TREX1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144168	GRCh38/hg38 3p21.31-21.2(chr3:45879883-50749922)x4	ALS2CL, AMIGO3 +379 more	Copy number gain	See cases	GPathogenic
Select item 1191674	NM_130384.3(ATRIP):c.*229A>G	ATRIP, ATRIP-TREX1 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 345761	NM_130384.3(ATRIP):c.*267T>C	ATRIP, ATRIP-TREX1 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations +1 more	GLikely benign
Select item 345762	NM_130384.3(ATRIP):c.*272del	ATRIP, ATRIP-TREX1 +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)	Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations +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)	Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations +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 586839	NM_130384.3(ATRIP):c.*966G>A	ATRIP, ATRIP-TREX1 +1 more	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2634861	NM_033629.6(TREX1):c.-26-96G>A	ATRIP, ATRIP-TREX1 +1 more	Single nucleotide variant (3 prime UTR variant +1 more)	TREX1-related condition	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 condition	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 condition	GUncertain significance
Select item 1029599	NM_130384.3(ATRIP):c.*1024C>T	ATRIP, ATRIP-TREX1 +1 more	Single nucleotide variant (3 prime UTR variant +1 more)	Aicardi-Goutieres syndrome 1	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 2636633	NM_033629.6(TREX1):c.-11C>T	ATRIP, ATRIP-TREX1 +1 more	Single nucleotide variant (non-coding transcript variant +3 more)	TREX1-related condition	GUncertain significance
Select item 2023861	NM_033629.6(TREX1):c.-11_2del (p.Met1fs)	ATRIP, ATRIP-TREX1 +1 more (M1fs)	Deletion (non-coding transcript variant +4 more)	Aicardi-Goutieres syndrome 1 +2 more	GUncertain significance
Select item 931952	NM_033629.6(TREX1):c.1A>G (p.Met1Val)	ATRIP, ATRIP-TREX1 +1 more (M1V)	Single nucleotide variant (non-coding transcript variant +4 more)	Systemic lupus erythematosus +4 more	GConflicting classifications of pathogenicity
Select item 1366935	NM_033629.6(TREX1):c.2T>C (p.Met1Thr)	ATRIP, ATRIP-TREX1 +1 more (M1T)	Single nucleotide variant (non-coding transcript variant +4 more)	Aicardi-Goutieres syndrome 1 +2 more	GUncertain significance
Select item 1455316	NM_033629.6(TREX1):c.5del (p.Gly2fs)	ATRIP, ATRIP-TREX1 +1 more (G2fs)	Deletion (non-coding transcript variant +4 more)	Aicardi-Goutieres syndrome 1 +2 more	GPathogenic
Select item 1389648	NM_033629.6(TREX1):c.5G>T (p.Gly2Val)	ATRIP, ATRIP-TREX1 +1 more (G2V)	Single nucleotide variant (non-coding transcript variant +3 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 1391593	NM_033629.6(TREX1):c.8C>T (p.Ser3Leu)	ATRIP, ATRIP-TREX1 +1 more (S3L)	Single nucleotide variant (non-coding transcript variant +3 more)	Aicardi-Goutieres syndrome 1 +2 more	GUncertain significance
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 1988002	NM_033629.6(TREX1):c.10C>A (p.Gln4Lys)	ATRIP-TREX1, ATRIP +1 more (Q4K)	Single nucleotide variant (missense variant +3 more)	Aicardi-Goutieres syndrome 1 +2 more	GUncertain significance
Select item 1720944	NM_033629.6(TREX1):c.14C>A (p.Ala5Asp)	ATRIP, ATRIP-TREX1 +1 more (A5D)	Single nucleotide variant (non-coding transcript variant +3 more)	Aicardi-Goutieres syndrome 1 +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 2127740	NM_033629.6(TREX1):c.18dup (p.Pro7fs)	ATRIP, ATRIP-TREX1 +1 more (P7fs)	Duplication (non-coding transcript variant +3 more)	Aicardi-Goutieres syndrome 1 +2 more	GPathogenic
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 953494	NM_033629.6(TREX1):c.23dup (p.Pro10fs)	ATRIP, ATRIP-TREX1 +1 more (P10fs)	Duplication (non-coding transcript variant +3 more)	Aicardi-Goutieres syndrome 1 +3 more	GConflicting classifications of pathogenicity
