U.S. flag

An official website of the United States government

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Search results

Items: 1 to 20 of 9075

1.

rs5981083 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>T [Show Flanks]
    Chromosome:
    X:71169800 (GRCh38)
    X:70389650 (GRCh37)
    Canonical SPDI:
    NC_000023.11:71169799:C:T
    Gene:
    NLGN3 (Varview)
    Functional Consequence:
    coding_sequence_variant,intron_variant,synonymous_variant
    Clinical significance:
    benign
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    T=0.006577/152 (ALFA)
    C=0./0 (SGDP_PRJ)
    T=0.000045/1 (TOMMO)
    T=0.003101/530 (GnomAD_exomes)
    T=0.00489/303 (ExAC)
    T=0.009157/35 (1000Genomes)
    T=0.009259/1 (Qatari)
    T=0.011129/1158 (GnomAD)
    T=0.01214/128 (GoESP)
    T=0.012573/3328 (TOPMED)
    HGVS:

    2.

    rs34927195 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      ->G [Show Flanks]
      Chromosome:
      X:71147958 (GRCh38)
      X:70367809 (GRCh37)
      Canonical SPDI:
      NC_000023.11:71147958:GGGGG:GGGGGG
      Gene:
      NLGN3 (Varview), LOC124905197 (Varview)
      Functional Consequence:
      intron_variant,coding_sequence_variant,frameshift_variant
      Clinical significance:
      pathogenic
      HGVS:

      3.

      rs35794236 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>G,T [Show Flanks]
        Chromosome:
        X:71155239 (GRCh38)
        X:70375089 (GRCh37)
        Canonical SPDI:
        NC_000023.11:71155238:C:G,NC_000023.11:71155238:C:T
        Gene:
        NLGN3 (Varview)
        Functional Consequence:
        coding_sequence_variant,synonymous_variant
        Clinical significance:
        uncertain-significance,likely-benign
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        T=0.00004/1 (ALFA)
        T=0.00004/1 (TOMMO)
        G=0.00104/11 (GoESP)
        G=0.00104/4 (1000Genomes)
        HGVS:
        NC_000023.11:g.71155239C>G, NC_000023.11:g.71155239C>T, NC_000023.10:g.70375089C>G, NC_000023.10:g.70375089C>T, NG_015874.1:g.15409C>G, NG_015874.1:g.15409C>T, NM_018977.4:c.543C>G, NM_018977.4:c.543C>T, NM_018977.3:c.543C>G, NM_018977.3:c.543C>T, NM_181303.2:c.603C>G, NM_181303.2:c.603C>T, NM_181303.1:c.603C>G, NM_181303.1:c.603C>T, NM_001166660.2:c.483C>G, NM_001166660.2:c.483C>T, NM_001166660.1:c.483C>G, NM_001166660.1:c.483C>T, NM_001321276.2:c.192C>G, NM_001321276.2:c.192C>T, NM_001321276.1:c.192C>G, NM_001321276.1:c.192C>T, XM_006724662.5:c.456C>G, XM_006724662.5:c.456C>T, XM_006724662.4:c.456C>G, XM_006724662.4:c.456C>T, XM_006724662.3:c.456C>G, XM_006724662.3:c.456C>T, XM_006724662.2:c.456C>G, XM_006724662.2:c.456C>T, XM_006724662.1:c.414C>G, XM_006724662.1:c.414C>T, XM_006724663.5:c.252C>G, XM_006724663.5:c.252C>T, XM_006724663.4:c.252C>G, XM_006724663.4:c.252C>T, XM_006724663.3:c.252C>G, XM_006724663.3:c.252C>T, XM_006724663.2:c.252C>G, XM_006724663.2:c.252C>T, XM_006724663.1:c.252C>G, XM_006724663.1:c.252C>T, XM_011530974.4:c.252C>G, XM_011530974.4:c.252C>T, XM_011530974.3:c.252C>G, XM_011530974.3:c.252C>T, XM_011530974.2:c.252C>G, XM_011530974.2:c.252C>T, XM_011530974.1:c.252C>G, XM_011530974.1:c.252C>T, XM_017029597.3:c.603C>G, XM_017029597.3:c.603C>T, XM_017029597.2:c.603C>G, XM_017029597.2:c.603C>T, XM_017029597.1:c.603C>G, XM_017029597.1:c.603C>T, XM_047442185.1:c.603C>G, XM_047442185.1:c.603C>T, XM_047442186.1:c.192C>G, XM_047442186.1:c.192C>T

