ATRIP (ATR interacting protein) - Rat Genome Database

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Gene: ATRIP (ATR interacting protein) Homo sapiens
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Symbol: ATRIP
Name: ATR interacting protein
RGD ID: 1625848
Description: This gene represents naturally occurring read-through transcription between adjacent genes ATRIP (ATR-interacting protein) and TREX1 (three-prime repair exonuclease 1). The read-through transcript does not encode a protein. [provided by RefSeq, Jan 2018]
Type: ncrna (Ensembl: protein-coding)
RefSeq Status: VALIDATED
Previously known as: ATM and Rad3-related-interacting protein; ATR-interacting protein; DKFZp762J2115; FLJ12343; MGC20625; MGC21482; MGC26740
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38348,446,779 - 48,467,645 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl348,446,710 - 48,467,645 (+)EnsemblGRCh38hg38GRCh38
GRCh37348,488,183 - 48,509,044 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36348,463,222 - 48,482,058 (+)NCBINCBI36Build 36hg18NCBI36
Celera348,438,989 - 48,457,913 (+)NCBICelera
Cytogenetic Map3p21.31NCBI
HuRef348,542,265 - 48,561,084 (+)NCBIHuRef
CHM1_1348,440,399 - 48,459,354 (+)NCBICHM1_1
T2T-CHM13v2.0348,474,787 - 48,495,650 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
aflatoxin B1  (EXP)

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
2. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:10391904   PMID:11278605  


Genomics

Comparative Map Data
ATRIP
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38348,446,779 - 48,467,645 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl348,446,710 - 48,467,645 (+)EnsemblGRCh38hg38GRCh38
GRCh37348,488,183 - 48,509,044 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36348,463,222 - 48,482,058 (+)NCBINCBI36Build 36hg18NCBI36
Celera348,438,989 - 48,457,913 (+)NCBICelera
Cytogenetic Map3p21.31NCBI
HuRef348,542,265 - 48,561,084 (+)NCBIHuRef
CHM1_1348,440,399 - 48,459,354 (+)NCBICHM1_1
T2T-CHM13v2.0348,474,787 - 48,495,650 (+)NCBIT2T-CHM13v2.0
Gm53191
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm399108,887,001 - 108,903,165 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl9108,887,001 - 108,903,192 (-)EnsemblGRCm39 Ensembl
GRCm389109,057,933 - 109,074,097 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl9109,057,933 - 109,074,124 (-)EnsemblGRCm38mm10GRCm38
MGSCv379108,962,261 - 108,976,638 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv369108,917,155 - 108,931,517 (-)NCBIMGSCv36mm8
Celera9108,618,529 - 108,632,920 (-)NCBICelera
Cytogenetic Map9F2NCBI
Atrip
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr88118,586,909 - 118,600,975 (-)NCBIGRCr8
mRatBN7.28109,708,440 - 109,722,511 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl8109,708,440 - 109,722,477 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx8115,323,329 - 115,337,354 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.08113,522,503 - 113,536,528 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.08111,365,310 - 111,379,335 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.08117,797,954 - 117,811,989 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl8117,797,842 - 117,811,975 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.08117,149,699 - 117,163,734 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.48114,073,321 - 114,087,356 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera8108,999,733 - 109,013,768 (-)NCBICelera
Cytogenetic Map8q32NCBI
Atrip
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955532516,753 - 533,498 (+)EnsemblChiLan1.0
ChiLan1.0NW_004955532516,772 - 533,774 (+)NCBIChiLan1.0ChiLan1.0
ATRIP
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2248,421,608 - 48,440,530 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1348,426,376 - 48,445,271 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0348,368,775 - 48,387,698 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1349,450,861 - 49,469,351 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl349,450,991 - 49,469,351 (+)Ensemblpanpan1.1panPan2
Atrip
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440560263,484,606 - 63,503,959 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936529245,092 - 264,351 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936529245,134 - 264,456 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ATRIP
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1331,159,843 - 31,178,715 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11331,159,849 - 31,178,716 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21334,563,866 - 34,575,045 (-)NCBISscrofa10.2Sscrofa10.2susScr3
ATRIP
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1229,849,439 - 9,869,654 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl229,849,570 - 9,869,553 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_023666041157,221,552 - 157,242,316 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Atrip
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247302,413,014 - 2,430,827 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247302,413,474 - 2,431,012 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in ATRIP
669 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 3p21.31-21.2(chr3:45879883-50749922)x4 copy number gain See cases [RCV000133650] Chr3:45879883..50749922 [GRCh38]
Chr3:45921375..50787353 [GRCh37]
Chr3:45896379..50762357 [NCBI36]
Chr3:3p21.31-21.2		 pathogenic
NM_130384.3(ATRIP):c.2278C>T (p.Arg760Ter) single nucleotide variant not provided [RCV000144698] Chr3:48465053 [GRCh38]
Chr3:48506452 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.23C>T (p.Pro8Leu) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV001367616]|Inborn genetic diseases [RCV002547874] Chr3:48466678 [GRCh38]
Chr3:48508077 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.243_246del (p.Ser82fs) microsatellite Aicardi-Goutieres syndrome 1 [RCV001169857] Chr3:48466894..48466897 [GRCh38]
Chr3:48508293..48508296 [GRCh37]
Chr3:3p21.31		 pathogenic
NM_130384.3(ATRIP):c.783C>A (p.His261Gln) single nucleotide variant not provided [RCV003738429]|not specified [RCV004331121] Chr3:48457370 [GRCh38]
Chr3:48498770 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.623G>A (p.Cys208Tyr) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV003791018] Chr3:48467278 [GRCh38]
Chr3:48508677 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_130384.3(ATRIP):c.1754G>A (p.Cys585Tyr) single nucleotide variant not specified [RCV004683386] Chr3:48463753 [GRCh38]
Chr3:48505152 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.427_429dup (p.Leu143_Thr144insLeu) duplication not provided [RCV001547617] Chr3:48467080..48467081 [GRCh38]
Chr3:48508479..48508480 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.846A>G (p.Leu282=) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV001145806]|Aicardi-Goutieres syndrome 1 [RCV001403819]|Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations [RCV001145807] Chr3:48467501 [GRCh38]
Chr3:48508900 [GRCh37]
Chr3:3p21.31		 likely benign|uncertain significance
NM_130384.3(ATRIP):c.336C>T (p.Phe112=) single nucleotide variant not provided [RCV000923094] Chr3:48450125 [GRCh38]
Chr3:48491531 [GRCh37]
Chr3:3p21.31		 benign
NM_033629.6(TREX1):c.429C>T (p.Leu143=) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV000951190]|TREX1-related disorder [RCV004543569] Chr3:48467084 [GRCh38]
Chr3:48508483 [GRCh37]
Chr3:3p21.31		 likely benign
NM_130384.3(ATRIP):c.1974+8C>T single nucleotide variant not provided [RCV000924028] Chr3:48464140 [GRCh38]
Chr3:48505539 [GRCh37]
Chr3:3p21.31		 likely benign
NM_130384.3(ATRIP):c.2235G>A (p.Leu745=) single nucleotide variant not provided [RCV000900865] Chr3:48465010 [GRCh38]
Chr3:48506409 [GRCh37]
Chr3:3p21.31		 benign
NM_130384.3(ATRIP):c.1172G>A (p.Arg391Gln) single nucleotide variant ATRIP-related disorder [RCV003958166]|not provided [RCV000902621] Chr3:48460226 [GRCh38]
Chr3:48501625 [GRCh37]
Chr3:3p21.31		 likely benign
NM_130384.3(ATRIP):c.720A>G (p.Pro240=) single nucleotide variant not provided [RCV000943324] Chr3:48457307 [GRCh38]
Chr3:48498707 [GRCh37]
Chr3:3p21.31		 likely benign
NM_033629.6(TREX1):c.339G>A (p.Arg113=) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV000945539]|TREX1-related disorder [RCV004543539] Chr3:48466994 [GRCh38]
Chr3:48508393 [GRCh37]
Chr3:3p21.31		 likely benign
NM_130384.3(ATRIP):c.1248C>T (p.Ala416=) single nucleotide variant not provided [RCV000923634] Chr3:48460302 [GRCh38]
Chr3:48501701 [GRCh37]
Chr3:3p21.31		 likely benign
NM_130384.3(ATRIP):c.373A>C (p.Lys125Gln) single nucleotide variant not provided [RCV000884499] Chr3:48450162 [GRCh38]
Chr3:48491568 [GRCh37]
Chr3:3p21.31		 benign
NM_033629.6(TREX1):c.894C>T (p.Thr298=) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV000882360] Chr3:48467549 [GRCh38]
Chr3:48508948 [GRCh37]
Chr3:3p21.31		 likely benign
NM_033629.6(TREX1):c.627G>A (p.Gln209=) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV000970587] Chr3:48467282 [GRCh38]
Chr3:48508681 [GRCh37]
Chr3:3p21.31		 likely benign
NM_130384.3(ATRIP):c.2215A>T (p.Met739Leu) single nucleotide variant not provided [RCV000906507] Chr3:48464990 [GRCh38]
Chr3:48506389 [GRCh37]
Chr3:3p21.31		 likely benign
NM_130384.3(ATRIP):c.2131G>A (p.Asp711Asn) single nucleotide variant not provided [RCV000960244] Chr3:48464906 [GRCh38]
Chr3:48506305 [GRCh37]
Chr3:3p21.31		 likely benign
NM_130384.3(ATRIP):c.1467C>T (p.Ser489=) single nucleotide variant not provided [RCV000899901] Chr3:48460521 [GRCh38]
Chr3:48501920 [GRCh37]
Chr3:3p21.31		 benign
NM_130384.3(ATRIP):c.2105G>A (p.Arg702Gln) single nucleotide variant not provided [RCV000951252] Chr3:48464880 [GRCh38]
Chr3:48506279 [GRCh37]
Chr3:3p21.31		 benign
NM_130384.3(ATRIP):c.1834C>T (p.Leu612=) single nucleotide variant not provided [RCV000964914] Chr3:48463833 [GRCh38]
Chr3:48505232 [GRCh37]
Chr3:3p21.31		 benign
NM_033629.6(TREX1):c.535C>T (p.Leu179=) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV003768903] Chr3:48467190 [GRCh38]
Chr3:48508589 [GRCh37]
Chr3:3p21.31		 likely benign
NM_033629.6(TREX1):c.474G>A (p.Ala158=) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV002541023] Chr3:48467129 [GRCh38]
Chr3:48508528 [GRCh37]
Chr3:3p21.31		 likely benign
NM_130384.3(ATRIP):c.219A>G (p.Gln73=) single nucleotide variant not provided [RCV000922804] Chr3:48447064 [GRCh38]
Chr3:48488468 [GRCh37]
Chr3:3p21.31		 likely benign
NM_033629.6(TREX1):c.416del (p.Ala139fs) deletion Aicardi-Goutieres syndrome 1 [RCV001045764]|Aicardi-Goutieres syndrome 1 [RCV002282434]|not provided [RCV001567593] Chr3:48467071 [GRCh38]
Chr3:48508470 [GRCh37]
Chr3:3p21.31		 pathogenic|likely pathogenic
NM_033629.6(TREX1):c.191T>C (p.Val64Ala) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV001048363] Chr3:48466846 [GRCh38]
Chr3:48508245 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.247G>A (p.Glu83Lys) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV001051073]|Inborn genetic diseases [RCV004031585] Chr3:48466902 [GRCh38]
Chr3:48508301 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.236_243del (p.Pro79fs) microsatellite Aicardi-Goutieres syndrome 1 [RCV001054687] Chr3:48466882..48466889 [GRCh38]
Chr3:48508281..48508288 [GRCh37]
Chr3:3p21.31		 pathogenic
NM_033629.6(TREX1):c.127G>T (p.Ala43Ser) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV001068389] Chr3:48466782 [GRCh38]
Chr3:48508181 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.757C>G (p.His253Asp) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV001069745] Chr3:48467412 [GRCh38]
Chr3:48508811 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.294dup (p.Cys99fs) duplication Aicardi-Goutieres syndrome 1 [RCV000490271]|Aicardi-Goutieres syndrome 1 [RCV000806372]|not provided [RCV001008124] Chr3:48466947..48466948 [GRCh38]
Chr3:48508346..48508347 [GRCh37]
Chr3:3p21.31		 pathogenic|likely pathogenic|likely benign
NM_033629.6(TREX1):c.312G>C (p.Leu104=) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV000278897]|Aicardi-Goutieres syndrome 1 [RCV000887494]|Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations [RCV000317526]|TREX1-related disorder [RCV004544643] Chr3:48466967 [GRCh38]
Chr3:48508366 [GRCh37]
Chr3:3p21.31		 likely benign|uncertain significance
NM_033629.6(TREX1):c.462T>C (p.Asp154=) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV000307455]|Aicardi-Goutieres syndrome 1 [RCV000544168]|Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations [RCV000402965]|not provided [RCV001795963]|not specified [RCV001530084] Chr3:48467117 [GRCh38]
Chr3:48508516 [GRCh37]
Chr3:3p21.31		 benign|likely benign
NM_033629.6(TREX1):c.-100C>T single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV000407940]|Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations [RCV000279224] Chr3:48466236 [GRCh38]
Chr3:48507635 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.599_601dup (p.Asp200dup) duplication Aicardi-Goutieres syndrome 1 [RCV000004399]|Aicardi-Goutieres syndrome 1 [RCV001063407]|not provided [RCV001794431] Chr3:48467251..48467252 [GRCh38]
Chr3:48508650..48508651 [GRCh37]
Chr3:3p21.31		 pathogenic|likely pathogenic
NM_033629.6(TREX1):c.899C>T (p.Ala300Val) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV000547786] Chr3:48467554 [GRCh38]
Chr3:48508953 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.4(TREX1):c.-117C>T single nucleotide variant Aicardi Goutieres syndrome [RCV000282621]|Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations [RCV000337669] Chr3:48466219 [GRCh38]
Chr3:48507618 [GRCh37]
Chr3:3p21.31		 likely benign
NM_033629.6(TREX1):c.32T>G (p.Met11Arg) single nucleotide variant not provided [RCV000762113] Chr3:48466687 [GRCh38]
Chr3:48508086 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.914A>G (p.Tyr305Cys) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV001246998]|Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy [RCV002282361]|TREX1-related disorder [RCV004535893]|Vascular dementia [RCV002051725]|not provided [RCV000762114]|not specified [RCV004689877] Chr3:48467569 [GRCh38]
Chr3:48508968 [GRCh37]
Chr3:3p21.31		 likely pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_033629.6(TREX1):c.609_662dup (p.Ala221_His222insLeuLeuSerIleCysGlnTrpArgProGlnAlaLeuLeuArgTrpValAspAla) duplication Aicardi-Goutieres syndrome 1 [RCV000114332] Chr3:48467261..48467262 [GRCh38]
Chr3:48508660..48508661 [GRCh37]
Chr3:3p21.31		 pathogenic|not provided
NM_033629.6(TREX1):c.198G>A (p.Lys66=) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV000265759]|Aicardi-Goutieres syndrome 1 [RCV000533810]|Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations [RCV000318491]|not provided [RCV004716072]|not specified [RCV000516659] Chr3:48466853 [GRCh38]
Chr3:48508252 [GRCh37]
Chr3:3p21.31		 benign|likely benign
NM_033629.6(TREX1):c.145A>G (p.Thr49Ala) single nucleotide variant not provided [RCV001722444] Chr3:48466800 [GRCh38]
Chr3:48508199 [GRCh37]
Chr3:3p21.31		 likely benign|uncertain significance
NM_033629.4(TREX1):c.-510delC deletion Aicardi Goutieres syndrome [RCV000368756]|Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations [RCV000273941] Chr3:48465825 [GRCh38]
Chr3:48507224 [GRCh37]
Chr3:3p21.31		 likely benign
NM_033629.6(TREX1):c.391T>G (p.Phe131Val) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV001368721]|not provided [RCV000484763] Chr3:48467046 [GRCh38]
Chr3:48508445 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.4(TREX1):c.-206G>T single nucleotide variant Aicardi Goutieres syndrome [RCV000325692]|Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations [RCV000270579] Chr3:48466130 [GRCh38]
Chr3:48507529 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.869C>T (p.Pro290Leu) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV000698766]|not specified [RCV004586889] Chr3:48467524 [GRCh38]
Chr3:48508923 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.581del (p.Ser194fs) deletion Aicardi-Goutieres syndrome 1 [RCV000754080] Chr3:48467236 [GRCh38]
Chr3:48508635 [GRCh37]
Chr3:3p21.31		 pathogenic
NM_130384.3(ATRIP):c.1855C>T (p.Leu619=) single nucleotide variant not provided [RCV000910257] Chr3:48463854 [GRCh38]
Chr3:48505253 [GRCh37]
Chr3:3p21.31		 likely benign
NM_033629.6(TREX1):c.303T>C (p.Asp101=) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV001451213]|not provided [RCV004711431] Chr3:48466958 [GRCh38]
Chr3:48508357 [GRCh37]
Chr3:3p21.31		 likely benign
NM_130384.3(ATRIP):c.1476C>T (p.Val492=) single nucleotide variant ATRIP-related disorder [RCV003922897]|not provided [RCV000897833] Chr3:48460530 [GRCh38]
Chr3:48501929 [GRCh37]
Chr3:3p21.31		 likely benign
NM_033629.6(TREX1):c.843C>T (p.Ala281=) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV000953473] Chr3:48467498 [GRCh38]
Chr3:48508897 [GRCh37]
Chr3:3p21.31		 benign
NM_130384.3(ATRIP):c.1098T>C (p.Tyr366=) single nucleotide variant not provided [RCV000938166] Chr3:48460152 [GRCh38]
Chr3:48501551 [GRCh37]
Chr3:3p21.31		 likely benign
NM_033629.6(TREX1):c.27G>T (p.Gly9=) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV002065721] Chr3:48466682 [GRCh38]
Chr3:48508081 [GRCh37]
Chr3:3p21.31		 likely benign
NM_130384.3(ATRIP):c.762T>C (p.Ser254=) single nucleotide variant not provided [RCV000898538] Chr3:48457349 [GRCh38]
Chr3:48498749 [GRCh37]
Chr3:3p21.31		 likely benign
NM_033629.6(TREX1):c.933A>G (p.Thr311=) single nucleotide variant not provided [RCV000909710] Chr3:48467588 [GRCh38]
Chr3:48508987 [GRCh37]
Chr3:3p21.31		 likely benign
NM_033629.6(TREX1):c.250A>G (p.Ile84Val) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV000801550]|Aicardi-Goutieres syndrome 1 [RCV002495072] Chr3:48466905 [GRCh38]
Chr3:48508304 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.625_628dup (p.Trp210fs) duplication Aicardi-Goutieres syndrome 1 [RCV000114333] Chr3:48467277..48467278 [GRCh38]
Chr3:48508676..48508677 [GRCh37]
Chr3:3p21.31		 pathogenic|not provided
NM_033629.6(TREX1):c.370C>G (p.His124Asp) single nucleotide variant not provided [RCV000494618] Chr3:48467025 [GRCh38]
Chr3:48508424 [GRCh37]
Chr3:3p21.31		 likely pathogenic
NM_033629.6(TREX1):c.394C>G (p.Pro132Ala) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV000393710]|Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations [RCV000348530]|not specified [RCV004782369] Chr3:48467049 [GRCh38]
Chr3:48508448 [GRCh37]
Chr3:3p21.31		 likely benign|uncertain significance
NM_033629.4(TREX1):c.-199A>G single nucleotide variant Aicardi Goutieres syndrome [RCV000285987]|Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations [RCV000380457] Chr3:48466137 [GRCh38]
Chr3:48507536 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.418A>G (p.Met140Val) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV000290171]|Aicardi-Goutieres syndrome 1 [RCV000813186]|Inborn genetic diseases [RCV004021919]|Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations [RCV000347510] Chr3:48467073 [GRCh38]
Chr3:48508472 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.797A>G (p.Glu266Gly) single nucleotide variant Aicardi Goutieres syndrome [RCV000300719]|Aicardi-Goutieres syndrome 1 [RCV001082165]|Aicardi-Goutieres syndrome 1 [RCV002281915]|Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations [RCV000262094]|TREX1-related disorder [RCV004732658]|not provided [RCV000431072]|not specified [RCV000082325] Chr3:48467452 [GRCh38]
Chr3:48508851 [GRCh37]
Chr3:3p21.31		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_033629.6(TREX1):c.536T>C (p.Leu179Pro) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV000302094]|Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations [RCV000359123] Chr3:48467191 [GRCh38]
Chr3:48508590 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.703dup (p.Val235fs) duplication Aicardi-Goutieres syndrome 1 [RCV000795266]|Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations [RCV000004403]|not provided [RCV000519088] Chr3:48467354..48467355 [GRCh38]
Chr3:48508753..48508754 [GRCh37]
