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Items: 1 to 20 of 1000

1.

rs1490746115 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>A,T [Show Flanks]
    Chromosome:
    10:102399642 (GRCh38)
    10:104159399 (GRCh37)
    Canonical SPDI:
    NC_000010.11:102399641:G:A,NC_000010.11:102399641:G:T
    Gene:
    NFKB2 (Varview)
    Functional Consequence:
    missense_variant,coding_sequence_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    T=0./0 (ALFA)
    T=0.000004/1 (TOPMED)
    A=0.000008/1 (GnomAD_exomes)
    HGVS:
    NC_000010.11:g.102399642G>A, NC_000010.11:g.102399642G>T, NC_000010.10:g.104159399G>A, NC_000010.10:g.104159399G>T, NG_033874.2:g.10533G>A, NG_033874.2:g.10533G>T, NM_002502.6:c.1393G>A, NM_002502.6:c.1393G>T, NM_002502.5:c.1393G>A, NM_002502.5:c.1393G>T, NM_002502.4:c.1393G>A, NM_002502.4:c.1393G>T, NM_001077494.3:c.1393G>A, NM_001077494.3:c.1393G>T, NM_001077494.2:c.1393G>A, NM_001077494.2:c.1393G>T, NM_001261403.3:c.1393G>A, NM_001261403.3:c.1393G>T, NM_001261403.2:c.1393G>A, NM_001261403.2:c.1393G>T, NM_001261403.1:c.1393G>A, NM_001261403.1:c.1393G>T, NM_001322934.2:c.1393G>A, NM_001322934.2:c.1393G>T, NM_001322934.1:c.1393G>A, NM_001322934.1:c.1393G>T, NM_001288724.1:c.1393G>A, NM_001288724.1:c.1393G>T, NM_001322935.1:c.1267G>A, NM_001322935.1:c.1267G>T, NR_048560.1:n.1956G>A, NR_048560.1:n.1956G>T, NM_001077493.1:c.1393G>A, NM_001077493.1:c.1393G>T, NP_002493.3:p.Gly465Ser, NP_002493.3:p.Gly465Cys, NP_001070962.1:p.Gly465Ser, NP_001070962.1:p.Gly465Cys, NP_001248332.1:p.Gly465Ser, NP_001248332.1:p.Gly465Cys, NP_001309863.1:p.Gly465Ser, NP_001309863.1:p.Gly465Cys, NP_001275653.1:p.Gly465Ser, NP_001275653.1:p.Gly465Cys, NP_001309864.1:p.Gly423Ser, NP_001309864.1:p.Gly423Cys

    2.

    rs1489953740 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>G [Show Flanks]
      Chromosome:
      10:102399479 (GRCh38)
      10:104159236 (GRCh37)
      Canonical SPDI:
      NC_000010.11:102399478:C:G
      Gene:
      NFKB2 (Varview)
      Functional Consequence:
      missense_variant,coding_sequence_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      G=0./0 (ALFA)
      G=0.000004/1 (TOPMED)
      HGVS:

      3.

      rs1489898837 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>T [Show Flanks]
        Chromosome:
        10:102400362 (GRCh38)
        10:104160119 (GRCh37)
        Canonical SPDI:
        NC_000010.11:102400361:G:T
        Gene:
        NFKB2 (Varview)
        Functional Consequence:
        missense_variant,coding_sequence_variant
        HGVS:

        4.

        rs1488705625 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A [Show Flanks]
          Chromosome:
          10:102401869 (GRCh38)
          10:104161626 (GRCh37)
          Canonical SPDI:
          NC_000010.11:102401868:G:A
          Gene:
          NFKB2 (Varview)
          Functional Consequence:
          synonymous_variant,coding_sequence_variant
          Clinical significance:
          likely-benign
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          A=0./0 (ALFA)
          A=0.000004/1 (GnomAD_exomes)
          A=0.000004/1 (TOPMED)
          A=0.000007/1 (GnomAD)
          HGVS:

          5.