Select item 1691056	NM_033629.6(TREX1):c.19C>T (p.Pro7Ser)	ATRIP, ATRIP-TREX1 +1 more (P7S)	Single nucleotide variant (non-coding transcript variant +3 more)	See cases	GUncertain significance
Select item 1949577	NM_033629.6(TREX1):c.20C>G (p.Pro7Arg)	ATRIP, ATRIP-TREX1 +1 more (P7R)	Single nucleotide variant (non-coding transcript variant +3 more)	Aicardi-Goutieres syndrome 1 +2 more	GUncertain significance
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 753285	NM_033629.6(TREX1):c.21C>T (p.Pro7=)	TREX1, ATRIP +1 more	Single nucleotide variant (non-coding transcript variant +3 more)	Chilblain lupus 1 +2 more	GLikely benign
Select item 1943932	NM_033629.6(TREX1):c.22C>G (p.Pro8Ala)	ATRIP, ATRIP-TREX1 +1 more (P8A)	Single nucleotide variant (non-coding transcript variant +3 more)	Aicardi-Goutieres syndrome 1 +2 more	GUncertain significance
Select item 1058471	NM_033629.6(TREX1):c.23C>T (p.Pro8Leu)	ATRIP, ATRIP-TREX1 +1 more (P8L)	Single nucleotide variant (non-coding transcript variant +3 more)	Inborn genetic diseases +3 more	GUncertain significance
Select item 844413	NM_033629.6(TREX1):c.24G>A (p.Pro8=)	TREX1, ATRIP +1 more	Single nucleotide variant (non-coding transcript variant +3 more)	Aicardi-Goutieres syndrome 1 +2 more	GLikely benign
Select item 1015699	NM_033629.6(TREX1):c.26G>A (p.Gly9Glu)	TREX1, ATRIP-TREX1 +1 more (G9E)	Single nucleotide variant (non-coding transcript variant +3 more)	Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations +2 more	GUncertain significance
Select item 729779	NM_033629.6(TREX1):c.27G>T (p.Gly9=)	ATRIP, ATRIP-TREX1 +1 more	Single nucleotide variant (non-coding transcript variant +3 more)	Aicardi-Goutieres syndrome 1 +2 more	GLikely benign
Select item 1426296	NM_033629.6(TREX1):c.29C>A (p.Pro10His)	ATRIP, ATRIP-TREX1 +1 more (P10H)	Single nucleotide variant (non-coding transcript variant +3 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 1661016	NM_033629.6(TREX1):c.30C>T (p.Pro10=)	ATRIP, ATRIP-TREX1 +1 more	Single nucleotide variant (3 prime UTR variant +3 more)	Aicardi-Goutieres syndrome 1 +2 more	GLikely benign
Select item 2102492	NM_033629.6(TREX1):c.32T>C (p.Met11Thr)	ATRIP, ATRIP-TREX1 +1 more (M1T +1 more)	Single nucleotide variant (non-coding transcript variant +3 more)	Aicardi-Goutieres syndrome 1 +2 more	GUncertain significance
Select item 624023	NM_033629.6(TREX1):c.32T>G (p.Met11Arg)	TREX1, ATRIP +1 more (M11R +1 more)	Single nucleotide variant (non-coding transcript variant +3 more)	not provided	GUncertain significance
Select item 1394467	NM_033629.6(TREX1):c.35A>G (p.Gln12Arg)	ATRIP, ATRIP-TREX1 +1 more (Q12R +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Chilblain lupus 1 +2 more	GUncertain significance
Select item 2080416	NM_033629.6(TREX1):c.40C>T (p.Leu14Phe)	ATRIP, ATRIP-TREX1 +1 more (L14F +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Aicardi-Goutieres syndrome 1 +2 more	GUncertain significance
Select item 1377051	NM_033629.6(TREX1):c.43_45dup (p.Ile15dup)	ATRIP, ATRIP-TREX1 +1 more	Duplication (non-coding transcript variant +2 more)	Aicardi-Goutieres syndrome 1 +2 more	GUncertain significance
Select item 2431032	NM_033629.6(TREX1):c.45C>G (p.Ile15Met)	ATRIP, ATRIP-TREX1 +1 more (I15M +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GUncertain significance
Select item 3029694	NM_033629.6(TREX1):c.50T>C (p.Phe17Ser)	ATRIP-TREX1, TREX1 +1 more (F17S +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	TREX1-related condition	GUncertain significance
Select item 2043105	NM_033629.6(TREX1):c.51C>T (p.Phe17=)	ATRIP, ATRIP-TREX1 +1 more	Single nucleotide variant (non-coding transcript variant +2 more)	Aicardi-Goutieres syndrome 1 +2 more	GLikely benign
