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Items: 1 to 20 of 29628

1.

rs58905758 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>G,T [Show Flanks]
    Chromosome:
    20:59866557 (GRCh38)
    20:58441612 (GRCh37)
    Canonical SPDI:
    NC_000020.11:59866556:C:G,NC_000020.11:59866556:C:T
    Gene:
    SYCP2 (Varview)
    Functional Consequence:
    coding_sequence_variant,synonymous_variant
    Clinical significance:
    benign
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    T=0.001557/87 (ALFA)
    T=0.001667/1 (NorthernSweden)
    T=0.001873/1 (MGP)
    T=0.003857/937 (GnomAD_exomes)
    T=0.00463/1 (Vietnamese)
    T=0.004773/573 (ExAC)
    T=0.015459/201 (GoESP)
    T=0.015742/2201 (GnomAD)
    T=0.01648/4362 (TOPMED)
    T=0.019363/97 (1000Genomes)
    C=0.5/3 (SGDP_PRJ)
    HGVS:
    NC_000020.11:g.59866557C>G, NC_000020.11:g.59866557C>T, NC_000020.10:g.58441612C>G, NC_000020.10:g.58441612C>T, NG_046980.1:g.72125G>C, NG_046980.1:g.72125G>A, NM_014258.4:c.4158G>C, NM_014258.4:c.4158G>A, NM_014258.3:c.4158G>C, NM_014258.3:c.4158G>A, NM_014258.2:c.4158G>C, NM_014258.2:c.4158G>A, XM_011528487.4:c.4179G>C, XM_011528487.4:c.4179G>A, XM_011528487.3:c.4179G>C, XM_011528487.3:c.4179G>A, XM_011528487.2:c.4179G>C, XM_011528487.2:c.4179G>A, XM_011528487.1:c.4179G>C, XM_011528487.1:c.4179G>A, XM_011528490.4:c.4155G>C, XM_011528490.4:c.4155G>A, XM_011528490.3:c.4155G>C, XM_011528490.3:c.4155G>A, XM_011528490.2:c.4155G>C, XM_011528490.2:c.4155G>A, XM_011528490.1:c.4155G>C, XM_011528490.1:c.4155G>A, XM_011528488.3:c.4179G>C, XM_011528488.3:c.4179G>A, XM_011528488.2:c.4179G>C, XM_011528488.2:c.4179G>A, XM_011528488.1:c.4179G>C, XM_011528488.1:c.4179G>A, XM_011528489.3:c.4158G>C, XM_011528489.3:c.4158G>A, XM_011528489.2:c.4158G>C, XM_011528489.2:c.4158G>A, XM_011528489.1:c.4158G>C, XM_011528489.1:c.4158G>A, XM_017027586.2:c.4179G>C, XM_017027586.2:c.4179G>A, XM_017027586.1:c.4179G>C, XM_017027586.1:c.4179G>A, XM_017027587.2:c.4176G>C, XM_017027587.2:c.4176G>A, XM_017027587.1:c.4176G>C, XM_017027587.1:c.4176G>A, XM_047439825.1:c.4158G>C, XM_047439825.1:c.4158G>A, XM_047439826.1:c.4023G>C, XM_047439826.1:c.4023G>A, XM_047439827.1:c.4008G>C, XM_047439827.1:c.4008G>A, XM_047439828.1:c.3852G>C, XM_047439828.1:c.3852G>A, XM_047439829.1:c.3663G>C, XM_047439829.1:c.3663G>A

    2.

    rs61730336 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      A>G [Show Flanks]
      Chromosome:
      20:59892338 (GRCh38)
      20:58467393 (GRCh37)
      Canonical SPDI:
      NC_000020.11:59892337:A:G
      Gene:
      SYCP2 (Varview)
      Functional Consequence:
      coding_sequence_variant,synonymous_variant
      Clinical significance:
      benign
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      G=0.002514/140 (ALFA)
      G=0.003745/2 (MGP)
      G=0.007232/94 (GoESP)
      G=0.008694/1216 (GnomAD)
      G=0.009037/2246 (GnomAD_exomes)
      G=0.009155/1101 (ExAC)
      G=0.009259/2 (Qatari)
      G=0.010303/2727 (TOPMED)
      G=0.032636/163 (1000Genomes)
      G=0.035957/603 (TOMMO)
      G=0.040273/118 (KOREAN)
      G=0.042576/78 (Korea1K)
      G=0.071429/44 (Vietnamese)
      A=0.5/11 (SGDP_PRJ)
      HGVS:

      3.

      rs61730337 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        A>G [Show Flanks]
        Chromosome:
        20:59921383 (GRCh38)
        20:58496438 (GRCh37)
        Canonical SPDI:
        NC_000020.11:59921382:A:G
        Gene:
        SYCP2 (Varview)
        Functional Consequence:
        coding_sequence_variant,upstream_transcript_variant,genic_upstream_transcript_variant,missense_variant
        Clinical significance:
        benign
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        G=0.002131/304 (ALFA)
        G=0.001873/1 (MGP)
        G=0.004531/1112 (GnomAD_exomes)
        G=0.006538/676 (ExAC)
        G=0.019257/250 (GoESP)
        G=0.019551/2732 (GnomAD)
        G=0.020035/5303 (TOPMED)
        G=0.021549/108 (1000Genomes)
        G=0.030232/2379 (PAGE_STUDY)
        A=0.5/2 (SGDP_PRJ)
        HGVS:
        NC_000020.11:g.59921383A>G, NC_000020.10:g.58496438A>G, NG_046980.1:g.17299T>C, NM_014258.4:c.95T>C, NM_014258.3:c.95T>C, NM_014258.2:c.95T>C, XM_011528487.4:c.116T>C, XM_011528487.3:c.116T>C, XM_011528487.2:c.116T>C, XM_011528487.1:c.116T>C, XM_011528490.4:c.92T>C, XM_011528490.3:c.92T>C, XM_011528490.2:c.92T>C, XM_011528490.1:c.92T>C, XM_011528488.3:c.116T>C, XM_011528488.2:c.116T>C, XM_011528488.1:c.116T>C, XM_011528489.3:c.95T>C, XM_011528489.2:c.95T>C, XM_011528489.1:c.95T>C, XM_017027586.2:c.116T>C, XM_017027586.1:c.116T>C, XM_017027587.2:c.113T>C, XM_017027587.1:c.113T>C, XM_047439825.1:c.95T>C, XM_047439826.1:c.116T>C, XM_047439827.1:c.116T>C, XM_047439828.1:c.116T>C, NP_055073.2:p.Ile32Thr, XP_011526789.1:p.Ile39Thr, XP_011526792.1:p.Ile31Thr, XP_011526790.1:p.Ile39Thr, XP_011526791.1:p.Ile32Thr, XP_016883075.1:p.Ile39Thr, XP_016883076.1:p.Ile38Thr, XP_047295781.1:p.Ile32Thr, XP_047295782.1:p.Ile39Thr, XP_047295783.1:p.Ile39Thr, XP_047295784.1:p.Ile39Thr

        4.

