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.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.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.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_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.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.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.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_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_001243133.2(NLRP3):c.404G>A (p.Arg135His)	SNV Germline	Chr1:247423853	Conflicting classifications of pathogenicity	Condition: not provided Cryopyrin associated periodic syndrome not specified Autoinflammatory syndrome Familial amyloid nephropathy with urticaria AND deafness Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA1494868	rs_138946894	7 SubmittersRCV000219739 RCV001067333 RCV001195580 RCV002262813 RCV002288904 RCV002516185
NM_001243133.2(NLRP3):c.628G>A (p.Asp210Asn)	SNV Germline	Chr1:247424077	Conflicting classifications of pathogenicity	Condition: not provided Cryopyrin associated periodic syndrome	Criteria Provided Conflicting Classifications	CA1494911	rs_372038150	2 SubmittersRCV000220665 RCV002516186
NM_001243133.2(NLRP3):c.224C>T (p.Ala75Val)	SNV Germline	Chr1:247419024	Conflicting classifications of pathogenicity	not specified Cryopyrin associated periodic syndrome Condition: not provided Autoinflammatory syndrome Inborn genetic diseases NLRP3-related disorder	Criteria Provided Conflicting Classifications	CA1494766	rs_200288250	7 SubmittersRCV000213778 RCV000690646 RCV001200569 RCV002262812 RCV002519742 RCV004532810
NM_001243133.2(NLRP3):c.578C>T (p.Thr193Met)	SNV Germline	Chr1:247424027	Conflicting classifications of pathogenicity	Condition: not provided Cryopyrin associated periodic syndrome	Criteria Provided Conflicting Classifications	CA1494898	rs_76291085	4 SubmittersRCV000761714 RCV001070393
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.2611G>A (p.Ala871Thr)	SNV Germline	Chr1:247436088	Conflicting classifications of pathogenicity	Condition: not provided Cryopyrin associated periodic syndrome	Criteria Provided Conflicting Classifications	CA1495309	rs_201867582	2 SubmittersRCV000217829 RCV000698307
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.2132A>T (p.His711Leu)	SNV Germline	Chr1:247425581	Conflicting classifications of pathogenicity	not specified Cryopyrin associated periodic syndrome	Criteria Provided Conflicting Classifications	CA1495118	rs_767805817	2 SubmittersRCV000236046 RCV003765482
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_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.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_001243133.2(NLRP3):c.2493-8T>A	SNV Germline	Chr1:247435962	Conflicting classifications of pathogenicity	not specified Cryopyrin associated periodic syndrome	Criteria Provided Conflicting Classifications	CA1495280	rs_199858933	2 SubmittersRCV000413925 RCV002058864
NM_001243133.2(NLRP3):c.1317G>A (p.Ala439=)	SNV Germline	Chr1:247424766	Conflicting classifications of pathogenicity	not specified Cryopyrin associated periodic syndrome Autoinflammatory syndrome	Criteria Provided Conflicting Classifications	CA1495009	rs_201976178	3 SubmittersRCV000420983 RCV001504602 RCV002263685
NM_001243133.2(NLRP3):c.2753G>A (p.Arg918Gln)	SNV Germline	Chr1:247444061	Conflicting classifications of pathogenicity	Hearing loss, autosomal dominant 34, with or without inflammation Cryopyrin associated periodic syndrome Condition: not provided NLRP3-related disorder	Criteria Provided Conflicting Classifications	CA345565085	rs_1553293095	4 SubmittersRCV000515640 RCV000693681 RCV001591164 RCV003335442
NM_001243133.2(NLRP3):c.146A>G (p.His49Arg)	SNV Germline	Chr1:247418946	Conflicting classifications of pathogenicity	Condition: not provided Cryopyrin associated periodic syndrome	Criteria Provided Conflicting Classifications	CA1494752	rs_367663649	4 SubmittersRCV000726996 RCV003593979
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_001243133.2(NLRP3):c.1323C>T (p.Tyr441=)	SNV Germline	Chr1:247424772	Conflicting classifications of pathogenicity	not specified Cryopyrin associated periodic syndrome Autoinflammatory syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA1495010	rs_200269703	4 SubmittersRCV000608936 RCV001482913 RCV002263821 RCV003311858
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_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_001243133.2(NLRP3):c.2134G>T (p.Ala712Ser)	SNV Germline	Chr1:247425583	Conflicting classifications of pathogenicity	Cryopyrin associated periodic syndrome Condition: not provided	Criteria Provided Conflicting Classifications		rs_200474460	2 SubmittersRCV000694787 RCV002060876
NM_001243133.2(NLRP3):c.269C>T (p.Pro90Leu)	SNV Germline	Chr1:247419069	Conflicting classifications of pathogenicity	Condition: not provided Cryopyrin associated periodic syndrome	Criteria Provided Conflicting Classifications		rs_145774400	2 SubmittersRCV000756444 RCV002536560
NM_001243133.2(NLRP3):c.2668G>T (p.Val890Leu)	SNV Germline	Chr1:247443976	Conflicting classifications of pathogenicity	Cryopyrin associated periodic syndrome Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_193085132	4 SubmittersRCV000798087 RCV000756445 RCV004027125
