SAMHD1 (SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1) - Rat Genome Database

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Gene: SAMHD1 (SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1) Homo sapiens
Analyze
Symbol: SAMHD1
Name: SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1
RGD ID: 1318099
HGNC Page HGNC:15925
Description: Enables several functions, including dGTP binding activity; nucleic acid binding activity; and triphosphoric monoester hydrolase activity. Involved in several processes, including DNA metabolic process; negative regulation of type I interferon-mediated signaling pathway; and purine deoxyribonucleoside triphosphate catabolic process. Located in nucleoplasm; site of double-strand break; and tetraspanin-enriched microdomain. Implicated in Aicardi-Goutieres syndrome; Chilblain lupus; acute myeloid leukemia; hepatitis B; and hepatitis C.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: AGS5; CHBL2; DCIP; dendritic cell-derived IFNG-induced protein; deoxynucleoside triphosphate triphosphohydrolase SAMHD1; dNTPase; HDDC1; hSAMHD1; monocyte protein 5; MOP-5; SAM domain and HD domain 1; SAM domain and HD domain-containing protein 1; SBBI88
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
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
GRCh382036,889,773 - 36,951,708 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2036,890,229 - 36,951,893 (-)EnsemblGRCh38hg38GRCh38
GRCh372035,518,176 - 35,580,111 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362034,954,059 - 35,013,590 (-)NCBINCBI36Build 36hg18NCBI36
Build 342034,954,058 - 35,013,590NCBI
Celera2032,227,775 - 32,287,786 (-)NCBICelera
Cytogenetic Map20q11.23NCBI
HuRef2032,255,951 - 32,316,085 (-)NCBIHuRef
CHM1_12035,421,787 - 35,482,498 (-)NCBICHM1_1
T2T-CHM13v2.02038,614,121 - 38,676,051 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(-)-alpha-phellandrene  (EXP)
1,2-dichloroethane  (ISO)
1,2-dimethylhydrazine  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP)
2,2',4,4'-Tetrabromodiphenyl ether  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,4-dibromophenyl 2,4,5-tribromophenyl ether  (EXP)
3-chloropropane-1,2-diol  (ISO)
3-isobutyl-1-methyl-7H-xanthine  (EXP)
4,4'-diaminodiphenylmethane  (ISO)
4-hydroxynon-2-enal  (EXP)
4-hydroxyphenyl retinamide  (ISO)
5-fluorouracil  (EXP)
6-propyl-2-thiouracil  (ISO)
acetamide  (ISO)
acrolein  (EXP)
aflatoxin B1  (EXP)
all-trans-retinoic acid  (EXP)
alpha-phellandrene  (EXP)
alpha-pinene  (EXP)
alpha-Zearalanol  (ISO)
antirheumatic drug  (EXP)
aristolochic acid A  (EXP)
benzo[a]pyrene  (EXP,ISO)
bis(2-ethylhexyl) phthalate  (EXP)
bisphenol A  (EXP,ISO)
Bisphenol B  (EXP)
bisphenol F  (EXP,ISO)
caffeine  (EXP)
carbon nanotube  (ISO)
chloroprene  (ISO)
chlorpyrifos  (ISO)
chromium(6+)  (ISO)
cisplatin  (EXP)
cobalt dichloride  (EXP)
coumarin  (EXP)
cyclosporin A  (EXP)
deoxynivalenol  (ISO)
dexamethasone  (EXP,ISO)
dGTP  (EXP)
diazinon  (EXP)
Dibutyl phosphate  (EXP)
dorsomorphin  (EXP)
doxorubicin  (EXP)
entinostat  (EXP)
enzyme inhibitor  (EXP)
formaldehyde  (EXP)
FR900359  (EXP)
Genipin  (ISO)
gentamycin  (ISO)
indometacin  (EXP)
irinotecan  (EXP)
ivermectin  (EXP)
leflunomide  (EXP)
lipopolysaccharide  (EXP,ISO)
mercury dibromide  (EXP)
methyl methanesulfonate  (EXP)
methylmercury chloride  (EXP)
nickel atom  (EXP)
ozone  (EXP)
p-chloromercuribenzoic acid  (EXP)
paracetamol  (EXP,ISO)
pentachlorophenol  (ISO)
perfluorooctane-1-sulfonic acid  (ISO)
phenylmercury acetate  (EXP)
picoxystrobin  (EXP)
quercetin  (EXP)
SB 431542  (EXP)
silver atom  (ISO)
silver(0)  (ISO)
sodium arsenite  (ISO)
sodium dichromate  (ISO)
succimer  (EXP)
tamoxifen  (ISO)
tetrachloromethane  (ISO)
thimerosal  (EXP)
thioacetamide  (ISO)
thiram  (EXP)
titanium dioxide  (EXP,ISO)
trichostatin A  (EXP)
triphenyl phosphate  (EXP)
Triptolide  (ISO)
triptonide  (ISO)
valproic acid  (EXP)
vancomycin  (ISO)
vincristine  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal pyramidal sign  (IAGP)
Abnormality of extrapyramidal motor function  (IAGP)
Abnormality of eye movement  (IAGP)
Acrocyanosis  (IAGP)
Antenatal onset  (IAGP)
Aortic aneurysm  (IAGP)
Arrhinencephaly  (IAGP)
Arthritis  (IAGP)
Arthropathy  (IAGP)
Autoimmunity  (IAGP)
Autosomal dominant inheritance  (IAGP)
Autosomal recessive inheritance  (IAGP)
Axial hypotonia  (IAGP)
Basal ganglia calcification  (IAGP)
Brain atrophy  (IAGP)
Calcification of the aorta  (IAGP)
Cardiomegaly  (IAGP)
Cerebral calcification  (IAGP)
Cerebral palsy  (IAGP)
Chilblains  (IAGP)
Childhood onset  (IAGP)
Chronic CSF lymphocytosis  (IAGP)
Chronic lymphatic leukemia  (IAGP)
Congenital onset  (IAGP)
Convex nasal ridge  (IAGP)
CSF lymphocytic pleiocytosis  (IAGP)
Cutaneous photosensitivity  (IAGP)
Cutis marmorata  (IAGP)
Deep white matter hypodensities  (IAGP)
Degeneration of the striatum  (IAGP)
Demyelinating peripheral neuropathy  (IAGP)
Developmental glaucoma  (IAGP)
Developmental regression  (IAGP)
Diabetes mellitus  (IAGP)
Dry skin  (IAGP)
Dystonia  (IAGP)
Elevated circulating hepatic transaminase concentration  (IAGP)
Enchondroma  (IAGP)
Extrapyramidal muscular rigidity  (IAGP)
Eyelid coloboma  (IAGP)
Feeding difficulties in infancy  (IAGP)
Flexion contracture  (IAGP)
Focal-onset seizure  (IAGP)
Gait disturbance  (IAGP)
Glaucoma  (IAGP)
Global developmental delay  (IAGP)
Headache  (IAGP)
Hemiplegia/hemiparesis  (IAGP)
Hepatosplenomegaly  (IAGP)
Hoarse voice  (IAGP)
Hypertonia  (IAGP)
Hypertrophic cardiomyopathy  (IAGP)
Hypoplasia of the corpus callosum  (IAGP)
Hypothyroidism  (IAGP)
Increased circulating interferon-gamma concentration  (IAGP)
Increased CSF interferon alpha  (IAGP)
Infantile onset  (IAGP)
Intellectual disability, profound  (IAGP)
Intracerebral periventricular calcifications  (IAGP)
Irritability  (IAGP)
Leukodystrophy  (IAGP)
Leukoencephalopathy  (IAGP)
Lipoatrophy  (IAGP)
Loss of speech  (IAGP)
Low-set ears  (IAGP)
Microcephaly  (IAGP)
Micropenis  (IAGP)
Moyamoya phenomenon  (IAGP)
Multifocal cerebral white matter abnormalities  (IAGP)
Multiple joint contractures  (IAGP)
Multiple myeloma  (IAGP)
Muscle stiffness  (IAGP)
Myositis  (IAGP)
Neonatal alloimmune thrombocytopenia  (IAGP)
Neonatal onset  (IAGP)
Nystagmus  (IAGP)
Panniculitis  (IAGP)
Papillary dermal edema  (IAGP)
Plagiocephaly  (IAGP)
Porencephalic cyst  (IAGP)
Prolonged neonatal jaundice  (IAGP)
Ptosis  (IAGP)
Raynaud phenomenon  (IAGP)
Scaling skin  (IAGP)
Scoliosis  (IAGP)
Seizure  (IAGP)
Short stature  (IAGP)
Spastic paraparesis  (IAGP)
Spastic tetraplegia  (IAGP)
Spasticity  (IAGP)
Thrombocytopenia  (IAGP)
Tremor  (IAGP)
Unexplained fevers  (IAGP)
Ventriculomegaly  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. A viral kinase counteracts in vivo restriction of murine cytomegalovirus by SAMHD1. Deutschmann J, etal., Nat Microbiol. 2019 Dec;4(12):2273-2284. doi: 10.1038/s41564-019-0529-z. Epub 2019 Sep 23.
2. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
3. SAMHD1 inhibits epithelial cell transformation in vitro and affects leukemia development in xenograft mice. Kodigepalli KM, etal., Cell Cycle. 2018;17(23):2564-2576. doi: 10.1080/15384101.2018.1550955. Epub 2018 Dec 4.
4. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
5. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
6. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
7. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
8. Identification of natural splice variants of SAMHD1 in virus-infected HCC. Shi Y, etal., Oncol Rep. 2014 Feb;31(2):687-92. doi: 10.3892/or.2013.2895. Epub 2013 Dec 5.
Additional References at PubMed
PMID:10737800   PMID:11064105   PMID:11230166   PMID:11256614   PMID:11780052   PMID:12107410   PMID:12477932   PMID:14702039   PMID:15342556   PMID:16344560   PMID:17081983   PMID:17314030  
PMID:18546154   PMID:19525956   PMID:20156774   PMID:20237496   PMID:20301334   PMID:20301648   PMID:20358604   PMID:20842748   PMID:21102625   PMID:21145461   PMID:21204240   PMID:21402907  
PMID:21613998   PMID:21633013   PMID:21701517   PMID:21720361   PMID:21720370   PMID:21740548   PMID:21832049   PMID:21873635   PMID:21903422   PMID:22056990   PMID:22069334   PMID:22174685  
PMID:22305291   PMID:22327569   PMID:22362772   PMID:22421880   PMID:22461318   PMID:22530776   PMID:22589553   PMID:22691373   PMID:22776683   PMID:22863883   PMID:22908011   PMID:22926205  
PMID:22972397   PMID:22973040   PMID:22978176   PMID:22990118   PMID:22999946   PMID:23043100   PMID:23043103   PMID:23076149   PMID:23092122   PMID:23092512   PMID:23158101   PMID:23231760  
PMID:23269793   PMID:23364794   PMID:23371319   PMID:23414517   PMID:23426363   PMID:23426366   PMID:23463506   PMID:23497255   PMID:23497283   PMID:23526823   PMID:23601106   PMID:23602554  
PMID:23677995   PMID:23744077   PMID:23825473   PMID:23825958   PMID:23858451   PMID:23872947   PMID:23874202   PMID:23874389   PMID:23880768   PMID:23884314   PMID:23940030   PMID:23966382  
PMID:23986575   PMID:24026671   PMID:24035396   PMID:24067963   PMID:24088354   PMID:24139400   PMID:24141705   PMID:24173216   PMID:24217394   PMID:24219908   PMID:24246762   PMID:24248602  
PMID:24335234   PMID:24336198   PMID:24352659   PMID:24402277   PMID:24445253   PMID:24457600   PMID:24485168   PMID:24501781   PMID:24554663   PMID:24574390   PMID:24599229   PMID:24623419  
PMID:24712655   PMID:24753578   PMID:24772904   PMID:24797263   PMID:24828500   PMID:24913159   PMID:25010268   PMID:25015816   PMID:25019997   PMID:25036637   PMID:25038827   PMID:25063780  
PMID:25201733   PMID:25267621   PMID:25288794   PMID:25392215   PMID:25423367   PMID:25449277   PMID:25524560   PMID:25532805   PMID:25646359   PMID:25715102   PMID:25760601   PMID:25762741  
PMID:25825449   PMID:25890101   PMID:25921289   PMID:25926647   PMID:25936766   PMID:25996507   PMID:26032178   PMID:26186194   PMID:26294762   PMID:26342080   PMID:26397446   PMID:26416562  
PMID:26431200   PMID:26496610   PMID:26504826   PMID:26559763   PMID:26606981   PMID:26618866   PMID:26638075   PMID:26641092   PMID:26655245   PMID:26733158   PMID:26779819   PMID:26923586  
PMID:26972000   PMID:27025967   PMID:27071091   PMID:27173329   PMID:27179347   PMID:27183329   PMID:27217568   PMID:27219130   PMID:27229711   PMID:27320910   PMID:27375111   PMID:27387229  
PMID:27411355   PMID:27503909   PMID:27511536   PMID:27566548   PMID:27609421   PMID:27643693   PMID:27684187   PMID:27775344   PMID:27815502   PMID:27889686   PMID:27922067   PMID:27929746  
PMID:28046007   PMID:28122869   PMID:28202763   PMID:28220857   PMID:28228523   PMID:28229507   PMID:28321930   PMID:28359840   PMID:28380382   PMID:28389709   PMID:28398823   PMID:28436707  
PMID:28502830   PMID:28514442   PMID:28675297   PMID:28834754   PMID:28871089   PMID:28931685   PMID:29053956   PMID:29084722   PMID:29117863   PMID:29274141   PMID:29321329   PMID:29331416  
PMID:29352181   PMID:29478914   PMID:29507755   PMID:29515139   PMID:29610295   PMID:29614270   PMID:29670289   PMID:29676528   PMID:29698322   PMID:29764952   PMID:29782647   PMID:29793958  
PMID:29884836   PMID:29911928   PMID:29955894   PMID:29963825   PMID:30039733   PMID:30044979   PMID:30068654   PMID:30097533   PMID:30099227   PMID:30104243   PMID:30166453   PMID:30181218  
PMID:30299483   PMID:30316304   PMID:30320910   PMID:30341277   PMID:30462309   PMID:30619736   PMID:30737378   PMID:30739781   PMID:30767852   PMID:30833792   PMID:30884312   PMID:30918010  
PMID:30940648   PMID:30948266   PMID:30959264   PMID:30959732   PMID:31003777   PMID:31015445   PMID:31073040   PMID:31091453   PMID:31186535   PMID:31240132   PMID:31291579   PMID:31291580  
PMID:31375673   PMID:31391281   PMID:31462561   PMID:31492497   PMID:31548682   PMID:31586073   PMID:31797533   PMID:31914403   PMID:31914608   PMID:32062129   PMID:32075911   PMID:32209460  
PMID:32402273   PMID:32457219   PMID:32468062   PMID:32511795   PMID:32576829   PMID:32581304   PMID:32656092   PMID:32786267   PMID:32850489   PMID:32986788   PMID:33024031   PMID:33135886  
PMID:33239621   PMID:33462405   PMID:33528031   PMID:33563288   PMID:33567341   PMID:33591315   PMID:33658012   PMID:33729478   PMID:33857133   PMID:33883225   PMID:33961781   PMID:33979727  
PMID:33988981   PMID:34017080   PMID:34180901   PMID:34270554   PMID:34321470   PMID:34480199   PMID:34490131   PMID:34492268   PMID:34697376   PMID:34709727   PMID:34738194   PMID:34758609  
PMID:35013556   PMID:35032548   PMID:35085552   PMID:35256949   PMID:35379950   PMID:35412343   PMID:35439318   PMID:35509820   PMID:35562734   PMID:35563538   PMID:35579088   PMID:35652658  
PMID:35670736   PMID:35687106   PMID:35803902   PMID:35819319   PMID:35831314   PMID:35893688   PMID:35915203   PMID:35944360   PMID:36057605   PMID:36114006   PMID:36150385   PMID:36215168  
PMID:36244648   PMID:36377871   PMID:36517590   PMID:36532074   PMID:36578072   PMID:36689724   PMID:36845138   PMID:36934410   PMID:37009792   PMID:37037311   PMID:37081042   PMID:37100289  
PMID:37213666   PMID:37246644   PMID:37314216   PMID:37317656   PMID:37328105   PMID:37689310   PMID:37781035   PMID:37800914   PMID:37827155   PMID:37930833   PMID:38041217   PMID:38113892  
PMID:38367301   PMID:39162568   PMID:39394602  


Genomics

Comparative Map Data
SAMHD1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382036,889,773 - 36,951,708 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2036,890,229 - 36,951,893 (-)EnsemblGRCh38hg38GRCh38
GRCh372035,518,176 - 35,580,111 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362034,954,059 - 35,013,590 (-)NCBINCBI36Build 36hg18NCBI36
Build 342034,954,058 - 35,013,590NCBI
Celera2032,227,775 - 32,287,786 (-)NCBICelera
Cytogenetic Map20q11.23NCBI
HuRef2032,255,951 - 32,316,085 (-)NCBIHuRef
CHM1_12035,421,787 - 35,482,498 (-)NCBICHM1_1
T2T-CHM13v2.02038,614,121 - 38,676,051 (-)NCBIT2T-CHM13v2.0
Samhd1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm392156,939,454 - 156,977,016 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl2156,939,453 - 156,977,185 (-)EnsemblGRCm39 Ensembl
GRCm382157,097,534 - 157,135,096 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl2157,097,533 - 157,135,265 (-)EnsemblGRCm38mm10GRCm38
MGSCv372156,923,265 - 156,960,958 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv362156,788,970 - 156,826,663 (-)NCBIMGSCv36mm8
Celera2163,030,928 - 163,069,082 (-)NCBICelera
Cytogenetic Map2H1NCBI
cM Map278.0NCBI
Samhd1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr83166,179,742 - 166,214,448 (-)NCBIGRCr8
mRatBN7.23145,761,549 - 145,794,420 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl3145,761,558 - 145,794,386 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx3149,586,957 - 149,619,774 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.03158,084,906 - 158,117,628 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.03155,825,467 - 155,858,563 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.03153,210,829 - 153,250,705 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl3153,210,829 - 153,250,641 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.03158,468,644 - 158,504,183 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.43147,689,421 - 147,727,429 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.13147,595,329 - 147,627,065 (-)NCBI
Celera3144,468,270 - 144,500,913 (-)NCBICelera
Cytogenetic Map3q42NCBI
Samhd1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495542224,735,161 - 24,778,830 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495542224,714,103 - 24,780,672 (+)NCBIChiLan1.0ChiLan1.0
SAMHD1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v22142,629,145 - 42,687,452 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan12042,622,243 - 42,680,550 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v02033,224,200 - 33,282,018 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.12034,341,367 - 34,398,514 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2034,341,367 - 34,398,314 (-)Ensemblpanpan1.1panPan2
SAMHD1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12425,623,997 - 25,676,336 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2425,626,134 - 25,680,902 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2425,269,008 - 25,324,975 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02426,321,372 - 26,377,665 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2426,322,848 - 26,373,771 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12425,599,032 - 25,655,273 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02425,699,545 - 25,755,789 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02426,189,021 - 26,245,159 (-)NCBIUU_Cfam_GSD_1.0
Samhd1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024408640174,510,839 - 174,568,927 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365614,180,546 - 4,229,036 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365614,180,607 - 4,238,623 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
SAMHD1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1740,107,462 - 40,171,878 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11740,117,348 - 40,171,935 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21745,558,314 - 45,611,643 (-)NCBISscrofa10.2Sscrofa10.2susScr3
SAMHD1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1257,641,634 - 57,699,685 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl257,639,046 - 57,699,525 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_023666054357,564 - 415,279 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Samhd1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248422,591,148 - 2,647,742 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248422,591,016 - 2,649,746 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in SAMHD1
773 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_015474.4(SAMHD1):c.109G>T (p.Glu37Ter) single nucleotide variant Cerebral palsy [RCV001293275]|not provided [RCV003232285] Chr20:36951535 [GRCh38]
Chr20:35579938 [GRCh37]
Chr20:20q11.23		 pathogenic
NM_015474.4(SAMHD1):c.861T>C (p.Tyr287=) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV001412352] Chr20:36917041 [GRCh38]
Chr20:35545444 [GRCh37]
Chr20:20q11.23		 likely benign
SAMHD1, IVS14AS, G-C, -1 single nucleotide variant Aicardi Goutieres syndrome 5 [RCV000004283] Chr20:20q11.2 pathogenic
NM_015474.4(SAMHD1):c.1657T>G (p.Tyr553Asp) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV002525193]|not provided [RCV000521378] Chr20:36897911 [GRCh38]
Chr20:35526314 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_015474.4(SAMHD1):c.464A>G (p.Tyr155Cys) single nucleotide variant Aicardi Goutieres syndrome [RCV001834699]|Aicardi-Goutieres syndrome 5 [RCV001857994]|not provided [RCV000518942] Chr20:36935074 [GRCh38]
Chr20:35563477 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_015474.4(SAMHD1):c.1608+1G>T single nucleotide variant not provided [RCV000520074] Chr20:36898439 [GRCh38]
Chr20:35526842 [GRCh37]
Chr20:20q11.23		 uncertain significance
NC_000020.11:g.36948745_36957728del deletion Aicardi-Goutieres syndrome 5 [RCV000023576] Chr20:36948745..36957728 [GRCh38]
Chr20:35577148..35586131 [GRCh37]
Chr20:20q11.23		 pathogenic
NM_015474.4(SAMHD1):c.427C>T (p.Arg143Cys) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV000023577] Chr20:36935111 [GRCh38]
Chr20:35563514 [GRCh37]
Chr20:20q11.23		 pathogenic|likely pathogenic
NM_015474.4(SAMHD1):c.602T>A (p.Ile201Asn) single nucleotide variant Aicardi Goutieres syndrome [RCV000825545]|Aicardi-Goutieres syndrome 5 [RCV000023578]|Chilblain lupus 2 [RCV000023579]|not provided [RCV001555533] Chr20:36930783 [GRCh38]
Chr20:35559186 [GRCh37]
Chr20:20q11.23		 pathogenic|likely pathogenic|uncertain significance
NM_015474.4(SAMHD1):c.625G>A (p.Gly209Ser) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV000004281] Chr20:36930760 [GRCh38]
Chr20:35559163 [GRCh37]
Chr20:20q11.23		 pathogenic|likely pathogenic|uncertain significance
NM_015474.4(SAMHD1):c.433C>T (p.Arg145Ter) single nucleotide variant Aicardi Goutieres syndrome [RCV001826413]|Aicardi-Goutieres syndrome 5 [RCV000004282]|Aicardi-Goutieres syndrome 5 [RCV002476923]|not provided [RCV004700185] Chr20:36935105 [GRCh38]
Chr20:35563508 [GRCh37]
Chr20:20q11.23		 pathogenic
NM_015474.4(SAMHD1):c.490C>T (p.Arg164Ter) single nucleotide variant Aicardi Goutieres syndrome [RCV001831512]|Aicardi-Goutieres syndrome 5 [RCV000004284] Chr20:36935048 [GRCh38]
Chr20:35563451 [GRCh37]
Chr20:20q11.23		 pathogenic|likely pathogenic
NM_015474.4(SAMHD1):c.445C>T (p.Gln149Ter) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV000004285] Chr20:36935093 [GRCh38]
Chr20:35563496 [GRCh37]
Chr20:20q11.23		 pathogenic
NM_015474.4(SAMHD1):c.1642C>T (p.Gln548Ter) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV000004286] Chr20:36897926 [GRCh38]
Chr20:35526329 [GRCh37]
Chr20:20q11.23		 pathogenic
NM_015474.4(SAMHD1):c.368A>C (p.His123Pro) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV000004287] Chr20:36935170 [GRCh38]
Chr20:35563573 [GRCh37]
Chr20:20q11.23		 pathogenic
NM_015474.4(SAMHD1):c.760A>G (p.Met254Val) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV000004288] Chr20:36919456 [GRCh38]
Chr20:35547859 [GRCh37]
Chr20:20q11.23		 pathogenic
GRCh38/hg38 20q11.22-12(chr20:34541747-39663219)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052766]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052766]|See cases [RCV000052766] Chr20:34541747..39663219 [GRCh38]
Chr20:33129551..38291861 [GRCh37]
Chr20:32593212..37725275 [NCBI36]
Chr20:20q11.22-12		 pathogenic
GRCh38/hg38 20q11.22-13.11(chr20:34249453-43359749)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053002]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053002]|See cases [RCV000053002] Chr20:34249453..43359749 [GRCh38]
Chr20:32837259..41988389 [GRCh37]
Chr20:32300920..41421803 [NCBI36]
Chr20:20q11.22-13.11		 pathogenic
GRCh38/hg38 20p12.2-q12(chr20:9811433-39316956)x3 copy number gain See cases [RCV000052999] Chr20:9811433..39316956 [GRCh38]
Chr20:9792081..37945599 [GRCh37]
Chr20:9740081..37379013 [NCBI36]
Chr20:20p12.2-q12		 pathogenic
NM_015474.4(SAMHD1):c.1651C>T (p.Arg551Ter) single nucleotide variant Aicardi Goutieres syndrome [RCV002509198]|Aicardi-Goutieres syndrome 5 [RCV001389675] Chr20:36897917 [GRCh38]
Chr20:35526320 [GRCh37]
Chr20:34959734 [NCBI36]
Chr20:20q11.23		 pathogenic|likely pathogenic|not provided
NM_015474.3(SAMHD1):c.1541C>T (p.Pro514Leu) single nucleotide variant Malignant melanoma [RCV000072617] Chr20:36898507 [GRCh38]
Chr20:35526910 [GRCh37]
Chr20:34960324 [NCBI36]
Chr20:20q11.23		 not provided
NM_015474.4(SAMHD1):c.1343T>C (p.Ile448Thr) single nucleotide variant Aicardi Goutieres syndrome [RCV003323661]|Aicardi-Goutieres syndrome 5 [RCV001242221]|not provided [RCV000657877] Chr20:36905431 [GRCh38]
Chr20:35533834 [GRCh37]
Chr20:20q11.23		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NC_000020.11:g.(36898545_36904156)_(36951644_?)del deletion Aicardi-Goutieres syndrome 5 [RCV000114343] Chr20:36904156..36951644 [GRCh38]
Chr20:35532559..35580047 [GRCh37]
Chr20:20q11.23		 pathogenic
Single allele deletion Aicardi-Goutieres syndrome 5 [RCV000114344] Chr20:20q11.2 pathogenic
NM_015474.4(SAMHD1):c.1106T>C (p.Leu369Ser) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV000114345] Chr20:36912509 [GRCh38]
Chr20:35540912 [GRCh37]
Chr20:20q11.23		 pathogenic|not provided
NM_015474.4(SAMHD1):c.1153A>G (p.Met385Val) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV000114346] Chr20:36912462 [GRCh38]
Chr20:35540865 [GRCh37]
Chr20:20q11.23		 pathogenic|uncertain significance|not provided
NM_015474.4(SAMHD1):c.1324C>T (p.Arg442Ter) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV000114347]|not provided [RCV001781440] Chr20:36905450 [GRCh38]
Chr20:35533853 [GRCh37]
Chr20:20q11.23		 pathogenic|conflicting interpretations of pathogenicity
NM_015474.4(SAMHD1):c.1411-2A>G single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV000114348]|SAMHD1-related disorder [RCV004739368]|not provided [RCV003137627] Chr20:36904251 [GRCh38]
Chr20:35532654 [GRCh37]
Chr20:20q11.23		 pathogenic
NM_015474.4(SAMHD1):c.1503+1G>T single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV000114349] Chr20:36904156 [GRCh38]
Chr20:35532559 [GRCh37]
Chr20:20q11.23		 pathogenic|not provided
NM_015474.4(SAMHD1):c.1609-1G>C single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV000114350] Chr20:36897960 [GRCh38]
Chr20:35526363 [GRCh37]
Chr20:20q11.23		 pathogenic|uncertain significance
NM_015474.4(SAMHD1):c.359_370del (p.Asp120_His123del) deletion Aicardi-Goutieres syndrome 5 [RCV000114351] Chr20:36935168..36935179 [GRCh38]
Chr20:35563571..35563582 [GRCh37]
Chr20:20q11.23		 pathogenic|not provided
NM_015474.4(SAMHD1):c.428G>A (p.Arg143His) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV000114352]|not provided [RCV002223787] Chr20:36935110 [GRCh38]
Chr20:35563513 [GRCh37]
