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Items: 1 to 20 of 417

1.

rs1490262067 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>A,T [Show Flanks]
    Chromosome:
    17:17221522 (GRCh38)
    17:17124836 (GRCh37)
    Canonical SPDI:
    NC_000017.11:17221521:G:A,NC_000017.11:17221521:G:T
    Gene:
    FLCN (Varview)
    Functional Consequence:
    synonymous_variant,coding_sequence_variant,missense_variant,intron_variant
    Validated:
    by frequency,by cluster
    MAF:
    T=0.000004/1 (GnomAD_exomes)
    HGVS:

    2.

    rs1490236729 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>A,C [Show Flanks]
      Chromosome:
      17:17224136 (GRCh38)
      17:17127450 (GRCh37)
      Canonical SPDI:
      NC_000017.11:17224135:G:A,NC_000017.11:17224135:G:C
      Gene:
      FLCN (Varview)
      Functional Consequence:
      coding_sequence_variant,missense_variant,intron_variant
      Clinical significance:
      uncertain-significance
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      C=0./0 (ALFA)
      C=0.000004/1 (TOPMED)
      HGVS:
      NC_000017.11:g.17224136G>A, NC_000017.11:g.17224136G>C, NC_000017.10:g.17127450G>A, NC_000017.10:g.17127450G>C, NG_008001.2:g.18053C>T, NG_008001.2:g.18053C>G, NM_144997.7:c.404C>T, NM_144997.7:c.404C>G, NM_144997.6:c.404C>T, NM_144997.6:c.404C>G, NM_144997.5:c.404C>T, NM_144997.5:c.404C>G, NM_144606.7:c.404C>T, NM_144606.7:c.404C>G, NM_144606.6:c.404C>T, NM_144606.6:c.404C>G, NM_144606.5:c.404C>T, NM_144606.5:c.404C>G, NM_001353230.2:c.404C>T, NM_001353230.2:c.404C>G, NM_001353230.1:c.404C>T, NM_001353230.1:c.404C>G, NM_001353229.2:c.458C>T, NM_001353229.2:c.458C>G, NM_001353229.1:c.458C>T, NM_001353229.1:c.458C>G, NM_001353231.2:c.404C>T, NM_001353231.2:c.404C>G, NM_001353231.1:c.404C>T, NM_001353231.1:c.404C>G, XM_011523714.4:c.458C>T, XM_011523714.4:c.458C>G, XM_011523714.3:c.458C>T, XM_011523714.3:c.458C>G, XM_011523714.2:c.458C>T, XM_011523714.2:c.458C>G, XM_011523714.1:c.458C>T, XM_011523714.1:c.458C>G, XM_011523718.4:c.458C>T, XM_011523718.4:c.458C>G, XM_011523718.3:c.458C>T, XM_011523718.3:c.458C>G, XM_011523718.2:c.458C>T, XM_011523718.2:c.458C>G, XM_011523718.1:c.458C>T, XM_011523718.1:c.458C>G, XM_011523721.4:c.458C>T, XM_011523721.4:c.458C>G, XM_011523721.3:c.458C>T, XM_011523721.3:c.458C>G, XM_011523721.2:c.458C>T, XM_011523721.2:c.458C>G, XM_011523721.1:c.458C>T, XM_011523721.1:c.458C>G, XM_017024305.3:c.458C>T, XM_017024305.3:c.458C>G, XM_017024305.2:c.458C>T, XM_017024305.2:c.458C>G, XM_017024305.1:c.458C>T, XM_017024305.1:c.458C>G, XM_017024308.2:c.404C>T, XM_017024308.2:c.404C>G, XM_017024308.1:c.404C>T, XM_017024308.1:c.404C>G, XM_047435532.1:c.458C>T, XM_047435532.1:c.458C>G, XM_047435537.1:c.404C>T, XM_047435537.1:c.404C>G, XM_047435533.1:c.458C>T, XM_047435533.1:c.458C>G, XM_047435534.1:c.458C>T, XM_047435534.1:c.458C>G, XM_047435535.1:c.404C>T, XM_047435535.1:c.404C>G, XM_047435531.1:c.458C>T, XM_047435531.1:c.458C>G, XM_047435542.1:c.458C>T, XM_047435542.1:c.458C>G, XM_047435536.1:c.404C>T, XM_047435536.1:c.404C>G, XM_047435539.1:c.458C>T, XM_047435539.1:c.458C>G, XM_047435538.1:c.404C>T, XM_047435538.1:c.404C>G, NP_659434.2:p.Pro135Leu, NP_659434.2:p.Pro135Arg, NP_653207.1:p.Pro135Leu, NP_653207.1:p.Pro135Arg, NP_001340159.1:p.Pro135Leu, NP_001340159.1:p.Pro135Arg, NP_001340158.1:p.Pro153Leu, NP_001340158.1:p.Pro153Arg, NP_001340160.1:p.Pro135Leu, NP_001340160.1:p.Pro135Arg, XP_011522016.1:p.Pro153Leu, XP_011522016.1:p.Pro153Arg, XP_011522020.1:p.Pro153Leu, XP_011522020.1:p.Pro153Arg, XP_011522023.1:p.Pro153Leu, XP_011522023.1:p.Pro153Arg, XP_016879794.1:p.Pro153Leu, XP_016879794.1:p.Pro153Arg, XP_016879797.1:p.Pro135Leu, XP_016879797.1:p.Pro135Arg, XP_047291488.1:p.Pro153Leu, XP_047291488.1:p.Pro153Arg, XP_047291493.1:p.Pro135Leu, XP_047291493.1:p.Pro135Arg, XP_047291489.1:p.Pro153Leu, XP_047291489.1:p.Pro153Arg, XP_047291490.1:p.Pro153Leu, XP_047291490.1:p.Pro153Arg, XP_047291491.1:p.Pro135Leu, XP_047291491.1:p.Pro135Arg, XP_047291487.1:p.Pro153Leu, XP_047291487.1:p.Pro153Arg, XP_047291498.1:p.Pro153Leu, XP_047291498.1:p.Pro153Arg, XP_047291492.1:p.Pro135Leu, XP_047291492.1:p.Pro135Arg, XP_047291495.1:p.Pro153Leu, XP_047291495.1:p.Pro153Arg, XP_047291494.1:p.Pro135Leu, XP_047291494.1:p.Pro135Arg

      3.