        rs61741892 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A,T [Show Flanks]
          Chromosome:
          20:59877512 (GRCh38)
          20:58452567 (GRCh37)
          Canonical SPDI:
          NC_000020.11:59877511:G:A,NC_000020.11:59877511:G:T
          Gene:
          SYCP2 (Varview)
          Functional Consequence:
          coding_sequence_variant,intron_variant,missense_variant
          Clinical significance:
          benign
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          A=0.001885/389 (ALFA)
          A=0./0 (KOREAN)
          A=0.000259/1 (ALSPAC)
          A=0.000539/2 (TWINSUK)
          A=0.000546/1 (Korea1K)
          A=0.000779/13 (TOMMO)
          A=0.003333/797 (GnomAD_exomes)
          A=0.003967/478 (ExAC)
          A=0.005618/3 (MGP)
          A=0.01224/159 (GoESP)
          A=0.012336/62 (1000Genomes)
          A=0.012551/1755 (GnomAD)
          A=0.013155/3482 (TOPMED)
          A=0.019759/1555 (PAGE_STUDY)
          G=0.5/4 (SGDP_PRJ)
          HGVS:
          NC_000020.11:g.59877512G>A, NC_000020.11:g.59877512G>T, NC_000020.10:g.58452567G>A, NC_000020.10:g.58452567G>T, NG_046980.1:g.61170C>T, NG_046980.1:g.61170C>A, NM_014258.4:c.3023C>T, NM_014258.4:c.3023C>A, NM_014258.3:c.3023C>T, NM_014258.3:c.3023C>A, NM_014258.2:c.3023C>T, NM_014258.2:c.3023C>A, XM_011528487.4:c.3044C>T, XM_011528487.4:c.3044C>A, XM_011528487.3:c.3044C>T, XM_011528487.3:c.3044C>A, XM_011528487.2:c.3044C>T, XM_011528487.2:c.3044C>A, XM_011528487.1:c.3044C>T, XM_011528487.1:c.3044C>A, XM_011528490.4:c.3020C>T, XM_011528490.4:c.3020C>A, XM_011528490.3:c.3020C>T, XM_011528490.3:c.3020C>A, XM_011528490.2:c.3020C>T, XM_011528490.2:c.3020C>A, XM_011528490.1:c.3020C>T, XM_011528490.1:c.3020C>A, XM_011528488.3:c.3044C>T, XM_011528488.3:c.3044C>A, XM_011528488.2:c.3044C>T, XM_011528488.2:c.3044C>A, XM_011528488.1:c.3044C>T, XM_011528488.1:c.3044C>A, XM_011528489.3:c.3023C>T, XM_011528489.3:c.3023C>A, XM_011528489.2:c.3023C>T, XM_011528489.2:c.3023C>A, XM_011528489.1:c.3023C>T, XM_011528489.1:c.3023C>A, XM_017027586.2:c.3044C>T, XM_017027586.2:c.3044C>A, XM_017027586.1:c.3044C>T, XM_017027586.1:c.3044C>A, XM_017027587.2:c.3041C>T, XM_017027587.2:c.3041C>A, XM_017027587.1:c.3041C>T, XM_017027587.1:c.3041C>A, XM_047439825.1:c.3023C>T, XM_047439825.1:c.3023C>A, XM_047439826.1:c.3044C>T, XM_047439826.1:c.3044C>A, XM_047439829.1:c.2528C>T, XM_047439829.1:c.2528C>A, NP_055073.2:p.Pro1008Leu, NP_055073.2:p.Pro1008Gln, XP_011526789.1:p.Pro1015Leu, XP_011526789.1:p.Pro1015Gln, XP_011526792.1:p.Pro1007Leu, XP_011526792.1:p.Pro1007Gln, XP_011526790.1:p.Pro1015Leu, XP_011526790.1:p.Pro1015Gln, XP_011526791.1:p.Pro1008Leu, XP_011526791.1:p.Pro1008Gln, XP_016883075.1:p.Pro1015Leu, XP_016883075.1:p.Pro1015Gln, XP_016883076.1:p.Pro1014Leu, XP_016883076.1:p.Pro1014Gln, XP_047295781.1:p.Pro1008Leu, XP_047295781.1:p.Pro1008Gln, XP_047295782.1:p.Pro1015Leu, XP_047295782.1:p.Pro1015Gln, XP_047295785.1:p.Pro843Leu, XP_047295785.1:p.Pro843Gln

          5.

          rs78182350 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A,T [Show Flanks]
            Chromosome:
            20:59919590 (GRCh38)
            20:58494645 (GRCh37)
            Canonical SPDI:
            NC_000020.11:59919589:G:A,NC_000020.11:59919589:G:T
            Gene:
            SYCP2 (Varview)
            Functional Consequence:
            coding_sequence_variant,upstream_transcript_variant,genic_upstream_transcript_variant,missense_variant
            Clinical significance:
            benign
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            A=0.000897/129 (ALFA)
            A=0.000259/1 (ALSPAC)
            A=0.000539/2 (TWINSUK)
            A=0.005618/3 (MGP)
            A=0.012336/62 (1000Genomes)
            A=0.012775/166 (GoESP)
            A=0.014013/3709 (TOPMED)
            A=0.021105/1661 (PAGE_STUDY)
            G=0.5/4 (SGDP_PRJ)
            HGVS:
            NC_000020.11:g.59919590G>A, NC_000020.11:g.59919590G>T, NC_000020.10:g.58494645G>A, NC_000020.10:g.58494645G>T, NG_046980.1:g.19092C>T, NG_046980.1:g.19092C>A, NM_014258.4:c.305C>T, NM_014258.4:c.305C>A, NM_014258.3:c.305C>T, NM_014258.3:c.305C>A, NM_014258.2:c.305C>T, NM_014258.2:c.305C>A, XM_011528487.4:c.326C>T, XM_011528487.4:c.326C>A, XM_011528487.3:c.326C>T, XM_011528487.3:c.326C>A, XM_011528487.2:c.326C>T, XM_011528487.2:c.326C>A, XM_011528487.1:c.326C>T, XM_011528487.1:c.326C>A, XM_011528490.4:c.302C>T, XM_011528490.4:c.302C>A, XM_011528490.3:c.302C>T, XM_011528490.3:c.302C>A, XM_011528490.2:c.302C>T, XM_011528490.2:c.302C>A, XM_011528490.1:c.302C>T, XM_011528490.1:c.302C>A, XM_011528488.3:c.326C>T, XM_011528488.3:c.326C>A, XM_011528488.2:c.326C>T, XM_011528488.2:c.326C>A, XM_011528488.1:c.326C>T, XM_011528488.1:c.326C>A, XM_011528489.3:c.305C>T, XM_011528489.3:c.305C>A, XM_011528489.2:c.305C>T, XM_011528489.2:c.305C>A, XM_011528489.1:c.305C>T, XM_011528489.1:c.305C>A, XM_017027586.2:c.326C>T, XM_017027586.2:c.326C>A, XM_017027586.1:c.326C>T, XM_017027586.1:c.326C>A, XM_017027587.2:c.323C>T, XM_017027587.2:c.323C>A, XM_017027587.1:c.323C>T, XM_017027587.1:c.323C>A, XM_047439825.1:c.305C>T, XM_047439825.1:c.305C>A, XM_047439826.1:c.326C>T, XM_047439826.1:c.326C>A, XM_047439827.1:c.326C>T, XM_047439827.1:c.326C>A, XM_047439828.1:c.326C>T, XM_047439828.1:c.326C>A, NP_055073.2:p.Ala102Val, NP_055073.2:p.Ala102Asp, XP_011526789.1:p.Ala109Val, XP_011526789.1:p.Ala109Asp, XP_011526792.1:p.Ala101Val, XP_011526792.1:p.Ala101Asp, XP_011526790.1:p.Ala109Val, XP_011526790.1:p.Ala109Asp, XP_011526791.1:p.Ala102Val, XP_011526791.1:p.Ala102Asp, XP_016883075.1:p.Ala109Val, XP_016883075.1:p.Ala109Asp, XP_016883076.1:p.Ala108Val, XP_016883076.1:p.Ala108Asp, XP_047295781.1:p.Ala102Val, XP_047295781.1:p.Ala102Asp, XP_047295782.1:p.Ala109Val, XP_047295782.1:p.Ala109Asp, XP_047295783.1:p.Ala109Val, XP_047295783.1:p.Ala109Asp, XP_047295784.1:p.Ala109Val, XP_047295784.1:p.Ala109Asp

