NOD2 (NM_022162.3) sequence variants
(CARD15/IBD1/CLR16.3/NLRC2)

Editor(s): Suzanne LESAGE   

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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     192 sequence variant(s) among 192

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1   2   3   4   5   6   7   8   9   10   11   12       NOD2 - NM_022162.3 2024-11-21 Flanking region UTR region Exonic region Intronic region   5' flanking X No variants X 5' UTR   c.-53C>T Exon 1 X No variants Intron 1X   c.74-29T>G   c.74-25G>T   c.74-7T>A Exon 2 X   R38M   E43K   L81V   T91A   A105=   D113N   L119=   R138Q   A140T   D154N   L155Q   W157R   S178= Intron 2X No variants Exon 3 X   T189M   T189=   F198L   P207A   A211= Intron 3X   c.647-18_647-16delTCT Exon 4 X   K225M   Q233*   R235C   T245M   L248R   P268S   H287Y   N289S   D291N   A292V   T294S   V298=   A301V   R311W   R334W   R334Q   L348V   L349F   H352R   W355*   D357A   I363F   H370Y   R373C   D382N   D382E   E383K   E383G   D390V   R391C   R393H   P397L   N414S   R426H   P427S   P427=   S431L   A432V   E441K   L456=   R459=   P463A   G464W   R468C   L469F   R471C   T476P   H480R   G481D   C483R   C483W   W490L   W490S   C495Y   H496L   E498_L500delinsV   E498D   L501P   E503=   S506Pfs*11   P507S   T510I   D512H   D512Y   D512V   M513T   M513R   H520Y   P527=   R541Sfs*38   R541W   R541P   L550V   L558_G559del   Y563H   R587C   R587R   T596=   E600K   E600A   H603R   T605P   T605N   A611=   A612T   A612V   E667K   P668L   N670K   T674I   F677L   L682F   R684W   R684Q   R702W   R703C   R713C   R713H   R716C   A725G   P727L   V733L   I740=   R744W   A755V   A758V   R760C   E778K   R790W   R791W   R791Q   V793M   V802=   Q809K   V816I   A1000T Intron 4X   c.2462+10A>C Exon 5 X   D824N   N825K   I836T   C842Y   E843K   A849V Intron 5X   c.2546+2dup   c.2547-11G>T Exon 6 X   N852S   N853S   M863V   A864T   F873= Intron 6X   c.2630+35T>A   c.2631-5T>C Exon 7 X   A885T   A885P   A886T   R896*   Q902K Intron 7X   c.2715-81G>A   c.2715-75G>A Exon 8 X   W907R   G908R   G908C   D913=   E914K   A918D   G924D Intron 8X   c.2798+158C>T Exon 9 X   V935M   I939V   I939=   V955I Intron 9X   c.2883-2A>G Exon 10 X   H966R   E970G   V972I   L975F   L975=   G978E Intron 10X No variants Exon 11 X   L1007Pfs*2 Intron 11X   c.3051-102C>G Exon 12 X   R1019*   R1019G   R1019L 3' UTR X   c.*9G>A   c.*375G>A   c.*873C>T   c.*982T>C   c.*1030T>C   c.*1200A>G 3' flanking X No variants