Total 9 pathogenic variants reported for Behcet disease

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.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 SubmittersRCV000219058 RCV000495530 RCV001068583
NM_022162.2(NOD2):c.2446G>A	SNV Germline	Chr16:50712357	Pathogenic	Behcet disease	No Assertion Criteria Provided	CA10590109	rs_886040969	1 SubmittersRCV000258046
NM_001065.3(TNFRSF1A):c.463C>T (p.His155Tyr)	SNV Germline	Chr12:6333376	Pathogenic	Behcet disease	No Assertion Criteria Provided	CA10590110	rs_886039866	1 SubmittersRCV000258049
NM_022162.2(NOD2):c.2197G>T (p.Val733Leu)	SNV Germline	Chr16:50712108	Pathogenic	Behcet disease	No Assertion Criteria Provided	CA10590111	rs_746055479	1 SubmittersRCV000258056
NM_001370466.1(NOD2):c.964C>T (p.Leu322Phe)	SNV Germline	Chr16:50710956	Pathogenic	Behcet disease	No Assertion Criteria Provided	CA10602671	rs_752615209	1 SubmittersRCV000258859
NM_003978.5(PSTPIP1):c.865G>C (p.Asp289His)	SNV Germline	Chr15:77032888	Pathogenic	Behcet disease	No Assertion Criteria Provided	CA10603744	rs_774164456	1 SubmittersRCV000274704
NM_000243.3(MEFV):c.1099C>G (p.Leu367Val)	SNV Germline	Chr16:3249592	Conflicting classifications of pathogenicity	Behcet disease Familial Mediterranean fever Condition: not provided not specified Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis Acute febrile neutrophilic dermatosis Familial Mediterranean fever, autosomal dominant	Criteria Provided Conflicting Classifications	CA16044017	rs_1057519328	6 SubmittersRCV000416346 RCV002521488 RCV003133255 RCV001805036 RCV002480275 RCV003126719 RCV003126718
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) Autoinflammatory syndrome not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA6405322	rs_200900510	8 SubmittersRCV000458191 RCV000537537 RCV002263679 RCV003317207 RCV001703505
NM_000243.3(MEFV):c.332G>A (p.Gly111Glu)	SNV Germline	Chr16:3254736	Pathogenic	Behcet disease	No Assertion Criteria Provided	CA7860454	rs_751454741	1 SubmittersRCV000495851