Total 10 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_001282225.2(ADA2):c.927G>A (p.Met309Ile)	SNV Germline	Chr22:17189987	Conflicting classifications of pathogenicity	Behcet disease Vasculitis due to ADA2 deficiency Condition: not provided Autoinflammatory syndrome not specified ADA2-related disorder	Criteria Provided Conflicting Classifications	CA10088046	rs_146597836	10 SubmittersRCV000416296 RCV001083464 RCV000788291 RCV002263671 RCV003151053 RCV003970099
NM_000243.3(MEFV):c.1099C>G (p.Leu367Val)	SNV Germline	Chr16:3249592	Conflicting classifications of pathogenicity	Behcet disease not specified Acute febrile neutrophilic dermatosis Familial Mediterranean fever, autosomal dominant Familial Mediterranean fever Familial Mediterranean fever Acute febrile neutrophilic dermatosis Condition: not provided Familial Mediterranean fever, autosomal dominant	Criteria Provided Conflicting Classifications	CA16044017	rs_1057519328	6 SubmittersRCV000416346 RCV001805036 RCV002480275 RCV002521488 RCV003126719 RCV003133255 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) Condition: not provided Autoinflammatory syndrome not specified	Criteria Provided Conflicting Classifications	CA6405322	rs_200900510	8 SubmittersRCV000458191 RCV000537537 RCV001703505 RCV002263679 RCV003317207
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