U.S. flag

An official website of the United States government

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Links from Protein

Items: 1 to 20 of 577

1.

rs1490507927 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>A [Show Flanks]
    Chromosome:
    X:5893289 (GRCh38)
    X:5811330 (GRCh37)
    Canonical SPDI:
    NC_000023.11:5893288:T:A
    Gene:
    NLGN4X (Varview)
    Functional Consequence:
    coding_sequence_variant,missense_variant
    Validated:
    by frequency,by alfa
    MAF:
    A=0./0 (ALFA)
    A=0.000005/1 (GnomAD_exomes)
    HGVS:
    NC_000023.11:g.5893289T>A, NC_000023.10:g.5811330T>A, NG_008881.2:g.340594A>T, NM_020742.4:c.1979A>T, NM_020742.3:c.1979A>T, NM_020742.2:c.1979A>T, NM_181332.3:c.1979A>T, NM_181332.2:c.1979A>T, NM_181332.1:c.1979A>T, NM_001282145.2:c.1979A>T, NM_001282145.1:c.1979A>T, NM_001282146.2:c.1979A>T, NM_001282146.1:c.1979A>T, XM_005274566.5:c.2039A>T, XM_005274566.4:c.2039A>T, XM_005274566.3:c.2039A>T, XM_005274566.2:c.2039A>T, XM_005274566.1:c.2039A>T, XM_005274564.4:c.2039A>T, XM_005274564.3:c.2039A>T, XM_005274564.2:c.2039A>T, XM_005274564.1:c.2039A>T, XM_011545548.3:c.2039A>T, XM_011545548.2:c.2039A>T, XM_011545548.1:c.2039A>T, XM_011545547.3:c.2039A>T, XM_011545547.2:c.2039A>T, XM_011545547.1:c.2039A>T, XM_005274565.3:c.2039A>T, XM_005274565.2:c.2039A>T, XM_005274565.1:c.2039A>T, XM_006724504.3:c.2039A>T, XM_006724504.2:c.2039A>T, XM_006724504.1:c.2039A>T, XM_017029692.2:c.1979A>T, XM_017029692.1:c.1979A>T, XM_017029693.2:c.1979A>T, XM_017029693.1:c.1979A>T, XM_017029691.2:c.1979A>T, XM_017029691.1:c.1979A>T, XM_047442281.1:c.1979A>T, XM_047442282.1:c.1979A>T, NP_065793.1:p.Asp660Val, NP_851849.1:p.Asp660Val, NP_001269074.1:p.Asp660Val, NP_001269075.1:p.Asp660Val, XP_005274623.1:p.Asp680Val, XP_005274621.1:p.Asp680Val, XP_011543850.1:p.Asp680Val, XP_011543849.1:p.Asp680Val, XP_005274622.1:p.Asp680Val, XP_006724567.1:p.Asp680Val, XP_016885181.1:p.Asp660Val, XP_016885182.1:p.Asp660Val, XP_016885180.1:p.Asp660Val, XP_047298237.1:p.Asp660Val, XP_047298238.1:p.Asp660Val

    2.

    rs1490379057 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>C [Show Flanks]
      Chromosome:
      X:5903669 (GRCh38)
      X:5821710 (GRCh37)
      Canonical SPDI:
      NC_000023.11:5903668:G:C
      Gene:
      NLGN4X (Varview)
      Functional Consequence:
      coding_sequence_variant,missense_variant
      Validated:
      by frequency
      MAF:
      C=0.000005/1 (GnomAD_exomes)
      HGVS:
      NC_000023.11:g.5903669G>C, NC_000023.10:g.5821710G>C, NG_008881.2:g.330214C>G, NM_020742.4:c.1009C>G, NM_020742.3:c.1009C>G, NM_020742.2:c.1009C>G, NM_181332.3:c.1009C>G, NM_181332.2:c.1009C>G, NM_181332.1:c.1009C>G, NM_001282145.2:c.1009C>G, NM_001282145.1:c.1009C>G, NM_001282146.2:c.1009C>G, NM_001282146.1:c.1009C>G, XM_005274566.5:c.1069C>G, XM_005274566.4:c.1069C>G, XM_005274566.3:c.1069C>G, XM_005274566.2:c.1069C>G, XM_005274566.1:c.1069C>G, XM_005274564.4:c.1069C>G, XM_005274564.3:c.1069C>G, XM_005274564.2:c.1069C>G, XM_005274564.1:c.1069C>G, XM_011545548.3:c.1069C>G, XM_011545548.2:c.1069C>G, XM_011545548.1:c.1069C>G, XM_011545547.3:c.1069C>G, XM_011545547.2:c.1069C>G, XM_011545547.1:c.1069C>G, XM_005274565.3:c.1069C>G, XM_005274565.2:c.1069C>G, XM_005274565.1:c.1069C>G, XM_006724504.3:c.1069C>G, XM_006724504.2:c.1069C>G, XM_006724504.1:c.1069C>G, XM_017029692.2:c.1009C>G, XM_017029692.1:c.1009C>G, XM_017029693.2:c.1009C>G, XM_017029693.1:c.1009C>G, XM_017029691.2:c.1009C>G, XM_017029691.1:c.1009C>G, XM_047442281.1:c.1009C>G, XM_047442282.1:c.1009C>G, NP_065793.1:p.His337Asp, NP_851849.1:p.His337Asp, NP_001269074.1:p.His337Asp, NP_001269075.1:p.His337Asp, XP_005274623.1:p.His357Asp, XP_005274621.1:p.His357Asp, XP_011543850.1:p.His357Asp, XP_011543849.1:p.His357Asp, XP_005274622.1:p.His357Asp, XP_006724567.1:p.His357Asp, XP_016885181.1:p.His337Asp, XP_016885182.1:p.His337Asp, XP_016885180.1:p.His337Asp, XP_047298237.1:p.His337Asp, XP_047298238.1:p.His337Asp

      3.

