SAMHD1 (SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1)

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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; dGTPase activity; and nucleic acid binding activity. Involved in several processes, including DNA metabolic process; protein homotetramerization; 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 Genes

More Info

more info ...

Allele / Splice:

See ClinVar data

Latest Assembly:

GRCh38 - Human Genome Assembly GRCh38

Position:

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	20	36,889,773 - 36,951,708 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p13 Ensembl	20	36,890,229 - 36,951,893 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	20	35,518,176 - 35,580,111 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	20	34,954,059 - 35,013,590 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	20	34,954,058 - 35,013,590	NCBI
Celera	20	32,227,775 - 32,287,786 (-)	NCBI		Celera
Cytogenetic Map	20	q11.23	NCBI
HuRef	20	32,255,951 - 32,316,085 (-)	NCBI		HuRef
CHM1_1	20	35,421,787 - 35,482,498 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	20	38,614,121 - 38,676,051 (-)	NCBI		T2T-CHM13v2.0

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

Disease Annotations Click to see Annotation Detail View

acute myeloid leukemia (IMP)

Aicardi-Goutieres syndrome (EXP,IAGP)

Aicardi-Goutieres Syndrome 5 (EXP,IAGP)

cerebral palsy (IAGP)

Chilblain Lupus 1 (EXP)

Chilblain Lupus 2 (IAGP)

Cytomegalovirus Infections (ISO)

Deoxyguanosine Kinase Deficiency (EXP)

focal epilepsy (IAGP)

genetic disease (IAGP)

hepatitis B (IAGP)

hepatitis C (IAGP)

multiple myeloma (IAGP)

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)

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)

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)

dorsomorphin (EXP)

doxorubicin (EXP)

entinostat (EXP)

enzyme inhibitor (EXP)

formaldehyde (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)

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)

titanium dioxide (EXP)

trichostatin A (EXP)

Triptolide (ISO)

triptonide (ISO)

valproic acid (EXP)

vancomycin (ISO)

vincristine (EXP)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

dATP catabolic process (IDA)

defense response to virus (IBA,IDA,IEA,IMP,ISO)

deoxyribonucleotide catabolic process (IDA)

dGTP catabolic process (IBA,IDA)

DNA damage response (IDA,IEA)

DNA repair (IEA)

DNA replication (IEA)

DNA strand resection involved in replication fork processing (IDA)

double-strand break repair via homologous recombination (IDA)

immune response (NAS)

immune system process (IEA)

innate immune response (IEA)

modulation by host of viral RNA genome replication (ISO)

negative regulation of type I interferon-mediated signaling pathway (IDA,IEA)

negative regulation of viral life cycle (ISO)

positive regulation of DNA-templated transcription (ISO)

protein homotetramerization (IDA,IEA)

regulation of innate immune response (IBA,IDA,IMP)

RNA phosphodiester bond hydrolysis (IEA)

somatic hypermutation of immunoglobulin genes (IEA,ISS)

Cellular Component

chromosome (IEA)

nucleoplasm (IDA,TAS)

nucleus (IBA)

nucleus (IBA,IDA)

nucleus (IDA)

nucleus (IEA)

plasma membrane (IDA)

site of double-strand break (IDA)

tetraspanin-enriched microdomain (IDA)

Molecular Function

catalytic activity (IEA)

deoxynucleoside triphosphate hydrolase activity (IEA)

dGTP binding (IDA)

dGTPase activity (IBA,IDA,IEA)

GTP binding (IEA)

hydrolase activity (IEA)

identical protein binding (IPI)

metal ion binding (IEA)

nucleic acid binding (IDA)

nucleotide binding (IEA)

protein binding (IPI)

RNA binding (IDA)

RNA nuclease activity (IDA)

single-stranded DNA binding (IDA)

triphosphoric monoester hydrolase activity (IDA,IEA)

zinc ion binding (IDA)

Phenotype Annotations Click to see Annotation Detail View

Human Phenotype

Abnormal pyramidal sign (IAGP)

Acrocyanosis (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)

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)