Chr20:20q11.23		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_015474.4(SAMHD1):c.434G>A (p.Arg145Gln) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV000114353]|not provided [RCV003390795] Chr20:36935104 [GRCh38]
Chr20:35563507 [GRCh37]
Chr20:20q11.23		 pathogenic|likely pathogenic|uncertain significance
NM_015474.4(SAMHD1):c.649_650insG (p.Phe217fs) insertion Aicardi-Goutieres syndrome 5 [RCV000114354] Chr20:36927228..36927229 [GRCh38]
Chr20:35555631..35555632 [GRCh37]
Chr20:20q11.23		 pathogenic
GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3 copy number gain See cases [RCV000135859] Chr20:99557..64277321 [GRCh38]
Chr20:80198..62908674 [GRCh37]
Chr20:28198..62379118 [NCBI36]
Chr20:20p13-q13.33		 pathogenic
GRCh38/hg38 20q11.22-13.12(chr20:35237946-47631818)x1 copy number loss See cases [RCV000140816] Chr20:35237946..47631818 [GRCh38]
Chr20:33825749..46260562 [GRCh37]
Chr20:33289165..45693969 [NCBI36]
Chr20:20q11.22-13.12		 pathogenic
NM_015474.4(SAMHD1):c.1562A>G (p.Tyr521Cys) single nucleotide variant not provided [RCV000519967] Chr20:36898486 [GRCh38]
Chr20:35526889 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_015474.4(SAMHD1):c.*240G>A single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV000383368]|Chilblain lupus 2 [RCV000293495] Chr20:36892692 [GRCh38]
Chr20:35521095 [GRCh37]
Chr20:20q11.23		 benign|uncertain significance
NM_015474.4(SAMHD1):c.*1008C>G single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV000392184]|Chilblain lupus 2 [RCV000296577] Chr20:36891924 [GRCh38]
Chr20:35520327 [GRCh37]
Chr20:20q11.23		 benign|likely benign
NM_015474.4(SAMHD1):c.-39C>A single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV000264603]|Chilblain lupus 2 [RCV000377803] Chr20:36951682 [GRCh38]
Chr20:35580085 [GRCh37]
Chr20:20q11.23		 benign|likely benign|uncertain significance
NM_015474.4(SAMHD1):c.*288A>G single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV000328748]|Chilblain lupus 2 [RCV000268954] Chr20:36892644 [GRCh38]
Chr20:35521047 [GRCh37]
Chr20:20q11.23		 benign|likely benign
NM_015474.4(SAMHD1):c.1692C>T (p.Ala564=) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV000549734]|Chilblain lupus 2 [RCV000307861]|SAMHD1-related disorder [RCV004549777] Chr20:36897876 [GRCh38]
Chr20:35526279 [GRCh37]
Chr20:20q11.23		 benign|likely benign
NM_015474.4(SAMHD1):c.1593G>C (p.Arg531Ser) single nucleotide variant Aicardi Goutieres syndrome [RCV001272062]|Aicardi-Goutieres syndrome 5 [RCV000646782]|Chilblain lupus 2 [RCV000366296]|Inborn genetic diseases [RCV002520012]|not provided [RCV000997772]|not specified [RCV004526667] Chr20:36898455 [GRCh38]
Chr20:35526858 [GRCh37]
Chr20:20q11.23		 benign|likely benign|uncertain significance
NM_015474.4(SAMHD1):c.195G>T (p.Leu65=) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV000646785]|Chilblain lupus 2 [RCV000346918]|not provided [RCV003437077] Chr20:36951449 [GRCh38]
Chr20:35579852 [GRCh37]
Chr20:20q11.23		 benign|likely benign|conflicting interpretations of pathogenicity
NM_015474.3(SAMHD1):c.-110T>C single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV000379094]|Chilblain lupus 2 [RCV000324577]|not provided [RCV004717378] Chr20:36951753 [GRCh38]
Chr20:35580156 [GRCh37]
Chr20:20q11.23		 benign|likely benign
NM_015474.4(SAMHD1):c.840C>T (p.Val280=) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV000278900]|Chilblain lupus 2 [RCV000373420] Chr20:36919376 [GRCh38]
Chr20:35547779 [GRCh37]
Chr20:20q11.23		 conflicting interpretations of pathogenicity|uncertain significance
NM_080628.3(TLDC2):c.*28T>C single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV000282011]|Chilblain lupus 2 [RCV000400320]|not provided [RCV003221936] Chr20:36892872 [GRCh38]
Chr20:35521275 [GRCh37]
Chr20:20q11.23		 benign|likely benign
NM_015474.4(SAMHD1):c.697-11A>G single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV000374639]|Chilblain lupus 2 [RCV000319975] Chr20:36919530 [GRCh38]
Chr20:35547933 [GRCh37]
Chr20:20q11.23		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_015474.4(SAMHD1):c.*95T>C single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV000388878]|Chilblain lupus 2 [RCV000329727] Chr20:36892837 [GRCh38]
Chr20:35521240 [GRCh37]
Chr20:20q11.23		 benign|likely benign|uncertain significance
NM_015474.4(SAMHD1):c.401G>A (p.Arg134Gln) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV000285230]|Chilblain lupus 2 [RCV000379642] Chr20:36935137 [GRCh38]
Chr20:35563540 [GRCh37]
Chr20:20q11.23		 likely benign|uncertain significance
NM_015474.4(SAMHD1):c.1393C>A (p.Gln465Lys) single nucleotide variant Aicardi Goutieres syndrome [RCV001272063]|Aicardi-Goutieres syndrome 5 [RCV000646781]|Chilblain lupus 2 [RCV000367375] Chr20:36905381 [GRCh38]
Chr20:35533784 [GRCh37]
Chr20:20q11.23		 likely benign|uncertain significance
NM_015474.3(SAMHD1):c.-166G>T single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV000289410]|Chilblain lupus 2 [RCV000344434]|not provided [RCV004703821] Chr20:36951809 [GRCh38]
Chr20:35580212 [GRCh37]
Chr20:20q11.23		 benign|likely benign
NM_015474.4(SAMHD1):c.67T>A (p.Ser23Thr) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV000276782]|Chilblain lupus 2 [RCV000371129] Chr20:36951577 [GRCh38]
Chr20:35579980 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_015474.4(SAMHD1):c.77C>T (p.Pro26Leu) single nucleotide variant Aicardi Goutieres syndrome [RCV001273109]|Aicardi-Goutieres syndrome 5 [RCV001086867]|Chilblain lupus 2 [RCV000407215]|not provided [RCV000712997] Chr20:36951567 [GRCh38]
Chr20:35579970 [GRCh37]
Chr20:20q11.23		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_015474.4(SAMHD1):c.*71C>A single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV000335485]|Chilblain lupus 2 [RCV000294485]|not provided [RCV004717377]|not specified [RCV001731616] Chr20:36892861 [GRCh38]
Chr20:35521264 [GRCh37]
Chr20:20q11.23		 benign|likely benign
NM_015474.4(SAMHD1):c.*45C>T single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV000393843]|Chilblain lupus 2 [RCV000337161] Chr20:36892887 [GRCh38]
Chr20:35521290 [GRCh37]
Chr20:20q11.23		 benign|likely benign
NM_015474.4(SAMHD1):c.1037A>C (p.Glu346Ala) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV000277658]|Chilblain lupus 2 [RCV000332671] Chr20:36916747 [GRCh38]
Chr20:35545150 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_015474.4(SAMHD1):c.*629C>T single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV000297560]|Chilblain lupus 2 [RCV000357040]|not provided [RCV004717376] Chr20:36892303 [GRCh38]
Chr20:35520706 [GRCh37]
Chr20:20q11.23		 benign
NM_015474.4(SAMHD1):c.334G>A (p.Val112Ile) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV000887838]|Chilblain lupus 2 [RCV000344761]|SAMHD1-related disorder [RCV004549778]|not provided [RCV004584690] Chr20:36941053 [GRCh38]
Chr20:35569456 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.-31T>C single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV000263426]|Chilblain lupus 2 [RCV000318637] Chr20:36951674 [GRCh38]
Chr20:35580077 [GRCh37]
Chr20:20q11.23		 benign|likely benign|uncertain significance
NM_015474.4(SAMHD1):c.-10A>G single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV000353921]|Chilblain lupus 2 [RCV000299096]|not provided [RCV000788174] Chr20:36951653 [GRCh38]
Chr20:35580056 [GRCh37]
Chr20:20q11.23		 benign|uncertain significance
NM_015474.4(SAMHD1):c.*503A>G single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV000268226]|Chilblain lupus 2 [RCV000358313] Chr20:36892429 [GRCh38]
Chr20:35520832 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_015474.4(SAMHD1):c.1832G>A (p.Arg611Gln) single nucleotide variant Aicardi Goutieres syndrome [RCV001833405]|Aicardi-Goutieres syndrome 5 [RCV001247517]|Inborn genetic diseases [RCV002518123]|not provided [RCV000301389] Chr20:36892981 [GRCh38]
Chr20:35521384 [GRCh37]
Chr20:20q11.23		 likely benign|uncertain significance
NM_015474.4(SAMHD1):c.626-63dup duplication not provided [RCV002285803] Chr20:36927314..36927315 [GRCh38]
Chr20:35555717..35555718 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.385C>G (p.His129Asp) single nucleotide variant not provided [RCV000488134] Chr20:36935153 [GRCh38]
Chr20:35563556 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_015474.4(SAMHD1):c.*536C>T single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV000405283]|Chilblain lupus 2 [RCV000303345] Chr20:36892396 [GRCh38]
Chr20:35520799 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_015474.4(SAMHD1):c.*711A>C single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV000392173]|Chilblain lupus 2 [RCV000351506] Chr20:36892221 [GRCh38]
Chr20:35520624 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_015474.4(SAMHD1):c.*362G>A single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV000323445]|Chilblain lupus 2 [RCV000364067] Chr20:36892570 [GRCh38]
Chr20:35520973 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_015474.4(SAMHD1):c.1735A>G (p.Thr579Ala) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV000301836]|Chilblain lupus 2 [RCV000361282] Chr20:36897833 [GRCh38]
Chr20:35526236 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_015474.4(SAMHD1):c.237T>C (p.Pro79=) single nucleotide variant Aicardi Goutieres syndrome [RCV001834674]|Aicardi-Goutieres syndrome 5 [RCV000967936]|not provided [RCV001703184]|not specified [RCV000518009] Chr20:36946776 [GRCh38]
Chr20:35575179 [GRCh37]
Chr20:20q11.23		 benign|likely benign
NC_000020.11:g.(?_36951416)_(36951663_?)del deletion Aicardi-Goutieres syndrome 5 [RCV000815919] Chr20:36951416..36951663 [GRCh38]
Chr20:35579819..35580066 [GRCh37]
Chr20:20q11.23		 pathogenic
NM_015474.4(SAMHD1):c.27del (p.Ser10fs) deletion not provided [RCV000415962] Chr20:36951617 [GRCh38]
Chr20:35580020 [GRCh37]
Chr20:20q11.23		 uncertain significance
NC_000020.10:g.(?_35539601)_(35547942_?)dup duplication Aicardi-Goutieres syndrome 5 [RCV000538094] Chr20:36911198..36919539 [GRCh38]
Chr20:35539601..35547942 [GRCh37]
Chr20:20q11.23		 likely pathogenic
NM_015474.4(SAMHD1):c.571A>G (p.Ile191Val) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV000723336]|not specified [RCV003489844] Chr20:36930814 [GRCh38]
Chr20:35559217 [GRCh37]
Chr20:20q11.23		 likely pathogenic|uncertain significance
GRCh37/hg19 20q11.23(chr20:35412135-35521238)x3 copy number gain See cases [RCV000447313] Chr20:35412135..35521238 [GRCh37]
Chr20:20q11.23		 uncertain significance
GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)x3 copy number gain See cases [RCV000510832] Chr20:61569..62915555 [GRCh37]
Chr20:20p13-q13.33		 pathogenic
NM_015474.4(SAMHD1):c.494T>C (p.Phe165Ser) single nucleotide variant Aicardi Goutieres syndrome [RCV001834651]|not provided [RCV000514399] Chr20:36935044 [GRCh38]
Chr20:35563447 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_015474.4(SAMHD1):c.1797C>T (p.Asn599=) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV000646784]|SAMHD1-related disorder [RCV004547819] Chr20:36893016 [GRCh38]
Chr20:35521419 [GRCh37]
Chr20:20q11.23		 benign|likely benign
GRCh37/hg19 20p13-q13.33(chr20:61569-62915555) copy number gain See cases [RCV000512450] Chr20:61569..62915555 [GRCh37]
Chr20:20p13-q13.33		 pathogenic
NM_015474.4(SAMHD1):c.517T>G (p.Tyr173Asp) single nucleotide variant Inborn genetic diseases [RCV000623639] Chr20:36930868 [GRCh38]
Chr20:35559271 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_015474.4(SAMHD1):c.1293A>T (p.Leu431Phe) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV000677342] Chr20:36905481 [GRCh38]
Chr20:35533884 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_015474.4(SAMHD1):c.364A>G (p.Ile122Val) single nucleotide variant Aicardi Goutieres syndrome [RCV001273105]|Aicardi-Goutieres syndrome 5 [RCV000702055] Chr20:36935174 [GRCh38]
Chr20:35563577 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_015474.4(SAMHD1):c.1746+4_1746+15del deletion Aicardi-Goutieres syndrome 5 [RCV000688962] Chr20:36897807..36897818 [GRCh38]
Chr20:35526210..35526221 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_015474.4(SAMHD1):c.1590C>G (p.Ile530Met) single nucleotide variant Aicardi Goutieres syndrome [RCV001830542]|Aicardi-Goutieres syndrome 5 [RCV000700031] Chr20:36898458 [GRCh38]
Chr20:35526861 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_015474.4(SAMHD1):c.1258A>T (p.Thr420Ser) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV000706615] Chr20:36911230 [GRCh38]
Chr20:35539633 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_015474.4(SAMHD1):c.1445G>A (p.Ser482Asn) single nucleotide variant Aicardi Goutieres syndrome [RCV001830566]|Aicardi-Goutieres syndrome 5 [RCV000706733]|Aicardi-Goutieres syndrome 5 [RCV000765489]|Chilblain lupus 2 [RCV001143071]|Inborn genetic diseases [RCV004026728] Chr20:36904215 [GRCh38]
Chr20:35532618 [GRCh37]
Chr20:20q11.23		 benign|uncertain significance
NM_015474.4(SAMHD1):c.1321G>C (p.Ala441Pro) single nucleotide variant Aicardi Goutieres syndrome [RCV001830512]|Aicardi-Goutieres syndrome 5 [RCV000692955] Chr20:36905453 [GRCh38]
Chr20:35533856 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_015474.4(SAMHD1):c.696G>T (p.Thr232=) single nucleotide variant Aicardi Goutieres syndrome [RCV001825406]|Aicardi-Goutieres syndrome 5 [RCV000707550] Chr20:36927182 [GRCh38]
Chr20:35555585 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_015474.4(SAMHD1):c.1408del (p.Arg470fs) deletion Aicardi-Goutieres syndrome 5 [RCV000705432] Chr20:36905366 [GRCh38]
Chr20:35533769 [GRCh37]
Chr20:20q11.23		 pathogenic
NC_000020.11:g.(?_36904137)_(36912572_?)del deletion Aicardi-Goutieres syndrome 5 [RCV004579459] Chr20:36904137..36912572 [GRCh38]
Chr20:35532540..35540975 [GRCh37]
Chr20:20q11.23		 pathogenic|uncertain significance
Single allele deletion Focal-onset seizure [RCV001004039] Chr20:34980430..46806549 [GRCh37]
Chr20:20q11.23-13.13		 likely pathogenic
GRCh37/hg19 20p13-q13.33(chr20:63244-62961294)x3 copy number gain not provided [RCV000741059] Chr20:63244..62961294 [GRCh37]
Chr20:20p13-q13.33		 pathogenic
GRCh37/hg19 20q11.23(chr20:35507542-35525640)x1 copy number loss not provided [RCV000741187] Chr20:35507542..35525640 [GRCh37]
Chr20:20q11.23		 benign
GRCh37/hg19 20q11.23(chr20:35523179-35525640)x1 copy number loss not provided [RCV000741188] Chr20:35523179..35525640 [GRCh37]
Chr20:20q11.23		 benign
GRCh37/hg19 20p13-q13.33(chr20:63244-62912463)x3 copy number gain not provided [RCV000741057] Chr20:63244..62912463 [GRCh37]
Chr20:20p13-q13.33		 pathogenic
GRCh37/hg19 20p13-q13.33(chr20:63244-62948788)x3 copy number gain not provided [RCV000741058] Chr20:63244..62948788 [GRCh37]
Chr20:20p13-q13.33		 pathogenic
NM_015474.4(SAMHD1):c.462C>T (p.Tyr154=) single nucleotide variant Aicardi Goutieres syndrome [RCV001272067]|Aicardi-Goutieres syndrome 5 [RCV000918776] Chr20:36935076 [GRCh38]
Chr20:35563479 [GRCh37]
Chr20:20q11.23		 likely benign|uncertain significance
NM_015474.4(SAMHD1):c.852+269G>C single nucleotide variant not provided [RCV001648800] Chr20:36919095 [GRCh38]
Chr20:35547498 [GRCh37]
Chr20:20q11.23		 benign
NM_015474.4(SAMHD1):c.1711C>A (p.Gln571Lys) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV001043852] Chr20:36897857 [GRCh38]
Chr20:35526260 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_015474.4(SAMHD1):c.1320C>T (p.Asp440=) single nucleotide variant Aicardi Goutieres syndrome [RCV001827053]|Aicardi-Goutieres syndrome 5 [RCV000967652]|SAMHD1-related disorder [RCV004553467]|not provided [RCV003438636] Chr20:36905454 [GRCh38]
Chr20:35533857 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.867G>T (p.Gly289=) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV001499337] Chr20:36917035 [GRCh38]
Chr20:35545438 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.993C>T (p.Tyr331=) single nucleotide variant Aicardi Goutieres syndrome [RCV001272064]|Aicardi-Goutieres syndrome 5 [RCV000914931]|Chilblain lupus 2 [RCV001138749] Chr20:36916791 [GRCh38]
Chr20:35545194 [GRCh37]
Chr20:20q11.23		 likely benign|conflicting interpretations of pathogenicity
NM_015474.4(SAMHD1):c.490C>A (p.Arg164=) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV000920396] Chr20:36935048 [GRCh38]
Chr20:35563451 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.534A>G (p.Leu178=) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV003502571] Chr20:36930851 [GRCh38]
Chr20:35559254 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.259G>C (p.Glu87Gln) single nucleotide variant Multiple myeloma [RCV000984113] Chr20:36946754 [GRCh38]
Chr20:35575157 [GRCh37]
Chr20:20q11.23		 likely pathogenic
NM_015474.4(SAMHD1):c.1350C>T (p.Tyr450=) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV001502822]|SAMHD1-related disorder [RCV004740512] Chr20:36905424 [GRCh38]
Chr20:35533827 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.400C>G (p.Arg134Gly) single nucleotide variant Aicardi Goutieres syndrome [RCV001827352]|Aicardi-Goutieres syndrome 5 [RCV001055274] Chr20:36935138 [GRCh38]
Chr20:35563541 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_015474.4(SAMHD1):c.939G>A (p.Trp313Ter) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV001042421] Chr20:36916963 [GRCh38]
Chr20:35545366 [GRCh37]
Chr20:20q11.23		 pathogenic
NM_015474.4(SAMHD1):c.1536G>C (p.Lys512Asn) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV001071833] Chr20:36898512 [GRCh38]
Chr20:35526915 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_015474.4(SAMHD1):c.1798G>A (p.Asp600Asn) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV001037649]|Aicardi-Goutieres syndrome 5 [RCV002265930] Chr20:36893015 [GRCh38]
Chr20:35521418 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_015474.4(SAMHD1):c.8G>T (p.Arg3Leu) single nucleotide variant Aicardi Goutieres syndrome [RCV001275560]|Aicardi-Goutieres syndrome 5 [RCV001036106]|Inborn genetic diseases [RCV002552458] Chr20:36951636 [GRCh38]
Chr20:35580039 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_015474.4(SAMHD1):c.249G>T (p.Glu83Asp) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV001039742] Chr20:36946764 [GRCh38]
Chr20:35575167 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_015474.4(SAMHD1):c.541G>A (p.Ala181Thr) single nucleotide variant Aicardi Goutieres syndrome [RCV001825618]|Aicardi-Goutieres syndrome 5 [RCV000810117] Chr20:36930844 [GRCh38]
Chr20:35559247 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_015474.4(SAMHD1):c.1868A>G (p.Asp623Gly) single nucleotide variant not provided [RCV000788755] Chr20:36892945 [GRCh38]
Chr20:35521348 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_015474.4(SAMHD1):c.275+8T>A single nucleotide variant Aicardi Goutieres syndrome [RCV001273106]|Aicardi-Goutieres syndrome 5 [RCV000961696] Chr20:36946730 [GRCh38]
Chr20:35575133 [GRCh37]
Chr20:20q11.23		 benign|uncertain significance
NM_015474.4(SAMHD1):c.1455C>T (p.Pro485=) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV001470156] Chr20:36904205 [GRCh38]
Chr20:35532608 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.1833A>G (p.Arg611=) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV001470706] Chr20:36892980 [GRCh38]
Chr20:35521383 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.1629G>A (p.Glu543=) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV001499352] Chr20:36897939 [GRCh38]
Chr20:35526342 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.897G>A (p.Glu299=) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV002544446] Chr20:36917005 [GRCh38]
Chr20:35545408 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.342A>G (p.Thr114=) single nucleotide variant Aicardi Goutieres syndrome [RCV001825791]|Aicardi-Goutieres syndrome 5 [RCV002065535] Chr20:36941045 [GRCh38]
Chr20:35569448 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.756T>C (p.Pro252=) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV001399825] Chr20:36919460 [GRCh38]
Chr20:35547863 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.208+8C>T single nucleotide variant Aicardi Goutieres syndrome [RCV001273107]|Aicardi-Goutieres syndrome 5 [RCV000880236]|SAMHD1-related disorder [RCV004740482] Chr20:36951428 [GRCh38]
Chr20:35579831 [GRCh37]
Chr20:20q11.23		 likely benign|uncertain significance
NM_015474.4(SAMHD1):c.1050T>C (p.Cys350=) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV000920393] Chr20:36916734 [GRCh38]
Chr20:35545137 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.510G>C (p.Gly170=) single nucleotide variant Aicardi Goutieres syndrome [RCV001275559]|Aicardi-Goutieres syndrome 5 [RCV000819127] Chr20:36930875 [GRCh38]
Chr20:35559278 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_015474.4(SAMHD1):c.768A>G (p.Gln256=) single nucleotide variant Aicardi Goutieres syndrome [RCV001272066]|Aicardi-Goutieres syndrome 5 [RCV000915841]|SAMHD1-related disorder [RCV004740505] Chr20:36919448 [GRCh38]
Chr20:35547851 [GRCh37]
Chr20:20q11.23		 likely benign|uncertain significance
NM_015474.4(SAMHD1):c.668C>T (p.Pro223Leu) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV000807548] Chr20:36927210 [GRCh38]
Chr20:35555613 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_015474.4(SAMHD1):c.1753G>A (p.Asp585Asn) single nucleotide variant Aicardi Goutieres syndrome [RCV001275557]|Aicardi-Goutieres syndrome 5 [RCV000817996]|Inborn genetic diseases [RCV004028931]|not provided [RCV004693372] Chr20:36893060 [GRCh38]
Chr20:35521463 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_015474.4(SAMHD1):c.658C>T (p.Arg220Ter) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV000816561]|Aicardi-Goutieres syndrome 5 [RCV002478901] Chr20:36927220 [GRCh38]
Chr20:35555623 [GRCh37]
Chr20:20q11.23		 pathogenic|likely pathogenic
NM_015474.4(SAMHD1):c.1476del (p.Lys492fs) deletion Aicardi Goutieres syndrome [RCV001830789]|Aicardi-Goutieres syndrome 5 [RCV000816971]|Aicardi-Goutieres syndrome 5 [RCV002495159] Chr20:36904184 [GRCh38]
Chr20:35532587 [GRCh37]
Chr20:20q11.23		 pathogenic|likely pathogenic
NM_015474.4(SAMHD1):c.626-64_626-63del deletion Aicardi-Goutieres syndrome 5 [RCV000990301]|not provided [RCV001672995] Chr20:36927315..36927316 [GRCh38]
Chr20:35555718..35555719 [GRCh37]
Chr20:20q11.23		 benign
NM_015474.4(SAMHD1):c.400C>T (p.Arg134Ter) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV000799060] Chr20:36935138 [GRCh38]
Chr20:35563541 [GRCh37]
Chr20:20q11.23		 pathogenic
NM_015474.4(SAMHD1):c.1352G>A (p.Arg451His) single nucleotide variant not provided [RCV000997773] Chr20:36905422 [GRCh38]
Chr20:35533825 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_015474.4(SAMHD1):c.1042C>T (p.Arg348Cys) single nucleotide variant Aicardi Goutieres syndrome [RCV001835958]|Aicardi-Goutieres syndrome 5 [RCV001238995]|not provided [RCV000788588] Chr20:36916742 [GRCh38]
Chr20:35545145 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_015474.4(SAMHD1):c.1174A>G (p.Lys392Glu) single nucleotide variant Aicardi Goutieres syndrome [RCV001830804]|Aicardi-Goutieres syndrome 5 [RCV000820901] Chr20:36911314 [GRCh38]
Chr20:35539717 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_015474.4(SAMHD1):c.494_495dup (p.Glu166fs) duplication Aicardi-Goutieres syndrome 5 [RCV000791724] Chr20:36935042..36935043 [GRCh38]
Chr20:35563445..35563446 [GRCh37]
Chr20:20q11.23		 pathogenic
NM_015474.4(SAMHD1):c.700G>T (p.Glu234Ter) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV000791952] Chr20:36919516 [GRCh38]
Chr20:35547919 [GRCh37]
Chr20:20q11.23		 pathogenic
NM_015474.4(SAMHD1):c.2T>A (p.Met1Lys) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV000809083]|not specified [RCV003117599] Chr20:36951642 [GRCh38]
Chr20:35580045 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_015474.4(SAMHD1):c.349-5T>C single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV001066582] Chr20:36935194 [GRCh38]
Chr20:35563597 [GRCh37]
Chr20:20q11.23		 likely benign|uncertain significance
NM_015474.4(SAMHD1):c.831A>T (p.Glu277Asp) single nucleotide variant Aicardi Goutieres syndrome [RCV001272065]|Aicardi-Goutieres syndrome 5 [RCV000792430] Chr20:36919385 [GRCh38]
Chr20:35547788 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_015474.4(SAMHD1):c.728A>C (p.His243Pro) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV000804997] Chr20:36919488 [GRCh38]
Chr20:35547891 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_015474.4(SAMHD1):c.924T>C (p.Ile308=) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV001453418] Chr20:36916978 [GRCh38]
Chr20:35545381 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.610C>T (p.Leu204Phe) single nucleotide variant Aicardi Goutieres syndrome [RCV001825622]|Aicardi-Goutieres syndrome 5 [RCV000811024] Chr20:36930775 [GRCh38]
Chr20:35559178 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_015474.4(SAMHD1):c.1263G>A (p.Lys421=) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV002065624] Chr20:36911225 [GRCh38]
Chr20:35539628 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.1608+10T>A single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV000981292] Chr20:36898430 [GRCh38]
Chr20:35526833 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.1410+5G>T single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV000804061] Chr20:36905359 [GRCh38]
