MSeqDR Mitochondrial disease browser phenotype pathogenic gene and mutation portal

About
MSeqDR-LSDB
Tools
- mtDNA Tool:
- mvTool
- Phy-Mer
- MToolBox
- mvTool for Haplogroup
- mvTool with HmtDB
- MitoMaster
- MitoTIP tRNA Scoring
- MSeq-OpenCGA
- Variant Tool:
- VariantOneStop
- Quick-Mitome
- Quick-Mitome-Report
- HBCR Exome (Retired)
- POLG Patho. Server
- Data - Awsomics GeEx
- Expert Panel
- Panel Tool:
- Gene Panel Examiner
- Transgenomic_NuclearMitome
- Pedigree Maker
- json2table
Phenome
- Disease Portal
- HPO Ontology Browser
- Core Symptoms (draft)
- NAMDC-HPO Mapping (retired)
- Expert Panel
- Clinical
- Overview
- Leigh Syndrome Resource
Collaboration
Submission

Hello! Guest! Please Login or Register! Clinician Mode

Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

MSeqDR Mitochondrial Disease Portal

*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
Most Studied CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, Myopathy, SANDO

Disease Browser
Parent Node: Parkinson Disease (D010300)
..Starting node ..PARKINSON DISEASE 20, EARLY-ONSET (OMIM:615530)
Child Nodes:
Sister Nodes:
..AMYOTROPHIC LATERAL SCLEROSIS-PARKINSONISM/DEMENTIA COMPLEX 1 (OMIM:105500)
..Paralysis Agitans, Juvenile, Of Hunt (C562469)
..PARKINSON DISEASE 1, AUTOSOMAL DOMINANT (OMIM:168601)
..Parkinson Disease 10 (C564653)
..Parkinson Disease 11 (C564345)
..PARKINSON DISEASE 11, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO (OMIM:607688)
..Parkinson Disease 12 (C564486)
..Parkinson Disease 13 (C565204)
..PARKINSON DISEASE 13, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO (OMIM:610297)
..PARKINSON DISEASE 14, AUTOSOMAL RECESSIVE (OMIM:612953)
..Parkinson Disease 16 (C567726)
..PARKINSON DISEASE 17 (OMIM:614203)
..PARKINSON DISEASE 18, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO (OMIM:614251)
..PARKINSON DISEASE 19A, JUVENILE-ONSET (OMIM:615528)
..PARKINSON DISEASE 20, EARLY-ONSET (OMIM:615530)
..PARKINSON DISEASE 21 (OMIM:616361)
..PARKINSON DISEASE 22, AUTOSOMAL DOMINANT (OMIM:616710)
..PARKINSON DISEASE 23, AUTOSOMAL RECESSIVE EARLY-ONSET (OMIM:616840)
..Parkinson disease 3 (C537176)
..Parkinson Disease 3, Autosomal Dominant Lewy Body (C566552)
..Parkinson Disease 4, Autosomal Dominant Lewy Body (C565324)
..PARKINSON DISEASE 5, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO (OMIM:613643)
..Parkinson Disease 6, Autosomal Recessive Early-Onset (C565276)
..Parkinson Disease 7, Autosomal Recessive Early-Onset (C565238)
..PARKINSON DISEASE 8, AUTOSOMAL DOMINANT (OMIM:607060)
..Parkinson Disease, Familial, Type 1 (C566823)
..PARKINSON DISEASE, LATE-ONSET (OMIM:168600)
..Parkinson Disease, Mitochondrial (C564015) L: 00170;
..Parkinsonism, early onset with mental retardation (C537179)
..Parkinsonism-Dystonia, Infantile (C567730)
..Progressive 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 :
Genes: PKLR; SYNJ1;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0002067	Bradykinesia
3	HP:0001260	Dysarthria NAMDC: Dysarthria
4	HP:0001332	Dystonia NAMDC: Dystonia
5	HP:0000658	Eyelid apraxia
6	HP:0001268	Mental deterioration	HP:0040283
7	HP:0001300	Parkinsonism NAMDC: Parkinsonism
8	HP:0002172	Postural instability
9	HP:0003676	Progressive
10	HP:0002063	Rigidity
11	HP:0002362	Shuffling gait
12	HP:0025401	Staring gaze
13	HP:0000605	Supranuclear gaze palsy
14	HP:0001337	Tremor

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_c	HGVS_p	HGVS_g	OtherIDs	Disease_ClinVar
