MSeqDR Mitochondrial Disease Portal


 
*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
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Disease Browser
Parent Node:
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Parkinson Disease (D010300)
..Starting node
..expand
PARKINSON DISEASE 20, EARLY-ONSET (OMIM:615530)

       Child Nodes:



 Sister Nodes: 
..expandAMYOTROPHIC LATERAL SCLEROSIS-PARKINSONISM/DEMENTIA COMPLEX 1 (OMIM:105500)
..expandParalysis Agitans, Juvenile, Of Hunt (C562469)
..expandPARKINSON DISEASE 1, AUTOSOMAL DOMINANT (OMIM:168601)
..expandParkinson Disease 10 (C564653)
..expandParkinson Disease 11 (C564345)
..expandPARKINSON DISEASE 11, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO (OMIM:607688)
..expandParkinson Disease 12 (C564486)
..expandParkinson Disease 13 (C565204)
..expandPARKINSON DISEASE 13, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO (OMIM:610297)
..expandPARKINSON DISEASE 14, AUTOSOMAL RECESSIVE (OMIM:612953)
..expandParkinson Disease 16 (C567726)
..expandPARKINSON DISEASE 17 (OMIM:614203)
..expandPARKINSON DISEASE 18, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO (OMIM:614251)
..expandPARKINSON DISEASE 19A, JUVENILE-ONSET (OMIM:615528)
..expandPARKINSON DISEASE 20, EARLY-ONSET (OMIM:615530)
..expandPARKINSON DISEASE 21 (OMIM:616361)
..expandPARKINSON DISEASE 22, AUTOSOMAL DOMINANT (OMIM:616710)
..expandPARKINSON DISEASE 23, AUTOSOMAL RECESSIVE EARLY-ONSET (OMIM:616840)
..expandParkinson disease 3 (C537176)
..expandParkinson Disease 3, Autosomal Dominant Lewy Body (C566552)
..expandParkinson Disease 4, Autosomal Dominant Lewy Body (C565324)
..expandPARKINSON DISEASE 5, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO (OMIM:613643)
..expandParkinson Disease 6, Autosomal Recessive Early-Onset (C565276)
..expandParkinson Disease 7, Autosomal Recessive Early-Onset (C565238)
..expandPARKINSON DISEASE 8, AUTOSOMAL DOMINANT (OMIM:607060)
..expandParkinson Disease, Familial, Type 1 (C566823)
..expandPARKINSON DISEASE, LATE-ONSET (OMIM:168600)
..expandParkinson Disease, Mitochondrial (C564015)  LSDB  L: 00170;
..expandParkinsonism, early onset with mental retardation (C537179)
..expandParkinsonism-Dystonia, Infantile (C567730)
..expandProgressive supranuclear palsy atypical (C537240)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:9551
Name:PARKINSON DISEASE 20, EARLY-ONSET
Definition:
Alternative IDs:DO:DOID:0060898
ParentIDs:MESH:D010300
TreeNumbers:C10.228.140.079.862.500/615530 |C10.228.662.600.400/615530 |C10.574.812/615530
Synonyms:PARK20
Slim Mappings:Nervous system disease
Reference: MedGen: 615530
MeSH: 615530
OMIM: 615530;
MSeqDR LSDB:  
Genes: PKLR; SYNJ1;
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0002067Bradykinesia
3 HP:0001260Dysarthria
NAMDC:  Dysarthria
4 HP:0001332Dystonia
NAMDC:  Dystonia
5 HP:0000658Eyelid apraxia
6 HP:0001268Mental deteriorationHP:0040283
7 HP:0001300Parkinsonism
NAMDC:  Parkinsonism
8 HP:0002172Postural instability
9 HP:0003676Progressive
10 HP:0002063Rigidity
11 HP:0002362Shuffling gait
12 HP:0025401Staring gaze
13 HP:0000605Supranuclear gaze palsy
14 HP:0001337Tremor
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NC_000021.8:g.(?_32439271)_(37133458_?)dup8867SYNJ1Uncertain significance-1RCV001338842; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213243927137133458nana-1-
NC_000021.8:g.(?_33974153)_(34074377_?)dup8867SYNJ1Uncertain significance-1RCV000708396; NMONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934213397415334074377nana-
NC_000021.9:g.(?_32601843)_(32634904_?)dup8867SYNJ1Uncertain significance-1RCV001033655; NMONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934213397415334007214nana-1-
NC_000021.8:g.(?_34000069)_(34101351_?)dup8867SYNJ1Uncertain significance-1RCV001033279; NMONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934213400006934101351nana-1-
NM_203446.3(SYNJ1):c.*807A>G8867SYNJ1Uncertain significancers2039296175RCV001064670; NMONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934213400330834003308TC21:g.34003308T>C-
NM_203446.3(SYNJ1):c.*806G>A8867SYNJ1Uncertain significancers772562248RCV001224896; NMONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934213400330934003309CT21:g.34003309C>T-
NM_203446.3(SYNJ1):c.*806G>C8867SYNJ1Uncertain significancers772562248RCV001238755; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213400330934003309CG21:g.34003309C>G-
NM_203446.3(SYNJ1):c.*770C>T8867SYNJ1Uncertain significancers2039298283RCV001070167; NMONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934213400334534003345GA21:g.34003345G>A-
NM_203446.3(SYNJ1):c.*767T>G8867SYNJ1Uncertain significancers764949465RCV000791696; NMONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934213400334834003348AC21:g.34003348A>C-
NM_203446.3(SYNJ1):c.*763A>G8867SYNJ1Uncertain significancers778073626RCV001240169; NMONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934213400335234003352TC21:g.34003352T>C-
NM_203446.3(SYNJ1):c.*761C>T8867SYNJ1Likely benignrs111516740RCV000558151; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213400335434003354GA21:g.34003354G>AClinGen:CA10003043
NM_203446.3(SYNJ1):c.*755C>T8867SYNJ1Uncertain significancers2039299981RCV001341387; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213400336034003360GA34003360-
NM_203446.3(SYNJ1):c.*753T>C8867SYNJ1Likely benign-1RCV001504834; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213400336234003362AG34003362-
NM_203446.3(SYNJ1):c.*741C>T8867SYNJ1Likely benign-1RCV001415574; NMONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934213400337434003374GA34003374-
NM_203446.3(SYNJ1):c.*738C>T8867SYNJ1Likely benignrs747245690RCV000655785; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213400337734003377GA21:g.34003377G>AClinGen:CA10003049C4479313 617389 Epileptic encephalopathy, early infantile, 53;
NM_203446.3(SYNJ1):c.*737C>G8867SYNJ1Uncertain significancers746226206RCV001220175; NMONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934213400337834003378GC21:g.34003378G>C-
NM_203446.3(SYNJ1):c.*733G>A8867SYNJ1Uncertain significancers758953009RCV001217726; NMONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934213400338234003382CT21:g.34003382C>T-
NM_203446.3(SYNJ1):c.*732C>T8867SYNJ1Benignrs148676465RCV000964602; NMONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934213400338334003383GA21:g.34003383G>A-
NM_203446.3(SYNJ1):c.*729G>A8867SYNJ1Likely benign-1RCV001418553; NMONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934213400338634003386CT34003386-
NM_203446.3(SYNJ1):c.*728C>T8867SYNJ1Likely benignrs2230767RCV000713734|RCV001084764; NMedGen:CN517202|MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213400338734003387GA21:g.34003387G>AClinGen:CA10003055
NM_203446.3(SYNJ1):c.*719CT[1]8867SYNJ1Uncertain significancers1236484854RCV001228026; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213400339334003394CAGC21:g.34003393_34003394del-
NM_203446.3(SYNJ1):c.*712C>T8867SYNJ1Uncertain significancers2039303366RCV001059547; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213400340334003403GA21:g.34003403G>A-
NM_203446.3(SYNJ1):c.*709C>T8867SYNJ1Uncertain significancers912535820RCV001223989; NMONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934213400340634003406GA21:g.34003406G>A-
NM_203446.3(SYNJ1):c.*704C>G8867SYNJ1Uncertain significancers367591704RCV001225929; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213400341134003411GC21:g.34003411G>C-
NM_203446.3(SYNJ1):c.*690G>A8867SYNJ1Benign-1RCV001521869; NMONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934213400342534003425CT34003425-
NM_203446.3(SYNJ1):c.*689C>T8867SYNJ1Uncertain significancers766938091RCV001215449; NMONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934213400342634003426GA21:g.34003426G>A-
NM_203446.3(SYNJ1):c.*677_*679del8867SYNJ1Likely benignrs528030561RCV000879439; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213400343634003438CAGAC21:g.34003436_34003438del-
NM_203446.3(SYNJ1):c.*678C>G8867SYNJ1Uncertain significancers760299495RCV000820638; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213400343734003437GC21:g.34003437G>C-
NM_203446.3(SYNJ1):c.*676T>C8867SYNJ1Uncertain significancers2039305600RCV001214034; NMONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934213400343934003439AG21:g.34003439A>G-
NM_203446.3(SYNJ1):c.*668A>C8867SYNJ1Uncertain significancers2039305821RCV001325874; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213400344734003447TG34003447-
NM_203446.3(SYNJ1):c.*666A>G8867SYNJ1Uncertain significancers763776246RCV000813890; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213400344934003449TC21:g.34003449T>C-
NM_203446.3(SYNJ1):c.*665C>G8867SYNJ1Likely benign-1RCV001489826; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213400345034003450GC34003450-
NM_203446.3(SYNJ1):c.*638C>T8867SYNJ1Uncertain significancers755473642RCV001056699; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213400347734003477GA21:g.34003477G>A-
NM_203446.3(SYNJ1):c.*633C>T8867SYNJ1Likely benign-1RCV001413824; NMONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934213400348234003482GA34003482-
NM_203446.3(SYNJ1):c.*618A>G8867SYNJ1Likely benignrs139212871RCV000946037; NMONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934213400349734003497TC21:g.34003497T>C-
NM_203446.3(SYNJ1):c.*613A>G8867SYNJ1Uncertain significancers769954720RCV000694869; NMONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934213400350234003502TC21:g.34003502T>C-C4479313 617389 Epileptic encephalopathy, early infantile, 53;
NM_203446.3(SYNJ1):c.*613A>C8867SYNJ1Uncertain significancers769954720RCV001229156; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213400350234003502TG21:g.34003502T>G-
NM_203446.3(SYNJ1):c.*611C>T8867SYNJ1Benign/Likely benignrs76056543RCV000713733|RCV001082702; NMedGen:CN517202|MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213400350434003504GA21:g.34003504G>AClinGen:CA10003077
NM_203446.3(SYNJ1):c.*602G>A8867SYNJ1Uncertain significancers375352780RCV001223988; NMONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934213400351334003513CT21:g.34003513C>T-
NM_203446.3(SYNJ1):c.*598C>A8867SYNJ1Uncertain significance-1RCV001368581; NMONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934213400351734003517GT34003517-
NM_203446.3(SYNJ1):c.*576_*584del8867SYNJ1Uncertain significancers769088554RCV001037484; NMONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934213400353134003539AGCTGACTTTA21:g.34003531_34003539del-
NM_203446.3(SYNJ1):c.*574T>A8867SYNJ1Uncertain significancers138122167RCV000552863; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213400354134003541AT21:g.34003541A>TClinGen:CA319449810
NM_203446.3(SYNJ1):c.*552G>A8867SYNJ1Likely benignrs146425050RCV000544822|RCV001171960; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411|MedGen:CN517202213400356334003563CT21:g.34003563C>TClinGen:CA10003094
NM_203446.3(SYNJ1):c.*541G>A8867SYNJ1Uncertain significancers770188528RCV001235644; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213400357434003574CT21:g.34003574C>T-
NM_203446.3(SYNJ1):c.*540C>T8867SYNJ1Likely benign-1RCV001442361; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213400357534003575GA34003575-
NM_203446.3(SYNJ1):c.*526G>A8867SYNJ1Uncertain significancers1304102538RCV001302128; NMONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934213400358934003589CT34003589-
NM_203446.3(SYNJ1):c.*522G>A8867SYNJ1Likely benignrs777945782RCV000532497; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213400359334003593CT21:g.34003593C>TClinGen:CA10003097
NM_203446.3(SYNJ1):c.*521C>G8867SYNJ1Uncertain significancers749527882RCV000655769; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213400359434003594GC21:g.34003594G>CClinGen:CA10003099
NM_203446.3(SYNJ1):c.*491A>C8867SYNJ1Uncertain significancers776115769RCV000801905; NMONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934213400362434003624TG21:g.34003624T>G-
NM_203446.3(SYNJ1):c.*485A>T8867SYNJ1Uncertain significancers764848521RCV001241242; NMONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934213400363034003630TA21:g.34003630T>A-
NM_203446.3(SYNJ1):c.*469T>C8867SYNJ1Uncertain significancers753264526RCV001218963; NMONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934213400364634003646AG21:g.34003646A>G-
NM_203446.3(SYNJ1):c.*459A>G8867SYNJ1Likely benign-1RCV001393712; NMONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934213400365634003656TC34003656-
NM_203446.3(SYNJ1):c.*443G>A8867SYNJ1Likely benign-1RCV001487588; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213400367234003672CT34003672-
NM_203446.3(SYNJ1):c.*442A>G8867SYNJ1Uncertain significancers1443131725RCV001069861; NMONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934213400367334003673TC21:g.34003673T>C-
NM_203446.3(SYNJ1):c.*412C>G8867SYNJ1Uncertain significancers1012542243RCV001235592; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213400370334003703GC21:g.34003703G>C-
NM_203446.3(SYNJ1):c.*411C>T8867SYNJ1Likely benign-1RCV001459697; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213400370434003704GA34003704-
NM_203446.3(SYNJ1):c.*396T>C8867SYNJ1Likely benign-1RCV001445567; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213400371934003719AG34003719-
NM_203446.3(SYNJ1):c.*393C>T8867SYNJ1Likely benign-1RCV001445398; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213400372234003722GA34003722-
NM_203446.3(SYNJ1):c.*333C>T8867SYNJ1Likely benignrs548047319RCV000901758; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213400378234003782GA21:g.34003782G>A-
NM_203446.3(SYNJ1):c.*329G>A8867SYNJ1Benignrs61750217RCV000556286|RCV000713732; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411|MedGen:CN517202213400378634003786CT21:g.34003786C>TClinGen:CA10003130
NM_203446.3(SYNJ1):c.*319G>C8867SYNJ1Uncertain significancers565075239RCV001324878; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213400379634003796CG34003796-
NM_203446.3(SYNJ1):c.*316del8867SYNJ1Uncertain significancers1569014970RCV000692154; NMONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934213400379934003799GTG21:g.34003799_34003799del-C4479313 617389 Epileptic encephalopathy, early infantile, 53;
NM_203446.3(SYNJ1):c.*315G>A8867SYNJ1Benign/Likely benignrs145347648RCV000655783|RCV001569990; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411|MedGen:CN517202213400380034003800CT21:g.34003800C>TClinGen:CA10003133C4479313 617389 Epileptic encephalopathy, early infantile, 53;
