"GeneDx"[submitter] AND "TREX1"[gene] - ClinVar

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Items: 47

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1191674	NC_000003.12:g.48465783A>G	ATRIP, ATRIP-TREX1 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 345769	NM_033629.6(TREX1):c.-68T>C	ATRIP, ATRIP-TREX1 +1 more	Single nucleotide variant (non-coding transcript variant +3 more)	not provided +2 more	GBenign
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 953494	NM_033629.6(TREX1):c.23dup (p.Pro10fs)	ATRIP, ATRIP-TREX1 +1 more (P10fs)	Duplication (non-coding transcript variant +3 more)	not provided +3 more	GConflicting classifications of pathogenicity
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 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)	not provided +3 more	GPathogenic
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 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 1216160	NM_033629.6(TREX1):c.144del (p.Thr49fs)	ATRIP, ATRIP-TREX1 +1 more (T39fs +1 more)	Deletion (non-coding transcript variant +2 more)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 451039	NM_033629.6(TREX1):c.145A>G (p.Thr49Ala)	ATRIP, ATRIP-TREX1 +1 more (T49A +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GLikely benign
Select item 801965	NM_033629.6(TREX1):c.182C>A (p.Pro61Gln)	ATRIP, ATRIP-TREX1 +1 more (P61Q +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	See cases +2 more	GConflicting classifications of pathogenicity
Select item 957146	NM_033629.6(TREX1):c.197A>G (p.Lys66Arg)	ATRIP, ATRIP-TREX1 +1 more (K56R +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Aicardi-Goutieres syndrome 1 +4 more	GUncertain significance
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 448703	NM_033629.6(TREX1):c.219G>A (p.Pro73=)	ATRIP, ATRIP-TREX1 +1 more	Single nucleotide variant (non-coding transcript variant +2 more)	not specified +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 805682	NM_033629.6(TREX1):c.226G>T (p.Ala76Ser)	ATRIP, ATRIP-TREX1 +1 more (A66S +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Aicardi-Goutieres syndrome 1 +3 more	GUncertain significance
Select item 225499	NM_033629.6(TREX1):c.294dup (p.Cys99fs)	ATRIP, ATRIP-TREX1 +1 more (C99fs +1 more)	Duplication (frameshift variant +2 more)	Aicardi-Goutieres syndrome 1 +4 more	GConflicting classifications of pathogenicity
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 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)	Aicardi-Goutieres syndrome 1 +4 more	GConflicting classifications of pathogenicity
Select item 429418	NM_033629.6(TREX1):c.370C>G (p.His124Asp)	ATRIP, ATRIP-TREX1 +1 more (H124D +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GLikely pathogenic
Select item 4183	NM_033629.6(TREX1):c.375dup (p.Gly126fs)	ATRIP, ATRIP-TREX1 +1 more (G116fs +1 more)	Duplication (frameshift variant +2 more)	not provided	GLikely pathogenic
Select item 816849	NM_033629.6(TREX1):c.388G>A (p.Asp130Asn)	ATRIP, ATRIP-TREX1 +1 more (D120N +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Chilblain lupus 1 +3 more	GUncertain significance
Select item 451027	NM_033629.6(TREX1):c.388G>C (p.Asp130His)	ATRIP, ATRIP-TREX1 +1 more (D130H +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GLikely pathogenic
Select item 423827	NM_033629.6(TREX1):c.391T>G (p.Phe131Val)	ATRIP, ATRIP-TREX1 +1 more (F131V +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Aicardi-Goutieres syndrome 1 +3 more	GUncertain significance
Select item 126387	NM_033629.6(TREX1):c.393_408dup (p.Glu137fs)	ATRIP, ATRIP-TREX1 +1 more (E127fs +1 more)	Duplication (non-coding transcript variant +2 more)	not provided	GLikely pathogenic
