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Items: 1 to 20 of 21577

1.

rs1491548113 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    ->CA [Show Flanks]
    Chromosome:
    2:208318951 (GRCh38)
    2:209183676 (GRCh37)
    Canonical SPDI:
    NC_000002.12:208318951:A:ACA
    Gene:
    PIKFYVE (Varview)
    Functional Consequence:
    intron_variant,genic_downstream_transcript_variant
    Validated:
    by frequency,by alfa
    MAF:
    ACA=0./0 (ALFA)
    AC=0.00825/70 (GnomAD)
    HGVS:

    2.

    rs1491350835 [Homo sapiens]
      Variant type:
      INS
      Alleles:
      ->G [Show Flanks]
      Chromosome:
      2:208308710 (GRCh38)
      2:209173435 (GRCh37)
      Canonical SPDI:
      NC_000002.12:208308710::G
      Gene:
      PIKFYVE (Varview)
      Functional Consequence:
      intron_variant,genic_downstream_transcript_variant
      Validated:
      by frequency,by alfa
      MAF:
      G=0./0 (ALFA)
      G=0.000004/1 (TOPMED)
      HGVS:

      3.

      rs1491275652 has merged into rs57665157 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        AAAAAAAAAA>-,A,AAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA [Show Flanks]
        Chromosome:
        2:208318962 (GRCh38)
        2:209183686 (GRCh37)
        Canonical SPDI:
        NC_000002.12:208318950:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000002.12:208318950:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000002.12:208318950:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000002.12:208318950:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000002.12:208318950:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000002.12:208318950:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000002.12:208318950:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000002.12:208318950:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000002.12:208318950:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:208318950:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:208318950:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:208318950:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:208318950:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:208318950:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA
        Gene:
        PIKFYVE (Varview)
        Functional Consequence:
        intron_variant,genic_downstream_transcript_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        AAAAAAAAAAAA=0./0 (ALFA)
        A=0.2961/1483 (1000Genomes)
        HGVS:
        NC_000002.12:g.208318962_208318971del, NC_000002.12:g.208318963_208318971del, NC_000002.12:g.208318965_208318971del, NC_000002.12:g.208318967_208318971del, NC_000002.12:g.208318968_208318971del, NC_000002.12:g.208318969_208318971del, NC_000002.12:g.208318970_208318971del, NC_000002.12:g.208318971del, NC_000002.12:g.208318971dup, NC_000002.12:g.208318970_208318971dup, NC_000002.12:g.208318969_208318971dup, NC_000002.12:g.208318968_208318971dup, NC_000002.12:g.208318967_208318971dup, NC_000002.12:g.208318965_208318971dup, NC_000002.11:g.209183686_209183695del, NC_000002.11:g.209183687_209183695del, NC_000002.11:g.209183689_209183695del, NC_000002.11:g.209183691_209183695del, NC_000002.11:g.209183692_209183695del, NC_000002.11:g.209183693_209183695del, NC_000002.11:g.209183694_209183695del, NC_000002.11:g.209183695del, NC_000002.11:g.209183695dup, NC_000002.11:g.209183694_209183695dup, NC_000002.11:g.209183693_209183695dup, NC_000002.11:g.209183692_209183695dup, NC_000002.11:g.209183691_209183695dup, NC_000002.11:g.209183689_209183695dup, NG_021188.1:g.57696_57705del, NG_021188.1:g.57697_57705del, NG_021188.1:g.57699_57705del, NG_021188.1:g.57701_57705del, NG_021188.1:g.57702_57705del, NG_021188.1:g.57703_57705del, NG_021188.1:g.57704_57705del, NG_021188.1:g.57705del, NG_021188.1:g.57705dup, NG_021188.1:g.57704_57705dup, NG_021188.1:g.57703_57705dup, NG_021188.1:g.57702_57705dup, NG_021188.1:g.57701_57705dup, NG_021188.1:g.57699_57705dup

        4.

        rs1491243940 [Homo sapiens]
          Variant type:
          DEL
          Alleles:
          TG>- [Show Flanks]
          Chromosome:
          2:208267522 (GRCh38)
          2:209132246 (GRCh37)
          Canonical SPDI:
          NC_000002.12:208267521:TG:
          Gene:
          PIKFYVE (Varview)
          Functional Consequence:
          intron_variant,genic_upstream_transcript_variant
          Validated:
          by frequency,by alfa
          MAF:
          -=0.000337/4 (ALFA)
          -=0.000037/5 (GnomAD)
          HGVS:

