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Items: 1 to 20 of 1000

1.

rs1488894613 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>C [Show Flanks]
    Chromosome:
    X:130015212 (GRCh38)
    X:129149188 (GRCh37)
    Canonical SPDI:
    NC_000023.11:130015211:T:C
    Gene:
    BCORL1 (Varview)
    Functional Consequence:
    coding_sequence_variant,missense_variant
    Validated:
    by frequency
    MAF:
    C=0.000005/1 (GnomAD_exomes)
    HGVS:
    NC_000023.11:g.130015212T>C, NC_000023.10:g.129149188T>C, NG_021274.1:g.37520T>C, NM_021946.5:c.2440T>C, NM_021946.4:c.2440T>C, NM_001184772.3:c.2440T>C, NM_001184772.2:c.2440T>C, NM_001184772.1:c.2440T>C, NM_001379450.1:c.2440T>C, NM_001379451.1:c.2440T>C, XM_005262453.5:c.2440T>C, XM_005262453.4:c.2440T>C, XM_005262453.3:c.2440T>C, XM_005262453.2:c.2440T>C, XM_005262453.1:c.2440T>C, XM_005262455.5:c.2440T>C, XM_005262455.4:c.2440T>C, XM_005262455.3:c.2440T>C, XM_005262455.2:c.2440T>C, XM_005262455.1:c.2440T>C, XM_005262456.5:c.2440T>C, XM_005262456.4:c.2440T>C, XM_005262456.3:c.2440T>C, XM_005262456.2:c.2440T>C, XM_005262456.1:c.2440T>C, XM_006724776.4:c.2440T>C, XM_006724776.3:c.2440T>C, XM_006724776.2:c.2440T>C, XM_006724776.1:c.2440T>C, XM_006724777.4:c.2440T>C, XM_006724777.3:c.2440T>C, XM_006724777.2:c.2440T>C, XM_006724777.1:c.2440T>C, XM_017029722.2:c.2440T>C, XM_017029722.1:c.2440T>C, XM_017029721.2:c.2440T>C, XM_017029721.1:c.2440T>C, XM_047442341.1:c.2440T>C, XM_047442340.1:c.2440T>C, XM_047442339.1:c.2440T>C, XM_047442346.1:c.2146T>C, XM_047442345.1:c.2440T>C, XM_047442343.1:c.2440T>C, XM_047442347.1:c.2146T>C, XM_047442342.1:c.2440T>C, XM_047442344.1:c.2440T>C, NP_068765.3:p.Tyr814His, NP_001171701.1:p.Tyr814His, NP_001366379.1:p.Tyr814His, NP_001366380.1:p.Tyr814His, XP_005262510.2:p.Tyr814His, XP_005262512.2:p.Tyr814His, XP_005262513.2:p.Tyr814His, XP_006724839.1:p.Tyr814His, XP_006724840.1:p.Tyr814His, XP_016885211.1:p.Tyr814His, XP_016885210.1:p.Tyr814His, XP_047298297.1:p.Tyr814His, XP_047298296.1:p.Tyr814His, XP_047298295.1:p.Tyr814His, XP_047298302.1:p.Tyr716His, XP_047298301.1:p.Tyr814His, XP_047298299.1:p.Tyr814His, XP_047298303.1:p.Tyr716His, XP_047298298.1:p.Tyr814His, XP_047298300.1:p.Tyr814His

    2.

    rs1488781894 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      T>A [Show Flanks]
      Chromosome:
      X:130015117 (GRCh38)
      X:129149093 (GRCh37)
      Canonical SPDI:
      NC_000023.11:130015116:T:A
      Gene:
      BCORL1 (Varview)
      Functional Consequence:
      coding_sequence_variant,missense_variant
      Clinical significance:
      pathogenic
      Validated:
      by frequency
      MAF:
      A=0.000005/1 (GnomAD_exomes)
      HGVS:
      NC_000023.11:g.130015117T>A, NC_000023.10:g.129149093T>A, NG_021274.1:g.37425T>A, NM_021946.5:c.2345T>A, NM_021946.4:c.2345T>A, NM_001184772.3:c.2345T>A, NM_001184772.2:c.2345T>A, NM_001184772.1:c.2345T>A, NM_001379450.1:c.2345T>A, NM_001379451.1:c.2345T>A, XM_005262453.5:c.2345T>A, XM_005262453.4:c.2345T>A, XM_005262453.3:c.2345T>A, XM_005262453.2:c.2345T>A, XM_005262453.1:c.2345T>A, XM_005262455.5:c.2345T>A, XM_005262455.4:c.2345T>A, XM_005262455.3:c.2345T>A, XM_005262455.2:c.2345T>A, XM_005262455.1:c.2345T>A, XM_005262456.5:c.2345T>A, XM_005262456.4:c.2345T>A, XM_005262456.3:c.2345T>A, XM_005262456.2:c.2345T>A, XM_005262456.1:c.2345T>A, XM_006724776.4:c.2345T>A, XM_006724776.3:c.2345T>A, XM_006724776.2:c.2345T>A, XM_006724776.1:c.2345T>A, XM_006724777.4:c.2345T>A, XM_006724777.3:c.2345T>A, XM_006724777.2:c.2345T>A, XM_006724777.1:c.2345T>A, XM_017029722.2:c.2345T>A, XM_017029722.1:c.2345T>A, XM_017029721.2:c.2345T>A, XM_017029721.1:c.2345T>A, XM_047442341.1:c.2345T>A, XM_047442340.1:c.2345T>A, XM_047442339.1:c.2345T>A, XM_047442346.1:c.2051T>A, XM_047442345.1:c.2345T>A, XM_047442343.1:c.2345T>A, XM_047442347.1:c.2051T>A, XM_047442342.1:c.2345T>A, XM_047442344.1:c.2345T>A, NP_068765.3:p.Val782Glu, NP_001171701.1:p.Val782Glu, NP_001366379.1:p.Val782Glu, NP_001366380.1:p.Val782Glu, XP_005262510.2:p.Val782Glu, XP_005262512.2:p.Val782Glu, XP_005262513.2:p.Val782Glu, XP_006724839.1:p.Val782Glu, XP_006724840.1:p.Val782Glu, XP_016885211.1:p.Val782Glu, XP_016885210.1:p.Val782Glu, XP_047298297.1:p.Val782Glu, XP_047298296.1:p.Val782Glu, XP_047298295.1:p.Val782Glu, XP_047298302.1:p.Val684Glu, XP_047298301.1:p.Val782Glu, XP_047298299.1:p.Val782Glu, XP_047298303.1:p.Val684Glu, XP_047298298.1:p.Val782Glu, XP_047298300.1:p.Val782Glu

      3.

