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Items: 1 to 20 of 917

1.

rs1489746860 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>T [Show Flanks]
    Chromosome:
    7:18644783 (GRCh38)
    7:18684406 (GRCh37)
    Canonical SPDI:
    NC_000007.14:18644782:C:T
    Gene:
    HDAC9 (Varview)
    Functional Consequence:
    missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    T=0./0 (ALFA)
    T=0.000004/1 (TOPMED)
    T=0.000007/1 (GnomAD)
    HGVS:
    NC_000007.14:g.18644783C>T, NC_000007.13:g.18684406C>T, NG_023250.3:g.562835C>T, NM_178425.4:c.1025C>T, NM_178425.3:c.1025C>T, NM_178425.2:c.1025C>T, NM_014707.4:c.1016C>T, NM_014707.3:c.1016C>T, NM_014707.2:c.1016C>T, NM_014707.1:c.1016C>T, NM_178423.3:c.1016C>T, NM_178423.2:c.1016C>T, NM_178423.1:c.1016C>T, NM_001204144.3:c.1010C>T, NM_001204144.2:c.1010C>T, NM_001204144.1:c.1010C>T, NM_001204148.3:c.932C>T, NM_001204148.2:c.932C>T, NM_001204148.1:c.932C>T, NM_001204147.3:c.785C>T, NM_001204147.2:c.785C>T, NM_001204147.1:c.785C>T, NM_001204145.3:c.884C>T, NM_001204145.2:c.884C>T, NM_001204145.1:c.884C>T, NM_001321868.2:c.950C>T, NM_001321868.1:c.950C>T, NM_001321877.2:c.893C>T, NM_001321877.1:c.893C>T, NM_001321897.2:c.893C>T, NM_001321897.1:c.893C>T, NM_001321869.2:c.1091C>T, NM_001321869.1:c.1091C>T, NM_001321870.2:c.1082C>T, NM_001321870.1:c.1082C>T, NM_001321878.2:c.1016C>T, NM_001321878.1:c.1016C>T, NM_001321871.2:c.965C>T, NM_001321871.1:c.965C>T, NM_001321872.2:c.959C>T, NM_001321872.1:c.959C>T, NM_001321876.2:c.1019C>T, NM_001321876.1:c.1019C>T, NM_001321873.2:c.953C>T, NM_001321873.1:c.953C>T, NM_001321886.2:c.923C>T, NM_001321886.1:c.923C>T, NM_001321875.2:c.1031C>T, NM_001321875.1:c.1031C>T, NM_001321874.2:c.1025C>T, NM_001321874.1:c.1025C>T, NM_001321884.2:c.1019C>T, NM_001321884.1:c.1019C>T, NM_001321900.2:c.1016C>T, NM_001321900.1:c.1016C>T, NM_001321890.2:c.1010C>T, NM_001321890.1:c.1010C>T, NM_001321889.2:c.794C>T, NM_001321889.1:c.794C>T, NM_001204146.2:c.893C>T, NM_001204146.1:c.893C>T, NM_001321899.2:c.1025C>T, NM_001321899.1:c.1025C>T, NM_001321887.2:c.926C>T, NM_001321887.1:c.926C>T, NM_001321885.2:c.908C>T, NM_001321885.1:c.908C>T, NM_001321879.2:c.887C>T, NM_001321879.1:c.887C>T, NM_001321891.2:c.884C>T, NM_001321891.1:c.884C>T, NM_001321896.2:c.932C>T, NM_001321896.1:c.932C>T, NM_001321902.2:c.1025C>T, NM_001321902.1:c.1025C>T, NM_001321901.2:c.1019C>T, NM_001321901.1:c.1019C>T, NM_001321894.2:c.893C>T, NM_001321894.1:c.893C>T, NM_001321893.2:c.884C>T, NM_001321893.1:c.884C>T, NM_001321898.2:c.908C>T, NM_001321898.1:c.908C>T, NM_001321895.2:c.893C>T, NM_001321895.1:c.893C>T, NM_001321888.2:c.878C>T, NM_001321888.1:c.878C>T, NM_058176.2:c.1016C>T, NM_058177.2:c.1016C>T, NM_058177.1:c.1016C>T, NP_848512.1:p.Ser342Phe, NP_055522.1:p.Ser339Phe, NP_848510.1:p.Ser339Phe, NP_001191073.1:p.Ser337Phe, NP_001191077.1:p.Ser311Phe, NP_001191076.1:p.Ser262Phe, NP_001191074.1:p.Ser295Phe, NP_001308797.1:p.Ser317Phe, NP_001308806.1:p.Ser298Phe, NP_001308826.1:p.Ser298Phe, NP_001308798.1:p.Ser364Phe, NP_001308799.1:p.Ser361Phe, NP_001308807.1:p.Ser339Phe, NP_001308800.1:p.Ser322Phe, NP_001308801.1:p.Ser320Phe, NP_001308805.1:p.Ser340Phe, NP_001308802.1:p.Ser318Phe, NP_001308815.1:p.Ser308Phe, NP_001308804.1:p.Ser344Phe, NP_001308803.1:p.Ser342Phe, NP_001308813.1:p.Ser340Phe, NP_001308829.1:p.Ser339Phe, NP_001308819.1:p.Ser337Phe, NP_001308818.1:p.Ser265Phe, NP_001191075.1:p.Ser298Phe, NP_001308828.1:p.Ser342Phe, NP_001308816.1:p.Ser309Phe, NP_001308814.1:p.Ser303Phe, NP_001308808.1:p.Ser296Phe, NP_001308820.1:p.Ser295Phe, NP_001308825.1:p.Ser311Phe, NP_001308831.1:p.Ser342Phe, NP_001308830.1:p.Ser340Phe, NP_001308823.1:p.Ser298Phe, NP_001308822.1:p.Ser295Phe, NP_001308827.1:p.Ser303Phe, NP_001308824.1:p.Ser298Phe, NP_001308817.1:p.Ser293Phe, NP_478056.1:p.Ser339Phe

    2.

    rs1489191203 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>T [Show Flanks]
      Chromosome:
      7:18793393 (GRCh38)
      7:18833016 (GRCh37)
      Canonical SPDI:
      NC_000007.14:18793392:C:T
      Gene:
      HDAC9 (Varview)
      Functional Consequence:
      missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      T=0.000028/1 (ALFA)
      T=0.000007/1 (GnomAD)
      T=0.000008/2 (TOPMED)
      HGVS:

      3.

      rs1488919137 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>T [Show Flanks]
        Chromosome:
        7:18590456 (GRCh38)
        7:18630079 (GRCh37)
        Canonical SPDI:
        NC_000007.14:18590455:C:T
        Gene:
        HDAC9 (Varview)
        Functional Consequence:
        missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
        HGVS:
        NC_000007.14:g.18590456C>T, NC_000007.13:g.18630079C>T, NG_023250.3:g.508508C>T, NM_178425.4:c.385C>T, NM_178425.3:c.385C>T, NM_178425.2:c.385C>T, NM_014707.4:c.376C>T, NM_014707.3:c.376C>T, NM_014707.2:c.376C>T, NM_014707.1:c.376C>T, NM_178423.3:c.376C>T, NM_178423.2:c.376C>T, NM_178423.1:c.376C>T, NM_001204144.3:c.502C>T, NM_001204144.2:c.502C>T, NM_001204144.1:c.502C>T, NM_001204148.3:c.292C>T, NM_001204148.2:c.292C>T, NM_001204148.1:c.292C>T, NM_001204147.3:c.283C>T, NM_001204147.2:c.283C>T, NM_001204147.1:c.283C>T, NM_001204145.3:c.376C>T, NM_001204145.2:c.376C>T, NM_001204145.1:c.376C>T, NM_001321868.2:c.442C>T, NM_001321868.1:c.442C>T, NM_001321877.2:c.385C>T, NM_001321877.1:c.385C>T, NM_001321897.2:c.385C>T, NM_001321897.1:c.385C>T, NM_001321869.2:c.451C>T, NM_001321869.1:c.451C>T, NM_001321870.2:c.442C>T, NM_001321870.1:c.442C>T, NM_001321878.2:c.376C>T, NM_001321878.1:c.376C>T, NM_001321871.2:c.442C>T, NM_001321871.1:c.442C>T, NM_001321872.2:c.451C>T, NM_001321872.1:c.451C>T, NM_001321876.2:c.385C>T, NM_001321876.1:c.385C>T, NM_001321873.2:c.451C>T, NM_001321873.1:c.451C>T, NM_001321886.2:c.283C>T, NM_001321886.1:c.283C>T, NM_001321875.2:c.376C>T, NM_001321875.1:c.376C>T, NM_001321874.2:c.385C>T, NM_001321874.1:c.385C>T, NM_001321884.2:c.385C>T, NM_001321884.1:c.385C>T, NM_001321900.2:c.376C>T, NM_001321900.1:c.376C>T, NM_001321890.2:c.376C>T, NM_001321890.1:c.376C>T, NM_001321889.2:c.292C>T, NM_001321889.1:c.292C>T, NM_001204146.2:c.385C>T, NM_001204146.1:c.385C>T, NM_001321899.2:c.385C>T, NM_001321899.1:c.385C>T, NM_001321887.2:c.292C>T, NM_001321887.1:c.292C>T, NM_001321885.2:c.385C>T, NM_001321885.1:c.385C>T, NM_001321879.2:c.385C>T, NM_001321879.1:c.385C>T, NM_001321891.2:c.376C>T, NM_001321891.1:c.376C>T, NM_001321896.2:c.292C>T, NM_001321896.1:c.292C>T, NM_001321902.2:c.385C>T, NM_001321902.1:c.385C>T, NM_001321901.2:c.385C>T, NM_001321901.1:c.385C>T, NM_001321894.2:c.385C>T, NM_001321894.1:c.385C>T, NM_001321893.2:c.376C>T, NM_001321893.1:c.376C>T, NM_001321898.2:c.385C>T, NM_001321898.1:c.385C>T, NM_001321895.2:c.385C>T, NM_001321895.1:c.385C>T, NM_001321888.2:c.376C>T, NM_001321888.1:c.376C>T, NM_058176.2:c.376C>T, NM_058177.2:c.376C>T, NM_058177.1:c.376C>T, NP_848512.1:p.Pro129Ser, NP_055522.1:p.Pro126Ser, NP_848510.1:p.Pro126Ser, NP_001191073.1:p.Pro168Ser, NP_001191077.1:p.Pro98Ser, NP_001191076.1:p.Pro95Ser, NP_001191074.1:p.Pro126Ser, NP_001308797.1:p.Pro148Ser, NP_001308806.1:p.Pro129Ser, NP_001308826.1:p.Pro129Ser, NP_001308798.1:p.Pro151Ser, NP_001308799.1:p.Pro148Ser, NP_001308807.1:p.Pro126Ser, NP_001308800.1:p.Pro148Ser, NP_001308801.1:p.Pro151Ser, NP_001308805.1:p.Pro129Ser, NP_001308802.1:p.Pro151Ser, NP_001308815.1:p.Pro95Ser, NP_001308804.1:p.Pro126Ser, NP_001308803.1:p.Pro129Ser, NP_001308813.1:p.Pro129Ser, NP_001308829.1:p.Pro126Ser, NP_001308819.1:p.Pro126Ser, NP_001308818.1:p.Pro98Ser, NP_001191075.1:p.Pro129Ser, NP_001308828.1:p.Pro129Ser, NP_001308816.1:p.Pro98Ser, NP_001308814.1:p.Pro129Ser, NP_001308808.1:p.Pro129Ser, NP_001308820.1:p.Pro126Ser, NP_001308825.1:p.Pro98Ser, NP_001308831.1:p.Pro129Ser, NP_001308830.1:p.Pro129Ser, NP_001308823.1:p.Pro129Ser, NP_001308822.1:p.Pro126Ser, NP_001308827.1:p.Pro129Ser, NP_001308824.1:p.Pro129Ser, NP_001308817.1:p.Pro126Ser, NP_478056.1:p.Pro126Ser