NC_000021.8:g.(?_32439271)_(37133458_?)dup	8867	SYNJ1	Uncertain significance	-1	RCV001338842;	N	MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	32439271	37133458	na	na	-1	-
NC_000021.8:g.(?_33974153)_(34074377_?)dup	8867	SYNJ1	Uncertain significance	-1	RCV000708396;	N	MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934	21	33974153	34074377	na	na		-
NC_000021.9:g.(?_32601843)_(32634904_?)dup	8867	SYNJ1	Uncertain significance	-1	RCV001033655;	N	MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934	21	33974153	34007214	na	na	-1	-
NC_000021.8:g.(?_34000069)_(34101351_?)dup	8867	SYNJ1	Uncertain significance	-1	RCV001033279;	N	MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934	21	34000069	34101351	na	na	-1	-
NM_203446.3(SYNJ1):c.*807A>G	8867	SYNJ1	Uncertain significance	rs2039296175	RCV001064670;	N	MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934	21	34003308	34003308	T	C	21:g.34003308T>C	-
NM_203446.3(SYNJ1):c.*806G>A	8867	SYNJ1	Uncertain significance	rs772562248	RCV001224896;	N	MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934	21	34003309	34003309	C	T	21:g.34003309C>T	-
NM_203446.3(SYNJ1):c.*806G>C	8867	SYNJ1	Uncertain significance	rs772562248	RCV001238755;	N	MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34003309	34003309	C	G	21:g.34003309C>G	-
NM_203446.3(SYNJ1):c.*770C>T	8867	SYNJ1	Uncertain significance	rs2039298283	RCV001070167;	N	MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934	21	34003345	34003345	G	A	21:g.34003345G>A	-
NM_203446.3(SYNJ1):c.*767T>G	8867	SYNJ1	Uncertain significance	rs764949465	RCV000791696;	N	MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934	21	34003348	34003348	A	C	21:g.34003348A>C	-
NM_203446.3(SYNJ1):c.*763A>G	8867	SYNJ1	Uncertain significance	rs778073626	RCV001240169;	N	MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934	21	34003352	34003352	T	C	21:g.34003352T>C	-
NM_203446.3(SYNJ1):c.*761C>T	8867	SYNJ1	Likely benign	rs111516740	RCV000558151;	N	MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34003354	34003354	G	A	21:g.34003354G>A	ClinGen:CA10003043
NM_203446.3(SYNJ1):c.*755C>T	8867	SYNJ1	Uncertain significance	rs2039299981	RCV001341387;	N	MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34003360	34003360	G	A	34003360	-
NM_203446.3(SYNJ1):c.*753T>C	8867	SYNJ1	Likely benign	-1	RCV001504834;	N	MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34003362	34003362	A	G	34003362	-
NM_203446.3(SYNJ1):c.*741C>T	8867	SYNJ1	Likely benign	-1	RCV001415574;	N	MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934	21	34003374	34003374	G	A	34003374	-
NM_203446.3(SYNJ1):c.*738C>T	8867	SYNJ1	Likely benign	rs747245690	RCV000655785;	N	MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34003377	34003377	G	A	21:g.34003377G>A	ClinGen:CA10003049	C4479313 617389 Epileptic encephalopathy, early infantile, 53;
NM_203446.3(SYNJ1):c.*737C>G	8867	SYNJ1	Uncertain significance	rs746226206	RCV001220175;	N	MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934	21	34003378	34003378	G	C	21:g.34003378G>C	-
NM_203446.3(SYNJ1):c.*733G>A	8867	SYNJ1	Uncertain significance	rs758953009	RCV001217726;	N	MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934	21	34003382	34003382	C	T	21:g.34003382C>T	-
NM_203446.3(SYNJ1):c.*732C>T	8867	SYNJ1	Benign	rs148676465	RCV000964602;	N	MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934	21	34003383	34003383	G	A	21:g.34003383G>A	-
NM_203446.3(SYNJ1):c.*729G>A	8867	SYNJ1	Likely benign	-1	RCV001418553;	N	MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934	21	34003386	34003386	C	T	34003386	-