Select item 4185	NM_033629.6(TREX1):c.52G>A (p.Asp18Asn)	ATRIP, ATRIP-TREX1 +1 more (D18N +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Aicardi-Goutieres syndrome 1 +3 more	GPathogenic
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 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 1980310	NM_033629.6(TREX1):c.55A>G (p.Met19Val)	ATRIP, ATRIP-TREX1 +1 more (M19V +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Aicardi-Goutieres syndrome 1 +2 more	GUncertain significance
Select item 1522624	NM_033629.6(TREX1):c.55A>C (p.Met19Leu)	ATRIP, ATRIP-TREX1 +1 more (M19L +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Chilblain lupus 1 +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 126390	NM_033629.6(TREX1):c.58dup (p.Glu20fs)	ATRIP, ATRIP-TREX1 +1 more (E20fs +1 more)	Duplication (non-coding transcript variant +2 more)	TREX1-related condition +5 more	GPathogenic
Select item 2115143	NM_033629.6(TREX1):c.60G>A (p.Glu20=)	ATRIP, ATRIP-TREX1 +1 more	Single nucleotide variant (non-coding transcript variant +2 more)	Aicardi-Goutieres syndrome 1 +2 more	GLikely benign
Select item 1423458	NM_033629.6(TREX1):c.61G>A (p.Ala21Thr)	ATRIP-TREX1, ATRIP +1 more (A21T +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Aicardi-Goutieres syndrome 1 +2 more	GUncertain significance
Select item 2007976	NM_033629.6(TREX1):c.63C>T (p.Ala21=)	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 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 2064116	NM_033629.6(TREX1):c.70T>C (p.Leu24=)	ATRIP, ATRIP-TREX1 +1 more	Single nucleotide variant (non-coding transcript variant +2 more)	Aicardi-Goutieres syndrome 1 +2 more	GLikely benign
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 964745	NM_033629.6(TREX1):c.73C>A (p.Pro25Thr)	ATRIP, ATRIP-TREX1 +1 more (P15T +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 2156828	NM_033629.6(TREX1):c.74C>T (p.Pro25Leu)	ATRIP, ATRIP-TREX1 +1 more (P25L +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Aicardi-Goutieres syndrome 1 +2 more	GUncertain significance
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 1339479	NM_033629.6(TREX1):c.79_96del (p.Ser27_Thr32del)	ATRIP, ATRIP-TREX1 +1 more	Deletion (non-coding transcript variant +2 more)	Aicardi-Goutieres syndrome 1	GLikely pathogenic
Select item 2627816	NM_033629.6(TREX1):c.82del (p.Gln28fs)	ATRIP, ATRIP-TREX1 +1 more (Q18fs +1 more)	Deletion (non-coding transcript variant +2 more)	Neurodevelopmental disorder	GLikely pathogenic
Select item 1423215	NM_033629.6(TREX1):c.80C>T (p.Ser27Phe)	ATRIP, ATRIP-TREX1 +1 more (S27F +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	TREX1-related condition +3 more	GUncertain significance
Select item 1149490	NM_033629.6(TREX1):c.81C>G (p.Ser27=)	ATRIP, ATRIP-TREX1 +1 more	Single nucleotide variant (non-coding transcript variant +2 more)	Aicardi-Goutieres syndrome 1 +2 more	GLikely benign
Select item 1429180	NM_033629.6(TREX1):c.83A>G (p.Gln28Arg)	ATRIP, ATRIP-TREX1 +1 more (Q28R +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Aicardi-Goutieres syndrome 1 +2 more	GUncertain significance
Select item 2653791	NM_033629.6(TREX1):c.84G>C (p.Gln28His)	ATRIP, ATRIP-TREX1 +1 more (Q18H +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Aicardi-Goutieres syndrome 1 +3 more	GUncertain significance
Select item 1379862	NM_033629.6(TREX1):c.85C>T (p.Pro29Ser)	TREX1, ATRIP +1 more (P19S +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Aicardi-Goutieres syndrome 1 +2 more	GUncertain significance
Select item 1950156	NM_033629.6(TREX1):c.88A>G (p.Lys30Glu)	ATRIP, ATRIP-TREX1 +1 more (K20E +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Aicardi-Goutieres syndrome 1 +2 more	GUncertain significance
Select item 1515760	NM_033629.6(TREX1):c.91G>A (p.Val31Ile)	TREX1, ATRIP +1 more (V21I +1 more)	Single nucleotide variant (missense variant +2 more)	Aicardi-Goutieres syndrome 1 +2 more	GUncertain significance