            6.

            rs78462832 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A,T [Show Flanks]
              Chromosome:
              20:59867813 (GRCh38)
              20:58442868 (GRCh37)
              Canonical SPDI:
              NC_000020.11:59867812:G:A,NC_000020.11:59867812:G:T
              Gene:
              SYCP2 (Varview)
              Functional Consequence:
              coding_sequence_variant,synonymous_variant,missense_variant
              Clinical significance:
              benign
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              A=0.00004/2 (ALFA)
              A=0.00406/20 (1000Genomes)
              A=0.00463/1 (Qatari)
              A=0.01136/7 (Vietnamese)
              A=0.0115/193 (TOMMO)
              A=0.01882/55 (KOREAN)
              A=0.0191/35 (Korea1K)
              G=0.25/1 (SGDP_PRJ)
              HGVS:
              NC_000020.11:g.59867813G>A, NC_000020.11:g.59867813G>T, NC_000020.10:g.58442868G>A, NC_000020.10:g.58442868G>T, NG_046980.1:g.70869C>T, NG_046980.1:g.70869C>A, NM_014258.4:c.4023C>T, NM_014258.4:c.4023C>A, NM_014258.3:c.4023C>T, NM_014258.3:c.4023C>A, NM_014258.2:c.4023C>T, NM_014258.2:c.4023C>A, XM_011528487.4:c.4044C>T, XM_011528487.4:c.4044C>A, XM_011528487.3:c.4044C>T, XM_011528487.3:c.4044C>A, XM_011528487.2:c.4044C>T, XM_011528487.2:c.4044C>A, XM_011528487.1:c.4044C>T, XM_011528487.1:c.4044C>A, XM_011528490.4:c.4020C>T, XM_011528490.4:c.4020C>A, XM_011528490.3:c.4020C>T, XM_011528490.3:c.4020C>A, XM_011528490.2:c.4020C>T, XM_011528490.2:c.4020C>A, XM_011528490.1:c.4020C>T, XM_011528490.1:c.4020C>A, XM_011528488.3:c.4044C>T, XM_011528488.3:c.4044C>A, XM_011528488.2:c.4044C>T, XM_011528488.2:c.4044C>A, XM_011528488.1:c.4044C>T, XM_011528488.1:c.4044C>A, XM_011528489.3:c.4023C>T, XM_011528489.3:c.4023C>A, XM_011528489.2:c.4023C>T, XM_011528489.2:c.4023C>A, XM_011528489.1:c.4023C>T, XM_011528489.1:c.4023C>A, XM_017027586.2:c.4044C>T, XM_017027586.2:c.4044C>A, XM_017027586.1:c.4044C>T, XM_017027586.1:c.4044C>A, XM_017027587.2:c.4041C>T, XM_017027587.2:c.4041C>A, XM_017027587.1:c.4041C>T, XM_017027587.1:c.4041C>A, XM_047439825.1:c.4023C>T, XM_047439825.1:c.4023C>A, XM_047439826.1:c.3888C>T, XM_047439826.1:c.3888C>A, XM_047439827.1:c.3873C>T, XM_047439827.1:c.3873C>A, XM_047439828.1:c.3717C>T, XM_047439828.1:c.3717C>A, XM_047439829.1:c.3528C>T, XM_047439829.1:c.3528C>A, NP_055073.2:p.Asp1341Glu, XP_011526789.1:p.Asp1348Glu, XP_011526792.1:p.Asp1340Glu, XP_011526790.1:p.Asp1348Glu, XP_011526791.1:p.Asp1341Glu, XP_016883075.1:p.Asp1348Glu, XP_016883076.1:p.Asp1347Glu, XP_047295781.1:p.Asp1341Glu, XP_047295782.1:p.Asp1296Glu, XP_047295783.1:p.Asp1291Glu, XP_047295784.1:p.Asp1239Glu, XP_047295785.1:p.Asp1176Glu

              7.

              rs115051019 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>A,C [Show Flanks]
                Chromosome:
                20:59880359 (GRCh38)
                20:58455414 (GRCh37)
                Canonical SPDI:
                NC_000020.11:59880358:T:A,NC_000020.11:59880358:T:C
                Gene:
                SYCP2 (Varview)
                Functional Consequence:
                missense_variant,coding_sequence_variant
                Clinical significance:
                benign
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                C=0.000301/55 (ALFA)
                C=0.001759/113 (ExAC)
                C=0.003311/43 (GoESP)
                C=0.003324/465 (GnomAD)
                C=0.003646/965 (TOPMED)
                C=0.00463/1 (Qatari)
                C=0.004997/25 (1000Genomes)
                C=0.00535/421 (PAGE_STUDY)
                HGVS:
                NC_000020.11:g.59880359T>A, NC_000020.11:g.59880359T>C, NC_000020.10:g.58455414T>A, NC_000020.10:g.58455414T>C, NG_046980.1:g.58323A>T, NG_046980.1:g.58323A>G, NM_014258.4:c.2885A>T, NM_014258.4:c.2885A>G, NM_014258.3:c.2885A>T, NM_014258.3:c.2885A>G, NM_014258.2:c.2885A>T, NM_014258.2:c.2885A>G, XM_011528487.4:c.2906A>T, XM_011528487.4:c.2906A>G, XM_011528487.3:c.2906A>T, XM_011528487.3:c.2906A>G, XM_011528487.2:c.2906A>T, XM_011528487.2:c.2906A>G, XM_011528487.1:c.2906A>T, XM_011528487.1:c.2906A>G, XM_011528490.4:c.2882A>T, XM_011528490.4:c.2882A>G, XM_011528490.3:c.2882A>T, XM_011528490.3:c.2882A>G, XM_011528490.2:c.2882A>T, XM_011528490.2:c.2882A>G, XM_011528490.1:c.2882A>T, XM_011528490.1:c.2882A>G, XM_011528488.3:c.2906A>T, XM_011528488.3:c.2906A>G, XM_011528488.2:c.2906A>T, XM_011528488.2:c.2906A>G, XM_011528488.1:c.2906A>T, XM_011528488.1:c.2906A>G, XM_011528489.3:c.2885A>T, XM_011528489.3:c.2885A>G, XM_011528489.2:c.2885A>T, XM_011528489.2:c.2885A>G, XM_011528489.1:c.2885A>T, XM_011528489.1:c.2885A>G, XM_017027586.2:c.2906A>T, XM_017027586.2:c.2906A>G, XM_017027586.1:c.2906A>T, XM_017027586.1:c.2906A>G, XM_017027587.2:c.2903A>T, XM_017027587.2:c.2903A>G, XM_017027587.1:c.2903A>T, XM_017027587.1:c.2903A>G, XM_047439825.1:c.2885A>T, XM_047439825.1:c.2885A>G, XM_047439826.1:c.2906A>T, XM_047439826.1:c.2906A>G, XM_047439827.1:c.2906A>T, XM_047439827.1:c.2906A>G, XM_047439828.1:c.2906A>T, XM_047439828.1:c.2906A>G, XM_047439829.1:c.2390A>T, XM_047439829.1:c.2390A>G, NP_055073.2:p.Gln962Leu, NP_055073.2:p.Gln962Arg, XP_011526789.1:p.Gln969Leu, XP_011526789.1:p.Gln969Arg, XP_011526792.1:p.Gln961Leu, XP_011526792.1:p.Gln961Arg, XP_011526790.1:p.Gln969Leu, XP_011526790.1:p.Gln969Arg, XP_011526791.1:p.Gln962Leu, XP_011526791.1:p.Gln962Arg, XP_016883075.1:p.Gln969Leu, XP_016883075.1:p.Gln969Arg, XP_016883076.1:p.Gln968Leu, XP_016883076.1:p.Gln968Arg, XP_047295781.1:p.Gln962Leu, XP_047295781.1:p.Gln962Arg, XP_047295782.1:p.Gln969Leu, XP_047295782.1:p.Gln969Arg, XP_047295783.1:p.Gln969Leu, XP_047295783.1:p.Gln969Arg, XP_047295784.1:p.Gln969Leu, XP_047295784.1:p.Gln969Arg, XP_047295785.1:p.Gln797Leu, XP_047295785.1:p.Gln797Arg