      rs1488132434 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>T [Show Flanks]
        Chromosome:
        X:130050739 (GRCh38)
        X:129184714 (GRCh37)
        Canonical SPDI:
        NC_000023.11:130050738:C:T
        Gene:
        BCORL1 (Varview)
        Functional Consequence:
        coding_sequence_variant,synonymous_variant
        Validated:
        by frequency,by alfa
        MAF:
        T=0./0 (ALFA)
        HGVS:
        NC_000023.11:g.130050739C>T, NC_000023.10:g.129184714C>T, NG_021274.1:g.73046C>T, NM_021946.5:c.4641C>T, NM_021946.4:c.4641C>T, NM_001184772.3:c.4863C>T, NM_001184772.2:c.4863C>T, NM_001184772.1:c.4863C>T, NM_001379450.1:c.4863C>T, NM_001379451.1:c.4863C>T, XM_005262453.5:c.4863C>T, XM_005262453.4:c.4863C>T, XM_005262453.3:c.4863C>T, XM_005262453.2:c.4863C>T, XM_005262453.1:c.4863C>T, XM_005262455.5:c.4863C>T, XM_005262455.4:c.4863C>T, XM_005262455.3:c.4863C>T, XM_005262455.2:c.4863C>T, XM_005262455.1:c.4863C>T, XM_005262456.5:c.4473C>T, XM_005262456.4:c.4473C>T, XM_005262456.3:c.4473C>T, XM_005262456.2:c.4473C>T, XM_005262456.1:c.4473C>T, XM_006724776.4:c.4863C>T, XM_006724776.3:c.4863C>T, XM_006724776.2:c.4863C>T, XM_006724776.1:c.4863C>T, XM_006724777.4:c.4863C>T, XM_006724777.3:c.4863C>T, XM_006724777.2:c.4863C>T, XM_006724777.1:c.4863C>T, XM_017029722.2:c.4863C>T, XM_017029722.1:c.4863C>T, XM_017029721.2:c.4863C>T, XM_017029721.1:c.4863C>T, XM_047442341.1:c.4863C>T, XM_047442340.1:c.4863C>T, XM_047442339.1:c.4863C>T, XM_047442346.1:c.4569C>T, XM_047442345.1:c.4473C>T, XM_047442343.1:c.4473C>T, XM_047442347.1:c.4179C>T, XM_047442342.1:c.4473C>T, XM_047442344.1:c.4473C>T

        4.

        rs1487518842 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>C [Show Flanks]
          Chromosome:
          X:130025000 (GRCh38)
          X:129158975 (GRCh37)
          Canonical SPDI:
          NC_000023.11:130024999:T:C
          Gene:
          BCORL1 (Varview), LOC124905216 (Varview)
          Functional Consequence:
          intron_variant,upstream_transcript_variant,synonymous_variant,2KB_upstream_variant,coding_sequence_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          C=0./0 (ALFA)
          C=0.000004/1 (TOPMED)
          C=0.00001/1 (GnomAD)
          HGVS:
          NC_000023.11:g.130025000T>C, NC_000023.10:g.129158975T>C, NG_021274.1:g.47307T>C, NM_021946.5:c.3699T>C, NM_021946.4:c.3699T>C, NM_001184772.3:c.3699T>C, NM_001184772.2:c.3699T>C, NM_001184772.1:c.3699T>C, NM_001379450.1:c.3699T>C, NM_001379451.1:c.3699T>C, XM_005262453.5:c.3699T>C, XM_005262453.4:c.3699T>C, XM_005262453.3:c.3699T>C, XM_005262453.2:c.3699T>C, XM_005262453.1:c.3699T>C, XM_005262455.5:c.3699T>C, XM_005262455.4:c.3699T>C, XM_005262455.3:c.3699T>C, XM_005262455.2:c.3699T>C, XM_005262455.1:c.3699T>C, XM_006724776.4:c.3699T>C, XM_006724776.3:c.3699T>C, XM_006724776.2:c.3699T>C, XM_006724776.1:c.3699T>C, XM_006724777.4:c.3699T>C, XM_006724777.3:c.3699T>C, XM_006724777.2:c.3699T>C, XM_006724777.1:c.3699T>C, XM_017029722.2:c.3699T>C, XM_017029722.1:c.3699T>C, XM_017029721.2:c.3699T>C, XM_017029721.1:c.3699T>C, XM_047442341.1:c.3699T>C, XM_047442340.1:c.3699T>C, XM_047442339.1:c.3699T>C, XM_047442346.1:c.3405T>C

          5.

          rs1487409050 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A,C [Show Flanks]
            Chromosome:
            X:130034566 (GRCh38)
            X:129168541 (GRCh37)
            Canonical SPDI:
            NC_000023.11:130034565:G:A,NC_000023.11:130034565:G:C
            Gene:
            BCORL1 (Varview)
            Functional Consequence:
            intron_variant,coding_sequence_variant,missense_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            C=0./0 (ALFA)
            C=0.000009/1 (GnomAD_exomes)
            C=0.000015/4 (TOPMED)
            HGVS:
            NC_000023.11:g.130034566G>A, NC_000023.11:g.130034566G>C, NC_000023.10:g.129168541G>A, NC_000023.10:g.129168541G>C, NG_021274.1:g.56873G>A, NG_021274.1:g.56873G>C, NM_001184772.3:c.4417G>A, NM_001184772.3:c.4417G>C, NM_001184772.2:c.4417G>A, NM_001184772.2:c.4417G>C, NM_001184772.1:c.4417G>A, NM_001184772.1:c.4417G>C, NM_001379450.1:c.4417G>A, NM_001379450.1:c.4417G>C, NM_001379451.1:c.4417G>A, NM_001379451.1:c.4417G>C, XM_005262453.5:c.4417G>A, XM_005262453.5:c.4417G>C, XM_005262453.4:c.4417G>A, XM_005262453.4:c.4417G>C, XM_005262453.3:c.4417G>A, XM_005262453.3:c.4417G>C, XM_005262453.2:c.4417G>A, XM_005262453.2:c.4417G>C, XM_005262453.1:c.4417G>A, XM_005262453.1:c.4417G>C, XM_005262455.5:c.4417G>A, XM_005262455.5:c.4417G>C, XM_005262455.4:c.4417G>A, XM_005262455.4:c.4417G>C, XM_005262455.3:c.4417G>A, XM_005262455.3:c.4417G>C, XM_005262455.2:c.4417G>A, XM_005262455.2:c.4417G>C, XM_005262455.1:c.4417G>A, XM_005262455.1:c.4417G>C, XM_005262456.5:c.4027G>A, XM_005262456.5:c.4027G>C, XM_005262456.4:c.4027G>A, XM_005262456.4:c.4027G>C, XM_005262456.3:c.4027G>A, XM_005262456.3:c.4027G>C, XM_005262456.2:c.4027G>A, XM_005262456.2:c.4027G>C, XM_005262456.1:c.4027G>A, XM_005262456.1:c.4027G>C, XM_006724776.4:c.4417G>A, XM_006724776.4:c.4417G>C, XM_006724776.3:c.4417G>A, XM_006724776.3:c.4417G>C, XM_006724776.2:c.4417G>A, XM_006724776.2:c.4417G>C, XM_006724776.1:c.4417G>A, XM_006724776.1:c.4417G>C, XM_006724777.4:c.4417G>A, XM_006724777.4:c.4417G>C, XM_006724777.3:c.4417G>A, XM_006724777.3:c.4417G>C, XM_006724777.2:c.4417G>A, XM_006724777.2:c.4417G>C, XM_006724777.1:c.4417G>A, XM_006724777.1:c.4417G>C, XM_017029722.2:c.4417G>A, XM_017029722.2:c.4417G>C, XM_017029722.1:c.4417G>A, XM_017029722.1:c.4417G>C, XM_017029721.2:c.4417G>A, XM_017029721.2:c.4417G>C, XM_017029721.1:c.4417G>A, XM_017029721.1:c.4417G>C, XM_047442341.1:c.4417G>A, XM_047442341.1:c.4417G>C, XM_047442340.1:c.4417G>A, XM_047442340.1:c.4417G>C, XM_047442339.1:c.4417G>A, XM_047442339.1:c.4417G>C, XM_047442346.1:c.4123G>A, XM_047442346.1:c.4123G>C, XM_047442345.1:c.4027G>A, XM_047442345.1:c.4027G>C, XM_047442343.1:c.4027G>A, XM_047442343.1:c.4027G>C, XM_047442347.1:c.3733G>A, XM_047442347.1:c.3733G>C, XM_047442342.1:c.4027G>A, XM_047442342.1:c.4027G>C, XM_047442344.1:c.4027G>A, XM_047442344.1:c.4027G>C, NP_001171701.1:p.Ala1473Thr, NP_001171701.1:p.Ala1473Pro, NP_001366379.1:p.Ala1473Thr, NP_001366379.1:p.Ala1473Pro, NP_001366380.1:p.Ala1473Thr, NP_001366380.1:p.Ala1473Pro, XP_005262510.2:p.Ala1473Thr, XP_005262510.2:p.Ala1473Pro, XP_005262512.2:p.Ala1473Thr, XP_005262512.2:p.Ala1473Pro, XP_005262513.2:p.Ala1343Thr, XP_005262513.2:p.Ala1343Pro, XP_006724839.1:p.Ala1473Thr, XP_006724839.1:p.Ala1473Pro, XP_006724840.1:p.Ala1473Thr, XP_006724840.1:p.Ala1473Pro, XP_016885211.1:p.Ala1473Thr, XP_016885211.1:p.Ala1473Pro, XP_016885210.1:p.Ala1473Thr, XP_016885210.1:p.Ala1473Pro, XP_047298297.1:p.Ala1473Thr, XP_047298297.1:p.Ala1473Pro, XP_047298296.1:p.Ala1473Thr, XP_047298296.1:p.Ala1473Pro, XP_047298295.1:p.Ala1473Thr, XP_047298295.1:p.Ala1473Pro, XP_047298302.1:p.Ala1375Thr, XP_047298302.1:p.Ala1375Pro, XP_047298301.1:p.Ala1343Thr, XP_047298301.1:p.Ala1343Pro, XP_047298299.1:p.Ala1343Thr, XP_047298299.1:p.Ala1343Pro, XP_047298303.1:p.Ala1245Thr, XP_047298303.1:p.Ala1245Pro, XP_047298298.1:p.Ala1343Thr, XP_047298298.1:p.Ala1343Pro, XP_047298300.1:p.Ala1343Thr, XP_047298300.1:p.Ala1343Pro