          5.

          rs1491230494 [Homo sapiens]
            Variant type:
            INS
            Alleles:
            ->TTG,TTTTA,TTTTG,TTTTTA [Show Flanks]
            Chromosome:
            2:208267522 (GRCh38)
            2:209132247 (GRCh37)
            Canonical SPDI:
            NC_000002.12:208267522::TTG,NC_000002.12:208267522::TTTTA,NC_000002.12:208267522::TTTTG,NC_000002.12:208267522::TTTTTA
            Gene:
            PIKFYVE (Varview)
            Functional Consequence:
            intron_variant,genic_upstream_transcript_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            TTTTTA=0.000054/1 (ALFA)
            TTTTG=0.000015/2 (GnomAD)
            TTTTA=0.000496/8 (TOMMO)
            HGVS:

            6.

            rs1491174466 has merged into rs34169884 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              TTT>-,T,TT,TTTT,TTTTT,TTTTTT,TTTTTTTT [Show Flanks]
              Chromosome:
              2:208308722 (GRCh38)
              2:209173446 (GRCh37)
              Canonical SPDI:
              NC_000002.12:208308709:TTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000002.12:208308709:TTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000002.12:208308709:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000002.12:208308709:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000002.12:208308709:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000002.12:208308709:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000002.12:208308709:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT
              Gene:
              PIKFYVE (Varview)
              Functional Consequence:
              intron_variant,genic_downstream_transcript_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              TTTTTTTTTTTTTT=0./0 (ALFA)
              -=0.367/1838 (1000Genomes)
              HGVS:

              7.

              rs1491151507 [Homo sapiens]
                Variant type:
                DEL
                Alleles:
                CT>- [Show Flanks]
                Chromosome:
                2:208264740 (GRCh38)
                2:209129464 (GRCh37)
                Canonical SPDI:
                NC_000002.12:208264739:CT:
                Gene:
                PIKFYVE (Varview)
                Functional Consequence:
                upstream_transcript_variant,2KB_upstream_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                -=0./0 (ALFA)
                -=0.000372/40 (GnomAD)
                HGVS:

                8.

                rs1491131092 [Homo sapiens]
                  Variant type:
                  DEL
                  Alleles:
                  GT>- [Show Flanks]
                  Chromosome:
                  2:208267502 (GRCh38)
                  2:209132226 (GRCh37)
                  Canonical SPDI:
                  NC_000002.12:208267501:GT:
                  Gene:
                  PIKFYVE (Varview)
                  Functional Consequence:
                  intron_variant,genic_upstream_transcript_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  -=0./0 (ALFA)
                  -=0.00003/1 (GnomAD)
                  HGVS:

                  9.

                  rs1491124534 has merged into rs33914706 [Homo sapiens]
                    Variant type:
                    DELINS
                    Alleles:
                    TT>-,T,TTT,TTTT [Show Flanks]
                    Chromosome:
                    2:208322708 (GRCh38)
                    2:209187432 (GRCh37)
                    Canonical SPDI:
                    NC_000002.12:208322701:TTTTTTTT:TTTTTT,NC_000002.12:208322701:TTTTTTTT:TTTTTTT,NC_000002.12:208322701:TTTTTTTT:TTTTTTTTT,NC_000002.12:208322701:TTTTTTTT:TTTTTTTTTT
                    Gene:
                    PIKFYVE (Varview)
                    Functional Consequence:
                    intron_variant,genic_downstream_transcript_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    TTTTTTTTT=0./0 (ALFA)
                    T=0.000011/3 (TOPMED)
                    -=0.000223/1 (Estonian)
                    -=0.00046/8 (TOMMO)
                    -=0.006667/4 (NorthernSweden)
                    -=0.057542/103 (Korea1K)
                    -=0.147059/5 (GENOME_DK)
                    HGVS:

                    10.

