Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
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 Hearing loss, autosomal dominant 34, with or without inflammation Keratitis fugax hereditaria Chronic infantile neurological, cutaneous and articular syndrome Familial cold autoinflammatory syndrome 1 Familial amyloid nephropathy with urticaria AND deafness	Criteria Provided Multiple Submitters No Conflicts	CA280958	rs_121908146	10 SubmittersRCV000004618 RCV000214900 RCV000701554 RCV002262553 RCV002476928
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 Chronic infantile neurological, cutaneous and articular syndrome Familial cold autoinflammatory syndrome 1 Familial amyloid nephropathy with urticaria AND deafness Hearing loss, autosomal dominant 34, with or without inflammation Cryopyrin associated periodic syndrome Autoinflammatory syndrome Kidney disorder Hearing loss, autosomal dominant 34, with or without inflammation Keratitis fugax hereditaria Chronic infantile neurological, cutaneous and articular syndrome Familial cold autoinflammatory syndrome 1 Familial amyloid nephropathy with urticaria AND deafness NLRP3-related disorder	Criteria Provided Conflicting Classifications	CA280962	rs_121908147	17 SubmittersRCV000004619 RCV000224634 RCV000248492 RCV000312024 RCV000509555 RCV000791008 RCV001082121 RCV002262554 RCV002293975 RCV003224088 RCV004528070
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 SubmittersRCV000004620 RCV002262555
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 SubmittersRCV000004621 RCV000084171 RCV001091235 RCV001225906
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 Cryopyrin associated periodic syndrome Autoinflammatory syndrome	Criteria Provided Multiple Submitters No Conflicts	CA116784	rs_121908150	9 SubmittersRCV000004622 RCV000004623 RCV000221297 RCV001067187 RCV002262556
NM_001243133.2(NLRP3):c.1705G>C (p.Gly569Arg)	SNV Germline	Chr1:247425154	Pathogenic	Familial amyloid nephropathy with urticaria AND deafness Familial cold autoinflammatory syndrome 1	No Assertion Criteria Provided	CA116788	rs_121908151	2 SubmittersRCV000004624 RCV000084204
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 SubmittersRCV000004625 RCV000084210
NM_001243133.2(NLRP3):c.907G>A (p.Asp303Asn)	SNV Germline	Chr1:247424356	Pathogenic	Chronic infantile neurological, cutaneous and articular syndrome Familial amyloid nephropathy with urticaria AND deafness Familial cold autoinflammatory syndrome 1 Cryopyrin associated periodic syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA116796	rs_121908153	8 SubmittersRCV000004626 RCV000004627 RCV000084240 RCV000527671 RCV000214348
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 SubmittersRCV000004628 RCV000084248
NM_001243133.2(NLRP3):c.1058T>C (p.Leu353Pro)	SNV Germline	Chr1:247424507	Pathogenic	Familial cold autoinflammatory syndrome 1 Condition: not provided not specified 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 Multiple Submitters No Conflicts	CA280970	rs_28937896	6 SubmittersRCV000004629 RCV000219571 RCV001000586 RCV000795773 RCV000762894
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 NLRP12-related disorder Autoinflammatory syndrome	Criteria Provided Conflicting Classifications	CA224940	rs_104895570	10 SubmittersRCV000084148 RCV000283785 RCV000560378 RCV003915109 RCV002262684
NM_001243133.2(NLRP3):c.1043C>T (p.Thr348Met)	SNV Germline	Chr1:247424492	Pathogenic	Familial cold autoinflammatory syndrome 1 Condition: not provided Familial amyloid nephropathy with urticaria AND deafness Cryopyrin associated periodic syndrome 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 SubmittersRCV000084167 RCV000214584 RCV000449533 RCV000540218 RCV002262687 RCV002464107
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 SubmittersRCV000084168 RCV002262688 RCV003593907
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 SubmittersRCV000084170 RCV001854466 RCV003152680
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 SubmittersRCV000084175 RCV000221845 RCV001854467
NM_001243133.2(NLRP3):c.1306A>G (p.Thr436Ala)	SNV Germline	Chr1:247424755	Conflicting classifications of pathogenicity	Familial cold autoinflammatory syndrome 1 Cryopyrin associated periodic syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA281165	rs_180177465	3 SubmittersRCV000084180 RCV000707213 RCV000433450
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 SubmittersRCV000084183 RCV001056510 RCV003114249
NM_001243133.2(NLRP3):c.1315G>A (p.Ala439Thr)	SNV Germline	Chr1:247424764	Pathogenic	Familial cold autoinflammatory syndrome 1 Cryopyrin associated periodic syndrome	Criteria Provided Single Submitter	CA281181	rs_180177430	2 SubmittersRCV000084184 RCV001382397
NM_001243133.2(NLRP3):c.1383C>T (p.Cys461=)	SNV Germline	Chr1:247424832	Conflicting classifications of pathogenicity	Familial cold autoinflammatory syndrome 1 Condition: not provided not specified Cryopyrin associated periodic syndrome Autoinflammatory syndrome	Criteria Provided Conflicting Classifications	CA281201	rs_104895398	6 SubmittersRCV000084189 RCV001682793 RCV001701747 RCV001436812 RCV002262691
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 Autoinflammatory syndrome	Criteria Provided Conflicting Classifications	CA281217	rs_145268073	9 SubmittersRCV000084193 RCV000223458 RCV001085335 RCV001375155 RCV002262693
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 SubmittersRCV000084195 RCV001382398
NM_001243133.2(NLRP3):c.1573G>A (p.Glu525Lys)	SNV Germline	Chr1:247425022	Likely pathogenic	Familial cold autoinflammatory syndrome 1 Cryopyrin associated periodic syndrome	Criteria Provided Single Submitter	CA281234	rs_180177458	2 SubmittersRCV000084198 RCV000803838
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	Criteria Provided Multiple Submitters No Conflicts	CA281254	rs_104895389	3 SubmittersRCV000084203 RCV001224375
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 SubmittersRCV000084205 RCV003593908
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 SubmittersRCV000084206 RCV003236775
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 SubmittersRCV000084219 RCV002285010
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 SubmittersRCV000084220 RCV002513892
NM_001243133.2(NLRP3):c.2576A>G (p.Tyr859Cys)	SNV Germline	Chr1:247436053	Pathogenic/Likely pathogenic	Familial cold autoinflammatory syndrome 1 Condition: not provided Chronic infantile neurological, cutaneous and articular syndrome Keratitis fugax hereditaria Familial amyloid nephropathy with urticaria AND deafness Hearing loss, autosomal dominant 34, with or without inflammation Familial cold autoinflammatory syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA281318	rs_180177452	3 SubmittersRCV000084221 RCV000216746 RCV003389316
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 SubmittersRCV000084225 RCV001857409
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 SubmittersRCV000084226 RCV000308464 RCV000365471 RCV001465871 RCV003229808
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 SubmittersRCV000084227 RCV000217712 RCV001078842 RCV002262695 RCV004529880
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 SubmittersRCV000084230 RCV000788842 RCV002262696 RCV001028056
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 SubmittersRCV000084233 RCV001582575
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 SubmittersRCV000084234 RCV003415857
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 SubmittersRCV000084239 RCV001857410 RCV002227059
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 SubmittersRCV000084242 RCV002514492
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 SubmittersRCV000084243 RCV000217940 RCV001854469
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 SubmittersRCV000084244 RCV000221611 RCV001854470 RCV002262697
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 SubmittersRCV000084247 RCV001043402
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 Familial amyloid nephropathy with urticaria AND deafness	Criteria Provided Multiple Submitters No Conflicts	CA281423	rs_180177470	4 SubmittersRCV000084250 RCV001312141 RCV003593910 RCV002464108
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 not specified Chronic infantile neurological, cutaneous and articular syndrome Autoinflammatory syndrome Inborn genetic diseases Familial amyloid nephropathy with urticaria AND deafness	Criteria Provided Conflicting Classifications	CA281431	rs_180177501	10 SubmittersRCV000084252 RCV000521236 RCV000525710 RCV000825406 RCV001100031 RCV002262699 RCV002513894 RCV001102016
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 Cryopyrin associated periodic syndrome Chronic infantile neurological, cutaneous and articular syndrome Autoinflammatory syndrome Kidney disorder	Criteria Provided Conflicting Classifications	CA281435	rs_180177462	6 SubmittersRCV000084253 RCV000213159 RCV001195579 RCV000344447 RCV001226114 RCV000378566 RCV002262700 RCV002294026
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 SubmittersRCV000084255 RCV001056350
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	Criteria Provided Conflicting Classifications	CA230096	rs_199475953	6 SubmittersRCV000089345 RCV000652408 RCV003330434
NM_001243133.2(NLRP3):c.1584C>T (p.Ala528=)	SNV Germline	Chr1:247425033	Conflicting classifications of pathogenicity	not specified Familial amyloid nephropathy with urticaria AND deafness Familial cold autoinflammatory syndrome 1 Chronic infantile neurological, cutaneous and articular syndrome Autoinflammatory syndrome Cryopyrin associated periodic syndrome	Criteria Provided Conflicting Classifications	CA292567	rs_201644343	4 SubmittersRCV000127222 RCV000268161 RCV000325594 RCV000364278 RCV002262736 RCV002515913
NM_001243133.2(NLRP3):c.2118C>T (p.Leu706=)	SNV Germline	Chr1:247425567	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	CA292573	rs_149493236	5 SubmittersRCV000127224 RCV000396527 RCV000307210 RCV000361891 RCV001312143 RCV000877580 RCV002262737
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 Periodic fever-infantile enterocolitis-autoinflammatory syndrome Familial cold autoinflammatory syndrome 4	Criteria Provided Multiple Submitters No Conflicts	CA170101	rs_587781260	4 SubmittersRCV000132764 RCV000144517 RCV000434682 RCV001857479
NM_001199138.2(NLRC4):c.1009A>T (p.Thr337Ser)	SNV Germline	Chr2:32250855	Pathogenic	Periodic fever-infantile enterocolitis-autoinflammatory syndrome Periodic fever-infantile enterocolitis-autoinflammatory syndrome Familial cold autoinflammatory syndrome 4	Criteria Provided Single Submitter	CA170899	rs_587777840	2 SubmittersRCV000144518 RCV001382868
NM_001199138.2(NLRC4):c.1328A>C (p.His443Pro)	SNV Germline	Chr2:32250536	Pathogenic	Familial cold autoinflammatory syndrome 4 Periodic fever-infantile enterocolitis-autoinflammatory syndrome Familial cold autoinflammatory syndrome 4	Criteria Provided Single Submitter	CA346058	rs_606231460	2 SubmittersRCV000148929 RCV001227277