NM_203446.3(SYNJ1):c.*728C>T	8867	SYNJ1	Likely benign	rs2230767	RCV000713734\|RCV001084764;	N	MedGen:CN517202\|MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34003387	34003387	G	A	21:g.34003387G>A	ClinGen:CA10003055
NM_203446.3(SYNJ1):c.*719CT[1]	8867	SYNJ1	Uncertain significance	rs1236484854	RCV001228026;	N	MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34003393	34003394	CAG	C	21:g.34003393_34003394del	-
NM_203446.3(SYNJ1):c.*712C>T	8867	SYNJ1	Uncertain significance	rs2039303366	RCV001059547;	N	MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34003403	34003403	G	A	21:g.34003403G>A	-
NM_203446.3(SYNJ1):c.*709C>T	8867	SYNJ1	Uncertain significance	rs912535820	RCV001223989;	N	MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934	21	34003406	34003406	G	A	21:g.34003406G>A	-
NM_203446.3(SYNJ1):c.*704C>G	8867	SYNJ1	Uncertain significance	rs367591704	RCV001225929;	N	MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34003411	34003411	G	C	21:g.34003411G>C	-
NM_203446.3(SYNJ1):c.*690G>A	8867	SYNJ1	Benign	-1	RCV001521869;	N	MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934	21	34003425	34003425	C	T	34003425	-
NM_203446.3(SYNJ1):c.*689C>T	8867	SYNJ1	Uncertain significance	rs766938091	RCV001215449;	N	MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934	21	34003426	34003426	G	A	21:g.34003426G>A	-
NM_203446.3(SYNJ1):c.677_679del	8867	SYNJ1	Likely benign	rs528030561	RCV000879439;	N	MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34003436	34003438	CAGA	C	21:g.34003436_34003438del	-
NM_203446.3(SYNJ1):c.*678C>G	8867	SYNJ1	Uncertain significance	rs760299495	RCV000820638;	N	MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34003437	34003437	G	C	21:g.34003437G>C	-
NM_203446.3(SYNJ1):c.*676T>C	8867	SYNJ1	Uncertain significance	rs2039305600	RCV001214034;	N	MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934	21	34003439	34003439	A	G	21:g.34003439A>G	-
NM_203446.3(SYNJ1):c.*668A>C	8867	SYNJ1	Uncertain significance	rs2039305821	RCV001325874;	N	MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34003447	34003447	T	G	34003447	-
NM_203446.3(SYNJ1):c.*666A>G	8867	SYNJ1	Uncertain significance	rs763776246	RCV000813890;	N	MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34003449	34003449	T	C	21:g.34003449T>C	-
NM_203446.3(SYNJ1):c.*665C>G	8867	SYNJ1	Likely benign	-1	RCV001489826;	N	MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34003450	34003450	G	C	34003450	-
NM_203446.3(SYNJ1):c.*638C>T	8867	SYNJ1	Uncertain significance	rs755473642	RCV001056699;	N	MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34003477	34003477	G	A	21:g.34003477G>A	-
NM_203446.3(SYNJ1):c.*633C>T	8867	SYNJ1	Likely benign	-1	RCV001413824;	N	MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934	21	34003482	34003482	G	A	34003482	-
NM_203446.3(SYNJ1):c.*618A>G	8867	SYNJ1	Likely benign	rs139212871	RCV000946037;	N	MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934	21	34003497	34003497	T	C	21:g.34003497T>C	-
NM_203446.3(SYNJ1):c.*613A>G	8867	SYNJ1	Uncertain significance	rs769954720	RCV000694869;	N	MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934	21	34003502	34003502	T	C	21:g.34003502T>C	-	C4479313 617389 Epileptic encephalopathy, early infantile, 53;
NM_203446.3(SYNJ1):c.*613A>C	8867	SYNJ1	Uncertain significance	rs769954720	RCV001229156;	N	MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34003502	34003502	T	G	21:g.34003502T>G	-
NM_203446.3(SYNJ1):c.*611C>T	8867	SYNJ1	Benign/Likely benign	rs76056543	RCV000713733\|RCV001082702;	N	MedGen:CN517202\|MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34003504	34003504	G	A	21:g.34003504G>A	ClinGen:CA10003077