            6.

            rs1486955570 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A [Show Flanks]
              Chromosome:
              X:130022944 (GRCh38)
              X:129156919 (GRCh37)
              Canonical SPDI:
              NC_000023.11:130022943:G:A
              Gene:
              BCORL1 (Varview), LOC124905216 (Varview)
              Functional Consequence:
              coding_sequence_variant,missense_variant,non_coding_transcript_variant
              Validated:
              by frequency
              MAF:
              A=0.000005/1 (GnomAD_exomes)
              HGVS:
              NC_000023.11:g.130022944G>A, NC_000023.10:g.129156919G>A, NG_021274.1:g.45251G>A, NM_021946.5:c.3655G>A, NM_021946.4:c.3655G>A, NM_001184772.3:c.3655G>A, NM_001184772.2:c.3655G>A, NM_001184772.1:c.3655G>A, NM_001379450.1:c.3655G>A, NM_001379451.1:c.3655G>A, XM_005262453.5:c.3655G>A, XM_005262453.4:c.3655G>A, XM_005262453.3:c.3655G>A, XM_005262453.2:c.3655G>A, XM_005262453.1:c.3655G>A, XM_005262455.5:c.3655G>A, XM_005262455.4:c.3655G>A, XM_005262455.3:c.3655G>A, XM_005262455.2:c.3655G>A, XM_005262455.1:c.3655G>A, XM_005262456.5:c.3655G>A, XM_005262456.4:c.3655G>A, XM_005262456.3:c.3655G>A, XM_005262456.2:c.3655G>A, XM_005262456.1:c.3655G>A, XM_006724776.4:c.3655G>A, XM_006724776.3:c.3655G>A, XM_006724776.2:c.3655G>A, XM_006724776.1:c.3655G>A, XM_006724777.4:c.3655G>A, XM_006724777.3:c.3655G>A, XM_006724777.2:c.3655G>A, XM_006724777.1:c.3655G>A, XM_017029722.2:c.3655G>A, XM_017029722.1:c.3655G>A, XM_017029721.2:c.3655G>A, XM_017029721.1:c.3655G>A, XM_047442341.1:c.3655G>A, XM_047442340.1:c.3655G>A, XM_047442339.1:c.3655G>A, XM_047442346.1:c.3361G>A, XM_047442345.1:c.3655G>A, XM_047442343.1:c.3655G>A, XM_047442347.1:c.3361G>A, XM_047442342.1:c.3655G>A, XM_047442344.1:c.3655G>A, XR_007068333.1:n.215C>T, NP_068765.3:p.Val1219Met, NP_001171701.1:p.Val1219Met, NP_001366379.1:p.Val1219Met, NP_001366380.1:p.Val1219Met, XP_005262510.2:p.Val1219Met, XP_005262512.2:p.Val1219Met, XP_005262513.2:p.Val1219Met, XP_006724839.1:p.Val1219Met, XP_006724840.1:p.Val1219Met, XP_016885211.1:p.Val1219Met, XP_016885210.1:p.Val1219Met, XP_047298297.1:p.Val1219Met, XP_047298296.1:p.Val1219Met, XP_047298295.1:p.Val1219Met, XP_047298302.1:p.Val1121Met, XP_047298301.1:p.Val1219Met, XP_047298299.1:p.Val1219Met, XP_047298303.1:p.Val1121Met, XP_047298298.1:p.Val1219Met, XP_047298300.1:p.Val1219Met

              7.

              rs1486476200 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>C [Show Flanks]
                Chromosome:
                X:130013086 (GRCh38)
                X:129147062 (GRCh37)
                Canonical SPDI:
                NC_000023.11:130013085:T:C
                Gene:
                BCORL1 (Varview)
                Functional Consequence:
                coding_sequence_variant,missense_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                C=0./0 (ALFA)
                C=0./0 (GnomAD)
                HGVS:
                NC_000023.11:g.130013086T>C, NC_000023.10:g.129147062T>C, NG_021274.1:g.35394T>C, NM_021946.5:c.314T>C, NM_021946.4:c.314T>C, NM_001184772.3:c.314T>C, NM_001184772.2:c.314T>C, NM_001184772.1:c.314T>C, NM_001379450.1:c.314T>C, NM_001379451.1:c.314T>C, XM_005262453.5:c.314T>C, XM_005262453.4:c.314T>C, XM_005262453.3:c.314T>C, XM_005262453.2:c.314T>C, XM_005262453.1:c.314T>C, XM_005262455.5:c.314T>C, XM_005262455.4:c.314T>C, XM_005262455.3:c.314T>C, XM_005262455.2:c.314T>C, XM_005262455.1:c.314T>C, XM_005262456.5:c.314T>C, XM_005262456.4:c.314T>C, XM_005262456.3:c.314T>C, XM_005262456.2:c.314T>C, XM_005262456.1:c.314T>C, XM_006724776.4:c.314T>C, XM_006724776.3:c.314T>C, XM_006724776.2:c.314T>C, XM_006724776.1:c.314T>C, XM_006724777.4:c.314T>C, XM_006724777.3:c.314T>C, XM_006724777.2:c.314T>C, XM_006724777.1:c.314T>C, XM_017029722.2:c.314T>C, XM_017029722.1:c.314T>C, XM_017029721.2:c.314T>C, XM_017029721.1:c.314T>C, XM_047442341.1:c.314T>C, XM_047442340.1:c.314T>C, XM_047442339.1:c.314T>C, XM_047442346.1:c.20T>C, XM_047442345.1:c.314T>C, XM_047442343.1:c.314T>C, XM_047442347.1:c.20T>C, XM_047442342.1:c.314T>C, XM_047442344.1:c.314T>C, NP_068765.3:p.Val105Ala, NP_001171701.1:p.Val105Ala, NP_001366379.1:p.Val105Ala, NP_001366380.1:p.Val105Ala, XP_005262510.2:p.Val105Ala, XP_005262512.2:p.Val105Ala, XP_005262513.2:p.Val105Ala, XP_006724839.1:p.Val105Ala, XP_006724840.1:p.Val105Ala, XP_016885211.1:p.Val105Ala, XP_016885210.1:p.Val105Ala, XP_047298297.1:p.Val105Ala, XP_047298296.1:p.Val105Ala, XP_047298295.1:p.Val105Ala, XP_047298302.1:p.Val7Ala, XP_047298301.1:p.Val105Ala, XP_047298299.1:p.Val105Ala, XP_047298303.1:p.Val7Ala, XP_047298298.1:p.Val105Ala, XP_047298300.1:p.Val105Ala

