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Items: 1 to 20 of 198

1.

rs1484551212 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>A,G,T [Show Flanks]
    Chromosome:
    17:58695094 (GRCh38)
    17:56772455 (GRCh37)
    Canonical SPDI:
    NC_000017.11:58695093:C:A,NC_000017.11:58695093:C:G,NC_000017.11:58695093:C:T
    Gene:
    RAD51C (Varview)
    Functional Consequence:
    coding_sequence_variant,non_coding_transcript_variant,5_prime_UTR_variant,synonymous_variant,missense_variant
    Clinical significance:
    uncertain-significance
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    G=0./0 (ALFA)
    HGVS:
    NC_000017.11:g.58695094C>A, NC_000017.11:g.58695094C>G, NC_000017.11:g.58695094C>T, NC_000017.10:g.56772455C>A, NC_000017.10:g.56772455C>G, NC_000017.10:g.56772455C>T, NG_047169.1:g.1986G>T, NG_047169.1:g.1986G>C, NG_047169.1:g.1986G>A, NG_023199.1:g.7493C>A, NG_023199.1:g.7493C>G, NG_023199.1:g.7493C>T, NM_002876.4:c.309C>A, NM_002876.4:c.309C>G, NM_002876.4:c.309C>T, NM_002876.3:c.309C>A, NM_002876.3:c.309C>G, NM_002876.3:c.309C>T, NM_058216.3:c.309C>A, NM_058216.3:c.309C>G, NM_058216.3:c.309C>T, NM_058216.2:c.309C>A, NM_058216.2:c.309C>G, NM_058216.2:c.309C>T, NR_103872.2:n.351C>A, NR_103872.2:n.351C>G, NR_103872.2:n.351C>T, NR_103872.1:n.380C>A, NR_103872.1:n.380C>G, NR_103872.1:n.380C>T, NR_103873.1:n.277C>A, NR_103873.1:n.277C>G, NR_103873.1:n.277C>T, XM_006722001.5:c.309C>A, XM_006722001.5:c.309C>G, XM_006722001.5:c.309C>T, XM_006722001.4:c.309C>A, XM_006722001.4:c.309C>G, XM_006722001.4:c.309C>T, XM_006722001.3:c.309C>A, XM_006722001.3:c.309C>G, XM_006722001.3:c.309C>T, XM_006722001.2:c.309C>A, XM_006722001.2:c.309C>G, XM_006722001.2:c.309C>T, XM_006722001.1:c.309C>A, XM_006722001.1:c.309C>G, XM_006722001.1:c.309C>T, XM_006722002.5:c.309C>A, XM_006722002.5:c.309C>G, XM_006722002.5:c.309C>T, XM_006722002.4:c.309C>A, XM_006722002.4:c.309C>G, XM_006722002.4:c.309C>T, XM_006722002.3:c.309C>A, XM_006722002.3:c.309C>G, XM_006722002.3:c.309C>T, XM_006722002.2:c.309C>A, XM_006722002.2:c.309C>G, XM_006722002.2:c.309C>T, XM_006722002.1:c.309C>A, XM_006722002.1:c.309C>G, XM_006722002.1:c.309C>T, XM_006722004.4:c.-43C>A, XM_006722004.4:c.-43C>G, XM_006722004.4:c.-43C>T, XM_006722004.3:c.-43C>A, XM_006722004.3:c.-43C>G, XM_006722004.3:c.-43C>T, XM_006722004.2:c.-43C>A, XM_006722004.2:c.-43C>G, XM_006722004.2:c.-43C>T, XM_006722004.1:c.-43C>A, XM_006722004.1:c.-43C>G, XM_006722004.1:c.-43C>T, XM_011525094.3:c.-43C>A, XM_011525094.3:c.-43C>G, XM_011525094.3:c.-43C>T, XM_011525094.2:c.-43C>A, XM_011525094.2:c.-43C>G, XM_011525094.2:c.-43C>T, XM_011525094.1:c.-43C>A, XM_011525094.1:c.-43C>G, XM_011525094.1:c.-43C>T, NM_058217.1:c.309C>A, NM_058217.1:c.309C>G, NM_058217.1:c.309C>T, XM_047436505.1:c.309C>A, XM_047436505.1:c.309C>G, XM_047436505.1:c.309C>T, NP_002867.1:p.Phe103Leu, NP_002867.1:p.Phe103Leu, NP_478123.1:p.Phe103Leu, NP_478123.1:p.Phe103Leu, XP_006722064.1:p.Phe103Leu, XP_006722064.1:p.Phe103Leu, XP_006722065.1:p.Phe103Leu, XP_006722065.1:p.Phe103Leu, XP_047292461.1:p.Phe103Leu, XP_047292461.1:p.Phe103Leu

    2.

    rs1452865935 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      A>G,T [Show Flanks]
      Chromosome:
      17:58692671 (GRCh38)
      17:56770032 (GRCh37)
      Canonical SPDI:
      NC_000017.11:58692670:A:G,NC_000017.11:58692670:A:T
      Gene:
      RAD51C (Varview), TEX14 (Varview), IGBP1P2 (Varview)
      Functional Consequence:
      non_coding_transcript_variant,5_prime_UTR_variant,upstream_transcript_variant,genic_upstream_transcript_variant,missense_variant,2KB_upstream_variant,coding_sequence_variant
      Clinical significance:
      uncertain-significance
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      T=0./0 (ALFA)
      T=0.000014/2 (GnomAD)
      T=0.000015/4 (TOPMED)
      HGVS:
      NC_000017.11:g.58692671A>G, NC_000017.11:g.58692671A>T, NC_000017.10:g.56770032A>G, NC_000017.10:g.56770032A>T, NG_047169.1:g.4409T>C, NG_047169.1:g.4409T>A, NG_023199.1:g.5070A>G, NG_023199.1:g.5070A>T, NM_002876.4:c.28A>G, NM_002876.4:c.28A>T, NM_002876.3:c.28A>G, NM_002876.3:c.28A>T, NM_058216.3:c.28A>G, NM_058216.3:c.28A>T, NM_058216.2:c.28A>G, NM_058216.2:c.28A>T, NR_103872.2:n.70A>G, NR_103872.2:n.70A>T, NR_103872.1:n.99A>G, NR_103872.1:n.99A>T, NR_103873.1:n.99A>G, NR_103873.1:n.99A>T, XM_006722001.5:c.28A>G, XM_006722001.5:c.28A>T, XM_006722001.4:c.28A>G, XM_006722001.4:c.28A>T, XM_006722001.3:c.28A>G, XM_006722001.3:c.28A>T, XM_006722001.2:c.28A>G, XM_006722001.2:c.28A>T, XM_006722001.1:c.28A>G, XM_006722001.1:c.28A>T, XM_006722002.5:c.28A>G, XM_006722002.5:c.28A>T, XM_006722002.4:c.28A>G, XM_006722002.4:c.28A>T, XM_006722002.3:c.28A>G, XM_006722002.3:c.28A>T, XM_006722002.2:c.28A>G, XM_006722002.2:c.28A>T, XM_006722002.1:c.28A>G, XM_006722002.1:c.28A>T, XM_006722004.4:c.-221A>G, XM_006722004.4:c.-221A>T, XM_006722004.3:c.-221A>G, XM_006722004.3:c.-221A>T, XM_006722004.2:c.-221A>G, XM_006722004.2:c.-221A>T, XM_006722004.1:c.-221A>G, XM_006722004.1:c.-221A>T, NM_058217.1:c.28A>G, NM_058217.1:c.28A>T, XM_047436505.1:c.28A>G, XM_047436505.1:c.28A>T, NP_002867.1:p.Met10Val, NP_002867.1:p.Met10Leu, NP_478123.1:p.Met10Val, NP_478123.1:p.Met10Leu, XP_006722064.1:p.Met10Val, XP_006722064.1:p.Met10Leu, XP_006722065.1:p.Met10Val, XP_006722065.1:p.Met10Leu, XP_047292461.1:p.Met10Val, XP_047292461.1:p.Met10Leu

      3.