      rs1483962771 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>G,T [Show Flanks]
        Chromosome:
        17:17221619 (GRCh38)
        17:17124933 (GRCh37)
        Canonical SPDI:
        NC_000017.11:17221618:C:G,NC_000017.11:17221618:C:T
        Gene:
        FLCN (Varview)
        Functional Consequence:
        synonymous_variant,coding_sequence_variant,missense_variant
        Clinical significance:
        uncertain-significance,likely-benign
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        T=0./0 (ALFA)
        T=0.000004/1 (TOPMED)
        T=0.000007/1 (GnomAD)
        HGVS:
        NC_000017.11:g.17221619C>G, NC_000017.11:g.17221619C>T, NC_000017.10:g.17124933C>G, NC_000017.10:g.17124933C>T, NG_008001.2:g.20570G>C, NG_008001.2:g.20570G>A, NM_144997.7:c.789G>C, NM_144997.7:c.789G>A, NM_144997.6:c.789G>C, NM_144997.6:c.789G>A, NM_144997.5:c.789G>C, NM_144997.5:c.789G>A, NM_144606.7:c.789G>C, NM_144606.7:c.789G>A, NM_144606.6:c.789G>C, NM_144606.6:c.789G>A, NM_144606.5:c.789G>C, NM_144606.5:c.789G>A, NM_001353230.2:c.789G>C, NM_001353230.2:c.789G>A, NM_001353230.1:c.789G>C, NM_001353230.1:c.789G>A, NM_001353229.2:c.843G>C, NM_001353229.2:c.843G>A, NM_001353229.1:c.843G>C, NM_001353229.1:c.843G>A, NM_001353231.2:c.789G>C, NM_001353231.2:c.789G>A, NM_001353231.1:c.789G>C, NM_001353231.1:c.789G>A, XM_011523714.4:c.843G>C, XM_011523714.4:c.843G>A, XM_011523714.3:c.843G>C, XM_011523714.3:c.843G>A, XM_011523714.2:c.843G>C, XM_011523714.2:c.843G>A, XM_011523714.1:c.843G>C, XM_011523714.1:c.843G>A, XM_011523718.4:c.843G>C, XM_011523718.4:c.843G>A, XM_011523718.3:c.843G>C, XM_011523718.3:c.843G>A, XM_011523718.2:c.843G>C, XM_011523718.2:c.843G>A, XM_011523718.1:c.843G>C, XM_011523718.1:c.843G>A, XM_011523721.4:c.843G>C, XM_011523721.4:c.843G>A, XM_011523721.3:c.843G>C, XM_011523721.3:c.843G>A, XM_011523721.2:c.843G>C, XM_011523721.2:c.843G>A, XM_011523721.1:c.843G>C, XM_011523721.1:c.843G>A, XM_017024305.3:c.843G>C, XM_017024305.3:c.843G>A, XM_017024305.2:c.843G>C, XM_017024305.2:c.843G>A, XM_017024305.1:c.843G>C, XM_017024305.1:c.843G>A, XM_017024309.3:c.567G>C, XM_017024309.3:c.567G>A, XM_017024309.2:c.567G>C, XM_017024309.2:c.567G>A, XM_017024309.1:c.567G>C, XM_017024309.1:c.567G>A, XM_017024308.2:c.789G>C, XM_017024308.2:c.789G>A, XM_017024308.1:c.789G>C, XM_017024308.1:c.789G>A, XM_047435532.1:c.843G>C, XM_047435532.1:c.843G>A, XM_047435537.1:c.789G>C, XM_047435537.1:c.789G>A, XM_047435533.1:c.843G>C, XM_047435533.1:c.843G>A, XM_047435534.1:c.843G>C, XM_047435534.1:c.843G>A, XM_047435535.1:c.789G>C, XM_047435535.1:c.789G>A, XM_047435540.1:c.567G>C, XM_047435540.1:c.567G>A, XM_047435531.1:c.843G>C, XM_047435531.1:c.843G>A, XM_047435542.1:c.843G>C, XM_047435542.1:c.843G>A, XM_047435536.1:c.789G>C, XM_047435536.1:c.789G>A, XM_047435539.1:c.843G>C, XM_047435539.1:c.843G>A, XM_047435538.1:c.789G>C, XM_047435538.1:c.789G>A, XM_047435541.1:c.567G>C, XM_047435541.1:c.567G>A, NP_659434.2:p.Lys263Asn, NP_653207.1:p.Lys263Asn, NP_001340159.1:p.Lys263Asn, NP_001340158.1:p.Lys281Asn, NP_001340160.1:p.Lys263Asn, XP_011522016.1:p.Lys281Asn, XP_011522020.1:p.Lys281Asn, XP_011522023.1:p.Lys281Asn, XP_016879794.1:p.Lys281Asn, XP_016879798.1:p.Lys189Asn, XP_016879797.1:p.Lys263Asn, XP_047291488.1:p.Lys281Asn, XP_047291493.1:p.Lys263Asn, XP_047291489.1:p.Lys281Asn, XP_047291490.1:p.Lys281Asn, XP_047291491.1:p.Lys263Asn, XP_047291496.1:p.Lys189Asn, XP_047291487.1:p.Lys281Asn, XP_047291498.1:p.Lys281Asn, XP_047291492.1:p.Lys263Asn, XP_047291495.1:p.Lys281Asn, XP_047291494.1:p.Lys263Asn, XP_047291497.1:p.Lys189Asn

        4.

        rs1483917461 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>A [Show Flanks]
          Chromosome:
          17:17228026 (GRCh38)
          17:17131340 (GRCh37)
          Canonical SPDI:
          NC_000017.11:17228025:T:A
          Gene:
          FLCN (Varview)
          Functional Consequence:
          coding_sequence_variant,missense_variant
          Validated:
          by frequency,by alfa
          MAF:
          A=0./0 (ALFA)
          HGVS:
          NC_000017.11:g.17228026T>A, NC_000017.10:g.17131340T>A, NG_008001.2:g.14163A>T, NM_144997.7:c.112A>T, NM_144997.6:c.112A>T, NM_144997.5:c.112A>T, NM_144606.7:c.112A>T, NM_144606.6:c.112A>T, NM_144606.5:c.112A>T, NM_001353230.2:c.112A>T, NM_001353230.1:c.112A>T, NM_001353229.2:c.112A>T, NM_001353229.1:c.112A>T, NM_001353231.2:c.112A>T, NM_001353231.1:c.112A>T, XM_011523714.4:c.112A>T, XM_011523714.3:c.112A>T, XM_011523714.2:c.112A>T, XM_011523714.1:c.112A>T, XM_011523718.4:c.112A>T, XM_011523718.3:c.112A>T, XM_011523718.2:c.112A>T, XM_011523718.1:c.112A>T, XM_011523721.4:c.112A>T, XM_011523721.3:c.112A>T, XM_011523721.2:c.112A>T, XM_011523721.1:c.112A>T, XM_017024305.3:c.112A>T, XM_017024305.2:c.112A>T, XM_017024305.1:c.112A>T, XM_017024309.3:c.112A>T, XM_017024309.2:c.112A>T, XM_017024309.1:c.112A>T, XM_017024308.2:c.112A>T, XM_017024308.1:c.112A>T, XM_047435532.1:c.112A>T, XM_047435537.1:c.112A>T, XM_047435533.1:c.112A>T, XM_047435534.1:c.112A>T, XM_047435535.1:c.112A>T, XM_047435540.1:c.112A>T, XM_047435531.1:c.112A>T, XM_047435542.1:c.112A>T, XM_047435536.1:c.112A>T, XM_047435539.1:c.112A>T, XM_047435538.1:c.112A>T, XM_047435541.1:c.112A>T, NP_659434.2:p.Ser38Cys, NP_653207.1:p.Ser38Cys, NP_001340159.1:p.Ser38Cys, NP_001340158.1:p.Ser38Cys, NP_001340160.1:p.Ser38Cys, XP_011522016.1:p.Ser38Cys, XP_011522020.1:p.Ser38Cys, XP_011522023.1:p.Ser38Cys, XP_016879794.1:p.Ser38Cys, XP_016879798.1:p.Ser38Cys, XP_016879797.1:p.Ser38Cys, XP_047291488.1:p.Ser38Cys, XP_047291493.1:p.Ser38Cys, XP_047291489.1:p.Ser38Cys, XP_047291490.1:p.Ser38Cys, XP_047291491.1:p.Ser38Cys, XP_047291496.1:p.Ser38Cys, XP_047291487.1:p.Ser38Cys, XP_047291498.1:p.Ser38Cys, XP_047291492.1:p.Ser38Cys, XP_047291495.1:p.Ser38Cys, XP_047291494.1:p.Ser38Cys, XP_047291497.1:p.Ser38Cys

          5.

          rs1483853386 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>C [Show Flanks]
            Chromosome:
            17:17222580 (GRCh38)
            17:17125894 (GRCh37)
            Canonical SPDI:
            NC_000017.11:17222579:T:C
            Gene:
            FLCN (Varview)
            Functional Consequence:
            coding_sequence_variant,missense_variant
            Validated:
            by frequency
            MAF:
            C=0.000004/1 (GnomAD_exomes)
            HGVS:
            NC_000017.11:g.17222580T>C, NC_000017.10:g.17125894T>C, NG_008001.2:g.19609A>G, NM_144997.7:c.700A>G, NM_144997.6:c.700A>G, NM_144997.5:c.700A>G, NM_144606.7:c.700A>G, NM_144606.6:c.700A>G, NM_144606.5:c.700A>G, NM_001353230.2:c.700A>G, NM_001353230.1:c.700A>G, NM_001353229.2:c.754A>G, NM_001353229.1:c.754A>G, NM_001353231.2:c.700A>G, NM_001353231.1:c.700A>G, XM_011523714.4:c.754A>G, XM_011523714.3:c.754A>G, XM_011523714.2:c.754A>G, XM_011523714.1:c.754A>G, XM_011523718.4:c.754A>G, XM_011523718.3:c.754A>G, XM_011523718.2:c.754A>G, XM_011523718.1:c.754A>G, XM_011523721.4:c.754A>G, XM_011523721.3:c.754A>G, XM_011523721.2:c.754A>G, XM_011523721.1:c.754A>G, XM_017024305.3:c.754A>G, XM_017024305.2:c.754A>G, XM_017024305.1:c.754A>G, XM_017024309.3:c.478A>G, XM_017024309.2:c.478A>G, XM_017024309.1:c.478A>G, XM_017024308.2:c.700A>G, XM_017024308.1:c.700A>G, XM_047435532.1:c.754A>G, XM_047435537.1:c.700A>G, XM_047435533.1:c.754A>G, XM_047435534.1:c.754A>G, XM_047435535.1:c.700A>G, XM_047435540.1:c.478A>G, XM_047435531.1:c.754A>G, XM_047435542.1:c.754A>G, XM_047435536.1:c.700A>G, XM_047435539.1:c.754A>G, XM_047435538.1:c.700A>G, XM_047435541.1:c.478A>G, NP_659434.2:p.Asn234Asp, NP_653207.1:p.Asn234Asp, NP_001340159.1:p.Asn234Asp, NP_001340158.1:p.Asn252Asp, NP_001340160.1:p.Asn234Asp, XP_011522016.1:p.Asn252Asp, XP_011522020.1:p.Asn252Asp, XP_011522023.1:p.Asn252Asp, XP_016879794.1:p.Asn252Asp, XP_016879798.1:p.Asn160Asp, XP_016879797.1:p.Asn234Asp, XP_047291488.1:p.Asn252Asp, XP_047291493.1:p.Asn234Asp, XP_047291489.1:p.Asn252Asp, XP_047291490.1:p.Asn252Asp, XP_047291491.1:p.Asn234Asp, XP_047291496.1:p.Asn160Asp, XP_047291487.1:p.Asn252Asp, XP_047291498.1:p.Asn252Asp, XP_047291492.1:p.Asn234Asp, XP_047291495.1:p.Asn252Asp, XP_047291494.1:p.Asn234Asp, XP_047291497.1:p.Asn160Asp