Chr3:3p21.31		 pathogenic
NM_033629.4(TREX1):c.-287C>T single nucleotide variant Aicardi Goutieres syndrome [RCV000329267]|Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations [RCV000365197] Chr3:48466049 [GRCh38]
Chr3:48507448 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.338G>A (p.Arg113Gln) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV002532223] Chr3:48466993 [GRCh38]
Chr3:48508392 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.382C>T (p.Arg128Cys) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV000644052]|TREX1-related disorder [RCV004527704] Chr3:48467037 [GRCh38]
Chr3:48508436 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.152_153del (p.Gln51fs) deletion not provided [RCV000318517] Chr3:48466807..48466808 [GRCh38]
Chr3:48508206..48508207 [GRCh37]
Chr3:3p21.31		 pathogenic
NM_033629.6(TREX1):c.218C>T (p.Pro73Leu) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV000626116]|Aicardi-Goutieres syndrome 1 [RCV000764509]|Aicardi-Goutieres syndrome 1 [RCV001219467]|not provided [RCV000656254] Chr3:48466873 [GRCh38]
Chr3:48508272 [GRCh37]
Chr3:3p21.31		 pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_033629.6(TREX1):c.912G>A (p.Leu304=) single nucleotide variant Aicardi Goutieres syndrome [RCV000260731]|Aicardi-Goutieres syndrome 1 [RCV000537156]|Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations [RCV000353208]|not provided [RCV001795465]|not specified [RCV000242644] Chr3:48467567 [GRCh38]
Chr3:48508966 [GRCh37]
Chr3:3p21.31		 benign|likely benign
NM_033629.6(TREX1):c.602T>A (p.Val201Asp) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV000004400]|not provided [RCV001093076] Chr3:48467257 [GRCh38]
Chr3:48508656 [GRCh37]
Chr3:3p21.31		 pathogenic
NM_033629.6(TREX1):c.400C>T (p.Leu134Phe) single nucleotide variant Inborn genetic diseases [RCV004678650]|not provided [RCV000224613] Chr3:48467055 [GRCh38]
Chr3:48508454 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.*37T>C single nucleotide variant Aicardi Goutieres syndrome [RCV000332317]|Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations [RCV000386027]|not provided [RCV001672632] Chr3:48467637 [GRCh38]
Chr3:48509036 [GRCh37]
Chr3:3p21.31		 benign
NM_033629.6(TREX1):c.598G>A (p.Asp200Asn) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV000114331]|Aicardi-Goutieres syndrome 1 [RCV002512754]|Aicardi-Goutieres syndrome 1, autosomal dominant [RCV000004402] Chr3:48467253 [GRCh38]
Chr3:48508652 [GRCh37]
Chr3:3p21.31		 pathogenic
NM_033629.6(TREX1):c.52G>A (p.Asp18Asn) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV000114329]|Aicardi-Goutieres syndrome 1 [RCV000819829]|Aicardi-Goutieres syndrome 1, autosomal dominant [RCV000004405]|Chilblain lupus [RCV001804150]|not provided [RCV000323773] Chr3:48466707 [GRCh38]
Chr3:48508106 [GRCh37]
Chr3:3p21.31		 pathogenic|not provided
NM_033629.6(TREX1):c.703_706dup (p.Thr236fs) duplication Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations [RCV000004406] Chr3:48467357..48467358 [GRCh38]
Chr3:48508756..48508757 [GRCh37]
Chr3:3p21.31		 pathogenic
NM_033629.6(TREX1):c.531= (p.Tyr177=) single nucleotide variant Aicardi Goutieres syndrome [RCV000405847]|Aicardi-Goutieres syndrome 1 [RCV001511091]|Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations [RCV000341237]|not provided [RCV000713867]|not specified [RCV000082324] Chr3:48467186 [GRCh38]
Chr3:48508585 [GRCh37]
Chr3:3p21.31		 benign
NM_033629.6(TREX1):c.340C>T (p.Arg114Cys) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV000191136]|Aicardi-Goutieres syndrome 1 [RCV000763111]|Aicardi-Goutieres syndrome 1 [RCV001857680]|TREX1-related disorder [RCV004732774]|not provided [RCV001843490] Chr3:48466995 [GRCh38]
Chr3:48508394 [GRCh37]
Chr3:3p21.31		 likely pathogenic|uncertain significance
NM_033629.6(TREX1):c.-26-110G>A single nucleotide variant not provided [RCV000713866] Chr3:48466520 [GRCh38]
Chr3:48507919 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.635del (p.Pro212fs) deletion Aicardi-Goutieres syndrome 1 [RCV003768447]|TREX1-related disorder [RCV000779412] Chr3:48467289 [GRCh38]
Chr3:48508688 [GRCh37]
Chr3:3p21.31		 pathogenic|likely pathogenic
NM_033629.6(TREX1):c.365T>C (p.Val122Ala) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV000114324] Chr3:48467020 [GRCh38]
Chr3:48508419 [GRCh37]
Chr3:3p21.31		 pathogenic|not provided
NM_033629.6(TREX1):c.366_368dup (p.Ala123_His124insAla) duplication Aicardi-Goutieres syndrome 1 [RCV000114325]|Aicardi-Goutieres syndrome 1 [RCV000850612] Chr3:48467020..48467021 [GRCh38]
Chr3:48508419..48508420 [GRCh37]
Chr3:3p21.31		 pathogenic|not provided
NM_033629.6(TREX1):c.9G>A (p.Ser3=) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV000364247]|Aicardi-Goutieres syndrome 1 [RCV000952205]|Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations [RCV000267295]|TREX1-related disorder [RCV004544641] Chr3:48466664 [GRCh38]
Chr3:48508063 [GRCh37]
Chr3:3p21.31		 benign|likely benign|uncertain significance
NM_033629.6(TREX1):c.183G>A (p.Pro61=) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV000324543]|Aicardi-Goutieres syndrome 1 [RCV000644056]|Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations [RCV000358290]|TREX1-related disorder [RCV004544642] Chr3:48466838 [GRCh38]
Chr3:48508237 [GRCh37]
Chr3:3p21.31		 benign|likely benign|uncertain significance
NM_033629.6(TREX1):c.690G>C (p.Arg230Ser) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV002533485] Chr3:48467345 [GRCh38]
Chr3:48508744 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.748dup (p.Thr250fs) duplication not provided [RCV000598961] Chr3:48467401..48467402 [GRCh38]
Chr3:48508800..48508801 [GRCh37]
Chr3:3p21.31		 likely pathogenic
NM_033629.6(TREX1):c.667G>A (p.Ala223Thr) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV001330236]|Aicardi-Goutieres syndrome 1 [RCV001340342]|not provided [RCV000433529]|not specified [RCV004701472] Chr3:48467322 [GRCh38]
Chr3:48508721 [GRCh37]
Chr3:3p21.31		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_033629.6(TREX1):c.623G>C (p.Cys208Ser) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV000691299]|Aicardi-Goutieres syndrome 1 [RCV002282329]|Aicardi-Goutieres syndrome 1 [RCV002485645]|TREX1-related disorder [RCV004535720]|not provided [RCV001726303] Chr3:48467278 [GRCh38]
Chr3:48508677 [GRCh37]
Chr3:3p21.31		 likely benign|uncertain significance
NM_033629.6(TREX1):c.587C>T (p.Thr196Met) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV000644053] Chr3:48467242 [GRCh38]
Chr3:48508641 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.251T>C (p.Ile84Thr) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV000806591] Chr3:48466906 [GRCh38]
Chr3:48508305 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.695T>G (p.Met232Arg) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV001856971]|not provided [RCV000494190] Chr3:48467350 [GRCh38]
Chr3:48508749 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.508G>T (p.Glu170Ter) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV000761485] Chr3:48467163 [GRCh38]
Chr3:48508562 [GRCh37]
Chr3:3p21.31		 pathogenic
NM_033629.4(TREX1):c.-515T>C single nucleotide variant Aicardi Goutieres syndrome [RCV000314036]|Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations [RCV000277604] Chr3:48465821 [GRCh38]
Chr3:48507220 [GRCh37]
Chr3:3p21.31		 likely benign
NM_033629.6(TREX1):c.868_885del (p.Pro290_Ala295del) deletion Aicardi Goutieres syndrome [RCV003153362]|Aicardi-Goutieres syndrome 1 [RCV000114334]|Aicardi-Goutieres syndrome 1 [RCV000805420]|Aicardi-Goutieres syndrome 1 [RCV002490761]|Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations [RCV004595923]|TREX1-related disorder [RCV004529915]|not provided [RCV002262706] Chr3:48467514..48467531 [GRCh38]
Chr3:48508913..48508930 [GRCh37]
Chr3:3p21.31		 pathogenic|likely pathogenic
NM_033629.6(TREX1):c.907A>C (p.Thr303Pro) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV000114335]|Aicardi-Goutieres syndrome 1 [RCV002513943]|not provided [RCV003237442] Chr3:48467562 [GRCh38]
Chr3:48508961 [GRCh37]
Chr3:3p21.31		 pathogenic|uncertain significance|not provided
NM_033629.6(TREX1):c.341G>A (p.Arg114His) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV000004396]|Aicardi-Goutieres syndrome 1 [RCV000850611]|Aicardi-Goutieres syndrome 1 [RCV002281693]|Inborn genetic diseases [RCV001266495]|Systemic lupus erythematosus, susceptibility to [RCV000004397]|TREX1-related disorder [RCV004540989]|not provided [RCV000256102] Chr3:48466996 [GRCh38]
Chr3:48508395 [GRCh37]
Chr3:3p21.31		 pathogenic|likely pathogenic|risk factor|benign|likely benign
NM_033629.6(TREX1):c.490C>T (p.Arg164Ter) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV000004398]|Aicardi-Goutieres syndrome 1 [RCV001384591]|TREX1-related disorder [RCV004532286]|not provided [RCV000378411] Chr3:48467145 [GRCh38]
Chr3:48508544 [GRCh37]
Chr3:3p21.31		 pathogenic|likely pathogenic
NM_033629.6(TREX1):c.182C>A (p.Pro61Gln) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV000987264]|See cases [RCV002252278]|not provided [RCV001759678] Chr3:48466837 [GRCh38]
Chr3:48508236 [GRCh37]
Chr3:3p21.31		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_033629.6(TREX1):c.679G>A (p.Gly227Ser) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV001039343]|TREX1-related disorder [RCV004733016]|not provided [RCV000713868]|not specified [RCV001700451] Chr3:48467334 [GRCh38]
Chr3:48508733 [GRCh37]
Chr3:3p21.31		 benign|uncertain significance
NM_033629.6(TREX1):c.531T>C (p.Tyr177=) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV000558683]|not specified [RCV003403301] Chr3:48467186 [GRCh38]
Chr3:48508585 [GRCh37]
Chr3:3p21.31		 benign
NM_033629.6(TREX1):c.739G>C (p.Ala247Pro) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV000793452]|TREX1-related disorder [RCV004733017]|not provided [RCV000713870]|not specified [RCV004526760] Chr3:48467394 [GRCh38]
Chr3:48508793 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.144dup (p.Thr49fs) duplication Aicardi-Goutieres syndrome 1 [RCV001251136]|Aicardi-Goutieres syndrome 1 [RCV001859564]|Aicardi-Goutieres syndrome 1 [RCV002494829]|TREX1-related disorder [RCV004535288]|not provided [RCV000512682] Chr3:48466792..48466793 [GRCh38]
Chr3:48508191..48508192 [GRCh37]
Chr3:3p21.31		 pathogenic|likely pathogenic
NM_033629.6(TREX1):c.-68T>C single nucleotide variant Aicardi Goutieres syndrome [RCV000352883]|Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations [RCV000406520]|not provided [RCV000840618] Chr3:48466268 [GRCh38]
Chr3:48507667 [GRCh37]
Chr3:3p21.31		 benign
NM_033629.6(TREX1):c.212_213dup (p.Ala72fs) microsatellite Aicardi-Goutieres syndrome 1 [RCV000114323]|Aicardi-Goutieres syndrome 1 [RCV003764807]|not provided [RCV001781439] Chr3:48466860..48466861 [GRCh38]
Chr3:48508259..48508260 [GRCh37]
Chr3:3p21.31		 pathogenic|likely pathogenic|not provided
NM_033629.6(TREX1):c.500del (p.Ser167fs) deletion Aicardi-Goutieres syndrome 1 [RCV000114328]|Aicardi-Goutieres syndrome 1 [RCV002513942]|not provided [RCV000726332] Chr3:48467155 [GRCh38]
Chr3:48508554 [GRCh37]
Chr3:3p21.31		 pathogenic|not provided
NM_033629.6(TREX1):c.388G>C (p.Asp130His) single nucleotide variant not provided [RCV000522259] Chr3:48467043 [GRCh38]
Chr3:48508442 [GRCh37]
Chr3:3p21.31		 likely pathogenic
NM_033629.6(TREX1):c.393_408dup (p.Glu137fs) duplication Aicardi-Goutieres syndrome 1 [RCV000114326]|not provided [RCV002460916] Chr3:48467047..48467048 [GRCh38]
Chr3:48508446..48508447 [GRCh37]
Chr3:3p21.31		 pathogenic|likely pathogenic|not provided
NM_033629.6(TREX1):c.629G>A (p.Trp210Ter) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV000408633] Chr3:48467284 [GRCh38]
Chr3:48508683 [GRCh37]
Chr3:3p21.31		 pathogenic
NM_033629.6(TREX1):c.219G>A (p.Pro73=) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV002527552]|not provided [RCV003231629]|not specified [RCV000517608] Chr3:48466874 [GRCh38]
Chr3:48508273 [GRCh37]
Chr3:3p21.31		 likely benign|uncertain significance
NM_033629.6(TREX1):c.640G>A (p.Ala214Thr) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV000808229] Chr3:48467295 [GRCh38]
Chr3:48508694 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.-60C>T single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV000365442]|Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations [RCV000313118] Chr3:48466276 [GRCh38]
Chr3:48507675 [GRCh37]
Chr3:3p21.31		 likely benign
NM_033629.6(TREX1):c.829A>T (p.Lys277Ter) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV002528907] Chr3:48467484 [GRCh38]
Chr3:48508883 [GRCh37]
Chr3:3p21.31		 likely pathogenic
NM_033629.6(TREX1):c.484C>T (p.Leu162=) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV001407792] Chr3:48467139 [GRCh38]
Chr3:48508538 [GRCh37]
Chr3:3p21.31		 likely benign
NM_033629.6(TREX1):c.212_213del (p.Val71fs) microsatellite Aicardi-Goutieres syndrome 1 [RCV000191137]|Aicardi-Goutieres syndrome 1 [RCV001857681] Chr3:48466861..48466862 [GRCh38]
Chr3:48508260..48508261 [GRCh37]
Chr3:3p21.31		 pathogenic
NM_033629.6(TREX1):c.554G>A (p.Arg185His) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV001150035]|Aicardi-Goutieres syndrome 1 [RCV002032387]|Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations [RCV001150036] Chr3:48467209 [GRCh38]
Chr3:48508608 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.784C>T (p.Pro262Ser) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV000824226]|not provided [RCV003489918] Chr3:48467439 [GRCh38]
Chr3:48508838 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_130384.3(ATRIP):c.744T>A (p.Pro248=) single nucleotide variant not provided [RCV000897432] Chr3:48457331 [GRCh38]
Chr3:48498731 [GRCh37]
Chr3:3p21.31		 likely benign
NM_033629.6(TREX1):c.387C>T (p.Tyr129=) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV001414858]|not provided [RCV000893035] Chr3:48467042 [GRCh38]
Chr3:48508441 [GRCh37]
Chr3:3p21.31		 likely benign
NM_130384.3(ATRIP):c.2103G>A (p.Val701=) single nucleotide variant not provided [RCV000942049] Chr3:48464878 [GRCh38]
Chr3:48506277 [GRCh37]
Chr3:3p21.31		 likely benign
NM_033629.6(TREX1):c.290G>A (p.Arg97His) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV000490435]|Aicardi-Goutieres syndrome 1 [RCV001853392]|not provided [RCV001093075] Chr3:48466945 [GRCh38]
Chr3:48508344 [GRCh37]
Chr3:3p21.31		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_033629.6(TREX1):c.720G>C (p.Arg240Ser) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV001084349]|not provided [RCV000713869]|not specified [RCV003323699] Chr3:48467375 [GRCh38]
Chr3:48508774 [GRCh37]
Chr3:3p21.31		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_033629.6(TREX1):c.923C>G (p.Ser308Cys) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV000764510]|Aicardi-Goutieres syndrome 1 [RCV000812216]|Retinal dystrophy [RCV004816646]|TREX1-related disorder [RCV004732868]|not provided [RCV000416230] Chr3:48467578 [GRCh38]
Chr3:48508977 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.-26-1G>A single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV000779411]|TREX1-related disorder [RCV000785138]|not provided [RCV003320742]|not specified [RCV003330948] Chr3:48466629 [GRCh38]
Chr3:48508028 [GRCh37]
Chr3:3p21.31		 pathogenic|likely pathogenic|benign|uncertain significance
NM_033629.6(TREX1):c.-50CTGC[4] microsatellite Aicardi Goutieres syndrome [RCV000404565]|Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations [RCV000307137]|not provided [RCV004695747] Chr3:48466286..48466289 [GRCh38]
Chr3:48507685..48507688 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.397del (p.Leu133fs) deletion Aicardi-Goutieres syndrome 1 [RCV000114327] Chr3:48467048 [GRCh38]
Chr3:48508447 [GRCh37]
Chr3:3p21.31		 pathogenic|likely pathogenic
NM_033629.6(TREX1):c.58dup (p.Glu20fs) duplication Aicardi-Goutieres syndrome 1 [RCV000114330]|Aicardi-Goutieres syndrome 1 [RCV001384732]|TREX1-related disorder [RCV001731376]|not provided [RCV003137626] Chr3:48466711..48466712 [GRCh38]
Chr3:48508110..48508111 [GRCh37]
Chr3:3p21.31		 pathogenic
NM_033629.6(TREX1):c.299T>C (p.Phe100Ser) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV001862163]|Inborn genetic diseases [RCV002535100]|not provided [RCV000728986] Chr3:48466954 [GRCh38]
Chr3:48508353 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.734C>G (p.Pro245Arg) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV000820186] Chr3:48467389 [GRCh38]
Chr3:48508788 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.4(TREX1):c.-127G>C single nucleotide variant Aicardi Goutieres syndrome [RCV000322393]|Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations [RCV000376993] Chr3:48466209 [GRCh38]
Chr3:48507608 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.651G>A (p.Arg217=) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV000915247]|Aicardi-Goutieres syndrome 1 [RCV001143910]|Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations [RCV001143911] Chr3:48467306 [GRCh38]
Chr3:48508705 [GRCh37]
Chr3:3p21.31		 likely benign|uncertain significance
NM_033629.6(TREX1):c.346C>G (p.Pro116Ala) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV001145697]|Aicardi-Goutieres syndrome 1 [RCV001222016]|Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations [RCV001145696]|not provided [RCV000998068] Chr3:48467001 [GRCh38]
Chr3:48508400 [GRCh37]
Chr3:3p21.31		 likely benign|uncertain significance
NM_033629.6(TREX1):c.388G>A (p.Asp130Asn) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV001007852]|Aicardi-Goutieres syndrome 1 [RCV001231973]|not provided [RCV001759687] Chr3:48467043 [GRCh38]
Chr3:48508442 [GRCh37]
Chr3:3p21.31		 likely pathogenic|uncertain significance
NM_033629.6(TREX1):c.375dup (p.Gly126fs) duplication Chilblain lupus [RCV001804149]|not provided [RCV004719620] Chr3:48467029..48467030 [GRCh38]
Chr3:48508428..48508429 [GRCh37]
Chr3:3p21.31		 pathogenic|likely pathogenic
NM_033629.6(TREX1):c.908C>T (p.Thr303Ile) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV001202980] Chr3:48467563 [GRCh38]
Chr3:48508962 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.857G>A (p.Gly286Glu) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV001225702] Chr3:48467512 [GRCh38]
Chr3:48508911 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.23dup (p.Pro10fs) duplication Aicardi-Goutieres syndrome 1 [RCV001225792]|Aicardi-Goutieres syndrome 1 [RCV001291770]|Chilblain lupus 1 [RCV001291771]|TREX1-related disorder [RCV004733189]|not provided [RCV002462846] Chr3:48466673..48466674 [GRCh38]
Chr3:48508072..48508073 [GRCh37]
Chr3:3p21.31		 pathogenic|likely pathogenic|uncertain significance
NM_033629.6(TREX1):c.212T>C (p.Val71Ala) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV001205203] Chr3:48466867 [GRCh38]
Chr3:48508266 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.916G>A (p.Gly306Arg) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV001210409] Chr3:48467571 [GRCh38]
Chr3:48508970 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.728C>G (p.Pro243Arg) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV001241853]|Inborn genetic diseases [RCV004034694]|not provided [RCV001773546] Chr3:48467383 [GRCh38]
Chr3:48508782 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_130384.3(ATRIP):c.383T>C (p.Met128Thr) single nucleotide variant not specified [RCV004321426] Chr3:48451730 [GRCh38]
Chr3:48493136 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.1A>G (p.Met1Val) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV001863135]|Systemic lupus erythematosus [RCV001198990]|not provided [RCV001839030] Chr3:48466656 [GRCh38]
Chr3:48508055 [GRCh37]
Chr3:3p21.31		 likely pathogenic|uncertain significance
NM_033629.6(TREX1):c.649C>T (p.Arg217Trp) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV001150037]|Aicardi-Goutieres syndrome 1 [RCV001858981]|Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations [RCV001150038] Chr3:48467304 [GRCh38]
Chr3:48508703 [GRCh37]
Chr3:3p21.31		 benign|uncertain significance
