ClinVar for Gene (Select 84126) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3381702	NM_033629.6(TREX1):c.371A>G (p.His124Arg)	ATRIP, ATRIP-TREX1 +1 more (H114R +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GUncertain significance
Select item 3377402	NM_033629.6(TREX1):c.635C>T (p.Pro212Leu)	ATRIP, ATRIP-TREX1 +1 more (P202L +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Aicardi-Goutieres syndrome 1	GUncertain significance
Select item 3376804	NM_033629.6(TREX1):c.850dup (p.Arg284fs)	ATRIP, ATRIP-TREX1 +1 more (R274fs +1 more)	Duplication (non-coding transcript variant +2 more)	Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations	GLikely pathogenic
Select item 3376803	NM_033629.6(TREX1):c.-27+4A>G	ATRIP, ATRIP-TREX1 +1 more	Single nucleotide variant (3 prime UTR variant +1 more)	Aicardi-Goutieres syndrome 1	GUncertain significance
Select item 3351307	NM_033629.6(TREX1):c.774del (p.Asn259fs)	ATRIP, ATRIP-TREX1 +1 more (N249fs +1 more)	Deletion (non-coding transcript variant +2 more)	TREX1-related disorder	GLikely pathogenic
Select item 3338071	NM_033629.6(TREX1):c.558_573dup (p.Pro192fs)	ATRIP, ATRIP-TREX1 +1 more (P182fs +1 more)	Duplication (non-coding transcript variant +2 more)	Chilblain lupus 1	GLikely pathogenic
Select item 3332461	NM_130384.3(ATRIP):c.2224G>A (p.Val742Met)	ATRIP, ATRIP-TREX1 (V649M +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3332435	NM_130384.3(ATRIP):c.1754G>A (p.Cys585Tyr)	ATRIP, ATRIP-TREX1 (C458Y +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3332408	NM_130384.3(ATRIP):c.1099G>C (p.Asp367His)	ATRIP, ATRIP-TREX1 (D367H +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3247057	NC_000003.11:g.(?_48501166)_(48501335_?)dup	ATRIP	Duplication	not provided	GUncertain significance
Select item 3247056	NC_000003.11:g.(?_48488250)_(48508999_?)dup	ATRIP, TREX1	Duplication	not provided	GUncertain significance
Select item 3247055	NC_000003.11:g.(?_47894522)_(49060605_?)del	ARIH2, ARIH2OS +29 more	Deletion	not provided	GUncertain significance
Select item 3182136	NM_033629.6(TREX1):c.266C>T (p.Thr89Ile)	ATRIP, ATRIP-TREX1 +1 more (T79I +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3182134	NM_033629.6(TREX1):c.164C>T (p.Pro55Leu)	ATRIP, ATRIP-TREX1 +1 more (P45L +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3182133	NM_033629.6(TREX1):c.131T>A (p.Leu44Gln)	ATRIP, ATRIP-TREX1 +1 more (L44Q +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3132129	NM_130384.3(ATRIP):c.994C>T (p.Leu332Phe)	ATRIP, ATRIP-TREX1 (L205F +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3132128	NM_130384.3(ATRIP):c.766A>G (p.Asn256Asp)	ATRIP, ATRIP-TREX1 (N163D +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3132127	NM_130384.3(ATRIP):c.2360A>G (p.Glu787Gly)	ATRIP-TREX1, LOC129936704 +1 more (E760G +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3132126	NM_130384.3(ATRIP):c.22G>A (p.Gly8Ser)	ATRIP, ATRIP-TREX1 +1 more (G8S)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 3132125	NM_130384.3(ATRIP):c.224C>G (p.Pro75Arg)	ATRIP, ATRIP-TREX1 (P75R)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 3132123	NM_130384.3(ATRIP):c.2057T>A (p.Val686Glu)	ATRIP, ATRIP-TREX1 (V559E +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3132122	NM_130384.3(ATRIP):c.2023G>A (p.Val675Ile)	ATRIP, ATRIP-TREX1 (V548I +2 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 3132121	NM_130384.3(ATRIP):c.1649C>T (p.Ser550Phe)	ATRIP, ATRIP-TREX1 (S423F +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3132120	NM_130384.3(ATRIP):c.1649C>A (p.Ser550Tyr)	ATRIP, ATRIP-TREX1 (S423Y +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3132119	NM_130384.3(ATRIP):c.1630C>T (p.His544Tyr)	ATRIP, ATRIP-TREX1 (H417Y +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3132118	NM_130384.3(ATRIP):c.1581G>C (p.Arg527Ser)	ATRIP, ATRIP-TREX1 (R400S +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3132117	NM_130384.3(ATRIP):c.1504G>A (p.Ala502Thr)	ATRIP, ATRIP-TREX1 (A409T +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3132116	NM_130384.3(ATRIP):c.1226C>T (p.Pro409Leu)	ATRIP, ATRIP-TREX1 (P409L +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3132115	NM_130384.3(ATRIP):c.1225C>T (p.Pro409Ser)	ATRIP, ATRIP-TREX1 (P409S +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3132114	NM_130384.3(ATRIP):c.1084A>C (p.Thr362Pro)	ATRIP, ATRIP-TREX1 (T362P +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3036003	NM_033629.6(TREX1):c.-26-95G>T	ATRIP, ATRIP-TREX1 +1 more	Single nucleotide variant (3 prime UTR variant +1 more)	TREX1-related disorder	GLikely benign
Select item 3032729	NM_033629.6(TREX1):c.-26-57C>T	ATRIP, ATRIP-TREX1 +1 more	Single nucleotide variant (3 prime UTR variant +1 more)	TREX1-related disorder	GUncertain significance
Select item 3029694	NM_033629.6(TREX1):c.50T>C (p.Phe17Ser)	ATRIP, ATRIP-TREX1 +1 more (F17S +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 3023406	NM_130384.3(ATRIP):c.1705G>T (p.Val569Leu)	ATRIP, ATRIP-TREX1 (V476L +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GUncertain significance
Select item 3022811	NM_130384.3(ATRIP):c.1581G>T (p.Arg527Ser)	ATRIP, ATRIP-TREX1 (R434S +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3011334	NM_130384.3(ATRIP):c.2056-9C>A	ATRIP, ATRIP-TREX1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3010205	NM_130384.3(ATRIP):c.34C>T (p.Arg12Trp)	ATRIP, ATRIP-TREX1 +1 more (R12W)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GUncertain significance
Select item 3008925	NM_130384.3(ATRIP):c.217C>T (p.Gln73Ter)	ATRIP, ATRIP-TREX1 (Q73*)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GUncertain significance
Select item 3007144	NM_130384.3(ATRIP):c.1954T>C (p.Trp652Arg)	ATRIP, ATRIP-TREX1 (W525R +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 3004932	NM_130384.3(ATRIP):c.1924C>T (p.Arg642Trp)	ATRIP, ATRIP-TREX1 (R642W +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 3001922	NM_130384.3(ATRIP):c.1910T>C (p.Met637Thr)	ATRIP, ATRIP-TREX1 (M544T +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 3000602	NM_130384.3(ATRIP):c.32G>C (p.Arg11Thr)	ATRIP, ATRIP-TREX1 +1 more (R11T)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GUncertain significance
Select item 2999636	NM_130384.3(ATRIP):c.1994A>G (p.Lys665Arg)	ATRIP, ATRIP-TREX1 (K538R +2 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GUncertain significance