            6.

            rs1483801729 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>T [Show Flanks]
              Chromosome:
              17:17226196 (GRCh38)
              17:17129510 (GRCh37)
              Canonical SPDI:
              NC_000017.11:17226195:C:T
              Gene:
              FLCN (Varview)
              Functional Consequence:
              coding_sequence_variant,missense_variant
              Validated:
              by frequency
              MAF:
              T=0.000004/1 (GnomAD_exomes)
              HGVS:
              NC_000017.11:g.17226196C>T, NC_000017.10:g.17129510C>T, NG_008001.2:g.15993G>A, NM_144997.7:c.376G>A, NM_144997.6:c.376G>A, NM_144997.5:c.376G>A, NM_144606.7:c.376G>A, NM_144606.6:c.376G>A, NM_144606.5:c.376G>A, NM_001353230.2:c.376G>A, NM_001353230.1:c.376G>A, NM_001353229.2:c.376G>A, NM_001353229.1:c.376G>A, NM_001353231.2:c.376G>A, NM_001353231.1:c.376G>A, XM_011523714.4:c.376G>A, XM_011523714.3:c.376G>A, XM_011523714.2:c.376G>A, XM_011523714.1:c.376G>A, XM_011523718.4:c.376G>A, XM_011523718.3:c.376G>A, XM_011523718.2:c.376G>A, XM_011523718.1:c.376G>A, XM_011523721.4:c.376G>A, XM_011523721.3:c.376G>A, XM_011523721.2:c.376G>A, XM_011523721.1:c.376G>A, XM_017024305.3:c.376G>A, XM_017024305.2:c.376G>A, XM_017024305.1:c.376G>A, XM_017024309.3:c.376G>A, XM_017024309.2:c.376G>A, XM_017024309.1:c.376G>A, XM_017024308.2:c.376G>A, XM_017024308.1:c.376G>A, XM_047435532.1:c.376G>A, XM_047435537.1:c.376G>A, XM_047435533.1:c.376G>A, XM_047435534.1:c.376G>A, XM_047435535.1:c.376G>A, XM_047435540.1:c.376G>A, XM_047435531.1:c.376G>A, XM_047435542.1:c.376G>A, XM_047435536.1:c.376G>A, XM_047435539.1:c.376G>A, XM_047435538.1:c.376G>A, XM_047435541.1:c.376G>A, NP_659434.2:p.Val126Ile, NP_653207.1:p.Val126Ile, NP_001340159.1:p.Val126Ile, NP_001340158.1:p.Val126Ile, NP_001340160.1:p.Val126Ile, XP_011522016.1:p.Val126Ile, XP_011522020.1:p.Val126Ile, XP_011522023.1:p.Val126Ile, XP_016879794.1:p.Val126Ile, XP_016879798.1:p.Val126Ile, XP_016879797.1:p.Val126Ile, XP_047291488.1:p.Val126Ile, XP_047291493.1:p.Val126Ile, XP_047291489.1:p.Val126Ile, XP_047291490.1:p.Val126Ile, XP_047291491.1:p.Val126Ile, XP_047291496.1:p.Val126Ile, XP_047291487.1:p.Val126Ile, XP_047291498.1:p.Val126Ile, XP_047291492.1:p.Val126Ile, XP_047291495.1:p.Val126Ile, XP_047291494.1:p.Val126Ile, XP_047291497.1:p.Val126Ile

              7.

              rs1483740746 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>C,T [Show Flanks]
                Chromosome:
                17:17224137 (GRCh38)
                17:17127451 (GRCh37)
                Canonical SPDI:
                NC_000017.11:17224136:G:C,NC_000017.11:17224136:G:T
                Gene:
                FLCN (Varview)
                Functional Consequence:
                coding_sequence_variant,missense_variant,intron_variant
                Clinical significance:
                uncertain-significance
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                T=0./0 (ALFA)
                T=0.000007/1 (GnomAD)
                HGVS:
                NC_000017.11:g.17224137G>C, NC_000017.11:g.17224137G>T, NC_000017.10:g.17127451G>C, NC_000017.10:g.17127451G>T, NG_008001.2:g.18052C>G, NG_008001.2:g.18052C>A, NM_144997.7:c.403C>G, NM_144997.7:c.403C>A, NM_144997.6:c.403C>G, NM_144997.6:c.403C>A, NM_144997.5:c.403C>G, NM_144997.5:c.403C>A, NM_144606.7:c.403C>G, NM_144606.7:c.403C>A, NM_144606.6:c.403C>G, NM_144606.6:c.403C>A, NM_144606.5:c.403C>G, NM_144606.5:c.403C>A, NM_001353230.2:c.403C>G, NM_001353230.2:c.403C>A, NM_001353230.1:c.403C>G, NM_001353230.1:c.403C>A, NM_001353229.2:c.457C>G, NM_001353229.2:c.457C>A, NM_001353229.1:c.457C>G, NM_001353229.1:c.457C>A, NM_001353231.2:c.403C>G, NM_001353231.2:c.403C>A, NM_001353231.1:c.403C>G, NM_001353231.1:c.403C>A, XM_011523714.4:c.457C>G, XM_011523714.4:c.457C>A, XM_011523714.3:c.457C>G, XM_011523714.3:c.457C>A, XM_011523714.2:c.457C>G, XM_011523714.2:c.457C>A, XM_011523714.1:c.457C>G, XM_011523714.1:c.457C>A, XM_011523718.4:c.457C>G, XM_011523718.4:c.457C>A, XM_011523718.3:c.457C>G, XM_011523718.3:c.457C>A, XM_011523718.2:c.457C>G, XM_011523718.2:c.457C>A, XM_011523718.1:c.457C>G, XM_011523718.1:c.457C>A, XM_011523721.4:c.457C>G, XM_011523721.4:c.457C>A, XM_011523721.3:c.457C>G, XM_011523721.3:c.457C>A, XM_011523721.2:c.457C>G, XM_011523721.2:c.457C>A, XM_011523721.1:c.457C>G, XM_011523721.1:c.457C>A, XM_017024305.3:c.457C>G, XM_017024305.3:c.457C>A, XM_017024305.2:c.457C>G, XM_017024305.2:c.457C>A, XM_017024305.1:c.457C>G, XM_017024305.1:c.457C>A, XM_017024308.2:c.403C>G, XM_017024308.2:c.403C>A, XM_017024308.1:c.403C>G, XM_017024308.1:c.403C>A, XM_047435532.1:c.457C>G, XM_047435532.1:c.457C>A, XM_047435537.1:c.403C>G, XM_047435537.1:c.403C>A, XM_047435533.1:c.457C>G, XM_047435533.1:c.457C>A, XM_047435534.1:c.457C>G, XM_047435534.1:c.457C>A, XM_047435535.1:c.403C>G, XM_047435535.1:c.403C>A, XM_047435531.1:c.457C>G, XM_047435531.1:c.457C>A, XM_047435542.1:c.457C>G, XM_047435542.1:c.457C>A, XM_047435536.1:c.403C>G, XM_047435536.1:c.403C>A, XM_047435539.1:c.457C>G, XM_047435539.1:c.457C>A, XM_047435538.1:c.403C>G, XM_047435538.1:c.403C>A, NP_659434.2:p.Pro135Ala, NP_659434.2:p.Pro135Thr, NP_653207.1:p.Pro135Ala, NP_653207.1:p.Pro135Thr, NP_001340159.1:p.Pro135Ala, NP_001340159.1:p.Pro135Thr, NP_001340158.1:p.Pro153Ala, NP_001340158.1:p.Pro153Thr, NP_001340160.1:p.Pro135Ala, NP_001340160.1:p.Pro135Thr, XP_011522016.1:p.Pro153Ala, XP_011522016.1:p.Pro153Thr, XP_011522020.1:p.Pro153Ala, XP_011522020.1:p.Pro153Thr, XP_011522023.1:p.Pro153Ala, XP_011522023.1:p.Pro153Thr, XP_016879794.1:p.Pro153Ala, XP_016879794.1:p.Pro153Thr, XP_016879797.1:p.Pro135Ala, XP_016879797.1:p.Pro135Thr, XP_047291488.1:p.Pro153Ala, XP_047291488.1:p.Pro153Thr, XP_047291493.1:p.Pro135Ala, XP_047291493.1:p.Pro135Thr, XP_047291489.1:p.Pro153Ala, XP_047291489.1:p.Pro153Thr, XP_047291490.1:p.Pro153Ala, XP_047291490.1:p.Pro153Thr, XP_047291491.1:p.Pro135Ala, XP_047291491.1:p.Pro135Thr, XP_047291487.1:p.Pro153Ala, XP_047291487.1:p.Pro153Thr, XP_047291498.1:p.Pro153Ala, XP_047291498.1:p.Pro153Thr, XP_047291492.1:p.Pro135Ala, XP_047291492.1:p.Pro135Thr, XP_047291495.1:p.Pro153Ala, XP_047291495.1:p.Pro153Thr, XP_047291494.1:p.Pro135Ala, XP_047291494.1:p.Pro135Thr

