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   

Home Page Variants list Sequences Download Useful links Statistics Build your graph Contact Submit a novel sequence variant Submit a novel complex allele
ADA2ADAM17ALPK1AP1S3CARD14CDC42CEBPECOPAELF4F12HCK
IKBKGIL1R1IL1RNIL36RNLACC1LPIN2LYN
MEFVMVKNCSTNNLRC4NLRP1NLRP12NLRP3NLRP7NOD2OTULIN
PLCG1PLCG2PLD4POMPPSMA3PSMB10PSMB4PSMB8PSMB9PSMG2PSTPIP1
RBCK1RELARIPK1SAMD9LSH3BP2SLC29A3STING1
TBXAS1TLR7TNFAIP3TNFRSF11ATNFRSF1ATRAP1TRNT1UBA1UNC93B1WDR1

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Total current number of sequence variants for NLRP1 : 91

*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.5C>T
p.(Ala2Val)
A2V
Likely pathogenicTo be validated
 2025-11-252025-11-25
exon 1
c.10G>A
p.(Gly4Arg)
G4R
Uncertain significance (VUS)To be validated
 2025-11-252026-01-06
exon 1
c.58_60del
p.(Glu20del)
E20del
Likely pathogenicTo be validated
 2025-11-252025-11-25
exon 1
c.63_77del
p.(Lys22_Leu26del)
K22_L26del
Likely pathogenicTo be validated
 2025-11-252025-11-25
exon 1
c.70T>C
p.(Phe24Leu)
F24L
Likely pathogenicTo be validated
 2023-08-242026-01-06
exon 1
c.160G>A
p.(Ala54Thr)
A54T
Likely pathogenicTo be validated
 2019-11-082025-11-25
exon 1
c.175G>C
p.(Ala59Pro)
A59P
Likely pathogenicTo be validated
 2020-01-282025-11-25
exon 1
c.197C>T
p.(Ala66Val)
A66V
Likely pathogenicTo be validated
 2019-11-082025-11-25
exon 1
c.230T>C
p.(Met77Thr)
M77T
Likely pathogenicTo be validated
 2018-10-012025-11-25
exon 2
c.272G>A
p.(Gly91Asp)
G91D
Likely pathogenicTo be validated
 2025-11-252025-11-25
exon 2
c.316G>A
p.(Gly106Arg)
G106R
Likely benignTo be validated
 2025-08-212026-01-06
exon 2
c.356C>T
p.(Pro119Leu)
P119L
Likely pathogenicTo be validated
 2025-11-252025-11-25
exon 2
c.374C>T
p.(Pro125Leu)
P125L
Likely pathogenicTo be validated
 2025-11-252025-11-25
exon 2
c.411G>T
p.(Leu137Phe)
L137F
Uncertain significance (VUS)To be validated
 2025-11-25 
exon 2
c.412A>T
p.(Arg138Ter)
R138*
Uncertain significance (VUS)To be validated
 2024-03-062026-01-06
exon 4
c.663_666del
p.(Glu225Asnfs*13)
E225Nfs*13
Uncertain significance (VUS)To be validated
 2025-11-252026-01-06
exon 4
c.731C>T
p.(Ala244Val)
A244V
Uncertain significance (VUS)To be validated
 2025-11-25 
exon 4
c.736A>G
p.(Thr246Ala)
T246A
Likely benignTo be validated
 2025-08-212026-01-06
exon 4
c.822T>G
p.(Phe274Leu)
F274L
Likely benignTo be validated
 2025-08-212026-01-06
exon 4
c.868A>G
p.(Arg290Gly)
R290G
Likely benignTo be validated
 2024-03-062025-11-25
exon 4
c.1022C>T
p.(Ser341Leu)
S341L
Likely pathogenicTo be validated
 2025-11-252025-11-25
exon 4
c.1051T>G
p.(Trp351Gly)
W351G
Uncertain significance (VUS)To be validated
 2025-11-25 
exon 4
c.1054G>T
p.(Gly352Trp)
G352W
Uncertain significance (VUS)To be validated
 2024-03-062026-01-06
exon 4
c.1223T>C
p.(Ile408Thr)
I408T
Likely pathogenicTo be validated
 2025-11-252025-11-25
exon 4
c.1228G>C
p.(Asp410His)
D410H
Likely pathogenicTo be validated
 2025-11-252025-11-25
exon 4
c.1325G>A
p.(Ser442Asn)
S442N
Uncertain significance (VUS)To be validated
 2024-04-262026-01-06
exon 4
c.1375C>G
p.(Arg459Gly)
R459G
Likely pathogenicTo be validated