Chr20:35533762 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_015474.4(SAMHD1):c.1453C>T (p.Pro485Ser) single nucleotide variant Aicardi Goutieres syndrome [RCV001830803]|Aicardi-Goutieres syndrome 5 [RCV000820612] Chr20:36904207 [GRCh38]
Chr20:35532610 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_015474.4(SAMHD1):c.733A>G (p.Ile245Val) single nucleotide variant Aicardi Goutieres syndrome [RCV001825566]|Aicardi-Goutieres syndrome 5 [RCV000797969] Chr20:36919483 [GRCh38]
Chr20:35547886 [GRCh37]
Chr20:20q11.23		 uncertain significance
NC_000020.11:g.(?_36951426)_(36951653_?)del deletion Aicardi-Goutieres syndrome 5 [RCV000809320] Chr20:36951426..36951653 [GRCh38]
Chr20:35579829..35580056 [GRCh37]
Chr20:20q11.23		 pathogenic
NM_015474.4(SAMHD1):c.1410+12G>T single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV001138327]|Chilblain lupus 2 [RCV001138328] Chr20:36905352 [GRCh38]
Chr20:35533755 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_015474.4(SAMHD1):c.625+1G>A single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV000985138] Chr20:36930759 [GRCh38]
Chr20:35559162 [GRCh37]
Chr20:20q11.23		 likely pathogenic
NC_000020.11:g.(?_36930750)_(36930885_?)dup duplication Aicardi-Goutieres syndrome 5 [RCV001031817] Chr20:35559153..35559288 [GRCh37]
Chr20:20q11.23		 likely pathogenic
NM_015474.4(SAMHD1):c.646_647del (p.Met216fs) deletion Aicardi-Goutieres syndrome 5 [RCV000985137]|not provided [RCV001092537] Chr20:36927231..36927232 [GRCh38]
Chr20:35555634..35555635 [GRCh37]
Chr20:20q11.23		 pathogenic|likely pathogenic
NM_015474.4(SAMHD1):c.11C>T (p.Ala4Val) single nucleotide variant Aicardi Goutieres syndrome [RCV001834005]|Aicardi-Goutieres syndrome 5 [RCV001231350] Chr20:36951633 [GRCh38]
Chr20:35580036 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_015474.4(SAMHD1):c.87G>T (p.Glu29Asp) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV001210637] Chr20:36951557 [GRCh38]
Chr20:35579960 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_015474.4(SAMHD1):c.1483G>C (p.Ala495Pro) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV001220647] Chr20:36904177 [GRCh38]
Chr20:35532580 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_015474.4(SAMHD1):c.19G>A (p.Glu7Lys) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV001237582] Chr20:36951625 [GRCh38]
Chr20:35580028 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_015474.4(SAMHD1):c.1105_1106del (p.Leu369fs) deletion Aicardi-Goutieres syndrome 5 [RCV001217916] Chr20:36912509..36912510 [GRCh38]
Chr20:35540912..35540913 [GRCh37]
Chr20:20q11.23		 pathogenic
NM_015474.4(SAMHD1):c.998G>A (p.Arg333His) single nucleotide variant Aicardi Goutieres syndrome [RCV001828970]|Aicardi-Goutieres syndrome 5 [RCV001241153]|not provided [RCV003311966] Chr20:36916786 [GRCh38]
Chr20:35545189 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_015474.4(SAMHD1):c.*648C>T single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV001142968]|Chilblain lupus 2 [RCV001142969] Chr20:36892284 [GRCh38]
Chr20:35520687 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_015474.4(SAMHD1):c.*505T>A single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV001142971]|Chilblain lupus 2 [RCV001142970] Chr20:36892427 [GRCh38]
Chr20:35520830 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_015474.4(SAMHD1):c.*882T>C single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV001141116]|Chilblain lupus 2 [RCV001141117] Chr20:36892050 [GRCh38]
Chr20:35520453 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_015474.4(SAMHD1):c.1725C>T (p.Asp575=) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV001141228]|Chilblain lupus 2 [RCV001141229] Chr20:36897843 [GRCh38]
Chr20:35526246 [GRCh37]
Chr20:20q11.23		 conflicting interpretations of pathogenicity|uncertain significance
NC_000020.11:g.(?_36892912)_(36898564_?)dup duplication Aicardi-Goutieres syndrome 5 [RCV001032562] Chr20:35521315..35526967 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_015474.4(SAMHD1):c.626-5T>C single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV001868393]|not provided [RCV001703375] Chr20:36927257 [GRCh38]
Chr20:35555660 [GRCh37]
Chr20:20q11.23		 likely benign|uncertain significance
NM_015474.4(SAMHD1):c.208+158A>G single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV001543332]|Chilblain lupus 2 [RCV001543333]|not provided [RCV001647388] Chr20:36951278 [GRCh38]
Chr20:35579681 [GRCh37]
Chr20:20q11.23		 benign
NM_015474.4(SAMHD1):c.626-256T>C single nucleotide variant not provided [RCV001675473] Chr20:36927508 [GRCh38]
Chr20:35555911 [GRCh37]
Chr20:20q11.23		 benign
NM_015474.4(SAMHD1):c.1410+305G>A single nucleotide variant not provided [RCV001688837] Chr20:36905059 [GRCh38]
Chr20:35533462 [GRCh37]
Chr20:20q11.23		 benign
NM_015474.4(SAMHD1):c.1063-206_1063-200del deletion not provided [RCV001594605] Chr20:36912752..36912758 [GRCh38]
Chr20:35541155..35541161 [GRCh37]
Chr20:20q11.23		 benign
NM_015474.4(SAMHD1):c.1242C>T (p.Asp414=) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV000978254]|not provided [RCV003432981] Chr20:36911246 [GRCh38]
Chr20:35539649 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.1747-17CT[3] microsatellite Aicardi-Goutieres syndrome 5 [RCV000911040] Chr20:36893076..36893077 [GRCh38]
Chr20:35521479..35521480 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.1154+9C>T single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV000928203] Chr20:36912452 [GRCh38]
Chr20:35540855 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.93C>T (p.Asp31=) single nucleotide variant Aicardi Goutieres syndrome [RCV001273108]|Aicardi-Goutieres syndrome 5 [RCV000931329] Chr20:36951551 [GRCh38]
Chr20:35579954 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.209-15dup duplication Aicardi-Goutieres syndrome 5 [RCV001474244] Chr20:36946813..36946814 [GRCh38]
Chr20:35575216..35575217 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.513G>T (p.Val171=) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV000939921] Chr20:36930872 [GRCh38]
Chr20:35559275 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.1743G>A (p.Pro581=) single nucleotide variant Aicardi Goutieres syndrome [RCV001272061]|Aicardi-Goutieres syndrome 5 [RCV000917920]|not provided [RCV003222172] Chr20:36897825 [GRCh38]
Chr20:35526228 [GRCh37]
Chr20:20q11.23		 likely benign|uncertain significance
NM_015474.4(SAMHD1):c.454G>C (p.Gly152Arg) single nucleotide variant Aicardi Goutieres syndrome [RCV001836234]|Aicardi-Goutieres syndrome 5 [RCV001245160] Chr20:36935084 [GRCh38]
Chr20:35563487 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_015474.4(SAMHD1):c.1368T>G (p.Tyr456Ter) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV001051042] Chr20:36905406 [GRCh38]
Chr20:35533809 [GRCh37]
Chr20:20q11.23		 pathogenic
NM_015474.4(SAMHD1):c.152_155dup (p.Phe53fs) duplication Aicardi-Goutieres syndrome 5 [RCV001245426] Chr20:36951488..36951489 [GRCh38]
Chr20:35579891..35579892 [GRCh37]
Chr20:20q11.23		 pathogenic
NM_015474.4(SAMHD1):c.546G>A (p.Leu182=) single nucleotide variant Aicardi Goutieres syndrome [RCV001836161]|Aicardi-Goutieres syndrome 5 [RCV001217143]|not provided [RCV003326554] Chr20:36930839 [GRCh38]
Chr20:35559242 [GRCh37]
Chr20:20q11.23		 likely benign|uncertain significance
NM_015474.4(SAMHD1):c.580C>T (p.Arg194Ter) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV001067942] Chr20:36930805 [GRCh38]
Chr20:35559208 [GRCh37]
Chr20:20q11.23		 pathogenic
NM_015474.4(SAMHD1):c.1155-122G>C single nucleotide variant not provided [RCV001541389] Chr20:36911455 [GRCh38]
Chr20:35539858 [GRCh37]
Chr20:20q11.23		 benign
NM_015474.4(SAMHD1):c.510-74T>G single nucleotide variant not provided [RCV001656892]|not specified [RCV003401556] Chr20:36930949 [GRCh38]
Chr20:35559352 [GRCh37]
Chr20:20q11.23		 benign
NM_015474.4(SAMHD1):c.1063-225_1063-224dup duplication not provided [RCV001639619] Chr20:36912751..36912752 [GRCh38]
Chr20:35541154..35541155 [GRCh37]
Chr20:20q11.23		 benign
NM_015474.4(SAMHD1):c.1609-215C>T single nucleotide variant not provided [RCV001639661] Chr20:36898174 [GRCh38]
Chr20:35526577 [GRCh37]
Chr20:20q11.23		 benign
NM_015474.4(SAMHD1):c.1503+114_1503+115insAAGAAGTCATC insertion not provided [RCV001710301] Chr20:36904042..36904043 [GRCh38]
Chr20:35532445..35532446 [GRCh37]
Chr20:20q11.23		 benign
NM_015474.4(SAMHD1):c.543A>T (p.Ala181=) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV001143184]|Chilblain lupus 2 [RCV001141332] Chr20:36930842 [GRCh38]
Chr20:35559245 [GRCh37]
Chr20:20q11.23		 conflicting interpretations of pathogenicity|uncertain significance
NM_015474.4(SAMHD1):c.1444A>G (p.Ser482Gly) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV001143072]|Chilblain lupus 2 [RCV001143073] Chr20:36904216 [GRCh38]
Chr20:35532619 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_015474.4(SAMHD1):c.1325G>A (p.Arg442Gln) single nucleotide variant Aicardi Goutieres syndrome [RCV001833718]|Aicardi-Goutieres syndrome 5 [RCV001138330]|Chilblain lupus 2 [RCV001138329] Chr20:36905449 [GRCh38]
Chr20:35533852 [GRCh37]
Chr20:20q11.23		 benign|uncertain significance
NM_015474.4(SAMHD1):c.990T>C (p.Asp330=) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV001138751]|Chilblain lupus 2 [RCV001138750] Chr20:36916794 [GRCh38]
Chr20:35545197 [GRCh37]
Chr20:20q11.23		 conflicting interpretations of pathogenicity|uncertain significance
NM_015474.4(SAMHD1):c.*871G>A single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV001141118]|Chilblain lupus 2 [RCV001141119] Chr20:36892061 [GRCh38]
Chr20:35520464 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_015474.4(SAMHD1):c.*717G>C single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV001141121]|Chilblain lupus 2 [RCV001141120] Chr20:36892215 [GRCh38]
Chr20:35520618 [GRCh37]
Chr20:20q11.23		 uncertain significance
NC_000020.11:g.(?_36946728)_(36951653_?)del deletion Aicardi-Goutieres syndrome 5 [RCV001031593] Chr20:35575131..35580056 [GRCh37]
Chr20:20q11.23		 pathogenic
NC_000020.11:g.(?_36911208)_(36919529_?)dup duplication Aicardi-Goutieres syndrome 5 [RCV001031934] Chr20:35539611..35547932 [GRCh37]
Chr20:20q11.23		 likely pathogenic
NM_015474.4(SAMHD1):c.*120C>T single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV001138653]|Chilblain lupus 2 [RCV001138652] Chr20:36892812 [GRCh38]
Chr20:35521215 [GRCh37]
Chr20:20q11.23		 benign|likely benign
NM_015474.4(SAMHD1):c.*104G>C single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV001138654]|Chilblain lupus 2 [RCV001138655] Chr20:36892828 [GRCh38]
Chr20:35521231 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_015474.4(SAMHD1):c.626-266G>A single nucleotide variant not provided [RCV001695645] Chr20:36927518 [GRCh38]
Chr20:35555921 [GRCh37]
Chr20:20q11.23		 benign
NM_015474.4(SAMHD1):c.1747-190G>A single nucleotide variant not provided [RCV001691295] Chr20:36893256 [GRCh38]
Chr20:35521659 [GRCh37]
Chr20:20q11.23		 benign
NC_000020.11:g.(?_36951436)_(36951643_?)del deletion Aicardi-Goutieres syndrome 5 [RCV001033622] Chr20:35579839..35580046 [GRCh37]
Chr20:20q11.23		 pathogenic
NM_015474.4(SAMHD1):c.1081G>A (p.Asp361Asn) single nucleotide variant Aicardi Goutieres syndrome [RCV001275558]|Aicardi-Goutieres syndrome 5 [RCV001048091] Chr20:36912534 [GRCh38]
Chr20:35540937 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_015474.4(SAMHD1):c.1063-225dup duplication not provided [RCV001683914] Chr20:36912751..36912752 [GRCh38]
Chr20:35541154..35541155 [GRCh37]
Chr20:20q11.23		 benign
NM_015474.4(SAMHD1):c.1094C>A (p.Thr365Asn) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV001048787] Chr20:36912521 [GRCh38]
Chr20:35540924 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_015474.4(SAMHD1):c.1271-5G>A single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV001138331]|Chilblain lupus 2 [RCV001138332] Chr20:36905508 [GRCh38]
Chr20:35533911 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_015474.4(SAMHD1):c.121G>T (p.Asp41Tyr) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV001035257] Chr20:36951523 [GRCh38]
Chr20:35579926 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_015474.4(SAMHD1):c.821G>A (p.Gly274Glu) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV001204971] Chr20:36919395 [GRCh38]
Chr20:35547798 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_015474.4(SAMHD1):c.290G>A (p.Arg97Lys) single nucleotide variant Aicardi Goutieres syndrome [RCV001828752]|Aicardi-Goutieres syndrome 5 [RCV001220375] Chr20:36941097 [GRCh38]
Chr20:35569500 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_015474.4(SAMHD1):c.1015C>T (p.Arg339Cys) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV001138747]|Chilblain lupus 2 [RCV001138748]|not provided [RCV003433024] Chr20:36916769 [GRCh38]
Chr20:35545172 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_015474.4(SAMHD1):c.511G>T (p.Val171Leu) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV001042558] Chr20:36930874 [GRCh38]
Chr20:35559277 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_015474.4(SAMHD1):c.1259C>G (p.Thr420Ser) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV001057335] Chr20:36911229 [GRCh38]
Chr20:35539632 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_015474.4(SAMHD1):c.1471G>A (p.Val491Met) single nucleotide variant Aicardi Goutieres syndrome [RCV001835340]|Aicardi-Goutieres syndrome 5 [RCV001248607] Chr20:36904189 [GRCh38]
Chr20:35532592 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_015474.4(SAMHD1):c.1674C>G (p.Asp558Glu) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV001217951] Chr20:36897894 [GRCh38]
Chr20:35526297 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_015474.4(SAMHD1):c.901G>C (p.Val301Leu) single nucleotide variant Aicardi Goutieres syndrome [RCV001827364]|Aicardi-Goutieres syndrome 5 [RCV001058250] Chr20:36917001 [GRCh38]
Chr20:35545404 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_015474.4(SAMHD1):c.5_7dup (p.Gln2dup) duplication Aicardi Goutieres syndrome [RCV001833794]|Aicardi-Goutieres syndrome 5 [RCV001204003] Chr20:36951636..36951637 [GRCh38]
Chr20:35580039..35580040 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_015474.4(SAMHD1):c.226G>T (p.Ala76Ser) single nucleotide variant Aicardi Goutieres syndrome [RCV001830029]|Aicardi-Goutieres syndrome 5 [RCV001248068] Chr20:36946787 [GRCh38]
Chr20:35575190 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_015474.4(SAMHD1):c.696+5G>A single nucleotide variant Aicardi Goutieres syndrome [RCV001833867]|Aicardi-Goutieres syndrome 5 [RCV001213297] Chr20:36927177 [GRCh38]
Chr20:35555580 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_015474.4(SAMHD1):c.1022_1028del (p.Val340_Cys341insTer) deletion Aicardi-Goutieres syndrome 5 [RCV001213659] Chr20:36916756..36916762 [GRCh38]
Chr20:35545159..35545165 [GRCh37]
Chr20:20q11.23		 pathogenic
NM_015474.4(SAMHD1):c.434G>C (p.Arg145Pro) single nucleotide variant not provided [RCV001092538] Chr20:36935104 [GRCh38]
Chr20:35563507 [GRCh37]
Chr20:20q11.23		 likely pathogenic
NM_015474.4(SAMHD1):c.66del (p.Ser23fs) deletion Aicardi-Goutieres syndrome 5 [RCV001064679] Chr20:36951578 [GRCh38]
Chr20:35579981 [GRCh37]
Chr20:20q11.23		 pathogenic
NM_015474.4(SAMHD1):c.1222C>T (p.Arg408Cys) single nucleotide variant Aicardi Goutieres syndrome [RCV001828847]|Aicardi-Goutieres syndrome 5 [RCV001231507] Chr20:36911266 [GRCh38]
Chr20:35539669 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_015474.4(SAMHD1):c.562G>C (p.Glu188Gln) single nucleotide variant Aicardi Goutieres syndrome [RCV001827304]|Aicardi-Goutieres syndrome 5 [RCV001047924] Chr20:36930823 [GRCh38]
Chr20:35559226 [GRCh37]
Chr20:20q11.23		 uncertain significance
NC_000020.11:g.(?_36927172)_(36927262_?)dup duplication Aicardi-Goutieres syndrome 5 [RCV001033594] Chr20:35555575..35555665 [GRCh37]
Chr20:20q11.23		 likely pathogenic
NM_015474.4(SAMHD1):c.933C>T (p.Asp311=) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV001141331]|Chilblain lupus 2 [RCV001141330] Chr20:36916969 [GRCh38]
Chr20:35545372 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_015474.4(SAMHD1):c.130_134del (p.Thr44fs) deletion Aicardi-Goutieres syndrome 5 [RCV001254922] Chr20:36951510..36951514 [GRCh38]
Chr20:35579913..35579917 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_015474.4(SAMHD1):c.1096C>T (p.Arg366Cys) single nucleotide variant Aicardi Goutieres syndrome [RCV001830302]|Aicardi-Goutieres syndrome 5 [RCV001316676] Chr20:36912519 [GRCh38]
Chr20:35540922 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_015474.4(SAMHD1):c.889C>G (p.Leu297Val) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV001321144] Chr20:36917013 [GRCh38]
Chr20:35545416 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_015474.4(SAMHD1):c.1511A>C (p.Asn504Thr) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV001302854] Chr20:36898537 [GRCh38]
Chr20:35526940 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_015474.4(SAMHD1):c.1033A>G (p.Asn345Asp) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV001348451] Chr20:36916751 [GRCh38]
Chr20:35545154 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_015474.4(SAMHD1):c.1609-1G>T single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV001334862] Chr20:36897960 [GRCh38]
Chr20:35526363 [GRCh37]
Chr20:20q11.23		 pathogenic
NM_015474.4(SAMHD1):c.678C>T (p.Arg226=) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV001423217] Chr20:36927200 [GRCh38]
Chr20:35555603 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.1860T>C (p.Leu620=) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV001412760] Chr20:36892953 [GRCh38]
Chr20:35521356 [GRCh37]
Chr20:20q11.23		 likely benign
NC_000020.10:g.(?_35563422)_(35563602_?)del deletion Aicardi-Goutieres syndrome 5 [RCV001382503] Chr20:35563422..35563602 [GRCh37]
Chr20:20q11.23		 pathogenic
NM_015474.4(SAMHD1):c.1623G>A (p.Leu541=) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV001414408]|not provided [RCV002511087] Chr20:36897945 [GRCh38]
Chr20:35526348 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.1862T>A (p.Phe621Tyr) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV001368156] Chr20:36892951 [GRCh38]
Chr20:35521354 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_015474.4(SAMHD1):c.1063-4G>T single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV001413388] Chr20:36912556 [GRCh38]
Chr20:35540959 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.1725C>G (p.Asp575Glu) single nucleotide variant Aicardi Goutieres syndrome [RCV001279952] Chr20:36897843 [GRCh38]
Chr20:35526246 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_015474.4(SAMHD1):c.792T>C (p.Asp264=) single nucleotide variant Aicardi Goutieres syndrome [RCV001279953] Chr20:36919424 [GRCh38]
Chr20:35547827 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_015474.4(SAMHD1):c.680C>T (p.Pro227Leu) single nucleotide variant Aicardi Goutieres syndrome [RCV001835488]|Aicardi-Goutieres syndrome 5 [RCV001305928] Chr20:36927198 [GRCh38]
Chr20:35555601 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_015474.4(SAMHD1):c.275+9G>A single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV001421803] Chr20:36946729 [GRCh38]
Chr20:35575132 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.411T>C (p.Asp137=) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV001414634] Chr20:36935127 [GRCh38]
Chr20:35563530 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.1384C>A (p.Pro462Thr) single nucleotide variant Aicardi Goutieres syndrome [RCV001825959]|Aicardi-Goutieres syndrome 5 [RCV001350103] Chr20:36905390 [GRCh38]
Chr20:35533793 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_015474.4(SAMHD1):c.225C>T (p.Gly75=) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV001319919] Chr20:36946788 [GRCh38]
Chr20:35575191 [GRCh37]
Chr20:20q11.23		 likely benign|uncertain significance
NC_000020.10:g.(?_35545105)_(35547942_?)del deletion Aicardi-Goutieres syndrome 5 [RCV001344718] Chr20:35545105..35547942 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_015474.4(SAMHD1):c.1723G>A (p.Asp575Asn) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV001345737] Chr20:36897845 [GRCh38]
Chr20:35526248 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_015474.4(SAMHD1):c.1608G>A (p.Gln536=) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV001324379] Chr20:36898440 [GRCh38]
Chr20:35526843 [GRCh37]
Chr20:20q11.23		 likely pathogenic|uncertain significance
NM_015474.4(SAMHD1):c.1565G>A (p.Cys522Tyr) single nucleotide variant Aicardi Goutieres syndrome [RCV001831321]|Aicardi-Goutieres syndrome 5 [RCV001373018] Chr20:36898483 [GRCh38]
Chr20:35526886 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_015474.4(SAMHD1):c.254G>A (p.Arg85His) single nucleotide variant Aicardi Goutieres syndrome [RCV001831171]|Aicardi-Goutieres syndrome 5 [RCV001351589] Chr20:36946759 [GRCh38]
Chr20:35575162 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_015474.4(SAMHD1):c.1693G>A (p.Ala565Thr) single nucleotide variant Aicardi Goutieres syndrome [RCV001835589]|Aicardi-Goutieres syndrome 5 [RCV001318266]|SAMHD1-related disorder [RCV004740664]|not provided [RCV003313214] Chr20:36897875 [GRCh38]
Chr20:35526278 [GRCh37]
Chr20:20q11.23		 likely pathogenic|uncertain significance
NM_015474.4(SAMHD1):c.43T>G (p.Cys15Gly) single nucleotide variant Aicardi Goutieres syndrome [RCV001830369]|Aicardi-Goutieres syndrome 5 [RCV001325221] Chr20:36951601 [GRCh38]
Chr20:35580004 [GRCh37]
Chr20:20q11.23		 uncertain significance
NC_000020.10:g.(?_35532540)_(35540975_?)del deletion Aicardi Goutieres syndrome 5 [RCV001325294] Chr20:35532540..35540975 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_015474.4(SAMHD1):c.537T>A (p.Val179=) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV001395335]|SAMHD1-related disorder [RCV004550109] Chr20:36930848 [GRCh38]
Chr20:35559251 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.997C>T (p.Arg333Cys) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV001330674] Chr20:36916787 [GRCh38]
Chr20:35545190 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_015474.4(SAMHD1):c.288G>A (p.Glu96=) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV001395175] Chr20:36941099 [GRCh38]
Chr20:35569502 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.516G>T (p.Gly172=) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV001395507] Chr20:36930869 [GRCh38]
Chr20:35559272 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.1746+10C>T single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV001464748] Chr20:36897812 [GRCh38]
Chr20:35526215 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.1125A>G (p.Gln375=) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV001479204] Chr20:36912490 [GRCh38]
Chr20:35540893 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.1014C>T (p.Ala338=) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV001496030] Chr20:36916770 [GRCh38]
Chr20:35545173 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.509+1G>A single nucleotide variant Aicardi Goutieres syndrome [RCV001831349]|Aicardi-Goutieres syndrome 5 [RCV001378011] Chr20:36935028 [GRCh38]
Chr20:35563431 [GRCh37]
Chr20:20q11.23		 likely pathogenic
NM_015474.4(SAMHD1):c.534A>C (p.Leu178=) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV001458837] Chr20:36930851 [GRCh38]
Chr20:35559254 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.1812C>A (p.Val604=) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV001473791] Chr20:36893001 [GRCh38]
Chr20:35521404 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.267T>G (p.Leu89=) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV001491259] Chr20:36946746 [GRCh38]
Chr20:35575149 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.328del (p.Ile110fs) deletion Aicardi-Goutieres syndrome 5 [RCV001387841] Chr20:36941059 [GRCh38]
Chr20:35569462 [GRCh37]
Chr20:20q11.23		 pathogenic
NM_015474.4(SAMHD1):c.525A>C (p.Ala175=) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV001488650] Chr20:36930860 [GRCh38]
Chr20:35559263 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.18C>T (p.Ser6=) single nucleotide variant Aicardi Goutieres syndrome [RCV001826310]|Aicardi-Goutieres syndrome 5 [RCV001476925] Chr20:36951626 [GRCh38]
Chr20:35580029 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.1062+7T>C single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV001462025] Chr20:36916715 [GRCh38]
Chr20:35545118 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.12C>A (p.Ala4=) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV001431228] Chr20:36951632 [GRCh38]
Chr20:35580035 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.348+7G>A single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV001479670] Chr20:36941032 [GRCh38]
Chr20:35569435 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.438C>T (p.Tyr146=) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV001403440] Chr20:36935100 [GRCh38]