                8.

                rs1479341645 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  T>A,C,G [Show Flanks]
                  Chromosome:
                  17:17224083 (GRCh38)
                  17:17127397 (GRCh37)
                  Canonical SPDI:
                  NC_000017.11:17224082:T:A,NC_000017.11:17224082:T:C,NC_000017.11:17224082:T:G
                  Gene:
                  FLCN (Varview)
                  Functional Consequence:
                  coding_sequence_variant,missense_variant,intron_variant
                  Clinical significance:
                  uncertain-significance
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  C=0./0 (ALFA)
                  C=0.000011/3 (TOPMED)
                  G=0.000035/1 (TOMMO)
                  HGVS:
                  NC_000017.11:g.17224083T>A, NC_000017.11:g.17224083T>C, NC_000017.11:g.17224083T>G, NC_000017.10:g.17127397T>A, NC_000017.10:g.17127397T>C, NC_000017.10:g.17127397T>G, NG_008001.2:g.18106A>T, NG_008001.2:g.18106A>G, NG_008001.2:g.18106A>C, NM_144997.7:c.457A>T, NM_144997.7:c.457A>G, NM_144997.7:c.457A>C, NM_144997.6:c.457A>T, NM_144997.6:c.457A>G, NM_144997.6:c.457A>C, NM_144997.5:c.457A>T, NM_144997.5:c.457A>G, NM_144997.5:c.457A>C, NM_144606.7:c.457A>T, NM_144606.7:c.457A>G, NM_144606.7:c.457A>C, NM_144606.6:c.457A>T, NM_144606.6:c.457A>G, NM_144606.6:c.457A>C, NM_144606.5:c.457A>T, NM_144606.5:c.457A>G, NM_144606.5:c.457A>C, NM_001353230.2:c.457A>T, NM_001353230.2:c.457A>G, NM_001353230.2:c.457A>C, NM_001353230.1:c.457A>T, NM_001353230.1:c.457A>G, NM_001353230.1:c.457A>C, NM_001353229.2:c.511A>T, NM_001353229.2:c.511A>G, NM_001353229.2:c.511A>C, NM_001353229.1:c.511A>T, NM_001353229.1:c.511A>G, NM_001353229.1:c.511A>C, NM_001353231.2:c.457A>T, NM_001353231.2:c.457A>G, NM_001353231.2:c.457A>C, NM_001353231.1:c.457A>T, NM_001353231.1:c.457A>G, NM_001353231.1:c.457A>C, XM_011523714.4:c.511A>T, XM_011523714.4:c.511A>G, XM_011523714.4:c.511A>C, XM_011523714.3:c.511A>T, XM_011523714.3:c.511A>G, XM_011523714.3:c.511A>C, XM_011523714.2:c.511A>T, XM_011523714.2:c.511A>G, XM_011523714.2:c.511A>C, XM_011523714.1:c.511A>T, XM_011523714.1:c.511A>G, XM_011523714.1:c.511A>C, XM_011523718.4:c.511A>T, XM_011523718.4:c.511A>G, XM_011523718.4:c.511A>C, XM_011523718.3:c.511A>T, XM_011523718.3:c.511A>G, XM_011523718.3:c.511A>C, XM_011523718.2:c.511A>T, XM_011523718.2:c.511A>G, XM_011523718.2:c.511A>C, XM_011523718.1:c.511A>T, XM_011523718.1:c.511A>G, XM_011523718.1:c.511A>C, XM_011523721.4:c.511A>T, XM_011523721.4:c.511A>G, XM_011523721.4:c.511A>C, XM_011523721.3:c.511A>T, XM_011523721.3:c.511A>G, XM_011523721.3:c.511A>C, XM_011523721.2:c.511A>T, XM_011523721.2:c.511A>G, XM_011523721.2:c.511A>C, XM_011523721.1:c.511A>T, XM_011523721.1:c.511A>G, XM_011523721.1:c.511A>C, XM_017024305.3:c.511A>T, XM_017024305.3:c.511A>G, XM_017024305.3:c.511A>C, XM_017024305.2:c.511A>T, XM_017024305.2:c.511A>G, XM_017024305.2:c.511A>C, XM_017024305.1:c.511A>T, XM_017024305.1:c.511A>G, XM_017024305.1:c.511A>C, XM_017024308.2:c.457A>T, XM_017024308.2:c.457A>G, XM_017024308.2:c.457A>C, XM_017024308.1:c.457A>T, XM_017024308.1:c.457A>G, XM_017024308.1:c.457A>C, XM_047435532.1:c.511A>T, XM_047435532.1:c.511A>G, XM_047435532.1:c.511A>C, XM_047435537.1:c.457A>T, XM_047435537.1:c.457A>G, XM_047435537.1:c.457A>C, XM_047435533.1:c.511A>T, XM_047435533.1:c.511A>G, XM_047435533.1:c.511A>C, XM_047435534.1:c.511A>T, XM_047435534.1:c.511A>G, XM_047435534.1:c.511A>C, XM_047435535.1:c.457A>T, XM_047435535.1:c.457A>G, XM_047435535.1:c.457A>C, XM_047435531.1:c.511A>T, XM_047435531.1:c.511A>G, XM_047435531.1:c.511A>C, XM_047435542.1:c.511A>T, XM_047435542.1:c.511A>G, XM_047435542.1:c.511A>C, XM_047435536.1:c.457A>T, XM_047435536.1:c.457A>G, XM_047435536.1:c.457A>C, XM_047435539.1:c.511A>T, XM_047435539.1:c.511A>G, XM_047435539.1:c.511A>C, XM_047435538.1:c.457A>T, XM_047435538.1:c.457A>G, XM_047435538.1:c.457A>C, NP_659434.2:p.Ser153Cys, NP_659434.2:p.Ser153Gly, NP_659434.2:p.Ser153Arg, NP_653207.1:p.Ser153Cys, NP_653207.1:p.Ser153Gly, NP_653207.1:p.Ser153Arg, NP_001340159.1:p.Ser153Cys, NP_001340159.1:p.Ser153Gly, NP_001340159.1:p.Ser153Arg, NP_001340158.1:p.Ser171Cys, NP_001340158.1:p.Ser171Gly, NP_001340158.1:p.Ser171Arg, NP_001340160.1:p.Ser153Cys, NP_001340160.1:p.Ser153Gly, NP_001340160.1:p.Ser153Arg, XP_011522016.1:p.Ser171Cys, XP_011522016.1:p.Ser171Gly, XP_011522016.1:p.Ser171Arg, XP_011522020.1:p.Ser171Cys, XP_011522020.1:p.Ser171Gly, XP_011522020.1:p.Ser171Arg, XP_011522023.1:p.Ser171Cys, XP_011522023.1:p.Ser171Gly, XP_011522023.1:p.Ser171Arg, XP_016879794.1:p.Ser171Cys, XP_016879794.1:p.Ser171Gly, XP_016879794.1:p.Ser171Arg, XP_016879797.1:p.Ser153Cys, XP_016879797.1:p.Ser153Gly, XP_016879797.1:p.Ser153Arg, XP_047291488.1:p.Ser171Cys, XP_047291488.1:p.Ser171Gly, XP_047291488.1:p.Ser171Arg, XP_047291493.1:p.Ser153Cys, XP_047291493.1:p.Ser153Gly, XP_047291493.1:p.Ser153Arg, XP_047291489.1:p.Ser171Cys, XP_047291489.1:p.Ser171Gly, XP_047291489.1:p.Ser171Arg, XP_047291490.1:p.Ser171Cys, XP_047291490.1:p.Ser171Gly, XP_047291490.1:p.Ser171Arg, XP_047291491.1:p.Ser153Cys, XP_047291491.1:p.Ser153Gly, XP_047291491.1:p.Ser153Arg, XP_047291487.1:p.Ser171Cys, XP_047291487.1:p.Ser171Gly, XP_047291487.1:p.Ser171Arg, XP_047291498.1:p.Ser171Cys, XP_047291498.1:p.Ser171Gly, XP_047291498.1:p.Ser171Arg, XP_047291492.1:p.Ser153Cys, XP_047291492.1:p.Ser153Gly, XP_047291492.1:p.Ser153Arg, XP_047291495.1:p.Ser171Cys, XP_047291495.1:p.Ser171Gly, XP_047291495.1:p.Ser171Arg, XP_047291494.1:p.Ser153Cys, XP_047291494.1:p.Ser153Gly, XP_047291494.1:p.Ser153Arg