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 SubmittersRCV000202334 RCV002054245
NM_001243133.2(NLRP3):c.2176A>G (p.Ser726Gly)	SNV Germline	Chr1:247429610	Conflicting classifications of pathogenicity	not specified Familial amyloid nephropathy with urticaria AND deafness Chronic infantile neurological, cutaneous and articular syndrome 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 SubmittersRCV000216458 RCV000303538 RCV000263610 RCV000552226 RCV000626053 RCV001172030 RCV002262814 RCV004532811
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 Chronic infantile neurological, cutaneous and articular syndrome Familial cold autoinflammatory syndrome 1 Cryopyrin associated periodic syndrome	Criteria Provided Conflicting Classifications	CA1495237	rs_141389711	3 SubmittersRCV000218819 RCV001098562 RCV001098560 RCV001098561 RCV001087354
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 SubmittersRCV000220153 RCV000298441 RCV000337870 RCV000394837 RCV000813164
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	7 SubmittersRCV000220345 RCV000277197 RCV000313549 RCV000353278 RCV001082685 RCV001705232 RCV002262815 RCV004532812
NM_001243133.2(NLRP3):c.208G>A (p.Val70Met)	SNV Germline	Chr1:247419008	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 Condition: not provided Cryopyrin associated periodic syndrome Autoinflammatory syndrome	Criteria Provided Conflicting Classifications	CA1494763	rs_117287351	7 SubmittersRCV000236962 RCV000327334 RCV000269968 RCV000384324 RCV000757572 RCV001079905 RCV002262849
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 Condition: not provided Cryopyrin associated periodic syndrome Familial amyloid nephropathy with urticaria AND deafness Autoinflammatory syndrome Focal segmental glomerulosclerosis	Criteria Provided Conflicting Classifications	CA1495112	rs_35829419	15 SubmittersRCV000246002 RCV000282807 RCV000340224 RCV000416176 RCV000531876 RCV000394881 RCV002262891 RCV002294151
NM_144687.4(NLRP12):c.910C>T (p.His304Tyr)	SNV Germline	Chr19:53810749	Conflicting classifications of pathogenicity	not specified Familial cold autoinflammatory syndrome 2 Condition: not provided Autoinflammatory syndrome	Criteria Provided Conflicting Classifications	CA9639573	rs_141245482	11 SubmittersRCV000249573 RCV000525814 RCV001706385 RCV002262907
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 SubmittersRCV000288660 RCV000324235 RCV000381161 RCV001518759 RCV001675776 RCV002262943 RCV004543171
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 NLRP3-related disorder Autoinflammatory syndrome	Criteria Provided Conflicting Classifications	CA1495236	rs_147154764	5 SubmittersRCV000286815 RCV000345238 RCV000402598 RCV000892571 RCV001597041 RCV004543173 RCV002262945
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	2 SubmittersRCV000262849 RCV000318127 RCV000352923 RCV002510839
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 SubmittersRCV000298550 RCV000355739 RCV000396941 RCV000484612 RCV001850555
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	Criteria Provided Conflicting Classifications	CA1495015	rs_199696688	5 SubmittersRCV000314760 RCV000349546 RCV000401914 RCV001195578 RCV001569340 RCV001850556
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 SubmittersRCV000342336 RCV004021755
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 SubmittersRCV000389004 RCV003239289
NM_144687.4(NLRP12):c.298C>T (p.Pro100Ser)	SNV Germline	Chr19:53814980	Conflicting classifications of pathogenicity	Familial cold autoinflammatory syndrome 2 Autoinflammatory syndrome Inborn genetic diseases NLRP12-related disorder	Criteria Provided Conflicting Classifications	CA9639769	rs_200813801	5 SubmittersRCV000884290 RCV002263589 RCV002521247 RCV003957696
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	3 SubmittersRCV000275801 RCV002263048
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 SubmittersRCV000645655 RCV001080137 RCV001778921 RCV002263050 RCV003910268
NM_144687.4(NLRP12):c.629C>T (p.Pro210Leu)	SNV Germline	Chr19:53811030	Conflicting classifications of pathogenicity	Familial cold autoinflammatory syndrome 2 NLRP12-related disorder Autoinflammatory syndrome	Criteria Provided Conflicting Classifications	CA9639652	rs_377594629	6 SubmittersRCV001002447 RCV003910271 RCV002263586
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 SubmittersRCV000330513 RCV003221927
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 SubmittersRCV000375750 RCV002510869
NM_144687.4(NLRP12):c.3088C>G (p.Arg1030Gly)	SNV Germline	Chr19:53795869	Conflicting classifications of pathogenicity	Familial cold autoinflammatory syndrome 2 NLRP12-related disorder Condition: not provided Autoinflammatory syndrome	Criteria Provided Conflicting Classifications	CA9638781	rs_201619538	7 SubmittersRCV000967625 RCV003912380 RCV001764298 RCV002263049
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	Familial cold autoinflammatory syndrome 2 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA9638897	rs_566677129	2 SubmittersRCV000347730 RCV003258768
NM_144687.4(NLRP12):c.2575C>T (p.Arg859Trp)	SNV Germline	Chr19:53803962	Conflicting classifications of pathogenicity	Familial cold autoinflammatory syndrome 2 Condition: not provided Autoinflammatory syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA9639038	rs_573629753	6 SubmittersRCV000823537 RCV001548731 RCV002263057 RCV002521245
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 SubmittersRCV000352281 RCV000905524 RCV002263059
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	Familial cold autoinflammatory syndrome 2 Autoinflammatory syndrome Inborn genetic diseases NLRP12-related disorder	Criteria Provided Conflicting Classifications	CA9639861	rs_761545315	5 SubmittersRCV000907030 RCV002263591 RCV002521248 RCV003940320
NM_144687.4(NLRP12):c.2499C>A (p.Asp833Glu)	SNV Germline	Chr19:53804038	Conflicting classifications of pathogenicity	Familial cold autoinflammatory syndrome 2 Autoinflammatory syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA9639054	rs_139956424	4 SubmittersRCV000379617 RCV002263058 RCV002521246
NM_144687.4(NLRP12):c.2309A>C (p.Lys770Thr)	SNV Germline	Chr19:53805385	Conflicting classifications of pathogenicity	Familial cold autoinflammatory syndrome 2 Inborn genetic diseases NLRP12-related disorder	Criteria Provided Conflicting Classifications	CA9639120	rs_138493915	4 SubmittersRCV000893516 RCV004021756 RCV003910270
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 SubmittersRCV002263060 RCV000407799
NM_144687.4(NLRP12):c.2046A>G (p.Ala682=)	SNV Germline	Chr19:53809613	Conflicting classifications of pathogenicity	not specified Familial cold autoinflammatory syndrome 2	Criteria Provided Conflicting Classifications	CA10652755	rs_886054608	3 SubmittersRCV003323516 RCV000348705
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 SubmittersRCV000264278 RCV001200246 RCV002263064 RCV004021757
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 SubmittersRCV000481155 RCV001080546 RCV002263584 RCV003922406
NM_144687.4(NLRP12):c.654G>A (p.Ala218=)	SNV Germline	Chr19:53811005	Conflicting classifications of pathogenicity	Familial cold autoinflammatory syndrome 2 Autoinflammatory syndrome	Criteria Provided Conflicting Classifications	CA9639640	rs_745766441	4 SubmittersRCV000349412 RCV002263585
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_002661.5(PLCG2):c.502A>G (p.Thr168Ala)	SNV Germline	Chr16:81869236	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	CA8193249	rs_753974933	5 SubmittersRCV000497427 RCV001047902 RCV002481583
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 SubmittersRCV000548599 RCV001573290
NM_144687.4(NLRP12):c.2183G>A (p.Arg728Gln)	SNV Germline	Chr19:53807555	Conflicting classifications of pathogenicity	Condition: not provided Familial cold autoinflammatory syndrome 2	Criteria Provided Conflicting Classifications	CA9639199	rs_373285006	5 SubmittersRCV000513470 RCV000807944
NM_001243133.2(NLRP3):c.638A>G (p.His213Arg)	SNV Germline	Chr1:247424087	Conflicting classifications of pathogenicity	Condition: not provided 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 Keratitis fugax hereditaria Chronic infantile neurological, cutaneous and articular syndrome	Criteria Provided Conflicting Classifications	CA1494913	rs_150396172	4 SubmittersRCV000520553 RCV001211981 RCV002481693
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 SubmittersRCV000522253 RCV001135677 RCV002263727
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 SubmittersRCV000546624 RCV001706673 RCV002263805 RCV002268166 RCV003925704
NM_002661.5(PLCG2):c.923C>T (p.Ala308Val)	SNV Germline	Chr16:81891527	Conflicting classifications of pathogenicity	Familial cold autoinflammatory syndrome 3 Familial cold autoinflammatory syndrome 3 Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation Condition: not provided	Criteria Provided Conflicting Classifications	CA8193513	rs_199636472	6 SubmittersRCV000540341 RCV000768283 RCV001336487 RCV001702518
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	Criteria Provided Conflicting Classifications	CA9639530	rs_199881207	9 SubmittersRCV000627081 RCV001311905 RCV002263840
NM_001243133.2(NLRP3):c.1639A>T (p.Ser547Cys)	SNV Germline	Chr1:247425088	Conflicting classifications of pathogenicity	Condition: not provided 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 Hearing loss, autosomal dominant 34, with or without inflammation NLRP3-related disorder Familial amyloid nephropathy with urticaria AND deafness Hearing loss, autosomal dominant 34, with or without inflammation Chronic infantile neurological, cutaneous and articular syndrome Keratitis fugax hereditaria Familial cold autoinflammatory syndrome 1	Criteria Provided Conflicting Classifications	CA1495048	rs_139833874	8 SubmittersRCV000645590 RCV000825794 RCV000768276 RCV001088695 RCV002282291 RCV004544870 RCV003224363
NM_001199138.2(NLRC4):c.478G>A (p.Ala160Thr)	SNV Germline	Chr2:32251386	Conflicting classifications of pathogenicity	Periodic fever-infantile enterocolitis-autoinflammatory syndrome Familial cold autoinflammatory syndrome 4 Autoinflammatory syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA1602138	rs_113631419	6 SubmittersRCV000652416 RCV002263918 RCV001701430
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 SubmittersRCV000645651 RCV002263889
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 SubmittersRCV000645648 RCV002263888
NM_001243133.2(NLRP3):c.2120C>A (p.Pro707Gln)	SNV Germline	Chr1:247425569	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 amyloid nephropathy with urticaria AND deafness Keratitis fugax hereditaria Familial cold autoinflammatory syndrome 1 Inborn genetic diseases Autoinflammatory syndrome	Criteria Provided Conflicting Classifications		rs_200378519	4 SubmittersRCV000707651 RCV000763848 RCV002534477 RCV002263953
