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Items: 1 to 20 of 428

1.

rs1486288807 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>G [Show Flanks]
    Chromosome:
    X:41569743 (GRCh38)
    X:41428996 (GRCh37)
    Canonical SPDI:
    NC_000023.11:41569742:T:G
    Gene:
    CASK (Varview)
    Functional Consequence:
    coding_sequence_variant,missense_variant
    Validated:
    by frequency
    MAF:
    G=0.000006/1 (GnomAD_exomes)
    HGVS:
    NC_000023.11:g.41569743T>G, NC_000023.10:g.41428996T>G, NG_016754.2:g.358292A>C, NM_003688.4:c.1507A>C, NM_003688.3:c.1507A>C, NM_001126054.3:c.1507A>C, NM_001126054.2:c.1507A>C, NM_001126055.3:c.1489A>C, NM_001126055.2:c.1489A>C, NM_001367721.1:c.1507A>C, NM_001410745.1:c.1489A>C, XM_005272686.5:c.1489A>C, XM_006724566.4:c.1489A>C, XM_006724566.3:c.1489A>C, XM_006724566.2:c.1489A>C, XM_006724566.1:c.1489A>C, XM_011543997.4:c.934A>C, XM_011543997.3:c.934A>C, XM_011543997.2:c.934A>C, XM_011543997.1:c.934A>C, XM_011543993.3:c.1507A>C, XM_011543993.2:c.1507A>C, XM_011543993.1:c.1507A>C, XM_011543994.3:c.1507A>C, XM_011543994.2:c.1507A>C, XM_011543994.1:c.1507A>C, XM_011543995.3:c.1507A>C, XM_011543995.2:c.1507A>C, XM_011543995.1:c.1507A>C, XM_011543996.3:c.1507A>C, XM_011543996.2:c.1507A>C, XM_011543996.1:c.1507A>C, XM_047442601.1:c.1489A>C, NP_003679.2:p.Ile503Leu, NP_001119526.1:p.Ile503Leu, NP_001119527.1:p.Ile497Leu, NP_001354650.1:p.Ile503Leu, XP_005272743.1:p.Ile497Leu, XP_006724629.1:p.Ile497Leu, XP_011542299.1:p.Ile312Leu, XP_011542295.1:p.Ile503Leu, XP_011542296.1:p.Ile503Leu, XP_011542297.1:p.Ile503Leu, XP_011542298.1:p.Ile503Leu, XP_047298557.1:p.Ile497Leu

    2.

    rs1485547629 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>T [Show Flanks]
      Chromosome:
      X:41853183 (GRCh38)
      X:41712436 (GRCh37)
      Canonical SPDI:
      NC_000023.11:41853182:C:T
      Gene:
      CASK (Varview)
      Functional Consequence:
      coding_sequence_variant,missense_variant,genic_upstream_transcript_variant
      Clinical significance:
      uncertain-significance
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      T=0./0 (ALFA)
      T=0.000015/4 (TOPMED)
      HGVS:
      NC_000023.11:g.41853183C>T, NC_000023.10:g.41712436C>T, NG_016754.2:g.74852G>A, NM_003688.4:c.104G>A, NM_003688.3:c.104G>A, NM_001126054.3:c.104G>A, NM_001126054.2:c.104G>A, NM_001126055.3:c.104G>A, NM_001126055.2:c.104G>A, NM_001367721.1:c.104G>A, NM_001410745.1:c.104G>A, XM_005272686.5:c.104G>A, XM_006724566.4:c.104G>A, XM_006724566.3:c.104G>A, XM_006724566.2:c.104G>A, XM_006724566.1:c.104G>A, XM_011543993.3:c.104G>A, XM_011543993.2:c.104G>A, XM_011543993.1:c.104G>A, XM_011543994.3:c.104G>A, XM_011543994.2:c.104G>A, XM_011543994.1:c.104G>A, XM_011543995.3:c.104G>A, XM_011543995.2:c.104G>A, XM_011543995.1:c.104G>A, XM_011543996.3:c.104G>A, XM_011543996.2:c.104G>A, XM_011543996.1:c.104G>A, XM_047442601.1:c.104G>A, NP_003679.2:p.Gly35Glu, NP_001119526.1:p.Gly35Glu, NP_001119527.1:p.Gly35Glu, NP_001354650.1:p.Gly35Glu, XP_005272743.1:p.Gly35Glu, XP_006724629.1:p.Gly35Glu, XP_011542295.1:p.Gly35Glu, XP_011542296.1:p.Gly35Glu, XP_011542297.1:p.Gly35Glu, XP_011542298.1:p.Gly35Glu, XP_047298557.1:p.Gly35Glu

      3.

