| - GRCh37:
- Chr1:247588463
- GRCh38:
- Chr1:247425161
| NLRP3 | L571W, L573W | Familial amyloid nephropathy with urticaria AND deafness | Likely pathogenic | no assertion criteria provided |
| - GRCh37:
- Chr1:247607422
- GRCh38:
- Chr1:247444120
| NLRP3 | D824N, D881N, D938N, D940N | Hearing 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 |
| - GRCh37:
- Chr1:247588809
- GRCh38:
- Chr1:247425507
| NLRP3 | | Cryopyrin 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 |
| - GRCh37:
- Chr1:247588672
- GRCh38:
- Chr1:247425370
| NLRP3 | V641M, V643M | Keratitis 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 |
| - GRCh37:
- Chr1:247599309
- GRCh38:
- Chr1:247436007
| NLRP3 | D844Y, D787Y, D846Y | Cryopyrin 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 |
| - GRCh37:
- Chr1:247597425
- GRCh38:
- Chr1:247434123
| NLRP3 | S724L, S781L, S783L | Chronic 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 |
| - GRCh37:
- Chr1:247597413
- GRCh38:
- Chr1:247434111
| NLRP3 | R777H, R779H, R720H | Chronic 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 |
| - GRCh37:
- Chr1:247593009
- GRCh38:
- Chr1:247429707
| NLRP3 | V758A, V760A | not 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 |
| - GRCh37:
- Chr1:247588384
- GRCh38:
- Chr1:247425082
| NLRP3 | P545A, P547A | Familial amyloid nephropathy with urticaria AND deafness, Cryopyrin associated periodic syndrome | Uncertain significance
(Sep 24, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:247597470
- GRCh38:
- Chr1:247434168
| NLRP3 | Q739R, Q798R, Q796R | 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, Cryopyrin associated periodic syndrome
| Uncertain significance
(Feb 8, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:247593021
- GRCh38:
- Chr1:247429719
| NLRP3 | T762M, T764M | Cryopyrin 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 |
| - GRCh37:
- Chr1:247586583
- GRCh38:
- Chr1:247423281
| NLRP3 | S110N, S112N | Chronic 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 |
| - GRCh37:
- Chr1:247582271
- GRCh38:
- Chr1:247418969
| NLRP3 | I57V, I59V | Chronic 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 |
| - GRCh37:
- Chr1:247588917
- GRCh38:
- Chr1:247425615
| NLRP3 | | Familial 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 |
| - GRCh37:
- Chr1:247599354
- GRCh38:
- Chr1:247436052
| NLRP3 | Y802H, Y859H, Y861H | Familial 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 |
| - GRCh37:
- Chr1:247588374
- GRCh38:
- Chr1:247425072
| NLRP3 | | 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
| Benign/Likely benign
(Oct 9, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:247582249
- GRCh38:
- Chr1:247418947
| NLRP3 | | Cryopyrin 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 |
| - GRCh37:
- Chr1:247607319
- GRCh38:
- Chr1:247444017
| NLRP3 | | Cryopyrin 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 |
| - GRCh37:
- Chr1:247587909
- GRCh38:
- Chr1:247424607
| NLRP3 | D386E, D388E | Cryopyrin 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 |
| - GRCh37:
- Chr1:247588122
- GRCh38:
- Chr1:247424820
| NLRP3 | E457D, E459D | Cryopyrin 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 |
| - GRCh37:
- Chr1:247607290
- GRCh38:
- Chr1:247443988
| NLRP3 | L780F, L837F, L894F, L896F | Cryopyrin 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 |
| - GRCh37:
- Chr1:247586657
- GRCh38:
- Chr1:247423355
| NLRP3 | | Cryopyrin 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 |
| - GRCh37:
- Chr1:247607974
- GRCh38:
- Chr1:247444672
| NLRP3 | | Keratitis fugax hereditaria, Chronic infantile neurological, cutaneous and articular syndrome, 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,
not provided | Likely benign
(Mar 22, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:247608030
- GRCh38:
- Chr1:247444728
| NLRP3 | K857T, K914T, K971T, K973T | Keratitis 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 |
| - GRCh37:
- Chr1:247597419
- GRCh38:
- Chr1:247434117
| NLRP3 | G722D, G779D, G781D | not provided, Keratitis fugax hereditaria, Hearing loss, autosomal dominant 34, with or without inflammation,
Familial amyloid nephropathy with urticaria AND deafness, Familial cold autoinflammatory syndrome 1, Chronic infantile neurological, cutaneous and articular syndrome,
Cryopyrin associated periodic syndrome | Uncertain significance
(Jun 27, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:247588669
- GRCh38:
- Chr1:247425367
