Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Search results

Items: 1 to 20 of 4389

1.

rs527236151 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>T
    Chromosome:
    17:21702913
    Gene:
    KCNJ18 (GeneView)
    Functional Consequence:
    coding_sequence_variant,missense_variant
    Clinical significance:
    pathogenic
    Validated:
    by cluster
    HGVS:
    NC_000017.11:g.21702913C>T, NW_003315950.2:g.355278C>T, NG_033093.1:g.15391C>T, NM_001194958.2:c.127C>T, XM_005276919.3:c.433C>T, XM_005276919.1:c.433C>T, NP_001181887.2:p.Arg43Cys, XP_005276976.1:p.Arg145Cys
    2.

    rs527236152 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>T
      Chromosome:
      17:21703205
      Gene:
      KCNJ18 (GeneView)
      Functional Consequence:
      coding_sequence_variant,missense_variant
      Clinical significance:
      pathogenic
      Validated:
      by cluster
      HGVS:
      NC_000017.11:g.21703205C>T, NW_003315950.2:g.355570C>T, NG_033093.1:g.15683C>T, NM_001194958.2:c.419C>T, XM_005276919.3:c.725C>T, XM_005276919.1:c.725C>T, NP_001181887.2:p.Thr140Met, XP_005276976.1:p.Thr242Met
      3.

      rs527236153 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        CC>C
        Chromosome:
        17:21703214
        Gene:
        KCNJ18 (GeneView)
        Functional Consequence:
        coding_sequence_variant,frameshift
        Clinical significance:
        pathogenic,risk-factor
        Validated:
        by cluster
        HGVS:
        NC_000017.11:g.21703215delC, NW_003315950.2:g.355580delC, NG_033093.1:g.15693delC, NM_001194958.2:c.429delC, XM_005276919.3:c.735delC, XM_005276919.1:c.735delC, NP_001181887.2:p.Ile144fs, XP_005276976.1:p.Ile246fs
        4.

        rs527236154 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A
          Chromosome:
          17:21703288
          Gene:
          KCNJ18 (GeneView)
          Functional Consequence:
          coding_sequence_variant,missense_variant
          Clinical significance:
          pathogenic
          Validated:
          by cluster
          HGVS:
          NC_000017.11:g.21703288G>A, NW_003315950.2:g.355653G>A, NG_033093.1:g.15766G>A, NM_001194958.2:c.502G>A, XM_005276919.3:c.808G>A, XM_005276919.1:c.808G>A, NP_001181887.2:p.Val168Met, XP_005276976.1:p.Val270Met
          6.

          rs527236156 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>T
            Chromosome:
            17:21703981
            Gene:
            KCNJ18 (GeneView)
            Functional Consequence:
            coding_sequence_variant,stop_gained
            Clinical significance:
            pathogenic
            Validated:
            by frequency,by cluster
            Global MAF:
            T=0.0101/1272 (TOPMED)
            HGVS:
            NC_000017.11:g.21703981C>T, NW_003315950.2:g.356346C>T, NG_033093.1:g.16459C>T, NM_001194958.2:c.1195C>T, XM_005276919.3:c.1501C>T, XM_005276919.1:c.1501C>T, NP_001181887.2:p.Arg399Ter, XP_005276976.1:p.Arg501Ter
            7.

            rs527236157 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>T
              Chromosome:
              17:21704005
              Gene:
              KCNJ18 (GeneView)
              Functional Consequence:
              coding_sequence_variant,stop_gained
              Clinical significance:
              pathogenic
              Validated:
              by frequency,by cluster
              Global MAF:
              T=0.0076/952 (TOPMED)
              HGVS:
              NC_000017.11:g.21704005C>T, NW_003315950.2:g.356370C>T, NG_033093.1:g.16483C>T, NM_001194958.2:c.1219C>T, XM_005276919.3:c.1525C>T, XM_005276919.1:c.1525C>T, NP_001181887.2:p.Gln407Ter, XP_005276976.1:p.Gln509Ter
              8.

              rs527236158 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>T
                Chromosome:
                17:21703847
                Gene:
                KCNJ18 (GeneView)
                Functional Consequence:
                coding_sequence_variant,missense_variant
                Clinical significance:
                pathogenic,risk-factor
                Validated:
                by cluster
                HGVS:
                NC_000017.11:g.21703847C>T, NW_003315950.2:g.356212C>T, NG_033093.1:g.16325C>T, NM_001194958.2:c.1061C>T, XM_005276919.3:c.1367C>T, XM_005276919.1:c.1367C>T, NP_001181887.2:p.Thr354Met, XP_005276976.1:p.Thr456Met
                9.

                rs527236159 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>G
                  Chromosome:
                  17:21703883
                  Gene:
                  KCNJ18 (GeneView)
                  Functional Consequence:
                  coding_sequence_variant,missense_variant
                  Clinical significance:
                  pathogenic,risk-factor
                  Validated:
                  by cluster
                  HGVS:
                  NC_000017.11:g.21703883A>G, NW_003315950.2:g.356248A>G, NG_033093.1:g.16361A>G, NM_001194958.2:c.1097A>G, XM_005276919.3:c.1403A>G, XM_005276919.1:c.1403A>G, NP_001181887.2:p.Lys366Arg, XP_005276976.1:p.Lys468Arg
                  10.