NM_203446.3(SYNJ1):c.*602G>A	8867	SYNJ1	Uncertain significance	rs375352780	RCV001223988;	N	MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934	21	34003513	34003513	C	T	21:g.34003513C>T	-
NM_203446.3(SYNJ1):c.*598C>A	8867	SYNJ1	Uncertain significance	-1	RCV001368581;	N	MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934	21	34003517	34003517	G	T	34003517	-
NM_203446.3(SYNJ1):c.576_584del	8867	SYNJ1	Uncertain significance	rs769088554	RCV001037484;	N	MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934	21	34003531	34003539	AGCTGACTTT	A	21:g.34003531_34003539del	-
NM_203446.3(SYNJ1):c.*574T>A	8867	SYNJ1	Uncertain significance	rs138122167	RCV000552863;	N	MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34003541	34003541	A	T	21:g.34003541A>T	ClinGen:CA319449810
NM_203446.3(SYNJ1):c.*552G>A	8867	SYNJ1	Likely benign	rs146425050	RCV000544822\|RCV001171960;	N	MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411\|MedGen:CN517202	21	34003563	34003563	C	T	21:g.34003563C>T	ClinGen:CA10003094
NM_203446.3(SYNJ1):c.*541G>A	8867	SYNJ1	Uncertain significance	rs770188528	RCV001235644;	N	MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34003574	34003574	C	T	21:g.34003574C>T	-
NM_203446.3(SYNJ1):c.*540C>T	8867	SYNJ1	Likely benign	-1	RCV001442361;	N	MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34003575	34003575	G	A	34003575	-
NM_203446.3(SYNJ1):c.*526G>A	8867	SYNJ1	Uncertain significance	rs1304102538	RCV001302128;	N	MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934	21	34003589	34003589	C	T	34003589	-
NM_203446.3(SYNJ1):c.*522G>A	8867	SYNJ1	Likely benign	rs777945782	RCV000532497;	N	MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34003593	34003593	C	T	21:g.34003593C>T	ClinGen:CA10003097
NM_203446.3(SYNJ1):c.*521C>G	8867	SYNJ1	Uncertain significance	rs749527882	RCV000655769;	N	MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34003594	34003594	G	C	21:g.34003594G>C	ClinGen:CA10003099
NM_203446.3(SYNJ1):c.*491A>C	8867	SYNJ1	Uncertain significance	rs776115769	RCV000801905;	N	MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934	21	34003624	34003624	T	G	21:g.34003624T>G	-
NM_203446.3(SYNJ1):c.*485A>T	8867	SYNJ1	Uncertain significance	rs764848521	RCV001241242;	N	MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934	21	34003630	34003630	T	A	21:g.34003630T>A	-
NM_203446.3(SYNJ1):c.*469T>C	8867	SYNJ1	Uncertain significance	rs753264526	RCV001218963;	N	MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934	21	34003646	34003646	A	G	21:g.34003646A>G	-
NM_203446.3(SYNJ1):c.*459A>G	8867	SYNJ1	Likely benign	-1	RCV001393712;	N	MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934	21	34003656	34003656	T	C	34003656	-
NM_203446.3(SYNJ1):c.*443G>A	8867	SYNJ1	Likely benign	-1	RCV001487588;	N	MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34003672	34003672	C	T	34003672	-
NM_203446.3(SYNJ1):c.*442A>G	8867	SYNJ1	Uncertain significance	rs1443131725	RCV001069861;	N	MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934	21	34003673	34003673	T	C	21:g.34003673T>C	-
NM_203446.3(SYNJ1):c.*412C>G	8867	SYNJ1	Uncertain significance	rs1012542243	RCV001235592;	N	MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34003703	34003703	G	C	21:g.34003703G>C	-
NM_203446.3(SYNJ1):c.*411C>T	8867	SYNJ1	Likely benign	-1	RCV001459697;	N	MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34003704	34003704	G	A	34003704	-