      rs1489895501 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A [Show Flanks]
        Chromosome:
        X:5903653 (GRCh38)
        X:5821694 (GRCh37)
        Canonical SPDI:
        NC_000023.11:5903652:G:A
        Gene:
        NLGN4X (Varview)
        Functional Consequence:
        coding_sequence_variant,missense_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        A=0./0 (ALFA)
        A=0.000004/1 (TOPMED)
        A=0.00001/1 (GnomAD)
        A=0.000045/1 (TOMMO)
        HGVS:
        NC_000023.11:g.5903653G>A, NC_000023.10:g.5821694G>A, NG_008881.2:g.330230C>T, NM_020742.4:c.1025C>T, NM_020742.3:c.1025C>T, NM_020742.2:c.1025C>T, NM_181332.3:c.1025C>T, NM_181332.2:c.1025C>T, NM_181332.1:c.1025C>T, NM_001282145.2:c.1025C>T, NM_001282145.1:c.1025C>T, NM_001282146.2:c.1025C>T, NM_001282146.1:c.1025C>T, XM_005274566.5:c.1085C>T, XM_005274566.4:c.1085C>T, XM_005274566.3:c.1085C>T, XM_005274566.2:c.1085C>T, XM_005274566.1:c.1085C>T, XM_005274564.4:c.1085C>T, XM_005274564.3:c.1085C>T, XM_005274564.2:c.1085C>T, XM_005274564.1:c.1085C>T, XM_011545548.3:c.1085C>T, XM_011545548.2:c.1085C>T, XM_011545548.1:c.1085C>T, XM_011545547.3:c.1085C>T, XM_011545547.2:c.1085C>T, XM_011545547.1:c.1085C>T, XM_005274565.3:c.1085C>T, XM_005274565.2:c.1085C>T, XM_005274565.1:c.1085C>T, XM_006724504.3:c.1085C>T, XM_006724504.2:c.1085C>T, XM_006724504.1:c.1085C>T, XM_017029692.2:c.1025C>T, XM_017029692.1:c.1025C>T, XM_017029693.2:c.1025C>T, XM_017029693.1:c.1025C>T, XM_017029691.2:c.1025C>T, XM_017029691.1:c.1025C>T, XM_047442281.1:c.1025C>T, XM_047442282.1:c.1025C>T, NP_065793.1:p.Pro342Leu, NP_851849.1:p.Pro342Leu, NP_001269074.1:p.Pro342Leu, NP_001269075.1:p.Pro342Leu, XP_005274623.1:p.Pro362Leu, XP_005274621.1:p.Pro362Leu, XP_011543850.1:p.Pro362Leu, XP_011543849.1:p.Pro362Leu, XP_005274622.1:p.Pro362Leu, XP_006724567.1:p.Pro362Leu, XP_016885181.1:p.Pro342Leu, XP_016885182.1:p.Pro342Leu, XP_016885180.1:p.Pro342Leu, XP_047298237.1:p.Pro342Leu, XP_047298238.1:p.Pro342Leu

        4.

        rs1489676958 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>G [Show Flanks]
          Chromosome:
          X:5892888 (GRCh38)
          X:5810929 (GRCh37)
          Canonical SPDI:
          NC_000023.11:5892887:T:G
          Gene:
          NLGN4X (Varview)
          Functional Consequence:
          coding_sequence_variant,missense_variant
          Validated:
          by frequency
          MAF:
          G=0.000005/1 (GnomAD_exomes)
          HGVS:
          NC_000023.11:g.5892888T>G, NC_000023.10:g.5810929T>G, NG_008881.2:g.340995A>C, NM_020742.4:c.2380A>C, NM_020742.3:c.2380A>C, NM_020742.2:c.2380A>C, NM_181332.3:c.2380A>C, NM_181332.2:c.2380A>C, NM_181332.1:c.2380A>C, NM_001282145.2:c.2380A>C, NM_001282145.1:c.2380A>C, NM_001282146.2:c.2380A>C, NM_001282146.1:c.2380A>C, XM_005274566.5:c.2440A>C, XM_005274566.4:c.2440A>C, XM_005274566.3:c.2440A>C, XM_005274566.2:c.2440A>C, XM_005274566.1:c.2440A>C, XM_005274564.4:c.2440A>C, XM_005274564.3:c.2440A>C, XM_005274564.2:c.2440A>C, XM_005274564.1:c.2440A>C, XM_011545548.3:c.2440A>C, XM_011545548.2:c.2440A>C, XM_011545548.1:c.2440A>C, XM_011545547.3:c.2440A>C, XM_011545547.2:c.2440A>C, XM_011545547.1:c.2440A>C, XM_005274565.3:c.2440A>C, XM_005274565.2:c.2440A>C, XM_005274565.1:c.2440A>C, XM_006724504.3:c.2440A>C, XM_006724504.2:c.2440A>C, XM_006724504.1:c.2440A>C, XM_017029692.2:c.2380A>C, XM_017029692.1:c.2380A>C, XM_017029693.2:c.2380A>C, XM_017029693.1:c.2380A>C, XM_017029691.2:c.2380A>C, XM_017029691.1:c.2380A>C, XM_047442281.1:c.2380A>C, XM_047442282.1:c.2380A>C, NP_065793.1:p.Thr794Pro, NP_851849.1:p.Thr794Pro, NP_001269074.1:p.Thr794Pro, NP_001269075.1:p.Thr794Pro, XP_005274623.1:p.Thr814Pro, XP_005274621.1:p.Thr814Pro, XP_011543850.1:p.Thr814Pro, XP_011543849.1:p.Thr814Pro, XP_005274622.1:p.Thr814Pro, XP_006724567.1:p.Thr814Pro, XP_016885181.1:p.Thr794Pro, XP_016885182.1:p.Thr794Pro, XP_016885180.1:p.Thr794Pro, XP_047298237.1:p.Thr794Pro, XP_047298238.1:p.Thr794Pro

          5.

          rs1488114392 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A [Show Flanks]
            Chromosome:
            X:5893187 (GRCh38)
            X:5811228 (GRCh37)
            Canonical SPDI:
            NC_000023.11:5893186:G:A
            Gene:
            NLGN4X (Varview)
            Functional Consequence:
            coding_sequence_variant,missense_variant
            Validated:
            by frequency,by cluster
            MAF:
            A=0.000005/1 (GnomAD_exomes)
            HGVS:
            NC_000023.11:g.5893187G>A, NC_000023.10:g.5811228G>A, NG_008881.2:g.340696C>T, NM_020742.4:c.2081C>T, NM_020742.3:c.2081C>T, NM_020742.2:c.2081C>T, NM_181332.3:c.2081C>T, NM_181332.2:c.2081C>T, NM_181332.1:c.2081C>T, NM_001282145.2:c.2081C>T, NM_001282145.1:c.2081C>T, NM_001282146.2:c.2081C>T, NM_001282146.1:c.2081C>T, XM_005274566.5:c.2141C>T, XM_005274566.4:c.2141C>T, XM_005274566.3:c.2141C>T, XM_005274566.2:c.2141C>T, XM_005274566.1:c.2141C>T, XM_005274564.4:c.2141C>T, XM_005274564.3:c.2141C>T, XM_005274564.2:c.2141C>T, XM_005274564.1:c.2141C>T, XM_011545548.3:c.2141C>T, XM_011545548.2:c.2141C>T, XM_011545548.1:c.2141C>T, XM_011545547.3:c.2141C>T, XM_011545547.2:c.2141C>T, XM_011545547.1:c.2141C>T, XM_005274565.3:c.2141C>T, XM_005274565.2:c.2141C>T, XM_005274565.1:c.2141C>T, XM_006724504.3:c.2141C>T, XM_006724504.2:c.2141C>T, XM_006724504.1:c.2141C>T, XM_017029692.2:c.2081C>T, XM_017029692.1:c.2081C>T, XM_017029693.2:c.2081C>T, XM_017029693.1:c.2081C>T, XM_017029691.2:c.2081C>T, XM_017029691.1:c.2081C>T, XM_047442281.1:c.2081C>T, XM_047442282.1:c.2081C>T, NP_065793.1:p.Ala694Val, NP_851849.1:p.Ala694Val, NP_001269074.1:p.Ala694Val, NP_001269075.1:p.Ala694Val, XP_005274623.1:p.Ala714Val, XP_005274621.1:p.Ala714Val, XP_011543850.1:p.Ala714Val, XP_011543849.1:p.Ala714Val, XP_005274622.1:p.Ala714Val, XP_006724567.1:p.Ala714Val, XP_016885181.1:p.Ala694Val, XP_016885182.1:p.Ala694Val, XP_016885180.1:p.Ala694Val, XP_047298237.1:p.Ala694Val, XP_047298238.1:p.Ala694Val