        4.

        rs1488792983 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A [Show Flanks]
          Chromosome:
          7:18935859 (GRCh38)
          7:18975482 (GRCh37)
          Canonical SPDI:
          NC_000007.14:18935858:G:A
          Gene:
          HDAC9 (Varview)
          Functional Consequence:
          missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
          Validated:
          by frequency
          MAF:
          A=0.000004/1 (GnomAD_exomes)
          HGVS:

          5.

          rs1488432057 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>T [Show Flanks]
            Chromosome:
            7:18666279 (GRCh38)
            7:18705902 (GRCh37)
            Canonical SPDI:
            NC_000007.14:18666278:C:T
            Gene:
            HDAC9 (Varview)
            Functional Consequence:
            missense_variant,coding_sequence_variant,3_prime_UTR_variant,genic_downstream_transcript_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            T=0./0 (ALFA)
            T=0.000004/1 (TOPMED)
            T=0.000007/1 (GnomAD)
            HGVS:
            NC_000007.14:g.18666279C>T, NC_000007.13:g.18705902C>T, NG_023250.3:g.584331C>T, NM_178425.4:c.1534C>T, NM_178425.3:c.1534C>T, NM_178425.2:c.1534C>T, NM_014707.4:c.1525C>T, NM_014707.3:c.1525C>T, NM_014707.2:c.1525C>T, NM_014707.1:c.1525C>T, NM_178423.3:c.1525C>T, NM_178423.2:c.1525C>T, NM_178423.1:c.1525C>T, NM_001204144.3:c.1519C>T, NM_001204144.2:c.1519C>T, NM_001204144.1:c.1519C>T, NM_001204148.3:c.1441C>T, NM_001204148.2:c.1441C>T, NM_001204148.1:c.1441C>T, NM_001204147.3:c.1294C>T, NM_001204147.2:c.1294C>T, NM_001204147.1:c.1294C>T, NM_001204145.3:c.1393C>T, NM_001204145.2:c.1393C>T, NM_001204145.1:c.1393C>T, NM_001321868.2:c.1459C>T, NM_001321868.1:c.1459C>T, NM_001321877.2:c.1402C>T, NM_001321877.1:c.1402C>T, NM_001321897.2:c.1402C>T, NM_001321897.1:c.1402C>T, NM_001321869.2:c.1600C>T, NM_001321869.1:c.1600C>T, NM_001321870.2:c.1591C>T, NM_001321870.1:c.1591C>T, NM_001321878.2:c.1717C>T, NM_001321878.1:c.1717C>T, NM_001321871.2:c.1474C>T, NM_001321871.1:c.1474C>T, NM_001321872.2:c.1468C>T, NM_001321872.1:c.1468C>T, NM_001321876.2:c.*114C>T, NM_001321876.1:c.*114C>T, NM_001321873.2:c.1462C>T, NM_001321873.1:c.1462C>T, NM_001321886.2:c.1432C>T, NM_001321886.1:c.1432C>T, NM_001321875.2:c.1540C>T, NM_001321875.1:c.1540C>T, NM_001321874.2:c.1534C>T, NM_001321874.1:c.1534C>T, NM_001321884.2:c.1528C>T, NM_001321884.1:c.1528C>T, NM_001321900.2:c.1525C>T, NM_001321900.1:c.1525C>T, NM_001321890.2:c.1519C>T, NM_001321890.1:c.1519C>T, NM_001321889.2:c.1303C>T, NM_001321889.1:c.1303C>T, NM_001204146.2:c.1402C>T, NM_001204146.1:c.1402C>T, NM_001321899.2:c.1534C>T, NM_001321899.1:c.1534C>T, NM_001321887.2:c.1435C>T, NM_001321887.1:c.1435C>T, NM_001321885.2:c.1417C>T, NM_001321885.1:c.1417C>T, NM_001321879.2:c.1396C>T, NM_001321879.1:c.1396C>T, NM_001321891.2:c.1393C>T, NM_001321891.1:c.1393C>T, NM_001321896.2:c.1441C>T, NM_001321896.1:c.1441C>T, NM_001321902.2:c.1534C>T, NM_001321902.1:c.1534C>T, NM_001321901.2:c.1528C>T, NM_001321901.1:c.1528C>T, NM_001321894.2:c.1402C>T, NM_001321894.1:c.1402C>T, NM_001321893.2:c.1393C>T, NM_001321893.1:c.1393C>T, NM_001321898.2:c.1417C>T, NM_001321898.1:c.1417C>T, NM_001321895.2:c.1402C>T, NM_001321895.1:c.1402C>T, NM_001321888.2:c.1387C>T, NM_001321888.1:c.1387C>T, NM_058176.2:c.1525C>T, NM_058177.2:c.1525C>T, NM_058177.1:c.1525C>T, NP_848512.1:p.Leu512Phe, NP_055522.1:p.Leu509Phe, NP_848510.1:p.Leu509Phe, NP_001191073.1:p.Leu507Phe, NP_001191077.1:p.Leu481Phe, NP_001191076.1:p.Leu432Phe, NP_001191074.1:p.Leu465Phe, NP_001308797.1:p.Leu487Phe, NP_001308806.1:p.Leu468Phe, NP_001308826.1:p.Leu468Phe, NP_001308798.1:p.Leu534Phe, NP_001308799.1:p.Leu531Phe, NP_001308807.1:p.Leu573Phe, NP_001308800.1:p.Leu492Phe, NP_001308801.1:p.Leu490Phe, NP_001308802.1:p.Leu488Phe, NP_001308815.1:p.Leu478Phe, NP_001308804.1:p.Leu514Phe, NP_001308803.1:p.Leu512Phe, NP_001308813.1:p.Leu510Phe, NP_001308829.1:p.Leu509Phe, NP_001308819.1:p.Leu507Phe, NP_001308818.1:p.Leu435Phe, NP_001191075.1:p.Leu468Phe, NP_001308828.1:p.Leu512Phe, NP_001308816.1:p.Leu479Phe, NP_001308814.1:p.Leu473Phe, NP_001308808.1:p.Leu466Phe, NP_001308820.1:p.Leu465Phe, NP_001308825.1:p.Leu481Phe, NP_001308831.1:p.Leu512Phe, NP_001308830.1:p.Leu510Phe, NP_001308823.1:p.Leu468Phe, NP_001308822.1:p.Leu465Phe, NP_001308827.1:p.Leu473Phe, NP_001308824.1:p.Leu468Phe, NP_001308817.1:p.Leu463Phe, NP_478056.1:p.Leu509Phe

            6.