      rs1477992342 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        A>G [Show Flanks]
        Chromosome:
        X:41578489 (GRCh38)
        X:41437742 (GRCh37)
        Canonical SPDI:
        NC_000023.11:41578488:A:G
        Gene:
        CASK (Varview)
        Functional Consequence:
        coding_sequence_variant,missense_variant
        Validated:
        by frequency
        MAF:
        G=0.000005/1 (GnomAD_exomes)
        HGVS:
        NC_000023.11:g.41578489A>G, NC_000023.10:g.41437742A>G, NG_016754.2:g.349546T>C, NM_003688.4:c.1354T>C, NM_003688.3:c.1354T>C, NM_001126054.3:c.1354T>C, NM_001126054.2:c.1354T>C, NM_001126055.3:c.1336T>C, NM_001126055.2:c.1336T>C, NM_001367721.1:c.1354T>C, NM_001410745.1:c.1336T>C, XM_005272686.5:c.1336T>C, XM_006724566.4:c.1336T>C, XM_006724566.3:c.1336T>C, XM_006724566.2:c.1336T>C, XM_006724566.1:c.1336T>C, XM_011543997.4:c.781T>C, XM_011543997.3:c.781T>C, XM_011543997.2:c.781T>C, XM_011543997.1:c.781T>C, XM_011543993.3:c.1354T>C, XM_011543993.2:c.1354T>C, XM_011543993.1:c.1354T>C, XM_011543994.3:c.1354T>C, XM_011543994.2:c.1354T>C, XM_011543994.1:c.1354T>C, XM_011543995.3:c.1354T>C, XM_011543995.2:c.1354T>C, XM_011543995.1:c.1354T>C, XM_011543996.3:c.1354T>C, XM_011543996.2:c.1354T>C, XM_011543996.1:c.1354T>C, XM_047442601.1:c.1336T>C, NP_003679.2:p.Tyr452His, NP_001119526.1:p.Tyr452His, NP_001119527.1:p.Tyr446His, NP_001354650.1:p.Tyr452His, XP_005272743.1:p.Tyr446His, XP_006724629.1:p.Tyr446His, XP_011542299.1:p.Tyr261His, XP_011542295.1:p.Tyr452His, XP_011542296.1:p.Tyr452His, XP_011542297.1:p.Tyr452His, XP_011542298.1:p.Tyr452His, XP_047298557.1:p.Tyr446His

        4.

        rs1477960937 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>C [Show Flanks]
          Chromosome:
          X:41542696 (GRCh38)
          X:41401949 (GRCh37)
          Canonical SPDI:
          NC_000023.11:41542695:T:C
          Gene:
          CASK (Varview)
          Functional Consequence:
          coding_sequence_variant,missense_variant
          Validated:
          by frequency
          MAF:
          C=0.000005/1 (GnomAD_exomes)
          HGVS:
          NC_000023.11:g.41542696T>C, NC_000023.10:g.41401949T>C, NG_016754.2:g.385339A>G, NM_003688.4:c.2150A>G, NM_003688.3:c.2150A>G, NM_001126054.3:c.2081A>G, NM_001126054.2:c.2081A>G, NM_001126055.3:c.2063A>G, NM_001126055.2:c.2063A>G, NM_001367721.1:c.2150A>G, NM_001410745.1:c.2132A>G, XM_005272686.5:c.2132A>G, XM_006724566.4:c.2027A>G, XM_006724566.3:c.2027A>G, XM_006724566.2:c.2027A>G, XM_006724566.1:c.2027A>G, XM_011543997.4:c.1577A>G, XM_011543997.3:c.1577A>G, XM_011543997.2:c.1577A>G, XM_011543997.1:c.1577A>G, XM_011543993.3:c.2150A>G, XM_011543993.2:c.2150A>G, XM_011543993.1:c.2150A>G, XM_011543994.3:c.2114A>G, XM_011543994.2:c.2114A>G, XM_011543994.1:c.2114A>G, XM_011543995.3:c.2081A>G, XM_011543995.2:c.2081A>G, XM_011543995.1:c.2081A>G, XM_011543996.3:c.2045A>G, XM_011543996.2:c.2045A>G, XM_011543996.1:c.2045A>G, XM_047442601.1:c.2096A>G, NP_003679.2:p.Asn717Ser, NP_001119526.1:p.Asn694Ser, NP_001119527.1:p.Asn688Ser, NP_001354650.1:p.Asn717Ser, XP_005272743.1:p.Asn711Ser, XP_006724629.1:p.Asn676Ser, XP_011542299.1:p.Asn526Ser, XP_011542295.1:p.Asn717Ser, XP_011542296.1:p.Asn705Ser, XP_011542297.1:p.Asn694Ser, XP_011542298.1:p.Asn682Ser, XP_047298557.1:p.Asn699Ser

          5.

          rs1476191448 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>G [Show Flanks]
            Chromosome:
            X:41586922 (GRCh38)
            X:41446175 (GRCh37)
            Canonical SPDI:
            NC_000023.11:41586921:T:G
            Gene:
            CASK (Varview)
            Functional Consequence:
            coding_sequence_variant,synonymous_variant
            Validated:
            by frequency
            MAF:
            G=0.000006/1 (GnomAD_exomes)
            HGVS:
            NC_000023.11:g.41586922T>G, NC_000023.10:g.41446175T>G, NG_016754.2:g.341113A>C, NM_003688.4:c.1299A>C, NM_003688.3:c.1299A>C, NM_001126054.3:c.1299A>C, NM_001126054.2:c.1299A>C, NM_001126055.3:c.1281A>C, NM_001126055.2:c.1281A>C, NM_001367721.1:c.1299A>C, NM_001410745.1:c.1281A>C, XM_005272686.5:c.1281A>C, XM_006724566.4:c.1281A>C, XM_006724566.3:c.1281A>C, XM_006724566.2:c.1281A>C, XM_006724566.1:c.1281A>C, XM_011543997.4:c.726A>C, XM_011543997.3:c.726A>C, XM_011543997.2:c.726A>C, XM_011543997.1:c.726A>C, XM_011543993.3:c.1299A>C, XM_011543993.2:c.1299A>C, XM_011543993.1:c.1299A>C, XM_011543994.3:c.1299A>C, XM_011543994.2:c.1299A>C, XM_011543994.1:c.1299A>C, XM_011543995.3:c.1299A>C, XM_011543995.2:c.1299A>C, XM_011543995.1:c.1299A>C, XM_011543996.3:c.1299A>C, XM_011543996.2:c.1299A>C, XM_011543996.1:c.1299A>C, XM_047442601.1:c.1281A>C