NM_203446.3(SYNJ1):c.*312C>T8867SYNJ1Likely benignrs149199429RCV000655775; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213400380334003803GA21:g.34003803G>AClinGen:CA10003134
NM_203446.3(SYNJ1):c.*309T>G8867SYNJ1Uncertain significancers750670440RCV001323641; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213400380634003806AC34003806-
NM_203446.3(SYNJ1):c.*303T>G8867SYNJ1Likely benign-1RCV001461997; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213400381234003812AC34003812-
NM_203446.3(SYNJ1):c.*295A>G8867SYNJ1Uncertain significancers2039325513RCV001346312; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213400382034003820TC34003820-
NM_203446.3(SYNJ1):c.*276del8867SYNJ1Uncertain significancers1324658792RCV001306876; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213400383934003839TAT34003838-
NM_203446.3(SYNJ1):c.*270C>T8867SYNJ1Likely benign-1RCV001441980; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213400384534003845GA34003845-
NM_203446.3(SYNJ1):c.*265C>A8867SYNJ1Uncertain significancers769312346RCV001349070; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213400385034003850GT34003850-
NM_203446.3(SYNJ1):c.*257G>T8867SYNJ1Uncertain significancers112469776RCV000811994; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213400385834003858CA21:g.34003858C>A-
NM_203446.3(SYNJ1):c.*257G>A8867SYNJ1Uncertain significancers112469776RCV001323724; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213400385834003858CT34003858-
NM_203446.3(SYNJ1):c.*256C>T8867SYNJ1Uncertain significancers565341830RCV001052068; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213400385934003859GA21:g.34003859G>A-
NM_203446.3(SYNJ1):c.*253A>G8867SYNJ1Uncertain significancers1398328287RCV000791575; NMONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934213400386234003862TC21:g.34003862T>C-
NM_203446.3(SYNJ1):c.*227_*244dup8867SYNJ1Uncertain significancers1332100317RCV001312315; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213400387034003871TTGGGATTGACTCCGAGCTG34003870-
NM_203446.3(SYNJ1):c.*235A>C8867SYNJ1Uncertain significancers769099271RCV001067626; NMONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934213400388034003880TG21:g.34003880T>G-
NM_203446.3(SYNJ1):c.*234G>T8867SYNJ1Likely benignrs777299829RCV000538312; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213400388134003881CA21:g.34003881C>AClinGen:CA10003149C4479313 617389 Epileptic encephalopathy, early infantile, 53;
NM_203446.3(SYNJ1):c.*233G>A8867SYNJ1Uncertain significancers765410501RCV000818809; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213400388234003882CT21:g.34003882C>T-
NM_203446.3(SYNJ1):c.*223A>G8867SYNJ1Likely benignrs113978322RCV000525739; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213400389234003892TC21:g.34003892T>CClinGen:CA10003154
NM_203446.3(SYNJ1):c.*212C>T8867SYNJ1Uncertain significancers754791304RCV000690136; NMONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934213400390334003903GA21:g.34003903G>A-
NM_203446.3(SYNJ1):c.*195T>G8867SYNJ1Uncertain significancers1323976540RCV001348689; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213400392034003920AC34003920-
NM_203446.3(SYNJ1):c.*188T>C8867SYNJ1Uncertain significancers866258846RCV000655749; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213400392734003927AG21:g.34003927A>GClinGen:CA319450227
NM_203446.3(SYNJ1):c.*186_*187insAATAC8867SYNJ1Benignrs869265580RCV000655773; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213400392834003929AAGTATT21:g.34003928_34003929insGTATTClinGen:CA10003163
NM_203446.3(SYNJ1):c.*186_*187insAATACT8867SYNJ1Benignrs57257560RCV000713731|RCV001522159|RCV001579732; NMedGen:CN517202|MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934|MedGen:CN169374213400392834003929AAAGTATT21:g.34003928_34003929insAGTATT-
NM_203446.3(SYNJ1):c.*186_*187insATTACT8867SYNJ1Uncertain significancers57257560RCV001049561; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213400392834003929AAAGTAAT21:g.34003928_34003929insAGTAAT-
NM_203446.3(SYNJ1):c.*187T>C8867SYNJ1Likely benign-1RCV001447509; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213400392834003928AG34003928-
NM_203446.3(SYNJ1):c.*173C>T8867SYNJ1Uncertain significancers1341548536RCV000554414; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213400394234003942GA21:g.34003942G>AClinGen:CA410082740C4479313 617389 Epileptic encephalopathy, early infantile, 53;
NM_203446.3(SYNJ1):c.*158A>G8867SYNJ1Uncertain significancers1340359289RCV001221067; NMONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934213400395734003957TC21:g.34003957T>C-
NM_203446.3(SYNJ1):c.*132C>A8867SYNJ1Likely benign-1RCV001449292; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213400398334003983GT34003983-
NM_203446.3(SYNJ1):c.*127G>C8867SYNJ1Uncertain significancers1342453394RCV000820012; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213400398834003988CG21:g.34003988C>G-
NM_203446.3(SYNJ1):c.*124C>T8867SYNJ1Uncertain significancers770180376RCV001209325; NMONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934213400399134003991GA21:g.34003991G>A-
NM_203446.3(SYNJ1):c.*120G>A8867SYNJ1Likely benignrs377721268RCV000878186|RCV001459059; NMedGen:CN517202|MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213400399534003995CT21:g.34003995C>T-
NM_203446.3(SYNJ1):c.*119C>T8867SYNJ1Uncertain significance-1RCV001362047; NMONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934213400399634003996GA34003996-
NM_203446.3(SYNJ1):c.*110C>T8867SYNJ1Uncertain significancers959757570RCV001322931; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213400400534004005GA34004005-
NM_203446.3(SYNJ1):c.*108A>G8867SYNJ1Likely benignrs371381727RCV000983377; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213400400734004007TC21:g.34004007T>C-
NM_203446.3(SYNJ1):c.*100G>T8867SYNJ1Uncertain significancers2039335923RCV001227067; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213400401534004015CA21:g.34004015C>A-
NM_203446.3(SYNJ1):c.*89C>T8867SYNJ1Uncertain significance-1RCV001369313; NMONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934213400402634004026GA34004026-
NM_203446.3(SYNJ1):c.*88G>C8867SYNJ1Uncertain significance-1RCV001359311; NMONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934213400402734004027CG34004027-
NM_203446.3(SYNJ1):c.*75A>G8867SYNJ1Likely benign-1RCV001483430; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213400404034004040TC34004040-
NM_203446.3(SYNJ1):c.*60A>G8867SYNJ1Likely benign-1RCV001479143; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213400405534004055TC34004055-
NM_203446.3(SYNJ1):c.*21C>A8867SYNJ1Likely benign-1RCV001423818; NMONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934213400409434004094GT34004094-
NM_203446.3(SYNJ1):c.*9A>G8867SYNJ1Likely benign-1RCV001463098; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213400410634004106TC34004106-
NM_203446.3(SYNJ1):c.*4G>A8867SYNJ1Likely benignrs115648918RCV000541804|RCV001584365; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411|MedGen:CN517202213400411134004111CT21:g.34004111C>TClinGen:CA10003187
NM_203446.3(SYNJ1):c.3915+10A>G8867SYNJ1Likely benign-1RCV001400871; NMONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934213401120834011208TC34011208-
NM_203446.3(SYNJ1):c.3915+7C>G8867SYNJ1Likely benign-1RCV001460872; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213401121134011211GC34011211-
NM_203446.3(SYNJ1):c.3915+5G>T8867SYNJ1Benignrs61750220RCV000713730|RCV001079280; NMedGen:CN517202|MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213401121334011213CA21:g.34011213C>AClinGen:CA10003221
NM_203446.3(SYNJ1):c.3915+5G>A8867SYNJ1Uncertain significancers61750220RCV001059422; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213401121334011213CT21:g.34011213C>T-
NM_203446.3(SYNJ1):c.3912G>A (p.Pro1304=)8867SYNJ1Likely benignrs372695378RCV000655784; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213401122134011221CT21:g.34011221C>TClinGen:CA10003223
NM_203446.3(SYNJ1):c.3912G>T (p.Pro1304=)8867SYNJ1Likely benign-1RCV001396978; NMONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934213401122134011221CA34011221-
NM_203446.3(SYNJ1):c.3908A>G (p.Gln1303Arg)8867SYNJ1Uncertain significancers546986773RCV000655759; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213401122534011225TC21:g.34011225T>CClinGen:CA10003226C4479313 617389 Epileptic encephalopathy, early infantile, 53;
NM_203446.3(SYNJ1):c.3882T>G (p.His1294Gln)8867SYNJ1Uncertain significancers1569025711RCV000699190; NMONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934213401125134011251AC21:g.34011251A>C-C4479313 617389 Epileptic encephalopathy, early infantile, 53;
NM_203446.3(SYNJ1):c.3879C>G (p.Ser1293=)8867SYNJ1Likely benign-1RCV001498551; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213401125434011254GC34011254-
NM_203446.3(SYNJ1):c.3873G>T (p.Arg1291Ser)8867SYNJ1Uncertain significancers141669628RCV001323010; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213401126034011260CA34011260-
NM_203446.3(SYNJ1):c.3866G>C (p.Arg1289Pro)8867SYNJ1Uncertain significancers780038881RCV001315365; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213401126734011267CG34011267-
NM_203446.3(SYNJ1):c.3865C>T (p.Arg1289Ter)8867SYNJ1Pathogenic-1RCV001390943; NMONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934213401126834011268GA34011268-
NM_203446.3(SYNJ1):c.3837T>A (p.Asn1279Lys)8867SYNJ1Uncertain significancers1555888329RCV000655764; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213401129634011296AT21:g.34011296A>TClinGen:CA410086736C4479313 617389 Epileptic encephalopathy, early infantile, 53;
NM_203446.3(SYNJ1):c.3832C>A (p.Pro1278Thr)8867SYNJ1Uncertain significance-1RCV001365779; NMONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934213401130134011301GT34011301-
NM_203446.3(SYNJ1):c.3829dup (p.Gln1277fs)8867SYNJ1Uncertain significancers1555888341RCV000655760; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213401130334011304TTG21:g.34011303_34011304insGClinGen:CA658799407
NM_203446.3(SYNJ1):c.3823G>A (p.Gly1275Ser)8867SYNJ1Uncertain significancers1601231173RCV000815572; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213401131034011310CT21:g.34011310C>T-
NM_203446.3(SYNJ1):c.3811A>G (p.Met1271Val)8867SYNJ1Uncertain significancers751069566RCV000655758; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213401132234011322TC21:g.34011322T>CClinGen:CA10003243C4479313 617389 Epileptic encephalopathy, early infantile, 53;
NM_203446.3(SYNJ1):c.3807A>C (p.Ala1269=)8867SYNJ1Likely benign-1RCV001472147; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213401132634011326TG34011326-
NM_203446.3(SYNJ1):c.3806C>G (p.Ala1269Gly)8867SYNJ1Uncertain significancers2039705571RCV001348509; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213401132734011327GC34011327-
NM_203446.3(SYNJ1):c.3803C>T (p.Ala1268Val)8867SYNJ1Uncertain significancers1601231363RCV000813037; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213401133034011330GA21:g.34011330G>A-
NM_203446.3(SYNJ1):c.3797C>G (p.Pro1266Arg)8867SYNJ1Uncertain significancers767170641RCV000699952; NMONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934213401133634011336GC21:g.34011336G>C-C4479313 617389 Epileptic encephalopathy, early infantile, 53;
NM_203446.3(SYNJ1):c.3796C>T (p.Pro1266Ser)8867SYNJ1Uncertain significancers2039706224RCV001315226; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213401133734011337GA34011337-
NM_203446.3(SYNJ1):c.3786G>A (p.Glu1262=)8867SYNJ1Likely benign-1RCV001460454; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213401134734011347CT34011347-
NM_203446.3(SYNJ1):c.3783A>G (p.Gln1261=)8867SYNJ1Likely benign-1RCV001459674; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213401135034011350TC34011350-
NM_203446.3(SYNJ1):c.3780G>T (p.Leu1260Phe)8867SYNJ1Uncertain significancers758900160RCV001203719; NMONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934213401135334011353CA21:g.34011353C>A-
NM_203446.3(SYNJ1):c.3767C>T (p.Pro1256Leu)8867SYNJ1Uncertain significancers147025577RCV000692074; NMONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934213401136634011366GA21:g.34011366G>A-
NM_203446.3(SYNJ1):c.3764C>T (p.Pro1255Leu)8867SYNJ1Uncertain significancers141785091RCV001210832; NMONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934213401136934011369GA21:g.34011369G>A-
NM_203446.3(SYNJ1):c.3762C>T (p.Pro1254=)8867SYNJ1Likely benignrs201117151RCV000524929; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213401137134011371GA21:g.34011371G>AClinGen:CA10003258
NM_203446.3(SYNJ1):c.3753T>G (p.Ser1251=)8867SYNJ1Likely benign-1RCV001394880; NMONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934213401138034011380AC34011380-
NM_203446.3(SYNJ1):c.3749A>T (p.Gln1250Leu)8867SYNJ1Uncertain significancers1433204750RCV001302392; NMONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934213401138434011384TA34011384-
NM_203446.3(SYNJ1):c.3747G>T (p.Pro1249=)8867SYNJ1Likely benignrs138579227RCV000655786; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213401138634011386CA21:g.34011386C>AClinGen:CA10003263C4479313 617389 Epileptic encephalopathy, early infantile, 53;
NM_203446.3(SYNJ1):c.3747G>A (p.Pro1249=)8867SYNJ1Likely benignrs138579227RCV000917819; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213401138634011386CT21:g.34011386C>T-
NM_203446.3(SYNJ1):c.3746C>T (p.Pro1249Leu)8867SYNJ1Uncertain significancers149288077RCV000687228; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213401138734011387GA21:g.34011387G>A-C4479313 617389 Epileptic encephalopathy, early infantile, 53;
NM_203446.3(SYNJ1):c.3732G>A (p.Gln1244=)8867SYNJ1Likely benign-1RCV001454624; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213401140134011401CT34011401-
NM_203446.3(SYNJ1):c.3722T>C (p.Leu1241Pro)8867SYNJ1Uncertain significancers548516848RCV000548786; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213401141134011411AG21:g.34011411A>GClinGen:CA10003267C4479313 617389 Epileptic encephalopathy, early infantile, 53;
NM_203446.3(SYNJ1):c.3721C>T (p.Leu1241=)8867SYNJ1Benignrs2230766RCV000713729|RCV001518258|RCV001579328; NMedGen:CN517202|MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934|MedGen:CN169374213401141234011412GA21:g.34011412G>A-
NM_203446.3(SYNJ1):c.3714T>G (p.Pro1238=)8867SYNJ1Likely benign-1RCV001486915; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213401141934011419AC34011419-