            rs1488355098 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>T [Show Flanks]
              Chromosome:
              7:18496264 (GRCh38)
              7:18535887 (GRCh37)
              Canonical SPDI:
              NC_000007.14:18496263:G:T
              Gene:
              HDAC9 (Varview)
              Functional Consequence:
              non_coding_transcript_variant,genic_upstream_transcript_variant,coding_sequence_variant,missense_variant,5_prime_UTR_variant
              Validated:
              by frequency
              MAF:
              T=0.000004/1 (GnomAD_exomes)
              HGVS:
              NC_000007.14:g.18496264G>T, NC_000007.13:g.18535887G>T, NG_023250.3:g.414316G>T, NM_178425.4:c.-39G>T, NM_178425.3:c.-39G>T, NM_178425.2:c.-39G>T, NM_014707.4:c.-39G>T, NM_014707.3:c.-39G>T, NM_014707.2:c.-39G>T, NM_014707.1:c.-39G>T, NM_178423.3:c.-39G>T, NM_178423.2:c.-39G>T, NM_178423.1:c.-39G>T, NM_001204144.3:c.88G>T, NM_001204144.2:c.88G>T, NM_001204144.1:c.88G>T, NM_001204145.3:c.-39G>T, NM_001204145.2:c.-39G>T, NM_001204145.1:c.-39G>T, NM_001321868.2:c.28G>T, NM_001321868.1:c.28G>T, NM_001321877.2:c.-39G>T, NM_001321877.1:c.-39G>T, NM_001321897.2:c.-39G>T, NM_001321897.1:c.-39G>T, NM_001321869.2:c.28G>T, NM_001321869.1:c.28G>T, NM_001321870.2:c.28G>T, NM_001321870.1:c.28G>T, NM_001321878.2:c.-39G>T, NM_001321878.1:c.-39G>T, NM_001321871.2:c.28G>T, NM_001321871.1:c.28G>T, NM_001321872.2:c.28G>T, NM_001321872.1:c.28G>T, NM_001321876.2:c.-39G>T, NM_001321876.1:c.-39G>T, NM_001321873.2:c.28G>T, NM_001321873.1:c.28G>T, NM_001321886.2:c.-191G>T, NM_001321886.1:c.-191G>T, NM_001321875.2:c.-39G>T, NM_001321875.1:c.-39G>T, NM_001321874.2:c.-39G>T, NM_001321874.1:c.-39G>T, NM_001321884.2:c.-39G>T, NM_001321884.1:c.-39G>T, NM_001321900.2:c.-39G>T, NM_001321900.1:c.-39G>T, NM_001321890.2:c.-39G>T, NM_001321890.1:c.-39G>T, NM_001321889.2:c.-191G>T, NM_001321889.1:c.-191G>T, NM_001204146.2:c.-39G>T, NM_001204146.1:c.-39G>T, NM_001321899.2:c.-39G>T, NM_001321899.1:c.-39G>T, NM_001321887.2:c.-191G>T, NM_001321887.1:c.-191G>T, NM_001321885.2:c.-39G>T, NM_001321885.1:c.-39G>T, NM_001321879.2:c.-39G>T, NM_001321879.1:c.-39G>T, NM_001321891.2:c.-39G>T, NM_001321891.1:c.-39G>T, NM_001321896.2:c.-191G>T, NM_001321896.1:c.-191G>T, NM_001321902.2:c.-39G>T, NM_001321902.1:c.-39G>T, NM_001321901.2:c.-39G>T, NM_001321901.1:c.-39G>T, NM_001321894.2:c.-39G>T, NM_001321894.1:c.-39G>T, NM_001321893.2:c.-39G>T, NM_001321893.1:c.-39G>T, NM_001321898.2:c.-39G>T, NM_001321898.1:c.-39G>T, NM_001321895.2:c.-39G>T, NM_001321895.1:c.-39G>T, NM_001321888.2:c.-39G>T, NM_001321888.1:c.-39G>T, NM_058176.2:c.-39G>T, NR_135835.2:n.278G>T, NR_135835.1:n.317G>T, NM_058177.2:c.-39G>T, NM_058177.1:c.-39G>T, NP_001191073.1:p.Gly30Trp, NP_001308797.1:p.Gly10Trp, NP_001308798.1:p.Gly10Trp, NP_001308799.1:p.Gly10Trp, NP_001308800.1:p.Gly10Trp, NP_001308801.1:p.Gly10Trp, NP_001308802.1:p.Gly10Trp

              7.

              rs1487715538 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>T [Show Flanks]
                Chromosome:
                7:18590404 (GRCh38)
                7:18630027 (GRCh37)
                Canonical SPDI:
                NC_000007.14:18590403:G:T
                Gene:
                HDAC9 (Varview)
                Functional Consequence:
                missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
                Validated:
                by frequency
                MAF:
                T=0.000004/1 (GnomAD_exomes)
                HGVS:
                NC_000007.14:g.18590404G>T, NC_000007.13:g.18630027G>T, NG_023250.3:g.508456G>T, NM_178425.4:c.333G>T, NM_178425.3:c.333G>T, NM_178425.2:c.333G>T, NM_014707.4:c.324G>T, NM_014707.3:c.324G>T, NM_014707.2:c.324G>T, NM_014707.1:c.324G>T, NM_178423.3:c.324G>T, NM_178423.2:c.324G>T, NM_178423.1:c.324G>T, NM_001204144.3:c.450G>T, NM_001204144.2:c.450G>T, NM_001204144.1:c.450G>T, NM_001204148.3:c.240G>T, NM_001204148.2:c.240G>T, NM_001204148.1:c.240G>T, NM_001204147.3:c.231G>T, NM_001204147.2:c.231G>T, NM_001204147.1:c.231G>T, NM_001204145.3:c.324G>T, NM_001204145.2:c.324G>T, NM_001204145.1:c.324G>T, NM_001321868.2:c.390G>T, NM_001321868.1:c.390G>T, NM_001321877.2:c.333G>T, NM_001321877.1:c.333G>T, NM_001321897.2:c.333G>T, NM_001321897.1:c.333G>T, NM_001321869.2:c.399G>T, NM_001321869.1:c.399G>T, NM_001321870.2:c.390G>T, NM_001321870.1:c.390G>T, NM_001321878.2:c.324G>T, NM_001321878.1:c.324G>T, NM_001321871.2:c.390G>T, NM_001321871.1:c.390G>T, NM_001321872.2:c.399G>T, NM_001321872.1:c.399G>T, NM_001321876.2:c.333G>T, NM_001321876.1:c.333G>T, NM_001321873.2:c.399G>T, NM_001321873.1:c.399G>T, NM_001321886.2:c.231G>T, NM_001321886.1:c.231G>T, NM_001321875.2:c.324G>T, NM_001321875.1:c.324G>T, NM_001321874.2:c.333G>T, NM_001321874.1:c.333G>T, NM_001321884.2:c.333G>T, NM_001321884.1:c.333G>T, NM_001321900.2:c.324G>T, NM_001321900.1:c.324G>T, NM_001321890.2:c.324G>T, NM_001321890.1:c.324G>T, NM_001321889.2:c.240G>T, NM_001321889.1:c.240G>T, NM_001204146.2:c.333G>T, NM_001204146.1:c.333G>T, NM_001321899.2:c.333G>T, NM_001321899.1:c.333G>T, NM_001321887.2:c.240G>T, NM_001321887.1:c.240G>T, NM_001321885.2:c.333G>T, NM_001321885.1:c.333G>T, NM_001321879.2:c.333G>T, NM_001321879.1:c.333G>T, NM_001321891.2:c.324G>T, NM_001321891.1:c.324G>T, NM_001321896.2:c.240G>T, NM_001321896.1:c.240G>T, NM_001321902.2:c.333G>T, NM_001321902.1:c.333G>T, NM_001321901.2:c.333G>T, NM_001321901.1:c.333G>T, NM_001321894.2:c.333G>T, NM_001321894.1:c.333G>T, NM_001321893.2:c.324G>T, NM_001321893.1:c.324G>T, NM_001321898.2:c.333G>T, NM_001321898.1:c.333G>T, NM_001321895.2:c.333G>T, NM_001321895.1:c.333G>T, NM_001321888.2:c.324G>T, NM_001321888.1:c.324G>T, NM_058176.2:c.324G>T, NM_058177.2:c.324G>T, NM_058177.1:c.324G>T, NP_848512.1:p.Gln111His, NP_055522.1:p.Gln108His, NP_848510.1:p.Gln108His, NP_001191073.1:p.Gln150His, NP_001191077.1:p.Gln80His, NP_001191076.1:p.Gln77His, NP_001191074.1:p.Gln108His, NP_001308797.1:p.Gln130His, NP_001308806.1:p.Gln111His, NP_001308826.1:p.Gln111His, NP_001308798.1:p.Gln133His, NP_001308799.1:p.Gln130His, NP_001308807.1:p.Gln108His, NP_001308800.1:p.Gln130His, NP_001308801.1:p.Gln133His, NP_001308805.1:p.Gln111His, NP_001308802.1:p.Gln133His, NP_001308815.1:p.Gln77His, NP_001308804.1:p.Gln108His, NP_001308803.1:p.Gln111His, NP_001308813.1:p.Gln111His, NP_001308829.1:p.Gln108His, NP_001308819.1:p.Gln108His, NP_001308818.1:p.Gln80His, NP_001191075.1:p.Gln111His, NP_001308828.1:p.Gln111His, NP_001308816.1:p.Gln80His, NP_001308814.1:p.Gln111His, NP_001308808.1:p.Gln111His, NP_001308820.1:p.Gln108His, NP_001308825.1:p.Gln80His, NP_001308831.1:p.Gln111His, NP_001308830.1:p.Gln111His, NP_001308823.1:p.Gln111His, NP_001308822.1:p.Gln108His, NP_001308827.1:p.Gln111His, NP_001308824.1:p.Gln111His, NP_001308817.1:p.Gln108His, NP_478056.1:p.Gln108His

                8.

                rs1487626418 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A [Show Flanks]
                  Chromosome:
                  7:18762247 (GRCh38)
                  7:18801870 (GRCh37)
                  Canonical SPDI:
                  NC_000007.14:18762246:G:A
                  Gene:
                  HDAC9 (Varview)
                  Functional Consequence:
                  missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  A=0./0 (ALFA)
                  A=0.000008/2 (GnomAD_exomes)
                  HGVS:

                  9.