            6.

            rs1469818271 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>T [Show Flanks]
              Chromosome:
              X:41524008 (GRCh38)
              X:41383261 (GRCh37)
              Canonical SPDI:
              NC_000023.11:41524007:C:T
              Gene:
              CASK (Varview)
              Functional Consequence:
              synonymous_variant,coding_sequence_variant
              Validated:
              by frequency,by alfa
              MAF:
              T=0./0 (ALFA)
              T=0.000008/2 (TOPMED)
              HGVS:
              NC_000023.11:g.41524008C>T, NC_000023.10:g.41383261C>T, NG_016754.2:g.404027G>A, NM_003688.4:c.2532G>A, NM_003688.3:c.2532G>A, NM_001126054.3:c.2463G>A, NM_001126054.2:c.2463G>A, NM_001126055.3:c.2460G>A, NM_001126055.2:c.2460G>A, NM_001367721.1:c.2547G>A, NM_001410745.1:c.2529G>A, XM_005272686.5:c.2529G>A, XM_006724566.4:c.2424G>A, XM_006724566.3:c.2424G>A, XM_006724566.2:c.2424G>A, XM_006724566.1:c.2424G>A, XM_011543997.4:c.1974G>A, XM_011543997.3:c.1974G>A, XM_011543997.2:c.1974G>A, XM_011543997.1:c.1974G>A, XM_011543993.3:c.2547G>A, XM_011543993.2:c.2547G>A, XM_011543993.1:c.2547G>A, XM_011543994.3:c.2511G>A, XM_011543994.2:c.2511G>A, XM_011543994.1:c.2511G>A, XM_011543995.3:c.2478G>A, XM_011543995.2:c.2478G>A, XM_011543995.1:c.2478G>A, XM_011543996.3:c.2442G>A, XM_011543996.2:c.2442G>A, XM_011543996.1:c.2442G>A, XM_047442601.1:c.2493G>A

              7.

              rs1468912595 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>T [Show Flanks]
                Chromosome:
                X:41626640 (GRCh38)
                X:41485893 (GRCh37)
                Canonical SPDI:
                NC_000023.11:41626639:C:T
                Gene:
                CASK (Varview), LOC124905180 (Varview)
                Functional Consequence:
                missense_variant,intron_variant,coding_sequence_variant
                Validated:
                by frequency,by alfa
                MAF:
                T=0.000071/1 (ALFA)
                T=0.000004/1 (TOPMED)
                HGVS:
                NC_000023.11:g.41626640C>T, NC_000023.10:g.41485893C>T, NG_016754.2:g.301395G>A, NM_003688.4:c.979G>A, NM_003688.3:c.979G>A, NM_001126054.3:c.979G>A, NM_001126054.2:c.979G>A, NM_001126055.3:c.979G>A, NM_001126055.2:c.979G>A, NM_001367721.1:c.979G>A, NM_001410745.1:c.979G>A, XM_005272686.5:c.979G>A, XM_006724566.4:c.979G>A, XM_006724566.3:c.979G>A, XM_006724566.2:c.979G>A, XM_006724566.1:c.979G>A, XM_011543997.4:c.424G>A, XM_011543997.3:c.424G>A, XM_011543997.2:c.424G>A, XM_011543997.1:c.424G>A, XM_011543993.3:c.997G>A, XM_011543993.2:c.997G>A, XM_011543993.1:c.997G>A, XM_011543994.3:c.997G>A, XM_011543994.2:c.997G>A, XM_011543994.1:c.997G>A, XM_011543995.3:c.997G>A, XM_011543995.2:c.997G>A, XM_011543995.1:c.997G>A, XM_011543996.3:c.997G>A, XM_011543996.2:c.997G>A, XM_011543996.1:c.997G>A, XM_047442601.1:c.979G>A, NP_003679.2:p.Glu327Lys, NP_001119526.1:p.Glu327Lys, NP_001119527.1:p.Glu327Lys, NP_001354650.1:p.Glu327Lys, XP_005272743.1:p.Glu327Lys, XP_006724629.1:p.Glu327Lys, XP_011542299.1:p.Glu142Lys, XP_011542295.1:p.Glu333Lys, XP_011542296.1:p.Glu333Lys, XP_011542297.1:p.Glu333Lys, XP_011542298.1:p.Glu333Lys, XP_047298557.1:p.Glu327Lys

                8.

