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Items: 1 to 100 of 244

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)		Review status
1.
GRCh37:
Chr1:247588244
GRCh38:
Chr1:247424942
NLRP3S498C, S500CFamilial cold autoinflammatory syndrome 1Uncertain significance
(Jan 12, 2023)		criteria provided, single submitter
2.
GRCh37:
Chr1:247607422
GRCh38:
Chr1:247444120
NLRP3D824N, D881N, D938N, D940NHearing loss, autosomal dominant 34, with or without inflammation, Chronic infantile neurological, cutaneous and articular syndrome, Familial amyloid nephropathy with urticaria AND deafness,
Keratitis fugax hereditaria, Familial cold autoinflammatory syndrome 1, Autoinflammatory syndrome
Uncertain significance
(Aug 23, 2021)		criteria provided, multiple submitters, no conflicts
3.
GRCh37:
Chr1:247588809
GRCh38:
Chr1:247425507
NLRP3Cryopyrin associated periodic syndrome, Chronic infantile neurological, cutaneous and articular syndrome, Keratitis fugax hereditaria,
Familial cold autoinflammatory syndrome 1, Familial amyloid nephropathy with urticaria AND deafness, Hearing loss, autosomal dominant 34, with or without inflammation
Likely benign
(Mar 28, 2022)		criteria provided, multiple submitters, no conflicts
4.
GRCh37:
Chr1:247588672
GRCh38:
Chr1:247425370
NLRP3V641M, V643MKeratitis fugax hereditaria, Chronic infantile neurological, cutaneous and articular syndrome, Hearing loss, autosomal dominant 34, with or without inflammation,
Familial cold autoinflammatory syndrome 1, Familial amyloid nephropathy with urticaria AND deafness, Cryopyrin associated periodic syndrome
Uncertain significance
(Mar 13, 2022)		criteria provided, multiple submitters, no conflicts
5.
GRCh37:
Chr1:247599309
GRCh38:
Chr1:247436007
NLRP3D844Y, D787Y, D846YCryopyrin associated periodic syndrome, Familial amyloid nephropathy with urticaria AND deafness, Chronic infantile neurological, cutaneous and articular syndrome,
Hearing loss, autosomal dominant 34, with or without inflammation, Keratitis fugax hereditaria, Familial cold autoinflammatory syndrome 1
Uncertain significance
(Feb 8, 2022)		criteria provided, multiple submitters, no conflicts
6.
GRCh37:
Chr1:247597425
GRCh38:
Chr1:247434123
NLRP3S724L, S781L, S783LChronic infantile neurological, cutaneous and articular syndrome, Familial amyloid nephropathy with urticaria AND deafness, Hearing loss, autosomal dominant 34, with or without inflammation,
Keratitis fugax hereditaria, Familial cold autoinflammatory syndrome 1, Cryopyrin associated periodic syndrome
Uncertain significance
(May 25, 2022)		criteria provided, multiple submitters, no conflicts
7.
GRCh37:
Chr1:247597413
GRCh38:
Chr1:247434111
NLRP3R777H, R779H, R720HChronic infantile neurological, cutaneous and articular syndrome, Familial amyloid nephropathy with urticaria AND deafness, Hearing loss, autosomal dominant 34, with or without inflammation,
Keratitis fugax hereditaria, Familial cold autoinflammatory syndrome 1, Cryopyrin associated periodic syndrome,
not provided		Uncertain significance
(Aug 9, 2022)		criteria provided, multiple submitters, no conflicts
8.
GRCh37:
Chr1:247593009
GRCh38:
Chr1:247429707
NLRP3V758A, V760Anot provided, Chronic infantile neurological, cutaneous and articular syndrome, Familial amyloid nephropathy with urticaria AND deafness,
Familial cold autoinflammatory syndrome 1, Hearing loss, autosomal dominant 34, with or without inflammation, Keratitis fugax hereditaria,
Cryopyrin associated periodic syndrome		Uncertain significance
(Jul 20, 2022)		criteria provided, multiple submitters, no conflicts
9.
GRCh37:
Chr1:247597470
GRCh38:
Chr1:247434168
NLRP3Q739R, Q798R, Q796RChronic infantile neurological, cutaneous and articular syndrome, Keratitis fugax hereditaria, Familial cold autoinflammatory syndrome 1,
Hearing loss, autosomal dominant 34, with or without inflammation, Familial amyloid nephropathy with urticaria AND deafness, Cryopyrin associated periodic syndrome
Uncertain significance
(Feb 8, 2022)		criteria provided, multiple submitters, no conflicts
10.
GRCh37:
Chr1:247593021
GRCh38:
Chr1:247429719
NLRP3T762M, T764MCryopyrin associated periodic syndrome, Chronic infantile neurological, cutaneous and articular syndrome, Keratitis fugax hereditaria,
Familial cold autoinflammatory syndrome 1, Hearing loss, autosomal dominant 34, with or without inflammation, Familial amyloid nephropathy with urticaria AND deafness
Uncertain significance
(Feb 17, 2022)		criteria provided, multiple submitters, no conflicts
11.
GRCh37:
Chr1:247586583
GRCh38:
Chr1:247423281
NLRP3S110N, S112NChronic infantile neurological, cutaneous and articular syndrome, Hearing loss, autosomal dominant 34, with or without inflammation, Familial amyloid nephropathy with urticaria AND deafness,
Familial cold autoinflammatory syndrome 1, Keratitis fugax hereditaria, not provided,
Cryopyrin associated periodic syndrome, Autoinflammatory syndrome		Uncertain significance
(Aug 12, 2022)		criteria provided, multiple submitters, no conflicts
12.