 2025-11-252025-11-25
exon 4
c.1376G>A
p.(Arg459Gln)
R459Q
Likely pathogenicTo be validated
 2025-11-252025-11-25
exon 4
c.1439G>A
p.(Gly480Glu)
G480E
Likely pathogenicTo be validated
 2025-11-252025-11-25
exon 4
c.1531A>G
p.(Lys511Glu)
K511E
Uncertain significance (VUS)To be validated
 2025-11-252026-01-06
exon 4
c.1580G>A
p.(Cys527Tyr)
C527Y
Likely pathogenicTo be validated
 2025-11-252025-11-25
exon 4
c.1607G>A
p.(Arg536Gln)
R536Q
Uncertain significance (VUS)To be validated
 2024-11-072026-01-06
exon 4
c.1658A>G
p.(His553Arg)
H553R
Uncertain significance (VUS)To be validated
 2025-11-252026-01-06
exon 4
c.1718C>G
p.(Ser573Cys)
S573C
Uncertain significance (VUS)To be validated
 2025-11-252026-01-06
exon 4
c.1733G>T
p.(Gly578Val)
G578V
Uncertain significance (VUS)To be validated
 2025-11-252026-01-06
exon 4
c.1817A>G
p.(Lys606Arg)
K606R
Uncertain significance (VUS)To be validated
 2025-11-25 
exon 4
c.1877T>C
p.(Phe626Ser)
F626S
Likely pathogenicTo be validated
 2025-11-252025-11-25
exon 4
c.1886T>G
p.(Phe629Cys)
F629C
Uncertain significance (VUS)To be validated
 2024-04-302026-01-06
exon 4
c.1930G>T
p.(Gly644Cys)
G644C
Uncertain significance (VUS)To be validated
 2025-11-252026-01-06
exon 4
c.1998T>G
p.(Phe666Leu)
F666L
Uncertain significance (VUS)To be validated
 2024-03-062026-01-06
exon 4
c.2009C>T
p.(Thr670Ile)
T670I
Likely benignTo be validated
 2025-08-212026-01-06
exon 4
c.2026G>A
p.(Gly676Ser)
G676S
Likely pathogenicTo be validated
 2025-11-252025-11-25
exon 4
c.2036G>A
p.(Ser679Asn)
S679N
Uncertain significance (VUS)To be validated
 2024-03-202026-01-06
exon 4
c.2040_2042dup
p.(Asp680dup)
D680dup
Likely pathogenicTo be validated
 2025-11-252025-11-25
exon 4
c.2056A>G
p.(Met686Val)
M686V
Likely benignTo be validated
 2025-08-212026-01-06
exon 4
c.2170G>A
p.(Glu724Lys)
E724K
Likely pathogenicTo be validated
 2025-11-252025-11-25
exon 4
c.2176C>T
p.(Arg726Trp)
R726W
Likely pathogenicTo be validated
 2018-10-012025-11-25
exon 4
c.2205G>A
p.(Met735Ile)
M735I
Likely pathogenicTo be validated
 2025-11-252025-11-25
exon 4
c.2264C>A
p.(Thr755Asn)
T755N
Not classifiedTo be validated
 2019-11-082025-11-25
exon 4
c.2290G>T
p.(Val764Leu)
V764L
Uncertain significance (VUS)To be validated
 2025-11-252026-01-06
exon 4
c.2335T>C
p.(Trp779Arg)
W779R
Uncertain significance (VUS)To be validated
 2025-11-25 
exon 4
c.2341C>A
p.(Pro781Thr)
P781T
Uncertain significance (VUS)To be validated
 2025-11-252026-01-06
exon 5
c.2359_2529del
p.(Phe787_Arg843del)
F787_R843del
Likely pathogenicTo be validated
 2019-11-082025-11-25
exon 5
c.2368G>A
p.(Val790Ile)
V790I
Uncertain significance (VUS)To be validated
 2025-11-25 
exon 5
c.2438T>C
p.(Leu813Pro)
L813P
Likely pathogenicTo be validated
 2023-02-142025-11-25
exon 5
c.2463C>G
p.(Ser821Arg)
S821R
Uncertain significance (VUS)To be validated
 2025-11-252026-01-06
exon 5
c.2478G>C
p.(Lys826Asn)
K826N
Uncertain significance (VUS)To be validated
 2024-10-252026-01-06
exon 5
c.2510G>A
p.(Cys837Tyr)
C837Y
Likely pathogenicTo be validated
 2025-11-252025-11-25
exon 5
c.2528G>A
p.(Arg843Gln)
R843Q
Uncertain significance (VUS)To be validated
 2025-11-252026-01-06
exon 6
c.2605G>A