                rs1467380702 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>T [Show Flanks]
                  Chromosome:
                  X:41559794 (GRCh38)
                  X:41419047 (GRCh37)
                  Canonical SPDI:
                  NC_000023.11:41559793:C:T
                  Gene:
                  CASK (Varview)
                  Functional Consequence:
                  synonymous_variant,coding_sequence_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  T=0./0 (ALFA)
                  T=0.000011/2 (GnomAD_exomes)
                  T=0.000038/10 (TOPMED)
                  T=0.000038/4 (GnomAD)
                  HGVS:
                  NC_000023.11:g.41559794C>T, NC_000023.10:g.41419047C>T, NG_016754.2:g.368241G>A, NM_003688.4:c.1722G>A, NM_003688.3:c.1722G>A, NM_001126054.3:c.1722G>A, NM_001126054.2:c.1722G>A, NM_001126055.3:c.1704G>A, NM_001126055.2:c.1704G>A, NM_001367721.1:c.1722G>A, NM_001410745.1:c.1704G>A, XM_005272686.5:c.1704G>A, XM_006724566.4:c.1704G>A, XM_006724566.3:c.1704G>A, XM_006724566.2:c.1704G>A, XM_006724566.1:c.1704G>A, XM_011543997.4:c.1149G>A, XM_011543997.3:c.1149G>A, XM_011543997.2:c.1149G>A, XM_011543997.1:c.1149G>A, XM_011543993.3:c.1722G>A, XM_011543993.2:c.1722G>A, XM_011543993.1:c.1722G>A, XM_011543994.3:c.1722G>A, XM_011543994.2:c.1722G>A, XM_011543994.1:c.1722G>A, XM_011543995.3:c.1722G>A, XM_011543995.2:c.1722G>A, XM_011543995.1:c.1722G>A, XM_011543996.3:c.1722G>A, XM_011543996.2:c.1722G>A, XM_011543996.1:c.1722G>A, XM_047442601.1:c.1704G>A

                  9.

                  rs1465970461 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>G [Show Flanks]
                    Chromosome:
                    X:41561644 (GRCh38)
                    X:41420897 (GRCh37)
                    Canonical SPDI:
                    NC_000023.11:41561643:C:G
                    Gene:
                    CASK (Varview)
                    Functional Consequence:
                    missense_variant,coding_sequence_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    G=0./0 (ALFA)
                    G=0.000008/2 (TOPMED)
                    HGVS:
                    NC_000023.11:g.41561644C>G, NC_000023.10:g.41420897C>G, NG_016754.2:g.366391G>C, NM_003688.4:c.1583G>C, NM_003688.3:c.1583G>C, NM_001126054.3:c.1583G>C, NM_001126054.2:c.1583G>C, NM_001126055.3:c.1565G>C, NM_001126055.2:c.1565G>C, NM_001367721.1:c.1583G>C, NM_001410745.1:c.1565G>C, XM_005272686.5:c.1565G>C, XM_006724566.4:c.1565G>C, XM_006724566.3:c.1565G>C, XM_006724566.2:c.1565G>C, XM_006724566.1:c.1565G>C, XM_011543997.4:c.1010G>C, XM_011543997.3:c.1010G>C, XM_011543997.2:c.1010G>C, XM_011543997.1:c.1010G>C, XM_011543993.3:c.1583G>C, XM_011543993.2:c.1583G>C, XM_011543993.1:c.1583G>C, XM_011543994.3:c.1583G>C, XM_011543994.2:c.1583G>C, XM_011543994.1:c.1583G>C, XM_011543995.3:c.1583G>C, XM_011543995.2:c.1583G>C, XM_011543995.1:c.1583G>C, XM_011543996.3:c.1583G>C, XM_011543996.2:c.1583G>C, XM_011543996.1:c.1583G>C, XM_047442601.1:c.1565G>C, NP_003679.2:p.Gly528Ala, NP_001119526.1:p.Gly528Ala, NP_001119527.1:p.Gly522Ala, NP_001354650.1:p.Gly528Ala, XP_005272743.1:p.Gly522Ala, XP_006724629.1:p.Gly522Ala, XP_011542299.1:p.Gly337Ala, XP_011542295.1:p.Gly528Ala, XP_011542296.1:p.Gly528Ala, XP_011542297.1:p.Gly528Ala, XP_011542298.1:p.Gly528Ala, XP_047298557.1:p.Gly522Ala

                    10.

                    rs1462411870 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>G [Show Flanks]
                      Chromosome:
                      X:41542709 (GRCh38)
                      X:41401962 (GRCh37)
                      Canonical SPDI:
                      NC_000023.11:41542708:A:G
                      Gene:
                      CASK (Varview)
                      Functional Consequence:
                      synonymous_variant,coding_sequence_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      G=0.000142/2 (ALFA)
                      G=0.00001/1 (GnomAD)
                      HGVS:
                      NC_000023.11:g.41542709A>G, NC_000023.10:g.41401962A>G, NG_016754.2:g.385326T>C, NM_003688.4:c.2137T>C, NM_003688.3:c.2137T>C, NM_001126054.3:c.2068T>C, NM_001126054.2:c.2068T>C, NM_001126055.3:c.2050T>C, NM_001126055.2:c.2050T>C, NM_001367721.1:c.2137T>C, NM_001410745.1:c.2119T>C, XM_005272686.5:c.2119T>C, XM_006724566.4:c.2014T>C, XM_006724566.3:c.2014T>C, XM_006724566.2:c.2014T>C, XM_006724566.1:c.2014T>C, XM_011543997.4:c.1564T>C, XM_011543997.3:c.1564T>C, XM_011543997.2:c.1564T>C, XM_011543997.1:c.1564T>C, XM_011543993.3:c.2137T>C, XM_011543993.2:c.2137T>C, XM_011543993.1:c.2137T>C, XM_011543994.3:c.2101T>C, XM_011543994.2:c.2101T>C, XM_011543994.1:c.2101T>C, XM_011543995.3:c.2068T>C, XM_011543995.2:c.2068T>C, XM_011543995.1:c.2068T>C, XM_011543996.3:c.2032T>C, XM_011543996.2:c.2032T>C, XM_011543996.1:c.2032T>C, XM_047442601.1:c.2083T>C