NM_144687.4(NLRP12):c.2791G>T (p.Glu931Ter)	SNV Germline	Chr19:53798379	Pathogenic	Familial cold autoinflammatory syndrome 2	Criteria Provided Single Submitter		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		rs_200679354	3 SubmittersRCV000696997 RCV001531304 RCV002263939
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		rs_144936138	3 SubmittersRCV000695321 RCV001726305
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		rs_61755444	2 SubmittersRCV000703259 RCV001311454
NM_144687.4(NLRP12):c.1170C>A (p.Tyr390Ter)	SNV Germline	Chr19:53810489	Pathogenic	Familial cold autoinflammatory syndrome 2	Criteria Provided Single Submitter		rs_146245368	1 SubmittersRCV000704577
NM_144687.4(NLRP12):c.2830C>T (p.Arg944Trp)	SNV Germline	Chr19:53798340	Conflicting classifications of pathogenicity	not specified Familial cold autoinflammatory syndrome 2 Autoinflammatory syndrome Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications		rs_104895570	5 SubmittersRCV000736056 RCV001047694 RCV002263961 RCV003258958 RCV003311884
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	Criteria Provided Conflicting Classifications		rs_189301790	4 SubmittersRCV000757665 RCV000768282 RCV001086276
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		rs_201437704	4 SubmittersRCV000762032 RCV001476446 RCV003918245 RCV004027194
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		rs_755768331	3 SubmittersRCV000762034 RCV001078697 RCV002263963
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 Keratitis fugax hereditaria Familial cold autoinflammatory syndrome 1 Hearing loss, autosomal dominant 34, with or without inflammation Familial amyloid nephropathy with urticaria AND deafness Chronic infantile neurological, cutaneous and articular syndrome Condition: not provided	Criteria Provided Conflicting Classifications		rs_781561828	3 SubmittersRCV000768030 RCV001855717 RCV003224420 RCV001592950
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		rs_759929786	2 SubmittersRCV000768284 RCV000899435
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		rs_754559711	2 SubmittersRCV000788753 RCV001440500
NM_001199138.2(NLRC4):c.2647G>A (p.Ala883Thr)	SNV Germline	Chr2:32235536	Conflicting classifications of pathogenicity	Familial cold autoinflammatory syndrome 4 Periodic fever-infantile enterocolitis-autoinflammatory syndrome Autoinflammatory syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_780229500	3 SubmittersRCV000796870 RCV002263988 RCV002534612
NM_002661.5(PLCG2):c.313G>A (p.Val105Ile)	SNV Germline	Chr16:81854563	Conflicting classifications of pathogenicity	Familial cold autoinflammatory syndrome 3 Familial cold autoinflammatory syndrome 3 Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation Condition: not provided	Criteria Provided Conflicting Classifications		rs_754914807	3 SubmittersRCV000818849 RCV002478913 RCV003413651
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 Familial cold autoinflammatory syndrome 3 Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_554363067	6 SubmittersRCV000805458 RCV000996349 RCV002477850 RCV002537200
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		rs_1032603937	2 SubmittersRCV000816290 RCV003413644
NM_002661.5(PLCG2):c.2580C>T (p.Val860=)	SNV Germline	Chr16:81928623	Conflicting classifications of pathogenicity	Familial cold autoinflammatory syndrome 3 PLCG2-related disorder Condition: not provided	Criteria Provided Conflicting Classifications		rs_776770937	3 SubmittersRCV000820497 RCV003918278 RCV003222145
NM_144687.4(NLRP12):c.2960G>A (p.Cys987Tyr)	SNV Germline	Chr19:53795997	Conflicting classifications of pathogenicity	Familial cold autoinflammatory syndrome 2	Criteria Provided Conflicting Classifications		rs_369502542	2 SubmittersRCV000807340
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		rs_199980950	3 SubmittersRCV000820013 RCV001531911
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	Criteria Provided Conflicting Classifications		rs_200996095	4 SubmittersRCV000802476 RCV001815479
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		rs_758607519	3 SubmittersRCV000798644 RCV002263989
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		rs_367866295	3 SubmittersRCV000812865 RCV002507419 RCV003948001
NM_001243133.2(NLRP3):c.2505C>T (p.Cys835=)	SNV Germline	Chr1:247435982	Conflicting classifications of pathogenicity	Condition: not provided 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		rs_1351993448	3 SubmittersRCV000877160 RCV001100328 RCV001098566 RCV001098567 RCV001504103
NM_001243133.2(NLRP3):c.3048A>C (p.Leu1016Phe)	SNV Germline	Chr1:247448447	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 Cryopyrin associated periodic syndrome Keratitis fugax hereditaria Hearing loss, autosomal dominant 34, with or without inflammation Familial cold autoinflammatory syndrome 1 Chronic infantile neurological, cutaneous and articular syndrome Familial amyloid nephropathy with urticaria AND deafness NLRP3-related disorder	Criteria Provided Conflicting Classifications		rs_143548979	4 SubmittersRCV001280995 RCV001664527 RCV000883290 RCV003224485 RCV004541787
NM_001199138.2(NLRC4):c.433C>T (p.His145Tyr)	SNV Germline	Chr2:32251431	Conflicting classifications of pathogenicity	Familial cold autoinflammatory syndrome 4 Periodic fever-infantile enterocolitis-autoinflammatory syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_145273174	2 SubmittersRCV000879716 RCV002539287
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	Criteria Provided Conflicting Classifications		rs_151013036	2 SubmittersRCV000887894 RCV004028371
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		rs_368897676	2 SubmittersRCV000892203 RCV002264052
NM_144687.4(NLRP12):c.2258G>A (p.Arg753His)	SNV Germline	Chr19:53805436	Conflicting classifications of pathogenicity	Familial cold autoinflammatory syndrome 2 Autoinflammatory syndrome	Criteria Provided Conflicting Classifications		rs_148745997	3 SubmittersRCV000892927 RCV002264055
NM_144687.4(NLRP12):c.1182C>G (p.Asn394Lys)	SNV Germline	Chr19:53810477	Conflicting classifications of pathogenicity	Familial cold autoinflammatory syndrome 2 Autoinflammatory syndrome	Criteria Provided Conflicting Classifications		rs_201241894	3 SubmittersRCV001434504 RCV002264050
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		rs_145989421	2 SubmittersRCV001483761 RCV003243368
NM_144687.4(NLRP12):c.1820A>C (p.Gln607Pro)	SNV Germline	Chr19:53809839	Conflicting classifications of pathogenicity	Familial cold autoinflammatory syndrome 2 Autoinflammatory syndrome Inborn genetic diseases NLRP12-related disorder	Criteria Provided Conflicting Classifications		rs_370229918	4 SubmittersRCV000905110 RCV002264076 RCV004028555 RCV003910814
NM_001199138.2(NLRC4):c.2631G>A (p.Val877=)	SNV Germline	Chr2:32235552	Conflicting classifications of pathogenicity	Autoinflammatory syndrome Periodic fever-infantile enterocolitis-autoinflammatory syndrome Familial cold autoinflammatory syndrome 4 NLRC4-related disorder	Criteria Provided Conflicting Classifications		rs_544474213	3 SubmittersRCV002264097 RCV002066014 RCV003895625
NM_001199138.2(NLRC4):c.2629G>A (p.Val877Met)	SNV Germline	Chr2:32235554	Conflicting classifications of pathogenicity	Familial cold autoinflammatory syndrome 4 Periodic fever-infantile enterocolitis-autoinflammatory syndrome Condition: not provided Autoinflammatory syndrome	Criteria Provided Conflicting Classifications		rs_147021864	3 SubmittersRCV000918927 RCV001091366 RCV002264092
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 Condition: not provided	Criteria Provided Conflicting Classifications		rs_765641913	2 SubmittersRCV000923633 RCV003132123
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		rs_748510736	2 SubmittersRCV000934720 RCV002264103
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		rs_372372169	2 SubmittersRCV001406510 RCV002264110
NM_144687.4(NLRP12):c.2222A>G (p.Asn741Ser)	SNV Germline	Chr19:53807516	Conflicting classifications of pathogenicity	Familial cold autoinflammatory syndrome 2 Autoinflammatory syndrome	Criteria Provided Conflicting Classifications		rs_548804330	2 SubmittersRCV000932105 RCV002264101
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		rs_528087095	2 SubmittersRCV001459171 RCV002264100
NM_001199138.2(NLRC4):c.1569C>T (p.Ile523=)	SNV Germline	Chr2:32250295	Conflicting classifications of pathogenicity	Periodic fever-infantile enterocolitis-autoinflammatory syndrome Familial cold autoinflammatory syndrome 4 Autoinflammatory syndrome Condition: not provided	Criteria Provided Conflicting Classifications		rs_758432190	3 SubmittersRCV001482908 RCV002264125 RCV003883519
NM_001199138.2(NLRC4):c.945G>A (p.Lys315=)	SNV Germline	Chr2:32250919	Conflicting classifications of pathogenicity	Periodic fever-infantile enterocolitis-autoinflammatory syndrome Familial cold autoinflammatory syndrome 4 Autoinflammatory syndrome	Criteria Provided Conflicting Classifications		rs_746822837	2 SubmittersRCV001484322 RCV002264127
NM_001199138.2(NLRC4):c.549C>T (p.Ala183=)	SNV Germline	Chr2:32251315	Conflicting classifications of pathogenicity	Autoinflammatory syndrome Periodic fever-infantile enterocolitis-autoinflammatory syndrome Familial cold autoinflammatory syndrome 4	Criteria Provided Conflicting Classifications		rs_1573494931	2 SubmittersRCV002264134 RCV002549592
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		rs_1573495011	2 SubmittersRCV000997114 RCV001858853
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		rs_200149635	2 SubmittersRCV000996351 RCV001514318
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		rs_769227978	2 SubmittersRCV000997003 RCV002067621
NM_002661.5(PLCG2):c.3343C>T (p.Pro1115Ser)	SNV Germline	Chr16:81939921	Conflicting classifications of pathogenicity	Familial cold autoinflammatory syndrome 3 Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation Familial cold autoinflammatory syndrome 3 Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_372606303	3 SubmittersRCV001065204 RCV002489690 RCV004030576
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		rs_764354581	2 SubmittersRCV001091263 RCV001134053
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		rs_141436635	2 SubmittersRCV001091268 RCV003495231
NM_001243133.2(NLRP3):c.476G>T (p.Ser159Ile)	SNV Germline	Chr1:247423925	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 NLRP3-related disorder	Criteria Provided Conflicting Classifications		rs_374170024	3 SubmittersRCV001101931 RCV001101930 RCV001101932 RCV002556047 RCV004536155
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 amyloid nephropathy with urticaria AND deafness Familial cold autoinflammatory syndrome 1 Cryopyrin associated periodic syndrome	Criteria Provided Conflicting Classifications		rs_895366086	2 SubmittersRCV001098453 RCV001098455 RCV001098454 RCV002069660