NM_203446.3(SYNJ1):c.3697+10C>G8867SYNJ1Benign-1RCV001517085; NMONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934213401197134011971GC34011971-
NM_203446.3(SYNJ1):c.3697+8C>T8867SYNJ1Likely benign-1RCV001465110; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213401197334011973GA34011973-
NM_203446.3(SYNJ1):c.3691T>C (p.Ser1231Pro)8867SYNJ1Uncertain significancers767695759RCV000540996; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213401198734011987AG21:g.34011987A>GClinGen:CA10003293
NM_203446.3(SYNJ1):c.3690G>A (p.Thr1230=)8867SYNJ1Likely benignrs1446522492RCV000918677; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213401198834011988CT21:g.34011988C>T-
NM_203446.3(SYNJ1):c.3689C>T (p.Thr1230Met)8867SYNJ1Uncertain significancers752805765RCV000528408; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213401198934011989GA21:g.34011989G>AClinGen:CA10003294
NM_203446.3(SYNJ1):c.3688A>C (p.Thr1230Pro)8867SYNJ1Uncertain significancers2039743427RCV001343832; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213401199034011990TG34011990-
NM_203446.3(SYNJ1):c.3680C>G (p.Thr1227Arg)8867SYNJ1Uncertain significancers1275854378RCV001326130; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213401199834011998GC34011998-
NM_203446.3(SYNJ1):c.3673A>T (p.Ser1225Cys)8867SYNJ1Uncertain significancers2039744699RCV001220901; NMONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934213401200534012005TA21:g.34012005T>A-
NM_203446.3(SYNJ1):c.3652A>G (p.Arg1218Gly)8867SYNJ1Uncertain significancers139146760RCV000821336; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213401202634012026TC21:g.34012026T>C-
NM_203446.3(SYNJ1):c.3638G>A (p.Arg1213Gln)8867SYNJ1Uncertain significancers144048853RCV000549180|RCV000713728; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411|MedGen:CN517202213401204034012040CT21:g.34012040C>TClinGen:CA10003301
NM_203446.3(SYNJ1):c.3637C>T (p.Arg1213Trp)8867SYNJ1Uncertain significancers779662077RCV001319975; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213401204134012041GA34012041-
NM_203446.3(SYNJ1):c.3636G>A (p.Ala1212=)8867SYNJ1Likely benignrs576444776RCV000536527; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213401204234012042CT21:g.34012042C>TClinGen:CA10003304
NM_203446.3(SYNJ1):c.3635C>T (p.Ala1212Val)8867SYNJ1Likely benign-1RCV001398947; NMONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934213401204334012043GA34012043-
NM_203446.3(SYNJ1):c.3634G>A (p.Ala1212Thr)8867SYNJ1Uncertain significancers769125182RCV000800705; NMONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934213401204434012044CT21:g.34012044C>T-
NM_203446.3(SYNJ1):c.3633C>T (p.His1211=)8867SYNJ1Likely benignrs771394723RCV000919272; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213401204534012045GA21:g.34012045G>A-
NM_203446.3(SYNJ1):c.3610G>A (p.Val1204Ile)8867SYNJ1Uncertain significancers1569027714RCV000693739; NMONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934213401206834012068CT21:g.34012068C>T-C4479313 617389 Epileptic encephalopathy, early infantile, 53;
NM_203446.3(SYNJ1):c.3604G>T (p.Ala1202Ser)8867SYNJ1Uncertain significance-1RCV001364513; NMONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934213401207434012074CA34012074-
NM_203446.3(SYNJ1):c.3602G>A (p.Arg1201His)8867SYNJ1Uncertain significancers376836481RCV001246259|RCV001773559; NMONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934|MedGen:CN517202213401207634012076CT21:g.34012076C>T-
NM_203446.3(SYNJ1):c.3601C>T (p.Arg1201Cys)8867SYNJ1Conflicting interpretations of pathogenicityrs114994257RCV000784964|RCV000784965|RCV000784966|RCV001523237; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411|MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934|MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:003213401207734012077GA21:g.34012077G>A-
NM_203446.3(SYNJ1):c.3601C>G (p.Arg1201Gly)8867SYNJ1Uncertain significancers114994257RCV001038795; NMONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934213401207734012077GC21:g.34012077G>C-
NM_203446.3(SYNJ1):c.3598C>T (p.Pro1200Ser)8867SYNJ1Uncertain significance-1RCV001367871; NMONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934213401208034012080GA34012080-
NM_203446.3(SYNJ1):c.3591G>A (p.Thr1197=)8867SYNJ1Likely benignrs764207431RCV000952666; NMONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934213401208734012087CT21:g.34012087C>T-
NM_203446.3(SYNJ1):c.3590C>T (p.Thr1197Met)8867SYNJ1Likely benignrs145937537RCV000658922|RCV001079642; NMedGen:CN517202|MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213401208834012088GA21:g.34012088G>AClinGen:CA10003314
NM_203446.3(SYNJ1):c.3589-8A>T8867SYNJ1Likely benign-1RCV001493761; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213401209734012097TA34012097-
NM_203446.3(SYNJ1):c.3588+7A>G8867SYNJ1Likely benign-1RCV001487426; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213401419934014199TC34014199-
NM_203446.3(SYNJ1):c.3588G>A (p.Pro1196=)8867SYNJ1Uncertain significancers1160685381RCV000548087; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213401420634014206CT21:g.34014206C>TClinGen:CA512143858
NM_203446.3(SYNJ1):c.3587C>T (p.Pro1196Leu)8867SYNJ1Uncertain significancers61752550RCV000697536; NMONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934213401420734014207GA21:g.34014207G>A-C4479313 617389 Epileptic encephalopathy, early infantile, 53;
NM_203446.3(SYNJ1):c.3587C>A (p.Pro1196Gln)8867SYNJ1Uncertain significancers61752550RCV000698606; NMONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934213401420734014207GT21:g.34014207G>T-
NM_203446.3(SYNJ1):c.3585A>G (p.Arg1195=)8867SYNJ1Likely benignrs1404447301RCV000920785|RCV001503733; NMedGen:CN517202|MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213401420934014209TC21:g.34014209T>C-
NM_203446.3(SYNJ1):c.3584G>C (p.Arg1195Thr)8867SYNJ1Uncertain significancers1336877948RCV001054682; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213401421034014210CG21:g.34014210C>G-
NM_203446.3(SYNJ1):c.3581C>G (p.Ala1194Gly)8867SYNJ1Uncertain significancers779766895RCV000796047; NMONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934213401421334014213GC21:g.34014213G>C-
NM_203446.3(SYNJ1):c.3580G>C (p.Ala1194Pro)8867SYNJ1Uncertain significancers77164494RCV000655766; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213401421434014214CG21:g.34014214C>GClinGen:CA10003340
NM_203446.3(SYNJ1):c.3560G>A (p.Gly1187Glu)8867SYNJ1Uncertain significancers1601244421RCV001298521; NMONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934213401423434014234CT34014234-
NM_203446.3(SYNJ1):c.3554G>A (p.Gly1185Asp)8867SYNJ1Uncertain significancers1569030684RCV000688391; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213401424034014240CT21:g.34014240C>T-
NM_203446.3(SYNJ1):c.3547C>G (p.Leu1183Val)8867SYNJ1Uncertain significancers2039857400RCV001053334; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213401424734014247GC21:g.34014247G>C-
NM_203446.3(SYNJ1):c.3524G>C (p.Ser1175Thr)8867SYNJ1Uncertain significancers994115947RCV000655744; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213401427034014270CG21:g.34014270C>GClinGen:CA319422118
NM_203446.3(SYNJ1):c.3520C>T (p.Arg1174Cys)8867SYNJ1Uncertain significancers1367145848RCV001046232; NMONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934213401427434014274GA21:g.34014274G>A-
NM_203446.3(SYNJ1):c.3518-7G>T8867SYNJ1Benignrs2833929RCV000713727|RCV001522160|RCV001579669; NMedGen:CN517202|MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934|MedGen:CN169374213401428334014283CA21:g.34014283C>A-
NM_203446.3(SYNJ1):c.3517+10C>T8867SYNJ1Likely benign-1RCV001400246; NMONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934213401439534014395GA34014395-
NM_203446.3(SYNJ1):c.3517+7A>G8867SYNJ1Likely benign-1RCV001437549; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213401439834014398TC34014398-
NM_203446.3(SYNJ1):c.3489C>T (p.Ser1163=)8867SYNJ1Likely benign-1RCV001473164; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213401443334014433GA34014433-
NM_203446.3(SYNJ1):c.3481C>G (p.Pro1161Ala)8867SYNJ1Uncertain significancers1473250864RCV001221984; NMONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934213401444134014441GC21:g.34014441G>C-
NM_203446.3(SYNJ1):c.3476A>T (p.Glu1159Val)8867SYNJ1Uncertain significancers2039931880RCV001236801; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213401572234015722TA21:g.34015722T>A-
NM_203446.3(SYNJ1):c.3475G>A (p.Glu1159Lys)8867SYNJ1Uncertain significancers561276644RCV001349137; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213401572334015723CT34015723-
NM_203446.3(SYNJ1):c.3457del (p.Gly1152_Val1153insTer)8867SYNJ1Pathogenicrs2039933328RCV001222105; NMONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934213401574134015741ACA21:g.34015741_34015741del-
NM_203446.3(SYNJ1):c.3438dup (p.Ala1147fs)8867SYNJ1Pathogenic-1RCV001382931; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213401575934015760CCT34015759-
NM_203446.3(SYNJ1):c.3431G>A (p.Gly1144Asp)8867SYNJ1Uncertain significancers142964720RCV000535707|RCV001770500; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411|MedGen:CN517202213401576734015767CT21:g.34015767C>TClinGen:CA10003401
NM_203446.3(SYNJ1):c.3431-6A>G8867SYNJ1Likely benign-1RCV001458911; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213401577334015773TC34015773-
NM_203446.3(SYNJ1):c.3431-8C>A8867SYNJ1Uncertain significancers369584002RCV000798274; NMONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934213401577534015775GT21:g.34015775G>T-
NM_203446.3(SYNJ1):c.3431-10C>T8867SYNJ1Likely benign-1RCV001464118; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213401577734015777GA34015777-
NM_203446.3(SYNJ1):c.3410C>T (p.Pro1137Leu)8867SYNJ1Uncertain significancers569046864RCV000655767; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213401729834017298GA21:g.34017298G>AClinGen:CA10003418C4479313 617389 Epileptic encephalopathy, early infantile, 53;
NM_203446.3(SYNJ1):c.3409C>T (p.Pro1137Ser)8867SYNJ1Uncertain significancers1461988082RCV001315715; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213401729934017299GA34017299-
NM_203446.3(SYNJ1):c.3403C>T (p.Pro1135Ser)8867SYNJ1Uncertain significancers151126056RCV001046387|RCV001552430; NMONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934|MedGen:CN517202213401730534017305GA21:g.34017305G>A-
NM_203446.3(SYNJ1):c.3392-5A>G8867SYNJ1Uncertain significancers776721216RCV000797876; NMONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934213401732134017321TC21:g.34017321T>C-
NM_203446.3(SYNJ1):c.3392-5A>T8867SYNJ1Likely benignrs776721216RCV000977574; NMONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934213401732134017321TA21:g.34017321T>A-
NM_203446.3(SYNJ1):c.3392-8A>T8867SYNJ1Likely benignrs533064963RCV000929801; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213401732434017324TA21:g.34017324T>A-
NM_203446.3(SYNJ1):c.3392-10G>C8867SYNJ1Likely benign-1RCV001418521; NMONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934213401732634017326CG34017326-
NM_203446.3(SYNJ1):c.3391+6A>C8867SYNJ1Uncertain significancers745914222RCV001296530; NMONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934213401795034017950TG34017950-
NM_203446.3(SYNJ1):c.3378T>A (p.Pro1126=)8867SYNJ1Likely benign-1RCV001482779; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213401796934017969AT34017969-
NM_203446.3(SYNJ1):c.3376C>A (p.Pro1126Thr)8867SYNJ1Uncertain significancers1485482944RCV000815075|RCV001329149; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411|MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934213401797134017971GT21:g.34017971G>T-
NM_203446.3(SYNJ1):c.3369A>G (p.Pro1123=)8867SYNJ1Benign/Likely benignrs368850131RCV000713726|RCV001083407|RCV001644669; NMedGen:CN517202|MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411|MedGen:CN169374213401797834017978TC21:g.34017978T>CClinGen:CA10003439
NM_203446.3(SYNJ1):c.3368C>A (p.Pro1123Gln)8867SYNJ1Uncertain significancers748154988RCV001061834; NMONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934213401797934017979GT21:g.34017979G>T-
NM_203446.3(SYNJ1):c.3364C>T (p.Pro1122Ser)8867SYNJ1Uncertain significancers1274970038RCV001205063; NMONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934213401798334017983GA21:g.34017983G>A-
NM_203446.3(SYNJ1):c.3359C>T (p.Pro1120Leu)8867SYNJ1Uncertain significancers773242399RCV001257216; NMONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934213401798834017988GA21:g.34017988G>A-
NM_203446.3(SYNJ1):c.3357C>T (p.Arg1119=)8867SYNJ1Likely benignrs1601259728RCV000921992; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213401799034017990GA21:g.34017990G>A-
NM_203446.3(SYNJ1):c.3355C>A (p.Arg1119Ser)8867SYNJ1Uncertain significancers1157846436RCV001326798; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213401799234017992GT34017992-
NM_203446.3(SYNJ1):c.3352A>G (p.Thr1118Ala)8867SYNJ1Uncertain significancers1189796802RCV001063021; NMONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934213401799534017995TC21:g.34017995T>C-
NM_203446.3(SYNJ1):c.3347C>T (p.Pro1116Leu)8867SYNJ1Uncertain significancers765746949RCV001049739; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213401800034018000GA21:g.34018000G>A-
NM_203446.3(SYNJ1):c.3340G>A (p.Val1114Ile)8867SYNJ1Uncertain significancers527362526RCV001245323; NMONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934213401800734018007CT21:g.34018007C>T-
NM_203446.3(SYNJ1):c.3327G>A (p.Pro1109=)8867SYNJ1Likely benign-1RCV001493272; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213401802034018020CT34018020-
NM_203446.3(SYNJ1):c.3320G>A (p.Arg1107Gln)8867SYNJ1Uncertain significancers917502531RCV000690589; NMONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934213401802734018027CT21:g.34018027C>T-C4479313 617389 Epileptic encephalopathy, early infantile, 53;
NM_203446.3(SYNJ1):c.3304C>T (p.Pro1102Ser)8867SYNJ1Uncertain significancers1368672974RCV000655755; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213401804334018043GA21:g.34018043G>AClinGen:CA410068343C4479313 617389 Epileptic encephalopathy, early infantile, 53;
NM_203446.3(SYNJ1):c.3296C>T (p.Pro1099Leu)8867SYNJ1Uncertain significancers1447192933RCV001318469; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213401805134018051GA34018051-