NM_203446.3(SYNJ1):c.*396T>C	8867	SYNJ1	Likely benign	-1	RCV001445567;	N	MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34003719	34003719	A	G	34003719	-
NM_203446.3(SYNJ1):c.*393C>T	8867	SYNJ1	Likely benign	-1	RCV001445398;	N	MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34003722	34003722	G	A	34003722	-
NM_203446.3(SYNJ1):c.*333C>T	8867	SYNJ1	Likely benign	rs548047319	RCV000901758;	N	MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34003782	34003782	G	A	21:g.34003782G>A	-
NM_203446.3(SYNJ1):c.*329G>A	8867	SYNJ1	Benign	rs61750217	RCV000556286\|RCV000713732;	N	MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411\|MedGen:CN517202	21	34003786	34003786	C	T	21:g.34003786C>T	ClinGen:CA10003130
NM_203446.3(SYNJ1):c.*319G>C	8867	SYNJ1	Uncertain significance	rs565075239	RCV001324878;	N	MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34003796	34003796	C	G	34003796	-
NM_203446.3(SYNJ1):c.*316del	8867	SYNJ1	Uncertain significance	rs1569014970	RCV000692154;	N	MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934	21	34003799	34003799	GT	G	21:g.34003799_34003799del	-	C4479313 617389 Epileptic encephalopathy, early infantile, 53;
NM_203446.3(SYNJ1):c.*315G>A	8867	SYNJ1	Benign/Likely benign	rs145347648	RCV000655783\|RCV001569990;	N	MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411\|MedGen:CN517202	21	34003800	34003800	C	T	21:g.34003800C>T	ClinGen:CA10003133	C4479313 617389 Epileptic encephalopathy, early infantile, 53;
NM_203446.3(SYNJ1):c.*312C>T	8867	SYNJ1	Likely benign	rs149199429	RCV000655775;	N	MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34003803	34003803	G	A	21:g.34003803G>A	ClinGen:CA10003134
NM_203446.3(SYNJ1):c.*309T>G	8867	SYNJ1	Uncertain significance	rs750670440	RCV001323641;	N	MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34003806	34003806	A	C	34003806	-
NM_203446.3(SYNJ1):c.*303T>G	8867	SYNJ1	Likely benign	-1	RCV001461997;	N	MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34003812	34003812	A	C	34003812	-
NM_203446.3(SYNJ1):c.*295A>G	8867	SYNJ1	Uncertain significance	rs2039325513	RCV001346312;	N	MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34003820	34003820	T	C	34003820	-
NM_203446.3(SYNJ1):c.*276del	8867	SYNJ1	Uncertain significance	rs1324658792	RCV001306876;	N	MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34003839	34003839	TA	T	34003838	-
NM_203446.3(SYNJ1):c.*270C>T	8867	SYNJ1	Likely benign	-1	RCV001441980;	N	MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34003845	34003845	G	A	34003845	-
NM_203446.3(SYNJ1):c.*265C>A	8867	SYNJ1	Uncertain significance	rs769312346	RCV001349070;	N	MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34003850	34003850	G	T	34003850	-
NM_203446.3(SYNJ1):c.*257G>T	8867	SYNJ1	Uncertain significance	rs112469776	RCV000811994;	N	MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34003858	34003858	C	A	21:g.34003858C>A	-
NM_203446.3(SYNJ1):c.*257G>A	8867	SYNJ1	Uncertain significance	rs112469776	RCV001323724;	N	MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34003858	34003858	C	T	34003858	-
NM_203446.3(SYNJ1):c.*256C>T	8867	SYNJ1	Uncertain significance	rs565341830	RCV001052068;	N	MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34003859	34003859	G	A	21:g.34003859G>A	-
NM_203446.3(SYNJ1):c.*253A>G	8867	SYNJ1	Uncertain significance	rs1398328287	RCV000791575;	N	MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934	21	34003862	34003862	T	C	21:g.34003862T>C	-
NM_203446.3(SYNJ1):c.227_244dup	8867	SYNJ1	Uncertain significance	rs1332100317	RCV001312315;	N	MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34003870	34003871	T	TGGGATTGACTCCGAGCTG	34003870	-
