MSeqDR Mitochondrial Disease Portal


 
*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
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Aortic Diseases (D001018)
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Vascular Calcification (D061205)
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Singleton Merten syndrome (C537343)

       Child Nodes:



 Sister Nodes: 
..expandArterial calcification of infancy (C537440)
..expandMonckeberg Medial Calcific Sclerosis (D050380)
..expandSingleton Merten syndrome (C537343)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:11251
Name:Singleton Merten syndrome
Definition:
Alternative IDs:OMIM:182250
ParentIDs:MESH:D001018|MESH:D003744|MESH:D009135|MESH:D010024|MESH:D018126|MESH:D061205
TreeNumbers:C05.116.198.579/C537343 |C05.651/C537343 |C07.650.800.255/C537343 |C07.650.800.600/C537343 |C07.793.700.255/C537343 |C07.793.700.600/C537343 |C10.668.491/C537343 |C14.907.109/C537343 |C16.131.850.800.255/C537343 |C16.131.850.800.600/C537343 |C18.452.104.579/C53734
Synonyms:Merten-Singleton syndrome |SGMRT1 |Singleton-Merten Syndrome |SINGLETON-MERTEN SYNDROME 1
Slim Mappings:Cardiovascular disease|Congenital abnormality|Metabolic disease|Mouth disease|Musculoskeletal disease|Nervous system disease
Reference: MedGen: C537343
MeSH: C537343
OMIM: 182250;
MSeqDR LSDB:  
Genes: IFIH1;
Phenotypes
1 HP:0000006Autosomal dominant inheritance
2 HP:0005303Aortic arch calcification
3 HP:0004380Aortic valve calcification
4 HP:0001650Aortic valve stenosis
5 HP:0000337Broad forehead
6 HP:0001640Cardiomegaly
7 HP:0000670Carious teeth
8 HP:0001635Congestive heart failure
9 HP:0002673Coxa valga
10 HP:0000992Cutaneous photosensitivity
11 HP:0004325Decreased body weight
12 HP:0006232Expanded metacarpals with widened medullary cavities
13 HP:0008102Expanded metatarsals with widened medullary cavities
14 HP:0006112Expanded phalanges with widened medullary cavities
15 HP:0001290Generalized hypotonia
16 HP:0002857Genu valgum
17 HP:0000501Glaucoma
18 HP:0009890High anterior hairline
19 HP:0002827Hip dislocation
20 HP:0030043Hip subluxation
21 HP:0000327Hypoplasia of the maxilla
22 HP:0006353Hypoplasia of the tooth germ
23 HP:0006386Hypoplastic distal radial epiphyses
24 HP:0004382Mitral valve calcification
25 HP:0001324Muscle weakness
NAMDC:  Muscle weakness: diffuse
26 HP:0001252Muscular hypotonia
NAMDC:  Hypotonia
27 HP:0000545Myopia
28 HP:0001806Onycholysis
29 HP:0009771Osteolytic defects of the phalanges of the hand
30 HP:0000939Osteoporosis
31 HP:0001761Pes cavus
32 HP:0002205Recurrent respiratory infections
33 HP:0003182Shallow acetabular fossae
34 HP:0004322Short stature
NAMDC:  Short stature (patient¡¯s height is below the 3rd percentile)
35 HP:0000319Smooth philtrum
36 HP:0001682Subvalvular aortic stenosis
37 HP:0001762Talipes equinovarus
38 HP:0100550Tendon rupture
39 HP:0000706Unerupted tooth
40 HP:0002515Waddling gait
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_022168.4(IFIH1):c.*7del64135IFIH1Uncertain significance-1RCV001771631; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163123703163123703ATA163123702-
NC_000002.11:g.(?_163123710)_(163174817_?)dup64135IFIH1Uncertain significance-1RCV002014653; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163123710163174817nana-1-
NC_000002.11:g.(?_163123710)_(163174817_?)del64135IFIH1Uncertain significance-1RCV001946249; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163123710163174817nana-1-
NM_022168.4(IFIH1):c.3067G>T (p.Asp1023Tyr)64135IFIH1Uncertain significance-1RCV001936953; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163123721163123721CA163123721-
NM_022168.4(IFIH1):c.3055del (p.Cys1019fs)64135IFIH1Uncertain significancers1392296770RCV001038091; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163123733163123733CAC2:g.163123733_163123733del-
NM_022168.4(IFIH1):c.3036T>A (p.Asn1012Lys)64135IFIH1Likely benign-1RCV002073661; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163123752163123752AT163123752-
NM_022168.4(IFIH1):c.3035A>G (p.Asn1012Ser)64135IFIH1Uncertain significance-1RCV001875633; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163123753163123753TC163123753-
NM_022168.4(IFIH1):c.3025A>G (p.Thr1009Ala)64135IFIH1Uncertain significance-1RCV001953945; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163123763163123763TC163123763-
NM_022168.4(IFIH1):c.3006G>A (p.Lys1002=)64135IFIH1Likely benign-1RCV002120886; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163123782163123782CT163123782-
NM_022168.4(IFIH1):c.2998T>C (p.Tyr1000His)64135IFIH1Uncertain significancers1163178795RCV000798063; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163123790163123790AG2:g.163123790A>G-
NM_022168.4(IFIH1):c.2990del (p.Lys997fs)64135IFIH1Uncertain significance-1RCV001903579; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163123798163123798CTC163123797-
NM_022168.4(IFIH1):c.2988A>G (p.Thr996=)64135IFIH1Likely benign-1RCV002152338; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163123800163123800TC163123800-
NM_022168.4(IFIH1):c.2978A>C (p.Asn993Thr)64135IFIH1Uncertain significance-1RCV002013348; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163123810163123810TG163123810-
NM_022168.4(IFIH1):c.2973C>A (p.Phe991Leu)64135IFIH1Uncertain significancers763358277RCV001348639; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163123815163123815GT163123815-
NM_022168.4(IFIH1):c.2968G>T (p.Val990Phe)64135IFIH1Uncertain significance-1RCV002015566; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163123820163123820CA163123820-
NM_022168.4(IFIH1):c.2964A>G (p.Val988=)64135IFIH1Likely benign-1RCV002187878; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163123824163123824TC163123824-
NM_022168.4(IFIH1):c.2962G>A (p.Val988Ile)64135IFIH1Uncertain significancers74162090RCV000695938; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163123826163123826CT2:g.163123826C>T-C3888244 615846 Aicardi-Goutieres syndrome 7;
NM_022168.4(IFIH1):c.2962G>T (p.Val988Leu)64135IFIH1Conflicting interpretations of pathogenicityrs74162090RCV000875467|RCV001772162; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191|MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163123826163123826CA2:g.163123826C>A-
NM_022168.4(IFIH1):c.2946C>T (p.Leu982=)64135IFIH1Benignrs74162089RCV000529571; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163123842163123842GANC_000002.11:g.163123842G>AClinGen:CA1934012C3888244 615846 Aicardi-Goutieres syndrome 7;
NM_022168.4(IFIH1):c.2937G>A (p.Leu979=)64135IFIH1Likely benignrs372007025RCV000652109; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163123851163123851CTNC_000002.11:g.163123851C>TClinGen:CA1934015C3888244 615846 Aicardi-Goutieres syndrome 7;
NM_022168.4(IFIH1):c.2936T>G (p.Leu979Trp)64135IFIH1Likely pathogenicrs1553696482RCV000652093; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163123852163123852AC2:g.163123852A>CClinGen:CA348989246C3888244 615846 Aicardi-Goutieres syndrome 7;
NM_022168.4(IFIH1):c.2920C>T (p.His974Tyr)64135IFIH1Uncertain significancers748198655RCV000768233; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163123868163123868GANC_000002.11:g.163123868G>A-
NM_022168.4(IFIH1):c.2919G>C (p.Val973=)64135IFIH1Conflicting interpretations of pathogenicityrs376116707RCV000503027|RCV000951645; NMedGen:CN169374|MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163123869163123869CGNC_000002.11:g.163123869C>GClinGen:CA1934019CN169374 not specified;
NM_022168.4(IFIH1):c.2917G>A (p.Val973Met)64135IFIH1Uncertain significancers773526836RCV001233409; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163123871163123871CT2:g.163123871C>T-
NM_022168.4(IFIH1):c.2914A>C (p.Met972Leu)64135IFIH1Uncertain significance-1RCV001877027; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163123874163123874TG163123874-
NM_022168.4(IFIH1):c.2903G>A (p.Trp968Ter)64135IFIH1Uncertain significance-1RCV002013657; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163123885163123885CT163123885-
NM_022168.4(IFIH1):c.2899-4C>T64135IFIH1Benignrs114541610RCV000875926; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163123893163123893GA2:g.163123893G>A-
NM_022168.4(IFIH1):c.2899-5T>C64135IFIH1Likely benign-1RCV002086603; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163123894163123894AG163123894-
NM_022168.4(IFIH1):c.2899-16C>G64135IFIH1Likely benign-1RCV002126453; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163123905163123905GC163123905-
NM_022168.4(IFIH1):c.2898+17G>A64135IFIH1Benign-1RCV002160708; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163123972163123972CT163123972-
NM_022168.4(IFIH1):c.2898+14T>C64135IFIH1Likely benign-1RCV001491597; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163123975163123975AG163123975-
NM_022168.4(IFIH1):c.2898+5G>C64135IFIH1Uncertain significance-1RCV001870724; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163123984163123984CG163123984-
NM_022168.4(IFIH1):c.2894G>T (p.Gly965Val)64135IFIH1Uncertain significance-1RCV001988540; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163123993163123993CA163123993-
NM_022168.4(IFIH1):c.2893G>A (p.Gly965Ser)64135IFIH1Uncertain significancers202009944RCV000703155|RCV000997248; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191|MedGen:CN5172022163123994163123994CT2:g.163123994C>T-C3888244 615846 Aicardi-Goutieres syndrome 7;
NM_022168.4(IFIH1):c.2872G>A (p.Gly958Ser)64135IFIH1Uncertain significancers1466752669RCV000809018; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163124015163124015CT2:g.163124015C>T-
NM_022168.4(IFIH1):c.2863C>G (p.Gln955Glu)64135IFIH1Conflicting interpretations of pathogenicityrs144455277RCV000875928|RCV001573673; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191|MedGen:CN5172022163124024163124024GC2:g.163124024G>C-
NM_022168.4(IFIH1):c.2862T>G (p.Tyr954Ter)64135IFIH1Uncertain significance-1RCV001989882; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163124025163124025AC163124025-
NM_022168.4(IFIH1):c.2861A>G (p.Tyr954Cys)64135IFIH1Likely benign-1RCV002137012; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163124026163124026TC163124026-
NM_022168.4(IFIH1):c.2858A>G (p.Asp953Gly)64135IFIH1Uncertain significancers148623633RCV001308706|RCV001751591; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191|MedGen:CN5172022163124029163124029TC163124029-
NM_022168.4(IFIH1):c.2857G>A (p.Asp953Asn)64135IFIH1Uncertain significancers751417093RCV000820941|RCV001091996; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191|MedGen:CN5172022163124030163124030CT2:g.163124030C>T-
NM_022168.4(IFIH1):c.2850G>T (p.Lys950Asn)64135IFIH1Uncertain significance-1RCV001882226; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163124037163124037CA163124037-
NM_022168.4(IFIH1):c.2839C>T (p.Leu947=)64135IFIH1Likely benignrs931561363RCV000934372; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163124048163124048GA2:g.163124048G>A-
NM_022168.4(IFIH1):c.2836G>A (p.Ala946Thr)64135IFIH1Benignrs1990760RCV000245445|RCV001521987|RCV001618467|RCV001701912|RCV001701913; NMedGen:CN169374|MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191|MedGen:CN517202|MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51|MONDO:MONDO:0024535,MedGen:C4225427,OM2163124051163124051CTNC_000002.11:g.163124051C>TClinGen:CA1934058,UniProtKB:Q9BYX4#VAR_021595CN169374 not specified;
NM_022168.4(IFIH1):c.2831A>T (p.Asn944Ile)64135IFIH1Uncertain significancers1322389017RCV000823633; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163124056163124056TA2:g.163124056T>A-
NM_022168.4(IFIH1):c.2827G>T (p.Glu943Ter)64135IFIH1Uncertain significance-1RCV001866311; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163124060163124060CA163124060-
NM_022168.4(IFIH1):c.2820T>G (p.Ile940Met)64135IFIH1Uncertain significance-1RCV001964204; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163124067163124067AC163124067-
NM_022168.4(IFIH1):c.2819T>A (p.Ile940Asn)64135IFIH1Likely benign-1RCV002174230; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163124068163124068AT163124068-
NM_022168.4(IFIH1):c.2812del (p.Leu938fs)64135IFIH1Uncertain significance-1RCV001995399; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163124075163124075AGA163124074-
NM_022168.4(IFIH1):c.2812C>G (p.Leu938Val)64135IFIH1Uncertain significance-1RCV001984658; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163124075163124075GC163124075-
NM_022168.4(IFIH1):c.2811A>G (p.Glu937=)64135IFIH1Likely benign-1RCV002201584; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163124076163124076TC163124076-
NM_022168.4(IFIH1):c.2808-3T>C64135IFIH1Uncertain significancers1690950904RCV001316846; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163124082163124082AG163124082-
NM_022168.4(IFIH1):c.2808-16C>T64135IFIH1Likely benign-1RCV002148218; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163124095163124095GA163124095-
NM_022168.4(IFIH1):c.2808-18T>C64135IFIH1Likely benign-1RCV002126169; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163124097163124097AG163124097-
NM_022168.4(IFIH1):c.2807+20T>C64135IFIH1Likely benign-1RCV002119002; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163124577163124577AG163124577-
NM_022168.4(IFIH1):c.2807+14G>A64135IFIH1Likely benign-1RCV002173252; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163124583163124583CT163124583-
NM_022168.4(IFIH1):c.2807+1G>A64135IFIH1Benign/Likely benignrs35732034RCV000652102|RCV001775941|RCV001844209; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51|MedGen:CN517202|MedGen:CN306973,OMIM:6197732163124596163124596CTNC_000002.11:g.163124596C>TClinGen:CA1934075,OMIM:606951.0014C3888244 615846 Aicardi-Goutieres syndrome 7;
NM_022168.4(IFIH1):c.2796C>T (p.Thr932=)64135IFIH1Likely benign-1RCV001442606; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163124608163124608GA163124608-
NM_022168.4(IFIH1):c.2793G>A (p.Met931Ile)64135IFIH1Uncertain significancers1576220013RCV000823408; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163124611163124611CT2:g.163124611C>T-
NM_022168.4(IFIH1):c.2788A>C (p.Asn930His)64135IFIH1Uncertain significancers374202040RCV000706349|RCV001759420; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191|MedGen:CN5172022163124616163124616TG2:g.163124616T>G-C3888244 615846 Aicardi-Goutieres syndrome 7;
NM_022168.4(IFIH1):c.2788A>G (p.Asn930Asp)64135IFIH1Uncertain significancers374202040RCV001045701; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163124616163124616TC2:g.163124616T>C-
NM_022168.4(IFIH1):c.2785G>A (p.Val929Ile)64135IFIH1Benignrs140562355RCV000555941; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163124619163124619CT2:g.163124619C>TClinGen:CA1934078C3888244 615846 Aicardi-Goutieres syndrome 7;
NM_022168.4(IFIH1):c.2784C>T (p.His928=)64135IFIH1Benignrs145187664RCV000541082; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163124620163124620GANC_000002.11:g.163124620G>AClinGen:CA1934079C3888244 615846 Aicardi-Goutieres syndrome 7;
NM_022168.4(IFIH1):c.2780A>G (p.His927Arg)64135IFIH1Uncertain significancers747311719RCV000802320; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163124624163124624TC2:g.163124624T>C-
NM_022168.4(IFIH1):c.2780A>T (p.His927Leu)64135IFIH1Uncertain significance-1RCV001980763; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163124624163124624TA163124624-
NM_022168.4(IFIH1):c.2773A>G (p.Lys925Glu)64135IFIH1Uncertain significance-1RCV001877737; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163124631163124631TC163124631-
NM_022168.4(IFIH1):c.2771A>G (p.Glu924Gly)64135IFIH1Uncertain significancers1690960964RCV001343327; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163124633163124633TC163124633-
NM_022168.4(IFIH1):c.2770G>A (p.Glu924Lys)64135IFIH1Uncertain significance-1RCV001893018; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163124634163124634CT163124634-
NM_022168.4(IFIH1):c.2768T>C (p.Ile923Thr)64135IFIH1Uncertain significance-1RCV002021974; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163124636163124636AG163124636-
NM_022168.4(IFIH1):c.2767A>G (p.Ile923Val)64135IFIH1Benign/Likely benignrs35667974RCV000526497|RCV000594238|RCV001731776; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191|MedGen:CN169374|MedGen:CN5172022163124637163124637TCNC_000002.11:g.163124637T>CClinGen:CA1934084C3888244 615846 Aicardi-Goutieres syndrome 7;
NM_022168.4(IFIH1):c.2763T>C (p.His921=)64135IFIH1Likely benign-1RCV002114226; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163124641163124641AG163124641-
NM_022168.4(IFIH1):c.2761C>T (p.His921Tyr)64135IFIH1Uncertain significancers1291159972RCV001070689; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163124643163124643GA2:g.163124643G>A-
NM_022168.4(IFIH1):c.2759T>C (p.Ile920Thr)64135IFIH1Uncertain significancers748895438RCV001249830|RCV001879765; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51|MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163124645163124645AG2:g.163124645A>G-
NM_022168.4(IFIH1):c.2759T>A (p.Ile920Asn)64135IFIH1Uncertain significance-1RCV001980198; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163124645163124645AT163124645-
