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 Familial amyloid nephropathy with urticaria AND deafness Hearing loss, autosomal dominant 34, with or without inflammation Familial cold autoinflammatory syndrome 1 Keratitis fugax hereditaria Chronic infantile neurological, cutaneous and articular syndrome Autoinflammatory syndrome	Criteria Provided Multiple Submitters No Conflicts	CA280958	rs_121908146	12 SubmittersRCV000004618 RCV000214900 RCV000701554 RCV002476928 RCV002262553
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 amyloid nephropathy with urticaria AND deafness Familial cold autoinflammatory syndrome 1 Chronic infantile neurological, cutaneous and articular syndrome Cryopyrin associated periodic syndrome Kidney disorder Autoinflammatory syndrome Hearing loss, autosomal dominant 34, with or without inflammation Familial amyloid nephropathy with urticaria AND deafness Keratitis fugax hereditaria Hearing loss, autosomal dominant 34, with or without inflammation Familial cold autoinflammatory syndrome 1 Chronic infantile neurological, cutaneous and articular syndrome NLRP3-related disorder Chronic infantile neurological, cutaneous and articular syndrome	Criteria Provided Conflicting Classifications	CA280962	rs_121908147	18 SubmittersRCV000004619 RCV000224634 RCV000248492 RCV000509555 RCV001082121 RCV002293975 RCV002262554 RCV000791008 RCV003224088 RCV004528070 RCV005256547
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 Cryopyrin associated periodic syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA116780	rs_121908149	4 SubmittersRCV000004621 RCV000084171 RCV001225906 RCV001091235
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	10 SubmittersRCV000004622 RCV000004623 RCV000221297 RCV001067187 RCV002262556
NM_001243133.2(NLRP3):c.1705G>C (p.Gly569Arg)	SNV Germline	Chr1:247425154	Likely pathogenic	Familial amyloid nephropathy with urticaria AND deafness Familial cold autoinflammatory syndrome 1	Criteria Provided Single Submitter	CA116788	rs_121908151	3 SubmittersRCV000004624 RCV000084204
NM_001243133.2(NLRP3):c.907G>A (p.Asp303Asn)	SNV Germline	Chr1:247424356	Pathogenic	Familial amyloid nephropathy with urticaria AND deafness Chronic infantile neurological, cutaneous and articular syndrome Familial cold autoinflammatory syndrome 1 Condition: not provided Cryopyrin associated periodic syndrome	Criteria Provided Multiple Submitters No Conflicts	CA116796	rs_121908153	8 SubmittersRCV000004627 RCV000004626 RCV000084240 RCV000214348 RCV000527671
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 Familial amyloid nephropathy with urticaria AND deafness Hearing loss, autosomal dominant 34, with or without inflammation Familial cold autoinflammatory syndrome 1 Keratitis fugax hereditaria Chronic infantile neurological, cutaneous and articular syndrome NLRP3-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA280970	rs_28937896	8 SubmittersRCV000004629 RCV000219571 RCV001000586 RCV000795773 RCV000762894 RCV005406723
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 Familial amyloid nephropathy with urticaria AND deafness Chronic infantile neurological, cutaneous and articular syndrome	Criteria Provided Multiple Submitters No Conflicts	CA281117	rs_151344629	10 SubmittersRCV000084167 RCV000214584 RCV000449533 RCV000540218 RCV002262687 RCV002464107
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 NLRP3-related disorder Keratitis fugax hereditaria Familial amyloid nephropathy with urticaria AND deafness Hearing loss, autosomal dominant 34, with or without inflammation Familial cold autoinflammatory syndrome 1 Chronic infantile neurological, cutaneous and articular syndrome not specified	Criteria Provided Conflicting Classifications	CA281217	rs_145268073	13 SubmittersRCV000084193 RCV000223458 RCV001085335 RCV001375155 RCV002262693 RCV004739345 RCV005016374 RCV005406815
NM_001243133.2(NLRP3):c.1985T>C (p.Met662Thr)	SNV Germline	Chr1:247425434	Likely pathogenic	Familial cold autoinflammatory syndrome 1 Familial amyloid nephropathy with urticaria AND deafness	Criteria Provided Single Submitter	CA281290	rs_180177435	2 SubmittersRCV000084214 RCV004720235
NM_001243133.2(NLRP3):c.2576A>G (p.Tyr859Cys)	SNV Germline	Chr1:247436053	Pathogenic/Likely pathogenic	Familial cold autoinflammatory syndrome 1 Condition: not provided Familial amyloid nephropathy with urticaria AND deafness Chronic infantile neurological, cutaneous and articular syndrome Keratitis fugax hereditaria Familial cold autoinflammatory syndrome 1 Hearing loss, autosomal dominant 34, with or without inflammation Familial amyloid nephropathy with urticaria AND deafness	Criteria Provided Multiple Submitters No Conflicts	CA281318	rs_180177452	4 SubmittersRCV000084221 RCV000216746 RCV004720236 RCV003389316