                  rs1486796380 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>T [Show Flanks]
                    Chromosome:
                    7:18634695 (GRCh38)
                    7:18674318 (GRCh37)
                    Canonical SPDI:
                    NC_000007.14:18634694:G:T
                    Gene:
                    HDAC9 (Varview)
                    Functional Consequence:
                    genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    T=0./0 (ALFA)
                    T=0.000008/2 (TOPMED)
                    HGVS:
                    NC_000007.14:g.18634695G>T, NC_000007.13:g.18674318G>T, NG_023250.3:g.552747G>T, NM_178425.4:c.865G>T, NM_178425.3:c.865G>T, NM_178425.2:c.865G>T, NM_014707.4:c.856G>T, NM_014707.3:c.856G>T, NM_014707.2:c.856G>T, NM_014707.1:c.856G>T, NM_178423.3:c.856G>T, NM_178423.2:c.856G>T, NM_178423.1:c.856G>T, NM_001204144.3:c.850G>T, NM_001204144.2:c.850G>T, NM_001204144.1:c.850G>T, NM_001204148.3:c.772G>T, NM_001204148.2:c.772G>T, NM_001204148.1:c.772G>T, NM_001204147.3:c.625G>T, NM_001204147.2:c.625G>T, NM_001204147.1:c.625G>T, NM_001204145.3:c.724G>T, NM_001204145.2:c.724G>T, NM_001204145.1:c.724G>T, NM_001321868.2:c.790G>T, NM_001321868.1:c.790G>T, NM_001321877.2:c.733G>T, NM_001321877.1:c.733G>T, NM_001321897.2:c.733G>T, NM_001321897.1:c.733G>T, NM_001321869.2:c.931G>T, NM_001321869.1:c.931G>T, NM_001321870.2:c.922G>T, NM_001321870.1:c.922G>T, NM_001321878.2:c.856G>T, NM_001321878.1:c.856G>T, NM_001321871.2:c.805G>T, NM_001321871.1:c.805G>T, NM_001321872.2:c.799G>T, NM_001321872.1:c.799G>T, NM_001321876.2:c.859G>T, NM_001321876.1:c.859G>T, NM_001321873.2:c.793G>T, NM_001321873.1:c.793G>T, NM_001321886.2:c.763G>T, NM_001321886.1:c.763G>T, NM_001321875.2:c.871G>T, NM_001321875.1:c.871G>T, NM_001321874.2:c.865G>T, NM_001321874.1:c.865G>T, NM_001321884.2:c.859G>T, NM_001321884.1:c.859G>T, NM_001321900.2:c.856G>T, NM_001321900.1:c.856G>T, NM_001321890.2:c.850G>T, NM_001321890.1:c.850G>T, NM_001321889.2:c.634G>T, NM_001321889.1:c.634G>T, NM_001204146.2:c.733G>T, NM_001204146.1:c.733G>T, NM_001321899.2:c.865G>T, NM_001321899.1:c.865G>T, NM_001321887.2:c.766G>T, NM_001321887.1:c.766G>T, NM_001321885.2:c.748G>T, NM_001321885.1:c.748G>T, NM_001321879.2:c.727G>T, NM_001321879.1:c.727G>T, NM_001321891.2:c.724G>T, NM_001321891.1:c.724G>T, NM_001321896.2:c.772G>T, NM_001321896.1:c.772G>T, NM_001321902.2:c.865G>T, NM_001321902.1:c.865G>T, NM_001321901.2:c.859G>T, NM_001321901.1:c.859G>T, NM_001321894.2:c.733G>T, NM_001321894.1:c.733G>T, NM_001321893.2:c.724G>T, NM_001321893.1:c.724G>T, NM_001321898.2:c.748G>T, NM_001321898.1:c.748G>T, NM_001321895.2:c.733G>T, NM_001321895.1:c.733G>T, NM_001321888.2:c.718G>T, NM_001321888.1:c.718G>T, NM_058176.2:c.856G>T, NM_058177.2:c.856G>T, NM_058177.1:c.856G>T, NP_848512.1:p.Val289Phe, NP_055522.1:p.Val286Phe, NP_848510.1:p.Val286Phe, NP_001191073.1:p.Val284Phe, NP_001191077.1:p.Val258Phe, NP_001191076.1:p.Val209Phe, NP_001191074.1:p.Val242Phe, NP_001308797.1:p.Val264Phe, NP_001308806.1:p.Val245Phe, NP_001308826.1:p.Val245Phe, NP_001308798.1:p.Val311Phe, NP_001308799.1:p.Val308Phe, NP_001308807.1:p.Val286Phe, NP_001308800.1:p.Val269Phe, NP_001308801.1:p.Val267Phe, NP_001308805.1:p.Val287Phe, NP_001308802.1:p.Val265Phe, NP_001308815.1:p.Val255Phe, NP_001308804.1:p.Val291Phe, NP_001308803.1:p.Val289Phe, NP_001308813.1:p.Val287Phe, NP_001308829.1:p.Val286Phe, NP_001308819.1:p.Val284Phe, NP_001308818.1:p.Val212Phe, NP_001191075.1:p.Val245Phe, NP_001308828.1:p.Val289Phe, NP_001308816.1:p.Val256Phe, NP_001308814.1:p.Val250Phe, NP_001308808.1:p.Val243Phe, NP_001308820.1:p.Val242Phe, NP_001308825.1:p.Val258Phe, NP_001308831.1:p.Val289Phe, NP_001308830.1:p.Val287Phe, NP_001308823.1:p.Val245Phe, NP_001308822.1:p.Val242Phe, NP_001308827.1:p.Val250Phe, NP_001308824.1:p.Val245Phe, NP_001308817.1:p.Val240Phe, NP_478056.1:p.Val286Phe

                    10.

                    rs1486146813 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>T [Show Flanks]
                      Chromosome:
                      7:18874523 (GRCh38)
                      7:18914146 (GRCh37)
                      Canonical SPDI:
                      NC_000007.14:18874522:C:T
                      Gene:
                      HDAC9 (Varview)
                      Functional Consequence:
                      genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant
                      HGVS:

                      11.

                      rs1485779479 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A,T [Show Flanks]
                        Chromosome:
                        7:18647916 (GRCh38)
                        7:18687539 (GRCh37)
                        Canonical SPDI:
                        NC_000007.14:18647915:G:A,NC_000007.14:18647915:G:T
                        Gene:
                        HDAC9 (Varview)
                        Functional Consequence:
                        genic_downstream_transcript_variant,missense_variant,coding_sequence_variant,synonymous_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        T=0.000031/1 (ALFA)
                        T=0.000004/1 (GnomAD_exomes)
                        A=0.000007/1 (GnomAD)
                        HGVS:
                        NC_000007.14:g.18647916G>A, NC_000007.14:g.18647916G>T, NC_000007.13:g.18687539G>A, NC_000007.13:g.18687539G>T, NG_023250.3:g.565968G>A, NG_023250.3:g.565968G>T, NM_178425.4:c.1167G>A, NM_178425.4:c.1167G>T, NM_178425.3:c.1167G>A, NM_178425.3:c.1167G>T, NM_178425.2:c.1167G>A, NM_178425.2:c.1167G>T, NM_014707.4:c.1158G>A, NM_014707.4:c.1158G>T, NM_014707.3:c.1158G>A, NM_014707.3:c.1158G>T, NM_014707.2:c.1158G>A, NM_014707.2:c.1158G>T, NM_014707.1:c.1158G>A, NM_014707.1:c.1158G>T, NM_178423.3:c.1158G>A, NM_178423.3:c.1158G>T, NM_178423.2:c.1158G>A, NM_178423.2:c.1158G>T, NM_178423.1:c.1158G>A, NM_178423.1:c.1158G>T, NM_001204144.3:c.1152G>A, NM_001204144.3:c.1152G>T, NM_001204144.2:c.1152G>A, NM_001204144.2:c.1152G>T, NM_001204144.1:c.1152G>A, NM_001204144.1:c.1152G>T, NM_001204148.3:c.1074G>A, NM_001204148.3:c.1074G>T, NM_001204148.2:c.1074G>A, NM_001204148.2:c.1074G>T, NM_001204148.1:c.1074G>A, NM_001204148.1:c.1074G>T, NM_001204147.3:c.927G>A, NM_001204147.3:c.927G>T, NM_001204147.2:c.927G>A, NM_001204147.2:c.927G>T, NM_001204147.1:c.927G>A, NM_001204147.1:c.927G>T, NM_001204145.3:c.1026G>A, NM_001204145.3:c.1026G>T, NM_001204145.2:c.1026G>A, NM_001204145.2:c.1026G>T, NM_001204145.1:c.1026G>A, NM_001204145.1:c.1026G>T, NM_001321868.2:c.1092G>A, NM_001321868.2:c.1092G>T, NM_001321868.1:c.1092G>A, NM_001321868.1:c.1092G>T, NM_001321877.2:c.1035G>A, NM_001321877.2:c.1035G>T, NM_001321877.1:c.1035G>A, NM_001321877.1:c.1035G>T, NM_001321897.2:c.1035G>A, NM_001321897.2:c.1035G>T, NM_001321897.1:c.1035G>A, NM_001321897.1:c.1035G>T, NM_001321869.2:c.1233G>A, NM_001321869.2:c.1233G>T, NM_001321869.1:c.1233G>A, NM_001321869.1:c.1233G>T, NM_001321870.2:c.1224G>A, NM_001321870.2:c.1224G>T, NM_001321870.1:c.1224G>A, NM_001321870.1:c.1224G>T, NM_001321878.2:c.1158G>A, NM_001321878.2:c.1158G>T, NM_001321878.1:c.1158G>A, NM_001321878.1:c.1158G>T, NM_001321871.2:c.1107G>A, NM_001321871.2:c.1107G>T, NM_001321871.1:c.1107G>A, NM_001321871.1:c.1107G>T, NM_001321872.2:c.1101G>A, NM_001321872.2:c.1101G>T, NM_001321872.1:c.1101G>A, NM_001321872.1:c.1101G>T, NM_001321876.2:c.1161G>A, NM_001321876.2:c.1161G>T, NM_001321876.1:c.1161G>A, NM_001321876.1:c.1161G>T, NM_001321873.2:c.1095G>A, NM_001321873.2:c.1095G>T, NM_001321873.1:c.1095G>A, NM_001321873.1:c.1095G>T, NM_001321886.2:c.1065G>A, NM_001321886.2:c.1065G>T, NM_001321886.1:c.1065G>A, NM_001321886.1:c.1065G>T, NM_001321875.2:c.1173G>A, NM_001321875.2:c.1173G>T, NM_001321875.1:c.1173G>A, NM_001321875.1:c.1173G>T, NM_001321874.2:c.1167G>A, NM_001321874.2:c.1167G>T, NM_001321874.1:c.1167G>A, NM_001321874.1:c.1167G>T, NM_001321884.2:c.1161G>A, NM_001321884.2:c.1161G>T, NM_001321884.1:c.1161G>A, NM_001321884.1:c.1161G>T, NM_001321900.2:c.1158G>A, NM_001321900.2:c.1158G>T, NM_001321900.1:c.1158G>A, NM_001321900.1:c.1158G>T, NM_001321890.2:c.1152G>A, NM_001321890.2:c.1152G>T, NM_001321890.1:c.1152G>A, NM_001321890.1:c.1152G>T, NM_001321889.2:c.936G>A, NM_001321889.2:c.936G>T, NM_001321889.1:c.936G>A, NM_001321889.1:c.936G>T, NM_001204146.2:c.1035G>A, NM_001204146.2:c.1035G>T, NM_001204146.1:c.1035G>A, NM_001204146.1:c.1035G>T, NM_001321899.2:c.1167G>A, NM_001321899.2:c.1167G>T, NM_001321899.1:c.1167G>A, NM_001321899.1:c.1167G>T, NM_001321887.2:c.1068G>A, NM_001321887.2:c.1068G>T, NM_001321887.1:c.1068G>A, NM_001321887.1:c.1068G>T, NM_001321885.2:c.1050G>A, NM_001321885.2:c.1050G>T, NM_001321885.1:c.1050G>A, NM_001321885.1:c.1050G>T, NM_001321879.2:c.1029G>A, NM_001321879.2:c.1029G>T, NM_001321879.1:c.1029G>A, NM_001321879.1:c.1029G>T, NM_001321891.2:c.1026G>A, NM_001321891.2:c.1026G>T, NM_001321891.1:c.1026G>A, NM_001321891.1:c.1026G>T, NM_001321896.2:c.1074G>A, NM_001321896.2:c.1074G>T, NM_001321896.1:c.1074G>A, NM_001321896.1:c.1074G>T, NM_001321902.2:c.1167G>A, NM_001321902.2:c.1167G>T, NM_001321902.1:c.1167G>A, NM_001321902.1:c.1167G>T, NM_001321901.2:c.1161G>A, NM_001321901.2:c.1161G>T, NM_001321901.1:c.1161G>A, NM_001321901.1:c.1161G>T, NM_001321894.2:c.1035G>A, NM_001321894.2:c.1035G>T, NM_001321894.1:c.1035G>A, NM_001321894.1:c.1035G>T, NM_001321893.2:c.1026G>A, NM_001321893.2:c.1026G>T, NM_001321893.1:c.1026G>A, NM_001321893.1:c.1026G>T, NM_001321898.2:c.1050G>A, NM_001321898.2:c.1050G>T, NM_001321898.1:c.1050G>A, NM_001321898.1:c.1050G>T, NM_001321895.2:c.1035G>A, NM_001321895.2:c.1035G>T, NM_001321895.1:c.1035G>A, NM_001321895.1:c.1035G>T, NM_001321888.2:c.1020G>A, NM_001321888.2:c.1020G>T, NM_001321888.1:c.1020G>A, NM_001321888.1:c.1020G>T, NM_058176.2:c.1158G>A, NM_058176.2:c.1158G>T, NM_058177.2:c.1158G>A, NM_058177.2:c.1158G>T, NM_058177.1:c.1158G>A, NM_058177.1:c.1158G>T, NP_848512.1:p.Lys389Asn, NP_055522.1:p.Lys386Asn, NP_848510.1:p.Lys386Asn, NP_001191073.1:p.Lys384Asn, NP_001191077.1:p.Lys358Asn, NP_001191076.1:p.Lys309Asn, NP_001191074.1:p.Lys342Asn, NP_001308797.1:p.Lys364Asn, NP_001308806.1:p.Lys345Asn, NP_001308826.1:p.Lys345Asn, NP_001308798.1:p.Lys411Asn, NP_001308799.1:p.Lys408Asn, NP_001308807.1:p.Lys386Asn, NP_001308800.1:p.Lys369Asn, NP_001308801.1:p.Lys367Asn, NP_001308805.1:p.Lys387Asn, NP_001308802.1:p.Lys365Asn, NP_001308815.1:p.Lys355Asn, NP_001308804.1:p.Lys391Asn, NP_001308803.1:p.Lys389Asn, NP_001308813.1:p.Lys387Asn, NP_001308829.1:p.Lys386Asn, NP_001308819.1:p.Lys384Asn, NP_001308818.1:p.Lys312Asn, NP_001191075.1:p.Lys345Asn, NP_001308828.1:p.Lys389Asn, NP_001308816.1:p.Lys356Asn, NP_001308814.1:p.Lys350Asn, NP_001308808.1:p.Lys343Asn, NP_001308820.1:p.Lys342Asn, NP_001308825.1:p.Lys358Asn, NP_001308831.1:p.Lys389Asn, NP_001308830.1:p.Lys387Asn, NP_001308823.1:p.Lys345Asn, NP_001308822.1:p.Lys342Asn, NP_001308827.1:p.Lys350Asn, NP_001308824.1:p.Lys345Asn, NP_001308817.1:p.Lys340Asn, NP_478056.1:p.Lys386Asn