GRCh37:
Chr1:247582271
GRCh38:
Chr1:247418969
NLRP3I57V, I59VChronic infantile neurological, cutaneous and articular syndrome, Hearing loss, autosomal dominant 34, with or without inflammation, Familial amyloid nephropathy with urticaria AND deafness,
Familial cold autoinflammatory syndrome 1, Keratitis fugax hereditaria, not provided
Uncertain significance
(Feb 9, 2022)		criteria provided, multiple submitters, no conflicts
13.
GRCh37:
Chr1:247588917
GRCh38:
Chr1:247425615
NLRP3Familial cold autoinflammatory syndrome 1, Keratitis fugax hereditaria, Chronic infantile neurological, cutaneous and articular syndrome,
Familial amyloid nephropathy with urticaria AND deafness, Hearing loss, autosomal dominant 34, with or without inflammation, not provided,
Cryopyrin associated periodic syndrome		Benign/Likely benign
(Mar 30, 2022)		criteria provided, multiple submitters, no conflicts
14.
GRCh37:
Chr1:247599354
GRCh38:
Chr1:247436052
NLRP3Y802H, Y859H, Y861HFamilial amyloid nephropathy with urticaria AND deafness, Familial cold autoinflammatory syndrome 1, Keratitis fugax hereditaria,
Hearing loss, autosomal dominant 34, with or without inflammation, Chronic infantile neurological, cutaneous and articular syndrome, not provided
Likely pathogenic
(Nov 4, 2022)		criteria provided, multiple submitters, no conflicts
15.
GRCh37:
Chr1:247588374
GRCh38:
Chr1:247425072
NLRP3Chronic infantile neurological, cutaneous and articular syndrome, Familial amyloid nephropathy with urticaria AND deafness, Familial cold autoinflammatory syndrome 1,
Hearing loss, autosomal dominant 34, with or without inflammation, Keratitis fugax hereditaria, Cryopyrin associated periodic syndrome
Benign/Likely benign
(Oct 9, 2022)		criteria provided, multiple submitters, no conflicts
16.
GRCh37:
Chr1:247582249
GRCh38:
Chr1:247418947
NLRP3Cryopyrin associated periodic syndrome, Keratitis fugax hereditaria, Familial amyloid nephropathy with urticaria AND deafness,
Chronic infantile neurological, cutaneous and articular syndrome, Hearing loss, autosomal dominant 34, with or without inflammation, Familial cold autoinflammatory syndrome 1
Likely benign
(May 18, 2022)		criteria provided, multiple submitters, no conflicts
17.
GRCh37:
Chr1:247607319
GRCh38:
Chr1:247444017
NLRP3Cryopyrin associated periodic syndrome, not provided, Familial cold autoinflammatory syndrome 1,
Chronic infantile neurological, cutaneous and articular syndrome, Hearing loss, autosomal dominant 34, with or without inflammation, Keratitis fugax hereditaria,
Familial amyloid nephropathy with urticaria AND deafness		Benign/Likely benign
(Feb 15, 2022)		criteria provided, multiple submitters, no conflicts
18.
GRCh37:
Chr1:247587909
GRCh38:
Chr1:247424607
NLRP3D386E, D388ECryopyrin associated periodic syndrome, Chronic infantile neurological, cutaneous and articular syndrome, Familial cold autoinflammatory syndrome 1,
Familial amyloid nephropathy with urticaria AND deafness		Uncertain significance
(Feb 25, 2022)		criteria provided, multiple submitters, no conflicts
19.
GRCh37:
Chr1:247588122
GRCh38:
Chr1:247424820
NLRP3E457D, E459DCryopyrin associated periodic syndrome, Hearing loss, autosomal dominant 34, with or without inflammation, Chronic infantile neurological, cutaneous and articular syndrome,
Keratitis fugax hereditaria, Familial amyloid nephropathy with urticaria AND deafness, Familial cold autoinflammatory syndrome 1
Conflicting interpretations of pathogenicity
(Oct 4, 2022)		criteria provided, conflicting interpretations
20.
GRCh37:
Chr1:247607290
GRCh38:
Chr1:247443988
NLRP3L780F, L837F, L894F, L896FCryopyrin associated periodic syndrome, Chronic infantile neurological, cutaneous and articular syndrome, Familial cold autoinflammatory syndrome 1,
Keratitis fugax hereditaria, Hearing loss, autosomal dominant 34, with or without inflammation, Familial amyloid nephropathy with urticaria AND deafness
Uncertain significance
(Jul 27, 2022)		criteria provided, multiple submitters, no conflicts
21.
GRCh37:
Chr1:247586657
GRCh38:
Chr1:247423355
NLRP3Cryopyrin associated periodic syndrome, Keratitis fugax hereditaria, Familial cold autoinflammatory syndrome 1,
Chronic infantile neurological, cutaneous and articular syndrome, Familial amyloid nephropathy with urticaria AND deafness, Hearing loss, autosomal dominant 34, with or without inflammation,
Autoinflammatory syndrome		Uncertain significance
(Dec 21, 2021)		criteria provided, multiple submitters, no conflicts
22.
GRCh37:
Chr1:247607974
GRCh38:
Chr1:247444672
NLRP3Familial amyloid nephropathy with urticaria AND deafness, Chronic infantile neurological, cutaneous and articular syndrome, Keratitis fugax hereditaria,
Familial cold autoinflammatory syndrome 1, Hearing loss, autosomal dominant 34, with or without inflammation, Cryopyrin associated periodic syndrome,
not provided		Likely benign
(Mar 22, 2022)		criteria provided, multiple submitters, no conflicts
23.
GRCh37:
Chr1:247608030
GRCh38:
Chr1:247444728
NLRP3K857T, K914T, K971T, K973TKeratitis fugax hereditaria, Familial amyloid nephropathy with urticaria AND deafness, Familial cold autoinflammatory syndrome 1,
Hearing loss, autosomal dominant 34, with or without inflammation, Chronic infantile neurological, cutaneous and articular syndrome, Cryopyrin associated periodic syndrome
Uncertain significance
(Dec 23, 2021)		criteria provided, multiple submitters, no conflicts
24.
