NLRP12 (NM_144687.4) sequence variants
(NALP12/PYPAF7/CLR19.3/PAN6/RNO2/Monarch-1)

Editor(s): Isabelle JERU   

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Classification Color   Status Color   Alteration Color     Pathogenic   Validated     Deletion   Police size Small Medium Large   Sort on 1 2 3 4 5 columns Likely pathogenic   Provisional     Duplication   VUS   Unsolved     Insertion   Likely benign   To be validated     Substitution   Reduce introns over px Benign   All       Delins   Unsolved           All     Not classified               All     86 sequence variant(s) among 86

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1   2   3   4   5   6   7   8   9   10       NLRP12 - NM_144687.4 2024-12-04 Flanking region UTR region Exonic region Intronic region   5' flanking X No variants X 5' UTR   c.-140T>A   c.-12C>T Exon 1 X   G39V   G52S   W70* Intron 1X   c.289+6G>C   c.289+18C>T Exon 2 X No variants Intron 2X   c.371-43C>T Exon 3 X   Q126*   D142N   N144S   R146H   T179I   R181W   D203=   P210L   A218T   p.N251K   T260M   P273=   R284*   P286L   D294E   G295Lfs*3   H304Y   P319R   R329Q   T341I   R352C   R370K   K371Nfs*20   F402L   P404L   W408*   L439Q   G448A   R482W   E507K   Y509Ter   M524I   A549T   L558R   T571S   S578G   W581*   H586Y   L591M   A629D   I641T   S651*   G683R Intron 3X   c.2072+2dupT Exon 4 X   L709P   N712S   G729R   V730Gfs*41   K731Q   N741S Intron 4X   c.2243+35C>T Exon 5 X   R753H   G786V   Q798= Intron 5X No variants Exon 6 X   L823=   L823=   A838T   E840Q Intron 6X No variants Exon 7 X   V901L   L918= Intron 7X   c.2756+2T>A   c.2757-1G>T Exon 8 X   A928=   A929T   N940S   R944=   G957S   W959* Intron 8X No variants Exon 9 X   D978H   S979G   I996=   A1009S   R1016*   R1030* Intron 9X   c.3098+99G>A   c.3099-33A>G Exon 10 X   W1033*   T1043A 3' UTR X No variants 3' flanking X No variants