            6.

            rs1487321017 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>G [Show Flanks]
              Chromosome:
              X:5892906 (GRCh38)
              X:5810947 (GRCh37)
              Canonical SPDI:
              NC_000023.11:5892905:C:G
              Gene:
              NLGN4X (Varview)
              Functional Consequence:
              coding_sequence_variant,missense_variant
              Validated:
              by frequency
              MAF:
              G=0.000011/2 (GnomAD_exomes)
              HGVS:
              NC_000023.11:g.5892906C>G, NC_000023.10:g.5810947C>G, NG_008881.2:g.340977G>C, NM_020742.4:c.2362G>C, NM_020742.3:c.2362G>C, NM_020742.2:c.2362G>C, NM_181332.3:c.2362G>C, NM_181332.2:c.2362G>C, NM_181332.1:c.2362G>C, NM_001282145.2:c.2362G>C, NM_001282145.1:c.2362G>C, NM_001282146.2:c.2362G>C, NM_001282146.1:c.2362G>C, XM_005274566.5:c.2422G>C, XM_005274566.4:c.2422G>C, XM_005274566.3:c.2422G>C, XM_005274566.2:c.2422G>C, XM_005274566.1:c.2422G>C, XM_005274564.4:c.2422G>C, XM_005274564.3:c.2422G>C, XM_005274564.2:c.2422G>C, XM_005274564.1:c.2422G>C, XM_011545548.3:c.2422G>C, XM_011545548.2:c.2422G>C, XM_011545548.1:c.2422G>C, XM_011545547.3:c.2422G>C, XM_011545547.2:c.2422G>C, XM_011545547.1:c.2422G>C, XM_005274565.3:c.2422G>C, XM_005274565.2:c.2422G>C, XM_005274565.1:c.2422G>C, XM_006724504.3:c.2422G>C, XM_006724504.2:c.2422G>C, XM_006724504.1:c.2422G>C, XM_017029692.2:c.2362G>C, XM_017029692.1:c.2362G>C, XM_017029693.2:c.2362G>C, XM_017029693.1:c.2362G>C, XM_017029691.2:c.2362G>C, XM_017029691.1:c.2362G>C, XM_047442281.1:c.2362G>C, XM_047442282.1:c.2362G>C, NP_065793.1:p.Gly788Arg, NP_851849.1:p.Gly788Arg, NP_001269074.1:p.Gly788Arg, NP_001269075.1:p.Gly788Arg, XP_005274623.1:p.Gly808Arg, XP_005274621.1:p.Gly808Arg, XP_011543850.1:p.Gly808Arg, XP_011543849.1:p.Gly808Arg, XP_005274622.1:p.Gly808Arg, XP_006724567.1:p.Gly808Arg, XP_016885181.1:p.Gly788Arg, XP_016885182.1:p.Gly788Arg, XP_016885180.1:p.Gly788Arg, XP_047298237.1:p.Gly788Arg, XP_047298238.1:p.Gly788Arg

              7.

              rs1481506119 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>G [Show Flanks]
                Chromosome:
                X:5909112 (GRCh38)
                X:5827153 (GRCh37)
                Canonical SPDI:
                NC_000023.11:5909111:A:G
                Gene:
                NLGN4X (Varview)
                Functional Consequence:
                coding_sequence_variant,synonymous_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                G=0./0 (ALFA)
                G=0.000004/1 (TOPMED)
                G=0.000005/1 (GnomAD_exomes)
                G=0.00001/1 (GnomAD)
                HGVS:
                NC_000023.11:g.5909112A>G, NC_000023.10:g.5827153A>G, NG_008881.2:g.324771T>C, NM_020742.4:c.753T>C, NM_020742.3:c.753T>C, NM_020742.2:c.753T>C, NM_181332.3:c.753T>C, NM_181332.2:c.753T>C, NM_181332.1:c.753T>C, NM_001282145.2:c.753T>C, NM_001282145.1:c.753T>C, NM_001282146.2:c.753T>C, NM_001282146.1:c.753T>C, XM_005274566.5:c.813T>C, XM_005274566.4:c.813T>C, XM_005274566.3:c.813T>C, XM_005274566.2:c.813T>C, XM_005274566.1:c.813T>C, XM_005274564.4:c.813T>C, XM_005274564.3:c.813T>C, XM_005274564.2:c.813T>C, XM_005274564.1:c.813T>C, XM_011545548.3:c.813T>C, XM_011545548.2:c.813T>C, XM_011545548.1:c.813T>C, XM_011545547.3:c.813T>C, XM_011545547.2:c.813T>C, XM_011545547.1:c.813T>C, XM_005274565.3:c.813T>C, XM_005274565.2:c.813T>C, XM_005274565.1:c.813T>C, XM_006724504.3:c.813T>C, XM_006724504.2:c.813T>C, XM_006724504.1:c.813T>C, XM_017029692.2:c.753T>C, XM_017029692.1:c.753T>C, XM_017029693.2:c.753T>C, XM_017029693.1:c.753T>C, XM_017029691.2:c.753T>C, XM_017029691.1:c.753T>C, XM_047442281.1:c.753T>C, XM_047442282.1:c.753T>C

                8.