                8.

                rs142942464 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  T>C [Show Flanks]
                  Chromosome:
                  20:59886747 (GRCh38)
                  20:58461802 (GRCh37)
                  Canonical SPDI:
                  NC_000020.11:59886746:T:C
                  Gene:
                  SYCP2 (Varview)
                  Functional Consequence:
                  missense_variant,coding_sequence_variant
                  Clinical significance:
                  benign
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  C=0.009483/1087 (ALFA)
                  C=0.002342/12 (1000Genomes)
                  C=0.003062/241 (PAGE_STUDY)
                  C=0.006274/1456 (GnomAD_exomes)
                  C=0.0064/1694 (TOPMED)
                  C=0.006635/930 (GnomAD)
                  C=0.006821/793 (ExAC)
                  C=0.007589/34 (Estonian)
                  C=0.009021/117 (GoESP)
                  C=0.009259/2 (Qatari)
                  C=0.011022/11 (GoNL)
                  C=0.012136/45 (TWINSUK)
                  C=0.013333/8 (NorthernSweden)
                  C=0.014981/8 (MGP)
                  C=0.015049/58 (ALSPAC)
                  C=0.016447/5 (FINRISK)
                  T=0.5/2 (SGDP_PRJ)
                  HGVS:
                  NC_000020.11:g.59886747T>C, NC_000020.10:g.58461802T>C, NG_046980.1:g.51935A>G, NM_014258.4:c.2452A>G, NM_014258.3:c.2452A>G, NM_014258.2:c.2452A>G, XM_011528487.4:c.2473A>G, XM_011528487.3:c.2473A>G, XM_011528487.2:c.2473A>G, XM_011528487.1:c.2473A>G, XM_011528490.4:c.2449A>G, XM_011528490.3:c.2449A>G, XM_011528490.2:c.2449A>G, XM_011528490.1:c.2449A>G, XM_011528488.3:c.2473A>G, XM_011528488.2:c.2473A>G, XM_011528488.1:c.2473A>G, XM_011528489.3:c.2452A>G, XM_011528489.2:c.2452A>G, XM_011528489.1:c.2452A>G, XM_017027586.2:c.2473A>G, XM_017027586.1:c.2473A>G, XM_017027587.2:c.2470A>G, XM_017027587.1:c.2470A>G, XM_047439825.1:c.2452A>G, XM_047439826.1:c.2473A>G, XM_047439827.1:c.2473A>G, XM_047439828.1:c.2473A>G, XM_047439829.1:c.1957A>G, NP_055073.2:p.Ile818Val, XP_011526789.1:p.Ile825Val, XP_011526792.1:p.Ile817Val, XP_011526790.1:p.Ile825Val, XP_011526791.1:p.Ile818Val, XP_016883075.1:p.Ile825Val, XP_016883076.1:p.Ile824Val, XP_047295781.1:p.Ile818Val, XP_047295782.1:p.Ile825Val, XP_047295783.1:p.Ile825Val, XP_047295784.1:p.Ile825Val, XP_047295785.1:p.Ile653Val

                  9.

                  rs151163205 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>G,T [Show Flanks]
                    Chromosome:
                    20:59880392 (GRCh38)
                    20:58455447 (GRCh37)
                    Canonical SPDI:
                    NC_000020.11:59880391:A:G,NC_000020.11:59880391:A:T
                    Gene:
                    SYCP2 (Varview)
                    Functional Consequence:
                    missense_variant,coding_sequence_variant
                    Clinical significance:
                    benign
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    G=0.003011/409 (ALFA)
                    G=0.001002/1 (GoNL)
                    G=0.001816/7 (ALSPAC)
                    G=0.001873/1 (MGP)
                    G=0.001888/7 (TWINSUK)
                    G=0.001931/152 (PAGE_STUDY)
                    G=0.002309/323 (GnomAD)
                    G=0.00231/30 (GoESP)
                    G=0.002467/653 (TOPMED)
                    G=0.002811/14 (1000Genomes)
                    G=0.003348/15 (Estonian)
                    G=0.007467/532 (ExAC)
                    G=0.009259/2 (Qatari)
                    A=0.5/1 (Siberian)
                    A=0.5/5 (SGDP_PRJ)
                    HGVS:
                    NC_000020.11:g.59880392A>G, NC_000020.11:g.59880392A>T, NC_000020.10:g.58455447A>G, NC_000020.10:g.58455447A>T, NG_046980.1:g.58290T>C, NG_046980.1:g.58290T>A, NM_014258.4:c.2852T>C, NM_014258.4:c.2852T>A, NM_014258.3:c.2852T>C, NM_014258.3:c.2852T>A, NM_014258.2:c.2852T>C, NM_014258.2:c.2852T>A, XM_011528487.4:c.2873T>C, XM_011528487.4:c.2873T>A, XM_011528487.3:c.2873T>C, XM_011528487.3:c.2873T>A, XM_011528487.2:c.2873T>C, XM_011528487.2:c.2873T>A, XM_011528487.1:c.2873T>C, XM_011528487.1:c.2873T>A, XM_011528490.4:c.2849T>C, XM_011528490.4:c.2849T>A, XM_011528490.3:c.2849T>C, XM_011528490.3:c.2849T>A, XM_011528490.2:c.2849T>C, XM_011528490.2:c.2849T>A, XM_011528490.1:c.2849T>C, XM_011528490.1:c.2849T>A, XM_011528488.3:c.2873T>C, XM_011528488.3:c.2873T>A, XM_011528488.2:c.2873T>C, XM_011528488.2:c.2873T>A, XM_011528488.1:c.2873T>C, XM_011528488.1:c.2873T>A, XM_011528489.3:c.2852T>C, XM_011528489.3:c.2852T>A, XM_011528489.2:c.2852T>C, XM_011528489.2:c.2852T>A, XM_011528489.1:c.2852T>C, XM_011528489.1:c.2852T>A, XM_017027586.2:c.2873T>C, XM_017027586.2:c.2873T>A, XM_017027586.1:c.2873T>C, XM_017027586.1:c.2873T>A, XM_017027587.2:c.2870T>C, XM_017027587.2:c.2870T>A, XM_017027587.1:c.2870T>C, XM_017027587.1:c.2870T>A, XM_047439825.1:c.2852T>C, XM_047439825.1:c.2852T>A, XM_047439826.1:c.2873T>C, XM_047439826.1:c.2873T>A, XM_047439827.1:c.2873T>C, XM_047439827.1:c.2873T>A, XM_047439828.1:c.2873T>C, XM_047439828.1:c.2873T>A, XM_047439829.1:c.2357T>C, XM_047439829.1:c.2357T>A, NP_055073.2:p.Ile951Thr, NP_055073.2:p.Ile951Asn, XP_011526789.1:p.Ile958Thr, XP_011526789.1:p.Ile958Asn, XP_011526792.1:p.Ile950Thr, XP_011526792.1:p.Ile950Asn, XP_011526790.1:p.Ile958Thr, XP_011526790.1:p.Ile958Asn, XP_011526791.1:p.Ile951Thr, XP_011526791.1:p.Ile951Asn, XP_016883075.1:p.Ile958Thr, XP_016883075.1:p.Ile958Asn, XP_016883076.1:p.Ile957Thr, XP_016883076.1:p.Ile957Asn, XP_047295781.1:p.Ile951Thr, XP_047295781.1:p.Ile951Asn, XP_047295782.1:p.Ile958Thr, XP_047295782.1:p.Ile958Asn, XP_047295783.1:p.Ile958Thr, XP_047295783.1:p.Ile958Asn, XP_047295784.1:p.Ile958Thr, XP_047295784.1:p.Ile958Asn, XP_047295785.1:p.Ile786Thr, XP_047295785.1:p.Ile786Asn

