Total 261 pathogenic variants reported for Familial Cold Autoinflammatory Syndrome 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_144687.4(NLRP12):c.850C>T (p.Arg284Ter) SNV
Germline		 Chr19:53810809 Conflicting classifications of pathogenicity Familial cold autoinflammatory syndrome 2
Condition: not provided
Autoinflammatory syndrome		 Criteria Provided
Conflicting Classifications
 CA115098 rs_104895564

11 SubmittersRCV000001663RCV000084149RCV002262535
NM_001243133.2(NLRP3):c.1316C>T (p.Ala439Val) SNV
Germline		 Chr1:247424765 Pathogenic/Likely pathogenic Familial cold autoinflammatory syndrome 1
Condition: not provided
Cryopyrin associated periodic syndrome
Autoinflammatory syndrome
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
Keratitis fugax hereditaria		 Criteria Provided
Multiple Submitters
No Conflicts
 CA280958 rs_121908146

12 SubmittersRCV000004618RCV000214900RCV000701554RCV002262553RCV002476928
NM_001243133.2(NLRP3):c.592G>A (p.Val198Met) SNV
Germline		 Chr1:247424041 Conflicting classifications of pathogenicity Familial cold autoinflammatory syndrome 1
Condition: not provided
not specified
Familial cold autoinflammatory syndrome
Familial amyloid nephropathy with urticaria AND deafness
Chronic infantile neurological, cutaneous and articular syndrome
Familial cold autoinflammatory syndrome 1
Hearing loss, autosomal dominant 34, with or without inflammation
Cryopyrin associated periodic syndrome
Kidney disorder
Autoinflammatory syndrome
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
Keratitis fugax hereditaria
NLRP3-related disorder
Chronic infantile neurological, cutaneous and articular syndrome		 Criteria Provided
Conflicting Classifications
 CA280962 rs_121908147

19 SubmittersRCV000004619RCV000224634RCV000248492RCV000312024RCV000509555RCV000791008RCV001082121RCV002293975RCV002262554RCV003224088RCV004528070RCV005256547
NM_001243133.2(NLRP3):c.1880A>G (p.Glu627Gly) SNV
Germline		 Chr1:247425329 Likely pathogenic Familial cold autoinflammatory syndrome 1
Autoinflammatory syndrome		 Criteria Provided
Single Submitter
 CA280966 rs_121908148

3 SubmittersRCV000004620RCV002262555
NM_001243133.2(NLRP3):c.1055C>T (p.Ala352Val) SNV
Germline		 Chr1:247424504 Pathogenic/Likely pathogenic Familial amyloid nephropathy with urticaria AND deafness
Familial cold autoinflammatory syndrome 1
Condition: not provided
Cryopyrin associated periodic syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA116780 rs_121908149

4 SubmittersRCV000004621RCV000084171RCV001091235RCV001225906
NM_001243133.2(NLRP3):c.778C>T (p.Arg260Ter) SNV
Germline		 Chr1:247424227 Pathogenic Familial amyloid nephropathy with urticaria AND deafness
Familial cold autoinflammatory syndrome 1
Condition: not provided
Autoinflammatory syndrome
Cryopyrin associated periodic syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA116784 rs_121908150

10 SubmittersRCV000004622RCV000004623RCV000221297RCV002262556RCV001067187
NM_001243133.2(NLRP3):c.1705G>C (p.Gly569Arg) SNV
Germline		 Chr1:247425154 Likely pathogenic Familial amyloid nephropathy with urticaria AND deafness
Familial cold autoinflammatory syndrome 1		 Criteria Provided
Single Submitter
 CA116788 rs_121908151

3 SubmittersRCV000004624RCV000084204
NM_001243133.2(NLRP3):c.1718T>C (p.Phe573Ser) SNV
Germline		 Chr1:247425167 Pathogenic Chronic infantile neurological, cutaneous and articular syndrome
Familial cold autoinflammatory syndrome 1		 No Assertion Criteria Provided
 CA116792 rs_121908152

2 SubmittersRCV000004625RCV000084210
NM_001243133.2(NLRP3):c.907G>A (p.Asp303Asn) SNV
Germline		 Chr1:247424356 Pathogenic Familial amyloid nephropathy with urticaria AND deafness
Chronic infantile neurological, cutaneous and articular syndrome
Familial cold autoinflammatory syndrome 1
Condition: not provided
Cryopyrin associated periodic syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA116796 rs_121908153

8 SubmittersRCV000004627RCV000004626RCV000084240RCV000214348RCV000527671
NM_001243133.2(NLRP3):c.926T>C (p.Phe309Ser) SNV
Germline		 Chr1:247424375 Pathogenic Chronic infantile neurological, cutaneous and articular syndrome
Familial cold autoinflammatory syndrome 1		 No Assertion Criteria Provided
 CA116800 rs_121908154

2 SubmittersRCV000004628RCV000084248
NM_001243133.2(NLRP3):c.1058T>C (p.Leu353Pro) SNV
Germline		 Chr1:247424507 Pathogenic Familial cold autoinflammatory syndrome 1
Condition: 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
Familial cold autoinflammatory syndrome 1
Keratitis fugax hereditaria
Cryopyrin associated periodic syndrome
not specified
NLRP3-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA280970 rs_28937896

8 SubmittersRCV000004629RCV000219571RCV000762894RCV000795773RCV001000586RCV005406723
NM_144687.4(NLRP12):c.2830C>A (p.Arg944=) SNV
Germline		 Chr19:53798340 Conflicting classifications of pathogenicity Condition: not provided
Familial cold autoinflammatory syndrome
Familial cold autoinflammatory syndrome 2
Autoinflammatory syndrome
NLRP12-related disorder		 Criteria Provided
Conflicting Classifications
 CA224940 rs_104895570

11 SubmittersRCV000084148RCV000283785RCV000560378RCV002262684RCV003915109
NM_001243133.2(NLRP3):c.1043C>T (p.Thr348Met) SNV
Germline		 Chr1:247424492 Pathogenic Familial cold autoinflammatory syndrome 1
Condition: not provided
Cryopyrin associated periodic syndrome
Familial amyloid nephropathy with urticaria AND deafness
Autoinflammatory syndrome
Chronic infantile neurological, cutaneous and articular syndrome
Familial amyloid nephropathy with urticaria AND deafness		 Criteria Provided
Multiple Submitters
No Conflicts
 CA281117 rs_151344629

10 SubmittersRCV000084167RCV000214584RCV000540218RCV000449533RCV002262687RCV002464107
NM_001243133.2(NLRP3):c.1051G>A (p.Val351Met) SNV
Germline		 Chr1:247424500 Conflicting classifications of pathogenicity Familial cold autoinflammatory syndrome 1
Autoinflammatory syndrome
Cryopyrin associated periodic syndrome		 Criteria Provided
Conflicting Classifications
 CA281121 rs_180177463

3 SubmittersRCV000084168RCV002262688RCV003593907
NM_001243133.2(NLRP3):c.1054G>A (p.Ala352Thr) SNV
Germline		 Chr1:247424503 Likely pathogenic Familial cold autoinflammatory syndrome 1
Cryopyrin associated periodic syndrome
Chronic infantile neurological, cutaneous and articular syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA281129 rs_180177503

3 SubmittersRCV000084170RCV001854466RCV003152680
NM_001243133.2(NLRP3):c.1121C>A (p.Ala374Asp) SNV
Germline		 Chr1:247424570 Likely pathogenic Condition: not provided
Familial cold autoinflammatory syndrome 1		 Criteria Provided
Single Submitter
 CA281141 rs_180177437

2 SubmittersRCV005000995RCV000084174
NM_001243133.2(NLRP3):c.1213A>C (p.Thr405Pro) SNV
Germline		 Chr1:247424662 Pathogenic/Likely pathogenic Familial cold autoinflammatory syndrome 1
Condition: not provided
Cryopyrin associated periodic syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA281145 rs_180177445

3 SubmittersRCV000084175RCV000221845RCV001854467
NM_001243133.2(NLRP3):c.1306A>G (p.Thr436Ala) SNV
Germline		 Chr1:247424755 Conflicting classifications of pathogenicity Familial cold autoinflammatory syndrome 1
Condition: not provided
Cryopyrin associated periodic syndrome		 Criteria Provided
Conflicting Classifications
 CA281165 rs_180177465

3 SubmittersRCV000084180RCV000433450RCV000707213
NM_001243133.2(NLRP3):c.1307C>T (p.Thr436Ile) SNV
Germline		 Chr1:247424756 Pathogenic/Likely pathogenic Familial cold autoinflammatory syndrome 1
Cryopyrin associated periodic syndrome
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA281177 rs_180177433

3 SubmittersRCV000084183RCV001056510RCV003114249
NM_001243133.2(NLRP3):c.1315G>A (p.Ala439Thr) SNV
Germline		 Chr1:247424764 Pathogenic/Likely pathogenic Familial cold autoinflammatory syndrome 1
Cryopyrin associated periodic syndrome
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA281181 rs_180177430

3 SubmittersRCV000084184RCV001382397RCV004700402
NM_001243133.2(NLRP3):c.1383C>T (p.Cys461=) SNV
Germline		 Chr1:247424832 Conflicting classifications of pathogenicity Familial cold autoinflammatory syndrome 1
not specified
Condition: not provided
Cryopyrin associated periodic syndrome
Autoinflammatory syndrome		 Criteria Provided
Conflicting Classifications
 CA281201 rs_104895398

6 SubmittersRCV000084189RCV001701747RCV001682793RCV001436812RCV002262691
NM_001243133.2(NLRP3):c.1463G>A (p.Arg488Lys) SNV
Germline		 Chr1:247424912 Conflicting classifications of pathogenicity Familial cold autoinflammatory syndrome 1
Condition: not provided
Cryopyrin associated periodic syndrome
Hearing impairment
not specified
Autoinflammatory syndrome
NLRP3-related disorder
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		 Criteria Provided
Conflicting Classifications
 CA281217 rs_145268073

13 SubmittersRCV000084193RCV000223458RCV001085335RCV001375155RCV005406815RCV002262693RCV004739345RCV005016374
NM_001243133.2(NLRP3):c.1568T>G (p.Phe523Cys) SNV
Germline		 Chr1:247425017 Pathogenic Familial cold autoinflammatory syndrome 1
Cryopyrin associated periodic syndrome		 Criteria Provided
Single Submitter
 CA281225 rs_180177478

2 SubmittersRCV000084195RCV001382398
NM_001243133.2(NLRP3):c.1573G>A (p.Glu525Lys) SNV
Germline		 Chr1:247425022 Pathogenic Familial cold autoinflammatory syndrome 1
Cryopyrin associated periodic syndrome		 Criteria Provided
Single Submitter
 CA281234 rs_180177458

2 SubmittersRCV000084198RCV000803838
NM_001243133.2(NLRP3):c.1699G>A (p.Glu567Lys) SNV
Germline		 Chr1:247425148 Pathogenic/Likely pathogenic Familial cold autoinflammatory syndrome 1
Cryopyrin associated periodic syndrome
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA281254 rs_104895389

4 SubmittersRCV000084203RCV001224375RCV004808577
NM_001243133.2(NLRP3):c.1706G>C (p.Gly569Ala) SNV
Germline		 Chr1:247425155 Pathogenic Familial cold autoinflammatory syndrome 1
Cryopyrin associated periodic syndrome		 Criteria Provided
Single Submitter
 CA281258 rs_180177491

2 SubmittersRCV000084205RCV003593908
NM_001243133.2(NLRP3):c.1709A>G (p.Tyr570Cys) SNV
Germline		 Chr1:247425158 Pathogenic Familial cold autoinflammatory syndrome 1
Condition: not provided		 Criteria Provided
Single Submitter
 CA281262 rs_180177438

2 SubmittersRCV000084206RCV003236775
NM_001243133.2(NLRP3):c.1985T>C (p.Met662Thr) SNV
Germline		 Chr1:247425434 Likely pathogenic Familial cold autoinflammatory syndrome 1
Familial amyloid nephropathy with urticaria AND deafness		 Criteria Provided
Single Submitter
 CA281290 rs_180177435

2 SubmittersRCV000084214RCV004720235
NM_001243133.2(NLRP3):c.2263G>C (p.Gly755Arg) SNV
Unknown		 Chr1:247429697 Likely pathogenic Familial cold autoinflammatory syndrome 1
Chronic infantile neurological, cutaneous and articular syndrome		 No Assertion Criteria Provided
 CA281310 rs_180177469