                  9.

                  rs1475395794 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>G [Show Flanks]
                    Chromosome:
                    17:17222506 (GRCh38)
                    17:17125820 (GRCh37)
                    Canonical SPDI:
                    NC_000017.11:17222505:A:G
                    Gene:
                    FLCN (Varview)
                    Functional Consequence:
                    synonymous_variant,coding_sequence_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    G=0./0 (ALFA)
                    G=0.000004/1 (TOPMED)
                    G=0.000007/1 (GnomAD)
                    HGVS:
                    NC_000017.11:g.17222506A>G, NC_000017.10:g.17125820A>G, NG_008001.2:g.19683T>C, NM_144997.7:c.774T>C, NM_144997.6:c.774T>C, NM_144997.5:c.774T>C, NM_144606.7:c.774T>C, NM_144606.6:c.774T>C, NM_144606.5:c.774T>C, NM_001353230.2:c.774T>C, NM_001353230.1:c.774T>C, NM_001353229.2:c.828T>C, NM_001353229.1:c.828T>C, NM_001353231.2:c.774T>C, NM_001353231.1:c.774T>C, XM_011523714.4:c.828T>C, XM_011523714.3:c.828T>C, XM_011523714.2:c.828T>C, XM_011523714.1:c.828T>C, XM_011523718.4:c.828T>C, XM_011523718.3:c.828T>C, XM_011523718.2:c.828T>C, XM_011523718.1:c.828T>C, XM_011523721.4:c.828T>C, XM_011523721.3:c.828T>C, XM_011523721.2:c.828T>C, XM_011523721.1:c.828T>C, XM_017024305.3:c.828T>C, XM_017024305.2:c.828T>C, XM_017024305.1:c.828T>C, XM_017024309.3:c.552T>C, XM_017024309.2:c.552T>C, XM_017024309.1:c.552T>C, XM_017024308.2:c.774T>C, XM_017024308.1:c.774T>C, XM_047435532.1:c.828T>C, XM_047435537.1:c.774T>C, XM_047435533.1:c.828T>C, XM_047435534.1:c.828T>C, XM_047435535.1:c.774T>C, XM_047435540.1:c.552T>C, XM_047435531.1:c.828T>C, XM_047435542.1:c.828T>C, XM_047435536.1:c.774T>C, XM_047435539.1:c.828T>C, XM_047435538.1:c.774T>C, XM_047435541.1:c.552T>C

                    10.

                    rs1473012462 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>T [Show Flanks]
                      Chromosome:
                      17:17223981 (GRCh38)
                      17:17127295 (GRCh37)
                      Canonical SPDI:
                      NC_000017.11:17223980:G:T
                      Gene:
                      FLCN (Varview)
                      Functional Consequence:
                      coding_sequence_variant,missense_variant,intron_variant
                      Clinical significance:
                      uncertain-significance
                      Validated:
                      by frequency
                      MAF:
                      T=0.000004/1 (GnomAD_exomes)
                      HGVS:
                      NC_000017.11:g.17223981G>T, NC_000017.10:g.17127295G>T, NG_008001.2:g.18208C>A, NM_144997.7:c.559C>A, NM_144997.6:c.559C>A, NM_144997.5:c.559C>A, NM_144606.7:c.559C>A, NM_144606.6:c.559C>A, NM_144606.5:c.559C>A, NM_001353230.2:c.559C>A, NM_001353230.1:c.559C>A, NM_001353229.2:c.613C>A, NM_001353229.1:c.613C>A, NM_001353231.2:c.559C>A, NM_001353231.1:c.559C>A, XM_011523714.4:c.613C>A, XM_011523714.3:c.613C>A, XM_011523714.2:c.613C>A, XM_011523714.1:c.613C>A, XM_011523718.4:c.613C>A, XM_011523718.3:c.613C>A, XM_011523718.2:c.613C>A, XM_011523718.1:c.613C>A, XM_011523721.4:c.613C>A, XM_011523721.3:c.613C>A, XM_011523721.2:c.613C>A, XM_011523721.1:c.613C>A, XM_017024305.3:c.613C>A, XM_017024305.2:c.613C>A, XM_017024305.1:c.613C>A, XM_017024308.2:c.559C>A, XM_017024308.1:c.559C>A, XM_047435532.1:c.613C>A, XM_047435537.1:c.559C>A, XM_047435533.1:c.613C>A, XM_047435534.1:c.613C>A, XM_047435535.1:c.559C>A, XM_047435531.1:c.613C>A, XM_047435542.1:c.613C>A, XM_047435536.1:c.559C>A, XM_047435539.1:c.613C>A, XM_047435538.1:c.559C>A, NP_659434.2:p.Pro187Thr, NP_653207.1:p.Pro187Thr, NP_001340159.1:p.Pro187Thr, NP_001340158.1:p.Pro205Thr, NP_001340160.1:p.Pro187Thr, XP_011522016.1:p.Pro205Thr, XP_011522020.1:p.Pro205Thr, XP_011522023.1:p.Pro205Thr, XP_016879794.1:p.Pro205Thr, XP_016879797.1:p.Pro187Thr, XP_047291488.1:p.Pro205Thr, XP_047291493.1:p.Pro187Thr, XP_047291489.1:p.Pro205Thr, XP_047291490.1:p.Pro205Thr, XP_047291491.1:p.Pro187Thr, XP_047291487.1:p.Pro205Thr, XP_047291498.1:p.Pro205Thr, XP_047291492.1:p.Pro187Thr, XP_047291495.1:p.Pro205Thr, XP_047291494.1:p.Pro187Thr

                      11.

                      rs1471089893 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A [Show Flanks]
                        Chromosome:
                        17:17222578 (GRCh38)
                        17:17125892 (GRCh37)
                        Canonical SPDI:
                        NC_000017.11:17222577:G:A
                        Gene:
                        FLCN (Varview)
                        Functional Consequence:
                        synonymous_variant,coding_sequence_variant
                        Clinical significance:
                        likely-benign
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        A=0./0 (ALFA)
                        A=0.000007/1 (GnomAD)
                        A=0.000011/3 (TOPMED)
                        HGVS:
                        NC_000017.11:g.17222578G>A, NC_000017.10:g.17125892G>A, NG_008001.2:g.19611C>T, NM_144997.7:c.702C>T, NM_144997.6:c.702C>T, NM_144997.5:c.702C>T, NM_144606.7:c.702C>T, NM_144606.6:c.702C>T, NM_144606.5:c.702C>T, NM_001353230.2:c.702C>T, NM_001353230.1:c.702C>T, NM_001353229.2:c.756C>T, NM_001353229.1:c.756C>T, NM_001353231.2:c.702C>T, NM_001353231.1:c.702C>T, XM_011523714.4:c.756C>T, XM_011523714.3:c.756C>T, XM_011523714.2:c.756C>T, XM_011523714.1:c.756C>T, XM_011523718.4:c.756C>T, XM_011523718.3:c.756C>T, XM_011523718.2:c.756C>T, XM_011523718.1:c.756C>T, XM_011523721.4:c.756C>T, XM_011523721.3:c.756C>T, XM_011523721.2:c.756C>T, XM_011523721.1:c.756C>T, XM_017024305.3:c.756C>T, XM_017024305.2:c.756C>T, XM_017024305.1:c.756C>T, XM_017024309.3:c.480C>T, XM_017024309.2:c.480C>T, XM_017024309.1:c.480C>T, XM_017024308.2:c.702C>T, XM_017024308.1:c.702C>T, XM_047435532.1:c.756C>T, XM_047435537.1:c.702C>T, XM_047435533.1:c.756C>T, XM_047435534.1:c.756C>T, XM_047435535.1:c.702C>T, XM_047435540.1:c.480C>T, XM_047435531.1:c.756C>T, XM_047435542.1:c.756C>T, XM_047435536.1:c.702C>T, XM_047435539.1:c.756C>T, XM_047435538.1:c.702C>T, XM_047435541.1:c.480C>T

                        12.