                rs1481379135 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A [Show Flanks]
                  Chromosome:
                  X:6151188 (GRCh38)
                  X:6069229 (GRCh37)
                  Canonical SPDI:
                  NC_000023.11:6151187:G:A
                  Gene:
                  NLGN4X (Varview)
                  Functional Consequence:
                  coding_sequence_variant,synonymous_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  A=0./0 (ALFA)
                  A=0.00001/1 (GnomAD)
                  A=0.000011/3 (TOPMED)
                  HGVS:
                  NC_000023.11:g.6151188G>A, NC_000023.10:g.6069229G>A, NG_008881.2:g.82695C>T, NM_020742.4:c.279C>T, NM_020742.3:c.279C>T, NM_020742.2:c.279C>T, NM_181332.3:c.279C>T, NM_181332.2:c.279C>T, NM_181332.1:c.279C>T, NM_001282145.2:c.279C>T, NM_001282145.1:c.279C>T, NM_001282146.2:c.279C>T, NM_001282146.1:c.279C>T, XM_005274566.5:c.279C>T, XM_005274566.4:c.279C>T, XM_005274566.3:c.279C>T, XM_005274566.2:c.279C>T, XM_005274566.1:c.279C>T, XM_005274564.4:c.279C>T, XM_005274564.3:c.279C>T, XM_005274564.2:c.279C>T, XM_005274564.1:c.279C>T, XM_011545548.3:c.279C>T, XM_011545548.2:c.279C>T, XM_011545548.1:c.279C>T, XM_011545547.3:c.279C>T, XM_011545547.2:c.279C>T, XM_011545547.1:c.279C>T, XM_005274565.3:c.279C>T, XM_005274565.2:c.279C>T, XM_005274565.1:c.279C>T, XM_006724504.3:c.279C>T, XM_006724504.2:c.279C>T, XM_006724504.1:c.279C>T, XM_017029692.2:c.279C>T, XM_017029692.1:c.279C>T, XM_017029693.2:c.279C>T, XM_017029693.1:c.279C>T, XM_017029691.2:c.279C>T, XM_017029691.1:c.279C>T, XM_047442281.1:c.279C>T, XM_047442282.1:c.279C>T

                  9.

                  rs1480770358 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>T [Show Flanks]
                    Chromosome:
                    X:6151394 (GRCh38)
                    X:6069435 (GRCh37)
                    Canonical SPDI:
                    NC_000023.11:6151393:C:T
                    Gene:
                    NLGN4X (Varview)
                    Functional Consequence:
                    coding_sequence_variant,missense_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    T=0./0 (ALFA)
                    T=0.000004/1 (TOPMED)
                    T=0.00001/1 (GnomAD)
                    HGVS:
                    NC_000023.11:g.6151394C>T, NC_000023.10:g.6069435C>T, NG_008881.2:g.82489G>A, NM_020742.4:c.73G>A, NM_020742.3:c.73G>A, NM_020742.2:c.73G>A, NM_181332.3:c.73G>A, NM_181332.2:c.73G>A, NM_181332.1:c.73G>A, NM_001282145.2:c.73G>A, NM_001282145.1:c.73G>A, NM_001282146.2:c.73G>A, NM_001282146.1:c.73G>A, XM_005274566.5:c.73G>A, XM_005274566.4:c.73G>A, XM_005274566.3:c.73G>A, XM_005274566.2:c.73G>A, XM_005274566.1:c.73G>A, XM_005274564.4:c.73G>A, XM_005274564.3:c.73G>A, XM_005274564.2:c.73G>A, XM_005274564.1:c.73G>A, XM_011545548.3:c.73G>A, XM_011545548.2:c.73G>A, XM_011545548.1:c.73G>A, XM_011545547.3:c.73G>A, XM_011545547.2:c.73G>A, XM_011545547.1:c.73G>A, XM_005274565.3:c.73G>A, XM_005274565.2:c.73G>A, XM_005274565.1:c.73G>A, XM_006724504.3:c.73G>A, XM_006724504.2:c.73G>A, XM_006724504.1:c.73G>A, XM_017029692.2:c.73G>A, XM_017029692.1:c.73G>A, XM_017029693.2:c.73G>A, XM_017029693.1:c.73G>A, XM_017029691.2:c.73G>A, XM_017029691.1:c.73G>A, XM_047442281.1:c.73G>A, XM_047442282.1:c.73G>A, NP_065793.1:p.Val25Ile, NP_851849.1:p.Val25Ile, NP_001269074.1:p.Val25Ile, NP_001269075.1:p.Val25Ile, XP_005274623.1:p.Val25Ile, XP_005274621.1:p.Val25Ile, XP_011543850.1:p.Val25Ile, XP_011543849.1:p.Val25Ile, XP_005274622.1:p.Val25Ile, XP_006724567.1:p.Val25Ile, XP_016885181.1:p.Val25Ile, XP_016885182.1:p.Val25Ile, XP_016885180.1:p.Val25Ile, XP_047298237.1:p.Val25Ile, XP_047298238.1:p.Val25Ile

                    10.

                    rs1480526537 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>C [Show Flanks]
                      Chromosome:
                      X:5903601 (GRCh38)
                      X:5821642 (GRCh37)
                      Canonical SPDI:
                      NC_000023.11:5903600:T:C
                      Gene:
                      NLGN4X (Varview)
                      Functional Consequence:
                      coding_sequence_variant,synonymous_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      C=0./0 (ALFA)
                      C=0.000005/1 (GnomAD_exomes)
                      HGVS:
                      NC_000023.11:g.5903601T>C, NC_000023.10:g.5821642T>C, NG_008881.2:g.330282A>G, NM_020742.4:c.1077A>G, NM_020742.3:c.1077A>G, NM_020742.2:c.1077A>G, NM_181332.3:c.1077A>G, NM_181332.2:c.1077A>G, NM_181332.1:c.1077A>G, NM_001282145.2:c.1077A>G, NM_001282145.1:c.1077A>G, NM_001282146.2:c.1077A>G, NM_001282146.1:c.1077A>G, XM_005274566.5:c.1137A>G, XM_005274566.4:c.1137A>G, XM_005274566.3:c.1137A>G, XM_005274566.2:c.1137A>G, XM_005274566.1:c.1137A>G, XM_005274564.4:c.1137A>G, XM_005274564.3:c.1137A>G, XM_005274564.2:c.1137A>G, XM_005274564.1:c.1137A>G, XM_011545548.3:c.1137A>G, XM_011545548.2:c.1137A>G, XM_011545548.1:c.1137A>G, XM_011545547.3:c.1137A>G, XM_011545547.2:c.1137A>G, XM_011545547.1:c.1137A>G, XM_005274565.3:c.1137A>G, XM_005274565.2:c.1137A>G, XM_005274565.1:c.1137A>G, XM_006724504.3:c.1137A>G, XM_006724504.2:c.1137A>G, XM_006724504.1:c.1137A>G, XM_017029692.2:c.1077A>G, XM_017029692.1:c.1077A>G, XM_017029693.2:c.1077A>G, XM_017029693.1:c.1077A>G, XM_017029691.2:c.1077A>G, XM_017029691.1:c.1077A>G, XM_047442281.1:c.1077A>G, XM_047442282.1:c.1077A>G

