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Items: 1 to 20 of 20441

1.

rs1491429503 [Homo sapiens]
    Variant type:
    DEL
    Alleles:
    CA>- [Show Flanks]
    Chromosome:
    X:150892605 (GRCh38)
    X:150061078 (GRCh37)
    Canonical SPDI:
    NC_000023.11:150892604:CA:
    Gene:
    CD99L2 (Varview)
    Functional Consequence:
    intron_variant,genic_upstream_transcript_variant
    Validated:
    by frequency,by alfa
    MAF:
    -=0.00185/22 (ALFA)
    -=0.00008/1 (TOMMO)
    HGVS:
    2.

    rs1491355203 has merged into rs782516457 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      AAAAAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
      Chromosome:
      X:150867906 (GRCh38)
      X:150036379 (GRCh37)
      Canonical SPDI:
      NC_000023.11:150867892:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000023.11:150867892:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000023.11:150867892:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000023.11:150867892:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000023.11:150867892:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000023.11:150867892:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000023.11:150867892:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000023.11:150867892:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000023.11:150867892:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000023.11:150867892:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:150867892:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:150867892:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:150867892:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:150867892:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:150867892:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:150867892:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:150867892:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:150867892:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:150867892:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:150867892:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
      Gene:
      CD99L2 (Varview)
      Functional Consequence:
      intron_variant,genic_upstream_transcript_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      AAAAAAAAAAAAA=0./0 (ALFA)
      AAAAAAAAAAAAAAAA=0./0 (GENOME_DK)
      HGVS:
      NC_000023.11:g.150867906_150867922del, NC_000023.11:g.150867907_150867922del, NC_000023.11:g.150867908_150867922del, NC_000023.11:g.150867909_150867922del, NC_000023.11:g.150867910_150867922del, NC_000023.11:g.150867911_150867922del, NC_000023.11:g.150867912_150867922del, NC_000023.11:g.150867913_150867922del, NC_000023.11:g.150867914_150867922del, NC_000023.11:g.150867915_150867922del, NC_000023.11:g.150867916_150867922del, NC_000023.11:g.150867918_150867922del, NC_000023.11:g.150867919_150867922del, NC_000023.11:g.150867920_150867922del, NC_000023.11:g.150867921_150867922del, NC_000023.11:g.150867922del, NC_000023.11:g.150867922dup, NC_000023.11:g.150867921_150867922dup, NC_000023.11:g.150867920_150867922dup, NC_000023.11:g.150867911_150867922dup, NC_000023.10:g.150036379_150036395del, NC_000023.10:g.150036380_150036395del, NC_000023.10:g.150036381_150036395del, NC_000023.10:g.150036382_150036395del, NC_000023.10:g.150036383_150036395del, NC_000023.10:g.150036384_150036395del, NC_000023.10:g.150036385_150036395del, NC_000023.10:g.150036386_150036395del, NC_000023.10:g.150036387_150036395del, NC_000023.10:g.150036388_150036395del, NC_000023.10:g.150036389_150036395del, NC_000023.10:g.150036391_150036395del, NC_000023.10:g.150036392_150036395del, NC_000023.10:g.150036393_150036395del, NC_000023.10:g.150036394_150036395del, NC_000023.10:g.150036395del, NC_000023.10:g.150036395dup, NC_000023.10:g.150036394_150036395dup, NC_000023.10:g.150036393_150036395dup, NC_000023.10:g.150036384_150036395dup, NG_021320.2:g.35908_35924del, NG_021320.2:g.35909_35924del, NG_021320.2:g.35910_35924del, NG_021320.2:g.35911_35924del, NG_021320.2:g.35912_35924del, NG_021320.2:g.35913_35924del, NG_021320.2:g.35914_35924del, NG_021320.2:g.35915_35924del, NG_021320.2:g.35916_35924del, NG_021320.2:g.35917_35924del, NG_021320.2:g.35918_35924del, NG_021320.2:g.35920_35924del, NG_021320.2:g.35921_35924del, NG_021320.2:g.35922_35924del, NG_021320.2:g.35923_35924del, NG_021320.2:g.35924del, NG_021320.2:g.35924dup, NG_021320.2:g.35923_35924dup, NG_021320.2:g.35922_35924dup, NG_021320.2:g.35913_35924dup, NW_004070890.2:g.6392304_6392320del, NW_004070890.2:g.6392305_6392320del, NW_004070890.2:g.6392306_6392320del, NW_004070890.2:g.6392307_6392320del, NW_004070890.2:g.6392308_6392320del, NW_004070890.2:g.6392309_6392320del, NW_004070890.2:g.6392310_6392320del, NW_004070890.2:g.6392311_6392320del, NW_004070890.2:g.6392312_6392320del, NW_004070890.2:g.6392313_6392320del, NW_004070890.2:g.6392314_6392320del, NW_004070890.2:g.6392316_6392320del, NW_004070890.2:g.6392317_6392320del, NW_004070890.2:g.6392318_6392320del, NW_004070890.2:g.6392319_6392320del, NW_004070890.2:g.6392320del, NW_004070890.2:g.6392320dup, NW_004070890.2:g.6392319_6392320dup, NW_004070890.2:g.6392318_6392320dup, NW_004070890.2:g.6392309_6392320dup
      3.