Difficulty walking (IAGP)

Dry skin (IAGP)

Dystonia (IAGP)

Elevated hepatic transaminase (IAGP)

Enchondroma (IAGP)

Extrapyramidal muscular rigidity (IAGP)

Eyelid coloboma (IAGP)

Feeding difficulties in infancy (IAGP)

Flexion contracture (IAGP)

Focal-onset seizure (IAGP)

Global developmental delay (IAGP)

Headache (IAGP)

Hemiplegia/hemiparesis (IAGP)

Hepatosplenomegaly (IAGP)

Hoarse voice (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)

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)

Nystagmus (IAGP)

Panniculitis (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)

Variable expressivity (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: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: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:35670736	PMID:35687106	PMID:35803902
PMID:35819319	PMID:35831314	PMID:35893688	PMID:35944360	PMID:36057605	PMID:36114006	PMID:36150385	PMID:36215168	PMID:36244648	PMID:36377871	PMID:36532074	PMID:36578072
PMID:36845138

Genomics

Comparative Map Data

SAMHD1
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	20	36,889,773 - 36,951,708 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p13 Ensembl	20	36,890,229 - 36,951,893 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	20	35,518,176 - 35,580,111 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	20	34,954,059 - 35,013,590 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	20	34,954,058 - 35,013,590	NCBI
Celera	20	32,227,775 - 32,287,786 (-)	NCBI		Celera
Cytogenetic Map	20	q11.23	NCBI
HuRef	20	32,255,951 - 32,316,085 (-)	NCBI		HuRef
CHM1_1	20	35,421,787 - 35,482,498 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	20	38,614,121 - 38,676,051 (-)	NCBI		T2T-CHM13v2.0

Samhd1
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	2	156,939,454 - 156,977,016 (-)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	2	156,939,453 - 156,977,185 (-)	Ensembl		GRCm39 Ensembl
GRCm38	2	157,097,534 - 157,135,096 (-)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	2	157,097,533 - 157,135,265 (-)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	2	156,923,265 - 156,960,958 (-)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	2	156,788,970 - 156,826,663 (-)	NCBI		MGSCv36	mm8
Celera	2	163,030,928 - 163,069,082 (-)	NCBI		Celera
Cytogenetic Map	2	H1	NCBI

Samhd1
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
mRatBN7.2	3	145,761,549 - 145,794,420 (-)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	3	145,761,558 - 145,794,386 (-)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	3	149,586,957 - 149,619,774 (-)	NCBI	Rnor_SHR
UTH_Rnor_SHRSP_BbbUtx_1.0	3	158,084,906 - 158,117,628 (-)	NCBI	Rnor_SHRSP
UTH_Rnor_WKY_Bbb_1.0	3	155,825,467 - 155,858,563 (-)	NCBI	Rnor_WKY
Rnor_6.0	3	153,210,829 - 153,250,705 (-)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	3	153,210,829 - 153,250,641 (-)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	3	158,468,644 - 158,504,183 (+)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	3	147,689,421 - 147,727,429 (-)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	3	147,595,329 - 147,627,065 (-)	NCBI
Celera	3	144,468,270 - 144,500,913 (-)	NCBI		Celera
Cytogenetic Map	3	q42	NCBI

Samhd1
(Chinchilla lanigera - long-tailed chinchilla)

Chinchilla Assembly	Chr	Position (strand)	Source	Genome Browsers
Chinchilla Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChiLan1.0 Ensembl	NW_004955422	24,735,161 - 24,778,830 (+)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955422	24,714,103 - 24,780,672 (+)	NCBI	ChiLan1.0	ChiLan1.0

SAMHD1
(Pan paniscus - bonobo/pygmy chimpanzee)

Bonobo Assembly	Chr	Position (strand)	Source	Genome Browsers
Bonobo Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
PanPan1.1	20	34,341,367 - 34,398,514 (-)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	20	34,341,367 - 34,398,314 (-)	Ensembl	panpan1.1		panPan2
Mhudiblu_PPA_v0	20	33,224,200 - 33,282,018 (-)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3