Chr20:35563503 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.1334dup (p.Leu445fs) duplication Aicardi-Goutieres syndrome 5 [RCV001383684] Chr20:36905439..36905440 [GRCh38]
Chr20:35533842..35533843 [GRCh37]
Chr20:20q11.23		 pathogenic
NM_015474.4(SAMHD1):c.672T>C (p.Leu224=) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV001437990] Chr20:36927206 [GRCh38]
Chr20:35555609 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.174C>T (p.Gly58=) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV001502143] Chr20:36951470 [GRCh38]
Chr20:35579873 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.699T>C (p.His233=) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV001404399] Chr20:36919517 [GRCh38]
Chr20:35547920 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.1419del (p.Asp472_Tyr473insTer) deletion Aicardi-Goutieres syndrome 5 [RCV001381077] Chr20:36904241 [GRCh38]
Chr20:35532644 [GRCh37]
Chr20:20q11.23		 pathogenic
NM_015474.4(SAMHD1):c.1467A>G (p.Leu489=) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV001403116] Chr20:36904193 [GRCh38]
Chr20:35532596 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.795T>C (p.Ile265=) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV001445976] Chr20:36919421 [GRCh38]
Chr20:35547824 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.568_577del (p.Gln190fs) deletion Aicardi-Goutieres syndrome 5 [RCV001384991]|not provided [RCV001840806] Chr20:36930808..36930817 [GRCh38]
Chr20:35559211..35559220 [GRCh37]
Chr20:20q11.23		 pathogenic
NM_015474.4(SAMHD1):c.300G>A (p.Leu100=) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV001428864] Chr20:36941087 [GRCh38]
Chr20:35569490 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.1321dup (p.Ala441fs) duplication Aicardi-Goutieres syndrome 5 [RCV001389856] Chr20:36905452..36905453 [GRCh38]
Chr20:35533855..35533856 [GRCh37]
Chr20:20q11.23		 pathogenic
NM_015474.4(SAMHD1):c.90A>C (p.Ala30=) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV001424943] Chr20:36951554 [GRCh38]
Chr20:35579957 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.1752C>T (p.Gly584=) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV001432891] Chr20:36893061 [GRCh38]
Chr20:35521464 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.66C>G (p.Pro22=) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV001392916] Chr20:36951578 [GRCh38]
Chr20:35579981 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.348+7G>C single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV001444286] Chr20:36941032 [GRCh38]
Chr20:35569435 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.953+1G>A single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV001378132] Chr20:36916948 [GRCh38]
Chr20:35545351 [GRCh37]
Chr20:20q11.23		 likely pathogenic
NM_015474.4(SAMHD1):c.1410+6dup duplication Aicardi-Goutieres syndrome 5 [RCV001419000] Chr20:36905356..36905357 [GRCh38]
Chr20:35533759..35533760 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.459T>C (p.Gly153=) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV001407593] Chr20:36935079 [GRCh38]
Chr20:35563482 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.126C>T (p.Tyr42=) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV001446806] Chr20:36951518 [GRCh38]
Chr20:35579921 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.209-10T>C single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV001405796] Chr20:36946814 [GRCh38]
Chr20:35575217 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.1645C>T (p.Leu549=) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV001444960] Chr20:36897923 [GRCh38]
Chr20:35526326 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.276-105C>A single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV001543330]|Chilblain lupus 2 [RCV001543331]|not provided [RCV001615265]|not specified [RCV003399345] Chr20:36941216 [GRCh38]
Chr20:35569619 [GRCh37]
Chr20:20q11.23		 benign
NM_015474.4(SAMHD1):c.1567A>T (p.Lys523Ter) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV001384083] Chr20:36898481 [GRCh38]
Chr20:35526884 [GRCh37]
Chr20:20q11.23		 pathogenic
NM_015474.4(SAMHD1):c.1608+7A>C single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV001445155] Chr20:36898433 [GRCh38]
Chr20:35526836 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.567G>A (p.Leu189=) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV001445471] Chr20:36930818 [GRCh38]
Chr20:35559221 [GRCh37]
Chr20:20q11.23		 likely benign
GRCh37/hg19 20q11.23(chr20:35577194-35586176)x1 copy number loss not provided [RCV001537916] Chr20:35577194..35586176 [GRCh37]
Chr20:20q11.23		 pathogenic
NM_015474.4(SAMHD1):c.747A>C (p.Gly249=) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV001408809] Chr20:36919469 [GRCh38]
Chr20:35547872 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.828T>C (p.Leu276=) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV001429729] Chr20:36919388 [GRCh38]
Chr20:35547791 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.209-4A>G single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV001440654]|Inborn genetic diseases [RCV002555574] Chr20:36946808 [GRCh38]
Chr20:35575211 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.1200A>G (p.Thr400=) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV001403013] Chr20:36911288 [GRCh38]
Chr20:35539691 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.348+9A>T single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV001493954] Chr20:36941030 [GRCh38]
Chr20:35569433 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.291G>A (p.Arg97=) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV001451324] Chr20:36941096 [GRCh38]
Chr20:35569499 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.509+8G>A single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV001486367] Chr20:36935021 [GRCh38]
Chr20:35563424 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.1023T>C (p.Cys341=) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV001502525] Chr20:36916761 [GRCh38]
Chr20:35545164 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.657A>G (p.Gly219=) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV001458875] Chr20:36927221 [GRCh38]
Chr20:35555624 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.384C>T (p.Leu128=) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV001473904] Chr20:36935154 [GRCh38]
Chr20:35563557 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.339T>C (p.Asp113=) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV001496948] Chr20:36941048 [GRCh38]
Chr20:35569451 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.1254C>T (p.Ala418=) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV001452621] Chr20:36911234 [GRCh38]
Chr20:35539637 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.1224C>A (p.Arg408=) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV001487666] Chr20:36911264 [GRCh38]
Chr20:35539667 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.275+9G>C single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV001480655] Chr20:36946729 [GRCh38]
Chr20:35575132 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.625+249G>T single nucleotide variant not provided [RCV001654126] Chr20:36930511 [GRCh38]
Chr20:35558914 [GRCh37]
Chr20:20q11.23		 benign
NM_015474.4(SAMHD1):c.349-32G>A single nucleotide variant not provided [RCV001616668] Chr20:36935221 [GRCh38]
Chr20:35563624 [GRCh37]
Chr20:20q11.23		 benign
NM_015474.4(SAMHD1):c.396C>T (p.Leu132=) single nucleotide variant Aicardi Goutieres syndrome [RCV001831468]|Aicardi-Goutieres syndrome 5 [RCV001419361] Chr20:36935142 [GRCh38]
Chr20:35563545 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.1848C>T (p.Ser616=) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV001442157] Chr20:36892965 [GRCh38]
Chr20:35521368 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.229T>C (p.Leu77=) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV001497747] Chr20:36946784 [GRCh38]
Chr20:35575187 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.1227T>A (p.Ile409=) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV001501604] Chr20:36911261 [GRCh38]
Chr20:35539664 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.441C>A (p.Ile147=) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV001469094] Chr20:36935097 [GRCh38]
Chr20:35563500 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.294G>A (p.Lys98=) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV001470723] Chr20:36941093 [GRCh38]
Chr20:35569496 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.1257T>C (p.Tyr419=) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV001501873] Chr20:36911231 [GRCh38]
Chr20:35539634 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.681G>T (p.Pro227=) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV001506885] Chr20:36927197 [GRCh38]
Chr20:35555600 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.1518T>C (p.Asp506=) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV001481728] Chr20:36898530 [GRCh38]
Chr20:35526933 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.1470C>T (p.Asp490=) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV001465965] Chr20:36904190 [GRCh38]
Chr20:35532593 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.333C>T (p.His111=) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV001440426] Chr20:36941054 [GRCh38]
Chr20:35569457 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.516G>A (p.Gly172=) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV001496495] Chr20:36930869 [GRCh38]
Chr20:35559272 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.1063-6C>T single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV001453933] Chr20:36912558 [GRCh38]
Chr20:35540961 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.1455C>G (p.Pro485=) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV001432426] Chr20:36904205 [GRCh38]
Chr20:35532608 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.57G>A (p.Pro19=) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV001454028] Chr20:36951587 [GRCh38]
Chr20:35579990 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.1368T>C (p.Tyr456=) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV001466424] Chr20:36905406 [GRCh38]
Chr20:35533809 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.120C>T (p.Pro40=) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV001459367] Chr20:36951524 [GRCh38]
Chr20:35579927 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.510-7T>C single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV001418488] Chr20:36930882 [GRCh38]
Chr20:35559285 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.753G>A (p.Lys251=) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV001494138] Chr20:36919463 [GRCh38]
Chr20:35547866 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.349-18T>C single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV001416623] Chr20:36935207 [GRCh38]
Chr20:35563610 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.68C>G (p.Ser23Ter) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV001389810]|Aicardi-Goutieres syndrome 5 [RCV002499817] Chr20:36951576 [GRCh38]
Chr20:35579979 [GRCh37]
Chr20:20q11.23		 pathogenic|likely pathogenic
NM_015474.4(SAMHD1):c.1563T>C (p.Tyr521=) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV001481000] Chr20:36898485 [GRCh38]
Chr20:35526888 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.114C>G (p.Leu38=) single nucleotide variant Aicardi Goutieres syndrome [RCV001832622]|Aicardi-Goutieres syndrome 5 [RCV001477304]|SAMHD1-related disorder [RCV004550233] Chr20:36951530 [GRCh38]
Chr20:35579933 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.317G>T (p.Arg106Leu) single nucleotide variant Inborn genetic diseases [RCV003252535] Chr20:36941070 [GRCh38]
Chr20:35569473 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_015474.4(SAMHD1):c.1049G>A (p.Cys350Tyr) single nucleotide variant not provided [RCV001787000] Chr20:36916735 [GRCh38]
Chr20:35545138 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_015474.4(SAMHD1):c.841G>A (p.Glu281Lys) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV002544353]|not specified [RCV001797932] Chr20:36919375 [GRCh38]
Chr20:35547778 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_015474.4(SAMHD1):c.626-63del deletion not provided [RCV001779703] Chr20:36927315 [GRCh38]
Chr20:35555718 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.2T>C (p.Met1Thr) single nucleotide variant not specified [RCV001779525] Chr20:36951642 [GRCh38]
Chr20:35580045 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_015474.4(SAMHD1):c.504T>A (p.Ser168Arg) single nucleotide variant not provided [RCV001757354] Chr20:36935034 [GRCh38]
Chr20:35563437 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_015474.4(SAMHD1):c.1634T>G (p.Phe545Cys) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV001806364] Chr20:36897934 [GRCh38]
Chr20:35526337 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_015474.4(SAMHD1):c.1520A>G (p.Tyr507Cys) single nucleotide variant not provided [RCV001816305] Chr20:36898528 [GRCh38]
Chr20:35526931 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_015474.4(SAMHD1):c.1136G>A (p.Gly379Asp) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV001970603] Chr20:36912479 [GRCh38]
Chr20:35540882 [GRCh37]
Chr20:20q11.23		 uncertain significance
NC_000020.10:g.(?_35563422)_(35563602_?)dup duplication Aicardi-Goutieres syndrome 5 [RCV002024960] Chr20:35563422..35563602 [GRCh37]
Chr20:20q11.23		 likely pathogenic
NM_015474.4(SAMHD1):c.76C>T (p.Pro26Ser) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV001969803] Chr20:36951568 [GRCh38]
Chr20:35579971 [GRCh37]
Chr20:20q11.23		 uncertain significance
NC_000020.10:g.(?_35526205)_(35580046_?)dup duplication Aicardi-Goutieres syndrome 5 [RCV002004897] Chr20:35526205..35580046 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_015474.4(SAMHD1):c.559C>A (p.Pro187Thr) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV001914862] Chr20:36930826 [GRCh38]
Chr20:35559229 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_015474.4(SAMHD1):c.196A>T (p.Lys66Ter) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV001915500] Chr20:36951448 [GRCh38]
Chr20:35579851 [GRCh37]
Chr20:20q11.23		 pathogenic
NM_015474.4(SAMHD1):c.1380G>A (p.Thr460=) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV001988168] Chr20:36905394 [GRCh38]
Chr20:35533797 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.460del (p.Tyr154fs) deletion Aicardi-Goutieres syndrome 5 [RCV001872377] Chr20:36935078 [GRCh38]
Chr20:35563481 [GRCh37]
Chr20:20q11.23		 pathogenic
NM_015474.4(SAMHD1):c.70A>G (p.Asn24Asp) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV002044811] Chr20:36951574 [GRCh38]
Chr20:35579977 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_015474.4(SAMHD1):c.521T>A (p.Leu174Gln) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV001928687] Chr20:36930864 [GRCh38]
Chr20:35559267 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_015474.4(SAMHD1):c.883A>G (p.Ser295Gly) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV002007964] Chr20:36917019 [GRCh38]
Chr20:35545422 [GRCh37]
Chr20:20q11.23		 uncertain significance
NC_000020.10:g.(?_35532550)_(35563602_?)del deletion Aicardi-Goutieres syndrome 5 [RCV002024954] Chr20:35532550..35563602 [GRCh37]
Chr20:20q11.23		 likely pathogenic
GRCh37/hg19 20q11.23(chr20:35335325-35606892)x3 copy number gain not provided [RCV001834420] Chr20:35335325..35606892 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_015474.4(SAMHD1):c.852G>A (p.Leu284=) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV001967459] Chr20:36919364 [GRCh38]
Chr20:35547767 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_015474.4(SAMHD1):c.676C>G (p.Arg226Gly) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV001837177]|Aicardi-Goutieres syndrome 5 [RCV002482382]|not specified [RCV002300600] Chr20:36927202 [GRCh38]
Chr20:35555605 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_015474.4(SAMHD1):c.1009T>C (p.Phe337Leu) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV001909135] Chr20:36916775 [GRCh38]
Chr20:35545178 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_015474.4(SAMHD1):c.181G>T (p.Glu61Ter) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV001948050] Chr20:36951463 [GRCh38]
Chr20:35579866 [GRCh37]
Chr20:20q11.23		 pathogenic
NC_000020.10:g.(?_35521335)_(35580046_?)del deletion Aicardi-Goutieres syndrome 5 [RCV001946896] Chr20:35521335..35580046 [GRCh37]
Chr20:20q11.23		 pathogenic
NM_015474.4(SAMHD1):c.1523G>A (p.Gly508Glu) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV001986121] Chr20:36898525 [GRCh38]
Chr20:35526928 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_015474.4(SAMHD1):c.1391G>A (p.Gly464Glu) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV001912201] Chr20:36905383 [GRCh38]
Chr20:35533786 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_015474.4(SAMHD1):c.1223G>A (p.Arg408His) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV001926470] Chr20:36911265 [GRCh38]
Chr20:35539668 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_015474.4(SAMHD1):c.1499T>G (p.Val500Gly) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV001909081] Chr20:36904161 [GRCh38]
Chr20:35532564 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_015474.4(SAMHD1):c.35G>A (p.Arg12His) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV001946446] Chr20:36951609 [GRCh38]
Chr20:35580012 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_015474.4(SAMHD1):c.1609-2A>G single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV001985834] Chr20:36897961 [GRCh38]
Chr20:35526364 [GRCh37]
Chr20:20q11.23		 likely pathogenic
NM_015474.4(SAMHD1):c.1658A>G (p.Tyr553Cys) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV001928436]|Inborn genetic diseases [RCV004043413] Chr20:36897910 [GRCh38]
Chr20:35526313 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_015474.4(SAMHD1):c.16T>A (p.Ser6Thr) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV001891053] Chr20:36951628 [GRCh38]
Chr20:35580031 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_015474.4(SAMHD1):c.605C>T (p.Ala202Val) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV001892248] Chr20:36930780 [GRCh38]
Chr20:35559183 [GRCh37]
Chr20:20q11.23		 uncertain significance
NC_000020.10:g.(?_35555565)_(35555675_?)dup duplication Aicardi-Goutieres syndrome 5 [RCV004579464] Chr20:35555565..35555675 [GRCh37]
Chr20:20q11.23		 likely pathogenic
NM_015474.4(SAMHD1):c.443A>G (p.Lys148Arg) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV001948859] Chr20:36935095 [GRCh38]
Chr20:35563498 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_015474.4(SAMHD1):c.1583G>A (p.Arg528Lys) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV001986984]|not provided [RCV003438910] Chr20:36898465 [GRCh38]
Chr20:35526868 [GRCh37]
Chr20:20q11.23		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_015474.4(SAMHD1):c.1639G>A (p.Glu547Lys) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV001983475] Chr20:36897929 [GRCh38]
Chr20:35526332 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_015474.4(SAMHD1):c.226G>A (p.Ala76Thr) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV001893432] Chr20:36946787 [GRCh38]
Chr20:35575190 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_015474.4(SAMHD1):c.510-17G>A single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV001913013] Chr20:36930892 [GRCh38]
Chr20:35559295 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.1238T>C (p.Ile413Thr) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV002039363] Chr20:36911250 [GRCh38]
Chr20:35539653 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_015474.4(SAMHD1):c.624C>T (p.Leu208=) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV001949021] Chr20:36930761 [GRCh38]
Chr20:35559164 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_015474.4(SAMHD1):c.1111C>T (p.Arg371Cys) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV001926960] Chr20:36912504 [GRCh38]
Chr20:35540907 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_015474.4(SAMHD1):c.1608+1G>A single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV002008088] Chr20:36898439 [GRCh38]
Chr20:35526842 [GRCh37]
Chr20:20q11.23		 likely pathogenic
NM_015474.4(SAMHD1):c.1208_1209delinsAT (p.Gly403Asp) indel Aicardi-Goutieres syndrome 5 [RCV002023147] Chr20:36911279..36911280 [GRCh38]
Chr20:35539682..35539683 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_015474.4(SAMHD1):c.17C>T (p.Ser6Phe) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV001913036] Chr20:36951627 [GRCh38]
Chr20:35580030 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_015474.4(SAMHD1):c.1780C>T (p.Gln594Ter) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV001912871] Chr20:36893033 [GRCh38]
Chr20:35521436 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_015474.4(SAMHD1):c.1016G>A (p.Arg339His) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV001927823] Chr20:36916768 [GRCh38]
Chr20:35545171 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_015474.4(SAMHD1):c.208+4G>A single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV002043696] Chr20:36951432 [GRCh38]
Chr20:35579835 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_015474.4(SAMHD1):c.173G>A (p.Gly58Asp) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV001907960] Chr20:36951471 [GRCh38]
Chr20:35579874 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_015474.4(SAMHD1):c.55C>T (p.Pro19Ser) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV001983598] Chr20:36951589 [GRCh38]
Chr20:35579992 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_015474.4(SAMHD1):c.127A>T (p.Lys43Ter) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV001942237] Chr20:36951517 [GRCh38]
Chr20:35579920 [GRCh37]
Chr20:20q11.23		 pathogenic
NM_015474.4(SAMHD1):c.726G>C (p.Glu242Asp) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV001943862] Chr20:36919490 [GRCh38]
Chr20:35547893 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_015474.4(SAMHD1):c.101C>T (p.Pro34Leu) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV002038467] Chr20:36951543 [GRCh38]
Chr20:35579946 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_015474.4(SAMHD1):c.703C>T (p.Gln235Ter) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV002037938] Chr20:36919513 [GRCh38]
Chr20:35547916 [GRCh37]
Chr20:20q11.23		 pathogenic
NM_015474.4(SAMHD1):c.1608+6T>A single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV001993703] Chr20:36898434 [GRCh38]
Chr20:35526837 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_015474.4(SAMHD1):c.984T>G (p.Asn328Lys) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV001957253] Chr20:36916800 [GRCh38]
Chr20:35545203 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_015474.4(SAMHD1):c.101dup (p.Leu36fs) duplication Aicardi-Goutieres syndrome 5 [RCV001942326] Chr20:36951542..36951543 [GRCh38]
Chr20:35579945..35579946 [GRCh37]
Chr20:20q11.23		 pathogenic
NM_015474.4(SAMHD1):c.1444_1453del (p.Ser482fs) deletion Aicardi-Goutieres syndrome 5 [RCV001942341] Chr20:36904207..36904216 [GRCh38]
Chr20:35532610..35532619 [GRCh37]
Chr20:20q11.23		 pathogenic
NM_015474.4(SAMHD1):c.1201G>A (p.Gly401Ser) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV001883915] Chr20:36911287 [GRCh38]
Chr20:35539690 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_015474.4(SAMHD1):c.1739A>G (p.Lys580Arg) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV001936946] Chr20:36897829 [GRCh38]
Chr20:35526232 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_015474.4(SAMHD1):c.1291T>A (p.Leu431Ile) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV002020293] Chr20:36905483 [GRCh38]
Chr20:35533886 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_015474.4(SAMHD1):c.1609-17C>A single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV002037366] Chr20:36897976 [GRCh38]
Chr20:35526379 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.676C>T (p.Arg226Cys) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV001924906] Chr20:36927202 [GRCh38]
Chr20:35555605 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_015474.4(SAMHD1):c.1034del (p.Asn345fs) deletion Aicardi-Goutieres syndrome 5 [RCV001963130] Chr20:36916750 [GRCh38]
Chr20:35545153 [GRCh37]
Chr20:20q11.23		 pathogenic
NM_015474.4(SAMHD1):c.847T>G (p.Ser283Ala) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV002037349] Chr20:36919369 [GRCh38]
Chr20:35547772 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_015474.4(SAMHD1):c.46G>T (p.Asp16Tyr) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV001881302] Chr20:36951598 [GRCh38]
Chr20:35580001 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_015474.4(SAMHD1):c.1598C>T (p.Thr533Ile) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV001887029] Chr20:36898450 [GRCh38]
Chr20:35526853 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_015474.4(SAMHD1):c.1584del (p.Ala529fs) deletion Aicardi-Goutieres syndrome 5 [RCV001942134] Chr20:36898464 [GRCh38]