NM_033629.6(TREX1):c.700G>T (p.Gly234Trp) single nucleotide variant not provided [RCV001090576] Chr3:48467355 [GRCh38]
Chr3:48508754 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_130384.3(ATRIP):c.24C>G (p.Gly8=) single nucleotide variant not provided [RCV003104484] Chr3:48446869 [GRCh38]
Chr3:48488273 [GRCh37]
Chr3:3p21.31		 likely benign
NM_130384.3(ATRIP):c.2344G>A (p.Asp782Asn) single nucleotide variant not provided [RCV003116826]|not specified [RCV004676175] Chr3:48465522 [GRCh38]
Chr3:48506921 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_130384.3(ATRIP):c.1686C>T (p.Thr562=) single nucleotide variant not provided [RCV003106910] Chr3:48460740 [GRCh38]
Chr3:48502139 [GRCh37]
Chr3:3p21.31		 likely benign
NM_130384.3(ATRIP):c.2056-12C>A single nucleotide variant not provided [RCV001694353] Chr3:48464819 [GRCh38]
Chr3:48506218 [GRCh37]
Chr3:3p21.31		 benign
NM_130384.3(ATRIP):c.1975-150T>G single nucleotide variant not provided [RCV001639930] Chr3:48464432 [GRCh38]
Chr3:48505831 [GRCh37]
Chr3:3p21.31		 benign
NC_000003.12:g.48465783A>G single nucleotide variant not provided [RCV001552845] Chr3:48465783 [GRCh38]
Chr3:48507182 [GRCh37]
Chr3:3p21.31		 likely benign
NM_033629.6(TREX1):c.720G>A (p.Arg240=) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV002077133]|not provided [RCV001703332]|not specified [RCV001699671] Chr3:48467375 [GRCh38]
Chr3:48508774 [GRCh37]
Chr3:3p21.31		 benign|likely benign
NM_130384.3(ATRIP):c.1141C>T (p.Leu381=) single nucleotide variant not provided [RCV000910581] Chr3:48460195 [GRCh38]
Chr3:48501594 [GRCh37]
Chr3:3p21.31		 likely benign
NM_033629.6(TREX1):c.21C>T (p.Pro7=) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV001504207] Chr3:48466676 [GRCh38]
Chr3:48508075 [GRCh37]
Chr3:3p21.31		 likely benign
NM_130384.3(ATRIP):c.2274C>T (p.Leu758=) single nucleotide variant ATRIP-related disorder [RCV003970704]|not provided [RCV000949689] Chr3:48465049 [GRCh38]
Chr3:48506448 [GRCh37]
Chr3:3p21.31		 benign
NM_130384.3(ATRIP):c.2163G>A (p.Arg721=) single nucleotide variant not provided [RCV000927780] Chr3:48464938 [GRCh38]
Chr3:48506337 [GRCh37]
Chr3:3p21.31		 likely benign
NM_130384.3(ATRIP):c.2056-8del deletion not provided [RCV000919040] Chr3:48464823 [GRCh38]
Chr3:48506222 [GRCh37]
Chr3:3p21.31		 likely benign
NM_130384.3(ATRIP):c.111C>T (p.Phe37=) single nucleotide variant ATRIP-related disorder [RCV003972939]|not provided [RCV000972702] Chr3:48446956 [GRCh38]
Chr3:48488360 [GRCh37]
Chr3:3p21.31		 benign
NM_130384.3(ATRIP):c.1366G>A (p.Val456Met) single nucleotide variant ATRIP-related disorder [RCV003922844]|not provided [RCV000895142] Chr3:48460420 [GRCh38]
Chr3:48501819 [GRCh37]
Chr3:3p21.31		 likely benign
NM_130384.3(ATRIP):c.1538T>C (p.Leu513Pro) single nucleotide variant not provided [RCV000895143] Chr3:48460592 [GRCh38]
Chr3:48501991 [GRCh37]
Chr3:3p21.31		 likely benign
NM_130384.3(ATRIP):c.2337G>A (p.Ala779=) single nucleotide variant not provided [RCV000954893] Chr3:48465515 [GRCh38]
Chr3:48506914 [GRCh37]
Chr3:3p21.31		 benign|likely benign
NM_130384.3(ATRIP):c.81G>C (p.Gly27=) single nucleotide variant not provided [RCV000916656] Chr3:48446926 [GRCh38]
Chr3:48488330 [GRCh37]
Chr3:3p21.31		 likely benign
NM_033629.6(TREX1):c.142_144del (p.Pro48del) deletion Aicardi-Goutieres syndrome 1 [RCV001043538] Chr3:48466793..48466795 [GRCh38]
Chr3:48508192..48508194 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.73C>A (p.Pro25Thr) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV001239028] Chr3:48466728 [GRCh38]
Chr3:48508127 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.463A>G (p.Ser155Gly) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV001217178]|Inborn genetic diseases [RCV004034022] Chr3:48467118 [GRCh38]
Chr3:48508517 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.473C>T (p.Ala158Val) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV001148457]|Aicardi-Goutieres syndrome 1 [RCV001246935]|Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations [RCV001148458]|not provided [RCV001759906] Chr3:48467128 [GRCh38]
Chr3:48508527 [GRCh37]
Chr3:3p21.31		 likely benign|uncertain significance
NM_130384.3(ATRIP):c.1066G>A (p.Gly356Arg) single nucleotide variant not provided [RCV000911254] Chr3:48460120 [GRCh38]
Chr3:48501519 [GRCh37]
Chr3:3p21.31		 likely benign
NM_033629.6(TREX1):c.806del (p.Gly269fs) deletion not provided [RCV000998069] Chr3:48467458 [GRCh38]
Chr3:48508857 [GRCh37]
Chr3:3p21.31		 likely pathogenic
NM_130384.3(ATRIP):c.1626T>G (p.Leu542=) single nucleotide variant not provided [RCV000912387] Chr3:48460680 [GRCh38]
Chr3:48502079 [GRCh37]
Chr3:3p21.31		 likely benign
NM_033629.6(TREX1):c.144del (p.Thr49fs) deletion Aicardi-Goutieres syndrome 1 [RCV001866193]|not provided [RCV001593823] Chr3:48466793 [GRCh38]
Chr3:48508192 [GRCh37]
Chr3:3p21.31		 pathogenic|likely pathogenic
NM_130384.3(ATRIP):c.203C>T (p.Ser68Leu) single nucleotide variant not provided [RCV003106744] Chr3:48447048 [GRCh38]
Chr3:48488452 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.514G>A (p.Gly172Ser) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV003106648] Chr3:48467169 [GRCh38]
Chr3:48508568 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_130384.3(ATRIP):c.1975-17= single nucleotide variant not provided [RCV001659396] Chr3:48464565 [GRCh38]
Chr3:48505964 [GRCh37]
Chr3:3p21.31		 benign
NM_130384.3(ATRIP):c.2056-8T>C single nucleotide variant ATRIP-related disorder [RCV004758820]|not provided [RCV001676567] Chr3:48464823 [GRCh38]
Chr3:48506222 [GRCh37]
Chr3:3p21.31		 benign
NM_130384.3(ATRIP):c.-58G>C single nucleotide variant not provided [RCV001614644] Chr3:48446788 [GRCh38]
Chr3:48488192 [GRCh37]
Chr3:3p21.31		 benign
NM_033629.6(TREX1):c.796G>T (p.Glu266Ter) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV001036420] Chr3:48467451 [GRCh38]
Chr3:48508850 [GRCh37]
Chr3:3p21.31		 likely pathogenic
NM_033629.6(TREX1):c.24G>A (p.Pro8=) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV001047254] Chr3:48466679 [GRCh38]
Chr3:48508078 [GRCh37]
Chr3:3p21.31		 likely benign|uncertain significance
NM_033629.6(TREX1):c.184C>T (p.Arg62Cys) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV001069845]|Inborn genetic diseases [RCV002554590] Chr3:48466839 [GRCh38]
Chr3:48508238 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.236_243dup (p.Ser82fs) microsatellite Aicardi-Goutieres syndrome 1 [RCV001041750]|Aicardi-Goutieres syndrome 1 [RCV001644908]|Aicardi-Goutieres syndrome 1 [RCV002489572]|Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations [RCV003128257]|TREX1-related disorder [RCV004528350]|not provided [RCV004720048] Chr3:48466881..48466882 [GRCh38]
Chr3:48508280..48508281 [GRCh37]
Chr3:3p21.31		 pathogenic|likely pathogenic
NM_033629.6(TREX1):c.817C>G (p.Leu273Val) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV001055523]|TREX1-related disorder [RCV004733133]|not provided [RCV004693531] Chr3:48467472 [GRCh38]
Chr3:48508871 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_130384.3(ATRIP):c.1882+22= single nucleotide variant not provided [RCV001695941] Chr3:48463903 [GRCh38]
Chr3:48505302 [GRCh37]
Chr3:3p21.31		 benign
NM_033629.6(TREX1):c.197A>G (p.Lys66Arg) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV001230075]|Inborn genetic diseases [RCV002563178]|not provided [RCV001751447] Chr3:48466852 [GRCh38]
Chr3:48508251 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.284A>G (p.His95Arg) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV001230534] Chr3:48466939 [GRCh38]
Chr3:48508338 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.120C>T (p.His40=) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV002069613]|not provided [RCV001093074] Chr3:48466775 [GRCh38]
Chr3:48508174 [GRCh37]
Chr3:3p21.31		 benign|uncertain significance
NM_033629.6(TREX1):c.633A>C (p.Arg211Ser) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV001234005]|Aicardi-Goutieres syndrome 1 [RCV002491755] Chr3:48467288 [GRCh38]
Chr3:48508687 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.935C>G (p.Pro312Arg) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV001068237] Chr3:48467590 [GRCh38]
Chr3:48508989 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.856_865dup (p.Ala289fs) duplication Systemic lupus erythematosus [RCV001197053] Chr3:48467509..48467510 [GRCh38]
Chr3:48508908..48508909 [GRCh37]
Chr3:3p21.31		 pathogenic
NM_033629.6(TREX1):c.803G>C (p.Arg268Thr) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV001143912]|Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations [RCV001143913] Chr3:48467458 [GRCh38]
Chr3:48508857 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.427C>G (p.Leu143Val) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV001036067] Chr3:48467082 [GRCh38]
Chr3:48508481 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.226G>T (p.Ala76Ser) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV001858775]|not provided [RCV000993350] Chr3:48466881 [GRCh38]
Chr3:48508280 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_130384.3(ATRIP):c.2224G>A (p.Val742Met) single nucleotide variant not specified [RCV004683410] Chr3:48464999 [GRCh38]
Chr3:48506398 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.143_144del (p.Pro48fs) deletion Aicardi-Goutieres syndrome 1 [RCV001262861] Chr3:48466793..48466794 [GRCh38]
Chr3:48508192..48508193 [GRCh37]
Chr3:3p21.31		 likely pathogenic
NM_033629.6(TREX1):c.666C>G (p.His222Gln) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV001889377] Chr3:48467321 [GRCh38]
Chr3:48508720 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.767del (p.Thr256fs) deletion Aicardi-Goutieres syndrome 1 [RCV001313793] Chr3:48467422 [GRCh38]
Chr3:48508821 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.317A>G (p.Asn106Ser) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV001330235] Chr3:48466972 [GRCh38]
Chr3:48508371 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.592G>A (p.Glu198Lys) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV001307854]|Aicardi-Goutieres syndrome 1 [RCV003135949]|Inborn genetic diseases [RCV002543212] Chr3:48467247 [GRCh38]
Chr3:48508646 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.26G>A (p.Gly9Glu) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV001314600] Chr3:48466681 [GRCh38]
Chr3:48508080 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.605T>G (p.Leu202Arg) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV001318310] Chr3:48467260 [GRCh38]
Chr3:48508659 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.491G>A (p.Arg164Gln) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV001343014]|TREX1-related disorder [RCV004733260] Chr3:48467146 [GRCh38]
Chr3:48508545 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.286G>A (p.Gly96Arg) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV001321088] Chr3:48466941 [GRCh38]
Chr3:48508340 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.308A>T (p.Asn103Ile) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV001319122]|Inborn genetic diseases [RCV004034954]|TREX1-related disorder [RCV004531108]|not specified [RCV003323855] Chr3:48466963 [GRCh38]
Chr3:48508362 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.403C>G (p.Gln135Glu) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV001361220] Chr3:48467058 [GRCh38]
Chr3:48508457 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_130384.3(ATRIP):c.829+2T>G single nucleotide variant Seckel syndrome [RCV001375045] Chr3:48457418 [GRCh38]
Chr3:48498818 [GRCh37]
Chr3:3p21.31		 pathogenic
NM_033629.6(TREX1):c.143C>T (p.Pro48Leu) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV001309567] Chr3:48466798 [GRCh38]
Chr3:48508197 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.497G>C (p.Ser166Thr) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV001340693] Chr3:48467152 [GRCh38]
Chr3:48508551 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.494C>A (p.Ala165Glu) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV001324749] Chr3:48467149 [GRCh38]
Chr3:48508548 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.95C>T (p.Thr32Met) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV001317878]|not provided [RCV004793417]|not specified [RCV001824950] Chr3:48466750 [GRCh38]
Chr3:48508149 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.578A>G (p.Asp193Gly) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV001321266] Chr3:48467233 [GRCh38]
Chr3:48508632 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.860_868del (p.Leu287_Ala289del) deletion Aicardi-Goutieres syndrome 1 [RCV001339561] Chr3:48467514..48467522 [GRCh38]
Chr3:48508913..48508921 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.854A>T (p.Glu285Val) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV001323768] Chr3:48467509 [GRCh38]
Chr3:48508908 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.434G>A (p.Ser145Asn) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV001351995] Chr3:48467089 [GRCh38]
Chr3:48508488 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.417T>C (p.Ala139=) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV001422057] Chr3:48467072 [GRCh38]
Chr3:48508471 [GRCh37]
Chr3:3p21.31		 likely benign
NM_033629.6(TREX1):c.-26-52C>T single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV001330931] Chr3:48466578 [GRCh38]
Chr3:48507977 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.500G>A (p.Ser167Asn) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV001313429] Chr3:48467155 [GRCh38]
Chr3:48508554 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.471T>G (p.Thr157=) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV001492378] Chr3:48467126 [GRCh38]
Chr3:48508525 [GRCh37]
Chr3:3p21.31		 likely benign
NM_033629.6(TREX1):c.477G>A (p.Leu159=) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV001420097]|not provided [RCV003438783] Chr3:48467132 [GRCh38]
Chr3:48508531 [GRCh37]
Chr3:3p21.31		 likely benign
NM_033629.6(TREX1):c.168A>T (p.Thr56=) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV001454673] Chr3:48466823 [GRCh38]
Chr3:48508222 [GRCh37]
Chr3:3p21.31		 likely benign
NM_033629.6(TREX1):c.123_125dup (p.Cys42Ter) duplication Aicardi-Goutieres syndrome 1 [RCV001381941]|Aicardi-Goutieres syndrome 1 [RCV002282536]|not provided [RCV004793476] Chr3:48466776..48466777 [GRCh38]
Chr3:48508175..48508176 [GRCh37]
Chr3:3p21.31		 pathogenic|likely pathogenic
NM_033629.6(TREX1):c.501C>T (p.Ser167=) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV001407904] Chr3:48467156 [GRCh38]
Chr3:48508555 [GRCh37]
Chr3:3p21.31		 likely benign
NM_033629.6(TREX1):c.144C>G (p.Pro48=) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV001406077] Chr3:48466799 [GRCh38]
Chr3:48508198 [GRCh37]
Chr3:3p21.31		 likely benign
NM_033629.6(TREX1):c.81C>G (p.Ser27=) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV001489766] Chr3:48466736 [GRCh38]
Chr3:48508135 [GRCh37]
Chr3:3p21.31		 likely benign
NM_033629.6(TREX1):c.690G>A (p.Arg230=) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV001461942] Chr3:48467345 [GRCh38]
Chr3:48508744 [GRCh37]
Chr3:3p21.31		 likely benign
NM_033629.6(TREX1):c.879G>C (p.Leu293=) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV001509928] Chr3:48467534 [GRCh38]
Chr3:48508933 [GRCh37]
Chr3:3p21.31		 benign
NM_130384.3(ATRIP):c.672-203= single nucleotide variant not provided [RCV001693865] Chr3:48457056 [GRCh38]
Chr3:48498456 [GRCh37]
Chr3:3p21.31		 benign
NM_033629.6(TREX1):c.504C>G (p.Pro168=) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV001516455] Chr3:48467159 [GRCh38]
Chr3:48508558 [GRCh37]
Chr3:3p21.31		 benign
NM_033629.6(TREX1):c.144C>A (p.Pro48=) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV001480518] Chr3:48466799 [GRCh38]
Chr3:48508198 [GRCh37]
Chr3:3p21.31		 likely benign
NM_130384.3(ATRIP):c.248-246del deletion not provided [RCV001715926] Chr3:48449771 [GRCh38]
Chr3:48491177 [GRCh37]
Chr3:3p21.31		 benign
NM_130384.3(ATRIP):c.719C>T (p.Pro240Leu) single nucleotide variant not provided [RCV001652889] Chr3:48457306 [GRCh38]
Chr3:48498706 [GRCh37]
Chr3:3p21.31		 benign
NM_033629.6(TREX1):c.403C>T (p.Gln135Ter) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV001380882] Chr3:48467058 [GRCh38]
Chr3:48508457 [GRCh37]
Chr3:3p21.31		 pathogenic
NM_033629.6(TREX1):c.144C>T (p.Pro48=) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV001497738] Chr3:48466799 [GRCh38]
Chr3:48508198 [GRCh37]
Chr3:3p21.31		 likely benign
NM_033629.6(TREX1):c.678C>T (p.Phe226=) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV001453776] Chr3:48467333 [GRCh38]
Chr3:48508732 [GRCh37]
Chr3:3p21.31		 likely benign
NM_033629.6(TREX1):c.393C>T (p.Phe131=) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV001417718] Chr3:48467048 [GRCh38]
Chr3:48508447 [GRCh37]
Chr3:3p21.31		 likely benign
NM_033629.6(TREX1):c.-26-82_-26-81insG insertion Aicardi Goutieres syndrome 1 [RCV001528153] Chr3:48466548..48466549 [GRCh38]
Chr3:48507947..48507948 [GRCh37]
Chr3:3p21.31		 pathogenic
NM_033629.6(TREX1):c.486G>A (p.Leu162=) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV001472371]|not provided [RCV001703098] Chr3:48467141 [GRCh38]
Chr3:48508540 [GRCh37]
Chr3:3p21.31		 likely benign
NM_033629.6(TREX1):c.632G>A (p.Arg211Lys) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV003108865] Chr3:48467287 [GRCh38]
Chr3:48508686 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_130384.3(ATRIP):c.1152_1155del (p.Thr384_Gly385insTer) deletion not provided [RCV003107223] Chr3:48460206..48460209 [GRCh38]
Chr3:48501605..48501608 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.150_151del (p.Gln51fs) microsatellite Aicardi-Goutieres syndrome 1 [RCV003774745]|See cases [RCV002253147]|not provided [RCV003134404] Chr3:48466802..48466803 [GRCh38]
Chr3:48508201..48508202 [GRCh37]
Chr3:3p21.31		 pathogenic|likely pathogenic
NM_033629.6(TREX1):c.137dup (p.Ser46fs) duplication Aicardi-Goutieres syndrome 1 [RCV002286847]|Chilblain lupus 1 [RCV001730099] Chr3:48466791..48466792 [GRCh38]
Chr3:48508190..48508191 [GRCh37]
Chr3:3p21.31		 pathogenic|likely pathogenic
NM_033629.6(TREX1):c.125G>A (p.Cys42Tyr) single nucleotide variant not provided [RCV002248271] Chr3:48466780 [GRCh38]
Chr3:48508179 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_130384.3(ATRIP):c.1645T>G (p.Ser549Ala) single nucleotide variant not specified [RCV004287536] Chr3:48460699 [GRCh38]
Chr3:48502098 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.467_469dup (p.Ile156_Thr157insIle) duplication Aicardi-Goutieres syndrome 1 [RCV001882841]|not provided [RCV001751854] Chr3:48467119..48467120 [GRCh38]
Chr3:48508518..48508519 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.553C>T (p.Arg185Cys) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV001869646]|not provided [RCV001816353]|not specified [RCV004526866] Chr3:48467208 [GRCh38]
Chr3:48508607 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.621_622del (p.Ile207fs) deletion Aicardi-Goutieres syndrome 1 [RCV001869598]|Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations [RCV001809208] Chr3:48467275..48467276 [GRCh38]
Chr3:48508674..48508675 [GRCh37]
Chr3:3p21.31		 pathogenic|likely pathogenic|uncertain significance
NM_033629.6(TREX1):c.526A>G (p.Ser176Gly) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV001874071]|not provided [RCV002463047] Chr3:48467181 [GRCh38]
Chr3:48508580 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.383G>A (p.Arg128His) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV002045442]|not specified [RCV003388078] Chr3:48467038 [GRCh38]
Chr3:48508437 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.858dup (p.Leu287fs) duplication Aicardi-Goutieres syndrome 1 [RCV001971387] Chr3:48467509..48467510 [GRCh38]
Chr3:48508908..48508909 [GRCh37]
Chr3:3p21.31		 likely pathogenic
NM_033629.6(TREX1):c.704T>G (p.Val235Gly) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV001895239] Chr3:48467359 [GRCh38]
Chr3:48508758 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.43_45dup (p.Ile15_Phe16insIle) duplication Aicardi-Goutieres syndrome 1 [RCV001889816] Chr3:48466695..48466696 [GRCh38]