SAMHD1
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	24	25,623,997 - 25,676,336 (-)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	24	25,626,134 - 25,680,902 (-)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	24	25,269,008 - 25,324,975 (-)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	24	26,321,372 - 26,377,665 (-)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	24	26,322,848 - 26,373,771 (-)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	24	25,599,032 - 25,655,273 (-)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	24	25,699,545 - 25,755,789 (-)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	24	26,189,021 - 26,245,159 (-)	NCBI		UU_Cfam_GSD_1.0

Samhd1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)

Squirrel Assembly	Chr	Position (strand)	Source	Genome Browsers
Squirrel Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HiC_Itri_2	NW_024408640	174,510,839 - 174,568,927 (-)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936561	4,180,546 - 4,229,036 (+)	Ensembl	SpeTri2.0
SpeTri2.0	NW_004936561	4,180,607 - 4,238,623 (+)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

SAMHD1
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	17	40,107,462 - 40,171,878 (-)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	17	40,117,348 - 40,171,935 (-)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	17	45,558,314 - 45,611,643 (-)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

SAMHD1
(Chlorocebus sabaeus - green monkey)

Green Monkey Assembly	Chr	Position (strand)	Source	Genome Browsers
Green Monkey Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChlSab1.1	2	57,641,634 - 57,699,685 (-)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	2	57,639,046 - 57,699,525 (-)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666054	357,564 - 415,279 (+)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Samhd1
(Heterocephalus glaber - naked mole-rat)

Naked Mole-rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Naked Mole-rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HetGla_female_1.0 Ensembl	NW_004624842	2,591,148 - 2,647,742 (+)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624842	2,591,016 - 2,649,746 (+)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants

Variants in SAMHD1
460 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]	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
NM_015474.3(SAMHD1):c.-6085_209-1941del	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\|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]	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 5 [RCV001242221]\|not provided [RCV000657877]	Chr20:36905431 [GRCh38] Chr20:35533834 [GRCh37] Chr20:20q11.23	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]	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]	Chr20:36935104 [GRCh38] Chr20:35563507 [GRCh37] Chr20:20q11.23	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]	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]	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]	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]	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_015474.4(SAMHD1):c.*60A>G	single nucleotide variant	Aicardi-Goutieres syndrome 5 [RCV000282011]\|Chilblain lupus 2 [RCV000400320]	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]	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_080628.3(TLDC2):c.*18-1G>T	single nucleotide variant	Aicardi-Goutieres syndrome 5 [RCV000335485]\|Chilblain lupus 2 [RCV000294485]\|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]	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]	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]	Chr20:36930814 [GRCh38] Chr20:35559217 [GRCh37] Chr20:20q11.23	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]	Chr20:36893016 [GRCh38] Chr20:35521419 [GRCh37] Chr20:20q11.23	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]	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 [RCV000708414]	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]	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]\|not provided [RCV000928677]	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	not provided [RCV000915291]	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]\|not provided [RCV000944666]	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]\|not provided [RCV000894963]	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]\|not provided [RCV000981995]	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]\|not provided [RCV000982073]	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]\|not provided [RCV000887776]	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]\|not provided [RCV000981085]	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]	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]	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]	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]\|not provided [RCV000941007]	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]\|not provided [RCV000895679]	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]	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]	Chr20:36911246 [GRCh38] Chr20:35539649 [GRCh37] Chr20:20q11.23	likely benign
NM_080628.3(TLDC2):c.*233GA[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]\|not provided [RCV000929274]	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]	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]	Chr20:36930839 [GRCh38] Chr20:35559242 [GRCh37] Chr20:20q11.23	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]	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]	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]	Chr20:36897875 [GRCh38] Chr20:35526278 [GRCh37] Chr20:20q11.23	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]	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]	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]	Chr20:36951530 [GRCh38] Chr20:35579933 [GRCh37] Chr20:20q11.23	likely benign
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]	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 [RCV002043942]	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]	Chr20:36898465 [GRCh38] Chr20:35526868 [GRCh37] Chr20:20q11.23	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]</

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