| NLRP3 | F640V, F642V | Cryopyrin 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 |
| - GRCh37:
- Chr1:247592980
- GRCh38:
- Chr1:247429678
| NLRP3 | D748E, D750E | Hearing 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 |
| - GRCh37:
- Chr1:247587841
- GRCh38:
- Chr1:247424539
| NLRP3 | | Hearing 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 |
| - GRCh37:
- Chr1:247587315
- GRCh38:
- Chr1:247424013
| NLRP3 | | Hearing 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 |
| - GRCh37:
- Chr1:247608100
- GRCh38:
- Chr1:247444798
| NLRP3 | Q880H, Q996H, Q937H, Q994H | Familial 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 |
| - GRCh37:
- Chr1:247607296
- GRCh38:
- Chr1:247443994
| NLRP3 | S782P, S896P, S898P, S839P | not provided, Familial cold autoinflammatory syndrome 1, Chronic infantile neurological, cutaneous and articular syndrome,
Hearing loss, autosomal dominant 34, with or without inflammation, Familial amyloid nephropathy with urticaria AND deafness, Keratitis fugax hereditaria,
Cryopyrin associated periodic syndrome | Conflicting interpretations of pathogenicity
(Nov 1, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr1:247599417
- GRCh38:
- Chr1:247436115
| NLRP3 | P880S, P882S, P823S | Familial amyloid nephropathy with urticaria AND deafness, Cryopyrin associated periodic syndrome | Uncertain significance
(Aug 28, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:247612237
- GRCh38:
- Chr1:247448935
| NLRP3 | | Chronic 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 |
| - GRCh37:
- Chr1:247587715
- GRCh38:
- Chr1:247424413
| NLRP3 | K324E, K322E | Chronic 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 |
| - GRCh37:
- Chr1:247587227
- GRCh38:
- Chr1:247423925
| NLRP3 | S161I, S159I | Familial amyloid nephropathy with urticaria AND deafness, Chronic infantile neurological, cutaneous and articular syndrome, Familial cold autoinflammatory syndrome 1,
NLRP3-related condition, Cryopyrin associated periodic syndrome | Conflicting interpretations of pathogenicity
(Jul 15, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr1:247581764
- GRCh38:
- Chr1:247418462
| NLRP3 | | Chronic 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 |
| - GRCh37:
- Chr1:247581734
- GRCh38:
- Chr1:247418432
| NLRP3 | | Chronic 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 |
| - GRCh37:
- Chr1:247581417
- GRCh38:
- Chr1:247418115
| NLRP3 | | Familial 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 |
| - GRCh37:
- Chr1:247612184
- GRCh38:
- Chr1:247448882
| NLRP3 | | Chronic infantile neurological, cutaneous and articular syndrome, Familial cold autoinflammatory syndrome 1, Familial amyloid nephropathy with urticaria AND deafness
| Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:247599377
- GRCh38:
- Chr1:247436075
| NLRP3 | | Familial 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 |
| - GRCh37:
- Chr1:247587134
- GRCh38:
- Chr1:247423832
| NLRP3 | | Familial 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 |
| - GRCh37:
- Chr1:247582224
- GRCh38:
- Chr1:247418922
| NLRP3 | R43K, R41K | Familial 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 |
| - GRCh37:
- Chr1:247581696
- GRCh38:
- Chr1:247418394
| NLRP3 | | Familial 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 |
| - GRCh37:
- Chr1:247611945
- GRCh38:
- Chr1:247448643
| NLRP3 | | Chronic 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 |
| - GRCh37:
- Chr1:247597516
- GRCh38:
- Chr1:247434214
| NLRP3 | | Familial 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 |
| - GRCh37:
- Chr1:247588531
- GRCh38:
- Chr1:247425229
| NLRP3 | | Familial 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 |
| - GRCh37:
- Chr1:247586546
- GRCh38:
- Chr1:247423244
| NLRP3 | R100G, R98G | Familial 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 |
| - GRCh37:
- Chr1:247581580
- GRCh38:
- Chr1:247418278
| NLRP3 | | Familial 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 |
| - GRCh37:
- Chr1:247611922
- GRCh38:
- Chr1:247448620
| NLRP3 | | Familial 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 |
| - GRCh37:
- Chr1:247611808
- GRCh38:
- Chr1:247448506
| NLRP3 | | Familial 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 |
| - GRCh37:
- Chr1:247592991
- GRCh38:
- Chr1:247429689
| NLRP3 | G752E, G754E | Familial 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 |
| - GRCh37:
- Chr1:247587316
- GRCh38:
- Chr1:247424014
| NLRP3 | G189S, G191S | Familial 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 |
