"Fulgent Genetics, Fulgent Genetics"[submitter] AND "ATRIP"[gene] - ClinVar - NCBI

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Items: 9

	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)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 522920	NM_033629.6(TREX1):c.218C>T (p.Pro73Leu)	ATRIP, ATRIP-TREX1 +1 more (P73L +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 839889	NM_033629.6(TREX1):c.236_243dup (p.Ser82fs)	TREX1, ATRIP +1 more (S82fs +1 more)	Microsatellite (frameshift variant +2 more)	Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations +4 more	GPathogenic/Likely pathogenic
Select item 647120	NM_033629.6(TREX1):c.250A>G (p.Ile84Val)	ATRIP, ATRIP-TREX1 +1 more (I84V +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Aicardi-Goutieres syndrome 1 +3 more	GUncertain significance
Select item 209198	NM_033629.6(TREX1):c.340C>T (p.Arg114Cys)	TREX1, ATRIP +1 more (R114C +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Aicardi-Goutieres syndrome 1 +4 more	GConflicting classifications of pathogenicity
Select item 570429	NM_033629.6(TREX1):c.623G>C (p.Cys208Ser)	ATRIP-TREX1, ATRIP +1 more (C208S +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided +5 more	GUncertain significance
Select item 960475	NM_033629.6(TREX1):c.633A>C (p.Arg211Ser)	TREX1, ATRIP +1 more (R211S +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Aicardi-Goutieres syndrome 1 +3 more	GUncertain significance
Select item 126393	NM_033629.6(TREX1):c.868_885del (p.Pro290_Ala295del)	ATRIP, ATRIP-TREX1 +1 more	Deletion (non-coding transcript variant +2 more)	Aicardi-Goutieres syndrome 1 +5 more	GPathogenic/Likely pathogenic
Select item 374471	NM_033629.6(TREX1):c.923C>G (p.Ser308Cys)	ATRIP, ATRIP-TREX1 +1 more (S308C +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations +4 more	GUncertain significance