        4.

        rs121917893 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>T [Show Flanks]
          Chromosome:
          X:71167508 (GRCh38)
          X:70387358 (GRCh37)
          Canonical SPDI:
          NC_000023.11:71167507:C:T
          Gene:
          NLGN3 (Varview)
          Functional Consequence:
          coding_sequence_variant,missense_variant
          Clinical significance:
          risk-factor
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          T=0./0 (ALFA)
          T=0.000008/2 (TOPMED)
          HGVS:
          NC_000023.11:g.71167508C>T, NC_000023.10:g.70387358C>T, NG_015874.1:g.27678C>T, NM_018977.4:c.1351C>T, NM_018977.3:c.1351C>T, NM_181303.2:c.1411C>T, NM_181303.1:c.1411C>T, NM_001166660.2:c.1291C>T, NM_001166660.1:c.1291C>T, NM_001321276.2:c.1000C>T, NM_001321276.1:c.1000C>T, XM_006724662.5:c.1264C>T, XM_006724662.4:c.1264C>T, XM_006724662.3:c.1264C>T, XM_006724662.2:c.1264C>T, XM_006724662.1:c.1222C>T, XM_006724663.5:c.1060C>T, XM_006724663.4:c.1060C>T, XM_006724663.3:c.1060C>T, XM_006724663.2:c.1060C>T, XM_006724663.1:c.1060C>T, XM_011530974.4:c.1060C>T, XM_011530974.3:c.1060C>T, XM_011530974.2:c.1060C>T, XM_011530974.1:c.1060C>T, XM_017029597.3:c.1411C>T, XM_017029597.2:c.1411C>T, XM_017029597.1:c.1411C>T, XM_047442185.1:c.1411C>T, XM_047442186.1:c.1000C>T, NP_061850.2:p.Arg451Cys, NP_851820.1:p.Arg471Cys, NP_001160132.1:p.Arg431Cys, NP_001308205.1:p.Arg334Cys, XP_006724725.2:p.Arg422Cys, XP_006724726.1:p.Arg354Cys, XP_011529276.1:p.Arg354Cys, XP_016885086.1:p.Arg471Cys, XP_047298141.1:p.Arg471Cys, XP_047298142.1:p.Arg334Cys

          LitVar

          5.

          rs138181564 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>G,T [Show Flanks]
            Chromosome:
            X:71169770 (GRCh38)
            X:70389620 (GRCh37)
            Canonical SPDI:
            NC_000023.11:71169769:C:G,NC_000023.11:71169769:C:T
            Gene:
            NLGN3 (Varview)
            Functional Consequence:
            coding_sequence_variant,synonymous_variant,intron_variant
            Clinical significance:
            likely-benign
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            T=0.000043/1 (ALFA)
            T=0./0 (ALSPAC)
            C=0./0 (SGDP_PRJ)
            T=0.000038/4 (GnomAD)
            T=0.000045/12 (TOPMED)
            G=0.000095/1 (GoESP)
            T=0.000208/1 (1000Genomes)
            T=0.00027/1 (TWINSUK)
            HGVS:
            NC_000023.11:g.71169770C>G, NC_000023.11:g.71169770C>T, NC_000023.10:g.70389620C>G, NC_000023.10:g.70389620C>T, NG_015874.1:g.29940C>G, NG_015874.1:g.29940C>T, NM_018977.4:c.2160C>G, NM_018977.4:c.2160C>T, NM_018977.3:c.2160C>G, NM_018977.3:c.2160C>T, NM_181303.2:c.2220C>G, NM_181303.2:c.2220C>T, NM_181303.1:c.2220C>G, NM_181303.1:c.2220C>T, NM_001166660.2:c.2100C>G, NM_001166660.2:c.2100C>T, NM_001166660.1:c.2100C>G, NM_001166660.1:c.2100C>T, NM_001321276.2:c.1809C>G, NM_001321276.2:c.1809C>T, NM_001321276.1:c.1809C>G, NM_001321276.1:c.1809C>T, XM_006724662.5:c.2073C>G, XM_006724662.5:c.2073C>T, XM_006724662.4:c.2073C>G, XM_006724662.4:c.2073C>T, XM_006724662.3:c.2073C>G, XM_006724662.3:c.2073C>T, XM_006724662.2:c.2073C>G, XM_006724662.2:c.2073C>T, XM_006724662.1:c.2031C>G, XM_006724662.1:c.2031C>T, XM_006724663.5:c.1869C>G, XM_006724663.5:c.1869C>T, XM_006724663.4:c.1869C>G, XM_006724663.4:c.1869C>T, XM_006724663.3:c.1869C>G, XM_006724663.3:c.1869C>T, XM_006724663.2:c.1869C>G, XM_006724663.2:c.1869C>T, XM_006724663.1:c.1869C>G, XM_006724663.1:c.1869C>T, XM_011530974.4:c.1869C>G, XM_011530974.4:c.1869C>T, XM_011530974.3:c.1869C>G, XM_011530974.3:c.1869C>T, XM_011530974.2:c.1869C>G, XM_011530974.2:c.1869C>T, XM_011530974.1:c.1869C>G, XM_011530974.1:c.1869C>T, XM_047442185.1:c.2220C>G, XM_047442185.1:c.2220C>T, XM_047442186.1:c.1809C>G, XM_047442186.1:c.1809C>T

