NLRP12 (NM_144687.2) sequence variants
(NALP12/PYPAF7/CLR19.3/PAN6/RNO2/Monarch-1)

Editor(s): Isabelle JERU   

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Total current number of sequence variants for NLRP12 : 39

* If you have new data: please send us a re-evaluation proposal here

HGVS sequence name
HGVS protein name
Classification *
Status *
Simple variant
Complex alleles
5UTc.-140T>A-Not classifiedTo be validated
 2009-12-10
5UTc.-12C>T-Not classifiedTo be validated
 2009-12-10
exon 1c.116G>Tp.(Gly39Val)Not classifiedTo be validated
 2009-12-10
exon 1c.154G>A p.(Gly52Ser)Not classifiedTo be validated
 2014-10-06
intron 1c.289+6G>C-Not classifiedTo be validated
 2012-03-13
intron 1c.289+18C>T-Not classifiedTo be validated
 2009-12-10
intron 2c.371-43C>T-Not classifiedTo be validated
 2009-12-10
exon 3c.424G>Ap.(Asp142Asn)Not classifiedTo be validated
 2008-08-21
exon 3c.536C>Tp.(Thr179Ile)Not classifiedTo be validated
 2019-02-26
exon 3c.609C>Tp.(=)Not classifiedTo be validated
 2008-08-21
exon 3c.779C>Tp.(Thr260Met)Likely pathogenicTo be validated
 2011-01-28
exon 3c.819T>Cp.(=)Not classifiedTo be validated
 2009-12-10
exon 3c.850C>Tp.(Arg284*)Not classifiedTo be validated
 2008-03-04
exon 3c.882C>Gp.(Asp294Glu)Not classifiedTo be validated
 2010-12-07
exon 3c.910C>Tp.(His304Tyr)Not classifiedTo be validated
 2010-12-07
exon 3c.956C>Gp.(Pro319Arg)Not classifiedTo be validated
 2008-08-21
exon 3c.1022C>Tp.(Thr341Ile)Not classifiedTo be validated
 2018-07-31
exon 3c.1054C>Tp.(Arg352Cys)Not classifiedTo be validated
 2011-02-07
exon 3c.1109G>Ap.(Arg370Lys)Uncertain significance (VOUS)To be validated
 2019-03-27
exon 3c.1206C>Gp.(Phe402Leu)Not classifiedTo be validated
 2008-03-04
exon 3c.1343G>Cp.(Gly448Ala)Not classifiedTo be validated
 2008-08-21
exon 3c.1886C>Ap.(Ala629Asp)Not classifiedTo be validated
 2014-07-30
exon 3c.2047G>Ap.(Gly683Arg)Not classifiedTo be validated
 2013-05-30
intron 3c.2072+2dupT-Not classifiedTo be validated
 2008-03-04
intron 4c.2243+35C>T-Not classifiedTo be validated
 2009-12-10
exon 5c.2357G>Tp.(Gly786Val)Not classifiedTo be validated
 2018-12-05
exon 5c.2394G>Ap.(=)Not classifiedTo be validated
 2009-12-10
exon 6c.2469C>Ap.(=)Not classifiedTo be validated
 2009-12-10
exon 6c.2469C>Tp.(=)Not classifiedTo be validated
 2009-12-10
exon 7c.2701G>Cp.(Val901Leu)Not classifiedTo be validated
 2009-12-10
exon 7c.2754G>Cp.(=)Not classifiedTo be validated
 2009-12-10
intron 7c.2757-1G>T-Not classifiedTo be validated
 2013-01-30
exon 8c.2784C>Tp.(=)Not classifiedTo be validated
 2009-12-10
exon 8c.2830C>Ap.(=)Not classifiedTo be validated
 2009-12-10
exon 8c.2877G>Ap.(Trp959*)Not classifiedTo be validated
 2015-12-28
exon 9c.2988C>Ap.(=)Not classifiedTo be validated
 2009-12-10
exon 9c.3046C>Tp.(Arg1016*)Not classifiedTo be validated
 2009-12-10
intron 9c.3098+99G>A-Not classifiedTo be validated
 2009-12-10
intron 9c.3099-33A>G-Not classifiedTo be validated
 2009-12-10