Chr3:48508094..48508095 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.185G>A (p.Arg62His) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV001864038]|not specified [RCV004690150] Chr3:48466840 [GRCh38]
Chr3:48508239 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.206T>C (p.Leu69Pro) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV001967116]|Aicardi-Goutieres syndrome 1 [RCV004785397] Chr3:48466861 [GRCh38]
Chr3:48508260 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.80C>T (p.Ser27Phe) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV001926564]|TREX1-related disorder [RCV004529053] Chr3:48466735 [GRCh38]
Chr3:48508134 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.5G>T (p.Gly2Val) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV001889344] Chr3:48466660 [GRCh38]
Chr3:48508059 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.337C>G (p.Arg113Gly) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV001947192] Chr3:48466992 [GRCh38]
Chr3:48508391 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.527G>T (p.Ser176Ile) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV002040044] Chr3:48467182 [GRCh38]
Chr3:48508581 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.8C>T (p.Ser3Leu) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV001893160]|Inborn genetic diseases [RCV004039177] Chr3:48466663 [GRCh38]
Chr3:48508062 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_130384.3(ATRIP):c.631C>T (p.Arg211Ter) single nucleotide variant not provided [RCV001910601] Chr3:48454378 [GRCh38]
Chr3:48495778 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.491G>C (p.Arg164Pro) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV002042186]|Inborn genetic diseases [RCV002545690] Chr3:48467146 [GRCh38]
Chr3:48508545 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.300T>A (p.Phe100Leu) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV001890285] Chr3:48466955 [GRCh38]
Chr3:48508354 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.746C>T (p.Thr249Ile) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV001965261] Chr3:48467401 [GRCh38]
Chr3:48508800 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.394C>T (p.Pro132Ser) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV001947097] Chr3:48467049 [GRCh38]
Chr3:48508448 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.79_96del (p.Ser27_Thr32del) deletion Aicardi-Goutieres syndrome 1 [RCV001824110] Chr3:48466734..48466751 [GRCh38]
Chr3:48508133..48508150 [GRCh37]
Chr3:3p21.31		 likely pathogenic
NM_033629.6(TREX1):c.909_910del (p.Leu304fs) microsatellite Aicardi-Goutieres syndrome 1 [RCV002022942] Chr3:48467561..48467562 [GRCh38]
Chr3:48508960..48508961 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.61G>A (p.Ala21Thr) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV001928855] Chr3:48466716 [GRCh38]
Chr3:48508115 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.581C>T (p.Ser194Leu) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV001945120]|not provided [RCV002292677] Chr3:48467236 [GRCh38]
Chr3:48508635 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.430A>T (p.Thr144Ser) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV001910070] Chr3:48467085 [GRCh38]
Chr3:48508484 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.650G>A (p.Arg217Gln) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV002041257]|Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations [RCV004577010] Chr3:48467305 [GRCh38]
Chr3:48508704 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.374A>G (p.Asn125Ser) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV001891627] Chr3:48467029 [GRCh38]
Chr3:48508428 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.787A>G (p.Ser263Gly) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV002021931] Chr3:48467442 [GRCh38]
Chr3:48508841 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.268G>A (p.Ala90Thr) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV002007626] Chr3:48466923 [GRCh38]
Chr3:48508322 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.419T>C (p.Met140Thr) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV001911199] Chr3:48467074 [GRCh38]
Chr3:48508473 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.540C>T (p.Gly180=) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV001945681] Chr3:48467195 [GRCh38]
Chr3:48508594 [GRCh37]
Chr3:3p21.31		 likely benign|uncertain significance
NM_033629.6(TREX1):c.152A>C (p.Gln51Pro) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV001966962] Chr3:48466807 [GRCh38]
Chr3:48508206 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.91G>A (p.Val31Ile) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV002023436] Chr3:48466746 [GRCh38]
Chr3:48508145 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.934C>G (p.Pro312Ala) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV002021249] Chr3:48467589 [GRCh38]
Chr3:48508988 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_130384.3(ATRIP):c.1894CTG[2] (p.Leu634_Leu635del) microsatellite not provided [RCV002003229] Chr3:48464052..48464057 [GRCh38]
Chr3:48505451..48505456 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.509A>G (p.Glu170Gly) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV002003399] Chr3:48467164 [GRCh38]
Chr3:48508563 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.281C>T (p.Ala94Val) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV001966813] Chr3:48466936 [GRCh38]
Chr3:48508335 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.112G>T (p.Ala38Ser) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV002021281] Chr3:48466767 [GRCh38]
Chr3:48508166 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.289C>A (p.Arg97Ser) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV001984255] Chr3:48466944 [GRCh38]
Chr3:48508343 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.83A>G (p.Gln28Arg) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV001967181] Chr3:48466738 [GRCh38]
Chr3:48508137 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.830_833dup (p.Asp278fs) duplication Thrombotic microangiopathy [RCV001849584]|not provided [RCV004591591] Chr3:48467482..48467483 [GRCh38]
Chr3:48508881..48508882 [GRCh37]
Chr3:3p21.31		 likely pathogenic
NM_033629.6(TREX1):c.913_916del (p.Tyr305fs) deletion Aicardi-Goutieres syndrome 1 [RCV002040314]|not specified [RCV004782857] Chr3:48467566..48467569 [GRCh38]
Chr3:48508965..48508968 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.799dup (p.Ser267fs) duplication Aicardi-Goutieres syndrome 1 [RCV001965644] Chr3:48467453..48467454 [GRCh38]
Chr3:48508852..48508853 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.5del (p.Gly2fs) deletion Aicardi-Goutieres syndrome 1 [RCV001942306] Chr3:48466658 [GRCh38]
Chr3:48508057 [GRCh37]
Chr3:3p21.31		 pathogenic
NM_033629.6(TREX1):c.182C>T (p.Pro61Leu) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV001944472] Chr3:48466837 [GRCh38]
Chr3:48508236 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.412C>G (p.Leu138Val) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV001938747] Chr3:48467067 [GRCh38]
Chr3:48508466 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.296_299dup (p.Phe100fs) duplication Aicardi-Goutieres syndrome 1 [RCV001944393] Chr3:48466949..48466950 [GRCh38]
Chr3:48508348..48508349 [GRCh37]
Chr3:3p21.31		 pathogenic
NM_033629.6(TREX1):c.740C>T (p.Ala247Val) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV001935775] Chr3:48467395 [GRCh38]
Chr3:48508794 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.586A>G (p.Thr196Ala) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV002046068] Chr3:48467241 [GRCh38]
Chr3:48508640 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.2T>C (p.Met1Thr) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV001962187] Chr3:48466657 [GRCh38]
Chr3:48508056 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.877C>G (p.Leu293Val) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV002030266] Chr3:48467532 [GRCh38]
Chr3:48508931 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.139C>A (p.Pro47Thr) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV001956710] Chr3:48466794 [GRCh38]
Chr3:48508193 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.113C>T (p.Ala38Val) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV002029169] Chr3:48466768 [GRCh38]
Chr3:48508167 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.833A>T (p.Asp278Val) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV002019029] Chr3:48467488 [GRCh38]
Chr3:48508887 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.520A>G (p.Arg174Gly) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV001870456] Chr3:48467175 [GRCh38]
Chr3:48508574 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.357G>A (p.Trp119Ter) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV001972795] Chr3:48467012 [GRCh38]
Chr3:48508411 [GRCh37]
Chr3:3p21.31		 pathogenic
NM_033629.6(TREX1):c.782G>A (p.Ser261Asn) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV001936397] Chr3:48467437 [GRCh38]
Chr3:48508836 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.627G>C (p.Gln209His) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV001937012] Chr3:48467282 [GRCh38]
Chr3:48508681 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.795_802dup (p.Arg268fs) duplication Aicardi-Goutieres syndrome 1 [RCV001954446] Chr3:48467449..48467450 [GRCh38]
Chr3:48508848..48508849 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.739G>A (p.Ala247Thr) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV001880384] Chr3:48467394 [GRCh38]
Chr3:48508793 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.647T>C (p.Leu216Pro) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV001952332] Chr3:48467302 [GRCh38]
Chr3:48508701 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.399dup (p.Leu134fs) duplication Aicardi-Goutieres syndrome 1 [RCV001953552] Chr3:48467053..48467054 [GRCh38]
Chr3:48508452..48508453 [GRCh37]
Chr3:3p21.31		 pathogenic
NM_033629.6(TREX1):c.251T>G (p.Ile84Ser) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV002009746]|not provided [RCV004809717] Chr3:48466906 [GRCh38]
Chr3:48508305 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.277G>C (p.Ala93Pro) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV001957320] Chr3:48466932 [GRCh38]
Chr3:48508331 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_130384.3(ATRIP):c.337G>A (p.Glu113Lys) single nucleotide variant not provided [RCV001952600] Chr3:48450126 [GRCh38]
Chr3:48491532 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.347C>T (p.Pro116Leu) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV002028999] Chr3:48467002 [GRCh38]
Chr3:48508401 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.858_867delinsTGGATGCTCACGCCAGGCCTTTCGGCACCATCAGGCCCATGTATGGGGTCACAGCCTCTGCTAGGACCAAGCCAAGACCATCTGCTGTCACAACCACTGCACACCTGGCCACAACCAGGAACACTAGTCCCAGCCTTGGAGAGAGCAGGGGTACCAAGGATCTTCCTCCAGTGAAGGACCCTGGAGCCCTAT (p.Leu287_Ala289delinsGlyCysSerArgGlnAlaPheArgHisHisGlnAlaHisValTrpGlyHisSerLeuCysTer) indel Aicardi-Goutieres syndrome 1 [RCV002051312] Chr3:48467513..48467522 [GRCh38]
Chr3:48508912..48508921 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.607G>A (p.Ala203Thr) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV001955292] Chr3:48467262 [GRCh38]
Chr3:48508661 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.590C>T (p.Ala197Val) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV001897707]|not specified [RCV003230707] Chr3:48467245 [GRCh38]
Chr3:48508644 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.182C>G (p.Pro61Arg) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV002028121] Chr3:48466837 [GRCh38]
Chr3:48508236 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.802del (p.Arg268fs) deletion Aicardi-Goutieres syndrome 1 [RCV001920318]|not provided [RCV004728932] Chr3:48467457 [GRCh38]
Chr3:48508856 [GRCh37]
Chr3:3p21.31		 likely pathogenic|uncertain significance
NM_033629.6(TREX1):c.29C>A (p.Pro10His) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV001957617] Chr3:48466684 [GRCh38]
Chr3:48508083 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.749C>T (p.Thr250Ile) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV002030854]|Inborn genetic diseases [RCV002548965]|not provided [RCV003138058] Chr3:48467404 [GRCh38]
Chr3:48508803 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.55A>C (p.Met19Leu) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV002036152] Chr3:48466710 [GRCh38]
Chr3:48508109 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.608C>T (p.Ala203Val) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV001901964] Chr3:48467263 [GRCh38]
Chr3:48508662 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.127G>A (p.Ala43Thr) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV002020058] Chr3:48466782 [GRCh38]
Chr3:48508181 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.337C>T (p.Arg113Trp) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV001923430] Chr3:48466992 [GRCh38]
Chr3:48508391 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.719G>A (p.Arg240Lys) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV001899536] Chr3:48467374 [GRCh38]
Chr3:48508773 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.916G>T (p.Gly306Ter) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV001981384] Chr3:48467571 [GRCh38]
Chr3:48508970 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.296G>A (p.Cys99Tyr) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV001994224] Chr3:48466951 [GRCh38]
Chr3:48508350 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.770C>T (p.Thr257Ile) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV001922947] Chr3:48467425 [GRCh38]
Chr3:48508824 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.153_166del (p.Gln51fs) deletion Aicardi-Goutieres syndrome 1 [RCV001952479] Chr3:48466806..48466819 [GRCh38]
Chr3:48508205..48508218 [GRCh37]
Chr3:3p21.31		 pathogenic
NM_033629.6(TREX1):c.185G>T (p.Arg62Leu) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV002046314] Chr3:48466840 [GRCh38]
Chr3:48508239 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.588G>A (p.Thr196=) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV001875572] Chr3:48467243 [GRCh38]
Chr3:48508642 [GRCh37]
Chr3:3p21.31		 likely benign|uncertain significance
NM_033629.6(TREX1):c.35A>G (p.Gln12Arg) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV001884820] Chr3:48466690 [GRCh38]
Chr3:48508089 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.628T>C (p.Trp210Arg) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV001904485] Chr3:48467283 [GRCh38]
Chr3:48508682 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.470C>G (p.Thr157Ser) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV001998101] Chr3:48467125 [GRCh38]
Chr3:48508524 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.85C>T (p.Pro29Ser) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV001886097] Chr3:48466740 [GRCh38]
Chr3:48508139 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.694A>G (p.Met232Val) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV002033916] Chr3:48467349 [GRCh38]
Chr3:48508748 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.459G>A (p.Val153=) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV001925814] Chr3:48467114 [GRCh38]
Chr3:48508513 [GRCh37]
Chr3:3p21.31		 likely benign|uncertain significance
NM_033629.6(TREX1):c.393C>G (p.Phe131Leu) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV001867827] Chr3:48467048 [GRCh38]
Chr3:48508447 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.530A>G (p.Tyr177Cys) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV001931432] Chr3:48467185 [GRCh38]
Chr3:48508584 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.394C>A (p.Pro132Thr) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV002047232]|TREX1-related disorder [RCV004536371] Chr3:48467049 [GRCh38]
Chr3:48508448 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.132G>C (p.Leu44=) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV002071747] Chr3:48466787 [GRCh38]
Chr3:48508186 [GRCh37]
Chr3:3p21.31		 likely benign
NM_033629.6(TREX1):c.282G>A (p.Ala94=) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV002188359] Chr3:48466937 [GRCh38]
Chr3:48508336 [GRCh37]
Chr3:3p21.31		 likely benign
NM_033629.6(TREX1):c.798G>A (p.Glu266=) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV002125488] Chr3:48467453 [GRCh38]
Chr3:48508852 [GRCh37]
Chr3:3p21.31		 likely benign
NM_033629.6(TREX1):c.192A>C (p.Val64=) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV002206303] Chr3:48466847 [GRCh38]
Chr3:48508246 [GRCh37]
Chr3:3p21.31		 likely benign
NM_033629.6(TREX1):c.168A>C (p.Thr56=) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV002108063] Chr3:48466823 [GRCh38]
Chr3:48508222 [GRCh37]
Chr3:3p21.31		 likely benign
NM_033629.6(TREX1):c.813G>A (p.Lys271=) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV002206991] Chr3:48467468 [GRCh38]
Chr3:48508867 [GRCh37]
Chr3:3p21.31		 likely benign
NM_033629.6(TREX1):c.555C>T (p.Arg185=) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV002125676] Chr3:48467210 [GRCh38]
Chr3:48508609 [GRCh37]
Chr3:3p21.31		 likely benign
NM_033629.6(TREX1):c.814del (p.Asp272fs) deletion Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations [RCV002225175] Chr3:48467468 [GRCh38]
Chr3:48508867 [GRCh37]
Chr3:3p21.31		 likely pathogenic
NM_033629.6(TREX1):c.885C>T (p.Ala295=) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV002096182] Chr3:48467540 [GRCh38]
Chr3:48508939 [GRCh37]
Chr3:3p21.31		 likely benign
NM_033629.6(TREX1):c.522G>A (p.Arg174=) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV002135011] Chr3:48467177 [GRCh38]
Chr3:48508576 [GRCh37]
Chr3:3p21.31		 likely benign
NM_033629.6(TREX1):c.849C>T (p.Ser283=) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV002166073] Chr3:48467504 [GRCh38]
Chr3:48508903 [GRCh37]
Chr3:3p21.31		 likely benign
NM_033629.6(TREX1):c.321G>A (p.Leu107=) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV002173172] Chr3:48466976 [GRCh38]
Chr3:48508375 [GRCh37]
Chr3:3p21.31		 likely benign
NM_033629.6(TREX1):c.138C>T (p.Ser46=) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV002188797] Chr3:48466793 [GRCh38]
Chr3:48508192 [GRCh37]
Chr3:3p21.31		 likely benign
NM_130384.3(ATRIP):c.381+18T>C single nucleotide variant not provided [RCV002094204] Chr3:48450188 [GRCh38]
Chr3:48491594 [GRCh37]
Chr3:3p21.31		 benign
NM_033629.6(TREX1):c.632G>T (p.Arg211Ile) single nucleotide variant not provided [RCV002214288] Chr3:48467287 [GRCh38]
Chr3:48508686 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.543C>T (p.Ser181=) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV002130036] Chr3:48467198 [GRCh38]
Chr3:48508597 [GRCh37]
Chr3:3p21.31		 likely benign
NM_033629.6(TREX1):c.582G>A (p.Ser194=) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV002170119] Chr3:48467237 [GRCh38]
Chr3:48508636 [GRCh37]
Chr3:3p21.31		 likely benign
NM_033629.6(TREX1):c.594G>A (p.Glu198=) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV002156345] Chr3:48467249 [GRCh38]
Chr3:48508648 [GRCh37]
Chr3:3p21.31		 likely benign
NM_130384.3(ATRIP):c.759T>C (p.Phe253=) single nucleotide variant not provided [RCV002219161] Chr3:48457346 [GRCh38]
Chr3:48498746 [GRCh37]
Chr3:3p21.31		 likely benign
NM_033629.6(TREX1):c.513C>T (p.His171=) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV002178857] Chr3:48467168 [GRCh38]
Chr3:48508567 [GRCh37]
Chr3:3p21.31		 likely benign
NM_033629.6(TREX1):c.360C>T (p.Cys120=) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV002083653] Chr3:48467015 [GRCh38]
Chr3:48508414 [GRCh37]
Chr3:3p21.31		 likely benign
NM_033629.6(TREX1):c.939G>A (p.Gly313=) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV002220177] Chr3:48467594 [GRCh38]
Chr3:48508993 [GRCh37]
Chr3:3p21.31		 likely benign