Select item 2998747	NM_130384.3(ATRIP):c.726T>G (p.Phe242Leu)	ATRIP, ATRIP-TREX1 (F149L +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2997011	NM_130384.3(ATRIP):c.1047G>A (p.Gly349=)	ATRIP, ATRIP-TREX1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2994724	NM_130384.3(ATRIP):c.2192C>A (p.Ser731Ter)	ATRIP, ATRIP-TREX1 (S704* +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2994124	NM_130384.3(ATRIP):c.174C>A (p.Asp58Glu)	ATRIP, ATRIP-TREX1 +1 more (D58E)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GUncertain significance
Select item 2989423	NM_130384.3(ATRIP):c.2074G>A (p.Val692Met)	ATRIP, ATRIP-TREX1 (V665M +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2988672	NM_130384.3(ATRIP):c.2309-8dup	ATRIP, ATRIP-TREX1 +1 more	Duplication (intron variant)	not provided	GBenign
Select item 2985261	NM_130384.3(ATRIP):c.2359_2360delinsAG (p.Glu787Arg)	ATRIP, ATRIP-TREX1 +1 more (E694R +3 more)	Indel (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2984331	NM_130384.3(ATRIP):c.395AAG[2] (p.Glu134del)	ATRIP, ATRIP-TREX1 (E41del +2 more)	Microsatellite (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2981743	NM_130384.3(ATRIP):c.1953A>G (p.Gln651=)	ATRIP, ATRIP-TREX1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2979887	NM_130384.3(ATRIP):c.671+20del	ATRIP, ATRIP-TREX1	Deletion (intron variant)	not provided	GLikely benign
Select item 2978982	NM_130384.3(ATRIP):c.1112C>G (p.Ser371Cys)	ATRIP, ATRIP-TREX1 (S244C +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2975419	NM_130384.3(ATRIP):c.1564A>G (p.Met522Val)	ATRIP, ATRIP-TREX1 (M429V +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2975058	NM_130384.3(ATRIP):c.196C>T (p.Leu66Phe)	ATRIP, ATRIP-TREX1 +1 more (L66F)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GUncertain significance
Select item 2972448	NM_130384.3(ATRIP):c.1485A>G (p.Leu495=)	ATRIP, ATRIP-TREX1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2971372	NM_130384.3(ATRIP):c.2235G>C (p.Leu745=)	ATRIP, ATRIP-TREX1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2969265	NM_130384.3(ATRIP):c.2292T>C (p.Asp764=)	ATRIP, ATRIP-TREX1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2967304	NM_130384.3(ATRIP):c.1120G>A (p.Ala374Thr)	ATRIP, ATRIP-TREX1 (A374T +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2963112	NM_130384.3(ATRIP):c.2336C>T (p.Ala779Val)	ATRIP, ATRIP-TREX1 +1 more (A686V +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GUncertain significance
Select item 2961989	NM_130384.3(ATRIP):c.1175A>G (p.Asn392Ser)	ATRIP, ATRIP-TREX1 (N299S +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2961755	NM_130384.3(ATRIP):c.225G>A (p.Pro75=)	ATRIP, ATRIP-TREX1	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GLikely benign
Select item 2959269	NM_130384.3(ATRIP):c.522C>G (p.Leu174=)	ATRIP, ATRIP-TREX1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2958479	NM_130384.3(ATRIP):c.2055+14G>A	ATRIP, ATRIP-TREX1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2956709	NM_130384.3(ATRIP):c.1545C>T (p.His515=)	ATRIP, ATRIP-TREX1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2954364	NM_033629.6(TREX1):c.18G>C (p.Leu6=)	ATRIP, ATRIP-TREX1 +1 more	Single nucleotide variant (non-coding transcript variant +3 more)	Aicardi-Goutieres syndrome 1 +2 more	GLikely benign
Select item 2954148	NM_033629.6(TREX1):c.298T>C (p.Phe100Leu)	ATRIP, ATRIP-TREX1 +1 more (F100L +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Aicardi-Goutieres syndrome 1 +2 more	GUncertain significance
