"Clinical Genetics, Academic Medical Center"[submitter] AND "TREX1"[ge - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 345774	NM_033629.6(TREX1):c.198G>A (p.Lys66=)	ATRIP, ATRIP-TREX1 +1 more	Single nucleotide variant (non-coding transcript variant +2 more)	Chilblain lupus 1 +3 more	GBenign
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)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 719820	NM_033629.6(TREX1):c.387C>T (p.Tyr129=)	ATRIP, ATRIP-TREX1 +1 more	Single nucleotide variant (non-coding transcript variant +2 more)	Aicardi-Goutieres syndrome 1 +3 more	GLikely benign
Select item 345778	NM_033629.6(TREX1):c.462T>C (p.Asp154=)	ATRIP, ATRIP-TREX1 +1 more	Single nucleotide variant (non-coding transcript variant +2 more)	Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations +2 more	GBenign
Select item 586840	NM_033629.6(TREX1):c.679G>A (p.Gly227Ser)	ATRIP, ATRIP-TREX1 +1 more (G227S +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Aicardi-Goutieres syndrome 1 +4 more	GUncertain significance
Select item 1284562	NM_033629.6(TREX1):c.720G>A (p.Arg240=)	ATRIP, ATRIP-TREX1 +1 more	Single nucleotide variant (3 prime UTR variant +2 more)	Aicardi-Goutieres syndrome 1 +2 more	GLikely benign

ClinVar