                    rs1491059237 has merged into rs56245288 [Homo sapiens]
                      Variant type:
                      DELINS
                      Alleles:
                      CACA>-,CA,CACACA,CACACACA,CACACACACA [Show Flanks]
                      Chromosome:
                      2:208303298 (GRCh38)
                      2:209168022 (GRCh37)
                      Canonical SPDI:
                      NC_000002.12:208303285:CACACACACACACACA:CACACACACACA,NC_000002.12:208303285:CACACACACACACACA:CACACACACACACA,NC_000002.12:208303285:CACACACACACACACA:CACACACACACACACACA,NC_000002.12:208303285:CACACACACACACACA:CACACACACACACACACACA,NC_000002.12:208303285:CACACACACACACACA:CACACACACACACACACACACA
                      Gene:
                      PIKFYVE (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      CACACACACACACA=0./0 (ALFA)
                      -=0.025/1 (GENOME_DK)
                      -=0.081/17 (Vietnamese)
                      -=0.4746/2377 (1000Genomes)
                      HGVS:

                      11.

                      rs1491017919 [Homo sapiens]
                        Variant type:
                        DELINS
                        Alleles:
                        ->AT [Show Flanks]
                        Chromosome:
                        2:208348636 (GRCh38)
                        2:209213361 (GRCh37)
                        Canonical SPDI:
                        NC_000002.12:208348636:TAT:TATAT
                        Gene:
                        PIKFYVE (Varview)
                        Functional Consequence:
                        intron_variant,genic_downstream_transcript_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        TATAT=0./0 (ALFA)
                        TA=0.000029/4 (GnomAD)
                        TA=0.000468/3 (1000Genomes)
                        HGVS:

                        12.

                        rs1490976837 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>A,C [Show Flanks]
                          Chromosome:
                          2:208339971 (GRCh38)
                          2:209204695 (GRCh37)
                          Canonical SPDI:
                          NC_000002.12:208339970:T:A,NC_000002.12:208339970:T:C
                          Gene:
                          PIKFYVE (Varview)
                          Functional Consequence:
                          intron_variant,genic_downstream_transcript_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          A=0.000043/1 (ALFA)
                          A=0.000004/1 (GnomAD_exomes)
                          A=0.000004/1 (TOPMED)
                          A=0.000007/1 (GnomAD)
                          C=0.000071/1 (TOMMO)
                          HGVS:

                          13.

                          rs1490974838 [Homo sapiens]
                            Variant type:
                            DELINS
                            Alleles:
                            T>- [Show Flanks]
                            Chromosome:
                            2:208355385 (GRCh38)
                            2:209220109 (GRCh37)
                            Canonical SPDI:
                            NC_000002.12:208355384:TTT:TT
                            Gene:
                            PIKFYVE (Varview)
                            Functional Consequence:
                            genic_downstream_transcript_variant,3_prime_UTR_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            TT=0./0 (ALFA)
                            -=0.000004/1 (TOPMED)
                            HGVS:
                            NC_000002.12:g.208355387del, NC_000002.11:g.209220111del, NG_021188.1:g.94121del, NM_015040.4:c.*82del, NM_015040.3:c.*82del, XM_011510778.4:c.*82del, XM_011510778.3:c.*82del, XM_011510778.2:c.*82del, XM_011510778.1:c.*82del, XM_011510781.4:c.*82del, XM_011510781.3:c.*82del, XM_011510781.2:c.*82del, XM_011510781.1:c.*82del, XM_011510782.4:c.*82del, XM_011510782.3:c.*82del, XM_011510782.2:c.*82del, XM_011510782.1:c.*82del, XM_011510783.4:c.*82del, XM_011510783.3:c.*82del, XM_011510783.2:c.*82del, XM_011510783.1:c.*82del, XM_011510785.4:c.*82del, XM_011510785.3:c.*82del, XM_011510785.2:c.*82del, XM_011510785.1:c.*82del, XM_011510786.4:c.*82del, XM_011510786.3:c.*82del, XM_011510786.2:c.*82del, XM_011510786.1:c.*82del, XM_011510779.3:c.*82del, XM_011510779.2:c.*82del, XM_011510779.1:c.*82del, XM_011510780.3:c.*82del, XM_011510780.2:c.*82del, XM_011510780.1:c.*82del, XM_011510784.3:c.*82del, XM_011510784.2:c.*82del, XM_011510784.1:c.*82del, XM_011510789.3:c.*82del, XM_011510789.2:c.*82del, XM_011510789.1:c.*82del, XM_017003568.2:c.*82del, XM_017003568.1:c.*82del, XM_017003569.2:c.*82del, XM_017003569.1:c.*82del, XM_011510787.2:c.*82del, XM_011510787.1:c.*82del, XM_011510788.2:c.*82del, XM_011510788.1:c.*82del, XM_017003570.2:c.*82del, XM_017003570.1:c.*82del, XM_017003571.2:c.*82del, XM_017003571.1:c.*82del, XM_017003574.2:c.*82del, XM_017003574.1:c.*82del, XM_047443667.1:c.*82del, XM_047443672.1:c.*82del, XM_047443670.1:c.*82del, XM_047443671.1:c.*82del, XM_047443673.1:c.*82del, XM_047443674.1:c.*82del, XM_047443676.1:c.*82del, XM_047443677.1:c.*82del, XM_047443679.1:c.*82del, XM_047443680.1:c.*82del, XM_047443681.1:c.*82del, XM_047443682.1:c.*82del, XM_047443686.1:c.*82del, XM_047443687.1:c.*82del, XM_047443689.1:c.*82del, XM_047443690.1:c.*82del, XM_047443695.1:c.*82del, XM_047443696.1:c.*82del, XM_047443698.1:c.*82del, NM_001002881.1:c.*82del