2 SubmittersRCV000084219RCV002285010
NM_001243133.2(NLRP3):c.2264G>C (p.Gly755Ala) SNV
Germline		 Chr1:247429698 Likely pathogenic Familial cold autoinflammatory syndrome 1
Cryopyrin associated periodic syndrome		 Criteria Provided
Single Submitter
 CA281314 rs_180177473

2 SubmittersRCV000084220RCV002513892
NM_001243133.2(NLRP3):c.2576A>G (p.Tyr859Cys) SNV
Germline		 Chr1:247436053 Pathogenic/Likely pathogenic Familial cold autoinflammatory syndrome 1
Condition: not provided
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
Familial amyloid nephropathy with urticaria AND deafness		 Criteria Provided
Multiple Submitters
No Conflicts
 CA281318 rs_180177452

4 SubmittersRCV000084221RCV000216746RCV004720236RCV003389316
NM_001243133.2(NLRP3):c.515T>C (p.Ile172Thr) SNV
Germline		 Chr1:247423964 Likely pathogenic Familial cold autoinflammatory syndrome 1
Cryopyrin associated periodic syndrome		 Criteria Provided
Single Submitter
 CA281331 rs_180177449

2 SubmittersRCV000084225RCV001857409
NM_001243133.2(NLRP3):c.587G>A (p.Ser196Asn) SNV
Germline		 Chr1:247424036 Conflicting classifications of pathogenicity Familial cold autoinflammatory syndrome 1
Chronic infantile neurological, cutaneous and articular syndrome
Familial amyloid nephropathy with urticaria AND deafness
Cryopyrin associated periodic syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA281335 rs_180177459

4 SubmittersRCV000084226RCV000308464RCV000365471RCV001465871RCV003229808
NM_001243133.2(NLRP3):c.674C>T (p.Ala225Val) SNV
Germline		 Chr1:247424123 Conflicting classifications of pathogenicity Familial cold autoinflammatory syndrome 1
Condition: not provided
Cryopyrin associated periodic syndrome
Autoinflammatory syndrome
NLRP3-related disorder		 Criteria Provided
Conflicting Classifications
 CA281339 rs_180177493

6 SubmittersRCV000084227RCV000217712RCV001078842RCV002262695RCV004529880
NM_001243133.2(NLRP3):c.779G>C (p.Arg260Pro) SNV
Germline		 Chr1:247424228 Conflicting classifications of pathogenicity Familial cold autoinflammatory syndrome 1
Condition: not provided
Autoinflammatory syndrome
Chronic infantile neurological, cutaneous and articular syndrome		 Criteria Provided
Conflicting Classifications
 CA281351 rs_180177442

4 SubmittersRCV000084230RCV000788842RCV002262696RCV001028056
NM_001243133.2(NLRP3):c.785T>G (p.Val262Gly) SNV
Germline		 Chr1:247424234 Likely pathogenic Familial cold autoinflammatory syndrome 1
Condition: not provided		 Criteria Provided
Single Submitter
 CA281363 rs_104895392

2 SubmittersRCV000084233RCV001582575
NM_001243133.2(NLRP3):c.790C>G (p.Leu264Val) SNV
Germline		 Chr1:247424239 Likely pathogenic Familial cold autoinflammatory syndrome 1
Condition: not provided		 Criteria Provided
Single Submitter
 CA281367 rs_180177476

2 SubmittersRCV000084234RCV003415857
NM_001243133.2(NLRP3):c.902G>A (p.Gly301Asp) SNV
Germline		 Chr1:247424351 Pathogenic/Likely pathogenic Familial cold autoinflammatory syndrome 1
Cryopyrin associated periodic syndrome
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA281387 rs_180177441

3 SubmittersRCV000084239RCV001857410RCV002227059
NM_001243133.2(NLRP3):c.907G>C (p.Asp303His) SNV
Germline		 Chr1:247424356 Pathogenic Familial cold autoinflammatory syndrome 1
Cryopyrin associated periodic syndrome		 Criteria Provided
Single Submitter
 CA281391 rs_121908153

2 SubmittersRCV000084241RCV005089557
NM_001243133.2(NLRP3):c.908A>G (p.Asp303Gly) SNV
Germline		 Chr1:247424357 Pathogenic Familial cold autoinflammatory syndrome 1
Cryopyrin associated periodic syndrome		 Criteria Provided
Single Submitter
 CA281395 rs_180177447

2 SubmittersRCV000084242RCV002514492
NM_001243133.2(NLRP3):c.910G>A (p.Glu304Lys) SNV
Germline		 Chr1:247424359 Pathogenic Familial cold autoinflammatory syndrome 1
Condition: not provided
Cryopyrin associated periodic syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA281399 rs_180177484

3 SubmittersRCV000084243RCV000217940RCV001854469
NM_001243133.2(NLRP3):c.914T>C (p.Leu305Pro) SNV
Germline		 Chr1:247424363 Pathogenic/Likely pathogenic Familial cold autoinflammatory syndrome 1
Condition: not provided
Cryopyrin associated periodic syndrome
Autoinflammatory syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA281403 rs_180177431

4 SubmittersRCV000084244RCV000221611RCV001854470RCV002262697
NM_001243133.2(NLRP3):c.920G>T (p.Gly307Val) SNV
Germline		 Chr1:247424369 Pathogenic Familial cold autoinflammatory syndrome 1
Cryopyrin associated periodic syndrome		 Criteria Provided
Single Submitter
 CA281415 rs_180177468

2 SubmittersRCV000084247RCV001043402
NM_001243133.2(NLRP3):c.931G>A (p.Glu311Lys) SNV
Germline		 Chr1:247424380 Pathogenic Familial cold autoinflammatory syndrome 1
Condition: not provided
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
Familial amyloid nephropathy with urticaria AND deafness		 Criteria Provided
Multiple Submitters
No Conflicts
 CA281423 rs_180177470

5 SubmittersRCV000084250RCV001312141RCV003593910RCV005016377RCV002464108
NM_001243133.2(NLRP3):c.937A>G (p.Ile313Val) SNV
Germline		 Chr1:247424386 Conflicting classifications of pathogenicity Familial cold autoinflammatory syndrome 1
Condition: not provided
Cryopyrin associated periodic syndrome
Autoinflammatory syndrome
Inborn genetic diseases
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
not specified
Familial amyloid nephropathy with urticaria AND deafness
Chronic infantile neurological, cutaneous and articular syndrome		 Criteria Provided
Conflicting Classifications
 CA281431 rs_180177501

11 SubmittersRCV000084252RCV000521236RCV000525710RCV002262699RCV002513894RCV005016378RCV000825406RCV001102016RCV001100031
NM_001243133.2(NLRP3):c.944C>T (p.Pro315Leu) SNV
Germline		 Chr1:247424393 Conflicting classifications of pathogenicity Familial cold autoinflammatory syndrome 1
Condition: not provided
not specified
Familial amyloid nephropathy with urticaria AND deafness
Chronic infantile neurological, cutaneous and articular syndrome
Cryopyrin associated periodic syndrome
Autoinflammatory syndrome
Kidney disorder		 Criteria Provided
Conflicting Classifications
 CA281435 rs_180177462

6 SubmittersRCV000084253RCV000213159RCV001195579RCV000344447RCV000378566RCV001226114RCV002262700RCV002294026
NM_001243133.2(NLRP3):c.977G>A (p.Gly326Glu) SNV
Germline		 Chr1:247424426 Pathogenic Familial cold autoinflammatory syndrome 1
Cryopyrin associated periodic syndrome		 Criteria Provided
Single Submitter
 CA281443 rs_180177456

2 SubmittersRCV000084255RCV001056350
NM_001199138.2(NLRC4):c.928C>T (p.Arg310Ter) SNV
Germline		 Chr2:32250936 Conflicting classifications of pathogenicity Condition: not provided
Periodic fever-infantile enterocolitis-autoinflammatory syndrome
Familial cold autoinflammatory syndrome 4
not specified
Periodic fever-infantile enterocolitis-autoinflammatory syndrome		 Criteria Provided
Conflicting Classifications
 CA230096 rs_199475953

7 SubmittersRCV000089345RCV000652408RCV003330434RCV004783744
NM_001243133.2(NLRP3):c.1584C>T (p.Ala528=) SNV
Germline		 Chr1:247425033 Conflicting classifications of pathogenicity not specified
Familial cold autoinflammatory syndrome 1
Familial amyloid nephropathy with urticaria AND deafness
Chronic infantile neurological, cutaneous and articular syndrome
Autoinflammatory syndrome
Cryopyrin associated periodic syndrome		 Criteria Provided
Conflicting Classifications
 CA292567 rs_201644343

4 SubmittersRCV000127222RCV000325594RCV000268161RCV000364278RCV002262736RCV002515913
NM_001243133.2(NLRP3):c.2118C>T (p.Leu706=) SNV
Germline		 Chr1:247425567 Conflicting classifications of pathogenicity not specified
Familial amyloid nephropathy with urticaria AND deafness
Chronic infantile neurological, cutaneous and articular syndrome
Familial cold autoinflammatory syndrome 1
Cryopyrin associated periodic syndrome
Condition: not provided
Autoinflammatory syndrome		 Criteria Provided
Conflicting Classifications
 CA292573 rs_149493236

5 SubmittersRCV000127224RCV000307210RCV000396527RCV000361891RCV000877580RCV001312143RCV002262737
NM_001199138.2(NLRC4):c.1022T>C (p.Val341Ala) SNV
Germline		 Chr2:32250842 Pathogenic Syndrome of entercolitis and autoinflmmation caused by mutation of NLRC4 (SCAN4)
Periodic fever-infantile enterocolitis-autoinflammatory syndrome
Condition: not provided
Familial cold autoinflammatory syndrome 4
Periodic fever-infantile enterocolitis-autoinflammatory syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA170101 rs_587781260

4 SubmittersRCV000132764RCV000144517RCV000434682RCV001857479
NM_001199138.2(NLRC4):c.1009A>T (p.Thr337Ser) SNV
Germline		 Chr2:32250855 Pathogenic Periodic fever-infantile enterocolitis-autoinflammatory syndrome
Familial cold autoinflammatory syndrome 4
Periodic fever-infantile enterocolitis-autoinflammatory syndrome		 Criteria Provided
Single Submitter
 CA170899 rs_587777840

2 SubmittersRCV000144518RCV001382868
NM_001199138.2(NLRC4):c.1328A>C (p.His443Pro) SNV
Germline		 Chr2:32250536 Pathogenic Familial cold autoinflammatory syndrome 4
Familial cold autoinflammatory syndrome 4
Periodic fever-infantile enterocolitis-autoinflammatory syndrome		 Criteria Provided
Single Submitter
 CA346058 rs_606231460

2 SubmittersRCV000148929RCV001227277
NM_144687.4(NLRP12):c.858C>G (p.Pro286=) SNV
Germline		 Chr19:53810801 Conflicting classifications of pathogenicity Childhood-onset schizophrenia
Familial cold autoinflammatory syndrome 2		 Criteria Provided
Conflicting Classifications
 CA210450 rs_145171629

2 SubmittersRCV000202334RCV002054245
NM_001243133.2(NLRP3):c.404G>A (p.Arg135His) SNV
Germline		 Chr1:247423853 Conflicting classifications of pathogenicity Condition: not provided
Cryopyrin associated periodic syndrome
not specified
Autoinflammatory syndrome
Familial amyloid nephropathy with urticaria AND deafness
Inborn genetic diseases
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
Cleft palate		 Criteria Provided
Conflicting Classifications
 CA1494868 rs_138946894

11 SubmittersRCV000219739RCV001067333RCV001195580RCV002262813RCV002288904RCV002516185RCV005016607RCV005623319
NM_001243133.2(NLRP3):c.2176A>G (p.Ser726Gly) SNV
Germline		 Chr1:247429610 Conflicting classifications of pathogenicity not specified
Chronic infantile neurological, cutaneous and articular syndrome
Familial amyloid nephropathy with urticaria AND deafness
Cryopyrin associated periodic syndrome
Familial cold autoinflammatory syndrome 1
Condition: not provided
Autoinflammatory syndrome
NLRP3-related disorder		 Criteria Provided
Conflicting Classifications
 CA1495151 rs_147946775