Chr20:35526867 [GRCh37]
Chr20:20q11.23		 pathogenic
NM_015474.4(SAMHD1):c.602_625+196delinsGAAATT indel Aicardi-Goutieres syndrome 5 [RCV001959037] Chr20:36930564..36930783 [GRCh38]
Chr20:35558967..35559186 [GRCh37]
Chr20:20q11.23		 pathogenic
NC_000020.10:g.(?_35575121)_(35580046_?)del deletion Aicardi-Goutieres syndrome 5 [RCV001941634] Chr20:35575121..35580046 [GRCh37]
Chr20:20q11.23		 pathogenic
NM_015474.4(SAMHD1):c.1247T>A (p.Met416Lys) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV002047788] Chr20:36911241 [GRCh38]
Chr20:35539644 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_015474.4(SAMHD1):c.693G>A (p.Trp231Ter) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV002000228] Chr20:36927185 [GRCh38]
Chr20:35555588 [GRCh37]
Chr20:20q11.23		 pathogenic
NM_015474.4(SAMHD1):c.1123C>T (p.Gln375Ter) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV001943029] Chr20:36912492 [GRCh38]
Chr20:35540895 [GRCh37]
Chr20:20q11.23		 pathogenic
NM_015474.4(SAMHD1):c.852+1G>T single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV001976447] Chr20:36919363 [GRCh38]
Chr20:35547766 [GRCh37]
Chr20:20q11.23		 likely pathogenic
NM_015474.4(SAMHD1):c.503G>T (p.Ser168Ile) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV002033359] Chr20:36935035 [GRCh38]
Chr20:35563438 [GRCh37]
Chr20:20q11.23		 uncertain significance
NC_000020.10:g.(?_35563412)_(35569534_?)del deletion Aicardi-Goutieres syndrome 5 [RCV001923007] Chr20:35563412..35569534 [GRCh37]
Chr20:20q11.23		 pathogenic|uncertain significance
NM_015474.4(SAMHD1):c.638_647del (p.Phe213fs) deletion Aicardi-Goutieres syndrome 5 [RCV001920261] Chr20:36927231..36927240 [GRCh38]
Chr20:35555634..35555643 [GRCh37]
Chr20:20q11.23		 pathogenic
NM_015474.4(SAMHD1):c.349-2A>T single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV001976673] Chr20:36935191 [GRCh38]
Chr20:35563594 [GRCh37]
Chr20:20q11.23		 likely pathogenic
NM_015474.4(SAMHD1):c.1688A>G (p.Tyr563Cys) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV001973055] Chr20:36897880 [GRCh38]
Chr20:35526283 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_015474.4(SAMHD1):c.200A>G (p.Asn67Ser) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV002028401] Chr20:36951444 [GRCh38]
Chr20:35579847 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_015474.4(SAMHD1):c.1757T>A (p.Val586Asp) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV001975472] Chr20:36893056 [GRCh38]
Chr20:35521459 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_015474.4(SAMHD1):c.1270+17A>G single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV001974364] Chr20:36911201 [GRCh38]
Chr20:35539604 [GRCh37]
Chr20:20q11.23		 likely benign
NC_000020.10:g.(?_35563412)_(35580046_?)dup duplication Aicardi-Goutieres syndrome 5 [RCV001990160] Chr20:35563412..35580046 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_015474.4(SAMHD1):c.284G>C (p.Gly95Ala) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV001954524] Chr20:36941103 [GRCh38]
Chr20:35569506 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_015474.4(SAMHD1):c.16T>G (p.Ser6Ala) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV002027399] Chr20:36951628 [GRCh38]
Chr20:35580031 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_015474.4(SAMHD1):c.1785A>T (p.Lys595Asn) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV001978174] Chr20:36893028 [GRCh38]
Chr20:35521431 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_015474.4(SAMHD1):c.1086G>A (p.Met362Ile) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV002049774] Chr20:36912529 [GRCh38]
Chr20:35540932 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_015474.4(SAMHD1):c.697-1G>T single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV001990395] Chr20:36919520 [GRCh38]
Chr20:35547923 [GRCh37]
Chr20:20q11.23		 likely pathogenic
NM_015474.4(SAMHD1):c.1155-7T>G single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV001930449] Chr20:36911340 [GRCh38]
Chr20:35539743 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_015474.4(SAMHD1):c.571A>C (p.Ile191Leu) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV001995305] Chr20:36930814 [GRCh38]
Chr20:35559217 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_015474.4(SAMHD1):c.101C>G (p.Pro34Arg) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV001880877] Chr20:36951543 [GRCh38]
Chr20:35579946 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_015474.4(SAMHD1):c.852+6T>C single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV001881488] Chr20:36919358 [GRCh38]
Chr20:35547761 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_015474.4(SAMHD1):c.565C>G (p.Leu189Val) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV001907437] Chr20:36930820 [GRCh38]
Chr20:35559223 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_015474.4(SAMHD1):c.244G>A (p.Asp82Asn) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV001936920] Chr20:36946769 [GRCh38]
Chr20:35575172 [GRCh37]
Chr20:20q11.23		 uncertain significance
NC_000020.10:g.(?_35521325)_(35580056_?)del deletion Aicardi-Goutieres syndrome 5 [RCV001959068] Chr20:35521325..35580056 [GRCh37]
Chr20:20q11.23		 pathogenic
NM_015474.4(SAMHD1):c.143A>G (p.Glu48Gly) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV001921430] Chr20:36951501 [GRCh38]
Chr20:35579904 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_015474.4(SAMHD1):c.194T>G (p.Leu65Arg) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV001997629] Chr20:36951450 [GRCh38]
Chr20:35579853 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_015474.4(SAMHD1):c.1093A>G (p.Thr365Ala) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV001906906] Chr20:36912522 [GRCh38]
Chr20:35540925 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_015474.4(SAMHD1):c.1391G>T (p.Gly464Val) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV001925122] Chr20:36905383 [GRCh38]
Chr20:35533786 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_015474.4(SAMHD1):c.104G>A (p.Gly35Asp) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV001916809] Chr20:36951540 [GRCh38]
Chr20:35579943 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_015474.4(SAMHD1):c.626-1G>C single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV002013399]|not provided [RCV003886546] Chr20:36927253 [GRCh38]
Chr20:35555656 [GRCh37]
Chr20:20q11.23		 pathogenic|likely pathogenic
NM_015474.4(SAMHD1):c.1670T>G (p.Val557Gly) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV001977168]|Inborn genetic diseases [RCV004656798] Chr20:36897898 [GRCh38]
Chr20:35526301 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_015474.4(SAMHD1):c.1705T>A (p.Phe569Ile) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV001875308] Chr20:36897863 [GRCh38]
Chr20:35526266 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_015474.4(SAMHD1):c.540C>T (p.His180=) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV001960641] Chr20:36930845 [GRCh38]
Chr20:35559248 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.1492T>A (p.Phe498Ile) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV002011201] Chr20:36904168 [GRCh38]
Chr20:35532571 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_015474.4(SAMHD1):c.681G>A (p.Pro227=) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV001879686] Chr20:36927197 [GRCh38]
Chr20:35555600 [GRCh37]
Chr20:20q11.23		 likely benign|uncertain significance
NM_015474.4(SAMHD1):c.188T>G (p.Val63Gly) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV001885580] Chr20:36951456 [GRCh38]
Chr20:35579859 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_015474.4(SAMHD1):c.23A>G (p.Gln8Arg) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV001993469] Chr20:36951621 [GRCh38]
Chr20:35580024 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_015474.4(SAMHD1):c.1435G>T (p.Glu479Ter) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV001972486] Chr20:36904225 [GRCh38]
Chr20:35532628 [GRCh37]
Chr20:20q11.23		 pathogenic
NM_015474.4(SAMHD1):c.1603A>T (p.Asn535Tyr) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV002031361] Chr20:36898445 [GRCh38]
Chr20:35526848 [GRCh37]
Chr20:20q11.23		 uncertain significance
NC_000020.10:g.(?_35521335)_(35563612_?)dup duplication Aicardi-Goutieres syndrome 5 [RCV001997072] Chr20:35521335..35563612 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_015474.4(SAMHD1):c.62C>T (p.Thr21Ile) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV001905454] Chr20:36951582 [GRCh38]
Chr20:35579985 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_015474.4(SAMHD1):c.184C>T (p.Pro62Ser) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV002017234] Chr20:36951460 [GRCh38]
Chr20:35579863 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_015474.4(SAMHD1):c.667C>T (p.Pro223Ser) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV001997428] Chr20:36927211 [GRCh38]
Chr20:35555614 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_015474.4(SAMHD1):c.1597A>G (p.Thr533Ala) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV001980631] Chr20:36898451 [GRCh38]
Chr20:35526854 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_015474.4(SAMHD1):c.650T>C (p.Phe217Ser) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV001961403] Chr20:36927228 [GRCh38]
Chr20:35555631 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_015474.4(SAMHD1):c.1193A>G (p.Glu398Gly) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV001930375] Chr20:36911295 [GRCh38]
Chr20:35539698 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_015474.4(SAMHD1):c.349-1G>A single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV001995733] Chr20:36935190 [GRCh38]
Chr20:35563593 [GRCh37]
Chr20:20q11.23		 likely pathogenic
NM_015474.4(SAMHD1):c.861T>A (p.Tyr287Ter) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV001951300] Chr20:36917041 [GRCh38]
Chr20:35545444 [GRCh37]
Chr20:20q11.23		 pathogenic
NM_015474.4(SAMHD1):c.644A>C (p.His215Pro) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV001898417] Chr20:36927234 [GRCh38]
Chr20:35555637 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_015474.4(SAMHD1):c.1034A>G (p.Asn345Ser) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV001903154] Chr20:36916750 [GRCh38]
Chr20:35545153 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_015474.4(SAMHD1):c.167G>A (p.Arg56His) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV001903096]|Inborn genetic diseases [RCV002554233]|not specified [RCV002271692] Chr20:36951477 [GRCh38]
Chr20:35579880 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_015474.4(SAMHD1):c.1742C>T (p.Pro581Leu) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV001937709] Chr20:36897826 [GRCh38]
Chr20:35526229 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_015474.4(SAMHD1):c.1160C>T (p.Thr387Ile) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV001870079] Chr20:36911328 [GRCh38]
Chr20:35539731 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_015474.4(SAMHD1):c.1199C>T (p.Thr400Ile) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV001916210]|Inborn genetic diseases [RCV002557631] Chr20:36911289 [GRCh38]
Chr20:35539692 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_015474.4(SAMHD1):c.1459G>A (p.Val487Ile) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV002027784] Chr20:36904201 [GRCh38]
Chr20:35532604 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_015474.4(SAMHD1):c.1321G>A (p.Ala441Thr) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV002015953] Chr20:36905453 [GRCh38]
Chr20:35533856 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_015474.4(SAMHD1):c.56C>G (p.Pro19Arg) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV002033849] Chr20:36951588 [GRCh38]
Chr20:35579991 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_015474.4(SAMHD1):c.316C>T (p.Arg106Ter) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV001897829] Chr20:36941071 [GRCh38]
Chr20:35569474 [GRCh37]
Chr20:20q11.23		 pathogenic
NM_015474.4(SAMHD1):c.626-9G>C single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV002189044] Chr20:36927261 [GRCh38]
Chr20:35555664 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.510-17G>T single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV002111906] Chr20:36930892 [GRCh38]
Chr20:35559295 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.1062+17G>A single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV002128703] Chr20:36916705 [GRCh38]
Chr20:35545108 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.1747-16T>A single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV002168104] Chr20:36893082 [GRCh38]
Chr20:35521485 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.153C>T (p.Cys51=) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV002206053] Chr20:36951491 [GRCh38]
Chr20:35579894 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.697-13T>C single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV002091477] Chr20:36919532 [GRCh38]
Chr20:35547935 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.744T>C (p.Asn248=) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV002089831] Chr20:36919472 [GRCh38]
Chr20:35547875 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.186G>C (p.Pro62=) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV002074747] Chr20:36951458 [GRCh38]
Chr20:35579861 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.1194G>A (p.Glu398=) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV002167590] Chr20:36911294 [GRCh38]
Chr20:35539697 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.348+18T>G single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV002111696]|not provided [RCV004717875] Chr20:36941021 [GRCh38]
Chr20:35569424 [GRCh37]
Chr20:20q11.23		 benign
NM_015474.4(SAMHD1):c.99C>T (p.Ser33=) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV002169953] Chr20:36951545 [GRCh38]
Chr20:35579948 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.1275C>T (p.Asn425=) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV002124294] Chr20:36905499 [GRCh38]
Chr20:35533902 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.63C>T (p.Thr21=) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV002104444] Chr20:36951581 [GRCh38]
Chr20:35579984 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.348+19G>A single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV002209016] Chr20:36941020 [GRCh38]
Chr20:35569423 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.243T>G (p.Leu81=) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV002167131]|not provided [RCV003438919] Chr20:36946770 [GRCh38]
Chr20:35575173 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.1767A>G (p.Pro589=) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV002144955] Chr20:36893046 [GRCh38]
Chr20:35521449 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.999C>A (p.Arg333=) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV002089745] Chr20:36916785 [GRCh38]
Chr20:35545188 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.275+15A>C single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV002091576] Chr20:36946723 [GRCh38]
Chr20:35575126 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.696+14C>T single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV002091940] Chr20:36927168 [GRCh38]
Chr20:35555571 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.849A>C (p.Ser283=) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV002169948] Chr20:36919367 [GRCh38]
Chr20:35547770 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.348+19_348+21del deletion Aicardi-Goutieres syndrome 5 [RCV002090171] Chr20:36941018..36941020 [GRCh38]
Chr20:35569421..35569423 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.12C>T (p.Ala4=) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV002117203] Chr20:36951632 [GRCh38]
Chr20:35580035 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.645C>T (p.His215=) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV002080748] Chr20:36927233 [GRCh38]
Chr20:35555636 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.786A>G (p.Glu262=) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV002174966]|not provided [RCV003434390] Chr20:36919430 [GRCh38]
Chr20:35547833 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.509+10G>A single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV002153708] Chr20:36935019 [GRCh38]
Chr20:35563422 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.208+12G>C single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV002170862] Chr20:36951424 [GRCh38]
Chr20:35579827 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.276-20T>C single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV002115070] Chr20:36941131 [GRCh38]
Chr20:35569534 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.1302T>C (p.Thr434=) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV002196808] Chr20:36905472 [GRCh38]
Chr20:35533875 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.625+8G>A single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV002114901] Chr20:36930752 [GRCh38]
Chr20:35559155 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.448C>T (p.Leu150=) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV002153571] Chr20:36935090 [GRCh38]
Chr20:35563493 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.1270+7A>T single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV002133004] Chr20:36911211 [GRCh38]
Chr20:35539614 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.208+12G>A single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV002185744] Chr20:36951424 [GRCh38]
Chr20:35579827 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.9A>G (p.Arg3=) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV002194767] Chr20:36951635 [GRCh38]
Chr20:35580038 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.285G>A (p.Gly95=) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV002078933] Chr20:36941102 [GRCh38]
Chr20:35569505 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.1747-12_1747-9del deletion Aicardi-Goutieres syndrome 5 [RCV002079081] Chr20:36893075..36893078 [GRCh38]
Chr20:35521478..35521481 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.111A>G (p.Glu37=) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV002145365] Chr20:36951533 [GRCh38]
Chr20:35579936 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.348+14A>C single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV002173155] Chr20:36941025 [GRCh38]
Chr20:35569428 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.1608+9T>C single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV002212258] Chr20:36898431 [GRCh38]
Chr20:35526834 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.208+16G>A single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV002094413] Chr20:36951420 [GRCh38]
Chr20:35579823 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.348+17T>G single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV002173162] Chr20:36941022 [GRCh38]
Chr20:35569425 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.1431A>C (p.Pro477=) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV002172131] Chr20:36904229 [GRCh38]
Chr20:35532632 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.168C>T (p.Arg56=) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV002194138] Chr20:36951476 [GRCh38]
Chr20:35579879 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.21G>A (p.Glu7=) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV002207832] Chr20:36951623 [GRCh38]
Chr20:35580026 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.209-7T>C single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV002078094] Chr20:36946811 [GRCh38]
Chr20:35575214 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.810A>G (p.Glu270=) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV002084751] Chr20:36919406 [GRCh38]
Chr20:35547809 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.99C>A (p.Ser33=) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV002193259] Chr20:36951545 [GRCh38]
Chr20:35579948 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.1344T>C (p.Ile448=) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV002079557] Chr20:36905430 [GRCh38]
Chr20:35533833 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.1503+16A>G single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV002193085] Chr20:36904141 [GRCh38]
Chr20:35532544 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.1122T>C (p.Tyr374=) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV002152036] Chr20:36912493 [GRCh38]
Chr20:35540896 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.129G>A (p.Lys43=) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV002172437] Chr20:36951515 [GRCh38]
Chr20:35579918 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.1695A>C (p.Ala565=) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV002193994] Chr20:36897873 [GRCh38]
Chr20:35526276 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.1674C>T (p.Asp558=) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV002090420] Chr20:36897894 [GRCh38]
Chr20:35526297 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.1154+13A>G single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV002195282] Chr20:36912448 [GRCh38]
Chr20:35540851 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.953+7A>G single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV002117549] Chr20:36916942 [GRCh38]
Chr20:35545345 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.1271-13A>G single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV002197973] Chr20:36905516 [GRCh38]
Chr20:35533919 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.144G>A (p.Glu48=) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV002137791]|Aicardi-Goutieres syndrome 5 [RCV002494425] Chr20:36951500 [GRCh38]
Chr20:35579903 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.228A>G (p.Ala76=) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV002100614] Chr20:36946785 [GRCh38]
Chr20:35575188 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.1411-18G>A single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV002138232] Chr20:36904267 [GRCh38]
Chr20:35532670 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.690A>G (p.Lys230=) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV002217693] Chr20:36927188 [GRCh38]
Chr20:35555591 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.510-18del deletion Aicardi-Goutieres syndrome 5 [RCV002161486] Chr20:36930893 [GRCh38]
Chr20:35559296 [GRCh37]
Chr20:20q11.23		 benign
NM_015474.4(SAMHD1):c.48T>C (p.Asp16=) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV002160312] Chr20:36951596 [GRCh38]
Chr20:35579999 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.510-20T>G single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV002164204] Chr20:36930895 [GRCh38]
Chr20:35559298 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.1749T>C (p.Asp583=) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV002217690] Chr20:36893064 [GRCh38]
Chr20:35521467 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.1410+8dup duplication Aicardi-Goutieres syndrome 5 [RCV002164370] Chr20:36905355..36905356 [GRCh38]
Chr20:35533758..35533759 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.1431A>G (p.Pro477=) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV002164436] Chr20:36904229 [GRCh38]
Chr20:35532632 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.626-8T>C single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV002216592] Chr20:36927260 [GRCh38]
Chr20:35555663 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.204C>T (p.Ile68=) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV002101816] Chr20:36951440 [GRCh38]
Chr20:35579843 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.1411-7T>C single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV002081748] Chr20:36904256 [GRCh38]
Chr20:35532659 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.1747-17dup duplication Aicardi-Goutieres syndrome 5 [RCV002177640] Chr20:36893082..36893083 [GRCh38]
Chr20:35521485..35521486 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.393C>T (p.Leu131=) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV002137903] Chr20:36935145 [GRCh38]
Chr20:35563548 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.12C>G (p.Ala4=) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV002136109] Chr20:36951632 [GRCh38]
Chr20:35580035 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.1746+18C>T single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV002159780] Chr20:36897804 [GRCh38]
Chr20:35526207 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.1359A>G (p.Leu453=) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV002181240] Chr20:36905415 [GRCh38]
Chr20:35533818 [GRCh37]
Chr20:20q11.23		 likely benign
NC_000020.10:g.(35575208_35579838)_(35580247_?)del deletion Aicardi Goutieres syndrome [RCV002223092] Chr20:35579838..35580247 [GRCh37]
Chr20:20q11.23		 pathogenic