      rs1491257966 [Homo sapiens]
        Variant type:
        DEL
        Alleles:
        TA>- [Show Flanks]
        Chromosome:
        X:150848556 (GRCh38)
        X:150017029 (GRCh37)
        Canonical SPDI:
        NC_000023.11:150848555:TA:
        Gene:
        CD99L2 (Varview)
        Functional Consequence:
        intron_variant,genic_upstream_transcript_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        -=0.00013/2 (ALFA)
        -=0.00031/11 (GnomAD)
        HGVS:
        4.

        rs1491182001 [Homo sapiens]
          Variant type:
          DEL
          Alleles:
          CA>- [Show Flanks]
          Chromosome:
          X:150867892 (GRCh38)
          X:150036365 (GRCh37)
          Canonical SPDI:
          NC_000023.11:150867891:CA:
          Gene:
          CD99L2 (Varview)
          Functional Consequence:
          intron_variant,genic_upstream_transcript_variant
          Validated:
          by frequency,by alfa
          MAF:
          -=0./0 (ALFA)
          HGVS:
          5.

          rs1491155925 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            ->GGGGTG [Show Flanks]
            Chromosome:
            X:150840877 (GRCh38)
            X:150009351 (GRCh37)
            Canonical SPDI:
            NC_000023.11:150840877:TGGGGGTGGGGGTG:TGGGGGTGGGGGTGGGGGTG
            Gene:
            CD99L2 (Varview)
            Functional Consequence:
            intron_variant,genic_upstream_transcript_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            TGGGGGTGGGGGTGGGGGTG=0.00101/12 (ALFA)
            HGVS:
            6.

            rs1490997794 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>C [Show Flanks]
              Chromosome:
              X:150870014 (GRCh38)
              X:150038487 (GRCh37)
              Canonical SPDI:
              NC_000023.11:150870013:G:C
              Gene:
              CD99L2 (Varview)
              Functional Consequence:
              intron_variant,genic_upstream_transcript_variant
              Validated:
              by frequency,by alfa
              MAF:
              C=0./0 (ALFA)
              C=0.000008/2 (TOPMED)
              HGVS:
              8.

              rs1490943839 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                TCT>- [Show Flanks]
                Chromosome:
                X:150774758 (GRCh38)
                X:149943231 (GRCh37)
                Canonical SPDI:
                NC_000023.11:150774755:CTTCT:CT
                Gene:
                CD99L2 (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                CT=0./0 (ALFA)
                -=0.000008/2 (TOPMED)
                -=0.00001/1 (GnomAD)
                HGVS:
                9.

                rs1490929577 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  T>A [Show Flanks]
                  Chromosome:
                  X:150849397 (GRCh38)
                  X:150017870 (GRCh37)
                  Canonical SPDI:
                  NC_000023.11:150849396:T:A
                  Gene:
                  CD99L2 (Varview)
                  Functional Consequence:
                  intron_variant,genic_upstream_transcript_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  A=0./0 (ALFA)
                  A=0.000053/14 (TOPMED)
                  A=0.000058/6 (GnomAD)
                  HGVS:
                  10.

                  rs1490893361 has merged into rs372216723 [Homo sapiens]
                    Variant type:
                    DELINS
                    Alleles:
                    CC>-,C,CCC,CCCC,CCCCC,CCCCCC [Show Flanks]
                    Chromosome:
                    X:150848121 (GRCh38)
                    X:150016594 (GRCh37)
                    Canonical SPDI:
                    NC_000023.11:150848111:CCCCCCCCCCC:CCCCCCCCC,NC_000023.11:150848111:CCCCCCCCCCC:CCCCCCCCCC,NC_000023.11:150848111:CCCCCCCCCCC:CCCCCCCCCCCC,NC_000023.11:150848111:CCCCCCCCCCC:CCCCCCCCCCCCC,NC_000023.11:150848111:CCCCCCCCCCC:CCCCCCCCCCCCCC,NC_000023.11:150848111:CCCCCCCCCCC:CCCCCCCCCCCCCCC
                    Gene:
                    CD99L2 (Varview)
                    Functional Consequence:
                    intron_variant,genic_upstream_transcript_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    CCCCCCCCCCCCCCC=0./0 (ALFA)
                    C=0.21854/825 (1000Genomes)
                    HGVS:
                    11.

