"ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 660764	NM_001282225.2(ADA2):c.1442+6T>C	ADA2	Single nucleotide variant (intron variant)	Vasculitis due to ADA2 deficiency +1 more	GUncertain significance
Select item 994281	NM_001282225.2(ADA2):c.1082-42_1082-16del	ADA2	Microsatellite (intron variant)	not provided +1 more	GBenign
Select item 430693	NM_001282225.2(ADA2):c.1045G>A (p.Val349Ile)	ADA2 (V307I +3 more)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 541739	NM_001282225.2(ADA2):c.660C>T (p.Tyr220=)	ADA2	Single nucleotide variant (synonymous variant)	Vasculitis due to ADA2 deficiency +2 more	GBenign/Likely benign
Select item 541743	NM_001282225.2(ADA2):c.542+7A>G	ADA2	Single nucleotide variant (intron variant)	Vasculitis due to ADA2 deficiency +1 more	GBenign/Likely benign
Select item 541731	NM_001282225.2(ADA2):c.139G>T (p.Gly47Trp)	ADA2 (G47W +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic

ClinVar