NLRP1 (NM_033004.4) sequence variants
(CARD7, CLR17.1, DEFCAP, DKFZp586O1822, KIAA0926, NAC, "nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 1", VAMAS1)

Editor(s): Seth MASTERS   

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Total current number of sequence variants for NLRP1 : 21

*Name as first published or submitted to Infevers. May be different from the HGVS edited protein and sequence names.

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

HGVS sequence name
HGVS protein name
Usual name*
Classification**
Status**
Simple variant
Complex alleles
exon 1
c.70T>C
p.(Phe24Leu)
F24L
Likely pathogenicTo be validated
 2023-08-24 
exon 1
c.160G>A
p.(Ala54Thr)
A54T
Likely pathogenicTo be validated
 2019-11-082022-06-02
exon 1
c.175G>C
p.(Ala59Pro)
A59P
Likely pathogenicTo be validated
 2020-01-28 
exon 1
c.197C>T
p.(Ala66Val)
A66V
Likely pathogenicTo be validated
 2019-11-082022-06-02
exon 1
c.230T>C
p.(Met77Thr)
M77T
Likely pathogenicTo be validated
 2018-10-012022-06-02
exon 2
c.412A>T
p.(Arg138Ter)
R138*
Uncertain significance (VUS)To be validated
 2024-03-06 
exon 4
c.868A>G
p.(Arg290Gly)
R290G
Likely benignTo be validated
 2024-03-06 
exon 4
c.1054G>T
p.(Gly352Trp)
G352W
Uncertain significance (VUS)To be validated
 2024-03-06 
exon 4
c.1998T>G
p.(Phe666Leu)
F666L
Uncertain significance (VUS)To be validated
 2024-03-06 
exon 4
c.2176C>T
p.(Arg726Trp)
R726W
Likely pathogenicTo be validated
 2018-10-012022-06-02
exon 4
c.2264C>A
p.(Thr755Asn)
T755N
Not classifiedTo be validated
 2019-11-08 
exon 5
c.2359_2529del
p.(Phe787_Arg843del)
F787_R843del
Likely pathogenicTo be validated
 2019-11-082022-06-02
exon 5
c.2438T>C
p.(Leu813Pro)
L813P
Likely pathogenicTo be validated
 2023-02-14 
exon 7
c.2803G>A
p.(Asp935Asn)
D935N
Likely benignTo be validated
 2024-03-06 
exon 12
c.3306C>G
p.(Phe1102Leu)
F1102L
Uncertain significance (VUS)To be validated
 2023-12-06 
exon 12
c.3325C>T
p.(Arg1109Cys)
R1109C
Likely benignTo be validated
 2024-03-06 
exon 13
c.3641C>T
p.(Pro1214Leu)
P1214L
Likely pathogenicTo be validated
 2021-05-272022-06-02
exon 13
c.3641C>G
p.(Pro1214Arg)
P1214R
PathogenicTo be validated
 2018-10-012022-06-02
exon 17
c.4151A>C
p.(Gln1384Pro)
Q1384P
Uncertain significance (VUS)To be validated
 2024-03-06 
exon 17
c.4260C>A
p.(Asn1420Lys)
N1420K
Likely benignTo be validated
 2024-03-05 
exon 17
c.4270A>T
p.(Ser1424Cys)
S1424C
Uncertain significance (VUS)To be validated
 2024-03-06