NM_203446.3(SYNJ1):c.3290A>G (p.Lys1097Arg)8867SYNJ1Uncertain significancers946267411RCV000530098; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213401805734018057TC21:g.34018057T>CClinGen:CA319422840
NM_203446.3(SYNJ1):c.3281_3286del (p.Leu1094_Pro1095del)8867SYNJ1Uncertain significancers1283379982RCV000702703; NMONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934213401806134018066TGCGGCAT21:g.34018061_34018066del-
NM_203446.3(SYNJ1):c.3285G>A (p.Pro1095=)8867SYNJ1Likely benignrs376395608RCV000655782; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213401806234018062CT21:g.34018062C>TClinGen:CA10003451C4479313 617389 Epileptic encephalopathy, early infantile, 53;
NM_203446.3(SYNJ1):c.3285G>T (p.Pro1095=)8867SYNJ1Likely benignrs376395608RCV000941255; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213401806234018062CA21:g.34018062C>A-
NM_203446.3(SYNJ1):c.3275CGC[3] (p.Pro1093dup)8867SYNJ1Uncertain significance-1RCV001367909; NMONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934213401806634018067AAGCG34018066-
NM_203446.3(SYNJ1):c.3270A>G (p.Pro1090=)8867SYNJ1Likely benign-1RCV001410979; NMONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934213401807734018077TC34018077-
NM_203446.3(SYNJ1):c.3266A>G (p.Gln1089Arg)8867SYNJ1Uncertain significancers779932426RCV001343499; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213401808134018081TC34018081-
NM_203446.3(SYNJ1):c.3261C>T (p.Asp1087=)8867SYNJ1Likely benign-1RCV001474343; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213401808634018086GA34018086-
NM_203446.3(SYNJ1):c.3249T>G (p.Ser1083Arg)8867SYNJ1Uncertain significancers1396229702RCV001317134; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213401809834018098AC34018098-
NM_203446.3(SYNJ1):c.3248-6T>G8867SYNJ1Uncertain significancers567223330RCV001060692; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213401810534018105AC21:g.34018105A>C-
NM_203446.3(SYNJ1):c.3215C>A (p.Pro1072Gln)8867SYNJ1Uncertain significancers771524798RCV000685214; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213401873534018735GT21:g.34018735G>T-
NM_203446.3(SYNJ1):c.3209G>A (p.Arg1070Gln)8867SYNJ1Uncertain significancers141107054RCV000655746; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213401874134018741CT21:g.34018741C>TClinGen:CA10003485C4479313 617389 Epileptic encephalopathy, early infantile, 53;
NM_203446.3(SYNJ1):c.3205A>G (p.Ser1069Gly)8867SYNJ1Likely benignrs149817769RCV000557586; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213401874534018745TC21:g.34018745T>CClinGen:CA10003486
NM_203446.3(SYNJ1):c.3202C>G (p.Pro1068Ala)8867SYNJ1Uncertain significancers1374696982RCV001069121; NMONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934213401874834018748GC21:g.34018748G>C-
NM_203446.3(SYNJ1):c.3195C>T (p.Pro1065=)8867SYNJ1Likely benign-1RCV001462763; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213401875534018755GA34018755-
NM_203446.3(SYNJ1):c.3181G>C (p.Val1061Leu)8867SYNJ1Uncertain significancers753032623RCV001219325; NMONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934213401876934018769CG21:g.34018769C>G-
NM_203446.3(SYNJ1):c.3179C>G (p.Pro1060Arg)8867SYNJ1Uncertain significancers1430500307RCV000655762; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213401877134018771GC21:g.34018771G>CClinGen:CA410069312
NM_203446.3(SYNJ1):c.3175G>A (p.Gly1059Ser)8867SYNJ1Uncertain significancers2040073930RCV001064419; NMONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934213401877534018775CT21:g.34018775C>T-
NM_203446.3(SYNJ1):c.3145_3147dup (p.Ser1049dup)8867SYNJ1Uncertain significancers2040075484RCV001222312; NMONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934213401880234018803GGACT21:g.34018802_34018803insACT-
NM_203446.3(SYNJ1):c.3139C>G (p.Arg1047Gly)8867SYNJ1Uncertain significancers147931121RCV000699027; NMONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934213401881134018811GC21:g.34018811G>C-
NM_203446.3(SYNJ1):c.3126del (p.Ser1043fs)8867SYNJ1Pathogenicrs1230133310RCV001051902; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213401882434018824TGT21:g.34018824_34018824del-
NM_203446.3(SYNJ1):c.3097T>C (p.Ser1033Pro)8867SYNJ1Uncertain significancers61752559RCV000704245|RCV001333169; NMONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934|MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934213401885334018853AG21:g.34018853A>G-C4479313 617389 Epileptic encephalopathy, early infantile, 53;
NM_203446.3(SYNJ1):c.3057T>G (p.Ser1019Arg)8867SYNJ1Uncertain significancers767760891RCV000686383; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213401889334018893AC21:g.34018893A>C-C4479313 617389 Epileptic encephalopathy, early infantile, 53;
NM_203446.3(SYNJ1):c.3042T>A (p.Asp1014Glu)8867SYNJ1Uncertain significancers115353088RCV001060419; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213401890834018908AT21:g.34018908A>T-
NM_203446.3(SYNJ1):c.3036A>C (p.Glu1012Asp)8867SYNJ1Uncertain significancers2040223517RCV001066571; NMONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934213402249534022495TG21:g.34022495T>G-
NM_203446.3(SYNJ1):c.3007G>A (p.Ala1003Thr)8867SYNJ1Uncertain significancers911362591RCV001337508; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213402252434022524CT34022524-
NM_203446.3(SYNJ1):c.2997T>C (p.Leu999=)8867SYNJ1Likely benignrs111774827RCV000655777; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213402253434022534AG21:g.34022534A>GClinGen:CA10003532C4479313 617389 Epileptic encephalopathy, early infantile, 53;
NM_203446.3(SYNJ1):c.2996T>A (p.Leu999His)8867SYNJ1Uncertain significancers1601283152RCV000821417; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213402253534022535AT21:g.34022535A>T-
NM_203446.3(SYNJ1):c.2994G>A (p.Leu998=)8867SYNJ1Likely benign-1RCV001472018; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213402253734022537CT34022537-
NM_203446.3(SYNJ1):c.2981C>A (p.Thr994Lys)8867SYNJ1Uncertain significancers776726487RCV000819595; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213402255034022550GT21:g.34022550G>T-
NM_203446.3(SYNJ1):c.2976A>G (p.Ser992=)8867SYNJ1Likely benignrs115204185RCV000940079|RCV001506297; NMedGen:CN517202|MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213402255534022555TC21:g.34022555T>C-
NM_203446.3(SYNJ1):c.2958T>C (p.Ile986=)8867SYNJ1Likely benignrs879835661RCV000896725|RCV001471061; NMedGen:CN517202|MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213402257334022573AG21:g.34022573A>G-
NM_203446.3(SYNJ1):c.2955A>G (p.Lys985=)8867SYNJ1Likely benign-1RCV001425904; NMONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934213402257634022576TC34022576-
NM_203446.3(SYNJ1):c.2954A>G (p.Lys985Arg)8867SYNJ1Uncertain significancers1325187801RCV000824245; NMONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934213402257734022577TC21:g.34022577T>C-
NM_203446.3(SYNJ1):c.2943G>T (p.Met981Ile)8867SYNJ1Benign/Likely benignrs115683257RCV000655774|RCV001662715; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411|MedGen:CN517202213402258834022588CA21:g.34022588C>AClinGen:CA10003539C4479313 617389 Epileptic encephalopathy, early infantile, 53;
NM_203446.3(SYNJ1):c.2937A>G (p.Glu979=)8867SYNJ1Likely benign-1RCV001422927; NMONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934213402259434022594TC34022594-
NM_203446.3(SYNJ1):c.2909G>C (p.Ser970Thr)8867SYNJ1Likely benign-1RCV001425205; NMONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934213402262234022622CG34022622-
NM_203446.3(SYNJ1):c.2902T>G (p.Leu968Val)8867SYNJ1Uncertain significancers1372258834RCV001233196; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213402262934022629AC21:g.34022629A>C-
NM_203446.3(SYNJ1):c.2896A>G (p.Ile966Val)8867SYNJ1Uncertain significancers1601283648RCV000795373; NMONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934213402263534022635TC21:g.34022635T>C-
NM_203446.3(SYNJ1):c.2885G>A (p.Arg962Gln)8867SYNJ1Uncertain significancers371117480RCV001046770; NMONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934213402264634022646CT21:g.34022646C>T-
NM_203446.3(SYNJ1):c.2884C>T (p.Arg962Trp)8867SYNJ1Uncertain significancers149147152RCV000815512; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213402264734022647GA21:g.34022647G>A-
NM_203446.3(SYNJ1):c.2882A>G (p.Asn961Ser)8867SYNJ1Uncertain significancers754401787RCV000545053; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213402264934022649TC21:g.34022649T>CClinGen:CA319424147C4479313 617389 Epileptic encephalopathy, early infantile, 53;
NM_203446.3(SYNJ1):c.2875-5G>A8867SYNJ1Likely benignrs376206541RCV000532720|RCV001490505; NMedGen:CN517202|MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213402266134022661CT21:g.34022661C>TClinGen:CA10003547
NM_203446.3(SYNJ1):c.2875-6C>T8867SYNJ1Likely benignrs183558612RCV000973055; NMONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934213402266234022662GA21:g.34022662G>A-
NM_203446.3(SYNJ1):c.2874+6G>A8867SYNJ1Uncertain significancers368204504RCV000707385; NMONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934213402559234025592CT21:g.34025592C>T-
NM_203446.3(SYNJ1):c.2874+5G>A8867SYNJ1Conflicting interpretations of pathogenicityrs371765751RCV000552019|RCV000997819; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411|MedGen:CN517202213402559334025593CT21:g.34025593C>TClinGen:CA10003564C4479313 617389 Epileptic encephalopathy, early infantile, 53;
NM_203446.3(SYNJ1):c.2861T>G (p.Leu954Arg)8867SYNJ1Uncertain significancers755535504RCV001315044; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213402561134025611AC34025611-
NM_203446.3(SYNJ1):c.2860C>T (p.Leu954=)8867SYNJ1Likely benign-1RCV001466862; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213402561234025612GA34025612-
NM_203446.3(SYNJ1):c.2844C>T (p.Ala948=)8867SYNJ1Likely benignrs1432339434RCV000655772|RCV001431434; NMedGen:CN517202|MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213402562834025628GA21:g.34025628G>AClinGen:CA512150663C4479313 617389 Epileptic encephalopathy, early infantile, 53;
NM_203446.3(SYNJ1):c.2814G>A (p.Met938Ile)8867SYNJ1Uncertain significancers546854566RCV001062148; NMONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934213402565834025658CT21:g.34025658C>T-
NM_203446.3(SYNJ1):c.2802A>G (p.Val934=)8867SYNJ1Likely benign-1RCV001489371; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213402567034025670TC34025670-
NM_203446.3(SYNJ1):c.2795+10T>C8867SYNJ1Likely benignrs756959605RCV000932445; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213402898734028987AG21:g.34028987A>G-
NM_203446.3(SYNJ1):c.2795+7T>C8867SYNJ1Likely benign-1RCV001452648; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213402899034028990AG34028990-
NM_203446.3(SYNJ1):c.2793_2797del (p.Arg932fs)8867SYNJ1Pathogenicrs778394516RCV000691883; NMONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934213402899734029001CCTTATC21:g.34028997_34029001del-C4479313 617389 Epileptic encephalopathy, early infantile, 53;
NM_203446.3(SYNJ1):c.2792T>C (p.Ile931Thr)8867SYNJ1Uncertain significancers932390799RCV000655752; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213402900034029000AG21:g.34029000A>GClinGen:CA319425769C4479313 617389 Epileptic encephalopathy, early infantile, 53;
NM_203446.3(SYNJ1):c.2786T>C (p.Ile929Thr)8867SYNJ1Uncertain significancers755258923RCV000655756; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213402900634029006AG21:g.34029006A>GClinGen:CA10003594C4479313 617389 Epileptic encephalopathy, early infantile, 53;
NM_203446.3(SYNJ1):c.2786T>G (p.Ile929Arg)8867SYNJ1Uncertain significance-1RCV001362486; NMONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934213402900634029006AC34029006-
NM_203446.3(SYNJ1):c.2782G>A (p.Val928Ile)8867SYNJ1Uncertain significancers1327987813RCV001066066; NMONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934213402901034029010CT21:g.34029010C>T-
NM_203446.3(SYNJ1):c.2781A>G (p.Glu927=)8867SYNJ1Uncertain significancers1350091132RCV000694181; NMONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934213402901134029011TC21:g.34029011T>C-C4479313 617389 Epileptic encephalopathy, early infantile, 53;
NM_203446.3(SYNJ1):c.2766T>C (p.Phe922=)8867SYNJ1Likely benign-1RCV001443665; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213402902634029026AG34029026-
NM_203446.3(SYNJ1):c.2760G>C (p.Gln920His)8867SYNJ1Uncertain significancers777815557RCV001244206; NMONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934213402903234029032CG21:g.34029032C>G-
NM_203446.3(SYNJ1):c.2757G>T (p.Leu919=)8867SYNJ1Likely benign-1RCV001406669; NMONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934213402903534029035CA34029035-
NM_203446.3(SYNJ1):c.2744T>C (p.Ile915Thr)8867SYNJ1Uncertain significancers867564053RCV000701873; NMONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934213402904834029048AG21:g.34029048A>G-
NM_203446.3(SYNJ1):c.2744T>G (p.Ile915Ser)8867SYNJ1Uncertain significancers867564053RCV001245890; NMONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934213402904834029048AC21:g.34029048A>C-
NM_203446.3(SYNJ1):c.2739C>T (p.Ala913=)8867SYNJ1Likely benignrs267606107RCV000905639; NMONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934213402905334029053GA21:g.34029053G>A-
NM_203446.3(SYNJ1):c.2720A>G (p.Asn907Ser)8867SYNJ1Uncertain significancers542405957RCV001039499; NMONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934213402907234029072TC21:g.34029072T>C-
NM_203446.3(SYNJ1):c.2708C>G (p.Ser903Cys)8867SYNJ1Uncertain significancers373328306RCV001216706; NMONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934213402908434029084GC21:g.34029084G>C-
NM_203446.3(SYNJ1):c.2691G>A (p.Leu897=)8867SYNJ1Benignrs115263361RCV000923279; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213402910134029101CT21:g.34029101C>T-
NM_203446.3(SYNJ1):c.2685A>G (p.Thr895=)8867SYNJ1Uncertain significancers939655575RCV000806394; NMONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934213402910734029107TC21:g.34029107T>C-
NM_203446.3(SYNJ1):c.2685A>T (p.Thr895=)8867SYNJ1Likely benign-1RCV001497748; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213402910734029107TA34029107-
NM_203446.3(SYNJ1):c.2668G>C (p.Gly890Arg)8867SYNJ1Uncertain significancers1187688126RCV001071891; NMONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934213402912434029124CG21:g.34029124C>G-
