ClinVar for MedGen (Select 348124) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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)	Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations +2 more	GLikely benign
Select item 2952333	NM_033629.6(TREX1):c.902dup (p.Ala302fs)	ATRIP, ATRIP-TREX1 +1 more (A292fs +1 more)	Duplication (non-coding transcript variant +2 more)	Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations +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)	Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations +2 more	GPathogenic
Select item 2951953	NM_033629.6(TREX1):c.710_711insG (p.Ser238fs)	ATRIP, ATRIP-TREX1 +1 more (S228fs +1 more)	Insertion (3 prime UTR variant +2 more)	Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations +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)	Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations +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)	Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations +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)	Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations +2 more	GUncertain significance
Select item 2951268	NM_033629.6(TREX1):c.249G>A (p.Glu83=)	ATRIP-TREX1, TREX1 +1 more	Single nucleotide variant (non-coding transcript variant +2 more)	Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations +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)	Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations +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)	Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations +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=)	TREX1, ATRIP +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)	Aicardi-Goutieres syndrome 1 +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 (non-coding transcript variant +2 more)	Aicardi-Goutieres syndrome 1 +2 more	GLikely benign
Select item 2947451	NM_033629.6(TREX1):c.589G>A (p.Ala197Thr)	ATRIP, ATRIP-TREX1 +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 (nonsense +2 more)	Aicardi-Goutieres syndrome 1 +2 more	GPathogenic
Select item 2947250	NM_033629.6(TREX1):c.558G>C (p.Leu186=)	ATRIP-TREX1, TREX1 +1 more	Single nucleotide variant (synonymous 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-TREX1, 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
Select item 2945357	NM_033629.6(TREX1):c.663T>A (p.Ala221=)	ATRIP-TREX1, ATRIP +1 more	Single nucleotide variant (non-coding transcript variant +2 more)	Chilblain lupus 1 +2 more	GLikely benign
Select item 2945098	NM_033629.6(TREX1):c.787A>C (p.Ser263Arg)	ATRIP, ATRIP-TREX1 +1 more (S253R +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Chilblain lupus 1 +2 more	GUncertain significance
Select item 2945078	NM_033629.6(TREX1):c.102G>A (p.Leu34=)	ATRIP, ATRIP-TREX1 +1 more	Single nucleotide variant (non-coding transcript variant +2 more)	Chilblain lupus 1 +2 more	GLikely benign
Select item 2945022	NM_033629.6(TREX1):c.55dup (p.Met19fs)	ATRIP, ATRIP-TREX1 +1 more (M19fs +1 more)	Duplication (non-coding transcript variant +2 more)	Chilblain lupus 1 +2 more	GPathogenic
Select item 2944917	NM_033629.6(TREX1):c.294A>C (p.Gln98His)	ATRIP, ATRIP-TREX1 +1 more (Q98H +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Chilblain lupus 1 +2 more	GUncertain significance
Select item 2944466	NM_033629.6(TREX1):c.76_80dup (p.Gln28fs)	ATRIP, ATRIP-TREX1 +1 more (Q28fs +1 more)	Duplication (non-coding transcript variant +2 more)	Chilblain lupus 1 +2 more	GPathogenic
Select item 2944418	NM_033629.6(TREX1):c.703del (p.Val235fs)	ATRIP, ATRIP-TREX1 +1 more (V235fs +1 more)	Deletion (non-coding transcript variant +2 more)	Chilblain lupus 1 +2 more	GUncertain significance
Select item 2944374	NM_033629.6(TREX1):c.915T>C (p.Tyr305=)	TREX1, ATRIP-TREX1 +1 more	Single nucleotide variant (non-coding transcript variant +2 more)	Chilblain lupus 1 +2 more	GLikely benign