                    10.

                    rs193921008 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>G [Show Flanks]
                      Chromosome:
                      20:59886842 (GRCh38)
                      20:58461897 (GRCh37)
                      Canonical SPDI:
                      NC_000020.11:59886841:A:G
                      Gene:
                      SYCP2 (Varview)
                      Functional Consequence:
                      intron_variant
                      Clinical significance:
                      uncertain-significance
                      HGVS:

                      11.

                      rs753462162 [Homo sapiens]
                        Variant type:
                        DELINS
                        Alleles:
                        TTTTT>-,TT,TTTT,TTTTTT [Show Flanks]
                        Chromosome:
                        20:59877468 (GRCh38)
                        20:58452523 (GRCh37)
                        Canonical SPDI:
                        NC_000020.11:59877463:TTTTTTTTT:TTTT,NC_000020.11:59877463:TTTTTTTTT:TTTTTT,NC_000020.11:59877463:TTTTTTTTT:TTTTTTTT,NC_000020.11:59877463:TTTTTTTTT:TTTTTTTTTT
                        Gene:
                        SYCP2 (Varview)
                        Functional Consequence:
                        inframe_deletion,frameshift_variant,coding_sequence_variant,intron_variant
                        Clinical significance:
                        pathogenic,likely-pathogenic
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        TTTTTTTT=0.000781/18 (ALFA)
                        -=0.000004/1 (TOPMED)
                        T=0.000022/3 (GnomAD)
                        T=0.0016/20 (GoESP)
                        HGVS:
                        NC_000020.11:g.59877468_59877472del, NC_000020.11:g.59877470_59877472del, NC_000020.11:g.59877472del, NC_000020.11:g.59877472dup, NC_000020.10:g.58452523_58452527del, NC_000020.10:g.58452525_58452527del, NC_000020.10:g.58452527del, NC_000020.10:g.58452527dup, NG_046980.1:g.61214_61218del, NG_046980.1:g.61216_61218del, NG_046980.1:g.61218del, NG_046980.1:g.61218dup, NM_014258.4:c.3067_3071del, NM_014258.4:c.3069_3071del, NM_014258.4:c.3071del, NM_014258.4:c.3071dup, NM_014258.3:c.3067_3071del, NM_014258.3:c.3069_3071del, NM_014258.3:c.3071del, NM_014258.3:c.3071dup, NM_014258.2:c.3067_3071del, NM_014258.2:c.3069_3071del, NM_014258.2:c.3071del, NM_014258.2:c.3071dup, XM_011528487.4:c.3088_3092del, XM_011528487.4:c.3090_3092del, XM_011528487.4:c.3092del, XM_011528487.4:c.3092dup, XM_011528487.3:c.3088_3092del, XM_011528487.3:c.3090_3092del, XM_011528487.3:c.3092del, XM_011528487.3:c.3092dup, XM_011528487.2:c.3088_3092del, XM_011528487.2:c.3090_3092del, XM_011528487.2:c.3092del, XM_011528487.2:c.3092dup, XM_011528487.1:c.3088_3092del, XM_011528487.1:c.3090_3092del, XM_011528487.1:c.3092del, XM_011528487.1:c.3092dup, XM_011528490.4:c.3064_3068del, XM_011528490.4:c.3066_3068del, XM_011528490.4:c.3068del, XM_011528490.4:c.3068dup, XM_011528490.3:c.3064_3068del, XM_011528490.3:c.3066_3068del, XM_011528490.3:c.3068del, XM_011528490.3:c.3068dup, XM_011528490.2:c.3064_3068del, XM_011528490.2:c.3066_3068del, XM_011528490.2:c.3068del, XM_011528490.2:c.3068dup, XM_011528490.1:c.3064_3068del, XM_011528490.1:c.3066_3068del, XM_011528490.1:c.3068del, XM_011528490.1:c.3068dup, XM_011528488.3:c.3088_3092del, XM_011528488.3:c.3090_3092del, XM_011528488.3:c.3092del, XM_011528488.3:c.3092dup, XM_011528488.2:c.3088_3092del, XM_011528488.2:c.3090_3092del, XM_011528488.2:c.3092del, XM_011528488.2:c.3092dup, XM_011528488.1:c.3088_3092del, XM_011528488.1:c.3090_3092del, XM_011528488.1:c.3092del, XM_011528488.1:c.3092dup, XM_011528489.3:c.3067_3071del, XM_011528489.3:c.3069_3071del, XM_011528489.3:c.3071del, XM_011528489.3:c.3071dup, XM_011528489.2:c.3067_3071del, XM_011528489.2:c.3069_3071del, XM_011528489.2:c.3071del, XM_011528489.2:c.3071dup, XM_011528489.1:c.3067_3071del, XM_011528489.1:c.3069_3071del, XM_011528489.1:c.3071del, XM_011528489.1:c.3071dup, XM_017027586.2:c.3088_3092del, XM_017027586.2:c.3090_3092del, XM_017027586.2:c.3092del, XM_017027586.2:c.3092dup, XM_017027586.1:c.3088_3092del, XM_017027586.1:c.3090_3092del, XM_017027586.1:c.3092del, XM_017027586.1:c.3092dup, XM_017027587.2:c.3085_3089del, XM_017027587.2:c.3087_3089del, XM_017027587.2:c.3089del, XM_017027587.2:c.3089dup, XM_017027587.1:c.3085_3089del, XM_017027587.1:c.3087_3089del, XM_017027587.1:c.3089del, XM_017027587.1:c.3089dup, XM_047439825.1:c.3067_3071del, XM_047439825.1:c.3069_3071del, XM_047439825.1:c.3071del, XM_047439825.1:c.3071dup, XM_047439826.1:c.3088_3092del, XM_047439826.1:c.3090_3092del, XM_047439826.1:c.3092del, XM_047439826.1:c.3092dup, XM_047439829.1:c.2572_2576del, XM_047439829.1:c.2574_2576del, XM_047439829.1:c.2576del, XM_047439829.1:c.2576dup, NP_055073.2:p.Lys1023fs, NP_055073.2:p.Lys1023del, NP_055073.2:p.Asn1024fs, NP_055073.2:p.Asn1024fs, XP_011526789.1:p.Lys1030fs, XP_011526789.1:p.Lys1030del, XP_011526789.1:p.Asn1031fs, XP_011526789.1:p.Asn1031fs, XP_011526792.1:p.Lys1022fs, XP_011526792.1:p.Lys1022del, XP_011526792.1:p.Asn1023fs, XP_011526792.1:p.Asn1023fs, XP_011526790.1:p.Lys1030fs, XP_011526790.1:p.Lys1030del, XP_011526790.1:p.Asn1031fs, XP_011526790.1:p.Asn1031fs, XP_011526791.1:p.Lys1023fs, XP_011526791.1:p.Lys1023del, XP_011526791.1:p.Asn1024fs, XP_011526791.1:p.Asn1024fs, XP_016883075.1:p.Lys1030fs, XP_016883075.1:p.Lys1030del, XP_016883075.1:p.Asn1031fs, XP_016883075.1:p.Asn1031fs, XP_016883076.1:p.Lys1029fs, XP_016883076.1:p.Lys1029del, XP_016883076.1:p.Asn1030fs, XP_016883076.1:p.Asn1030fs, XP_047295781.1:p.Lys1023fs, XP_047295781.1:p.Lys1023del, XP_047295781.1:p.Asn1024fs, XP_047295781.1:p.Asn1024fs, XP_047295782.1:p.Lys1030fs, XP_047295782.1:p.Lys1030del, XP_047295782.1:p.Asn1031fs, XP_047295782.1:p.Asn1031fs, XP_047295785.1:p.Lys858fs, XP_047295785.1:p.Lys858del, XP_047295785.1:p.Asn859fs, XP_047295785.1:p.Asn859fs