GRCh37:
Chr1:247597419
GRCh38:
Chr1:247434117
NLRP3G722D, G779D, G781DFamilial amyloid nephropathy with urticaria AND deafness, Familial cold autoinflammatory syndrome 1, Hearing loss, autosomal dominant 34, with or without inflammation,
Keratitis fugax hereditaria, Chronic infantile neurological, cutaneous and articular syndrome, Cryopyrin associated periodic syndrome,
not provided		Uncertain significance
(Jun 27, 2022)		criteria provided, multiple submitters, no conflicts
25.
GRCh37:
Chr1:247588669
GRCh38:
Chr1:247425367
NLRP3F640V, F642VCryopyrin associated periodic syndrome, Keratitis fugax hereditaria, Hearing loss, autosomal dominant 34, with or without inflammation,
Chronic infantile neurological, cutaneous and articular syndrome, Familial amyloid nephropathy with urticaria AND deafness, Familial cold autoinflammatory syndrome 1
Uncertain significance
(May 27, 2022)		criteria provided, multiple submitters, no conflicts
26.
GRCh37:
Chr1:247592980
GRCh38:
Chr1:247429678
NLRP3D748E, D750EHearing loss, autosomal dominant 34, with or without inflammation, Familial amyloid nephropathy with urticaria AND deafness, Chronic infantile neurological, cutaneous and articular syndrome,
Keratitis fugax hereditaria, Familial cold autoinflammatory syndrome 1, Cryopyrin associated periodic syndrome
Uncertain significance
(Aug 14, 2022)		criteria provided, multiple submitters, no conflicts
27.
GRCh37:
Chr1:247587841
GRCh38:
Chr1:247424539
NLRP3Hearing loss, autosomal dominant 34, with or without inflammation, Familial amyloid nephropathy with urticaria AND deafness, Chronic infantile neurological, cutaneous and articular syndrome,
Keratitis fugax hereditaria, Familial cold autoinflammatory syndrome 1, Cryopyrin associated periodic syndrome
Conflicting interpretations of pathogenicity
(Sep 1, 2022)		criteria provided, conflicting interpretations
28.
GRCh37:
Chr1:247587315
GRCh38:
Chr1:247424013
NLRP3Hearing loss, autosomal dominant 34, with or without inflammation, Familial amyloid nephropathy with urticaria AND deafness, Chronic infantile neurological, cutaneous and articular syndrome,
Keratitis fugax hereditaria, Familial cold autoinflammatory syndrome 1, Cryopyrin associated periodic syndrome
Conflicting interpretations of pathogenicity
(Jul 26, 2022)		criteria provided, conflicting interpretations
29.
GRCh37:
Chr1:247608100
GRCh38:
Chr1:247444798
NLRP3Q880H, Q996H, Q937H, Q994HFamilial amyloid nephropathy with urticaria AND deafness, Hearing loss, autosomal dominant 34, with or without inflammation, Chronic infantile neurological, cutaneous and articular syndrome,
Keratitis fugax hereditaria, Familial cold autoinflammatory syndrome 1, Cryopyrin associated periodic syndrome,
not provided		Uncertain significance
(Oct 7, 2022)		criteria provided, multiple submitters, no conflicts
30.
GRCh37:
Chr1:247607296
GRCh38:
Chr1:247443994
NLRP3S782P, S896P, S898P, S839PFamilial amyloid nephropathy with urticaria AND deafness, Keratitis fugax hereditaria, Chronic infantile neurological, cutaneous and articular syndrome,
Familial cold autoinflammatory syndrome 1, Hearing loss, autosomal dominant 34, with or without inflammation, not provided,
Cryopyrin associated periodic syndrome		Conflicting interpretations of pathogenicity
(Nov 1, 2022)		criteria provided, conflicting interpretations
31.
GRCh37:
Chr1:247612237
GRCh38:
Chr1:247448935
NLRP3Chronic infantile neurological, cutaneous and articular syndrome, Familial cold autoinflammatory syndrome 1, Familial amyloid nephropathy with urticaria AND deafness
Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
32.
GRCh37:
Chr1:247587715
GRCh38:
Chr1:247424413
NLRP3K324E, K322EChronic infantile neurological, cutaneous and articular syndrome, Familial amyloid nephropathy with urticaria AND deafness, Familial cold autoinflammatory syndrome 1
Uncertain significance
(Apr 27, 2017)		criteria provided, single submitter
33.
GRCh37:
Chr1:247587227
GRCh38:
Chr1:247423925
NLRP3S161I, S159IChronic infantile neurological, cutaneous and articular syndrome, Familial amyloid nephropathy with urticaria AND deafness, Cryopyrin associated periodic syndrome,
Familial cold autoinflammatory syndrome 1		Conflicting interpretations of pathogenicity
(Oct 6, 2022)		criteria provided, conflicting interpretations
34.
GRCh37:
Chr1:247581764
GRCh38:
Chr1:247418462
NLRP3Chronic infantile neurological, cutaneous and articular syndrome, Familial amyloid nephropathy with urticaria AND deafness, Familial cold autoinflammatory syndrome 1
Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
35.
GRCh37:
Chr1:247581734
GRCh38:
Chr1:247418432
NLRP3Chronic infantile neurological, cutaneous and articular syndrome, Familial amyloid nephropathy with urticaria AND deafness, Familial cold autoinflammatory syndrome 1
Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
36.
GRCh37:
Chr1:247581417
GRCh38:
Chr1:247418115
NLRP3Familial amyloid nephropathy with urticaria AND deafness, Familial cold autoinflammatory syndrome 1, Chronic infantile neurological, cutaneous and articular syndrome
Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
37.
GRCh37:
Chr1:247612184
GRCh38:
Chr1:247448882
NLRP3Familial cold autoinflammatory syndrome 1, Familial amyloid nephropathy with urticaria AND deafness, Chronic infantile neurological, cutaneous and articular syndrome
Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
38.
