Total 67 pathogenic variants reported for TNF receptor-associated periodic fever syndrome 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_001065.4(TNFRSF1A):c.185G>A (p.Cys62Tyr) SNV
Germline		 Chr12:6334099 Pathogenic TNF receptor-associated periodic fever syndrome (TRAPS) No Assertion Criteria Provided
 CA280145 rs_104895218

2 SubmittersRCV000013128
NM_001065.4(TNFRSF1A):c.236C>T (p.Thr79Met) SNV
Germline		 Chr12:6333823 Pathogenic TNF receptor-associated periodic fever syndrome (TRAPS)
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA280147 rs_104895219

8 SubmittersRCV000013129RCV000414218
NM_001065.4(TNFRSF1A):c.175T>C (p.Cys59Arg) SNV
Germline		 Chr12:6334109 Pathogenic TNF receptor-associated periodic fever syndrome (TRAPS)
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA280149 rs_104895217

5 SubmittersRCV000013130RCV000413303
NM_001065.4(TNFRSF1A):c.242G>T (p.Cys81Phe) SNV
Germline		 Chr12:6333817 Pathogenic TNF receptor-associated periodic fever syndrome (TRAPS)
Condition: not provided		 Criteria Provided
Single Submitter
 CA280151 rs_104895220

3 SubmittersRCV000013131RCV000286522
NM_001065.4(TNFRSF1A):c.349T>C (p.Cys117Arg) SNV
Germline		 Chr12:6333490 Pathogenic TNF receptor-associated periodic fever syndrome (TRAPS) No Assertion Criteria Provided
 CA280153 rs_104895221

2 SubmittersRCV000013132
NM_001065.4(TNFRSF1A):c.350G>A (p.Cys117Tyr) SNV
Germline		 Chr12:6333489 Pathogenic TNF receptor-associated periodic fever syndrome (TRAPS) No Assertion Criteria Provided
 CA280155 rs_104895222

2 SubmittersRCV000013133
NM_001065.4(TNFRSF1A):c.362G>C (p.Arg121Pro) SNV
Germline		 Chr12:6333477 Pathogenic TNF receptor-associated periodic fever syndrome (TRAPS) No Assertion Criteria Provided
 CA280157 rs_4149584

2 SubmittersRCV000013134
NM_001065.4(TNFRSF1A):c.176G>C (p.Cys59Ser) SNV
Germline		 Chr12:6334108 Pathogenic TNF receptor-associated periodic fever syndrome (TRAPS) Criteria Provided
Single Submitter
 CA280159 rs_104895223

3 SubmittersRCV000013135
NM_001065.4(TNFRSF1A):c.184T>G (p.Cys62Gly) SNV
Germline		 Chr12:6334100 Likely pathogenic TNF receptor-associated periodic fever syndrome (TRAPS)
Inborn genetic diseases		 Criteria Provided
Single Submitter
 CA280161 rs_104895225

3 SubmittersRCV000013136RCV000624870
NM_001065.4(TNFRSF1A):c.295T>A (p.Cys99Ser) SNV
Germline		 Chr12:6333764 Pathogenic TNF receptor-associated periodic fever syndrome (TRAPS) No Assertion Criteria Provided
 CA280163 rs_104895228

2 SubmittersRCV000013138
NM_001065.4(TNFRSF1A):c.123T>G (p.Asp41Glu) SNV
Germline		 Chr12:6334161 Conflicting classifications of pathogenicity TNF receptor-associated periodic fever syndrome (TRAPS)
Condition: not provided
Inborn genetic diseases
Autoinflammatory syndrome		 Criteria Provided
Conflicting Classifications
 CA280695 rs_104895271

17 SubmittersRCV000083896RCV000255687RCV000623098RCV002262667
NM_001065.4(TNFRSF1A):c.151C>T (p.His51Tyr) SNV
Germline		 Chr12:6334133 Pathogenic TNF receptor-associated periodic fever syndrome (TRAPS)
Condition: not provided		 No Assertion Criteria Provided
 CA280704 rs_104895227

