"Athena Diagnostics"[submitter] AND "TREX1"[gene] - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 586839	NM_033629.6(TREX1):c.-26-110G>A	ATRIP, ATRIP-TREX1 +1 more	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
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)	Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations +4 more	GBenign
Select item 448703	NM_033629.6(TREX1):c.219G>A (p.Pro73=)	ATRIP, ATRIP-TREX1 +1 more	Single nucleotide variant (non-coding transcript variant +2 more)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 805682	NM_033629.6(TREX1):c.226G>T (p.Ala76Ser)	ATRIP, ATRIP-TREX1 +1 more (A66S +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Aicardi-Goutieres syndrome 1 +3 more	GUncertain significance
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)	Aicardi-Goutieres syndrome 1 +4 more	GConflicting classifications of pathogenicity
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 586840	NM_033629.6(TREX1):c.679G>A (p.Gly227Ser)	TREX1, ATRIP +1 more (G227S +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Aicardi-Goutieres syndrome 1 +4 more	GUncertain significance
Select item 586841	NM_033629.6(TREX1):c.720G>C (p.Arg240Ser)	ATRIP, ATRIP-TREX1 +1 more (R240S +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Aicardi-Goutieres syndrome 1 +4 more	GConflicting classifications of pathogenicity
Select item 586842	NM_033629.6(TREX1):c.739G>C (p.Ala247Pro)	ATRIP, ATRIP-TREX1 +1 more (A247P +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Aicardi-Goutieres syndrome 1 +4 more	GUncertain significance
Select item 96242	NM_033629.6(TREX1):c.797A>G (p.Glu266Gly)	ATRIP, ATRIP-TREX1 +1 more (E266G +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided +5 more	GConflicting classifications of pathogenicity