                      11.

                      rs1479318947 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>T [Show Flanks]
                        Chromosome:
                        X:6151206 (GRCh38)
                        X:6069247 (GRCh37)
                        Canonical SPDI:
                        NC_000023.11:6151205:C:T
                        Gene:
                        NLGN4X (Varview)
                        Functional Consequence:
                        coding_sequence_variant,synonymous_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        T=0./0 (ALFA)
                        T=0.000011/2 (GnomAD_exomes)
                        HGVS:
                        NC_000023.11:g.6151206C>T, NC_000023.10:g.6069247C>T, NG_008881.2:g.82677G>A, NM_020742.4:c.261G>A, NM_020742.3:c.261G>A, NM_020742.2:c.261G>A, NM_181332.3:c.261G>A, NM_181332.2:c.261G>A, NM_181332.1:c.261G>A, NM_001282145.2:c.261G>A, NM_001282145.1:c.261G>A, NM_001282146.2:c.261G>A, NM_001282146.1:c.261G>A, XM_005274566.5:c.261G>A, XM_005274566.4:c.261G>A, XM_005274566.3:c.261G>A, XM_005274566.2:c.261G>A, XM_005274566.1:c.261G>A, XM_005274564.4:c.261G>A, XM_005274564.3:c.261G>A, XM_005274564.2:c.261G>A, XM_005274564.1:c.261G>A, XM_011545548.3:c.261G>A, XM_011545548.2:c.261G>A, XM_011545548.1:c.261G>A, XM_011545547.3:c.261G>A, XM_011545547.2:c.261G>A, XM_011545547.1:c.261G>A, XM_005274565.3:c.261G>A, XM_005274565.2:c.261G>A, XM_005274565.1:c.261G>A, XM_006724504.3:c.261G>A, XM_006724504.2:c.261G>A, XM_006724504.1:c.261G>A, XM_017029692.2:c.261G>A, XM_017029692.1:c.261G>A, XM_017029693.2:c.261G>A, XM_017029693.1:c.261G>A, XM_017029691.2:c.261G>A, XM_017029691.1:c.261G>A, XM_047442281.1:c.261G>A, XM_047442282.1:c.261G>A

                        12.

                        rs1478592023 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A [Show Flanks]
                          Chromosome:
                          X:5893295 (GRCh38)
                          X:5811336 (GRCh37)
                          Canonical SPDI:
                          NC_000023.11:5893294:G:A
                          Gene:
                          NLGN4X (Varview)
                          Functional Consequence:
                          coding_sequence_variant,missense_variant
                          HGVS:
                          NC_000023.11:g.5893295G>A, NC_000023.10:g.5811336G>A, NG_008881.2:g.340588C>T, NM_020742.4:c.1973C>T, NM_020742.3:c.1973C>T, NM_020742.2:c.1973C>T, NM_181332.3:c.1973C>T, NM_181332.2:c.1973C>T, NM_181332.1:c.1973C>T, NM_001282145.2:c.1973C>T, NM_001282145.1:c.1973C>T, NM_001282146.2:c.1973C>T, NM_001282146.1:c.1973C>T, XM_005274566.5:c.2033C>T, XM_005274566.4:c.2033C>T, XM_005274566.3:c.2033C>T, XM_005274566.2:c.2033C>T, XM_005274566.1:c.2033C>T, XM_005274564.4:c.2033C>T, XM_005274564.3:c.2033C>T, XM_005274564.2:c.2033C>T, XM_005274564.1:c.2033C>T, XM_011545548.3:c.2033C>T, XM_011545548.2:c.2033C>T, XM_011545548.1:c.2033C>T, XM_011545547.3:c.2033C>T, XM_011545547.2:c.2033C>T, XM_011545547.1:c.2033C>T, XM_005274565.3:c.2033C>T, XM_005274565.2:c.2033C>T, XM_005274565.1:c.2033C>T, XM_006724504.3:c.2033C>T, XM_006724504.2:c.2033C>T, XM_006724504.1:c.2033C>T, XM_017029692.2:c.1973C>T, XM_017029692.1:c.1973C>T, XM_017029693.2:c.1973C>T, XM_017029693.1:c.1973C>T, XM_017029691.2:c.1973C>T, XM_017029691.1:c.1973C>T, XM_047442281.1:c.1973C>T, XM_047442282.1:c.1973C>T, NP_065793.1:p.Pro658Leu, NP_851849.1:p.Pro658Leu, NP_001269074.1:p.Pro658Leu, NP_001269075.1:p.Pro658Leu, XP_005274623.1:p.Pro678Leu, XP_005274621.1:p.Pro678Leu, XP_011543850.1:p.Pro678Leu, XP_011543849.1:p.Pro678Leu, XP_005274622.1:p.Pro678Leu, XP_006724567.1:p.Pro678Leu, XP_016885181.1:p.Pro658Leu, XP_016885182.1:p.Pro658Leu, XP_016885180.1:p.Pro658Leu, XP_047298237.1:p.Pro658Leu, XP_047298238.1:p.Pro658Leu

                          13.

                          rs1477324412 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A [Show Flanks]
                            Chromosome:
                            X:5893396 (GRCh38)
                            X:5811437 (GRCh37)
                            Canonical SPDI:
                            NC_000023.11:5893395:G:A
                            Gene:
                            NLGN4X (Varview)
                            Functional Consequence:
                            coding_sequence_variant,synonymous_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            A=0./0 (ALFA)
                            HGVS:
                            NC_000023.11:g.5893396G>A, NC_000023.10:g.5811437G>A, NG_008881.2:g.340487C>T, NM_020742.4:c.1872C>T, NM_020742.3:c.1872C>T, NM_020742.2:c.1872C>T, NM_181332.3:c.1872C>T, NM_181332.2:c.1872C>T, NM_181332.1:c.1872C>T, NM_001282145.2:c.1872C>T, NM_001282145.1:c.1872C>T, NM_001282146.2:c.1872C>T, NM_001282146.1:c.1872C>T, XM_005274566.5:c.1932C>T, XM_005274566.4:c.1932C>T, XM_005274566.3:c.1932C>T, XM_005274566.2:c.1932C>T, XM_005274566.1:c.1932C>T, XM_005274564.4:c.1932C>T, XM_005274564.3:c.1932C>T, XM_005274564.2:c.1932C>T, XM_005274564.1:c.1932C>T, XM_011545548.3:c.1932C>T, XM_011545548.2:c.1932C>T, XM_011545548.1:c.1932C>T, XM_011545547.3:c.1932C>T, XM_011545547.2:c.1932C>T, XM_011545547.1:c.1932C>T, XM_005274565.3:c.1932C>T, XM_005274565.2:c.1932C>T, XM_005274565.1:c.1932C>T, XM_006724504.3:c.1932C>T, XM_006724504.2:c.1932C>T, XM_006724504.1:c.1932C>T, XM_017029692.2:c.1872C>T, XM_017029692.1:c.1872C>T, XM_017029693.2:c.1872C>T, XM_017029693.1:c.1872C>T, XM_017029691.2:c.1872C>T, XM_017029691.1:c.1872C>T, XM_047442281.1:c.1872C>T, XM_047442282.1:c.1872C>T

                            14.

