Total 29 pathogenic variants reported for Autoinflammatory syndrome, familial, Behcet-like 1 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_001270508.2(TNFAIP3):c.374C>T (p.Ala125Val) SNV
Germline		 Chr6:137874923 Conflicting classifications of pathogenicity not specified
Condition: not provided
Autoinflammatory syndrome, familial, Behcet-like 1
Uterine corpus endometrial carcinoma		 Criteria Provided
Conflicting Classifications
 CA162411 rs_5029941

6 SubmittersRCV000122147RCV000963875RCV005229927RCV005890466
NM_001270508.2(TNFAIP3):c.839G>A (p.Arg280Gln) SNV
Germline		 Chr6:137877109 Conflicting classifications of pathogenicity not specified
Condition: not provided
Autoinflammatory syndrome, familial, Behcet-like 1		 Criteria Provided
Conflicting Classifications
 CA162421 rs_200840068

4 SubmittersRCV000122152RCV001854675RCV002498580
NM_001270508.2(TNFAIP3):c.1939A>C (p.Thr647Pro) SNV
Germline		 Chr6:137880103 Conflicting classifications of pathogenicity not specified
Condition: not provided
Autoinflammatory syndrome, familial, Behcet-like
Autoinflammatory syndrome, familial, Behcet-like 1		 Criteria Provided
Conflicting Classifications
 CA162437 rs_142253225

10 SubmittersRCV000122160RCV000894759RCV001269328RCV005229928
NM_001270508.2(TNFAIP3):c.2231G>A (p.Gly744Asp) SNV
Germline		 Chr6:137881177 Conflicting classifications of pathogenicity not specified
Condition: not provided
Autoinflammatory syndrome, familial, Behcet-like 1
TNFAIP3-related disorder		 Criteria Provided
Conflicting Classifications
 CA162443 rs_150355046

9 SubmittersRCV000122163RCV001391760RCV003761750RCV003965029
NM_001270508.2(TNFAIP3):c.680T>A (p.Leu227Ter) SNV
Germline		 Chr6:137876041 Pathogenic Autoinflammatory syndrome, familial, Behcet-like 1 No Assertion Criteria Provided
 CA279928 rs_864321625

1 SubmittersRCV002508765
NM_001270508.2(TNFAIP3):c.811C>T (p.Arg271Ter) SNV
Germline		 Chr6:137877081 Pathogenic Condition: not provided
Autoinflammatory syndrome, familial, Behcet-like 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA279910 rs_864321626

3 SubmittersRCV000579071RCV002508767
NM_001270508.2(TNFAIP3):c.918C>G (p.Tyr306Ter) SNV
Germline		 Chr6:137877188 Pathogenic Autoinflammatory syndrome, familial, Behcet-like 1 No Assertion Criteria Provided
 CA347930 rs_864321684

1 SubmittersRCV002508769
NM_001270508.2(TNFAIP3):c.1809G>T (p.Gly603=) SNV
Germline		 Chr6:137879254 Conflicting classifications of pathogenicity Condition: not provided
Autoinflammatory syndrome, familial, Behcet-like 1		 Criteria Provided
Conflicting Classifications
 CA4019714 rs_201052251

3 SubmittersRCV002069534RCV003763933
NM_001270508.2(TNFAIP3):c.2364G>A (p.Met788Ile) SNV
Germline		 Chr6:137881310 Conflicting classifications of pathogenicity Condition: not provided
Autoinflammatory syndrome, familial, Behcet-like 1
TNFAIP3-related disorder
not specified		 Criteria Provided
Conflicting Classifications
 CA4019849 rs_143002189

6 SubmittersRCV001417505RCV003761258RCV003953768RCV005408896
NM_001270508.2(TNFAIP3):c.547C>T (p.Arg183Ter) SNV
Germline		 Chr6:137875748 Pathogenic Condition: not provided
Autoinflammatory syndrome, familial, Behcet-like 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA365783320 rs_1423560438

2 SubmittersRCV001948310RCV003229628
NM_001270508.2(TNFAIP3):c.2282G>A (p.Arg761His) SNV
Germline		 Chr6:137881228 Conflicting classifications of pathogenicity Condition: not provided
Autoinflammatory syndrome, familial, Behcet-like 1		 Criteria Provided
Conflicting Classifications
 CA4019837 rs_368859219

2 SubmittersRCV001938838RCV005397163
NM_001270508.2(TNFAIP3):c.1428G>A (p.Met476Ile) SNV
Germline		 Chr6:137878873 Pathogenic Autoinflammatory syndrome, familial, Behcet-like 1 No Assertion Criteria Provided
 CA365790498 rs_2114500822

1 SubmittersRCV002508823
NM_001270508.2(TNFAIP3):c.738C>G (p.Tyr246Ter) SNV
Germline		 Chr6:137876099 Likely pathogenic Autoinflammatory syndrome, familial, Behcet-like 1 Criteria Provided
Single Submitter
 CA365784360 rs_752539001

1 SubmittersRCV002283900
NM_001270508.2(TNFAIP3):c.1694C>G (p.Ser565Ter) SNV
Germline		 Chr6:137879139 Pathogenic Autoinflammatory syndrome, familial, Behcet-like 1 Criteria Provided
Single Submitter
 CA365793287 rs_370705859

1 SubmittersRCV002306235
NM_001270508.2(TNFAIP3):c.1096G>T (p.Glu366Ter) SNV
Germline		 Chr6:137878541 Pathogenic/Likely pathogenic Autoinflammatory syndrome, familial, Behcet-like 1
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA365788561 rs_2482750192

2 SubmittersRCV003224748RCV005102413
NM_001270508.2(TNFAIP3):c.425G>A (p.Trp142Ter) SNV
Germline		 Chr6:137874974 Likely pathogenic Autoinflammatory syndrome, familial, Behcet-like 1 Criteria Provided
Single Submitter
 CA365782264 rs_2482727350

1 SubmittersRCV003325259
NM_001270508.2(TNFAIP3):c.1777C>T (p.Gln593Ter) SNV
Germline/somatic		 Chr6:137879222 Pathogenic Neoplasm
Autoinflammatory syndrome, familial, Behcet-like 1		 Criteria Provided
Single Submitter

2 SubmittersRCV004666479RCV005871531
NM_001270508.2(TNFAIP3):c.259C>T (p.Arg87Ter) SNV
Germline		 Chr6:137871486 Pathogenic Autoinflammatory syndrome, familial, Behcet-like 1
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts

3 SubmittersRCV005254998RCV005199971
NM_001270508.2(TNFAIP3):c.635-2A>C SNV
Germline		 Chr6:137875994 Likely pathogenic Autoinflammatory syndrome, familial, Behcet-like 1 Criteria Provided
Single Submitter

1 SubmittersRCV005415535