3 SubmittersRCV000083899RCV001701502
NM_001065.4(TNFRSF1A):c.173G>T (p.Cys58Phe) SNV
Germline		 Chr12:6334111 Pathogenic TNF receptor-associated periodic fever syndrome (TRAPS) Criteria Provided
Single Submitter
 CA280718 rs_104895230

2 SubmittersRCV000083904
NM_001065.4(TNFRSF1A):c.214T>C (p.Cys72Arg) SNV
Germline		 Chr12:6333845 Likely pathogenic TNF receptor-associated periodic fever syndrome (TRAPS)
Autoinflammatory syndrome		 Criteria Provided
Single Submitter
 CA280748 rs_104895238

2 SubmittersRCV000083916RCV002262668
NM_001065.4(TNFRSF1A):c.215G>A (p.Cys72Tyr) SNV
Germline		 Chr12:6333844 Likely pathogenic TNF receptor-associated periodic fever syndrome (TRAPS) Criteria Provided
Single Submitter
 CA280751 rs_104895252

2 SubmittersRCV000083917
NM_001065.4(TNFRSF1A):c.228G>A (p.Gly76=) SNV
Germline		 Chr12:6333831 Conflicting classifications of pathogenicity TNF receptor-associated periodic fever syndrome (TRAPS) Criteria Provided
Conflicting Classifications
 CA280757 rs_104895274

3 SubmittersRCV000083919
NM_001065.4(TNFRSF1A):c.241T>C (p.Cys81Arg) SNV
Germline		 Chr12:6333818 Likely pathogenic TNF receptor-associated periodic fever syndrome (TRAPS) Criteria Provided
Single Submitter
 CA280763 rs_104895232

2 SubmittersRCV000083921
NM_001065.4(TNFRSF1A):c.249G>A (p.Glu83=) SNV
Germline		 Chr12:6333810 Conflicting classifications of pathogenicity TNF receptor-associated periodic fever syndrome (TRAPS)
Condition: not provided
Autoinflammatory syndrome
TNFRSF1A-related disorder		 Criteria Provided
Conflicting Classifications
 CA280772 rs_104895265

7 SubmittersRCV000083924RCV001310985RCV002262669RCV003905077
NM_001065.4(TNFRSF1A):c.250T>C (p.Cys84Arg) SNV
Germline		 Chr12:6333809 Likely pathogenic TNF receptor-associated periodic fever syndrome (TRAPS)
Inborn genetic diseases		 Criteria Provided
Single Submitter
 CA280775 rs_104895253

2 SubmittersRCV000083925RCV000623133
NM_001065.4(TNFRSF1A):c.251G>A (p.Cys84Tyr) SNV
Germline		 Chr12:6333808 Pathogenic/Likely pathogenic TNF receptor-associated periodic fever syndrome (TRAPS)
not specified		 Criteria Provided
Multiple Submitters
No Conflicts
 CA280778 rs_104895224

4 SubmittersRCV000083926RCV001002161
NM_001065.4(TNFRSF1A):c.265T>C (p.Phe89Leu) SNV
Germline		 Chr12:6333794 Conflicting classifications of pathogenicity TNF receptor-associated periodic fever syndrome (TRAPS)
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA280787 rs_104895245

3 SubmittersRCV000083929RCV000254771
NM_001065.4(TNFRSF1A):c.295T>C (p.Cys99Arg) SNV
Germline		 Chr12:6333764 Pathogenic/Likely pathogenic TNF receptor-associated periodic fever syndrome (TRAPS)
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA280815 rs_104895228

5 SubmittersRCV000083939RCV000214793
NM_001065.4(TNFRSF1A):c.306C>G (p.Cys102Trp) SNV
Germline		 Chr12:6333753 Pathogenic TNF receptor-associated periodic fever syndrome (TRAPS) Criteria Provided
Single Submitter
 CA280827 rs_104895249

2 SubmittersRCV000083943
NM_001065.4(TNFRSF1A):c.361C>T (p.Arg121Trp) SNV
Germline		 Chr12:6333478 Likely pathogenic TNF receptor-associated periodic fever syndrome (TRAPS) Criteria Provided
Multiple Submitters
No Conflicts
 CA280837 rs_104895276