NM_001243133.2(NLRP3):c.587G>A (p.Ser196Asn)	SNV Germline	Chr1:247424036	Conflicting classifications of pathogenicity	Familial cold autoinflammatory syndrome 1 Familial amyloid nephropathy with urticaria AND deafness Chronic infantile neurological, cutaneous and articular syndrome Cryopyrin associated periodic syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA281335	rs_180177459	4 SubmittersRCV000084226 RCV000365471 RCV000308464 RCV001465871 RCV003229808
NM_001243133.2(NLRP3):c.931G>A (p.Glu311Lys)	SNV Germline	Chr1:247424380	Pathogenic	Familial cold autoinflammatory syndrome 1 Condition: not provided Familial amyloid nephropathy with urticaria AND deafness Cryopyrin associated periodic syndrome Familial amyloid nephropathy with urticaria AND deafness Keratitis fugax hereditaria Hearing loss, autosomal dominant 34, with or without inflammation Familial cold autoinflammatory syndrome 1 Chronic infantile neurological, cutaneous and articular syndrome	Criteria Provided Multiple Submitters No Conflicts	CA281423	rs_180177470	5 SubmittersRCV000084250 RCV001312141 RCV002464108 RCV003593910 RCV005016377
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 Familial amyloid nephropathy with urticaria AND deafness Chronic infantile neurological, cutaneous and articular syndrome Autoinflammatory syndrome Inborn genetic diseases Keratitis fugax hereditaria Familial amyloid nephropathy with urticaria AND deafness Hearing loss, autosomal dominant 34, with or without inflammation Familial cold autoinflammatory syndrome 1 Chronic infantile neurological, cutaneous and articular syndrome	Criteria Provided Conflicting Classifications	CA281431	rs_180177501	13 SubmittersRCV000084252 RCV000521236 RCV000525710 RCV000825406 RCV001102016 RCV001100031 RCV002262699 RCV002513894 RCV005016378
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 Familial amyloid nephropathy with urticaria AND deafness Chronic infantile neurological, cutaneous and articular syndrome not specified Cryopyrin associated periodic syndrome Autoinflammatory syndrome Kidney disorder	Criteria Provided Conflicting Classifications	CA281435	rs_180177462	6 SubmittersRCV000084253 RCV000213159 RCV000344447 RCV000378566 RCV001195579 RCV001226114 RCV002262700 RCV002294026
NM_001243133.2(NLRP3):c.1584C>T (p.Ala528=)	SNV Germline	Chr1:247425033	Conflicting classifications of pathogenicity	not specified Familial cold autoinflammatory syndrome 1 Chronic infantile neurological, cutaneous and articular syndrome Familial amyloid nephropathy with urticaria AND deafness Autoinflammatory syndrome Cryopyrin associated periodic syndrome	Criteria Provided Conflicting Classifications	CA292567	rs_201644343	4 SubmittersRCV000127222 RCV000325594 RCV000364278 RCV000268161 RCV002262736 RCV002515913
NM_001243133.2(NLRP3):c.2118C>T (p.Leu706=)	SNV Germline	Chr1:247425567	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	Criteria Provided Conflicting Classifications	CA292573	rs_149493236	5 SubmittersRCV000127224 RCV000361891 RCV000307210 RCV000396527 RCV000877580 RCV001312143 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 Chronic infantile neurological, cutaneous and articular syndrome Familial cold autoinflammatory syndrome 1 Hearing loss, autosomal dominant 34, with or without inflammation Familial amyloid nephropathy with urticaria AND deafness Keratitis fugax hereditaria Cleft palate	Criteria Provided Conflicting Classifications	CA1494868	rs_138946894	11 SubmittersRCV000219739 RCV001067333 RCV001195580 RCV002262813 RCV002288904 RCV002516185 RCV005016607 RCV005623319
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	13 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 Cryopyrin associated periodic syndrome Chronic infantile neurological, cutaneous and articular syndrome Familial cold autoinflammatory syndrome 1	Criteria Provided Conflicting Classifications	CA1495237	rs_141389711	3 SubmittersRCV000218819 RCV001098562 RCV001087354 RCV001098560 RCV001098561
NM_001243133.2(NLRP3):c.2611G>A (p.Ala871Thr)	SNV Germline	Chr1:247436088	Conflicting classifications of pathogenicity	Condition: not provided Cryopyrin associated periodic syndrome Keratitis fugax hereditaria Chronic infantile neurological, cutaneous and articular syndrome Familial cold autoinflammatory syndrome 1 Hearing loss, autosomal dominant 34, with or without inflammation Familial amyloid nephropathy with urticaria AND deafness	Criteria Provided Conflicting Classifications	CA1495309	rs_201867582	3 SubmittersRCV000217829 RCV000698307 RCV005025366