NM_022168.4(IFIH1):c.2751G>T (p.Gly917=)64135IFIH1Uncertain significance-1RCV001894463; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163124653163124653CA163124653-
NM_022168.4(IFIH1):c.2750G>A (p.Gly917Glu)64135IFIH1Uncertain significance-1RCV002014788; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163124654163124654CT163124654-
NM_022168.4(IFIH1):c.2741C>T (p.Ala914Val)64135IFIH1Uncertain significance-1RCV001921163; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163124663163124663GA163124663-
NM_022168.4(IFIH1):c.2734G>C (p.Val912Leu)64135IFIH1Uncertain significance-1RCV002018208; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163124670163124670CG163124670-
NM_022168.4(IFIH1):c.2733T>C (p.Ser911=)64135IFIH1Conflicting interpretations of pathogenicityrs767453829RCV000768234; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163124671163124671AGNC_000002.11:g.163124671A>G-
NM_022168.4(IFIH1):c.2723A>T (p.Lys908Ile)64135IFIH1Uncertain significancers1690962335RCV001219091; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163124681163124681TA2:g.163124681T>A-
NM_022168.4(IFIH1):c.2716C>T (p.Leu906Phe)64135IFIH1Uncertain significancers1690962431RCV001301662; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163124688163124688GA163124688-
NM_022168.4(IFIH1):c.2714T>C (p.Phe905Ser)64135IFIH1Uncertain significance-1RCV001886848; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163124690163124690AG163124690-
NM_022168.4(IFIH1):c.2697C>T (p.Asn899=)64135IFIH1Likely benign-1RCV002218084; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163124707163124707GA163124707-
NM_022168.4(IFIH1):c.2697C>G (p.Asn899Lys)64135IFIH1Likely benign-1RCV002116325; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163124707163124707GC163124707-
NM_022168.4(IFIH1):c.2690A>G (p.Lys897Arg)64135IFIH1Uncertain significance-1RCV002006014; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163124714163124714TC163124714-
NM_022168.4(IFIH1):c.2684A>T (p.His895Leu)64135IFIH1Uncertain significancers948646167RCV001313560; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163124720163124720TA163124720-
NM_022168.4(IFIH1):c.2682G>A (p.Lys894=)64135IFIH1Benignrs374488772RCV000873794|RCV001796293; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51|MedGen:CN5172022163124722163124722CT2:g.163124722C>T-
NM_022168.4(IFIH1):c.2665A>T (p.Lys889Ter)64135IFIH1Uncertain significance-1RCV001843699|RCV001869858; NMedGen:CN306973,OMIM:619773|MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163124739163124739TA163124739OMIM:606951.0012
NM_022168.4(IFIH1):c.2664C>G (p.Thr888=)64135IFIH1Likely benign-1RCV002194022; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163124740163124740GC163124740-
NM_022168.4(IFIH1):c.2658G>A (p.Met886Ile)64135IFIH1Uncertain significance-1RCV001923145; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163124746163124746CT163124746-
NM_022168.4(IFIH1):c.2657T>C (p.Met886Thr)64135IFIH1Uncertain significancers748688202RCV000805031; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163124747163124747AG2:g.163124747A>G-
NM_022168.4(IFIH1):c.2652G>A (p.Lys884=)64135IFIH1Likely benign-1RCV001912809; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163124752163124752CT163124752-
NM_022168.4(IFIH1):c.2645T>C (p.Met882Thr)64135IFIH1Uncertain significance-1RCV001994032; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163124759163124759AG163124759-
NM_022168.4(IFIH1):c.2644A>C (p.Met882Leu)64135IFIH1Uncertain significance-1RCV002047900; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163124760163124760TG163124760-
NM_022168.4(IFIH1):c.2642T>C (p.Ile881Thr)64135IFIH1Uncertain significancers745487097RCV001067279; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163124762163124762AG2:g.163124762A>G-
NM_022168.4(IFIH1):c.2641A>G (p.Ile881Val)64135IFIH1Uncertain significancers1169761887RCV001045483; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163124763163124763TC2:g.163124763T>C-
NM_022168.4(IFIH1):c.2638A>C (p.Ser880Arg)64135IFIH1Uncertain significance-1RCV002041580; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163124766163124766TG163124766-
NM_022168.4(IFIH1):c.2622G>C (p.Leu874Phe)64135IFIH1Uncertain significance-1RCV001940038; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163124782163124782CG163124782-
NM_022168.4(IFIH1):c.2617-4C>T64135IFIH1Likely benign-1RCV001468029; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163124791163124791GA163124791-
NM_022168.4(IFIH1):c.2617-16T>G64135IFIH1Likely benign-1RCV002156968; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163124803163124803AC163124803-
NC_000002.11:g.(?_163128716)_(163134858_?)del64135IFIH1Uncertain significance-1RCV001989994; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163128716163134858nana-1-
NM_022168.4(IFIH1):c.2616+11T>C64135IFIH1Benign-1RCV001518559; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163128725163128725AG163128725-
NM_022168.4(IFIH1):c.2616+6G>T64135IFIH1Uncertain significancers761784724RCV000809883; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163128730163128730CA2:g.163128730C>A-
NM_022168.4(IFIH1):c.2616+6G>A64135IFIH1Uncertain significancers761784724RCV001057500; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163128730163128730CT2:g.163128730C>T-
NM_022168.4(IFIH1):c.2606A>G (p.Tyr869Cys)64135IFIH1Uncertain significance-1RCV002044096; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163128746163128746TC163128746-
NM_022168.4(IFIH1):c.2604G>T (p.Glu868Asp)64135IFIH1Uncertain significance-1RCV001924242; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163128748163128748CA163128748-
NM_022168.4(IFIH1):c.2604G>C (p.Glu868Asp)64135IFIH1Uncertain significance-1RCV001941336; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163128748163128748CG163128748-
NM_022168.4(IFIH1):c.2604G>A (p.Glu868=)64135IFIH1Likely benign-1RCV002201396; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163128748163128748CT163128748-
NM_022168.4(IFIH1):c.2601G>C (p.Glu867Asp)64135IFIH1Uncertain significance-1RCV001953234; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163128751163128751CG163128751-
NM_022168.4(IFIH1):c.2597C>T (p.Pro866Leu)64135IFIH1Conflicting interpretations of pathogenicityrs200833729RCV000652096|RCV001200143; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191|MedGen:CN5172022163128755163128755GA2:g.163128755G>AClinGen:CA1934139C3888244 615846 Aicardi-Goutieres syndrome 7;
NM_022168.4(IFIH1):c.2575C>G (p.His859Asp)64135IFIH1Uncertain significance-1RCV001948219; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163128777163128777GC163128777-
NM_022168.4(IFIH1):c.2573T>C (p.Ile858Thr)64135IFIH1Uncertain significance-1RCV001981102; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163128779163128779AG163128779-
NM_022168.4(IFIH1):c.2570C>G (p.Ala857Gly)64135IFIH1Uncertain significance-1RCV001894022; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163128782163128782GC163128782-
NM_022168.4(IFIH1):c.2569G>A (p.Ala857Thr)64135IFIH1Uncertain significancers768238624RCV001312514; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163128783163128783CT163128783-
NM_022168.4(IFIH1):c.2561T>G (p.Met854Arg)64135IFIH1Uncertain significancers138373022RCV001064935; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163128791163128791AC2:g.163128791A>C-
NM_022168.4(IFIH1):c.2558T>C (p.Met853Thr)64135IFIH1Uncertain significance-1RCV001566680|RCV001866003; NMedGen:CN517202|MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163128794163128794AG163128794-
NM_022168.4(IFIH1):c.2549G>C (p.Arg850Pro)64135IFIH1Uncertain significance-1RCV001966794; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163128803163128803CG163128803-
NM_022168.4(IFIH1):c.2549G>A (p.Arg850Gln)64135IFIH1Uncertain significance-1RCV001983559; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163128803163128803CT163128803-
NM_022168.4(IFIH1):c.2548C>T (p.Arg850Ter)64135IFIH1Uncertain significancers750804689RCV000808992; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163128804163128804GA2:g.163128804G>A-
NM_022168.4(IFIH1):c.2548C>A (p.Arg850=)64135IFIH1Likely benign-1RCV002205922; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163128804163128804GT163128804-
NM_022168.4(IFIH1):c.2528A>G (p.His843Arg)64135IFIH1Benignrs3747517RCV000253451|RCV000986842|RCV001521988|RCV001636819|RCV001701976; NMedGen:CN169374|MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191|MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191|MedGen:CN517202|MONDO:MONDO:0014367,MedGen:C38882442163128824163128824TC2:g.163128824T>CClinGen:CA1934151,UniProtKB:Q9BYX4#VAR_021594CN169374 not specified;
NM_022168.4(IFIH1):c.2524G>A (p.Glu842Lys)64135IFIH1Conflicting interpretations of pathogenicityrs79324540RCV000542562; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163128828163128828CTNC_000002.11:g.163128828C>TClinGen:CA1934154C3888244 615846 Aicardi-Goutieres syndrome 7;
NM_022168.4(IFIH1):c.2523C>T (p.Ile841=)64135IFIH1Likely benign-1RCV001473251; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163128829163128829GA163128829-
NM_022168.4(IFIH1):c.2506A>G (p.Ser836Gly)64135IFIH1Uncertain significancers777051409RCV001234552; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163128846163128846TC2:g.163128846T>C-
NC_000002.11:g.(?_163128856)_(163131721_?)del64135IFIH1Uncertain significance-1RCV001919070; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163128856163131721nana-1-
NM_022168.4(IFIH1):c.2493C>T (p.Val831=)64135IFIH1Likely benignrs1304689008RCV000938022|RCV001414019; NMedGen:CN517202|MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163128859163128859GA2:g.163128859G>A-
NM_022168.4(IFIH1):c.2491G>A (p.Val831Ile)64135IFIH1Likely benign-1RCV002144396; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163128861163128861CT163128861-
NM_022168.4(IFIH1):c.2490C>T (p.Tyr830=)64135IFIH1Likely benign-1RCV001464839; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163128862163128862GA163128862-
NM_022168.4(IFIH1):c.2478T>C (p.Asp826=)64135IFIH1Likely benign-1RCV002099076; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163128874163128874AG163128874-
NM_022168.4(IFIH1):c.2469C>T (p.Ala823=)64135IFIH1Benignrs13418718RCV000527700|RCV001527961; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191|MedGen:CN5172022163128883163128883GANC_000002.11:g.163128883G>AClinGen:CA1934163C3888244 615846 Aicardi-Goutieres syndrome 7;
NM_022168.4(IFIH1):c.2465G>A (p.Arg822Gln)64135IFIH1Pathogenicrs376048533RCV000169754|RCV000436896|RCV000789041|RCV000822311; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191|MedGen:CN517202|MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51|MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250,Orphan2163128887163128887CT2:g.163128887C>TClinGen:CA199234,UniProtKB:Q9BYX4#VAR_073666,OMIM:606951.0009CN517202 not provided;
NM_022168.4(IFIH1):c.2464C>T (p.Arg822Ter)64135IFIH1Uncertain significancers747926684RCV001215675; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163128888163128888GA2:g.163128888G>A-
NM_022168.4(IFIH1):c.2464C>A (p.Arg822=)64135IFIH1Likely benign-1RCV002072887; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163128888163128888GT163128888-
NM_022168.4(IFIH1):c.2459G>A (p.Arg820His)64135IFIH1Uncertain significancers74162087RCV000489685|RCV000549571; NMedGen:CN517202|MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163128893163128893CT2:g.163128893C>TClinGen:CA1934165C3888244 615846 Aicardi-Goutieres syndrome 7;
NM_022168.4(IFIH1):c.2459G>C (p.Arg820Pro)64135IFIH1Uncertain significancers74162087RCV000714853|RCV000714854; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51|MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163128893163128893CGNC_000002.11:g.163128893C>G-
NM_022168.4(IFIH1):c.2459G>T (p.Arg820Leu)64135IFIH1Uncertain significance-1RCV001912612; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163128893163128893CA163128893-
NM_022168.4(IFIH1):c.2456C>A (p.Ala819Asp)64135IFIH1Uncertain significancers200810568RCV000689004; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163128896163128896GT2:g.163128896G>T-C3888244 615846 Aicardi-Goutieres syndrome 7;
NM_022168.4(IFIH1):c.2455-6T>A64135IFIH1Uncertain significance-1RCV001764121|RCV001885062; NMedGen:CN517202|MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163128903163128903AT163128903-
NM_022168.4(IFIH1):c.2455-7T>A64135IFIH1Benignrs41399348RCV000534653|RCV001764617; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191|MedGen:CN5172022163128904163128904ATNC_000002.11:g.163128904A>TClinGen:CA1934168C3888244 615846 Aicardi-Goutieres syndrome 7;
NM_022168.4(IFIH1):c.2455-8G>A64135IFIH1Likely benign-1RCV001959379; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163128905163128905CT163128905-
NM_022168.4(IFIH1):c.2455-19G>A64135IFIH1Likely benign-1RCV002134887; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163128916163128916CT163128916-
NM_022168.4(IFIH1):c.2454+17C>G64135IFIH1Likely benign-1RCV002149059; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163130288163130288GC163130288-
NM_022168.4(IFIH1):c.2454+9A>G64135IFIH1Benignrs193149001RCV000876414; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163130296163130296TC2:g.163130296T>C-
NM_022168.4(IFIH1):c.2454+7T>A64135IFIH1Likely benign-1RCV001476271; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163130298163130298AT163130298-
NM_022168.4(IFIH1):c.2454+6T>C64135IFIH1Benignrs6748554RCV000548508|RCV001764616; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191|MedGen:CN5172022163130299163130299AGNC_000002.11:g.163130299A>GClinGen:CA1934186C3888244 615846 Aicardi-Goutieres syndrome 7;
NM_022168.4(IFIH1):c.2454+1G>T64135IFIH1Uncertain significance-1RCV001907571; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163130304163130304CA163130304-
NM_022168.4(IFIH1):c.2448G>A (p.Met816Ile)64135IFIH1Uncertain significance-1RCV001977745; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163130311163130311CT163130311-
NM_022168.4(IFIH1):c.2447del (p.Met816fs)64135IFIH1Uncertain significance-1RCV002022371; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163130312163130312CAC163130311-
NM_022168.4(IFIH1):c.2443G>C (p.Ala815Pro)64135IFIH1Uncertain significance-1RCV002013079; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163130316163130316CG163130316-
NM_022168.4(IFIH1):c.2435A>G (p.Asn812Ser)64135IFIH1Likely benignrs199638804RCV000876852; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163130324163130324TC2:g.163130324T>C-
NM_022168.4(IFIH1):c.2428G>A (p.Val810Ile)64135IFIH1Uncertain significancers763479773RCV001063411; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163130331163130331CT2:g.163130331C>T-
NM_022168.4(IFIH1):c.2427C>G (p.Leu809=)64135IFIH1Likely benignrs74162086RCV000875892|RCV001488368; NMedGen:CN517202|MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163130332163130332GC2:g.163130332G>C-
NM_022168.4(IFIH1):c.2427C>T (p.Leu809=)64135IFIH1Likely benignrs74162086RCV000881493|RCV001429600; NMedGen:CN517202|MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163130332163130332GA2:g.163130332G>A-
NM_022168.4(IFIH1):c.2421T>C (p.Tyr807=)64135IFIH1Likely benign-1RCV002196331; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163130338163130338AG163130338-
NM_022168.4(IFIH1):c.2420A>G (p.Tyr807Cys)64135IFIH1Uncertain significancers752226580RCV001301235; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163130339163130339TC163130339-
NM_022168.4(IFIH1):c.2417G>A (p.Arg806His)64135IFIH1Uncertain significance-1RCV001725894|RCV002032698; NMedGen:CN517202|MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163130342163130342CT163130342-
NM_022168.4(IFIH1):c.2416C>T (p.Arg806Cys)64135IFIH1Uncertain significancers144341455RCV001213296; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163130343163130343GA2:g.163130343G>A-
NM_022168.4(IFIH1):c.2414T>G (p.Ile805Ser)64135IFIH1Uncertain significancers753623939RCV001248653; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163130345163130345AC2:g.163130345A>C-
NM_022168.4(IFIH1):c.2413A>T (p.Ile805Phe)64135IFIH1Uncertain significancers1691095136RCV001229594; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163130346163130346TA2:g.163130346T>A-
NM_022168.4(IFIH1):c.2408T>C (p.Ile803Thr)64135IFIH1Uncertain significancers778884536RCV001322367; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163130351163130351AG163130351-
NM_022168.4(IFIH1):c.2402G>A (p.Cys801Tyr)64135IFIH1Conflicting interpretations of pathogenicityrs1576222807RCV000986843|RCV001222113; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191|MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163130357163130357CT2:g.163130357C>T-
NM_022168.4(IFIH1):c.2398G>T (p.Glu800Ter)64135IFIH1Uncertain significance-1RCV001767256|RCV001882867; NMedGen:CN517202|MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163130361163130361CA163130361-