                            14.

                            rs1490967290 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>C [Show Flanks]
                              Chromosome:
                              2:208325556 (GRCh38)
                              2:209190280 (GRCh37)
                              Canonical SPDI:
                              NC_000002.12:208325555:T:C
                              Gene:
                              PIKFYVE (Varview)
                              Functional Consequence:
                              non_coding_transcript_variant,genic_downstream_transcript_variant,synonymous_variant,coding_sequence_variant
                              Validated:
                              by frequency
                              MAF:
                              C=0.000004/1 (GnomAD_exomes)
                              HGVS:
                              NC_000002.12:g.208325556T>C, NC_000002.11:g.209190280T>C, NG_021188.1:g.64290T>C, NM_015040.4:c.2745T>C, NM_015040.3:c.2745T>C, XM_011510778.4:c.2781T>C, XM_011510778.3:c.2781T>C, XM_011510778.2:c.2781T>C, XM_011510778.1:c.2781T>C, XM_011510781.4:c.2763T>C, XM_011510781.3:c.2763T>C, XM_011510781.2:c.2763T>C, XM_011510781.1:c.2763T>C, XM_011510782.4:c.2781T>C, XM_011510782.3:c.2781T>C, XM_011510782.2:c.2781T>C, XM_011510782.1:c.2781T>C, XM_011510783.4:c.2613T>C, XM_011510783.3:c.2613T>C, XM_011510783.2:c.2613T>C, XM_011510783.1:c.2613T>C, XM_011510785.4:c.2595T>C, XM_011510785.3:c.2595T>C, XM_011510785.2:c.2595T>C, XM_011510785.1:c.2595T>C, XM_011510786.4:c.2490T>C, XM_011510786.3:c.2490T>C, XM_011510786.2:c.2490T>C, XM_011510786.1:c.2490T>C, XM_011510792.4:c.2781T>C, XM_011510792.3:c.2781T>C, XM_011510792.2:c.2781T>C, XM_011510792.1:c.2781T>C, XM_011510779.3:c.2781T>C, XM_011510779.2:c.2781T>C, XM_011510779.1:c.2781T>C, XM_011510780.3:c.2778T>C, XM_011510780.2:c.2778T>C, XM_011510780.1:c.2778T>C, XM_011510784.3:c.2610T>C, XM_011510784.2:c.2610T>C, XM_011510784.1:c.2610T>C, XM_011510789.3:c.2304T>C, XM_011510789.2:c.2304T>C, XM_011510789.1:c.2304T>C, XM_017003568.2:c.2727T>C, XM_017003568.1:c.2727T>C, XM_017003569.2:c.2559T>C, XM_017003569.1:c.2559T>C, XM_011510787.2:c.2487T>C, XM_011510787.1:c.2487T>C, XM_011510788.2:c.2454T>C, XM_011510788.1:c.2454T>C, XM_017003570.2:c.2286T>C, XM_017003570.1:c.2286T>C, XM_017003571.2:c.2136T>C, XM_017003571.1:c.2136T>C, XM_017003574.2:c.1788T>C, XM_017003574.1:c.1788T>C, XM_047443667.1:c.2745T>C, XM_047443672.1:c.2577T>C, XM_047443670.1:c.2745T>C, XM_047443671.1:c.2577T>C, XM_047443673.1:c.2727T>C, XM_047443674.1:c.2454T>C, XM_047443676.1:c.2436T>C, XM_047443677.1:c.2577T>C, XM_047443679.1:c.2559T>C, XM_047443680.1:c.2322T>C, XM_047443681.1:c.2454T>C, XM_047443682.1:c.2286T>C, XM_047443686.1:c.2436T>C, XM_047443687.1:c.2268T>C, XM_047443689.1:c.2304T>C, XM_047443690.1:c.2286T>C, XM_047443695.1:c.2118T>C, XM_047443696.1:c.2268T>C, XM_047443698.1:c.1788T>C, XR_007070607.1:n.2951T>C, NM_001002881.1:c.1788T>C

                              15.