          rs1486109142 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>A,T [Show Flanks]
            Chromosome:
            10:102394119 (GRCh38)
            10:104153876 (GRCh37)
            Canonical SPDI:
            NC_000010.11:102394118:C:A,NC_000010.11:102394118:C:T
            Gene:
            NFKB2 (Varview)
            Functional Consequence:
            5_prime_UTR_variant,upstream_transcript_variant,genic_upstream_transcript_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            T=0./0 (ALFA)
            T=0.000007/1 (GnomAD)
            T=0.000015/4 (TOPMED)
            HGVS:

            6.

            rs1485873314 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>G [Show Flanks]
              Chromosome:
              10:102396323 (GRCh38)
              10:104156080 (GRCh37)
              Canonical SPDI:
              NC_000010.11:102396322:C:G
              Gene:
              NFKB2 (Varview)
              Functional Consequence:
              coding_sequence_variant,missense_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              G=0./0 (ALFA)
              G=0.000007/1 (GnomAD)
              G=0.000015/4 (TOPMED)
              HGVS:

              7.

              rs1485779239 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A [Show Flanks]
                Chromosome:
                10:102399434 (GRCh38)
                10:104159191 (GRCh37)
                Canonical SPDI:
                NC_000010.11:102399433:G:A
                Gene:
                NFKB2 (Varview)
                Functional Consequence:
                coding_sequence_variant,missense_variant
                HGVS:

                8.

                rs1484118237 [Homo sapiens]
                  Variant type:
                  DELINS
                  Alleles:
                  TGC>- [Show Flanks]
                  Chromosome:
                  10:102399489 (GRCh38)
                  10:104159246 (GRCh37)
                  Canonical SPDI:
                  NC_000010.11:102399485:TGCTGC:TGC
                  Gene:
                  NFKB2 (Varview)
                  Functional Consequence:
                  coding_sequence_variant,inframe_deletion
                  Validated:
                  by frequency
                  MAF:
                  -=0.00002/2 (GnomAD_exomes)
                  HGVS:

                  9.

                  rs1483460853 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A,T [Show Flanks]
                    Chromosome:
                    10:102394490 (GRCh38)
                    10:104154247 (GRCh37)
                    Canonical SPDI:
                    NC_000010.11:102394489:G:A,NC_000010.11:102394489:G:T
                    Gene:
                    NFKB2 (Varview)
                    Functional Consequence:
                    5_prime_UTR_variant,upstream_transcript_variant,genic_upstream_transcript_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    T=0./0 (ALFA)
                    A=0.000019/5 (TOPMED)
                    HGVS:

                    10.

                    rs1482942916 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>G [Show Flanks]
                      Chromosome:
                      10:102398812 (GRCh38)
                      10:104158569 (GRCh37)
                      Canonical SPDI:
                      NC_000010.11:102398811:C:G
                      Gene:
                      NFKB2 (Varview)
                      Functional Consequence:
                      coding_sequence_variant,intron_variant,missense_variant
                      Clinical significance:
                      uncertain-significance
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      G=0./0 (ALFA)
                      G=0./0 (GnomAD)
                      G=0.000004/1 (GnomAD_exomes)
                      HGVS:

                      11.

                      rs1482556968 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>T [Show Flanks]
                        Chromosome:
                        10:102399673 (GRCh38)
                        10:104159430 (GRCh37)
                        Canonical SPDI:
                        NC_000010.11:102399672:C:T
                        Gene:
                        NFKB2 (Varview)
                        Functional Consequence:
                        coding_sequence_variant,missense_variant
                        Clinical significance:
                        uncertain-significance
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        T=0.000071/1 (ALFA)
                        T=0.000011/3 (TOPMED)
                        T=0.000014/2 (GnomAD)
                        HGVS:

                        12.

                        rs1482075423 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A [Show Flanks]
                          Chromosome:
                          10:102398227 (GRCh38)
                          10:104157984 (GRCh37)
                          Canonical SPDI:
                          NC_000010.11:102398226:G:A
                          Gene:
                          NFKB2 (Varview)
                          Functional Consequence:
                          coding_sequence_variant,missense_variant
                          Validated:
                          by frequency
                          MAF:
                          A=0.000004/1 (GnomAD_exomes)
                          HGVS:

                          13.