3 SubmittersRCV000083947
NM_001065.4(TNFRSF1A):c.369C>T (p.Thr123=) SNV
Germline		 Chr12:6333470 Conflicting classifications of pathogenicity TNF receptor-associated periodic fever syndrome (TRAPS)
Autoinflammatory syndrome
Inborn genetic diseases
TNFRSF1A-related disorder
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA280840 rs_104895260

11 SubmittersRCV000083948RCV002262670RCV003258666RCV003935075RCV000872445
NM_001065.4(TNFRSF1A):c.434A>G (p.Asn145Ser) SNV
Germline		 Chr12:6333405 Conflicting classifications of pathogenicity TNF receptor-associated periodic fever syndrome (TRAPS)
Condition: not provided
Febrile seizure (within the age range of 3 months to 6 years)
Hepatosplenomegaly
Autoinflammatory syndrome		 Criteria Provided
Conflicting Classifications
 CA280864 rs_104895288

7 SubmittersRCV000083956RCV000214693RCV000626739RCV002262672
NM_001065.4(TNFRSF1A):c.472+1G>A SNV
Unknown		 Chr12:6333366 Likely pathogenic TNF receptor-associated periodic fever syndrome (TRAPS) Criteria Provided
Single Submitter
 CA280867 rs_104895287

2 SubmittersRCV000083957
NM_001065.4(TNFRSF1A):c.596T>A (p.Ile199Asn) SNV
Germline		 Chr12:6330882 Pathogenic/Likely pathogenic TNF receptor-associated periodic fever syndrome (TRAPS)
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA280877 rs_104895247

3 SubmittersRCV000083963RCV001090622
NM_001065.4(TNFRSF1A):c.645C>T (p.Pro215=) SNV
Germline		 Chr12:6330692 Conflicting classifications of pathogenicity not specified
TNF receptor-associated periodic fever syndrome (TRAPS)
TNFRSF1A-related disorder		 Criteria Provided
Conflicting Classifications
 CA291335 rs_147075345

5 SubmittersRCV000125554RCV000900584RCV003894981
NM_001065.4(TNFRSF1A):c.339G>A (p.Glu113=) SNV
Germline		 Chr12:6333500 Conflicting classifications of pathogenicity not specified
TNF receptor-associated periodic fever syndrome (TRAPS)
Autoinflammatory syndrome		 Criteria Provided
Conflicting Classifications
 CA291339 rs_587780965

3 SubmittersRCV000125557RCV002055581RCV002262724
NM_001065.4(TNFRSF1A):c.362G>A (p.Arg121Gln) SNV
Germline		 Chr12:6333477 Conflicting classifications of pathogenicity TNF receptor-associated periodic fever syndrome (TRAPS)
not specified
Condition: not provided
Multiple sclerosis, susceptibility to, 5
TNF receptor-associated periodic fever syndrome (TRAPS)
Autoinflammatory syndrome		 Criteria Provided
Conflicting Classifications
 CA280920 rs_4149584

17 SubmittersRCV000200263RCV000222279RCV000487915RCV001280954RCV002262795
NM_001065.4(TNFRSF1A):c.1058-6C>G SNV
Germline		 Chr12:6329628 Conflicting classifications of pathogenicity Condition: not provided
TNF receptor-associated periodic fever syndrome (TRAPS)
Autoinflammatory syndrome		 Criteria Provided
Conflicting Classifications
 CA6405273 rs_761155688

3 SubmittersRCV000214797RCV000705036RCV002262829
NM_001065.4(TNFRSF1A):c.596T>C (p.Ile199Thr) SNV
Germline		 Chr12:6330882 Conflicting classifications of pathogenicity Condition: not provided
Behcet disease
TNF receptor-associated periodic fever syndrome (TRAPS)		 Criteria Provided
Conflicting Classifications
 CA6405458 rs_104895247