NM_022168.4(IFIH1):c.2397A>G (p.Lys799=)64135IFIH1Likely benign-1RCV001949531; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163130362163130362TC163130362-
NM_022168.4(IFIH1):c.2392A>G (p.Ile798Val)64135IFIH1Uncertain significancers758387388RCV001067460; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163130367163130367TC2:g.163130367T>C-
NM_022168.4(IFIH1):c.2383G>A (p.Gly795Ser)64135IFIH1Uncertain significance-1RCV002024292; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163130376163130376CT163130376-
NM_022168.4(IFIH1):c.2368A>G (p.Thr790Ala)64135IFIH1Uncertain significance-1RCV002012759; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163130391163130391TC163130391-
NM_022168.4(IFIH1):c.2366C>T (p.Thr789Ile)64135IFIH1Likely benignrs778200491RCV000874067; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163130393163130393GA2:g.163130393G>A-
NM_022168.4(IFIH1):c.2362G>A (p.Ala788Thr)64135IFIH1Conflicting interpretations of pathogenicityrs148369169RCV001027787; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163130397163130397CTNC_000002.11:g.163130397C>TClinGen:CA1934212C3888244 615846 Aicardi-Goutieres syndrome 7;
NM_022168.4(IFIH1):c.2361C>T (p.Ile787=)64135IFIH1Likely benignrs35677292RCV000652106; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163130398163130398GA2:g.163130398G>AClinGen:CA1934213C3888244 615846 Aicardi-Goutieres syndrome 7;
NM_022168.4(IFIH1):c.2356C>T (p.Leu786Phe)64135IFIH1Uncertain significance-1RCV001948004; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163130403163130403GA163130403-
NM_022168.4(IFIH1):c.2345A>G (p.Lys782Arg)64135IFIH1Uncertain significance-1RCV001997161; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163130414163130414TC163130414-
NM_022168.4(IFIH1):c.2336G>A (p.Arg779His)64135IFIH1Pathogenic/Likely pathogenicrs587777446RCV000125471|RCV000412770|RCV000626957|RCV000763454|RCV001770100; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51|MedGen:CN517202|7 conditions|MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191|MONDO:MONDO:0024535,MedGen:C4225427,OMIM:2163130423163130423CT2:g.163130423C>TClinGen:CA163190,UniProtKB:Q9BYX4#VAR_071382,OMIM:606951.0002C4025723 Abnormal upper motor neuron morphology;
NM_022168.4(IFIH1):c.2335C>T (p.Arg779Cys)64135IFIH1Pathogenicrs587777448RCV000125473|RCV000255113|RCV001382400; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51|MedGen:CN517202|MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163130424163130424GA2:g.163130424G>AClinGen:CA163192,UniProtKB:Q9BYX4#VAR_071381,OMIM:606951.0004C3888244 615846 Aicardi-Goutieres syndrome 7;
NM_022168.4(IFIH1):c.2334T>G (p.Phe778Leu)64135IFIH1Uncertain significance-1RCV001979557; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163130425163130425AC163130425-
NM_022168.4(IFIH1):c.2334T>C (p.Phe778=)64135IFIH1Likely benign-1RCV002193919; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163130425163130425AG163130425-
NM_022168.4(IFIH1):c.2330A>G (p.Lys777Arg)64135IFIH1Uncertain significance-1RCV002043367; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163130429163130429TC163130429-
NM_022168.4(IFIH1):c.2324_2326del (p.Ile775del)64135IFIH1Uncertain significance-1RCV001898559; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163130433163130435CTAAC163130432-
NM_022168.4(IFIH1):c.2321_2323delinsGTT (p.Val774_Ile775delinsGlyPhe)64135IFIH1Uncertain significance-1RCV001787578|RCV002034635; NMedGen:CN517202|MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163130436163130438TGAAAC163130436-
NM_022168.4(IFIH1):c.2323A>G (p.Ile775Val)64135IFIH1Uncertain significance-1RCV001996275; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163130436163130436TC163130436-
NM_022168.4(IFIH1):c.2317G>T (p.Glu773Ter)64135IFIH1Uncertain significance-1RCV001362650; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163130442163130442CA163130442-
NM_022168.4(IFIH1):c.2317del (p.Glu773fs)64135IFIH1Likely benign-1RCV001423781; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163130442163130442TCT163130441-
NM_022168.4(IFIH1):c.2316A>T (p.Lys772Asn)64135IFIH1Uncertain significancers761635157RCV001296222; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163130443163130443TA163130443-
NM_022168.4(IFIH1):c.2313A>G (p.Gln771=)64135IFIH1Likely benign-1RCV002072636; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163130446163130446TC163130446-
NM_022168.4(IFIH1):c.2305-2A>G64135IFIH1Uncertain significancers199696786RCV001346458; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163130456163130456TC163130456-
NM_022168.4(IFIH1):c.2305-3C>T64135IFIH1Uncertain significance-1RCV001988318; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163130457163130457GA163130457-
NM_022168.4(IFIH1):c.2305-10G>A64135IFIH1Likely benign-1RCV002113425; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163130464163130464CT163130464-
NM_022168.4(IFIH1):c.2305-13A>G64135IFIH1Uncertain significance-1RCV001925510; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163130467163130467TC163130467-
NM_022168.4(IFIH1):c.2305-18A>T64135IFIH1Likely benign-1RCV002157936; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163130472163130472TA163130472-
NM_022168.4(IFIH1):c.2305-19T>C64135IFIH1Benign-1RCV001512467|RCV001762708; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191|MedGen:CN5172022163130473163130473AG163130473-
NM_022168.4(IFIH1):c.2304+20C>T64135IFIH1Benign-1RCV002134704; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163133177163133177GA163133177-
NM_022168.4(IFIH1):c.2304+12C>A64135IFIH1Likely benign-1RCV002202589; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163133185163133185GT163133185-
NM_022168.4(IFIH1):c.2304+3A>G64135IFIH1Likely benignrs376806735RCV000874299; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163133194163133194TC2:g.163133194T>C-
NM_022168.4(IFIH1):c.2300C>T (p.Thr767Ile)64135IFIH1Uncertain significance-1RCV002009037; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163133201163133201GA163133201-
NM_022168.4(IFIH1):c.2299del (p.Thr767fs)64135IFIH1Uncertain significancers759430873RCV001236460; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163133202163133202GTG2:g.163133202_163133202del-
NM_022168.4(IFIH1):c.2299A>G (p.Thr767Ala)64135IFIH1Uncertain significance-1RCV001659101|RCV002032643; NMedGen:CN517202|MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163133202163133202TC163133202-
NM_022168.4(IFIH1):c.2295C>A (p.Pro765=)64135IFIH1Likely benignrs769746385RCV000873588; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163133206163133206GT2:g.163133206G>T-
NM_022168.4(IFIH1):c.2294C>T (p.Pro765Leu)64135IFIH1Uncertain significance-1RCV001872348; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163133207163133207GA163133207-
NM_022168.4(IFIH1):c.2293C>T (p.Pro765Ser)64135IFIH1Uncertain significance-1RCV001976741; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163133208163133208GA163133208-
NM_022168.4(IFIH1):c.2282G>A (p.Ser761Asn)64135IFIH1Uncertain significancers1649189149RCV001324224; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163133219163133219CT163133219-
NM_022168.4(IFIH1):c.2274A>C (p.Gly758=)64135IFIH1Likely benign-1RCV002175359; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163133227163133227TG163133227-
NM_022168.4(IFIH1):c.2268A>G (p.Gly756=)64135IFIH1Likely benign-1RCV001468297; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163133233163133233TC163133233-
NM_022168.4(IFIH1):c.2259T>G (p.His753Gln)64135IFIH1Uncertain significancers1682675340RCV001060983; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163133242163133242AC2:g.163133242A>C-
NM_022168.4(IFIH1):c.2256C>T (p.His752=)64135IFIH1Likely benign-1RCV002134815; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163133245163133245GA163133245-
NM_022168.4(IFIH1):c.2242G>A (p.Gly748Arg)64135IFIH1Uncertain significance-1RCV001948205; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163133259163133259CT163133259-
NM_022168.4(IFIH1):c.2239G>A (p.Val747Ile)64135IFIH1Benignrs200389061RCV000954805; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163133262163133262CT2:g.163133262C>T-
NM_022168.4(IFIH1):c.2232T>A (p.Phe744Leu)64135IFIH1Likely benignrs201142986RCV000954826|RCV001413051; NMedGen:CN517202|MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163133269163133269AT2:g.163133269A>T-
NM_022168.4(IFIH1):c.2224G>A (p.Glu742Lys)64135IFIH1Likely benign-1RCV002121131; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163133277163133277CT163133277-
NM_022168.4(IFIH1):c.2223T>C (p.Asn741=)64135IFIH1Likely benign-1RCV002155833; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163133278163133278AG163133278-
NM_022168.4(IFIH1):c.2216_2222del (p.Thr739fs)64135IFIH1Uncertain significancers745948096RCV001038982; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163133279163133285ATTTTCAGA2:g.163133279_163133285del-
NM_022168.4(IFIH1):c.2203T>G (p.Ser735Ala)64135IFIH1Uncertain significance-1RCV001880517; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163133298163133298AC163133298-
NM_022168.4(IFIH1):c.2198C>T (p.Ala733Val)64135IFIH1Uncertain significancers200251981RCV001327845; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163133303163133303GA163133303-
NM_022168.4(IFIH1):c.2196T>C (p.Tyr732=)64135IFIH1Likely benignrs147175706RCV000533877; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163133305163133305AGNC_000002.11:g.163133305A>GClinGen:CA1934269C3888244 615846 Aicardi-Goutieres syndrome 7;
NM_022168.4(IFIH1):c.2192C>T (p.Ala731Val)64135IFIH1Uncertain significance-1RCV001932620; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163133309163133309GA163133309-
NM_022168.4(IFIH1):c.2191G>T (p.Ala731Ser)64135IFIH1Uncertain significancers774309855RCV001053200; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163133310163133310CA2:g.163133310C>A-
NM_022168.4(IFIH1):c.2189G>A (p.Ser730Asn)64135IFIH1Uncertain significance-1RCV002040925; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163133312163133312CT163133312-
NM_022168.4(IFIH1):c.2183G>A (p.Arg728Gln)64135IFIH1Uncertain significance-1RCV001901711; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163133318163133318CT163133318-
NM_022168.4(IFIH1):c.2182C>T (p.Arg728Ter)64135IFIH1Uncertain significancers201193151RCV001337151; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163133319163133319GA163133319-
NM_022168.4(IFIH1):c.2161G>C (p.Gly721Arg)64135IFIH1Uncertain significance-1RCV002042171; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163133340163133340CG163133340-
NM_022168.4(IFIH1):c.2159G>A (p.Arg720Gln)64135IFIH1Pathogenicrs587777445RCV000125470|RCV001849907; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51|MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163133342163133342CT2:g.163133342C>TClinGen:CA163189,UniProtKB:Q9BYX4#VAR_071380,OMIM:606951.0001C3888244 615846 Aicardi-Goutieres syndrome 7;
NM_022168.4(IFIH1):c.2158C>G (p.Arg720Gly)64135IFIH1Uncertain significancers761864966RCV001323647; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163133343163133343GC163133343-
NM_022168.4(IFIH1):c.2152T>C (p.Ser718Pro)64135IFIH1Uncertain significance-1RCV001973649; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163133349163133349AG163133349-
NM_022168.4(IFIH1):c.2151A>G (p.Glu717=)64135IFIH1Likely benign-1RCV002151101; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163133350163133350TC163133350-
NM_022168.4(IFIH1):c.2142G>A (p.Arg714=)64135IFIH1Likely benign-1RCV002179689; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163133359163133359CT163133359-
NM_022168.4(IFIH1):c.2138C>G (p.Thr713Ser)64135IFIH1Likely benignrs201841403RCV000875879; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163133363163133363GC2:g.163133363G>C-
NM_022168.4(IFIH1):c.2133A>G (p.Gln711=)64135IFIH1Likely benignrs368922101RCV000951874|RCV001401883; NMedGen:CN517202|MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163133368163133368TC2:g.163133368T>C-
NM_022168.4(IFIH1):c.2122A>G (p.Ile708Val)64135IFIH1Uncertain significancers370796923RCV000652099; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163133379163133379TC2:g.163133379T>CClinGen:CA1934287C3888244 615846 Aicardi-Goutieres syndrome 7;
NM_022168.4(IFIH1):c.2120C>A (p.Thr707Asn)64135IFIH1Uncertain significance-1RCV001927468; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163133381163133381GT163133381-
NM_022168.4(IFIH1):c.2115A>C (p.Arg705Ser)64135IFIH1Benignrs185928139RCV000878400; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163133386163133386TG2:g.163133386T>G-
NM_022168.4(IFIH1):c.2106C>A (p.Thr702=)64135IFIH1Likely benign-1RCV001448326; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163133395163133395GT163133395-
NM_022168.4(IFIH1):c.2105C>T (p.Thr702Ile)64135IFIH1Likely benignrs72650663RCV000652110|RCV001729676; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191|MedGen:CN5172022163133396163133396GA2:g.163133396G>AClinGen:CA1934291C3888244 615846 Aicardi-Goutieres syndrome 7;
NM_022168.4(IFIH1):c.2101del (p.Lys700_Leu701insTer)64135IFIH1Uncertain significancers1682679223RCV001071964; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163133400163133400AGA2:g.163133400_163133400del-
NM_022168.4(IFIH1):c.2090A>G (p.Glu697Gly)64135IFIH1Uncertain significance-1RCV001877250; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163133411163133411TC163133411-
NM_022168.4(IFIH1):c.2069T>C (p.Leu690Pro)64135IFIH1Likely benign-1RCV001356662|RCV001435850; NMedGen:CN169374|MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163133432163133432AG163133432-
NM_022168.4(IFIH1):c.2067G>T (p.Arg689Ser)64135IFIH1Conflicting interpretations of pathogenicityrs376420466RCV000203039|RCV001403271|RCV001786340; NMedGen:CN169374|MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51|MedGen:CN5172022163133434163133434CA2:g.163133434C>AClinGen:CA249244CN169374 not specified;
NM_022168.4(IFIH1):c.2067G>A (p.Arg689=)64135IFIH1Likely benignrs376420466RCV000913709|RCV001401062; NMedGen:CN517202|MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163133434163133434CT2:g.163133434C>T-
NM_022168.4(IFIH1):c.2067G>C (p.Arg689Ser)64135IFIH1Likely benignrs376420466RCV000981704|RCV001455048; NMedGen:CN517202|MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163133434163133434CG2:g.163133434C>G-
NM_022168.4(IFIH1):c.2052T>C (p.Asn684=)64135IFIH1Benign-1RCV001518125; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163133449163133449AG163133449-
NM_022168.4(IFIH1):c.2049C>T (p.Asn683=)64135IFIH1Likely benignrs753209427RCV000954807; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163133452163133452GA2:g.163133452G>A-
NM_022168.4(IFIH1):c.2045-1G>A64135IFIH1Uncertain significancers748813106RCV000788195|RCV000800550; NMedGen:CN517202|MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163133457163133457CT2:g.163133457C>T-
NM_022168.4(IFIH1):c.2045-1G>T64135IFIH1Uncertain significance-1RCV001968101; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163133457163133457CA163133457-
NM_022168.4(IFIH1):c.2044+20A>G64135IFIH1Likely benign-1RCV002200186; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163133905163133905TC163133905-
NM_022168.4(IFIH1):c.2044+18A>G64135IFIH1Likely benign-1RCV002074968; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163133907163133907TC163133907-
NM_022168.4(IFIH1):c.2044+2T>C64135IFIH1Uncertain significancers201026962RCV000652095; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163133923163133923AGNC_000002.11:g.163133923A>GClinGen:CA1934321C3888244 615846 Aicardi-Goutieres syndrome 7;
NM_022168.4(IFIH1):c.2043T>C (p.Phe681=)64135IFIH1Uncertain significance-1RCV001901080; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163133926163133926AG163133926-
NM_022168.4(IFIH1):c.2035_2036del (p.Leu679fs)64135IFIH1Uncertain significancers774076578RCV000790933|RCV000790934|RCV001063415; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51|MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191|MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163133933163133934TAAT2:g.163133933_163133934del-
NM_022168.4(IFIH1):c.2030T>C (p.Met677Thr)64135IFIH1Uncertain significancers1268091953RCV001337784; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163133939163133939AG163133939-
NM_022168.4(IFIH1):c.2027T>A (p.Leu676His)64135IFIH1Uncertain significance-1RCV001890843; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163133942163133942AT163133942-
NM_022168.4(IFIH1):c.2020_2023del (p.Arg674fs)64135IFIH1Likely benignrs569337014RCV000419118|RCV001088661; NMedGen:CN517202|MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163133946163133949AATCTA2:g.163133946_163133949delClinGen:CA1934327C3888244 615846 Aicardi-Goutieres syndrome 7;
NM_022168.4(IFIH1):c.2021G>C (p.Arg674Thr)64135IFIH1Uncertain significancers758006242RCV001323229; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163133948163133948CG163133948-
NM_022168.4(IFIH1):c.2019_2020del (p.Asp673fs)64135IFIH1Uncertain significance-1RCV001373304; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163133949163133950CTAC163133948-