            6.

            rs143055854 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>T [Show Flanks]
              Chromosome:
              X:71169584 (GRCh38)
              X:70389434 (GRCh37)
              Canonical SPDI:
              NC_000023.11:71169583:C:T
              Gene:
              NLGN3 (Varview)
              Functional Consequence:
              coding_sequence_variant,synonymous_variant,intron_variant
              Clinical significance:
              likely-benign,benign
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              T=0.001068/15 (ALFA)
              T=0.000257/47 (GnomAD_exomes)
              T=0.000385/33 (ExAC)
              T=0.000624/2 (1000Genomes)
              T=0.001041/11 (GoESP)
              T=0.001201/318 (TOPMED)
              T=0.001259/132 (GnomAD)
              HGVS:

              7.

              rs143817848 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A [Show Flanks]
                Chromosome:
                X:71148031 (GRCh38)
                X:70367881 (GRCh37)
                Canonical SPDI:
                NC_000023.11:71148030:G:A
                Gene:
                NLGN3 (Varview), LOC124905197 (Varview)
                Functional Consequence:
                coding_sequence_variant,synonymous_variant,intron_variant
                Clinical significance:
                likely-benign,conflicting-interpretations-of-pathogenicity
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                A=0.000071/1 (ALFA)
                A=0.000068/7 (GnomAD)
                A=0.000072/19 (TOPMED)
                A=0.000284/3 (GoESP)
                A=0.000345/63 (GnomAD_exomes)
                A=0.000373/32 (ExAC)
                A=0.000832/3 (1000Genomes)
                HGVS:

                8.

                rs144247281 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  T>C [Show Flanks]
                  Chromosome:
                  X:71155230 (GRCh38)
                  X:70375080 (GRCh37)
                  Canonical SPDI:
                  NC_000023.11:71155229:T:C
                  Gene:
                  NLGN3 (Varview)
                  Functional Consequence:
                  coding_sequence_variant,synonymous_variant
                  Clinical significance:
                  likely-benign,benign-likely-benign
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  C=0.000727/20 (ALFA)
                  C=0.00027/1 (TWINSUK)
                  C=0.000527/55 (GnomAD)
                  C=0.000623/165 (TOPMED)
                  C=0.000704/129 (GnomAD_exomes)
                  C=0.000832/3 (1000Genomes)
                  C=0.000871/75 (ExAC)
                  C=0.001038/3 (ALSPAC)
                  C=0.001136/12 (GoESP)
                  T=0.5/1 (SGDP_PRJ)
                  HGVS:

                  9.