                8.

                rs1486422955 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A [Show Flanks]
                  Chromosome:
                  X:130012582 (GRCh38)
                  X:129146558 (GRCh37)
                  Canonical SPDI:
                  NC_000023.11:130012581:G:A
                  Gene:
                  BCORL1 (Varview)
                  Functional Consequence:
                  coding_sequence_variant,missense_variant,5_prime_UTR_variant
                  Validated:
                  by frequency
                  MAF:
                  A=0.000005/1 (GnomAD_exomes)
                  HGVS:
                  NC_000023.11:g.130012582G>A, NC_000023.10:g.129146558G>A, NG_021274.1:g.34890G>A, NM_021946.5:c.91G>A, NM_021946.4:c.91G>A, NM_001184772.3:c.91G>A, NM_001184772.2:c.91G>A, NM_001184772.1:c.91G>A, NM_001379450.1:c.91G>A, NM_001379451.1:c.91G>A, XM_005262453.5:c.91G>A, XM_005262453.4:c.91G>A, XM_005262453.3:c.91G>A, XM_005262453.2:c.91G>A, XM_005262453.1:c.91G>A, XM_005262455.5:c.91G>A, XM_005262455.4:c.91G>A, XM_005262455.3:c.91G>A, XM_005262455.2:c.91G>A, XM_005262455.1:c.91G>A, XM_005262456.5:c.91G>A, XM_005262456.4:c.91G>A, XM_005262456.3:c.91G>A, XM_005262456.2:c.91G>A, XM_005262456.1:c.91G>A, XM_006724776.4:c.91G>A, XM_006724776.3:c.91G>A, XM_006724776.2:c.91G>A, XM_006724776.1:c.91G>A, XM_006724777.4:c.91G>A, XM_006724777.3:c.91G>A, XM_006724777.2:c.91G>A, XM_006724777.1:c.91G>A, XM_017029722.2:c.91G>A, XM_017029722.1:c.91G>A, XM_017029721.2:c.91G>A, XM_017029721.1:c.91G>A, XM_047442341.1:c.91G>A, XM_047442340.1:c.91G>A, XM_047442339.1:c.91G>A, XM_047442346.1:c.-204G>A, XM_047442345.1:c.91G>A, XM_047442343.1:c.91G>A, XM_047442347.1:c.-204G>A, XM_047442342.1:c.91G>A, XM_047442344.1:c.91G>A, NP_068765.3:p.Ala31Thr, NP_001171701.1:p.Ala31Thr, NP_001366379.1:p.Ala31Thr, NP_001366380.1:p.Ala31Thr, XP_005262510.2:p.Ala31Thr, XP_005262512.2:p.Ala31Thr, XP_005262513.2:p.Ala31Thr, XP_006724839.1:p.Ala31Thr, XP_006724840.1:p.Ala31Thr, XP_016885211.1:p.Ala31Thr, XP_016885210.1:p.Ala31Thr, XP_047298297.1:p.Ala31Thr, XP_047298296.1:p.Ala31Thr, XP_047298295.1:p.Ala31Thr, XP_047298301.1:p.Ala31Thr, XP_047298299.1:p.Ala31Thr, XP_047298298.1:p.Ala31Thr, XP_047298300.1:p.Ala31Thr

                  9.

                  rs1485625067 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A [Show Flanks]
                    Chromosome:
                    X:130014231 (GRCh38)
                    X:129148207 (GRCh37)
                    Canonical SPDI:
                    NC_000023.11:130014230:G:A
                    Gene:
                    BCORL1 (Varview)
                    Functional Consequence:
                    coding_sequence_variant,missense_variant
                    Validated:
                    by frequency
                    MAF:
                    A=0.000005/1 (GnomAD_exomes)
                    HGVS:
                    NC_000023.11:g.130014231G>A, NC_000023.10:g.129148207G>A, NG_021274.1:g.36539G>A, NM_021946.5:c.1459G>A, NM_021946.4:c.1459G>A, NM_001184772.3:c.1459G>A, NM_001184772.2:c.1459G>A, NM_001184772.1:c.1459G>A, NM_001379450.1:c.1459G>A, NM_001379451.1:c.1459G>A, XM_005262453.5:c.1459G>A, XM_005262453.4:c.1459G>A, XM_005262453.3:c.1459G>A, XM_005262453.2:c.1459G>A, XM_005262453.1:c.1459G>A, XM_005262455.5:c.1459G>A, XM_005262455.4:c.1459G>A, XM_005262455.3:c.1459G>A, XM_005262455.2:c.1459G>A, XM_005262455.1:c.1459G>A, XM_005262456.5:c.1459G>A, XM_005262456.4:c.1459G>A, XM_005262456.3:c.1459G>A, XM_005262456.2:c.1459G>A, XM_005262456.1:c.1459G>A, XM_006724776.4:c.1459G>A, XM_006724776.3:c.1459G>A, XM_006724776.2:c.1459G>A, XM_006724776.1:c.1459G>A, XM_006724777.4:c.1459G>A, XM_006724777.3:c.1459G>A, XM_006724777.2:c.1459G>A, XM_006724777.1:c.1459G>A, XM_017029722.2:c.1459G>A, XM_017029722.1:c.1459G>A, XM_017029721.2:c.1459G>A, XM_017029721.1:c.1459G>A, XM_047442341.1:c.1459G>A, XM_047442340.1:c.1459G>A, XM_047442339.1:c.1459G>A, XM_047442346.1:c.1165G>A, XM_047442345.1:c.1459G>A, XM_047442343.1:c.1459G>A, XM_047442347.1:c.1165G>A, XM_047442342.1:c.1459G>A, XM_047442344.1:c.1459G>A, NP_068765.3:p.Asp487Asn, NP_001171701.1:p.Asp487Asn, NP_001366379.1:p.Asp487Asn, NP_001366380.1:p.Asp487Asn, XP_005262510.2:p.Asp487Asn, XP_005262512.2:p.Asp487Asn, XP_005262513.2:p.Asp487Asn, XP_006724839.1:p.Asp487Asn, XP_006724840.1:p.Asp487Asn, XP_016885211.1:p.Asp487Asn, XP_016885210.1:p.Asp487Asn, XP_047298297.1:p.Asp487Asn, XP_047298296.1:p.Asp487Asn, XP_047298295.1:p.Asp487Asn, XP_047298302.1:p.Asp389Asn, XP_047298301.1:p.Asp487Asn, XP_047298299.1:p.Asp487Asn, XP_047298303.1:p.Asp389Asn, XP_047298298.1:p.Asp487Asn, XP_047298300.1:p.Asp487Asn