GRCh37:
Chr1:247599377
GRCh38:
Chr1:247436075
NLRP3Familial amyloid nephropathy with urticaria AND deafness, Familial cold autoinflammatory syndrome 1, Chronic infantile neurological, cutaneous and articular syndrome
Benign
(Jan 12, 2018)		criteria provided, single submitter
39.
GRCh37:
Chr1:247587134
GRCh38:
Chr1:247423832
NLRP3Familial cold autoinflammatory syndrome 1, Familial amyloid nephropathy with urticaria AND deafness, Cryopyrin associated periodic syndrome,
Chronic infantile neurological, cutaneous and articular syndrome, not provided		Benign
(Aug 2, 2022)		criteria provided, multiple submitters, no conflicts
40.
GRCh37:
Chr1:247582224
GRCh38:
Chr1:247418922
NLRP3R43K, R41KFamilial amyloid nephropathy with urticaria AND deafness, Chronic infantile neurological, cutaneous and articular syndrome, Familial cold autoinflammatory syndrome 1,
Chronic infantile neurological, cutaneous and articular syndrome, Keratitis fugax hereditaria, Familial amyloid nephropathy with urticaria AND deafness,
Familial cold autoinflammatory syndrome 1, Hearing loss, autosomal dominant 34, with or without inflammation		Uncertain significance
(Sep 15, 2021)		criteria provided, multiple submitters, no conflicts
41.
GRCh37:
Chr1:247581696
GRCh38:
Chr1:247418394
NLRP3Familial amyloid nephropathy with urticaria AND deafness, Familial cold autoinflammatory syndrome 1, Chronic infantile neurological, cutaneous and articular syndrome
Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
42.
GRCh37:
Chr1:247611945
GRCh38:
Chr1:247448643
NLRP3Chronic infantile neurological, cutaneous and articular syndrome, Familial amyloid nephropathy with urticaria AND deafness, Familial cold autoinflammatory syndrome 1
Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
43.
GRCh37:
Chr1:247597516
GRCh38:
Chr1:247434214
NLRP3Familial amyloid nephropathy with urticaria AND deafness, Familial cold autoinflammatory syndrome 1, Cryopyrin associated periodic syndrome,
Chronic infantile neurological, cutaneous and articular syndrome		Benign/Likely benign
(Jul 3, 2022)		criteria provided, multiple submitters, no conflicts
44.
GRCh37:
Chr1:247588531
GRCh38:
Chr1:247425229
NLRP3Familial amyloid nephropathy with urticaria AND deafness, Familial cold autoinflammatory syndrome 1, Cryopyrin associated periodic syndrome,
Chronic infantile neurological, cutaneous and articular syndrome		Conflicting interpretations of pathogenicity
(Aug 9, 2022)		criteria provided, conflicting interpretations
45.
GRCh37:
Chr1:247586546
GRCh38:
Chr1:247423244
NLRP3R100G, R98GFamilial cold autoinflammatory syndrome 1, Familial amyloid nephropathy with urticaria AND deafness, Cryopyrin associated periodic syndrome,
Chronic infantile neurological, cutaneous and articular syndrome		Uncertain significance
(Oct 23, 2022)		criteria provided, multiple submitters, no conflicts
46.
GRCh37:
Chr1:247581580
GRCh38:
Chr1:247418278
NLRP3Familial amyloid nephropathy with urticaria AND deafness, Familial cold autoinflammatory syndrome 1, Chronic infantile neurological, cutaneous and articular syndrome
Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
47.
GRCh37:
Chr1:247611922
GRCh38:
Chr1:247448620
NLRP3Familial cold autoinflammatory syndrome 1, Familial amyloid nephropathy with urticaria AND deafness, Chronic infantile neurological, cutaneous and articular syndrome
Benign
(Jan 13, 2018)		criteria provided, single submitter
48.
GRCh37:
Chr1:247611808
GRCh38:
Chr1:247448506
NLRP3Familial cold autoinflammatory syndrome 1, Familial amyloid nephropathy with urticaria AND deafness, Chronic infantile neurological, cutaneous and articular syndrome
Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
49.
GRCh37:
Chr1:247592991
GRCh38:
Chr1:247429689
NLRP3G752E, G754EFamilial cold autoinflammatory syndrome 1, Familial amyloid nephropathy with urticaria AND deafness, Chronic infantile neurological, cutaneous and articular syndrome
Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
50.
GRCh37:
Chr1:247587316
GRCh38:
Chr1:247424014
NLRP3G189S, G191SFamilial amyloid nephropathy with urticaria AND deafness, Familial cold autoinflammatory syndrome 1, Cryopyrin associated periodic syndrome,
Chronic infantile neurological, cutaneous and articular syndrome		Uncertain significance
(Aug 14, 2021)		criteria provided, multiple submitters, no conflicts
51.
GRCh37:
Chr1:247582336
GRCh38:
Chr1:247419034
NLRP3Familial amyloid nephropathy with urticaria AND deafness, Familial cold autoinflammatory syndrome 1, Chronic infantile neurological, cutaneous and articular syndrome
Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
52.
GRCh37:
Chr1:247581884
GRCh38:
Chr1:247418582
NLRP3Familial amyloid nephropathy with urticaria AND deafness, Familial cold autoinflammatory syndrome 1, Chronic infantile neurological, cutaneous and articular syndrome
Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
53.
GRCh37:
Chr1:247588394
GRCh38:
Chr1:247425092
NLRP3R550H, R548HFamilial cold autoinflammatory syndrome 1, Hearing loss, autosomal dominant 34, with or without inflammation, Chronic infantile neurological, cutaneous and articular syndrome,
Keratitis fugax hereditaria, Familial amyloid nephropathy with urticaria AND deafness, Cryopyrin associated periodic syndrome,
Inborn genetic diseases		Uncertain significance
(Feb 28, 2023)		criteria provided, multiple submitters, no conflicts
54.