                  rs144914894 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>G [Show Flanks]
                    Chromosome:
                    X:71169504 (GRCh38)
                    X:70389354 (GRCh37)
                    Canonical SPDI:
                    NC_000023.11:71169503:A:G
                    Gene:
                    NLGN3 (Varview)
                    Functional Consequence:
                    coding_sequence_variant,missense_variant,intron_variant
                    Clinical significance:
                    likely-benign,benign
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    G=0.003882/770 (ALFA)
                    A=0./0 (SGDP_PRJ)
                    G=0.000416/2 (1000Genomes)
                    G=0.001968/205 (GnomAD)
                    G=0.002263/413 (GnomAD_exomes)
                    G=0.002274/189 (ExAC)
                    G=0.002425/642 (TOPMED)
                    G=0.002936/31 (GoESP)
                    G=0.0045/13 (ALSPAC)
                    G=0.005394/20 (TWINSUK)
                    G=0.005618/3 (MGP)
                    HGVS:
                    NC_000023.11:g.71169504A>G, NC_000023.10:g.70389354A>G, NG_015874.1:g.29674A>G, NM_018977.4:c.1894A>G, NM_018977.3:c.1894A>G, NM_181303.2:c.1954A>G, NM_181303.1:c.1954A>G, NM_001166660.2:c.1834A>G, NM_001166660.1:c.1834A>G, NM_001321276.2:c.1543A>G, NM_001321276.1:c.1543A>G, XM_006724662.5:c.1807A>G, XM_006724662.4:c.1807A>G, XM_006724662.3:c.1807A>G, XM_006724662.2:c.1807A>G, XM_006724662.1:c.1765A>G, XM_006724663.5:c.1603A>G, XM_006724663.4:c.1603A>G, XM_006724663.3:c.1603A>G, XM_006724663.2:c.1603A>G, XM_006724663.1:c.1603A>G, XM_011530974.4:c.1603A>G, XM_011530974.3:c.1603A>G, XM_011530974.2:c.1603A>G, XM_011530974.1:c.1603A>G, XM_047442185.1:c.1954A>G, XM_047442186.1:c.1543A>G, NP_061850.2:p.Thr632Ala, NP_851820.1:p.Thr652Ala, NP_001160132.1:p.Thr612Ala, NP_001308205.1:p.Thr515Ala, XP_006724725.2:p.Thr603Ala, XP_006724726.1:p.Thr535Ala, XP_011529276.1:p.Thr535Ala, XP_047298141.1:p.Thr652Ala, XP_047298142.1:p.Thr515Ala

                    10.

                    rs146992370 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>T [Show Flanks]
                      Chromosome:
                      X:71169716 (GRCh38)
                      X:70389566 (GRCh37)
                      Canonical SPDI:
                      NC_000023.11:71169715:C:T
                      Gene:
                      NLGN3 (Varview)
                      Functional Consequence:
                      coding_sequence_variant,synonymous_variant,intron_variant
                      Clinical significance:
                      likely-benign
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      T=0./0 (ALFA)
                      T=0.000026/7 (TOPMED)
                      T=0.000027/5 (GnomAD_exomes)
                      T=0.000029/3 (GnomAD)
                      T=0.000048/4 (ExAC)
                      T=0.000189/2 (GoESP)
                      HGVS:

                      11.

                      rs151276700 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>T [Show Flanks]
                        Chromosome:
                        X:71164222 (GRCh38)
                        X:70384072 (GRCh37)
                        Canonical SPDI:
                        NC_000023.11:71164221:C:T
                        Gene:
                        NLGN3 (Varview)
                        Functional Consequence:
                        coding_sequence_variant,synonymous_variant
                        Clinical significance:
                        benign-likely-benign,benign
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        T=0.000872/24 (ALFA)
                        T=0.000379/4 (GoESP)
                        T=0.000416/2 (1000Genomes)
                        T=0.000484/128 (TOPMED)
                        T=0.000491/90 (GnomAD_exomes)
                        T=0.000558/48 (ExAC)
                        T=0.000644/68 (GnomAD)
                        T=0.000692/2 (ALSPAC)
                        T=0.000809/3 (TWINSUK)
                        HGVS:

                        12.

                        rs199925687 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>T [Show Flanks]
                          Chromosome:
                          X:71147769 (GRCh38)
                          X:70367619 (GRCh37)
                          Canonical SPDI:
                          NC_000023.11:71147768:C:T
                          Gene:
                          NLGN3 (Varview), LOC124905197 (Varview)
                          Functional Consequence:
                          missense_variant,coding_sequence_variant,intron_variant
                          Clinical significance:
                          uncertain-significance
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          T=0./0 (ALFA)
                          T=0.000092/5 (ExAC)
                          T=0.000098/26 (TOPMED)
                          T=0.000123/21 (GnomAD_exomes)
                          T=0.000192/20 (GnomAD)
                          T=0.000285/3 (GoESP)
                          T=0.000416/2 (1000Genomes)
                          HGVS:

                          13.