NM_203446.3(SYNJ1):c.*235A>C	8867	SYNJ1	Uncertain significance	rs769099271	RCV001067626;	N	MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934	21	34003880	34003880	T	G	21:g.34003880T>G	-
NM_203446.3(SYNJ1):c.*234G>T	8867	SYNJ1	Likely benign	rs777299829	RCV000538312;	N	MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34003881	34003881	C	A	21:g.34003881C>A	ClinGen:CA10003149	C4479313 617389 Epileptic encephalopathy, early infantile, 53;
NM_203446.3(SYNJ1):c.*233G>A	8867	SYNJ1	Uncertain significance	rs765410501	RCV000818809;	N	MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34003882	34003882	C	T	21:g.34003882C>T	-
NM_203446.3(SYNJ1):c.*223A>G	8867	SYNJ1	Likely benign	rs113978322	RCV000525739;	N	MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34003892	34003892	T	C	21:g.34003892T>C	ClinGen:CA10003154
NM_203446.3(SYNJ1):c.*212C>T	8867	SYNJ1	Uncertain significance	rs754791304	RCV000690136;	N	MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934	21	34003903	34003903	G	A	21:g.34003903G>A	-
NM_203446.3(SYNJ1):c.*195T>G	8867	SYNJ1	Uncertain significance	rs1323976540	RCV001348689;	N	MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34003920	34003920	A	C	34003920	-
NM_203446.3(SYNJ1):c.*188T>C	8867	SYNJ1	Uncertain significance	rs866258846	RCV000655749;	N	MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34003927	34003927	A	G	21:g.34003927A>G	ClinGen:CA319450227
NM_203446.3(SYNJ1):c.186_187insAATAC	8867	SYNJ1	Benign	rs869265580	RCV000655773;	N	MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34003928	34003929	A	AGTATT	21:g.34003928_34003929insGTATT	ClinGen:CA10003163
NM_203446.3(SYNJ1):c.186_187insAATACT	8867	SYNJ1	Benign	rs57257560	RCV000713731\|RCV001522159\|RCV001579732;	N	MedGen:CN517202\|MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934\|MedGen:CN169374	21	34003928	34003929	A	AAGTATT	21:g.34003928_34003929insAGTATT	-
NM_203446.3(SYNJ1):c.186_187insATTACT	8867	SYNJ1	Uncertain significance	rs57257560	RCV001049561;	N	MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34003928	34003929	A	AAGTAAT	21:g.34003928_34003929insAGTAAT	-
NM_203446.3(SYNJ1):c.*187T>C	8867	SYNJ1	Likely benign	-1	RCV001447509;	N	MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34003928	34003928	A	G	34003928	-
NM_203446.3(SYNJ1):c.*173C>T	8867	SYNJ1	Uncertain significance	rs1341548536	RCV000554414;	N	MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34003942	34003942	G	A	21:g.34003942G>A	ClinGen:CA410082740	C4479313 617389 Epileptic encephalopathy, early infantile, 53;
NM_203446.3(SYNJ1):c.*158A>G	8867	SYNJ1	Uncertain significance	rs1340359289	RCV001221067;	N	MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934	21	34003957	34003957	T	C	21:g.34003957T>C	-
NM_203446.3(SYNJ1):c.*132C>A	8867	SYNJ1	Likely benign	-1	RCV001449292;	N	MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34003983	34003983	G	T	34003983	-
NM_203446.3(SYNJ1):c.*127G>C	8867	SYNJ1	Uncertain significance	rs1342453394	RCV000820012;	N	MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34003988	34003988	C	G	21:g.34003988C>G	-
NM_203446.3(SYNJ1):c.*124C>T	8867	SYNJ1	Uncertain significance	rs770180376	RCV001209325;	N	MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934	21	34003991	34003991	G	A	21:g.34003991G>A	-
NM_203446.3(SYNJ1):c.*120G>A	8867	SYNJ1	Likely benign	rs377721268	RCV000878186\|RCV001459059;	N	MedGen:CN517202\|MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34003995	34003995	C	T	21:g.34003995C>T	-