NM_015474.4(SAMHD1):c.697-5C>T single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV002177180] Chr20:36919524 [GRCh38]
Chr20:35547927 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.1185C>T (p.Asp395=) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV002159549] Chr20:36911303 [GRCh38]
Chr20:35539706 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.513G>C (p.Val171=) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV002203003] Chr20:36930872 [GRCh38]
Chr20:35559275 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.477A>G (p.Gly159=) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV002177594] Chr20:36935061 [GRCh38]
Chr20:35563464 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.954-24CT[2] microsatellite Aicardi-Goutieres syndrome 5 [RCV002082438] Chr20:36916849..36916850 [GRCh38]
Chr20:35545252..35545253 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.953+7A>C single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV002178082] Chr20:36916942 [GRCh38]
Chr20:35545345 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.588T>A (p.Val196=) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV002219756] Chr20:36930797 [GRCh38]
Chr20:35559200 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.510-13T>G single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV002184182] Chr20:36930888 [GRCh38]
Chr20:35559291 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.316C>A (p.Arg106=) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV002102886] Chr20:36941071 [GRCh38]
Chr20:35569474 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.1230T>C (p.Ser410=) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV002218181] Chr20:36911258 [GRCh38]
Chr20:35539661 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.507A>G (p.Leu169=) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV002203071] Chr20:36935031 [GRCh38]
Chr20:35563434 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.1312T>C (p.Leu438=) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV002139078] Chr20:36905462 [GRCh38]
Chr20:35533865 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.1155-16G>A single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV003110406] Chr20:36911349 [GRCh38]
Chr20:35539752 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.1543A>G (p.Ile515Val) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV003110430] Chr20:36898505 [GRCh38]
Chr20:35526908 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_015474.4(SAMHD1):c.245A>G (p.Asp82Gly) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV003110566] Chr20:36946768 [GRCh38]
Chr20:35575171 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_015474.4(SAMHD1):c.410A>G (p.Asp137Gly) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV003112423] Chr20:36935128 [GRCh38]
Chr20:35563531 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_015474.4(SAMHD1):c.63C>A (p.Thr21=) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV003118256] Chr20:36951581 [GRCh38]
Chr20:35579984 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.1609-15C>T single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV003116224] Chr20:36897974 [GRCh38]
Chr20:35526377 [GRCh37]
Chr20:20q11.23		 likely benign
NC_000020.10:g.(?_35547747)_(35547942_?)del deletion Aicardi-Goutieres syndrome 5 [RCV003119597] Chr20:35547747..35547942 [GRCh37]
Chr20:20q11.23		 uncertain significance
NC_000020.10:g.(?_35545115)_(35563602_?)del deletion Aicardi-Goutieres syndrome 5 [RCV003119598] Chr20:35545115..35563602 [GRCh37]
Chr20:20q11.23		 pathogenic
NC_000020.10:g.(?_35555575)_(35559288_?)del deletion Aicardi-Goutieres syndrome 5 [RCV003119599] Chr20:35555575..35559288 [GRCh37]
Chr20:20q11.23		 pathogenic
NC_000020.10:g.(?_35569432)_(35569524_?)dup duplication Aicardi-Goutieres syndrome 5 [RCV003119600] Chr20:35569432..35569524 [GRCh37]
Chr20:20q11.23		 likely pathogenic
NC_000020.10:g.(?_35539601)_(35580066_?)dup duplication Aicardi-Goutieres syndrome 5 [RCV003119601] Chr20:35539601..35580066 [GRCh37]
Chr20:20q11.23		 uncertain significance
NC_000020.10:g.(?_35569422)_(36500415_?)dup duplication Aicardi-Goutieres syndrome 5 [RCV003119602]|Congenital disorder of glycosylation [RCV004579604] Chr20:35569422..36500415 [GRCh37]
Chr20:20q11.23		 uncertain significance
NC_000020.10:g.(?_35559143)_(35575227_?)dup duplication Aicardi-Goutieres syndrome 5 [RCV003119603] Chr20:35559143..35575227 [GRCh37]
Chr20:20q11.23		 uncertain significance
NC_000020.10:g.(?_35559143)_(35563612_?)dup duplication Aicardi-Goutieres syndrome 5 [RCV003119604] Chr20:35559143..35563612 [GRCh37]
Chr20:20q11.23		 likely pathogenic
NC_000020.10:g.(?_35563412)_(35563612_?)del deletion Aicardi-Goutieres syndrome 5 [RCV003119605] Chr20:35563412..35563612 [GRCh37]
Chr20:20q11.23		 pathogenic
NC_000020.10:g.(?_35521335)_(35540975_?)dup duplication Aicardi-Goutieres syndrome 5 [RCV003119606] Chr20:35521335..35540975 [GRCh37]
Chr20:20q11.23		 uncertain significance
NC_000020.10:g.(?_35521335)_(35526967_?)dup duplication Aicardi-Goutieres syndrome 5 [RCV003119607] Chr20:35521335..35526967 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_015474.4(SAMHD1):c.276-11T>G single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV003118865] Chr20:36941122 [GRCh38]
Chr20:35569525 [GRCh37]
Chr20:20q11.23		 likely benign
NC_000020.10:g.(35533907_35539620)_(35547923_35555584)dup duplication Aicardi Goutieres syndrome [RCV002271783] Chr20:35539620..35547923 [GRCh37]
Chr20:20q11.23		 likely pathogenic
NM_015474.4(SAMHD1):c.773G>T (p.Gly258Val) single nucleotide variant See cases [RCV002252958] Chr20:36919443 [GRCh38]
Chr20:35547846 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_015474.4(SAMHD1):c.1436del (p.Glu479fs) deletion Aicardi Goutieres syndrome [RCV002282901]|Aicardi-Goutieres syndrome 5 [RCV003502616] Chr20:36904224 [GRCh38]
Chr20:35532627 [GRCh37]
Chr20:20q11.23		 pathogenic|likely pathogenic
NM_015474.4(SAMHD1):c.808G>A (p.Glu270Lys) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV002471403]|not provided [RCV003138283] Chr20:36919408 [GRCh38]
Chr20:35547811 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_015474.4(SAMHD1):c.308A>G (p.Tyr103Cys) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV002304590] Chr20:36941079 [GRCh38]
Chr20:35569482 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_015474.4(SAMHD1):c.1475A>C (p.Lys492Thr) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV002296483] Chr20:36904185 [GRCh38]
Chr20:35532588 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_015474.4(SAMHD1):c.817G>T (p.Val273Leu) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV002751416] Chr20:36919399 [GRCh38]
Chr20:35547802 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_015474.4(SAMHD1):c.349-14A>T single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV002750884] Chr20:36935203 [GRCh38]
Chr20:35563606 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.1442C>T (p.Ala481Val) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV002994973] Chr20:36904218 [GRCh38]
Chr20:35532621 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_015474.4(SAMHD1):c.63C>G (p.Thr21=) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV002994802] Chr20:36951581 [GRCh38]
Chr20:35579984 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.1243G>A (p.Asp415Asn) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV002971181] Chr20:36911245 [GRCh38]
Chr20:35539648 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_015474.4(SAMHD1):c.491G>A (p.Arg164Gln) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV002775680] Chr20:36935047 [GRCh38]
Chr20:35563450 [GRCh37]
Chr20:20q11.23		 uncertain significance
GRCh37/hg19 20q11.21-11.23(chr20:29652122-35603726)x3 copy number gain not provided [RCV002475651] Chr20:29652122..35603726 [GRCh37]
Chr20:20q11.21-11.23		 likely pathogenic
NM_015474.4(SAMHD1):c.998G>T (p.Arg333Leu) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV002685853] Chr20:36916786 [GRCh38]
Chr20:35545189 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_015474.4(SAMHD1):c.104G>T (p.Gly35Val) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV002908959]|Inborn genetic diseases [RCV003167923] Chr20:36951540 [GRCh38]
Chr20:35579943 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_015474.4(SAMHD1):c.626-15G>A single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV002756027] Chr20:36927267 [GRCh38]
Chr20:35555670 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.953+12A>G single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV002636107] Chr20:36916937 [GRCh38]
Chr20:35545340 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.957C>G (p.Asp319Glu) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV002904567] Chr20:36916827 [GRCh38]
Chr20:35545230 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_015474.4(SAMHD1):c.1609-2del deletion Aicardi-Goutieres syndrome 5 [RCV003011931] Chr20:36897961 [GRCh38]
Chr20:35526364 [GRCh37]
Chr20:20q11.23		 benign
NM_015474.4(SAMHD1):c.132A>G (p.Thr44=) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV003033440] Chr20:36951512 [GRCh38]
Chr20:35579915 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.501T>C (p.His167=) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV002751592] Chr20:36935037 [GRCh38]
Chr20:35563440 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.1457A>G (p.Lys486Arg) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV003111713]|Inborn genetic diseases [RCV002905979] Chr20:36904203 [GRCh38]
Chr20:35532606 [GRCh37]
Chr20:20q11.23		 likely benign|uncertain significance
NM_015474.4(SAMHD1):c.631G>A (p.Gly211Arg) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV003074707] Chr20:36927247 [GRCh38]
Chr20:35555650 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_015474.4(SAMHD1):c.955G>A (p.Asp319Asn) single nucleotide variant Inborn genetic diseases [RCV002879521] Chr20:36916829 [GRCh38]
Chr20:35545232 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_015474.4(SAMHD1):c.1379C>T (p.Thr460Met) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV003073948]|Inborn genetic diseases [RCV003073949] Chr20:36905395 [GRCh38]
Chr20:35533798 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_015474.4(SAMHD1):c.381G>A (p.Glu127=) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV002750960] Chr20:36935157 [GRCh38]
Chr20:35563560 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.1825C>T (p.Arg609Cys) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV003074423] Chr20:36892988 [GRCh38]
Chr20:35521391 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_015474.4(SAMHD1):c.276-16C>T single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV002819774] Chr20:36941127 [GRCh38]
Chr20:35569530 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.899T>C (p.Ile300Thr) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV003017170] Chr20:36917003 [GRCh38]
Chr20:35545406 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_015474.4(SAMHD1):c.211A>T (p.Asn71Tyr) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV002838436] Chr20:36946802 [GRCh38]
Chr20:35575205 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_015474.4(SAMHD1):c.1758T>C (p.Val586=) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV002863675] Chr20:36893055 [GRCh38]
Chr20:35521458 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.447G>A (p.Gln149=) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV002848277] Chr20:36935091 [GRCh38]
Chr20:35563494 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.1618C>T (p.Leu540Phe) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV003021778] Chr20:36897950 [GRCh38]
Chr20:35526353 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_015474.4(SAMHD1):c.1608+8C>G single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV002735261] Chr20:36898432 [GRCh38]
Chr20:35526835 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.774T>C (p.Gly258=) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV002622867] Chr20:36919442 [GRCh38]
Chr20:35547845 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.1827C>G (p.Arg609=) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV002696137] Chr20:36892986 [GRCh38]
Chr20:35521389 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.124_126del (p.Tyr42del) deletion Aicardi-Goutieres syndrome 5 [RCV003037856] Chr20:36951518..36951520 [GRCh38]
Chr20:35579921..35579923 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_015474.4(SAMHD1):c.1219dup (p.Tyr407fs) duplication Aicardi-Goutieres syndrome 5 [RCV003053578] Chr20:36911268..36911269 [GRCh38]
Chr20:35539671..35539672 [GRCh37]
Chr20:20q11.23		 pathogenic
NM_015474.4(SAMHD1):c.1271-1G>C single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV002914469] Chr20:36905504 [GRCh38]
Chr20:35533907 [GRCh37]
Chr20:20q11.23		 likely pathogenic
NM_015474.4(SAMHD1):c.49G>A (p.Asp17Asn) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV002780824] Chr20:36951595 [GRCh38]
Chr20:35579998 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_015474.4(SAMHD1):c.1437G>A (p.Glu479=) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV002889646] Chr20:36904223 [GRCh38]
Chr20:35532626 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.335T>C (p.Val112Ala) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV003022143] Chr20:36941052 [GRCh38]
Chr20:35569455 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_015474.4(SAMHD1):c.1141A>G (p.Ile381Val) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV002736206] Chr20:36912474 [GRCh38]
Chr20:35540877 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_015474.4(SAMHD1):c.1154+4A>T single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV002796962] Chr20:36912457 [GRCh38]
Chr20:35540860 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_015474.4(SAMHD1):c.351A>G (p.Val117=) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV003055618] Chr20:36935187 [GRCh38]
Chr20:35563590 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.1512_1513del (p.Met505fs) deletion Aicardi-Goutieres syndrome 5 [RCV003021649] Chr20:36898535..36898536 [GRCh38]
Chr20:35526938..35526939 [GRCh37]
Chr20:20q11.23		 pathogenic
NM_015474.4(SAMHD1):c.510-19_510-18del deletion Aicardi-Goutieres syndrome 5 [RCV003077272] Chr20:36930893..36930894 [GRCh38]
Chr20:35559296..35559297 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.349-11_349-10del deletion Aicardi-Goutieres syndrome 5 [RCV002796011] Chr20:36935199..36935200 [GRCh38]
Chr20:35563602..35563603 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.119C>T (p.Pro40Leu) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV002976066] Chr20:36951525 [GRCh38]
Chr20:35579928 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_015474.4(SAMHD1):c.1593G>T (p.Arg531Ser) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV002705472] Chr20:36898455 [GRCh38]
Chr20:35526858 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_015474.4(SAMHD1):c.1537A>C (p.Asn513His) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV003054105] Chr20:36898511 [GRCh38]
Chr20:35526914 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_015474.4(SAMHD1):c.815T>C (p.Ile272Thr) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV002638958] Chr20:36919401 [GRCh38]
Chr20:35547804 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_015474.4(SAMHD1):c.1464G>A (p.Leu488=) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV003054005] Chr20:36904196 [GRCh38]
Chr20:35532599 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.253C>T (p.Arg85Cys) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV002949082]|Inborn genetic diseases [RCV004068084] Chr20:36946760 [GRCh38]
Chr20:35575163 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_015474.4(SAMHD1):c.1746+7G>A single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV002844034] Chr20:36897815 [GRCh38]
Chr20:35526218 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.793A>G (p.Ile265Val) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV002846453] Chr20:36919423 [GRCh38]
Chr20:35547826 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_015474.4(SAMHD1):c.1782A>G (p.Gln594=) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV002909659] Chr20:36893031 [GRCh38]
Chr20:35521434 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.1746+4G>A single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV002780329] Chr20:36897818 [GRCh38]
Chr20:35526221 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_015474.4(SAMHD1):c.1229C>T (p.Ser410Phe) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV002795689]|not provided [RCV004593060] Chr20:36911259 [GRCh38]
Chr20:35539662 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_015474.4(SAMHD1):c.1246A>G (p.Met416Val) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV002706253] Chr20:36911242 [GRCh38]
Chr20:35539645 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_015474.4(SAMHD1):c.88G>T (p.Ala30Ser) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV002923823] Chr20:36951556 [GRCh38]
Chr20:35579959 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_015474.4(SAMHD1):c.75C>G (p.Thr25=) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV003019261] Chr20:36951569 [GRCh38]
Chr20:35579972 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.852+14C>T single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV003037715] Chr20:36919350 [GRCh38]
Chr20:35547753 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.1410+4A>C single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV002824719] Chr20:36905360 [GRCh38]
Chr20:35533763 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_015474.4(SAMHD1):c.1681_1682del (p.Ser561fs) microsatellite Aicardi-Goutieres syndrome 5 [RCV002638544] Chr20:36897886..36897887 [GRCh38]
Chr20:35526289..35526290 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_015474.4(SAMHD1):c.659G>A (p.Arg220Gln) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV002637825] Chr20:36927219 [GRCh38]
Chr20:35555622 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_015474.4(SAMHD1):c.273A>G (p.Val91=) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV002820222] Chr20:36946740 [GRCh38]
Chr20:35575143 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.18C>A (p.Ser6=) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV002952975] Chr20:36951626 [GRCh38]
Chr20:35580029 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.274A>G (p.Ser92Gly) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV002944288]|Inborn genetic diseases [RCV002976159] Chr20:36946739 [GRCh38]
Chr20:35575142 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_015474.4(SAMHD1):c.457G>A (p.Gly153Ser) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV003000120] Chr20:36935081 [GRCh38]
Chr20:35563484 [GRCh37]
Chr20:20q11.23		 uncertain significance
NC_000020.11:g.36904246CCT[1] microsatellite Aicardi-Goutieres syndrome 5 [RCV002639099] Chr20:36904245..36904247 [GRCh38]
Chr20:35532648..35532650 [GRCh37]
Chr20:20q11.23		 uncertain significance
NC_000020.11:g.36935169_36935190dup duplication Aicardi-Goutieres syndrome 5 [RCV002889278] Chr20:36935166..36935167 [GRCh38]
Chr20:35563569..35563570 [GRCh37]
Chr20:20q11.23		 pathogenic
NM_015474.4(SAMHD1):c.1557C>T (p.Ser519=) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV002659375] Chr20:36898491 [GRCh38]
Chr20:35526894 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.1711C>T (p.Gln571Ter) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV002705812] Chr20:36897857 [GRCh38]
Chr20:35526260 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_015474.4(SAMHD1):c.1503+9T>A single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV002780672] Chr20:36904148 [GRCh38]
Chr20:35532551 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.275+7A>G single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV002846514] Chr20:36946731 [GRCh38]
Chr20:35575134 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.903A>G (p.Val301=) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV003038405] Chr20:36916999 [GRCh38]
Chr20:35545402 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.1618del (p.Leu540fs) deletion Aicardi-Goutieres syndrome 5 [RCV003021567] Chr20:36897950 [GRCh38]
Chr20:35526353 [GRCh37]
Chr20:20q11.23		 pathogenic
NM_015474.4(SAMHD1):c.1270G>C (p.Asp424His) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV002590811] Chr20:36911218 [GRCh38]
Chr20:35539621 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_015474.4(SAMHD1):c.1329G>A (p.Glu443=) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV003026110] Chr20:36905445 [GRCh38]
Chr20:35533848 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.682G>C (p.Glu228Gln) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV002894967] Chr20:36927196 [GRCh38]
Chr20:35555599 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_015474.4(SAMHD1):c.696G>A (p.Thr232=) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV002644316] Chr20:36927182 [GRCh38]
Chr20:35555585 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_015474.4(SAMHD1):c.1163A>G (p.Asp388Gly) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV002595953] Chr20:36911325 [GRCh38]
Chr20:35539728 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_015474.4(SAMHD1):c.846T>C (p.Asp282=) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV002871957] Chr20:36919370 [GRCh38]
Chr20:35547773 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.1265T>A (p.Leu422Gln) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV003041385] Chr20:36911223 [GRCh38]
Chr20:35539626 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_015474.4(SAMHD1):c.987del (p.Phe329fs) deletion Aicardi-Goutieres syndrome 5 [RCV003041386] Chr20:36916797 [GRCh38]
Chr20:35545200 [GRCh37]
Chr20:20q11.23		 pathogenic
NM_015474.4(SAMHD1):c.193C>T (p.Leu65=) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV002828515] Chr20:36951451 [GRCh38]
Chr20:35579854 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.1746+9C>A single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV003056497] Chr20:36897813 [GRCh38]
Chr20:35526216 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.689A>G (p.Lys230Arg) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV002828671] Chr20:36927189 [GRCh38]
Chr20:35555592 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_015474.4(SAMHD1):c.1410+15A>G single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV002786574] Chr20:36905349 [GRCh38]
Chr20:35533752 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.276-15C>G single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV002642671] Chr20:36941126 [GRCh38]
Chr20:35569529 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.509+9G>A single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV003022206] Chr20:36935020 [GRCh38]
Chr20:35563423 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.1566dup (p.Lys523Ter) duplication Aicardi-Goutieres syndrome 5 [RCV002928779] Chr20:36898481..36898482 [GRCh38]
Chr20:35526884..35526885 [GRCh37]
Chr20:20q11.23		 pathogenic
NM_015474.4(SAMHD1):c.330C>T (p.Ile110=) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV002710228] Chr20:36941057 [GRCh38]
Chr20:35569460 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.1030G>A (p.Asp344Asn) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV003083447] Chr20:36916754 [GRCh38]
Chr20:35545157 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_015474.4(SAMHD1):c.414A>G (p.Thr138=) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV003057227] Chr20:36935124 [GRCh38]
Chr20:35563527 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.279C>T (p.Ser93=) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV002919162] Chr20:36941108 [GRCh38]
Chr20:35569511 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.852+16G>A single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV002890344] Chr20:36919348 [GRCh38]
Chr20:35547751 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.616C>T (p.His206Tyr) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV003059538] Chr20:36930769 [GRCh38]
Chr20:35559172 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_015474.4(SAMHD1):c.1179A>G (p.Ala393=) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV003024796] Chr20:36911309 [GRCh38]
Chr20:35539712 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.1877T>A (p.Met626Lys) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV002766909] Chr20:36892936 [GRCh38]
Chr20:35521339 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_015474.4(SAMHD1):c.697-2A>G single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV002663454] Chr20:36919521 [GRCh38]
Chr20:35547924 [GRCh37]
Chr20:20q11.23		 likely pathogenic
NM_015474.4(SAMHD1):c.78T>C (p.Pro26=) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV002890981] Chr20:36951566 [GRCh38]
Chr20:35579969 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.1739A>T (p.Lys580Met) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV002625638] Chr20:36897829 [GRCh38]