                          rs200889500 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>T [Show Flanks]
                            Chromosome:
                            X:71169949 (GRCh38)
                            X:70389799 (GRCh37)
                            Canonical SPDI:
                            NC_000023.11:71169948:C:T
                            Gene:
                            NLGN3 (Varview)
                            Functional Consequence:
                            missense_variant,coding_sequence_variant,intron_variant
                            Clinical significance:
                            uncertain-significance
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            T=0.000142/2 (ALFA)
                            T=0.000018/1 (ExAC)
                            T=0.000019/2 (GnomAD)
                            T=0.000024/4 (GnomAD_exomes)
                            T=0.000042/11 (TOPMED)
                            T=0.000208/1 (1000Genomes)
                            HGVS:
                            NC_000023.11:g.71169949C>T, NC_000023.10:g.70389799C>T, NG_015874.1:g.30119C>T, NM_018977.4:c.2339C>T, NM_018977.3:c.2339C>T, NM_181303.2:c.2399C>T, NM_181303.1:c.2399C>T, NM_001166660.2:c.2279C>T, NM_001166660.1:c.2279C>T, NM_001321276.2:c.1988C>T, NM_001321276.1:c.1988C>T, XM_006724662.5:c.2252C>T, XM_006724662.4:c.2252C>T, XM_006724662.3:c.2252C>T, XM_006724662.2:c.2252C>T, XM_006724662.1:c.2210C>T, XM_006724663.5:c.2048C>T, XM_006724663.4:c.2048C>T, XM_006724663.3:c.2048C>T, XM_006724663.2:c.2048C>T, XM_006724663.1:c.2048C>T, XM_011530974.4:c.2048C>T, XM_011530974.3:c.2048C>T, XM_011530974.2:c.2048C>T, XM_011530974.1:c.2048C>T, XM_047442185.1:c.2399C>T, XM_047442186.1:c.1988C>T, NP_061850.2:p.Pro780Leu, NP_851820.1:p.Pro800Leu, NP_001160132.1:p.Pro760Leu, NP_001308205.1:p.Pro663Leu, XP_006724725.2:p.Pro751Leu, XP_006724726.1:p.Pro683Leu, XP_011529276.1:p.Pro683Leu, XP_047298141.1:p.Pro800Leu, XP_047298142.1:p.Pro663Leu

                            14.

                            rs200899173 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>C,T [Show Flanks]
                              Chromosome:
                              X:71170048 (GRCh38)
                              X:70389898 (GRCh37)
                              Canonical SPDI:
                              NC_000023.11:71170047:G:C,NC_000023.11:71170047:G:T
                              Gene:
                              NLGN3 (Varview)
                              Functional Consequence:
                              missense_variant,coding_sequence_variant,intron_variant
                              Clinical significance:
                              uncertain-significance
                              HGVS:
                              NC_000023.11:g.71170048G>C, NC_000023.11:g.71170048G>T, NC_000023.10:g.70389898G>C, NC_000023.10:g.70389898G>T, NG_015874.1:g.30218G>C, NG_015874.1:g.30218G>T, NM_018977.4:c.2438G>C, NM_018977.4:c.2438G>T, NM_018977.3:c.2438G>C, NM_018977.3:c.2438G>T, NM_181303.2:c.2498G>C, NM_181303.2:c.2498G>T, NM_181303.1:c.2498G>C, NM_181303.1:c.2498G>T, NM_001166660.2:c.2378G>C, NM_001166660.2:c.2378G>T, NM_001166660.1:c.2378G>C, NM_001166660.1:c.2378G>T, NM_001321276.2:c.2087G>C, NM_001321276.2:c.2087G>T, NM_001321276.1:c.2087G>C, NM_001321276.1:c.2087G>T, XM_006724662.5:c.2351G>C, XM_006724662.5:c.2351G>T, XM_006724662.4:c.2351G>C, XM_006724662.4:c.2351G>T, XM_006724662.3:c.2351G>C, XM_006724662.3:c.2351G>T, XM_006724662.2:c.2351G>C, XM_006724662.2:c.2351G>T, XM_006724662.1:c.2309G>C, XM_006724662.1:c.2309G>T, XM_006724663.5:c.2147G>C, XM_006724663.5:c.2147G>T, XM_006724663.4:c.2147G>C, XM_006724663.4:c.2147G>T, XM_006724663.3:c.2147G>C, XM_006724663.3:c.2147G>T, XM_006724663.2:c.2147G>C, XM_006724663.2:c.2147G>T, XM_006724663.1:c.2147G>C, XM_006724663.1:c.2147G>T, XM_011530974.4:c.2147G>C, XM_011530974.4:c.2147G>T, XM_011530974.3:c.2147G>C, XM_011530974.3:c.2147G>T, XM_011530974.2:c.2147G>C, XM_011530974.2:c.2147G>T, XM_011530974.1:c.2147G>C, XM_011530974.1:c.2147G>T, XM_047442185.1:c.2498G>C, XM_047442185.1:c.2498G>T, XM_047442186.1:c.2087G>C, XM_047442186.1:c.2087G>T, NP_061850.2:p.Gly813Ala, NP_061850.2:p.Gly813Val, NP_851820.1:p.Gly833Ala, NP_851820.1:p.Gly833Val, NP_001160132.1:p.Gly793Ala, NP_001160132.1:p.Gly793Val, NP_001308205.1:p.Gly696Ala, NP_001308205.1:p.Gly696Val, XP_006724725.2:p.Gly784Ala, XP_006724725.2:p.Gly784Val, XP_006724726.1:p.Gly716Ala, XP_006724726.1:p.Gly716Val, XP_011529276.1:p.Gly716Ala, XP_011529276.1:p.Gly716Val, XP_047298141.1:p.Gly833Ala, XP_047298141.1:p.Gly833Val, XP_047298142.1:p.Gly696Ala, XP_047298142.1:p.Gly696Val