NM_203446.3(SYNJ1):c.2653G>A (p.Val885Ile)8867SYNJ1Uncertain significancers763757097RCV000705648; NMONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934213402913934029139CT21:g.34029139C>T-C4479313 617389 Epileptic encephalopathy, early infantile, 53;
NM_203446.3(SYNJ1):c.2631G>C (p.Glu877Asp)8867SYNJ1Uncertain significancers375526059RCV000655747; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213402916134029161CG21:g.34029161C>GClinGen:CA10003608C4479313 617389 Epileptic encephalopathy, early infantile, 53;
NM_203446.3(SYNJ1):c.2609T>C (p.Ile870Thr)8867SYNJ1Uncertain significancers753305423RCV001222410; NMONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934213402918334029183AG21:g.34029183A>G-
NM_203446.3(SYNJ1):c.2608A>G (p.Ile870Val)8867SYNJ1Uncertain significancers2040476929RCV001348225; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213402918434029184TC34029184-
NM_203446.3(SYNJ1):c.2607T>C (p.Asp869=)8867SYNJ1Likely benign-1RCV001465164; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213402918534029185AG34029185-
NM_203446.3(SYNJ1):c.2604A>G (p.Ile868Met)8867SYNJ1Uncertain significancers377165480RCV000539702; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213402918834029188TC21:g.34029188T>CClinGen:CA10003614C4479313 617389 Epileptic encephalopathy, early infantile, 53;
NM_203446.3(SYNJ1):c.2603T>C (p.Ile868Thr)8867SYNJ1Uncertain significance-1RCV001373660; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213402918934029189AG34029189-
NM_203446.3(SYNJ1):c.2597T>C (p.Ile866Thr)8867SYNJ1Uncertain significancers114053718RCV000655751; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213402919534029195AG21:g.34029195A>GClinGen:CA10003616
NM_203446.3(SYNJ1):c.2587G>A (p.Val863Ile)8867SYNJ1Likely benign-1RCV001471926; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213402920534029205CT34029205-
NM_203446.3(SYNJ1):c.2586C>T (p.Val862=)8867SYNJ1Likely benignrs771973400RCV000531679; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213402920634029206GA21:g.34029206G>AClinGen:CA10003620C4479313 617389 Epileptic encephalopathy, early infantile, 53;
NM_203446.3(SYNJ1):c.2580-7C>T8867SYNJ1Likely benign-1RCV001402491; NMONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934213402921934029219GA34029219-
NM_203446.3(SYNJ1):c.2580-9T>C8867SYNJ1Likely benignrs1601308461RCV000938946|RCV001474685; NMedGen:CN517202|MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213402922134029221AG21:g.34029221A>G-
NM_203446.3(SYNJ1):c.2567C>A (p.Thr856Asn)8867SYNJ1Uncertain significancers1191504880RCV000798550; NMONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934213402932534029325GT21:g.34029325G>T-
NM_203446.3(SYNJ1):c.2547T>C (p.Tyr849=)8867SYNJ1Likely benignrs61756207RCV000953864; NMONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934213402934534029345AG21:g.34029345A>G-
NM_203446.3(SYNJ1):c.2541_2542delinsTT (p.His848Tyr)8867SYNJ1Likely benignrs1601309236RCV000938087; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213402935034029351GCAANC_000021.8:g.34029350_34029351delinsAA-
NM_203446.3(SYNJ1):c.2525C>T (p.Thr842Ile)8867SYNJ1Uncertain significancers370346211RCV001065439; NMONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934213402936734029367GA21:g.34029367G>A-
NM_203446.3(SYNJ1):c.2525C>A (p.Thr842Asn)8867SYNJ1Uncertain significance-1RCV001366504; NMONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934213402936734029367GT34029367-
NM_203446.3(SYNJ1):c.2524A>G (p.Thr842Ala)8867SYNJ1Uncertain significancers779943757RCV001237104; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213402936834029368TC21:g.34029368T>C-
NM_203446.3(SYNJ1):c.2519C>T (p.Thr840Met)8867SYNJ1Uncertain significancers560413403RCV000793880; NMONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934213402937334029373GA21:g.34029373G>A-
NM_203446.3(SYNJ1):c.2505C>A (p.Ser835Arg)8867SYNJ1Uncertain significancers748032685RCV001042341|RCV000997820|RCV001197985; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411|MedGen:CN517202|MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934213402938734029387GT21:g.34029387G>T-
NM_203446.3(SYNJ1):c.2475TCT[1] (p.Leu827del)8867SYNJ1Uncertain significancers769856515RCV000687857; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213402941234029414TAGAT21:g.34029412_34029414del-C4479313 617389 Epileptic encephalopathy, early infantile, 53;
NM_203446.3(SYNJ1):c.2472A>C (p.Leu824=)8867SYNJ1Likely benignrs1601309726RCV000915737|RCV001434092; NMedGen:CN517202|MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213402942034029420TG21:g.34029420T>G-
NM_203446.3(SYNJ1):c.2462-6C>A8867SYNJ1Uncertain significancers1601309850RCV000815447; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213402943634029436GT21:g.34029436G>T-
NM_203446.3(SYNJ1):c.2462-10C>G8867SYNJ1Uncertain significancers775703634RCV000655763; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213402944034029440GC21:g.34029440G>CClinGen:CA10003656C4479313 617389 Epileptic encephalopathy, early infantile, 53;
NM_203446.3(SYNJ1):c.2446C>T (p.Pro816Ser)8867SYNJ1Uncertain significancers1473591033RCV001326934; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213403004134030041GA34030041-
NM_203446.3(SYNJ1):c.2439G>A (p.Arg813=)8867SYNJ1Likely benign-1RCV001392287; NMONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934213403004834030048CT34030048-
NM_203446.3(SYNJ1):c.2403C>T (p.Thr801=)8867SYNJ1Likely benign-1RCV001425188; NMONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934213403008434030084GA34030084-
NM_203446.3(SYNJ1):c.2378A>G (p.Tyr793Cys)8867SYNJ1Uncertain significancers1283151166RCV000703018; NMONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934213403010934030109TC21:g.34030109T>C-
NM_203446.3(SYNJ1):c.2373C>T (p.Asp791=)8867SYNJ1Likely benign-1RCV001423380; NMONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934213403011434030114GA34030114-
NM_203446.3(SYNJ1):c.2372A>G (p.Asp791Gly)8867SYNJ1Uncertain significancers1195357077RCV001347848; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213403011534030115TC34030115-
NM_203446.3(SYNJ1):c.2364G>C (p.Leu788Phe)8867SYNJ1Uncertain significancers2040517909RCV001040571; NMONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934213403012334030123CG21:g.34030123C>G-
NM_203446.3(SYNJ1):c.2352T>C (p.Tyr784=)8867SYNJ1Likely benign-1RCV001413761; NMONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934213403013534030135AG34030135-
NM_203446.3(SYNJ1):c.2346G>A (p.Pro782=)8867SYNJ1Likely benignrs61753644RCV000555768|RCV001591312; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411|MedGen:CN517202213403014134030141CT21:g.34030141C>TClinGen:CA10003678C4479313 617389 Epileptic encephalopathy, early infantile, 53;
NM_203446.3(SYNJ1):c.2332G>A (p.Val778Ile)8867SYNJ1Uncertain significancers762956275RCV001307745; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213403015534030155CT34030155-
NM_203446.3(SYNJ1):c.2325A>G (p.Glu775=)8867SYNJ1Likely benign-1RCV001432448; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213403016234030162TC34030162-
NM_203446.3(SYNJ1):c.2304+9A>G8867SYNJ1Likely benign-1RCV001436598; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213403721434037214TC34037214-
NM_203446.3(SYNJ1):c.2295T>C (p.Asn765=)8867SYNJ1Likely benign-1RCV001461471; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213403723234037232AG34037232-
NM_203446.3(SYNJ1):c.2282T>C (p.Ile761Thr)8867SYNJ1Uncertain significancers373953139RCV001070349; NMONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934213403724534037245AG21:g.34037245A>G-
NM_203446.3(SYNJ1):c.2254G>T (p.Asp752Tyr)8867SYNJ1Uncertain significancers145978776RCV000695137|RCV001529862; NMONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934|MedGen:CN517202213403727334037273CA21:g.34037273C>A-C4479313 617389 Epileptic encephalopathy, early infantile, 53;
NM_203446.3(SYNJ1):c.2254del (p.Asp752fs)8867SYNJ1Likely pathogenicrs2040866242RCV001281693; NMONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213403727334037273TCT34037272-
NM_203446.3(SYNJ1):c.2250T>A (p.Asn750Lys)8867SYNJ1Uncertain significancers570501803RCV000809591; NMONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934213403727734037277AT21:g.34037277A>T-
NM_203446.3(SYNJ1):c.2236A>C (p.Ile746Leu)8867SYNJ1Uncertain significancers2040867077RCV001063828; NMONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934213403729134037291TG21:g.34037291T>G-
NM_203446.3(SYNJ1):c.2226T>A (p.Val742=)8867SYNJ1Benignrs566533509RCV000655770; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213403730134037301AT21:g.34037301A>TClinGen:CA10003708C4479313 617389 Epileptic encephalopathy, early infantile, 53;
NM_203446.3(SYNJ1):c.2223A>G (p.Glu741=)8867SYNJ1Likely benign-1RCV001429295; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213403730434037304TC34037304-
NM_203446.3(SYNJ1):c.2217C>T (p.Asn739=)8867SYNJ1Likely benign-1RCV001501400; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213403731034037310GA34037310-
NM_203446.3(SYNJ1):c.2205C>T (p.Ile735=)8867SYNJ1Likely benignrs149236383RCV000919206; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213403732234037322GA21:g.34037322G>A-
NM_203446.3(SYNJ1):c.2202A>C (p.Arg734=)8867SYNJ1Likely benign-1RCV001494939; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213403732534037325TG34037325-
NM_203446.3(SYNJ1):c.2201G>A (p.Arg734Gln)8867SYNJ1Uncertain significance-1RCV001366805; NMONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934213403732634037326CT34037326-
NM_203446.3(SYNJ1):c.2172T>C (p.Tyr724=)8867SYNJ1Likely benignrs144454116RCV000880161; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213403735534037355AG21:g.34037355A>G-
NM_203446.3(SYNJ1):c.2171A>G (p.Tyr724Cys)8867SYNJ1Uncertain significancers201485861RCV000690036; NMONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934213403735634037356TC21:g.34037356T>C-
NM_203446.3(SYNJ1):c.2157A>G (p.Leu719=)8867SYNJ1Likely benignrs112875942RCV000915369; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213403737034037370TC21:g.34037370T>C-
NM_203446.3(SYNJ1):c.2146-8G>A8867SYNJ1Likely benignrs759701632RCV000655781; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213403738934037389CT21:g.34037389C>TClinGen:CA10003721
NM_203446.3(SYNJ1):c.2125C>G (p.Arg709Gly)8867SYNJ1Uncertain significancers2040913777RCV001322372; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213403827334038273GC34038273-
NM_203446.3(SYNJ1):c.2120T>C (p.Ile707Thr)8867SYNJ1Conflicting interpretations of pathogenicityrs147929290RCV000655757|RCV001531537; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411|MedGen:CN517202213403827834038278AG21:g.34038278A>GClinGen:CA10003744C4479313 617389 Epileptic encephalopathy, early infantile, 53;
NM_203446.3(SYNJ1):c.2113A>G (p.Ile705Val)8867SYNJ1Uncertain significancers761614356RCV001042712; NMONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934213403828534038285TC21:g.34038285T>C-
NM_203446.3(SYNJ1):c.2113A>T (p.Ile705Leu)8867SYNJ1Uncertain significance-1RCV001365793; NMONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934213403828534038285TA34038285-
NM_203446.3(SYNJ1):c.2090T>C (p.Val697Ala)8867SYNJ1Uncertain significancers764946363RCV000804235; NMONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934213403830834038308AG21:g.34038308A>G-
NM_203446.3(SYNJ1):c.2079G>A (p.Gly693=)8867SYNJ1Likely benign-1RCV001454430; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213403831934038319CT34038319-
NM_203446.3(SYNJ1):c.2076A>T (p.Ala692=)8867SYNJ1Likely benign-1RCV001451809; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213403832234038322TA34038322-
NM_203446.3(SYNJ1):c.2050T>G (p.Cys684Gly)8867SYNJ1Uncertain significancers751110096RCV001296998; NMONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934213403834834038348AC34038348-
NM_203446.3(SYNJ1):c.2047C>T (p.Leu683Phe)8867SYNJ1Uncertain significancers2040916269RCV001041815; NMONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934213403835134038351GA21:g.34038351G>A-
NM_203446.3(SYNJ1):c.2025A>G (p.Arg675=)8867SYNJ1Likely benign-1RCV001431935; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213403837334038373TC34038373-
NM_203446.3(SYNJ1):c.1971T>C (p.Thr657=)8867SYNJ1Benign-1RCV001519298; NMONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934213403842734038427AG34038427-
NM_203446.3(SYNJ1):c.1968T>C (p.Asp656=)8867SYNJ1Likely benignrs140112176RCV000925322|RCV001499277; NMedGen:CN517202|MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213403843034038430AG21:g.34038430A>G-
NM_203446.3(SYNJ1):c.1961C>T (p.Ala654Val)8867SYNJ1Uncertain significancers2040918972RCV001215540; NMONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934213403843734038437GA21:g.34038437G>A-
NM_203446.3(SYNJ1):c.1957G>A (p.Val653Ile)8867SYNJ1Uncertain significancers1456047190RCV001050555; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213403844134038441CT21:g.34038441C>T-
NM_203446.3(SYNJ1):c.1953-10T>C8867SYNJ1Likely benign-1RCV001412194; NMONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934213403845534038455AG34038455-
NM_203446.3(SYNJ1):c.1933_1934delinsAG (p.Gln645Arg)8867SYNJ1Uncertain significancers1555896707RCV000538615; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213403876134038762TGCTNC_000021.8:g.34038761_34038762delinsCTClinGen:CA658658885
NM_203446.3(SYNJ1):c.1914G>A (p.Leu638=)8867SYNJ1Benignrs534908601RCV000655771; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213403878134038781CT21:g.34038781C>TClinGen:CA10003778
NM_203446.3(SYNJ1):c.1906G>A (p.Val636Ile)8867SYNJ1Conflicting interpretations of pathogenicityrs373820739RCV000527465|RCV000784961|RCV000784962|RCV000784963; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411|MONDO:MONDO:003213403878934038789CT21:g.34038789C>TClinGen:CA10003779
NM_203446.3(SYNJ1):c.1886C>T (p.Ala629Val)8867SYNJ1Uncertain significancers773372851RCV001245514; NMONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934213403880934038809GA21:g.34038809G>A-
NM_203446.3(SYNJ1):c.1878G>A (p.Val626=)8867SYNJ1Likely benignrs1601348321RCV000981561; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213403881734038817CT21:g.34038817C>T-
NM_203446.3(SYNJ1):c.1876G>A (p.Val626Met)8867SYNJ1Uncertain significancers2040938849RCV001039021; NMONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934213403881934038819CT21:g.34038819C>T-
NM_203446.3(SYNJ1):c.1868A>G (p.Asn623Ser)8867SYNJ1Uncertain significancers1298315820RCV001346170; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213403882734038827TC34038827-