Chr20:35526232 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_015474.4(SAMHD1):c.951C>T (p.Ala317=) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV003025193] Chr20:36916951 [GRCh38]
Chr20:35545354 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_015474.4(SAMHD1):c.1271-2A>C single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV002914843] Chr20:36905505 [GRCh38]
Chr20:35533908 [GRCh37]
Chr20:20q11.23		 likely pathogenic
NM_015474.4(SAMHD1):c.1831C>G (p.Arg611Gly) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV002918602] Chr20:36892982 [GRCh38]
Chr20:35521385 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_015474.4(SAMHD1):c.1271-3C>T single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV002664027] Chr20:36905506 [GRCh38]
Chr20:35533909 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_015474.4(SAMHD1):c.82G>A (p.Ala28Thr) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV003085282] Chr20:36951562 [GRCh38]
Chr20:35579965 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_015474.4(SAMHD1):c.1012G>T (p.Ala338Ser) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV002958445] Chr20:36916772 [GRCh38]
Chr20:35545175 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_015474.4(SAMHD1):c.1580A>G (p.Asn527Ser) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV003023028] Chr20:36898468 [GRCh38]
Chr20:35526871 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_015474.4(SAMHD1):c.289A>G (p.Arg97Gly) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV002805274] Chr20:36941098 [GRCh38]
Chr20:35569501 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_015474.4(SAMHD1):c.57G>C (p.Pro19=) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV003056287] Chr20:36951587 [GRCh38]
Chr20:35579990 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.599A>G (p.Gln200Arg) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV002745376] Chr20:36930786 [GRCh38]
Chr20:35559189 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_015474.4(SAMHD1):c.349-6_354del deletion Inborn genetic diseases [RCV002875212] Chr20:36935184..36935195 [GRCh38]
Chr20:35563587..35563598 [GRCh37]
Chr20:20q11.23		 likely pathogenic
NM_015474.4(SAMHD1):c.1433_1434dup (p.Glu479fs) duplication Aicardi-Goutieres syndrome 5 [RCV002875869] Chr20:36904225..36904226 [GRCh38]
Chr20:35532628..35532629 [GRCh37]
Chr20:20q11.23		 pathogenic
NM_015474.4(SAMHD1):c.1659T>C (p.Tyr553=) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV002786245] Chr20:36897909 [GRCh38]
Chr20:35526312 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.147G>C (p.Gln49His) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV003089884] Chr20:36951497 [GRCh38]
Chr20:35579900 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_015474.4(SAMHD1):c.1503+3A>C single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV003047321] Chr20:36904154 [GRCh38]
Chr20:35532557 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_015474.4(SAMHD1):c.1143T>C (p.Ile381=) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV002676356] Chr20:36912472 [GRCh38]
Chr20:35540875 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.1661G>A (p.Cys554Tyr) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV003009802] Chr20:36897907 [GRCh38]
Chr20:35526310 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_015474.4(SAMHD1):c.80C>T (p.Ser27Phe) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV003089961] Chr20:36951564 [GRCh38]
Chr20:35579967 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_015474.4(SAMHD1):c.509+11A>G single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV002857339] Chr20:36935018 [GRCh38]
Chr20:35563421 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.1648A>T (p.Ile550Phe) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV002810876] Chr20:36897920 [GRCh38]
Chr20:35526323 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_015474.4(SAMHD1):c.427C>A (p.Arg143Ser) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV003028285] Chr20:36935111 [GRCh38]
Chr20:35563514 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_015474.4(SAMHD1):c.625+19C>T single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV003090325] Chr20:36930741 [GRCh38]
Chr20:35559144 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.139C>G (p.Pro47Ala) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV002629561] Chr20:36951505 [GRCh38]
Chr20:35579908 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_015474.4(SAMHD1):c.555dup (p.Gln186fs) duplication Aicardi-Goutieres syndrome 5 [RCV003043708] Chr20:36930829..36930830 [GRCh38]
Chr20:35559232..35559233 [GRCh37]
Chr20:20q11.23		 pathogenic
NM_015474.4(SAMHD1):c.1411-17A>G single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV003046171] Chr20:36904266 [GRCh38]
Chr20:35532669 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.1802G>A (p.Ser601Asn) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV002832932] Chr20:36893011 [GRCh38]
Chr20:35521414 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_015474.4(SAMHD1):c.1216A>C (p.Lys406Gln) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV002810333] Chr20:36911272 [GRCh38]
Chr20:35539675 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_015474.4(SAMHD1):c.1104_1111dup (p.Arg371fs) duplication Aicardi-Goutieres syndrome 5 [RCV002856939] Chr20:36912503..36912504 [GRCh38]
Chr20:35540906..35540907 [GRCh37]
Chr20:20q11.23		 pathogenic
NM_015474.4(SAMHD1):c.1445G>C (p.Ser482Thr) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV003086787] Chr20:36904215 [GRCh38]
Chr20:35532618 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_015474.4(SAMHD1):c.44G>A (p.Cys15Tyr) single nucleotide variant Inborn genetic diseases [RCV002747127] Chr20:36951600 [GRCh38]
Chr20:35580003 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_015474.4(SAMHD1):c.493T>C (p.Phe165Leu) single nucleotide variant Inborn genetic diseases [RCV002719367] Chr20:36935045 [GRCh38]
Chr20:35563448 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_015474.4(SAMHD1):c.879C>T (p.Asn293=) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV003028761] Chr20:36917023 [GRCh38]
Chr20:35545426 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.1552G>A (p.Val518Ile) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV003091231] Chr20:36898496 [GRCh38]
Chr20:35526899 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_015474.4(SAMHD1):c.276-8A>G single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV002770063] Chr20:36941119 [GRCh38]
Chr20:35569522 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.766C>A (p.Gln256Lys) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV003090324] Chr20:36919450 [GRCh38]
Chr20:35547853 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_015474.4(SAMHD1):c.1872C>T (p.Asp624=) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV002834936] Chr20:36892941 [GRCh38]
Chr20:35521344 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.687G>T (p.Val229=) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV002716521] Chr20:36927191 [GRCh38]
Chr20:35555594 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.1130A>G (p.Lys377Arg) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV002600126] Chr20:36912485 [GRCh38]
Chr20:35540888 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_015474.4(SAMHD1):c.169G>C (p.Gly57Arg) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV003087440] Chr20:36951475 [GRCh38]
Chr20:35579878 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_015474.4(SAMHD1):c.58A>C (p.Arg20=) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV002811306] Chr20:36951586 [GRCh38]
Chr20:35579989 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.626G>A (p.Gly209Asp) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV003048332] Chr20:36927252 [GRCh38]
Chr20:35555655 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_015474.4(SAMHD1):c.883del (p.Ser295fs) deletion Aicardi-Goutieres syndrome 5 [RCV003044059] Chr20:36917019 [GRCh38]
Chr20:35545422 [GRCh37]
Chr20:20q11.23		 pathogenic
NM_015474.4(SAMHD1):c.108G>A (p.Leu36=) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV002898898] Chr20:36951536 [GRCh38]
Chr20:35579939 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.1547A>G (p.Asp516Gly) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV002715687] Chr20:36898501 [GRCh38]
Chr20:35526904 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_015474.4(SAMHD1):c.1447G>A (p.Ala483Thr) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV002671441] Chr20:36904213 [GRCh38]
Chr20:35532616 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_015474.4(SAMHD1):c.771T>C (p.Tyr257=) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV002676158] Chr20:36919445 [GRCh38]
Chr20:35547848 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.132A>T (p.Thr44=) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV003030200] Chr20:36951512 [GRCh38]
Chr20:35579915 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.81C>G (p.Ser27=) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV003030609] Chr20:36951563 [GRCh38]
Chr20:35579966 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.1062+8G>A single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV002856883] Chr20:36916714 [GRCh38]
Chr20:35545117 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.1401_1406del (p.466IK[1]) deletion Aicardi-Goutieres syndrome 5 [RCV003063336] Chr20:36905368..36905373 [GRCh38]
Chr20:35533771..35533776 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_015474.4(SAMHD1):c.1465C>T (p.Leu489=) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV003065171] Chr20:36904195 [GRCh38]
Chr20:35532598 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.1876A>G (p.Met626Val) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV003092707] Chr20:36892937 [GRCh38]
Chr20:35521340 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_015474.4(SAMHD1):c.548G>C (p.Gly183Ala) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV003066710] Chr20:36930837 [GRCh38]
Chr20:35559240 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_015474.4(SAMHD1):c.284G>T (p.Gly95Val) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV003051299] Chr20:36941103 [GRCh38]
Chr20:35569506 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_015474.4(SAMHD1):c.1020C>T (p.Val340=) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV002584137] Chr20:36916764 [GRCh38]
Chr20:35545167 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.209-9C>G single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV002814638] Chr20:36946813 [GRCh38]
Chr20:35575216 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.349G>A (p.Val117Ile) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV002634177] Chr20:36935189 [GRCh38]
Chr20:35563592 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_015474.4(SAMHD1):c.1679A>G (p.Lys560Arg) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV002604501] Chr20:36897889 [GRCh38]
Chr20:35526292 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_015474.4(SAMHD1):c.1024G>A (p.Glu342Lys) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV002633759]|Inborn genetic diseases [RCV002633758] Chr20:36916760 [GRCh38]
Chr20:35545163 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_015474.4(SAMHD1):c.715ATG[1] (p.Met240del) microsatellite Aicardi-Goutieres syndrome 5 [RCV002602989] Chr20:36919496..36919498 [GRCh38]
Chr20:35547899..35547901 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_015474.4(SAMHD1):c.1410+15A>C single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV002680780] Chr20:36905349 [GRCh38]
Chr20:35533752 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.1026A>G (p.Glu342=) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV003093512] Chr20:36916758 [GRCh38]
Chr20:35545161 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.1536G>T (p.Lys512Asn) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV003069414] Chr20:36898512 [GRCh38]
Chr20:35526915 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_015474.4(SAMHD1):c.1841C>A (p.Ser614Tyr) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV003093733] Chr20:36892972 [GRCh38]
Chr20:35521375 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_015474.4(SAMHD1):c.1652G>A (p.Arg551Gln) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV002605699] Chr20:36897916 [GRCh38]
Chr20:35526319 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_015474.4(SAMHD1):c.1720G>A (p.Ala574Thr) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV002609790] Chr20:36897848 [GRCh38]
Chr20:35526251 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_015474.4(SAMHD1):c.276-12T>C single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV003067232] Chr20:36941123 [GRCh38]
Chr20:35569526 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.695C>T (p.Thr232Met) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV002610389]|SAMHD1-related disorder [RCV004550414] Chr20:36927183 [GRCh38]
Chr20:35555586 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_015474.4(SAMHD1):c.888C>T (p.Phe296=) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV002588149] Chr20:36917014 [GRCh38]
Chr20:35545417 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_015474.4(SAMHD1):c.1740G>A (p.Lys580=) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV002607003] Chr20:36897828 [GRCh38]
Chr20:35526231 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.1443C>T (p.Ala481=) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV002942245] Chr20:36904217 [GRCh38]
Chr20:35532620 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.1411-19G>A single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV003072399] Chr20:36904268 [GRCh38]
Chr20:35532671 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.343A>C (p.Met115Leu) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV002652992] Chr20:36941044 [GRCh38]
Chr20:35569447 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_015474.4(SAMHD1):c.396C>G (p.Leu132=) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV002603379] Chr20:36935142 [GRCh38]
Chr20:35563545 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.415C>T (p.Pro139Ser) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV002585270]|not provided [RCV003435878] Chr20:36935123 [GRCh38]
Chr20:35563526 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_015474.4(SAMHD1):c.577G>T (p.Glu193Ter) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV002942877] Chr20:36930808 [GRCh38]
Chr20:35559211 [GRCh37]
Chr20:20q11.23		 pathogenic
NM_015474.4(SAMHD1):c.1632A>C (p.Lys544Asn) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV003070147] Chr20:36897936 [GRCh38]
Chr20:35526339 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_015474.4(SAMHD1):c.397G>A (p.Val133Ile) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV003071052] Chr20:36935141 [GRCh38]
Chr20:35563544 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_015474.4(SAMHD1):c.869G>A (p.Arg290His) single nucleotide variant Aicardi Goutieres syndrome [RCV003226811] Chr20:36917033 [GRCh38]
Chr20:35545436 [GRCh37]
Chr20:20q11.23		 likely pathogenic
NM_015474.4(SAMHD1):c.736A>G (p.Asn246Asp) single nucleotide variant not provided [RCV003142741] Chr20:36919480 [GRCh38]
Chr20:35547883 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_015474.4(SAMHD1):c.1322_1325del (p.Ala441fs) deletion Aicardi Goutieres syndrome [RCV003226812] Chr20:36905449..36905452 [GRCh38]
Chr20:35533852..35533855 [GRCh37]
Chr20:20q11.23		 likely pathogenic
NM_015474.4(SAMHD1):c.968T>C (p.Leu323Pro) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV003225620] Chr20:36916816 [GRCh38]
Chr20:35545219 [GRCh37]
Chr20:20q11.23		 likely pathogenic
NM_015474.4(SAMHD1):c.510-14T>C single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV003502777] Chr20:36930889 [GRCh38]
Chr20:35559292 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.625+2T>C single nucleotide variant SAMHD1-related disorder [RCV003335964] Chr20:36930758 [GRCh38]
Chr20:35559161 [GRCh37]
Chr20:20q11.23		 likely pathogenic
NM_015474.4(SAMHD1):c.465T>C (p.Tyr155=) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV003503290] Chr20:36935073 [GRCh38]
Chr20:35563476 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.1211del (p.Gly404fs) deletion Aicardi-Goutieres syndrome 5 [RCV003503754] Chr20:36911277 [GRCh38]
Chr20:35539680 [GRCh37]
Chr20:20q11.23		 pathogenic
NM_015474.4(SAMHD1):c.1746+8G>A single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV003503219] Chr20:36897814 [GRCh38]
Chr20:35526217 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.1422A>G (p.Glu474=) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV003503366] Chr20:36904238 [GRCh38]
Chr20:35532641 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.588T>C (p.Val196=) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV003503294] Chr20:36930797 [GRCh38]
Chr20:35559200 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.741T>C (p.Ser247=) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV003503331] Chr20:36919475 [GRCh38]
Chr20:35547878 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.348+13G>A single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV003503944] Chr20:36941026 [GRCh38]
Chr20:35569429 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.696+7A>G single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV003503475] Chr20:36927175 [GRCh38]
Chr20:35555578 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.402A>C (p.Arg134=) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV003504128] Chr20:36935136 [GRCh38]
Chr20:35563539 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.1416C>T (p.Asp472=) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV003503620] Chr20:36904244 [GRCh38]
Chr20:35532647 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.336T>C (p.Val112=) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV003503617] Chr20:36941051 [GRCh38]
Chr20:35569454 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.1746+17T>C single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV003503750] Chr20:36897805 [GRCh38]
Chr20:35526208 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.697-20A>G single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV003504244] Chr20:36919539 [GRCh38]
Chr20:35547942 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.1062+19G>C single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV003504351] Chr20:36916703 [GRCh38]
Chr20:35545106 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.1504-19G>C single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV003503849] Chr20:36898563 [GRCh38]
Chr20:35526966 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.33G>A (p.Lys11=) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV003504047] Chr20:36951611 [GRCh38]
Chr20:35580014 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.669A>G (p.Pro223=) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV003504215] Chr20:36927209 [GRCh38]
Chr20:35555612 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.84A>T (p.Ala28=) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV003503916] Chr20:36951560 [GRCh38]
Chr20:35579963 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.852+15A>C single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV003504194] Chr20:36919349 [GRCh38]
Chr20:35547752 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.180A>G (p.Glu60=) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV003503983] Chr20:36951464 [GRCh38]
Chr20:35579867 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.910A>T (p.Lys304Ter) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV003503997] Chr20:36916992 [GRCh38]
Chr20:35545395 [GRCh37]
Chr20:20q11.23		 pathogenic
NM_015474.4(SAMHD1):c.1271-14C>T single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV003504496] Chr20:36905517 [GRCh38]
Chr20:35533920 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.1154+14T>C single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV003504434] Chr20:36912447 [GRCh38]
Chr20:35540850 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.1552_1553del (p.His517_Val518insTer) deletion Aicardi-Goutieres syndrome 5 [RCV003502795] Chr20:36898495..36898496 [GRCh38]
Chr20:35526898..35526899 [GRCh37]
Chr20:20q11.23		 pathogenic
NM_015474.4(SAMHD1):c.852+11G>A single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV003502796] Chr20:36919353 [GRCh38]
Chr20:35547756 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.1410+17C>G single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV003502806] Chr20:36905347 [GRCh38]
Chr20:35533750 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.780C>A (p.Ile260=) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV003502849] Chr20:36919436 [GRCh38]
Chr20:35547839 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.510-10T>G single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV003503021] Chr20:36930885 [GRCh38]
Chr20:35559288 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.811C>T (p.Gln271Ter) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV003503209] Chr20:36919405 [GRCh38]
Chr20:35547808 [GRCh37]
Chr20:20q11.23		 pathogenic
NM_015474.4(SAMHD1):c.369T>C (p.His123=) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV003502918] Chr20:36935169 [GRCh38]
Chr20:35563572 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.1411-20G>A single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV003502934] Chr20:36904269 [GRCh38]
Chr20:35532672 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.1747-18del deletion Aicardi-Goutieres syndrome 5 [RCV003502851] Chr20:36893084 [GRCh38]
Chr20:35521487 [GRCh37]
Chr20:20q11.23		 benign
NM_015474.4(SAMHD1):c.766C>T (p.Gln256Ter) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV003503046] Chr20:36919450 [GRCh38]
Chr20:35547853 [GRCh37]
Chr20:20q11.23		 pathogenic
NM_015474.4(SAMHD1):c.1161A>C (p.Thr387=) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV003503501] Chr20:36911327 [GRCh38]
Chr20:35539730 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.1411-5T>C single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV003503565] Chr20:36904254 [GRCh38]
Chr20:35532657 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.1335A>G (p.Leu445=) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV003503008] Chr20:36905439 [GRCh38]
Chr20:35533842 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.1169_1179del (p.Ala389_Phe390insTer) deletion Aicardi-Goutieres syndrome 5 [RCV003503054] Chr20:36911309..36911319 [GRCh38]
Chr20:35539712..35539722 [GRCh37]
Chr20:20q11.23		 pathogenic
NM_015474.4(SAMHD1):c.1053dup (p.Arg352Ter) duplication Aicardi-Goutieres syndrome 5 [RCV003503121] Chr20:36916730..36916731 [GRCh38]
Chr20:35545133..35545134 [GRCh37]
Chr20:20q11.23		 pathogenic
NM_015474.4(SAMHD1):c.625+17G>A single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV003502828] Chr20:36930743 [GRCh38]
Chr20:35559146 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.145C>T (p.Gln49Ter) single nucleotide variant SAMHD1-related disorder [RCV004552452] Chr20:36951499 [GRCh38]
Chr20:35579902 [GRCh37]
Chr20:20q11.23		 likely pathogenic
NM_015474.4(SAMHD1):c.1809A>G (p.Ser603=) single nucleotide variant not provided [RCV003440390] Chr20:36893004 [GRCh38]
Chr20:35521407 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.767A>C (p.Gln256Pro) single nucleotide variant not specified [RCV003388328] Chr20:36919449 [GRCh38]
Chr20:35547852 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_015474.4(SAMHD1):c.1521T>C (p.Tyr507=) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV003609784] Chr20:36898527 [GRCh38]
Chr20:35526930 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.509+17G>C single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV003610075] Chr20:36935012 [GRCh38]
Chr20:35563415 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.1411-11G>T single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV003609710] Chr20:36904260 [GRCh38]
Chr20:35532663 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.1503+16A>C single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV003609962] Chr20:36904141 [GRCh38]
Chr20:35532544 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.1062+12C>T single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV003610093] Chr20:36916710 [GRCh38]
Chr20:35545113 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.349-16A>T single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV003609676] Chr20:36935205 [GRCh38]
Chr20:35563608 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.384C>G (p.Leu128=) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV003609796] Chr20:36935154 [GRCh38]
Chr20:35563557 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.1063-13T>C single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV003609799] Chr20:36912565 [GRCh38]
Chr20:35540968 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.1747-8C>G single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV003610220] Chr20:36893074 [GRCh38]
