Total 22 pathogenic variants reported for Sneddon syndrome 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_001282225.2(ADA2):c.1358A>G (p.Tyr453Cys) SNV
Germline		 Chr22:17181904 Pathogenic/Likely pathogenic Vasculitis due to ADA2 deficiency
Sneddon syndrome
Vasculitis due to ADA2 deficiency
Autoinflammatory syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA150799 rs_376785840

5 SubmittersRCV000106380RCV002477260RCV002262702
NM_001282225.2(ADA2):c.140G>C (p.Gly47Ala) SNV
Germline		 Chr22:17209538 Pathogenic Vasculitis due to ADA2 deficiency
Condition: not provided
Sneddon syndrome
Vasculitis due to ADA2 deficiency		 Criteria Provided
Multiple Submitters
No Conflicts
 CA150803 rs_200930463

8 SubmittersRCV000106382RCV001570811RCV002483175
NM_001282225.2(ADA2):c.506G>A (p.Arg169Gln) SNV
Germline		 Chr22:17207107 Pathogenic/Likely pathogenic Vasculitis due to ADA2 deficiency
Inherited Immunodeficiency Diseases
Condition: not provided
Sneddon syndrome
Vasculitis due to ADA2 deficiency
Sneddon syndrome
Autoinflammatory syndrome
ADA2-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA150808 rs_77563738

22 SubmittersRCV000106384RCV001027542RCV001091904RCV001536077RCV001808328RCV002262704RCV003945041
NM_001282225.2(ADA2):c.139G>A (p.Gly47Arg) SNV
Germline		 Chr22:17209539 Pathogenic/Likely pathogenic Vasculitis due to ADA2 deficiency
Condition: not provided
Autoinflammatory syndrome
Sneddon syndrome
Vasculitis due to ADA2 deficiency
Sneddon syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA150810 rs_202134424

14 SubmittersRCV000106385RCV001091906RCV002262705RCV002498474RCV003445509
NM_001282225.2(ADA2):c.140G>T (p.Gly47Val) SNV
Germline		 Chr22:17209538 Pathogenic/Likely pathogenic Vasculitis due to ADA2 deficiency
Condition: not provided
Sneddon syndrome
Vasculitis due to ADA2 deficiency		 Criteria Provided
Multiple Submitters
No Conflicts
 CA150814 rs_200930463

12 SubmittersRCV000106387RCV000481270RCV002505023
NM_001282225.2(ADA2):c.1078A>G (p.Thr360Ala) SNV
Germline		 Chr22:17188342 Pathogenic Sneddon syndrome
Vasculitis due to ADA2 deficiency
See cases		 Criteria Provided
Multiple Submitters
No Conflicts
 CA199242 rs_775440641

4 SubmittersRCV000169758RCV000851530RCV004584361
NM_001282225.2(ADA2):c.1147G>A (p.Gly383Ser) SNV
Germline		 Chr22:17182696 Pathogenic/Likely pathogenic Sneddon syndrome
Vasculitis due to ADA2 deficiency
Condition: not provided
Sneddon syndrome
Vasculitis due to ADA2 deficiency		 Criteria Provided
Multiple Submitters
No Conflicts
 CA199245 rs_770689762

4 SubmittersRCV000169759RCV001386673RCV002460949RCV002485053
NM_000435.3(NOTCH3):c.3296G>A (p.Cys1099Tyr) SNV
Germline		 Chr19:15180103 Pathogenic/Likely pathogenic Condition: not provided
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
Lateral meningocele syndrome
Myofibromatosis, infantile, 2
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
Lateral meningocele syndrome
Sneddon syndrome
Myofibromatosis, infantile, 2		 Criteria Provided
Multiple Submitters
No Conflicts
 CA404513034 rs_1555727841

4 SubmittersRCV000517796RCV000763035RCV002508219
NM_001282225.2(ADA2):c.973-2A>G SNV
Germline		 Chr22:17188449 Pathogenic Vasculitis due to ADA2 deficiency
Condition: not provided
Sneddon syndrome
ADA2-related disorder
Sneddon syndrome
Vasculitis due to ADA2 deficiency		 Criteria Provided
Multiple Submitters
No Conflicts
 CA10088011 rs_139750129

14 SubmittersRCV000652057RCV001091903RCV003225732RCV003411545RCV002499121
NM_001282225.2(ADA2):c.1069G>A (p.Ala357Thr) SNV
Germline		 Chr22:17188351 Conflicting classifications of pathogenicity Vasculitis due to ADA2 deficiency
ADA2-related disorder
Sneddon syndrome
Vasculitis due to ADA2 deficiency		 Criteria Provided
Conflicting Classifications
 rs_374974565

3 SubmittersRCV000706480RCV003420264RCV002485772
NM_001282225.2(ADA2):c.194C>T (p.Thr65Met) SNV
Germline		 Chr22:17209484 Conflicting classifications of pathogenicity Vasculitis due to ADA2 deficiency
Sneddon syndrome
Vasculitis due to ADA2 deficiency
Autoinflammatory syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_61747288

4 SubmittersRCV000707211RCV000765603RCV002263952RCV002263951
NM_001282225.2(ADA2):c.1110C>A (p.Asn370Lys) SNV
Germline		 Chr22:17182733 Pathogenic/Likely pathogenic Inherited Immunodeficiency Diseases
Vasculitis due to ADA2 deficiency
Vasculitis due to ADA2 deficiency
Sneddon syndrome
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1489114116

6 SubmittersRCV001027541RCV001328776RCV002497346RCV003325532
NM_001282225.2(ADA2):c.934C>T (p.Arg312Ter) SNV
Germline		 Chr22:17189980 Pathogenic Vasculitis due to ADA2 deficiency
Vasculitis due to ADA2 deficiency
Sneddon syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_368615054

2 SubmittersRCV001057009RCV002482017
NM_001282225.2(ADA2):c.1373T>A (p.Val458Asp) SNV
Germline		 Chr22:17181889 Pathogenic/Likely pathogenic Sneddon syndrome
Vasculitis due to ADA2 deficiency		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_748893301

2 SubmittersRCV001328777RCV003583195
NM_001282225.2(ADA2):c.1071C>A (p.Ala357=) SNV
Germline		 Chr22:17188349 Conflicting classifications of pathogenicity Vasculitis due to ADA2 deficiency
Sneddon syndrome
Vasculitis due to ADA2 deficiency		 Criteria Provided
Conflicting Classifications
 rs_144447953

2 SubmittersRCV001337504RCV002493735
NM_001282225.2(ADA2):c.139G>C (p.Gly47Arg) SNV
Germline		 Chr22:17209539 Pathogenic Vasculitis due to ADA2 deficiency
Vasculitis due to ADA2 deficiency
Sneddon syndrome
Autoinflammatory syndrome
Condition: not provided
ADA2-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_202134424

7 SubmittersRCV001390131RCV001535952RCV002264292RCV003334041RCV003399212
NM_001282225.2(ADA2):c.562C>G (p.Leu188Val) SNV
Germline		 Chr22:17203754 Conflicting classifications of pathogenicity Autoinflammatory syndrome
Vasculitis due to ADA2 deficiency
Sneddon syndrome
Vasculitis due to ADA2 deficiency		 Criteria Provided
Conflicting Classifications
 rs_765219776

3 SubmittersRCV002264608RCV002496197RCV003746610