Select item 2953754	NM_033629.6(TREX1):c.207G>T (p.Leu69=)	ATRIP, ATRIP-TREX1 +1 more	Single nucleotide variant (non-coding transcript variant +2 more)	Aicardi-Goutieres syndrome 1 +2 more	GLikely benign
Select item 2953663	NM_033629.6(TREX1):c.216T>A (p.Ala72=)	ATRIP, ATRIP-TREX1 +1 more	Single nucleotide variant (non-coding transcript variant +2 more)	Aicardi-Goutieres syndrome 1 +2 more	GLikely benign
Select item 2952559	NM_033629.6(TREX1):c.495A>C (p.Ala165=)	ATRIP, ATRIP-TREX1 +1 more	Single nucleotide variant (non-coding transcript variant +2 more)	Aicardi-Goutieres syndrome 1 +2 more	GLikely benign
Select item 2952333	NM_033629.6(TREX1):c.902dup (p.Ala302fs)	TREX1, ATRIP +1 more (A292fs +1 more)	Duplication (3 prime UTR variant +2 more)	Aicardi-Goutieres syndrome 1 +2 more	GUncertain significance
Select item 2952190	NM_033629.6(TREX1):c.141_151del (p.Pro48fs)	ATRIP, ATRIP-TREX1 +1 more (P38fs +1 more)	Deletion (non-coding transcript variant +2 more)	Aicardi-Goutieres syndrome 1 +2 more	GPathogenic
Select item 2951953	NM_033629.6(TREX1):c.710_711insG (p.Ser238fs)	ATRIP, ATRIP-TREX1 +1 more (S228fs +1 more)	Insertion (non-coding transcript variant +2 more)	Aicardi-Goutieres syndrome 1 +2 more	GUncertain significance
Select item 2951580	NM_033629.6(TREX1):c.502C>T (p.Pro168Ser)	ATRIP, ATRIP-TREX1 +1 more (P158S +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Aicardi-Goutieres syndrome 1 +2 more	GUncertain significance
Select item 2951492	NM_033629.6(TREX1):c.760C>A (p.Leu254Met)	ATRIP, ATRIP-TREX1 +1 more (L244M +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Aicardi-Goutieres syndrome 1 +2 more	GUncertain significance
Select item 2951438	NM_033629.6(TREX1):c.400C>A (p.Leu134Ile)	ATRIP, ATRIP-TREX1 +1 more (L134I +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Aicardi-Goutieres syndrome 1 +2 more	GUncertain significance
Select item 2951268	NM_033629.6(TREX1):c.249G>A (p.Glu83=)	ATRIP, ATRIP-TREX1 +1 more	Single nucleotide variant (non-coding transcript variant +2 more)	Aicardi-Goutieres syndrome 1 +2 more	GLikely benign
Select item 2950987	NM_033629.6(TREX1):c.378T>C (p.Gly126=)	ATRIP, ATRIP-TREX1 +1 more	Single nucleotide variant (non-coding transcript variant +2 more)	Aicardi-Goutieres syndrome 1 +2 more	GLikely benign
Select item 2949716	NM_033629.6(TREX1):c.666C>T (p.His222=)	ATRIP, ATRIP-TREX1 +1 more	Single nucleotide variant (non-coding transcript variant +2 more)	Aicardi-Goutieres syndrome 1 +2 more	GLikely benign
Select item 2949580	NM_033629.6(TREX1):c.213G>A (p.Val71=)	ATRIP, ATRIP-TREX1 +1 more	Single nucleotide variant (non-coding transcript variant +2 more)	Aicardi-Goutieres syndrome 1 +2 more	GLikely benign
Select item 2949500	NM_033629.6(TREX1):c.930C>A (p.Ala310=)	ATRIP, ATRIP-TREX1 +1 more	Single nucleotide variant (non-coding transcript variant +2 more)	Aicardi-Goutieres syndrome 1 +2 more	GLikely benign
Select item 2949304	NM_033629.6(TREX1):c.670A>C (p.Arg224=)	ATRIP, ATRIP-TREX1 +1 more	Single nucleotide variant (non-coding transcript variant +2 more)	Aicardi-Goutieres syndrome 1 +2 more	GLikely benign
Select item 2949303	NM_033629.6(TREX1):c.663T>G (p.Ala221=)	ATRIP, ATRIP-TREX1 +1 more	Single nucleotide variant (non-coding transcript variant +2 more)	Aicardi-Goutieres syndrome 1 +2 more	GLikely benign