NM_022168.4(IFIH1):c.2019T>C (p.Asp673=)64135IFIH1Likely benignrs779835794RCV000887668|RCV002065531; NMedGen:CN517202|MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163133950163133950AG2:g.163133950A>G-
NM_022168.4(IFIH1):c.2017G>A (p.Asp673Asn)64135IFIH1Uncertain significancers746781048RCV001316085; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163133952163133952CT163133952-
NM_022168.4(IFIH1):c.2016del (p.Asp673fs)64135IFIH1Conflicting interpretations of pathogenicityrs773033563RCV000704039|RCV000986844|RCV001091997|RCV001731900|RCV001844227|RCV001779064; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191|MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191|MedGen:CN517202|MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846,Orp2163133953163133953CTC2:g.163133953_163133953delOMIM:606951.0013C3888244 615846 Aicardi-Goutieres syndrome 7;
NM_022168.4(IFIH1):c.2015C>T (p.Thr672Ile)64135IFIH1Uncertain significance-1RCV002005356; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163133954163133954GA163133954-
NM_022168.4(IFIH1):c.2012A>G (p.Glu671Gly)64135IFIH1Uncertain significance-1RCV001983666; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163133957163133957TC163133957-
NM_022168.4(IFIH1):c.2008G>A (p.Asp670Asn)64135IFIH1Uncertain significance-1RCV001892840; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163133961163133961CT163133961-
NM_022168.4(IFIH1):c.1996C>T (p.Pro666Ser)64135IFIH1Uncertain significancers376074455RCV000691811; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163133973163133973GA2:g.163133973G>A-C3888244 615846 Aicardi-Goutieres syndrome 7;
NM_022168.4(IFIH1):c.1996C>A (p.Pro666Thr)64135IFIH1Uncertain significancers376074455RCV001307474; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163133973163133973GT163133973-
NM_022168.4(IFIH1):c.1992G>T (p.Lys664Asn)64135IFIH1Uncertain significance-1RCV002208749; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163133977163133977CA163133977-
NM_022168.4(IFIH1):c.1983T>G (p.Asp661Glu)64135IFIH1Likely benign-1RCV002146923; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163133986163133986AC163133986-
NM_022168.4(IFIH1):c.1981G>A (p.Asp661Asn)64135IFIH1Uncertain significance-1RCV001370124; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163133988163133988CT163133988-
NM_022168.4(IFIH1):c.1980G>A (p.Glu660=)64135IFIH1Likely benign-1RCV001444163; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163133989163133989CT163133989-
NM_022168.4(IFIH1):c.1976A>C (p.Asp659Ala)64135IFIH1Uncertain significance-1RCV001990543; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163133993163133993TG163133993-
NM_022168.4(IFIH1):c.1976A>T (p.Asp659Val)64135IFIH1Uncertain significance-1RCV001987623; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163133993163133993TA163133993-
NM_022168.4(IFIH1):c.1968T>C (p.Gly656=)64135IFIH1Likely benign-1RCV002077095; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163134001163134001AG163134001-
NM_022168.4(IFIH1):c.1967G>T (p.Gly656Val)64135IFIH1Likely benign-1RCV002191800; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163134002163134002CA163134002-
NM_022168.4(IFIH1):c.1965T>A (p.Asp655Glu)64135IFIH1Likely benignrs144274375RCV000652105; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163134004163134004ATNC_000002.11:g.163134004A>TClinGen:CA1934340C3888244 615846 Aicardi-Goutieres syndrome 7;
NM_022168.4(IFIH1):c.1962T>G (p.Cys654Trp)64135IFIH1Uncertain significancers1682717892RCV001069923; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163134007163134007AC2:g.163134007A>C-
NM_022168.4(IFIH1):c.1960T>G (p.Cys654Gly)64135IFIH1Uncertain significance-1RCV001969296; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163134009163134009AC163134009-
NM_022168.4(IFIH1):c.1958A>G (p.Tyr653Cys)64135IFIH1Uncertain significance-1RCV001969170; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163134011163134011TC163134011-
NM_022168.4(IFIH1):c.1953T>A (p.Asp651Glu)64135IFIH1Uncertain significance-1RCV001867480; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163134016163134016AT163134016-
NM_022168.4(IFIH1):c.1950T>C (p.Asp650=)64135IFIH1Likely benign-1RCV001396197; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163134019163134019AG163134019-
NM_022168.4(IFIH1):c.1948G>A (p.Asp650Asn)64135IFIH1Uncertain significancers567418553RCV000822003; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163134021163134021CT2:g.163134021C>T-
NM_022168.4(IFIH1):c.1943del (p.Gly648fs)64135IFIH1Uncertain significance-1RCV001948648; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163134026163134026ACA163134025-
NM_022168.4(IFIH1):c.1932T>C (p.Asp644=)64135IFIH1Likely benign-1RCV001483347; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163134037163134037AG163134037-
NM_022168.4(IFIH1):c.1930G>A (p.Asp644Asn)64135IFIH1Conflicting interpretations of pathogenicityrs1553459020RCV000585413|RCV002061965; NMedGen:CN517202|MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163134039163134039CT2:g.163134039C>TClinGen:CA348998982CN517202 not provided;
NM_022168.4(IFIH1):c.1927G>T (p.Asp643Tyr)64135IFIH1Uncertain significancers376940981RCV001061099; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163134042163134042CA2:g.163134042C>A-
NM_022168.4(IFIH1):c.1922_1923del (p.Ile641fs)64135IFIH1Uncertain significance-1RCV001980673; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163134046163134047CTAC163134045-
NM_022168.4(IFIH1):c.1915G>A (p.Ala639Thr)64135IFIH1Likely benign-1RCV002205730; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163134054163134054CT163134054-
NM_022168.4(IFIH1):c.1912T>A (p.Phe638Ile)64135IFIH1Uncertain significancers1682719356RCV001352383; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163134057163134057AT163134057-
NM_022168.4(IFIH1):c.1909A>G (p.Lys637Glu)64135IFIH1Uncertain significance-1RCV001881077; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163134060163134060TC163134060-
NM_022168.4(IFIH1):c.1899G>T (p.Glu633Asp)64135IFIH1Benignrs550930413RCV000954703; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163134070163134070CA2:g.163134070C>A-
NM_022168.4(IFIH1):c.1889A>G (p.Tyr630Cys)64135IFIH1Uncertain significancers775623826RCV001209056; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163134080163134080TC2:g.163134080T>C-
NM_022168.4(IFIH1):c.1887C>T (p.Phe629=)64135IFIH1Likely benign-1RCV002130367; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163134082163134082GA163134082-
NM_022168.4(IFIH1):c.1886T>C (p.Phe629Ser)64135IFIH1Uncertain significancers200980825RCV000652092; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163134083163134083AGNC_000002.11:g.163134083A>GClinGen:CA1934358C3888244 615846 Aicardi-Goutieres syndrome 7;
NM_022168.4(IFIH1):c.1885T>G (p.Phe629Val)64135IFIH1Uncertain significancers145818112RCV001201757; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163134084163134084AC2:g.163134084A>C-
NM_022168.4(IFIH1):c.1885T>C (p.Phe629Leu)64135IFIH1Uncertain significance-1RCV001890977; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163134084163134084AG163134084-
NM_022168.4(IFIH1):c.1879G>T (p.Glu627Ter)64135IFIH1Conflicting interpretations of pathogenicityrs35744605RCV000430296|RCV001080055|RCV000986845|RCV001255983|RCV001262477; NMedGen:CN517202|MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191|MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191||MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846,Or2163134090163134090CA2:g.163134090C>AClinGen:CA1934360C3888244 615846 Aicardi-Goutieres syndrome 7;
NM_022168.4(IFIH1):c.1874A>T (p.His625Leu)64135IFIH1Uncertain significancers1682720062RCV001061083; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163134095163134095TA2:g.163134095T>A-
NM_022168.4(IFIH1):c.1866G>A (p.Ala622=)64135IFIH1Benignrs766027130RCV000873543; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163134103163134103CT2:g.163134103C>T-
NM_022168.4(IFIH1):c.1865C>T (p.Ala622Val)64135IFIH1Uncertain significancers186942719RCV000807287|RCV001811495; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51|MedGen:CN5172022163134104163134104GA2:g.163134104G>A-
NM_022168.4(IFIH1):c.1860A>G (p.Ile620Met)64135IFIH1Uncertain significancers752494417RCV000803807; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163134109163134109TC2:g.163134109T>C-
NM_022168.4(IFIH1):c.1855A>G (p.Met619Val)64135IFIH1Uncertain significancers375482697RCV001208107; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163134114163134114TC2:g.163134114T>C-
NM_022168.4(IFIH1):c.1853G>A (p.Arg618Gln)64135IFIH1Uncertain significancers200017837RCV001052922|RCV001091999; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51|MedGen:CN5172022163134116163134116CT2:g.163134116C>T-
NM_022168.4(IFIH1):c.1852C>T (p.Arg618Ter)64135IFIH1Conflicting interpretations of pathogenicity-1RCV001530186|RCV001873746; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51|MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163134117163134117GA163134117-
NM_022168.4(IFIH1):c.1837A>G (p.Ile613Val)64135IFIH1Uncertain significance-1RCV001934090; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163134132163134132TC163134132-
NM_022168.4(IFIH1):c.1818G>C (p.Lys606Asn)64135IFIH1Uncertain significance-1RCV001864035; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163134151163134151CG163134151-
NM_022168.4(IFIH1):c.1812G>A (p.Leu604=)64135IFIH1Benign-1RCV001513539; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163134157163134157CT163134157-
NM_022168.4(IFIH1):c.1806A>T (p.Glu602Asp)64135IFIH1Uncertain significancers763549486RCV000823357|RCV001196339; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51|MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163134163163134163TA2:g.163134163T>A-
NM_022168.4(IFIH1):c.1787_1797del (p.Lys596fs)64135IFIH1Uncertain significancers766039450RCV000768232; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163134172163134182AAACACGTTCTTANC_000002.11:g.163134172_163134182del-
NM_022168.4(IFIH1):c.1797T>C (p.Val599=)64135IFIH1Likely benign-1RCV002205936; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163134172163134172AG163134172-
NM_022168.4(IFIH1):c.1793G>A (p.Arg598His)64135IFIH1Uncertain significancers200945986RCV000662136|RCV000662135|RCV000688834; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191|MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51|MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163134176163134176CT2:g.163134176C>T-C3888244 615846 Aicardi-Goutieres syndrome 7;
NM_022168.4(IFIH1):c.1789G>A (p.Glu597Lys)64135IFIH1Uncertain significancers963903258RCV001229641; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163134180163134180CT2:g.163134180C>T-
NM_022168.4(IFIH1):c.1784G>A (p.Arg595His)64135IFIH1Uncertain significance-1RCV001363455; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163134185163134185CT163134185-
NM_022168.4(IFIH1):c.1783C>T (p.Arg595Cys)64135IFIH1Uncertain significance-1RCV002026768; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163134186163134186GA163134186-
NM_022168.4(IFIH1):c.1773A>G (p.Lys591=)64135IFIH1Likely benign-1RCV002116668; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163134196163134196TC163134196-
NM_022168.4(IFIH1):c.1769C>G (p.Ala590Gly)64135IFIH1Uncertain significance-1RCV001966669; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163134200163134200GC163134200-
NM_022168.4(IFIH1):c.1766C>A (p.Ala589Asp)64135IFIH1Likely benignrs145792185RCV000945675; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163134203163134203GT2:g.163134203G>T-
NM_022168.4(IFIH1):c.1766-3C>T64135IFIH1Uncertain significancers183649893RCV001205416; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163134206163134206GA2:g.163134206G>A-
NM_022168.4(IFIH1):c.1766-11dup64135IFIH1Likely benignrs548261817RCV000960735; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163134208163134209GGA2:g.163134208_163134209insA-
NM_022168.4(IFIH1):c.1766-6del64135IFIH1Benignrs548261817RCV000885818; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163134209163134209GAG2:g.163134209_163134209del-
NM_022168.4(IFIH1):c.1766-9T>C64135IFIH1Likely benign-1RCV001414227; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163134212163134212AG163134212-
NM_022168.4(IFIH1):c.1766-15T>C64135IFIH1Likely benign-1RCV002200661; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163134218163134218AG163134218-
NM_022168.4(IFIH1):c.1766-20C>T64135IFIH1Likely benign-1RCV002196900; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163134223163134223GA163134223-
NM_022168.4(IFIH1):c.1765+9G>A64135IFIH1Likely benign-1RCV001474581; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163134706163134706CT163134706-
NM_022168.4(IFIH1):c.1765+5T>G64135IFIH1Uncertain significance-1RCV002022628; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163134710163134710AC163134710-
NM_022168.4(IFIH1):c.1765+1del64135IFIH1Uncertain significancers1227440828RCV001231558; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163134714163134714ACA2:g.163134714_163134714del-
NM_022168.4(IFIH1):c.1765+1G>A64135IFIH1Uncertain significance-1RCV001914567; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163134714163134714CT163134714-
NM_022168.4(IFIH1):c.1764dup (p.Ala589fs)64135IFIH1Conflicting interpretations of pathogenicityrs553669430RCV000652114|RCV001766414; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51|MedGen:CN5172022163134715163134716CCTNC_000002.11:g.163134716dupClinGen:CA1934418C3888244 615846 Aicardi-Goutieres syndrome 7;
NM_022168.4(IFIH1):c.1765G>A (p.Ala589Thr)64135IFIH1Uncertain significancers150760072RCV001298097; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163134715163134715CT163134715-
NM_022168.4(IFIH1):c.1765G>T (p.Ala589Ser)64135IFIH1Uncertain significance-1RCV002028686; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163134715163134715CA163134715-
NM_022168.4(IFIH1):c.1764del (p.Ala589fs)64135IFIH1Uncertain significancers553669430RCV001269324; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163134716163134716CTC2:g.163134716_163134716del-
NM_022168.4(IFIH1):c.1757A>G (p.Glu586Gly)64135IFIH1Likely benign-1RCV001956213; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163134723163134723TC163134723-
NM_022168.4(IFIH1):c.1745C>T (p.Ala582Val)64135IFIH1Uncertain significancers889262310RCV001056935; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163134735163134735GA2:g.163134735G>A-
NM_022168.4(IFIH1):c.1737A>G (p.Glu579=)64135IFIH1Likely benign-1RCV001452668; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163134743163134743TC163134743-
NM_022168.4(IFIH1):c.1726C>T (p.Gln576Ter)64135IFIH1Uncertain significance-1RCV001902728; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163134754163134754GA163134754-
NM_022168.4(IFIH1):c.1723A>G (p.Thr575Ala)64135IFIH1Benignrs138057665RCV000871358; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163134757163134757TC2:g.163134757T>C-
NM_022168.4(IFIH1):c.1716T>C (p.Asp572=)64135IFIH1Likely benign-1RCV002127744; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163134764163134764AG163134764-
NM_022168.4(IFIH1):c.1710G>A (p.Met570Ile)64135IFIH1Uncertain significancers776280813RCV001048366; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163134770163134770CT2:g.163134770C>T-
NM_022168.4(IFIH1):c.1708A>G (p.Met570Val)64135IFIH1Uncertain significance-1RCV001372895; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163134772163134772TC163134772-
NM_022168.4(IFIH1):c.1704del (p.Pro569fs)64135IFIH1Uncertain significancers1558866398RCV000689077; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163134776163134776GAGNC_000002.11:g.163134776del-C3888244 615846 Aicardi-Goutieres syndrome 7;
NM_022168.4(IFIH1):c.1701G>A (p.Met567Ile)64135IFIH1Uncertain significancers765060493RCV000768235; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163134779163134779CTNC_000002.11:g.163134779C>T-
NM_022168.4(IFIH1):c.1694G>T (p.Cys565Phe)64135IFIH1Uncertain significance-1RCV001910586; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163134786163134786CA163134786-
NM_022168.4(IFIH1):c.1692T>C (p.Tyr564=)64135IFIH1Likely benign-1RCV001412729; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163134788163134788AG163134788-
NM_022168.4(IFIH1):c.1689_1690del (p.Tyr564fs)64135IFIH1Uncertain significance-1RCV001890534; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163134790163134791TAAT163134789-
NM_022168.4(IFIH1):c.1687A>T (p.Thr563Ser)64135IFIH1Uncertain significance-1RCV002040701; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163134793163134793TA163134793-
NM_022168.4(IFIH1):c.1675A>C (p.Thr559Pro)64135IFIH1Uncertain significancers752832328RCV001322441; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163134805163134805TG163134805-
NM_022168.4(IFIH1):c.1672A>G (p.Met558Val)64135IFIH1Uncertain significance-1RCV001977639; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163134808163134808TC163134808-
NM_022168.4(IFIH1):c.1666G>A (p.Glu556Lys)64135IFIH1Uncertain significancers111732322RCV001221623; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163134814163134814CT2:g.163134814C>T-