      rs1449359018 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A,C,T [Show Flanks]
        Chromosome:
        17:58695015 (GRCh38)
        17:56772376 (GRCh37)
        Canonical SPDI:
        NC_000017.11:58695014:G:A,NC_000017.11:58695014:G:C,NC_000017.11:58695014:G:T
        Gene:
        RAD51C (Varview)
        Functional Consequence:
        non_coding_transcript_variant,5_prime_UTR_variant,missense_variant,coding_sequence_variant
        Clinical significance:
        uncertain-significance
        Validated:
        by frequency,by cluster
        MAF:
        C=0.000004/1 (GnomAD_exomes)
        HGVS:
        NC_000017.11:g.58695015G>A, NC_000017.11:g.58695015G>C, NC_000017.11:g.58695015G>T, NC_000017.10:g.56772376G>A, NC_000017.10:g.56772376G>C, NC_000017.10:g.56772376G>T, NG_047169.1:g.2065C>T, NG_047169.1:g.2065C>G, NG_047169.1:g.2065C>A, NG_023199.1:g.7414G>A, NG_023199.1:g.7414G>C, NG_023199.1:g.7414G>T, NM_002876.4:c.230G>A, NM_002876.4:c.230G>C, NM_002876.4:c.230G>T, NM_002876.3:c.230G>A, NM_002876.3:c.230G>C, NM_002876.3:c.230G>T, NM_058216.3:c.230G>A, NM_058216.3:c.230G>C, NM_058216.3:c.230G>T, NM_058216.2:c.230G>A, NM_058216.2:c.230G>C, NM_058216.2:c.230G>T, NR_103872.2:n.272G>A, NR_103872.2:n.272G>C, NR_103872.2:n.272G>T, NR_103872.1:n.301G>A, NR_103872.1:n.301G>C, NR_103872.1:n.301G>T, NR_103873.1:n.198G>A, NR_103873.1:n.198G>C, NR_103873.1:n.198G>T, XM_006722001.5:c.230G>A, XM_006722001.5:c.230G>C, XM_006722001.5:c.230G>T, XM_006722001.4:c.230G>A, XM_006722001.4:c.230G>C, XM_006722001.4:c.230G>T, XM_006722001.3:c.230G>A, XM_006722001.3:c.230G>C, XM_006722001.3:c.230G>T, XM_006722001.2:c.230G>A, XM_006722001.2:c.230G>C, XM_006722001.2:c.230G>T, XM_006722001.1:c.230G>A, XM_006722001.1:c.230G>C, XM_006722001.1:c.230G>T, XM_006722002.5:c.230G>A, XM_006722002.5:c.230G>C, XM_006722002.5:c.230G>T, XM_006722002.4:c.230G>A, XM_006722002.4:c.230G>C, XM_006722002.4:c.230G>T, XM_006722002.3:c.230G>A, XM_006722002.3:c.230G>C, XM_006722002.3:c.230G>T, XM_006722002.2:c.230G>A, XM_006722002.2:c.230G>C, XM_006722002.2:c.230G>T, XM_006722002.1:c.230G>A, XM_006722002.1:c.230G>C, XM_006722002.1:c.230G>T, XM_006722004.4:c.-122G>A, XM_006722004.4:c.-122G>C, XM_006722004.4:c.-122G>T, XM_006722004.3:c.-122G>A, XM_006722004.3:c.-122G>C, XM_006722004.3:c.-122G>T, XM_006722004.2:c.-122G>A, XM_006722004.2:c.-122G>C, XM_006722004.2:c.-122G>T, XM_006722004.1:c.-122G>A, XM_006722004.1:c.-122G>C, XM_006722004.1:c.-122G>T, XM_011525094.3:c.-122G>A, XM_011525094.3:c.-122G>C, XM_011525094.3:c.-122G>T, XM_011525094.2:c.-122G>A, XM_011525094.2:c.-122G>C, XM_011525094.2:c.-122G>T, XM_011525094.1:c.-122G>A, XM_011525094.1:c.-122G>C, XM_011525094.1:c.-122G>T, NM_058217.1:c.230G>A, NM_058217.1:c.230G>C, NM_058217.1:c.230G>T, XM_047436505.1:c.230G>A, XM_047436505.1:c.230G>C, XM_047436505.1:c.230G>T, NP_002867.1:p.Gly77Asp, NP_002867.1:p.Gly77Ala, NP_002867.1:p.Gly77Val, NP_478123.1:p.Gly77Asp, NP_478123.1:p.Gly77Ala, NP_478123.1:p.Gly77Val, XP_006722064.1:p.Gly77Asp, XP_006722064.1:p.Gly77Ala, XP_006722064.1:p.Gly77Val, XP_006722065.1:p.Gly77Asp, XP_006722065.1:p.Gly77Ala, XP_006722065.1:p.Gly77Val, XP_047292461.1:p.Gly77Asp, XP_047292461.1:p.Gly77Ala, XP_047292461.1:p.Gly77Val

        4.

        rs1443654986 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>A,G,T [Show Flanks]
          Chromosome:
          17:58692664 (GRCh38)
          17:56770025 (GRCh37)
          Canonical SPDI:
          NC_000017.11:58692663:C:A,NC_000017.11:58692663:C:G,NC_000017.11:58692663:C:T
          Gene:
          RAD51C (Varview), TEX14 (Varview), IGBP1P2 (Varview)
          Functional Consequence:
          genic_upstream_transcript_variant,5_prime_UTR_variant,synonymous_variant,non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant
          Clinical significance:
          uncertain-significance,likely-benign
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          G=0./0 (ALFA)
          G=0.000004/1 (TOPMED)
          G=0.000007/1 (GnomAD)
          HGVS:
          NC_000017.11:g.58692664C>A, NC_000017.11:g.58692664C>G, NC_000017.11:g.58692664C>T, NC_000017.10:g.56770025C>A, NC_000017.10:g.56770025C>G, NC_000017.10:g.56770025C>T, NG_047169.1:g.4416G>T, NG_047169.1:g.4416G>C, NG_047169.1:g.4416G>A, NG_023199.1:g.5063C>A, NG_023199.1:g.5063C>G, NG_023199.1:g.5063C>T, NM_002876.4:c.21C>A, NM_002876.4:c.21C>G, NM_002876.4:c.21C>T, NM_002876.3:c.21C>A, NM_002876.3:c.21C>G, NM_002876.3:c.21C>T, NM_058216.3:c.21C>A, NM_058216.3:c.21C>G, NM_058216.3:c.21C>T, NM_058216.2:c.21C>A, NM_058216.2:c.21C>G, NM_058216.2:c.21C>T, NR_103872.2:n.63C>A, NR_103872.2:n.63C>G, NR_103872.2:n.63C>T, NR_103872.1:n.92C>A, NR_103872.1:n.92C>G, NR_103872.1:n.92C>T, NR_103873.1:n.92C>A, NR_103873.1:n.92C>G, NR_103873.1:n.92C>T, XM_006722001.5:c.21C>A, XM_006722001.5:c.21C>G, XM_006722001.5:c.21C>T, XM_006722001.4:c.21C>A, XM_006722001.4:c.21C>G, XM_006722001.4:c.21C>T, XM_006722001.3:c.21C>A, XM_006722001.3:c.21C>G, XM_006722001.3:c.21C>T, XM_006722001.2:c.21C>A, XM_006722001.2:c.21C>G, XM_006722001.2:c.21C>T, XM_006722001.1:c.21C>A, XM_006722001.1:c.21C>G, XM_006722001.1:c.21C>T, XM_006722002.5:c.21C>A, XM_006722002.5:c.21C>G, XM_006722002.5:c.21C>T, XM_006722002.4:c.21C>A, XM_006722002.4:c.21C>G, XM_006722002.4:c.21C>T, XM_006722002.3:c.21C>A, XM_006722002.3:c.21C>G, XM_006722002.3:c.21C>T, XM_006722002.2:c.21C>A, XM_006722002.2:c.21C>G, XM_006722002.2:c.21C>T, XM_006722002.1:c.21C>A, XM_006722002.1:c.21C>G, XM_006722002.1:c.21C>T, XM_006722004.4:c.-228C>A, XM_006722004.4:c.-228C>G, XM_006722004.4:c.-228C>T, XM_006722004.3:c.-228C>A, XM_006722004.3:c.-228C>G, XM_006722004.3:c.-228C>T, XM_006722004.2:c.-228C>A, XM_006722004.2:c.-228C>G, XM_006722004.2:c.-228C>T, XM_006722004.1:c.-228C>A, XM_006722004.1:c.-228C>G, XM_006722004.1:c.-228C>T, NM_058217.1:c.21C>A, NM_058217.1:c.21C>G, NM_058217.1:c.21C>T, XM_047436505.1:c.21C>A, XM_047436505.1:c.21C>G, XM_047436505.1:c.21C>T

          5.