                  rs672601244 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A
                    Chromosome:
                    17:21703400
                    Gene:
                    KCNJ18 (GeneView)
                    Functional Consequence:
                    missense_variant,coding_sequence_variant
                    Clinical significance:
                    risk-factor
                    Validated:
                    by cluster
                    HGVS:
                    NC_000017.11:g.21703400G>A, NW_003315950.2:g.355765G>A, NG_033093.1:g.15878G>A, NM_001194958.2:c.614G>A, XM_005276919.3:c.920G>A, XM_005276919.1:c.920G>A, NP_001181887.2:p.Arg205His, XP_005276976.1:p.Arg307His
                    11.

                    rs1469374904 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>T
                      Chromosome:
                      17:21703441
                      Gene:
                      KCNJ18 (GeneView)
                      Functional Consequence:
                      missense_variant,coding_sequence_variant
                      Clinical significance:
                      uncertain-significance
                      HGVS:
                      NC_000017.11:g.21703441C>T, NW_003315950.2:g.355806C>T, NG_033093.1:g.15919C>T, NM_001194958.2:c.655C>T, XM_005276919.3:c.961C>T, XM_005276919.1:c.961C>T, NP_001181887.2:p.Arg219Cys, XP_005276976.1:p.Arg321Cys
                      12.

                      rs1657710 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>T
                        Chromosome:
                        17:21692915
                        Gene:
                        KCNJ18 (GeneView)
                        Functional Consequence:
                        intron_variant,genic_upstream_transcript_variant
                        Validated:
                        by cluster
                        HGVS:
                        NC_000017.11:g.21692915C>T, NW_003315950.2:g.345280C>T, NG_033093.1:g.5393C>T
                        13.

                        rs1657715 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>T
                          Chromosome:
                          17:21693833
                          Gene:
                          KCNJ18 (GeneView)
                          Functional Consequence:
                          intron_variant,genic_upstream_transcript_variant
                          HGVS:
                          NC_000017.11:g.21693833C>T, NW_003315950.2:g.346198C>T, NG_033093.1:g.6311C>T
                          14.

                          rs2118243 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>T
                            Chromosome:
                            17:21705855
                            Gene:
                            KCNJ18 (GeneView)
                            Functional Consequence:
                            downstream_transcript_variant
                            Validated:
                            by cluster
                            HGVS:
                            NC_000017.11:g.21705855C>T, NW_003315950.2:g.358220C>T, NG_033093.1:g.18333C>T
                            15.

                            rs3752036 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>C
                              Chromosome:
                              17:21703028
                              Gene:
                              KCNJ18 (GeneView)
                              Functional Consequence:
                              missense_variant,coding_sequence_variant
                              HGVS:
                              NC_000017.11:g.21703028G>C, NW_003315950.2:g.355393G>C, NG_033093.1:g.15506G>C, NM_001194958.2:c.242G>C, XM_005276919.3:c.548G>C, XM_005276919.1:c.548G>C, NP_001181887.2:p.Arg81Pro, XP_005276976.1:p.Arg183Pro
                              16.

                              rs4021092 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>T
                                Chromosome:
                                17:21698760
                                Gene:
                                KCNJ18 (GeneView)
                                Functional Consequence:
                                upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
                                HGVS:
                                NC_000017.11:g.21698760G>T, NW_003315950.2:g.351125G>T, NG_033093.1:g.11238G>T
                                18.

                                rs35195987 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A
                                  Chromosome:
                                  17:21702499
                                  Gene:
                                  KCNJ18 (GeneView)
                                  Functional Consequence:
                                  intron_variant
                                  Validated:
                                  by cluster
                                  HGVS:
                                  NC_000017.11:g.21702499G>A, NW_003315950.2:g.354864G>A, NG_033093.1:g.14977G>A
                                  19.

                                  rs35280892 [Homo sapiens]
                                    Variant type:
                                    MNV
                                    Alleles:
                                    TT>GA
                                    Chromosome:
                                    17:21690715
                                    Gene:
                                    KCNJ18 (GeneView)
                                    Functional Consequence:
                                    upstream_transcript_variant
                                    HGVS:
                                    NC_000017.11:g.21690715_21690716delTTinsGA, NW_003315950.2:g.343080_343081delTTinsGA, NG_033093.1:g.3193_3194delTTinsGA
                                    20.

                                    rs35289757 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A
                                      Chromosome:
                                      17:21691714
                                      Gene:
                                      KCNJ18 (GeneView)
                                      Functional Consequence:
                                      upstream_transcript_variant
                                      Validated:
                                      by cluster
                                      HGVS:
                                      NC_000017.11:g.21691714G>A, NW_003315950.2:g.344079G>A, NG_033093.1:g.4192G>A

                                      Display Settings:

                                      Format
                                      Items per page
                                      Sort by

                                      Send to:

                                      Choose Destination

                                      Supplemental Content

                                      Find related data

                                      Search details

                                      See more...

                                      Recent activity

                                      Your browsing activity is empty.

                                      Activity recording is turned off.

                                      Turn recording back on

                                      See more...
                                      Support Center