12 SubmittersRCV000216458RCV000263610RCV000303538RCV000552226RCV000626053RCV001172030RCV002262814RCV004532811
NM_001243133.2(NLRP3):c.2425G>A (p.Gly809Ser) SNV
Germline		 Chr1:247434206 Conflicting classifications of pathogenicity Condition: not provided
Familial amyloid nephropathy with urticaria AND deafness
Cryopyrin associated periodic syndrome
Chronic infantile neurological, cutaneous and articular syndrome
Familial cold autoinflammatory syndrome 1		 Criteria Provided
Conflicting Classifications
 CA1495237 rs_141389711

3 SubmittersRCV000218819RCV001098562RCV001087354RCV001098560RCV001098561
NM_001243133.2(NLRP3):c.2611G>A (p.Ala871Thr) SNV
Germline		 Chr1:247436088 Conflicting classifications of pathogenicity Condition: not provided
Cryopyrin associated periodic syndrome
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		 Criteria Provided
Conflicting Classifications
 CA1495309 rs_201867582

3 SubmittersRCV000217829RCV000698307RCV005025366
NM_001243133.2(NLRP3):c.2738C>T (p.Thr913Met) SNV
Germline		 Chr1:247444046 Conflicting classifications of pathogenicity Condition: not provided
Cryopyrin associated periodic syndrome
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		 Criteria Provided
Conflicting Classifications
 CA1495347 rs_765925466

4 SubmittersRCV000221423RCV001854729RCV005016608
NM_001243133.2(NLRP3):c.2761A>G (p.Thr921Ala) SNV
Germline		 Chr1:247444069 Conflicting classifications of pathogenicity Condition: not provided
Familial cold autoinflammatory syndrome 1
Familial amyloid nephropathy with urticaria AND deafness
Chronic infantile neurological, cutaneous and articular syndrome
Cryopyrin associated periodic syndrome		 Criteria Provided
Conflicting Classifications
 CA1495350 rs_200089542

5 SubmittersRCV000220153RCV000298441RCV000337870RCV000394837RCV000813164
NM_001243133.2(NLRP3):c.2855C>T (p.Thr952Met) SNV
Germline		 Chr1:247444671 Conflicting classifications of pathogenicity not specified
Familial cold autoinflammatory syndrome 1
Familial amyloid nephropathy with urticaria AND deafness
Chronic infantile neurological, cutaneous and articular syndrome
Cryopyrin associated periodic syndrome
Condition: not provided
Autoinflammatory syndrome
NLRP3-related disorder		 Criteria Provided
Conflicting Classifications
 CA1495380 rs_139814109

8 SubmittersRCV000220345RCV000277197RCV000313549RCV000353278RCV001082685RCV001705232RCV002262815RCV004532812
NM_001243133.2(NLRP3):c.208G>A (p.Val70Met) SNV
Germline		 Chr1:247419008 Conflicting classifications of pathogenicity not specified
Chronic infantile neurological, cutaneous and articular syndrome
Familial amyloid nephropathy with urticaria AND deafness
Familial cold autoinflammatory syndrome 1
Condition: not provided
Cryopyrin associated periodic syndrome
Autoinflammatory syndrome		 Criteria Provided
Conflicting Classifications
 CA1494763 rs_117287351

7 SubmittersRCV000236962RCV000269968RCV000327334RCV000384324RCV000757572RCV001079905RCV002262849
NM_001243133.2(NLRP3):c.2107C>A (p.Gln703Lys) SNV
Germline		 Chr1:247425556 Conflicting classifications of pathogenicity not specified
Familial cold autoinflammatory syndrome 1
Chronic infantile neurological, cutaneous and articular syndrome
Familial amyloid nephropathy with urticaria AND deafness
Condition: not provided
Cryopyrin associated periodic syndrome
Autoinflammatory syndrome
Focal segmental glomerulosclerosis		 Criteria Provided
Conflicting Classifications
 CA1495112 rs_35829419

15 SubmittersRCV000246002RCV000282807RCV000340224RCV000394881RCV000416176RCV000531876RCV002262891RCV002294151
NM_144687.4(NLRP12):c.910C>T (p.His304Tyr) SNV
Germline		 Chr19:53810749 Conflicting classifications of pathogenicity not specified
Familial cold autoinflammatory syndrome 2
Autoinflammatory syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA9639573 rs_141245482

11 SubmittersRCV000249573RCV000525814RCV002262907RCV001706385
NM_001243133.2(NLRP3):c.1245C>T (p.Ile415=) SNV
Germline		 Chr1:247424694 Conflicting classifications of pathogenicity Chronic infantile neurological, cutaneous and articular syndrome
Familial cold autoinflammatory syndrome 1
Familial amyloid nephropathy with urticaria AND deafness
Cryopyrin associated periodic syndrome
Condition: not provided
Autoinflammatory syndrome
NLRP3-related disorder		 Criteria Provided
Conflicting Classifications
 CA1495001 rs_139852370

6 SubmittersRCV000288660RCV000324235RCV000381161RCV001518759RCV001675776RCV002262943RCV004543171
NM_001243133.2(NLRP3):c.2424C>T (p.Leu808=) SNV
Germline		 Chr1:247434205 Conflicting classifications of pathogenicity Familial amyloid nephropathy with urticaria AND deafness
Familial cold autoinflammatory syndrome 1
Chronic infantile neurological, cutaneous and articular syndrome
Cryopyrin associated periodic syndrome
Condition: not provided
Autoinflammatory syndrome
NLRP3-related disorder
not specified		 Criteria Provided
Conflicting Classifications
 CA1495236 rs_147154764

7 SubmittersRCV000286815RCV000345238RCV000402598RCV000892571RCV001597041RCV002262945RCV004543173RCV005431603
NM_001243133.2(NLRP3):c.-122T>C SNV
Germline		 Chr1:247418679 Conflicting classifications of pathogenicity Familial cold autoinflammatory syndrome 1
Chronic infantile neurological, cutaneous and articular syndrome
Familial amyloid nephropathy with urticaria AND deafness
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA10610773 rs_202234129

3 SubmittersRCV000262849RCV000318127RCV000352923RCV002510839
NM_001243133.2(NLRP3):c.28A>C (p.Arg10=) SNV
Germline		 Chr1:247418828 Conflicting classifications of pathogenicity Familial cold autoinflammatory syndrome 1
Chronic infantile neurological, cutaneous and articular syndrome
Familial amyloid nephropathy with urticaria AND deafness
Cryopyrin associated periodic syndrome		 Criteria Provided
Conflicting Classifications
 CA10610852 rs_1057515531

2 SubmittersRCV000295170RCV000352212RCV000396934RCV005055849
NM_001243133.2(NLRP3):c.194C>G (p.Ala65Gly) SNV
Germline		 Chr1:247418994 Conflicting classifications of pathogenicity Familial amyloid nephropathy with urticaria AND deafness
Chronic infantile neurological, cutaneous and articular syndrome
Familial cold autoinflammatory syndrome 1
Condition: not provided
Cryopyrin associated periodic syndrome		 Criteria Provided
Conflicting Classifications
 CA1494759 rs_763252989

3 SubmittersRCV000298550RCV000355739RCV000396941RCV000484612RCV001850555
NM_001243133.2(NLRP3):c.203T>C (p.Met68Thr) SNV
Germline		 Chr1:247419003 Conflicting classifications of pathogenicity Familial amyloid nephropathy with urticaria AND deafness
Familial cold autoinflammatory syndrome 1
Chronic infantile neurological, cutaneous and articular syndrome
Cryopyrin associated periodic syndrome
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
NLRP3-related disorder
Condition: not provided
not specified		 Criteria Provided
Conflicting Classifications
 CA1494761 rs_147559626

6 SubmittersRCV000302044RCV000359131RCV000401166RCV001484202RCV002502179RCV004537664RCV004791393RCV005407033
NM_001243133.2(NLRP3):c.1361G>A (p.Gly454Glu) SNV
Germline		 Chr1:247424810 Conflicting classifications of pathogenicity Familial amyloid nephropathy with urticaria AND deafness
Chronic infantile neurological, cutaneous and articular syndrome
Familial cold autoinflammatory syndrome 1
not specified
Condition: not provided
Cryopyrin associated periodic syndrome
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		 Criteria Provided
Conflicting Classifications
 CA1495015 rs_199696688

6 SubmittersRCV000314760RCV000349546RCV000401914RCV001195578RCV001569340RCV001850556RCV005016694
NM_144687.4(NLRP12):c.3152G>C (p.Arg1051Pro) SNV
Germline		 Chr19:53794083 Conflicting classifications of pathogenicity Familial cold autoinflammatory syndrome 2 Criteria Provided
Conflicting Classifications
 CA9638746 rs_777108086

2 SubmittersRCV000370362
NM_144687.4(NLRP12):c.2831G>A (p.Arg944Gln) SNV
Germline		 Chr19:53798339 Conflicting classifications of pathogenicity Familial cold autoinflammatory syndrome 2
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA9638888 rs_200742741

3 SubmittersRCV000342336RCV004021755
NM_144687.4(NLRP12):c.2044G>A (p.Ala682Thr) SNV
Germline		 Chr19:53809615 Conflicting classifications of pathogenicity Familial cold autoinflammatory syndrome 2
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA9639283 rs_778688033

3 SubmittersRCV000402772RCV001091264
NM_144687.4(NLRP12):c.861G>A (p.Glu287=) SNV
Germline		 Chr19:53810798 Conflicting classifications of pathogenicity Familial cold autoinflammatory syndrome 2
Autoimmune interstitial lung disease-arthritis syndrome		 Criteria Provided
Conflicting Classifications
 CA9639590 rs_765562062

3 SubmittersRCV000389004RCV003239289
NM_144687.4(NLRP12):c.298C>T (p.Pro100Ser) SNV
Germline		 Chr19:53814980 Conflicting classifications of pathogenicity Familial cold autoinflammatory syndrome 2
Inborn genetic diseases
Autoinflammatory syndrome
NLRP12-related disorder
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA9639769 rs_200813801

6 SubmittersRCV000884290RCV002521247RCV002263589RCV003957696RCV004703802
NM_144687.4(NLRP12):c.3146C>T (p.Ala1049Val) SNV
Germline		 Chr19:53794089 Conflicting classifications of pathogenicity Familial cold autoinflammatory syndrome 2
Autoinflammatory syndrome		 Criteria Provided
Conflicting Classifications
 CA9638750 rs_146786265

4 SubmittersRCV000275801RCV002263048
NM_144687.4(NLRP12):c.3046C>T (p.Arg1016Ter) SNV
Germline		 Chr19:53795911 Conflicting classifications of pathogenicity Condition: not provided
Familial cold autoinflammatory syndrome 2
Multisystem inflammatory syndrome in children
Autoinflammatory syndrome
NLRP12-related disorder		 Criteria Provided
Conflicting Classifications
 CA9638793 rs_35064500

7 SubmittersRCV000645655RCV001080137RCV001778921RCV002263050RCV003910268
NM_144687.4(NLRP12):c.2579C>G (p.Thr860Ser) SNV
Germline		 Chr19:53803958 Conflicting classifications of pathogenicity Autoinflammatory syndrome
Condition: not provided
Familial cold autoinflammatory syndrome 2
Inborn genetic diseases
NLRP12-related disorder
not specified		 Criteria Provided
Conflicting Classifications
 CA9639036 rs_150671525

8 SubmittersRCV002263055RCV002274984RCV000969327RCV005372290RCV003910269RCV005434838
NM_144687.4(NLRP12):c.629C>T (p.Pro210Leu) SNV
Germline		 Chr19:53811030 Conflicting classifications of pathogenicity Autoinflammatory syndrome
NLRP12-related disorder
Familial cold autoinflammatory syndrome 2		 Criteria Provided
Conflicting Classifications
 CA9639652 rs_377594629

6 SubmittersRCV002263586RCV003910271RCV001002447
NM_144687.3(NLRP12):c.-143C>A SNV
Germline		 Chr19:53824317 Conflicting classifications of pathogenicity Familial cold autoinflammatory syndrome 2
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA10649050 rs_190223587

2 SubmittersRCV000330513RCV003221927
NM_144687.3(NLRP12):c.-226A>G SNV
Germline		 Chr19:53824400 Conflicting classifications of pathogenicity Familial cold autoinflammatory syndrome 2
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA10649055 rs_547032329