                        12.

                        rs1485280896 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A [Show Flanks]
                          Chromosome:
                          7:18935935 (GRCh38)
                          7:18975558 (GRCh37)
                          Canonical SPDI:
                          NC_000007.14:18935934:G:A
                          Gene:
                          HDAC9 (Varview)
                          Functional Consequence:
                          genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          A=0./0 (ALFA)
                          A=0.000008/2 (TOPMED)
                          A=0.000014/2 (GnomAD)
                          HGVS:

                          13.

                          rs1484480141 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>G [Show Flanks]
                            Chromosome:
                            7:18590469 (GRCh38)
                            7:18630092 (GRCh37)
                            Canonical SPDI:
                            NC_000007.14:18590468:A:G
                            Gene:
                            HDAC9 (Varview)
                            Functional Consequence:
                            genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
                            Validated:
                            by frequency
                            MAF:
                            G=0.000004/1 (GnomAD_exomes)
                            HGVS:
                            NC_000007.14:g.18590469A>G, NC_000007.13:g.18630092A>G, NG_023250.3:g.508521A>G, NM_178425.4:c.398A>G, NM_178425.3:c.398A>G, NM_178425.2:c.398A>G, NM_014707.4:c.389A>G, NM_014707.3:c.389A>G, NM_014707.2:c.389A>G, NM_014707.1:c.389A>G, NM_178423.3:c.389A>G, NM_178423.2:c.389A>G, NM_178423.1:c.389A>G, NM_001204144.3:c.515A>G, NM_001204144.2:c.515A>G, NM_001204144.1:c.515A>G, NM_001204148.3:c.305A>G, NM_001204148.2:c.305A>G, NM_001204148.1:c.305A>G, NM_001204147.3:c.296A>G, NM_001204147.2:c.296A>G, NM_001204147.1:c.296A>G, NM_001204145.3:c.389A>G, NM_001204145.2:c.389A>G, NM_001204145.1:c.389A>G, NM_001321868.2:c.455A>G, NM_001321868.1:c.455A>G, NM_001321877.2:c.398A>G, NM_001321877.1:c.398A>G, NM_001321897.2:c.398A>G, NM_001321897.1:c.398A>G, NM_001321869.2:c.464A>G, NM_001321869.1:c.464A>G, NM_001321870.2:c.455A>G, NM_001321870.1:c.455A>G, NM_001321878.2:c.389A>G, NM_001321878.1:c.389A>G, NM_001321871.2:c.455A>G, NM_001321871.1:c.455A>G, NM_001321872.2:c.464A>G, NM_001321872.1:c.464A>G, NM_001321876.2:c.398A>G, NM_001321876.1:c.398A>G, NM_001321873.2:c.464A>G, NM_001321873.1:c.464A>G, NM_001321886.2:c.296A>G, NM_001321886.1:c.296A>G, NM_001321875.2:c.389A>G, NM_001321875.1:c.389A>G, NM_001321874.2:c.398A>G, NM_001321874.1:c.398A>G, NM_001321884.2:c.398A>G, NM_001321884.1:c.398A>G, NM_001321900.2:c.389A>G, NM_001321900.1:c.389A>G, NM_001321890.2:c.389A>G, NM_001321890.1:c.389A>G, NM_001321889.2:c.305A>G, NM_001321889.1:c.305A>G, NM_001204146.2:c.398A>G, NM_001204146.1:c.398A>G, NM_001321899.2:c.398A>G, NM_001321899.1:c.398A>G, NM_001321887.2:c.305A>G, NM_001321887.1:c.305A>G, NM_001321885.2:c.398A>G, NM_001321885.1:c.398A>G, NM_001321879.2:c.398A>G, NM_001321879.1:c.398A>G, NM_001321891.2:c.389A>G, NM_001321891.1:c.389A>G, NM_001321896.2:c.305A>G, NM_001321896.1:c.305A>G, NM_001321902.2:c.398A>G, NM_001321902.1:c.398A>G, NM_001321901.2:c.398A>G, NM_001321901.1:c.398A>G, NM_001321894.2:c.398A>G, NM_001321894.1:c.398A>G, NM_001321893.2:c.389A>G, NM_001321893.1:c.389A>G, NM_001321898.2:c.398A>G, NM_001321898.1:c.398A>G, NM_001321895.2:c.398A>G, NM_001321895.1:c.398A>G, NM_001321888.2:c.389A>G, NM_001321888.1:c.389A>G, NM_058176.2:c.389A>G, NM_058177.2:c.389A>G, NM_058177.1:c.389A>G, NP_848512.1:p.Lys133Arg, NP_055522.1:p.Lys130Arg, NP_848510.1:p.Lys130Arg, NP_001191073.1:p.Lys172Arg, NP_001191077.1:p.Lys102Arg, NP_001191076.1:p.Lys99Arg, NP_001191074.1:p.Lys130Arg, NP_001308797.1:p.Lys152Arg, NP_001308806.1:p.Lys133Arg, NP_001308826.1:p.Lys133Arg, NP_001308798.1:p.Lys155Arg, NP_001308799.1:p.Lys152Arg, NP_001308807.1:p.Lys130Arg, NP_001308800.1:p.Lys152Arg, NP_001308801.1:p.Lys155Arg, NP_001308805.1:p.Lys133Arg, NP_001308802.1:p.Lys155Arg, NP_001308815.1:p.Lys99Arg, NP_001308804.1:p.Lys130Arg, NP_001308803.1:p.Lys133Arg, NP_001308813.1:p.Lys133Arg, NP_001308829.1:p.Lys130Arg, NP_001308819.1:p.Lys130Arg, NP_001308818.1:p.Lys102Arg, NP_001191075.1:p.Lys133Arg, NP_001308828.1:p.Lys133Arg, NP_001308816.1:p.Lys102Arg, NP_001308814.1:p.Lys133Arg, NP_001308808.1:p.Lys133Arg, NP_001308820.1:p.Lys130Arg, NP_001308825.1:p.Lys102Arg, NP_001308831.1:p.Lys133Arg, NP_001308830.1:p.Lys133Arg, NP_001308823.1:p.Lys133Arg, NP_001308822.1:p.Lys130Arg, NP_001308827.1:p.Lys133Arg, NP_001308824.1:p.Lys133Arg, NP_001308817.1:p.Lys130Arg, NP_478056.1:p.Lys130Arg

                            14.