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		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		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		rs_202169378	4 SubmittersRCV001135552 RCV001200245 RCV002558292
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		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		rs_773831845	2 SubmittersRCV001131322
NM_001243133.2(NLRP3):c.2686T>C (p.Ser896Pro)	SNV Germline	Chr1:247443994	Conflicting classifications of pathogenicity	Cryopyrin associated periodic syndrome Condition: not provided Chronic infantile neurological, cutaneous and articular syndrome Familial cold autoinflammatory syndrome 1 Keratitis fugax hereditaria Familial amyloid nephropathy with urticaria AND deafness Hearing loss, autosomal dominant 34, with or without inflammation	Criteria Provided Conflicting Classifications		rs_151205016	4 SubmittersRCV001216824 RCV001587236 RCV002491671
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		rs_200374202	3 SubmittersRCV001223843 RCV002264234 RCV003963132
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		rs_748314396	3 SubmittersRCV001222826 RCV002264232 RCV004032454
NM_001243133.2(NLRP3):c.1090C>A (p.Arg364=)	SNV Germline	Chr1:247424539	Conflicting classifications of pathogenicity	Cryopyrin associated periodic syndrome Keratitis fugax hereditaria 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	Criteria Provided Conflicting Classifications		rs_994458759	2 SubmittersRCV001226283 RCV002484230
NM_002661.5(PLCG2):c.2122G>C (p.Ala708Pro)	SNV Germline	Chr16:81919551	Pathogenic	Familial cold autoinflammatory syndrome 3	Criteria Provided Single Submitter		rs_1381167403	1 SubmittersRCV001227511
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		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		rs_773040139	2 SubmittersRCV001300282 RCV003222295
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		rs_773778524	2 SubmittersRCV001305030 RCV002504463
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		rs_761797236	2 SubmittersRCV001311460 RCV001871776
NM_001199138.2(NLRC4):c.26G>A (p.Arg9Gln)	SNV Germline	Chr2:32252655	Conflicting classifications of pathogenicity	Periodic fever-infantile enterocolitis-autoinflammatory syndrome Familial cold autoinflammatory syndrome 4 Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_374574191	3 SubmittersRCV001320595 RCV004035010
NM_002661.5(PLCG2):c.2503C>A (p.Leu835Ile)	SNV Germline	Chr16:81927167	Conflicting classifications of pathogenicity	Familial cold autoinflammatory syndrome 3 Familial cold autoinflammatory syndrome 3 Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation Condition: not provided	Criteria Provided Conflicting Classifications		rs_186829827	3 SubmittersRCV001322211 RCV002493683 RCV002511078
NM_002661.5(PLCG2):c.2739+19G>A	SNV Germline	Chr16:81931673	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		rs_776050949	2 SubmittersRCV001317892 RCV002493662
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		rs_564767670	2 SubmittersRCV001335968 RCV002070208
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		rs_1386409873	3 SubmittersRCV001348316 RCV001553069 RCV002264275
NM_001243133.2(NLRP3):c.1371G>T (p.Glu457Asp)	SNV Germline	Chr1:247424820	Conflicting classifications of pathogenicity	Cryopyrin associated periodic syndrome 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	Criteria Provided Conflicting Classifications		rs_191754224	2 SubmittersRCV001367241 RCV002476676
NM_001199138.2(NLRC4):c.1476G>T (p.Arg492=)	SNV Germline	Chr2:32250388	Conflicting classifications of pathogenicity	Familial cold autoinflammatory syndrome 4 Periodic fever-infantile enterocolitis-autoinflammatory syndrome Autoinflammatory syndrome	Criteria Provided Conflicting Classifications		rs_952121500	2 SubmittersRCV001432383 RCV002264315
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		rs_140557163	2 SubmittersRCV001427813 RCV004038249
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		rs_117094017	3 SubmittersRCV001444468 RCV002264321 RCV003334053
NM_001199138.2(NLRC4):c.105C>T (p.Arg35=)	SNV Germline	Chr2:32252576	Conflicting classifications of pathogenicity	Periodic fever-infantile enterocolitis-autoinflammatory syndrome Familial cold autoinflammatory syndrome 4 Autoinflammatory syndrome	Criteria Provided Conflicting Classifications		rs_751915363	2 SubmittersRCV001436076 RCV002264320
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		rs_372502550	2 SubmittersRCV001425620 RCV002555515
NM_001199138.2(NLRC4):c.2957A>G (p.Lys986Arg)	SNV Germline	Chr2:32224591	Conflicting classifications of pathogenicity	Familial cold autoinflammatory syndrome 4 Periodic fever-infantile enterocolitis-autoinflammatory syndrome Autoinflammatory syndrome	Criteria Provided Conflicting Classifications		rs_552117780	2 SubmittersRCV001472041 RCV002264339
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		rs_1464438302	2 SubmittersRCV001459754 RCV002264335
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		rs_2148942481	2 SubmittersRCV001455360 RCV002264333
NM_001199138.2(NLRC4):c.298G>A (p.Asp100Asn)	SNV Germline	Chr2:32251566	Conflicting classifications of pathogenicity	Periodic fever-infantile enterocolitis-autoinflammatory syndrome Familial cold autoinflammatory syndrome 4 Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_149157799	2 SubmittersRCV001457772 RCV004038563
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		rs_373954247	4 SubmittersRCV001454648 RCV002264331 RCV003394060
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		rs_747968386	2 SubmittersRCV001489870 RCV002264353
NM_002661.5(PLCG2):c.3493G>A (p.Val1165Ile)	SNV Germline	Chr16:81946186	Conflicting classifications of pathogenicity	Condition: not provided Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation Familial cold autoinflammatory syndrome 3 Familial cold autoinflammatory syndrome 3	Criteria Provided Conflicting Classifications		rs_372557475	4 SubmittersRCV001508785 RCV002506590 RCV002567997
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		rs_767593863	2 SubmittersRCV001534015 RCV002568222
NM_001243133.2(NLRP3):c.2575T>C (p.Tyr859His)	SNV Germline	Chr1:247436052	Pathogenic/Likely pathogenic	Condition: not provided Keratitis fugax hereditaria Familial cold autoinflammatory syndrome 1 Hearing loss, autosomal dominant 34, with or without inflammation Chronic infantile neurological, cutaneous and articular syndrome Familial amyloid nephropathy with urticaria AND deafness Cryopyrin associated periodic syndrome NLRP3-related disorder	Criteria Provided Multiple Submitters No Conflicts		rs_2103174031	5 SubmittersRCV001547811 RCV002495875 RCV003594137 RCV004541995
NM_144687.4(NLRP12):c.2072+1G>C	SNV Unknown	Chr19:53809586	Likely pathogenic	Familial cold autoinflammatory syndrome 2	Criteria Provided Single Submitter		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		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		rs_763166039	3 SubmittersRCV001773003 RCV002488600
NM_144687.4(NLRP12):c.2879T>A (p.Leu960Ter)	SNV Germline	Chr19:53798291	Likely pathogenic	Familial cold autoinflammatory syndrome 2	Criteria Provided Single Submitter		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		rs_752647511	2 SubmittersRCV001812535 RCV002542348
NM_002661.5(PLCG2):c.2095G>A (p.Gly699Ser)	SNV Germline	Chr16:81919524	Likely pathogenic	Familial cold autoinflammatory syndrome 3	Criteria Provided Single Submitter		rs_753618006	1 SubmittersRCV001824263
NM_001199138.2(NLRC4):c.704T>C (p.Met235Thr)	SNV Germline	Chr2:32251160	Conflicting classifications of pathogenicity	Periodic fever-infantile enterocolitis-autoinflammatory syndrome Familial cold autoinflammatory syndrome 4 Autoinflammatory syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_770505969	3 SubmittersRCV001928506 RCV002264427 RCV003375437
NM_001243133.2(NLRP3):c.2273T>C (p.Val758Ala)	SNV Germline	Chr1:247429707	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 cold autoinflammatory syndrome 1 Familial amyloid nephropathy with urticaria AND deafness	Criteria Provided Conflicting Classifications		rs_770791406	3 SubmittersRCV001985457 RCV002260715 RCV002484754
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		rs_2091941014	2 SubmittersRCV001905501 RCV002264406
NM_144687.4(NLRP12):c.306C>T (p.Gly102=)	SNV Germline	Chr19:53814972	Conflicting classifications of pathogenicity	Familial cold autoinflammatory syndrome 2 Condition: not provided	Criteria Provided Conflicting Classifications		rs_745452377	2 SubmittersRCV001896224 RCV002264419
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		rs_143515989	3 SubmittersRCV001913172 RCV002264423 RCV003426242
NM_144687.4(NLRP12):c.1908C>A (p.Ile636=)	SNV Germline	Chr19:53809751	Conflicting classifications of pathogenicity	Familial cold autoinflammatory syndrome 2 Autoinflammatory syndrome	Criteria Provided Conflicting Classifications		rs_1454297839	2 SubmittersRCV002202220 RCV002264456
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		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		rs_374768937	2 SubmittersRCV002100336 RCV003015243
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		rs_764841108	2 SubmittersRCV002135591 RCV002264468
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		rs_148263031	3 SubmittersRCV002116557 RCV002264466
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		rs_200736514	2 SubmittersRCV002106384 RCV003053434
NM_001199138.2(NLRC4):c.1550G>C (p.Cys517Ser)	SNV Germline	Chr2:32250314	Conflicting classifications of pathogenicity	Autoinflammatory syndrome Inborn genetic diseases Familial cold autoinflammatory syndrome 4 Periodic fever-infantile enterocolitis-autoinflammatory syndrome Condition: not provided	Criteria Provided Conflicting Classifications		rs_779390608	4 SubmittersRCV002262085 RCV003095941 RCV003774822 RCV003222408
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		rs_1474523535	2 SubmittersRCV002262106 RCV003774824
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		rs_1435117815	2 SubmittersRCV002262110 RCV003095943
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		rs_143499267	2 SubmittersRCV002262135 RCV003095945
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		rs_1430424840	2 SubmittersRCV002262137 RCV003095947
NM_144687.4(NLRP12):c.2887G>A (p.Glu963Lys)	SNV Germline	Chr19:53798283	Conflicting classifications of pathogenicity	Autoinflammatory syndrome Familial cold autoinflammatory syndrome 2	Criteria Provided Conflicting Classifications		rs_139165669	2 SubmittersRCV002262138 RCV003095948
NM_002661.5(PLCG2):c.3420T>A (p.Asp1140Glu)	SNV Germline	Chr16:81939998	Likely pathogenic	Familial cold autoinflammatory syndrome 3	Criteria Provided Single Submitter			1 SubmittersRCV002305070
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			2 SubmittersRCV002642736 RCV003357969
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			2 SubmittersRCV002920618 RCV003777948