          rs1442559963 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>A,T [Show Flanks]
            Chromosome:
            17:58692770 (GRCh38)
            17:56770131 (GRCh37)
            Canonical SPDI:
            NC_000017.11:58692769:C:A,NC_000017.11:58692769:C:T
            Gene:
            RAD51C (Varview), TEX14 (Varview), IGBP1P2 (Varview)
            Functional Consequence:
            genic_upstream_transcript_variant,non_coding_transcript_variant,missense_variant,2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant,intron_variant
            Clinical significance:
            uncertain-significance
            Validated:
            by frequency
            MAF:
            T=0.000004/1 (GnomAD_exomes)
            HGVS:
            NC_000017.11:g.58692770C>A, NC_000017.11:g.58692770C>T, NC_000017.10:g.56770131C>A, NC_000017.10:g.56770131C>T, NG_047169.1:g.4310G>T, NG_047169.1:g.4310G>A, NG_023199.1:g.5169C>A, NG_023199.1:g.5169C>T, NM_002876.4:c.127C>A, NM_002876.4:c.127C>T, NM_002876.3:c.127C>A, NM_002876.3:c.127C>T, NM_058216.3:c.127C>A, NM_058216.3:c.127C>T, NM_058216.2:c.127C>A, NM_058216.2:c.127C>T, NR_103872.2:n.169C>A, NR_103872.2:n.169C>T, NR_103872.1:n.198C>A, NR_103872.1:n.198C>T, XM_006722001.5:c.127C>A, XM_006722001.5:c.127C>T, XM_006722001.4:c.127C>A, XM_006722001.4:c.127C>T, XM_006722001.3:c.127C>A, XM_006722001.3:c.127C>T, XM_006722001.2:c.127C>A, XM_006722001.2:c.127C>T, XM_006722001.1:c.127C>A, XM_006722001.1:c.127C>T, XM_006722002.5:c.127C>A, XM_006722002.5:c.127C>T, XM_006722002.4:c.127C>A, XM_006722002.4:c.127C>T, XM_006722002.3:c.127C>A, XM_006722002.3:c.127C>T, XM_006722002.2:c.127C>A, XM_006722002.2:c.127C>T, XM_006722002.1:c.127C>A, XM_006722002.1:c.127C>T, NM_058217.1:c.127C>A, NM_058217.1:c.127C>T, XM_047436505.1:c.127C>A, XM_047436505.1:c.127C>T, NP_002867.1:p.Pro43Thr, NP_002867.1:p.Pro43Ser, NP_478123.1:p.Pro43Thr, NP_478123.1:p.Pro43Ser, XP_006722064.1:p.Pro43Thr, XP_006722064.1:p.Pro43Ser, XP_006722065.1:p.Pro43Thr, XP_006722065.1:p.Pro43Ser, XP_047292461.1:p.Pro43Thr, XP_047292461.1:p.Pro43Ser

            6.

            rs1432320770 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A,T [Show Flanks]
              Chromosome:
              17:58692746 (GRCh38)
              17:56770107 (GRCh37)
              Canonical SPDI:
              NC_000017.11:58692745:G:A,NC_000017.11:58692745:G:T
              Gene:
              RAD51C (Varview), TEX14 (Varview), IGBP1P2 (Varview)
              Functional Consequence:
              genic_upstream_transcript_variant,non_coding_transcript_variant,missense_variant,2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant,intron_variant
              Clinical significance:
              uncertain-significance
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              A=0./0 (ALFA)
              A=0./0 (GnomAD)
              A=0.000004/1 (GnomAD_exomes)
              HGVS:
              NC_000017.11:g.58692746G>A, NC_000017.11:g.58692746G>T, NC_000017.10:g.56770107G>A, NC_000017.10:g.56770107G>T, NG_047169.1:g.4334C>T, NG_047169.1:g.4334C>A, NG_023199.1:g.5145G>A, NG_023199.1:g.5145G>T, NM_002876.4:c.103G>A, NM_002876.4:c.103G>T, NM_002876.3:c.103G>A, NM_002876.3:c.103G>T, NM_058216.3:c.103G>A, NM_058216.3:c.103G>T, NM_058216.2:c.103G>A, NM_058216.2:c.103G>T, NR_103872.2:n.145G>A, NR_103872.2:n.145G>T, NR_103872.1:n.174G>A, NR_103872.1:n.174G>T, XM_006722001.5:c.103G>A, XM_006722001.5:c.103G>T, XM_006722001.4:c.103G>A, XM_006722001.4:c.103G>T, XM_006722001.3:c.103G>A, XM_006722001.3:c.103G>T, XM_006722001.2:c.103G>A, XM_006722001.2:c.103G>T, XM_006722001.1:c.103G>A, XM_006722001.1:c.103G>T, XM_006722002.5:c.103G>A, XM_006722002.5:c.103G>T, XM_006722002.4:c.103G>A, XM_006722002.4:c.103G>T, XM_006722002.3:c.103G>A, XM_006722002.3:c.103G>T, XM_006722002.2:c.103G>A, XM_006722002.2:c.103G>T, XM_006722002.1:c.103G>A, XM_006722002.1:c.103G>T, NM_058217.1:c.103G>A, NM_058217.1:c.103G>T, XM_047436505.1:c.103G>A, XM_047436505.1:c.103G>T, NP_002867.1:p.Ala35Thr, NP_002867.1:p.Ala35Ser, NP_478123.1:p.Ala35Thr, NP_478123.1:p.Ala35Ser, XP_006722064.1:p.Ala35Thr, XP_006722064.1:p.Ala35Ser, XP_006722065.1:p.Ala35Thr, XP_006722065.1:p.Ala35Ser, XP_047292461.1:p.Ala35Thr, XP_047292461.1:p.Ala35Ser

              7.

              rs1423724305 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>A,T [Show Flanks]
                Chromosome:
                17:58692779 (GRCh38)
                17:56770140 (GRCh37)
                Canonical SPDI:
                NC_000017.11:58692778:C:A,NC_000017.11:58692778:C:T
                Gene:
                RAD51C (Varview), TEX14 (Varview), IGBP1P2 (Varview)
                Functional Consequence:
                genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant,missense_variant,non_coding_transcript_variant,2KB_upstream_variant,coding_sequence_variant
                Clinical significance:
                uncertain-significance
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                T=0./0 (ALFA)
                T=0.000004/1 (TOPMED)
                T=0.000007/1 (GnomAD)
                HGVS:
                NC_000017.11:g.58692779C>A, NC_000017.11:g.58692779C>T, NC_000017.10:g.56770140C>A, NC_000017.10:g.56770140C>T, NG_047169.1:g.4301G>T, NG_047169.1:g.4301G>A, NG_023199.1:g.5178C>A, NG_023199.1:g.5178C>T, NM_002876.4:c.136C>A, NM_002876.4:c.136C>T, NM_002876.3:c.136C>A, NM_002876.3:c.136C>T, NM_058216.3:c.136C>A, NM_058216.3:c.136C>T, NM_058216.2:c.136C>A, NM_058216.2:c.136C>T, NR_103872.2:n.178C>A, NR_103872.2:n.178C>T, NR_103872.1:n.207C>A, NR_103872.1:n.207C>T, XM_006722001.5:c.136C>A, XM_006722001.5:c.136C>T, XM_006722001.4:c.136C>A, XM_006722001.4:c.136C>T, XM_006722001.3:c.136C>A, XM_006722001.3:c.136C>T, XM_006722001.2:c.136C>A, XM_006722001.2:c.136C>T, XM_006722001.1:c.136C>A, XM_006722001.1:c.136C>T, XM_006722002.5:c.136C>A, XM_006722002.5:c.136C>T, XM_006722002.4:c.136C>A, XM_006722002.4:c.136C>T, XM_006722002.3:c.136C>A, XM_006722002.3:c.136C>T, XM_006722002.2:c.136C>A, XM_006722002.2:c.136C>T, XM_006722002.1:c.136C>A, XM_006722002.1:c.136C>T, NM_058217.1:c.136C>A, NM_058217.1:c.136C>T, XM_047436505.1:c.136C>A, XM_047436505.1:c.136C>T, NP_002867.1:p.Leu46Ile, NP_002867.1:p.Leu46Phe, NP_478123.1:p.Leu46Ile, NP_478123.1:p.Leu46Phe, XP_006722064.1:p.Leu46Ile, XP_006722064.1:p.Leu46Phe, XP_006722065.1:p.Leu46Ile, XP_006722065.1:p.Leu46Phe, XP_047292461.1:p.Leu46Ile, XP_047292461.1:p.Leu46Phe

                8.