                          rs1481594682 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>T [Show Flanks]
                            Chromosome:
                            10:102401223 (GRCh38)
                            10:104160980 (GRCh37)
                            Canonical SPDI:
                            NC_000010.11:102401222:G:T
                            Gene:
                            NFKB2 (Varview)
                            Functional Consequence:
                            coding_sequence_variant,synonymous_variant
                            HGVS:

                            14.

                            rs1479584792 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>G,T [Show Flanks]
                              Chromosome:
                              10:102399438 (GRCh38)
                              10:104159195 (GRCh37)
                              Canonical SPDI:
                              NC_000010.11:102399437:C:G,NC_000010.11:102399437:C:T
                              Gene:
                              NFKB2 (Varview)
                              Functional Consequence:
                              coding_sequence_variant,missense_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              G=0./0 (ALFA)
                              G=0.000008/2 (TOPMED)
                              HGVS:
                              NC_000010.11:g.102399438C>G, NC_000010.11:g.102399438C>T, NC_000010.10:g.104159195C>G, NC_000010.10:g.104159195C>T, NG_033874.2:g.10329C>G, NG_033874.2:g.10329C>T, NM_002502.6:c.1268C>G, NM_002502.6:c.1268C>T, NM_002502.5:c.1268C>G, NM_002502.5:c.1268C>T, NM_002502.4:c.1268C>G, NM_002502.4:c.1268C>T, NM_001077494.3:c.1268C>G, NM_001077494.3:c.1268C>T, NM_001077494.2:c.1268C>G, NM_001077494.2:c.1268C>T, NM_001261403.3:c.1268C>G, NM_001261403.3:c.1268C>T, NM_001261403.2:c.1268C>G, NM_001261403.2:c.1268C>T, NM_001261403.1:c.1268C>G, NM_001261403.1:c.1268C>T, NM_001322934.2:c.1268C>G, NM_001322934.2:c.1268C>T, NM_001322934.1:c.1268C>G, NM_001322934.1:c.1268C>T, NM_001288724.1:c.1268C>G, NM_001288724.1:c.1268C>T, NM_001322935.1:c.1142C>G, NM_001322935.1:c.1142C>T, NR_048560.1:n.1831C>G, NR_048560.1:n.1831C>T, NM_001077493.1:c.1268C>G, NM_001077493.1:c.1268C>T, NP_002493.3:p.Pro423Arg, NP_002493.3:p.Pro423Leu, NP_001070962.1:p.Pro423Arg, NP_001070962.1:p.Pro423Leu, NP_001248332.1:p.Pro423Arg, NP_001248332.1:p.Pro423Leu, NP_001309863.1:p.Pro423Arg, NP_001309863.1:p.Pro423Leu, NP_001275653.1:p.Pro423Arg, NP_001275653.1:p.Pro423Leu, NP_001309864.1:p.Pro381Arg, NP_001309864.1:p.Pro381Leu

                              15.

                              rs1478950154 [Homo sapiens]
                                Variant type:
                                DELINS
                                Alleles:
                                ->G [Show Flanks]
                                Chromosome:
                                10:102394486 (GRCh38)
                                10:104154244 (GRCh37)
                                Canonical SPDI:
                                NC_000010.11:102394486:GGGGGG:GGGGGGG
                                Gene:
                                NFKB2 (Varview)
                                Functional Consequence:
                                5_prime_UTR_variant,upstream_transcript_variant,genic_upstream_transcript_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                GGGGGGG=0./0 (ALFA)
                                G=0.000023/6 (TOPMED)
                                G=0.000029/4 (GnomAD)
                                G=0.000548/1 (Korea1K)
                                HGVS:

                                16.