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
Hearing loss, autosomal dominant 34, with or without inflammation
Keratitis fugax hereditaria
Chronic infantile neurological, cutaneous and articular syndrome
Familial cold autoinflammatory syndrome 1
Familial amyloid nephropathy with urticaria AND deafness

Criteria Provided
Multiple Submitters
No Conflicts

CA280958

rs_121908146

10 SubmittersRCV000004618 RCV000214900 RCV000701554 RCV002262553 RCV002476928

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
Chronic infantile neurological, cutaneous and articular syndrome
Familial cold autoinflammatory syndrome 1
Familial amyloid nephropathy with urticaria AND deafness
Hearing loss, autosomal dominant 34, with or without inflammation
Cryopyrin associated periodic syndrome
Autoinflammatory syndrome
Kidney disorder
Hearing loss, autosomal dominant 34, with or without inflammation
Keratitis fugax hereditaria
Chronic infantile neurological, cutaneous and articular syndrome
Familial cold autoinflammatory syndrome 1
Familial amyloid nephropathy with urticaria AND deafness
NLRP3-related disorder

Criteria Provided
Conflicting Classifications

CA280962

rs_121908147

17 SubmittersRCV000004619 RCV000224634 RCV000248492 RCV000312024 RCV000509555 RCV000791008 RCV001082121 RCV002262554 RCV002293975 RCV003224088 RCV004528070

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 SubmittersRCV000004620 RCV002262555

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 SubmittersRCV000004621 RCV000084171 RCV001091235 RCV001225906

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
Cryopyrin associated periodic syndrome
Autoinflammatory syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA116784

rs_121908150

9 SubmittersRCV000004622 RCV000004623 RCV000221297 RCV001067187 RCV002262556

NM_001243133.2(NLRP3):c.1705G>C (p.Gly569Arg)

SNV
Germline

Chr1:247425154

Pathogenic

Familial amyloid nephropathy with urticaria AND deafness
Familial cold autoinflammatory syndrome 1

No Assertion Criteria Provided

CA116788

rs_121908151

2 SubmittersRCV000004624 RCV000084204

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 SubmittersRCV000004625 RCV000084210

NM_001243133.2(NLRP3):c.907G>A (p.Asp303Asn)

SNV
Germline

Chr1:247424356

Pathogenic

Chronic infantile neurological, cutaneous and articular syndrome
Familial amyloid nephropathy with urticaria AND deafness
Familial cold autoinflammatory syndrome 1
Cryopyrin associated periodic syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA116796

rs_121908153

8 SubmittersRCV000004626 RCV000004627 RCV000084240 RCV000527671 RCV000214348

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 SubmittersRCV000004628 RCV000084248

NM_001243133.2(NLRP3):c.1058T>C (p.Leu353Pro)

SNV
Germline

Chr1:247424507

Pathogenic

Familial cold autoinflammatory syndrome 1
Condition: not provided
not specified
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
Multiple Submitters
No Conflicts

CA280970

rs_28937896

6 SubmittersRCV000004629 RCV000219571 RCV001000586 RCV000795773 RCV000762894

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
NLRP12-related disorder
Autoinflammatory syndrome

Criteria Provided
Conflicting Classifications

CA224940

rs_104895570

10 SubmittersRCV000084148 RCV000283785 RCV000560378 RCV003915109 RCV002262684

NM_001243133.2(NLRP3):c.1043C>T (p.Thr348Met)

SNV
Germline

Chr1:247424492

Pathogenic

Familial cold autoinflammatory syndrome 1
Condition: not provided
Familial amyloid nephropathy with urticaria AND deafness
Cryopyrin associated periodic syndrome
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 SubmittersRCV000084167 RCV000214584 RCV000449533 RCV000540218 RCV002262687 RCV002464107

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 SubmittersRCV000084168 RCV002262688 RCV003593907

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 SubmittersRCV000084170 RCV001854466 RCV003152680

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 SubmittersRCV000084175 RCV000221845 RCV001854467

NM_001243133.2(NLRP3):c.1306A>G (p.Thr436Ala)

SNV
Germline

Chr1:247424755

Conflicting classifications of pathogenicity

Familial cold autoinflammatory syndrome 1
Cryopyrin associated periodic syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA281165

rs_180177465

3 SubmittersRCV000084180 RCV000707213 RCV000433450

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 SubmittersRCV000084183 RCV001056510 RCV003114249

NM_001243133.2(NLRP3):c.1315G>A (p.Ala439Thr)

SNV
Germline

Chr1:247424764

Pathogenic

Familial cold autoinflammatory syndrome 1
Cryopyrin associated periodic syndrome

Criteria Provided
Single Submitter

CA281181

rs_180177430

2 SubmittersRCV000084184 RCV001382397

NM_001243133.2(NLRP3):c.1383C>T (p.Cys461=)

SNV
Germline

Chr1:247424832

Conflicting classifications of pathogenicity

Familial cold autoinflammatory syndrome 1
Condition: not provided
not specified
Cryopyrin associated periodic syndrome
Autoinflammatory syndrome

Criteria Provided
Conflicting Classifications

CA281201

rs_104895398

6 SubmittersRCV000084189 RCV001682793 RCV001701747 RCV001436812 RCV002262691

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
Autoinflammatory syndrome

Criteria Provided
Conflicting Classifications

CA281217

rs_145268073

9 SubmittersRCV000084193 RCV000223458 RCV001085335 RCV001375155 RCV002262693

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 SubmittersRCV000084195 RCV001382398

NM_001243133.2(NLRP3):c.1573G>A (p.Glu525Lys)

SNV
Germline

Chr1:247425022

Likely pathogenic

Familial cold autoinflammatory syndrome 1
Cryopyrin associated periodic syndrome

Criteria Provided
Single Submitter

CA281234

rs_180177458

2 SubmittersRCV000084198 RCV000803838

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

Criteria Provided
Multiple Submitters
No Conflicts

CA281254

rs_104895389

3 SubmittersRCV000084203 RCV001224375

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 SubmittersRCV000084205 RCV003593908

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 SubmittersRCV000084206 RCV003236775

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 SubmittersRCV000084219 RCV002285010

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 SubmittersRCV000084220 RCV002513892

NM_001243133.2(NLRP3):c.2576A>G (p.Tyr859Cys)

SNV
Germline

Chr1:247436053

Pathogenic/Likely pathogenic

Familial cold autoinflammatory syndrome 1
Condition: not provided
Chronic infantile neurological, cutaneous and articular syndrome
Keratitis fugax hereditaria
Familial amyloid nephropathy with urticaria AND deafness
Hearing loss, autosomal dominant 34, with or without inflammation
Familial cold autoinflammatory syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA281318

rs_180177452

3 SubmittersRCV000084221 RCV000216746 RCV003389316

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 SubmittersRCV000084225 RCV001857409

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 SubmittersRCV000084226 RCV000308464 RCV000365471 RCV001465871 RCV003229808

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 SubmittersRCV000084227 RCV000217712 RCV001078842 RCV002262695 RCV004529880

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 SubmittersRCV000084230 RCV000788842 RCV002262696 RCV001028056

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 SubmittersRCV000084233 RCV001582575

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 SubmittersRCV000084234 RCV003415857

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 SubmittersRCV000084239 RCV001857410 RCV002227059

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 SubmittersRCV000084242 RCV002514492

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 SubmittersRCV000084243 RCV000217940 RCV001854469

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 SubmittersRCV000084244 RCV000221611 RCV001854470 RCV002262697

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 SubmittersRCV000084247 RCV001043402

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
Familial amyloid nephropathy with urticaria AND deafness

Criteria Provided
Multiple Submitters
No Conflicts

CA281423

rs_180177470

4 SubmittersRCV000084250 RCV001312141 RCV003593910 RCV002464108

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
not specified
Chronic infantile neurological, cutaneous and articular syndrome
Autoinflammatory syndrome
Inborn genetic diseases
Familial amyloid nephropathy with urticaria AND deafness

Criteria Provided
Conflicting Classifications

CA281431

rs_180177501

10 SubmittersRCV000084252 RCV000521236 RCV000525710 RCV000825406 RCV001100031 RCV002262699 RCV002513894 RCV001102016

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
Cryopyrin associated periodic syndrome
Chronic infantile neurological, cutaneous and articular syndrome
Autoinflammatory syndrome
Kidney disorder

Criteria Provided
Conflicting Classifications

CA281435

rs_180177462

6 SubmittersRCV000084253 RCV000213159 RCV001195579 RCV000344447 RCV001226114 RCV000378566 RCV002262700 RCV002294026

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 SubmittersRCV000084255 RCV001056350

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

Criteria Provided
Conflicting Classifications

CA230096

rs_199475953

6 SubmittersRCV000089345 RCV000652408 RCV003330434

NM_001243133.2(NLRP3):c.1584C>T (p.Ala528=)

SNV
Germline

Chr1:247425033

Conflicting classifications of pathogenicity

not specified
Familial amyloid nephropathy with urticaria AND deafness
Familial cold autoinflammatory syndrome 1
Chronic infantile neurological, cutaneous and articular syndrome
Autoinflammatory syndrome
Cryopyrin associated periodic syndrome

Criteria Provided
Conflicting Classifications

CA292567

rs_201644343

4 SubmittersRCV000127222 RCV000268161 RCV000325594 RCV000364278 RCV002262736 RCV002515913

NM_001243133.2(NLRP3):c.2118C>T (p.Leu706=)

SNV
Germline

Chr1:247425567

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

CA292573

rs_149493236

5 SubmittersRCV000127224 RCV000396527 RCV000307210 RCV000361891 RCV001312143 RCV000877580 RCV002262737

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
Periodic fever-infantile enterocolitis-autoinflammatory syndrome
Familial cold autoinflammatory syndrome 4

Criteria Provided
Multiple Submitters
No Conflicts

CA170101

rs_587781260

4 SubmittersRCV000132764 RCV000144517 RCV000434682 RCV001857479

NM_001199138.2(NLRC4):c.1009A>T (p.Thr337Ser)

SNV
Germline

Chr2:32250855

Pathogenic

Periodic fever-infantile enterocolitis-autoinflammatory syndrome
Periodic fever-infantile enterocolitis-autoinflammatory syndrome
Familial cold autoinflammatory syndrome 4