                      11.

                      rs1460299575 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>G [Show Flanks]
                        Chromosome:
                        X:41534916 (GRCh38)
                        X:41394169 (GRCh37)
                        Canonical SPDI:
                        NC_000023.11:41534915:T:G
                        Gene:
                        CASK (Varview)
                        Functional Consequence:
                        missense_variant,coding_sequence_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        G=0./0 (ALFA)
                        G=0.000004/1 (TOPMED)
                        HGVS:
                        NC_000023.11:g.41534916T>G, NC_000023.10:g.41394169T>G, NG_016754.2:g.393119A>C, NM_003688.4:c.2198A>C, NM_003688.3:c.2198A>C, NM_001126054.3:c.2129A>C, NM_001126054.2:c.2129A>C, NM_001126055.3:c.2126A>C, NM_001126055.2:c.2126A>C, NM_001367721.1:c.2213A>C, NM_001410745.1:c.2195A>C, XM_005272686.5:c.2195A>C, XM_006724566.4:c.2090A>C, XM_006724566.3:c.2090A>C, XM_006724566.2:c.2090A>C, XM_006724566.1:c.2090A>C, XM_011543997.4:c.1640A>C, XM_011543997.3:c.1640A>C, XM_011543997.2:c.1640A>C, XM_011543997.1:c.1640A>C, XM_011543993.3:c.2213A>C, XM_011543993.2:c.2213A>C, XM_011543993.1:c.2213A>C, XM_011543994.3:c.2177A>C, XM_011543994.2:c.2177A>C, XM_011543994.1:c.2177A>C, XM_011543995.3:c.2144A>C, XM_011543995.2:c.2144A>C, XM_011543995.1:c.2144A>C, XM_011543996.3:c.2108A>C, XM_011543996.2:c.2108A>C, XM_011543996.1:c.2108A>C, XM_047442601.1:c.2159A>C, NP_003679.2:p.Lys733Thr, NP_001119526.1:p.Lys710Thr, NP_001119527.1:p.Lys709Thr, NP_001354650.1:p.Lys738Thr, XP_005272743.1:p.Lys732Thr, XP_006724629.1:p.Lys697Thr, XP_011542299.1:p.Lys547Thr, XP_011542295.1:p.Lys738Thr, XP_011542296.1:p.Lys726Thr, XP_011542297.1:p.Lys715Thr, XP_011542298.1:p.Lys703Thr, XP_047298557.1:p.Lys720Thr

                        12.

                        rs1459833004 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>C [Show Flanks]
                          Chromosome:
                          X:41660537 (GRCh38)
                          X:41519790 (GRCh37)
                          Canonical SPDI:
                          NC_000023.11:41660536:T:C
                          Gene:
                          CASK (Varview), LOC124905180 (Varview)
                          Functional Consequence:
                          non_coding_transcript_variant,genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
                          Validated:
                          by frequency
                          MAF:
                          C=0.000005/1 (GnomAD_exomes)
                          HGVS:
                          NC_000023.11:g.41660537T>C, NC_000023.10:g.41519790T>C, NG_016754.2:g.267498A>G, NM_003688.4:c.733A>G, NM_003688.3:c.733A>G, NM_001126054.3:c.733A>G, NM_001126054.2:c.733A>G, NM_001126055.3:c.733A>G, NM_001126055.2:c.733A>G, NM_001367721.1:c.733A>G, NM_001410745.1:c.733A>G, XM_005272686.5:c.733A>G, XM_006724566.4:c.733A>G, XM_006724566.3:c.733A>G, XM_006724566.2:c.733A>G, XM_006724566.1:c.733A>G, XM_011543997.4:c.178A>G, XM_011543997.3:c.178A>G, XM_011543997.2:c.178A>G, XM_011543997.1:c.178A>G, XM_011543993.3:c.751A>G, XM_011543993.2:c.751A>G, XM_011543993.1:c.751A>G, XM_011543994.3:c.751A>G, XM_011543994.2:c.751A>G, XM_011543994.1:c.751A>G, XM_011543995.3:c.751A>G, XM_011543995.2:c.751A>G, XM_011543995.1:c.751A>G, XM_011543996.3:c.751A>G, XM_011543996.2:c.751A>G, XM_011543996.1:c.751A>G, XR_007068219.1:n.11888T>C, XM_047442601.1:c.733A>G, NP_003679.2:p.Ile245Val, NP_001119526.1:p.Ile245Val, NP_001119527.1:p.Ile245Val, NP_001354650.1:p.Ile245Val, XP_005272743.1:p.Ile245Val, XP_006724629.1:p.Ile245Val, XP_011542299.1:p.Ile60Val, XP_011542295.1:p.Ile251Val, XP_011542296.1:p.Ile251Val, XP_011542297.1:p.Ile251Val, XP_011542298.1:p.Ile251Val, XP_047298557.1:p.Ile245Val

                          13.

                          rs1457203740 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A [Show Flanks]
                            Chromosome:
                            X:41745571 (GRCh38)
                            X:41604824 (GRCh37)
                            Canonical SPDI:
                            NC_000023.11:41745570:G:A
                            Gene:
                            CASK (Varview)
                            Functional Consequence:
                            genic_upstream_transcript_variant,synonymous_variant,coding_sequence_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            A=0./0 (ALFA)
                            A=0.000006/1 (GnomAD_exomes)
                            A=0.000019/5 (TOPMED)
                            HGVS:

                            14.