                            rs1475006510 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>G [Show Flanks]
                              Chromosome:
                              X:6151351 (GRCh38)
                              X:6069392 (GRCh37)
                              Canonical SPDI:
                              NC_000023.11:6151350:A:G
                              Gene:
                              NLGN4X (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=0.000005/1 (GnomAD_exomes)
                              HGVS:
                              NC_000023.11:g.6151351A>G, NC_000023.10:g.6069392A>G, NG_008881.2:g.82532T>C, NM_020742.4:c.116T>C, NM_020742.3:c.116T>C, NM_020742.2:c.116T>C, NM_181332.3:c.116T>C, NM_181332.2:c.116T>C, NM_181332.1:c.116T>C, NM_001282145.2:c.116T>C, NM_001282145.1:c.116T>C, NM_001282146.2:c.116T>C, NM_001282146.1:c.116T>C, XM_005274566.5:c.116T>C, XM_005274566.4:c.116T>C, XM_005274566.3:c.116T>C, XM_005274566.2:c.116T>C, XM_005274566.1:c.116T>C, XM_005274564.4:c.116T>C, XM_005274564.3:c.116T>C, XM_005274564.2:c.116T>C, XM_005274564.1:c.116T>C, XM_011545548.3:c.116T>C, XM_011545548.2:c.116T>C, XM_011545548.1:c.116T>C, XM_011545547.3:c.116T>C, XM_011545547.2:c.116T>C, XM_011545547.1:c.116T>C, XM_005274565.3:c.116T>C, XM_005274565.2:c.116T>C, XM_005274565.1:c.116T>C, XM_006724504.3:c.116T>C, XM_006724504.2:c.116T>C, XM_006724504.1:c.116T>C, XM_017029692.2:c.116T>C, XM_017029692.1:c.116T>C, XM_017029693.2:c.116T>C, XM_017029693.1:c.116T>C, XM_017029691.2:c.116T>C, XM_017029691.1:c.116T>C, XM_047442281.1:c.116T>C, XM_047442282.1:c.116T>C, NP_065793.1:p.Ile39Thr, NP_851849.1:p.Ile39Thr, NP_001269074.1:p.Ile39Thr, NP_001269075.1:p.Ile39Thr, XP_005274623.1:p.Ile39Thr, XP_005274621.1:p.Ile39Thr, XP_011543850.1:p.Ile39Thr, XP_011543849.1:p.Ile39Thr, XP_005274622.1:p.Ile39Thr, XP_006724567.1:p.Ile39Thr, XP_016885181.1:p.Ile39Thr, XP_016885182.1:p.Ile39Thr, XP_016885180.1:p.Ile39Thr, XP_047298237.1:p.Ile39Thr, XP_047298238.1:p.Ile39Thr

                              15.

                              rs1473002369 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>T [Show Flanks]
                                Chromosome:
                                X:6151199 (GRCh38)
                                X:6069240 (GRCh37)
                                Canonical SPDI:
                                NC_000023.11:6151198:G:T
                                Gene:
                                NLGN4X (Varview)
                                Functional Consequence:
                                missense_variant,coding_sequence_variant
                                Validated:
                                by frequency
                                MAF:
                                T=0.000005/1 (GnomAD_exomes)
                                HGVS:
                                NC_000023.11:g.6151199G>T, NC_000023.10:g.6069240G>T, NG_008881.2:g.82684C>A, NM_020742.4:c.268C>A, NM_020742.3:c.268C>A, NM_020742.2:c.268C>A, NM_181332.3:c.268C>A, NM_181332.2:c.268C>A, NM_181332.1:c.268C>A, NM_001282145.2:c.268C>A, NM_001282145.1:c.268C>A, NM_001282146.2:c.268C>A, NM_001282146.1:c.268C>A, XM_005274566.5:c.268C>A, XM_005274566.4:c.268C>A, XM_005274566.3:c.268C>A, XM_005274566.2:c.268C>A, XM_005274566.1:c.268C>A, XM_005274564.4:c.268C>A, XM_005274564.3:c.268C>A, XM_005274564.2:c.268C>A, XM_005274564.1:c.268C>A, XM_011545548.3:c.268C>A, XM_011545548.2:c.268C>A, XM_011545548.1:c.268C>A, XM_011545547.3:c.268C>A, XM_011545547.2:c.268C>A, XM_011545547.1:c.268C>A, XM_005274565.3:c.268C>A, XM_005274565.2:c.268C>A, XM_005274565.1:c.268C>A, XM_006724504.3:c.268C>A, XM_006724504.2:c.268C>A, XM_006724504.1:c.268C>A, XM_017029692.2:c.268C>A, XM_017029692.1:c.268C>A, XM_017029693.2:c.268C>A, XM_017029693.1:c.268C>A, XM_017029691.2:c.268C>A, XM_017029691.1:c.268C>A, XM_047442281.1:c.268C>A, XM_047442282.1:c.268C>A, NP_065793.1:p.Pro90Thr, NP_851849.1:p.Pro90Thr, NP_001269074.1:p.Pro90Thr, NP_001269075.1:p.Pro90Thr, XP_005274623.1:p.Pro90Thr, XP_005274621.1:p.Pro90Thr, XP_011543850.1:p.Pro90Thr, XP_011543849.1:p.Pro90Thr, XP_005274622.1:p.Pro90Thr, XP_006724567.1:p.Pro90Thr, XP_016885181.1:p.Pro90Thr, XP_016885182.1:p.Pro90Thr, XP_016885180.1:p.Pro90Thr, XP_047298237.1:p.Pro90Thr, XP_047298238.1:p.Pro90Thr

                                16.