| - GRCh37:
- Chr1:247582336
- GRCh38:
- Chr1:247419034
| NLRP3 | | Familial 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 |
| - GRCh37:
- Chr1:247581884
- GRCh38:
- Chr1:247418582
| NLRP3 | | Familial 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 |
| - GRCh37:
- Chr1:247588394
- GRCh38:
- Chr1:247425092
| NLRP3 | R550H, R548H | Familial 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 |
| - GRCh37:
- Chr1:247593006
- GRCh38:
- Chr1:247429704
| NLRP3 | R757T, R759T | 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, not provided,
Cryopyrin associated periodic syndrome | Uncertain significance
(Aug 11, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:247587154
- GRCh38:
- Chr1:247423852
| NLRP3 | R137C, R135C | 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, Cryopyrin associated periodic syndrome
| Uncertain significance
(Aug 30, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:247587904
- GRCh38:
- Chr1:247424602
| NLRP3 | S385A, S387A | 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, Keratitis fugax hereditaria, Cryopyrin associated periodic syndrome,
not provided | Uncertain significance
(Jan 3, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:247607445
- GRCh38:
- Chr1:247444143
| NLRP3 | | Familial 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 |
| - GRCh37:
- Chr1:247608069
- GRCh38:
- Chr1:247444767
| NLRP3 | V986D, V984D, V870D, V927D | Familial amyloid nephropathy with urticaria AND deafness, Familial cold autoinflammatory syndrome 1, not provided
| Uncertain significance
(Mar 26, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:247588191
- GRCh38:
- Chr1:247424889
| NLRP3 | | Familial 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 |
| - GRCh37:
- Chr1:247587477
- GRCh38:
- Chr1:247424175
| NLRP3 | | 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, Cryopyrin associated periodic syndrome
| Likely benign
(Nov 18, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:247588416
- GRCh38:
- Chr1:247425114
| NLRP3 | | Cryopyrin 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 |
| - GRCh37:
- Chr1:247611749
- GRCh38:
- Chr1:247448447
| NLRP3 | L1016F, L1018F, L902F, L959F | Chronic 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 |
| - GRCh37:
- Chr1:247599284
- GRCh38:
- Chr1:247435982
| NLRP3 | | Cryopyrin 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 |
| - GRCh37:
- Chr1:247588763
- GRCh38:
- Chr1:247425461
| NLRP3 | C671S, C673S | Familial 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 |
| - GRCh37:
- Chr1:247608026
- GRCh38:
- Chr1:247444724
| NLRP3 | R972*, 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 |
| - GRCh37:
- Chr1:247588849
- GRCh38:
- Chr1:247425547
| NLRP3 | D702N, D700N | Cryopyrin 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 |
| - GRCh37:
- Chr1:247582229
- GRCh38:
- Chr1:247418927
| NLRP3 | Q45*, 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 |
| - GRCh37:
- Chr1:247588871
- GRCh38:
- Chr1:247425569
| NLRP3 | P709Q, P707Q | 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, Keratitis fugax hereditaria, Cryopyrin associated periodic syndrome,
Inborn genetic diseases, Autoinflammatory syndrome | Uncertain significance
(Aug 19, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:247588565
- GRCh38:
- Chr1:247425263
| NLRP3 | E607V, E605V | Cryopyrin 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 |
| - GRCh37:
- Chr1:247588390
- GRCh38:
- Chr1:247425088
| NLRP3 | S549C, S547C | Cryopyrin 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 |
| - GRCh37:
- Chr1:247587841
- GRCh38:
- Chr1:247424539
| NLRP3 | R366W, R364W | Cryopyrin 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 |
| - GRCh37:
- Chr1:247586623
- GRCh38:
- Chr1:247423321
| NLRP3 | | Cryopyrin 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 |
| - GRCh37:
- Chr1:247597588
- GRCh38:
- Chr1:247434286
| NLRP3 | | Cryopyrin 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 |
| - GRCh37:
- Chr1:247607313
- GRCh38:
- Chr1:247444011
| NLRP3 | | Cryopyrin 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 |
| - GRCh37:
- Chr1:247582321
- GRCh38:
- Chr1:247419019
| NLRP3 | | Cryopyrin 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 |
| - GRCh37:
- Chr1:247587389
- GRCh38:
- Chr1:247424087
| NLRP3 | H215R, H213R | Familial cold autoinflammatory syndrome 1, 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, Cryopyrin associated periodic syndrome,