NM_022168.4(IFIH1):c.1658A>T (p.Lys553Ile)64135IFIH1Uncertain significance-1RCV001944173; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163134822163134822TA163134822-
NM_022168.4(IFIH1):c.1654G>A (p.Glu552Lys)64135IFIH1Uncertain significance-1RCV002045083; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163134826163134826CT163134826-
NM_022168.4(IFIH1):c.1644T>C (p.Asp548=)64135IFIH1Likely benign-1RCV001464265; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163134836163134836AG163134836-
NM_022168.4(IFIH1):c.1642-1G>A64135IFIH1Uncertain significancers1682743875RCV001229162; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163134839163134839CT2:g.163134839C>T-
NM_022168.4(IFIH1):c.1642-8A>G64135IFIH1Likely benignrs772580594RCV000945971|RCV001796320; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191|MedGen:CN5172022163134846163134846TC2:g.163134846T>C-
NM_022168.4(IFIH1):c.1642-19G>A64135IFIH1Benign-1RCV001522842; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163134857163134857CT163134857-
NM_022168.4(IFIH1):c.1642-24_1642-19del64135IFIH1Uncertain significance-1RCV002036548; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163134857163134862ACTTATTA163134856-
NM_022168.4(IFIH1):c.1642-20A>C64135IFIH1Benign-1RCV002102254; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163134858163134858TG163134858-
NM_022168.4(IFIH1):c.1641+19A>G64135IFIH1Likely benign-1RCV002109901; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163136487163136487TC163136487-
NM_022168.4(IFIH1):c.1641+13T>C64135IFIH1Likely benign-1RCV001464872; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163136493163136493AG163136493-
NM_022168.4(IFIH1):c.1641+6G>A64135IFIH1Uncertain significance-1RCV002030482; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163136500163136500CT163136500-
NM_022168.4(IFIH1):c.1641+4T>C64135IFIH1Uncertain significance-1RCV001915950; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163136502163136502AG163136502-
NM_022168.4(IFIH1):c.1641+2T>C64135IFIH1Uncertain significancers747781178RCV001034759; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163136504163136504AG2:g.163136504A>G-
NM_022168.4(IFIH1):c.1641+1G>C64135IFIH1Conflicting interpretations of pathogenicityrs35337543RCV000245122|RCV000584843|RCV000545421|RCV001778865; NMedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51|MedGen:C53915342163136505163136505CGNC_000002.11:g.163136505C>GClinGen:CA1934468C3888244 615846 Aicardi-Goutieres syndrome 7;
NM_022168.4(IFIH1):c.1633A>G (p.Thr545Ala)64135IFIH1Uncertain significance-1RCV002009242; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163136514163136514TC163136514-
NM_022168.4(IFIH1):c.1625C>A (p.Ala542Glu)64135IFIH1Uncertain significance-1RCV002022684; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163136522163136522GT163136522-
NM_022168.4(IFIH1):c.1623T>C (p.Ile541=)64135IFIH1Benign-1RCV001512317; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163136524163136524AG163136524-
NM_022168.4(IFIH1):c.1620C>G (p.Ala540=)64135IFIH1Likely benign-1RCV002188267; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163136527163136527GC163136527-
NM_022168.4(IFIH1):c.1609A>G (p.Lys537Glu)64135IFIH1Uncertain significancers374396452RCV001296104; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163136538163136538TC163136538-
NM_022168.4(IFIH1):c.1605A>G (p.Pro535=)64135IFIH1Likely benign-1RCV002144058; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163136542163136542TC163136542-
NM_022168.4(IFIH1):c.1603C>A (p.Pro535Thr)64135IFIH1Uncertain significancers764183171RCV001300936; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163136544163136544GT163136544-
NM_022168.4(IFIH1):c.1603C>T (p.Pro535Ser)64135IFIH1Uncertain significance-1RCV001903924; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163136544163136544GA163136544-
NM_022168.4(IFIH1):c.1590C>G (p.Asn530Lys)64135IFIH1Uncertain significancers369245661RCV001341734; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163136557163136557GC163136557-
NM_022168.4(IFIH1):c.1589del (p.Asn530fs)64135IFIH1Uncertain significancers779192156RCV001039384; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163136558163136558GTG2:g.163136558_163136558del-
NM_022168.4(IFIH1):c.1584G>T (p.Leu528=)64135IFIH1Likely benign-1RCV002081033; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163136563163136563CA163136563-
NM_022168.4(IFIH1):c.1583T>G (p.Leu528Arg)64135IFIH1Likely benignrs142348767RCV000652103|RCV001726293; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191|MedGen:CN5172022163136564163136564ACNC_000002.11:g.163136564A>CClinGen:CA1934480C3888244 615846 Aicardi-Goutieres syndrome 7;
NM_022168.4(IFIH1):c.1574T>C (p.Leu525Pro)64135IFIH1Uncertain significance-1RCV001930000; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163136573163136573AG163136573-
NM_022168.4(IFIH1):c.1572C>T (p.Asn524=)64135IFIH1Likely benign-1RCV001442153; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163136575163136575GA163136575-
NM_022168.4(IFIH1):c.1569A>G (p.Glu523=)64135IFIH1Likely benign-1RCV002130005; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163136578163136578TC163136578-
NM_022168.4(IFIH1):c.1562T>C (p.Val521Ala)64135IFIH1Uncertain significance-1RCV002043886; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163136585163136585AG163136585-
NM_022168.4(IFIH1):c.1558A>G (p.Thr520Ala)64135IFIH1Uncertain significancers145641024RCV000513621|RCV001042225; NMedGen:CN517202|MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163136589163136589TC2:g.163136589T>CClinGen:CA1934486CN517202 not provided;
NM_022168.4(IFIH1):c.1552A>G (p.Ile518Val)64135IFIH1Uncertain significance-1RCV001368385; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163136595163136595TC163136595-
NM_022168.4(IFIH1):c.1551T>C (p.Thr517=)64135IFIH1Likely benign-1RCV002114132; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163136596163136596AG163136596-
NM_022168.4(IFIH1):c.1550C>T (p.Thr517Ile)64135IFIH1Uncertain significance-1RCV002043565; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163136597163136597GA163136597-
NM_022168.4(IFIH1):c.1535A>G (p.Asn512Ser)64135IFIH1Uncertain significancers370753836RCV001063071; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163136612163136612TC2:g.163136612T>C-
NM_022168.4(IFIH1):c.1534A>C (p.Asn512His)64135IFIH1Uncertain significance-1RCV001906825; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163136613163136613TG163136613-
NM_022168.4(IFIH1):c.1528T>C (p.Cys510Arg)64135IFIH1Uncertain significance-1RCV001885955; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163136619163136619AG163136619-
NM_022168.4(IFIH1):c.1527A>G (p.Leu509=)64135IFIH1Likely benign-1RCV001427791; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163136620163136620TC163136620-
NM_022168.4(IFIH1):c.1526T>G (p.Leu509Arg)64135IFIH1Uncertain significance-1RCV001881648; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163136621163136621AC163136621-
NM_022168.4(IFIH1):c.1525C>T (p.Leu509=)64135IFIH1Uncertain significance-1RCV002001612; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163136622163136622GA163136622-
NM_022168.4(IFIH1):c.1525-1G>A64135IFIH1Uncertain significance-1RCV001935765; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163136623163136623CT163136623-
NM_022168.4(IFIH1):c.1525-4C>T64135IFIH1Likely benign-1RCV001404127; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163136626163136626GA163136626-
NM_022168.4(IFIH1):c.1525-10T>C64135IFIH1Likely benign-1RCV001404608; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163136632163136632AG163136632-
NM_022168.4(IFIH1):c.1524+19T>C64135IFIH1Benign-1RCV002114579; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163137819163137819AG163137819-
NM_022168.4(IFIH1):c.1524+9T>C64135IFIH1Likely benign-1RCV001468447; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163137829163137829AG163137829-
NM_022168.4(IFIH1):c.1524+2T>G64135IFIH1Uncertain significancers865898522RCV000794613; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163137836163137836AC2:g.163137836A>C-
NM_022168.4(IFIH1):c.1524+1G>T64135IFIH1Uncertain significance-1RCV002035164; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163137837163137837CA163137837-
NM_022168.4(IFIH1):c.1518T>C (p.Ile506=)64135IFIH1Likely benign-1RCV002208305; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163137844163137844AG163137844-
NM_022168.4(IFIH1):c.1516A>G (p.Ile506Val)64135IFIH1Likely benign-1RCV001496287; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163137846163137846TC163137846-
NM_022168.4(IFIH1):c.1515C>G (p.His505Gln)64135IFIH1Uncertain significance-1RCV002005561; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163137847163137847GC163137847-
NM_022168.4(IFIH1):c.1510G>A (p.Glu504Lys)64135IFIH1Uncertain significancers772032662RCV001321838; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163137852163137852CT163137852-
NM_022168.4(IFIH1):c.1498G>A (p.Ala500Thr)64135IFIH1Uncertain significance-1RCV001367299; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163137864163137864CT163137864-
NM_022168.4(IFIH1):c.1491G>C (p.Thr497=)64135IFIH1Benign-1RCV001522622|RCV001597289; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191|MedGen:CN5172022163137871163137871CG163137871-
NM_022168.4(IFIH1):c.1491G>A (p.Thr497=)64135IFIH1Likely benign-1RCV002117149; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163137871163137871CT163137871-
NM_022168.4(IFIH1):c.1486G>A (p.Ala496Thr)64135IFIH1Uncertain significancers763096939RCV001035286; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163137876163137876CT2:g.163137876C>T-
NM_022168.4(IFIH1):c.1481G>T (p.Gly494Val)64135IFIH1Benignrs147000317RCV000873034; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163137881163137881CA2:g.163137881C>A-
NM_022168.4(IFIH1):c.1480G>A (p.Gly494Arg)64135IFIH1Uncertain significance-1RCV002039925; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163137882163137882CT163137882-
NM_022168.4(IFIH1):c.1475G>A (p.Gly492Asp)64135IFIH1Uncertain significancers1474848285RCV000821310; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163137887163137887CT2:g.163137887C>T-
NM_022168.4(IFIH1):c.1461A>G (p.Leu487=)64135IFIH1Likely benign-1RCV001476687; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163137901163137901TC163137901-
NM_022168.4(IFIH1):c.1457G>C (p.Gly486Ala)64135IFIH1Uncertain significancers141748480RCV001306132; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163137905163137905CG163137905-
NM_022168.4(IFIH1):c.1450_1451insATCCCCT (p.Ile484fs)64135IFIH1Uncertain significance-1RCV002006880; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163137911163137912AAAGGGGAT163137911-
NM_022168.4(IFIH1):c.1447_1448delinsGG (p.Gln483Gly)64135IFIH1Uncertain significance-1RCV002014796; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163137914163137915TGCC163137914-
NM_022168.4(IFIH1):c.1446T>C (p.Pro482=)64135IFIH1Likely benign-1RCV001449282; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163137916163137916AG163137916-
NM_022168.4(IFIH1):c.1446T>G (p.Pro482=)64135IFIH1Likely benign-1RCV002089220; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163137916163137916AC163137916-
NM_022168.4(IFIH1):c.1439C>A (p.Pro480His)64135IFIH1Uncertain significance-1RCV001916700; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163137923163137923GT163137923-
NM_022168.4(IFIH1):c.1432G>A (p.Val478Met)64135IFIH1Uncertain significancers1018712289RCV001352182; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163137930163137930CT163137930-
NM_022168.4(IFIH1):c.1429C>T (p.Pro477Ser)64135IFIH1Uncertain significance-1RCV001875377; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163137933163137933GA163137933-
NM_022168.4(IFIH1):c.1419del (p.Glu474fs)64135IFIH1Uncertain significance-1RCV002015793; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163137943163137943CTC163137942-
NM_022168.4(IFIH1):c.1407T>C (p.Asn469=)64135IFIH1Likely benignrs138740030RCV000876785; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163137955163137955AG2:g.163137955A>G-
NM_022168.4(IFIH1):c.1387A>T (p.Met463Leu)64135IFIH1Uncertain significance-1RCV001906756; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163137975163137975TA163137975-
NM_022168.4(IFIH1):c.1384T>G (p.Leu462Val)64135IFIH1Uncertain significance-1RCV001918805; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163137978163137978AC163137978-
NM_022168.4(IFIH1):c.1382A>G (p.Tyr461Cys)64135IFIH1Uncertain significance-1RCV002038639; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163137980163137980TC163137980-
NM_022168.4(IFIH1):c.1379A>G (p.His460Arg)64135IFIH1Benign-1RCV001522623|RCV001712944; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191|MedGen:CN5172022163137983163137983TC163137983-
NM_022168.4(IFIH1):c.1378_1379inv (p.His460Cys)64135IFIH1Uncertain significance-1RCV001913119; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163137983163137984TGCA163137983-
NM_022168.4(IFIH1):c.1377G>A (p.Arg459=)64135IFIH1Likely benign-1RCV002198286; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163137985163137985CT163137985-
NM_022168.4(IFIH1):c.1376G>A (p.Arg459Lys)64135IFIH1Uncertain significance-1RCV001946523; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163137986163137986CT163137986-
NM_022168.4(IFIH1):c.1368C>T (p.Asn456=)64135IFIH1Likely benign-1RCV001477293; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163137994163137994GA163137994-
NM_022168.4(IFIH1):c.1368C>G (p.Asn456Lys)64135IFIH1Uncertain significance-1RCV001937251; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163137994163137994GC163137994-
NM_022168.4(IFIH1):c.1365T>C (p.Asn455=)64135IFIH1Likely benign-1RCV001957224; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163137997163137997AG163137997-
NM_022168.4(IFIH1):c.1363A>G (p.Asn455Asp)64135IFIH1Uncertain significance-1RCV001997317; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163137999163137999TC163137999-
NM_022168.4(IFIH1):c.1358T>G (p.Val453Gly)64135IFIH1Uncertain significance-1RCV001372761; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163138004163138004AC163138004-
NM_022168.4(IFIH1):c.1357G>A (p.Val453Met)64135IFIH1Uncertain significancers367921237RCV001197910; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163138005163138005CT2:g.163138005C>T-
NM_022168.4(IFIH1):c.1357G>C (p.Val453Leu)64135IFIH1Uncertain significance-1RCV001839125|RCV001869851; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51|MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163138005163138005CG163138005-
NM_022168.4(IFIH1):c.1355C>A (p.Ala452Glu)64135IFIH1Uncertain significancers147642994RCV001341541; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163138007163138007GT163138007-
NM_022168.4(IFIH1):c.1353A>C (p.Glu451Asp)64135IFIH1Uncertain significancers764763183RCV001341487; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163138009163138009TG163138009-
NM_022168.4(IFIH1):c.1343C>T (p.Thr448Ile)64135IFIH1Uncertain significance-1RCV001867193; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163138019163138019GA163138019-
NM_022168.4(IFIH1):c.1321A>G (p.Ile441Val)64135IFIH1Uncertain significance-1RCV001968903; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163138041163138041TC163138041-
NM_022168.4(IFIH1):c.1312T>C (p.Ser438Pro)64135IFIH1Conflicting interpretations of pathogenicityrs139714761RCV000514732|RCV001086220; NMedGen:CN517202|MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163138050163138050AG2:g.163138050A>GClinGen:CA1934552C3888244 615846 Aicardi-Goutieres syndrome 7;
NM_022168.4(IFIH1):c.1307-17_1307-16del64135IFIH1Likely benign-1RCV002156684; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163138071163138072CAAC163138070-
NM_022168.4(IFIH1):c.1307-16del64135IFIH1Likely benign-1RCV002215252; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163138071163138071CAC163138070-
NM_022168.4(IFIH1):c.1307-19C>A64135IFIH1Likely benign-1RCV002179617; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163138074163138074GT163138074-
NM_022168.4(IFIH1):c.1306+16T>C64135IFIH1Likely benign-1RCV002198278; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163138860163138860AG163138860-
NM_022168.4(IFIH1):c.1306+6T>C64135IFIH1Uncertain significance-1RCV002019077; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163138870163138870AG163138870-
NM_022168.4(IFIH1):c.1303T>A (p.Ser435Thr)64135IFIH1Uncertain significancers1682826089RCV001037651; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163138879163138879AT2:g.163138879A>T-
NM_022168.4(IFIH1):c.1302G>A (p.Leu434=)64135IFIH1Likely benignrs1576227064RCV000877349; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163138880163138880CT2:g.163138880C>T-
NM_022168.4(IFIH1):c.1300T>C (p.Leu434=)64135IFIH1Likely benign-1RCV001463528; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163138882163138882AG163138882-