                                rs1465132314 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>G [Show Flanks]
                                  Chromosome:
                                  X:5893007 (GRCh38)
                                  X:5811048 (GRCh37)
                                  Canonical SPDI:
                                  NC_000023.11:5893006:A:G
                                  Gene:
                                  NLGN4X (Varview)
                                  Functional Consequence:
                                  missense_variant,coding_sequence_variant
                                  Validated:
                                  by frequency
                                  MAF:
                                  G=0.000005/1 (GnomAD_exomes)
                                  HGVS:
                                  NC_000023.11:g.5893007A>G, NC_000023.10:g.5811048A>G, NG_008881.2:g.340876T>C, NM_020742.4:c.2261T>C, NM_020742.3:c.2261T>C, NM_020742.2:c.2261T>C, NM_181332.3:c.2261T>C, NM_181332.2:c.2261T>C, NM_181332.1:c.2261T>C, NM_001282145.2:c.2261T>C, NM_001282145.1:c.2261T>C, NM_001282146.2:c.2261T>C, NM_001282146.1:c.2261T>C, XM_005274566.5:c.2321T>C, XM_005274566.4:c.2321T>C, XM_005274566.3:c.2321T>C, XM_005274566.2:c.2321T>C, XM_005274566.1:c.2321T>C, XM_005274564.4:c.2321T>C, XM_005274564.3:c.2321T>C, XM_005274564.2:c.2321T>C, XM_005274564.1:c.2321T>C, XM_011545548.3:c.2321T>C, XM_011545548.2:c.2321T>C, XM_011545548.1:c.2321T>C, XM_011545547.3:c.2321T>C, XM_011545547.2:c.2321T>C, XM_011545547.1:c.2321T>C, XM_005274565.3:c.2321T>C, XM_005274565.2:c.2321T>C, XM_005274565.1:c.2321T>C, XM_006724504.3:c.2321T>C, XM_006724504.2:c.2321T>C, XM_006724504.1:c.2321T>C, XM_017029692.2:c.2261T>C, XM_017029692.1:c.2261T>C, XM_017029693.2:c.2261T>C, XM_017029693.1:c.2261T>C, XM_017029691.2:c.2261T>C, XM_017029691.1:c.2261T>C, XM_047442281.1:c.2261T>C, XM_047442282.1:c.2261T>C, NP_065793.1:p.Leu754Pro, NP_851849.1:p.Leu754Pro, NP_001269074.1:p.Leu754Pro, NP_001269075.1:p.Leu754Pro, XP_005274623.1:p.Leu774Pro, XP_005274621.1:p.Leu774Pro, XP_011543850.1:p.Leu774Pro, XP_011543849.1:p.Leu774Pro, XP_005274622.1:p.Leu774Pro, XP_006724567.1:p.Leu774Pro, XP_016885181.1:p.Leu754Pro, XP_016885182.1:p.Leu754Pro, XP_016885180.1:p.Leu754Pro, XP_047298237.1:p.Leu754Pro, XP_047298238.1:p.Leu754Pro

                                  17.

                                  rs1464030718 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>T [Show Flanks]
                                    Chromosome:
                                    X:6029424 (GRCh38)
                                    X:5947465 (GRCh37)
                                    Canonical SPDI:
                                    NC_000023.11:6029423:C:T
                                    Gene:
                                    NLGN4X (Varview)
                                    Functional Consequence:
                                    missense_variant,coding_sequence_variant
                                    Validated:
                                    by frequency
                                    MAF:
                                    T=0.000005/1 (GnomAD_exomes)
                                    HGVS:
                                    NC_000023.11:g.6029424C>T, NC_000023.10:g.5947465C>T, NG_008881.2:g.204459G>A, NM_020742.4:c.481G>A, NM_020742.3:c.481G>A, NM_020742.2:c.481G>A, NM_181332.3:c.481G>A, NM_181332.2:c.481G>A, NM_181332.1:c.481G>A, NM_001282145.2:c.481G>A, NM_001282145.1:c.481G>A, NM_001282146.2:c.481G>A, NM_001282146.1:c.481G>A, XM_005274566.5:c.541G>A, XM_005274566.4:c.541G>A, XM_005274566.3:c.541G>A, XM_005274566.2:c.541G>A, XM_005274566.1:c.541G>A, XM_005274564.4:c.541G>A, XM_005274564.3:c.541G>A, XM_005274564.2:c.541G>A, XM_005274564.1:c.541G>A, XM_011545548.3:c.541G>A, XM_011545548.2:c.541G>A, XM_011545548.1:c.541G>A, XM_011545547.3:c.541G>A, XM_011545547.2:c.541G>A, XM_011545547.1:c.541G>A, XM_005274565.3:c.541G>A, XM_005274565.2:c.541G>A, XM_005274565.1:c.541G>A, XM_006724504.3:c.541G>A, XM_006724504.2:c.541G>A, XM_006724504.1:c.541G>A, XM_017029692.2:c.481G>A, XM_017029692.1:c.481G>A, XM_017029693.2:c.481G>A, XM_017029693.1:c.481G>A, XM_017029691.2:c.481G>A, XM_017029691.1:c.481G>A, XM_047442281.1:c.481G>A, XM_047442282.1:c.481G>A, NP_065793.1:p.Asp161Asn, NP_851849.1:p.Asp161Asn, NP_001269074.1:p.Asp161Asn, NP_001269075.1:p.Asp161Asn, XP_005274623.1:p.Asp181Asn, XP_005274621.1:p.Asp181Asn, XP_011543850.1:p.Asp181Asn, XP_011543849.1:p.Asp181Asn, XP_005274622.1:p.Asp181Asn, XP_006724567.1:p.Asp181Asn, XP_016885181.1:p.Asp161Asn, XP_016885182.1:p.Asp161Asn, XP_016885180.1:p.Asp161Asn, XP_047298237.1:p.Asp161Asn, XP_047298238.1:p.Asp161Asn

                                    18.

                                    rs1462523206 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A [Show Flanks]
                                      Chromosome:
                                      X:5903475 (GRCh38)
                                      X:5821516 (GRCh37)
                                      Canonical SPDI:
                                      NC_000023.11:5903474:G:A
                                      Gene:
                                      NLGN4X (Varview)
                                      Functional Consequence:
                                      synonymous_variant,coding_sequence_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      A=0./0 (ALFA)
                                      A=0.000004/1 (TOPMED)
                                      A=0.00001/1 (GnomAD)
                                      HGVS:
                                      NC_000023.11:g.5903475G>A, NC_000023.10:g.5821516G>A, NG_008881.2:g.330408C>T, NM_020742.4:c.1203C>T, NM_020742.3:c.1203C>T, NM_020742.2:c.1203C>T, NM_181332.3:c.1203C>T, NM_181332.2:c.1203C>T, NM_181332.1:c.1203C>T, NM_001282145.2:c.1203C>T, NM_001282145.1:c.1203C>T, NM_001282146.2:c.1203C>T, NM_001282146.1:c.1203C>T, XM_005274566.5:c.1263C>T, XM_005274566.4:c.1263C>T, XM_005274566.3:c.1263C>T, XM_005274566.2:c.1263C>T, XM_005274566.1:c.1263C>T, XM_005274564.4:c.1263C>T, XM_005274564.3:c.1263C>T, XM_005274564.2:c.1263C>T, XM_005274564.1:c.1263C>T, XM_011545548.3:c.1263C>T, XM_011545548.2:c.1263C>T, XM_011545548.1:c.1263C>T, XM_011545547.3:c.1263C>T, XM_011545547.2:c.1263C>T, XM_011545547.1:c.1263C>T, XM_005274565.3:c.1263C>T, XM_005274565.2:c.1263C>T, XM_005274565.1:c.1263C>T, XM_006724504.3:c.1263C>T, XM_006724504.2:c.1263C>T, XM_006724504.1:c.1263C>T, XM_017029692.2:c.1203C>T, XM_017029692.1:c.1203C>T, XM_017029693.2:c.1203C>T, XM_017029693.1:c.1203C>T, XM_017029691.2:c.1203C>T, XM_017029691.1:c.1203C>T, XM_047442281.1:c.1203C>T, XM_047442282.1:c.1203C>T

                                      19.