p.(Glu869Lys)
E869K
Likely benignTo be validated
 2025-11-252026-01-06
exon 6
c.2675C>T
p.(Pro892Leu)
P892L
Uncertain significance (VUS)To be validated
 2025-11-252026-01-06
exon 7
c.2743G>A
p.(Ala915Thr)
A915T
Uncertain significance (VUS)To be validated
 2025-11-252026-01-06
exon 7
c.2803G>A
p.(Asp935Asn)
D935N
Likely benignTo be validated
 2024-03-062026-01-06
exon 7
c.2818C>T
p.(Arg940*)
R940*
Uncertain significance (VUS)To be validated
 2025-11-252026-01-06
exon 7
c.2841G>C
p.(Arg947Ser)
R947S
Uncertain significance (VUS)To be validated
 2025-11-252026-01-06
exon 8
c.2882C>A
p.(Thr961Lys)
T961K
Uncertain significance (VUS)To be validated
 2025-11-25 
exon 8
c.2900T>A
p.(Met967Lys)
M967K
Uncertain significance (VUS)To be validated
 2025-11-25 
exon 12
c.3306C>G
p.(Phe1102Leu)
F1102L
Uncertain significance (VUS)To be validated
 2023-12-062026-01-06
exon 12
c.3317G>A
p.(Gly1106Asp)
G1106D
Uncertain significance (VUS)To be validated
 2025-11-25 
exon 12
c.3325C>T
p.(Arg1109Cys)
R1109C
Likely benignTo be validated
 2024-03-062026-01-06
exon 12
c.3326G>A
p.(Arg1109His)
R1109H
Uncertain significance (VUS)To be validated
 2025-11-252026-01-06
exon 12
c.3402G>C
p.(Gln1134His)
Q1134H
Uncertain significance (VUS)To be validated
 2025-11-25 
exon 12
c.3511G>C
p.(Ala1171Pro)
A1171P
Likely pathogenicTo be validated
 2025-11-252025-11-25
exon 13
c.3523G>C
p.(Gly1175Arg)
G1175R
Uncertain significance (VUS)To be validated
 2025-11-25 
exon 13
c.3568G>A
p.(Glu1190Lys)
E1190K
Likely pathogenicTo be validated
 2025-11-252025-11-25
exon 13
c.3641C>T
p.(Pro1214Leu)
P1214L
Likely pathogenicTo be validated
 2021-05-272025-11-25
exon 13
c.3641C>G
p.(Pro1214Arg)
P1214R
PathogenicTo be validated
 2018-10-012025-11-25
exon 13
c.3718C>T
p.(Arg1240Cys)
R1240C
Uncertain significance (VUS)To be validated
 2025-11-25 
exon 13
c.3721G>A
p.(Val1241Ile)
V1241I
Likely benignTo be validated
 2025-08-212026-01-06
exon 13
c.3780del
p.(Lys1261ArgfsTer3)
K1261Rfs*3
Uncertain significance (VUS)To be validated
 2025-11-252026-01-06
exon 14
c.3788T>C
p.(Ile1263Thr)
I1263T
Uncertain significance (VUS)To be validated
 2025-10-282026-01-06
exon 14
c.3850C>A
p.(Leu1284Ile)
L1284I
Uncertain significance (VUS)To be validated
 2025-11-25 
exon 14
c.3867_3869del
p.(Tyr1290del)
Y1290del
Uncertain significance (VUS)To be validated
 2025-11-25 
exon 15
c.3922G>C
p.(Glu1308Gln)
E1308Q
Uncertain significance (VUS)To be validated
 2025-11-252026-01-06
exon 17
c.4151A>C
p.(Gln1384Pro)
Q1384P
Uncertain significance (VUS)To be validated
 2024-03-062025-11-25
exon 17
c.4175G>A
p.(Arg1392Gln)
R1392Q
Uncertain significance (VUS)To be validated
 2025-11-252026-01-06
exon 17
c.4187T>C
p.(Val1396Ala)
V1396A
Uncertain significance (VUS)To be validated
 2025-11-252026-01-06
exon 17
c.4260C>A
p.(Asn1420Lys)
N1420K
Likely benignTo be validated
 2024-03-052026-01-06
exon 17
c.4270A>T
p.(Ser1424Cys)
S1424C
Uncertain significance (VUS)To be validated
 2024-03-062026-01-06
exon 17
c.4292G>T
p.(Ser1431Ile)
S1431I
Uncertain significance (VUS)To be validated
 2025-11-252026-01-06
exon 17
c.4399G>A
p.(Gly1467Arg)
G1467R
Uncertain significance (VUS)To be validated
 2025-11-25