NM_033629.6(TREX1):c.828G>A (p.Val276=) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV002199607]|not provided [RCV003438926] Chr3:48467483 [GRCh38]
Chr3:48508882 [GRCh37]
Chr3:3p21.31		 likely benign
NM_033629.6(TREX1):c.294A>G (p.Gln98=) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV002081262] Chr3:48466949 [GRCh38]
Chr3:48508348 [GRCh37]
Chr3:3p21.31		 likely benign
NM_033629.6(TREX1):c.558G>A (p.Leu186=) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV002142602] Chr3:48467213 [GRCh38]
Chr3:48508612 [GRCh37]
Chr3:3p21.31		 likely benign
NM_033629.6(TREX1):c.30C>T (p.Pro10=) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV002176391] Chr3:48466685 [GRCh38]
Chr3:48508084 [GRCh37]
Chr3:3p21.31		 likely benign
NM_130384.3(ATRIP):c.248-18T>A single nucleotide variant not provided [RCV002183106] Chr3:48450019 [GRCh38]
Chr3:48491425 [GRCh37]
Chr3:3p21.31		 benign
NM_033629.6(TREX1):c.-27+4A>G single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV004788417] Chr3:48466313 [GRCh38]
Chr3:48507712 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.621C>G (p.Ile207Met) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV003114975] Chr3:48467276 [GRCh38]
Chr3:48508675 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_130384.3(ATRIP):c.2131G>T (p.Asp711Tyr) single nucleotide variant not provided [RCV003117277] Chr3:48464906 [GRCh38]
Chr3:48506305 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.19C>T (p.Pro7Ser) single nucleotide variant See cases [RCV002252648] Chr3:48466674 [GRCh38]
Chr3:48508073 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.45C>G (p.Ile15Met) single nucleotide variant not provided [RCV003129565] Chr3:48466700 [GRCh38]
Chr3:48508099 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.541_544dup (p.Ile182fs) duplication Aicardi-Goutieres syndrome 1 [RCV003152792]|not provided [RCV002293090] Chr3:48467195..48467196 [GRCh38]
Chr3:48508594..48508595 [GRCh37]
Chr3:3p21.31		 likely pathogenic
NM_033629.6(TREX1):c.14C>A (p.Ala5Asp) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV002300171] Chr3:48466669 [GRCh38]
Chr3:48508068 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.184C>G (p.Arg62Gly) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV002300219] Chr3:48466839 [GRCh38]
Chr3:48508238 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.805G>A (p.Gly269Ser) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV002298162]|Retinal dystrophy [RCV004817015] Chr3:48467460 [GRCh38]
Chr3:48508859 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.803G>A (p.Arg268Lys) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV002296428] Chr3:48467458 [GRCh38]
Chr3:48508857 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.329C>G (p.Ala110Gly) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV002304922] Chr3:48466984 [GRCh38]
Chr3:48508383 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.752C>T (p.Thr251Ile) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV002301766] Chr3:48467407 [GRCh38]
Chr3:48508806 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.817C>T (p.Leu273Phe) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV002296043] Chr3:48467472 [GRCh38]
Chr3:48508871 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.98A>T (p.Glu33Val) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV002302113] Chr3:48466753 [GRCh38]
Chr3:48508152 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.380A>T (p.Asp127Val) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV002301665] Chr3:48467035 [GRCh38]
Chr3:48508434 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.780_781del (p.Pro262fs) deletion Aicardi-Goutieres syndrome 1 [RCV002815801] Chr3:48467435..48467436 [GRCh38]
Chr3:48508834..48508835 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.678C>G (p.Phe226Leu) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV003074450]|Inborn genetic diseases [RCV004070397] Chr3:48467333 [GRCh38]
Chr3:48508732 [GRCh37]
Chr3:3p21.31		 benign|uncertain significance
NM_130384.3(ATRIP):c.833G>C (p.Ser278Thr) single nucleotide variant not provided [RCV003777595]|not specified [RCV004077033] Chr3:48459362 [GRCh38]
Chr3:48500761 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_130384.3(ATRIP):c.2043G>C (p.Gln681His) single nucleotide variant not provided [RCV002994941]|not specified [RCV004068449] Chr3:48464650 [GRCh38]
Chr3:48506049 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_130384.3(ATRIP):c.127C>A (p.Pro43Thr) single nucleotide variant not provided [RCV002615525]|not specified [RCV004676154] Chr3:48446972 [GRCh38]
Chr3:48488376 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.173C>T (p.Pro58Leu) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV003076316] Chr3:48466828 [GRCh38]
Chr3:48508227 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.733C>T (p.Pro245Ser) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV002907602] Chr3:48467388 [GRCh38]
Chr3:48508787 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_130384.3(ATRIP):c.2056-9dup duplication not provided [RCV002776072] Chr3:48464815..48464816 [GRCh38]
Chr3:48506214..48506215 [GRCh37]
Chr3:3p21.31		 benign
NM_033629.6(TREX1):c.51C>T (p.Phe17=) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV002908438] Chr3:48466706 [GRCh38]
Chr3:48508105 [GRCh37]
Chr3:3p21.31		 likely benign
NM_130384.3(ATRIP):c.2144G>A (p.Arg715Gln) single nucleotide variant not provided [RCV002775409] Chr3:48464919 [GRCh38]
Chr3:48506318 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.910C>T (p.Leu304=) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV002947143] Chr3:48467565 [GRCh38]
Chr3:48508964 [GRCh37]
Chr3:3p21.31		 likely benign
NM_033629.6(TREX1):c.616A>G (p.Ser206Gly) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV003075686]|not provided [RCV003435867] Chr3:48467271 [GRCh38]
Chr3:48508670 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.60G>A (p.Glu20=) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV003032518] Chr3:48466715 [GRCh38]
Chr3:48508114 [GRCh37]
Chr3:3p21.31		 likely benign
NM_130384.3(ATRIP):c.1143G>C (p.Leu381=) single nucleotide variant not provided [RCV002616286] Chr3:48460197 [GRCh38]
Chr3:48501596 [GRCh37]
Chr3:3p21.31		 likely benign
NM_033629.6(TREX1):c.468C>G (p.Ile156Met) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV002755273] Chr3:48467123 [GRCh38]
Chr3:48508522 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.271G>C (p.Val91Leu) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV003032749] Chr3:48466926 [GRCh38]
Chr3:48508325 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.172C>T (p.Pro58Ser) single nucleotide variant Inborn genetic diseases [RCV002729093] Chr3:48466827 [GRCh38]
Chr3:48508226 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.410A>C (p.Glu137Ala) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV002842271] Chr3:48467065 [GRCh38]
Chr3:48508464 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_130384.3(ATRIP):c.717T>C (p.Ser239=) single nucleotide variant not provided [RCV002617596] Chr3:48457304 [GRCh38]
Chr3:48498704 [GRCh37]
Chr3:3p21.31		 likely benign
NM_033629.6(TREX1):c.909A>G (p.Thr303=) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV002991462] Chr3:48467564 [GRCh38]
Chr3:48508963 [GRCh37]
Chr3:3p21.31		 likely benign
NM_130384.3(ATRIP):c.2310G>A (p.Glu770=) single nucleotide variant not provided [RCV003013498] Chr3:48465488 [GRCh38]
Chr3:48506887 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_130384.3(ATRIP):c.1936G>A (p.Val646Met) single nucleotide variant not provided [RCV002750299] Chr3:48464094 [GRCh38]
Chr3:48505493 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.74C>T (p.Pro25Leu) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV003075662] Chr3:48466729 [GRCh38]
Chr3:48508128 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_130384.3(ATRIP):c.679A>G (p.Lys227Glu) single nucleotide variant not provided [RCV003013763] Chr3:48457266 [GRCh38]
Chr3:48498666 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.96G>A (p.Thr32=) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV003075769]|not provided [RCV003435869] Chr3:48466751 [GRCh38]
Chr3:48508150 [GRCh37]
Chr3:3p21.31		 likely benign
NM_130384.3(ATRIP):c.65C>A (p.Pro22Gln) single nucleotide variant not provided [RCV003033655] Chr3:48446910 [GRCh38]
Chr3:48488314 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.666C>A (p.His222Gln) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV003017496] Chr3:48467321 [GRCh38]
Chr3:48508720 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_130384.3(ATRIP):c.2258C>T (p.Pro753Leu) single nucleotide variant not provided [RCV003075746] Chr3:48465033 [GRCh38]
Chr3:48506432 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_130384.3(ATRIP):c.246C>T (p.Ser82=) single nucleotide variant not provided [RCV002617001] Chr3:48447091 [GRCh38]
Chr3:48488495 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_130384.3(ATRIP):c.1056-18_1056-15del deletion not provided [RCV003039294] Chr3:48460089..48460092 [GRCh38]
Chr3:48501488..48501491 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_130384.3(ATRIP):c.1264C>T (p.Leu422Phe) single nucleotide variant not specified [RCV004133419] Chr3:48460318 [GRCh38]
Chr3:48501717 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_130384.3(ATRIP):c.493C>G (p.Leu165Val) single nucleotide variant not provided [RCV002591195] Chr3:48451840 [GRCh38]
Chr3:48493246 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_130384.3(ATRIP):c.1266T>C (p.Leu422=) single nucleotide variant not provided [RCV002740167] Chr3:48460320 [GRCh38]
Chr3:48501719 [GRCh37]
Chr3:3p21.31		 likely benign
NM_033629.6(TREX1):c.617G>A (p.Ser206Asn) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV002592236] Chr3:48467272 [GRCh38]
Chr3:48508671 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_130384.3(ATRIP):c.332A>T (p.Asn111Ile) single nucleotide variant not specified [RCV004106496] Chr3:48450121 [GRCh38]
Chr3:48491527 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.18dup (p.Pro7fs) duplication Aicardi-Goutieres syndrome 1 [RCV003055644] Chr3:48466672..48466673 [GRCh38]
Chr3:48508071..48508072 [GRCh37]
Chr3:3p21.31		 pathogenic
NM_130384.3(ATRIP):c.26G>T (p.Ser9Ile) single nucleotide variant not provided [RCV002914233] Chr3:48446871 [GRCh38]
Chr3:48488275 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_130384.3(ATRIP):c.1857G>A (p.Leu619=) single nucleotide variant not provided [RCV002659555] Chr3:48463856 [GRCh38]
Chr3:48505255 [GRCh37]
Chr3:3p21.31		 likely benign
NM_130384.3(ATRIP):c.316G>A (p.Val106Ile) single nucleotide variant not provided [RCV002705279] Chr3:48450105 [GRCh38]
Chr3:48491511 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_130384.3(ATRIP):c.2110G>A (p.Ala704Thr) single nucleotide variant not provided [RCV002923175] Chr3:48464885 [GRCh38]
Chr3:48506284 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.757C>T (p.His253Tyr) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV002909636] Chr3:48467412 [GRCh38]
Chr3:48508811 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.548A>G (p.Tyr183Cys) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV002824022] Chr3:48467203 [GRCh38]
Chr3:48508602 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_130384.3(ATRIP):c.1171C>T (p.Arg391Trp) single nucleotide variant not provided [RCV002760301] Chr3:48460225 [GRCh38]
Chr3:48501624 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_130384.3(ATRIP):c.515A>G (p.Gln172Arg) single nucleotide variant not provided [RCV002923828] Chr3:48451862 [GRCh38]
Chr3:48493268 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.508G>A (p.Glu170Lys) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV002636356] Chr3:48467163 [GRCh38]
Chr3:48508562 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_130384.3(ATRIP):c.1883-11G>C single nucleotide variant not provided [RCV002781356] Chr3:48464030 [GRCh38]
Chr3:48505429 [GRCh37]
Chr3:3p21.31		 likely benign
NM_033629.6(TREX1):c.474_475delinsCT (p.Ala158_Leu159=) indel Aicardi-Goutieres syndrome 1 [RCV002979743] Chr3:48467129..48467130 [GRCh38]
Chr3:48508528..48508529 [GRCh37]
Chr3:3p21.31		 likely benign
NM_033629.6(TREX1):c.788G>A (p.Ser263Asn) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV003002542]|Inborn genetic diseases [RCV004681595] Chr3:48467443 [GRCh38]
Chr3:48508842 [GRCh37]
Chr3:3p21.31		 likely benign|uncertain significance
NM_130384.3(ATRIP):c.1539G>A (p.Leu513=) single nucleotide variant not provided [RCV002735521] Chr3:48460593 [GRCh38]
Chr3:48501992 [GRCh37]
Chr3:3p21.31		 likely benign
NM_130384.3(ATRIP):c.1121C>T (p.Ala374Val) single nucleotide variant not provided [RCV003009132]|not specified [RCV004068402] Chr3:48460175 [GRCh38]
Chr3:48501574 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.726G>A (p.Lys242=) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV002952728] Chr3:48467381 [GRCh38]
Chr3:48508780 [GRCh37]
Chr3:3p21.31		 likely benign
NM_130384.3(ATRIP):c.1807G>A (p.Val603Met) single nucleotide variant not provided [RCV003738333]|not specified [RCV004191857] Chr3:48463806 [GRCh38]
Chr3:48505205 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.152A>G (p.Gln51Arg) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV003037840] Chr3:48466807 [GRCh38]
Chr3:48508206 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.55A>G (p.Met19Val) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV002761239] Chr3:48466710 [GRCh38]
Chr3:48508109 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_130384.3(ATRIP):c.2153G>A (p.Arg718His) single nucleotide variant not provided [RCV002913368] Chr3:48464928 [GRCh38]
Chr3:48506327 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.263G>T (p.Ser88Ile) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV002619995] Chr3:48466918 [GRCh38]
Chr3:48508317 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.32T>C (p.Met11Thr) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV003037706] Chr3:48466687 [GRCh38]
Chr3:48508086 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_130384.3(ATRIP):c.1882+18G>A single nucleotide variant not provided [RCV002571014] Chr3:48463899 [GRCh38]
Chr3:48505298 [GRCh37]
Chr3:3p21.31		 likely benign
NM_130384.3(ATRIP):c.2068C>T (p.Leu690Phe) single nucleotide variant not provided [RCV003561125]|not specified [RCV004187562] Chr3:48464843 [GRCh38]
Chr3:48506242 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.591T>C (p.Ala197=) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV002953252] Chr3:48467246 [GRCh38]
Chr3:48508645 [GRCh37]
Chr3:3p21.31		 likely benign
NM_130384.3(ATRIP):c.1741C>T (p.Pro581Ser) single nucleotide variant not provided [RCV002796348] Chr3:48460795 [GRCh38]
Chr3:48502194 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_130384.3(ATRIP):c.1974+2dup duplication not provided [RCV002846814] Chr3:48464133..48464134 [GRCh38]
Chr3:48505532..48505533 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_130384.3(ATRIP):c.688T>C (p.Ser230Pro) single nucleotide variant not provided [RCV002570053]|not specified [RCV004681493] Chr3:48457275 [GRCh38]
Chr3:48498675 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_130384.3(ATRIP):c.737C>T (p.Ser246Phe) single nucleotide variant not specified [RCV004092828] Chr3:48457324 [GRCh38]
Chr3:48498724 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.40C>T (p.Leu14Phe) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV003001908] Chr3:48466695 [GRCh38]
Chr3:48508094 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_130384.3(ATRIP):c.2207T>C (p.Leu736Pro) single nucleotide variant not provided [RCV002948410]|not specified [RCV004681571] Chr3:48464982 [GRCh38]
Chr3:48506381 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_130384.3(ATRIP):c.2011C>T (p.Pro671Ser) single nucleotide variant not provided [RCV002576383] Chr3:48464618 [GRCh38]
Chr3:48506017 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.260T>C (p.Leu87Pro) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV002958020] Chr3:48466915 [GRCh38]
Chr3:48508314 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_130384.3(ATRIP):c.2161C>T (p.Arg721Trp) single nucleotide variant not specified [RCV004099266] Chr3:48464936 [GRCh38]
Chr3:48506335 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_130384.3(ATRIP):c.2155T>C (p.Cys719Arg) single nucleotide variant not provided [RCV003042710] Chr3:48464930 [GRCh38]
Chr3:48506329 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.246C>T (p.Ser82=) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV002982519] Chr3:48466901 [GRCh38]
Chr3:48508300 [GRCh37]
Chr3:3p21.31		 likely benign
NM_033629.6(TREX1):c.375T>C (p.Asn125=) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV002666705] Chr3:48467030 [GRCh38]
Chr3:48508429 [GRCh37]
Chr3:3p21.31		 likely benign
NM_033629.6(TREX1):c.126T>G (p.Cys42Trp) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV003056980] Chr3:48466781 [GRCh38]
Chr3:48508180 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.758A>G (p.His253Arg) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV002850883] Chr3:48467413 [GRCh38]
Chr3:48508812 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_130384.3(ATRIP):c.1974+17C>T single nucleotide variant not provided [RCV002800828] Chr3:48464149 [GRCh38]
Chr3:48505548 [GRCh37]
Chr3:3p21.31		 benign
NM_033629.6(TREX1):c.246C>A (p.Ser82Arg) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV002914540] Chr3:48466901 [GRCh38]
Chr3:48508300 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.405A>G (p.Gln135=) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV002574233] Chr3:48467060 [GRCh38]
Chr3:48508459 [GRCh37]
Chr3:3p21.31		 likely benign
NM_130384.3(ATRIP):c.1925G>A (p.Arg642Gln) single nucleotide variant not specified [RCV004157961] Chr3:48464083 [GRCh38]
Chr3:48505482 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.-11_2del (p.Met1fs) deletion Aicardi-Goutieres syndrome 1 [RCV002875958] Chr3:48466645..48466657 [GRCh38]
Chr3:48508044..48508056 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_130384.3(ATRIP):c.488A>G (p.His163Arg) single nucleotide variant not provided [RCV002875746] Chr3:48451835 [GRCh38]
Chr3:48493241 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_130384.3(ATRIP):c.1567A>C (p.Thr523Pro) single nucleotide variant not provided [RCV002643712] Chr3:48460621 [GRCh38]
Chr3:48502020 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_130384.3(ATRIP):c.235C>T (p.Arg79Trp) single nucleotide variant not provided [RCV003039705] Chr3:48447080 [GRCh38]
Chr3:48488484 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.760C>T (p.Leu254=) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV002851464] Chr3:48467415 [GRCh38]
Chr3:48508814 [GRCh37]
Chr3:3p21.31		 likely benign
NM_130384.3(ATRIP):c.181G>A (p.Glu61Lys) single nucleotide variant not provided [RCV002574146] Chr3:48447026 [GRCh38]
Chr3:48488430 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.229T>C (p.Cys77Arg) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV003022864] Chr3:48466884 [GRCh38]
Chr3:48508283 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.369A>G (p.Ala123=) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV002625123] Chr3:48467024 [GRCh38]
Chr3:48508423 [GRCh37]
Chr3:3p21.31		 likely benign
NM_130384.3(ATRIP):c.2056-6_2056-3del microsatellite not provided [RCV002958644] Chr3:48464822..48464825 [GRCh38]
Chr3:48506221..48506224 [GRCh37]
Chr3:3p21.31		 likely benign
NM_130384.3(ATRIP):c.2130C>T (p.Thr710=) single nucleotide variant ATRIP-related disorder [RCV003963638]|not provided [RCV003082595] Chr3:48464905 [GRCh38]
Chr3:48506304 [GRCh37]
Chr3:3p21.31		 likely benign
NM_033629.6(TREX1):c.783T>C (p.Ser261=) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV002954207] Chr3:48467438 [GRCh38]
Chr3:48508837 [GRCh37]
Chr3:3p21.31		 likely benign
NM_033629.6(TREX1):c.258T>C (p.Gly86=) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV003005781] Chr3:48466913 [GRCh38]
Chr3:48508312 [GRCh37]
Chr3:3p21.31		 likely benign