Criteria Provided
Single Submitter

CA170899

rs_587777840

2 SubmittersRCV000144518 RCV001382868

NM_001199138.2(NLRC4):c.1328A>C (p.His443Pro)

SNV
Germline

Chr2:32250536

Pathogenic

Familial cold autoinflammatory syndrome 4
Periodic fever-infantile enterocolitis-autoinflammatory syndrome
Familial cold autoinflammatory syndrome 4

Criteria Provided
Single Submitter

CA346058

rs_606231460

2 SubmittersRCV000148929 RCV001227277

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 SubmittersRCV000202334 RCV002054245

NM_001243133.2(NLRP3):c.2176A>G (p.Ser726Gly)

SNV
Germline

Chr1:247429610

Conflicting classifications of pathogenicity

not specified
Familial amyloid nephropathy with urticaria AND deafness
Chronic infantile neurological, cutaneous and articular syndrome
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 SubmittersRCV000216458 RCV000303538 RCV000263610 RCV000552226 RCV000626053 RCV001172030 RCV002262814 RCV004532811

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
Chronic infantile neurological, cutaneous and articular syndrome
Familial cold autoinflammatory syndrome 1
Cryopyrin associated periodic syndrome

Criteria Provided
Conflicting Classifications

CA1495237

rs_141389711

3 SubmittersRCV000218819 RCV001098562 RCV001098560 RCV001098561 RCV001087354

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 SubmittersRCV000220153 RCV000298441 RCV000337870 RCV000394837 RCV000813164

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

7 SubmittersRCV000220345 RCV000277197 RCV000313549 RCV000353278 RCV001082685 RCV001705232 RCV002262815 RCV004532812

NM_001243133.2(NLRP3):c.208G>A (p.Val70Met)

SNV
Germline

Chr1:247419008

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
Condition: not provided
Cryopyrin associated periodic syndrome
Autoinflammatory syndrome

Criteria Provided
Conflicting Classifications

CA1494763

rs_117287351

7 SubmittersRCV000236962 RCV000327334 RCV000269968 RCV000384324 RCV000757572 RCV001079905 RCV002262849

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
Condition: not provided
Cryopyrin associated periodic syndrome
Familial amyloid nephropathy with urticaria AND deafness
Autoinflammatory syndrome
Focal segmental glomerulosclerosis

Criteria Provided
Conflicting Classifications

CA1495112

rs_35829419

15 SubmittersRCV000246002 RCV000282807 RCV000340224 RCV000416176 RCV000531876 RCV000394881 RCV002262891 RCV002294151

NM_144687.4(NLRP12):c.910C>T (p.His304Tyr)

SNV
Germline

Chr19:53810749

Conflicting classifications of pathogenicity

not specified
Familial cold autoinflammatory syndrome 2
Condition: not provided
Autoinflammatory syndrome

Criteria Provided
Conflicting Classifications

CA9639573

rs_141245482

11 SubmittersRCV000249573 RCV000525814 RCV001706385 RCV002262907

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 SubmittersRCV000288660 RCV000324235 RCV000381161 RCV001518759 RCV001675776 RCV002262943 RCV004543171

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
NLRP3-related disorder
Autoinflammatory syndrome

Criteria Provided
Conflicting Classifications

CA1495236

rs_147154764

5 SubmittersRCV000286815 RCV000345238 RCV000402598 RCV000892571 RCV001597041 RCV004543173 RCV002262945

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

2 SubmittersRCV000262849 RCV000318127 RCV000352923 RCV002510839

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 SubmittersRCV000298550 RCV000355739 RCV000396941 RCV000484612 RCV001850555

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

Criteria Provided
Conflicting Classifications

CA1495015

rs_199696688

5 SubmittersRCV000314760 RCV000349546 RCV000401914 RCV001195578 RCV001569340 RCV001850556

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 SubmittersRCV000342336 RCV004021755

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 SubmittersRCV000389004 RCV003239289

NM_144687.4(NLRP12):c.298C>T (p.Pro100Ser)

SNV
Germline

Chr19:53814980

Conflicting classifications of pathogenicity

Familial cold autoinflammatory syndrome 2
Autoinflammatory syndrome
Inborn genetic diseases
NLRP12-related disorder

Criteria Provided
Conflicting Classifications

CA9639769

rs_200813801

5 SubmittersRCV000884290 RCV002263589 RCV002521247 RCV003957696

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

3 SubmittersRCV000275801 RCV002263048

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 SubmittersRCV000645655 RCV001080137 RCV001778921 RCV002263050 RCV003910268

NM_144687.4(NLRP12):c.629C>T (p.Pro210Leu)

SNV
Germline

Chr19:53811030

Conflicting classifications of pathogenicity

Familial cold autoinflammatory syndrome 2
NLRP12-related disorder
Autoinflammatory syndrome

Criteria Provided
Conflicting Classifications

CA9639652

rs_377594629

6 SubmittersRCV001002447 RCV003910271 RCV002263586

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 SubmittersRCV000330513 RCV003221927

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 SubmittersRCV000375750 RCV002510869

NM_144687.4(NLRP12):c.3088C>G (p.Arg1030Gly)

SNV
Germline

Chr19:53795869

Conflicting classifications of pathogenicity

Familial cold autoinflammatory syndrome 2
NLRP12-related disorder
Condition: not provided
Autoinflammatory syndrome

Criteria Provided
Conflicting Classifications

CA9638781

rs_201619538

7 SubmittersRCV000967625 RCV003912380 RCV001764298 RCV002263049

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

Familial cold autoinflammatory syndrome 2
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA9638897

rs_566677129

2 SubmittersRCV000347730 RCV003258768

NM_144687.4(NLRP12):c.2575C>T (p.Arg859Trp)

SNV
Germline

Chr19:53803962

Conflicting classifications of pathogenicity

Familial cold autoinflammatory syndrome 2
Condition: not provided
Autoinflammatory syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA9639038

rs_573629753

6 SubmittersRCV000823537 RCV001548731 RCV002263057 RCV002521245

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 SubmittersRCV000352281 RCV000905524 RCV002263059

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

Familial cold autoinflammatory syndrome 2
Autoinflammatory syndrome
Inborn genetic diseases
NLRP12-related disorder

Criteria Provided
Conflicting Classifications

CA9639861

rs_761545315

5 SubmittersRCV000907030 RCV002263591 RCV002521248 RCV003940320

NM_144687.4(NLRP12):c.2499C>A (p.Asp833Glu)

SNV
Germline

Chr19:53804038

Conflicting classifications of pathogenicity

Familial cold autoinflammatory syndrome 2
Autoinflammatory syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA9639054

rs_139956424

4 SubmittersRCV000379617 RCV002263058 RCV002521246

NM_144687.4(NLRP12):c.2309A>C (p.Lys770Thr)

SNV
Germline

Chr19:53805385

Conflicting classifications of pathogenicity

Familial cold autoinflammatory syndrome 2
Inborn genetic diseases
NLRP12-related disorder

Criteria Provided
Conflicting Classifications

CA9639120

rs_138493915

4 SubmittersRCV000893516 RCV004021756 RCV003910270

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 SubmittersRCV002263060 RCV000407799

NM_144687.4(NLRP12):c.2046A>G (p.Ala682=)

SNV
Germline

Chr19:53809613

Conflicting classifications of pathogenicity

not specified
Familial cold autoinflammatory syndrome 2

Criteria Provided
Conflicting Classifications

CA10652755

rs_886054608

3 SubmittersRCV003323516 RCV000348705

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 SubmittersRCV000264278 RCV001200246 RCV002263064 RCV004021757

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 SubmittersRCV000481155 RCV001080546 RCV002263584 RCV003922406

NM_144687.4(NLRP12):c.654G>A (p.Ala218=)

SNV
Germline

Chr19:53811005

Conflicting classifications of pathogenicity

Familial cold autoinflammatory syndrome 2
Autoinflammatory syndrome

Criteria Provided
Conflicting Classifications

CA9639640

rs_745766441

4 SubmittersRCV000349412 RCV002263585

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_002661.5(PLCG2):c.502A>G (p.Thr168Ala)

SNV
Germline

Chr16:81869236

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

CA8193249

rs_753974933

5 SubmittersRCV000497427 RCV001047902 RCV002481583

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 SubmittersRCV000548599 RCV001573290

NM_144687.4(NLRP12):c.2183G>A (p.Arg728Gln)

SNV
Germline

Chr19:53807555

Conflicting classifications of pathogenicity

Condition: not provided
Familial cold autoinflammatory syndrome 2

Criteria Provided
Conflicting Classifications

CA9639199

rs_373285006

5 SubmittersRCV000513470 RCV000807944

NM_001243133.2(NLRP3):c.638A>G (p.His213Arg)

SNV
Germline

Chr1:247424087

Conflicting classifications of pathogenicity

Condition: not provided
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
Keratitis fugax hereditaria
Chronic infantile neurological, cutaneous and articular syndrome

Criteria Provided
Conflicting Classifications

CA1494913

rs_150396172

4 SubmittersRCV000520553 RCV001211981 RCV002481693

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 SubmittersRCV000522253 RCV001135677 RCV002263727

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 SubmittersRCV000546624 RCV001706673 RCV002263805 RCV002268166 RCV003925704

NM_002661.5(PLCG2):c.923C>T (p.Ala308Val)

SNV
Germline

Chr16:81891527

Conflicting classifications of pathogenicity

Familial cold autoinflammatory syndrome 3
Familial cold autoinflammatory syndrome 3
Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation
Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8193513

rs_199636472

6 SubmittersRCV000540341 RCV000768283 RCV001336487 RCV001702518

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

Criteria Provided
Conflicting Classifications

CA9639530

rs_199881207

9 SubmittersRCV000627081 RCV001311905 RCV002263840

NM_001243133.2(NLRP3):c.1639A>T (p.Ser547Cys)

SNV
Germline

Chr1:247425088

Conflicting classifications of pathogenicity

Condition: not provided
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
Hearing loss, autosomal dominant 34, with or without inflammation
NLRP3-related disorder
Familial amyloid nephropathy with urticaria AND deafness
Hearing loss, autosomal dominant 34, with or without inflammation
Chronic infantile neurological, cutaneous and articular syndrome
Keratitis fugax hereditaria
Familial cold autoinflammatory syndrome 1

Criteria Provided
Conflicting Classifications

CA1495048

rs_139833874

8 SubmittersRCV000645590 RCV000825794 RCV000768276 RCV001088695 RCV002282291 RCV004544870 RCV003224363

NM_001199138.2(NLRC4):c.478G>A (p.Ala160Thr)