                    rs1490837821 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>G [Show Flanks]
                      Chromosome:
                      X:150768043 (GRCh38)
                      X:149936516 (GRCh37)
                      Canonical SPDI:
                      NC_000023.11:150768042:C:G
                      Gene:
                      CD99L2 (Varview)
                      Functional Consequence:
                      3_prime_UTR_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      G=0.000071/1 (ALFA)
                      G=0.00001/1 (GnomAD)
                      G=0.000026/7 (TOPMED)
                      HGVS:
                      12.

                      rs1490734934 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>T [Show Flanks]
                        Chromosome:
                        X:150892859 (GRCh38)
                        X:150061332 (GRCh37)
                        Canonical SPDI:
                        NC_000023.11:150892858:C:T
                        Gene:
                        CD99L2 (Varview)
                        Functional Consequence:
                        intron_variant,genic_upstream_transcript_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        T=0./0 (ALFA)
                        T=0.000034/9 (TOPMED)
                        T=0.000048/5 (GnomAD)
                        HGVS:
                        13.

                        rs1490729495 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A [Show Flanks]
                          Chromosome:
                          X:150816273 (GRCh38)
                          X:149984746 (GRCh37)
                          Canonical SPDI:
                          NC_000023.11:150816272:G:A
                          Gene:
                          CD99L2 (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          A=0./0 (ALFA)
                          A=0.000026/7 (TOPMED)
                          A=0.000038/4 (GnomAD)
                          HGVS:
                          14.

                          rs1490704924 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>C [Show Flanks]
                            Chromosome:
                            X:150891909 (GRCh38)
                            X:150060382 (GRCh37)
                            Canonical SPDI:
                            NC_000023.11:150891908:A:C
                            Gene:
                            CD99L2 (Varview)
                            Functional Consequence:
                            intron_variant,genic_upstream_transcript_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            C=0./0 (ALFA)
                            C=0.000004/1 (TOPMED)
                            C=0.00001/1 (GnomAD)
                            HGVS:
                            15.
                            16.

                            rs1490645887 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A [Show Flanks]
                              Chromosome:
                              X:150837660 (GRCh38)
                              X:150006133 (GRCh37)
                              Canonical SPDI:
                              NC_000023.11:150837659:G:A
                              Gene:
                              CD99L2 (Varview)
                              Functional Consequence:
                              intron_variant,genic_upstream_transcript_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              A=0.000071/1 (ALFA)
                              A=0.000011/3 (TOPMED)
                              HGVS:
                              17.

                              rs1490633413 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>A,C,G [Show Flanks]
                                Chromosome:
                                X:150817035 (GRCh38)
                                X:149985508 (GRCh37)
                                Canonical SPDI:
                                NC_000023.11:150817034:T:A,NC_000023.11:150817034:T:C,NC_000023.11:150817034:T:G
                                Gene:
                                CD99L2 (Varview)
                                Functional Consequence:
                                intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                G=0./0 (ALFA)
                                A=0.00002/1 (GnomAD)
                                HGVS:
                                18.

                                rs1490610567 [Homo sapiens]
                                  Variant type:
                                  DEL
                                  Alleles:
                                  GG>- [Show Flanks]
                                  Chromosome:
                                  X:150836255 (GRCh38)
                                  X:150004728 (GRCh37)
                                  Canonical SPDI:
                                  NC_000023.11:150836254:GG:
                                  Gene:
                                  CD99L2 (Varview)
                                  Functional Consequence:
                                  intron_variant,genic_upstream_transcript_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  -=0./0 (ALFA)
                                  -=0.000011/3 (TOPMED)
                                  -=0.000048/5 (GnomAD)
                                  HGVS:
                                  19.

                                  rs1490568000 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A [Show Flanks]
                                    Chromosome:
                                    X:150815654 (GRCh38)
                                    X:149984127 (GRCh37)
                                    Canonical SPDI:
                                    NC_000023.11:150815653:G:A
                                    Gene:
                                    CD99L2 (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    A=0.000071/1 (ALFA)
                                    A=0.000045/12 (TOPMED)
                                    A=0.000048/5 (GnomAD)
                                    HGVS:
                                    20.

                                    rs1490554353 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A [Show Flanks]
                                      Chromosome:
                                      X:150794999 (GRCh38)
                                      X:149963472 (GRCh37)
                                      Canonical SPDI:
                                      NC_000023.11:150794998:G:A
                                      Gene:
                                      CD99L2 (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      A=0./0 (ALFA)
                                      A=0.000004/1 (TOPMED)
                                      A=0.00001/1 (GnomAD)
                                      HGVS:

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