Select item 2944179	NM_033629.6(TREX1):c.440T>C (p.Leu147Pro)	ATRIP, ATRIP-TREX1 +1 more (L147P +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Chilblain lupus 1 +2 more	GUncertain significance
Select item 2944142	NM_033629.6(TREX1):c.302A>G (p.Asp101Gly)	TREX1, ATRIP +1 more (D101G +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Chilblain lupus 1 +2 more	GUncertain significance
Select item 2943848	NM_033629.6(TREX1):c.408A>G (p.Ala136=)	ATRIP, ATRIP-TREX1 +1 more	Single nucleotide variant (non-coding transcript variant +2 more)	Chilblain lupus 1 +2 more	GLikely benign
Select item 2943739	NM_033629.6(TREX1):c.901G>A (p.Val301Ile)	ATRIP, ATRIP-TREX1 +1 more (V301I +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Chilblain lupus 1 +2 more	GUncertain significance
Select item 2943586	NM_033629.6(TREX1):c.655G>T (p.Val219Leu)	ATRIP-TREX1, ATRIP +1 more (V219L +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 2943552	NM_033629.6(TREX1):c.524_526dup (p.Lys175_Ser176insLys)	ATRIP, ATRIP-TREX1 +1 more	Duplication (non-coding transcript variant +2 more)	Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations +2 more	GUncertain significance
Select item 2943361	NM_033629.6(TREX1):c.519A>G (p.Pro173=)	ATRIP, ATRIP-TREX1 +1 more	Single nucleotide variant (non-coding transcript variant +2 more)	Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations +2 more	GLikely benign
Select item 2943287	NM_033629.6(TREX1):c.382_390del (p.Arg128_Asp130del)	ATRIP, ATRIP-TREX1 +1 more	Deletion (non-coding transcript variant +2 more)	Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations +2 more	GUncertain significance
Select item 2942809	NM_033629.6(TREX1):c.574C>T (p.Pro192Ser)	TREX1, ATRIP-TREX1 +1 more (P192S +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 2942618	NM_033629.6(TREX1):c.649C>A (p.Arg217=)	ATRIP, ATRIP-TREX1 +1 more	Single nucleotide variant (non-coding transcript variant +2 more)	Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations +2 more	GLikely benign
Select item 2942595	NM_033629.6(TREX1):c.371_381del (p.His124fs)	ATRIP, ATRIP-TREX1 +1 more (H114fs +1 more)	Deletion (non-coding transcript variant +2 more)	Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations +2 more	GPathogenic
Select item 2942588	NM_033629.6(TREX1):c.205_206del (p.Leu69fs)	ATRIP, ATRIP-TREX1 +1 more (L59fs +1 more)	Deletion (non-coding transcript variant +2 more)	Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations +2 more	GPathogenic
Select item 2942076	NM_033629.6(TREX1):c.306C>T (p.Asp102=)	ATRIP, ATRIP-TREX1 +1 more	Single nucleotide variant (non-coding transcript variant +2 more)	Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations +2 more	GLikely benign
Select item 2941770	NM_033629.6(TREX1):c.518C>T (p.Pro173Leu)	ATRIP, ATRIP-TREX1 +1 more (P173L +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 2941490	NM_033629.6(TREX1):c.69C>T (p.Gly23=)	ATRIP, ATRIP-TREX1 +1 more	Single nucleotide variant (non-coding transcript variant +2 more)	Aicardi-Goutieres syndrome 1 +2 more	GLikely benign
Select item 2940934	NM_033629.6(TREX1):c.781A>G (p.Ser261Gly)	ATRIP, ATRIP-TREX1 +1 more (S251G +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	Aicardi-Goutieres syndrome 1 +2 more	GUncertain significance
Select item 2940925	NM_033629.6(TREX1):c.259C>G (p.Leu87Val)	TREX1, ATRIP +1 more (L87V +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Aicardi-Goutieres syndrome 1 +2 more	GUncertain significance
Select item 2940861	NM_033629.6(TREX1):c.491G>T (p.Arg164Leu)	ATRIP, ATRIP-TREX1 +1 more (R164L +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Aicardi-Goutieres syndrome 1 +2 more	GUncertain significance
Select item 2940673	NM_033629.6(TREX1):c.645G>A (p.Leu215=)	ATRIP, ATRIP-TREX1 +1 more	Single nucleotide variant (3 prime UTR variant +2 more)	Aicardi-Goutieres syndrome 1 +2 more	GLikely benign