GRCh37:
Chr1:247593006
GRCh38:
Chr1:247429704
NLRP3R757T, R759TKeratitis fugax hereditaria, Hearing loss, autosomal dominant 34, with or without inflammation, Chronic infantile neurological, cutaneous and articular syndrome,
Familial amyloid nephropathy with urticaria AND deafness, Familial cold autoinflammatory syndrome 1, not provided,
Cryopyrin associated periodic syndrome		Uncertain significance
(Aug 11, 2022)		criteria provided, multiple submitters, no conflicts
55.
GRCh37:
Chr1:247587154
GRCh38:
Chr1:247423852
NLRP3R137C, R135CKeratitis fugax hereditaria, Hearing loss, autosomal dominant 34, with or without inflammation, Chronic infantile neurological, cutaneous and articular syndrome,
Familial amyloid nephropathy with urticaria AND deafness, Familial cold autoinflammatory syndrome 1, Cryopyrin associated periodic syndrome
Uncertain significance
(Aug 30, 2022)		criteria provided, multiple submitters, no conflicts
56.
GRCh37:
Chr1:247587904
GRCh38:
Chr1:247424602
NLRP3S385A, S387AFamilial amyloid nephropathy with urticaria AND deafness, Familial cold autoinflammatory syndrome 1, Hearing loss, autosomal dominant 34, with or without inflammation,
Chronic infantile neurological, cutaneous and articular syndrome, Keratitis fugax hereditaria, Cryopyrin associated periodic syndrome,
not provided		Uncertain significance
(Jan 3, 2023)		criteria provided, multiple submitters, no conflicts
57.
GRCh37:
Chr1:247607445
GRCh38:
Chr1:247444143
NLRP3Familial amyloid nephropathy with urticaria AND deafness, Familial cold autoinflammatory syndrome 1, Hearing loss, autosomal dominant 34, with or without inflammation,
Keratitis fugax hereditaria, Chronic infantile neurological, cutaneous and articular syndrome, Familial amyloid nephropathy with urticaria AND deafness,
Familial cold autoinflammatory syndrome 1, Chronic infantile neurological, cutaneous and articular syndrome		Uncertain significance
(Mar 30, 2021)		criteria provided, single submitter
58.
GRCh37:
Chr1:247608069
GRCh38:
Chr1:247444767
NLRP3V986D, V984D, V870D, V927DFamilial amyloid nephropathy with urticaria AND deafness, Familial cold autoinflammatory syndrome 1, not provided
Uncertain significance
(Mar 26, 2021)		criteria provided, multiple submitters, no conflicts
59.
GRCh37:
Chr1:247582462-247582464
GRCh38:
Chr1:247419160-247419162
NLRP3Familial cold autoinflammatory syndrome 1Benign
(May 28, 2019)		criteria provided, single submitter
60.
GRCh37:
Chr1:247588191
GRCh38:
Chr1:247424889
NLRP3Familial cold autoinflammatory syndrome 1, Familial amyloid nephropathy with urticaria AND deafness, Chronic infantile neurological, cutaneous and articular syndrome,
Cryopyrin associated periodic syndrome		Benign/Likely benign
(Aug 8, 2018)		criteria provided, multiple submitters, no conflicts
61.
GRCh37:
Chr1:247587477
GRCh38:
Chr1:247424175
NLRP3Cryopyrin associated periodic syndrome, Familial amyloid nephropathy with urticaria AND deafness, Chronic infantile neurological, cutaneous and articular syndrome,
Hearing loss, autosomal dominant 34, with or without inflammation, Keratitis fugax hereditaria, Familial cold autoinflammatory syndrome 1
Likely benign
(Nov 18, 2021)		criteria provided, multiple submitters, no conflicts
62.
GRCh37:
Chr1:247588416
GRCh38:
Chr1:247425114
NLRP3Cryopyrin associated periodic syndrome, Chronic infantile neurological, cutaneous and articular syndrome, Familial amyloid nephropathy with urticaria AND deafness,
Keratitis fugax hereditaria, Hearing loss, autosomal dominant 34, with or without inflammation, Familial cold autoinflammatory syndrome 1,
not provided, not specified		Benign/Likely benign
(Oct 22, 2022)		criteria provided, multiple submitters, no conflicts
63.
GRCh37:
Chr1:247611749
GRCh38:
Chr1:247448447
NLRP3L1016F, L1018F, L902F, L959FChronic infantile neurological, cutaneous and articular syndrome, Hearing loss, autosomal dominant 34, with or without inflammation, Keratitis fugax hereditaria,
Familial cold autoinflammatory syndrome 1, Familial amyloid nephropathy with urticaria AND deafness, Cryopyrin associated periodic syndrome,
Chronic infantile neurological, cutaneous and articular syndrome, Familial cold autoinflammatory syndrome 1, Familial amyloid nephropathy with urticaria AND deafness,
not provided		Conflicting interpretations of pathogenicity
(Jul 18, 2023)		criteria provided, conflicting interpretations
64.
GRCh37:
Chr1:247599284
GRCh38:
Chr1:247435982
NLRP3Cryopyrin associated periodic syndrome, not provided, Familial cold autoinflammatory syndrome 1,
Familial amyloid nephropathy with urticaria AND deafness, Chronic infantile neurological, cutaneous and articular syndrome		Conflicting interpretations of pathogenicity
(Jul 13, 2022)		criteria provided, conflicting interpretations
65.
GRCh37:
Chr1:247588763
GRCh38:
Chr1:247425461
NLRP3C671S, C673SFamilial cold autoinflammatory syndrome 1, Chronic infantile neurological, cutaneous and articular syndrome, Keratitis fugax hereditaria,
Hearing loss, autosomal dominant 34, with or without inflammation, Familial amyloid nephropathy with urticaria AND deafness, Autoinflammatory syndrome,
Cryopyrin associated periodic syndrome		Uncertain significance
(Sep 13, 2021)		criteria provided, multiple submitters, no conflicts
66.
