171807.1:g.176676_176680del, NW_013171807.1:g.176678_176680del, NW_013171807.1:g.176679_176680del, NW_013171807.1:g.176680del, NW_013171807.1:g.176680dup, NW_013171807.1:g.176679_176680dup, NW_013171807.1:g.176678_176680dup, NW_013171807.1:g.176677_176680dup, NW_013171807.1:g.176670_176680dup, NW_013171807.1:g.176669_176680dup
                        15.

                        rs34149102 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>A,T [Show Flanks]
                          Chromosome:
                          10:87863443 (GRCh38)
                          10:89623200 (GRCh37)
                          Gene:
                          PTEN (Varview), KLLN (Varview)
                          Functional Consequence:
                          upstream_transcript_variant
                          Clinical significance:
                          benign-likely-benign,likely-benign
                          Validated:
                          by frequency,by cluster
                          MAF:
                          A=0.001398/7 (1000Genomes)
                          A=0.003333/2 (NorthernSweden)
                          A=0.004241/19 (Estonian)
                          A=0.005617/176 (GnomAD)
                          A=0.005933/22 (TWINSUK)
                          A=0.007056/886 (TOPMED)
                          A=0.007525/29 (ALSPAC)
                          HGVS:
                          NC_000010.11:g.87863443C>A, NC_000010.11:g.87863443C>T, NC_000010.10:g.89623200C>A, NC_000010.10:g.89623200C>T, NG_007466.2:g.5006C>A, NG_007466.2:g.5006C>T, NM_000314.4:c.-1026C>A, NM_000314.4:c.-1026C>T, NW_013171807.1:g.79267C>A, NW_013171807.1:g.79267C>T, NG_033079.1:g.4995G>T, NG_033079.1:g.4995G>A
                          16.

                          rs34248932 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>C [Show Flanks]
                            Chromosome:
                            10:87875205 (GRCh38)
                            10:89634962 (GRCh37)
                            Gene:
                            PTEN (Varview), LOC107987150 (Varview)
                            Functional Consequence:
                            intron_variant,non_coding_transcript_variant
                            Clinical significance:
                            likely-benign
                            Validated:
                            by frequency,by cluster
                            MAF:
                            C=0.001557/6 (ALSPAC)
                            C=0.001667/1 (NorthernSweden)
                            C=0.002157/8 (TWINSUK)
                            C=0.00233/73 (GnomAD)
                            C=0.003034/381 (TOPMED)
                            C=0.004792/24 (1000Genomes)
                            HGVS:
                            NC_000010.11:g.87875205T>C, NC_000010.10:g.89634962T>C, NG_007466.2:g.16767T>C, NW_013171807.1:g.91029T>C, XR_001747529.1:n.1983T>C
                            17.

                            rs34370865 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>G,T [Show Flanks]
                              Chromosome:
                              10:87864984 (GRCh38)
                              10:89624741 (GRCh37)
                              Gene:
                              PTEN (Varview), KLLN (Varview)
                              Functional Consequence:
                              intron_variant,upstream_transcript_variant
                              Clinical significance:
                              likely-benign
                              Validated:
                              by frequency,by cluster
                              MAF:
                              T=0./0 (TWINSUK)
                              T=0.000259/1 (ALSPAC)
                              T=0.013554/1702 (TOPMED)
                              T=0.013852/435 (GnomAD)
                              T=0.015775/79 (1000Genomes)
                              T=0.02244/1766 (PAGE_STUDY)
                              HGVS:
                              NC_000010.11:g.87864984C>G, NC_000010.11:g.87864984C>T, NC_000010.10:g.89624741C>G, NC_000010.10:g.89624741C>T, NG_007466.2:g.6546C>G, NG_007466.2:g.6546C>T, NW_013171807.1:g.80807C>G, NW_013171807.1:g.80807C>T, NG_033079.1:g.3454G>C, NG_033079.1:g.3454G>A
                              18.

                              rs34382179 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>C [Show Flanks]
                                Chromosome:
                                10:87926326 (GRCh38)
                                10:89686083 (GRCh37)
                                Gene:
                                PTEN (Varview)
                                Functional Consequence:
                                intron_variant
                                Clinical significance:
                                likely-benign
                                Validated:
                                by frequency,by cluster
                                MAF:
                                C=0./0 (ALSPAC)
                                C=0.00027/1 (TWINSUK)
                                C=0.00639/32 (1000Genomes)
                                C=0.007331/230 (GnomAD)
                                C=0.007558/949 (TOPMED)
                                HGVS:
                                NC_000010.11:g.87926326T>C, NC_000010.10:g.89686083T>C, NG_007466.2:g.67888T>C, NW_013171807.1:g.142118T>C
                                19.