                    10.

                    rs1485278536 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A [Show Flanks]
                      Chromosome:
                      X:130014606 (GRCh38)
                      X:129148582 (GRCh37)
                      Canonical SPDI:
                      NC_000023.11:130014605:G:A
                      Gene:
                      BCORL1 (Varview)
                      Functional Consequence:
                      coding_sequence_variant,missense_variant
                      Validated:
                      by frequency
                      MAF:
                      A=0.000005/1 (GnomAD_exomes)
                      HGVS:
                      NC_000023.11:g.130014606G>A, NC_000023.10:g.129148582G>A, NG_021274.1:g.36914G>A, NM_021946.5:c.1834G>A, NM_021946.4:c.1834G>A, NM_001184772.3:c.1834G>A, NM_001184772.2:c.1834G>A, NM_001184772.1:c.1834G>A, NM_001379450.1:c.1834G>A, NM_001379451.1:c.1834G>A, XM_005262453.5:c.1834G>A, XM_005262453.4:c.1834G>A, XM_005262453.3:c.1834G>A, XM_005262453.2:c.1834G>A, XM_005262453.1:c.1834G>A, XM_005262455.5:c.1834G>A, XM_005262455.4:c.1834G>A, XM_005262455.3:c.1834G>A, XM_005262455.2:c.1834G>A, XM_005262455.1:c.1834G>A, XM_005262456.5:c.1834G>A, XM_005262456.4:c.1834G>A, XM_005262456.3:c.1834G>A, XM_005262456.2:c.1834G>A, XM_005262456.1:c.1834G>A, XM_006724776.4:c.1834G>A, XM_006724776.3:c.1834G>A, XM_006724776.2:c.1834G>A, XM_006724776.1:c.1834G>A, XM_006724777.4:c.1834G>A, XM_006724777.3:c.1834G>A, XM_006724777.2:c.1834G>A, XM_006724777.1:c.1834G>A, XM_017029722.2:c.1834G>A, XM_017029722.1:c.1834G>A, XM_017029721.2:c.1834G>A, XM_017029721.1:c.1834G>A, XM_047442341.1:c.1834G>A, XM_047442340.1:c.1834G>A, XM_047442339.1:c.1834G>A, XM_047442346.1:c.1540G>A, XM_047442345.1:c.1834G>A, XM_047442343.1:c.1834G>A, XM_047442347.1:c.1540G>A, XM_047442342.1:c.1834G>A, XM_047442344.1:c.1834G>A, NP_068765.3:p.Ala612Thr, NP_001171701.1:p.Ala612Thr, NP_001366379.1:p.Ala612Thr, NP_001366380.1:p.Ala612Thr, XP_005262510.2:p.Ala612Thr, XP_005262512.2:p.Ala612Thr, XP_005262513.2:p.Ala612Thr, XP_006724839.1:p.Ala612Thr, XP_006724840.1:p.Ala612Thr, XP_016885211.1:p.Ala612Thr, XP_016885210.1:p.Ala612Thr, XP_047298297.1:p.Ala612Thr, XP_047298296.1:p.Ala612Thr, XP_047298295.1:p.Ala612Thr, XP_047298302.1:p.Ala514Thr, XP_047298301.1:p.Ala612Thr, XP_047298299.1:p.Ala612Thr, XP_047298303.1:p.Ala514Thr, XP_047298298.1:p.Ala612Thr, XP_047298300.1:p.Ala612Thr

                      11.

                      rs1484129390 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>A [Show Flanks]
                        Chromosome:
                        X:130014755 (GRCh38)
                        X:129148731 (GRCh37)
                        Canonical SPDI:
                        NC_000023.11:130014754:C:A
                        Gene:
                        BCORL1 (Varview)
                        Functional Consequence:
                        coding_sequence_variant,synonymous_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        A=0.000111/1 (ALFA)
                        A=0.000005/1 (GnomAD_exomes)
                        HGVS:
                        NC_000023.11:g.130014755C>A, NC_000023.10:g.129148731C>A, NG_021274.1:g.37063C>A, NM_021946.5:c.1983C>A, NM_021946.4:c.1983C>A, NM_001184772.3:c.1983C>A, NM_001184772.2:c.1983C>A, NM_001184772.1:c.1983C>A, NM_001379450.1:c.1983C>A, NM_001379451.1:c.1983C>A, XM_005262453.5:c.1983C>A, XM_005262453.4:c.1983C>A, XM_005262453.3:c.1983C>A, XM_005262453.2:c.1983C>A, XM_005262453.1:c.1983C>A, XM_005262455.5:c.1983C>A, XM_005262455.4:c.1983C>A, XM_005262455.3:c.1983C>A, XM_005262455.2:c.1983C>A, XM_005262455.1:c.1983C>A, XM_005262456.5:c.1983C>A, XM_005262456.4:c.1983C>A, XM_005262456.3:c.1983C>A, XM_005262456.2:c.1983C>A, XM_005262456.1:c.1983C>A, XM_006724776.4:c.1983C>A, XM_006724776.3:c.1983C>A, XM_006724776.2:c.1983C>A, XM_006724776.1:c.1983C>A, XM_006724777.4:c.1983C>A, XM_006724777.3:c.1983C>A, XM_006724777.2:c.1983C>A, XM_006724777.1:c.1983C>A, XM_017029722.2:c.1983C>A, XM_017029722.1:c.1983C>A, XM_017029721.2:c.1983C>A, XM_017029721.1:c.1983C>A, XM_047442341.1:c.1983C>A, XM_047442340.1:c.1983C>A, XM_047442339.1:c.1983C>A, XM_047442346.1:c.1689C>A, XM_047442345.1:c.1983C>A, XM_047442343.1:c.1983C>A, XM_047442347.1:c.1689C>A, XM_047442342.1:c.1983C>A, XM_047442344.1:c.1983C>A

                        12.

                        rs1482281823 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A [Show Flanks]
                          Chromosome:
                          X:130013333 (GRCh38)
                          X:129147309 (GRCh37)
                          Canonical SPDI:
                          NC_000023.11:130013332:G:A
                          Gene:
                          BCORL1 (Varview)
                          Functional Consequence:
                          coding_sequence_variant,synonymous_variant
                          Validated:
                          by frequency
                          MAF:
                          A=0.000005/1 (GnomAD_exomes)
                          HGVS:
                          NC_000023.11:g.130013333G>A, NC_000023.10:g.129147309G>A, NG_021274.1:g.35641G>A, NM_021946.5:c.561G>A, NM_021946.4:c.561G>A, NM_001184772.3:c.561G>A, NM_001184772.2:c.561G>A, NM_001184772.1:c.561G>A, NM_001379450.1:c.561G>A, NM_001379451.1:c.561G>A, XM_005262453.5:c.561G>A, XM_005262453.4:c.561G>A, XM_005262453.3:c.561G>A, XM_005262453.2:c.561G>A, XM_005262453.1:c.561G>A, XM_005262455.5:c.561G>A, XM_005262455.4:c.561G>A, XM_005262455.3:c.561G>A, XM_005262455.2:c.561G>A, XM_005262455.1:c.561G>A, XM_005262456.5:c.561G>A, XM_005262456.4:c.561G>A, XM_005262456.3:c.561G>A, XM_005262456.2:c.561G>A, XM_005262456.1:c.561G>A, XM_006724776.4:c.561G>A, XM_006724776.3:c.561G>A, XM_006724776.2:c.561G>A, XM_006724776.1:c.561G>A, XM_006724777.4:c.561G>A, XM_006724777.3:c.561G>A, XM_006724777.2:c.561G>A, XM_006724777.1:c.561G>A, XM_017029722.2:c.561G>A, XM_017029722.1:c.561G>A, XM_017029721.2:c.561G>A, XM_017029721.1:c.561G>A, XM_047442341.1:c.561G>A, XM_047442340.1:c.561G>A, XM_047442339.1:c.561G>A, XM_047442346.1:c.267G>A, XM_047442345.1:c.561G>A, XM_047442343.1:c.561G>A, XM_047442347.1:c.267G>A, XM_047442342.1:c.561G>A, XM_047442344.1:c.561G>A

                          13.