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_001243133.2(NLRP3):c.1976T>G (p.Met659Arg)	SNV Germline	Chr1:247425425	Likely pathogenic	Cryopyrin associated periodic syndrome	Criteria Provided Single Submitter		rs_180177457	1 SubmittersRCV000796758
NM_001243133.2(NLRP3):c.1079T>A (p.Leu360Gln)	SNV Germline	Chr1:247424528	Conflicting classifications of pathogenicity	not specified Cryopyrin associated periodic syndrome Condition: not provided	Criteria Provided Conflicting Classifications		rs_201593863	3 SubmittersRCV000825678 RCV001441694 RCV001574355
NM_001243133.2(NLRP3):c.2419G>A (p.Ala807Thr)	SNV Germline	Chr1:247434200	Conflicting classifications of pathogenicity	Cryopyrin associated periodic syndrome Condition: not provided Autoinflammatory syndrome	Criteria Provided Conflicting Classifications		rs_201096167	6 SubmittersRCV000874939 RCV001572321 RCV002264036
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_001243133.2(NLRP3):c.2610C>T (p.Val870=)	SNV Germline	Chr1:247436087	Conflicting classifications of pathogenicity	Cryopyrin associated periodic syndrome Autoinflammatory syndrome	Criteria Provided Conflicting Classifications		rs_140618467	2 SubmittersRCV001501450 RCV002264102
NM_001243133.2(NLRP3):c.905T>G (p.Phe302Cys)	SNV Germline	Chr1:247424354	Pathogenic	Cryopyrin associated periodic syndrome	Criteria Provided Single Submitter		rs_1662701151	1 SubmittersRCV001039313
NM_001243133.2(NLRP3):c.1217T>C (p.Met406Thr)	SNV Germline	Chr1:247424666	Pathogenic	Cryopyrin associated periodic syndrome	Criteria Provided Single Submitter		rs_1662731815	1 SubmittersRCV001053828
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_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_001243133.2(NLRP3):c.1000A>G (p.Ile334Val)	SNV Germline	Chr1:247424449	Likely pathogenic	Cryopyrin associated periodic syndrome	Criteria Provided Single Submitter		rs_1662713003	1 SubmittersRCV001202650
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_001243133.2(NLRP3):c.2732A>G (p.Asn911Ser)	SNV Germline	Chr1:247444040	Conflicting classifications of pathogenicity	Condition: not provided Cryopyrin associated periodic syndrome NLRP3-related disorder	Criteria Provided Conflicting Classifications		rs_577683668	3 SubmittersRCV001312144 RCV001871787 RCV004531098
NM_001243133.2(NLRP3):c.1937A>G (p.Asp646Gly)	SNV Germline	Chr1:247425386	Conflicting classifications of pathogenicity	Chronic infantile neurological, cutaneous and articular syndrome Cryopyrin associated periodic syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_1342790456	3 SubmittersRCV001329328 RCV003759045 RCV004035671
NM_001243133.2(NLRP3):c.299C>T (p.Ser100Leu)	SNV Germline	Chr1:247423251	Conflicting classifications of pathogenicity	Condition: not provided Cryopyrin associated periodic syndrome	Criteria Provided Conflicting Classifications		rs_776897356	2 SubmittersRCV001587380 RCV001370815
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_001243133.2(NLRP3):c.1218G>A (p.Met406Ile)	SNV Germline	Chr1:247424667	Likely pathogenic	Cryopyrin associated periodic syndrome	Criteria Provided Single Submitter		rs_180177486	1 SubmittersRCV001377285
NM_001243133.2(NLRP3):c.220G>A (p.Ala74Thr)	SNV Germline	Chr1:247419020	Conflicting classifications of pathogenicity	Cryopyrin associated periodic syndrome NLRP3-related disorder	Criteria Provided Conflicting Classifications		rs_537715421	2 SubmittersRCV001391766 RCV004531201
NM_001243133.2(NLRP3):c.2151-9A>C	SNV Germline	Chr1:247429576	Conflicting classifications of pathogenicity	Cryopyrin associated periodic syndrome not specified	Criteria Provided Conflicting Classifications		rs_762817427	2 SubmittersRCV001438289 RCV003323880
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_001243133.2(NLRP3):c.282A>T (p.Ser94=)	SNV Germline	Chr1:247423234	Conflicting classifications of pathogenicity	Condition: not provided Cryopyrin associated periodic syndrome	Criteria Provided Conflicting Classifications		rs_374949230	2 SubmittersRCV001760580 RCV002074010
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_001243133.2(NLRP3):c.1700A>C (p.Glu567Ala)	SNV Germline	Chr1:247425149	Likely pathogenic	Cryopyrin associated periodic syndrome	Criteria Provided Single Submitter		rs_2103112233	1 SubmittersRCV002006217
NM_001243133.2(NLRP3):c.1269G>A (p.Gln423=)	SNV Germline	Chr1:247424718	Conflicting classifications of pathogenicity	Autoinflammatory syndrome Cryopyrin associated periodic syndrome NLRP3-related disorder	Criteria Provided Conflicting Classifications		rs_201035625	3 SubmittersRCV002262153 RCV003107976 RCV004545266
NM_001243133.2(NLRP3):c.2263G>A (p.Gly755Arg)	SNV Germline	Chr1:247429697	Pathogenic	Cryopyrin associated periodic syndrome	Criteria Provided Single Submitter			1 SubmittersRCV002651438
NM_001243133.2(NLRP3):c.1706G>A (p.Gly569Glu)	SNV Germline	Chr1:247425155	Likely pathogenic	Cryopyrin associated periodic syndrome	Criteria Provided Single Submitter			1 SubmittersRCV002933218
NM_001243133.2(NLRP3):c.1305G>C (p.Lys435Asn)	SNV Germline	Chr1:247424754	Pathogenic	Cryopyrin associated periodic syndrome	Criteria Provided Single Submitter			1 SubmittersRCV003038211
NM_001243133.2(NLRP3):c.2630C>G (p.Ala877Gly)	SNV Germline	Chr1:247436107	Conflicting classifications of pathogenicity	Hearing loss, autosomal dominant 34, with or without inflammation Cryopyrin associated periodic syndrome	Criteria Provided Conflicting Classifications			2 SubmittersRCV003229555 RCV003779832