NM_001243133.2(NLRP3):c.2738C>T (p.Thr913Met)	SNV Germline	Chr1:247444046	Conflicting classifications of pathogenicity	Condition: not provided Cryopyrin associated periodic syndrome Chronic infantile neurological, cutaneous and articular syndrome Familial amyloid nephropathy with urticaria AND deafness Familial cold autoinflammatory syndrome 1 Hearing loss, autosomal dominant 34, with or without inflammation Keratitis fugax hereditaria	Criteria Provided Conflicting Classifications	CA1495347	rs_765925466	4 SubmittersRCV000221423 RCV001854729 RCV005016608
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 Chronic infantile neurological, cutaneous and articular syndrome Familial amyloid nephropathy with urticaria AND deafness Cryopyrin associated periodic syndrome not specified	Criteria Provided Conflicting Classifications	CA1495350	rs_200089542	6 SubmittersRCV000220153 RCV000298441 RCV000394837 RCV000337870 RCV000813164 RCV006456860
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 Familial amyloid nephropathy with urticaria AND deafness Condition: not provided Cryopyrin associated periodic syndrome Focal segmental glomerulosclerosis Autoinflammatory syndrome Acute myeloid leukemia Hepatocellular carcinoma Cervical cancer Uterine corpus endometrial carcinoma Malignant lymphoma, large B-cell, diffuse Colon adenocarcinoma Thymoma Colorectal cancer Melanoma	Criteria Provided Conflicting Classifications	CA1495112	rs_35829419	19 SubmittersRCV000246002 RCV000282807 RCV000340224 RCV000394881 RCV000416176 RCV000531876 RCV002294151 RCV002262891 RCV005892767 RCV005892768 RCV005892769 RCV005892774 RCV005892770 RCV005892766 RCV005892772 RCV005892771 RCV005892773
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 Autoinflammatory syndrome NLRP3-related disorder not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA1495236	rs_147154764	8 SubmittersRCV000286815 RCV000345238 RCV000402598 RCV000892571 RCV002262945 RCV004543173 RCV005431603 RCV001597041
NM_001243133.2(NLRP3):c.-122T>C	SNV Germline	Chr1:247418679	Conflicting classifications of pathogenicity	Familial cold autoinflammatory syndrome 1 Chronic infantile neurological, cutaneous and articular syndrome Familial amyloid nephropathy with urticaria AND deafness Condition: not provided	Criteria Provided Conflicting Classifications	CA10610773	rs_202234129	3 SubmittersRCV000262849 RCV000318127 RCV000352923 RCV002510839
NM_001243133.2(NLRP3):c.28A>C (p.Arg10=)	SNV Germline	Chr1:247418828	Conflicting classifications of pathogenicity	Familial cold autoinflammatory syndrome 1 Chronic infantile neurological, cutaneous and articular syndrome Familial amyloid nephropathy with urticaria AND deafness Cryopyrin associated periodic syndrome	Criteria Provided Conflicting Classifications	CA10610852	rs_1057515531	2 SubmittersRCV000295170 RCV000352212 RCV000396934 RCV005055849
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.203T>C (p.Met68Thr)	SNV Germline	Chr1:247419003	Conflicting classifications of pathogenicity	Familial amyloid nephropathy with urticaria AND deafness Familial cold autoinflammatory syndrome 1 Chronic infantile neurological, cutaneous and articular syndrome Cryopyrin associated periodic syndrome NLRP3-related disorder not specified Keratitis fugax hereditaria Hearing loss, autosomal dominant 34, with or without inflammation Familial cold autoinflammatory syndrome 1 Familial amyloid nephropathy with urticaria AND deafness Chronic infantile neurological, cutaneous and articular syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA1494761	rs_147559626	6 SubmittersRCV000302044 RCV000359131 RCV000401166 RCV001484202 RCV004537664 RCV005407033 RCV002502179 RCV004791393
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 Keratitis fugax hereditaria Hearing loss, autosomal dominant 34, with or without inflammation Familial cold autoinflammatory syndrome 1 Familial amyloid nephropathy with urticaria AND deafness Chronic infantile neurological, cutaneous and articular syndrome	Criteria Provided Conflicting Classifications	CA1495015	rs_199696688	7 SubmittersRCV000314760 RCV000349546 RCV000401914 RCV001195578 RCV001569340 RCV001850556 RCV005016694
NM_001243133.2(NLRP3):c.1625C>T (p.Thr542Met)	SNV Germline	Chr1:247425074	Conflicting classifications of pathogenicity	Condition: not provided Cryopyrin associated periodic syndrome Familial amyloid nephropathy with urticaria AND deafness Hearing loss, autosomal dominant 34, with or without inflammation Familial cold autoinflammatory syndrome 1 Chronic infantile neurological, cutaneous and articular syndrome Keratitis fugax hereditaria Chronic infantile neurological, cutaneous and articular syndrome	Criteria Provided Conflicting Classifications	CA1495043	rs_199856287	4 SubmittersRCV000485294 RCV001339255 RCV002489142 RCV004555863
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 amyloid nephropathy with urticaria AND deafness Chronic infantile neurological, cutaneous and articular syndrome Keratitis fugax hereditaria Familial cold autoinflammatory syndrome 1 Hearing loss, autosomal dominant 34, with or without inflammation	Criteria Provided Conflicting Classifications	CA1494913	rs_150396172	4 SubmittersRCV000520553 RCV001211981 RCV002481693