                            rs1456018910 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>C [Show Flanks]
                              Chromosome:
                              X:41520494 (GRCh38)
                              X:41379747 (GRCh37)
                              Canonical SPDI:
                              NC_000023.11:41520493:T:C
                              Gene:
                              CASK (Varview)
                              Functional Consequence:
                              missense_variant,coding_sequence_variant
                              Validated:
                              by frequency
                              MAF:
                              C=0.000005/1 (GnomAD_exomes)
                              HGVS:
                              NC_000023.11:g.41520494T>C, NC_000023.10:g.41379747T>C, NG_016754.2:g.407541A>G, NM_003688.4:c.2692A>G, NM_003688.3:c.2692A>G, NM_001126054.3:c.2623A>G, NM_001126054.2:c.2623A>G, NM_001126055.3:c.2620A>G, NM_001126055.2:c.2620A>G, NM_001367721.1:c.2707A>G, NM_001410745.1:c.2689A>G, XM_005272686.5:c.2689A>G, XM_006724566.4:c.2584A>G, XM_006724566.3:c.2584A>G, XM_006724566.2:c.2584A>G, XM_006724566.1:c.2584A>G, XM_011543997.4:c.2134A>G, XM_011543997.3:c.2134A>G, XM_011543997.2:c.2134A>G, XM_011543997.1:c.2134A>G, XM_011543993.3:c.2707A>G, XM_011543993.2:c.2707A>G, XM_011543993.1:c.2707A>G, XM_011543994.3:c.2671A>G, XM_011543994.2:c.2671A>G, XM_011543994.1:c.2671A>G, XM_011543995.3:c.2638A>G, XM_011543995.2:c.2638A>G, XM_011543995.1:c.2638A>G, XM_011543996.3:c.2602A>G, XM_011543996.2:c.2602A>G, XM_011543996.1:c.2602A>G, XM_047442601.1:c.2653A>G, NP_003679.2:p.Ile898Val, NP_001119526.1:p.Ile875Val, NP_001119527.1:p.Ile874Val, NP_001354650.1:p.Ile903Val, XP_005272743.1:p.Ile897Val, XP_006724629.1:p.Ile862Val, XP_011542299.1:p.Ile712Val, XP_011542295.1:p.Ile903Val, XP_011542296.1:p.Ile891Val, XP_011542297.1:p.Ile880Val, XP_011542298.1:p.Ile868Val, XP_047298557.1:p.Ile885Val

                              15.

                              rs1454448844 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>C [Show Flanks]
                                Chromosome:
                                X:41534712 (GRCh38)
                                X:41393965 (GRCh37)
                                Canonical SPDI:
                                NC_000023.11:41534711:T:C
                                Gene:
                                CASK (Varview)
                                Functional Consequence:
                                coding_sequence_variant,missense_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                C=0./0 (ALFA)
                                C=0.000015/4 (TOPMED)
                                HGVS:
                                NC_000023.11:g.41534712T>C, NC_000023.10:g.41393965T>C, NG_016754.2:g.393323A>G, NM_003688.4:c.2296A>G, NM_003688.3:c.2296A>G, NM_001126054.3:c.2227A>G, NM_001126054.2:c.2227A>G, NM_001126055.3:c.2224A>G, NM_001126055.2:c.2224A>G, NM_001367721.1:c.2311A>G, NM_001410745.1:c.2293A>G, XM_005272686.5:c.2293A>G, XM_006724566.4:c.2188A>G, XM_006724566.3:c.2188A>G, XM_006724566.2:c.2188A>G, XM_006724566.1:c.2188A>G, XM_011543997.4:c.1738A>G, XM_011543997.3:c.1738A>G, XM_011543997.2:c.1738A>G, XM_011543997.1:c.1738A>G, XM_011543993.3:c.2311A>G, XM_011543993.2:c.2311A>G, XM_011543993.1:c.2311A>G, XM_011543994.3:c.2275A>G, XM_011543994.2:c.2275A>G, XM_011543994.1:c.2275A>G, XM_011543995.3:c.2242A>G, XM_011543995.2:c.2242A>G, XM_011543995.1:c.2242A>G, XM_011543996.3:c.2206A>G, XM_011543996.2:c.2206A>G, XM_011543996.1:c.2206A>G, XM_047442601.1:c.2257A>G, NP_003679.2:p.Ile766Val, NP_001119526.1:p.Ile743Val, NP_001119527.1:p.Ile742Val, NP_001354650.1:p.Ile771Val, XP_005272743.1:p.Ile765Val, XP_006724629.1:p.Ile730Val, XP_011542299.1:p.Ile580Val, XP_011542295.1:p.Ile771Val, XP_011542296.1:p.Ile759Val, XP_011542297.1:p.Ile748Val, XP_011542298.1:p.Ile736Val, XP_047298557.1:p.Ile753Val

                                16.