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.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.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.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_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.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.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.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_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_001243133.2(NLRP3):c.404G>A (p.Arg135His)

SNV
Germline

Chr1:247423853

Conflicting classifications of pathogenicity

Condition: not provided
Cryopyrin associated periodic syndrome
not specified
Autoinflammatory syndrome
Familial amyloid nephropathy with urticaria AND deafness
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1494868

rs_138946894

7 SubmittersRCV000219739 RCV001067333 RCV001195580 RCV002262813 RCV002288904 RCV002516185

NM_001243133.2(NLRP3):c.628G>A (p.Asp210Asn)

SNV
Germline

Chr1:247424077

Conflicting classifications of pathogenicity

Condition: not provided
Cryopyrin associated periodic syndrome

Criteria Provided
Conflicting Classifications

CA1494911

rs_372038150

2 SubmittersRCV000220665 RCV002516186

NM_001243133.2(NLRP3):c.224C>T (p.Ala75Val)

SNV
Germline

Chr1:247419024

Conflicting classifications of pathogenicity

not specified
Cryopyrin associated periodic syndrome
Condition: not provided
Autoinflammatory syndrome
Inborn genetic diseases
NLRP3-related disorder

Criteria Provided
Conflicting Classifications

CA1494766

rs_200288250

7 SubmittersRCV000213778 RCV000690646 RCV001200569 RCV002262812 RCV002519742 RCV004532810

NM_001243133.2(NLRP3):c.578C>T (p.Thr193Met)