NM_001243133.2(NLRP3):c.1639A>T (p.Ser547Cys)	SNV Germline	Chr1:247425088	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 not specified Cryopyrin associated periodic syndrome Hearing loss, autosomal dominant 34, with or without inflammation Hearing loss, autosomal dominant 34, with or without inflammation Familial amyloid nephropathy with urticaria AND deafness Chronic infantile neurological, cutaneous and articular syndrome Keratitis fugax hereditaria Familial cold autoinflammatory syndrome 1 NLRP3-related disorder	Criteria Provided Conflicting Classifications	CA1495048	rs_139833874	9 SubmittersRCV000645590 RCV000768276 RCV000825794 RCV001088695 RCV002282291 RCV003224363 RCV004544870
NM_001243133.2(NLRP3):c.2120C>A (p.Pro707Gln)	SNV Germline	Chr1:247425569	Conflicting classifications of pathogenicity	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 Autoinflammatory syndrome Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications	CA1495114	rs_200378519	5 SubmittersRCV000707651 RCV000763848 RCV002263953 RCV002534477 RCV004723123
NM_001243133.2(NLRP3):c.2098G>A (p.Asp700Asn)	SNV Germline	Chr1:247425547	Conflicting classifications of pathogenicity	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 Keratitis fugax hereditaria Hearing loss, autosomal dominant 34, with or without inflammation Chronic infantile neurological, cutaneous and articular syndrome Familial amyloid nephropathy with urticaria AND deafness Familial cold autoinflammatory syndrome 1	Criteria Provided Conflicting Classifications	CA1495111	rs_781561828	4 SubmittersRCV000768030 RCV001592950 RCV001855717 RCV003224420
NM_001243133.2(NLRP3):c.2505C>T (p.Cys835=)	SNV Germline	Chr1:247435982	Conflicting classifications of pathogenicity	Condition: not provided Chronic infantile neurological, cutaneous and articular syndrome Familial amyloid nephropathy with urticaria AND deafness Familial cold autoinflammatory syndrome 1 Cryopyrin associated periodic syndrome	Criteria Provided Conflicting Classifications	CA424422453	rs_1351993448	3 SubmittersRCV000877160 RCV001098566 RCV001098567 RCV001100328 RCV001504103
NM_001243133.2(NLRP3):c.2571A>G (p.Arg857=)	SNV Germline	Chr1:247436048	Conflicting classifications of pathogenicity	Cryopyrin associated periodic syndrome Hearing loss, autosomal dominant 34, with or without inflammation Chronic infantile neurological, cutaneous and articular syndrome Keratitis fugax hereditaria Familial amyloid nephropathy with urticaria AND deafness Familial cold autoinflammatory syndrome 1	Criteria Provided Conflicting Classifications	CA424422771	rs_1248156475	2 SubmittersRCV001444839 RCV005029543
NM_001243133.2(NLRP3):c.3048A>C (p.Leu1016Phe)	SNV Germline	Chr1:247448447	Conflicting classifications of pathogenicity	Cryopyrin associated periodic syndrome Familial amyloid nephropathy with urticaria AND deafness Familial cold autoinflammatory syndrome 1 Chronic infantile neurological, cutaneous and articular syndrome Condition: not provided Familial amyloid nephropathy with urticaria AND deafness Hearing loss, autosomal dominant 34, with or without inflammation Familial cold autoinflammatory syndrome 1 Keratitis fugax hereditaria Chronic infantile neurological, cutaneous and articular syndrome not specified NLRP3-related disorder	Criteria Provided Conflicting Classifications	CA1495435	rs_143548979	6 SubmittersRCV000883290 RCV001280995 RCV001664527 RCV003224485 RCV005408046 RCV004541787
NM_001243133.2(NLRP3):c.122G>A (p.Arg41Lys)	SNV Germline	Chr1:247418922	Conflicting classifications of pathogenicity	Chronic infantile neurological, cutaneous and articular syndrome Familial cold autoinflammatory syndrome 1 Familial amyloid nephropathy with urticaria AND deafness Keratitis fugax hereditaria Chronic infantile neurological, cutaneous and articular syndrome Familial cold autoinflammatory syndrome 1 Hearing loss, autosomal dominant 34, with or without inflammation Familial amyloid nephropathy with urticaria AND deafness Cryopyrin associated periodic syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA1494749	rs_201384608	4 SubmittersRCV001099837 RCV001101830 RCV001101829 RCV002482177 RCV003594092 RCV006372088
NM_001243133.2(NLRP3):c.476G>T (p.Ser159Ile)	SNV Germline	Chr1:247423925	Conflicting classifications of pathogenicity	Familial amyloid nephropathy with urticaria AND deafness Chronic infantile neurological, cutaneous and articular syndrome Familial cold autoinflammatory syndrome 1 Cryopyrin associated periodic syndrome NLRP3-related disorder	Criteria Provided Conflicting Classifications	CA1494878	rs_374170024	3 SubmittersRCV001101930 RCV001101932 RCV001101931 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	CA40692234	rs_895366086	2 SubmittersRCV001098453 RCV001098455 RCV001098454 RCV002069660