GRCh37:
Chr1:247608026
GRCh38:
Chr1:247444724
NLRP3R972*, R970*, R856*, R913*Familial amyloid nephropathy with urticaria AND deafness, Chronic infantile neurological, cutaneous and articular syndrome, Keratitis fugax hereditaria,
Familial cold autoinflammatory syndrome 1, Hearing loss, autosomal dominant 34, with or without inflammation, Cryopyrin associated periodic syndrome
Uncertain significance
(Jul 6, 2021)		criteria provided, multiple submitters, no conflicts
67.
GRCh37:
Chr1:247588849
GRCh38:
Chr1:247425547
NLRP3D702N, D700NCryopyrin associated periodic syndrome, Familial amyloid nephropathy with urticaria AND deafness, Familial cold autoinflammatory syndrome 1,
Chronic infantile neurological, cutaneous and articular syndrome, Familial amyloid nephropathy with urticaria AND deafness, Hearing loss, autosomal dominant 34, with or without inflammation,
Familial cold autoinflammatory syndrome 1, Keratitis fugax hereditaria, Chronic infantile neurological, cutaneous and articular syndrome,
not provided		Conflicting interpretations of pathogenicity
(Feb 4, 2022)		criteria provided, conflicting interpretations
68.
GRCh37:
Chr1:247582229
GRCh38:
Chr1:247418927
NLRP3Q45*, Q43*Familial amyloid nephropathy with urticaria AND deafness, Familial cold autoinflammatory syndrome 1, Chronic infantile neurological, cutaneous and articular syndrome,
Keratitis fugax hereditaria, Hearing loss, autosomal dominant 34, with or without inflammation		Uncertain significance
(May 18, 2022)		criteria provided, single submitter
69.
GRCh37:
Chr1:247588871
GRCh38:
Chr1:247425569
NLRP3P709Q, P707QFamilial amyloid nephropathy with urticaria AND deafness, Familial cold autoinflammatory syndrome 1, Hearing loss, autosomal dominant 34, with or without inflammation,
Chronic infantile neurological, cutaneous and articular syndrome, Keratitis fugax hereditaria, Cryopyrin associated periodic syndrome,
Inborn genetic diseases, Autoinflammatory syndrome		Uncertain significance
(Aug 19, 2022)		criteria provided, multiple submitters, no conflicts
70.
GRCh37:
Chr1:247588565
GRCh38:
Chr1:247425263
NLRP3E607V, E605VCryopyrin associated periodic syndrome, Familial cold autoinflammatory syndrome 1, Chronic infantile neurological, cutaneous and articular syndrome,
Familial amyloid nephropathy with urticaria AND deafness, Familial cold autoinflammatory syndrome 1, Chronic infantile neurological, cutaneous and articular syndrome,
Keratitis fugax hereditaria, Familial amyloid nephropathy with urticaria AND deafness, Hearing loss, autosomal dominant 34, with or without inflammation
Uncertain significance
(Aug 20, 2022)		criteria provided, multiple submitters, no conflicts
71.
GRCh37:
Chr1:247588390
GRCh38:
Chr1:247425088
NLRP3S549C, S547CCryopyrin associated periodic syndrome, not specified, not provided,
Hearing loss, autosomal dominant 34, with or without inflammation, Familial amyloid nephropathy with urticaria AND deafness, Chronic infantile neurological, cutaneous and articular syndrome,
Familial cold autoinflammatory syndrome 1, Familial amyloid nephropathy with urticaria AND deafness, Chronic infantile neurological, cutaneous and articular syndrome,
Familial cold autoinflammatory syndrome 1, Keratitis fugax hereditariaHearing loss, autosomal dominant 34, with or without inflammation,
...see more		Conflicting interpretations of pathogenicity
(Nov 1, 2022)		criteria provided, conflicting interpretations
72.
GRCh37:
Chr1:247587841
GRCh38:
Chr1:247424539
NLRP3R366W, R364WCryopyrin associated periodic syndrome, Familial amyloid nephropathy with urticaria AND deafness, Chronic infantile neurological, cutaneous and articular syndrome,
Familial cold autoinflammatory syndrome 1, Keratitis fugax hereditaria, Hearing loss, autosomal dominant 34, with or without inflammation
Uncertain significance
(Sep 25, 2022)		criteria provided, multiple submitters, no conflicts
73.
GRCh37:
Chr1:247586623
GRCh38:
Chr1:247423321
NLRP3Cryopyrin associated periodic syndrome, not specified, Chronic infantile neurological, cutaneous and articular syndrome,
Familial cold autoinflammatory syndrome 1, Keratitis fugax hereditaria, Familial amyloid nephropathy with urticaria AND deafness,
Hearing loss, autosomal dominant 34, with or without inflammation		Likely benign
(Aug 9, 2022)		criteria provided, multiple submitters, no conflicts
74.
GRCh37:
Chr1:247597588
GRCh38:
Chr1:247434286
NLRP3Cryopyrin associated periodic syndrome, Familial amyloid nephropathy with urticaria AND deafness, Chronic infantile neurological, cutaneous and articular syndrome,
Hearing loss, autosomal dominant 34, with or without inflammation, Keratitis fugax hereditaria, Familial cold autoinflammatory syndrome 1,
not specified		Likely benign
(Jul 19, 2022)		criteria provided, multiple submitters, no conflicts
75.
GRCh37:
Chr1:247607313
GRCh38:
Chr1:247444011
NLRP3Cryopyrin associated periodic syndrome, Chronic infantile neurological, cutaneous and articular syndrome, Keratitis fugax hereditaria,
Familial cold autoinflammatory syndrome 1, Familial amyloid nephropathy with urticaria AND deafness, Hearing loss, autosomal dominant 34, with or without inflammation
Likely benign
(Oct 27, 2022)		criteria provided, multiple submitters, no conflicts
76.