                rs1413186293 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A,C,T [Show Flanks]
                  Chromosome:
                  17:58695023 (GRCh38)
                  17:56772384 (GRCh37)
                  Canonical SPDI:
                  NC_000017.11:58695022:G:A,NC_000017.11:58695022:G:C,NC_000017.11:58695022:G:T
                  Gene:
                  RAD51C (Varview)
                  Functional Consequence:
                  stop_gained,missense_variant,non_coding_transcript_variant,5_prime_UTR_variant,coding_sequence_variant
                  Validated:
                  by frequency,by cluster
                  MAF:
                  T=0.000008/2 (GnomAD_exomes)
                  HGVS:
                  NC_000017.11:g.58695023G>A, NC_000017.11:g.58695023G>C, NC_000017.11:g.58695023G>T, NC_000017.10:g.56772384G>A, NC_000017.10:g.56772384G>C, NC_000017.10:g.56772384G>T, NG_047169.1:g.2057C>T, NG_047169.1:g.2057C>G, NG_047169.1:g.2057C>A, NG_023199.1:g.7422G>A, NG_023199.1:g.7422G>C, NG_023199.1:g.7422G>T, NM_002876.4:c.238G>A, NM_002876.4:c.238G>C, NM_002876.4:c.238G>T, NM_002876.3:c.238G>A, NM_002876.3:c.238G>C, NM_002876.3:c.238G>T, NM_058216.3:c.238G>A, NM_058216.3:c.238G>C, NM_058216.3:c.238G>T, NM_058216.2:c.238G>A, NM_058216.2:c.238G>C, NM_058216.2:c.238G>T, NR_103872.2:n.280G>A, NR_103872.2:n.280G>C, NR_103872.2:n.280G>T, NR_103872.1:n.309G>A, NR_103872.1:n.309G>C, NR_103872.1:n.309G>T, NR_103873.1:n.206G>A, NR_103873.1:n.206G>C, NR_103873.1:n.206G>T, XM_006722001.5:c.238G>A, XM_006722001.5:c.238G>C, XM_006722001.5:c.238G>T, XM_006722001.4:c.238G>A, XM_006722001.4:c.238G>C, XM_006722001.4:c.238G>T, XM_006722001.3:c.238G>A, XM_006722001.3:c.238G>C, XM_006722001.3:c.238G>T, XM_006722001.2:c.238G>A, XM_006722001.2:c.238G>C, XM_006722001.2:c.238G>T, XM_006722001.1:c.238G>A, XM_006722001.1:c.238G>C, XM_006722001.1:c.238G>T, XM_006722002.5:c.238G>A, XM_006722002.5:c.238G>C, XM_006722002.5:c.238G>T, XM_006722002.4:c.238G>A, XM_006722002.4:c.238G>C, XM_006722002.4:c.238G>T, XM_006722002.3:c.238G>A, XM_006722002.3:c.238G>C, XM_006722002.3:c.238G>T, XM_006722002.2:c.238G>A, XM_006722002.2:c.238G>C, XM_006722002.2:c.238G>T, XM_006722002.1:c.238G>A, XM_006722002.1:c.238G>C, XM_006722002.1:c.238G>T, XM_006722004.4:c.-114G>A, XM_006722004.4:c.-114G>C, XM_006722004.4:c.-114G>T, XM_006722004.3:c.-114G>A, XM_006722004.3:c.-114G>C, XM_006722004.3:c.-114G>T, XM_006722004.2:c.-114G>A, XM_006722004.2:c.-114G>C, XM_006722004.2:c.-114G>T, XM_006722004.1:c.-114G>A, XM_006722004.1:c.-114G>C, XM_006722004.1:c.-114G>T, XM_011525094.3:c.-114G>A, XM_011525094.3:c.-114G>C, XM_011525094.3:c.-114G>T, XM_011525094.2:c.-114G>A, XM_011525094.2:c.-114G>C, XM_011525094.2:c.-114G>T, XM_011525094.1:c.-114G>A, XM_011525094.1:c.-114G>C, XM_011525094.1:c.-114G>T, NM_058217.1:c.238G>A, NM_058217.1:c.238G>C, NM_058217.1:c.238G>T, XM_047436505.1:c.238G>A, XM_047436505.1:c.238G>C, XM_047436505.1:c.238G>T, NP_002867.1:p.Glu80Lys, NP_002867.1:p.Glu80Gln, NP_002867.1:p.Glu80Ter, NP_478123.1:p.Glu80Lys, NP_478123.1:p.Glu80Gln, NP_478123.1:p.Glu80Ter, XP_006722064.1:p.Glu80Lys, XP_006722064.1:p.Glu80Gln, XP_006722064.1:p.Glu80Ter, XP_006722065.1:p.Glu80Lys, XP_006722065.1:p.Glu80Gln, XP_006722065.1:p.Glu80Ter, XP_047292461.1:p.Glu80Lys, XP_047292461.1:p.Glu80Gln, XP_047292461.1:p.Glu80Ter

                  9.

                  rs1413139699 has merged into rs786203945 [Homo sapiens]
                    Variant type:
                    DELINS
                    Alleles:
                    CT>- [Show Flanks]
                    Chromosome:
                    17:58694966 (GRCh38)
                    17:56772327 (GRCh37)
                    Canonical SPDI:
                    NC_000017.11:58694963:CTCT:CT
                    Gene:
                    RAD51C (Varview)
                    Functional Consequence:
                    5_prime_UTR_variant,non_coding_transcript_variant,frameshift_variant,coding_sequence_variant
                    Clinical significance:
                    pathogenic
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    CTCT=0.000094/1 (ALFA)
                    -=0.000004/1 (TOPMED)
                    -=0.000012/3 (GnomAD_exomes)
                    -=0.000033/4 (ExAC)
                    -=0.000035/1 (TOMMO)
                    HGVS:
                    NC_000017.11:g.58694964CT[1], NC_000017.10:g.56772325CT[1], NG_047169.1:g.2113AG[1], NG_023199.1:g.7363CT[1], NM_002876.4:c.181_182del, NM_002876.3:c.181_182del, NM_058216.3:c.181_182del, NM_058216.2:c.181_182del, NR_103872.2:n.221CT[1], NR_103872.1:n.250CT[1], NR_103873.1:n.147CT[1], XM_006722001.5:c.181_182del, XM_006722001.4:c.181_182del, XM_006722001.3:c.181_182del, XM_006722001.2:c.181_182del, XM_006722001.1:c.181_182del, XM_006722002.5:c.181_182del, XM_006722002.4:c.181_182del, XM_006722002.3:c.181_182del, XM_006722002.2:c.181_182del, XM_006722002.1:c.181_182del, XM_006722004.4:c.-173CT[1], XM_006722004.3:c.-173CT[1], XM_006722004.2:c.-173CT[1], XM_006722004.1:c.-173CT[1], XM_011525094.3:c.-173CT[1], XM_011525094.2:c.-173CT[1], XM_011525094.1:c.-173CT[1], NM_058217.1:c.181_182del, XM_047436505.1:c.181_182del, NP_002867.1:p.Leu61fs, NP_478123.1:p.Leu61fs, XP_006722064.1:p.Leu61fs, XP_006722065.1:p.Leu61fs, XP_047292461.1:p.Leu61fs

                    10.

                    rs1411454855 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>C,G [Show Flanks]
                      Chromosome:
                      17:58692693 (GRCh38)
                      17:56770054 (GRCh37)
                      Canonical SPDI:
                      NC_000017.11:58692692:T:C,NC_000017.11:58692692:T:G
                      Gene:
                      RAD51C (Varview), TEX14 (Varview), IGBP1P2 (Varview)
                      Functional Consequence:
                      genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant,missense_variant,non_coding_transcript_variant,2KB_upstream_variant,coding_sequence_variant
                      Clinical significance:
                      uncertain-significance
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      C=0./0 (ALFA)
                      C=0.00003/8 (TOPMED)
                      HGVS:
                      NC_000017.11:g.58692693T>C, NC_000017.11:g.58692693T>G, NC_000017.10:g.56770054T>C, NC_000017.10:g.56770054T>G, NG_047169.1:g.4387A>G, NG_047169.1:g.4387A>C, NG_023199.1:g.5092T>C, NG_023199.1:g.5092T>G, NM_002876.4:c.50T>C, NM_002876.4:c.50T>G, NM_002876.3:c.50T>C, NM_002876.3:c.50T>G, NM_058216.3:c.50T>C, NM_058216.3:c.50T>G, NM_058216.2:c.50T>C, NM_058216.2:c.50T>G, NR_103872.2:n.92T>C, NR_103872.2:n.92T>G, NR_103872.1:n.121T>C, NR_103872.1:n.121T>G, XM_006722001.5:c.50T>C, XM_006722001.5:c.50T>G, XM_006722001.4:c.50T>C, XM_006722001.4:c.50T>G, XM_006722001.3:c.50T>C, XM_006722001.3:c.50T>G, XM_006722001.2:c.50T>C, XM_006722001.2:c.50T>G, XM_006722001.1:c.50T>C, XM_006722001.1:c.50T>G, XM_006722002.5:c.50T>C, XM_006722002.5:c.50T>G, XM_006722002.4:c.50T>C, XM_006722002.4:c.50T>G, XM_006722002.3:c.50T>C, XM_006722002.3:c.50T>G, XM_006722002.2:c.50T>C, XM_006722002.2:c.50T>G, XM_006722002.1:c.50T>C, XM_006722002.1:c.50T>G, NM_058217.1:c.50T>C, NM_058217.1:c.50T>G, XM_047436505.1:c.50T>C, XM_047436505.1:c.50T>G, NP_002867.1:p.Phe17Ser, NP_002867.1:p.Phe17Cys, NP_478123.1:p.Phe17Ser, NP_478123.1:p.Phe17Cys, XP_006722064.1:p.Phe17Ser, XP_006722064.1:p.Phe17Cys, XP_006722065.1:p.Phe17Ser, XP_006722065.1:p.Phe17Cys, XP_047292461.1:p.Phe17Ser, XP_047292461.1:p.Phe17Cys