NM_001243133.2(NLRP3):c.564C>A (p.Ile188=)	SNV Germline	Chr1:247424013	Conflicting classifications of pathogenicity	Cryopyrin associated periodic syndrome Keratitis fugax hereditaria Hearing loss, autosomal dominant 34, with or without inflammation Chronic infantile neurological, cutaneous and articular syndrome Familial amyloid nephropathy with urticaria AND deafness Familial cold autoinflammatory syndrome 1	Criteria Provided Conflicting Classifications	CA1494895	rs_147631017	2 SubmittersRCV001224671 RCV002484217
NM_001243133.2(NLRP3):c.2686T>C (p.Ser896Pro)	SNV Germline	Chr1:247443994	Conflicting classifications of pathogenicity	Cryopyrin associated periodic syndrome Condition: not provided Familial amyloid nephropathy with urticaria AND deafness Hearing loss, autosomal dominant 34, with or without inflammation Chronic infantile neurological, cutaneous and articular syndrome Keratitis fugax hereditaria Familial cold autoinflammatory syndrome 1	Criteria Provided Conflicting Classifications	CA1495337	rs_151205016	4 SubmittersRCV001216824 RCV001587236 RCV002491671
NM_001243133.2(NLRP3):c.2982G>C (p.Gln994His)	SNV Germline	Chr1:247444798	Conflicting classifications of pathogenicity	Cryopyrin associated periodic syndrome Condition: not provided Familial amyloid nephropathy with urticaria AND deafness Keratitis fugax hereditaria Familial cold autoinflammatory syndrome 1 Hearing loss, autosomal dominant 34, with or without inflammation Chronic infantile neurological, cutaneous and articular syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA1495407	rs_148150585	4 SubmittersRCV001217592 RCV001571692 RCV002491676 RCV004960561
NM_001243133.2(NLRP3):c.1090C>A (p.Arg364=)	SNV Germline	Chr1:247424539	Conflicting classifications of pathogenicity	Cryopyrin associated periodic syndrome Keratitis fugax hereditaria Hearing loss, autosomal dominant 34, with or without inflammation Chronic infantile neurological, cutaneous and articular syndrome Familial amyloid nephropathy with urticaria AND deafness Familial cold autoinflammatory syndrome 1	Criteria Provided Conflicting Classifications	CA40691422	rs_994458759	2 SubmittersRCV001226283 RCV002484230
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 Familial cold autoinflammatory syndrome 1 Hearing loss, autosomal dominant 34, with or without inflammation Keratitis fugax hereditaria Chronic infantile neurological, cutaneous and articular syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA1495020	rs_191754224	3 SubmittersRCV001367241 RCV002476676 RCV006275091
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 Familial amyloid nephropathy with urticaria AND deafness Hearing loss, autosomal dominant 34, with or without inflammation Chronic infantile neurological, cutaneous and articular syndrome Cryopyrin associated periodic syndrome NLRP3-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA345562272	rs_2103174031	5 SubmittersRCV001547811 RCV002495875 RCV003594137 RCV004541995
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 Familial cold autoinflammatory syndrome 1 Chronic infantile neurological, cutaneous and articular syndrome Familial amyloid nephropathy with urticaria AND deafness Keratitis fugax hereditaria Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA1495164	rs_770791406	4 SubmittersRCV001985457 RCV002260715 RCV002484754 RCV004955964
NM_001243133.2(NLRP3):c.1650G>A (p.Lys550=)	SNV Germline	Chr1:247425099	Conflicting classifications of pathogenicity	Cryopyrin associated periodic syndrome Chronic infantile neurological, cutaneous and articular syndrome Familial amyloid nephropathy with urticaria AND deafness Familial cold autoinflammatory syndrome 1 Hearing loss, autosomal dominant 34, with or without inflammation Keratitis fugax hereditaria not specified	Criteria Provided Conflicting Classifications	CA1495053	rs_748768461	3 SubmittersRCV002180039 RCV005025685 RCV006453870
NM_001243133.2(NLRP3):c.1712T>G (p.Leu571Trp)	SNV Germline	Chr1:247425161	Likely pathogenic	Familial amyloid nephropathy with urticaria AND deafness	No Assertion Criteria Provided	CA345557645	rs_2527274077	1 SubmittersRCV003328143
NM_001243133.2(NLRP3):c.2769A>T (p.Gly923=)	SNV Germline	Chr1:247444077	Conflicting classifications of pathogenicity	Familial amyloid nephropathy with urticaria AND deafness Chronic infantile neurological, cutaneous and articular syndrome Familial cold autoinflammatory syndrome 1 Keratitis fugax hereditaria Hearing loss, autosomal dominant 34, with or without inflammation Cryopyrin associated periodic syndrome	Criteria Provided Conflicting Classifications			2 SubmittersRCV005026333 RCV005112697

