"Gharavi Laboratory, Columbia University"[submitter] AND "ADA2"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 591150	NM_001282225.2(ADA2):c.1003_1004inv (p.His335Cys)	ADA2 (H215C +3 more)	Inversion (missense variant)	Vasculitis due to ADA2 deficiency	GUncertain significance
Select item 591348	NM_001282225.2(ADA2):c.393del (p.Arg131fs)	ADA2 (R11fs +2 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 591628	NM_001282225.2(ADA2):c.388T>C (p.Tyr130His)	ADA2 (Y130H +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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