2 SubmittersRCV000375750RCV002510869
NM_144687.4(NLRP12):c.3088C>G (p.Arg1030Gly) SNV
Germline		 Chr19:53795869 Conflicting classifications of pathogenicity Familial cold autoinflammatory syndrome 2
Condition: not provided
Autoinflammatory syndrome
NLRP12-related disorder		 Criteria Provided
Conflicting Classifications
 CA9638781 rs_201619538

7 SubmittersRCV000967625RCV001764298RCV002263049RCV003912380
NM_144687.4(NLRP12):c.3003C>T (p.Thr1001=) SNV
Germline		 Chr19:53795954 Conflicting classifications of pathogenicity Familial cold autoinflammatory syndrome 2 Criteria Provided
Conflicting Classifications
 CA10652216 rs_556001110

2 SubmittersRCV000317841
NM_144687.4(NLRP12):c.2792A>G (p.Glu931Gly) SNV
Germline		 Chr19:53798378 Conflicting classifications of pathogenicity Inborn genetic diseases
Familial cold autoinflammatory syndrome 2		 Criteria Provided
Conflicting Classifications
 CA9638897 rs_566677129

2 SubmittersRCV003258768RCV000347730
NM_144687.4(NLRP12):c.2575C>T (p.Arg859Trp) SNV
Germline		 Chr19:53803962 Conflicting classifications of pathogenicity Inborn genetic diseases
Autoinflammatory syndrome
NLRP12-related disorder
Familial cold autoinflammatory syndrome 2
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA9639038 rs_573629753

7 SubmittersRCV002521245RCV002263057RCV004751473RCV000823537RCV001548731
NM_144687.4(NLRP12):c.2244-14C>T SNV
Germline		 Chr19:53805464 Conflicting classifications of pathogenicity Familial cold autoinflammatory syndrome 2 Criteria Provided
Conflicting Classifications
 CA10652223 rs_866055657

2 SubmittersRCV000287722
NM_144687.4(NLRP12):c.2212A>C (p.Arg738=) SNV
Germline		 Chr19:53807526 Conflicting classifications of pathogenicity Familial cold autoinflammatory syndrome
Familial cold autoinflammatory syndrome 2
Autoinflammatory syndrome		 Criteria Provided
Conflicting Classifications
 CA9639188 rs_199966186

3 SubmittersRCV000352281RCV000905524RCV002263059
NM_144687.4(NLRP12):c.1349C>T (p.Pro450Leu) SNV
Germline		 Chr19:53810310 Conflicting classifications of pathogenicity Familial cold autoinflammatory syndrome 2 Criteria Provided
Conflicting Classifications
 CA9639446 rs_143640165

3 SubmittersRCV000645634
NM_144687.4(NLRP12):c.14C>A (p.Ala5Glu) SNV
Germline		 Chr19:53824161 Conflicting classifications of pathogenicity Inborn genetic diseases
NLRP12-related disorder
Autoinflammatory syndrome
Familial cold autoinflammatory syndrome 2		 Criteria Provided
Conflicting Classifications
 CA9639861 rs_761545315

5 SubmittersRCV002521248RCV003940320RCV002263591RCV000907030
NM_144687.4(NLRP12):c.2499C>A (p.Asp833Glu) SNV
Germline		 Chr19:53804038 Conflicting classifications of pathogenicity Inborn genetic diseases
Autoinflammatory syndrome
Familial cold autoinflammatory syndrome 2		 Criteria Provided
Conflicting Classifications
 CA9639054 rs_139956424

4 SubmittersRCV002521246RCV002263058RCV000379617
NM_144687.4(NLRP12):c.2309A>C (p.Lys770Thr) SNV
Germline		 Chr19:53805385 Conflicting classifications of pathogenicity Familial cold autoinflammatory syndrome 2
NLRP12-related disorder
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA9639120 rs_138493915

4 SubmittersRCV000893516RCV003910270RCV004021756
NM_144687.4(NLRP12):c.2165G>A (p.Arg722Gln) SNV
Germline		 Chr19:53807573 Conflicting classifications of pathogenicity Autoinflammatory syndrome
Familial cold autoinflammatory syndrome 2		 Criteria Provided
Conflicting Classifications
 CA9639204 rs_199475868

3 SubmittersRCV002263060RCV000407799
NM_144687.4(NLRP12):c.2046A>G (p.Ala682=) SNV
Germline		 Chr19:53809613 Conflicting classifications of pathogenicity Familial cold autoinflammatory syndrome 2
not specified		 Criteria Provided
Conflicting Classifications
 CA10652755 rs_886054608

3 SubmittersRCV000348705RCV003323516
NM_144687.4(NLRP12):c.986G>A (p.Arg329Gln) SNV
Germline		 Chr19:53810673 Conflicting classifications of pathogenicity Familial cold autoinflammatory syndrome 2
Condition: not provided
Autoinflammatory syndrome
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA9639550 rs_144287432

5 SubmittersRCV000264278RCV001200246RCV002263064RCV004021757
NM_144687.4(NLRP12):c.779C>T (p.Thr260Met) SNV
Germline		 Chr19:53810880 Conflicting classifications of pathogenicity Condition: not provided
Familial cold autoinflammatory syndrome 2
Autoinflammatory syndrome
NLRP12-related disorder		 Criteria Provided
Conflicting Classifications
 CA9639613 rs_150280940

7 SubmittersRCV000481155RCV001080546RCV002263584RCV003922406
NM_144687.4(NLRP12):c.654G>A (p.Ala218=) SNV
Germline		 Chr19:53811005 Conflicting classifications of pathogenicity Familial cold autoinflammatory syndrome 2
Autoinflammatory syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA9639640 rs_745766441

5 SubmittersRCV000349412RCV002263585RCV005425932
NM_144687.4(NLRP12):c.289+13C>T SNV
Germline		 Chr19:53823873 Conflicting classifications of pathogenicity Familial cold autoinflammatory syndrome 2 Criteria Provided
Conflicting Classifications
 CA9639794 rs_776591533

2 SubmittersRCV000303868
NM_001243133.2(NLRP3):c.1625C>T (p.Thr542Met) SNV
Germline		 Chr1:247425074 Conflicting classifications of pathogenicity Condition: not provided
Cryopyrin associated periodic syndrome
Chronic infantile neurological, cutaneous and articular syndrome
Familial 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		 Criteria Provided
Conflicting Classifications
 CA1495043 rs_199856287

4 SubmittersRCV000485294RCV001339255RCV004555863RCV002489142
NM_002661.5(PLCG2):c.502A>G (p.Thr168Ala) SNV
Germline		 Chr16:81869236 Conflicting classifications of pathogenicity Condition: not provided
Familial cold autoinflammatory syndrome 3
Familial cold autoinflammatory syndrome 3
Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation
not specified		 Criteria Provided
Conflicting Classifications
 CA8193249 rs_753974933

6 SubmittersRCV000497427RCV001047902RCV002481583RCV004782409
NM_002661.5(PLCG2):c.1444T>C (p.Tyr482His) SNV
Germline		 Chr16:81905484 Conflicting classifications of pathogenicity Familial cold autoinflammatory syndrome 3
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA8193757 rs_187956469

7 SubmittersRCV000548599RCV001573290
NM_144687.4(NLRP12):c.2183G>A (p.Arg728Gln) SNV
Germline		 Chr19:53807555 Conflicting classifications of pathogenicity Familial cold autoinflammatory syndrome 2
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA9639199 rs_373285006

5 SubmittersRCV000807944RCV000513470
NM_001243133.2(NLRP3):c.638A>G (p.His213Arg) SNV
Germline		 Chr1:247424087 Conflicting classifications of pathogenicity Condition: not provided
Cryopyrin associated periodic syndrome
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
Familial cold autoinflammatory syndrome 1		 Criteria Provided
Conflicting Classifications
 CA1494913 rs_150396172

4 SubmittersRCV000520553RCV001211981RCV002481693
NM_144687.4(NLRP12):c.616C>T (p.Arg206Cys) SNV
Germline		 Chr19:53811043 Conflicting classifications of pathogenicity Condition: not provided
Familial cold autoinflammatory syndrome 2
Autoinflammatory syndrome		 Criteria Provided
Conflicting Classifications
 CA9639659 rs_111754022

4 SubmittersRCV000522253RCV001135677RCV002263727
NM_001199138.2(NLRC4):c.2357G>T (p.Gly786Val) SNV
Germline		 Chr2:32238296 Conflicting classifications of pathogenicity Periodic fever-infantile enterocolitis-autoinflammatory syndrome
Familial cold autoinflammatory syndrome 4
Condition: not provided
Autoinflammatory syndrome
not specified
NLRC4-related disorder		 Criteria Provided
Conflicting Classifications
 CA1601808 rs_149451729

9 SubmittersRCV000546624RCV001706673RCV002263805RCV002268166RCV003925704
NM_002661.5(PLCG2):c.923C>T (p.Ala308Val) SNV
Germline		 Chr16:81891527 Conflicting classifications of pathogenicity Familial cold autoinflammatory syndrome 3
Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation
Familial cold autoinflammatory syndrome 3
Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA8193513 rs_199636472

7 SubmittersRCV000540341RCV000768283RCV001336487RCV001702518
NM_144687.4(NLRP12):c.1063G>A (p.Glu355Lys) SNV
Germline		 Chr19:53810596 Conflicting classifications of pathogenicity Familial cold autoinflammatory syndrome 2
Inborn genetic diseases
NLRP12-related disorder		 Criteria Provided
Conflicting Classifications
 CA9639529 rs_143855597

4 SubmittersRCV000553189RCV005453019RCV003960349
NM_144687.4(NLRP12):c.882C>G (p.Asp294Glu) SNV
Germline		 Chr19:53810777 Pathogenic Familial cold autoinflammatory syndrome 2 Criteria Provided
Single Submitter
 CA9639583 rs_147080557

2 SubmittersRCV000627080
NM_144687.4(NLRP12):c.1054C>T (p.Arg352Cys) SNV
Germline		 Chr19:53810605 Conflicting classifications of pathogenicity Familial cold autoinflammatory syndrome 2
Condition: not provided
Autoinflammatory syndrome
not specified		 Criteria Provided
Conflicting Classifications
 CA9639530 rs_199881207

11 SubmittersRCV000627081RCV001311905RCV002263840RCV005435070
NM_001243133.2(NLRP3):c.1639A>T (p.Ser547Cys) SNV
Germline		 Chr1:247425088 Conflicting classifications of pathogenicity Condition: not provided
Familial cold autoinflammatory syndrome 1
Familial amyloid nephropathy with urticaria AND deafness
Chronic infantile neurological, cutaneous and articular syndrome
not specified
Hearing loss, autosomal dominant 34, with or without inflammation
Familial cold autoinflammatory syndrome 1
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
Cryopyrin associated periodic syndrome
NLRP3-related disorder		 Criteria Provided
Conflicting Classifications
 CA1495048 rs_139833874

9 SubmittersRCV000645590RCV000768276RCV000825794RCV002282291RCV003224363RCV001088695RCV004544870
NM_001199138.2(NLRC4):c.478G>A (p.Ala160Thr) SNV
Germline		 Chr2:32251386 Conflicting classifications of pathogenicity Familial cold autoinflammatory syndrome 4
Periodic fever-infantile enterocolitis-autoinflammatory syndrome
Condition: not provided
Autoinflammatory syndrome		 Criteria Provided
Conflicting Classifications
 CA1602138 rs_113631419

7 SubmittersRCV000652416RCV001701430RCV002263918
NM_144687.4(NLRP12):c.2206G>A (p.Gly736Arg) SNV
Germline		 Chr19:53807532 Conflicting classifications of pathogenicity Familial cold autoinflammatory syndrome 2
Autoinflammatory syndrome		 Criteria Provided
Conflicting Classifications
 CA9639189 rs_554602951

3 SubmittersRCV000645651RCV002263889
NM_144687.4(NLRP12):c.858C>T (p.Pro286=) SNV
Germline		 Chr19:53810801 Conflicting classifications of pathogenicity Familial cold autoinflammatory syndrome 2
Autoinflammatory syndrome		 Criteria Provided
Conflicting Classifications
 CA9639592 rs_145171629