                            rs1482711156 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>G [Show Flanks]
                              Chromosome:
                              7:18954265 (GRCh38)
                              7:18993888 (GRCh37)
                              Canonical SPDI:
                              NC_000007.14:18954264:A:G
                              Gene:
                              HDAC9 (Varview)
                              Functional Consequence:
                              intron_variant,3_prime_UTR_variant,genic_downstream_transcript_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              G=0./0 (ALFA)
                              G=0.000004/1 (TOPMED)
                              G=0.000007/1 (GnomAD)
                              HGVS:

                              15.

                              rs1481714529 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A [Show Flanks]
                                Chromosome:
                                7:18762166 (GRCh38)
                                7:18801789 (GRCh37)
                                Canonical SPDI:
                                NC_000007.14:18762165:G:A
                                Gene:
                                HDAC9 (Varview)
                                Functional Consequence:
                                genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                A=0./0 (ALFA)
                                A=0.000011/3 (TOPMED)
                                A=0.000021/3 (GnomAD)
                                HGVS:

                                16.

                                rs1481359407 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>G [Show Flanks]
                                  Chromosome:
                                  7:18647821 (GRCh38)
                                  7:18687444 (GRCh37)
                                  Canonical SPDI:
                                  NC_000007.14:18647820:A:G
                                  Gene:
                                  HDAC9 (Varview)
                                  Functional Consequence:
                                  genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
                                  Validated:
                                  by frequency
                                  MAF:
                                  G=0.000024/6 (GnomAD_exomes)
                                  HGVS:
                                  NC_000007.14:g.18647821A>G, NC_000007.13:g.18687444A>G, NG_023250.3:g.565873A>G, NM_178425.4:c.1072A>G, NM_178425.3:c.1072A>G, NM_178425.2:c.1072A>G, NM_014707.4:c.1063A>G, NM_014707.3:c.1063A>G, NM_014707.2:c.1063A>G, NM_014707.1:c.1063A>G, NM_178423.3:c.1063A>G, NM_178423.2:c.1063A>G, NM_178423.1:c.1063A>G, NM_001204144.3:c.1057A>G, NM_001204144.2:c.1057A>G, NM_001204144.1:c.1057A>G, NM_001204148.3:c.979A>G, NM_001204148.2:c.979A>G, NM_001204148.1:c.979A>G, NM_001204147.3:c.832A>G, NM_001204147.2:c.832A>G, NM_001204147.1:c.832A>G, NM_001204145.3:c.931A>G, NM_001204145.2:c.931A>G, NM_001204145.1:c.931A>G, NM_001321868.2:c.997A>G, NM_001321868.1:c.997A>G, NM_001321877.2:c.940A>G, NM_001321877.1:c.940A>G, NM_001321897.2:c.940A>G, NM_001321897.1:c.940A>G, NM_001321869.2:c.1138A>G, NM_001321869.1:c.1138A>G, NM_001321870.2:c.1129A>G, NM_001321870.1:c.1129A>G, NM_001321878.2:c.1063A>G, NM_001321878.1:c.1063A>G, NM_001321871.2:c.1012A>G, NM_001321871.1:c.1012A>G, NM_001321872.2:c.1006A>G, NM_001321872.1:c.1006A>G, NM_001321876.2:c.1066A>G, NM_001321876.1:c.1066A>G, NM_001321873.2:c.1000A>G, NM_001321873.1:c.1000A>G, NM_001321886.2:c.970A>G, NM_001321886.1:c.970A>G, NM_001321875.2:c.1078A>G, NM_001321875.1:c.1078A>G, NM_001321874.2:c.1072A>G, NM_001321874.1:c.1072A>G, NM_001321884.2:c.1066A>G, NM_001321884.1:c.1066A>G, NM_001321900.2:c.1063A>G, NM_001321900.1:c.1063A>G, NM_001321890.2:c.1057A>G, NM_001321890.1:c.1057A>G, NM_001321889.2:c.841A>G, NM_001321889.1:c.841A>G, NM_001204146.2:c.940A>G, NM_001204146.1:c.940A>G, NM_001321899.2:c.1072A>G, NM_001321899.1:c.1072A>G, NM_001321887.2:c.973A>G, NM_001321887.1:c.973A>G, NM_001321885.2:c.955A>G, NM_001321885.1:c.955A>G, NM_001321879.2:c.934A>G, NM_001321879.1:c.934A>G, NM_001321891.2:c.931A>G, NM_001321891.1:c.931A>G, NM_001321896.2:c.979A>G, NM_001321896.1:c.979A>G, NM_001321902.2:c.1072A>G, NM_001321902.1:c.1072A>G, NM_001321901.2:c.1066A>G, NM_001321901.1:c.1066A>G, NM_001321894.2:c.940A>G, NM_001321894.1:c.940A>G, NM_001321893.2:c.931A>G, NM_001321893.1:c.931A>G, NM_001321898.2:c.955A>G, NM_001321898.1:c.955A>G, NM_001321895.2:c.940A>G, NM_001321895.1:c.940A>G, NM_001321888.2:c.925A>G, NM_001321888.1:c.925A>G, NM_058176.2:c.1063A>G, NM_058177.2:c.1063A>G, NM_058177.1:c.1063A>G, NP_848512.1:p.Thr358Ala, NP_055522.1:p.Thr355Ala, NP_848510.1:p.Thr355Ala, NP_001191073.1:p.Thr353Ala, NP_001191077.1:p.Thr327Ala, NP_001191076.1:p.Thr278Ala, NP_001191074.1:p.Thr311Ala, NP_001308797.1:p.Thr333Ala, NP_001308806.1:p.Thr314Ala, NP_001308826.1:p.Thr314Ala, NP_001308798.1:p.Thr380Ala, NP_001308799.1:p.Thr377Ala, NP_001308807.1:p.Thr355Ala, NP_001308800.1:p.Thr338Ala, NP_001308801.1:p.Thr336Ala, NP_001308805.1:p.Thr356Ala, NP_001308802.1:p.Thr334Ala, NP_001308815.1:p.Thr324Ala, NP_001308804.1:p.Thr360Ala, NP_001308803.1:p.Thr358Ala, NP_001308813.1:p.Thr356Ala, NP_001308829.1:p.Thr355Ala, NP_001308819.1:p.Thr353Ala, NP_001308818.1:p.Thr281Ala, NP_001191075.1:p.Thr314Ala, NP_001308828.1:p.Thr358Ala, NP_001308816.1:p.Thr325Ala, NP_001308814.1:p.Thr319Ala, NP_001308808.1:p.Thr312Ala, NP_001308820.1:p.Thr311Ala, NP_001308825.1:p.Thr327Ala, NP_001308831.1:p.Thr358Ala, NP_001308830.1:p.Thr356Ala, NP_001308823.1:p.Thr314Ala, NP_001308822.1:p.Thr311Ala, NP_001308827.1:p.Thr319Ala, NP_001308824.1:p.Thr314Ala, NP_001308817.1:p.Thr309Ala, NP_478056.1:p.Thr355Ala

                                  17.