NM_022168.4(IFIH1):c.1294G>T (p.Val432Phe)64135IFIH1Uncertain significance-1RCV001904246; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163138888163138888CA163138888-
NM_022168.4(IFIH1):c.1293T>A (p.Gly431=)64135IFIH1Likely benign-1RCV002134803; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163138889163138889AT163138889-
NM_022168.4(IFIH1):c.1288G>T (p.Ala430Ser)64135IFIH1Uncertain significance-1RCV001960963; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163138894163138894CA163138894-
NM_022168.4(IFIH1):c.1271del (p.Leu424fs)64135IFIH1Uncertain significance-1RCV001989272; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163138911163138911CAC163138910-
NM_022168.4(IFIH1):c.1270T>G (p.Leu424Val)64135IFIH1Uncertain significance-1RCV002044465; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163138912163138912AC163138912-
NM_022168.4(IFIH1):c.1259C>T (p.Ser420Phe)64135IFIH1Uncertain significancers754807936RCV001224130; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163138923163138923GA2:g.163138923G>A-
NM_022168.4(IFIH1):c.1243C>A (p.Gln415Lys)64135IFIH1Uncertain significancers575678322RCV000652097; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163138939163138939GTNC_000002.11:g.163138939G>TClinGen:CA1934583C3888244 615846 Aicardi-Goutieres syndrome 7;
NM_022168.4(IFIH1):c.1240G>C (p.Ala414Pro)64135IFIH1Uncertain significance-1RCV001973344; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163138942163138942CG163138942-
NM_022168.4(IFIH1):c.1232T>C (p.Ile411Thr)64135IFIH1Uncertain significancers1682827216RCV001206959; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163138950163138950AG2:g.163138950A>G-
NM_022168.4(IFIH1):c.1222G>A (p.Asp408Asn)64135IFIH1Uncertain significancers148540097RCV001046941; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163138960163138960CT2:g.163138960C>T-
NM_022168.4(IFIH1):c.1219T>C (p.Cys407Arg)64135IFIH1Uncertain significance-1RCV002023523; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163138963163138963AG163138963-
NM_022168.4(IFIH1):c.1212C>A (p.Val404=)64135IFIH1Likely benign-1RCV002157250; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163138970163138970GT163138970-
NM_022168.4(IFIH1):c.1211T>C (p.Val404Ala)64135IFIH1Uncertain significance-1RCV002003705; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163138971163138971AG163138971-
NM_022168.4(IFIH1):c.1203A>G (p.Pro401=)64135IFIH1Likely benign-1RCV001458000; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163138979163138979TC163138979-
NM_022168.4(IFIH1):c.1196C>G (p.Ser399Ter)64135IFIH1Uncertain significance-1RCV001957319; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163138986163138986GC163138986-
NM_022168.4(IFIH1):c.1195T>C (p.Ser399Pro)64135IFIH1Uncertain significance-1RCV002042527; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163138987163138987AG163138987-
NM_022168.4(IFIH1):c.1191A>G (p.Lys397=)64135IFIH1Uncertain significance-1RCV001888082; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163138991163138991TC163138991-
NM_022168.4(IFIH1):c.1175G>A (p.Gly392Asp)64135IFIH1Uncertain significancers1304955037RCV001326830; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163139007163139007CT163139007-
NM_022168.4(IFIH1):c.1169T>G (p.Leu390Ter)64135IFIH1Uncertain significance-1RCV001880506; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163139013163139013AC163139013-
NM_022168.4(IFIH1):c.1166G>A (p.Gly389Glu)64135IFIH1Uncertain significancers765985079RCV000298018|RCV000764272; NMedGen:CN517202|MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163139016163139016CT2:g.163139016C>TClinGen:CA1934597CN169374 not specified;
NM_022168.4(IFIH1):c.1159G>A (p.Val387Ile)64135IFIH1Uncertain significance-1RCV001971521; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163139023163139023CT163139023-
NM_022168.4(IFIH1):c.1157G>A (p.Arg386His)64135IFIH1Uncertain significancers138611889RCV001253718|RCV001344499; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51|MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163139025163139025CT2:g.163139025C>T-
NM_022168.4(IFIH1):c.1157G>T (p.Arg386Leu)64135IFIH1Uncertain significance-1RCV001947416; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163139025163139025CA163139025-
NM_022168.4(IFIH1):c.1153T>C (p.Tyr385His)64135IFIH1Uncertain significancers1682829536RCV001067140; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163139029163139029AG2:g.163139029A>G-
NM_022168.4(IFIH1):c.1152G>A (p.Trp384Ter)64135IFIH1Uncertain significancers199917968RCV001306844; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163139030163139030CT163139030-
NM_022168.4(IFIH1):c.1151G>C (p.Trp384Ser)64135IFIH1Uncertain significance-1RCV001908470; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163139031163139031CG163139031-
NM_022168.4(IFIH1):c.1151G>A (p.Trp384Ter)64135IFIH1Likely benign-1RCV002106161; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163139031163139031CT163139031-
NM_022168.4(IFIH1):c.1142T>C (p.Leu381Ser)64135IFIH1Uncertain significancers764148204RCV000800371; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163139040163139040AG2:g.163139040A>G-
NM_022168.4(IFIH1):c.1137A>G (p.Pro379=)64135IFIH1Likely benign-1RCV002178781; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163139045163139045TC163139045-
NM_022168.4(IFIH1):c.1134A>T (p.Gln378His)64135IFIH1Uncertain significancers750443621RCV001297228; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163139048163139048TA163139048-
NM_022168.4(IFIH1):c.1134A>G (p.Gln378=)64135IFIH1Likely benign-1RCV001472488; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163139048163139048TC163139048-
NM_022168.4(IFIH1):c.1133A>G (p.Gln378Arg)64135IFIH1Uncertain significancers1682830281RCV001315524; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163139049163139049TC163139049-
NM_022168.4(IFIH1):c.1131C>T (p.Phe377=)64135IFIH1Likely benign-1RCV002175177; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163139051163139051GA163139051-
NM_022168.4(IFIH1):c.1121G>A (p.Arg374His)64135IFIH1Likely benignrs145520044RCV000487851|RCV001085647; NMedGen:CN517202|MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163139061163139061CT2:g.163139061C>TClinGen:CA1934606C3888244 615846 Aicardi-Goutieres syndrome 7;
NM_022168.4(IFIH1):c.1121G>T (p.Arg374Leu)64135IFIH1Uncertain significance-1RCV001898162; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163139061163139061CA163139061-
NM_022168.4(IFIH1):c.1120C>T (p.Arg374Cys)64135IFIH1Uncertain significancers113854430RCV001070569; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163139062163139062GA2:g.163139062G>A-
NM_022168.4(IFIH1):c.1118T>C (p.Phe373Ser)64135IFIH1Uncertain significance-1RCV001946280; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163139064163139064AG163139064-
NM_022168.4(IFIH1):c.1114C>G (p.Leu372Val)64135IFIH1Uncertain significance-1RCV002005750; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163139068163139068GC163139068-
NM_022168.4(IFIH1):c.1101G>C (p.Leu367=)64135IFIH1Likely benign-1RCV002101809; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163139081163139081CG163139081-
NM_022168.4(IFIH1):c.1099C>T (p.Leu367=)64135IFIH1Likely benign-1RCV002180498; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163139083163139083GA163139083-
NM_022168.4(IFIH1):c.1097T>A (p.Val366Glu)64135IFIH1Likely benignrs140977021RCV000652104; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163139085163139085ATNC_000002.11:g.163139085A>TClinGen:CA1934610C3888244 615846 Aicardi-Goutieres syndrome 7;
NM_022168.4(IFIH1):c.1096-3A>G64135IFIH1Likely benign-1RCV002128875; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163139089163139089TC163139089-
NM_022168.4(IFIH1):c.1096-4del64135IFIH1Benign-1RCV002220267; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163139090163139090TAT163139089-
NM_022168.4(IFIH1):c.1096-10T>A64135IFIH1Benign-1RCV002132007; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163139096163139096AT163139096-
NM_022168.4(IFIH1):c.1096-13A>G64135IFIH1Likely benign-1RCV002089148; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163139099163139099TC163139099-
NM_022168.4(IFIH1):c.1096-13A>C64135IFIH1Likely benign-1RCV002108895; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163139099163139099TG163139099-
NM_022168.4(IFIH1):c.1096-19A>G64135IFIH1Uncertain significance-1RCV001935443; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163139105163139105TC163139105-
NM_022168.4(IFIH1):c.1096-20A>G64135IFIH1Likely benign-1RCV002199221; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163139106163139106TC163139106-
NC_000002.12:g.(?_162288115)_(162288375_?)del64135IFIH1Uncertain significance-1RCV000652117; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163144625163144885nana-C3888244 615846 Aicardi-Goutieres syndrome 7;
NM_022168.4(IFIH1):c.1095+8A>G64135IFIH1Likely benign-1RCV002072464; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163144637163144637TC163144637-
NM_022168.4(IFIH1):c.1095+1G>T64135IFIH1Uncertain significancers140125523RCV000652101; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163144644163144644CANC_000002.11:g.163144644C>AClinGen:CA1934633C3888244 615846 Aicardi-Goutieres syndrome 7;
NM_022168.4(IFIH1):c.1093A>G (p.Lys365Glu)64135IFIH1Benign-1RCV001517044|RCV001843590; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51|MedGen:CN306973,OMIM:6197732163144647163144647TC163144647OMIM:606951.0011
NM_022168.4(IFIH1):c.1091A>G (p.Asn364Ser)64135IFIH1Uncertain significance-1RCV002042121; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163144649163144649TC163144649-
NM_022168.4(IFIH1):c.1069G>T (p.Gly357Ter)64135IFIH1Uncertain significancers768448518RCV001248031; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163144671163144671CA2:g.163144671C>A-
NM_022168.4(IFIH1):c.1066C>A (p.Pro356Thr)64135IFIH1Conflicting interpretations of pathogenicityrs150317197RCV001027786|RCV001255984|RCV001706698; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51||MedGen:CN5172022163144674163144674GTNC_000002.11:g.163144674G>TClinGen:CA1934639C3888244 615846 Aicardi-Goutieres syndrome 7;
NM_022168.4(IFIH1):c.1063G>A (p.Glu355Lys)64135IFIH1Uncertain significancers887114201RCV000699593; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163144677163144677CT2:g.163144677C>T-C3888244 615846 Aicardi-Goutieres syndrome 7;
NM_022168.4(IFIH1):c.1063G>T (p.Glu355Ter)64135IFIH1Uncertain significancers887114201RCV001070796; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163144677163144677CA2:g.163144677C>A-
NM_022168.4(IFIH1):c.1057G>A (p.Ala353Thr)64135IFIH1Uncertain significance-1RCV002038164; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163144683163144683CT163144683-
NM_022168.4(IFIH1):c.1051A>G (p.Lys351Glu)64135IFIH1Uncertain significancers35207787RCV001226508; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163144689163144689TC2:g.163144689T>C-
NM_022168.4(IFIH1):c.1046A>G (p.Lys349Arg)64135IFIH1Benignrs72650664RCV000652112|RCV001703226|RCV001726294; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191|MedGen:CN517202|MedGen:CN1693742163144694163144694TC2:g.163144694T>CClinGen:CA1934645C3888244 615846 Aicardi-Goutieres syndrome 7;
NM_022168.4(IFIH1):c.1046A>T (p.Lys349Met)64135IFIH1Uncertain significance-1RCV001369056; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163144694163144694TA163144694-
NM_022168.4(IFIH1):c.1041A>C (p.Leu347Phe)64135IFIH1Likely benignrs183412282RCV001257167|RCV001475480; NMedGen:CN517202|MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163144699163144699TG2:g.163144699T>G-
NM_022168.4(IFIH1):c.1032G>A (p.Lys344=)64135IFIH1Likely benignrs1057522887RCV000429255|RCV002059795; NMedGen:CN169374|MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163144708163144708CT2:g.163144708C>TClinGen:CA16603901CN169374 not specified;
NM_022168.4(IFIH1):c.1031A>G (p.Lys344Arg)64135IFIH1Uncertain significancers1682930814RCV001318841; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163144709163144709TC163144709-
NM_022168.4(IFIH1):c.1001G>T (p.Gly334Val)64135IFIH1Uncertain significance-1RCV002045065; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163144739163144739CA163144739-
NM_022168.4(IFIH1):c.996G>T (p.Gly332=)64135IFIH1Uncertain significancers1576229569RCV000814310; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163144744163144744CA2:g.163144744C>A-
NM_022168.4(IFIH1):c.988C>T (p.Pro330Ser)64135IFIH1Likely benignrs141848057RCV000963568; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163144752163144752GA2:g.163144752G>A-
NM_022168.4(IFIH1):c.987C>A (p.Leu329=)64135IFIH1Likely benign-1RCV001493908; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163144753163144753GT163144753-
NM_022168.4(IFIH1):c.986T>C (p.Leu329Pro)64135IFIH1Likely pathogenicrs923064561RCV000700416; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163144754163144754AGNC_000002.11:g.163144754A>G-C3888244 615846 Aicardi-Goutieres syndrome 7;
NM_022168.4(IFIH1):c.977T>C (p.Ile326Thr)64135IFIH1Uncertain significancers1682931491RCV001297332; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163144763163144763AG163144763-
NM_022168.4(IFIH1):c.975C>T (p.Ile325=)64135IFIH1Likely benign-1RCV002182658; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163144765163144765GA163144765-
NM_022168.4(IFIH1):c.973A>T (p.Ile325Phe)64135IFIH1Uncertain significance-1RCV001980849; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163144767163144767TA163144767-
NM_022168.4(IFIH1):c.966G>A (p.Gly322=)64135IFIH1Likely benignrs1414537811RCV000944768; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163144774163144774CT2:g.163144774C>T-
NM_022168.4(IFIH1):c.956C>G (p.Ala319Gly)64135IFIH1Uncertain significancers1682931873RCV001343418; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163144784163144784GC163144784-
NM_022168.4(IFIH1):c.949C>T (p.Gln317Ter)64135IFIH1Uncertain significancers74162079RCV000798473; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163144791163144791GA2:g.163144791G>A-
NM_022168.4(IFIH1):c.948C>A (p.Ala316=)64135IFIH1Likely benign-1RCV002074565; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163144792163144792GT163144792-
NM_022168.4(IFIH1):c.946G>T (p.Ala316Ser)64135IFIH1Uncertain significance-1RCV001359349; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163144794163144794CA163144794-
NM_022168.4(IFIH1):c.946G>A (p.Ala316Thr)64135IFIH1Uncertain significance-1RCV001902604; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163144794163144794CT163144794-
NM_022168.4(IFIH1):c.933C>A (p.Tyr311Ter)64135IFIH1Uncertain significancers1057520076RCV000437488|RCV001228685; NMedGen:CN517202|MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163144807163144807GT2:g.163144807G>TClinGen:CA16603194CN517202 not provided;
NM_022168.4(IFIH1):c.929del (p.Pro310fs)64135IFIH1Uncertain significance-1RCV001934938; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163144811163144811AGA163144810-
NM_022168.4(IFIH1):c.924C>T (p.Leu308=)64135IFIH1Likely benign-1RCV002206465; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163144816163144816GA163144816-
NM_022168.4(IFIH1):c.919C>T (p.Gln307Ter)64135IFIH1Uncertain significancers762821474RCV001245850|RCV002069312; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51|MedGen:CN5172022163144821163144821GA2:g.163144821G>A-
NM_022168.4(IFIH1):c.911C>T (p.Pro304Leu)64135IFIH1Uncertain significancers1682932788RCV001322659; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163144829163144829GA163144829-
NM_022168.4(IFIH1):c.906G>A (p.Pro302=)64135IFIH1Likely benignrs775441863RCV000875607|RCV001087071; NMedGen:CN517202|MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163144834163144834CT2:g.163144834C>T-
NM_022168.4(IFIH1):c.902C>T (p.Ser301Phe)64135IFIH1Uncertain significance-1RCV002043537; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163144838163144838GA163144838-
NM_022168.4(IFIH1):c.901T>A (p.Ser301Thr)64135IFIH1Likely benign-1RCV002178764; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163144839163144839AT163144839-
NM_022168.4(IFIH1):c.891A>C (p.Ala297=)64135IFIH1Likely benign-1RCV002187456; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163144849163144849TG163144849-
NM_022168.4(IFIH1):c.875A>G (p.Asp292Gly)64135IFIH1Uncertain significance-1RCV001361708; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163144865163144865TC163144865-
NM_022168.4(IFIH1):c.875-4T>C64135IFIH1Likely benign-1RCV002072740; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163144869163144869AG163144869-
NM_022168.4(IFIH1):c.875-11A>C64135IFIH1Benign-1RCV002139700; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163144876163144876TG163144876-
NM_022168.4(IFIH1):c.874+19G>A64135IFIH1Likely benign-1RCV002101870; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163150055163150055CT163150055-
NM_022168.4(IFIH1):c.866G>T (p.Ser289Ile)64135IFIH1Uncertain significance-1RCV001364637; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163150082163150082CA163150082-
NM_022168.4(IFIH1):c.864A>G (p.Gly288=)64135IFIH1Likely benign-1RCV001448082; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163150084163150084TC163150084-