GRCh37:
Chr1:247582321
GRCh38:
Chr1:247419019
NLRP3Cryopyrin associated periodic syndrome, Chronic infantile neurological, cutaneous and articular syndrome, Keratitis fugax hereditaria,
Familial cold autoinflammatory syndrome 1, Familial amyloid nephropathy with urticaria AND deafness, Hearing loss, autosomal dominant 34, with or without inflammation
Likely benign
(Jun 11, 2022)		criteria provided, multiple submitters, no conflicts
77.
GRCh37:
Chr1:247587389
GRCh38:
Chr1:247424087
NLRP3H215R, H213RCryopyrin associated periodic syndrome, Familial amyloid nephropathy with urticaria AND deafness, Chronic infantile neurological, cutaneous and articular syndrome,
Hearing loss, autosomal dominant 34, with or without inflammation, Keratitis fugax hereditaria, Familial cold autoinflammatory syndrome 1,
not provided		Uncertain significance
(Aug 23, 2022)		criteria provided, multiple submitters, no conflicts
78.
GRCh37:
Chr1:247588687
GRCh38:
Chr1:247425385
NLRP3D648Y, D646YCryopyrin associated periodic syndrome, not provided, Familial amyloid nephropathy with urticaria AND deafness,
Chronic infantile neurological, cutaneous and articular syndrome, Hearing loss, autosomal dominant 34, with or without inflammation, Keratitis fugax hereditaria,
Familial cold autoinflammatory syndrome 1		Uncertain significance
(Aug 9, 2022)		criteria provided, multiple submitters, no conflicts
79.
GRCh37:
Chr1:247587772
GRCh38:
Chr1:247424470
NLRP3E343K, E341KAutoinflammatory syndrome, Cryopyrin associated periodic syndrome, not provided,
Chronic infantile neurological, cutaneous and articular syndrome, Familial amyloid nephropathy with urticaria AND deafness, Hearing loss, autosomal dominant 34, with or without inflammation,
Familial cold autoinflammatory syndrome 1, Keratitis fugax hereditaria		Uncertain significance
(May 30, 2022)		criteria provided, multiple submitters, no conflicts
80.
GRCh37:
Chr1:247588376
GRCh38:
Chr1:247425074
NLRP3T544M, T542Mnot provided, Familial amyloid nephropathy with urticaria AND deafness, Hearing loss, autosomal dominant 34, with or without inflammation,
Familial cold autoinflammatory syndrome 1, Chronic infantile neurological, cutaneous and articular syndrome, Keratitis fugax hereditaria,
Cryopyrin associated periodic syndrome		Uncertain significance
(Aug 16, 2022)		criteria provided, multiple submitters, no conflicts
81.
GRCh37:
Chr1:247587531
GRCh38:
Chr1:247424229
NLRP3Keratitis fugax hereditaria, not provided, Cryopyrin associated periodic syndrome,
not specified, Familial cold autoinflammatory syndrome 1, Familial amyloid nephropathy with urticaria AND deafness,
Chronic infantile neurological, cutaneous and articular syndrome		Benign
(Nov 29, 2022)		criteria provided, multiple submitters, no conflicts
82.
GRCh37:
Chr1:247592908
GRCh38:
Chr1:247429606
NLRP3Cryopyrin associated periodic syndrome, Autoinflammatory syndrome, not specified,
Familial amyloid nephropathy with urticaria AND deafness, Chronic infantile neurological, cutaneous and articular syndrome, Keratitis fugax hereditaria,
Hearing loss, autosomal dominant 34, with or without inflammation, Familial cold autoinflammatory syndrome 1		Benign/Likely benign
(Aug 15, 2022)		criteria provided, multiple submitters, no conflicts
83.
GRCh37:
Chr1:247582297
GRCh38:
Chr1:247418995
NLRP3Cryopyrin associated periodic syndrome, not specified, Familial amyloid nephropathy with urticaria AND deafness,
Chronic infantile neurological, cutaneous and articular syndrome, Keratitis fugax hereditaria, Hearing loss, autosomal dominant 34, with or without inflammation,
Familial cold autoinflammatory syndrome 1		Likely benign
(Jun 27, 2022)		criteria provided, multiple submitters, no conflicts
84.
GRCh37:
Chr1:247612410
GRCh38:
Chr1:247449108
NLRP3Chronic infantile neurological, cutaneous and articular syndrome, Familial cold autoinflammatory syndrome 1, Familial amyloid nephropathy with urticaria AND deafness
Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
85.
GRCh37:
Chr1:247612295
GRCh38:
Chr1:247448993
NLRP3Chronic infantile neurological, cutaneous and articular syndrome, Familial amyloid nephropathy with urticaria AND deafness, Familial cold autoinflammatory syndrome 1
Benign
(Jan 13, 2018)		criteria provided, single submitter
86.
GRCh37:
Chr1:247612202
GRCh38:
Chr1:247448900
NLRP3Chronic infantile neurological, cutaneous and articular syndrome, Familial amyloid nephropathy with urticaria AND deafness, Familial cold autoinflammatory syndrome 1
Benign
(Jan 13, 2018)		criteria provided, single submitter
87.
GRCh37:
Chr1:247612036
GRCh38:
Chr1:247448734
NLRP3Cryopyrin associated periodic syndrome, Atypical hemolytic-uremic syndrome, Familial amyloid nephropathy with urticaria AND deafness,
Familial cold autoinflammatory syndrome 1, Autoinflammatory syndrome, Chronic infantile neurological, cutaneous and articular syndrome
Benign
(Nov 1, 2022)		criteria provided, multiple submitters, no conflicts
88.