NM_033629.6(TREX1):c.453C>G (p.Phe151Leu) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV003023036] Chr3:48467108 [GRCh38]
Chr3:48508507 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_130384.3(ATRIP):c.2056-11C>G single nucleotide variant not provided [RCV002666918] Chr3:48464820 [GRCh38]
Chr3:48506219 [GRCh37]
Chr3:3p21.31		 likely benign
NM_033629.6(TREX1):c.513del (p.His171fs) deletion Aicardi-Goutieres syndrome 1 [RCV002667197] Chr3:48467168 [GRCh38]
Chr3:48508567 [GRCh37]
Chr3:3p21.31		 pathogenic
NM_130384.3(ATRIP):c.1485_1490del (p.Leu496_Leu497del) deletion not provided [RCV002596027] Chr3:48460537..48460542 [GRCh38]
Chr3:48501936..48501941 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.10C>A (p.Gln4Lys) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV002790226] Chr3:48466665 [GRCh38]
Chr3:48508064 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_130384.3(ATRIP):c.466C>G (p.Leu156Val) single nucleotide variant not provided [RCV002851692] Chr3:48451813 [GRCh38]
Chr3:48493219 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.615C>T (p.Leu205=) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV003022768] Chr3:48467270 [GRCh38]
Chr3:48508669 [GRCh37]
Chr3:3p21.31		 likely benign
NM_130384.3(ATRIP):c.2133C>G (p.Asp711Glu) single nucleotide variant not provided [RCV003011299] Chr3:48464908 [GRCh38]
Chr3:48506307 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_130384.3(ATRIP):c.2297C>T (p.Thr766Met) single nucleotide variant not provided [RCV002937626] Chr3:48465072 [GRCh38]
Chr3:48506471 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_130384.3(ATRIP):c.2152C>T (p.Arg718Cys) single nucleotide variant not specified [RCV004144444] Chr3:48464927 [GRCh38]
Chr3:48506326 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_130384.3(ATRIP):c.1842G>A (p.Ala614=) single nucleotide variant not provided [RCV002628771] Chr3:48463841 [GRCh38]
Chr3:48505240 [GRCh37]
Chr3:3p21.31		 likely benign
NM_033629.6(TREX1):c.20C>G (p.Pro7Arg) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV002676321] Chr3:48466675 [GRCh38]
Chr3:48508074 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_130384.3(ATRIP):c.398A>G (p.Glu133Gly) single nucleotide variant not provided [RCV002631598] Chr3:48451745 [GRCh38]
Chr3:48493151 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.187G>A (p.Val63Met) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV003065161] Chr3:48466842 [GRCh38]
Chr3:48508241 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.735_737dup (p.Ser246_Ala247insSer) duplication Aicardi-Goutieres syndrome 1 [RCV003089687] Chr3:48467388..48467389 [GRCh38]
Chr3:48508787..48508788 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.917G>C (p.Gly306Ala) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV002651670] Chr3:48467572 [GRCh38]
Chr3:48508971 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_130384.3(ATRIP):c.2230G>T (p.Val744Phe) single nucleotide variant not specified [RCV004072555] Chr3:48465005 [GRCh38]
Chr3:48506404 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.63C>T (p.Ala21=) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV002833518] Chr3:48466718 [GRCh38]
Chr3:48508117 [GRCh37]
Chr3:3p21.31		 likely benign
NM_033629.6(TREX1):c.88A>G (p.Lys30Glu) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV002671534] Chr3:48466743 [GRCh38]
Chr3:48508142 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.224A>G (p.Lys75Arg) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV002895542] Chr3:48466879 [GRCh38]
Chr3:48508278 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_130384.3(ATRIP):c.1000A>C (p.Ser334Arg) single nucleotide variant not provided [RCV003010329] Chr3:48459861 [GRCh38]
Chr3:48501260 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.815A>C (p.Asp272Ala) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV003028811] Chr3:48467470 [GRCh38]
Chr3:48508869 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_130384.3(ATRIP):c.1637T>G (p.Leu546Trp) single nucleotide variant not provided [RCV003086205] Chr3:48460691 [GRCh38]
Chr3:48502090 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_130384.3(ATRIP):c.456G>A (p.Thr152=) single nucleotide variant not provided [RCV003086965] Chr3:48451803 [GRCh38]
Chr3:48493209 [GRCh37]
Chr3:3p21.31		 likely benign
NM_130384.3(ATRIP):c.654C>T (p.Pro218=) single nucleotide variant not provided [RCV002600346] Chr3:48454401 [GRCh38]
Chr3:48495801 [GRCh37]
Chr3:3p21.31		 likely benign
NM_130384.3(ATRIP):c.1849G>A (p.Asp617Asn) single nucleotide variant not provided [RCV002631562]|not specified [RCV004066588] Chr3:48463848 [GRCh38]
Chr3:48505247 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.806G>A (p.Gly269Asp) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV002938206] Chr3:48467461 [GRCh38]
Chr3:48508860 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_130384.3(ATRIP):c.1883-6T>C single nucleotide variant not provided [RCV002600019] Chr3:48464035 [GRCh38]
Chr3:48505434 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_130384.3(ATRIP):c.2018C>T (p.Pro673Leu) single nucleotide variant not provided [RCV002598153] Chr3:48464625 [GRCh38]
Chr3:48506024 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.685A>G (p.Ile229Val) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV002647103] Chr3:48467340 [GRCh38]
Chr3:48508739 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.345G>T (p.Gln115His) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV002900526] Chr3:48467000 [GRCh38]
Chr3:48508399 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.334C>T (p.Leu112=) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV002628498] Chr3:48466989 [GRCh38]
Chr3:48508388 [GRCh37]
Chr3:3p21.31		 likely benign
NM_130384.3(ATRIP):c.518C>T (p.Ala173Val) single nucleotide variant not provided [RCV002647479]|not specified [RCV004070704] Chr3:48451865 [GRCh38]
Chr3:48493271 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.22C>G (p.Pro8Ala) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV002650698] Chr3:48466677 [GRCh38]
Chr3:48508076 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_130384.3(ATRIP):c.1476C>G (p.Val492=) single nucleotide variant not provided [RCV003009209] Chr3:48460530 [GRCh38]
Chr3:48501929 [GRCh37]
Chr3:3p21.31		 likely benign
NM_130384.3(ATRIP):c.2302T>G (p.Cys768Gly) single nucleotide variant not provided [RCV002937782] Chr3:48465077 [GRCh38]
Chr3:48506476 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_130384.3(ATRIP):c.1859C>T (p.Ala620Val) single nucleotide variant not provided [RCV003046634] Chr3:48463858 [GRCh38]
Chr3:48505257 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_130384.3(ATRIP):c.1355A>G (p.His452Arg) single nucleotide variant not provided [RCV002922505] Chr3:48460409 [GRCh38]
Chr3:48501808 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.446G>C (p.Gly149Ala) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV002962809] Chr3:48467101 [GRCh38]
Chr3:48508500 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.478A>C (p.Lys160Gln) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV003090851] Chr3:48467133 [GRCh38]
Chr3:48508532 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.892A>T (p.Thr298Ser) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV003045914] Chr3:48467547 [GRCh38]
Chr3:48508946 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_130384.3(ATRIP):c.934T>C (p.Leu312=) single nucleotide variant not provided [RCV002597663] Chr3:48459795 [GRCh38]
Chr3:48501194 [GRCh37]
Chr3:3p21.31		 likely benign
NM_130384.3(ATRIP):c.2259G>A (p.Pro753=) single nucleotide variant not provided [RCV002632295] Chr3:48465034 [GRCh38]
Chr3:48506433 [GRCh37]
Chr3:3p21.31		 likely benign
NM_033629.6(TREX1):c.895T>G (p.Leu299Val) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV003044324] Chr3:48467550 [GRCh38]
Chr3:48508949 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.880C>T (p.Leu294=) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV002746042] Chr3:48467535 [GRCh38]
Chr3:48508934 [GRCh37]
Chr3:3p21.31		 likely benign
NM_130384.3(ATRIP):c.889T>G (p.Phe297Val) single nucleotide variant not provided [RCV003708717]|not specified [RCV004167635] Chr3:48459418 [GRCh38]
Chr3:48500817 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.277G>A (p.Ala93Thr) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV002628434] Chr3:48466932 [GRCh38]
Chr3:48508331 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_130384.3(ATRIP):c.25A>C (p.Ser9Arg) single nucleotide variant not provided [RCV003089541] Chr3:48446870 [GRCh38]
Chr3:48488274 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_130384.3(ATRIP):c.80G>A (p.Gly27Glu) single nucleotide variant not provided [RCV002811308] Chr3:48446925 [GRCh38]
Chr3:48488329 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.287G>C (p.Gly96Ala) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV003063587] Chr3:48466942 [GRCh38]
Chr3:48508341 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_130384.3(ATRIP):c.2329T>C (p.Cys777Arg) single nucleotide variant not provided [RCV003045465] Chr3:48465507 [GRCh38]
Chr3:48506906 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_130384.3(ATRIP):c.677G>A (p.Arg226Lys) single nucleotide variant not provided [RCV003046690] Chr3:48457264 [GRCh38]
Chr3:48498664 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_130384.3(ATRIP):c.1947G>A (p.Glu649=) single nucleotide variant not provided [RCV002602560] Chr3:48464105 [GRCh38]
Chr3:48505504 [GRCh37]
Chr3:3p21.31		 likely benign
NM_130384.3(ATRIP):c.32G>A (p.Arg11Lys) single nucleotide variant not provided [RCV002962402] Chr3:48446877 [GRCh38]
Chr3:48488281 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_130384.3(ATRIP):c.1796C>A (p.Pro599His) single nucleotide variant not provided [RCV002670831] Chr3:48463795 [GRCh38]
Chr3:48505194 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_130384.3(ATRIP):c.2039G>C (p.Cys680Ser) single nucleotide variant not provided [RCV003777702]|not specified [RCV004101139] Chr3:48464646 [GRCh38]
Chr3:48506045 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.70T>C (p.Leu24=) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV002943222] Chr3:48466725 [GRCh38]
Chr3:48508124 [GRCh37]
Chr3:3p21.31		 likely benign
NM_033629.6(TREX1):c.289C>T (p.Arg97Cys) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV003067766] Chr3:48466944 [GRCh38]
Chr3:48508343 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.242C>T (p.Ala81Val) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV003067788] Chr3:48466897 [GRCh38]
Chr3:48508296 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.209G>C (p.Cys70Ser) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV003093138] Chr3:48466864 [GRCh38]
Chr3:48508263 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.318C>T (p.Asn106=) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV003049946] Chr3:48466973 [GRCh38]
Chr3:48508372 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_130384.3(ATRIP):c.2012C>T (p.Pro671Leu) single nucleotide variant not specified [RCV004221232] Chr3:48464619 [GRCh38]
Chr3:48506018 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_130384.3(ATRIP):c.1028C>A (p.Thr343Asn) single nucleotide variant not provided [RCV002583327] Chr3:48459889 [GRCh38]
Chr3:48501288 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_130384.3(ATRIP):c.2056-10C>G single nucleotide variant not provided [RCV003066786] Chr3:48464821 [GRCh38]
Chr3:48506220 [GRCh37]
Chr3:3p21.31		 likely benign
NM_033629.6(TREX1):c.469A>G (p.Thr157Ala) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV002653090] Chr3:48467124 [GRCh38]
Chr3:48508523 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_130384.3(ATRIP):c.925+13C>G single nucleotide variant not provided [RCV002589469] Chr3:48459467 [GRCh38]
Chr3:48500866 [GRCh37]
Chr3:3p21.31		 likely benign
NM_033629.6(TREX1):c.676T>C (p.Phe226Leu) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV002814509] Chr3:48467331 [GRCh38]
Chr3:48508730 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_130384.3(ATRIP):c.795G>A (p.Thr265=) single nucleotide variant not provided [RCV002605823] Chr3:48457382 [GRCh38]
Chr3:48498782 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_130384.3(ATRIP):c.1677T>C (p.Ser559=) single nucleotide variant not provided [RCV003068693] Chr3:48460731 [GRCh38]
Chr3:48502130 [GRCh37]
Chr3:3p21.31		 likely benign
NM_130384.3(ATRIP):c.1351A>T (p.Thr451Ser) single nucleotide variant not provided [RCV002587991] Chr3:48460405 [GRCh38]
Chr3:48501804 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_130384.3(ATRIP):c.1928C>T (p.Pro643Leu) single nucleotide variant not provided [RCV002654272]|not specified [RCV004066820] Chr3:48464086 [GRCh38]
Chr3:48505485 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_130384.3(ATRIP):c.1882+17C>T single nucleotide variant not provided [RCV002725700] Chr3:48463898 [GRCh38]
Chr3:48505297 [GRCh37]
Chr3:3p21.31		 likely benign
NM_130384.3(ATRIP):c.355G>A (p.Ala119Thr) single nucleotide variant not provided [RCV003777589]|not specified [RCV004079048] Chr3:48450144 [GRCh38]
Chr3:48491550 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_130384.3(ATRIP):c.1378G>A (p.Val460Ile) single nucleotide variant not specified [RCV004216784] Chr3:48460432 [GRCh38]
Chr3:48501831 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_130384.3(ATRIP):c.462C>T (p.Ser154=) single nucleotide variant not provided [RCV002582413] Chr3:48451809 [GRCh38]
Chr3:48493215 [GRCh37]
Chr3:3p21.31		 likely benign
NM_130384.3(ATRIP):c.89dup (p.Ser31fs) duplication not provided [RCV002609474] Chr3:48446928..48446929 [GRCh38]
Chr3:48488332..48488333 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_130384.3(ATRIP):c.1329C>T (p.Ser443=) single nucleotide variant not provided [RCV002611521] Chr3:48460383 [GRCh38]
Chr3:48501782 [GRCh37]
Chr3:3p21.31		 likely benign
NM_130384.3(ATRIP):c.1624C>T (p.Leu542Phe) single nucleotide variant not provided [RCV002603675] Chr3:48460678 [GRCh38]
Chr3:48502077 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_130384.3(ATRIP):c.1186C>T (p.Arg396Cys) single nucleotide variant not provided [RCV002611569]|not specified [RCV004069118] Chr3:48460240 [GRCh38]
Chr3:48501639 [GRCh37]
Chr3:3p21.31		 likely benign|uncertain significance
NM_130384.3(ATRIP):c.2072C>T (p.Thr691Met) single nucleotide variant not provided [RCV003050799] Chr3:48464847 [GRCh38]
Chr3:48506246 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.635C>T (p.Pro212Leu) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV004789993] Chr3:48467290 [GRCh38]
Chr3:48508689 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.850dup (p.Arg284fs) duplication Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations [RCV004788418] Chr3:48467504..48467505 [GRCh38]
Chr3:48508903..48508904 [GRCh37]
Chr3:3p21.31		 likely pathogenic
NM_130384.3(ATRIP):c.644T>C (p.Leu215Pro) single nucleotide variant not specified [RCV004277545] Chr3:48454391 [GRCh38]
Chr3:48495791 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.599_602dup (p.Leu202fs) duplication not provided [RCV003132946] Chr3:48467253..48467254 [GRCh38]
Chr3:48508652..48508653 [GRCh37]
Chr3:3p21.31		 likely pathogenic
NM_130384.3(ATRIP):c.1763A>G (p.Gln588Arg) single nucleotide variant not specified [RCV004257396] Chr3:48463762 [GRCh38]
Chr3:48505161 [GRCh37]
Chr3:3p21.31		 likely benign
NM_130384.3(ATRIP):c.38G>A (p.Ser13Asn) single nucleotide variant not specified [RCV004273350] Chr3:48446883 [GRCh38]
Chr3:48488287 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.898_899dup (p.Val301fs) duplication not provided [RCV003142763] Chr3:48467552..48467553 [GRCh38]
Chr3:48508951..48508952 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.638A>G (p.Gln213Arg) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV003778810]|not provided [RCV003142764] Chr3:48467293 [GRCh38]
Chr3:48508692 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.354C>T (p.Pro118=) single nucleotide variant not provided [RCV003142765] Chr3:48467009 [GRCh38]
Chr3:48508408 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.446G>T (p.Gly149Val) single nucleotide variant not provided [RCV003142766] Chr3:48467101 [GRCh38]
Chr3:48508500 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_130384.3(ATRIP):c.1085C>G (p.Thr362Ser) single nucleotide variant not specified [RCV004282796] Chr3:48460139 [GRCh38]
Chr3:48501538 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.461A>C (p.Asp154Ala) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV003228864] Chr3:48467116 [GRCh38]
Chr3:48508515 [GRCh37]
Chr3:3p21.31		 likely pathogenic
NM_033629.6(TREX1):c.554G>C (p.Arg185Pro) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV003327334] Chr3:48467209 [GRCh38]
Chr3:48508608 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.633A>G (p.Arg211=) single nucleotide variant not specified [RCV003331950] Chr3:48467288 [GRCh38]
Chr3:48508687 [GRCh37]
Chr3:3p21.31		 likely benign
NM_130384.3(ATRIP):c.593A>C (p.Glu198Ala) single nucleotide variant not specified [RCV004358259] Chr3:48454340 [GRCh38]
Chr3:48495740 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.-26-96G>A single nucleotide variant TREX1-related disorder [RCV004531762] Chr3:48466534 [GRCh38]
Chr3:48507933 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_130384.3(ATRIP):c.85C>G (p.Pro29Ala) single nucleotide variant not specified [RCV004347386] Chr3:48446930 [GRCh38]
Chr3:48488334 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_130384.3(ATRIP):c.1745+5_1745+6insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNTCGTGATCCGCCCGCCTCGGCCTTCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCCTTGCCCAGGTATT insertion not provided [RCV003569833] Chr3:48460790..48460791 [GRCh38]
Chr3:48502189..48502190 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_130384.3(ATRIP):c.2359G>A (p.Glu787Lys) single nucleotide variant not provided [RCV003671138] Chr3:48465537 [GRCh38]
Chr3:48506936 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_130384.3(ATRIP):c.672-15G>A single nucleotide variant not provided [RCV003571770] Chr3:48457244 [GRCh38]
Chr3:48498644 [GRCh37]
Chr3:3p21.31		 likely benign
NM_130384.3(ATRIP):c.1185A>C (p.Ser395=) single nucleotide variant not provided [RCV003543761] Chr3:48460239 [GRCh38]
Chr3:48501638 [GRCh37]
Chr3:3p21.31		 likely benign
NM_130384.3(ATRIP):c.2334C>T (p.Ala778=) single nucleotide variant not provided [RCV003732113] Chr3:48465512 [GRCh38]
Chr3:48506911 [GRCh37]
Chr3:3p21.31		 likely benign
NM_130384.3(ATRIP):c.2288C>A (p.Pro763His) single nucleotide variant not provided [RCV003673259] Chr3:48465063 [GRCh38]
Chr3:48506462 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_130384.3(ATRIP):c.2358C>T (p.Pro786=) single nucleotide variant not provided [RCV003722940] Chr3:48465536 [GRCh38]
Chr3:48506935 [GRCh37]
Chr3:3p21.31		 likely benign
NM_130384.3(ATRIP):c.962T>C (p.Leu321Ser) single nucleotide variant not provided [RCV003543655] Chr3:48459823 [GRCh38]
Chr3:48501222 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.341G>T (p.Arg114Leu) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV003448553] Chr3:48466996 [GRCh38]
Chr3:48508395 [GRCh37]
Chr3:3p21.31		 likely pathogenic|uncertain significance
NM_033629.6(TREX1):c.940del (p.Glu314fs) deletion Retinal dystrophy [RCV003389581] Chr3:48467592 [GRCh38]
Chr3:48508991 [GRCh37]
Chr3:3p21.31		 likely pathogenic
NM_033629.6(TREX1):c.82del (p.Gln28fs) deletion Neurodevelopmental disorder [RCV003389160] Chr3:48466735 [GRCh38]
Chr3:48508134 [GRCh37]
Chr3:3p21.31		 likely pathogenic
NM_033629.6(TREX1):c.84G>C (p.Gln28His) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV003778426]|not provided [RCV003437826] Chr3:48466739 [GRCh38]
Chr3:48508138 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.856G>A (p.Gly286Arg) single nucleotide variant not provided [RCV003433572] Chr3:48467511 [GRCh38]
Chr3:48508910 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.-11C>T single nucleotide variant TREX1-related disorder [RCV004536644] Chr3:48466645 [GRCh38]