                                      rs1461164548 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>G [Show Flanks]
                                        Chromosome:
                                        X:5892824 (GRCh38)
                                        X:5810865 (GRCh37)
                                        Canonical SPDI:
                                        NC_000023.11:5892823:C:G
                                        Gene:
                                        NLGN4X (Varview)
                                        Functional Consequence:
                                        missense_variant,coding_sequence_variant
                                        Clinical significance:
                                        uncertain-significance
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        G=0./0 (ALFA)
                                        G=0.000004/1 (TOPMED)
                                        G=0.000005/1 (GnomAD_exomes)
                                        G=0.00001/1 (GnomAD)
                                        HGVS:
                                        NC_000023.11:g.5892824C>G, NC_000023.10:g.5810865C>G, NG_008881.2:g.341059G>C, NM_020742.4:c.2444G>C, NM_020742.3:c.2444G>C, NM_020742.2:c.2444G>C, NM_181332.3:c.2444G>C, NM_181332.2:c.2444G>C, NM_181332.1:c.2444G>C, NM_001282145.2:c.2444G>C, NM_001282145.1:c.2444G>C, NM_001282146.2:c.2444G>C, NM_001282146.1:c.2444G>C, XM_005274566.5:c.2504G>C, XM_005274566.4:c.2504G>C, XM_005274566.3:c.2504G>C, XM_005274566.2:c.2504G>C, XM_005274566.1:c.2504G>C, XM_005274564.4:c.2504G>C, XM_005274564.3:c.2504G>C, XM_005274564.2:c.2504G>C, XM_005274564.1:c.2504G>C, XM_011545548.3:c.2504G>C, XM_011545548.2:c.2504G>C, XM_011545548.1:c.2504G>C, XM_011545547.3:c.2504G>C, XM_011545547.2:c.2504G>C, XM_011545547.1:c.2504G>C, XM_005274565.3:c.2504G>C, XM_005274565.2:c.2504G>C, XM_005274565.1:c.2504G>C, XM_006724504.3:c.2504G>C, XM_006724504.2:c.2504G>C, XM_006724504.1:c.2504G>C, XM_017029692.2:c.2444G>C, XM_017029692.1:c.2444G>C, XM_017029693.2:c.2444G>C, XM_017029693.1:c.2444G>C, XM_017029691.2:c.2444G>C, XM_017029691.1:c.2444G>C, XM_047442281.1:c.2444G>C, XM_047442282.1:c.2444G>C, NP_065793.1:p.Arg815Thr, NP_851849.1:p.Arg815Thr, NP_001269074.1:p.Arg815Thr, NP_001269075.1:p.Arg815Thr, XP_005274623.1:p.Arg835Thr, XP_005274621.1:p.Arg835Thr, XP_011543850.1:p.Arg835Thr, XP_011543849.1:p.Arg835Thr, XP_005274622.1:p.Arg835Thr, XP_006724567.1:p.Arg835Thr, XP_016885181.1:p.Arg815Thr, XP_016885182.1:p.Arg815Thr, XP_016885180.1:p.Arg815Thr, XP_047298237.1:p.Arg815Thr, XP_047298238.1:p.Arg815Thr

                                        20.

                                        rs1460330547 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A [Show Flanks]
                                          Chromosome:
                                          X:6151011 (GRCh38)
                                          X:6069052 (GRCh37)
                                          Canonical SPDI:
                                          NC_000023.11:6151010:G:A
                                          Gene:
                                          NLGN4X (Varview)
                                          Functional Consequence:
                                          synonymous_variant,coding_sequence_variant
                                          Validated:
                                          by frequency
                                          MAF:
                                          A=0.000022/4 (GnomAD_exomes)
                                          HGVS:
                                          NC_000023.11:g.6151011G>A, NC_000023.10:g.6069052G>A, NG_008881.2:g.82872C>T, NM_020742.4:c.456C>T, NM_020742.3:c.456C>T, NM_020742.2:c.456C>T, NM_181332.3:c.456C>T, NM_181332.2:c.456C>T, NM_181332.1:c.456C>T, NM_001282145.2:c.456C>T, NM_001282145.1:c.456C>T, NM_001282146.2:c.456C>T, NM_001282146.1:c.456C>T, XM_005274566.5:c.456C>T, XM_005274566.4:c.456C>T, XM_005274566.3:c.456C>T, XM_005274566.2:c.456C>T, XM_005274566.1:c.456C>T, XM_005274564.4:c.456C>T, XM_005274564.3:c.456C>T, XM_005274564.2:c.456C>T, XM_005274564.1:c.456C>T, XM_011545548.3:c.456C>T, XM_011545548.2:c.456C>T, XM_011545548.1:c.456C>T, XM_011545547.3:c.456C>T, XM_011545547.2:c.456C>T, XM_011545547.1:c.456C>T, XM_005274565.3:c.456C>T, XM_005274565.2:c.456C>T, XM_005274565.1:c.456C>T, XM_006724504.3:c.456C>T, XM_006724504.2:c.456C>T, XM_006724504.1:c.456C>T, XM_017029692.2:c.456C>T, XM_017029692.1:c.456C>T, XM_017029693.2:c.456C>T, XM_017029693.1:c.456C>T, XM_017029691.2:c.456C>T, XM_017029691.1:c.456C>T, XM_047442281.1:c.456C>T, XM_047442282.1:c.456C>T

                                          Display Settings:

                                          Format
                                          Items per page
                                          Sort by

                                          Send to:

                                          Choose Destination

                                          Supplemental Content

                                          Filters: Manage Filters

                                          Find related data

                                          Recent activity

                                          Clear Turn Off Turn On

                                          Your browsing activity is empty.

                                          Activity recording is turned off.

                                          Turn recording back on

                                          See more...