Select item 843202	NM_033629.6(TREX1):c.416del (p.Ala139fs)	ATRIP, ATRIP-TREX1 +1 more (A129fs +1 more)	Deletion (non-coding transcript variant +2 more)	Aicardi-Goutieres syndrome 1 +3 more	GPathogenic
Select item 1187990	NM_033629.6(TREX1):c.427_429dup (p.Leu143_Thr144insLeu)	ATRIP-TREX1, TREX1 +1 more	Duplication (non-coding transcript variant +2 more)	not provided	GUncertain significance
Select item 1304087	NM_033629.6(TREX1):c.467_469dup (p.Ile156_Thr157insIle)	ATRIP, ATRIP-TREX1 +1 more	Duplication (non-coding transcript variant +2 more)	Aicardi-Goutieres syndrome 1 +3 more	GUncertain significance
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 4180	NM_033629.6(TREX1):c.490C>T (p.Arg164Ter)	ATRIP, ATRIP-TREX1 +1 more (R164* +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 1354266	NM_033629.6(TREX1):c.526A>G (p.Ser176Gly)	ATRIP, ATRIP-TREX1 +1 more (S176G +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided +3 more	GUncertain significance
Select item 96241	NM_033629.6(TREX1):c.531= (p.Tyr177=)	TREX1, ATRIP-TREX1 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations +5 more	GBenign
Select item 4181	NM_033629.6(TREX1):c.599_601dup (p.Asp200dup)	ATRIP, ATRIP-TREX1 +1 more	Duplication (non-coding transcript variant +2 more)	not provided +3 more	GLikely pathogenic
Select item 381689	NM_033629.6(TREX1):c.667G>A (p.Ala223Thr)	ATRIP, ATRIP-TREX1 +1 more (A223T +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Aicardi-Goutieres syndrome 1 +4 more	GConflicting classifications of pathogenicity
Select item 429942	NM_033629.6(TREX1):c.695T>G (p.Met232Arg)	TREX1, ATRIP +1 more (M232R +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided +3 more	GUncertain significance
Select item 449514	NM_033629.6(TREX1):c.703dup (p.Val235fs)	ATRIP-TREX1, TREX1 +1 more (V225fs +1 more)	Duplication (frameshift variant +2 more)	Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations +3 more	GPathogenic
Select item 586841	NM_033629.6(TREX1):c.720G>C (p.Arg240Ser)	ATRIP, ATRIP-TREX1 +1 more (R240S +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Aicardi-Goutieres syndrome 1 +4 more	GConflicting classifications of pathogenicity
Select item 967038	NM_033629.6(TREX1):c.728C>G (p.Pro243Arg)	ATRIP-TREX1, TREX1 +1 more (P233R +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Inborn genetic diseases +4 more	GUncertain significance
Select item 504468	NM_033629.6(TREX1):c.748dup (p.Thr250fs)	ATRIP, ATRIP-TREX1 +1 more (T240fs +1 more)	Duplication (non-coding transcript variant +2 more)	not provided	GLikely pathogenic
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)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 1410851	NM_033629.6(TREX1):c.802del (p.Arg268fs)	ATRIP, ATRIP-TREX1 +1 more (R258fs +1 more)	Deletion (non-coding transcript variant +2 more)	Aicardi-Goutieres syndrome 1 +3 more	GConflicting classifications of pathogenicity
Select item 1344583	NM_033629.6(TREX1):c.830_833dup (p.Asp278fs)	ATRIP, ATRIP-TREX1 +1 more (D268fs +1 more)	Duplication (non-coding transcript variant +2 more)	not provided	GLikely pathogenic
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 624024	NM_033629.6(TREX1):c.914A>G (p.Tyr305Cys)	ATRIP, ATRIP-TREX1 +1 more (Y305C +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	TREX1-related disorder +5 more	GUncertain significance
Select item 345780	NM_033629.6(TREX1):c.*37T>C	TREX1, ATRIP +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations +2 more	GBenign
Select item 1273880	NC_000003.12:g.48467792_48467796dup	TREX1	Duplication	not provided	GBenign
Select item 253356	GRCh37/hg19 3p22.2-21.31(chr3:37028313-49929220)x3	ABHD5, ACAA1 +177 more	Copy number gain	See cases	GLikely pathogenic

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Items: 47