NM_203446.3(SYNJ1):c.1867A>G (p.Asn623Asp)8867SYNJ1Uncertain significancers377719553RCV001210497; NMONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934213403882834038828TC21:g.34038828T>C-
NM_203446.3(SYNJ1):c.1846C>A (p.Gln616Lys)8867SYNJ1Uncertain significancers2040940591RCV001224989; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213403884934038849GT21:g.34038849G>T-
NM_203446.3(SYNJ1):c.1835C>A (p.Ala612Asp)8867SYNJ1Uncertain significancers2040941103RCV001059002; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213403886034038860GT21:g.34038860G>T-
NM_203446.3(SYNJ1):c.1832G>T (p.Trp611Leu)8867SYNJ1Uncertain significancers1481650772RCV000655765; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213403886334038863CA21:g.34038863C>AClinGen:CA410081076
NM_203446.3(SYNJ1):c.1830C>G (p.Leu610=)8867SYNJ1Likely benignrs115658799RCV000551316; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213403886534038865GC21:g.34038865G>CClinGen:CA10003788C4479313 617389 Epileptic encephalopathy, early infantile, 53;
NM_203446.3(SYNJ1):c.1825A>C (p.Lys609Gln)8867SYNJ1Uncertain significancers760221186RCV001341639; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213403887034038870TG34038870-
NM_203446.3(SYNJ1):c.1812-10T>A8867SYNJ1Uncertain significancers2040942245RCV001240182; NMONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934213403889334038893AT21:g.34038893A>T-
NM_203446.3(SYNJ1):c.1800T>C (p.Ile600=)8867SYNJ1Likely benign-1RCV001432872; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213404260934042609AG34042609-
NM_203446.3(SYNJ1):c.1789G>A (p.Ala597Thr)8867SYNJ1Uncertain significancers1601363222RCV000795490; NMONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934213404262034042620CT21:g.34042620C>T-
NM_203446.3(SYNJ1):c.1728T>C (p.Asp576=)8867SYNJ1Likely benign-1RCV001454851; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213404268134042681AG34042681-
NM_203446.3(SYNJ1):c.1719G>A (p.Glu573=)8867SYNJ1Likely benign-1RCV001499069; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213404565734045657CT34045657-
NM_203446.3(SYNJ1):c.1717G>C (p.Glu573Gln)8867SYNJ1Uncertain significancers1057062132RCV001209351; NMONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934213404565934045659CG21:g.34045659C>G-
NM_203446.3(SYNJ1):c.1707T>G (p.Ala569=)8867SYNJ1Likely benignrs1384171922RCV000891130; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213404566934045669AC21:g.34045669A>C-
NM_203446.3(SYNJ1):c.1701G>C (p.Lys567Asn)8867SYNJ1Uncertain significancers147684005RCV001319134; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213404567534045675CG34045675-
NM_203446.3(SYNJ1):c.1671A>G (p.Thr557=)8867SYNJ1Likely benign-1RCV001401524; NMONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934213404570534045705TC34045705-
NM_203446.3(SYNJ1):c.1659T>C (p.Phe553=)8867SYNJ1Likely benign-1RCV001399892; NMONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934213404571734045717AG34045717-
NM_203446.3(SYNJ1):c.1641A>G (p.Gln547=)8867SYNJ1Likely benignrs753893833RCV000932362|RCV001498069; NMedGen:CN517202|MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213404573534045735TC21:g.34045735T>C-
NM_203446.3(SYNJ1):c.1611C>T (p.Val537=)8867SYNJ1Likely benignrs150180190RCV000977583; NMONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934213404576534045765GA21:g.34045765G>A-
NM_203446.3(SYNJ1):c.1611C>G (p.Val537=)8867SYNJ1Likely benign-1RCV001492901; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213404576534045765GC34045765-
NM_203446.3(SYNJ1):c.1609G>A (p.Val537Ile)8867SYNJ1Uncertain significancers1555898799RCV000655753; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213404576734045767CT21:g.34045767C>TClinGen:CA410085364
NM_203446.3(SYNJ1):c.1603G>A (p.Val535Ile)8867SYNJ1Uncertain significancers145712835RCV000698348; NMONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934213404577334045773CT21:g.34045773C>T-
NM_203446.3(SYNJ1):c.1601G>A (p.Arg534Gln)8867SYNJ1Uncertain significancers750585610RCV001300977; NMONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934213404577534045775CT34045775-
NM_203446.3(SYNJ1):c.1555A>G (p.Ser519Gly)8867SYNJ1Uncertain significancers148901211RCV000538976|RCV001171961; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411|MedGen:CN517202213404582134045821TC21:g.34045821T>CClinGen:CA10003845C4479313 617389 Epileptic encephalopathy, early infantile, 53;
NM_203446.3(SYNJ1):c.1554G>C (p.Lys518Asn)8867SYNJ1Uncertain significancers371301276RCV000822292; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213404582234045822CG21:g.34045822C>G-
NM_203446.3(SYNJ1):c.1546G>A (p.Val516Ile)8867SYNJ1Benignrs113708828RCV000526405; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213404583034045830CT21:g.34045830C>TClinGen:CA10003848C4479313 617389 Epileptic encephalopathy, early infantile, 53;
NM_203446.3(SYNJ1):c.1535C>T (p.Ala512Val)8867SYNJ1Likely benignrs115989459RCV000655776; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213404584134045841GA21:g.34045841G>AClinGen:CA10003850
NM_203446.3(SYNJ1):c.1534+5A>G8867SYNJ1Uncertain significancers367718431RCV001062078; NMONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934213404863734048637TC21:g.34048637T>C-
NM_203446.3(SYNJ1):c.1511-4A>G8867SYNJ1Likely benignrs533995497RCV000941256; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213404866934048669TC21:g.34048669T>C-
NM_203446.3(SYNJ1):c.1508G>A (p.Arg503His)8867SYNJ1Uncertain significancers756697570RCV000696652; NMONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934213405095734050957CT21:g.34050957C>T-C4479313 617389 Epileptic encephalopathy, early infantile, 53;
NM_203446.3(SYNJ1):c.1507C>T (p.Arg503Cys)8867SYNJ1Uncertain significancers115061921RCV000799986; NMONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934213405095834050958GA21:g.34050958G>A-
NM_203446.3(SYNJ1):c.1481G>A (p.Arg494Gln)8867SYNJ1Uncertain significancers781599934RCV000538149; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213405098434050984CT21:g.34050984C>TClinGen:CA10003896C4479313 617389 Epileptic encephalopathy, early infantile, 53;
NM_203446.3(SYNJ1):c.1466T>C (p.Leu489Ser)8867SYNJ1Uncertain significancers1238065971RCV000655761; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213405099934050999AG21:g.34050999A>GClinGen:CA410089203C4479313 617389 Epileptic encephalopathy, early infantile, 53;
NM_203446.3(SYNJ1):c.1465T>G (p.Leu489Val)8867SYNJ1Uncertain significancers1261158817RCV001208621; NMONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934213405100034051000AC21:g.34051000A>C-
NM_203446.3(SYNJ1):c.1449T>G (p.Asn483Lys)8867SYNJ1Uncertain significancers1490214505RCV000817025; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213405101634051016AC21:g.34051016A>C-
NM_203446.3(SYNJ1):c.1427T>C (p.Ile476Thr)8867SYNJ1Uncertain significancers771070426RCV001324014; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213405103834051038AG34051038-
NM_203446.3(SYNJ1):c.1400T>A (p.Phe467Tyr)8867SYNJ1Uncertain significancers922232672RCV001313903; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213405106534051065AT34051065-
NM_203446.3(SYNJ1):c.1399T>C (p.Phe467Leu)8867SYNJ1Uncertain significancers2041510835RCV001309541; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213405106634051066AG34051066-
NM_203446.3(SYNJ1):c.1370G>A (p.Arg457His)8867SYNJ1Uncertain significance-1RCV001360277; NMONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934213405109534051095CT34051095-
NM_203446.3(SYNJ1):c.1367C>A (p.Ala456Asp)8867SYNJ1Uncertain significancers2041512501RCV001248168; NMONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934213405109834051098GT21:g.34051098G>T-
NM_203446.3(SYNJ1):c.1353+5A>G8867SYNJ1Uncertain significancers376825246RCV001217662; NMONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934213405380134053801TC21:g.34053801T>C-
NM_203446.3(SYNJ1):c.1349C>A (p.Ala450Glu)8867SYNJ1Uncertain significancers1416896181RCV001059202; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213405381034053810GT21:g.34053810G>T-
NM_203446.3(SYNJ1):c.1323A>G (p.Ala441=)8867SYNJ1Likely benignrs1468223961RCV000976420|RCV001495830; NMedGen:CN517202|MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934213405383634053836TC21:g.34053836T>C-
NM_203446.3(SYNJ1):c.1315A>G (p.Ile439Val)8867SYNJ1Uncertain significancers1569085743RCV001315095; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213405384434053844TC34053844-
NM_203446.3(SYNJ1):c.1311T>C (p.Ser437=)8867SYNJ1Likely benign-1RCV001479425; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213405384834053848AG34053848-
NM_203446.3(SYNJ1):c.1306A>G (p.Ile436Val)8867SYNJ1Uncertain significancers763870801RCV000655754; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213405385334053853TC21:g.34053853T>CClinGen:CA10003924
NM_203446.3(SYNJ1):c.1291G>A (p.Val431Met)8867SYNJ1Uncertain significancers749980859RCV000800971; NMONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934213405386834053868CT21:g.34053868C>T-
NM_203446.3(SYNJ1):c.1279_1280dup (p.Met428fs)8867SYNJ1Pathogenic-1RCV001389214; NMONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934213405387834053879TTGA34053878-
NM_203446.3(SYNJ1):c.1277G>A (p.Arg426Gln)8867SYNJ1Uncertain significancers1601403500RCV000997823|RCV001205779; NMedGen:CN517202|MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213405388234053882CT21:g.34053882C>T-
NM_203446.3(SYNJ1):c.1265A>C (p.Gln422Pro)8867SYNJ1Uncertain significancers1474918219RCV001337826; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213405389434053894TG34053894-
NM_203446.3(SYNJ1):c.1259G>C (p.Arg420Pro)8867SYNJ1Pathogenicrs1060499619RCV000445361; NMONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213405390034053900CG21:g.34053900C>GClinGen:CA16609345,OMIM:604297.0002
NM_203446.3(SYNJ1):c.1257T>G (p.Thr419=)8867SYNJ1Likely benign-1RCV001498863; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213405390234053902AC34053902-
NM_203446.3(SYNJ1):c.1245T>C (p.Pro415=)8867SYNJ1Likely benignrs111655347RCV000915370; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213405391434053914AG21:g.34053914A>G-
NM_203446.3(SYNJ1):c.1201-2A>G8867SYNJ1Likely pathogenicrs1569086116RCV000691672; NMONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934213405396034053960TC21:g.34053960T>C-C4479313 617389 Epileptic encephalopathy, early infantile, 53;
NM_203446.3(SYNJ1):c.1201-3A>T8867SYNJ1Benign-1RCV001518259|RCV001579407|RCV001712932; NMONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934|MedGen:CN169374|MedGen:CN517202213405396134053961TA34053961-
NM_203446.3(SYNJ1):c.1182G>A (p.Gln394=)8867SYNJ1Benign-1RCV001520167; NMONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934213405636634056366CT34056366-
NM_203446.3(SYNJ1):c.1179G>T (p.Val393=)8867SYNJ1Likely benign-1RCV001472588; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213405636934056369CA34056369-
NM_203446.3(SYNJ1):c.1176T>C (p.Ser392=)8867SYNJ1Likely benign-1RCV001421190; NMONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934213405637234056372AG34056372-
NM_203446.3(SYNJ1):c.1167A>G (p.Arg389=)8867SYNJ1Likely benignrs747274485RCV000934741|RCV001432807; NMedGen:CN517202|MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213405638134056381TC21:g.34056381T>C-
NM_203446.3(SYNJ1):c.1157G>A (p.Cys386Tyr)8867SYNJ1Uncertain significancers2041732521RCV001053016; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213405639134056391CT21:g.34056391C>T-
NM_203446.3(SYNJ1):c.1150T>C (p.Leu384=)8867SYNJ1Likely benign-1RCV001397364; NMONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934213405639834056398AG34056398-
NM_203446.3(SYNJ1):c.1126A>G (p.Ser376Gly)8867SYNJ1Uncertain significancers1163151498RCV001046908; NMONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934213405642234056422TC21:g.34056422T>C-
NM_203446.3(SYNJ1):c.1119-7G>C8867SYNJ1Likely benignrs562245468RCV000915086|RCV001500573; NMedGen:CN517202|MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213405643634056436CG21:g.34056436C>G-
NM_203446.3(SYNJ1):c.1119-8G>T8867SYNJ1Benignrs138882423RCV000548562|RCV001288849|RCV001595020; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411|MedGen:CN169374|MedGen:CN517202213405643734056437CA21:g.34056437C>AClinGen:CA10003962C4479313 617389 Epileptic encephalopathy, early infantile, 53;
NM_203446.3(SYNJ1):c.1118+9G>A8867SYNJ1Likely benign-1RCV001427550; NMONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934213405804934058049CT34058049-
NM_203446.3(SYNJ1):c.1106G>A (p.Ser369Asn)8867SYNJ1Uncertain significancers147544792RCV000706776; NMONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934213405807034058070CT21:g.34058070C>T-C4479313 617389 Epileptic encephalopathy, early infantile, 53;
NM_203446.3(SYNJ1):c.1093dup (p.Tyr365fs)8867SYNJ1Pathogenic-1RCV001387875; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213405808234058083TTA34058082-
NM_203446.3(SYNJ1):c.1081T>A (p.Tyr361Asn)8867SYNJ1Benignrs533216340RCV000908890; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213405809534058095AT21:g.34058095A>T-
NM_203446.3(SYNJ1):c.1046G>T (p.Ser349Ile)8867SYNJ1Uncertain significancers748368610RCV001226521; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213405813034058130CA21:g.34058130C>A-
NM_203446.3(SYNJ1):c.1045A>G (p.Ser349Gly)8867SYNJ1Likely benign-1RCV001441239; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213405813134058131TC34058131-
NM_203446.3(SYNJ1):c.1042C>A (p.His348Asn)8867SYNJ1Uncertain significancers2041820050RCV001229270; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213405813434058134GT21:g.34058134G>T-
NM_203446.3(SYNJ1):c.1030G>A (p.Ala344Thr)8867SYNJ1Likely benignrs114942253RCV000535919|RCV001086242; NMedGen:CN517202|MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213405814634058146CT21:g.34058146C>TClinGen:CA10003981
NM_203446.3(SYNJ1):c.1017T>C (p.Val339=)8867SYNJ1Likely benign-1RCV001504874; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213405815934058159AG34058159-
NM_203446.3(SYNJ1):c.1004A>C (p.Tyr335Ser)8867SYNJ1Uncertain significancers1469620917RCV000823534; NMONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934213405817234058172TG21:g.34058172T>G-
NM_203446.3(SYNJ1):c.1002C>T (p.Asp334=)8867SYNJ1Likely benignrs763601982RCV000560027; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213405817434058174GA21:g.34058174G>AClinGen:CA319447596C4479313 617389 Epileptic encephalopathy, early infantile, 53;