                          rs1481937183 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>G [Show Flanks]
                            Chromosome:
                            X:130013432 (GRCh38)
                            X:129147408 (GRCh37)
                            Canonical SPDI:
                            NC_000023.11:130013431:A:G
                            Gene:
                            BCORL1 (Varview)
                            Functional Consequence:
                            coding_sequence_variant,synonymous_variant
                            Validated:
                            by frequency
                            MAF:
                            G=0.000011/2 (GnomAD_exomes)
                            HGVS:
                            NC_000023.11:g.130013432A>G, NC_000023.10:g.129147408A>G, NG_021274.1:g.35740A>G, NM_021946.5:c.660A>G, NM_021946.4:c.660A>G, NM_001184772.3:c.660A>G, NM_001184772.2:c.660A>G, NM_001184772.1:c.660A>G, NM_001379450.1:c.660A>G, NM_001379451.1:c.660A>G, XM_005262453.5:c.660A>G, XM_005262453.4:c.660A>G, XM_005262453.3:c.660A>G, XM_005262453.2:c.660A>G, XM_005262453.1:c.660A>G, XM_005262455.5:c.660A>G, XM_005262455.4:c.660A>G, XM_005262455.3:c.660A>G, XM_005262455.2:c.660A>G, XM_005262455.1:c.660A>G, XM_005262456.5:c.660A>G, XM_005262456.4:c.660A>G, XM_005262456.3:c.660A>G, XM_005262456.2:c.660A>G, XM_005262456.1:c.660A>G, XM_006724776.4:c.660A>G, XM_006724776.3:c.660A>G, XM_006724776.2:c.660A>G, XM_006724776.1:c.660A>G, XM_006724777.4:c.660A>G, XM_006724777.3:c.660A>G, XM_006724777.2:c.660A>G, XM_006724777.1:c.660A>G, XM_017029722.2:c.660A>G, XM_017029722.1:c.660A>G, XM_017029721.2:c.660A>G, XM_017029721.1:c.660A>G, XM_047442341.1:c.660A>G, XM_047442340.1:c.660A>G, XM_047442339.1:c.660A>G, XM_047442346.1:c.366A>G, XM_047442345.1:c.660A>G, XM_047442343.1:c.660A>G, XM_047442347.1:c.366A>G, XM_047442342.1:c.660A>G, XM_047442344.1:c.660A>G

                            14.

                            rs1480898193 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>C [Show Flanks]
                              Chromosome:
                              X:130013822 (GRCh38)
                              X:129147798 (GRCh37)
                              Canonical SPDI:
                              NC_000023.11:130013821:T:C
                              Gene:
                              BCORL1 (Varview)
                              Functional Consequence:
                              coding_sequence_variant,synonymous_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              C=0./0 (ALFA)
                              C=0.000009/1 (GnomAD_exomes)
                              HGVS:
                              NC_000023.11:g.130013822T>C, NC_000023.10:g.129147798T>C, NG_021274.1:g.36130T>C, NM_021946.5:c.1050T>C, NM_021946.4:c.1050T>C, NM_001184772.3:c.1050T>C, NM_001184772.2:c.1050T>C, NM_001184772.1:c.1050T>C, NM_001379450.1:c.1050T>C, NM_001379451.1:c.1050T>C, XM_005262453.5:c.1050T>C, XM_005262453.4:c.1050T>C, XM_005262453.3:c.1050T>C, XM_005262453.2:c.1050T>C, XM_005262453.1:c.1050T>C, XM_005262455.5:c.1050T>C, XM_005262455.4:c.1050T>C, XM_005262455.3:c.1050T>C, XM_005262455.2:c.1050T>C, XM_005262455.1:c.1050T>C, XM_005262456.5:c.1050T>C, XM_005262456.4:c.1050T>C, XM_005262456.3:c.1050T>C, XM_005262456.2:c.1050T>C, XM_005262456.1:c.1050T>C, XM_006724776.4:c.1050T>C, XM_006724776.3:c.1050T>C, XM_006724776.2:c.1050T>C, XM_006724776.1:c.1050T>C, XM_006724777.4:c.1050T>C, XM_006724777.3:c.1050T>C, XM_006724777.2:c.1050T>C, XM_006724777.1:c.1050T>C, XM_017029722.2:c.1050T>C, XM_017029722.1:c.1050T>C, XM_017029721.2:c.1050T>C, XM_017029721.1:c.1050T>C, XM_047442341.1:c.1050T>C, XM_047442340.1:c.1050T>C, XM_047442339.1:c.1050T>C, XM_047442346.1:c.756T>C, XM_047442345.1:c.1050T>C, XM_047442343.1:c.1050T>C, XM_047442347.1:c.756T>C, XM_047442342.1:c.1050T>C, XM_047442344.1:c.1050T>C

                              15.

                              rs1480843885 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>T [Show Flanks]
                                Chromosome:
                                X:130014233 (GRCh38)
                                X:129148209 (GRCh37)
                                Canonical SPDI:
                                NC_000023.11:130014232:C:T
                                Gene:
                                BCORL1 (Varview)
                                Functional Consequence:
                                coding_sequence_variant,synonymous_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                T=0./0 (ALFA)
                                T=0.000019/5 (TOPMED)
                                T=0.000029/3 (GnomAD)
                                HGVS:
                                NC_000023.11:g.130014233C>T, NC_000023.10:g.129148209C>T, NG_021274.1:g.36541C>T, NM_021946.5:c.1461C>T, NM_021946.4:c.1461C>T, NM_001184772.3:c.1461C>T, NM_001184772.2:c.1461C>T, NM_001184772.1:c.1461C>T, NM_001379450.1:c.1461C>T, NM_001379451.1:c.1461C>T, XM_005262453.5:c.1461C>T, XM_005262453.4:c.1461C>T, XM_005262453.3:c.1461C>T, XM_005262453.2:c.1461C>T, XM_005262453.1:c.1461C>T, XM_005262455.5:c.1461C>T, XM_005262455.4:c.1461C>T, XM_005262455.3:c.1461C>T, XM_005262455.2:c.1461C>T, XM_005262455.1:c.1461C>T, XM_005262456.5:c.1461C>T, XM_005262456.4:c.1461C>T, XM_005262456.3:c.1461C>T, XM_005262456.2:c.1461C>T, XM_005262456.1:c.1461C>T, XM_006724776.4:c.1461C>T, XM_006724776.3:c.1461C>T, XM_006724776.2:c.1461C>T, XM_006724776.1:c.1461C>T, XM_006724777.4:c.1461C>T, XM_006724777.3:c.1461C>T, XM_006724777.2:c.1461C>T, XM_006724777.1:c.1461C>T, XM_017029722.2:c.1461C>T, XM_017029722.1:c.1461C>T, XM_017029721.2:c.1461C>T, XM_017029721.1:c.1461C>T, XM_047442341.1:c.1461C>T, XM_047442340.1:c.1461C>T, XM_047442339.1:c.1461C>T, XM_047442346.1:c.1167C>T, XM_047442345.1:c.1461C>T, XM_047442343.1:c.1461C>T, XM_047442347.1:c.1167C>T, XM_047442342.1:c.1461C>T, XM_047442344.1:c.1461C>T

                                16.