Chr3:48508044 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.760C>A (p.Leu254Met) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV003805194] Chr3:48467415 [GRCh38]
Chr3:48508814 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.69C>T (p.Gly23=) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV003795192] Chr3:48466724 [GRCh38]
Chr3:48508123 [GRCh37]
Chr3:3p21.31		 likely benign
NM_033629.6(TREX1):c.425G>C (p.Gly142Ala) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV003797803] Chr3:48467080 [GRCh38]
Chr3:48508479 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.284A>C (p.His95Pro) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV003797245] Chr3:48466939 [GRCh38]
Chr3:48508338 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.471T>C (p.Thr157=) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV003790774] Chr3:48467126 [GRCh38]
Chr3:48508525 [GRCh37]
Chr3:3p21.31		 likely benign
NM_033629.6(TREX1):c.306C>T (p.Asp102=) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV003805290] Chr3:48466961 [GRCh38]
Chr3:48508360 [GRCh37]
Chr3:3p21.31		 likely benign
NM_033629.6(TREX1):c.295T>C (p.Cys99Arg) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV003794063] Chr3:48466950 [GRCh38]
Chr3:48508349 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.871C>T (p.Leu291=) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV003797486] Chr3:48467526 [GRCh38]
Chr3:48508925 [GRCh37]
Chr3:3p21.31		 likely benign
NM_033629.6(TREX1):c.56T>C (p.Met19Thr) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV003791385] Chr3:48466711 [GRCh38]
Chr3:48508110 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.366_367del (p.Ala123fs) deletion Aicardi-Goutieres syndrome 1 [RCV003807097] Chr3:48467021..48467022 [GRCh38]
Chr3:48508420..48508421 [GRCh37]
Chr3:3p21.31		 pathogenic
NM_033629.6(TREX1):c.649C>A (p.Arg217=) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV003807784] Chr3:48467304 [GRCh38]
Chr3:48508703 [GRCh37]
Chr3:3p21.31		 likely benign
NM_033629.6(TREX1):c.574C>T (p.Pro192Ser) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV003807975] Chr3:48467229 [GRCh38]
Chr3:48508628 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.440T>C (p.Leu147Pro) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV003805929] Chr3:48467095 [GRCh38]
Chr3:48508494 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_130384.3(ATRIP):c.704C>T (p.Pro235Leu) single nucleotide variant not provided [RCV003739968]|not specified [RCV004374154] Chr3:48457291 [GRCh38]
Chr3:48498691 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.915T>C (p.Tyr305=) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV003806124] Chr3:48467570 [GRCh38]
Chr3:48508969 [GRCh37]
Chr3:3p21.31		 likely benign
NM_033629.6(TREX1):c.205_206del (p.Leu69fs) deletion Aicardi-Goutieres syndrome 1 [RCV003807754] Chr3:48466860..48466861 [GRCh38]
Chr3:48508259..48508260 [GRCh37]
Chr3:3p21.31		 pathogenic
NM_033629.6(TREX1):c.371_381del (p.His124fs) deletion Aicardi-Goutieres syndrome 1 [RCV003807761] Chr3:48467024..48467034 [GRCh38]
Chr3:48508423..48508433 [GRCh37]
Chr3:3p21.31		 pathogenic
NM_033629.6(TREX1):c.213G>A (p.Val71=) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV003804746] Chr3:48466868 [GRCh38]
Chr3:48508267 [GRCh37]
Chr3:3p21.31		 likely benign
NM_033629.6(TREX1):c.873G>A (p.Leu291=) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV003788036] Chr3:48467528 [GRCh38]
Chr3:48508927 [GRCh37]
Chr3:3p21.31		 likely benign
NM_033629.6(TREX1):c.705C>T (p.Val235=) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV003794604] Chr3:48467360 [GRCh38]
Chr3:48508759 [GRCh37]
Chr3:3p21.31		 likely benign
NM_033629.6(TREX1):c.703del (p.Val235fs) deletion Aicardi-Goutieres syndrome 1 [RCV003806168] Chr3:48467355 [GRCh38]
Chr3:48508754 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.400C>A (p.Leu134Ile) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV003805140] Chr3:48467055 [GRCh38]
Chr3:48508454 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.302A>G (p.Asp101Gly) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV003805892] Chr3:48466957 [GRCh38]
Chr3:48508356 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.259C>G (p.Leu87Val) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV003792187] Chr3:48466914 [GRCh38]
Chr3:48508313 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.495A>G (p.Ala165=) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV003794341] Chr3:48467150 [GRCh38]
Chr3:48508549 [GRCh37]
Chr3:3p21.31		 likely benign
NM_033629.6(TREX1):c.830A>G (p.Lys277Arg) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV003795681] Chr3:48467485 [GRCh38]
Chr3:48508884 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.930C>A (p.Ala310=) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV003804666] Chr3:48467585 [GRCh38]
Chr3:48508984 [GRCh37]
Chr3:3p21.31		 likely benign
NM_130384.3(ATRIP):c.1581G>T (p.Arg527Ser) single nucleotide variant not provided [RCV003881997] Chr3:48460635 [GRCh38]
Chr3:48502034 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.247G>C (p.Glu83Gln) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV003793221] Chr3:48466902 [GRCh38]
Chr3:48508301 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_130384.3(ATRIP):c.196C>T (p.Leu66Phe) single nucleotide variant not provided [RCV003830664] Chr3:48447041 [GRCh38]
Chr3:48488445 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.72G>A (p.Leu24=) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV003790004] Chr3:48466727 [GRCh38]
Chr3:48508126 [GRCh37]
Chr3:3p21.31		 likely benign
NM_033629.6(TREX1):c.194A>G (p.Asp65Gly) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV003793392] Chr3:48466849 [GRCh38]
Chr3:48508248 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.642C>G (p.Ala214=) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV003790630] Chr3:48467297 [GRCh38]
Chr3:48508696 [GRCh37]
Chr3:3p21.31		 likely benign
NM_033629.6(TREX1):c.294_296dup (p.Cys99Ter) duplication Aicardi-Goutieres syndrome 1 [RCV003791867] Chr3:48466948..48466949 [GRCh38]
Chr3:48508347..48508348 [GRCh37]
Chr3:3p21.31		 pathogenic
NM_033629.6(TREX1):c.6C>T (p.Gly2=) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV003793514] Chr3:48466661 [GRCh38]
Chr3:48508060 [GRCh37]
Chr3:3p21.31		 likely benign
NM_033629.6(TREX1):c.664C>A (p.His222Asn) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV003796012] Chr3:48467319 [GRCh38]
Chr3:48508718 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.76_80dup (p.Gln28fs) duplication Aicardi-Goutieres syndrome 1 [RCV003806216] Chr3:48466729..48466730 [GRCh38]
Chr3:48508128..48508129 [GRCh37]
Chr3:3p21.31		 pathogenic
NM_033629.6(TREX1):c.815A>T (p.Asp272Val) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV003790564] Chr3:48467470 [GRCh38]
Chr3:48508869 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_130384.3(ATRIP):c.1747T>G (p.Phe583Val) single nucleotide variant not provided [RCV003691650] Chr3:48463746 [GRCh38]
Chr3:48505145 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.466A>G (p.Ile156Val) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV003782600] Chr3:48467121 [GRCh38]
Chr3:48508520 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.666C>T (p.His222=) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV003804882] Chr3:48467321 [GRCh38]
Chr3:48508720 [GRCh37]
Chr3:3p21.31		 likely benign
NM_033629.6(TREX1):c.75C>G (p.Pro25=) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV003806643] Chr3:48466730 [GRCh38]
Chr3:48508129 [GRCh37]
Chr3:3p21.31		 likely benign
NM_033629.6(TREX1):c.139C>T (p.Pro47Ser) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV003786135] Chr3:48466794 [GRCh38]
Chr3:48508193 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.662C>T (p.Ala221Val) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV003796085] Chr3:48467317 [GRCh38]
Chr3:48508716 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_130384.3(ATRIP):c.2235G>C (p.Leu745=) single nucleotide variant not provided [RCV003827554] Chr3:48465010 [GRCh38]
Chr3:48506409 [GRCh37]
Chr3:3p21.31		 likely benign
NM_033629.6(TREX1):c.503C>T (p.Pro168Leu) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV003779408] Chr3:48467158 [GRCh38]
Chr3:48508557 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.921A>G (p.Leu307=) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV003794262] Chr3:48467576 [GRCh38]
Chr3:48508975 [GRCh37]
Chr3:3p21.31		 likely benign
NM_033629.6(TREX1):c.448G>A (p.Ala150Thr) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV003779483] Chr3:48467103 [GRCh38]
Chr3:48508502 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_130384.3(ATRIP):c.1564A>G (p.Met522Val) single nucleotide variant not provided [RCV003831025]|not specified [RCV004676304] Chr3:48460618 [GRCh38]
Chr3:48502017 [GRCh37]
Chr3:3p21.31		 likely benign|uncertain significance
NM_033629.6(TREX1):c.450C>G (p.Ala150=) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV003784135] Chr3:48467105 [GRCh38]
Chr3:48508504 [GRCh37]
Chr3:3p21.31		 likely benign
NM_130384.3(ATRIP):c.1819G>A (p.Val607Ile) single nucleotide variant not provided [RCV003694592] Chr3:48463818 [GRCh38]
Chr3:48505217 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.918A>G (p.Gly306=) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV003806811] Chr3:48467573 [GRCh38]
Chr3:48508972 [GRCh37]
Chr3:3p21.31		 likely benign
NM_033629.6(TREX1):c.781A>G (p.Ser261Gly) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV003792196] Chr3:48467436 [GRCh38]
Chr3:48508835 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_130384.3(ATRIP):c.443C>T (p.Ser148Leu) single nucleotide variant not provided [RCV003547131] Chr3:48451790 [GRCh38]
Chr3:48493196 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.505T>C (p.Ser169Pro) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV003794460] Chr3:48467160 [GRCh38]
Chr3:48508559 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.873G>C (p.Leu291=) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV003806477] Chr3:48467528 [GRCh38]
Chr3:48508927 [GRCh37]
Chr3:3p21.31		 likely benign
NM_033629.6(TREX1):c.589G>A (p.Ala197Thr) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV003804081] Chr3:48467244 [GRCh38]
Chr3:48508643 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.226_233dup (p.Ser78fs) duplication Aicardi-Goutieres syndrome 1 [RCV003787660] Chr3:48466878..48466879 [GRCh38]
Chr3:48508277..48508278 [GRCh37]
Chr3:3p21.31		 pathogenic
NM_130384.3(ATRIP):c.27C>G (p.Ser9Arg) single nucleotide variant not provided [RCV003687033] Chr3:48446872 [GRCh38]
Chr3:48488276 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.806G>T (p.Gly269Val) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV003788340] Chr3:48467461 [GRCh38]
Chr3:48508860 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.465C>T (p.Ser155=) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV003793202] Chr3:48467120 [GRCh38]
Chr3:48508519 [GRCh37]
Chr3:3p21.31		 likely benign
NM_033629.6(TREX1):c.491G>T (p.Arg164Leu) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV003792123] Chr3:48467146 [GRCh38]
Chr3:48508545 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.889C>T (p.Leu297=) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV003793268] Chr3:48467544 [GRCh38]
Chr3:48508943 [GRCh37]
Chr3:3p21.31		 likely benign
NM_033629.6(TREX1):c.15C>T (p.Ala5=) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV003793746] Chr3:48466670 [GRCh38]
Chr3:48508069 [GRCh37]
Chr3:3p21.31		 likely benign
NM_033629.6(TREX1):c.391T>A (p.Phe131Ile) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV003791140] Chr3:48467046 [GRCh38]
Chr3:48508445 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.522_523delinsTT (p.Arg174_Lys175delinsSerTer) indel Aicardi-Goutieres syndrome 1 [RCV003791181] Chr3:48467177..48467178 [GRCh38]
Chr3:48508576..48508577 [GRCh37]
Chr3:3p21.31		 pathogenic
NM_130384.3(ATRIP):c.1745+14T>A single nucleotide variant not provided [RCV003688788] Chr3:48460813 [GRCh38]
Chr3:48502212 [GRCh37]
Chr3:3p21.31		 likely benign
NM_033629.6(TREX1):c.165C>T (p.Pro55=) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV003787466] Chr3:48466820 [GRCh38]
Chr3:48508219 [GRCh37]
Chr3:3p21.31		 likely benign
NM_033629.6(TREX1):c.600T>C (p.Asp200=) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV003783035] Chr3:48467255 [GRCh38]
Chr3:48508654 [GRCh37]
Chr3:3p21.31		 likely benign
NM_130384.3(ATRIP):c.1705G>T (p.Val569Leu) single nucleotide variant not provided [RCV003882592]|not specified [RCV004369672] Chr3:48460759 [GRCh38]
Chr3:48502158 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_130384.3(ATRIP):c.2292T>C (p.Asp764=) single nucleotide variant not provided [RCV003826935] Chr3:48465067 [GRCh38]
Chr3:48506466 [GRCh37]
Chr3:3p21.31		 likely benign
NM_033629.6(TREX1):c.130del (p.Leu44fs) deletion Aicardi-Goutieres syndrome 1 [RCV003782646] Chr3:48466783 [GRCh38]
Chr3:48508182 [GRCh37]
Chr3:3p21.31		 pathogenic
NM_033629.6(TREX1):c.314C>T (p.Ala105Val) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV003788729] Chr3:48466969 [GRCh38]
Chr3:48508368 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.21C>A (p.Pro7=) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV003789415] Chr3:48466676 [GRCh38]
Chr3:48508075 [GRCh37]
Chr3:3p21.31		 likely benign
NM_033629.6(TREX1):c.521G>A (p.Arg174Lys) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV003786638] Chr3:48467176 [GRCh38]
Chr3:48508575 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.735A>T (p.Pro245=) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV003808907] Chr3:48467390 [GRCh38]
Chr3:48508789 [GRCh37]
Chr3:3p21.31		 likely benign
NM_033629.6(TREX1):c.140C>A (p.Pro47His) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV003798866] Chr3:48466795 [GRCh38]
Chr3:48508194 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.391T>C (p.Phe131Leu) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV003798931] Chr3:48467046 [GRCh38]
Chr3:48508445 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.645G>A (p.Leu215=) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV003799983] Chr3:48467300 [GRCh38]
Chr3:48508699 [GRCh37]
Chr3:3p21.31		 likely benign
NM_033629.6(TREX1):c.142C>T (p.Pro48Ser) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV003799223] Chr3:48466797 [GRCh38]
Chr3:48508196 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.531_548del (p.Ser178_Tyr183del) deletion Aicardi-Goutieres syndrome 1 [RCV003799330] Chr3:48467183..48467200 [GRCh38]
Chr3:48508582..48508599 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_130384.3(ATRIP):c.2309-3C>T single nucleotide variant not provided [RCV003665892] Chr3:48465484 [GRCh38]
Chr3:48506883 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.519A>G (p.Pro173=) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV003800479] Chr3:48467174 [GRCh38]
Chr3:48508573 [GRCh37]
Chr3:3p21.31		 likely benign
NM_130384.3(ATRIP):c.1485A>G (p.Leu495=) single nucleotide variant not provided [RCV003835574] Chr3:48460539 [GRCh38]
Chr3:48501938 [GRCh37]
Chr3:3p21.31		 likely benign
NM_033629.6(TREX1):c.216T>A (p.Ala72=) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV003812886] Chr3:48466871 [GRCh38]
Chr3:48508270 [GRCh37]
Chr3:3p21.31		 likely benign
NM_033629.6(TREX1):c.207G>T (p.Leu69=) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV003812977] Chr3:48466862 [GRCh38]
Chr3:48508261 [GRCh37]
Chr3:3p21.31		 likely benign
NM_033629.6(TREX1):c.324C>T (p.Leu108=) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV003808738] Chr3:48466979 [GRCh38]
Chr3:48508378 [GRCh37]
Chr3:3p21.31		 likely benign
NM_033629.6(TREX1):c.298T>C (p.Phe100Leu) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV003813371] Chr3:48466953 [GRCh38]
Chr3:48508352 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.787A>C (p.Ser263Arg) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV003800752] Chr3:48467442 [GRCh38]
Chr3:48508841 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.102G>A (p.Leu34=) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV003800732] Chr3:48466757 [GRCh38]
Chr3:48508156 [GRCh37]
Chr3:3p21.31		 likely benign
NM_033629.6(TREX1):c.902dup (p.Ala302fs) duplication Aicardi-Goutieres syndrome 1 [RCV003815484] Chr3:48467556..48467557 [GRCh38]
Chr3:48508955..48508956 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.294A>C (p.Gln98His) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV003808619] Chr3:48466949 [GRCh38]
Chr3:48508348 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.769A>G (p.Thr257Ala) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV003809173] Chr3:48467424 [GRCh38]
Chr3:48508823 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.30C>G (p.Pro10=) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV003801696] Chr3:48466685 [GRCh38]
Chr3:48508084 [GRCh37]
Chr3:3p21.31		 likely benign
NM_130384.3(ATRIP):c.1112C>G (p.Ser371Cys) single nucleotide variant not provided [RCV003839628] Chr3:48460166 [GRCh38]
Chr3:48501565 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_130384.3(ATRIP):c.1953A>G (p.Gln651=) single nucleotide variant not provided [RCV003840325] Chr3:48464111 [GRCh38]
Chr3:48505510 [GRCh37]
Chr3:3p21.31		 likely benign
NM_033629.6(TREX1):c.178C>T (p.Pro60Ser) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV003801901]|Retinal dystrophy [RCV004818417] Chr3:48466833 [GRCh38]
Chr3:48508232 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_130384.3(ATRIP):c.926-7T>C single nucleotide variant not provided [RCV003668489] Chr3:48459780 [GRCh38]
Chr3:48501179 [GRCh37]
Chr3:3p21.31		 likely benign
NM_130384.3(ATRIP):c.2074G>A (p.Val692Met) single nucleotide variant not provided [RCV003849574] Chr3:48464849 [GRCh38]
Chr3:48506248 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.565C>T (p.Gln189Ter) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV003801502] Chr3:48467220 [GRCh38]
Chr3:48508619 [GRCh37]
Chr3:3p21.31		 pathogenic
NM_130384.3(ATRIP):c.1545C>T (p.His515=) single nucleotide variant not provided [RCV003816420] Chr3:48460599 [GRCh38]
Chr3:48501998 [GRCh37]
Chr3:3p21.31		 likely benign
NM_033629.6(TREX1):c.786C>T (p.Pro262=) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV003809081] Chr3:48467441 [GRCh38]
Chr3:48508840 [GRCh37]
Chr3:3p21.31		 likely benign
NM_033629.6(TREX1):c.663T>A (p.Ala221=) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV003801011] Chr3:48467318 [GRCh38]
Chr3:48508717 [GRCh37]
Chr3:3p21.31		 likely benign
NM_130384.3(ATRIP):c.2150T>C (p.Val717Ala) single nucleotide variant not provided [RCV003671676] Chr3:48464925 [GRCh38]
Chr3:48506324 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_130384.3(ATRIP):c.2009G>A (p.Ser670Asn) single nucleotide variant not provided [RCV003717066] Chr3:48464616 [GRCh38]
Chr3:48506015 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.753T>G (p.Thr251=) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV003801583] Chr3:48467408 [GRCh38]
Chr3:48508807 [GRCh37]
Chr3:3p21.31		 likely benign
NM_130384.3(ATRIP):c.2212A>G (p.Met738Val) single nucleotide variant not provided [RCV003671835] Chr3:48464987 [GRCh38]
Chr3:48506386 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_130384.3(ATRIP):c.2223C>T (p.Cys741=) single nucleotide variant not provided [RCV003699498] Chr3:48464998 [GRCh38]
Chr3:48506397 [GRCh37]
Chr3:3p21.31		 likely benign
NM_130384.3(ATRIP):c.174C>A (p.Asp58Glu) single nucleotide variant not provided [RCV003855763] Chr3:48447019 [GRCh38]
Chr3:48488423 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_130384.3(ATRIP):c.1099G>A (p.Asp367Asn) single nucleotide variant not provided [RCV003673600] Chr3:48460153 [GRCh38]
Chr3:48501552 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.502C>T (p.Pro168Ser) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV003812267] Chr3:48467157 [GRCh38]