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

Criteria Provided
Multiple Submitters
No Conflicts

CA280958

rs_121908146

12 SubmittersRCV000004618 RCV000214900 RCV000701554 RCV002476928 RCV002262553

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

Criteria Provided
Conflicting Classifications

CA280962

rs_121908147

18 SubmittersRCV000004619 RCV000224634 RCV000248492 RCV000509555 RCV001082121 RCV002293975 RCV002262554 RCV000791008 RCV003224088 RCV004528070 RCV005256547

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
Cryopyrin associated periodic syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA116780

rs_121908149

4 SubmittersRCV000004621 RCV000084171 RCV001225906 RCV001091235

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

10 SubmittersRCV000004622 RCV000004623 RCV000221297 RCV001067187 RCV002262556

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

SNV
Germline

Chr1:247425154

Likely pathogenic

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

Criteria Provided
Single Submitter

CA116788

rs_121908151

3 SubmittersRCV000004624 RCV000084204

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

SNV
Germline

Chr1:247424356

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA116796

rs_121908153

8 SubmittersRCV000004627 RCV000004626 RCV000084240 RCV000214348 RCV000527671

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

Criteria Provided
Multiple Submitters
No Conflicts

CA280970

rs_28937896

8 SubmittersRCV000004629 RCV000219571 RCV001000586 RCV000795773 RCV000762894 RCV005406723

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
Familial amyloid nephropathy with urticaria AND deafness
Chronic infantile neurological, cutaneous and articular syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA281117

rs_151344629

10 SubmittersRCV000084167 RCV000214584 RCV000449533 RCV000540218 RCV002262687 RCV002464107

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

Criteria Provided
Conflicting Classifications

CA281217

rs_145268073

13 SubmittersRCV000084193 RCV000223458 RCV001085335 RCV001375155 RCV002262693 RCV004739345 RCV005016374 RCV005406815

NM_001243133.2(NLRP3):c.1985T>C (p.Met662Thr)

SNV
Germline

Chr1:247425434

Likely pathogenic

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

Criteria Provided
Single Submitter

CA281290

rs_180177435

2 SubmittersRCV000084214 RCV004720235

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

SNV
Germline

Chr1:247436053

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA281318

rs_180177452

4 SubmittersRCV000084221 RCV000216746 RCV004720236 RCV003389316

NM_001243133.2(NLRP3):c.587G>A (p.Ser196Asn)

SNV
Germline

Chr1:247424036

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA281335

rs_180177459

4 SubmittersRCV000084226 RCV000365471 RCV000308464 RCV001465871 RCV003229808

NM_001243133.2(NLRP3):c.931G>A (p.Glu311Lys)

SNV
Germline

Chr1:247424380

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA281423

rs_180177470

5 SubmittersRCV000084250 RCV001312141 RCV002464108 RCV003593910 RCV005016377

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

Criteria Provided
Conflicting Classifications

CA281431

rs_180177501

13 SubmittersRCV000084252 RCV000521236 RCV000525710 RCV000825406 RCV001102016 RCV001100031 RCV002262699 RCV002513894 RCV005016378

