"Eurofins Ntd Llc (ga)"[submitter] AND "ATRIP-TREX1"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 282766	NM_033629.6(TREX1):c.144dup (p.Thr49fs)	ATRIP, ATRIP-TREX1 +1 more (T39fs +1 more)	Duplication (frameshift variant +2 more)	Aicardi-Goutieres syndrome 1 +4 more	GPathogenic/Likely pathogenic
Select item 282767	NM_033629.6(TREX1):c.152_153del (p.Gln51fs)	ATRIP, ATRIP-TREX1 +1 more (Q41fs +1 more)	Deletion (non-coding transcript variant +2 more)	not provided	GPathogenic
Select item 593834	NM_033629.6(TREX1):c.299T>C (p.Phe100Ser)	ATRIP, ATRIP-TREX1 +1 more (F100S +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Aicardi-Goutieres syndrome 1 +4 more	GUncertain significance
Select item 126389	NM_033629.6(TREX1):c.500del (p.Ser167fs)	ATRIP, ATRIP-TREX1 +1 more (S157fs +1 more)	Deletion (non-coding transcript variant +2 more)	Aicardi-Goutieres syndrome 1 +3 more	GPathogenic
Select item 96241	NM_033629.6(TREX1):c.531= (p.Tyr177=)	TREX1, ATRIP-TREX1 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations +5 more	GBenign
Select item 96242	NM_033629.6(TREX1):c.797A>G (p.Glu266Gly)	TREX1, ATRIP +1 more (E266G +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified +5 more	GConflicting classifications of pathogenicity

ClinVar