SNV
Germline

Chr2:32251386

Conflicting classifications of pathogenicity

Periodic fever-infantile enterocolitis-autoinflammatory syndrome
Familial cold autoinflammatory syndrome 4
Autoinflammatory syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1602138

rs_113631419

6 SubmittersRCV000652416 RCV002263918 RCV001701430

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 SubmittersRCV000645651 RCV002263889

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 SubmittersRCV000645648 RCV002263888

NM_001243133.2(NLRP3):c.2120C>A (p.Pro707Gln)

SNV
Germline

Chr1:247425569

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 amyloid nephropathy with urticaria AND deafness
Keratitis fugax hereditaria
Familial cold autoinflammatory syndrome 1
Inborn genetic diseases
Autoinflammatory syndrome

Criteria Provided
Conflicting Classifications

rs_200378519

4 SubmittersRCV000707651 RCV000763848 RCV002534477 RCV002263953

NM_144687.4(NLRP12):c.2791G>T (p.Glu931Ter)

SNV
Germline

Chr19:53798379

Pathogenic

Familial cold autoinflammatory syndrome 2

Criteria Provided
Single Submitter

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

rs_200679354

3 SubmittersRCV000696997 RCV001531304 RCV002263939

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

rs_144936138

3 SubmittersRCV000695321 RCV001726305

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

rs_61755444

2 SubmittersRCV000703259 RCV001311454

NM_144687.4(NLRP12):c.1170C>A (p.Tyr390Ter)

SNV
Germline

Chr19:53810489

Pathogenic

Familial cold autoinflammatory syndrome 2

Criteria Provided
Single Submitter

rs_146245368

1 SubmittersRCV000704577

NM_144687.4(NLRP12):c.2830C>T (p.Arg944Trp)

SNV
Germline

Chr19:53798340

Conflicting classifications of pathogenicity

not specified
Familial cold autoinflammatory syndrome 2
Autoinflammatory syndrome
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_104895570

5 SubmittersRCV000736056 RCV001047694 RCV002263961 RCV003258958 RCV003311884

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

Criteria Provided
Conflicting Classifications

rs_189301790

4 SubmittersRCV000757665 RCV000768282 RCV001086276

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

rs_201437704

4 SubmittersRCV000762032 RCV001476446 RCV003918245 RCV004027194

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

rs_755768331

3 SubmittersRCV000762034 RCV001078697 RCV002263963

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
Keratitis fugax hereditaria
Familial cold autoinflammatory syndrome 1
Hearing loss, autosomal dominant 34, with or without inflammation
Familial amyloid nephropathy with urticaria AND deafness
Chronic infantile neurological, cutaneous and articular syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_781561828

3 SubmittersRCV000768030 RCV001855717 RCV003224420 RCV001592950

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

rs_759929786

2 SubmittersRCV000768284 RCV000899435

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

rs_754559711

2 SubmittersRCV000788753 RCV001440500

NM_001199138.2(NLRC4):c.2647G>A (p.Ala883Thr)

SNV
Germline

Chr2:32235536

Conflicting classifications of pathogenicity

Familial cold autoinflammatory syndrome 4
Periodic fever-infantile enterocolitis-autoinflammatory syndrome
Autoinflammatory syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_780229500

3 SubmittersRCV000796870 RCV002263988 RCV002534612

NM_002661.5(PLCG2):c.313G>A (p.Val105Ile)

SNV
Germline

Chr16:81854563

Conflicting classifications of pathogenicity

Familial cold autoinflammatory syndrome 3
Familial cold autoinflammatory syndrome 3
Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_754914807

3 SubmittersRCV000818849 RCV002478913 RCV003413651

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
Familial cold autoinflammatory syndrome 3
Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_554363067

6 SubmittersRCV000805458 RCV000996349 RCV002477850 RCV002537200

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

rs_1032603937

2 SubmittersRCV000816290 RCV003413644

NM_002661.5(PLCG2):c.2580C>T (p.Val860=)

SNV
Germline

Chr16:81928623

Conflicting classifications of pathogenicity

Familial cold autoinflammatory syndrome 3
PLCG2-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_776770937

3 SubmittersRCV000820497 RCV003918278 RCV003222145

NM_144687.4(NLRP12):c.2960G>A (p.Cys987Tyr)

SNV
Germline

Chr19:53795997

Conflicting classifications of pathogenicity

Familial cold autoinflammatory syndrome 2

Criteria Provided
Conflicting Classifications

rs_369502542

2 SubmittersRCV000807340

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

rs_199980950

3 SubmittersRCV000820013 RCV001531911

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

Criteria Provided
Conflicting Classifications

rs_200996095

4 SubmittersRCV000802476 RCV001815479

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

rs_758607519

3 SubmittersRCV000798644 RCV002263989

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

rs_367866295

3 SubmittersRCV000812865 RCV002507419 RCV003948001

NM_001243133.2(NLRP3):c.2505C>T (p.Cys835=)

SNV
Germline

Chr1:247435982

Conflicting classifications of pathogenicity

Condition: not provided
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

rs_1351993448

3 SubmittersRCV000877160 RCV001100328 RCV001098566 RCV001098567 RCV001504103

NM_001243133.2(NLRP3):c.3048A>C (p.Leu1016Phe)

SNV
Germline

Chr1:247448447

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
Cryopyrin associated periodic syndrome
Keratitis fugax hereditaria
Hearing loss, autosomal dominant 34, with or without inflammation
Familial cold autoinflammatory syndrome 1
Chronic infantile neurological, cutaneous and articular syndrome
Familial amyloid nephropathy with urticaria AND deafness
NLRP3-related disorder

Criteria Provided
Conflicting Classifications

rs_143548979

4 SubmittersRCV001280995 RCV001664527 RCV000883290 RCV003224485 RCV004541787

NM_001199138.2(NLRC4):c.433C>T (p.His145Tyr)

SNV
Germline

Chr2:32251431

Conflicting classifications of pathogenicity

Familial cold autoinflammatory syndrome 4
Periodic fever-infantile enterocolitis-autoinflammatory syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_145273174

2 SubmittersRCV000879716 RCV002539287

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

Criteria Provided
Conflicting Classifications

rs_151013036

2 SubmittersRCV000887894 RCV004028371

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

rs_368897676

2 SubmittersRCV000892203 RCV002264052

NM_144687.4(NLRP12):c.2258G>A (p.Arg753His)

SNV
Germline

Chr19:53805436

Conflicting classifications of pathogenicity

Familial cold autoinflammatory syndrome 2
Autoinflammatory syndrome

Criteria Provided
Conflicting Classifications

rs_148745997

3 SubmittersRCV000892927 RCV002264055

NM_144687.4(NLRP12):c.1182C>G (p.Asn394Lys)

SNV
Germline

Chr19:53810477

Conflicting classifications of pathogenicity

Familial cold autoinflammatory syndrome 2
Autoinflammatory syndrome

Criteria Provided
Conflicting Classifications

rs_201241894

3 SubmittersRCV001434504 RCV002264050

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

rs_145989421

2 SubmittersRCV001483761 RCV003243368

NM_144687.4(NLRP12):c.1820A>C (p.Gln607Pro)

SNV
Germline

Chr19:53809839

Conflicting classifications of pathogenicity

Familial cold autoinflammatory syndrome 2
Autoinflammatory syndrome
Inborn genetic diseases
NLRP12-related disorder

Criteria Provided
Conflicting Classifications

rs_370229918

4 SubmittersRCV000905110 RCV002264076 RCV004028555 RCV003910814

NM_001199138.2(NLRC4):c.2631G>A (p.Val877=)

SNV
Germline

Chr2:32235552

Conflicting classifications of pathogenicity

Autoinflammatory syndrome
Periodic fever-infantile enterocolitis-autoinflammatory syndrome
Familial cold autoinflammatory syndrome 4
NLRC4-related disorder

Criteria Provided
Conflicting Classifications

rs_544474213

3 SubmittersRCV002264097 RCV002066014 RCV003895625

NM_001199138.2(NLRC4):c.2629G>A (p.Val877Met)

SNV
Germline

Chr2:32235554

Conflicting classifications of pathogenicity

Familial cold autoinflammatory syndrome 4
Periodic fever-infantile enterocolitis-autoinflammatory syndrome
Condition: not provided
Autoinflammatory syndrome

Criteria Provided
Conflicting Classifications

rs_147021864

3 SubmittersRCV000918927 RCV001091366 RCV002264092

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
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_765641913

2 SubmittersRCV000923633 RCV003132123

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

rs_748510736

2 SubmittersRCV000934720 RCV002264103

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

rs_372372169

2 SubmittersRCV001406510 RCV002264110

NM_144687.4(NLRP12):c.2222A>G (p.Asn741Ser)

SNV
Germline

Chr19:53807516

Conflicting classifications of pathogenicity

Familial cold autoinflammatory syndrome 2
Autoinflammatory syndrome

Criteria Provided
Conflicting Classifications

rs_548804330

2 SubmittersRCV000932105 RCV002264101

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

rs_528087095

2 SubmittersRCV001459171 RCV002264100

NM_001199138.2(NLRC4):c.1569C>T (p.Ile523=)

SNV
Germline

Chr2:32250295

Conflicting classifications of pathogenicity

Periodic fever-infantile enterocolitis-autoinflammatory syndrome
Familial cold autoinflammatory syndrome 4
Autoinflammatory syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_758432190

3 SubmittersRCV001482908 RCV002264125 RCV003883519

NM_001199138.2(NLRC4):c.945G>A (p.Lys315=)

SNV
Germline

Chr2:32250919

Conflicting classifications of pathogenicity

Periodic fever-infantile enterocolitis-autoinflammatory syndrome
Familial cold autoinflammatory syndrome 4
Autoinflammatory syndrome

Criteria Provided
Conflicting Classifications

rs_746822837

2 SubmittersRCV001484322 RCV002264127

NM_001199138.2(NLRC4):c.549C>T (p.Ala183=)

SNV
Germline

Chr2:32251315

Conflicting classifications of pathogenicity

Autoinflammatory syndrome
Periodic fever-infantile enterocolitis-autoinflammatory syndrome
Familial cold autoinflammatory syndrome 4

Criteria Provided
Conflicting Classifications

rs_1573494931

2 SubmittersRCV002264134 RCV002549592

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

rs_1573495011

2 SubmittersRCV000997114 RCV001858853

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

rs_200149635

2 SubmittersRCV000996351 RCV001514318

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

rs_769227978

2 SubmittersRCV000997003 RCV002067621

NM_002661.5(PLCG2):c.3343C>T (p.Pro1115Ser)

SNV
Germline

Chr16:81939921

Conflicting classifications of pathogenicity

Familial cold autoinflammatory syndrome 3
Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation
Familial cold autoinflammatory syndrome 3
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_372606303