                                  rs1480252037 [Homo sapiens]
                                    Variant type:
                                    INS
                                    Alleles:
                                    ->TTTTTTTT [Show Flanks]
                                    Chromosome:
                                    7:18648470 (GRCh38)
                                    7:18688094 (GRCh37)
                                    Canonical SPDI:
                                    NC_000007.14:18648470::TTTTTTTT
                                    Gene:
                                    HDAC9 (Varview)
                                    Functional Consequence:
                                    frameshift_variant,genic_downstream_transcript_variant,coding_sequence_variant
                                    HGVS:
                                    NC_000007.14:g.18648470_18648471insTTTTTTTT, NC_000007.13:g.18688093_18688094insTTTTTTTT, NG_023250.3:g.566522_566523insTTTTTTTT, NM_178425.4:c.1254_1255insTTTTTTTT, NM_178425.3:c.1254_1255insTTTTTTTT, NM_178425.2:c.1254_1255insTTTTTTTT, NM_014707.4:c.1245_1246insTTTTTTTT, NM_014707.3:c.1245_1246insTTTTTTTT, NM_014707.2:c.1245_1246insTTTTTTTT, NM_014707.1:c.1245_1246insTTTTTTTT, NM_178423.3:c.1245_1246insTTTTTTTT, NM_178423.2:c.1245_1246insTTTTTTTT, NM_178423.1:c.1245_1246insTTTTTTTT, NM_001204144.3:c.1239_1240insTTTTTTTT, NM_001204144.2:c.1239_1240insTTTTTTTT, NM_001204144.1:c.1239_1240insTTTTTTTT, NM_001204148.3:c.1161_1162insTTTTTTTT, NM_001204148.2:c.1161_1162insTTTTTTTT, NM_001204148.1:c.1161_1162insTTTTTTTT, NM_001204147.3:c.1014_1015insTTTTTTTT, NM_001204147.2:c.1014_1015insTTTTTTTT, NM_001204147.1:c.1014_1015insTTTTTTTT, NM_001204145.3:c.1113_1114insTTTTTTTT, NM_001204145.2:c.1113_1114insTTTTTTTT, NM_001204145.1:c.1113_1114insTTTTTTTT, NM_001321868.2:c.1179_1180insTTTTTTTT, NM_001321868.1:c.1179_1180insTTTTTTTT, NM_001321877.2:c.1122_1123insTTTTTTTT, NM_001321877.1:c.1122_1123insTTTTTTTT, NM_001321897.2:c.1122_1123insTTTTTTTT, NM_001321897.1:c.1122_1123insTTTTTTTT, NM_001321869.2:c.1320_1321insTTTTTTTT, NM_001321869.1:c.1320_1321insTTTTTTTT, NM_001321870.2:c.1311_1312insTTTTTTTT, NM_001321870.1:c.1311_1312insTTTTTTTT, NM_001321878.2:c.1245_1246insTTTTTTTT, NM_001321878.1:c.1245_1246insTTTTTTTT, NM_001321871.2:c.1194_1195insTTTTTTTT, NM_001321871.1:c.1194_1195insTTTTTTTT, NM_001321872.2:c.1188_1189insTTTTTTTT, NM_001321872.1:c.1188_1189insTTTTTTTT, NM_001321876.2:c.1248_1249insTTTTTTTT, NM_001321876.1:c.1248_1249insTTTTTTTT, NM_001321873.2:c.1182_1183insTTTTTTTT, NM_001321873.1:c.1182_1183insTTTTTTTT, NM_001321886.2:c.1152_1153insTTTTTTTT, NM_001321886.1:c.1152_1153insTTTTTTTT, NM_001321875.2:c.1260_1261insTTTTTTTT, NM_001321875.1:c.1260_1261insTTTTTTTT, NM_001321874.2:c.1254_1255insTTTTTTTT, NM_001321874.1:c.1254_1255insTTTTTTTT, NM_001321884.2:c.1248_1249insTTTTTTTT, NM_001321884.1:c.1248_1249insTTTTTTTT, NM_001321900.2:c.1245_1246insTTTTTTTT, NM_001321900.1:c.1245_1246insTTTTTTTT, NM_001321890.2:c.1239_1240insTTTTTTTT, NM_001321890.1:c.1239_1240insTTTTTTTT, NM_001321889.2:c.1023_1024insTTTTTTTT, NM_001321889.1:c.1023_1024insTTTTTTTT, NM_001204146.2:c.1122_1123insTTTTTTTT, NM_001204146.1:c.1122_1123insTTTTTTTT, NM_001321899.2:c.1254_1255insTTTTTTTT, NM_001321899.1:c.1254_1255insTTTTTTTT, NM_001321887.2:c.1155_1156insTTTTTTTT, NM_001321887.1:c.1155_1156insTTTTTTTT, NM_001321885.2:c.1137_1138insTTTTTTTT, NM_001321885.1:c.1137_1138insTTTTTTTT, NM_001321879.2:c.1116_1117insTTTTTTTT, NM_001321879.1:c.1116_1117insTTTTTTTT, NM_001321891.2:c.1113_1114insTTTTTTTT, NM_001321891.1:c.1113_1114insTTTTTTTT, NM_001321896.2:c.1161_1162insTTTTTTTT, NM_001321896.1:c.1161_1162insTTTTTTTT, NM_001321902.2:c.1254_1255insTTTTTTTT, NM_001321902.1:c.1254_1255insTTTTTTTT, NM_001321901.2:c.1248_1249insTTTTTTTT, NM_001321901.1:c.1248_1249insTTTTTTTT, NM_001321894.2:c.1122_1123insTTTTTTTT, NM_001321894.1:c.1122_1123insTTTTTTTT, NM_001321893.2:c.1113_1114insTTTTTTTT, NM_001321893.1:c.1113_1114insTTTTTTTT, NM_001321898.2:c.1137_1138insTTTTTTTT, NM_001321898.1:c.1137_1138insTTTTTTTT, NM_001321895.2:c.1122_1123insTTTTTTTT, NM_001321895.1:c.1122_1123insTTTTTTTT, NM_001321888.2:c.1107_1108insTTTTTTTT, NM_001321888.1:c.1107_1108insTTTTTTTT, NM_058176.2:c.1245_1246insTTTTTTTT, NM_058177.2:c.1245_1246insTTTTTTTT, NM_058177.1:c.1245_1246insTTTTTTTT, NP_848512.1:p.Val419fs, NP_055522.1:p.Val416fs, NP_848510.1:p.Val416fs, NP_001191073.1:p.Val414fs, NP_001191077.1:p.Val388fs, NP_001191076.1:p.Val339fs, NP_001191074.1:p.Val372fs, NP_001308797.1:p.Val394fs, NP_001308806.1:p.Val375fs, NP_001308826.1:p.Val375fs, NP_001308798.1:p.Val441fs, NP_001308799.1:p.Val438fs, NP_001308807.1:p.Val416fs, NP_001308800.1:p.Val399fs, NP_001308801.1:p.Val397fs, NP_001308805.1:p.Val417fs, NP_001308802.1:p.Val395fs, NP_001308815.1:p.Val385fs, NP_001308804.1:p.Val421fs, NP_001308803.1:p.Val419fs, NP_001308813.1:p.Val417fs, NP_001308829.1:p.Val416fs, NP_001308819.1:p.Val414fs, NP_001308818.1:p.Val342fs, NP_001191075.1:p.Val375fs, NP_001308828.1:p.Val419fs, NP_001308816.1:p.Val386fs, NP_001308814.1:p.Val380fs, NP_001308808.1:p.Val373fs, NP_001308820.1:p.Val372fs, NP_001308825.1:p.Val388fs, NP_001308831.1:p.Val419fs, NP_001308830.1:p.Val417fs, NP_001308823.1:p.Val375fs, NP_001308822.1:p.Val372fs, NP_001308827.1:p.Val380fs, NP_001308824.1:p.Val375fs, NP_001308817.1:p.Val370fs, NP_478056.1:p.Val416fs

                                    18.

                                    rs1478958255 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A [Show Flanks]
                                      Chromosome:
                                      7:18591524 (GRCh38)
                                      7:18631147 (GRCh37)
                                      Canonical SPDI:
                                      NC_000007.14:18591523:G:A
                                      Gene:
                                      HDAC9 (Varview)
                                      Functional Consequence:
                                      genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      A=0./0 (ALFA)
                                      A=0.000011/3 (TOPMED)
                                      HGVS:
                                      NC_000007.14:g.18591524G>A, NC_000007.13:g.18631147G>A, NG_023250.3:g.509576G>A, NM_178425.4:c.424G>A, NM_178425.3:c.424G>A, NM_178425.2:c.424G>A, NM_014707.4:c.415G>A, NM_014707.3:c.415G>A, NM_014707.2:c.415G>A, NM_014707.1:c.415G>A, NM_178423.3:c.415G>A, NM_178423.2:c.415G>A, NM_178423.1:c.415G>A, NM_001204144.3:c.541G>A, NM_001204144.2:c.541G>A, NM_001204144.1:c.541G>A, NM_001204148.3:c.331G>A, NM_001204148.2:c.331G>A, NM_001204148.1:c.331G>A, NM_001204147.3:c.322G>A, NM_001204147.2:c.322G>A, NM_001204147.1:c.322G>A, NM_001204145.3:c.415G>A, NM_001204145.2:c.415G>A, NM_001204145.1:c.415G>A, NM_001321868.2:c.481G>A, NM_001321868.1:c.481G>A, NM_001321877.2:c.424G>A, NM_001321877.1:c.424G>A, NM_001321897.2:c.424G>A, NM_001321897.1:c.424G>A, NM_001321869.2:c.490G>A, NM_001321869.1:c.490G>A, NM_001321870.2:c.481G>A, NM_001321870.1:c.481G>A, NM_001321878.2:c.415G>A, NM_001321878.1:c.415G>A, NM_001321871.2:c.496G>A, NM_001321871.1:c.496G>A, NM_001321872.2:c.490G>A, NM_001321872.1:c.490G>A, NM_001321876.2:c.424G>A, NM_001321876.1:c.424G>A, NM_001321873.2:c.490G>A, NM_001321873.1:c.490G>A, NM_001321886.2:c.322G>A, NM_001321886.1:c.322G>A, NM_001321875.2:c.430G>A, NM_001321875.1:c.430G>A, NM_001321874.2:c.424G>A, NM_001321874.1:c.424G>A, NM_001321884.2:c.424G>A, NM_001321884.1:c.424G>A, NM_001321900.2:c.415G>A, NM_001321900.1:c.415G>A, NM_001321890.2:c.415G>A, NM_001321890.1:c.415G>A, NM_001321889.2:c.331G>A, NM_001321889.1:c.331G>A, NM_001204146.2:c.424G>A, NM_001204146.1:c.424G>A, NM_001321899.2:c.424G>A, NM_001321899.1:c.424G>A, NM_001321887.2:c.331G>A, NM_001321887.1:c.331G>A, NM_001321885.2:c.439G>A, NM_001321885.1:c.439G>A, NM_001321879.2:c.424G>A, NM_001321879.1:c.424G>A, NM_001321891.2:c.415G>A, NM_001321891.1:c.415G>A, NM_001321896.2:c.331G>A, NM_001321896.1:c.331G>A, NM_001321902.2:c.424G>A, NM_001321902.1:c.424G>A, NM_001321901.2:c.424G>A, NM_001321901.1:c.424G>A, NM_001321894.2:c.424G>A, NM_001321894.1:c.424G>A, NM_001321893.2:c.415G>A, NM_001321893.1:c.415G>A, NM_001321898.2:c.439G>A, NM_001321898.1:c.439G>A, NM_001321895.2:c.424G>A, NM_001321895.1:c.424G>A, NM_001321888.2:c.415G>A, NM_001321888.1:c.415G>A, NM_058176.2:c.415G>A, NM_058177.2:c.415G>A, NM_058177.1:c.415G>A, NP_848512.1:p.Ala142Thr, NP_055522.1:p.Ala139Thr, NP_848510.1:p.Ala139Thr, NP_001191073.1:p.Ala181Thr, NP_001191077.1:p.Ala111Thr, NP_001191076.1:p.Ala108Thr, NP_001191074.1:p.Ala139Thr, NP_001308797.1:p.Ala161Thr, NP_001308806.1:p.Ala142Thr, NP_001308826.1:p.Ala142Thr, NP_001308798.1:p.Ala164Thr, NP_001308799.1:p.Ala161Thr, NP_001308807.1:p.Ala139Thr, NP_001308800.1:p.Ala166Thr, NP_001308801.1:p.Ala164Thr, NP_001308805.1:p.Ala142Thr, NP_001308802.1:p.Ala164Thr, NP_001308815.1:p.Ala108Thr, NP_001308804.1:p.Ala144Thr, NP_001308803.1:p.Ala142Thr, NP_001308813.1:p.Ala142Thr, NP_001308829.1:p.Ala139Thr, NP_001308819.1:p.Ala139Thr, NP_001308818.1:p.Ala111Thr, NP_001191075.1:p.Ala142Thr, NP_001308828.1:p.Ala142Thr, NP_001308816.1:p.Ala111Thr, NP_001308814.1:p.Ala147Thr, NP_001308808.1:p.Ala142Thr, NP_001308820.1:p.Ala139Thr, NP_001308825.1:p.Ala111Thr, NP_001308831.1:p.Ala142Thr, NP_001308830.1:p.Ala142Thr, NP_001308823.1:p.Ala142Thr, NP_001308822.1:p.Ala139Thr, NP_001308827.1:p.Ala147Thr, NP_001308824.1:p.Ala142Thr, NP_001308817.1:p.Ala139Thr, NP_478056.1:p.Ala139Thr

                                      19.