4 SubmittersRCV000219058RCV000495530RCV001068583
NM_001065.4(TNFRSF1A):c.282C>G (p.Asn94Lys) SNV
Germline		 Chr12:6333777 Conflicting classifications of pathogenicity Condition: not provided
TNF receptor-associated periodic fever syndrome (TRAPS)		 Criteria Provided
Conflicting Classifications
 CA10577455 rs_876661014

2 SubmittersRCV000218061RCV000699281
NM_001065.4(TNFRSF1A):c.224C>T (p.Pro75Leu) SNV
Germline		 Chr12:6333835 Conflicting classifications of pathogenicity TNF receptor-associated periodic fever syndrome (TRAPS)
Condition: not provided
Autoinflammatory syndrome		 Criteria Provided
Conflicting Classifications
 CA6405585 rs_4149637

6 SubmittersRCV000534430RCV001705299RCV002262855
NM_001065.4(TNFRSF1A):c.1058-8C>G SNV
Germline		 Chr12:6329630 Conflicting classifications of pathogenicity TNF receptor-associated periodic fever syndrome (TRAPS) Criteria Provided
Conflicting Classifications
 CA10638270 rs_764636915

2 SubmittersRCV000287301
NM_001065.4(TNFRSF1A):c.1206C>T (p.Ser402=) SNV
Germline		 Chr12:6329474 Conflicting classifications of pathogenicity TNF receptor-associated periodic fever syndrome (TRAPS)
Condition: not provided
Autoinflammatory syndrome		 Criteria Provided
Conflicting Classifications
 CA6405243 rs_148334665

5 SubmittersRCV000972027RCV001675795RCV002262967
NM_001065.4(TNFRSF1A):c.753G>A (p.Ser251=) SNV
Germline		 Chr12:6330282 Conflicting classifications of pathogenicity TNF receptor-associated periodic fever syndrome (TRAPS)
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA6405375 rs_201358363

3 SubmittersRCV000373704RCV001612985
NM_001065.4(TNFRSF1A):c.1110C>T (p.Arg370=) SNV
Germline		 Chr12:6329570 Conflicting classifications of pathogenicity TNF receptor-associated periodic fever syndrome (TRAPS)
Condition: not provided
Autoinflammatory syndrome		 Criteria Provided
Conflicting Classifications
 CA6405260 rs_201683984

9 SubmittersRCV000638836RCV001683245RCV002262968
NM_001065.4(TNFRSF1A):c.472+7G>T SNV
Germline		 Chr12:6333360 Conflicting classifications of pathogenicity TNF receptor-associated periodic fever syndrome (TRAPS)
Autoinflammatory syndrome		 Criteria Provided
Conflicting Classifications
 CA6405546 rs_200194581

3 SubmittersRCV000918924RCV002262969
NM_001065.4(TNFRSF1A):c.935G>A (p.Arg312Lys) SNV
Germline		 Chr12:6329900 Conflicting classifications of pathogenicity Behcet disease
TNF receptor-associated periodic fever syndrome (TRAPS)
Condition: not provided
Autoinflammatory syndrome
not specified		 Criteria Provided
Conflicting Classifications
 CA6405322 rs_200900510

8 SubmittersRCV000458191RCV000537537RCV001703505RCV002263679RCV003317207
NM_001065.4(TNFRSF1A):c.1328G>T (p.Gly443Val) SNV
Germline		 Chr12:6329352 Conflicting classifications of pathogenicity Condition: not provided
TNF receptor-associated periodic fever syndrome (TRAPS)
not specified
Autoinflammatory syndrome		 Criteria Provided
Conflicting Classifications
 CA6405224 rs_201062001

6 SubmittersRCV000709841RCV000795391RCV001002159RCV002263726
NM_001065.4(TNFRSF1A):c.687C>A (p.Phe229Leu) SNV
Germline		 Chr12:6330650 Conflicting classifications of pathogenicity not specified
TNF receptor-associated periodic fever syndrome (TRAPS)		 Criteria Provided
Conflicting Classifications
 CA6405427 rs_766811013