                              rs1490952901 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>G [Show Flanks]
                                Chromosome:
                                2:208299916 (GRCh38)
                                2:209164640 (GRCh37)
                                Canonical SPDI:
                                NC_000002.12:208299915:C:G
                                Gene:
                                PIKFYVE (Varview)
                                Functional Consequence:
                                intron_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                G=0./0 (ALFA)
                                G=0.000011/3 (TOPMED)
                                HGVS:

                                16.

                                rs1490941713 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>C [Show Flanks]
                                  Chromosome:
                                  2:208297172 (GRCh38)
                                  2:209161896 (GRCh37)
                                  Canonical SPDI:
                                  NC_000002.12:208297171:T:C
                                  Gene:
                                  PIKFYVE (Varview)
                                  Functional Consequence:
                                  intron_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  C=0.000071/1 (ALFA)
                                  C=0.000004/1 (TOPMED)
                                  C=0.000007/1 (GnomAD)
                                  HGVS:

                                  17.

                                  rs1490892618 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>G [Show Flanks]
                                    Chromosome:
                                    2:208285791 (GRCh38)
                                    2:209150515 (GRCh37)
                                    Canonical SPDI:
                                    NC_000002.12:208285790:A:G
                                    Gene:
                                    PIKFYVE (Varview)
                                    Functional Consequence:
                                    intron_variant,coding_sequence_variant,5_prime_UTR_variant,missense_variant,non_coding_transcript_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    G=0./0 (ALFA)
                                    G=0.000004/1 (TOPMED)
                                    HGVS:
                                    NC_000002.12:g.208285791A>G, NC_000002.11:g.209150515A>G, NG_021188.1:g.24525A>G, NM_015040.4:c.679A>G, NM_015040.3:c.679A>G, NM_152671.4:c.388A>G, NM_152671.3:c.388A>G, NM_001178000.2:c.679A>G, NM_001178000.1:c.679A>G, XM_011510778.4:c.715A>G, XM_011510778.3:c.715A>G, XM_011510778.2:c.715A>G, XM_011510778.1:c.715A>G, XM_011510781.4:c.715A>G, XM_011510781.3:c.715A>G, XM_011510781.2:c.715A>G, XM_011510781.1:c.715A>G, XM_011510782.4:c.715A>G, XM_011510782.3:c.715A>G, XM_011510782.2:c.715A>G, XM_011510782.1:c.715A>G, XM_011510783.4:c.715A>G, XM_011510783.3:c.715A>G, XM_011510783.2:c.715A>G, XM_011510783.1:c.715A>G, XM_011510785.4:c.715A>G, XM_011510785.3:c.715A>G, XM_011510785.2:c.715A>G, XM_011510785.1:c.715A>G, XM_011510786.4:c.424A>G, XM_011510786.3:c.424A>G, XM_011510786.2:c.424A>G, XM_011510786.1:c.424A>G, XM_011510792.4:c.715A>G, XM_011510792.3:c.715A>G, XM_011510792.2:c.715A>G, XM_011510792.1:c.715A>G, XM_011510779.3:c.715A>G, XM_011510779.2:c.715A>G, XM_011510779.1:c.715A>G, XM_011510780.3:c.712A>G, XM_011510780.2:c.712A>G, XM_011510780.1:c.712A>G, XM_011510784.3:c.712A>G, XM_011510784.2:c.712A>G, XM_011510784.1:c.712A>G, XM_011510789.3:c.238A>G, XM_011510789.2:c.238A>G, XM_011510789.1:c.238A>G, XM_017003568.2:c.679A>G, XM_017003568.1:c.679A>G, XM_017003569.2:c.679A>G, XM_017003569.1:c.679A>G, XM_011510787.2:c.421A>G, XM_011510787.1:c.421A>G, XM_011510788.2:c.388A>G, XM_011510788.1:c.388A>G, XM_017003570.2:c.388A>G, XM_017003570.1:c.388A>G, XM_017003571.2:c.238A>G, XM_017003571.1:c.238A>G, XM_047443667.1:c.679A>G, XM_047443672.1:c.679A>G, XM_047443670.1:c.679A>G, XM_047443671.1:c.679A>G, XM_047443673.1:c.679A>G, XM_047443674.1:c.388A>G, XM_047443676.1:c.388A>G, XM_047443677.1:c.679A>G, XM_047443679.1:c.679A>G, XM_047443680.1:c.424A>G, XM_047443681.1:c.388A>G, XM_047443682.1:c.238A>G, XM_047443686.1:c.388A>G, XM_047443687.1:c.388A>G, XM_047443689.1:c.238A>G, XM_047443690.1:c.388A>G, XM_047443695.1:c.238A>G, XM_047443696.1:c.388A>G, XM_047443698.1:c.-279A>G, XR_007070607.1:n.885A>G, NM_001002881.1:c.-279A>G, NP_055855.2:p.Asn227Asp, NP_689884.1:p.Asn130Asp, NP_001171471.1:p.Asn227Asp, XP_011509080.1:p.Asn239Asp, XP_011509083.1:p.Asn239Asp, XP_011509084.1:p.Asn239Asp, XP_011509085.1:p.Asn239Asp, XP_011509087.1:p.Asn239Asp, XP_011509088.1:p.Asn142Asp, XP_011509094.1:p.Asn239Asp, XP_011509081.1:p.Asn239Asp, XP_011509082.1:p.Asn238Asp, XP_011509086.1:p.Asn238Asp, XP_011509091.1:p.Asn80Asp, XP_016859057.1:p.Asn227Asp, XP_016859058.1:p.Asn227Asp, XP_011509089.1:p.Asn141Asp, XP_011509090.1:p.Asn130Asp, XP_016859059.1:p.Asn130Asp, XP_016859060.1:p.Asn80Asp, XP_047299623.1:p.Asn227Asp, XP_047299628.1:p.Asn227Asp, XP_047299626.1:p.Asn227Asp, XP_047299627.1:p.Asn227Asp, XP_047299629.1:p.Asn227Asp, XP_047299630.1:p.Asn130Asp, XP_047299632.1:p.Asn130Asp, XP_047299633.1:p.Asn227Asp, XP_047299635.1:p.Asn227Asp, XP_047299636.1:p.Asn142Asp, XP_047299637.1:p.Asn130Asp, XP_047299638.1:p.Asn80Asp, XP_047299642.1:p.Asn130Asp, XP_047299643.1:p.Asn130Asp, XP_047299645.1:p.Asn80Asp, XP_047299646.1:p.Asn130Asp, XP_047299651.1:p.Asn80Asp, XP_047299652.1:p.Asn130Asp