SNV
Germline

Chr1:247424027

Conflicting classifications of pathogenicity

Condition: not provided
Cryopyrin associated periodic syndrome

Criteria Provided
Conflicting Classifications

CA1494898

rs_76291085

4 SubmittersRCV000761714 RCV001070393

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.2611G>A (p.Ala871Thr)

SNV
Germline

Chr1:247436088

Conflicting classifications of pathogenicity

Condition: not provided
Cryopyrin associated periodic syndrome

Criteria Provided
Conflicting Classifications

CA1495309

rs_201867582

2 SubmittersRCV000217829 RCV000698307

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.2132A>T (p.His711Leu)

SNV
Germline

Chr1:247425581

Conflicting classifications of pathogenicity

not specified
Cryopyrin associated periodic syndrome

Criteria Provided
Conflicting Classifications

CA1495118

rs_767805817

2 SubmittersRCV000236046 RCV003765482

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_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.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_001243133.2(NLRP3):c.2493-8T>A

SNV
Germline

Chr1:247435962

Conflicting classifications of pathogenicity

not specified
Cryopyrin associated periodic syndrome

Criteria Provided
Conflicting Classifications

CA1495280

rs_199858933

2 SubmittersRCV000413925 RCV002058864

NM_001243133.2(NLRP3):c.1317G>A (p.Ala439=)

SNV
Germline

Chr1:247424766

Conflicting classifications of pathogenicity

not specified
Cryopyrin associated periodic syndrome
Autoinflammatory syndrome

Criteria Provided
Conflicting Classifications

CA1495009

rs_201976178

3 SubmittersRCV000420983 RCV001504602 RCV002263685

NM_001243133.2(NLRP3):c.2753G>A (p.Arg918Gln)

SNV
Germline

Chr1:247444061

Conflicting classifications of pathogenicity

Hearing loss, autosomal dominant 34, with or without inflammation
Cryopyrin associated periodic syndrome
Condition: not provided
NLRP3-related disorder

Criteria Provided
Conflicting Classifications

CA345565085

rs_1553293095

4 SubmittersRCV000515640 RCV000693681 RCV001591164 RCV003335442

NM_001243133.2(NLRP3):c.146A>G (p.His49Arg)

SNV
Germline

Chr1:247418946

Conflicting classifications of pathogenicity

Condition: not provided
Cryopyrin associated periodic syndrome

Criteria Provided
Conflicting Classifications

CA1494752

rs_367663649

4 SubmittersRCV000726996 RCV003593979

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_001243133.2(NLRP3):c.1323C>T (p.Tyr441=)

SNV
Germline

Chr1:247424772

Conflicting classifications of pathogenicity

not specified
Cryopyrin associated periodic syndrome
Autoinflammatory syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1495010

rs_200269703

4 SubmittersRCV000608936 RCV001482913 RCV002263821 RCV003311858

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_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_001243133.2(NLRP3):c.2134G>T (p.Ala712Ser)

SNV
Germline

Chr1:247425583

Conflicting classifications of pathogenicity

Cryopyrin associated periodic syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_200474460

2 SubmittersRCV000694787 RCV002060876

NM_001243133.2(NLRP3):c.269C>T (p.Pro90Leu)

SNV
Germline

Chr1:247419069

Conflicting classifications of pathogenicity

Condition: not provided
Cryopyrin associated periodic syndrome

Criteria Provided
Conflicting Classifications

rs_145774400

2 SubmittersRCV000756444 RCV002536560

NM_001243133.2(NLRP3):c.2668G>T (p.Val890Leu)

SNV
Germline

Chr1:247443976

Conflicting classifications of pathogenicity

Cryopyrin associated periodic syndrome
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_193085132

4 SubmittersRCV000798087 RCV000756445 RCV004027125

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_001243133.2(NLRP3):c.1976T>G (p.Met659Arg)

SNV
Germline

Chr1:247425425

Likely pathogenic

Cryopyrin associated periodic syndrome

Criteria Provided
Single Submitter

rs_180177457

1 SubmittersRCV000796758

NM_001243133.2(NLRP3):c.1079T>A (p.Leu360Gln)

SNV
Germline

Chr1:247424528

Conflicting classifications of pathogenicity

not specified
Cryopyrin associated periodic syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_201593863

