"Illumina Laboratory Services, Illumina"[submitter] AND "ATRIP"[gene] - ClinVar

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Items: 34

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 345761	NM_130384.3(ATRIP):c.*267T>C	ATRIP, ATRIP-TREX1 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Aicardi Goutieres syndrome +1 more	GLikely benign
Select item 345762	NM_130384.3(ATRIP):c.*272del	ATRIP-TREX1, ATRIP +1 more	Deletion (non-coding transcript variant +1 more)	Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations +1 more	GLikely benign
Select item 345763	NM_130384.3(ATRIP):c.*495C>T	ATRIP, ATRIP-TREX1 +1 more	Single nucleotide variant (non-coding transcript variant +2 more)	Aicardi Goutieres syndrome +1 more	GUncertain significance
Select item 345764	NM_130384.3(ATRIP):c.*576G>T	ATRIP, ATRIP-TREX1 +1 more	Single nucleotide variant (non-coding transcript variant +2 more)	Aicardi Goutieres syndrome +1 more	GUncertain significance
Select item 345765	NM_130384.3(ATRIP):c.*583A>G	ATRIP, ATRIP-TREX1 +1 more	Single nucleotide variant (non-coding transcript variant +2 more)	Aicardi Goutieres syndrome +1 more	GUncertain significance
Select item 345766	NM_130384.3(ATRIP):c.*655G>C	ATRIP, ATRIP-TREX1 +1 more	Single nucleotide variant (non-coding transcript variant +2 more)	Aicardi Goutieres syndrome +1 more	GUncertain significance
Select item 345767	NM_130384.3(ATRIP):c.*665C>T	ATRIP, ATRIP-TREX1 +1 more	Single nucleotide variant (non-coding transcript variant +2 more)	Aicardi Goutieres syndrome +1 more	GLikely benign
Select item 345768	NM_130384.3(ATRIP):c.*682C>T	ATRIP, ATRIP-TREX1 +1 more	Single nucleotide variant (non-coding transcript variant +3 more)	Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations +1 more	GUncertain significance
Select item 345769	NM_130384.3(ATRIP):c.*714T>C	ATRIP, ATRIP-TREX1 +1 more	Single nucleotide variant (non-coding transcript variant +3 more)	Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations +2 more	GBenign
Select item 345770	NM_130384.3(ATRIP):c.*722C>T	ATRIP, ATRIP-TREX1 +1 more	Single nucleotide variant (non-coding transcript variant +3 more)	Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations +1 more	GLikely benign
Select item 345771	NM_130384.3(ATRIP):c.*732CTGC[4]	ATRIP, ATRIP-TREX1 +1 more	Microsatellite (non-coding transcript variant +3 more)	Aicardi Goutieres syndrome +1 more	GUncertain significance
Select item 632417	NM_033629.6(TREX1):c.-26-1G>A	ATRIP, ATRIP-TREX1 +1 more	Single nucleotide variant (3 prime UTR variant +2 more)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 345772	NM_033629.6(TREX1):c.9G>A (p.Ser3=)	ATRIP, ATRIP-TREX1 +1 more	Single nucleotide variant (non-coding transcript variant +3 more)	TREX1-related condition +3 more	GConflicting classifications of pathogenicity
Select item 345773	NM_033629.6(TREX1):c.183G>A (p.Pro61=)	ATRIP, ATRIP-TREX1 +1 more	Single nucleotide variant (non-coding transcript variant +2 more)	TREX1-related condition +3 more	GConflicting classifications of pathogenicity
Select item 345774	NM_033629.6(TREX1):c.198G>A (p.Lys66=)	ATRIP-TREX1, TREX1 +1 more	Single nucleotide variant (non-coding transcript variant +2 more)	not specified +3 more	GBenign
Select item 225499	NM_033629.6(TREX1):c.294dup (p.Cys99fs)	ATRIP, ATRIP-TREX1 +1 more (C99fs +1 more)	Duplication (non-coding transcript variant +2 more)	Aicardi-Goutieres syndrome 1 +4 more	GConflicting classifications of pathogenicity
Select item 345775	NM_033629.6(TREX1):c.312G>C (p.Leu104=)	ATRIP, ATRIP-TREX1 +1 more	Single nucleotide variant (non-coding transcript variant +2 more)	TREX1-related condition +3 more	GConflicting classifications of pathogenicity
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 809480	NM_033629.6(TREX1):c.346C>G (p.Pro116Ala)	TREX1, ATRIP +1 more (P116A +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Chilblain lupus 1 +3 more	GConflicting classifications of pathogenicity
Select item 345776	NM_033629.6(TREX1):c.394C>G (p.Pro132Ala)	ATRIP, ATRIP-TREX1 +1 more (P132A +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations +1 more	GLikely benign
Select item 345777	NM_033629.6(TREX1):c.418A>G (p.Met140Val)	ATRIP, ATRIP-TREX1 +1 more (M140V +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Inborn genetic diseases +3 more	GUncertain significance
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 902141	NM_033629.6(TREX1):c.473C>T (p.Ala158Val)	ATRIP, ATRIP-TREX1 +1 more (A148V +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations +3 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)	Aicardi-Goutieres syndrome 1 +5 more	GBenign
Select item 345779	NM_033629.6(TREX1):c.536T>C (p.Leu179Pro)	ATRIP, ATRIP-TREX1 +1 more (L179P +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Aicardi-Goutieres syndrome 1 +1 more	GUncertain significance
Select item 903020	NM_033629.6(TREX1):c.554G>A (p.Arg185His)	ATRIP, ATRIP-TREX1 +1 more (R175H +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations +2 more	GUncertain significance
Select item 632418	NM_033629.6(TREX1):c.635del (p.Pro212fs)	ATRIP, ATRIP-TREX1 +1 more (P202fs +1 more)	Deletion (non-coding transcript variant +2 more)	TREX1-Related Disorders +3 more	GPathogenic/Likely pathogenic
Select item 903021	NM_033629.6(TREX1):c.649C>T (p.Arg217Trp)	ATRIP, ATRIP-TREX1 +1 more (R217W +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Aicardi-Goutieres syndrome 1 +2 more	GConflicting classifications of pathogenicity
Select item 739289	NM_033629.6(TREX1):c.651G>A (p.Arg217=)	ATRIP, ATRIP-TREX1 +1 more	Single nucleotide variant (non-coding transcript variant +2 more)	Aicardi-Goutieres syndrome 1 +2 more	GConflicting classifications of pathogenicity
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)	Aicardi Goutieres syndrome +5 more	GConflicting classifications of pathogenicity
Select item 899409	NM_033629.6(TREX1):c.803G>C (p.Arg268Thr)	ATRIP, ATRIP-TREX1 +1 more (R258T +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Aicardi-Goutieres syndrome 1 +1 more	GUncertain significance
Select item 900528	NM_033629.6(TREX1):c.846A>G (p.Leu282=)	ATRIP, ATRIP-TREX1 +1 more	Single nucleotide variant (non-coding transcript variant +2 more)	Aicardi-Goutieres syndrome 1 +2 more	GConflicting classifications of pathogenicity
Select item 262243	NM_033629.6(TREX1):c.912G>A (p.Leu304=)	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 345780	NM_130384.3(ATRIP):c.*2083T>C	ATRIP, TREX1 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +2 more	GBenign

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Items: 34