GRCh37:
Chr1:247611743
GRCh38:
Chr1:247448441
NLRP3Familial amyloid nephropathy with urticaria AND deafness, Familial cold autoinflammatory syndrome 1, Chronic infantile neurological, cutaneous and articular syndrome
Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
89.
GRCh37:
Chr1:247599411
GRCh38:
Chr1:247436109
NLRP3K880E, K878E, K821EFamilial amyloid nephropathy with urticaria AND deafness, Familial cold autoinflammatory syndrome 1, Chronic infantile neurological, cutaneous and articular syndrome
Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
90.
GRCh37:
Chr1:247597507
GRCh38:
Chr1:247434205
NLRP3Familial amyloid nephropathy with urticaria AND deafness, Autoinflammatory syndrome, not provided,
Chronic infantile neurological, cutaneous and articular syndrome, Familial cold autoinflammatory syndrome 1, Cryopyrin associated periodic syndrome
Conflicting interpretations of pathogenicity
(Oct 16, 2022)		criteria provided, conflicting interpretations
91.
GRCh37:
Chr1:247593037
GRCh38:
Chr1:247429735
NLRP3Cryopyrin associated periodic syndrome, Chronic infantile neurological, cutaneous and articular syndrome, Chronic infantile neurological, cutaneous and articular syndrome,
Familial cold autoinflammatory syndrome 1, Keratitis fugax hereditaria, Familial amyloid nephropathy with urticaria AND deafness,
Hearing loss, autosomal dominant 34, with or without inflammation, Familial amyloid nephropathy with urticaria AND deafness, Familial cold autoinflammatory syndrome 1
Benign/Likely benign
(Oct 18, 2022)		criteria provided, multiple submitters, no conflicts
92.
GRCh37:
Chr1:247592950
GRCh38:
Chr1:247429648
NLRP3Cryopyrin associated periodic syndrome, not provided, Chronic infantile neurological, cutaneous and articular syndrome,
Familial cold autoinflammatory syndrome 1, Keratitis fugax hereditaria, Familial amyloid nephropathy with urticaria AND deafness,
Hearing loss, autosomal dominant 34, with or without inflammation, Chronic infantile neurological, cutaneous and articular syndrome, Familial amyloid nephropathy with urticaria AND deafness,
Familial cold autoinflammatory syndrome 1		Benign/Likely benign
(Apr 8, 2022)		criteria provided, multiple submitters, no conflicts
93.
GRCh37:
Chr1:247592921
GRCh38:
Chr1:247429619
NLRP3Familial amyloid nephropathy with urticaria AND deafness, Familial cold autoinflammatory syndrome 1, Chronic infantile neurological, cutaneous and articular syndrome,
Cryopyrin associated periodic syndrome		Benign/Likely benign
(Sep 27, 2022)		criteria provided, multiple submitters, no conflicts
94.
GRCh37:
Chr1:247588396
GRCh38:
Chr1:247425094
NLRP3Familial amyloid nephropathy with urticaria AND deafness, Familial cold autoinflammatory syndrome 1, Autoinflammatory syndrome,
not provided, not specified, Chronic infantile neurological, cutaneous and articular syndrome,
Cryopyrin associated periodic syndrome		Benign/Likely benign
(Oct 13, 2022)		criteria provided, multiple submitters, no conflicts
95.
GRCh37:
Chr1:247588112
GRCh38:
Chr1:247424810
NLRP3G456E, G454EFamilial amyloid nephropathy with urticaria AND deafness, not provided, Familial cold autoinflammatory syndrome 1,
not specified, Chronic infantile neurological, cutaneous and articular syndrome, Cryopyrin associated periodic syndrome
Conflicting interpretations of pathogenicity
(Jul 28, 2022)		criteria provided, conflicting interpretations
96.
GRCh37:
Chr1:247587996
GRCh38:
Chr1:247424694
NLRP3Familial amyloid nephropathy with urticaria AND deafness, Autoinflammatory syndrome, not provided,
Familial cold autoinflammatory syndrome 1, Chronic infantile neurological, cutaneous and articular syndrome, Cryopyrin associated periodic syndrome
Conflicting interpretations of pathogenicity
(Aug 19, 2022)		criteria provided, conflicting interpretations
97.
GRCh37:
Chr1:247587870
GRCh38:
Chr1:247424568
NLRP3Autoinflammatory syndrome, Cryopyrin associated periodic syndrome, not specified,
not provided, Chronic infantile neurological, cutaneous and articular syndrome, Familial amyloid nephropathy with urticaria AND deafness,
Familial cold autoinflammatory syndrome 1		Benign/Likely benign
(Nov 2, 2022)		criteria provided, multiple submitters, no conflicts
98.
GRCh37:
Chr1:247587174
GRCh38:
Chr1:247423872
NLRP3not specified, not provided, Chronic infantile neurological, cutaneous and articular syndrome,
Familial amyloid nephropathy with urticaria AND deafness, Familial cold autoinflammatory syndrome 1, Autoinflammatory syndrome,
Cryopyrin associated periodic syndrome		Benign
(Nov 3, 2022)		criteria provided, multiple submitters, no conflicts
99.
GRCh37:
Chr1:247587144
GRCh38:
Chr1:247423842
NLRP3Familial cold autoinflammatory syndrome 1, Chronic infantile neurological, cutaneous and articular syndrome, Cryopyrin associated periodic syndrome,
Familial amyloid nephropathy with urticaria AND deafness		Benign/Likely benign
(Oct 17, 2022)		criteria provided, multiple submitters, no conflicts
100.
GRCh37:
Chr1:247586658
GRCh38:
Chr1:247423356
NLRP3not specified, Chronic infantile neurological, cutaneous and articular syndrome, Familial amyloid nephropathy with urticaria AND deafness,
Familial cold autoinflammatory syndrome 1, Autoinflammatory syndrome, Cryopyrin associated periodic syndrome,
not provided		Benign/Likely benign
(Apr 1, 2023)		criteria provided, multiple submitters, no conflicts
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