NM_022168.4(IFIH1):c.858C>G (p.Thr286=)64135IFIH1Likely benign-1RCV001487055; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163150090163150090GC163150090-
NM_022168.4(IFIH1):c.828T>A (p.His276Gln)64135IFIH1Uncertain significance-1RCV002010545; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163150120163150120AT163150120-
NM_022168.4(IFIH1):c.818G>A (p.Ser273Asn)64135IFIH1Uncertain significancers1683037048RCV001308995; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163150130163150130CT163150130-
NM_022168.4(IFIH1):c.811G>T (p.Asp271Tyr)64135IFIH1Uncertain significance-1RCV002049073; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163150137163150137CA163150137-
NM_022168.4(IFIH1):c.802A>G (p.Ser268Gly)64135IFIH1Uncertain significance-1RCV001904665; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163150146163150146TC163150146-
NM_022168.4(IFIH1):c.770-10T>C64135IFIH1Uncertain significancers1683038128RCV001195904; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163150188163150188AG2:g.163150188A>G-
NM_022168.4(IFIH1):c.770-37ATATTTTAAAA[3]64135IFIH1Likely benign-1RCV002145568; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163150193163150194AATTTTAAAATAT163150193-
NM_022168.4(IFIH1):c.770-18A>C64135IFIH1Likely benign-1RCV002108620; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163150196163150196TG163150196-
NC_000002.11:g.(?_163163199)_(163163385_?)del64135IFIH1Uncertain significance-1RCV001955740; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163163199163163385nana-1-
NM_022168.4(IFIH1):c.769+18G>A64135IFIH1Likely benign-1RCV002168559; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163163201163163201CT163163201-
NM_022168.4(IFIH1):c.769+17C>T64135IFIH1Benign-1RCV002105602; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163163202163163202GA163163202-
NM_022168.4(IFIH1):c.769+16A>G64135IFIH1Likely benign-1RCV002077006; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163163203163163203TC163163203-
NM_022168.4(IFIH1):c.769+12A>T64135IFIH1Likely benign-1RCV002119992; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163163207163163207TA163163207-
NM_022168.4(IFIH1):c.769+4C>T64135IFIH1Uncertain significance-1RCV001921908; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163163215163163215GA163163215-
NM_022168.4(IFIH1):c.769+3A>G64135IFIH1Uncertain significancers769979161RCV001269326; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163163216163163216TC2:g.163163216T>C-
NM_022168.4(IFIH1):c.767_769+2dup64135IFIH1Uncertain significance-1RCV001878506; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163163216163163217TTACCTG163163216-
NM_022168.4(IFIH1):c.764T>C (p.Val255Ala)64135IFIH1Uncertain significance-1RCV001876719; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163163224163163224AG163163224-
NM_022168.4(IFIH1):c.760G>A (p.Val254Ile)64135IFIH1Uncertain significancers1256109895RCV000652100; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163163228163163228CT2:g.163163228C>TClinGen:CA349008135C3888244 615846 Aicardi-Goutieres syndrome 7;
NM_022168.4(IFIH1):c.759T>G (p.Ser253=)64135IFIH1Likely benign-1RCV002175088; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163163229163163229AC163163229-
NM_022168.4(IFIH1):c.758C>T (p.Ser253Phe)64135IFIH1Uncertain significancers774782975RCV001340104; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163163230163163230GA163163230-
NM_022168.4(IFIH1):c.755C>A (p.Ser252Tyr)64135IFIH1Uncertain significance-1RCV001893852; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163163233163163233GT163163233-
NM_022168.4(IFIH1):c.741A>G (p.Ser247=)64135IFIH1Likely benign-1RCV002138461; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163163247163163247TC163163247-
NM_022168.4(IFIH1):c.737_739dup (p.Ser247Ter)64135IFIH1Uncertain significance-1RCV002040178; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163163248163163249GGATT163163248-
NM_022168.4(IFIH1):c.738A>G (p.Glu246=)64135IFIH1Likely benign-1RCV002120320; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163163250163163250TC163163250-
NM_022168.4(IFIH1):c.736G>T (p.Glu246Ter)64135IFIH1Uncertain significance-1RCV001908638; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163163252163163252CA163163252-
NM_022168.4(IFIH1):c.730T>C (p.Ser244Pro)64135IFIH1Uncertain significancers753380568RCV001297109; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163163258163163258AG163163258-
NM_022168.4(IFIH1):c.730T>A (p.Ser244Thr)64135IFIH1Uncertain significance-1RCV001943753; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163163258163163258AT163163258-
NM_022168.4(IFIH1):c.729C>G (p.Asn243Lys)64135IFIH1Likely benignrs778501846RCV000969580; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163163259163163259GC2:g.163163259G>C-
NM_022168.4(IFIH1):c.716dup (p.Met240fs)64135IFIH1Likely pathogenicrs1558875029RCV000714824|RCV000714825; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51|MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163163271163163272GGCNC_000002.11:g.163163275dup-
NM_022168.4(IFIH1):c.713G>A (p.Trp238Ter)64135IFIH1Uncertain significancers1346345254RCV001963348; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163163275163163275CT163163275-
NM_022168.4(IFIH1):c.700G>C (p.Glu234Gln)64135IFIH1Likely benign-1RCV002113497; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163163288163163288CG163163288-
NM_022168.4(IFIH1):c.691C>A (p.Pro231Thr)64135IFIH1Likely benign-1RCV002164996; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163163297163163297GT163163297-
NM_022168.4(IFIH1):c.688C>T (p.Gln230Ter)64135IFIH1Uncertain significancers771251917RCV000817142; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163163300163163300GA2:g.163163300G>A-
NM_022168.4(IFIH1):c.683C>T (p.Thr228Ile)64135IFIH1Uncertain significance-1RCV001905812; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163163305163163305GA163163305-
NM_022168.4(IFIH1):c.660G>C (p.Val220=)64135IFIH1Likely benign-1RCV002186760; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163163328163163328CG163163328-
NM_022168.4(IFIH1):c.659T>C (p.Val220Ala)64135IFIH1Uncertain significancers1396124415RCV001208471; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163163329163163329AG2:g.163163329A>G-
NM_022168.4(IFIH1):c.653C>T (p.Pro218Leu)64135IFIH1Benignrs539777490RCV000900950; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163163335163163335GA2:g.163163335G>A-
NM_022168.4(IFIH1):c.652C>A (p.Pro218Thr)64135IFIH1Uncertain significance-1RCV002019090; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163163336163163336GT163163336-
NM_022168.4(IFIH1):c.644T>C (p.Val215Ala)64135IFIH1Uncertain significance-1RCV001907845; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163163344163163344AG163163344-
NM_022168.4(IFIH1):c.643G>A (p.Val215Ile)64135IFIH1Uncertain significancers930052265RCV001070431; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163163345163163345CT2:g.163163345C>T-
NM_022168.4(IFIH1):c.639A>G (p.Ser213=)64135IFIH1Likely benign-1RCV002196246; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163163349163163349TC163163349-
NM_022168.4(IFIH1):c.623-11G>A64135IFIH1Likely benign-1RCV002195584; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163163376163163376CT163163376-
NM_022168.4(IFIH1):c.623-17A>G64135IFIH1Likely benign-1RCV002220287; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163163382163163382TC163163382-
NM_022168.4(IFIH1):c.623-19C>G64135IFIH1Benign-1RCV001517107; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163163384163163384GC163163384-
NM_022168.4(IFIH1):c.622+18G>C64135IFIH1Likely benign-1RCV002162423; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163167257163167257CG163167257-
NM_022168.4(IFIH1):c.622+15A>G64135IFIH1Benign-1RCV002117805; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163167260163167260TC163167260-
NM_022168.4(IFIH1):c.622+8T>C64135IFIH1Likely benign-1RCV001394585; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163167267163167267AG163167267-
NM_022168.4(IFIH1):c.613A>G (p.Ser205Gly)64135IFIH1Uncertain significance-1RCV001910102; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163167284163167284TC163167284-
NM_022168.4(IFIH1):c.605G>A (p.Cys202Tyr)64135IFIH1Uncertain significance-1RCV002036615; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163167292163167292CT163167292-
NM_022168.4(IFIH1):c.599C>T (p.Ser200Phe)64135IFIH1Uncertain significance-1RCV001904099; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163167298163167298GA163167298-
NM_022168.4(IFIH1):c.592A>G (p.Thr198Ala)64135IFIH1Uncertain significance-1RCV001921845; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163167305163167305TC163167305-
NM_022168.4(IFIH1):c.584A>G (p.Gln195Arg)64135IFIH1Uncertain significancers1558876231RCV000694979; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163167313163167313TCNC_000002.11:g.163167313T>C-C3888244 615846 Aicardi-Goutieres syndrome 7;
NM_022168.4(IFIH1):c.580G>C (p.Val194Leu)64135IFIH1Uncertain significancers1553461143RCV000652094; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163167317163167317CGNC_000002.11:g.163167317C>GClinGen:CA349010855C3888244 615846 Aicardi-Goutieres syndrome 7;
NM_022168.4(IFIH1):c.578T>A (p.Leu193His)64135IFIH1Uncertain significance-1RCV001878256; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163167319163167319AT163167319-
NM_022168.4(IFIH1):c.572A>G (p.Asn191Ser)64135IFIH1Uncertain significance-1RCV001910175; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163167325163167325TC163167325-
NM_022168.4(IFIH1):c.566G>C (p.Gly189Ala)64135IFIH1Uncertain significance-1RCV002042480; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163167331163167331CG163167331-
NM_022168.4(IFIH1):c.564A>G (p.Thr188=)64135IFIH1Likely benign-1RCV002159878; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163167333163167333TC163167333-
NM_022168.4(IFIH1):c.557G>C (p.Arg186Pro)64135IFIH1Uncertain significancers189443152RCV001234603; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163167340163167340CG2:g.163167340C>G-
NM_022168.4(IFIH1):c.557G>A (p.Arg186His)64135IFIH1Likely benign-1RCV002105596; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163167340163167340CT163167340-
NM_022168.4(IFIH1):c.556C>T (p.Arg186Cys)64135IFIH1Uncertain significancers180843163RCV001048736; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163167341163167341GA2:g.163167341G>A-
NM_022168.4(IFIH1):c.540A>G (p.Ala180=)64135IFIH1Likely benign-1RCV002140577; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163167357163167357TC163167357-
NM_022168.4(IFIH1):c.529T>C (p.Trp177Arg)64135IFIH1Uncertain significance-1RCV001938909; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163167368163167368AG163167368-
NM_022168.4(IFIH1):c.527A>G (p.Asn176Ser)64135IFIH1Uncertain significancers374205118RCV001196856|RCV001228695; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191|MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163167370163167370TC2:g.163167370T>C-
NM_022168.4(IFIH1):c.516G>A (p.Val172=)64135IFIH1Likely benign-1RCV002208397; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163167381163167381CT163167381-
NM_022168.4(IFIH1):c.510G>C (p.Arg170Ser)64135IFIH1Uncertain significance-1RCV001934676; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163167387163167387CG163167387-
NM_022168.4(IFIH1):c.487G>A (p.Gly163Ser)64135IFIH1Uncertain significancers1007619458RCV001206226; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163167410163167410CT2:g.163167410C>T-
NM_022168.4(IFIH1):c.485C>A (p.Ser162Ter)64135IFIH1Uncertain significance-1RCV002016085; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163167412163167412GT163167412-
NM_022168.4(IFIH1):c.481G>A (p.Glu161Lys)64135IFIH1Uncertain significancers1018886793RCV001345992; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163167416163167416CT163167416-
NM_022168.4(IFIH1):c.478A>G (p.Asn160Asp)64135IFIH1Conflicting interpretations of pathogenicityrs74162075RCV000767991|RCV001796206; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191|MedGen:CN5172022163167419163167419TCNC_000002.11:g.163167419T>C-
NM_022168.4(IFIH1):c.467A>C (p.Glu156Ala)64135IFIH1Uncertain significancers144853750RCV001317388; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163167430163167430TG163167430-
NM_022168.4(IFIH1):c.463G>A (p.Ala155Thr)64135IFIH1Likely benign-1RCV002150575; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163167434163167434CT163167434-
NM_022168.4(IFIH1):c.457G>T (p.Ala153Ser)64135IFIH1Uncertain significancers781431529RCV000767992; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163167440163167440CANC_000002.11:g.163167440C>A-
NM_022168.4(IFIH1):c.456del (p.Ile152fs)64135IFIH1Uncertain significancers1683376227RCV001325147; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163167441163167441CAC163167440-
NM_022168.4(IFIH1):c.454-1G>T64135IFIH1Uncertain significancers148590996RCV000660600; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163167444163167444CANC_000002.11:g.163167444C>A-C3888244 615846 Aicardi-Goutieres syndrome 7;
NM_022168.4(IFIH1):c.454-3C>G64135IFIH1Uncertain significance-1RCV002045301; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163167446163167446GC163167446-
NM_022168.4(IFIH1):c.454-4A>G64135IFIH1Uncertain significancers1683376303RCV001223546; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163167447163167447TC2:g.163167447T>C-
NM_022168.4(IFIH1):c.454-11T>C64135IFIH1Likely benign-1RCV002108765; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163167454163167454AG163167454-
NM_022168.4(IFIH1):c.453+19G>C64135IFIH1Likely benign-1RCV002213200; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163174346163174346CG163174346-
NM_022168.4(IFIH1):c.453+17A>G64135IFIH1Likely benign-1RCV002179057; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163174348163174348TC163174348-
NM_022168.4(IFIH1):c.453+8T>A64135IFIH1Likely benign-1RCV001486420; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163174357163174357AT163174357-
NM_022168.4(IFIH1):c.453+7G>A64135IFIH1Likely benign-1RCV002085648; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163174358163174358CT163174358-
NM_022168.4(IFIH1):c.453+5G>C64135IFIH1Benign-1RCV002114416; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163174360163174360CG163174360-
NM_022168.4(IFIH1):c.453+1G>A64135IFIH1Uncertain significance-1RCV002023669; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163174364163174364CT163174364-
NM_022168.4(IFIH1):c.450C>T (p.Asn150=)64135IFIH1Likely benign-1RCV002076883; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163174368163174368GA163174368-
NM_022168.4(IFIH1):c.448A>G (p.Asn150Asp)64135IFIH1Uncertain significance-1RCV002025793; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163174370163174370TC163174370-
NM_022168.4(IFIH1):c.445A>G (p.Arg149Gly)64135IFIH1Uncertain significancers74162074RCV000652098|RCV000997249; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191|MedGen:CN5172022163174373163174373TC2:g.163174373T>CClinGen:CA1934826C3888244 615846 Aicardi-Goutieres syndrome 7;
NM_022168.4(IFIH1):c.442G>A (p.Asp148Asn)64135IFIH1Uncertain significance-1RCV002048553; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163174376163174376CT163174376-
NM_022168.4(IFIH1):c.438T>C (p.Ile146=)64135IFIH1Likely benign-1RCV002079997; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163174380163174380AG163174380-
NM_022168.4(IFIH1):c.436A>G (p.Ile146Val)64135IFIH1Likely benignrs146721166RCV000652113; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163174382163174382TC2:g.163174382T>CClinGen:CA1934829C3888244 615846 Aicardi-Goutieres syndrome 7;
NM_022168.4(IFIH1):c.428T>C (p.Leu143Pro)64135IFIH1Uncertain significancers1231638178RCV000811886; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163174390163174390AG2:g.163174390A>G-
NM_022168.4(IFIH1):c.427C>T (p.Leu143=)64135IFIH1Benignrs143902922RCV000873035; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163174391163174391GA2:g.163174391G>A-
NM_022168.4(IFIH1):c.420G>A (p.Glu140=)64135IFIH1Likely benignrs74162073RCV000875500; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163174398163174398CT2:g.163174398C>T-
NM_022168.4(IFIH1):c.418G>A (p.Glu140Lys)64135IFIH1Uncertain significancers766508793RCV000539878; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163174400163174400CTNC_000002.11:g.163174400C>TClinGen:CA1934832C3888244 615846 Aicardi-Goutieres syndrome 7;
NM_022168.4(IFIH1):c.418G>T (p.Glu140Ter)64135IFIH1Uncertain significance-1RCV002008156; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163174400163174400CA163174400-
NM_022168.4(IFIH1):c.413G>A (p.Cys138Tyr)64135IFIH1Uncertain significance-1RCV001908622; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163174405163174405CT163174405-
NM_022168.4(IFIH1):c.412T>A (p.Cys138Ser)64135IFIH1Uncertain significance-1RCV001887237; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163174406163174406AT163174406-