                        rs1468227944 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>A,C,G [Show Flanks]
                          Chromosome:
                          17:17223989 (GRCh38)
                          17:17127303 (GRCh37)
                          Canonical SPDI:
                          NC_000017.11:17223988:T:A,NC_000017.11:17223988:T:C,NC_000017.11:17223988:T:G
                          Gene:
                          FLCN (Varview)
                          Functional Consequence:
                          intron_variant,missense_variant,coding_sequence_variant
                          Clinical significance:
                          uncertain-significance
                          Validated:
                          by frequency,by cluster
                          MAF:
                          G=0.000004/1 (GnomAD_exomes)
                          HGVS:
                          NC_000017.11:g.17223989T>A, NC_000017.11:g.17223989T>C, NC_000017.11:g.17223989T>G, NC_000017.10:g.17127303T>A, NC_000017.10:g.17127303T>C, NC_000017.10:g.17127303T>G, NG_008001.2:g.18200A>T, NG_008001.2:g.18200A>G, NG_008001.2:g.18200A>C, NM_144997.7:c.551A>T, NM_144997.7:c.551A>G, NM_144997.7:c.551A>C, NM_144997.6:c.551A>T, NM_144997.6:c.551A>G, NM_144997.6:c.551A>C, NM_144997.5:c.551A>T, NM_144997.5:c.551A>G, NM_144997.5:c.551A>C, NM_144606.7:c.551A>T, NM_144606.7:c.551A>G, NM_144606.7:c.551A>C, NM_144606.6:c.551A>T, NM_144606.6:c.551A>G, NM_144606.6:c.551A>C, NM_144606.5:c.551A>T, NM_144606.5:c.551A>G, NM_144606.5:c.551A>C, NM_001353230.2:c.551A>T, NM_001353230.2:c.551A>G, NM_001353230.2:c.551A>C, NM_001353230.1:c.551A>T, NM_001353230.1:c.551A>G, NM_001353230.1:c.551A>C, NM_001353229.2:c.605A>T, NM_001353229.2:c.605A>G, NM_001353229.2:c.605A>C, NM_001353229.1:c.605A>T, NM_001353229.1:c.605A>G, NM_001353229.1:c.605A>C, NM_001353231.2:c.551A>T, NM_001353231.2:c.551A>G, NM_001353231.2:c.551A>C, NM_001353231.1:c.551A>T, NM_001353231.1:c.551A>G, NM_001353231.1:c.551A>C, XM_011523714.4:c.605A>T, XM_011523714.4:c.605A>G, XM_011523714.4:c.605A>C, XM_011523714.3:c.605A>T, XM_011523714.3:c.605A>G, XM_011523714.3:c.605A>C, XM_011523714.2:c.605A>T, XM_011523714.2:c.605A>G, XM_011523714.2:c.605A>C, XM_011523714.1:c.605A>T, XM_011523714.1:c.605A>G, XM_011523714.1:c.605A>C, XM_011523718.4:c.605A>T, XM_011523718.4:c.605A>G, XM_011523718.4:c.605A>C, XM_011523718.3:c.605A>T, XM_011523718.3:c.605A>G, XM_011523718.3:c.605A>C, XM_011523718.2:c.605A>T, XM_011523718.2:c.605A>G, XM_011523718.2:c.605A>C, XM_011523718.1:c.605A>T, XM_011523718.1:c.605A>G, XM_011523718.1:c.605A>C, XM_011523721.4:c.605A>T, XM_011523721.4:c.605A>G, XM_011523721.4:c.605A>C, XM_011523721.3:c.605A>T, XM_011523721.3:c.605A>G, XM_011523721.3:c.605A>C, XM_011523721.2:c.605A>T, XM_011523721.2:c.605A>G, XM_011523721.2:c.605A>C, XM_011523721.1:c.605A>T, XM_011523721.1:c.605A>G, XM_011523721.1:c.605A>C, XM_017024305.3:c.605A>T, XM_017024305.3:c.605A>G, XM_017024305.3:c.605A>C, XM_017024305.2:c.605A>T, XM_017024305.2:c.605A>G, XM_017024305.2:c.605A>C, XM_017024305.1:c.605A>T, XM_017024305.1:c.605A>G, XM_017024305.1:c.605A>C, XM_017024308.2:c.551A>T, XM_017024308.2:c.551A>G, XM_017024308.2:c.551A>C, XM_017024308.1:c.551A>T, XM_017024308.1:c.551A>G, XM_017024308.1:c.551A>C, XM_047435532.1:c.605A>T, XM_047435532.1:c.605A>G, XM_047435532.1:c.605A>C, XM_047435537.1:c.551A>T, XM_047435537.1:c.551A>G, XM_047435537.1:c.551A>C, XM_047435533.1:c.605A>T, XM_047435533.1:c.605A>G, XM_047435533.1:c.605A>C, XM_047435534.1:c.605A>T, XM_047435534.1:c.605A>G, XM_047435534.1:c.605A>C, XM_047435535.1:c.551A>T, XM_047435535.1:c.551A>G, XM_047435535.1:c.551A>C, XM_047435531.1:c.605A>T, XM_047435531.1:c.605A>G, XM_047435531.1:c.605A>C, XM_047435542.1:c.605A>T, XM_047435542.1:c.605A>G, XM_047435542.1:c.605A>C, XM_047435536.1:c.551A>T, XM_047435536.1:c.551A>G, XM_047435536.1:c.551A>C, XM_047435539.1:c.605A>T, XM_047435539.1:c.605A>G, XM_047435539.1:c.605A>C, XM_047435538.1:c.551A>T, XM_047435538.1:c.551A>G, XM_047435538.1:c.551A>C, NP_659434.2:p.Asn184Ile, NP_659434.2:p.Asn184Ser, NP_659434.2:p.Asn184Thr, NP_653207.1:p.Asn184Ile, NP_653207.1:p.Asn184Ser, NP_653207.1:p.Asn184Thr, NP_001340159.1:p.Asn184Ile, NP_001340159.1:p.Asn184Ser, NP_001340159.1:p.Asn184Thr, NP_001340158.1:p.Asn202Ile, NP_001340158.1:p.Asn202Ser, NP_001340158.1:p.Asn202Thr, NP_001340160.1:p.Asn184Ile, NP_001340160.1:p.Asn184Ser, NP_001340160.1:p.Asn184Thr, XP_011522016.1:p.Asn202Ile, XP_011522016.1:p.Asn202Ser, XP_011522016.1:p.Asn202Thr, XP_011522020.1:p.Asn202Ile, XP_011522020.1:p.Asn202Ser, XP_011522020.1:p.Asn202Thr, XP_011522023.1:p.Asn202Ile, XP_011522023.1:p.Asn202Ser, XP_011522023.1:p.Asn202Thr, XP_016879794.1:p.Asn202Ile, XP_016879794.1:p.Asn202Ser, XP_016879794.1:p.Asn202Thr, XP_016879797.1:p.Asn184Ile, XP_016879797.1:p.Asn184Ser, XP_016879797.1:p.Asn184Thr, XP_047291488.1:p.Asn202Ile, XP_047291488.1:p.Asn202Ser, XP_047291488.1:p.Asn202Thr, XP_047291493.1:p.Asn184Ile, XP_047291493.1:p.Asn184Ser, XP_047291493.1:p.Asn184Thr, XP_047291489.1:p.Asn202Ile, XP_047291489.1:p.Asn202Ser, XP_047291489.1:p.Asn202Thr, XP_047291490.1:p.Asn202Ile, XP_047291490.1:p.Asn202Ser, XP_047291490.1:p.Asn202Thr, XP_047291491.1:p.Asn184Ile, XP_047291491.1:p.Asn184Ser, XP_047291491.1:p.Asn184Thr, XP_047291487.1:p.Asn202Ile, XP_047291487.1:p.Asn202Ser, XP_047291487.1:p.Asn202Thr, XP_047291498.1:p.Asn202Ile, XP_047291498.1:p.Asn202Ser, XP_047291498.1:p.Asn202Thr, XP_047291492.1:p.Asn184Ile, XP_047291492.1:p.Asn184Ser, XP_047291492.1:p.Asn184Thr, XP_047291495.1:p.Asn202Ile, XP_047291495.1:p.Asn202Ser, XP_047291495.1:p.Asn202Thr, XP_047291494.1:p.Asn184Ile, XP_047291494.1:p.Asn184Ser, XP_047291494.1:p.Asn184Thr

                          13.

                          rs1468052130 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A [Show Flanks]
                            Chromosome:
                            17:17221423 (GRCh38)
                            17:17124737 (GRCh37)
                            Canonical SPDI:
                            NC_000017.11:17221422:G:A
                            Gene:
                            FLCN (Varview)
                            Functional Consequence:
                            intron_variant,missense_variant,coding_sequence_variant
                            Validated:
                            by frequency,by cluster
                            MAF:
                            A=0.000004/1 (GnomAD_exomes)
                            HGVS:

                            14.