Select item 1018555	NM_033629.6(TREX1):c.95C>T (p.Thr32Met)	ATRIP, ATRIP-TREX1 +1 more (T22M +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified +3 more	GUncertain significance
Select item 2160083	NM_033629.6(TREX1):c.96G>A (p.Thr32=)	ATRIP, ATRIP-TREX1 +1 more	Single nucleotide variant (non-coding transcript variant +2 more)	Aicardi-Goutieres syndrome 1 +3 more	GLikely benign
Select item 1719365	NM_033629.6(TREX1):c.98A>T (p.Glu33Val)	ATRIP, ATRIP-TREX1 +1 more (E23V +1 more)	Single nucleotide variant (missense variant +2 more)	Aicardi-Goutieres syndrome 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 1515699	NM_033629.6(TREX1):c.112G>T (p.Ala38Ser)	ATRIP, ATRIP-TREX1 +1 more (A28S +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Aicardi-Goutieres syndrome 1 +2 more	GUncertain significance
Select item 1504947	NM_033629.6(TREX1):c.113C>T (p.Ala38Val)	ATRIP, ATRIP-TREX1 +1 more (A38V +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Aicardi-Goutieres syndrome 1 +2 more	GUncertain significance
Select item 872548	NM_033629.6(TREX1):c.120C>T (p.His40=)	ATRIP, ATRIP-TREX1 +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 1069943	NM_033629.6(TREX1):c.123_125dup (p.Cys42Ter)	ATRIP, ATRIP-TREX1 +1 more (C32* +1 more)	Duplication (non-coding transcript variant +2 more)	Chilblain lupus 1 +2 more	GPathogenic/Likely pathogenic
Select item 1686764	NM_033629.6(TREX1):c.125G>A (p.Cys42Tyr)	ATRIP, ATRIP-TREX1 +1 more (C32Y +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GUncertain significance
Select item 2124079	NM_033629.6(TREX1):c.126T>G (p.Cys42Trp)	ATRIP, ATRIP-TREX1 +1 more (C42W +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Aicardi-Goutieres syndrome 1 +2 more	GUncertain significance
Select item 1502085	NM_033629.6(TREX1):c.127G>A (p.Ala43Thr)	ATRIP, ATRIP-TREX1 +1 more (A33T +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Aicardi-Goutieres syndrome 1 +2 more	GUncertain significance
Select item 861797	NM_033629.6(TREX1):c.127G>T (p.Ala43Ser)	ATRIP, ATRIP-TREX1 +1 more (A43S +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Aicardi-Goutieres syndrome 1 +2 more	GUncertain significance
Select item 2921624	NM_033629.6(TREX1):c.130del (p.Leu44fs)	ATRIP, ATRIP-TREX1 +1 more (L34fs +1 more)	Deletion (3 prime UTR variant +2 more)	Aicardi-Goutieres syndrome 1 +2 more	GPathogenic
Select item 1617617	NM_033629.6(TREX1):c.132G>C (p.Leu44=)	ATRIP, ATRIP-TREX1 +1 more	Single nucleotide variant (non-coding transcript variant +2 more)	Aicardi-Goutieres syndrome 1 +2 more	GLikely benign
Select item 1299626	NM_033629.6(TREX1):c.137dup (p.Ser46fs)	ATRIP, ATRIP-TREX1 +1 more (S36fs +1 more)	Duplication (non-coding transcript variant +2 more)	Aicardi-Goutieres syndrome 1 +1 more	GPathogenic/Likely pathogenic
Select item 282766	NM_033629.6(TREX1):c.144dup (p.Thr49fs)	TREX1, ATRIP +1 more (T39fs +1 more)	Duplication (non-coding transcript variant +2 more)	Aicardi-Goutieres syndrome 1 +5 more	GPathogenic/Likely pathogenic
Select item 1667163	NM_033629.6(TREX1):c.138C>T (p.Ser46=)	ATRIP, ATRIP-TREX1 +1 more	Single nucleotide variant (non-coding transcript variant +2 more)	Aicardi-Goutieres syndrome 1 +2 more	GLikely benign
Select item 1216160	NM_033629.6(TREX1):c.144del (p.Thr49fs)	ATRIP, ATRIP-TREX1 +1 more (T39fs +1 more)	Deletion (non-coding transcript variant +2 more)	Aicardi-Goutieres syndrome 1 +3 more	GPathogenic/Likely pathogenic
Select item 983045	NM_033629.6(TREX1):c.143_144del (p.Pro48fs)	ATRIP, ATRIP-TREX1 +1 more (P38fs +1 more)	Deletion (non-coding transcript variant +2 more)	Aicardi-Goutieres syndrome 1	GLikely pathogenic

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