                                rs1480666424 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>G [Show Flanks]
                                  Chromosome:
                                  X:130016160 (GRCh38)
                                  X:129150136 (GRCh37)
                                  Canonical SPDI:
                                  NC_000023.11:130016159:C:G
                                  Gene:
                                  BCORL1 (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,missense_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  G=0./0 (ALFA)
                                  G=0.000004/1 (TOPMED)
                                  G=0.00001/1 (GnomAD)
                                  HGVS:
                                  NC_000023.11:g.130016160C>G, NC_000023.10:g.129150136C>G, NG_021274.1:g.38468C>G, NM_021946.5:c.3388C>G, NM_021946.4:c.3388C>G, NM_001184772.3:c.3388C>G, NM_001184772.2:c.3388C>G, NM_001184772.1:c.3388C>G, NM_001379450.1:c.3388C>G, NM_001379451.1:c.3388C>G, XM_005262453.5:c.3388C>G, XM_005262453.4:c.3388C>G, XM_005262453.3:c.3388C>G, XM_005262453.2:c.3388C>G, XM_005262453.1:c.3388C>G, XM_005262455.5:c.3388C>G, XM_005262455.4:c.3388C>G, XM_005262455.3:c.3388C>G, XM_005262455.2:c.3388C>G, XM_005262455.1:c.3388C>G, XM_005262456.5:c.3388C>G, XM_005262456.4:c.3388C>G, XM_005262456.3:c.3388C>G, XM_005262456.2:c.3388C>G, XM_005262456.1:c.3388C>G, XM_006724776.4:c.3388C>G, XM_006724776.3:c.3388C>G, XM_006724776.2:c.3388C>G, XM_006724776.1:c.3388C>G, XM_006724777.4:c.3388C>G, XM_006724777.3:c.3388C>G, XM_006724777.2:c.3388C>G, XM_006724777.1:c.3388C>G, XM_017029722.2:c.3388C>G, XM_017029722.1:c.3388C>G, XM_017029721.2:c.3388C>G, XM_017029721.1:c.3388C>G, XM_047442341.1:c.3388C>G, XM_047442340.1:c.3388C>G, XM_047442339.1:c.3388C>G, XM_047442346.1:c.3094C>G, XM_047442345.1:c.3388C>G, XM_047442343.1:c.3388C>G, XM_047442347.1:c.3094C>G, XM_047442342.1:c.3388C>G, XM_047442344.1:c.3388C>G, NP_068765.3:p.Gln1130Glu, NP_001171701.1:p.Gln1130Glu, NP_001366379.1:p.Gln1130Glu, NP_001366380.1:p.Gln1130Glu, XP_005262510.2:p.Gln1130Glu, XP_005262512.2:p.Gln1130Glu, XP_005262513.2:p.Gln1130Glu, XP_006724839.1:p.Gln1130Glu, XP_006724840.1:p.Gln1130Glu, XP_016885211.1:p.Gln1130Glu, XP_016885210.1:p.Gln1130Glu, XP_047298297.1:p.Gln1130Glu, XP_047298296.1:p.Gln1130Glu, XP_047298295.1:p.Gln1130Glu, XP_047298302.1:p.Gln1032Glu, XP_047298301.1:p.Gln1130Glu, XP_047298299.1:p.Gln1130Glu, XP_047298303.1:p.Gln1032Glu, XP_047298298.1:p.Gln1130Glu, XP_047298300.1:p.Gln1130Glu

                                  17.

                                  rs1480419620 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>T [Show Flanks]
                                    Chromosome:
                                    X:130014866 (GRCh38)
                                    X:129148842 (GRCh37)
                                    Canonical SPDI:
                                    NC_000023.11:130014865:C:T
                                    Gene:
                                    BCORL1 (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,synonymous_variant
                                    Validated:
                                    by frequency
                                    MAF:
                                    T=0.000005/1 (GnomAD_exomes)
                                    HGVS:
                                    NC_000023.11:g.130014866C>T, NC_000023.10:g.129148842C>T, NG_021274.1:g.37174C>T, NM_021946.5:c.2094C>T, NM_021946.4:c.2094C>T, NM_001184772.3:c.2094C>T, NM_001184772.2:c.2094C>T, NM_001184772.1:c.2094C>T, NM_001379450.1:c.2094C>T, NM_001379451.1:c.2094C>T, XM_005262453.5:c.2094C>T, XM_005262453.4:c.2094C>T, XM_005262453.3:c.2094C>T, XM_005262453.2:c.2094C>T, XM_005262453.1:c.2094C>T, XM_005262455.5:c.2094C>T, XM_005262455.4:c.2094C>T, XM_005262455.3:c.2094C>T, XM_005262455.2:c.2094C>T, XM_005262455.1:c.2094C>T, XM_005262456.5:c.2094C>T, XM_005262456.4:c.2094C>T, XM_005262456.3:c.2094C>T, XM_005262456.2:c.2094C>T, XM_005262456.1:c.2094C>T, XM_006724776.4:c.2094C>T, XM_006724776.3:c.2094C>T, XM_006724776.2:c.2094C>T, XM_006724776.1:c.2094C>T, XM_006724777.4:c.2094C>T, XM_006724777.3:c.2094C>T, XM_006724777.2:c.2094C>T, XM_006724777.1:c.2094C>T, XM_017029722.2:c.2094C>T, XM_017029722.1:c.2094C>T, XM_017029721.2:c.2094C>T, XM_017029721.1:c.2094C>T, XM_047442341.1:c.2094C>T, XM_047442340.1:c.2094C>T, XM_047442339.1:c.2094C>T, XM_047442346.1:c.1800C>T, XM_047442345.1:c.2094C>T, XM_047442343.1:c.2094C>T, XM_047442347.1:c.1800C>T, XM_047442342.1:c.2094C>T, XM_047442344.1:c.2094C>T

                                    18.

                                    rs1480262200 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>T [Show Flanks]
                                      Chromosome:
                                      X:130051966 (GRCh38)
                                      X:129185941 (GRCh37)
                                      Canonical SPDI:
                                      NC_000023.11:130051965:A:T
                                      Gene:
                                      BCORL1 (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,synonymous_variant
                                      Validated:
                                      by frequency
                                      MAF:
                                      T=0.000006/1 (GnomAD_exomes)
                                      HGVS:
                                      NC_000023.11:g.130051966A>T, NC_000023.10:g.129185941A>T, NG_021274.1:g.74273A>T, NM_021946.5:c.4803A>T, NM_021946.4:c.4803A>T, NM_001184772.3:c.5025A>T, NM_001184772.2:c.5025A>T, NM_001184772.1:c.5025A>T, NM_001379450.1:c.5025A>T, NM_001379451.1:c.5025A>T, XM_005262453.5:c.5025A>T, XM_005262453.4:c.5025A>T, XM_005262453.3:c.5025A>T, XM_005262453.2:c.5025A>T, XM_005262453.1:c.5025A>T, XM_005262455.5:c.5025A>T, XM_005262455.4:c.5025A>T, XM_005262455.3:c.5025A>T, XM_005262455.2:c.5025A>T, XM_005262455.1:c.5025A>T, XM_005262456.5:c.4635A>T, XM_005262456.4:c.4635A>T, XM_005262456.3:c.4635A>T, XM_005262456.2:c.4635A>T, XM_005262456.1:c.4635A>T, XM_006724776.4:c.5025A>T, XM_006724776.3:c.5025A>T, XM_006724776.2:c.5025A>T, XM_006724776.1:c.5025A>T, XM_006724777.4:c.5025A>T, XM_006724777.3:c.5025A>T, XM_006724777.2:c.5025A>T, XM_006724777.1:c.5025A>T, XM_017029722.2:c.5025A>T, XM_017029722.1:c.5025A>T, XM_017029721.2:c.5025A>T, XM_017029721.1:c.5025A>T, XM_047442341.1:c.5025A>T, XM_047442340.1:c.5025A>T, XM_047442339.1:c.5025A>T, XM_047442346.1:c.4731A>T, XM_047442345.1:c.4635A>T, XM_047442343.1:c.4635A>T, XM_047442347.1:c.4341A>T, XM_047442342.1:c.4635A>T, XM_047442344.1:c.4635A>T

                                      19.