                            rs1466982463 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>T [Show Flanks]
                              Chromosome:
                              17:17221497 (GRCh38)
                              17:17124811 (GRCh37)
                              Canonical SPDI:
                              NC_000017.11:17221496:C:T
                              Gene:
                              FLCN (Varview)
                              Functional Consequence:
                              stop_gained,intron_variant,coding_sequence_variant
                              HGVS:

                              15.

                              rs1463085081 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>T [Show Flanks]
                                Chromosome:
                                17:17221465 (GRCh38)
                                17:17124779 (GRCh37)
                                Canonical SPDI:
                                NC_000017.11:17221464:A:T
                                Gene:
                                FLCN (Varview)
                                Functional Consequence:
                                intron_variant,missense_variant,coding_sequence_variant
                                Validated:
                                by frequency
                                MAF:
                                T=0.000004/1 (GnomAD_exomes)
                                HGVS:

                                16.

                                rs1460258176 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>T [Show Flanks]
                                  Chromosome:
                                  17:17221405 (GRCh38)
                                  17:17124719 (GRCh37)
                                  Canonical SPDI:
                                  NC_000017.11:17221404:C:T
                                  Gene:
                                  FLCN (Varview)
                                  Functional Consequence:
                                  intron_variant,missense_variant,coding_sequence_variant
                                  HGVS:

                                  17.

                                  rs1457527275 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A,T [Show Flanks]
                                    Chromosome:
                                    17:17224114 (GRCh38)
                                    17:17127428 (GRCh37)
                                    Canonical SPDI:
                                    NC_000017.11:17224113:G:A,NC_000017.11:17224113:G:T
                                    Gene:
                                    FLCN (Varview)
                                    Functional Consequence:
                                    synonymous_variant,intron_variant,missense_variant,coding_sequence_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    T=0.000224/1 (ALFA)
                                    T=0.000007/1 (GnomAD)
                                    T=0.000223/1 (Estonian)
                                    HGVS:
                                    NC_000017.11:g.17224114G>A, NC_000017.11:g.17224114G>T, NC_000017.10:g.17127428G>A, NC_000017.10:g.17127428G>T, NG_008001.2:g.18075C>T, NG_008001.2:g.18075C>A, NM_144997.7:c.426C>T, NM_144997.7:c.426C>A, NM_144997.6:c.426C>T, NM_144997.6:c.426C>A, NM_144997.5:c.426C>T, NM_144997.5:c.426C>A, NM_144606.7:c.426C>T, NM_144606.7:c.426C>A, NM_144606.6:c.426C>T, NM_144606.6:c.426C>A, NM_144606.5:c.426C>T, NM_144606.5:c.426C>A, NM_001353230.2:c.426C>T, NM_001353230.2:c.426C>A, NM_001353230.1:c.426C>T, NM_001353230.1:c.426C>A, NM_001353229.2:c.480C>T, NM_001353229.2:c.480C>A, NM_001353229.1:c.480C>T, NM_001353229.1:c.480C>A, NM_001353231.2:c.426C>T, NM_001353231.2:c.426C>A, NM_001353231.1:c.426C>T, NM_001353231.1:c.426C>A, XM_011523714.4:c.480C>T, XM_011523714.4:c.480C>A, XM_011523714.3:c.480C>T, XM_011523714.3:c.480C>A, XM_011523714.2:c.480C>T, XM_011523714.2:c.480C>A, XM_011523714.1:c.480C>T, XM_011523714.1:c.480C>A, XM_011523718.4:c.480C>T, XM_011523718.4:c.480C>A, XM_011523718.3:c.480C>T, XM_011523718.3:c.480C>A, XM_011523718.2:c.480C>T, XM_011523718.2:c.480C>A, XM_011523718.1:c.480C>T, XM_011523718.1:c.480C>A, XM_011523721.4:c.480C>T, XM_011523721.4:c.480C>A, XM_011523721.3:c.480C>T, XM_011523721.3:c.480C>A, XM_011523721.2:c.480C>T, XM_011523721.2:c.480C>A, XM_011523721.1:c.480C>T, XM_011523721.1:c.480C>A, XM_017024305.3:c.480C>T, XM_017024305.3:c.480C>A, XM_017024305.2:c.480C>T, XM_017024305.2:c.480C>A, XM_017024305.1:c.480C>T, XM_017024305.1:c.480C>A, XM_017024308.2:c.426C>T, XM_017024308.2:c.426C>A, XM_017024308.1:c.426C>T, XM_017024308.1:c.426C>A, XM_047435532.1:c.480C>T, XM_047435532.1:c.480C>A, XM_047435537.1:c.426C>T, XM_047435537.1:c.426C>A, XM_047435533.1:c.480C>T, XM_047435533.1:c.480C>A, XM_047435534.1:c.480C>T, XM_047435534.1:c.480C>A, XM_047435535.1:c.426C>T, XM_047435535.1:c.426C>A, XM_047435531.1:c.480C>T, XM_047435531.1:c.480C>A, XM_047435542.1:c.480C>T, XM_047435542.1:c.480C>A, XM_047435536.1:c.426C>T, XM_047435536.1:c.426C>A, XM_047435539.1:c.480C>T, XM_047435539.1:c.480C>A, XM_047435538.1:c.426C>T, XM_047435538.1:c.426C>A, NP_659434.2:p.Phe142Leu, NP_653207.1:p.Phe142Leu, NP_001340159.1:p.Phe142Leu, NP_001340158.1:p.Phe160Leu, NP_001340160.1:p.Phe142Leu, XP_011522016.1:p.Phe160Leu, XP_011522020.1:p.Phe160Leu, XP_011522023.1:p.Phe160Leu, XP_016879794.1:p.Phe160Leu, XP_016879797.1:p.Phe142Leu, XP_047291488.1:p.Phe160Leu, XP_047291493.1:p.Phe142Leu, XP_047291489.1:p.Phe160Leu, XP_047291490.1:p.Phe160Leu, XP_047291491.1:p.Phe142Leu, XP_047291487.1:p.Phe160Leu, XP_047291498.1:p.Phe160Leu, XP_047291492.1:p.Phe142Leu, XP_047291495.1:p.Phe160Leu, XP_047291494.1:p.Phe142Leu

                                    18.

                                    rs1457428918 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>C [Show Flanks]
                                      Chromosome:
                                      17:17226236 (GRCh38)
                                      17:17129550 (GRCh37)
                                      Canonical SPDI:
                                      NC_000017.11:17226235:G:C
                                      Gene:
                                      FLCN (Varview)
                                      Functional Consequence:
                                      synonymous_variant,coding_sequence_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      C=0./0 (ALFA)
                                      HGVS:
                                      NC_000017.11:g.17226236G>C, NC_000017.10:g.17129550G>C, NG_008001.2:g.15953C>G, NM_144997.7:c.336C>G, NM_144997.6:c.336C>G, NM_144997.5:c.336C>G, NM_144606.7:c.336C>G, NM_144606.6:c.336C>G, NM_144606.5:c.336C>G, NM_001353230.2:c.336C>G, NM_001353230.1:c.336C>G, NM_001353229.2:c.336C>G, NM_001353229.1:c.336C>G, NM_001353231.2:c.336C>G, NM_001353231.1:c.336C>G, XM_011523714.4:c.336C>G, XM_011523714.3:c.336C>G, XM_011523714.2:c.336C>G, XM_011523714.1:c.336C>G, XM_011523718.4:c.336C>G, XM_011523718.3:c.336C>G, XM_011523718.2:c.336C>G, XM_011523718.1:c.336C>G, XM_011523721.4:c.336C>G, XM_011523721.3:c.336C>G, XM_011523721.2:c.336C>G, XM_011523721.1:c.336C>G, XM_017024305.3:c.336C>G, XM_017024305.2:c.336C>G, XM_017024305.1:c.336C>G, XM_017024309.3:c.336C>G, XM_017024309.2:c.336C>G, XM_017024309.1:c.336C>G, XM_017024308.2:c.336C>G, XM_017024308.1:c.336C>G, XM_047435532.1:c.336C>G, XM_047435537.1:c.336C>G, XM_047435533.1:c.336C>G, XM_047435534.1:c.336C>G, XM_047435535.1:c.336C>G, XM_047435540.1:c.336C>G, XM_047435531.1:c.336C>G, XM_047435542.1:c.336C>G, XM_047435536.1:c.336C>G, XM_047435539.1:c.336C>G, XM_047435538.1:c.336C>G, XM_047435541.1:c.336C>G

                                      19.