3 SubmittersRCV000645648RCV002263888
NM_001243133.2(NLRP3):c.2120C>A (p.Pro707Gln) SNV
Germline		 Chr1:247425569 Conflicting classifications of pathogenicity Cryopyrin associated periodic syndrome
Familial cold autoinflammatory syndrome 1
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
Condition: not provided
Autoinflammatory syndrome
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA1495114 rs_200378519

5 SubmittersRCV000707651RCV000763848RCV004723123RCV002263953RCV002534477
NM_002661.5(PLCG2):c.533G>A (p.Ser178Asn) SNV
Germline		 Chr16:81869267 Conflicting classifications of pathogenicity Familial cold autoinflammatory syndrome 3
PLCG2-related disorder
not specified		 Criteria Provided
Conflicting Classifications
 CA8193256 rs_200981336

3 SubmittersRCV000700572RCV003892559RCV005431895
NM_144687.4(NLRP12):c.2791G>T (p.Glu931Ter) SNV
Germline		 Chr19:53798379 Pathogenic Familial cold autoinflammatory syndrome 2 Criteria Provided
Single Submitter
 CA407407990 rs_1404302953

1 SubmittersRCV000688078
NM_144687.4(NLRP12):c.752A>G (p.Asn251Ser) SNV
Germline		 Chr19:53810907 Conflicting classifications of pathogenicity Familial cold autoinflammatory syndrome 2
Condition: not provided
Autoinflammatory syndrome		 Criteria Provided
Conflicting Classifications
 CA9639618 rs_200679354

3 SubmittersRCV000696997RCV001531304RCV002263939
NM_144687.4(NLRP12):c.236G>A (p.Arg79Gln) SNV
Germline		 Chr19:53823939 Conflicting classifications of pathogenicity Familial cold autoinflammatory syndrome 2
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA9639807 rs_144936138

3 SubmittersRCV000695321RCV001726305
NM_002661.5(PLCG2):c.398C>T (p.Ala133Val) SNV
Germline		 Chr16:81858323 Conflicting classifications of pathogenicity Familial cold autoinflammatory syndrome 3
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA8193166 rs_61755444

2 SubmittersRCV000703259RCV001311454
NM_144687.4(NLRP12):c.2830C>T (p.Arg944Trp) SNV
Germline		 Chr19:53798340 Conflicting classifications of pathogenicity not specified
Familial cold autoinflammatory syndrome 2
Inborn genetic diseases
Autoinflammatory syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA9638889 rs_104895570

5 SubmittersRCV000736056RCV001047694RCV003258958RCV002263961RCV003311884
NM_002661.5(PLCG2):c.77C>T (p.Thr26Met) SNV
Germline		 Chr16:81786066 Conflicting classifications of pathogenicity Condition: not provided
Familial cold autoinflammatory syndrome 3
Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation
Familial cold autoinflammatory syndrome 3
not specified		 Criteria Provided
Conflicting Classifications
 CA8193017 rs_189301790

5 SubmittersRCV000757665RCV000768282RCV001086276RCV005407939
NM_144687.4(NLRP12):c.3000G>C (p.Leu1000Phe) SNV
Germline		 Chr19:53795957 Conflicting classifications of pathogenicity Condition: not provided
Familial cold autoinflammatory syndrome 2
NLRP12-related disorder
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA9638805 rs_201437704

4 SubmittersRCV000762032RCV001476446RCV003918245RCV004027194
NM_144687.4(NLRP12):c.2052G>A (p.Ala684=) SNV
Germline		 Chr19:53809607 Conflicting classifications of pathogenicity Condition: not provided
Familial cold autoinflammatory syndrome 2
Autoinflammatory syndrome		 Criteria Provided
Conflicting Classifications
 CA9639280 rs_755768331

3 SubmittersRCV000762034RCV001078697RCV002263963
NM_001243133.2(NLRP3):c.2098G>A (p.Asp700Asn) SNV
Germline		 Chr1:247425547 Conflicting classifications of pathogenicity Familial cold autoinflammatory syndrome 1
Familial amyloid nephropathy with urticaria AND deafness
Chronic infantile neurological, cutaneous and articular syndrome
Cryopyrin associated periodic syndrome
Condition: not provided
Familial cold autoinflammatory syndrome 1
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		 Criteria Provided
Conflicting Classifications
 CA1495111 rs_781561828

4 SubmittersRCV000768030RCV001855717RCV001592950RCV003224420
NM_002661.5(PLCG2):c.2031C>T (p.Ser677=) SNV
Germline		 Chr16:81912693 Conflicting classifications of pathogenicity Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation
Familial cold autoinflammatory syndrome 3
Familial cold autoinflammatory syndrome 3		 Criteria Provided
Conflicting Classifications
 CA8194042 rs_759929786

2 SubmittersRCV000768284RCV000899435
NM_002661.5(PLCG2):c.2211C>A (p.Pro737=) SNV
Germline		 Chr16:81919640 Conflicting classifications of pathogenicity Condition: not provided
Familial cold autoinflammatory syndrome 3		 Criteria Provided
Conflicting Classifications
 CA8194119 rs_368933697

2 SubmittersRCV000788547RCV001869208
NM_001199138.2(NLRC4):c.263-7C>G SNV
Germline		 Chr2:32251608 Conflicting classifications of pathogenicity Condition: not provided
Periodic fever-infantile enterocolitis-autoinflammatory syndrome
Familial cold autoinflammatory syndrome 4		 Criteria Provided
Conflicting Classifications
 CA1602174 rs_754559711

2 SubmittersRCV000788753RCV001440500
NM_001199138.2(NLRC4):c.2647G>A (p.Ala883Thr) SNV
Germline		 Chr2:32235536 Conflicting classifications of pathogenicity Periodic fever-infantile enterocolitis-autoinflammatory syndrome
Familial cold autoinflammatory syndrome 4
Autoinflammatory syndrome
Condition: not provided
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA1601734 rs_780229500

4 SubmittersRCV000796870RCV002263988RCV004792481RCV002534612
NM_002661.5(PLCG2):c.313G>A (p.Val105Ile) SNV
Germline		 Chr16:81854563 Conflicting classifications of pathogenicity Familial cold autoinflammatory syndrome 3
Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation
Familial cold autoinflammatory syndrome 3
Condition: not provided
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA8193121 rs_754914807

5 SubmittersRCV000818849RCV002478913RCV003413651RCV004958159
NM_002661.5(PLCG2):c.421A>G (p.Ile141Val) SNV
Germline		 Chr16:81858346 Conflicting classifications of pathogenicity Familial cold autoinflammatory syndrome 3
Condition: not provided
Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation
Familial cold autoinflammatory syndrome 3
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA8193175 rs_554363067

6 SubmittersRCV000805458RCV000996349RCV002477850RCV002537200
NM_002661.5(PLCG2):c.577C>G (p.His193Asp) SNV
Germline		 Chr16:81870864 Conflicting classifications of pathogenicity Familial cold autoinflammatory syndrome 3
PLCG2-related disorder		 Criteria Provided
Conflicting Classifications
 CA285188869 rs_1032603937

2 SubmittersRCV000816290RCV003413644
NM_002661.5(PLCG2):c.2580C>T (p.Val860=) SNV
Germline		 Chr16:81928623 Conflicting classifications of pathogenicity Familial cold autoinflammatory syndrome 3
Condition: not provided
PLCG2-related disorder		 Criteria Provided
Conflicting Classifications
 CA8194347 rs_776770937

4 SubmittersRCV000820497RCV003222145RCV003918278
NM_144687.4(NLRP12):c.2960G>A (p.Cys987Tyr) SNV
Germline		 Chr19:53795997 Conflicting classifications of pathogenicity Familial cold autoinflammatory syndrome 2
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA9638816 rs_369502542

3 SubmittersRCV000807340RCV004649333
NM_144687.4(NLRP12):c.2761G>C (p.Gly921Arg) SNV
Germline		 Chr19:53798409 Conflicting classifications of pathogenicity Familial cold autoinflammatory syndrome 2
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA9638908 rs_199980950

4 SubmittersRCV000820013RCV001531911
NM_144687.4(NLRP12):c.1022C>T (p.Thr341Ile) SNV
Germline		 Chr19:53810637 Conflicting classifications of pathogenicity Familial cold autoinflammatory syndrome 2
Condition: not provided
NLRP12-related disorder
not specified		 Criteria Provided
Conflicting Classifications
 CA9639542 rs_200996095

6 SubmittersRCV000802476RCV001815479RCV004751715RCV004702432
NM_144687.4(NLRP12):c.541C>T (p.Arg181Trp) SNV
Germline		 Chr19:53811118 Conflicting classifications of pathogenicity Familial cold autoinflammatory syndrome 2
Autoinflammatory syndrome		 Criteria Provided
Conflicting Classifications
 CA9639681 rs_758607519

3 SubmittersRCV000798644RCV002263989
NM_002661.5(PLCG2):c.2581+10C>G SNV
Germline		 Chr16:81928634 Conflicting classifications of pathogenicity Familial cold autoinflammatory syndrome 3
Familial cold autoinflammatory syndrome 3
Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation
PLCG2-related disorder		 Criteria Provided
Conflicting Classifications
 CA8194351 rs_367866295

3 SubmittersRCV000812865RCV002507419RCV003948001
NM_001243133.2(NLRP3):c.2505C>T (p.Cys835=) SNV
Germline		 Chr1:247435982 Conflicting classifications of pathogenicity Condition: not provided
Chronic infantile neurological, cutaneous and articular syndrome
Familial amyloid nephropathy with urticaria AND deafness
Familial cold autoinflammatory syndrome 1
Cryopyrin associated periodic syndrome		 Criteria Provided
Conflicting Classifications
 CA424422453 rs_1351993448

3 SubmittersRCV000877160RCV001098566RCV001098567RCV001100328RCV001504103
NM_001243133.2(NLRP3):c.2571A>G (p.Arg857=) SNV
Germline		 Chr1:247436048 Conflicting classifications of pathogenicity Cryopyrin associated periodic syndrome
Hearing loss, autosomal dominant 34, with or without inflammation
Keratitis fugax hereditaria
Familial cold autoinflammatory syndrome 1
Chronic infantile neurological, cutaneous and articular syndrome
Familial amyloid nephropathy with urticaria AND deafness		 Criteria Provided
Conflicting Classifications
 CA424422771 rs_1248156475

2 SubmittersRCV001444839RCV005029543
NM_144687.4(NLRP12):c.2692G>T (p.Asp898Tyr) SNV
Germline		 Chr19:53801291 Conflicting classifications of pathogenicity Condition: not provided
Familial cold autoinflammatory syndrome 2
NLRP12-related disorder		 Criteria Provided
Conflicting Classifications
 CA9638958 rs_138514430

4 SubmittersRCV004704379RCV000967713RCV004751841
NM_001243133.2(NLRP3):c.3048A>C (p.Leu1016Phe) SNV
Germline		 Chr1:247448447 Conflicting classifications of pathogenicity Cryopyrin associated periodic syndrome
Familial cold autoinflammatory syndrome 1
Chronic infantile neurological, cutaneous and articular syndrome
Familial amyloid nephropathy with urticaria AND deafness
Condition: not provided
Hearing loss, autosomal dominant 34, with or without inflammation
Keratitis fugax hereditaria
Familial cold autoinflammatory syndrome 1
Chronic infantile neurological, cutaneous and articular syndrome
Familial amyloid nephropathy with urticaria AND deafness
not specified
NLRP3-related disorder		 Criteria Provided
Conflicting Classifications
 CA1495435 rs_143548979

5 SubmittersRCV000883290RCV001280995RCV001664527RCV003224485RCV005408046RCV004541787
NM_001199138.2(NLRC4):c.433C>T (p.His145Tyr) SNV
Germline		 Chr2:32251431 Conflicting classifications of pathogenicity Inborn genetic diseases
Periodic fever-infantile enterocolitis-autoinflammatory syndrome
Familial cold autoinflammatory syndrome 4		 Criteria Provided
Conflicting Classifications
 CA1602144 rs_145273174

2 SubmittersRCV002539287RCV000879716
NM_002661.5(PLCG2):c.1533G>C (p.Gln511His) SNV
Germline		 Chr16:81907750 Conflicting classifications of pathogenicity Familial cold autoinflammatory syndrome 3
Inborn genetic diseases
PLCG2-related disorder		 Criteria Provided
Conflicting Classifications
 CA8193813 rs_151013036