                        12.

                        rs1600840291 [Homo sapiens]
                          Variant type:
                          DELINS
                          Alleles:
                          CTTTT>- [Show Flanks]
                          Chromosome:
                          20:59880451 (GRCh38)
                          20:58455506 (GRCh37)
                          Canonical SPDI:
                          NC_000020.11:59880446:TTTTCTTTT:TTTT
                          Gene:
                          SYCP2 (Varview)
                          Functional Consequence:
                          frameshift_variant,coding_sequence_variant
                          Clinical significance:
                          pathogenic,likely-pathogenic
                          HGVS:
                          NC_000020.11:g.59880451_59880455del, NC_000020.10:g.58455506_58455510del, NG_046980.1:g.58231_58235del, NM_014258.4:c.2793_2797del, NM_014258.3:c.2793_2797del, NM_014258.2:c.2793_2797del, XM_011528487.4:c.2814_2818del, XM_011528487.3:c.2814_2818del, XM_011528487.2:c.2814_2818del, XM_011528487.1:c.2814_2818del, XM_011528490.4:c.2790_2794del, XM_011528490.3:c.2790_2794del, XM_011528490.2:c.2790_2794del, XM_011528490.1:c.2790_2794del, XM_011528488.3:c.2814_2818del, XM_011528488.2:c.2814_2818del, XM_011528488.1:c.2814_2818del, XM_011528489.3:c.2793_2797del, XM_011528489.2:c.2793_2797del, XM_011528489.1:c.2793_2797del, XM_017027586.2:c.2814_2818del, XM_017027586.1:c.2814_2818del, XM_017027587.2:c.2811_2815del, XM_017027587.1:c.2811_2815del, XM_047439825.1:c.2793_2797del, XM_047439826.1:c.2814_2818del, XM_047439827.1:c.2814_2818del, XM_047439828.1:c.2814_2818del, XM_047439829.1:c.2298_2302del, NP_055073.2:p.Lys932fs, XP_011526789.1:p.Lys939fs, XP_011526792.1:p.Lys931fs, XP_011526790.1:p.Lys939fs, XP_011526791.1:p.Lys932fs, XP_016883075.1:p.Lys939fs, XP_016883076.1:p.Lys938fs, XP_047295781.1:p.Lys932fs, XP_047295782.1:p.Lys939fs, XP_047295783.1:p.Lys939fs, XP_047295784.1:p.Lys939fs, XP_047295785.1:p.Lys767fs

                          13.

                          rs1600877766 [Homo sapiens]
                            Variant type:
                            DELINS
                            Alleles:
                            TCTT>- [Show Flanks]
                            Chromosome:
                            20:59892334 (GRCh38)
                            20:58467389 (GRCh37)
                            Canonical SPDI:
                            NC_000020.11:59892328:TTCTTTCTT:TTCTT
                            Gene:
                            SYCP2 (Varview)
                            Functional Consequence:
                            frameshift_variant,coding_sequence_variant
                            Clinical significance:
                            pathogenic,likely-pathogenic
                            HGVS:
                            NC_000020.11:g.59892330TCTT[1], NC_000020.10:g.58467385TCTT[1], NG_046980.1:g.46346AGAA[1], NM_014258.4:c.2022_2025del, NM_014258.3:c.2022_2025del, NM_014258.2:c.2022_2025del, XM_011528487.4:c.2043_2046del, XM_011528487.3:c.2043_2046del, XM_011528487.2:c.2043_2046del, XM_011528487.1:c.2043_2046del, XM_011528490.4:c.2019_2022del, XM_011528490.3:c.2019_2022del, XM_011528490.2:c.2019_2022del, XM_011528490.1:c.2019_2022del, XM_011528488.3:c.2043_2046del, XM_011528488.2:c.2043_2046del, XM_011528488.1:c.2043_2046del, XM_011528489.3:c.2022_2025del, XM_011528489.2:c.2022_2025del, XM_011528489.1:c.2022_2025del, XM_017027586.2:c.2043_2046del, XM_017027586.1:c.2043_2046del, XM_017027587.2:c.2040_2043del, XM_017027587.1:c.2040_2043del, XM_047439825.1:c.2022_2025del, XM_047439826.1:c.2043_2046del, XM_047439827.1:c.2043_2046del, XM_047439828.1:c.2043_2046del, XM_047439829.1:c.1527_1530del, NP_055073.2:p.Lys674fs, XP_011526789.1:p.Lys681fs, XP_011526792.1:p.Lys673fs, XP_011526790.1:p.Lys681fs, XP_011526791.1:p.Lys674fs, XP_016883075.1:p.Lys681fs, XP_016883076.1:p.Lys680fs, XP_047295781.1:p.Lys674fs, XP_047295782.1:p.Lys681fs, XP_047295783.1:p.Lys681fs, XP_047295784.1:p.Lys681fs, XP_047295785.1:p.Lys509fs

                            14.