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

Criteria Provided
Conflicting Classifications

CA281435

rs_180177462

6 SubmittersRCV000084253 RCV000213159 RCV000344447 RCV000378566 RCV001195579 RCV001226114 RCV002262700 RCV002294026

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

SNV
Germline

Chr1:247425033

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA292567

rs_201644343

4 SubmittersRCV000127222 RCV000325594 RCV000364278 RCV000268161 RCV002262736 RCV002515913

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

SNV
Germline

Chr1:247425567

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

Criteria Provided
Conflicting Classifications

CA292573

rs_149493236

5 SubmittersRCV000127224 RCV000361891 RCV000307210 RCV000396527 RCV000877580 RCV001312143 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
Chronic infantile neurological, cutaneous and articular syndrome
Familial cold autoinflammatory syndrome 1
Hearing loss, autosomal dominant 34, with or without inflammation
Familial amyloid nephropathy with urticaria AND deafness
Keratitis fugax hereditaria
Cleft palate

Criteria Provided
Conflicting Classifications

CA1494868

rs_138946894

11 SubmittersRCV000219739 RCV001067333 RCV001195580 RCV002262813 RCV002288904 RCV002516185 RCV005016607 RCV005623319

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

13 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
Cryopyrin associated periodic syndrome
Chronic infantile neurological, cutaneous and articular syndrome
Familial cold autoinflammatory syndrome 1

Criteria Provided
Conflicting Classifications

CA1495237

rs_141389711

3 SubmittersRCV000218819 RCV001098562 RCV001087354 RCV001098560 RCV001098561

NM_001243133.2(NLRP3):c.2611G>A (p.Ala871Thr)

SNV
Germline

Chr1:247436088

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA1495309

rs_201867582

3 SubmittersRCV000217829 RCV000698307 RCV005025366

NM_001243133.2(NLRP3):c.2738C>T (p.Thr913Met)

SNV
Germline

Chr1:247444046

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA1495347

rs_765925466

4 SubmittersRCV000221423 RCV001854729 RCV005016608

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

Criteria Provided
Conflicting Classifications

CA1495350

rs_200089542

6 SubmittersRCV000220153 RCV000298441 RCV000394837 RCV000337870 RCV000813164 RCV006456860

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
Familial amyloid nephropathy with urticaria AND deafness
Condition: not provided
Cryopyrin associated periodic syndrome
Focal segmental glomerulosclerosis
Autoinflammatory syndrome
Acute myeloid leukemia
Hepatocellular carcinoma
Cervical cancer
Uterine corpus endometrial carcinoma
Malignant lymphoma, large B-cell, diffuse
Colon adenocarcinoma
Thymoma
Colorectal cancer
Melanoma

Criteria Provided
Conflicting Classifications

CA1495112

rs_35829419

19 SubmittersRCV000246002 RCV000282807 RCV000340224 RCV000394881 RCV000416176 RCV000531876 RCV002294151 RCV002262891 RCV005892767 RCV005892768 RCV005892769 RCV005892774 RCV005892770 RCV005892766 RCV005892772 RCV005892771 RCV005892773

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
Autoinflammatory syndrome
NLRP3-related disorder
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1495236

rs_147154764

8 SubmittersRCV000286815 RCV000345238 RCV000402598 RCV000892571 RCV002262945 RCV004543173 RCV005431603 RCV001597041

NM_001243133.2(NLRP3):c.-122T>C

SNV
Germline

Chr1:247418679

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA10610773

rs_202234129

3 SubmittersRCV000262849 RCV000318127 RCV000352923 RCV002510839

NM_001243133.2(NLRP3):c.28A>C (p.Arg10=)

SNV
Germline

Chr1:247418828

Conflicting classifications of pathogenicity

Familial cold autoinflammatory syndrome 1
Chronic infantile neurological, cutaneous and articular syndrome
Familial amyloid nephropathy with urticaria AND deafness
Cryopyrin associated periodic syndrome

Criteria Provided
Conflicting Classifications

CA10610852

rs_1057515531

2 SubmittersRCV000295170 RCV000352212 RCV000396934 RCV005055849

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.203T>C (p.Met68Thr)

SNV
Germline

Chr1:247419003

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA1494761

rs_147559626

6 SubmittersRCV000302044 RCV000359131 RCV000401166 RCV001484202 RCV004537664 RCV005407033 RCV002502179 RCV004791393

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

Criteria Provided
Conflicting Classifications

CA1495015

rs_199696688

7 SubmittersRCV000314760 RCV000349546 RCV000401914 RCV001195578 RCV001569340 RCV001850556 RCV005016694

NM_001243133.2(NLRP3):c.1625C>T (p.Thr542Met)