                                      rs1477601541 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A [Show Flanks]
                                        Chromosome:
                                        7:18647839 (GRCh38)
                                        7:18687462 (GRCh37)
                                        Canonical SPDI:
                                        NC_000007.14:18647838:G:A
                                        Gene:
                                        HDAC9 (Varview)
                                        Functional Consequence:
                                        genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
                                        Validated:
                                        by frequency
                                        MAF:
                                        A=0.000004/1 (GnomAD_exomes)
                                        HGVS:
                                        NC_000007.14:g.18647839G>A, NC_000007.13:g.18687462G>A, NG_023250.3:g.565891G>A, NM_178425.4:c.1090G>A, NM_178425.3:c.1090G>A, NM_178425.2:c.1090G>A, NM_014707.4:c.1081G>A, NM_014707.3:c.1081G>A, NM_014707.2:c.1081G>A, NM_014707.1:c.1081G>A, NM_178423.3:c.1081G>A, NM_178423.2:c.1081G>A, NM_178423.1:c.1081G>A, NM_001204144.3:c.1075G>A, NM_001204144.2:c.1075G>A, NM_001204144.1:c.1075G>A, NM_001204148.3:c.997G>A, NM_001204148.2:c.997G>A, NM_001204148.1:c.997G>A, NM_001204147.3:c.850G>A, NM_001204147.2:c.850G>A, NM_001204147.1:c.850G>A, NM_001204145.3:c.949G>A, NM_001204145.2:c.949G>A, NM_001204145.1:c.949G>A, NM_001321868.2:c.1015G>A, NM_001321868.1:c.1015G>A, NM_001321877.2:c.958G>A, NM_001321877.1:c.958G>A, NM_001321897.2:c.958G>A, NM_001321897.1:c.958G>A, NM_001321869.2:c.1156G>A, NM_001321869.1:c.1156G>A, NM_001321870.2:c.1147G>A, NM_001321870.1:c.1147G>A, NM_001321878.2:c.1081G>A, NM_001321878.1:c.1081G>A, NM_001321871.2:c.1030G>A, NM_001321871.1:c.1030G>A, NM_001321872.2:c.1024G>A, NM_001321872.1:c.1024G>A, NM_001321876.2:c.1084G>A, NM_001321876.1:c.1084G>A, NM_001321873.2:c.1018G>A, NM_001321873.1:c.1018G>A, NM_001321886.2:c.988G>A, NM_001321886.1:c.988G>A, NM_001321875.2:c.1096G>A, NM_001321875.1:c.1096G>A, NM_001321874.2:c.1090G>A, NM_001321874.1:c.1090G>A, NM_001321884.2:c.1084G>A, NM_001321884.1:c.1084G>A, NM_001321900.2:c.1081G>A, NM_001321900.1:c.1081G>A, NM_001321890.2:c.1075G>A, NM_001321890.1:c.1075G>A, NM_001321889.2:c.859G>A, NM_001321889.1:c.859G>A, NM_001204146.2:c.958G>A, NM_001204146.1:c.958G>A, NM_001321899.2:c.1090G>A, NM_001321899.1:c.1090G>A, NM_001321887.2:c.991G>A, NM_001321887.1:c.991G>A, NM_001321885.2:c.973G>A, NM_001321885.1:c.973G>A, NM_001321879.2:c.952G>A, NM_001321879.1:c.952G>A, NM_001321891.2:c.949G>A, NM_001321891.1:c.949G>A, NM_001321896.2:c.997G>A, NM_001321896.1:c.997G>A, NM_001321902.2:c.1090G>A, NM_001321902.1:c.1090G>A, NM_001321901.2:c.1084G>A, NM_001321901.1:c.1084G>A, NM_001321894.2:c.958G>A, NM_001321894.1:c.958G>A, NM_001321893.2:c.949G>A, NM_001321893.1:c.949G>A, NM_001321898.2:c.973G>A, NM_001321898.1:c.973G>A, NM_001321895.2:c.958G>A, NM_001321895.1:c.958G>A, NM_001321888.2:c.943G>A, NM_001321888.1:c.943G>A, NM_058176.2:c.1081G>A, NM_058177.2:c.1081G>A, NM_058177.1:c.1081G>A, NP_848512.1:p.Gly364Ser, NP_055522.1:p.Gly361Ser, NP_848510.1:p.Gly361Ser, NP_001191073.1:p.Gly359Ser, NP_001191077.1:p.Gly333Ser, NP_001191076.1:p.Gly284Ser, NP_001191074.1:p.Gly317Ser, NP_001308797.1:p.Gly339Ser, NP_001308806.1:p.Gly320Ser, NP_001308826.1:p.Gly320Ser, NP_001308798.1:p.Gly386Ser, NP_001308799.1:p.Gly383Ser, NP_001308807.1:p.Gly361Ser, NP_001308800.1:p.Gly344Ser, NP_001308801.1:p.Gly342Ser, NP_001308805.1:p.Gly362Ser, NP_001308802.1:p.Gly340Ser, NP_001308815.1:p.Gly330Ser, NP_001308804.1:p.Gly366Ser, NP_001308803.1:p.Gly364Ser, NP_001308813.1:p.Gly362Ser, NP_001308829.1:p.Gly361Ser, NP_001308819.1:p.Gly359Ser, NP_001308818.1:p.Gly287Ser, NP_001191075.1:p.Gly320Ser, NP_001308828.1:p.Gly364Ser, NP_001308816.1:p.Gly331Ser, NP_001308814.1:p.Gly325Ser, NP_001308808.1:p.Gly318Ser, NP_001308820.1:p.Gly317Ser, NP_001308825.1:p.Gly333Ser, NP_001308831.1:p.Gly364Ser, NP_001308830.1:p.Gly362Ser, NP_001308823.1:p.Gly320Ser, NP_001308822.1:p.Gly317Ser, NP_001308827.1:p.Gly325Ser, NP_001308824.1:p.Gly320Ser, NP_001308817.1:p.Gly315Ser, NP_478056.1:p.Gly361Ser

                                        20.

                                        rs1476753272 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>G [Show Flanks]
                                          Chromosome:
                                          7:18591553 (GRCh38)
                                          7:18631176 (GRCh37)
                                          Canonical SPDI:
                                          NC_000007.14:18591552:A:G
                                          Gene:
                                          HDAC9 (Varview)
                                          Functional Consequence:
                                          genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          G=0./0 (ALFA)
                                          G=0.000016/4 (GnomAD_exomes)
                                          G=0.000053/14 (TOPMED)
                                          G=0.000071/10 (GnomAD)
                                          HGVS:
                                          NC_000007.14:g.18591553A>G, NC_000007.13:g.18631176A>G, NG_023250.3:g.509605A>G, NM_178425.4:c.453A>G, NM_178425.3:c.453A>G, NM_178425.2:c.453A>G, NM_014707.4:c.444A>G, NM_014707.3:c.444A>G, NM_014707.2:c.444A>G, NM_014707.1:c.444A>G, NM_178423.3:c.444A>G, NM_178423.2:c.444A>G, NM_178423.1:c.444A>G, NM_001204144.3:c.570A>G, NM_001204144.2:c.570A>G, NM_001204144.1:c.570A>G, NM_001204148.3:c.360A>G, NM_001204148.2:c.360A>G, NM_001204148.1:c.360A>G, NM_001204147.3:c.351A>G, NM_001204147.2:c.351A>G, NM_001204147.1:c.351A>G, NM_001204145.3:c.444A>G, NM_001204145.2:c.444A>G, NM_001204145.1:c.444A>G, NM_001321868.2:c.510A>G, NM_001321868.1:c.510A>G, NM_001321877.2:c.453A>G, NM_001321877.1:c.453A>G, NM_001321897.2:c.453A>G, NM_001321897.1:c.453A>G, NM_001321869.2:c.519A>G, NM_001321869.1:c.519A>G, NM_001321870.2:c.510A>G, NM_001321870.1:c.510A>G, NM_001321878.2:c.444A>G, NM_001321878.1:c.444A>G, NM_001321871.2:c.525A>G, NM_001321871.1:c.525A>G, NM_001321872.2:c.519A>G, NM_001321872.1:c.519A>G, NM_001321876.2:c.453A>G, NM_001321876.1:c.453A>G, NM_001321873.2:c.519A>G, NM_001321873.1:c.519A>G, NM_001321886.2:c.351A>G, NM_001321886.1:c.351A>G, NM_001321875.2:c.459A>G, NM_001321875.1:c.459A>G, NM_001321874.2:c.453A>G, NM_001321874.1:c.453A>G, NM_001321884.2:c.453A>G, NM_001321884.1:c.453A>G, NM_001321900.2:c.444A>G, NM_001321900.1:c.444A>G, NM_001321890.2:c.444A>G, NM_001321890.1:c.444A>G, NM_001321889.2:c.360A>G, NM_001321889.1:c.360A>G, NM_001204146.2:c.453A>G, NM_001204146.1:c.453A>G, NM_001321899.2:c.453A>G, NM_001321899.1:c.453A>G, NM_001321887.2:c.360A>G, NM_001321887.1:c.360A>G, NM_001321885.2:c.468A>G, NM_001321885.1:c.468A>G, NM_001321879.2:c.453A>G, NM_001321879.1:c.453A>G, NM_001321891.2:c.444A>G, NM_001321891.1:c.444A>G, NM_001321896.2:c.360A>G, NM_001321896.1:c.360A>G, NM_001321902.2:c.453A>G, NM_001321902.1:c.453A>G, NM_001321901.2:c.453A>G, NM_001321901.1:c.453A>G, NM_001321894.2:c.453A>G, NM_001321894.1:c.453A>G, NM_001321893.2:c.444A>G, NM_001321893.1:c.444A>G, NM_001321898.2:c.468A>G, NM_001321898.1:c.468A>G, NM_001321895.2:c.453A>G, NM_001321895.1:c.453A>G, NM_001321888.2:c.444A>G, NM_001321888.1:c.444A>G, NM_058176.2:c.444A>G, NM_058177.2:c.444A>G, NM_058177.1:c.444A>G

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