                      11.

                      rs1402638488 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>G,T [Show Flanks]
                        Chromosome:
                        17:58695116 (GRCh38)
                        17:56772477 (GRCh37)
                        Canonical SPDI:
                        NC_000017.11:58695115:C:G,NC_000017.11:58695115:C:T
                        Gene:
                        RAD51C (Varview)
                        Functional Consequence:
                        coding_sequence_variant,non_coding_transcript_variant,missense_variant,5_prime_UTR_variant
                        Clinical significance:
                        uncertain-significance
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        T=0./0 (ALFA)
                        T=0.000012/3 (GnomAD_exomes)
                        T=0.000019/5 (TOPMED)
                        T=0.00005/7 (GnomAD)
                        HGVS:
                        NC_000017.11:g.58695116C>G, NC_000017.11:g.58695116C>T, NC_000017.10:g.56772477C>G, NC_000017.10:g.56772477C>T, NG_047169.1:g.1964G>C, NG_047169.1:g.1964G>A, NG_023199.1:g.7515C>G, NG_023199.1:g.7515C>T, NM_002876.4:c.331C>G, NM_002876.4:c.331C>T, NM_002876.3:c.331C>G, NM_002876.3:c.331C>T, NM_058216.3:c.331C>G, NM_058216.3:c.331C>T, NM_058216.2:c.331C>G, NM_058216.2:c.331C>T, NR_103872.2:n.373C>G, NR_103872.2:n.373C>T, NR_103872.1:n.402C>G, NR_103872.1:n.402C>T, NR_103873.1:n.299C>G, NR_103873.1:n.299C>T, XM_006722001.5:c.331C>G, XM_006722001.5:c.331C>T, XM_006722001.4:c.331C>G, XM_006722001.4:c.331C>T, XM_006722001.3:c.331C>G, XM_006722001.3:c.331C>T, XM_006722001.2:c.331C>G, XM_006722001.2:c.331C>T, XM_006722001.1:c.331C>G, XM_006722001.1:c.331C>T, XM_006722002.5:c.331C>G, XM_006722002.5:c.331C>T, XM_006722002.4:c.331C>G, XM_006722002.4:c.331C>T, XM_006722002.3:c.331C>G, XM_006722002.3:c.331C>T, XM_006722002.2:c.331C>G, XM_006722002.2:c.331C>T, XM_006722002.1:c.331C>G, XM_006722002.1:c.331C>T, XM_006722004.4:c.-21C>G, XM_006722004.4:c.-21C>T, XM_006722004.3:c.-21C>G, XM_006722004.3:c.-21C>T, XM_006722004.2:c.-21C>G, XM_006722004.2:c.-21C>T, XM_006722004.1:c.-21C>G, XM_006722004.1:c.-21C>T, XM_011525094.3:c.-21C>G, XM_011525094.3:c.-21C>T, XM_011525094.2:c.-21C>G, XM_011525094.2:c.-21C>T, XM_011525094.1:c.-21C>G, XM_011525094.1:c.-21C>T, NM_058217.1:c.331C>G, NM_058217.1:c.331C>T, XM_047436505.1:c.331C>G, XM_047436505.1:c.331C>T, NP_002867.1:p.Leu111Val, NP_002867.1:p.Leu111Phe, NP_478123.1:p.Leu111Val, NP_478123.1:p.Leu111Phe, XP_006722064.1:p.Leu111Val, XP_006722064.1:p.Leu111Phe, XP_006722065.1:p.Leu111Val, XP_006722065.1:p.Leu111Phe, XP_047292461.1:p.Leu111Val, XP_047292461.1:p.Leu111Phe

                        12.

                        rs1386696811 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A,C [Show Flanks]
                          Chromosome:
                          17:58692710 (GRCh38)
                          17:56770071 (GRCh37)
                          Canonical SPDI:
                          NC_000017.11:58692709:G:A,NC_000017.11:58692709:G:C
                          Gene:
                          RAD51C (Varview), TEX14 (Varview), IGBP1P2 (Varview)
                          Functional Consequence:
                          genic_upstream_transcript_variant,non_coding_transcript_variant,missense_variant,upstream_transcript_variant,intron_variant,2KB_upstream_variant,coding_sequence_variant
                          Clinical significance:
                          uncertain-significance
                          Validated:
                          by frequency,by cluster
                          MAF:
                          A=0.000004/1 (GnomAD_exomes)
                          HGVS:
                          NC_000017.11:g.58692710G>A, NC_000017.11:g.58692710G>C, NC_000017.10:g.56770071G>A, NC_000017.10:g.56770071G>C, NG_047169.1:g.4370C>T, NG_047169.1:g.4370C>G, NG_023199.1:g.5109G>A, NG_023199.1:g.5109G>C, NM_002876.4:c.67G>A, NM_002876.4:c.67G>C, NM_002876.3:c.67G>A, NM_002876.3:c.67G>C, NM_058216.3:c.67G>A, NM_058216.3:c.67G>C, NM_058216.2:c.67G>A, NM_058216.2:c.67G>C, NR_103872.2:n.109G>A, NR_103872.2:n.109G>C, NR_103872.1:n.138G>A, NR_103872.1:n.138G>C, XM_006722001.5:c.67G>A, XM_006722001.5:c.67G>C, XM_006722001.4:c.67G>A, XM_006722001.4:c.67G>C, XM_006722001.3:c.67G>A, XM_006722001.3:c.67G>C, XM_006722001.2:c.67G>A, XM_006722001.2:c.67G>C, XM_006722001.1:c.67G>A, XM_006722001.1:c.67G>C, XM_006722002.5:c.67G>A, XM_006722002.5:c.67G>C, XM_006722002.4:c.67G>A, XM_006722002.4:c.67G>C, XM_006722002.3:c.67G>A, XM_006722002.3:c.67G>C, XM_006722002.2:c.67G>A, XM_006722002.2:c.67G>C, XM_006722002.1:c.67G>A, XM_006722002.1:c.67G>C, NM_058217.1:c.67G>A, NM_058217.1:c.67G>C, XM_047436505.1:c.67G>A, XM_047436505.1:c.67G>C, NP_002867.1:p.Val23Met, NP_002867.1:p.Val23Leu, NP_478123.1:p.Val23Met, NP_478123.1:p.Val23Leu, XP_006722064.1:p.Val23Met, XP_006722064.1:p.Val23Leu, XP_006722065.1:p.Val23Met, XP_006722065.1:p.Val23Leu, XP_047292461.1:p.Val23Met, XP_047292461.1:p.Val23Leu

                          13.