                                rs1454276344 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>T [Show Flanks]
                                  Chromosome:
                                  X:41561571 (GRCh38)
                                  X:41420824 (GRCh37)
                                  Canonical SPDI:
                                  NC_000023.11:41561570:C:T
                                  Gene:
                                  CASK (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,synonymous_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  T=0./0 (ALFA)
                                  T=0.000011/3 (TOPMED)
                                  HGVS:
                                  NC_000023.11:g.41561571C>T, NC_000023.10:g.41420824C>T, NG_016754.2:g.366464G>A, NM_003688.4:c.1656G>A, NM_003688.3:c.1656G>A, NM_001126054.3:c.1656G>A, NM_001126054.2:c.1656G>A, NM_001126055.3:c.1638G>A, NM_001126055.2:c.1638G>A, NM_001367721.1:c.1656G>A, NM_001410745.1:c.1638G>A, XM_005272686.5:c.1638G>A, XM_006724566.4:c.1638G>A, XM_006724566.3:c.1638G>A, XM_006724566.2:c.1638G>A, XM_006724566.1:c.1638G>A, XM_011543997.4:c.1083G>A, XM_011543997.3:c.1083G>A, XM_011543997.2:c.1083G>A, XM_011543997.1:c.1083G>A, XM_011543993.3:c.1656G>A, XM_011543993.2:c.1656G>A, XM_011543993.1:c.1656G>A, XM_011543994.3:c.1656G>A, XM_011543994.2:c.1656G>A, XM_011543994.1:c.1656G>A, XM_011543995.3:c.1656G>A, XM_011543995.2:c.1656G>A, XM_011543995.1:c.1656G>A, XM_011543996.3:c.1656G>A, XM_011543996.2:c.1656G>A, XM_011543996.1:c.1656G>A, XM_047442601.1:c.1638G>A

                                  17.

                                  rs1442053618 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>T [Show Flanks]
                                    Chromosome:
                                    X:41636595 (GRCh38)
                                    X:41495848 (GRCh37)
                                    Canonical SPDI:
                                    NC_000023.11:41636594:C:T
                                    Gene:
                                    CASK (Varview), LOC124905180 (Varview)
                                    Functional Consequence:
                                    intron_variant,coding_sequence_variant,missense_variant
                                    Clinical significance:
                                    uncertain-significance
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    T=0./0 (ALFA)
                                    T=0.000008/2 (TOPMED)
                                    HGVS:
                                    NC_000023.11:g.41636595C>T, NC_000023.10:g.41495848C>T, NG_016754.2:g.291440G>A, NM_003688.4:c.898G>A, NM_003688.3:c.898G>A, NM_001126054.3:c.898G>A, NM_001126054.2:c.898G>A, NM_001126055.3:c.898G>A, NM_001126055.2:c.898G>A, NM_001367721.1:c.898G>A, NM_001410745.1:c.898G>A, XM_005272686.5:c.898G>A, XM_006724566.4:c.898G>A, XM_006724566.3:c.898G>A, XM_006724566.2:c.898G>A, XM_006724566.1:c.898G>A, XM_011543997.4:c.343G>A, XM_011543997.3:c.343G>A, XM_011543997.2:c.343G>A, XM_011543997.1:c.343G>A, XM_011543993.3:c.916G>A, XM_011543993.2:c.916G>A, XM_011543993.1:c.916G>A, XM_011543994.3:c.916G>A, XM_011543994.2:c.916G>A, XM_011543994.1:c.916G>A, XM_011543995.3:c.916G>A, XM_011543995.2:c.916G>A, XM_011543995.1:c.916G>A, XM_011543996.3:c.916G>A, XM_011543996.2:c.916G>A, XM_011543996.1:c.916G>A, XM_047442601.1:c.898G>A, NP_003679.2:p.Ala300Thr, NP_001119526.1:p.Ala300Thr, NP_001119527.1:p.Ala300Thr, NP_001354650.1:p.Ala300Thr, XP_005272743.1:p.Ala300Thr, XP_006724629.1:p.Ala300Thr, XP_011542299.1:p.Ala115Thr, XP_011542295.1:p.Ala306Thr, XP_011542296.1:p.Ala306Thr, XP_011542297.1:p.Ala306Thr, XP_011542298.1:p.Ala306Thr, XP_047298557.1:p.Ala300Thr

                                    18.

                                    rs1441824315 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>C [Show Flanks]
                                      Chromosome:
                                      X:41534742 (GRCh38)
                                      X:41393995 (GRCh37)
                                      Canonical SPDI:
                                      NC_000023.11:41534741:T:C
                                      Gene:
                                      CASK (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,missense_variant
                                      Validated:
                                      by frequency
                                      MAF:
                                      C=0.000005/1 (GnomAD_exomes)
                                      HGVS:
                                      NC_000023.11:g.41534742T>C, NC_000023.10:g.41393995T>C, NG_016754.2:g.393293A>G, NM_003688.4:c.2266A>G, NM_003688.3:c.2266A>G, NM_001126054.3:c.2197A>G, NM_001126054.2:c.2197A>G, NM_001126055.3:c.2194A>G, NM_001126055.2:c.2194A>G, NM_001367721.1:c.2281A>G, NM_001410745.1:c.2263A>G, XM_005272686.5:c.2263A>G, XM_006724566.4:c.2158A>G, XM_006724566.3:c.2158A>G, XM_006724566.2:c.2158A>G, XM_006724566.1:c.2158A>G, XM_011543997.4:c.1708A>G, XM_011543997.3:c.1708A>G, XM_011543997.2:c.1708A>G, XM_011543997.1:c.1708A>G, XM_011543993.3:c.2281A>G, XM_011543993.2:c.2281A>G, XM_011543993.1:c.2281A>G, XM_011543994.3:c.2245A>G, XM_011543994.2:c.2245A>G, XM_011543994.1:c.2245A>G, XM_011543995.3:c.2212A>G, XM_011543995.2:c.2212A>G, XM_011543995.1:c.2212A>G, XM_011543996.3:c.2176A>G, XM_011543996.2:c.2176A>G, XM_011543996.1:c.2176A>G, XM_047442601.1:c.2227A>G, NP_003679.2:p.Thr756Ala, NP_001119526.1:p.Thr733Ala, NP_001119527.1:p.Thr732Ala, NP_001354650.1:p.Thr761Ala, XP_005272743.1:p.Thr755Ala, XP_006724629.1:p.Thr720Ala, XP_011542299.1:p.Thr570Ala, XP_011542295.1:p.Thr761Ala, XP_011542296.1:p.Thr749Ala, XP_011542297.1:p.Thr738Ala, XP_011542298.1:p.Thr726Ala, XP_047298557.1:p.Thr743Ala