Select item 2949175	NM_033629.6(TREX1):c.178C>T (p.Pro60Ser)	ATRIP, ATRIP-TREX1 +1 more (P50S +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 2948970	NM_033629.6(TREX1):c.30C>G (p.Pro10=)	ATRIP, ATRIP-TREX1 +1 more	Single nucleotide variant (non-coding transcript variant +3 more)	Aicardi-Goutieres syndrome 1 +2 more	GLikely benign
Select item 2948399	NM_033629.6(TREX1):c.769A>G (p.Thr257Ala)	ATRIP, ATRIP-TREX1 +1 more (T257A +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Aicardi-Goutieres syndrome 1 +2 more	GUncertain significance
Select item 2948275	NM_033629.6(TREX1):c.366_367del (p.Ala123fs)	ATRIP, ATRIP-TREX1 +1 more (A113fs +1 more)	Deletion (non-coding transcript variant +2 more)	Aicardi-Goutieres syndrome 1 +2 more	GPathogenic
Select item 2947989	NM_033629.6(TREX1):c.918A>G (p.Gly306=)	ATRIP, ATRIP-TREX1 +1 more	Single nucleotide variant (synonymous variant +2 more)	Aicardi-Goutieres syndrome 1 +2 more	GLikely benign
Select item 2947451	NM_033629.6(TREX1):c.589G>A (p.Ala197Thr)	TREX1, ATRIP +1 more (A187T +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Aicardi-Goutieres syndrome 1 +2 more	GUncertain significance
Select item 2947393	NM_033629.6(TREX1):c.753T>G (p.Thr251=)	ATRIP, ATRIP-TREX1 +1 more	Single nucleotide variant (non-coding transcript variant +2 more)	Aicardi-Goutieres syndrome 1 +2 more	GLikely benign
Select item 2947312	NM_033629.6(TREX1):c.565C>T (p.Gln189Ter)	ATRIP, ATRIP-TREX1 +1 more (Q179* +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Aicardi-Goutieres syndrome 1 +2 more	GPathogenic
Select item 2947250	NM_033629.6(TREX1):c.558G>C (p.Leu186=)	ATRIP, ATRIP-TREX1 +1 more	Single nucleotide variant (non-coding transcript variant +2 more)	Aicardi-Goutieres syndrome 1 +2 more	GLikely benign
Select item 2946843	NM_033629.6(TREX1):c.786C>T (p.Pro262=)	ATRIP, ATRIP-TREX1 +1 more	Single nucleotide variant (non-coding transcript variant +2 more)	Aicardi-Goutieres syndrome 1 +2 more	GLikely benign
Select item 2946669	NM_033629.6(TREX1):c.735A>T (p.Pro245=)	ATRIP, ATRIP-TREX1 +1 more	Single nucleotide variant (non-coding transcript variant +2 more)	Aicardi-Goutieres syndrome 1 +2 more	GLikely benign
Select item 2946500	NM_033629.6(TREX1):c.324C>T (p.Leu108=)	ATRIP, ATRIP-TREX1 +1 more	Single nucleotide variant (non-coding transcript variant +2 more)	Aicardi-Goutieres syndrome 1 +2 more	GLikely benign
Select item 2946357	NM_033629.6(TREX1):c.75C>G (p.Pro25=)	ATRIP, ATRIP-TREX1 +1 more	Single nucleotide variant (non-coding transcript variant +2 more)	Aicardi-Goutieres syndrome 1 +2 more	GLikely benign
Select item 2946191	NM_033629.6(TREX1):c.873G>C (p.Leu291=)	ATRIP, ATRIP-TREX1 +1 more	Single nucleotide variant (non-coding transcript variant +2 more)	Aicardi-Goutieres syndrome 1 +2 more	GLikely benign
Select item 2945896	NM_033629.6(TREX1):c.69dup (p.Pro25fs)	ATRIP, ATRIP-TREX1 +1 more (P15fs +1 more)	Duplication (non-coding transcript variant +2 more)	Aicardi-Goutieres syndrome 1 +2 more	GPathogenic
Select item 2945736	NM_033629.6(TREX1):c.736T>C (p.Ser246Pro)	ATRIP, ATRIP-TREX1 +1 more (S236P +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Aicardi-Goutieres syndrome 1 +2 more	GUncertain significance

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