                              15.

                              rs202038845 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>G,T [Show Flanks]
                                Chromosome:
                                X:71164339 (GRCh38)
                                X:70384189 (GRCh37)
                                Canonical SPDI:
                                NC_000023.11:71164338:C:G,NC_000023.11:71164338:C:T
                                Gene:
                                NLGN3 (Varview)
                                Functional Consequence:
                                intron_variant
                                Clinical significance:
                                benign
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                G=0.000182/5 (ALFA)
                                G=0.000181/32 (GnomAD_exomes)
                                G=0.000189/2 (GoESP)
                                T=0.000208/1 (1000Genomes)
                                HGVS:

                                16.

                                rs368751962 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>T [Show Flanks]
                                  Chromosome:
                                  X:71169614 (GRCh38)
                                  X:70389464 (GRCh37)
                                  Canonical SPDI:
                                  NC_000023.11:71169613:C:T
                                  Gene:
                                  NLGN3 (Varview)
                                  Functional Consequence:
                                  synonymous_variant,coding_sequence_variant,intron_variant
                                  Clinical significance:
                                  likely-benign
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  T=0.00013/3 (ALFA)
                                  T=0./0 (ALSPAC)
                                  T=0.000012/1 (ExAC)
                                  T=0.000022/4 (GnomAD_exomes)
                                  T=0.000023/6 (TOPMED)
                                  T=0.000029/3 (GnomAD)
                                  T=0.000095/1 (GoESP)
                                  T=0.000539/2 (TWINSUK)
                                  HGVS:

                                  17.

                                  rs372131545 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>G,T [Show Flanks]
                                    Chromosome:
                                    X:71169920 (GRCh38)
                                    X:70389770 (GRCh37)
                                    Canonical SPDI:
                                    NC_000023.11:71169919:C:G,NC_000023.11:71169919:C:T
                                    Gene:
                                    NLGN3 (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,synonymous_variant,intron_variant
                                    Clinical significance:
                                    benign
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    T=0./0 (ALFA)
                                    T=0.000095/1 (GoESP)
                                    T=0.000249/40 (GnomAD_exomes)
                                    T=0.000399/20 (ExAC)
                                    T=0.000832/3 (1000Genomes)
                                    HGVS:
                                    NC_000023.11:g.71169920C>G, NC_000023.11:g.71169920C>T, NC_000023.10:g.70389770C>G, NC_000023.10:g.70389770C>T, NG_015874.1:g.30090C>G, NG_015874.1:g.30090C>T, NM_018977.4:c.2310C>G, NM_018977.4:c.2310C>T, NM_018977.3:c.2310C>G, NM_018977.3:c.2310C>T, NM_181303.2:c.2370C>G, NM_181303.2:c.2370C>T, NM_181303.1:c.2370C>G, NM_181303.1:c.2370C>T, NM_001166660.2:c.2250C>G, NM_001166660.2:c.2250C>T, NM_001166660.1:c.2250C>G, NM_001166660.1:c.2250C>T, NM_001321276.2:c.1959C>G, NM_001321276.2:c.1959C>T, NM_001321276.1:c.1959C>G, NM_001321276.1:c.1959C>T, XM_006724662.5:c.2223C>G, XM_006724662.5:c.2223C>T, XM_006724662.4:c.2223C>G, XM_006724662.4:c.2223C>T, XM_006724662.3:c.2223C>G, XM_006724662.3:c.2223C>T, XM_006724662.2:c.2223C>G, XM_006724662.2:c.2223C>T, XM_006724662.1:c.2181C>G, XM_006724662.1:c.2181C>T, XM_006724663.5:c.2019C>G, XM_006724663.5:c.2019C>T, XM_006724663.4:c.2019C>G, XM_006724663.4:c.2019C>T, XM_006724663.3:c.2019C>G, XM_006724663.3:c.2019C>T, XM_006724663.2:c.2019C>G, XM_006724663.2:c.2019C>T, XM_006724663.1:c.2019C>G, XM_006724663.1:c.2019C>T, XM_011530974.4:c.2019C>G, XM_011530974.4:c.2019C>T, XM_011530974.3:c.2019C>G, XM_011530974.3:c.2019C>T, XM_011530974.2:c.2019C>G, XM_011530974.2:c.2019C>T, XM_011530974.1:c.2019C>G, XM_011530974.1:c.2019C>T, XM_047442185.1:c.2370C>G, XM_047442185.1:c.2370C>T, XM_047442186.1:c.1959C>G, XM_047442186.1:c.1959C>T