                                rs1478185551 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A,T [Show Flanks]
                                  Chromosome:
                                  10:102401791 (GRCh38)
                                  10:104161548 (GRCh37)
                                  Canonical SPDI:
                                  NC_000010.11:102401790:G:A,NC_000010.11:102401790:G:T
                                  Gene:
                                  NFKB2 (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,missense_variant,synonymous_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  T=0./0 (ALFA)
                                  A=0.000004/1 (GnomAD_exomes)
                                  HGVS:
                                  NC_000010.11:g.102401791G>A, NC_000010.11:g.102401791G>T, NC_000010.10:g.104161548G>A, NC_000010.10:g.104161548G>T, NG_033874.2:g.12682G>A, NG_033874.2:g.12682G>T, NM_002502.6:c.2340G>A, NM_002502.6:c.2340G>T, NM_002502.5:c.2340G>A, NM_002502.5:c.2340G>T, NM_002502.4:c.2340G>A, NM_002502.4:c.2340G>T, NM_001077494.3:c.2340G>A, NM_001077494.3:c.2340G>T, NM_001077494.2:c.2340G>A, NM_001077494.2:c.2340G>T, NM_001261403.3:c.2340G>A, NM_001261403.3:c.2340G>T, NM_001261403.2:c.2340G>A, NM_001261403.2:c.2340G>T, NM_001261403.1:c.2340G>A, NM_001261403.1:c.2340G>T, NM_001322934.2:c.2340G>A, NM_001322934.2:c.2340G>T, NM_001322934.1:c.2340G>A, NM_001322934.1:c.2340G>T, NM_001288724.1:c.2340G>A, NM_001288724.1:c.2340G>T, NM_001322935.1:c.2214G>A, NM_001322935.1:c.2214G>T, NR_048560.1:n.2903G>A, NR_048560.1:n.2903G>T, NM_001077493.1:c.2340G>A, NM_001077493.1:c.2340G>T, NP_002493.3:p.Gln780His, NP_001070962.1:p.Gln780His, NP_001248332.1:p.Gln780His, NP_001309863.1:p.Gln780His, NP_001275653.1:p.Gln780His, NP_001309864.1:p.Gln738His

                                  17.

                                  rs1478008332 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A [Show Flanks]
                                    Chromosome:
                                    10:102400749 (GRCh38)
                                    10:104160506 (GRCh37)
                                    Canonical SPDI:
                                    NC_000010.11:102400748:G:A
                                    Gene:
                                    NFKB2 (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,synonymous_variant
                                    HGVS:

                                    18.

                                    rs1477621144 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>C [Show Flanks]
                                      Chromosome:
                                      10:102398392 (GRCh38)
                                      10:104158149 (GRCh37)
                                      Canonical SPDI:
                                      NC_000010.11:102398391:T:C
                                      Gene:
                                      NFKB2 (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,missense_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      C=0./0 (ALFA)
                                      C=0.000004/1 (TOPMED)
                                      HGVS:

                                      19.

                                      rs1477526947 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A [Show Flanks]
                                        Chromosome:
                                        10:102400994 (GRCh38)
                                        10:104160751 (GRCh37)
                                        Canonical SPDI:
                                        NC_000010.11:102400993:G:A
                                        Gene:
                                        NFKB2 (Varview)
                                        Functional Consequence:
                                        coding_sequence_variant,synonymous_variant
                                        Validated:
                                        by frequency
                                        MAF:
                                        A=0.000008/2 (GnomAD_exomes)
                                        HGVS:

                                        20.

                                        rs1477476002 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>G [Show Flanks]
                                          Chromosome:
                                          10:102401882 (GRCh38)
                                          10:104161639 (GRCh37)
                                          Canonical SPDI:
                                          NC_000010.11:102401881:A:G
                                          Gene:
                                          NFKB2 (Varview)
                                          Functional Consequence:
                                          coding_sequence_variant,missense_variant
                                          Clinical significance:
                                          uncertain-significance
                                          Validated:
                                          by frequency
                                          MAF:
                                          G=0.000008/2 (GnomAD_exomes)
                                          HGVS:

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