3 SubmittersRCV001065204 RCV002489690 RCV004030576

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

rs_764354581

2 SubmittersRCV001091263 RCV001134053

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

rs_141436635

2 SubmittersRCV001091268 RCV003495231

NM_001243133.2(NLRP3):c.476G>T (p.Ser159Ile)

SNV
Germline

Chr1:247423925

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
NLRP3-related disorder

Criteria Provided
Conflicting Classifications

rs_374170024

3 SubmittersRCV001101931 RCV001101930 RCV001101932 RCV002556047 RCV004536155

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 amyloid nephropathy with urticaria AND deafness
Familial cold autoinflammatory syndrome 1
Cryopyrin associated periodic syndrome

Criteria Provided
Conflicting Classifications

rs_895366086

2 SubmittersRCV001098453 RCV001098455 RCV001098454 RCV002069660

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

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

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

rs_202169378

4 SubmittersRCV001135552 RCV001200245 RCV002558292

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

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

rs_773831845

2 SubmittersRCV001131322

NM_001243133.2(NLRP3):c.2686T>C (p.Ser896Pro)

SNV
Germline

Chr1:247443994

Conflicting classifications of pathogenicity

Cryopyrin associated periodic syndrome
Condition: not provided
Chronic infantile neurological, cutaneous and articular syndrome
Familial cold autoinflammatory syndrome 1
Keratitis fugax hereditaria
Familial amyloid nephropathy with urticaria AND deafness
Hearing loss, autosomal dominant 34, with or without inflammation

Criteria Provided
Conflicting Classifications

rs_151205016

4 SubmittersRCV001216824 RCV001587236 RCV002491671

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

rs_200374202

3 SubmittersRCV001223843 RCV002264234 RCV003963132

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

rs_748314396

3 SubmittersRCV001222826 RCV002264232 RCV004032454

NM_001243133.2(NLRP3):c.1090C>A (p.Arg364=)

SNV
Germline

Chr1:247424539

Conflicting classifications of pathogenicity

Cryopyrin associated periodic syndrome
Keratitis fugax hereditaria
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

Criteria Provided
Conflicting Classifications

rs_994458759

2 SubmittersRCV001226283 RCV002484230

NM_002661.5(PLCG2):c.2122G>C (p.Ala708Pro)

SNV
Germline

Chr16:81919551

Pathogenic

Familial cold autoinflammatory syndrome 3

Criteria Provided
Single Submitter

rs_1381167403

1 SubmittersRCV001227511

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

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

rs_773040139

2 SubmittersRCV001300282 RCV003222295

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

rs_773778524

2 SubmittersRCV001305030 RCV002504463

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

rs_761797236

2 SubmittersRCV001311460 RCV001871776

NM_001199138.2(NLRC4):c.26G>A (p.Arg9Gln)

SNV
Germline

Chr2:32252655

Conflicting classifications of pathogenicity

Periodic fever-infantile enterocolitis-autoinflammatory syndrome
Familial cold autoinflammatory syndrome 4
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_374574191

3 SubmittersRCV001320595 RCV004035010

NM_002661.5(PLCG2):c.2503C>A (p.Leu835Ile)

SNV
Germline

Chr16:81927167

Conflicting classifications of pathogenicity

Familial cold autoinflammatory syndrome 3
Familial cold autoinflammatory syndrome 3
Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_186829827

3 SubmittersRCV001322211 RCV002493683 RCV002511078

NM_002661.5(PLCG2):c.2739+19G>A

SNV
Germline

Chr16:81931673

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

rs_776050949

2 SubmittersRCV001317892 RCV002493662

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

rs_564767670

2 SubmittersRCV001335968 RCV002070208

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

rs_1386409873

3 SubmittersRCV001348316 RCV001553069 RCV002264275

NM_001243133.2(NLRP3):c.1371G>T (p.Glu457Asp)

SNV
Germline

Chr1:247424820

Conflicting classifications of pathogenicity

Cryopyrin associated periodic syndrome
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

Criteria Provided
Conflicting Classifications

rs_191754224

2 SubmittersRCV001367241 RCV002476676

NM_001199138.2(NLRC4):c.1476G>T (p.Arg492=)

SNV
Germline

Chr2:32250388

Conflicting classifications of pathogenicity

Familial cold autoinflammatory syndrome 4
Periodic fever-infantile enterocolitis-autoinflammatory syndrome
Autoinflammatory syndrome

Criteria Provided
Conflicting Classifications

rs_952121500

2 SubmittersRCV001432383 RCV002264315

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

rs_140557163

2 SubmittersRCV001427813 RCV004038249

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

rs_117094017

3 SubmittersRCV001444468 RCV002264321 RCV003334053

NM_001199138.2(NLRC4):c.105C>T (p.Arg35=)

SNV
Germline

Chr2:32252576

Conflicting classifications of pathogenicity

Periodic fever-infantile enterocolitis-autoinflammatory syndrome
Familial cold autoinflammatory syndrome 4
Autoinflammatory syndrome

Criteria Provided
Conflicting Classifications

rs_751915363

2 SubmittersRCV001436076 RCV002264320

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

rs_372502550

2 SubmittersRCV001425620 RCV002555515

NM_001199138.2(NLRC4):c.2957A>G (p.Lys986Arg)

SNV
Germline

Chr2:32224591

Conflicting classifications of pathogenicity

Familial cold autoinflammatory syndrome 4
Periodic fever-infantile enterocolitis-autoinflammatory syndrome
Autoinflammatory syndrome

Criteria Provided
Conflicting Classifications

rs_552117780

2 SubmittersRCV001472041 RCV002264339

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

rs_1464438302

2 SubmittersRCV001459754 RCV002264335

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

rs_2148942481

2 SubmittersRCV001455360 RCV002264333

NM_001199138.2(NLRC4):c.298G>A (p.Asp100Asn)

SNV
Germline

Chr2:32251566

Conflicting classifications of pathogenicity

Periodic fever-infantile enterocolitis-autoinflammatory syndrome
Familial cold autoinflammatory syndrome 4
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_149157799

2 SubmittersRCV001457772 RCV004038563

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

rs_373954247

4 SubmittersRCV001454648 RCV002264331 RCV003394060

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

rs_747968386

2 SubmittersRCV001489870 RCV002264353

NM_002661.5(PLCG2):c.3493G>A (p.Val1165Ile)

SNV
Germline

Chr16:81946186

Conflicting classifications of pathogenicity

Condition: not provided
Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation
Familial cold autoinflammatory syndrome 3
Familial cold autoinflammatory syndrome 3

Criteria Provided
Conflicting Classifications

rs_372557475

4 SubmittersRCV001508785 RCV002506590 RCV002567997

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

rs_767593863

2 SubmittersRCV001534015 RCV002568222

NM_001243133.2(NLRP3):c.2575T>C (p.Tyr859His)

SNV
Germline

Chr1:247436052

Pathogenic/Likely pathogenic

Condition: not provided
Keratitis fugax hereditaria
Familial cold autoinflammatory syndrome 1
Hearing loss, autosomal dominant 34, with or without inflammation
Chronic infantile neurological, cutaneous and articular syndrome
Familial amyloid nephropathy with urticaria AND deafness
Cryopyrin associated periodic syndrome
NLRP3-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

rs_2103174031

5 SubmittersRCV001547811 RCV002495875 RCV003594137 RCV004541995

NM_144687.4(NLRP12):c.2072+1G>C

SNV
Unknown

Chr19:53809586

Likely pathogenic

Familial cold autoinflammatory syndrome 2

Criteria Provided
Single Submitter

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

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

rs_763166039

3 SubmittersRCV001773003 RCV002488600

NM_144687.4(NLRP12):c.2879T>A (p.Leu960Ter)

SNV
Germline

Chr19:53798291

Likely pathogenic

Familial cold autoinflammatory syndrome 2

Criteria Provided
Single Submitter

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

rs_752647511

2 SubmittersRCV001812535 RCV002542348

NM_002661.5(PLCG2):c.2095G>A (p.Gly699Ser)

SNV
Germline

Chr16:81919524

Likely pathogenic

Familial cold autoinflammatory syndrome 3

Criteria Provided
Single Submitter

rs_753618006

1 SubmittersRCV001824263

NM_001199138.2(NLRC4):c.704T>C (p.Met235Thr)

SNV
Germline

Chr2:32251160

Conflicting classifications of pathogenicity

Periodic fever-infantile enterocolitis-autoinflammatory syndrome
Familial cold autoinflammatory syndrome 4
Autoinflammatory syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_770505969

3 SubmittersRCV001928506 RCV002264427 RCV003375437

NM_001243133.2(NLRP3):c.2273T>C (p.Val758Ala)

SNV
Germline

Chr1:247429707

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 cold autoinflammatory syndrome 1
Familial amyloid nephropathy with urticaria AND deafness

Criteria Provided
Conflicting Classifications

rs_770791406

3 SubmittersRCV001985457 RCV002260715 RCV002484754

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

rs_2091941014

2 SubmittersRCV001905501 RCV002264406

NM_144687.4(NLRP12):c.306C>T (p.Gly102=)

SNV
Germline

Chr19:53814972

Conflicting classifications of pathogenicity

Familial cold autoinflammatory syndrome 2
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_745452377

2 SubmittersRCV001896224 RCV002264419

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

rs_143515989

3 SubmittersRCV001913172 RCV002264423 RCV003426242

NM_144687.4(NLRP12):c.1908C>A (p.Ile636=)

SNV
Germline

Chr19:53809751

Conflicting classifications of pathogenicity

Familial cold autoinflammatory syndrome 2
Autoinflammatory syndrome

Criteria Provided
Conflicting Classifications

rs_1454297839

2 SubmittersRCV002202220 RCV002264456

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

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

rs_374768937

2 SubmittersRCV002100336 RCV003015243

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

rs_764841108

2 SubmittersRCV002135591 RCV002264468

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

rs_148263031

3 SubmittersRCV002116557 RCV002264466

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

rs_200736514

2 SubmittersRCV002106384 RCV003053434

NM_001199138.2(NLRC4):c.1550G>C (p.Cys517Ser)

SNV
Germline

Chr2:32250314

Conflicting classifications of pathogenicity

Autoinflammatory syndrome
Inborn genetic diseases
Familial cold autoinflammatory syndrome 4
Periodic fever-infantile enterocolitis-autoinflammatory syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_779390608

4 SubmittersRCV002262085 RCV003095941 RCV003774822 RCV003222408

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

rs_1474523535

2 SubmittersRCV002262106 RCV003774824

NM_144687.4(NLRP12):c.1060C>G (p.Leu354Val)