3 SubmittersRCV000887894RCV004028371RCV004742676
NM_144687.4(NLRP12):c.2622C>T (p.Asp874=) SNV
Germline		 Chr19:53801361 Conflicting classifications of pathogenicity Familial cold autoinflammatory syndrome 2
Autoinflammatory syndrome		 Criteria Provided
Conflicting Classifications
 CA9638974 rs_368897676

2 SubmittersRCV000892203RCV002264052
NM_144687.4(NLRP12):c.2258G>A (p.Arg753His) SNV
Germline		 Chr19:53805436 Conflicting classifications of pathogenicity Familial cold autoinflammatory syndrome 2
Autoinflammatory syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA9639131 rs_148745997

4 SubmittersRCV000892927RCV002264055RCV004718787
NM_144687.4(NLRP12):c.1182C>G (p.Asn394Lys) SNV
Germline		 Chr19:53810477 Conflicting classifications of pathogenicity Familial cold autoinflammatory syndrome 2
Autoinflammatory syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA9639506 rs_201241894

4 SubmittersRCV001434504RCV002264050RCV004792570
NM_144687.4(NLRP12):c.559G>A (p.Val187Met) SNV
Germline		 Chr19:53811100 Conflicting classifications of pathogenicity Familial cold autoinflammatory syndrome 2
Condition: not provided
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA9639673 rs_147355465

4 SubmittersRCV000892790RCV003222167RCV004958233
NM_001199138.2(NLRC4):c.1651A>T (p.Ile551Phe) SNV
Germline		 Chr2:32250213 Conflicting classifications of pathogenicity Periodic fever-infantile enterocolitis-autoinflammatory syndrome
Familial cold autoinflammatory syndrome 4
Atopic eczema
NLRC4-related disorder		 Criteria Provided
Conflicting Classifications
 CA1601950 rs_781002536

3 SubmittersRCV001441723RCV005626264RCV004749533
NM_144687.4(NLRP12):c.2047G>A (p.Gly683Arg) SNV
Germline		 Chr19:53809612 Conflicting classifications of pathogenicity Familial cold autoinflammatory syndrome 2
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA9639282 rs_145989421

2 SubmittersRCV001483761RCV003243368
NM_144687.4(NLRP12):c.1820A>C (p.Gln607Pro) SNV
Germline		 Chr19:53809839 Conflicting classifications of pathogenicity Familial cold autoinflammatory syndrome 2
NLRP12-related disorder
Autoinflammatory syndrome
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA9639345 rs_370229918

5 SubmittersRCV000905110RCV003910814RCV002264076RCV004028555
NM_001199138.2(NLRC4):c.2631G>A (p.Val877=) SNV
Germline		 Chr2:32235552 Conflicting classifications of pathogenicity Autoinflammatory syndrome
Familial cold autoinflammatory syndrome 4
Periodic fever-infantile enterocolitis-autoinflammatory syndrome
NLRC4-related disorder		 Criteria Provided
Conflicting Classifications
 CA1601738 rs_544474213

3 SubmittersRCV002264097RCV002066014RCV003895625
NM_001199138.2(NLRC4):c.2629G>A (p.Val877Met) SNV
Germline		 Chr2:32235554 Conflicting classifications of pathogenicity Periodic fever-infantile enterocolitis-autoinflammatory syndrome
Familial cold autoinflammatory syndrome 4
Condition: not provided
Autoinflammatory syndrome
not specified		 Criteria Provided
Conflicting Classifications
 CA1601739 rs_147021864

4 SubmittersRCV000918927RCV001091366RCV002264092RCV005408079
NM_001199138.2(NLRC4):c.1357C>T (p.Arg453Ter) SNV
Germline		 Chr2:32250507 Conflicting classifications of pathogenicity Periodic fever-infantile enterocolitis-autoinflammatory syndrome
Familial cold autoinflammatory syndrome 4
NLRC4-related disorder
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA1602006 rs_765641913

3 SubmittersRCV000923633RCV004749544RCV003132123
NM_001199138.2(NLRC4):c.1080A>G (p.Thr360=) SNV
Germline		 Chr2:32250784 Conflicting classifications of pathogenicity Familial cold autoinflammatory syndrome 4
Periodic fever-infantile enterocolitis-autoinflammatory syndrome
Autoinflammatory syndrome		 Criteria Provided
Conflicting Classifications
 CA1602046 rs_748510736

2 SubmittersRCV000934720RCV002264103
NM_144687.4(NLRP12):c.2736G>A (p.Thr912=) SNV
Germline		 Chr19:53801247 Conflicting classifications of pathogenicity Familial cold autoinflammatory syndrome 2
Autoinflammatory syndrome		 Criteria Provided
Conflicting Classifications
 CA9638947 rs_372372169

2 SubmittersRCV001406510RCV002264110
NM_144687.4(NLRP12):c.2222A>G (p.Asn741Ser) SNV
Germline		 Chr19:53807516 Conflicting classifications of pathogenicity Autoinflammatory syndrome
Familial cold autoinflammatory syndrome 2		 Criteria Provided
Conflicting Classifications
 CA9639183 rs_548804330

2 SubmittersRCV002264101RCV000932105
NM_144687.4(NLRP12):c.1281G>A (p.Thr427=) SNV
Germline		 Chr19:53810378 Conflicting classifications of pathogenicity Familial cold autoinflammatory syndrome 2
Autoinflammatory syndrome		 Criteria Provided
Conflicting Classifications
 CA9639468 rs_528087095

2 SubmittersRCV001459171RCV002264100
NM_001199138.2(NLRC4):c.1569C>T (p.Ile523=) SNV
Germline		 Chr2:32250295 Conflicting classifications of pathogenicity Autoinflammatory syndrome
Condition: not provided
Periodic fever-infantile enterocolitis-autoinflammatory syndrome
Familial cold autoinflammatory syndrome 4		 Criteria Provided
Conflicting Classifications
 CA1601964 rs_758432190

3 SubmittersRCV002264125RCV003883519RCV001482908
NM_001199138.2(NLRC4):c.945G>A (p.Lys315=) SNV
Germline		 Chr2:32250919 Conflicting classifications of pathogenicity Autoinflammatory syndrome
Familial cold autoinflammatory syndrome 4
Periodic fever-infantile enterocolitis-autoinflammatory syndrome		 Criteria Provided
Conflicting Classifications
 CA1602057 rs_746822837

2 SubmittersRCV002264127RCV001484322
NM_001199138.2(NLRC4):c.549C>T (p.Ala183=) SNV
Germline		 Chr2:32251315 Conflicting classifications of pathogenicity Periodic fever-infantile enterocolitis-autoinflammatory syndrome
Familial cold autoinflammatory syndrome 4
Autoinflammatory syndrome		 Criteria Provided
Conflicting Classifications
 CA425621345 rs_1573494931

2 SubmittersRCV002549592RCV002264134
NM_001199138.2(NLRC4):c.514G>A (p.Gly172Ser) SNV
Germline		 Chr2:32251350 Conflicting classifications of pathogenicity Condition: not provided
Periodic fever-infantile enterocolitis-autoinflammatory syndrome
Familial cold autoinflammatory syndrome 4		 Criteria Provided
Conflicting Classifications
 CA346515767 rs_1573495011

2 SubmittersRCV000997114RCV001858853
NM_002661.5(PLCG2):c.1014C>T (p.Ser338=) SNV
Germline		 Chr16:81893736 Conflicting classifications of pathogenicity Condition: not provided
Familial cold autoinflammatory syndrome 3		 Criteria Provided
Conflicting Classifications
 CA8193552 rs_200149635

2 SubmittersRCV000996351RCV001514318
NM_144687.4(NLRP12):c.1752G>C (p.Ser584=) SNV
Germline		 Chr19:53809907 Conflicting classifications of pathogenicity Condition: not provided
Familial cold autoinflammatory syndrome 2		 Criteria Provided
Conflicting Classifications
 CA9639356 rs_769227978

2 SubmittersRCV000997003RCV002067621
NM_002661.5(PLCG2):c.3343C>T (p.Pro1115Ser) SNV
Germline		 Chr16:81939921 Conflicting classifications of pathogenicity Familial cold autoinflammatory syndrome 3
Familial cold autoinflammatory syndrome 3
Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA8194693 rs_372606303

3 SubmittersRCV001065204RCV002489690RCV004030576
NM_144687.4(NLRP12):c.395A>G (p.Tyr132Cys) SNV
Germline		 Chr19:53811264 Conflicting classifications of pathogenicity Familial cold autoinflammatory syndrome 2
Inborn genetic diseases
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA9639722 rs_781619673

4 SubmittersRCV001055923RCV002553804RCV004792688
NM_144687.4(NLRP12):c.2182C>T (p.Arg728Trp) SNV
Germline		 Chr19:53807556 Conflicting classifications of pathogenicity Condition: not provided
Familial cold autoinflammatory syndrome 2		 Criteria Provided
Conflicting Classifications
 CA9639201 rs_764354581

2 SubmittersRCV001091263RCV001134053
NM_144687.4(NLRP12):c.308C>T (p.Pro103Leu) SNV
Germline		 Chr19:53814970 Conflicting classifications of pathogenicity Condition: not provided
Familial cold autoinflammatory syndrome 2		 Criteria Provided
Conflicting Classifications
 CA9639767 rs_141436635

2 SubmittersRCV001091268RCV003495231
NM_001243133.2(NLRP3):c.476G>T (p.Ser159Ile) SNV
Germline		 Chr1:247423925 Conflicting classifications of pathogenicity Familial amyloid nephropathy with urticaria AND deafness
Chronic infantile neurological, cutaneous and articular syndrome
Familial cold autoinflammatory syndrome 1
Cryopyrin associated periodic syndrome
NLRP3-related disorder		 Criteria Provided
Conflicting Classifications
 CA1494878 rs_374170024

3 SubmittersRCV001101930RCV001101932RCV001101931RCV002556047RCV004536155
NM_001243133.2(NLRP3):c.1780T>C (p.Leu594=) SNV
Germline		 Chr1:247425229 Conflicting classifications of pathogenicity Chronic infantile neurological, cutaneous and articular syndrome
Familial cold autoinflammatory syndrome 1
Familial amyloid nephropathy with urticaria AND deafness
Cryopyrin associated periodic syndrome		 Criteria Provided
Conflicting Classifications
 CA40692234 rs_895366086

2 SubmittersRCV001098453RCV001098454RCV001098455RCV002069660
NM_144687.4(NLRP12):c.2756G>A (p.Arg919Gln) SNV
Germline		 Chr19:53801227 Conflicting classifications of pathogenicity Familial cold autoinflammatory syndrome 2 Criteria Provided
Conflicting Classifications
 CA9638939 rs_201596732

2 SubmittersRCV001135431
NM_144687.4(NLRP12):c.2574A>G (p.Leu858=) SNV
Germline		 Chr19:53803963 Conflicting classifications of pathogenicity Familial cold autoinflammatory syndrome 2 Criteria Provided
Conflicting Classifications
 CA9639039 rs_750552324

2 SubmittersRCV001130382
NM_144687.4(NLRP12):c.2120C>T (p.Ala707Val) SNV
Germline		 Chr19:53807618 Conflicting classifications of pathogenicity Familial cold autoinflammatory syndrome 2
Condition: not provided
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA9639221 rs_202169378

4 SubmittersRCV001135552RCV001200245RCV002558292
NM_144687.4(NLRP12):c.538G>A (p.Gly180Ser) SNV
Germline		 Chr19:53811121 Conflicting classifications of pathogenicity Familial cold autoinflammatory syndrome 2 Criteria Provided
Conflicting Classifications
 CA9639683 rs_563974183

2 SubmittersRCV001135678
NM_144687.4(NLRP12):c.19A>G (p.Arg7Gly) SNV
Germline		 Chr19:53824156 Conflicting classifications of pathogenicity Familial cold autoinflammatory syndrome 2 Criteria Provided
Conflicting Classifications
 CA9639860 rs_773831845

2 SubmittersRCV001131322
NM_001243133.2(NLRP3):c.564C>A (p.Ile188=) SNV
Germline		 Chr1:247424013 Conflicting classifications of pathogenicity 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		 Criteria Provided
Conflicting Classifications
 CA1494895 rs_147631017