                                      rs1456509027 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>A,G,T [Show Flanks]
                                        Chromosome:
                                        17:17223930 (GRCh38)
                                        17:17127244 (GRCh37)
                                        Canonical SPDI:
                                        NC_000017.11:17223929:C:A,NC_000017.11:17223929:C:G,NC_000017.11:17223929:C:T
                                        Gene:
                                        FLCN (Varview)
                                        Functional Consequence:
                                        intron_variant,missense_variant,coding_sequence_variant
                                        Clinical significance:
                                        uncertain-significance,pathogenic
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        T=0./0 (ALFA)
                                        T=0.000004/1 (GnomAD_exomes)
                                        A=0.000004/1 (TOPMED)
                                        T=0.000007/1 (GnomAD)
                                        HGVS:
                                        NC_000017.11:g.17223930C>A, NC_000017.11:g.17223930C>G, NC_000017.11:g.17223930C>T, NC_000017.10:g.17127244C>A, NC_000017.10:g.17127244C>G, NC_000017.10:g.17127244C>T, NG_008001.2:g.18259G>T, NG_008001.2:g.18259G>C, NG_008001.2:g.18259G>A, NM_144997.7:c.610G>T, NM_144997.7:c.610G>C, NM_144997.7:c.610G>A, NM_144997.6:c.610G>T, NM_144997.6:c.610G>C, NM_144997.6:c.610G>A, NM_144997.5:c.610G>T, NM_144997.5:c.610G>C, NM_144997.5:c.610G>A, NM_144606.7:c.610G>T, NM_144606.7:c.610G>C, NM_144606.7:c.610G>A, NM_144606.6:c.610G>T, NM_144606.6:c.610G>C, NM_144606.6:c.610G>A, NM_144606.5:c.610G>T, NM_144606.5:c.610G>C, NM_144606.5:c.610G>A, NM_001353230.2:c.610G>T, NM_001353230.2:c.610G>C, NM_001353230.2:c.610G>A, NM_001353230.1:c.610G>T, NM_001353230.1:c.610G>C, NM_001353230.1:c.610G>A, NM_001353229.2:c.664G>T, NM_001353229.2:c.664G>C, NM_001353229.2:c.664G>A, NM_001353229.1:c.664G>T, NM_001353229.1:c.664G>C, NM_001353229.1:c.664G>A, NM_001353231.2:c.610G>T, NM_001353231.2:c.610G>C, NM_001353231.2:c.610G>A, NM_001353231.1:c.610G>T, NM_001353231.1:c.610G>C, NM_001353231.1:c.610G>A, XM_011523714.4:c.664G>T, XM_011523714.4:c.664G>C, XM_011523714.4:c.664G>A, XM_011523714.3:c.664G>T, XM_011523714.3:c.664G>C, XM_011523714.3:c.664G>A, XM_011523714.2:c.664G>T, XM_011523714.2:c.664G>C, XM_011523714.2:c.664G>A, XM_011523714.1:c.664G>T, XM_011523714.1:c.664G>C, XM_011523714.1:c.664G>A, XM_011523718.4:c.664G>T, XM_011523718.4:c.664G>C, XM_011523718.4:c.664G>A, XM_011523718.3:c.664G>T, XM_011523718.3:c.664G>C, XM_011523718.3:c.664G>A, XM_011523718.2:c.664G>T, XM_011523718.2:c.664G>C, XM_011523718.2:c.664G>A, XM_011523718.1:c.664G>T, XM_011523718.1:c.664G>C, XM_011523718.1:c.664G>A, XM_011523721.4:c.664G>T, XM_011523721.4:c.664G>C, XM_011523721.4:c.664G>A, XM_011523721.3:c.664G>T, XM_011523721.3:c.664G>C, XM_011523721.3:c.664G>A, XM_011523721.2:c.664G>T, XM_011523721.2:c.664G>C, XM_011523721.2:c.664G>A, XM_011523721.1:c.664G>T, XM_011523721.1:c.664G>C, XM_011523721.1:c.664G>A, XM_017024305.3:c.664G>T, XM_017024305.3:c.664G>C, XM_017024305.3:c.664G>A, XM_017024305.2:c.664G>T, XM_017024305.2:c.664G>C, XM_017024305.2:c.664G>A, XM_017024305.1:c.664G>T, XM_017024305.1:c.664G>C, XM_017024305.1:c.664G>A, XM_017024308.2:c.610G>T, XM_017024308.2:c.610G>C, XM_017024308.2:c.610G>A, XM_017024308.1:c.610G>T, XM_017024308.1:c.610G>C, XM_017024308.1:c.610G>A, XM_047435532.1:c.664G>T, XM_047435532.1:c.664G>C, XM_047435532.1:c.664G>A, XM_047435537.1:c.610G>T, XM_047435537.1:c.610G>C, XM_047435537.1:c.610G>A, XM_047435533.1:c.664G>T, XM_047435533.1:c.664G>C, XM_047435533.1:c.664G>A, XM_047435534.1:c.664G>T, XM_047435534.1:c.664G>C, XM_047435534.1:c.664G>A, XM_047435535.1:c.610G>T, XM_047435535.1:c.610G>C, XM_047435535.1:c.610G>A, XM_047435531.1:c.664G>T, XM_047435531.1:c.664G>C, XM_047435531.1:c.664G>A, XM_047435542.1:c.664G>T, XM_047435542.1:c.664G>C, XM_047435542.1:c.664G>A, XM_047435536.1:c.610G>T, XM_047435536.1:c.610G>C, XM_047435536.1:c.610G>A, XM_047435539.1:c.664G>T, XM_047435539.1:c.664G>C, XM_047435539.1:c.664G>A, XM_047435538.1:c.610G>T, XM_047435538.1:c.610G>C, XM_047435538.1:c.610G>A, NP_659434.2:p.Ala204Ser, NP_659434.2:p.Ala204Pro, NP_659434.2:p.Ala204Thr, NP_653207.1:p.Ala204Ser, NP_653207.1:p.Ala204Pro, NP_653207.1:p.Ala204Thr, NP_001340159.1:p.Ala204Ser, NP_001340159.1:p.Ala204Pro, NP_001340159.1:p.Ala204Thr, NP_001340158.1:p.Ala222Ser, NP_001340158.1:p.Ala222Pro, NP_001340158.1:p.Ala222Thr, NP_001340160.1:p.Ala204Ser, NP_001340160.1:p.Ala204Pro, NP_001340160.1:p.Ala204Thr, XP_011522016.1:p.Ala222Ser, XP_011522016.1:p.Ala222Pro, XP_011522016.1:p.Ala222Thr, XP_011522020.1:p.Ala222Ser, XP_011522020.1:p.Ala222Pro, XP_011522020.1:p.Ala222Thr, XP_011522023.1:p.Ala222Ser, XP_011522023.1:p.Ala222Pro, XP_011522023.1:p.Ala222Thr, XP_016879794.1:p.Ala222Ser, XP_016879794.1:p.Ala222Pro, XP_016879794.1:p.Ala222Thr, XP_016879797.1:p.Ala204Ser, XP_016879797.1:p.Ala204Pro, XP_016879797.1:p.Ala204Thr, XP_047291488.1:p.Ala222Ser, XP_047291488.1:p.Ala222Pro, XP_047291488.1:p.Ala222Thr, XP_047291493.1:p.Ala204Ser, XP_047291493.1:p.Ala204Pro, XP_047291493.1:p.Ala204Thr, XP_047291489.1:p.Ala222Ser, XP_047291489.1:p.Ala222Pro, XP_047291489.1:p.Ala222Thr, XP_047291490.1:p.Ala222Ser, XP_047291490.1:p.Ala222Pro, XP_047291490.1:p.Ala222Thr, XP_047291491.1:p.Ala204Ser, XP_047291491.1:p.Ala204Pro, XP_047291491.1:p.Ala204Thr, XP_047291487.1:p.Ala222Ser, XP_047291487.1:p.Ala222Pro, XP_047291487.1:p.Ala222Thr, XP_047291498.1:p.Ala222Ser, XP_047291498.1:p.Ala222Pro, XP_047291498.1:p.Ala222Thr, XP_047291492.1:p.Ala204Ser, XP_047291492.1:p.Ala204Pro, XP_047291492.1:p.Ala204Thr, XP_047291495.1:p.Ala222Ser, XP_047291495.1:p.Ala222Pro, XP_047291495.1:p.Ala222Thr, XP_047291494.1:p.Ala204Ser, XP_047291494.1:p.Ala204Pro, XP_047291494.1:p.Ala204Thr

                                        20.

                                        rs1450440920 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>C [Show Flanks]
                                          Chromosome:
                                          17:17221390 (GRCh38)
                                          17:17124704 (GRCh37)
                                          Canonical SPDI:
                                          NC_000017.11:17221389:T:C
                                          Gene:
                                          FLCN (Varview)
                                          Functional Consequence:
                                          intron_variant,missense_variant,coding_sequence_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          C=0./0 (ALFA)
                                          C=0.000004/1 (GnomAD_exomes)
                                          C=0.000004/1 (TOPMED)
                                          HGVS:

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