Select item 2940534	NM_033629.6(TREX1):c.54C>T (p.Asp18=)	ATRIP, ATRIP-TREX1 +1 more	Single nucleotide variant (non-coding transcript variant +2 more)	Aicardi-Goutieres syndrome 1 +2 more	GLikely benign
Select item 2940128	NM_033629.6(TREX1):c.871C>T (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 2939887	NM_033629.6(TREX1):c.284A>C (p.His95Pro)	ATRIP, ATRIP-TREX1 +1 more (H85P +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Aicardi-Goutieres syndrome 1 +2 more	GUncertain significance
Select item 2939438	NM_033629.6(TREX1):c.705C>T (p.Val235=)	ATRIP, ATRIP-TREX1 +1 more	Single nucleotide variant (non-coding transcript variant +2 more)	Aicardi-Goutieres syndrome 1 +2 more	GLikely benign
Select item 2939141	NM_033629.6(TREX1):c.294_296dup (p.Cys99Ter)	ATRIP, ATRIP-TREX1 +1 more (C99* +1 more)	Duplication (non-coding transcript variant +2 more)	Aicardi-Goutieres syndrome 1 +2 more	GPathogenic
Select item 2938556	NM_033629.6(TREX1):c.531_548del (p.Ser178_Tyr183del)	ATRIP, ATRIP-TREX1 +1 more	Deletion (non-coding transcript variant +2 more)	Aicardi-Goutieres syndrome 1 +2 more	GUncertain significance
Select item 2938449	NM_033629.6(TREX1):c.142C>T (p.Pro48Ser)	TREX1, ATRIP +1 more (P48S +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Aicardi-Goutieres syndrome 1 +2 more	GUncertain significance
Select item 2937830	NM_033629.6(TREX1):c.505T>C (p.Ser169Pro)	ATRIP, ATRIP-TREX1 +1 more (S159P +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Aicardi-Goutieres syndrome 1 +2 more	GUncertain significance
Select item 2937711	NM_033629.6(TREX1):c.495A>G (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 2937632	NM_033629.6(TREX1):c.921A>G (p.Leu307=)	ATRIP, ATRIP-TREX1 +1 more	Single nucleotide variant (non-coding transcript variant +2 more)	Aicardi-Goutieres syndrome 1 +2 more	GLikely benign
Select item 2937433	NM_033629.6(TREX1):c.295T>C (p.Cys99Arg)	ATRIP, ATRIP-TREX1 +1 more (C89R +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 2937195	NM_033629.6(TREX1):c.56T>C (p.Met19Thr)	ATRIP, ATRIP-TREX1 +1 more (M9T +1 more)	Single nucleotide variant (missense variant +2 more)	Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations +2 more	GUncertain significance
Select item 2936991	NM_033629.6(TREX1):c.522_523delinsTT (p.Arg174_Lys175delinsSerTer)	ATRIP, ATRIP-TREX1 +1 more	Indel (nonsense +2 more)	Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations +2 more	GPathogenic
Select item 2936950	NM_033629.6(TREX1):c.391T>A (p.Phe131Ile)	ATRIP, ATRIP-TREX1 +1 more (F121I +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 2936844	NM_033629.6(TREX1):c.349C>T (p.Gln117Ter)	ATRIP, ATRIP-TREX1 +1 more (Q107* +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations +2 more	GPathogenic
Select item 2936701	NM_033629.6(TREX1):c.143C>G (p.Pro48Arg)	ATRIP, ATRIP-TREX1 +1 more (P38R +1 more)	Single nucleotide variant (missense variant +2 more)	Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations +2 more	GUncertain significance
Select item 2936693	NM_033629.6(TREX1):c.391T>C (p.Phe131Leu)	ATRIP, ATRIP-TREX1 +1 more (F121L +1 more)	Single nucleotide variant (missense variant +2 more)	Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations +2 more	GUncertain significance
Select item 2936628	NM_033629.6(TREX1):c.140C>A (p.Pro47His)	ATRIP, ATRIP-TREX1 +1 more (P37H +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 2935652	NM_033629.6(TREX1):c.15C>T (p.Ala5=)	ATRIP, ATRIP-TREX1 +1 more	Single nucleotide variant (non-coding transcript variant +3 more)	Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations +2 more	GLikely benign
Select item 2935364	NM_033629.6(TREX1):c.623G>A (p.Cys208Tyr)	ATRIP, ATRIP-TREX1 +1 more (C198Y +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Aicardi-Goutieres syndrome 1 +2 more	GUncertain significance