2 SubmittersRCV001224671RCV002484217
NM_001243133.2(NLRP3):c.2686T>C (p.Ser896Pro) SNV
Germline		 Chr1:247443994 Conflicting classifications of pathogenicity Cryopyrin associated periodic syndrome
Condition: not provided
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		 Criteria Provided
Conflicting Classifications
 CA1495337 rs_151205016

4 SubmittersRCV001216824RCV001587236RCV002491671
NM_001243133.2(NLRP3):c.2982G>C (p.Gln994His) SNV
Germline		 Chr1:247444798 Conflicting classifications of pathogenicity Cryopyrin associated periodic syndrome
Inborn genetic diseases
Condition: not provided
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		 Criteria Provided
Conflicting Classifications
 CA1495407 rs_148150585

4 SubmittersRCV001217592RCV004960561RCV001571692RCV002491676
NM_001199138.2(NLRC4):c.129C>T (p.Cys43=) SNV
Germline		 Chr2:32252552 Conflicting classifications of pathogenicity Periodic fever-infantile enterocolitis-autoinflammatory syndrome
Familial cold autoinflammatory syndrome 4
Autoinflammatory syndrome
NLRC4-related disorder		 Criteria Provided
Conflicting Classifications
 CA44755235 rs_200374202

3 SubmittersRCV001223843RCV002264234RCV003963132
NM_144687.4(NLRP12):c.1790G>A (p.Ser597Asn) SNV
Germline		 Chr19:53809869 Conflicting classifications of pathogenicity Familial cold autoinflammatory syndrome 2
Autoinflammatory syndrome
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA9639350 rs_748314396

3 SubmittersRCV001222826RCV002264232RCV004032454
NM_001243133.2(NLRP3):c.1090C>A (p.Arg364=) SNV
Germline		 Chr1:247424539 Conflicting classifications of pathogenicity 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		 Criteria Provided
Conflicting Classifications
 CA40691422 rs_994458759

2 SubmittersRCV001226283RCV002484230
NM_002661.5(PLCG2):c.2122G>C (p.Ala708Pro) SNV
Germline		 Chr16:81919551 Pathogenic Familial cold autoinflammatory syndrome 3
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA396901943 rs_1381167403

2 SubmittersRCV001227511RCV005367770
NM_144687.4(NLRP12):c.1952C>A (p.Ser651Ter) SNV
Germline		 Chr19:53809707 Conflicting classifications of pathogenicity Familial cold autoinflammatory syndrome 2 Criteria Provided
Conflicting Classifications
 CA9639309 rs_781361326

2 SubmittersRCV001269323
NM_002661.5(PLCG2):c.97T>C (p.Phe33Leu) SNV
Germline		 Chr16:81786086 Conflicting classifications of pathogenicity Familial cold autoinflammatory syndrome 3
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA8193023 rs_773040139

2 SubmittersRCV001300282RCV003222295
NM_002661.5(PLCG2):c.3516C>T (p.Ser1172=) SNV
Germline		 Chr16:81946209 Conflicting classifications of pathogenicity Familial cold autoinflammatory syndrome 3
Familial cold autoinflammatory syndrome 3
Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation		 Criteria Provided
Conflicting Classifications
 CA8194755 rs_773778524

2 SubmittersRCV001305030RCV002504463
NM_144687.4(NLRP12):c.3089G>A (p.Arg1030Gln) SNV
Germline		 Chr19:53795868 Conflicting classifications of pathogenicity Familial cold autoinflammatory syndrome 2
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA9638780 rs_751680149

2 SubmittersRCV001307227RCV004597980
NM_002661.5(PLCG2):c.3575G>C (p.Ser1192Thr) SNV
Germline		 Chr16:81956699 Conflicting classifications of pathogenicity Condition: not provided
Familial cold autoinflammatory syndrome 3		 Criteria Provided
Conflicting Classifications
 CA8194782 rs_761797236

2 SubmittersRCV001311460RCV001871776
NM_001199138.2(NLRC4):c.26G>A (p.Arg9Gln) SNV
Germline		 Chr2:32252655 Conflicting classifications of pathogenicity Familial cold autoinflammatory syndrome 4
Periodic fever-infantile enterocolitis-autoinflammatory syndrome
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA1602229 rs_374574191

3 SubmittersRCV001320595RCV004035010
NM_002661.5(PLCG2):c.2503C>A (p.Leu835Ile) SNV
Germline		 Chr16:81927167 Conflicting classifications of pathogenicity Familial cold autoinflammatory syndrome 3
Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation
Familial cold autoinflammatory syndrome 3
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA8194296 rs_186829827

3 SubmittersRCV001322211RCV002493683RCV002511078
NM_002661.5(PLCG2):c.2739+19G>A SNV
Germline		 Chr16:81931673 Conflicting classifications of pathogenicity Familial cold autoinflammatory syndrome 3
Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation
Familial cold autoinflammatory syndrome 3		 Criteria Provided
Conflicting Classifications
 CA8194411 rs_776050949

2 SubmittersRCV001317892RCV002493662
NM_002661.5(PLCG2):c.564+19C>T SNV
Germline		 Chr16:81869317 Conflicting classifications of pathogenicity Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation
Familial cold autoinflammatory syndrome 3		 Criteria Provided
Conflicting Classifications
 CA8193269 rs_564767670

2 SubmittersRCV001335968RCV002070208
NM_144687.4(NLRP12):c.1A>T (p.Met1Leu) SNV
Germline		 Chr19:53824174 Conflicting classifications of pathogenicity Familial cold autoinflammatory syndrome 2
Condition: not provided
Autoinflammatory syndrome		 Criteria Provided
Conflicting Classifications
 CA407419532 rs_1386409873

3 SubmittersRCV001348316RCV001553069RCV002264275
NM_001243133.2(NLRP3):c.1371G>T (p.Glu457Asp) SNV
Germline		 Chr1:247424820 Conflicting classifications of pathogenicity Cryopyrin associated periodic syndrome
Hearing loss, autosomal dominant 34, with or without inflammation
Chronic infantile neurological, cutaneous and articular syndrome
Familial cold autoinflammatory syndrome 1
Familial amyloid nephropathy with urticaria AND deafness
Keratitis fugax hereditaria		 Criteria Provided
Conflicting Classifications
 CA1495020 rs_191754224

2 SubmittersRCV001367241RCV002476676
NM_001199138.2(NLRC4):c.1476G>T (p.Arg492=) SNV
Germline		 Chr2:32250388 Conflicting classifications of pathogenicity Periodic fever-infantile enterocolitis-autoinflammatory syndrome
Familial cold autoinflammatory syndrome 4
Autoinflammatory syndrome		 Criteria Provided
Conflicting Classifications
 CA44752480 rs_952121500

2 SubmittersRCV001432383RCV002264315
NM_001199138.2(NLRC4):c.822G>C (p.Met274Ile) SNV
Germline		 Chr2:32251042 Conflicting classifications of pathogenicity Periodic fever-infantile enterocolitis-autoinflammatory syndrome
Familial cold autoinflammatory syndrome 4
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA1602084 rs_140557163

2 SubmittersRCV001427813RCV004038249
NM_001199138.2(NLRC4):c.249C>T (p.Asp83=) SNV
Germline		 Chr2:32252432 Conflicting classifications of pathogenicity Periodic fever-infantile enterocolitis-autoinflammatory syndrome
Familial cold autoinflammatory syndrome 4
Autoinflammatory syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA1602193 rs_117094017

3 SubmittersRCV001444468RCV002264321RCV003334053
NM_001199138.2(NLRC4):c.105C>T (p.Arg35=) SNV
Germline		 Chr2:32252576 Conflicting classifications of pathogenicity Familial cold autoinflammatory syndrome 4
Periodic fever-infantile enterocolitis-autoinflammatory syndrome
Autoinflammatory syndrome		 Criteria Provided
Conflicting Classifications
 CA1602220 rs_751915363

2 SubmittersRCV001436076RCV002264320
NM_002661.5(PLCG2):c.88G>T (p.Val30Leu) SNV
Germline		 Chr16:81786077 Conflicting classifications of pathogenicity Familial cold autoinflammatory syndrome 3
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA8193021 rs_372502550

2 SubmittersRCV001425620RCV002555515
NM_001199138.2(NLRC4):c.2957A>G (p.Lys986Arg) SNV
Germline		 Chr2:32224591 Conflicting classifications of pathogenicity Periodic fever-infantile enterocolitis-autoinflammatory syndrome
Familial cold autoinflammatory syndrome 4
Autoinflammatory syndrome		 Criteria Provided
Conflicting Classifications
 CA1601637 rs_552117780

2 SubmittersRCV001472041RCV002264339
NM_001199138.2(NLRC4):c.2835G>A (p.Ala945=) SNV
Germline		 Chr2:32224713 Conflicting classifications of pathogenicity Periodic fever-infantile enterocolitis-autoinflammatory syndrome
Familial cold autoinflammatory syndrome 4
Autoinflammatory syndrome		 Criteria Provided
Conflicting Classifications
 CA425461565 rs_1464438302

2 SubmittersRCV001459754RCV002264335
NM_001199138.2(NLRC4):c.1164G>C (p.Arg388=) SNV
Germline		 Chr2:32250700 Conflicting classifications of pathogenicity Periodic fever-infantile enterocolitis-autoinflammatory syndrome
Familial cold autoinflammatory syndrome 4
Autoinflammatory syndrome		 Criteria Provided
Conflicting Classifications
 CA425621798 rs_2148942481

2 SubmittersRCV001455360RCV002264333
NM_001199138.2(NLRC4):c.298G>A (p.Asp100Asn) SNV
Germline		 Chr2:32251566 Conflicting classifications of pathogenicity Familial cold autoinflammatory syndrome 4
Periodic fever-infantile enterocolitis-autoinflammatory syndrome
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA1602162 rs_149157799

2 SubmittersRCV001457772RCV004038563
NM_144687.4(NLRP12):c.2384G>A (p.Arg795Gln) SNV
Germline		 Chr19:53805310 Conflicting classifications of pathogenicity Familial cold autoinflammatory syndrome 2
Autoinflammatory syndrome
NLRP12-related disorder		 Criteria Provided
Conflicting Classifications
 CA9639103 rs_373954247

4 SubmittersRCV001454648RCV002264331RCV003394060
NM_144687.4(NLRP12):c.2253G>A (p.Arg751=) SNV
Germline		 Chr19:53805441 Conflicting classifications of pathogenicity Familial cold autoinflammatory syndrome 2
Autoinflammatory syndrome		 Criteria Provided
Conflicting Classifications
 CA310065746 rs_747968386

2 SubmittersRCV001489870RCV002264353
NM_002661.5(PLCG2):c.3493G>A (p.Val1165Ile) SNV
Germline		 Chr16:81946186 Conflicting classifications of pathogenicity Condition: not provided
Familial cold autoinflammatory syndrome 3
Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation
Familial cold autoinflammatory syndrome 3		 Criteria Provided
Conflicting Classifications
 CA8194751 rs_372557475

4 SubmittersRCV001508785RCV002506590RCV002567997
NM_002661.5(PLCG2):c.2486C>T (p.Thr829Ile) SNV
Germline		 Chr16:81927150 Conflicting classifications of pathogenicity Condition: not provided
Familial cold autoinflammatory syndrome 3		 Criteria Provided
Conflicting Classifications
 CA8194290 rs_767593863

2 SubmittersRCV001534015RCV002568222
NM_001243133.2(NLRP3):c.2575T>C (p.Tyr859His) SNV
Germline		 Chr1:247436052 Pathogenic/Likely pathogenic Condition: not provided
Hearing loss, autosomal dominant 34, with or without inflammation
Chronic infantile neurological, cutaneous and articular syndrome
Familial cold autoinflammatory syndrome 1
Familial amyloid nephropathy with urticaria AND deafness
Keratitis fugax hereditaria
Cryopyrin associated periodic syndrome
NLRP3-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA345562272 rs_2103174031

5 SubmittersRCV001547811RCV002495875RCV003594137RCV004541995
NM_144687.4(NLRP12):c.2072+1G>C SNV
Unknown		 Chr19:53809586 Likely pathogenic Familial cold autoinflammatory syndrome 2 Criteria Provided
Single Submitter
 CA9639272 rs_766603266