                          rs1372016419 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>G,T [Show Flanks]
                            Chromosome:
                            17:58695036 (GRCh38)
                            17:56772397 (GRCh37)
                            Canonical SPDI:
                            NC_000017.11:58695035:A:G,NC_000017.11:58695035:A:T
                            Gene:
                            RAD51C (Varview)
                            Functional Consequence:
                            missense_variant,5_prime_UTR_variant,non_coding_transcript_variant,coding_sequence_variant
                            Clinical significance:
                            uncertain-significance
                            Validated:
                            by frequency,by alfa
                            MAF:
                            T=0./0 (ALFA)
                            HGVS:
                            NC_000017.11:g.58695036A>G, NC_000017.11:g.58695036A>T, NC_000017.10:g.56772397A>G, NC_000017.10:g.56772397A>T, NG_047169.1:g.2044T>C, NG_047169.1:g.2044T>A, NG_023199.1:g.7435A>G, NG_023199.1:g.7435A>T, NM_002876.4:c.251A>G, NM_002876.4:c.251A>T, NM_002876.3:c.251A>G, NM_002876.3:c.251A>T, NM_058216.3:c.251A>G, NM_058216.3:c.251A>T, NM_058216.2:c.251A>G, NM_058216.2:c.251A>T, NR_103872.2:n.293A>G, NR_103872.2:n.293A>T, NR_103872.1:n.322A>G, NR_103872.1:n.322A>T, NR_103873.1:n.219A>G, NR_103873.1:n.219A>T, XM_006722001.5:c.251A>G, XM_006722001.5:c.251A>T, XM_006722001.4:c.251A>G, XM_006722001.4:c.251A>T, XM_006722001.3:c.251A>G, XM_006722001.3:c.251A>T, XM_006722001.2:c.251A>G, XM_006722001.2:c.251A>T, XM_006722001.1:c.251A>G, XM_006722001.1:c.251A>T, XM_006722002.5:c.251A>G, XM_006722002.5:c.251A>T, XM_006722002.4:c.251A>G, XM_006722002.4:c.251A>T, XM_006722002.3:c.251A>G, XM_006722002.3:c.251A>T, XM_006722002.2:c.251A>G, XM_006722002.2:c.251A>T, XM_006722002.1:c.251A>G, XM_006722002.1:c.251A>T, XM_006722004.4:c.-101A>G, XM_006722004.4:c.-101A>T, XM_006722004.3:c.-101A>G, XM_006722004.3:c.-101A>T, XM_006722004.2:c.-101A>G, XM_006722004.2:c.-101A>T, XM_006722004.1:c.-101A>G, XM_006722004.1:c.-101A>T, XM_011525094.3:c.-101A>G, XM_011525094.3:c.-101A>T, XM_011525094.2:c.-101A>G, XM_011525094.2:c.-101A>T, XM_011525094.1:c.-101A>G, XM_011525094.1:c.-101A>T, NM_058217.1:c.251A>G, NM_058217.1:c.251A>T, XM_047436505.1:c.251A>G, XM_047436505.1:c.251A>T, NP_002867.1:p.Lys84Arg, NP_002867.1:p.Lys84Met, NP_478123.1:p.Lys84Arg, NP_478123.1:p.Lys84Met, XP_006722064.1:p.Lys84Arg, XP_006722064.1:p.Lys84Met, XP_006722065.1:p.Lys84Arg, XP_006722065.1:p.Lys84Met, XP_047292461.1:p.Lys84Arg, XP_047292461.1:p.Lys84Met

                            14.

                            rs1367536740 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>A,C,G [Show Flanks]
                              Chromosome:
                              17:58692773 (GRCh38)
                              17:56770134 (GRCh37)
                              Canonical SPDI:
                              NC_000017.11:58692772:T:A,NC_000017.11:58692772:T:C,NC_000017.11:58692772:T:G
                              Gene:
                              RAD51C (Varview), TEX14 (Varview), IGBP1P2 (Varview)
                              Functional Consequence:
                              coding_sequence_variant,upstream_transcript_variant,missense_variant,2KB_upstream_variant,genic_upstream_transcript_variant,intron_variant,non_coding_transcript_variant
                              Validated:
                              by frequency,by cluster
                              MAF:
                              G=0.000004/1 (GnomAD_exomes)
                              HGVS:
                              NC_000017.11:g.58692773T>A, NC_000017.11:g.58692773T>C, NC_000017.11:g.58692773T>G, NC_000017.10:g.56770134T>A, NC_000017.10:g.56770134T>C, NC_000017.10:g.56770134T>G, NG_047169.1:g.4307A>T, NG_047169.1:g.4307A>G, NG_047169.1:g.4307A>C, NG_023199.1:g.5172T>A, NG_023199.1:g.5172T>C, NG_023199.1:g.5172T>G, NM_002876.4:c.130T>A, NM_002876.4:c.130T>C, NM_002876.4:c.130T>G, NM_002876.3:c.130T>A, NM_002876.3:c.130T>C, NM_002876.3:c.130T>G, NM_058216.3:c.130T>A, NM_058216.3:c.130T>C, NM_058216.3:c.130T>G, NM_058216.2:c.130T>A, NM_058216.2:c.130T>C, NM_058216.2:c.130T>G, NR_103872.2:n.172T>A, NR_103872.2:n.172T>C, NR_103872.2:n.172T>G, NR_103872.1:n.201T>A, NR_103872.1:n.201T>C, NR_103872.1:n.201T>G, XM_006722001.5:c.130T>A, XM_006722001.5:c.130T>C, XM_006722001.5:c.130T>G, XM_006722001.4:c.130T>A, XM_006722001.4:c.130T>C, XM_006722001.4:c.130T>G, XM_006722001.3:c.130T>A, XM_006722001.3:c.130T>C, XM_006722001.3:c.130T>G, XM_006722001.2:c.130T>A, XM_006722001.2:c.130T>C, XM_006722001.2:c.130T>G, XM_006722001.1:c.130T>A, XM_006722001.1:c.130T>C, XM_006722001.1:c.130T>G, XM_006722002.5:c.130T>A, XM_006722002.5:c.130T>C, XM_006722002.5:c.130T>G, XM_006722002.4:c.130T>A, XM_006722002.4:c.130T>C, XM_006722002.4:c.130T>G, XM_006722002.3:c.130T>A, XM_006722002.3:c.130T>C, XM_006722002.3:c.130T>G, XM_006722002.2:c.130T>A, XM_006722002.2:c.130T>C, XM_006722002.2:c.130T>G, XM_006722002.1:c.130T>A, XM_006722002.1:c.130T>C, XM_006722002.1:c.130T>G, NM_058217.1:c.130T>A, NM_058217.1:c.130T>C, NM_058217.1:c.130T>G, XM_047436505.1:c.130T>A, XM_047436505.1:c.130T>C, XM_047436505.1:c.130T>G, NP_002867.1:p.Ser44Thr, NP_002867.1:p.Ser44Pro, NP_002867.1:p.Ser44Ala, NP_478123.1:p.Ser44Thr, NP_478123.1:p.Ser44Pro, NP_478123.1:p.Ser44Ala, XP_006722064.1:p.Ser44Thr, XP_006722064.1:p.Ser44Pro, XP_006722064.1:p.Ser44Ala, XP_006722065.1:p.Ser44Thr, XP_006722065.1:p.Ser44Pro, XP_006722065.1:p.Ser44Ala, XP_047292461.1:p.Ser44Thr, XP_047292461.1:p.Ser44Pro, XP_047292461.1:p.Ser44Ala

                              15.

                              rs1365140814 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>C,G,T [Show Flanks]
                                Chromosome:
                                17:58692754 (GRCh38)
                                17:56770115 (GRCh37)
                                Canonical SPDI:
                                NC_000017.11:58692753:A:C,NC_000017.11:58692753:A:G,NC_000017.11:58692753:A:T
                                Gene:
                                RAD51C (Varview), TEX14 (Varview), IGBP1P2 (Varview)
                                Functional Consequence:
                                coding_sequence_variant,upstream_transcript_variant,missense_variant,2KB_upstream_variant,genic_upstream_transcript_variant,intron_variant,non_coding_transcript_variant,synonymous_variant
                                Clinical significance:
                                likely-benign
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                G=0.000047/1 (ALFA)
                                G=0.000004/1 (GnomAD_exomes)
                                HGVS:
                                NC_000017.11:g.58692754A>C, NC_000017.11:g.58692754A>G, NC_000017.11:g.58692754A>T, NC_000017.10:g.56770115A>C, NC_000017.10:g.56770115A>G, NC_000017.10:g.56770115A>T, NG_047169.1:g.4326T>G, NG_047169.1:g.4326T>C, NG_047169.1:g.4326T>A, NG_023199.1:g.5153A>C, NG_023199.1:g.5153A>G, NG_023199.1:g.5153A>T, NM_002876.4:c.111A>C, NM_002876.4:c.111A>G, NM_002876.4:c.111A>T, NM_002876.3:c.111A>C, NM_002876.3:c.111A>G, NM_002876.3:c.111A>T, NM_058216.3:c.111A>C, NM_058216.3:c.111A>G, NM_058216.3:c.111A>T, NM_058216.2:c.111A>C, NM_058216.2:c.111A>G, NM_058216.2:c.111A>T, NR_103872.2:n.153A>C, NR_103872.2:n.153A>G, NR_103872.2:n.153A>T, NR_103872.1:n.182A>C, NR_103872.1:n.182A>G, NR_103872.1:n.182A>T, XM_006722001.5:c.111A>C, XM_006722001.5:c.111A>G, XM_006722001.5:c.111A>T, XM_006722001.4:c.111A>C, XM_006722001.4:c.111A>G, XM_006722001.4:c.111A>T, XM_006722001.3:c.111A>C, XM_006722001.3:c.111A>G, XM_006722001.3:c.111A>T, XM_006722001.2:c.111A>C, XM_006722001.2:c.111A>G, XM_006722001.2:c.111A>T, XM_006722001.1:c.111A>C, XM_006722001.1:c.111A>G, XM_006722001.1:c.111A>T, XM_006722002.5:c.111A>C, XM_006722002.5:c.111A>G, XM_006722002.5:c.111A>T, XM_006722002.4:c.111A>C, XM_006722002.4:c.111A>G, XM_006722002.4:c.111A>T, XM_006722002.3:c.111A>C, XM_006722002.3:c.111A>G, XM_006722002.3:c.111A>T, XM_006722002.2:c.111A>C, XM_006722002.2:c.111A>G, XM_006722002.2:c.111A>T, XM_006722002.1:c.111A>C, XM_006722002.1:c.111A>G, XM_006722002.1:c.111A>T, NM_058217.1:c.111A>C, NM_058217.1:c.111A>G, NM_058217.1:c.111A>T, XM_047436505.1:c.111A>C, XM_047436505.1:c.111A>G, XM_047436505.1:c.111A>T, NP_002867.1:p.Glu37Asp, NP_002867.1:p.Glu37Asp, NP_478123.1:p.Glu37Asp, NP_478123.1:p.Glu37Asp, XP_006722064.1:p.Glu37Asp, XP_006722064.1:p.Glu37Asp, XP_006722065.1:p.Glu37Asp, XP_006722065.1:p.Glu37Asp, XP_047292461.1:p.Glu37Asp, XP_047292461.1:p.Glu37Asp

                                16.