                                      19.

                                      rs1438737021 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>T [Show Flanks]
                                        Chromosome:
                                        X:41520530 (GRCh38)
                                        X:41379783 (GRCh37)
                                        Canonical SPDI:
                                        NC_000023.11:41520529:C:T
                                        Gene:
                                        CASK (Varview)
                                        Functional Consequence:
                                        coding_sequence_variant,missense_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        T=0.0004/2 (ALFA)
                                        HGVS:
                                        NC_000023.11:g.41520530C>T, NC_000023.10:g.41379783C>T, NG_016754.2:g.407505G>A, NM_003688.4:c.2656G>A, NM_003688.3:c.2656G>A, NM_001126054.3:c.2587G>A, NM_001126054.2:c.2587G>A, NM_001126055.3:c.2584G>A, NM_001126055.2:c.2584G>A, NM_001367721.1:c.2671G>A, NM_001410745.1:c.2653G>A, XM_005272686.5:c.2653G>A, XM_006724566.4:c.2548G>A, XM_006724566.3:c.2548G>A, XM_006724566.2:c.2548G>A, XM_006724566.1:c.2548G>A, XM_011543997.4:c.2098G>A, XM_011543997.3:c.2098G>A, XM_011543997.2:c.2098G>A, XM_011543997.1:c.2098G>A, XM_011543993.3:c.2671G>A, XM_011543993.2:c.2671G>A, XM_011543993.1:c.2671G>A, XM_011543994.3:c.2635G>A, XM_011543994.2:c.2635G>A, XM_011543994.1:c.2635G>A, XM_011543995.3:c.2602G>A, XM_011543995.2:c.2602G>A, XM_011543995.1:c.2602G>A, XM_011543996.3:c.2566G>A, XM_011543996.2:c.2566G>A, XM_011543996.1:c.2566G>A, XM_047442601.1:c.2617G>A, NP_003679.2:p.Asp886Asn, NP_001119526.1:p.Asp863Asn, NP_001119527.1:p.Asp862Asn, NP_001354650.1:p.Asp891Asn, XP_005272743.1:p.Asp885Asn, XP_006724629.1:p.Asp850Asn, XP_011542299.1:p.Asp700Asn, XP_011542295.1:p.Asp891Asn, XP_011542296.1:p.Asp879Asn, XP_011542297.1:p.Asp868Asn, XP_011542298.1:p.Asp856Asn, XP_047298557.1:p.Asp873Asn

                                        20.

                                        rs1438330953 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A [Show Flanks]
                                          Chromosome:
                                          X:41609970 (GRCh38)
                                          X:41469223 (GRCh37)
                                          Canonical SPDI:
                                          NC_000023.11:41609969:G:A
                                          Gene:
                                          CASK (Varview)
                                          Functional Consequence:
                                          coding_sequence_variant,synonymous_variant
                                          Clinical significance:
                                          likely-benign
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          A=0./0 (ALFA)
                                          A=0.000005/1 (GnomAD_exomes)
                                          A=0.000008/2 (TOPMED)
                                          A=0.00001/1 (GnomAD)
                                          HGVS:
                                          NC_000023.11:g.41609970G>A, NC_000023.10:g.41469223G>A, NG_016754.2:g.318065C>T, NM_003688.4:c.1089C>T, NM_003688.3:c.1089C>T, NM_001126054.3:c.1089C>T, NM_001126054.2:c.1089C>T, NM_001126055.3:c.1071C>T, NM_001126055.2:c.1071C>T, NM_001367721.1:c.1089C>T, NM_001410745.1:c.1071C>T, XM_005272686.5:c.1071C>T, XM_006724566.4:c.1071C>T, XM_006724566.3:c.1071C>T, XM_006724566.2:c.1071C>T, XM_006724566.1:c.1071C>T, XM_011543997.4:c.516C>T, XM_011543997.3:c.516C>T, XM_011543997.2:c.516C>T, XM_011543997.1:c.516C>T, XM_011543993.3:c.1089C>T, XM_011543993.2:c.1089C>T, XM_011543993.1:c.1089C>T, XM_011543994.3:c.1089C>T, XM_011543994.2:c.1089C>T, XM_011543994.1:c.1089C>T, XM_011543995.3:c.1089C>T, XM_011543995.2:c.1089C>T, XM_011543995.1:c.1089C>T, XM_011543996.3:c.1089C>T, XM_011543996.2:c.1089C>T, XM_011543996.1:c.1089C>T, XM_047442601.1:c.1071C>T

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