NM_203446.3(SYNJ1):c.988A>T (p.Met330Leu)8867SYNJ1Uncertain significance-1RCV001365865; NMONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934213405818834058188TA34058188-
NM_203446.3(SYNJ1):c.981T>C (p.Asp327=)8867SYNJ1Likely benign-1RCV001408810; NMONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934213405819534058195AG34058195-
NM_203446.3(SYNJ1):c.969A>G (p.Glu323=)8867SYNJ1Likely benignrs1601418926RCV000944205|RCV001476495; NMedGen:CN517202|MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934213405820734058207TC21:g.34058207T>C-
NM_203446.3(SYNJ1):c.952C>A (p.His318Asn)8867SYNJ1Uncertain significancers2041822657RCV001351416; NMONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934213405822434058224GT34058224-
NM_203446.3(SYNJ1):c.949-31_949-2del8867SYNJ1Likely benignrs1281313151RCV000931704|RCV001505970; NMedGen:CN517202|MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213405822934058258CTGAAAGTAAAAAGGCAAATATTCATCTAAAC21:g.34058229_34058258del-
NM_203446.3(SYNJ1):c.948+7A>G8867SYNJ1Likely benign-1RCV001392285; NMONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934213405928134059281TC34059281-
NM_203446.3(SYNJ1):c.948G>C (p.Gln316His)8867SYNJ1Uncertain significancers1569093889RCV001307078; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213405928834059288CG34059288-
NM_203446.3(SYNJ1):c.930G>A (p.Met310Ile)8867SYNJ1Uncertain significancers749045961RCV000697724; NMONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934213405930634059306CT21:g.34059306C>T-C4479313 617389 Epileptic encephalopathy, early infantile, 53;
NM_203446.3(SYNJ1):c.909A>G (p.Gly303=)8867SYNJ1Likely benignrs145522240RCV000542163|RCV001726247; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411|MedGen:CN517202213405932734059327TC21:g.34059327T>CClinGen:CA10004004C4479313 617389 Epileptic encephalopathy, early infantile, 53;
NM_203446.3(SYNJ1):c.889A>G (p.Ile297Val)8867SYNJ1Uncertain significancers775110785RCV001242296; NMONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934213405934734059347TC21:g.34059347T>C-
NM_203446.3(SYNJ1):c.887A>G (p.Gln296Arg)8867SYNJ1Uncertain significancers2041858912RCV001341052; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213405934934059349TC34059349-
NM_203446.3(SYNJ1):c.884A>G (p.Lys295Arg)8867SYNJ1Benignrs2254562RCV000713723|RCV001522161|RCV001579568; NMedGen:CN517202|MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934|MedGen:CN169374213405935234059352TC21:g.34059352T>C-
NM_203446.3(SYNJ1):c.883A>C (p.Lys295Gln)8867SYNJ1Likely benignrs554456240RCV000878467; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213405935334059353TG21:g.34059353T>G-
NM_203446.3(SYNJ1):c.873C>T (p.Asn291=)8867SYNJ1Likely benign-1RCV001493113; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213405936334059363GA34059363-
NM_203446.3(SYNJ1):c.862A>C (p.Thr288Pro)8867SYNJ1Uncertain significancers571120951RCV001205807; NMONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934213405937434059374TG21:g.34059374T>G-
NM_203446.3(SYNJ1):c.856T>C (p.Phe286Leu)8867SYNJ1Uncertain significance-1RCV001361350; NMONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934213405938034059380AG34059380-
NM_203446.3(SYNJ1):c.851+10T>C8867SYNJ1Likely benign-1RCV001427938; NMONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934213406060634060606AG34060606-
NM_203446.3(SYNJ1):c.851G>A (p.Arg284Lys)8867SYNJ1Conflicting interpretations of pathogenicityrs565013600RCV000624913|RCV000997825|RCV001489751; NMeSH:D030342,MedGen:C0950123|MedGen:CN517202|MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213406061634060616CT21:g.34060616C>TClinGen:CA10004028C0950123 Inborn genetic diseases;
NM_203446.3(SYNJ1):c.843T>C (p.Ala281=)8867SYNJ1Likely benignrs372016074RCV000534789; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213406062434060624AG21:g.34060624A>GClinGen:CA10004029C4479313 617389 Epileptic encephalopathy, early infantile, 53;
NM_203446.3(SYNJ1):c.842C>G (p.Ala281Gly)8867SYNJ1Uncertain significancers1046699971RCV000527006; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213406062534060625GC21:g.34060625G>CClinGen:CA410094159C4479313 617389 Epileptic encephalopathy, early infantile, 53;
NM_203446.3(SYNJ1):c.842C>T (p.Ala281Val)8867SYNJ1Uncertain significancers1046699971RCV001298658; NMONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934213406062534060625GA34060625-
NM_203446.3(SYNJ1):c.841G>C (p.Ala281Pro)8867SYNJ1Uncertain significancers2041902084RCV001235058; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213406062634060626CG21:g.34060626C>G-
NM_203446.3(SYNJ1):c.831C>T (p.Ala277=)8867SYNJ1Likely benignrs148732160RCV000904198; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213406063634060636GA21:g.34060636G>A-
NM_203446.3(SYNJ1):c.809G>A (p.Arg270His)8867SYNJ1Uncertain significancers532075408RCV000655750; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213406065834060658CT21:g.34060658C>TClinGen:CA10004035
NM_203446.3(SYNJ1):c.809G>T (p.Arg270Leu)8867SYNJ1Uncertain significancers532075408RCV001297019; NMONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934213406065834060658CA34060658-
NM_203446.3(SYNJ1):c.808C>T (p.Arg270Cys)8867SYNJ1Uncertain significancers547450707RCV000550869; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213406065934060659GA21:g.34060659G>AClinGen:CA10004036C4479313 617389 Epileptic encephalopathy, early infantile, 53;
NM_203446.3(SYNJ1):c.803G>A (p.Arg268His)8867SYNJ1Uncertain significancers201796096RCV000699530|RCV001197963; NMONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934|MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934213406066434060664CT21:g.34060664C>T-C4479313 617389 Epileptic encephalopathy, early infantile, 53;
NM_203446.3(SYNJ1):c.790-6T>G8867SYNJ1Uncertain significancers2041904445RCV001214753; NMONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934213406068334060683AC21:g.34060683A>C-
NM_203446.3(SYNJ1):c.789+8_789+11del8867SYNJ1Likely benignrs751922511RCV000900088; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213406652734066530TCAAAT21:g.34066527_34066530del-
NM_203446.3(SYNJ1):c.789+10T>C8867SYNJ1Likely benignrs1601446146RCV000919905|RCV001446175; NMedGen:CN517202|MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213406652834066528AG21:g.34066528A>G-
NM_203446.3(SYNJ1):c.789+1G>A8867SYNJ1Likely pathogenicrs2042124608RCV001236322; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213406653734066537CT21:g.34066537C>T-
NM_203446.3(SYNJ1):c.768C>G (p.Phe256Leu)8867SYNJ1Uncertain significancers1456955061RCV000822274; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213406655934066559GC21:g.34066559G>C-
NM_203446.3(SYNJ1):c.762A>G (p.Pro254=)8867SYNJ1Likely benign-1RCV001431681; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213406656534066565TC34066565-
NM_203446.3(SYNJ1):c.749G>A (p.Arg250Gln)8867SYNJ1Uncertain significancers762909719RCV001208004; NMONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934213406657834066578CT21:g.34066578C>T-
NM_203446.3(SYNJ1):c.747C>T (p.Ile249=)8867SYNJ1Likely benign-1RCV001433808; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213406658034066580GA34066580-
NM_203446.3(SYNJ1):c.741A>G (p.Ile247Met)8867SYNJ1Uncertain significance-1RCV001366829; NMONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934213406658634066586TC34066586-
NM_203446.3(SYNJ1):c.711G>A (p.Val237=)8867SYNJ1Likely benign-1RCV001500249; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213406661634066616CT34066616-
NM_203446.3(SYNJ1):c.706-15dup8867SYNJ1Benignrs202044634RCV000655779; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213406662734066628GGA21:g.34066627_34066628insAClinGen:CA10004067C4479313 617389 Epileptic encephalopathy, early infantile, 53;
NM_203446.3(SYNJ1):c.706-7del8867SYNJ1Benignrs202044634RCV000976426; NMONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934213406662834066628GAG21:g.34066628_34066628del-
NM_203446.3(SYNJ1):c.706-8T>C8867SYNJ1Likely benignrs752261171RCV000943662|RCV001450759; NMedGen:CN517202|MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213406662934066629AG21:g.34066629A>G-
NM_203446.3(SYNJ1):c.705+9A>G8867SYNJ1Likely benign-1RCV001505210; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213406735834067358TC34067358-
NM_203446.3(SYNJ1):c.705+7A>G8867SYNJ1Benignrs187016397RCV000713737|RCV001082091; NMedGen:CN517202|MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213406736034067360TC21:g.34067360T>CClinGen:CA10004091C4479313 617389 Epileptic encephalopathy, early infantile, 53;
NM_203446.3(SYNJ1):c.656G>A (p.Arg219Gln)8867SYNJ1Pathogenicrs398122403RCV000074432; NMONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213406741634067416CT21:g.34067416C>TClinGen:CA145358,OMIM:604297.0001C3809824 615530 Parkinson disease 20, early-onset;
NM_203446.3(SYNJ1):c.630A>T (p.Glu210Asp)8867SYNJ1Uncertain significancers1377390036RCV000690772; NMONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934213406744234067442TA21:g.34067442T>A-C4479313 617389 Epileptic encephalopathy, early infantile, 53;
NM_203446.3(SYNJ1):c.622A>G (p.Ser208Gly)8867SYNJ1Uncertain significancers1601449471RCV000801143; NMONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934213406745034067450TC21:g.34067450T>C-
NM_203446.3(SYNJ1):c.601G>T (p.Ala201Ser)8867SYNJ1Uncertain significancers371958110RCV001322458; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213406747134067471CA34067471-
NM_203446.3(SYNJ1):c.597G>A (p.Ala199=)8867SYNJ1Likely benign-1RCV001499264; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213406747534067475CT34067475-
NM_203446.3(SYNJ1):c.592C>A (p.Gln198Lys)8867SYNJ1Uncertain significancers771210989RCV001209987; NMONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934213406748034067480GT21:g.34067480G>T-
NM_203446.3(SYNJ1):c.583G>A (p.Ala195Thr)8867SYNJ1Uncertain significancers774367309RCV000808944; NMONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934213406748934067489CT21:g.34067489C>T-
NM_203446.3(SYNJ1):c.577T>C (p.Tyr193His)8867SYNJ1Uncertain significancers2042158818RCV001281694; NMONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213406749534067495AG34067495-
NM_203446.3(SYNJ1):c.574A>G (p.Ile192Val)8867SYNJ1Uncertain significancers2042159051RCV001318324; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213406749834067498TC34067498-
NM_203446.3(SYNJ1):c.573A>G (p.Thr191=)8867SYNJ1Benign/Likely benignrs61756694RCV000713736|RCV001081845; NMedGen:CN517202|MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213406749934067499TC21:g.34067499T>CClinGen:CA10004106
NM_203446.3(SYNJ1):c.564A>C (p.Glu188Asp)8867SYNJ1Uncertain significancers1423467857RCV001049838; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213406750834067508TG21:g.34067508T>G-
NM_203446.3(SYNJ1):c.559G>A (p.Val187Ile)8867SYNJ1Uncertain significance-1RCV001360141; NMONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934213406751334067513CT34067513-
NM_203446.3(SYNJ1):c.550T>A (p.Cys184Ser)8867SYNJ1Uncertain significancers903887015RCV001229562; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213406752234067522AT21:g.34067522A>T-
NM_203446.3(SYNJ1):c.549G>T (p.Met183Ile)8867SYNJ1Uncertain significancers760573856RCV001295049; NMONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934213406752334067523CA34067523-
NM_203446.3(SYNJ1):c.549G>A (p.Met183Ile)8867SYNJ1Uncertain significancers760573856RCV001315720; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213406752334067523CT34067523-
NM_203446.3(SYNJ1):c.542G>A (p.Arg181His)8867SYNJ1Uncertain significancers763977309RCV001244430; NMONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934213406753034067530CT21:g.34067530C>T-
NM_203446.3(SYNJ1):c.528T>A (p.Asp176Glu)8867SYNJ1Uncertain significancers1277503442RCV001315426; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213406754434067544AT34067544-
NM_203446.3(SYNJ1):c.517G>A (p.Val173Met)8867SYNJ1Uncertain significancers756663722RCV001302794; NMONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934213406755534067555CT34067555-
NM_203446.3(SYNJ1):c.479+9A>G8867SYNJ1Benignrs76502784RCV000545547|RCV000713735; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411|MedGen:CN517202213407213934072139TC21:g.34072139T>CClinGen:CA10004128
NM_203446.3(SYNJ1):c.470G>C (p.Arg157Thr)8867SYNJ1Uncertain significancers375831365RCV000707208; NMONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934213407215734072157CG21:g.34072157C>G-
NM_203446.3(SYNJ1):c.462T>A (p.Thr154=)8867SYNJ1Likely benign-1RCV001505237; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213407216534072165AT34072165-
NM_203446.3(SYNJ1):c.455A>G (p.Gln152Arg)8867SYNJ1Uncertain significance-1RCV001370362; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213407217234072172TC34072172-
NM_203446.3(SYNJ1):c.443G>A (p.Ser148Asn)8867SYNJ1Uncertain significancers2042337641RCV001223144; NMONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934213407218434072184CT21:g.34072184C>T-
NM_203446.3(SYNJ1):c.440G>A (p.Arg147His)8867SYNJ1Uncertain significancers749741780RCV001313317; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213407218734072187CT34072187-
NM_203446.3(SYNJ1):c.437A>G (p.His146Arg)8867SYNJ1Uncertain significancers2042338087RCV001319551; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213407219034072190TC34072190-
NM_203446.3(SYNJ1):c.435G>A (p.Ala145=)8867SYNJ1Likely benign-1RCV001481465; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213407219234072192CT34072192-
NM_203446.3(SYNJ1):c.434C>T (p.Ala145Val)8867SYNJ1Uncertain significancers111886678RCV001214796; NMONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934213407219334072193GA21:g.34072193G>A-
NM_203446.3(SYNJ1):c.421T>C (p.Leu141=)8867SYNJ1Likely benignrs140461566RCV000537465; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213407220634072206AG21:g.34072206A>GClinGen:CA10004143C4479313 617389 Epileptic encephalopathy, early infantile, 53;
NM_203446.3(SYNJ1):c.407G>A (p.Gly136Asp)8867SYNJ1Uncertain significancers771507886RCV001068914; NMONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934213407222034072220CT21:g.34072220C>T-
NM_203446.3(SYNJ1):c.395G>A (p.Trp132Ter)8867SYNJ1Pathogenicrs1555907463RCV000664071; NMONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213407223234072232CT21:g.34072232C>T-