                                rs1362744420 has merged into rs587782170 [Homo sapiens]
                                  Variant type:
                                  DELINS
                                  Alleles:
                                  AA>- [Show Flanks]
                                  Chromosome:
                                  17:58694971 (GRCh38)
                                  17:56772332 (GRCh37)
                                  Canonical SPDI:
                                  NC_000017.11:58694969:AAA:A
                                  Gene:
                                  RAD51C (Varview)
                                  Functional Consequence:
                                  5_prime_UTR_variant,coding_sequence_variant,frameshift_variant,non_coding_transcript_variant
                                  Clinical significance:
                                  pathogenic
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  A=0./0 (ALFA)
                                  -=0.000004/1 (GnomAD_exomes)
                                  -=0.000008/1 (ExAC)
                                  -=0.000008/2 (TOPMED)
                                  -=0.000014/2 (GnomAD)
                                  -=0.000156/1 (1000Genomes)
                                  HGVS:
                                  NC_000017.11:g.58694971_58694972del, NC_000017.10:g.56772332_56772333del, NG_047169.1:g.2109_2110del, NG_023199.1:g.7370_7371del, NM_002876.4:c.186_187del, NM_002876.3:c.186_187del, NM_058216.3:c.186_187del, NM_058216.2:c.186_187del, NR_103872.2:n.228_229del, NR_103872.1:n.257_258del, NR_103873.1:n.154_155del, XM_006722001.5:c.186_187del, XM_006722001.4:c.186_187del, XM_006722001.3:c.186_187del, XM_006722001.2:c.186_187del, XM_006722001.1:c.186_187del, XM_006722002.5:c.186_187del, XM_006722002.4:c.186_187del, XM_006722002.3:c.186_187del, XM_006722002.2:c.186_187del, XM_006722002.1:c.186_187del, XM_006722004.4:c.-166_-165del, XM_006722004.3:c.-166_-165del, XM_006722004.2:c.-166_-165del, XM_006722004.1:c.-166_-165del, XM_011525094.3:c.-166_-165del, XM_011525094.2:c.-166_-165del, XM_011525094.1:c.-166_-165del, NM_058217.1:c.186_187del, XM_047436505.1:c.186_187del, NP_002867.1:p.Gln62fs, NP_478123.1:p.Gln62fs, XP_006722064.1:p.Gln62fs, XP_006722065.1:p.Gln62fs, XP_047292461.1:p.Gln62fs

                                  17.

                                  rs1349262257 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>A,G [Show Flanks]
                                    Chromosome:
                                    17:58692665 (GRCh38)
                                    17:56770026 (GRCh37)
                                    Canonical SPDI:
                                    NC_000017.11:58692664:T:A,NC_000017.11:58692664:T:G
                                    Gene:
                                    RAD51C (Varview), TEX14 (Varview), IGBP1P2 (Varview)
                                    Functional Consequence:
                                    missense_variant,coding_sequence_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,5_prime_UTR_variant
                                    Validated:
                                    by frequency,by cluster
                                    MAF:
                                    A=0.000004/1 (GnomAD_exomes)
                                    HGVS:
                                    NC_000017.11:g.58692665T>A, NC_000017.11:g.58692665T>G, NC_000017.10:g.56770026T>A, NC_000017.10:g.56770026T>G, NG_047169.1:g.4415A>T, NG_047169.1:g.4415A>C, NG_023199.1:g.5064T>A, NG_023199.1:g.5064T>G, NM_002876.4:c.22T>A, NM_002876.4:c.22T>G, NM_002876.3:c.22T>A, NM_002876.3:c.22T>G, NM_058216.3:c.22T>A, NM_058216.3:c.22T>G, NM_058216.2:c.22T>A, NM_058216.2:c.22T>G, NR_103872.2:n.64T>A, NR_103872.2:n.64T>G, NR_103872.1:n.93T>A, NR_103872.1:n.93T>G, NR_103873.1:n.93T>A, NR_103873.1:n.93T>G, XM_006722001.5:c.22T>A, XM_006722001.5:c.22T>G, XM_006722001.4:c.22T>A, XM_006722001.4:c.22T>G, XM_006722001.3:c.22T>A, XM_006722001.3:c.22T>G, XM_006722001.2:c.22T>A, XM_006722001.2:c.22T>G, XM_006722001.1:c.22T>A, XM_006722001.1:c.22T>G, XM_006722002.5:c.22T>A, XM_006722002.5:c.22T>G, XM_006722002.4:c.22T>A, XM_006722002.4:c.22T>G, XM_006722002.3:c.22T>A, XM_006722002.3:c.22T>G, XM_006722002.2:c.22T>A, XM_006722002.2:c.22T>G, XM_006722002.1:c.22T>A, XM_006722002.1:c.22T>G, XM_006722004.4:c.-227T>A, XM_006722004.4:c.-227T>G, XM_006722004.3:c.-227T>A, XM_006722004.3:c.-227T>G, XM_006722004.2:c.-227T>A, XM_006722004.2:c.-227T>G, XM_006722004.1:c.-227T>A, XM_006722004.1:c.-227T>G, NM_058217.1:c.22T>A, NM_058217.1:c.22T>G, XM_047436505.1:c.22T>A, XM_047436505.1:c.22T>G, NP_002867.1:p.Phe8Ile, NP_002867.1:p.Phe8Val, NP_478123.1:p.Phe8Ile, NP_478123.1:p.Phe8Val, XP_006722064.1:p.Phe8Ile, XP_006722064.1:p.Phe8Val, XP_006722065.1:p.Phe8Ile, XP_006722065.1:p.Phe8Val, XP_047292461.1:p.Phe8Ile, XP_047292461.1:p.Phe8Val

                                    18.

                                    rs1334508786 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>G,T [Show Flanks]
                                      Chromosome:
                                      17:58692649 (GRCh38)
                                      17:56770010 (GRCh37)
                                      Canonical SPDI:
                                      NC_000017.11:58692648:C:G,NC_000017.11:58692648:C:T
                                      Gene:
                                      RAD51C (Varview), TEX14 (Varview), IGBP1P2 (Varview)
                                      Functional Consequence:
                                      2KB_upstream_variant,genic_upstream_transcript_variant,synonymous_variant,coding_sequence_variant,upstream_transcript_variant,non_coding_transcript_variant,5_prime_UTR_variant
                                      Clinical significance:
                                      likely-benign
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      T=0./0 (ALFA)
                                      G=0.000004/1 (TOPMED)
                                      T=0.000007/1 (GnomAD)
                                      HGVS:
                                      NC_000017.11:g.58692649C>G, NC_000017.11:g.58692649C>T, NC_000017.10:g.56770010C>G, NC_000017.10:g.56770010C>T, NG_047169.1:g.4431G>C, NG_047169.1:g.4431G>A, NG_023199.1:g.5048C>G, NG_023199.1:g.5048C>T, NM_002876.4:c.6C>G, NM_002876.4:c.6C>T, NM_002876.3:c.6C>G, NM_002876.3:c.6C>T, NM_058216.3:c.6C>G, NM_058216.3:c.6C>T, NM_058216.2:c.6C>G, NM_058216.2:c.6C>T, NR_103872.2:n.48C>G, NR_103872.2:n.48C>T, NR_103872.1:n.77C>G, NR_103872.1:n.77C>T, NR_103873.1:n.77C>G, NR_103873.1:n.77C>T, XM_006722001.5:c.6C>G, XM_006722001.5:c.6C>T, XM_006722001.4:c.6C>G, XM_006722001.4:c.6C>T, XM_006722001.3:c.6C>G, XM_006722001.3:c.6C>T, XM_006722001.2:c.6C>G, XM_006722001.2:c.6C>T, XM_006722001.1:c.6C>G, XM_006722001.1:c.6C>T, XM_006722002.5:c.6C>G, XM_006722002.5:c.6C>T, XM_006722002.4:c.6C>G, XM_006722002.4:c.6C>T, XM_006722002.3:c.6C>G, XM_006722002.3:c.6C>T, XM_006722002.2:c.6C>G, XM_006722002.2:c.6C>T, XM_006722002.1:c.6C>G, XM_006722002.1:c.6C>T, XM_006722004.4:c.-243C>G, XM_006722004.4:c.-243C>T, XM_006722004.3:c.-243C>G, XM_006722004.3:c.-243C>T, XM_006722004.2:c.-243C>G, XM_006722004.2:c.-243C>T, XM_006722004.1:c.-243C>G, XM_006722004.1:c.-243C>T, NM_058217.1:c.6C>G, NM_058217.1:c.6C>T, XM_047436505.1:c.6C>G, XM_047436505.1:c.6C>T

                                      19.