                            rs61733225 has merged into rs58905758 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>G,T [Show Flanks]
                              Chromosome:
                              20:59866557 (GRCh38)
                              20:58441612 (GRCh37)
                              Canonical SPDI:
                              NC_000020.11:59866556:C:G,NC_000020.11:59866556:C:T
                              Gene:
                              SYCP2 (Varview)
                              Functional Consequence:
                              coding_sequence_variant,synonymous_variant
                              Clinical significance:
                              benign
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              T=0.001557/87 (ALFA)
                              T=0.001667/1 (NorthernSweden)
                              T=0.001873/1 (MGP)
                              T=0.003857/937 (GnomAD_exomes)
                              T=0.00463/1 (Vietnamese)
                              T=0.004773/573 (ExAC)
                              T=0.015459/201 (GoESP)
                              T=0.015742/2201 (GnomAD)
                              T=0.01648/4362 (TOPMED)
                              T=0.019363/97 (1000Genomes)
                              C=0.5/3 (SGDP_PRJ)
                              HGVS:
                              NC_000020.11:g.59866557C>G, NC_000020.11:g.59866557C>T, NC_000020.10:g.58441612C>G, NC_000020.10:g.58441612C>T, NG_046980.1:g.72125G>C, NG_046980.1:g.72125G>A, NM_014258.4:c.4158G>C, NM_014258.4:c.4158G>A, NM_014258.3:c.4158G>C, NM_014258.3:c.4158G>A, NM_014258.2:c.4158G>C, NM_014258.2:c.4158G>A, XM_011528487.4:c.4179G>C, XM_011528487.4:c.4179G>A, XM_011528487.3:c.4179G>C, XM_011528487.3:c.4179G>A, XM_011528487.2:c.4179G>C, XM_011528487.2:c.4179G>A, XM_011528487.1:c.4179G>C, XM_011528487.1:c.4179G>A, XM_011528490.4:c.4155G>C, XM_011528490.4:c.4155G>A, XM_011528490.3:c.4155G>C, XM_011528490.3:c.4155G>A, XM_011528490.2:c.4155G>C, XM_011528490.2:c.4155G>A, XM_011528490.1:c.4155G>C, XM_011528490.1:c.4155G>A, XM_011528488.3:c.4179G>C, XM_011528488.3:c.4179G>A, XM_011528488.2:c.4179G>C, XM_011528488.2:c.4179G>A, XM_011528488.1:c.4179G>C, XM_011528488.1:c.4179G>A, XM_011528489.3:c.4158G>C, XM_011528489.3:c.4158G>A, XM_011528489.2:c.4158G>C, XM_011528489.2:c.4158G>A, XM_011528489.1:c.4158G>C, XM_011528489.1:c.4158G>A, XM_017027586.2:c.4179G>C, XM_017027586.2:c.4179G>A, XM_017027586.1:c.4179G>C, XM_017027586.1:c.4179G>A, XM_017027587.2:c.4176G>C, XM_017027587.2:c.4176G>A, XM_017027587.1:c.4176G>C, XM_017027587.1:c.4176G>A, XM_047439825.1:c.4158G>C, XM_047439825.1:c.4158G>A, XM_047439826.1:c.4023G>C, XM_047439826.1:c.4023G>A, XM_047439827.1:c.4008G>C, XM_047439827.1:c.4008G>A, XM_047439828.1:c.3852G>C, XM_047439828.1:c.3852G>A, XM_047439829.1:c.3663G>C, XM_047439829.1:c.3663G>A

                              15.

                              rs117598222 has merged into rs61730336 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>G [Show Flanks]
                                Chromosome:
                                20:59892338 (GRCh38)
                                20:58467393 (GRCh37)
                                Canonical SPDI:
                                NC_000020.11:59892337:A:G
                                Gene:
                                SYCP2 (Varview)
                                Functional Consequence:
                                coding_sequence_variant,synonymous_variant
                                Clinical significance:
                                benign
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                G=0.002514/140 (ALFA)
                                G=0.003745/2 (MGP)
                                G=0.007232/94 (GoESP)
                                G=0.008694/1216 (GnomAD)
                                G=0.009037/2246 (GnomAD_exomes)
                                G=0.009155/1101 (ExAC)
                                G=0.009259/2 (Qatari)
                                G=0.010303/2727 (TOPMED)
                                G=0.032636/163 (1000Genomes)
                                G=0.035957/603 (TOMMO)
                                G=0.040273/118 (KOREAN)
                                G=0.042576/78 (Korea1K)
                                G=0.071429/44 (Vietnamese)
                                A=0.5/11 (SGDP_PRJ)
                                HGVS:

                                16.

                                rs779794621 has merged into rs753462162 [Homo sapiens]
                                  Variant type:
                                  DELINS
                                  Alleles:
                                  TTTTT>-,TT,TTTT,TTTTTT [Show Flanks]
                                  Chromosome:
                                  20:59877468 (GRCh38)
                                  20:58452523 (GRCh37)
                                  Canonical SPDI:
                                  NC_000020.11:59877463:TTTTTTTTT:TTTT,NC_000020.11:59877463:TTTTTTTTT:TTTTTT,NC_000020.11:59877463:TTTTTTTTT:TTTTTTTT,NC_000020.11:59877463:TTTTTTTTT:TTTTTTTTTT
                                  Gene:
                                  SYCP2 (Varview)
                                  Functional Consequence:
                                  inframe_deletion,frameshift_variant,coding_sequence_variant,intron_variant
                                  Clinical significance:
                                  pathogenic,likely-pathogenic
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  TTTTTTTT=0.000781/18 (ALFA)
                                  -=0.000004/1 (TOPMED)
                                  T=0.000022/3 (GnomAD)
                                  T=0.0016/20 (GoESP)
                                  HGVS:
                                  NC_000020.11:g.59877468_59877472del, NC_000020.11:g.59877470_59877472del, NC_000020.11:g.59877472del, NC_000020.11:g.59877472dup, NC_000020.10:g.58452523_58452527del, NC_000020.10:g.58452525_58452527del, NC_000020.10:g.58452527del, NC_000020.10:g.58452527dup, NG_046980.1:g.61214_61218del, NG_046980.1:g.61216_61218del, NG_046980.1:g.61218del, NG_046980.1:g.61218dup, NM_014258.4:c.3067_3071del, NM_014258.4:c.3069_3071del, NM_014258.4:c.3071del, NM_014258.4:c.3071dup, NM_014258.3:c.3067_3071del, NM_014258.3:c.3069_3071del, NM_014258.3:c.3071del, NM_014258.3:c.3071dup, NM_014258.2:c.3067_3071del, NM_014258.2:c.3069_3071del, NM_014258.2:c.3071del, NM_014258.2:c.3071dup, XM_011528487.4:c.3088_3092del, XM_011528487.4:c.3090_3092del, XM_011528487.4:c.3092del, XM_011528487.4:c.3092dup, XM_011528487.3:c.3088_3092del, XM_011528487.3:c.3090_3092del, XM_011528487.3:c.3092del, XM_011528487.3:c.3092dup, XM_011528487.2:c.3088_3092del, XM_011528487.2:c.3090_3092del, XM_011528487.2:c.3092del, XM_011528487.2:c.3092dup, XM_011528487.1:c.3088_3092del, XM_011528487.1:c.3090_3092del, XM_011528487.1:c.3092del, XM_011528487.1:c.3092dup, XM_011528490.4:c.3064_3068del, XM_011528490.4:c.3066_3068del, XM_011528490.4:c.3068del, XM_011528490.4:c.3068dup, XM_011528490.3:c.3064_3068del, XM_011528490.3:c.3066_3068del, XM_011528490.3:c.3068del, XM_011528490.3:c.3068dup, XM_011528490.2:c.3064_3068del, XM_011528490.2:c.3066_3068del, XM_011528490.2:c.3068del, XM_011528490.2:c.3068dup, XM_011528490.1:c.3064_3068del, XM_011528490.1:c.3066_3068del, XM_011528490.1:c.3068del, XM_011528490.1:c.3068dup, XM_011528488.3:c.3088_3092del, XM_011528488.3:c.3090_3092del, XM_011528488.3:c.3092del, XM_011528488.3:c.3092dup, XM_011528488.2:c.3088_3092del, XM_011528488.2:c.3090_3092del, XM_011528488.2:c.3092del, XM_011528488.2:c.3092dup, XM_011528488.1:c.3088_3092del, XM_011528488.1:c.3090_3092del, XM_011528488.1:c.3092del, XM_011528488.1:c.3092dup, XM_011528489.3:c.3067_3071del, XM_011528489.3:c.3069_3071del, XM_011528489.3:c.3071del, XM_011528489.3:c.3071dup, XM_011528489.2:c.3067_3071del, XM_011528489.2:c.3069_3071del, XM_011528489.2:c.3071del, XM_011528489.2:c.3071dup, XM_011528489.1:c.3067_3071del, XM_011528489.1:c.3069_3071del, XM_011528489.1:c.3071del, XM_011528489.1:c.3071dup, XM_017027586.2:c.3088_3092del, XM_017027586.2:c.3090_3092del, XM_017027586.2:c.3092del, XM_017027586.2:c.3092dup, XM_017027586.1:c.3088_3092del, XM_017027586.1:c.3090_3092del, XM_017027586.1:c.3092del, XM_017027586.1:c.3092dup, XM_017027587.2:c.3085_3089del, XM_017027587.2:c.3087_3089del, XM_017027587.2:c.3089del, XM_017027587.2:c.3089dup, XM_017027587.1:c.3085_3089del, XM_017027587.1:c.3087_3089del, XM_017027587.1:c.3089del, XM_017027587.1:c.3089dup, XM_047439825.1:c.3067_3071del, XM_047439825.1:c.3069_3071del, XM_047439825.1:c.3071del, XM_047439825.1:c.3071dup, XM_047439826.1:c.3088_3092del, XM_047439826.1:c.3090_3092del, XM_047439826.1:c.3092del, XM_047439826.1:c.3092dup, XM_047439829.1:c.2572_2576del, XM_047439829.1:c.2574_2576del, XM_047439829.1:c.2576del, XM_047439829.1:c.2576dup, NP_055073.2:p.Lys1023fs, NP_055073.2:p.Lys1023del, NP_055073.2:p.Asn1024fs, NP_055073.2:p.Asn1024fs, XP_011526789.1:p.Lys1030fs, XP_011526789.1:p.Lys1030del, XP_011526789.1:p.Asn1031fs, XP_011526789.1:p.Asn1031fs, XP_011526792.1:p.Lys1022fs, XP_011526792.1:p.Lys1022del, XP_011526792.1:p.Asn1023fs, XP_011526792.1:p.Asn1023fs, XP_011526790.1:p.Lys1030fs, XP_011526790.1:p.Lys1030del, XP_011526790.1:p.Asn1031fs, XP_011526790.1:p.Asn1031fs, XP_011526791.1:p.Lys1023fs, XP_011526791.1:p.Lys1023del, XP_011526791.1:p.Asn1024fs, XP_011526791.1:p.Asn1024fs, XP_016883075.1:p.Lys1030fs, XP_016883075.1:p.Lys1030del, XP_016883075.1:p.Asn1031fs, XP_016883075.1:p.Asn1031fs, XP_016883076.1:p.Lys1029fs, XP_016883076.1:p.Lys1029del, XP_016883076.1:p.Asn1030fs, XP_016883076.1:p.Asn1030fs, XP_047295781.1:p.Lys1023fs, XP_047295781.1:p.Lys1023del, XP_047295781.1:p.Asn1024fs, XP_047295781.1:p.Asn1024fs, XP_047295782.1:p.Lys1030fs, XP_047295782.1:p.Lys1030del, XP_047295782.1:p.Asn1031fs, XP_047295782.1:p.Asn1031fs, XP_047295785.1:p.Lys858fs, XP_047295785.1:p.Lys858del, XP_047295785.1:p.Asn859fs, XP_047295785.1:p.Asn859fs