                                    18.

                                    rs372993497 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A [Show Flanks]
                                      Chromosome:
                                      X:71147770 (GRCh38)
                                      X:70367620 (GRCh37)
                                      Canonical SPDI:
                                      NC_000023.11:71147769:G:A
                                      Gene:
                                      NLGN3 (Varview), LOC124905197 (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,synonymous_variant,intron_variant
                                      Clinical significance:
                                      likely-benign
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      A=0.000142/2 (ALFA)
                                      A=0.000079/21 (TOPMED)
                                      A=0.000095/1 (GoESP)
                                      A=0.000106/18 (GnomAD_exomes)
                                      A=0.00011/6 (ExAC)
                                      A=0.000115/12 (GnomAD)
                                      HGVS:

                                      19.

                                      rs374424855 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>T [Show Flanks]
                                        Chromosome:
                                        X:71167210 (GRCh38)
                                        X:70387060 (GRCh37)
                                        Canonical SPDI:
                                        NC_000023.11:71167209:C:T
                                        Gene:
                                        NLGN3 (Varview)
                                        Functional Consequence:
                                        coding_sequence_variant,synonymous_variant
                                        Clinical significance:
                                        likely-benign
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        T=0.00026/6 (ALFA)
                                        T=0./0 (ALSPAC)
                                        T=0.000095/1 (GoESP)
                                        T=0.000125/13 (GnomAD)
                                        T=0.000136/25 (GnomAD_exomes)
                                        T=0.000155/41 (TOPMED)
                                        T=0.000183/16 (ExAC)
                                        T=0.00027/1 (TWINSUK)
                                        HGVS:

                                        20.

                                        rs376877146 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>A,T [Show Flanks]
                                          Chromosome:
                                          X:71147759 (GRCh38)
                                          X:70367609 (GRCh37)
                                          Canonical SPDI:
                                          NC_000023.11:71147758:C:A,NC_000023.11:71147758:C:T
                                          Gene:
                                          NLGN3 (Varview), LOC124905197 (Varview)
                                          Functional Consequence:
                                          missense_variant,coding_sequence_variant,synonymous_variant,intron_variant
                                          Clinical significance:
                                          benign,conflicting-interpretations-of-pathogenicity,likely-benign
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          T=0.000087/2 (ALFA)
                                          C=0./0 (SGDP_PRJ)
                                          T=0.000097/1 (GoESP)
                                          T=0.000718/120 (GnomAD_exomes)
                                          T=0.001023/50 (ExAC)
                                          T=0.001665/6 (1000Genomes)
                                          HGVS:

                                          Display Settings:

                                          Format
                                          Items per page
                                          Sort by

                                          Send to:

                                          Choose Destination

                                          Supplemental Content

                                          Filters: Manage Filters

                                          Find related data

                                          Search details

                                          See more...

                                          Recent activity

                                          Clear Turn Off Turn On

                                          Your browsing activity is empty.

                                          Activity recording is turned off.

                                          Turn recording back on

                                          See more...