Chr20:35521477 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.696+20A>G single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV003609922] Chr20:36927162 [GRCh38]
Chr20:35555565 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.1482G>A (p.Lys494=) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV003608696] Chr20:36904178 [GRCh38]
Chr20:35532581 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.532C>T (p.Leu178=) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV003609816] Chr20:36930853 [GRCh38]
Chr20:35559256 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.1180_1181del (p.Ala393_Asp394insTer) deletion Aicardi-Goutieres syndrome 5 [RCV003608987] Chr20:36911307..36911308 [GRCh38]
Chr20:35539710..35539711 [GRCh37]
Chr20:20q11.23		 pathogenic
NM_015474.4(SAMHD1):c.1746+17_1746+20del deletion Aicardi-Goutieres syndrome 5 [RCV003609988] Chr20:36897802..36897805 [GRCh38]
Chr20:35526205..35526208 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.625+17G>C single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV003608855] Chr20:36930743 [GRCh38]
Chr20:35559146 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.779del (p.Ile260fs) deletion Aicardi-Goutieres syndrome 5 [RCV003609306] Chr20:36919437 [GRCh38]
Chr20:35547840 [GRCh37]
Chr20:20q11.23		 pathogenic
NM_015474.4(SAMHD1):c.1747-15C>T single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV003610239] Chr20:36893081 [GRCh38]
Chr20:35521484 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.276-9T>C single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV003610240] Chr20:36941120 [GRCh38]
Chr20:35569523 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.1166C>G (p.Ala389Gly) single nucleotide variant not provided [RCV003491430] Chr20:36911322 [GRCh38]
Chr20:35539725 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_015474.4(SAMHD1):c.1169del (p.Phe390fs) deletion Aicardi-Goutieres syndrome 5 [RCV003610141] Chr20:36911319 [GRCh38]
Chr20:35539722 [GRCh37]
Chr20:20q11.23		 pathogenic
NM_015474.4(SAMHD1):c.1410+1G>A single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV003609556] Chr20:36905363 [GRCh38]
Chr20:35533766 [GRCh37]
Chr20:20q11.23		 likely pathogenic
NM_015474.4(SAMHD1):c.209-17T>C single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV003610042] Chr20:36946821 [GRCh38]
Chr20:35575224 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.1734C>T (p.Phe578=) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV003609303] Chr20:36897834 [GRCh38]
Chr20:35526237 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.1504-11C>T single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV003609907] Chr20:36898555 [GRCh38]
Chr20:35526958 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.1410+9T>C single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV003610310] Chr20:36905355 [GRCh38]
Chr20:35533758 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.1173C>T (p.Leu391=) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV003610060] Chr20:36911315 [GRCh38]
Chr20:35539718 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.513G>A (p.Val171=) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV003609773] Chr20:36930872 [GRCh38]
Chr20:35559275 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.853-1G>C single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV003608672] Chr20:36917050 [GRCh38]
Chr20:35545453 [GRCh37]
Chr20:20q11.23		 likely pathogenic
NM_015474.4(SAMHD1):c.84A>G (p.Ala28=) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV003608676] Chr20:36951560 [GRCh38]
Chr20:35579963 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.1410+12G>A single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV003828121] Chr20:36905352 [GRCh38]
Chr20:35533755 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.1062+14G>C single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV003608684] Chr20:36916708 [GRCh38]
Chr20:35545111 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.208+13G>A single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV003608764] Chr20:36951423 [GRCh38]
Chr20:35579826 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.477_478dup (p.Ala160fs) duplication Aicardi-Goutieres syndrome 5 [RCV003608848] Chr20:36935059..36935060 [GRCh38]
Chr20:35563462..35563463 [GRCh37]
Chr20:20q11.23		 pathogenic
NM_015474.4(SAMHD1):c.1365G>A (p.Lys455=) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV003608901] Chr20:36905409 [GRCh38]
Chr20:35533812 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.141G>A (p.Pro47=) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV003878611] Chr20:36951503 [GRCh38]
Chr20:35579906 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.102G>T (p.Pro34=) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV003609116] Chr20:36951542 [GRCh38]
Chr20:35579945 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.953+19T>G single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV003609126] Chr20:36916930 [GRCh38]
Chr20:35545333 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.555A>G (p.Lys185=) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV003608966] Chr20:36930830 [GRCh38]
Chr20:35559233 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.944_945dup (p.Phe316fs) duplication Aicardi-Goutieres syndrome 5 [RCV003609021] Chr20:36916956..36916957 [GRCh38]
Chr20:35545359..35545360 [GRCh37]
Chr20:20q11.23		 pathogenic
NM_015474.4(SAMHD1):c.81C>A (p.Ser27=) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV003609032] Chr20:36951563 [GRCh38]
Chr20:35579966 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.696+10C>A single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV003608731] Chr20:36927172 [GRCh38]
Chr20:35555575 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.1612del (p.Ser538fs) deletion Aicardi-Goutieres syndrome 5 [RCV003608734] Chr20:36897956 [GRCh38]
Chr20:35526359 [GRCh37]
Chr20:20q11.23		 pathogenic
NM_015474.4(SAMHD1):c.15T>C (p.Asp5=) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV003609455] Chr20:36951629 [GRCh38]
Chr20:35580032 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.1063-16T>G single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV003609740] Chr20:36912568 [GRCh38]
Chr20:35540971 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.1608+20A>G single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV003609495] Chr20:36898420 [GRCh38]
Chr20:35526823 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.349-18_349-15del microsatellite Aicardi-Goutieres syndrome 5 [RCV003825072] Chr20:36935204..36935207 [GRCh38]
Chr20:35563607..35563610 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.1063-7C>T single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV003608782] Chr20:36912559 [GRCh38]
Chr20:35540962 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.498G>A (p.Glu166=) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV003608934] Chr20:36935040 [GRCh38]
Chr20:35563443 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.625+12A>G single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV003609337] Chr20:36930748 [GRCh38]
Chr20:35559151 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.297G>A (p.Lys99=) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV003609004] Chr20:36941090 [GRCh38]
Chr20:35569493 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.141G>C (p.Pro47=) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV003609036] Chr20:36951503 [GRCh38]
Chr20:35579906 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.1053T>G (p.Ala351=) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV003609396] Chr20:36916731 [GRCh38]
Chr20:35545134 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.848C>G (p.Ser283Ter) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV003609056] Chr20:36919368 [GRCh38]
Chr20:35547771 [GRCh37]
Chr20:20q11.23		 pathogenic
NM_015474.4(SAMHD1):c.1038G>A (p.Glu346=) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV003609658] Chr20:36916746 [GRCh38]
Chr20:35545149 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.480T>G (p.Ala160=) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV003608668] Chr20:36935058 [GRCh38]
Chr20:35563461 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.225C>A (p.Gly75=) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV003881025] Chr20:36946788 [GRCh38]
Chr20:35575191 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.1270+20A>G single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV003877068] Chr20:36911198 [GRCh38]
Chr20:35539601 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.1324C>A (p.Arg442=) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV003826988] Chr20:36905450 [GRCh38]
Chr20:35533853 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.852+17C>T single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV003876006] Chr20:36919347 [GRCh38]
Chr20:35547750 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.954-17T>G single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV003610367] Chr20:36916847 [GRCh38]
Chr20:35545250 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.1701A>G (p.Gln567=) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV003610532] Chr20:36897867 [GRCh38]
Chr20:35526270 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.1380G>T (p.Thr460=) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV003610539] Chr20:36905394 [GRCh38]
Chr20:35533797 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.94T>C (p.Trp32Arg) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV003832169] Chr20:36951550 [GRCh38]
Chr20:35579953 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_015474.4(SAMHD1):c.75C>T (p.Thr25=) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV003610675] Chr20:36951569 [GRCh38]
Chr20:35579972 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.1155-8A>C single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV003610821] Chr20:36911341 [GRCh38]
Chr20:35539744 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.1063-15C>A single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV003610832] Chr20:36912567 [GRCh38]
Chr20:35540970 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.1503+11A>G single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV003610965] Chr20:36904146 [GRCh38]
Chr20:35532549 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.1329G>T (p.Glu443Asp) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV003610349] Chr20:36905445 [GRCh38]
Chr20:35533848 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_015474.4(SAMHD1):c.1776A>G (p.Thr592=) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV003610358] Chr20:36893037 [GRCh38]
Chr20:35521440 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.696+2T>C single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV003610377] Chr20:36927180 [GRCh38]
Chr20:35555583 [GRCh37]
Chr20:20q11.23		 likely pathogenic
NM_015474.4(SAMHD1):c.1271-18A>C single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV003850969] Chr20:36905521 [GRCh38]
Chr20:35533924 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.209-18G>A single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV003610433] Chr20:36946822 [GRCh38]
Chr20:35575225 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.953G>A (p.Arg318Lys) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV003849527] Chr20:36916949 [GRCh38]
Chr20:35545352 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_015474.4(SAMHD1):c.855G>A (p.Trp285Ter) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV003610505] Chr20:36917047 [GRCh38]
Chr20:35545450 [GRCh37]
Chr20:20q11.23		 pathogenic
NM_015474.4(SAMHD1):c.861_862dup (p.Lys288fs) microsatellite Aicardi-Goutieres syndrome 5 [RCV003839493] Chr20:36917039..36917040 [GRCh38]
Chr20:35545442..35545443 [GRCh37]
Chr20:20q11.23		 pathogenic
NM_015474.4(SAMHD1):c.1609-11A>T single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV003610768] Chr20:36897970 [GRCh38]
Chr20:35526373 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.852+1G>A single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV003855638] Chr20:36919363 [GRCh38]
Chr20:35547766 [GRCh37]
Chr20:20q11.23		 likely pathogenic
NM_015474.4(SAMHD1):c.1154+12G>T single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV003610479] Chr20:36912449 [GRCh38]
Chr20:35540852 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.1411-19G>T single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV003610491] Chr20:36904268 [GRCh38]
Chr20:35532671 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.1293A>G (p.Leu431=) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV003610508] Chr20:36905481 [GRCh38]
Chr20:35533884 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.1161A>G (p.Thr387=) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV003610759] Chr20:36911327 [GRCh38]
Chr20:35539730 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.1389del (p.Gly464fs) deletion Aicardi-Goutieres syndrome 5 [RCV003502285] Chr20:36905385 [GRCh38]
Chr20:35533788 [GRCh37]
Chr20:20q11.23		 pathogenic
NM_015474.4(SAMHD1):c.819A>G (p.Val273=) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV003502325] Chr20:36919397 [GRCh38]
Chr20:35547800 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.1428T>A (p.Leu476=) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV003502374] Chr20:36904232 [GRCh38]
Chr20:35532635 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.147G>A (p.Gln49=) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV003502407] Chr20:36951497 [GRCh38]
Chr20:35579900 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.1270+10A>G single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV003502448] Chr20:36911208 [GRCh38]
Chr20:35539611 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.625+11C>T single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV003502493] Chr20:36930749 [GRCh38]
Chr20:35559152 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.1839A>C (p.Ala613=) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV003502295] Chr20:36892974 [GRCh38]
Chr20:35521377 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.1581C>T (p.Asn527=) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV003610266] Chr20:36898467 [GRCh38]
Chr20:35526870 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.208+16G>T single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV003814439] Chr20:36951420 [GRCh38]
Chr20:35579823 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.822A>G (p.Gly274=) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV003502137] Chr20:36919394 [GRCh38]
Chr20:35547797 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.120C>G (p.Pro40=) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV003502478] Chr20:36951524 [GRCh38]
Chr20:35579927 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.1154+12G>A single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV003502485] Chr20:36912449 [GRCh38]
Chr20:35540852 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.1154+15T>G single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV003502211] Chr20:36912446 [GRCh38]
Chr20:35540849 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.625+10A>T single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV003502258] Chr20:36930750 [GRCh38]
Chr20:35559153 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.509+14G>A single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV003502264] Chr20:36935015 [GRCh38]
Chr20:35563418 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.276-13A>G single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV003610734] Chr20:36941124 [GRCh38]
Chr20:35569527 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.287del (p.Glu96fs) deletion Aicardi-Goutieres syndrome 5 [RCV003821001] Chr20:36941100 [GRCh38]
Chr20:35569503 [GRCh37]
Chr20:20q11.23		 pathogenic
NM_015474.4(SAMHD1):c.465T>G (p.Tyr155Ter) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV003820382] Chr20:36935073 [GRCh38]
Chr20:35563476 [GRCh37]
Chr20:20q11.23		 pathogenic
NM_015474.4(SAMHD1):c.1271-14C>G single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV003860947] Chr20:36905517 [GRCh38]
Chr20:35533920 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.208+18G>A single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV003845013] Chr20:36951418 [GRCh38]
Chr20:35579821 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.349-11T>C single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV003858036] Chr20:36935200 [GRCh38]
Chr20:35563603 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.1389A>G (p.Thr463=) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV003871075] Chr20:36905385 [GRCh38]
Chr20:35533788 [GRCh37]
Chr20:20q11.23		 likely benign
GRCh37/hg19 20q11.23(chr20:35484010-35540938)x3 copy number gain not specified [RCV003986135] Chr20:35484010..35540938 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_015474.4(SAMHD1):c.1256dup (p.Tyr419Ter) duplication Aicardi-Goutieres syndrome 5 [RCV003866958] Chr20:36911231..36911232 [GRCh38]
Chr20:35539634..35539635 [GRCh37]
Chr20:20q11.23		 pathogenic
NM_015474.4(SAMHD1):c.56del (p.Pro19fs) deletion Aicardi-Goutieres syndrome 5 [RCV003867172] Chr20:36951588 [GRCh38]
Chr20:35579991 [GRCh37]
Chr20:20q11.23		 pathogenic
NM_015474.4(SAMHD1):c.1503+15C>T single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV003853765] Chr20:36904142 [GRCh38]
Chr20:35532545 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.696+17T>C single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV003824133] Chr20:36927165 [GRCh38]
Chr20:35555568 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.282G>A (p.Leu94=) single nucleotide variant Aicardi-Goutieres syndrome 5 [RCV003860231] Chr20:36941105 [GRCh38]
Chr20:35569508 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.1373G>A (p.Gly458Asp) single nucleotide variant SAMHD1-related disorder [RCV004548820] Chr20:36905401 [GRCh38]
Chr20:35533804 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_015474.4(SAMHD1):c.1747-835A>C single nucleotide variant SAMHD1-related disorder [RCV004550892] Chr20:36893901 [GRCh38]
Chr20:35522304 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.1747-855_1747-843del deletion SAMHD1-related disorder [RCV004552823] Chr20:36893909..36893921 [GRCh38]
Chr20:35522312..35522324 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.317G>A (p.Arg106Gln) single nucleotide variant not provided [RCV003884207] Chr20:36941070 [GRCh38]
Chr20:35569473 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_015474.4(SAMHD1):c.853-2A>G single nucleotide variant not provided [RCV003887414] Chr20:36917051 [GRCh38]
Chr20:35545454 [GRCh37]
Chr20:20q11.23		 pathogenic
NC_000020.10:g.(?_35559143)_(35559298_?)del deletion Aicardi-Goutieres syndrome 5 [RCV004579458] Chr20:35559143..35559298 [GRCh37]
Chr20:20q11.23		 pathogenic
NC_000020.10:g.(?_35569422)_(35575227_?)del deletion Aicardi-Goutieres syndrome 5 [RCV004579460] Chr20:35569422..35575227 [GRCh37]
Chr20:20q11.23		 pathogenic
NC_000020.10:g.(?_35547747)_(35555675_?)del deletion Aicardi-Goutieres syndrome 5 [RCV004579461] Chr20:35547747..35555675 [GRCh37]
Chr20:20q11.23		 pathogenic
NC_000020.10:g.(?_35532540)_(35547942_?)del deletion Aicardi-Goutieres syndrome 5 [RCV004579463] Chr20:35532540..35547942 [GRCh37]
Chr20:20q11.23		 pathogenic
NM_015474.4(SAMHD1):c.1036G>A (p.Glu346Lys) single nucleotide variant Inborn genetic diseases [RCV004661429] Chr20:36916748 [GRCh38]
Chr20:35545151 [GRCh37]
Chr20:20q11.23		 likely benign
NM_015474.4(SAMHD1):c.868C>T (p.Arg290Cys) single nucleotide variant not specified [RCV004766544] Chr20:36917034 [GRCh38]
Chr20:35545437 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_015474.4(SAMHD1):c.619G>C (p.Asp207His) single nucleotide variant SAMHD1-related disorder [RCV004740819] Chr20:36930766 [GRCh38]
Chr20:35559169 [GRCh37]
Chr20:20q11.23		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1313
Count of miRNA genes:839
Interacting mature miRNAs:952
Transcripts:ENST00000262878, ENST00000373694, ENST00000465985
Prediction methods:Microtar, Miranda, Rnahybrid
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
407050497GWAS699473_Htriacylglycerol 54:1 measurement QTL GWAS699473 (human)0.000004blood triglyceride amount (VT:0002644)203693628636936287Human
407216231GWAS865207_Hbody height QTL GWAS865207 (human)3e-08body height (VT:0001253)body height (CMO:0000106)203691627036916271Human
407017441GWAS666417_Hbody height QTL GWAS666417 (human)1e-42body height (VT:0001253)body height (CMO:0000106)203695027736950278Human
406937511GWAS586487_Hsuntan QTL GWAS586487 (human)1e-44suntan203692321436923215Human
407106347GWAS755323_Hbody height QTL GWAS755323 (human)2e-43body height (VT:0001253)body height (CMO:0000106)203695027736950278Human
407123151GWAS772127_Hhair colour measurement QTL GWAS772127 (human)3e-37hair colour measurementcoat/hair color measurement (CMO:0001808)203694929436949295Human
407211819GWAS860795_Htelomere length QTL GWAS860795 (human)5e-18telomere length203692279536922796Human
407328105GWAS977081_Hdiet measurement QTL GWAS977081 (human)4e-16diet measurementfood intake measurement (CMO:0000772)203690007236900073Human
407274486GWAS923462_Hbody height QTL GWAS923462 (human)9e-281body height (VT:0001253)body height (CMO:0000106)203690505936905060Human
407274487GWAS923463_Hbody height QTL GWAS923463 (human)3e-37body height (VT:0001253)body height (CMO:0000106)203694160836941609Human
1300007BP29_HBlood pressure QTL 29 (human)Blood pressurehypertension susceptibility203653600562536005Human
406890484GWAS539460_Hbody height QTL GWAS539460 (human)0.0000004body height (VT:0001253)body height (CMO:0000106)203690059836900599Human
407056436GWAS705412_Htelomere length QTL GWAS705412 (human)6e-08telomere length203692319236923193Human
407253649GWAS902625_Htaste liking measurement QTL GWAS902625 (human)4e-15taste liking measurement203691002136910022Human
407018714GWAS667690_Hbody height QTL GWAS667690 (human)3e-09body height (VT:0001253)body height (CMO:0000106)203689003636890037Human
406894749GWAS543725_Hbody surface area QTL GWAS543725 (human)5e-14body surface area203694233736942338Human
407033628GWAS682604_Halcohol consumption measurement QTL GWAS682604 (human)1e-10alcohol consumption measurementethanol drink intake rate (CMO:0001407)203691480436914805Human
407042940GWAS691916_Hbody mass index QTL GWAS691916 (human)3e-10body mass indexbody mass index (BMI) (CMO:0000105)203694544136945442Human
407282968GWAS931944_Hvaginal microbiome measurement QTL GWAS931944 (human)0.000005vaginal microbiome measurement203694211536942116Human

Markers in Region
WI-11878  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372035,521,125 - 35,521,253UniSTSGRCh37
Build 362034,954,539 - 34,954,667RGDNCBI36
Celera2032,228,673 - 32,228,801RGD
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map20pter-q12UniSTS
HuRef2032,256,849 - 32,256,977UniSTS
GeneMap99-GB4 RH Map20207.11UniSTS
Whitehead-RH Map20232.9UniSTS
NCBI RH Map20307.3UniSTS
A005D07  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372035,521,144 - 35,521,330UniSTSGRCh37
Build 362034,954,558 - 34,954,744RGDNCBI36
Celera2032,228,692 - 32,228,878RGD
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map20pter-q12UniSTS
HuRef2032,256,868 - 32,257,054UniSTS
GeneMap99-GB4 RH Map20207.11UniSTS
Whitehead-RH Map20224.3UniSTS
NCBI RH Map20306.8UniSTS
1452  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372035,559,161 - 35,559,230UniSTSGRCh37
Build 362034,992,575 - 34,992,644RGDNCBI36
Celera2032,266,724 - 32,266,793RGD
Cytogenetic Map20pter-q12UniSTS
HuRef2032,295,215 - 32,295,284UniSTS
GeneMap99-GB4 RH Map20209.07UniSTS
RH45857  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372035,520,300 - 35,520,404UniSTSGRCh37
Build 362034,953,714 - 34,953,818RGDNCBI36
Celera2032,227,848 - 32,227,952RGD
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map20pter-q12UniSTS
HuRef2032,256,024 - 32,256,128UniSTS
GeneMap99-GB4 RH Map20208.37UniSTS
SAMHD1_9434  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372035,520,643 - 35,521,175UniSTSGRCh37
Build 362034,954,057 - 34,954,589RGDNCBI36
Celera2032,228,191 - 32,228,723RGD
HuRef2032,256,367 - 32,256,899UniSTS
RH48138  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372035,522,368 - 35,522,506UniSTSGRCh37
Build 362034,955,782 - 34,955,920RGDNCBI36
Celera2032,229,916 - 32,230,054RGD
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map20pter-q12UniSTS
HuRef2032,258,092 - 32,258,230UniSTS
GeneMap99-GB4 RH Map20207.61UniSTS
NCBI RH Map20306.8UniSTS
RH66067  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372035,526,259 - 35,526,875UniSTSGRCh37
Celera2032,233,808 - 32,234,424UniSTS
Cytogenetic Map20pter-q12UniSTS
HuRef2032,261,989 - 32,262,605UniSTS
GeneMap99-GB4 RH Map20207.83UniSTS
NCBI RH Map20306.8UniSTS


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 2439 2788 2253 4971 1726 2351 5 624 1951 465 2268 7304 6470 53 3733 1 852 1743 1617 175 1

Sequence