1 SubmittersRCV001729982
NM_001199138.2(NLRC4):c.1016T>C (p.Leu339Pro) SNV
Germline		 Chr2:32250848 Pathogenic Familial cold autoinflammatory syndrome 4 No Assertion Criteria Provided
 CA346513757 rs_2148942588

1 SubmittersRCV001730172
NM_002661.5(PLCG2):c.1855G>A (p.Glu619Lys) SNV
Germline		 Chr16:81910641 Conflicting classifications of pathogenicity Condition: not provided
Familial cold autoinflammatory syndrome 3
Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation		 Criteria Provided
Conflicting Classifications
 CA8193957 rs_763166039

3 SubmittersRCV001773003RCV002488600
NM_144687.4(NLRP12):c.2879T>A (p.Leu960Ter) SNV
Germline		 Chr19:53798291 Likely pathogenic Familial cold autoinflammatory syndrome 2 Criteria Provided
Single Submitter
 CA9638879 rs_745881796

1 SubmittersRCV001782530
NM_002661.5(PLCG2):c.3198+6G>A SNV
Germline		 Chr16:81937909 Conflicting classifications of pathogenicity Condition: not provided
Familial cold autoinflammatory syndrome 3		 Criteria Provided
Conflicting Classifications
 CA724736241 rs_752647511

2 SubmittersRCV001812535RCV002542348
NM_002661.5(PLCG2):c.2095G>A (p.Gly699Ser) SNV
Germline		 Chr16:81919524 Likely pathogenic Familial cold autoinflammatory syndrome 3 Criteria Provided
Single Submitter
 CA8194089 rs_753618006

1 SubmittersRCV001824263
NM_144687.4(NLRP12):c.2055C>G (p.His685Gln) SNV
Germline		 Chr19:53809604 Conflicting classifications of pathogenicity Familial cold autoinflammatory syndrome 2
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA9639277 rs_374387350

2 SubmittersRCV001870441RCV005453353
NM_001199138.2(NLRC4):c.704T>C (p.Met235Thr) SNV
Germline		 Chr2:32251160 Conflicting classifications of pathogenicity Familial cold autoinflammatory syndrome 4
Periodic fever-infantile enterocolitis-autoinflammatory syndrome
Autoinflammatory syndrome
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA1602098 rs_770505969

3 SubmittersRCV001928506RCV002264427RCV003375437
NM_002661.5(PLCG2):c.3682C>T (p.Arg1228Trp) SNV
Germline		 Chr16:81956806 Conflicting classifications of pathogenicity Familial cold autoinflammatory syndrome 3
Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation
Familial cold autoinflammatory syndrome 3
Condition: not provided
not specified		 Criteria Provided
Conflicting Classifications
 CA8194802 rs_202108152

4 SubmittersRCV002484752RCV001985418RCV005242137RCV005437441
NM_001243133.2(NLRP3):c.2273T>C (p.Val758Ala) SNV
Germline		 Chr1:247429707 Conflicting classifications of pathogenicity Cryopyrin associated periodic syndrome
Condition: not provided
Familial amyloid nephropathy with urticaria AND deafness
Hearing loss, autosomal dominant 34, with or without inflammation
Keratitis fugax hereditaria
Chronic infantile neurological, cutaneous and articular syndrome
Familial cold autoinflammatory syndrome 1
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA1495164 rs_770791406

4 SubmittersRCV001985457RCV002260715RCV002484754RCV004955964
NM_144687.4(NLRP12):c.2337C>T (p.Gly779=) SNV
Germline		 Chr19:53805357 Conflicting classifications of pathogenicity Familial cold autoinflammatory syndrome 2
Autoinflammatory syndrome		 Criteria Provided
Conflicting Classifications
 CA508776961 rs_2091941014

2 SubmittersRCV001905501RCV002264406
NM_001199138.2(NLRC4):c.1972G>C (p.Glu658Gln) SNV
Germline		 Chr2:32249892 Conflicting classifications of pathogenicity Familial cold autoinflammatory syndrome 4
Periodic fever-infantile enterocolitis-autoinflammatory syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA1601894 rs_751001500

2 SubmittersRCV002035783RCV005256840
NM_144687.4(NLRP12):c.2244G>A (p.Arg748=) SNV
Germline		 Chr19:53805450 Conflicting classifications of pathogenicity Familial cold autoinflammatory syndrome 2
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA508777260 rs_2122612115

2 SubmittersRCV001878972RCV005443426
NM_144687.4(NLRP12):c.2757-1G>T SNV
Germline		 Chr19:53798414 Conflicting classifications of pathogenicity Familial cold autoinflammatory syndrome 2
Autoinflammatory syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA9638910 rs_143515989

3 SubmittersRCV001913172RCV002264423RCV003426242
NM_144687.4(NLRP12):c.1908C>A (p.Ile636=) SNV
Germline		 Chr19:53809751 Conflicting classifications of pathogenicity Autoinflammatory syndrome
Familial cold autoinflammatory syndrome 2		 Criteria Provided
Conflicting Classifications
 CA508853848 rs_1454297839

2 SubmittersRCV002264456RCV002202220
NM_144687.4(NLRP12):c.2754G>A (p.Leu918=) SNV
Germline		 Chr19:53801229 Conflicting classifications of pathogenicity Familial cold autoinflammatory syndrome 2 Criteria Provided
Conflicting Classifications
 CA508772292 rs_61741347

2 SubmittersRCV002220557
NM_002661.5(PLCG2):c.2036C>G (p.Ser679Cys) SNV
Germline		 Chr16:81912698 Conflicting classifications of pathogenicity Familial cold autoinflammatory syndrome 3
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA8194044 rs_374768937

2 SubmittersRCV002100336RCV003015243
NM_144687.4(NLRP12):c.3042T>C (p.Gly1014=) SNV
Germline		 Chr19:53795915 Conflicting classifications of pathogenicity Familial cold autoinflammatory syndrome 2
Autoinflammatory syndrome		 Criteria Provided
Conflicting Classifications
 CA9638794 rs_764841108

2 SubmittersRCV002135591RCV002264468
NM_144687.4(NLRP12):c.78G>A (p.Lys26=) SNV
Germline		 Chr19:53824097 Conflicting classifications of pathogenicity Familial cold autoinflammatory syndrome 2
Autoinflammatory syndrome		 Criteria Provided
Conflicting Classifications
 CA9639842 rs_148263031

3 SubmittersRCV002116557RCV002264466
NM_144687.4(NLRP12):c.436C>T (p.Arg146Cys) SNV
Germline		 Chr19:53811223 Conflicting classifications of pathogenicity Familial cold autoinflammatory syndrome 2
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA9639706 rs_200736514

2 SubmittersRCV002106384RCV003053434
NM_001199138.2(NLRC4):c.1528G>A (p.Ala510Thr) SNV
Germline		 Chr2:32250336 Conflicting classifications of pathogenicity Periodic fever-infantile enterocolitis-autoinflammatory syndrome
Familial cold autoinflammatory syndrome 4
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA1601979 rs_199646963

2 SubmittersRCV002129632RCV004793731
NM_001243133.2(NLRP3):c.1650G>A (p.Lys550=) SNV
Germline		 Chr1:247425099 Conflicting classifications of pathogenicity Cryopyrin associated periodic syndrome
Familial amyloid nephropathy with urticaria AND deafness
Keratitis fugax hereditaria
Chronic infantile neurological, cutaneous and articular syndrome
Hearing loss, autosomal dominant 34, with or without inflammation
Familial cold autoinflammatory syndrome 1		 Criteria Provided
Conflicting Classifications
 CA1495053 rs_748768461

2 SubmittersRCV002180039RCV005025685
NM_001199138.2(NLRC4):c.1550G>C (p.Cys517Ser) SNV
Germline		 Chr2:32250314 Conflicting classifications of pathogenicity Autoinflammatory syndrome
Inborn genetic diseases
Condition: not provided
Periodic fever-infantile enterocolitis-autoinflammatory syndrome
Familial cold autoinflammatory syndrome 4		 Criteria Provided
Conflicting Classifications
 CA1601971 rs_779390608

4 SubmittersRCV002262085RCV003095941RCV003222408RCV003774822
NM_001199138.2(NLRC4):c.648C>A (p.Leu216=) SNV
Germline		 Chr2:32251216 Conflicting classifications of pathogenicity Autoinflammatory syndrome
Periodic fever-infantile enterocolitis-autoinflammatory syndrome
Familial cold autoinflammatory syndrome 4		 Criteria Provided
Conflicting Classifications
 CA425621266 rs_1474523535

2 SubmittersRCV002262106RCV003774824
NM_144687.4(NLRP12):c.1060C>G (p.Leu354Val) SNV
Germline		 Chr19:53810599 Conflicting classifications of pathogenicity Autoinflammatory syndrome
Familial cold autoinflammatory syndrome 2		 Criteria Provided
Conflicting Classifications
 CA407414999 rs_1435117815

2 SubmittersRCV002262110RCV003095943
NM_144687.4(NLRP12):c.2487G>C (p.Leu829=) SNV
Germline		 Chr19:53804050 Conflicting classifications of pathogenicity Autoinflammatory syndrome
Familial cold autoinflammatory syndrome 2		 Criteria Provided
Conflicting Classifications
 CA9639056 rs_143499267

2 SubmittersRCV002262135RCV003095945
NM_144687.4(NLRP12):c.2766C>T (p.Ile922=) SNV
Germline		 Chr19:53798404 Conflicting classifications of pathogenicity Autoinflammatory syndrome
Familial cold autoinflammatory syndrome 2		 Criteria Provided
Conflicting Classifications
 CA508770847 rs_1430424840

2 SubmittersRCV002262137RCV003095947
NM_144687.4(NLRP12):c.2887G>A (p.Glu963Lys) SNV
Germline		 Chr19:53798283 Conflicting classifications of pathogenicity Autoinflammatory syndrome
Familial cold autoinflammatory syndrome 2
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA9638878 rs_139165669

3 SubmittersRCV002262138RCV003095948RCV004793757
NM_002661.5(PLCG2):c.3420T>A (p.Asp1140Glu) SNV
Germline		 Chr16:81939998 Likely pathogenic Familial cold autoinflammatory syndrome 3 Criteria Provided
Single Submitter
 CA396908776 rs_746749620

1 SubmittersRCV002305070
NM_001199138.2(NLRC4):c.1333T>C (p.Ser445Pro) SNV
Germline		 Chr2:32250531 Pathogenic/Likely pathogenic Condition: not provided
Familial cold autoinflammatory syndrome 4
Periodic fever-infantile enterocolitis-autoinflammatory syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA346512691 rs_2466760157

2 SubmittersRCV002469924RCV005227784
NM_144687.4(NLRP12):c.2652G>C (p.Gln884His) SNV
Germline		 Chr19:53801331 Conflicting classifications of pathogenicity Familial cold autoinflammatory syndrome 2
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA310061977 rs_144100614

2 SubmittersRCV002642736RCV003357969
NM_001199138.2(NLRC4):c.2714A>G (p.Glu905Gly) SNV
Germline		 Chr2:32235469 Conflicting classifications of pathogenicity Inborn genetic diseases
Periodic fever-infantile enterocolitis-autoinflammatory syndrome
Familial cold autoinflammatory syndrome 4		 Criteria Provided
Conflicting Classifications
 CA1601724 rs_774924596

2 SubmittersRCV002920618RCV003777948
NM_001199138.2(NLRC4):c.2945C>T (p.Ala982Val) SNV
Germline		 Chr2:32224603 Conflicting classifications of pathogenicity Condition: not provided
Familial cold autoinflammatory syndrome 4
Periodic fever-infantile enterocolitis-autoinflammatory syndrome		 Criteria Provided
Conflicting Classifications
 CA1601640 rs_147896952

2 SubmittersRCV003327025RCV005209612
NM_144687.4(NLRP12):c.2636C>T (p.Thr879Ile) SNV
Germline		 Chr19:53801347 Conflicting classifications of pathogenicity Inborn genetic diseases
Familial cold autoinflammatory syndrome 2		 Criteria Provided
Conflicting Classifications
 CA9638969 rs_776472768

2 SubmittersRCV004495446RCV005065151
NM_001243133.2(NLRP3):c.2769A>T (p.Gly923=) SNV
Germline		 Chr1:247444077 Conflicting classifications of pathogenicity 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
Cryopyrin associated periodic syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV005026333RCV005112697