2 SubmittersRCV000609663RCV001297903
NM_001065.4(TNFRSF1A):c.269C>T (p.Thr90Ile) SNV
Germline		 Chr12:6333790 Conflicting classifications of pathogenicity Condition: not provided
TNF receptor-associated periodic fever syndrome (TRAPS)		 Criteria Provided
Conflicting Classifications
 CA6405581 rs_34751757

3 SubmittersRCV000756797RCV001078480
NM_001065.4(TNFRSF1A):c.16G>A (p.Val6Met) SNV
Germline		 Chr12:6341799 Conflicting classifications of pathogenicity Condition: not provided
TNF receptor-associated periodic fever syndrome (TRAPS)		 Criteria Provided
Conflicting Classifications
 rs_772424047

2 SubmittersRCV000657858RCV001855361
NM_001065.4(TNFRSF1A):c.887G>C (p.Ser296Thr) SNV
Germline		 Chr12:6329948 Conflicting classifications of pathogenicity Condition: not provided
TNF receptor-associated periodic fever syndrome (TRAPS)
Autoinflammatory syndrome		 Criteria Provided
Conflicting Classifications
 rs_770324989

5 SubmittersRCV000658631RCV000705172RCV002263923
NM_001065.4(TNFRSF1A):c.121G>C (p.Asp41His) SNV
Germline		 Chr12:6334163 Conflicting classifications of pathogenicity Condition: not provided
TNF receptor-associated periodic fever syndrome (TRAPS)		 Criteria Provided
Conflicting Classifications
 rs_199882512

2 SubmittersRCV000658632RCV001376777
NM_001065.4(TNFRSF1A):c.305G>A (p.Cys102Tyr) SNV
Germline		 Chr12:6333754 Pathogenic/Likely pathogenic TNF receptor-associated periodic fever syndrome (TRAPS)
not specified		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1555108112

2 SubmittersRCV000693373RCV001002362
NM_001065.4(TNFRSF1A):c.452A>G (p.Asn151Ser) SNV
Germline		 Chr12:6333387 Conflicting classifications of pathogenicity TNF receptor-associated periodic fever syndrome (TRAPS)
TNFRSF1A-related disorder		 Criteria Provided
Conflicting Classifications
 rs_369875050

2 SubmittersRCV000703441RCV003420254
NM_001065.4(TNFRSF1A):c.1329C>A (p.Gly443=) SNV
Germline		 Chr12:6329351 Conflicting classifications of pathogenicity Condition: not provided
TNF receptor-associated periodic fever syndrome (TRAPS)		 Criteria Provided
Conflicting Classifications
 rs_756455040

2 SubmittersRCV000926541RCV001398428
NM_001065.4(TNFRSF1A):c.1083C>T (p.Ala361=) SNV
Germline		 Chr12:6329597 Conflicting classifications of pathogenicity TNF receptor-associated periodic fever syndrome (TRAPS)
TNFRSF1A-related disorder		 Criteria Provided
Conflicting Classifications
 rs_746923911

3 SubmittersRCV001114508RCV003983284
NM_001065.4(TNFRSF1A):c.482A>G (p.Lys161Arg) SNV
Germline		 Chr12:6333138 Conflicting classifications of pathogenicity not specified
TNF receptor-associated periodic fever syndrome (TRAPS)
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_578112440

3 SubmittersRCV001002106RCV001047147RCV001683721
NM_001065.4(TNFRSF1A):c.1008C>A (p.Asn336Lys) SNV
Germline		 Chr12:6329827 Conflicting classifications of pathogenicity TNF receptor-associated periodic fever syndrome (TRAPS)
Autoinflammatory syndrome		 Criteria Provided
Conflicting Classifications
 rs_745458338

2 SubmittersRCV001046217RCV002264154
NM_001065.4(TNFRSF1A):c.*252A>G SNV
Germline		 Chr12:6329060 Conflicting classifications of pathogenicity TNF receptor-associated periodic fever syndrome (TRAPS)
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_45563431