                                rs34413673 [Homo sapiens]
                                  Variant type:
                                  DELINS
                                  Alleles:
                                  GGCGGCGGC>-,GGC,GGCGGC,GGCGGCGGCGGC [Show Flanks]
                                  Chromosome:
                                  10:87863922 (GRCh38)
                                  10:89623679 (GRCh37)
                                  Gene:
                                  PTEN (Varview), KLLN (Varview)
                                  Functional Consequence:
                                  5_prime_UTR_variant,upstream_transcript_variant
                                  Clinical significance:
                                  conflicting-interpretations-of-pathogenicity
                                  Validated:
                                  by frequency,by cluster
                                  MAF:
                                  -=0.000048/6 (TOPMED)
                                  GCG=0.008187/41 (1000Genomes)
                                  GCG=0.016071/72 (Estonian)
                                  GCG=0.018333/11 (NorthernSweden)
                                  HGVS:
                                  NC_000010.11:g.87863924_87863926GGC[2], NC_000010.11:g.87863924_87863926GGC[3], NC_000010.11:g.87863924_87863926GGC[4], NC_000010.11:g.87863924_87863926GGC[6], NC_000010.10:g.89623681_89623683GGC[2], NC_000010.10:g.89623681_89623683GGC[3], NC_000010.10:g.89623681_89623683GGC[4], NC_000010.10:g.89623681_89623683GGC[6], NG_007466.2:g.5487_5489GGC[2], NG_007466.2:g.5487_5489GGC[3], NG_007466.2:g.5487_5489GGC[4], NG_007466.2:g.5487_5489GGC[6], NM_000314.7:c.-545_-543GGC[2], NM_000314.7:c.-545_-543GGC[3], NM_000314.7:c.-545_-543GGC[4], NM_000314.7:c.-545_-543GGC[6], NM_000314.6:c.-545_-543GGC[2], NM_000314.6:c.-545_-543GGC[3], NM_000314.6:c.-545_-543GGC[4], NM_000314.6:c.-545_-543GGC[6], NM_000314.4:c.-545_-543GGC[2], NM_000314.4:c.-545_-543GGC[3], NM_000314.4:c.-545_-543GGC[4], NM_000314.4:c.-545_-543GGC[6], NM_001304717.5:c.-26_-24GGC[2], NM_001304717.5:c.-26_-24GGC[3], NM_001304717.5:c.-26_-24GGC[4], NM_001304717.5:c.-26_-24GGC[6], NM_001304717.4:c.-26_-24GGC[2], NM_001304717.4:c.-26_-24GGC[3], NM_001304717.4:c.-26_-24GGC[4], NM_001304717.4:c.-26_-24GGC[6], NM_001304717.3:c.-26_-24GGC[2], NM_001304717.3:c.-26_-24GGC[3], NM_001304717.3:c.-26_-24GGC[4], NM_001304717.3:c.-26_-24GGC[6], NM_001304717.2:c.-26_-24GGC[2], NM_001304717.2:c.-26_-24GGC[3], NM_001304717.2:c.-26_-24GGC[4], NM_001304717.2:c.-26_-24GGC[6], NM_001304718.2:c.-1250_-1248GGC[2], NM_001304718.2:c.-1250_-1248GGC[3], NM_001304718.2:c.-1250_-1248GGC[4], NM_001304718.2:c.-1250_-1248GGC[6], NM_001304718.1:c.-1250_-1248GGC[2], NM_001304718.1:c.-1250_-1248GGC[3], NM_001304718.1:c.-1250_-1248GGC[4], NM_001304718.1:c.-1250_-1248GGC[6], NW_013171807.1:g.79748_79750GGC[2], NW_013171807.1:g.79748_79750GGC[3], NW_013171807.1:g.79748_79750GGC[4], NW_013171807.1:g.79748_79750GGC[6], NG_033079.1:g.4502_4504CGC[2], NG_033079.1:g.4502_4504CGC[3], NG_033079.1:g.4502_4504CGC[4], NG_033079.1:g.4502_4504CGC[6]
                                  20.

                                  rs34513359 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>C [Show Flanks]
                                    Chromosome:
                                    10:87957157 (GRCh38)
                                    10:89716914 (GRCh37)
                                    Gene:
                                    PTEN (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Clinical significance:
                                    likely-benign
                                    Validated:
                                    by frequency,by cluster
                                    MAF:
                                    C=0.002196/11 (1000Genomes)
                                    C=0.002455/11 (Estonian)
                                    C=0.003333/2 (NorthernSweden)
                                    C=0.006522/819 (TOPMED)
                                    C=0.006793/213 (GnomAD)
                                    C=0.007012/26 (TWINSUK)
                                    C=0.010638/41 (ALSPAC)
                                    HGVS:
                                    NC_000010.11:g.87957157G>C, NC_000010.10:g.89716914G>C, NG_007466.2:g.98719G>C, NW_013171807.1:g.172946G>C

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