                                  17.

                                  rs964732 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>G,T [Show Flanks]
                                    Chromosome:
                                    20:59927593 (GRCh38)
                                    20:58502648 (GRCh37)
                                    Canonical SPDI:
                                    NC_000020.11:59927592:C:G,NC_000020.11:59927592:C:T
                                    Gene:
                                    SYCP2 (Varview)
                                    Functional Consequence:
                                    genic_upstream_transcript_variant,intron_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    T=0.153924/26534 (ALFA)
                                    T=0.11808/529 (Estonian)
                                    T=0.119809/16778 (GnomAD)
                                    T=0.124682/9812 (PAGE_STUDY)
                                    T=0.12526/33155 (TOPMED)
                                    T=0.13/78 (NorthernSweden)
                                    T=0.133099/189 (HapMap)
                                    T=0.154591/774 (1000Genomes)
                                    T=0.158846/589 (TWINSUK)
                                    T=0.169175/652 (ALSPAC)
                                    T=0.170341/170 (GoNL)
                                    T=0.185304/116 (Chileans)
                                    T=0.185701/387 (HGDP_Stanford)
                                    T=0.236111/51 (Qatari)
                                    T=0.25/10 (GENOME_DK)
                                    T=0.281124/4712 (TOMMO)
                                    T=0.296587/869 (KOREAN)
                                    T=0.302402/554 (Korea1K)
                                    T=0.400943/85 (Vietnamese)
                                    T=0.411765/14 (PRJEB36033)
                                    C=0.444444/8 (Siberian)
                                    C=0.474026/73 (SGDP_PRJ)
                                    HGVS:

                                    18.

                                    rs1022654 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>A [Show Flanks]
                                      Chromosome:
                                      20:59934882 (GRCh38)
                                      20:58509937 (GRCh37)
                                      Canonical SPDI:
                                      NC_000020.11:59934881:C:A
                                      Gene:
                                      SYCP2 (Varview), FAM217B (Varview)
                                      Functional Consequence:
                                      upstream_transcript_variant,2KB_upstream_variant,genic_upstream_transcript_variant,intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      A=0.009475/235 (ALFA)
                                      A=0.014837/2080 (GnomAD)
                                      A=0.015626/4136 (TOPMED)
                                      A=0.018114/91 (1000Genomes)
                                      A=0.021341/7 (HapMap)
                                      C=0.5/2 (SGDP_PRJ)
                                      HGVS:

                                      19.

                                      rs1327467 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A [Show Flanks]
                                        Chromosome:
                                        20:59863197 (GRCh38)
                                        20:58438252 (GRCh37)
                                        Canonical SPDI:
                                        NC_000020.11:59863196:G:A
                                        Gene:
                                        SYCP2 (Varview)
                                        Functional Consequence:
                                        500B_downstream_variant,downstream_transcript_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        A=0.000142/2 (ALFA)
                                        A=0.000121/17 (GnomAD)
                                        A=0.000156/1 (1000Genomes)
                                        A=0.000174/46 (TOPMED)
                                        A=0.009259/2 (Qatari)
                                        HGVS:

                                        20.

                                        rs1327469 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>A [Show Flanks]
                                          Chromosome:
                                          20:59867946 (GRCh38)
                                          20:58443001 (GRCh37)
                                          Canonical SPDI:
                                          NC_000020.11:59867945:C:A
                                          Gene:
                                          SYCP2 (Varview)
                                          Functional Consequence:
                                          intron_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          A=0.071725/2005 (ALFA)
                                          A=0.001002/1 (GoNL)
                                          A=0.002076/8 (ALSPAC)
                                          A=0.003236/12 (TWINSUK)
                                          A=0.003348/15 (Estonian)
                                          A=0.02238/41 (Korea1K)
                                          A=0.023272/68 (KOREAN)
                                          A=0.027778/6 (Vietnamese)
                                          A=0.048093/806 (TOMMO)
                                          A=0.097222/21 (Qatari)
                                          A=0.105619/14744 (GnomAD)
                                          A=0.111734/29575 (TOPMED)
                                          A=0.130231/652 (1000Genomes)
                                          C=0.428571/24 (SGDP_PRJ)
                                          C=0.5/1 (Siberian)
                                          HGVS:

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