                                    18.

                                    rs1490889324 [Homo sapiens]
                                      Variant type:
                                      DEL
                                      Alleles:
                                      CT>- [Show Flanks]
                                      Chromosome:
                                      2:208337935 (GRCh38)
                                      2:209202659 (GRCh37)
                                      Canonical SPDI:
                                      NC_000002.12:208337934:CT:
                                      Gene:
                                      PIKFYVE (Varview)
                                      Functional Consequence:
                                      intron_variant,genic_downstream_transcript_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      -=0./0 (ALFA)
                                      -=0.000004/1 (TOPMED)
                                      -=0.000007/1 (GnomAD)
                                      HGVS:

                                      19.

                                      rs1490888602 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>T [Show Flanks]
                                        Chromosome:
                                        2:208323508 (GRCh38)
                                        2:209188232 (GRCh37)
                                        Canonical SPDI:
                                        NC_000002.12:208323507:C:T
                                        Gene:
                                        PIKFYVE (Varview)
                                        Functional Consequence:
                                        intron_variant,genic_downstream_transcript_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        T=0./0 (ALFA)
                                        HGVS:

                                        20.

                                        rs1490841424 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>C [Show Flanks]
                                          Chromosome:
                                          2:208336692 (GRCh38)
                                          2:209201416 (GRCh37)
                                          Canonical SPDI:
                                          NC_000002.12:208336691:T:C
                                          Gene:
                                          PIKFYVE (Varview)
                                          Functional Consequence:
                                          intron_variant,genic_downstream_transcript_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          C=0./0 (ALFA)
                                          C=0.000015/4 (TOPMED)
                                          C=0.000036/5 (GnomAD)
                                          HGVS:

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