                                      rs1333679774 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>C,G,T [Show Flanks]
                                        Chromosome:
                                        17:58695033 (GRCh38)
                                        17:56772394 (GRCh37)
                                        Canonical SPDI:
                                        NC_000017.11:58695032:A:C,NC_000017.11:58695032:A:G,NC_000017.11:58695032:A:T
                                        Gene:
                                        RAD51C (Varview)
                                        Functional Consequence:
                                        missense_variant,coding_sequence_variant,non_coding_transcript_variant,5_prime_UTR_variant
                                        Clinical significance:
                                        uncertain-significance
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        G=0.000051/1 (ALFA)
                                        G=0.000007/1 (GnomAD)
                                        HGVS:
                                        NC_000017.11:g.58695033A>C, NC_000017.11:g.58695033A>G, NC_000017.11:g.58695033A>T, NC_000017.10:g.56772394A>C, NC_000017.10:g.56772394A>G, NC_000017.10:g.56772394A>T, NG_047169.1:g.2047T>G, NG_047169.1:g.2047T>C, NG_047169.1:g.2047T>A, NG_023199.1:g.7432A>C, NG_023199.1:g.7432A>G, NG_023199.1:g.7432A>T, NM_002876.4:c.248A>C, NM_002876.4:c.248A>G, NM_002876.4:c.248A>T, NM_002876.3:c.248A>C, NM_002876.3:c.248A>G, NM_002876.3:c.248A>T, NM_058216.3:c.248A>C, NM_058216.3:c.248A>G, NM_058216.3:c.248A>T, NM_058216.2:c.248A>C, NM_058216.2:c.248A>G, NM_058216.2:c.248A>T, NR_103872.2:n.290A>C, NR_103872.2:n.290A>G, NR_103872.2:n.290A>T, NR_103872.1:n.319A>C, NR_103872.1:n.319A>G, NR_103872.1:n.319A>T, NR_103873.1:n.216A>C, NR_103873.1:n.216A>G, NR_103873.1:n.216A>T, XM_006722001.5:c.248A>C, XM_006722001.5:c.248A>G, XM_006722001.5:c.248A>T, XM_006722001.4:c.248A>C, XM_006722001.4:c.248A>G, XM_006722001.4:c.248A>T, XM_006722001.3:c.248A>C, XM_006722001.3:c.248A>G, XM_006722001.3:c.248A>T, XM_006722001.2:c.248A>C, XM_006722001.2:c.248A>G, XM_006722001.2:c.248A>T, XM_006722001.1:c.248A>C, XM_006722001.1:c.248A>G, XM_006722001.1:c.248A>T, XM_006722002.5:c.248A>C, XM_006722002.5:c.248A>G, XM_006722002.5:c.248A>T, XM_006722002.4:c.248A>C, XM_006722002.4:c.248A>G, XM_006722002.4:c.248A>T, XM_006722002.3:c.248A>C, XM_006722002.3:c.248A>G, XM_006722002.3:c.248A>T, XM_006722002.2:c.248A>C, XM_006722002.2:c.248A>G, XM_006722002.2:c.248A>T, XM_006722002.1:c.248A>C, XM_006722002.1:c.248A>G, XM_006722002.1:c.248A>T, XM_006722004.4:c.-104A>C, XM_006722004.4:c.-104A>G, XM_006722004.4:c.-104A>T, XM_006722004.3:c.-104A>C, XM_006722004.3:c.-104A>G, XM_006722004.3:c.-104A>T, XM_006722004.2:c.-104A>C, XM_006722004.2:c.-104A>G, XM_006722004.2:c.-104A>T, XM_006722004.1:c.-104A>C, XM_006722004.1:c.-104A>G, XM_006722004.1:c.-104A>T, XM_011525094.3:c.-104A>C, XM_011525094.3:c.-104A>G, XM_011525094.3:c.-104A>T, XM_011525094.2:c.-104A>C, XM_011525094.2:c.-104A>G, XM_011525094.2:c.-104A>T, XM_011525094.1:c.-104A>C, XM_011525094.1:c.-104A>G, XM_011525094.1:c.-104A>T, NM_058217.1:c.248A>C, NM_058217.1:c.248A>G, NM_058217.1:c.248A>T, XM_047436505.1:c.248A>C, XM_047436505.1:c.248A>G, XM_047436505.1:c.248A>T, NP_002867.1:p.Lys83Thr, NP_002867.1:p.Lys83Arg, NP_002867.1:p.Lys83Met, NP_478123.1:p.Lys83Thr, NP_478123.1:p.Lys83Arg, NP_478123.1:p.Lys83Met, XP_006722064.1:p.Lys83Thr, XP_006722064.1:p.Lys83Arg, XP_006722064.1:p.Lys83Met, XP_006722065.1:p.Lys83Thr, XP_006722065.1:p.Lys83Arg, XP_006722065.1:p.Lys83Met, XP_047292461.1:p.Lys83Thr, XP_047292461.1:p.Lys83Arg, XP_047292461.1:p.Lys83Met

                                        20.

                                        rs1331134740 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>C,T [Show Flanks]
                                          Chromosome:
                                          17:58692731 (GRCh38)
                                          17:56770092 (GRCh37)
                                          Canonical SPDI:
                                          NC_000017.11:58692730:G:C,NC_000017.11:58692730:G:T
                                          Gene:
                                          RAD51C (Varview), TEX14 (Varview), IGBP1P2 (Varview)
                                          Functional Consequence:
                                          2KB_upstream_variant,intron_variant,missense_variant,genic_upstream_transcript_variant,coding_sequence_variant,upstream_transcript_variant,non_coding_transcript_variant
                                          Clinical significance:
                                          uncertain-significance
                                          Validated:
                                          by frequency,by cluster
                                          MAF:
                                          T=0.00021/4 (TOMMO)
                                          HGVS:
                                          NC_000017.11:g.58692731G>C, NC_000017.11:g.58692731G>T, NC_000017.10:g.56770092G>C, NC_000017.10:g.56770092G>T, NG_047169.1:g.4349C>G, NG_047169.1:g.4349C>A, NG_023199.1:g.5130G>C, NG_023199.1:g.5130G>T, NM_002876.4:c.88G>C, NM_002876.4:c.88G>T, NM_002876.3:c.88G>C, NM_002876.3:c.88G>T, NM_058216.3:c.88G>C, NM_058216.3:c.88G>T, NM_058216.2:c.88G>C, NM_058216.2:c.88G>T, NR_103872.2:n.130G>C, NR_103872.2:n.130G>T, NR_103872.1:n.159G>C, NR_103872.1:n.159G>T, XM_006722001.5:c.88G>C, XM_006722001.5:c.88G>T, XM_006722001.4:c.88G>C, XM_006722001.4:c.88G>T, XM_006722001.3:c.88G>C, XM_006722001.3:c.88G>T, XM_006722001.2:c.88G>C, XM_006722001.2:c.88G>T, XM_006722001.1:c.88G>C, XM_006722001.1:c.88G>T, XM_006722002.5:c.88G>C, XM_006722002.5:c.88G>T, XM_006722002.4:c.88G>C, XM_006722002.4:c.88G>T, XM_006722002.3:c.88G>C, XM_006722002.3:c.88G>T, XM_006722002.2:c.88G>C, XM_006722002.2:c.88G>T, XM_006722002.1:c.88G>C, XM_006722002.1:c.88G>T, NM_058217.1:c.88G>C, NM_058217.1:c.88G>T, XM_047436505.1:c.88G>C, XM_047436505.1:c.88G>T, NP_002867.1:p.Ala30Pro, NP_002867.1:p.Ala30Ser, NP_478123.1:p.Ala30Pro, NP_478123.1:p.Ala30Ser, XP_006722064.1:p.Ala30Pro, XP_006722064.1:p.Ala30Ser, XP_006722065.1:p.Ala30Pro, XP_006722065.1:p.Ala30Ser, XP_047292461.1:p.Ala30Pro, XP_047292461.1:p.Ala30Ser

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