3 SubmittersRCV000825678 RCV001441694 RCV001574355

NM_001243133.2(NLRP3):c.2419G>A (p.Ala807Thr)

SNV
Germline

Chr1:247434200

Conflicting classifications of pathogenicity

Cryopyrin associated periodic syndrome
Condition: not provided
Autoinflammatory syndrome

Criteria Provided
Conflicting Classifications

rs_201096167

6 SubmittersRCV000874939 RCV001572321 RCV002264036

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_001243133.2(NLRP3):c.2610C>T (p.Val870=)

SNV
Germline

Chr1:247436087

Conflicting classifications of pathogenicity

Cryopyrin associated periodic syndrome
Autoinflammatory syndrome

Criteria Provided
Conflicting Classifications

rs_140618467

2 SubmittersRCV001501450 RCV002264102

NM_001243133.2(NLRP3):c.905T>G (p.Phe302Cys)

SNV
Germline

Chr1:247424354

Pathogenic

Cryopyrin associated periodic syndrome

Criteria Provided
Single Submitter

rs_1662701151

1 SubmittersRCV001039313

NM_001243133.2(NLRP3):c.1217T>C (p.Met406Thr)

SNV
Germline

Chr1:247424666

Pathogenic

Cryopyrin associated periodic syndrome

Criteria Provided
Single Submitter

rs_1662731815

1 SubmittersRCV001053828

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_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_001243133.2(NLRP3):c.1000A>G (p.Ile334Val)

SNV
Germline

Chr1:247424449

Likely pathogenic

Cryopyrin associated periodic syndrome

Criteria Provided
Single Submitter

rs_1662713003

1 SubmittersRCV001202650

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_001243133.2(NLRP3):c.2732A>G (p.Asn911Ser)

SNV
Germline

Chr1:247444040

Conflicting classifications of pathogenicity

Condition: not provided
Cryopyrin associated periodic syndrome
NLRP3-related disorder

Criteria Provided
Conflicting Classifications

rs_577683668

3 SubmittersRCV001312144 RCV001871787 RCV004531098

NM_001243133.2(NLRP3):c.1937A>G (p.Asp646Gly)

SNV
Germline

Chr1:247425386

Conflicting classifications of pathogenicity

Chronic infantile neurological, cutaneous and articular syndrome
Cryopyrin associated periodic syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_1342790456

3 SubmittersRCV001329328 RCV003759045 RCV004035671

NM_001243133.2(NLRP3):c.299C>T (p.Ser100Leu)

SNV
Germline

Chr1:247423251

Conflicting classifications of pathogenicity

Condition: not provided
Cryopyrin associated periodic syndrome

Criteria Provided
Conflicting Classifications

rs_776897356

2 SubmittersRCV001587380 RCV001370815

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_001243133.2(NLRP3):c.1218G>A (p.Met406Ile)

SNV
Germline

Chr1:247424667

Likely pathogenic

Cryopyrin associated periodic syndrome

Criteria Provided
Single Submitter

rs_180177486

1 SubmittersRCV001377285

NM_001243133.2(NLRP3):c.220G>A (p.Ala74Thr)

SNV
Germline

Chr1:247419020

Conflicting classifications of pathogenicity

Cryopyrin associated periodic syndrome
NLRP3-related disorder

Criteria Provided
Conflicting Classifications

rs_537715421

2 SubmittersRCV001391766 RCV004531201

NM_001243133.2(NLRP3):c.2151-9A>C

SNV
Germline

Chr1:247429576

Conflicting classifications of pathogenicity

Cryopyrin associated periodic syndrome
not specified

Criteria Provided
Conflicting Classifications

rs_762817427

2 SubmittersRCV001438289 RCV003323880

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_001243133.2(NLRP3):c.282A>T (p.Ser94=)

SNV
Germline

Chr1:247423234

Conflicting classifications of pathogenicity

Condition: not provided
Cryopyrin associated periodic syndrome

Criteria Provided
Conflicting Classifications

rs_374949230

2 SubmittersRCV001760580 RCV002074010

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_001243133.2(NLRP3):c.1700A>C (p.Glu567Ala)

SNV
Germline

Chr1:247425149

Likely pathogenic

Cryopyrin associated periodic syndrome

Criteria Provided
Single Submitter

rs_2103112233

1 SubmittersRCV002006217

NM_001243133.2(NLRP3):c.1269G>A (p.Gln423=)