SNV
Germline

Chr1:247425074

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA1495043

rs_199856287

4 SubmittersRCV000485294 RCV001339255 RCV002489142 RCV004555863

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

Criteria Provided
Conflicting Classifications

CA1494913

rs_150396172

4 SubmittersRCV000520553 RCV001211981 RCV002481693

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

SNV
Germline

Chr1:247425088

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

Criteria Provided
Conflicting Classifications

CA1495048

rs_139833874

9 SubmittersRCV000645590 RCV000768276 RCV000825794 RCV001088695 RCV002282291 RCV003224363 RCV004544870

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

SNV
Germline

Chr1:247425569

Conflicting classifications of pathogenicity

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
Autoinflammatory syndrome
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1495114

rs_200378519

5 SubmittersRCV000707651 RCV000763848 RCV002263953 RCV002534477 RCV004723123

NM_001243133.2(NLRP3):c.2098G>A (p.Asp700Asn)

SNV
Germline

Chr1:247425547

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA1495111

rs_781561828

4 SubmittersRCV000768030 RCV001592950 RCV001855717 RCV003224420

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

SNV
Germline

Chr1:247435982

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA424422453

rs_1351993448

3 SubmittersRCV000877160 RCV001098566 RCV001098567 RCV001100328 RCV001504103

NM_001243133.2(NLRP3):c.2571A>G (p.Arg857=)

SNV
Germline

Chr1:247436048

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA424422771

rs_1248156475

2 SubmittersRCV001444839 RCV005029543

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

SNV
Germline

Chr1:247448447

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA1495435

rs_143548979

6 SubmittersRCV000883290 RCV001280995 RCV001664527 RCV003224485 RCV005408046 RCV004541787

NM_001243133.2(NLRP3):c.122G>A (p.Arg41Lys)

SNV
Germline

Chr1:247418922

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA1494749

rs_201384608

4 SubmittersRCV001099837 RCV001101830 RCV001101829 RCV002482177 RCV003594092 RCV006372088

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

SNV
Germline

Chr1:247423925

Conflicting classifications of pathogenicity

Familial amyloid nephropathy with urticaria AND deafness
Chronic infantile neurological, cutaneous and articular syndrome
Familial cold autoinflammatory syndrome 1
Cryopyrin associated periodic syndrome
NLRP3-related disorder

Criteria Provided
Conflicting Classifications

CA1494878

rs_374170024

3 SubmittersRCV001101930 RCV001101932 RCV001101931 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

CA40692234

rs_895366086

2 SubmittersRCV001098453 RCV001098455 RCV001098454 RCV002069660

NM_001243133.2(NLRP3):c.564C>A (p.Ile188=)

SNV
Germline

Chr1:247424013

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA1494895

rs_147631017

2 SubmittersRCV001224671 RCV002484217

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

SNV
Germline

Chr1:247443994

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA1495337

rs_151205016

4 SubmittersRCV001216824 RCV001587236 RCV002491671

NM_001243133.2(NLRP3):c.2982G>C (p.Gln994His)

SNV
Germline

Chr1:247444798

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA1495407

rs_148150585

4 SubmittersRCV001217592 RCV001571692 RCV002491676 RCV004960561

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

SNV
Germline

Chr1:247424539

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA40691422

rs_994458759

2 SubmittersRCV001226283 RCV002484230

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

Criteria Provided
Conflicting Classifications

CA1495020

rs_191754224

3 SubmittersRCV001367241 RCV002476676 RCV006275091

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

Criteria Provided
Multiple Submitters
No Conflicts

CA345562272

rs_2103174031

5 SubmittersRCV001547811 RCV002495875 RCV003594137 RCV004541995

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
Familial cold autoinflammatory syndrome 1
Chronic infantile neurological, cutaneous and articular syndrome
Familial amyloid nephropathy with urticaria AND deafness
Keratitis fugax hereditaria
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1495164

rs_770791406

4 SubmittersRCV001985457 RCV002260715 RCV002484754 RCV004955964

NM_001243133.2(NLRP3):c.1650G>A (p.Lys550=)

SNV
Germline

Chr1:247425099

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA1495053

rs_748768461

3 SubmittersRCV002180039 RCV005025685 RCV006453870

NM_001243133.2(NLRP3):c.1712T>G (p.Leu571Trp)

SNV
Germline

Chr1:247425161

Likely pathogenic

Familial amyloid nephropathy with urticaria AND deafness

No Assertion Criteria Provided

CA345557645

rs_2527274077

1 SubmittersRCV003328143

NM_001243133.2(NLRP3):c.2769A>T (p.Gly923=)

SNV
Germline

Chr1:247444077

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005026333 RCV005112697