NM_022168.4(IFIH1):c.411G>C (p.Lys137Asn)64135IFIH1Uncertain significance-1RCV001884325; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163174407163174407CG163174407-
NM_022168.4(IFIH1):c.409A>C (p.Lys137Gln)64135IFIH1Uncertain significance-1RCV001890429; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163174409163174409TG163174409-
NM_022168.4(IFIH1):c.406G>A (p.Asp136Asn)64135IFIH1Uncertain significance-1RCV002015530; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163174412163174412CT163174412-
NM_022168.4(IFIH1):c.391G>A (p.Val131Ile)64135IFIH1Uncertain significance-1RCV002012912; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163174427163174427CT163174427-
NM_022168.4(IFIH1):c.390A>C (p.Leu130=)64135IFIH1Likely benign-1RCV002179990; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163174428163174428TG163174428-
NM_022168.4(IFIH1):c.389T>C (p.Leu130Pro)64135IFIH1Uncertain significance-1RCV001982009; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163174429163174429AG163174429-
NM_022168.4(IFIH1):c.386T>C (p.Leu129Pro)64135IFIH1Uncertain significance-1RCV001863973; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163174432163174432AG163174432-
NM_022168.4(IFIH1):c.384G>A (p.Lys128=)64135IFIH1Likely benign-1RCV001429673; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163174434163174434CT163174434-
NM_022168.4(IFIH1):c.376G>A (p.Val126Met)64135IFIH1Uncertain significance-1RCV001991122; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163174442163174442CT163174442-
NM_022168.4(IFIH1):c.373C>A (p.Leu125Met)64135IFIH1Uncertain significancers139219083RCV001338307; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163174445163174445GT163174445-
NM_022168.4(IFIH1):c.373C>G (p.Leu125Val)64135IFIH1Uncertain significance-1RCV001999065; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163174445163174445GC163174445-
NM_022168.4(IFIH1):c.371C>A (p.Thr124Asn)64135IFIH1Uncertain significancers768520868RCV001350166; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163174447163174447GT163174447-
NM_022168.4(IFIH1):c.370dup (p.Thr124fs)64135IFIH1Uncertain significance-1RCV002003452; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163174447163174448GGT163174447-
NM_022168.4(IFIH1):c.369C>T (p.Pro123=)64135IFIH1Likely benign-1RCV002201148; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163174449163174449GA163174449-
NM_022168.4(IFIH1):c.367C>T (p.Pro123Ser)64135IFIH1Uncertain significance-1RCV001962809; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163174451163174451GA163174451-
NM_022168.4(IFIH1):c.346C>A (p.Gln116Lys)64135IFIH1Uncertain significance-1RCV001364251; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163174472163174472GT163174472-
NM_022168.4(IFIH1):c.337G>A (p.Glu113Lys)64135IFIH1Uncertain significance-1RCV002025762; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163174481163174481CT163174481-
NM_022168.4(IFIH1):c.332A>G (p.His111Arg)64135IFIH1Uncertain significance-1RCV002018969; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163174486163174486TC163174486-
NM_022168.4(IFIH1):c.331C>A (p.His111Asn)64135IFIH1Uncertain significance-1RCV002042421; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163174487163174487GT163174487-
NM_022168.4(IFIH1):c.328G>C (p.Ala110Pro)64135IFIH1Uncertain significance-1RCV001963589; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163174490163174490CG163174490-
NM_022168.4(IFIH1):c.319T>G (p.Phe107Val)64135IFIH1Uncertain significance-1RCV001971186; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163174499163174499AC163174499-
NM_022168.4(IFIH1):c.317C>T (p.Ser106Leu)64135IFIH1Uncertain significancers764380346RCV000698987; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163174501163174501GANC_000002.11:g.163174501G>A-C3888244 615846 Aicardi-Goutieres syndrome 7;
NM_022168.4(IFIH1):c.312_313del (p.Pro105fs)64135IFIH1Likely benign-1RCV002219897; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163174505163174506GGAG163174504-
NM_022168.4(IFIH1):c.301G>C (p.Asp101His)64135IFIH1Uncertain significancers1576243308RCV000801892; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163174517163174517CG2:g.163174517C>G-
NM_022168.4(IFIH1):c.300G>C (p.Thr100=)64135IFIH1Likely benign-1RCV002154282; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163174518163174518CG163174518-
NM_022168.4(IFIH1):c.299C>G (p.Thr100Arg)64135IFIH1Uncertain significancers757803902RCV001326075; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163174519163174519GC163174519-
NM_022168.4(IFIH1):c.298A>G (p.Thr100Ala)64135IFIH1Uncertain significancers375449284RCV001262476|RCV001880042; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51|MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163174520163174520TC2:g.163174520T>C-
NM_022168.4(IFIH1):c.296T>C (p.Leu99Pro)64135IFIH1Uncertain significance-1RCV002006394; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163174522163174522AG163174522-
NM_022168.4(IFIH1):c.285G>A (p.Met95Ile)64135IFIH1Uncertain significancers748006043RCV001055861; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163174533163174533CT2:g.163174533C>T-
NM_022168.4(IFIH1):c.285G>C (p.Met95Ile)64135IFIH1Likely benign-1RCV002118860; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163174533163174533CG163174533-
NM_022168.4(IFIH1):c.284T>C (p.Met95Thr)64135IFIH1Uncertain significance-1RCV001877186; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163174534163174534AG163174534-
NM_022168.4(IFIH1):c.283A>G (p.Met95Val)64135IFIH1Uncertain significancers777534095RCV000791679; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163174535163174535TC2:g.163174535T>C-
NM_022168.4(IFIH1):c.281A>G (p.Tyr94Cys)64135IFIH1Uncertain significance-1RCV001876869; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163174537163174537TC163174537-
NM_022168.4(IFIH1):c.277C>T (p.Arg93Cys)64135IFIH1Uncertain significancers947699715RCV001218989; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163174541163174541GA2:g.163174541G>A-
NM_022168.4(IFIH1):c.277C>G (p.Arg93Gly)64135IFIH1Uncertain significance-1RCV001952880; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163174541163174541GC163174541-
NM_022168.4(IFIH1):c.275C>T (p.Ala92Val)64135IFIH1Uncertain significance-1RCV001916300; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163174543163174543GA163174543-
NM_022168.4(IFIH1):c.261C>T (p.Gly87=)64135IFIH1Uncertain significance-1RCV002002015; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163174557163174557GA163174557-
NM_022168.4(IFIH1):c.258C>G (p.Thr86=)64135IFIH1Benign/Likely benignrs143870870RCV000548092|RCV001775871; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191|MedGen:CN5172022163174560163174560GCNC_000002.11:g.163174560G>CClinGen:CA1934872C3888244 615846 Aicardi-Goutieres syndrome 7;
NM_022168.4(IFIH1):c.257C>T (p.Thr86Ile)64135IFIH1Uncertain significance-1RCV001941457; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163174561163174561GA163174561-
NM_022168.4(IFIH1):c.250C>A (p.Arg84=)64135IFIH1Likely benign-1RCV002116616; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163174568163174568GT163174568-
NM_022168.4(IFIH1):c.243G>A (p.Glu81=)64135IFIH1Likely benign-1RCV002115116; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163174575163174575CT163174575-
NM_022168.4(IFIH1):c.242A>C (p.Glu81Ala)64135IFIH1Uncertain significance-1RCV001878817; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163174576163174576TG163174576-
NM_022168.4(IFIH1):c.241G>A (p.Glu81Lys)64135IFIH1Uncertain significance-1RCV001945078; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163174577163174577CT163174577-
NM_022168.4(IFIH1):c.230G>A (p.Arg77Gln)64135IFIH1Uncertain significancers367851471RCV000526902; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163174588163174588CTNC_000002.11:g.163174588C>TClinGen:CA59694254C3888244 615846 Aicardi-Goutieres syndrome 7;
NM_022168.4(IFIH1):c.230G>T (p.Arg77Leu)64135IFIH1Uncertain significance-1RCV002048608; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163174588163174588CA163174588-
NM_022168.4(IFIH1):c.230G>C (p.Arg77Pro)64135IFIH1Uncertain significance-1RCV002008884; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163174588163174588CG163174588-
NM_022168.4(IFIH1):c.229C>T (p.Arg77Trp)64135IFIH1Conflicting interpretations of pathogenicityrs147278787RCV000873861|RCV000986846|RCV001548182; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191|MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191|MedGen:CN5172022163174589163174589GA2:g.163174589G>A-
NM_022168.4(IFIH1):c.229C>A (p.Arg77=)64135IFIH1Uncertain significancers147278787RCV001064268; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163174589163174589GT2:g.163174589G>T-
NM_022168.4(IFIH1):c.226A>T (p.Thr76Ser)64135IFIH1Uncertain significance-1RCV002036315; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163174592163174592TA163174592-
NM_022168.4(IFIH1):c.223T>A (p.Trp75Arg)64135IFIH1Uncertain significance-1RCV001930409; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163174595163174595AT163174595-
NM_022168.4(IFIH1):c.221G>A (p.Gly74Asp)64135IFIH1Uncertain significance-1RCV001373390; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163174597163174597CT163174597-
NM_022168.4(IFIH1):c.220G>C (p.Gly74Arg)64135IFIH1Uncertain significancers1683544639RCV001322631; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163174598163174598CG163174598-
NM_022168.4(IFIH1):c.219T>C (p.Leu73=)64135IFIH1Likely benign-1RCV002200539; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163174599163174599AG163174599-
NM_022168.4(IFIH1):c.217C>T (p.Leu73Phe)64135IFIH1Uncertain significancers1307616619RCV001065518; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163174601163174601GA2:g.163174601G>A-
NM_022168.4(IFIH1):c.216C>A (p.His72Gln)64135IFIH1Uncertain significancers774025268RCV001241589; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163174602163174602GT2:g.163174602G>T-
NM_022168.4(IFIH1):c.216C>G (p.His72Gln)64135IFIH1Uncertain significance-1RCV002017598; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163174602163174602GC163174602-
NM_022168.4(IFIH1):c.206G>C (p.Gly69Ala)64135IFIH1Likely benign-1RCV002189985; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163174612163174612CG163174612-
NM_022168.4(IFIH1):c.201G>T (p.Glu67Asp)64135IFIH1Uncertain significance-1RCV001871160; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163174617163174617CA163174617-
NM_022168.4(IFIH1):c.199G>C (p.Glu67Gln)64135IFIH1Uncertain significance-1RCV002048921; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163174619163174619CG163174619-
NM_022168.4(IFIH1):c.192C>A (p.Ser64Arg)64135IFIH1Likely benign-1RCV002186345; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163174626163174626GT163174626-
NM_022168.4(IFIH1):c.186G>T (p.Leu62=)64135IFIH1Likely benign-1RCV002087903; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163174632163174632CA163174632-
NM_022168.4(IFIH1):c.180A>C (p.Glu60Asp)64135IFIH1Uncertain significance-1RCV002016826; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163174638163174638TG163174638-
NM_022168.4(IFIH1):c.177T>C (p.Val59=)64135IFIH1Benignrs115500208RCV000652108; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163174641163174641AGNC_000002.11:g.163174641A>GClinGen:CA1934886C3888244 615846 Aicardi-Goutieres syndrome 7;
NM_022168.4(IFIH1):c.177T>G (p.Val59=)64135IFIH1Likely benign-1RCV002131853; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163174641163174641AC163174641-
NM_022168.4(IFIH1):c.161G>C (p.Gly54Ala)64135IFIH1Uncertain significance-1RCV001372411; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163174657163174657CG163174657-
NM_022168.4(IFIH1):c.155C>A (p.Thr52Asn)64135IFIH1Uncertain significance-1RCV001367796; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163174663163174663GT163174663-
NM_022168.4(IFIH1):c.145A>G (p.Thr49Ala)64135IFIH1Uncertain significancers747135877RCV001051844; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163174673163174673TC2:g.163174673T>C-
NM_022168.4(IFIH1):c.121G>C (p.Glu41Gln)64135IFIH1Uncertain significance-1RCV002005420; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163174697163174697CG163174697-
NM_022168.4(IFIH1):c.109T>C (p.Phe37Leu)64135IFIH1Uncertain significancers888356659RCV001298513|RCV001334145; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51|MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163174709163174709AG163174709-
NM_022168.4(IFIH1):c.104T>A (p.Leu35Gln)64135IFIH1Uncertain significancers1235525082RCV001249329|RCV001751511; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51|MedGen:CN5172022163174714163174714AT2:g.163174714A>T-
NM_022168.4(IFIH1):c.103C>T (p.Leu35=)64135IFIH1Benignrs75342243RCV000874589; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163174715163174715GA2:g.163174715G>A-
NM_022168.4(IFIH1):c.102C>T (p.Tyr34=)64135IFIH1Likely benign-1RCV002136319; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163174716163174716GA163174716-
NM_022168.4(IFIH1):c.93G>A (p.Val31=)64135IFIH1Likely benign-1RCV002176043; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163174725163174725CT163174725-
NM_022168.4(IFIH1):c.91G>T (p.Val31Leu)64135IFIH1Uncertain significance-1RCV001985932; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163174727163174727CA163174727-
NM_022168.4(IFIH1):c.80A>C (p.Gln27Pro)64135IFIH1Uncertain significance-1RCV001928261; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163174738163174738TG163174738-
NM_022168.4(IFIH1):c.77T>A (p.Ile26Asn)64135IFIH1Uncertain significancers1442046271RCV000518968|RCV001249703|RCV001858039; NMedGen:CN517202|MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51|MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163174741163174741AT2:g.163174741A>TClinGen:CA349014599CN169374 not specified;
NM_022168.4(IFIH1):c.77T>C (p.Ile26Thr)64135IFIH1Uncertain significancers1442046271RCV001323156; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163174741163174741AG163174741-
NM_022168.4(IFIH1):c.75C>T (p.Tyr25=)64135IFIH1Likely benign-1RCV002171665; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163174743163174743GA163174743-
NM_022168.4(IFIH1):c.63G>T (p.Arg21Ser)64135IFIH1Uncertain significance-1RCV001368598; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163174755163174755CA163174755-
NM_022168.4(IFIH1):c.63G>C (p.Arg21Ser)64135IFIH1Uncertain significance-1RCV001866659; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163174755163174755CG163174755-
NM_022168.4(IFIH1):c.62G>T (p.Arg21Met)64135IFIH1Uncertain significance-1RCV002022246; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163174756163174756CA163174756-
NM_022168.4(IFIH1):c.58G>A (p.Ala20Thr)64135IFIH1Uncertain significance-1RCV001902447; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163174760163174760CT163174760-
NM_022168.4(IFIH1):c.48G>C (p.Ser16=)64135IFIH1Likely benignrs1418349209RCV000936592; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163174770163174770CG2:g.163174770C>G-
NM_022168.4(IFIH1):c.47C>G (p.Ser16Trp)64135IFIH1Uncertain significancers372313271RCV001209484; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163174771163174771GC2:g.163174771G>C-
NM_022168.4(IFIH1):c.45C>T (p.Ile15=)64135IFIH1Likely benign-1RCV001461501; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163174773163174773GA163174773-
NM_022168.4(IFIH1):c.37T>A (p.Tyr13Asn)64135IFIH1Uncertain significance-1RCV001976717; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163174781163174781AT163174781-
NM_022168.4(IFIH1):c.36C>G (p.Arg12=)64135IFIH1Uncertain significancers1683553380RCV001225903; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163174782163174782GC2:g.163174782G>C-
NM_022168.4(IFIH1):c.32T>C (p.Phe11Ser)64135IFIH1Uncertain significancers1355798943RCV001728055|RCV001861026; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51|MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163174786163174786AG163174786-
NM_022168.4(IFIH1):c.25G>A (p.Glu9Lys)64135IFIH1Uncertain significancers375179358RCV001208154; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163174793163174793CT2:g.163174793C>T-
NM_022168.4(IFIH1):c.21A>C (p.Thr7=)64135IFIH1Likely benign-1RCV002080526; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163174797163174797TG163174797-
NM_022168.4(IFIH1):c.19A>T (p.Thr7Ser)64135IFIH1Likely benign-1RCV002174035; NMONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:51; MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:851912163174799163174799TA163174799-
NM_022168.4(IFIH1):c.14A>C (p.Tyr5Ser)64135IFIH1Uncertain significance-1RCV001366001; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163174804163174804TG163174804-
NM_022168.4(IFIH1):c.8A>G (p.Asn3Ser)64135IFIH1Uncertain significance-1RCV002050189; NMONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250, Orphanet:85191; MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846, Orphanet:512163174810163174810TC163174810-
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