2 SubmittersRCV001113131RCV003311946
NM_001065.4(TNFRSF1A):c.*64T>C SNV
Germline		 Chr12:6329248 Conflicting classifications of pathogenicity TNF receptor-associated periodic fever syndrome (TRAPS)
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_200188649

2 SubmittersRCV001114507RCV001712851
NM_001065.4(TNFRSF1A):c.492C>T (p.Thr164=) SNV
Germline		 Chr12:6333128 Conflicting classifications of pathogenicity TNF receptor-associated periodic fever syndrome (TRAPS)
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_373422284

3 SubmittersRCV001111229RCV001530679
NM_001065.4(TNFRSF1A):c.-75C>T SNV
Germline		 Chr12:6341889 Conflicting classifications of pathogenicity TNF receptor-associated periodic fever syndrome (TRAPS)
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_55785527

2 SubmittersRCV001113236RCV001683735
NM_001065.4(TNFRSF1A):c.1058-4G>C SNV
Germline		 Chr12:6329626 Conflicting classifications of pathogenicity TNF receptor-associated periodic fever syndrome (TRAPS)
Autoinflammatory syndrome		 Criteria Provided
Conflicting Classifications
 rs_369451569

2 SubmittersRCV001413459RCV002264302
NM_001065.4(TNFRSF1A):c.384G>A (p.Arg128=) SNV
Germline		 Chr12:6333455 Conflicting classifications of pathogenicity TNF receptor-associated periodic fever syndrome (TRAPS)
Condition: not provided
Autoinflammatory syndrome		 Criteria Provided
Conflicting Classifications
 rs_747164054

3 SubmittersRCV001506795RCV001685370RCV002264362
NM_001065.4(TNFRSF1A):c.40-5C>G SNV
Germline		 Chr12:6334249 Conflicting classifications of pathogenicity TNF receptor-associated periodic fever syndrome (TRAPS)
TNFRSF1A-related disorder		 Criteria Provided
Conflicting Classifications
 rs_757941488

2 SubmittersRCV001884792RCV003941192
NM_001065.4(TNFRSF1A):c.172T>G (p.Cys58Gly) SNV
Germline		 Chr12:6334112 Likely pathogenic TNF receptor-associated periodic fever syndrome (TRAPS) Criteria Provided
Single Submitter
 rs_2136823066

1 SubmittersRCV002017706
NM_001065.4(TNFRSF1A):c.305G>T (p.Cys102Phe) SNV
Germline		 Chr12:6333754 Likely pathogenic TNF receptor-associated periodic fever syndrome (TRAPS) Criteria Provided
Single Submitter
 rs_1555108112

1 SubmittersRCV001994995
NM_001065.4(TNFRSF1A):c.12C>T (p.Ser4=) SNV
Germline		 Chr12:6341803 Conflicting classifications of pathogenicity TNF receptor-associated periodic fever syndrome (TRAPS)
Autoinflammatory syndrome		 Criteria Provided
Conflicting Classifications
 rs_199780452

2 SubmittersRCV002170369RCV002264453
NM_001065.4(TNFRSF1A):c.51G>A (p.Glu17=) SNV
Germline		 Chr12:6334233 Conflicting classifications of pathogenicity TNF receptor-associated periodic fever syndrome (TRAPS)
Autoinflammatory syndrome		 Criteria Provided
Conflicting Classifications
 rs_201015273

2 SubmittersRCV002082098RCV002264464
NM_001065.4(TNFRSF1A):c.784A>G (p.Thr262Ala) SNV
Germline		 Chr12:6330051 Conflicting classifications of pathogenicity TNF receptor-associated periodic fever syndrome (TRAPS)
Autoinflammatory syndrome		 Criteria Provided
Conflicting Classifications
 rs_200728879

2 SubmittersRCV002120860RCV002264465
NM_001065.4(TNFRSF1A):c.349T>G (p.Cys117Gly) SNV
Germline		 Chr12:6333490 Likely pathogenic TNF receptor-associated periodic fever syndrome (TRAPS) Criteria Provided
Single Submitter

1 SubmittersRCV002601704