Select item 2935120	NM_033629.6(TREX1):c.471T>C (p.Thr157=)	ATRIP-TREX1, ATRIP +1 more	Single nucleotide variant (non-coding transcript variant +2 more)	Aicardi-Goutieres syndrome 1 +2 more	GLikely benign
Select item 2934335	NM_033629.6(TREX1):c.662C>T (p.Ala221Val)	ATRIP, ATRIP-TREX1 +1 more (A211V +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Aicardi-Goutieres syndrome 1 +2 more	GUncertain significance
Select item 2934262	NM_033629.6(TREX1):c.664C>A (p.His222Asn)	TREX1, ATRIP +1 more (H212N +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Aicardi-Goutieres syndrome 1 +2 more	GUncertain significance
Select item 2933956	NM_033629.6(TREX1):c.6C>T (p.Gly2=)	ATRIP, ATRIP-TREX1 +1 more	Single nucleotide variant (non-coding transcript variant +3 more)	Aicardi-Goutieres syndrome 1 +2 more	GLikely benign
Select item 2933834	NM_033629.6(TREX1):c.194A>G (p.Asp65Gly)	ATRIP, ATRIP-TREX1 +1 more (D55G +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Aicardi-Goutieres syndrome 1 +2 more	GUncertain significance
Select item 2933710	NM_033629.6(TREX1):c.889C>T (p.Leu297=)	ATRIP, ATRIP-TREX1 +1 more	Single nucleotide variant (synonymous variant +2 more)	Aicardi-Goutieres syndrome 1 +2 more	GLikely benign
Select item 2933663	NM_033629.6(TREX1):c.247G>C (p.Glu83Gln)	ATRIP, ATRIP-TREX1 +1 more (E73Q +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Aicardi-Goutieres syndrome 1 +2 more	GUncertain significance
Select item 2933644	NM_033629.6(TREX1):c.465C>T (p.Ser155=)	ATRIP, ATRIP-TREX1 +1 more	Single nucleotide variant (non-coding transcript variant +2 more)	Aicardi-Goutieres syndrome 1 +2 more	GLikely benign
Select item 2933512	NM_033629.6(TREX1):c.642C>G (p.Ala214=)	ATRIP, ATRIP-TREX1 +1 more	Single nucleotide variant (non-coding transcript variant +2 more)	Chilblain lupus 1 +2 more	GLikely benign
Select item 2933446	NM_033629.6(TREX1):c.815A>T (p.Asp272Val)	ATRIP, ATRIP-TREX1 +1 more (D262V +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Chilblain lupus 1 +2 more	GUncertain significance
Select item 2932637	NM_033629.6(TREX1):c.425G>C (p.Gly142Ala)	TREX1, ATRIP +1 more (G132A +1 more)	Single nucleotide variant (missense variant +2 more)	Chilblain lupus 1 +2 more	GUncertain significance
Select item 2932467	NM_033629.6(TREX1):c.830A>G (p.Lys277Arg)	ATRIP, ATRIP-TREX1 +1 more (K267R +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Chilblain lupus 1 +2 more	GUncertain significance
Select item 2930694	NM_033629.6(TREX1):c.72G>A (p.Leu24=)	ATRIP, ATRIP-TREX1 +1 more	Single nucleotide variant (synonymous variant +2 more)	Aicardi-Goutieres syndrome 1 +2 more	GLikely benign
Select item 2930302	NM_033629.6(TREX1):c.226_233dup (p.Ser78fs)	TREX1, ATRIP +1 more (S68fs +1 more)	Duplication (3 prime UTR variant +2 more)	Aicardi-Goutieres syndrome 1 +2 more	GPathogenic
Select item 2930108	NM_033629.6(TREX1):c.165C>T (p.Pro55=)	ATRIP, ATRIP-TREX1 +1 more	Single nucleotide variant (non-coding transcript variant +2 more)	Aicardi-Goutieres syndrome 1 +2 more	GLikely benign
Select item 2928641	NM_033629.6(TREX1):c.21C>A (p.Pro7=)	TREX1, ATRIP +1 more	Single nucleotide variant (non-coding transcript variant +3 more)	Chilblain lupus 1 +2 more	GLikely benign
Select item 2927505	NM_033629.6(TREX1):c.450C>G (p.Ala150=)	ATRIP, ATRIP-TREX1 +1 more	Single nucleotide variant (non-coding transcript variant +2 more)	Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations +2 more	GLikely benign
Select item 2926491	NM_033629.6(TREX1):c.314C>T (p.Ala105Val)	ATRIP, ATRIP-TREX1 +1 more (A95V +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 2926352	NM_033629.6(TREX1):c.521G>A (p.Arg174Lys)	ATRIP, ATRIP-TREX1 +1 more (R164K +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations +2 more	GUncertain significance

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