                                      rs1479275097 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>C [Show Flanks]
                                        Chromosome:
                                        X:130056132 (GRCh38)
                                        X:129190107 (GRCh37)
                                        Canonical SPDI:
                                        NC_000023.11:130056131:G:C
                                        Gene:
                                        BCORL1 (Varview)
                                        Functional Consequence:
                                        coding_sequence_variant,missense_variant
                                        HGVS:
                                        NC_000023.11:g.130056132G>C, NC_000023.10:g.129190107G>C, NG_021274.1:g.78439G>C, NM_021946.5:c.5132G>C, NM_021946.4:c.5132G>C, NM_001184772.3:c.5354G>C, NM_001184772.2:c.5354G>C, NM_001184772.1:c.5354G>C, NM_001379450.1:c.5354G>C, NM_001379451.1:c.5354G>C, XM_005262453.5:c.5354G>C, XM_005262453.4:c.5354G>C, XM_005262453.3:c.5354G>C, XM_005262453.2:c.5354G>C, XM_005262453.1:c.5354G>C, XM_005262455.5:c.5354G>C, XM_005262455.4:c.5354G>C, XM_005262455.3:c.5354G>C, XM_005262455.2:c.5354G>C, XM_005262455.1:c.5354G>C, XM_005262456.5:c.4964G>C, XM_005262456.4:c.4964G>C, XM_005262456.3:c.4964G>C, XM_005262456.2:c.4964G>C, XM_005262456.1:c.4964G>C, XM_006724776.4:c.5354G>C, XM_006724776.3:c.5354G>C, XM_006724776.2:c.5354G>C, XM_006724776.1:c.5354G>C, XM_006724777.4:c.5354G>C, XM_006724777.3:c.5354G>C, XM_006724777.2:c.5354G>C, XM_006724777.1:c.5354G>C, XM_017029722.2:c.5354G>C, XM_017029722.1:c.5354G>C, XM_017029721.2:c.5354G>C, XM_017029721.1:c.5354G>C, XM_047442341.1:c.5354G>C, XM_047442340.1:c.5354G>C, XM_047442339.1:c.5354G>C, XM_047442346.1:c.5060G>C, XM_047442345.1:c.4964G>C, XM_047442343.1:c.4964G>C, XM_047442347.1:c.4670G>C, XM_047442342.1:c.4964G>C, XM_047442344.1:c.4964G>C, NP_068765.3:p.Ser1711Thr, NP_001171701.1:p.Ser1785Thr, NP_001366379.1:p.Ser1785Thr, NP_001366380.1:p.Ser1785Thr, XP_005262510.2:p.Ser1785Thr, XP_005262512.2:p.Ser1785Thr, XP_005262513.2:p.Ser1655Thr, XP_006724839.1:p.Ser1785Thr, XP_006724840.1:p.Ser1785Thr, XP_016885211.1:p.Ser1785Thr, XP_016885210.1:p.Ser1785Thr, XP_047298297.1:p.Ser1785Thr, XP_047298296.1:p.Ser1785Thr, XP_047298295.1:p.Ser1785Thr, XP_047298302.1:p.Ser1687Thr, XP_047298301.1:p.Ser1655Thr, XP_047298299.1:p.Ser1655Thr, XP_047298303.1:p.Ser1557Thr, XP_047298298.1:p.Ser1655Thr, XP_047298300.1:p.Ser1655Thr

                                        20.

                                        rs1478365256 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>T [Show Flanks]
                                          Chromosome:
                                          X:130015020 (GRCh38)
                                          X:129148996 (GRCh37)
                                          Canonical SPDI:
                                          NC_000023.11:130015019:C:T
                                          Gene:
                                          BCORL1 (Varview)
                                          Functional Consequence:
                                          coding_sequence_variant,missense_variant
                                          Clinical significance:
                                          uncertain-significance
                                          Validated:
                                          by frequency
                                          MAF:
                                          T=0.000005/1 (GnomAD_exomes)
                                          HGVS:
                                          NC_000023.11:g.130015020C>T, NC_000023.10:g.129148996C>T, NG_021274.1:g.37328C>T, NM_021946.5:c.2248C>T, NM_021946.4:c.2248C>T, NM_001184772.3:c.2248C>T, NM_001184772.2:c.2248C>T, NM_001184772.1:c.2248C>T, NM_001379450.1:c.2248C>T, NM_001379451.1:c.2248C>T, XM_005262453.5:c.2248C>T, XM_005262453.4:c.2248C>T, XM_005262453.3:c.2248C>T, XM_005262453.2:c.2248C>T, XM_005262453.1:c.2248C>T, XM_005262455.5:c.2248C>T, XM_005262455.4:c.2248C>T, XM_005262455.3:c.2248C>T, XM_005262455.2:c.2248C>T, XM_005262455.1:c.2248C>T, XM_005262456.5:c.2248C>T, XM_005262456.4:c.2248C>T, XM_005262456.3:c.2248C>T, XM_005262456.2:c.2248C>T, XM_005262456.1:c.2248C>T, XM_006724776.4:c.2248C>T, XM_006724776.3:c.2248C>T, XM_006724776.2:c.2248C>T, XM_006724776.1:c.2248C>T, XM_006724777.4:c.2248C>T, XM_006724777.3:c.2248C>T, XM_006724777.2:c.2248C>T, XM_006724777.1:c.2248C>T, XM_017029722.2:c.2248C>T, XM_017029722.1:c.2248C>T, XM_017029721.2:c.2248C>T, XM_017029721.1:c.2248C>T, XM_047442341.1:c.2248C>T, XM_047442340.1:c.2248C>T, XM_047442339.1:c.2248C>T, XM_047442346.1:c.1954C>T, XM_047442345.1:c.2248C>T, XM_047442343.1:c.2248C>T, XM_047442347.1:c.1954C>T, XM_047442342.1:c.2248C>T, XM_047442344.1:c.2248C>T, NP_068765.3:p.Pro750Ser, NP_001171701.1:p.Pro750Ser, NP_001366379.1:p.Pro750Ser, NP_001366380.1:p.Pro750Ser, XP_005262510.2:p.Pro750Ser, XP_005262512.2:p.Pro750Ser, XP_005262513.2:p.Pro750Ser, XP_006724839.1:p.Pro750Ser, XP_006724840.1:p.Pro750Ser, XP_016885211.1:p.Pro750Ser, XP_016885210.1:p.Pro750Ser, XP_047298297.1:p.Pro750Ser, XP_047298296.1:p.Pro750Ser, XP_047298295.1:p.Pro750Ser, XP_047298302.1:p.Pro652Ser, XP_047298301.1:p.Pro750Ser, XP_047298299.1:p.Pro750Ser, XP_047298303.1:p.Pro652Ser, XP_047298298.1:p.Pro750Ser, XP_047298300.1:p.Pro750Ser

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