not provided | Uncertain significance
(Aug 23, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:247588687
- GRCh38:
- Chr1:247425385
| NLRP3 | D648Y, D646Y | Familial cold autoinflammatory syndrome 1, 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, Cryopyrin associated periodic syndrome,
not provided | Uncertain significance
(Aug 9, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:247587772
- GRCh38:
- Chr1:247424470
| NLRP3 | E343K, E341K | Autoinflammatory 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 |
| - GRCh37:
- Chr1:247588376
- GRCh38:
- Chr1:247425074
| NLRP3 | T544M, T542M | not 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 |
| - GRCh37:
- Chr1:247587531
- GRCh38:
- Chr1:247424229
| NLRP3 | | Cryopyrin associated periodic syndrome, not specified, Keratitis fugax hereditaria,
not provided, Familial cold autoinflammatory syndrome 1, Familial amyloid nephropathy with urticaria AND deafness,
Chronic infantile neurological, cutaneous and articular syndrome | Benign
(Nov 12, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:247592908
- GRCh38:
- Chr1:247429606
| NLRP3 | | Cryopyrin 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 |
| - GRCh37:
- Chr1:247582297
- GRCh38:
- Chr1:247418995
| NLRP3 | | Cryopyrin 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 |
| - GRCh37:
- Chr1:247612410
- GRCh38:
- Chr1:247449108
| NLRP3 | | Chronic 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 |
| - GRCh37:
- Chr1:247612295
- GRCh38:
- Chr1:247448993
| NLRP3 | | Chronic 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 |
| - GRCh37:
- Chr1:247612202
- GRCh38:
- Chr1:247448900
| NLRP3 | | Chronic 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 |
| - GRCh37:
- Chr1:247612151-247612152
- GRCh38:
- Chr1:247448849-247448850
| NLRP3 | | Chronic infantile neurological, cutaneous and articular syndrome, Familial amyloid nephropathy with urticaria AND deafness, Familial cold autoinflammatory syndrome
| Benign
(Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr1:247612132-247612135
- GRCh38:
- Chr1:247448830-247448833
| NLRP3 | | Chronic infantile neurological, cutaneous and articular syndrome, Familial amyloid nephropathy with urticaria AND deafness, Familial cold autoinflammatory syndrome
| Uncertain significance
(Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr1:247612127-247612130
- GRCh38:
- Chr1:247448825-247448828
| NLRP3 | | Chronic infantile neurological, cutaneous and articular syndrome, Familial amyloid nephropathy with urticaria AND deafness, Familial cold autoinflammatory syndrome
| Uncertain significance
(Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr1:247612036
- GRCh38:
- Chr1:247448734
| NLRP3 | | Cryopyrin 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 |
| - GRCh37:
- Chr1:247611982
- GRCh38:
- Chr1:247448680
| NLRP3 | | Familial amyloid nephropathy with urticaria AND deafness, Familial cold autoinflammatory syndrome, Chronic infantile neurological, cutaneous and articular syndrome
| Benign
(Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr1:247611743
- GRCh38:
- Chr1:247448441
| NLRP3 | | Familial 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 |
| - GRCh37:
- Chr1:247599411
- GRCh38:
- Chr1:247436109
| NLRP3 | K880E, K878E, K821E | Familial 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 |
| - GRCh37:
- Chr1:247597507
- GRCh38:
- Chr1:247434205
| NLRP3 | | Familial 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 |
| - GRCh37:
- Chr1:247593037
- GRCh38:
- Chr1:247429735
| NLRP3 | | 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, Familial cold autoinflammatory syndrome 1, Chronic infantile neurological, cutaneous and articular syndrome,
Keratitis fugax hereditaria, Hearing loss, autosomal dominant 34, with or without inflammation, Cryopyrin associated periodic syndrome
| Benign/Likely benign
(Oct 18, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:247592950
- GRCh38:
- Chr1:247429648
| NLRP3 | | Cryopyrin 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 |
| - GRCh37:
- Chr1:247592921
- GRCh38:
- Chr1:247429619
| NLRP3 | | Familial 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 |
| - GRCh37:
- Chr1:247588396
- GRCh38:
- Chr1:247425094
| NLRP3 | | Familial 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 |
| - GRCh37:
- Chr1:247588112
- GRCh38:
- Chr1:247424810
| NLRP3 | G456E, G454E | Familial 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 |