Chr3:48508556 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_130384.3(ATRIP):c.1733A>C (p.Asp578Ala) single nucleotide variant not provided [RCV003667167] Chr3:48460787 [GRCh38]
Chr3:48502186 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.18G>C (p.Leu6=) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV003813587] Chr3:48466673 [GRCh38]
Chr3:48508072 [GRCh37]
Chr3:3p21.31		 likely benign
NM_033629.6(TREX1):c.143C>G (p.Pro48Arg) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV003798939] Chr3:48466798 [GRCh38]
Chr3:48508197 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.495A>C (p.Ala165=) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV003817693] Chr3:48467150 [GRCh38]
Chr3:48508549 [GRCh37]
Chr3:3p21.31		 likely benign
NM_130384.3(ATRIP):c.2055+14G>A single nucleotide variant not provided [RCV003816702] Chr3:48464676 [GRCh38]
Chr3:48506075 [GRCh37]
Chr3:3p21.31		 likely benign
NM_033629.6(TREX1):c.558G>C (p.Leu186=) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV003801440] Chr3:48467213 [GRCh38]
Chr3:48508612 [GRCh37]
Chr3:3p21.31		 likely benign
NM_033629.6(TREX1):c.54C>T (p.Asp18=) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV003799844] Chr3:48466709 [GRCh38]
Chr3:48508108 [GRCh37]
Chr3:3p21.31		 likely benign
NM_130384.3(ATRIP):c.671+20del deletion not provided [RCV003834997] Chr3:48454436 [GRCh38]
Chr3:48495836 [GRCh37]
Chr3:3p21.31		 likely benign
NM_033629.6(TREX1):c.55dup (p.Met19fs) duplication Aicardi-Goutieres syndrome 1 [RCV003800676] Chr3:48466709..48466710 [GRCh38]
Chr3:48508108..48508109 [GRCh37]
Chr3:3p21.31		 pathogenic
NM_033629.6(TREX1):c.710_711insG (p.Ser238fs) insertion Aicardi-Goutieres syndrome 1 [RCV003812640] Chr3:48467365..48467366 [GRCh38]
Chr3:48508764..48508765 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.382_390del (p.Arg128_Asp130del) deletion Aicardi-Goutieres syndrome 1 [RCV003800405] Chr3:48467034..48467042 [GRCh38]
Chr3:48508433..48508441 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_130384.3(ATRIP):c.1994A>G (p.Lys665Arg) single nucleotide variant not provided [RCV003854747] Chr3:48464601 [GRCh38]
Chr3:48506000 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.349C>T (p.Gln117Ter) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV003799082] Chr3:48467004 [GRCh38]
Chr3:48508403 [GRCh37]
Chr3:3p21.31		 pathogenic
NM_033629.6(TREX1):c.141_151del (p.Pro48fs) deletion Aicardi-Goutieres syndrome 1 [RCV003815341] Chr3:48466795..48466805 [GRCh38]
Chr3:48508194..48508204 [GRCh37]
Chr3:3p21.31		 pathogenic
NM_130384.3(ATRIP):c.2073G>A (p.Thr691=) single nucleotide variant not provided [RCV003724380] Chr3:48464848 [GRCh38]
Chr3:48506247 [GRCh37]
Chr3:3p21.31		 likely benign
NM_130384.3(ATRIP):c.1019C>T (p.Pro340Leu) single nucleotide variant not provided [RCV003732625] Chr3:48459880 [GRCh38]
Chr3:48501279 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_130384.3(ATRIP):c.2359_2360delinsAG (p.Glu787Arg) indel not provided [RCV003848388] Chr3:48465537..48465538 [GRCh38]
Chr3:48506936..48506937 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_130384.3(ATRIP):c.1225_1226delinsTT (p.Pro409Leu) indel not provided [RCV003729741] Chr3:48460279..48460280 [GRCh38]
Chr3:48501678..48501679 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.524_526dup (p.Lys175_Ser176insLys) duplication Aicardi-Goutieres syndrome 1 [RCV003803110] Chr3:48467176..48467177 [GRCh38]
Chr3:48508575..48508576 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_130384.3(ATRIP):c.293C>T (p.Pro98Leu) single nucleotide variant not provided [RCV003729297] Chr3:48450082 [GRCh38]
Chr3:48491488 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_130384.3(ATRIP):c.632G>A (p.Arg211Gln) single nucleotide variant not provided [RCV003731692]|not specified [RCV004374219] Chr3:48454379 [GRCh38]
Chr3:48495779 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_130384.3(ATRIP):c.1477G>A (p.Val493Ile) single nucleotide variant not provided [RCV003554443] Chr3:48460531 [GRCh38]
Chr3:48501930 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_130384.3(ATRIP):c.2336C>T (p.Ala779Val) single nucleotide variant not provided [RCV003822766]|not specified [RCV004366766] Chr3:48465514 [GRCh38]
Chr3:48506913 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_130384.3(ATRIP):c.217C>T (p.Gln73Ter) single nucleotide variant not provided [RCV003862052] Chr3:48447062 [GRCh38]
Chr3:48488466 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.518C>T (p.Pro173Leu) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV003802792] Chr3:48467173 [GRCh38]
Chr3:48508572 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_130384.3(ATRIP):c.926-6C>T single nucleotide variant not provided [RCV003733042] Chr3:48459781 [GRCh38]
Chr3:48501180 [GRCh37]
Chr3:3p21.31		 likely benign
NM_130384.3(ATRIP):c.1073C>T (p.Ser358Leu) single nucleotide variant not provided [RCV003736146]|not specified [RCV004374367] Chr3:48460127 [GRCh38]
Chr3:48501526 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_130384.3(ATRIP):c.1330G>A (p.Gly444Arg) single nucleotide variant not provided [RCV003554013] Chr3:48460384 [GRCh38]
Chr3:48501783 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_130384.3(ATRIP):c.2192C>A (p.Ser731Ter) single nucleotide variant not provided [RCV003858347] Chr3:48464967 [GRCh38]
Chr3:48506366 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_130384.3(ATRIP):c.2169G>A (p.Thr723=) single nucleotide variant not provided [RCV003732182] Chr3:48464944 [GRCh38]
Chr3:48506343 [GRCh37]
Chr3:3p21.31		 likely benign
NM_130384.3(ATRIP):c.1924C>T (p.Arg642Trp) single nucleotide variant not provided [RCV003861035] Chr3:48464082 [GRCh38]
Chr3:48505481 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_130384.3(ATRIP):c.1910T>C (p.Met637Thr) single nucleotide variant not provided [RCV003862985] Chr3:48464068 [GRCh38]
Chr3:48505467 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.670A>C (p.Arg224=) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV003802030] Chr3:48467325 [GRCh38]
Chr3:48508724 [GRCh37]
Chr3:3p21.31		 likely benign
NM_130384.3(ATRIP):c.522C>G (p.Leu174=) single nucleotide variant not provided [RCV003819468] Chr3:48451869 [GRCh38]
Chr3:48493275 [GRCh37]
Chr3:3p21.31		 likely benign
NM_130384.3(ATRIP):c.32G>C (p.Arg11Thr) single nucleotide variant not provided [RCV003859761] Chr3:48446877 [GRCh38]
Chr3:48488281 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.378T>C (p.Gly126=) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV003802249] Chr3:48467033 [GRCh38]
Chr3:48508432 [GRCh37]
Chr3:3p21.31		 likely benign
NM_130384.3(ATRIP):c.240C>T (p.Asp80=) single nucleotide variant not provided [RCV003557332] Chr3:48447085 [GRCh38]
Chr3:48488489 [GRCh37]
Chr3:3p21.31		 likely benign
NM_130384.3(ATRIP):c.1125G>A (p.Leu375=) single nucleotide variant not provided [RCV003737226] Chr3:48460179 [GRCh38]
Chr3:48501578 [GRCh37]
Chr3:3p21.31		 likely benign
NM_130384.3(ATRIP):c.34C>T (p.Arg12Trp) single nucleotide variant not provided [RCV003867380] Chr3:48446879 [GRCh38]
Chr3:48488283 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_130384.3(ATRIP):c.1817C>T (p.Ala606Val) single nucleotide variant not provided [RCV003556599] Chr3:48463816 [GRCh38]
Chr3:48505215 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.655G>T (p.Val219Leu) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV003803144] Chr3:48467310 [GRCh38]
Chr3:48508709 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_130384.3(ATRIP):c.772T>C (p.Ser258Pro) single nucleotide variant not provided [RCV003676926] Chr3:48457359 [GRCh38]
Chr3:48498759 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_130384.3(ATRIP):c.726T>G (p.Phe242Leu) single nucleotide variant not provided [RCV003859394] Chr3:48457313 [GRCh38]
Chr3:48498713 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.663T>G (p.Ala221=) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV003802029] Chr3:48467318 [GRCh38]
Chr3:48508717 [GRCh37]
Chr3:3p21.31		 likely benign
NM_033629.6(TREX1):c.901G>A (p.Val301Ile) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV003803297] Chr3:48467556 [GRCh38]
Chr3:48508955 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_130384.3(ATRIP):c.1883-16G>A single nucleotide variant not provided [RCV003670895] Chr3:48464025 [GRCh38]
Chr3:48505424 [GRCh37]
Chr3:3p21.31		 likely benign
NM_130384.3(ATRIP):c.1954T>C (p.Trp652Arg) single nucleotide variant not provided [RCV003868783] Chr3:48464112 [GRCh38]
Chr3:48505511 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_130384.3(ATRIP):c.2056-9C>A single nucleotide variant not provided [RCV003869997] Chr3:48464822 [GRCh38]
Chr3:48506221 [GRCh37]
Chr3:3p21.31		 likely benign
NM_033629.6(TREX1):c.69dup (p.Pro25fs) duplication Aicardi-Goutieres syndrome 1 [RCV003803990] Chr3:48466723..48466724 [GRCh38]
Chr3:48508122..48508123 [GRCh37]
Chr3:3p21.31		 pathogenic
NM_130384.3(ATRIP):c.1047G>A (p.Gly349=) single nucleotide variant not provided [RCV003859146] Chr3:48459908 [GRCh38]
Chr3:48501307 [GRCh37]
Chr3:3p21.31		 likely benign
NM_130384.3(ATRIP):c.1495G>C (p.Gly499Arg) single nucleotide variant not provided [RCV003707501] Chr3:48460549 [GRCh38]
Chr3:48501948 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_130384.3(ATRIP):c.1685C>A (p.Thr562Asn) single nucleotide variant not provided [RCV003730893] Chr3:48460739 [GRCh38]
Chr3:48502138 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.408A>G (p.Ala136=) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV003803406] Chr3:48467063 [GRCh38]
Chr3:48508462 [GRCh37]
Chr3:3p21.31		 likely benign
NM_130384.3(ATRIP):c.1120G>A (p.Ala374Thr) single nucleotide variant not provided [RCV003823982] Chr3:48460174 [GRCh38]
Chr3:48501573 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.736T>C (p.Ser246Pro) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV003803830] Chr3:48467391 [GRCh38]
Chr3:48508790 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_130384.3(ATRIP):c.155A>G (p.His52Arg) single nucleotide variant not provided [RCV003705097] Chr3:48447000 [GRCh38]
Chr3:48488404 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_130384.3(ATRIP):c.395AAG[2] (p.Glu134del) microsatellite not provided [RCV003843490] Chr3:48451741..48451743 [GRCh38]
Chr3:48493147..48493149 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_130384.3(ATRIP):c.225G>A (p.Pro75=) single nucleotide variant not provided [RCV003822401] Chr3:48447070 [GRCh38]
Chr3:48488474 [GRCh37]
Chr3:3p21.31		 likely benign
NM_033629.6(TREX1):c.249G>A (p.Glu83=) single nucleotide variant Aicardi-Goutieres syndrome 1 [RCV003802530] Chr3:48466904 [GRCh38]
Chr3:48508303 [GRCh37]
Chr3:3p21.31		 likely benign
NM_130384.3(ATRIP):c.2309-8dup duplication not provided [RCV003846839] Chr3:48465474..48465475 [GRCh38]
Chr3:48506873..48506874 [GRCh37]
Chr3:3p21.31		 benign
NM_130384.3(ATRIP):c.1175A>G (p.Asn392Ser) single nucleotide variant not provided [RCV003822635] Chr3:48460229 [GRCh38]
Chr3:48501628 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_130384.3(ATRIP):c.2057T>A (p.Val686Glu) single nucleotide variant not specified [RCV004421051] Chr3:48464832 [GRCh38]
Chr3:48506231 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_130384.3(ATRIP):c.224C>G (p.Pro75Arg) single nucleotide variant not specified [RCV004421053] Chr3:48447069 [GRCh38]
Chr3:48488473 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_130384.3(ATRIP):c.2360A>G (p.Glu787Gly) single nucleotide variant not specified [RCV004421055] Chr3:48465538 [GRCh38]
Chr3:48506937 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_130384.3(ATRIP):c.766A>G (p.Asn256Asp) single nucleotide variant not specified [RCV004421056] Chr3:48457353 [GRCh38]
Chr3:48498753 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_130384.3(ATRIP):c.1649C>T (p.Ser550Phe) single nucleotide variant not specified [RCV004421049] Chr3:48460703 [GRCh38]
Chr3:48502102 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_130384.3(ATRIP):c.1084A>C (p.Thr362Pro) single nucleotide variant not specified [RCV004421042] Chr3:48460138 [GRCh38]
Chr3:48501537 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_130384.3(ATRIP):c.1225C>T (p.Pro409Ser) single nucleotide variant not specified [RCV004421043] Chr3:48460279 [GRCh38]
Chr3:48501678 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_130384.3(ATRIP):c.994C>T (p.Leu332Phe) single nucleotide variant not specified [RCV004421057] Chr3:48459855 [GRCh38]
Chr3:48501254 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_130384.3(ATRIP):c.1226C>T (p.Pro409Leu) single nucleotide variant not specified [RCV004421044] Chr3:48460280 [GRCh38]
Chr3:48501679 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_130384.3(ATRIP):c.1504G>A (p.Ala502Thr) single nucleotide variant not specified [RCV004421045] Chr3:48460558 [GRCh38]
Chr3:48501957 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_130384.3(ATRIP):c.2023G>A (p.Val675Ile) single nucleotide variant not specified [RCV004421050] Chr3:48464630 [GRCh38]
Chr3:48506029 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_130384.3(ATRIP):c.22G>A (p.Gly8Ser) single nucleotide variant not specified [RCV004421054] Chr3:48446867 [GRCh38]
Chr3:48488271 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.-26-95G>T single nucleotide variant TREX1-related disorder [RCV004537080] Chr3:48466535 [GRCh38]
Chr3:48507934 [GRCh37]
Chr3:3p21.31		 likely benign
NM_033629.6(TREX1):c.-26-57C>T single nucleotide variant TREX1-related disorder [RCV004534633] Chr3:48466573 [GRCh38]
Chr3:48507972 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.50T>C (p.Phe17Ser) single nucleotide variant TREX1-related disorder [RCV004531789]|not specified [RCV004587584] Chr3:48466705 [GRCh38]
Chr3:48508104 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_130384.3(ATRIP):c.1581G>C (p.Arg527Ser) single nucleotide variant not specified [RCV004421046] Chr3:48460635 [GRCh38]
Chr3:48502034 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_130384.3(ATRIP):c.1630C>T (p.His544Tyr) single nucleotide variant not specified [RCV004421047] Chr3:48460684 [GRCh38]
Chr3:48502083 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_130384.3(ATRIP):c.1649C>A (p.Ser550Tyr) single nucleotide variant not specified [RCV004421048] Chr3:48460703 [GRCh38]
Chr3:48502102 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.266C>T (p.Thr89Ile) single nucleotide variant Inborn genetic diseases [RCV004473550] Chr3:48466921 [GRCh38]
Chr3:48508320 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.131T>A (p.Leu44Gln) single nucleotide variant Inborn genetic diseases [RCV004473547] Chr3:48466786 [GRCh38]
Chr3:48508185 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.164C>T (p.Pro55Leu) single nucleotide variant Inborn genetic diseases [RCV004473548] Chr3:48466819 [GRCh38]
Chr3:48508218 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_130384.3(ATRIP):c.1099G>C (p.Asp367His) single nucleotide variant not specified [RCV004688680] Chr3:48460153 [GRCh38]
Chr3:48501552 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_130384.3(ATRIP):c.1681C>T (p.Leu561=) single nucleotide variant not provided [RCV004811153] Chr3:48460735 [GRCh38]
Chr3:48502134 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.780T>C (p.Thr260=) single nucleotide variant not provided [RCV004811434] Chr3:48467435 [GRCh38]
Chr3:48508834 [GRCh37]
Chr3:3p21.31		 likely benign
NM_033629.6(TREX1):c.774del (p.Asn259fs) deletion TREX1-related disorder [RCV004733779] Chr3:48467428 [GRCh38]
Chr3:48508827 [GRCh37]
Chr3:3p21.31		 likely pathogenic
NM_033629.6(TREX1):c.371A>G (p.His124Arg) single nucleotide variant not provided [RCV004795212] Chr3:48467026 [GRCh38]
Chr3:48508425 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_033629.6(TREX1):c.558_573dup (p.Pro192fs) duplication Chilblain lupus 1 [RCV004767683] Chr3:48467209..48467210 [GRCh38]
Chr3:48508608..48508609 [GRCh37]
Chr3:3p21.31		 likely pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2648
Count of miRNA genes:883
Interacting mature miRNAs:1057
Transcripts:ENST00000320211, ENST00000346691, ENST00000357105, ENST00000412052, ENST00000421175, ENST00000424906, ENST00000454733, ENST00000491468
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
1298487BFD1_HBody fluid distribution QTL 1 (human)3.94Body fluid distributionimpedance ratio33638071262380712Human
597355101GWAS1451175_Hbody height QTL GWAS1451175 (human)1e-09body height (VT:0001253)body height (CMO:0000106)34844878848448789Human
597371074GWAS1467148_HIGFBP-3 measurement QTL GWAS1467148 (human)0.000006IGFBP-3 measurement34846617648466177Human
1298489RA4_HRheumatoid arthritis QTL 4 (human)0.0283Joint/bone inflammationrheumatoid arthritis33638071262380712Human
597295137GWAS1391211_Hmigraine disorder QTL GWAS1391211 (human)4e-08migraine disorder34845705648457057Human
1643509BW293_HBody Weight QTL 293 (human)1.42Body weightBMI33638071262380712Human
2316061GLUCO194_HGlucose level QTL 194 (human)0.02Glucose level32338077449380774Human
2289308BW392_HBody weight QTL 392 (human)1.42Body weightBMI33638071262380712Human

Markers in Region
STS-Z41083  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37348,506,987 - 48,507,040UniSTSGRCh37
Build 36348,481,991 - 48,482,044RGDNCBI36
Celera348,457,846 - 48,457,899RGD
Cytogenetic Map3p21.31UniSTS
HuRef348,561,017 - 48,561,070UniSTS
GeneMap99-GB4 RH Map3158.56UniSTS
WI-21042  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37348,506,972 - 48,507,048UniSTSGRCh37
Build 36348,481,976 - 48,482,052RGDNCBI36
Celera348,457,831 - 48,457,907RGD
Cytogenetic Map3p21.31UniSTS
HuRef348,561,002 - 48,561,078UniSTS
GeneMap99-GB4 RH Map3157.44UniSTS
Whitehead-RH Map3196.7UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2436 2787 2249 4973 1722 2341 5 619 1939 461 2270 7286 6460 53 3733 1 852 1742 1611 174 1

Sequence


Ensembl Acc Id: ENST00000320211   ⟹   ENSP00000323099
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl348,446,737 - 48,467,645 (+)Ensembl
Ensembl Acc Id: ENST00000346691   ⟹   ENSP00000302338
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl348,446,733 - 48,465,655 (+)Ensembl
Ensembl Acc Id: ENST00000357105   ⟹   ENSP00000349620
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl348,446,710 - 48,465,655 (+)Ensembl
Ensembl Acc Id: ENST00000412052   ⟹   ENSP00000400930
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl348,447,093 - 48,465,716 (+)Ensembl
Ensembl Acc Id: ENST00000634384   ⟹   ENSP00000489041
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl348,454,310 - 48,467,645 (+)Ensembl
Ensembl Acc Id: ENST00000635082   ⟹   ENSP00000489136
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl348,446,710 - 48,460,162 (+)Ensembl
Ensembl Acc Id: ENST00000635084
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl348,454,358 - 48,459,684 (+)Ensembl
Ensembl Acc Id: ENST00000635099   ⟹   ENSP00000489608
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl348,446,710 - 48,459,397 (+)Ensembl
Ensembl Acc Id: ENST00000635464   ⟹   ENSP00000489199
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl348,446,846 - 48,467,645 (+)Ensembl
Ensembl Acc Id: ENST00000639561   ⟹   ENSP00000491983
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl348,446,737 - 48,465,655 (+)Ensembl
RefSeq Acc Id: NR_153405
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38348,446,779 - 48,467,645 (+)NCBI
T2T-CHM13v2.0348,474,787 - 48,495,650 (+)NCBI
Sequence:
Promoters
RGD ID:6800662
Promoter ID:HG_KWN:44903
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000296443,   ENST00000357105,   OTTHUMT00000344692,   OTTHUMT00000344694,   OTTHUMT00000344696,   OTTHUMT00000344697,   OTTHUMT00000344704,   OTTHUMT00000344705,   UC003CTF.1,   UC003CTG.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36348,461,821 - 48,464,347 (+)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:33499 AgrOrtholog
COSMIC ATRIP COSMIC
Ensembl Genes ENSG00000164053 Ensembl, ENTREZGENE
Ensembl Transcript ENST00000635464 ENTREZGENE
GTEx ENSG00000164053 GTEx
Human Proteome Map ATRIP Human Proteome Map
NCBI Gene ATRIP-TREX1 ENTREZGENE
RNAcentral URS0000CCE03A RNACentral