"Laboratory for Molecular Medicine, Mass General Brigham Personalized - ClinVar - NCBI

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Items: 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 4179	NM_033629.6(TREX1):c.341G>A (p.Arg114His)	ATRIP, ATRIP-TREX1 +1 more (R114H +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations +5 more	GConflicting classifications of pathogenicity
Select item 96241	NM_130384.3(ATRIP):c.*1632=	ATRIP, ATRIP-TREX1 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations +5 more	GBenign