NM_203446.3(SYNJ1):c.359G>A (p.Arg120Gln)8867SYNJ1Uncertain significancers768435291RCV001327132|RCV001773654; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411|MedGen:CN517202213407226834072268CT34072268-
NM_203446.3(SYNJ1):c.356T>C (p.Val119Ala)8867SYNJ1Uncertain significancers2042341669RCV001065451; NMONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934213407227134072271AG21:g.34072271A>G-
NM_203446.3(SYNJ1):c.344G>T (p.Arg115Leu)8867SYNJ1Uncertain significancers951976946RCV001205777; NMONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934213407228334072283CA21:g.34072283C>A-
NM_203446.3(SYNJ1):c.344G>A (p.Arg115His)8867SYNJ1Uncertain significancers951976946RCV001300626; NMONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934213407228334072283CT34072283-
NM_203446.3(SYNJ1):c.326A>T (p.Asp109Val)8867SYNJ1Uncertain significancers764528223RCV000796372; NMONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934213407230134072301TA21:g.34072301T>A-
NM_203446.3(SYNJ1):c.324C>T (p.Ile108=)8867SYNJ1Likely benignrs551070196RCV000904515|RCV001463521; NMedGen:CN517202|MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213407230334072303GA21:g.34072303G>A-
NM_203446.3(SYNJ1):c.311T>C (p.Ile104Thr)8867SYNJ1Uncertain significancers779426150RCV000655748; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213407231634072316AG21:g.34072316A>GClinGen:CA10004158
NM_203446.3(SYNJ1):c.303T>C (p.Thr101=)8867SYNJ1Likely benign-1RCV001439965; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213407232434072324AG34072324-
NM_203446.3(SYNJ1):c.254T>A (p.Met85Lys)8867SYNJ1Uncertain significancers2042345500RCV001041336; NMONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934213407237334072373AT21:g.34072373A>T-
NM_203446.3(SYNJ1):c.244A>T (p.Thr82Ser)8867SYNJ1Uncertain significancers2042346087RCV001069394; NMONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934213407238334072383TA21:g.34072383T>A-
NM_203446.3(SYNJ1):c.225A>C (p.Leu75Phe)8867SYNJ1Uncertain significancers2042346717RCV001308259; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213407240234072402TG34072402-
NM_203446.3(SYNJ1):c.220A>G (p.Met74Val)8867SYNJ1Uncertain significancers762562029RCV001056698; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213407240734072407TC21:g.34072407T>C-
NM_203446.3(SYNJ1):c.212G>A (p.Gly71Asp)8867SYNJ1Uncertain significancers1438911029RCV001056802; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213407241534072415CT21:g.34072415C>T-
NM_203446.3(SYNJ1):c.211G>C (p.Gly71Arg)8867SYNJ1Uncertain significancers1569113660RCV000685571; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213407427134074271CG21:g.34074271C>G-C4479313 617389 Epileptic encephalopathy, early infantile, 53;
NM_203446.3(SYNJ1):c.200G>A (p.Arg67Gln)8867SYNJ1Uncertain significancers969446324RCV000803592; NMONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934213407428234074282CT21:g.34074282C>T-
NM_203446.3(SYNJ1):c.199C>T (p.Arg67Trp)8867SYNJ1Uncertain significancers372488661RCV000655745; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213407428334074283GA21:g.34074283G>AClinGen:CA10004185C4479313 617389 Epileptic encephalopathy, early infantile, 53;
NM_203446.3(SYNJ1):c.193G>A (p.Val65Ile)8867SYNJ1Uncertain significance-1RCV001363699; NMONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934213407428934074289CT34074289-
NM_203446.3(SYNJ1):c.177A>G (p.Ala59=)8867SYNJ1Uncertain significancers749212329RCV000822850; NMONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934213407430534074305TC21:g.34074305T>C-
NM_203446.3(SYNJ1):c.165A>G (p.Lys55=)8867SYNJ1Likely benignrs141138675RCV000655778; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213407431734074317TC21:g.34074317T>CClinGen:CA10004189
NM_203446.3(SYNJ1):c.162C>T (p.Ser54=)8867SYNJ1Likely benign-1RCV001408445; NMONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934213407432034074320GA34074320-
NM_203446.3(SYNJ1):c.161C>T (p.Ser54Phe)8867SYNJ1Uncertain significancers2042421673RCV001340179; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213407432134074321GA34074321-
NM_203446.3(SYNJ1):c.156A>G (p.Thr52=)8867SYNJ1Uncertain significancers144728528RCV001307009; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213407432634074326TC34074326-
NM_203446.3(SYNJ1):c.150G>A (p.Lys50=)8867SYNJ1Likely benign-1RCV001491432; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213407433234074332CT34074332-
NM_203446.3(SYNJ1):c.133G>A (p.Glu45Lys)8867SYNJ1Uncertain significancers2042422640RCV001054657; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213407434934074349CT21:g.34074349C>T-
NM_203446.3(SYNJ1):c.126A>T (p.Ser42=)8867SYNJ1Likely benignrs1286622528RCV000919920|RCV001471072; NMedGen:CN517202|MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213407435634074356TA21:g.34074356T>A-
NM_203446.3(SYNJ1):c.125-6_125-5del8867SYNJ1Benign-1RCV001512107; NMONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934213407436234074363CAAC34074361-
NM_203446.3(SYNJ1):c.121C>T (p.Leu41Phe)8867SYNJ1Uncertain significance-1RCV001372622; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213409908634099086GA34099086-
NM_203446.3(SYNJ1):c.96G>A (p.Met32Ile)8867SYNJ1Uncertain significancers770096593RCV001338151; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213409911134099111CT34099111-
NM_203446.3(SYNJ1):c.93C>G (p.Leu31=)8867SYNJ1Likely benignrs201322530RCV000655780; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213409911434099114GC21:g.34099114G>CClinGen:CA10004216
NM_203446.3(SYNJ1):c.83A>C (p.Glu28Ala)8867SYNJ1Uncertain significancers199750187RCV001067909; NMONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934213409912434099124TG21:g.34099124T>G-
NM_203446.3(SYNJ1):c.53T>A (p.Phe18Tyr)8867SYNJ1Uncertain significancers2043478146RCV001214172; NMONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934213409915434099154AT21:g.34099154A>T-
NM_203446.3(SYNJ1):c.46C>T (p.Pro16Ser)8867SYNJ1Uncertain significancers1487423508RCV001295254; NMONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934213409916134099161GA34099161-
NM_203446.3(SYNJ1):c.43C>T (p.Pro15Ser)8867SYNJ1Benign/Likely benignrs61755328RCV000513799|RCV001086261; NMedGen:CN517202|MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934213409916434099164GA21:g.34099164G>AClinGen:CA10004225C4479313 617389 Epileptic encephalopathy, early infantile, 53;
NM_203446.3(SYNJ1):c.41A>G (p.Asp14Gly)8867SYNJ1Uncertain significancers565807712RCV000691330; NMONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934213409916634099166TC21:g.34099166T>C-
NM_203446.3(SYNJ1):c.38T>C (p.Leu13Ser)8867SYNJ1Conflicting interpretations of pathogenicity-1RCV001448730|RCV001751768; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411|MedGen:CN517202213409916934099169AG34099169-
NM_203446.3(SYNJ1):c.35A>G (p.Lys12Arg)8867SYNJ1Uncertain significancers2043479501RCV001232604; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213409917234099172TC21:g.34099172T>C-
NM_203446.3(SYNJ1):c.33C>G (p.His11Gln)8867SYNJ1Uncertain significancers750372776RCV001210340; NMONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934213409917434099174GC21:g.34099174G>C-
NM_203446.3(SYNJ1):c.29A>G (p.Tyr10Cys)8867SYNJ1Uncertain significancers967674859RCV001051813; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213409917834099178TC21:g.34099178T>C-
NM_203446.3(SYNJ1):c.25A>G (p.Ile9Val)8867SYNJ1Uncertain significancers757895747RCV000693334; NMONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934213409918234099182TC21:g.34099182T>C-C4479313 617389 Epileptic encephalopathy, early infantile, 53;
NM_203446.3(SYNJ1):c.20T>A (p.Phe7Tyr)8867SYNJ1Uncertain significancers748690832RCV000691317|RCV001093461; NMONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934|MedGen:CN517202213409918734099187AT21:g.34099187A>T-
NM_203446.3(SYNJ1):c.6G>A (p.Ala2=)8867SYNJ1Benign/Likely benignrs61750221RCV000713724|RCV001086325; NMedGen:CN517202|MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213409920134099201CT21:g.34099201C>TClinGen:CA10004232
NM_203446.3(SYNJ1):c.4G>A (p.Ala2Thr)8867SYNJ1Uncertain significancers2043481026RCV001312720; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213409920334099203CT34099203-
NM_203446.3(SYNJ1):c.-22-4G>A8867SYNJ1Likely benign-1RCV001441880; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213409923234099232CT34099232-
NM_203446.3(SYNJ1):c.-22-10G>A8867SYNJ1Likely benign-1RCV001460063; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213409923834099238CT34099238-
NC_000021.9:g.(?_32727926)_(32728060_?)del8867SYNJ1Pathogenic-1RCV001033697; NMONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934213410023734100371nana-1-
NM_203446.3(SYNJ1):c.-23+3G>A8867SYNJ1Uncertain significance-1RCV001369051; NMONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934213410025434100254CT34100254-
NM_203446.3(SYNJ1):c.-23G>A8867SYNJ1Uncertain significancers1195858283RCV001324406; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213410025734100257CT34100257-
NM_203446.3(SYNJ1):c.-23G>C8867SYNJ1Uncertain significancers1195858283RCV001340744; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213410025734100257CG34100257-
NM_203446.3(SYNJ1):c.-25G>A8867SYNJ1Likely benign-1RCV001435562; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213410025934100259CT34100259-
NM_203446.3(SYNJ1):c.-29G>A8867SYNJ1Uncertain significancers2043550944RCV001223324; NMONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934213410026334100263CT21:g.34100263C>T-
NM_203446.3(SYNJ1):c.-30A>G8867SYNJ1Uncertain significancers2043551030RCV001319170; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213410026434100264TC34100264-
NM_203446.3(SYNJ1):c.-31G>C8867SYNJ1Likely benignrs751083536RCV000944985; NMONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934213410026534100265CG21:g.34100265C>G-
NM_203446.3(SYNJ1):c.-34C>T8867SYNJ1Likely benign-1RCV001431832; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213410026834100268GA34100268-
NM_203446.3(SYNJ1):c.-42A>G8867SYNJ1Uncertain significancers988950141RCV000655743; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213410027634100276TC21:g.34100276T>CClinGen:CA319437508
NM_203446.3(SYNJ1):c.-43G>C8867SYNJ1Uncertain significancers2043552321RCV001313711; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213410027734100277CG34100277-
NM_203446.3(SYNJ1):c.-47G>C8867SYNJ1Uncertain significancers1018405878RCV001038796; NMONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934213410028134100281CG21:g.34100281C>G-
NM_203446.3(SYNJ1):c.-49A>G8867SYNJ1Likely benignrs780877494RCV000944167|RCV001493136; NMedGen:CN517202|MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934213410028334100283TC21:g.34100283T>C-
NM_203446.3(SYNJ1):c.-64_-53dup8867SYNJ1Uncertain significancers1427487040RCV001213193; NMONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934213410028634100287CCCCGCAGCCGCCG21:g.34100286_34100287insCCGCAGCCGCCG-
NM_203446.3(SYNJ1):c.-56_-55delinsAT8867SYNJ1Uncertain significancers2043553723RCV001315357; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213410028934100290GCAT34100289-
NM_203446.3(SYNJ1):c.-67_-56del8867SYNJ1Uncertain significancers1035093736RCV000655768; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213410029034100301GCAGCCGCCGCCAG21:g.34100290_34100301delClinGen:CA319437559C4479313 617389 Epileptic encephalopathy, early infantile, 53;
NM_203446.3(SYNJ1):c.-56G>T8867SYNJ1Uncertain significancers1486511197RCV001235589; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213410029034100290CA21:g.34100290C>A-
NM_203446.3(SYNJ1):c.-57T>G8867SYNJ1Uncertain significancers921606190RCV001294298|RCV001333170; NMONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934|MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934213410029134100291AC34100291-
NM_203446.3(SYNJ1):c.-60G>T8867SYNJ1Uncertain significancers535611172RCV001215745; NMONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934213410029434100294CA21:g.34100294C>A-
NM_203446.3(SYNJ1):c.-61C>T8867SYNJ1Likely benign-1RCV001398103; NMONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934213410029534100295GA34100295-
NM_203446.3(SYNJ1):c.-63G>A8867SYNJ1Uncertain significancers779276328RCV001226518; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213410029734100297CT21:g.34100297C>T-
NM_203446.3(SYNJ1):c.-64C>T8867SYNJ1Likely benign-1RCV001470612; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213410029834100298GA34100298-
NM_203446.3(SYNJ1):c.-68G>A8867SYNJ1Uncertain significancers746182035RCV001036356; NMONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934213410030234100302CT21:g.34100302C>T-
NM_203446.3(SYNJ1):c.-75G>A8867SYNJ1Uncertain significancers2043555401RCV001231723; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213410030934100309CT21:g.34100309C>T-
NM_203446.3(SYNJ1):c.-81G>T8867SYNJ1Uncertain significancers907760868RCV001057464; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213410031534100315CA21:g.34100315C>A-
NM_203446.3(SYNJ1):c.-83A>G8867SYNJ1Uncertain significancers775805673RCV001345727; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213410031734100317TC34100317-
NM_203446.3(SYNJ1):c.-86G>A8867SYNJ1Uncertain significancers768854034RCV000800995; NMONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934213410032034100320CT21:g.34100320C>T-
NM_203446.3(SYNJ1):c.-89G>T8867SYNJ1Uncertain significancers1339841336RCV001224480; NMONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934213410032334100323CA21:g.34100323C>A-
NM_003895.3(SYNJ1):c.24G>A (p.Trp8Ter)8867SYNJ1Pathogenicrs1569147057RCV000697507; NMONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934213410032834100328CT21:g.34100328C>T-C4479313 617389 Epileptic encephalopathy, early infantile, 53;
NM_003895.3(SYNJ1):c.12_13dup (p.Trp5fs)8867SYNJ1Pathogenic-1RCV001381958; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213410033834100339CCAT34100338-
NM_003895.3(SYNJ1):c.13T>C (p.Trp5Arg)8867SYNJ1Uncertain significancers1255271636RCV001308342; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213410033934100339AG34100339-
NM_003895.3(SYNJ1):c.9G>A (p.Lys3=)8867SYNJ1Likely benign-1RCV001469293; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213410034334100343CT34100343-
NM_003895.3(SYNJ1):c.7A>C (p.Lys3Gln)8867SYNJ1Uncertain significancers1037328706RCV000807790; NMONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934213410034534100345TG21:g.34100345T>G-
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