NM_203446.3(SYNJ1):c.*119C>T	8867	SYNJ1	Uncertain significance	-1	RCV001362047;	N	MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934	21	34003996	34003996	G	A	34003996	-
NM_203446.3(SYNJ1):c.*110C>T	8867	SYNJ1	Uncertain significance	rs959757570	RCV001322931;	N	MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34004005	34004005	G	A	34004005	-
NM_203446.3(SYNJ1):c.*108A>G	8867	SYNJ1	Likely benign	rs371381727	RCV000983377;	N	MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34004007	34004007	T	C	21:g.34004007T>C	-
NM_203446.3(SYNJ1):c.*100G>T	8867	SYNJ1	Uncertain significance	rs2039335923	RCV001227067;	N	MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34004015	34004015	C	A	21:g.34004015C>A	-
NM_203446.3(SYNJ1):c.*89C>T	8867	SYNJ1	Uncertain significance	-1	RCV001369313;	N	MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934	21	34004026	34004026	G	A	34004026	-
NM_203446.3(SYNJ1):c.*88G>C	8867	SYNJ1	Uncertain significance	-1	RCV001359311;	N	MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934	21	34004027	34004027	C	G	34004027	-
NM_203446.3(SYNJ1):c.*75A>G	8867	SYNJ1	Likely benign	-1	RCV001483430;	N	MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34004040	34004040	T	C	34004040	-
NM_203446.3(SYNJ1):c.*60A>G	8867	SYNJ1	Likely benign	-1	RCV001479143;	N	MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34004055	34004055	T	C	34004055	-
NM_203446.3(SYNJ1):c.*21C>A	8867	SYNJ1	Likely benign	-1	RCV001423818;	N	MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934	21	34004094	34004094	G	T	34004094	-
NM_203446.3(SYNJ1):c.*9A>G	8867	SYNJ1	Likely benign	-1	RCV001463098;	N	MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34004106	34004106	T	C	34004106	-
NM_203446.3(SYNJ1):c.*4G>A	8867	SYNJ1	Likely benign	rs115648918	RCV000541804\|RCV001584365;	N	MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411\|MedGen:CN517202	21	34004111	34004111	C	T	21:g.34004111C>T	ClinGen:CA10003187
NM_203446.3(SYNJ1):c.3915+10A>G	8867	SYNJ1	Likely benign	-1	RCV001400871;	N	MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934	21	34011208	34011208	T	C	34011208	-
NM_203446.3(SYNJ1):c.3915+7C>G	8867	SYNJ1	Likely benign	-1	RCV001460872;	N	MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34011211	34011211	G	C	34011211	-
NM_203446.3(SYNJ1):c.3915+5G>T	8867	SYNJ1	Benign	rs61750220	RCV000713730\|RCV001079280;	N	MedGen:CN517202\|MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34011213	34011213	C	A	21:g.34011213C>A	ClinGen:CA10003221
NM_203446.3(SYNJ1):c.3915+5G>A	8867	SYNJ1	Uncertain significance	rs61750220	RCV001059422;	N	MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34011213	34011213	C	T	21:g.34011213C>T	-
NM_203446.3(SYNJ1):c.3912G>A (p.Pro1304=)	8867	SYNJ1	Likely benign	rs372695378	RCV000655784;	N	MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34011221	34011221	C	T	21:g.34011221C>T	ClinGen:CA10003223
NM_203446.3(SYNJ1):c.3912G>T (p.Pro1304=)	8867	SYNJ1	Likely benign	-1	RCV001396978;	N	MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934	21	34011221	34011221	C	A	34011221	-
NM_203446.3(SYNJ1):c.3908A>G (p.Gln1303Arg)	8867	SYNJ1	Uncertain significance	rs546986773	RCV000655759;	N	MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34011225	34011225	T	C	21:g.34011225T>C	ClinGen:CA10003226	C4479313 617389 Epileptic encephalopathy, early infantile, 53;
NM_203446.3(SYNJ1):c.3882T>G (p.His1294Gln)	8867	SYNJ1	Uncertain significance	rs1569025711	RCV000699190;	N	MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934	21	34011251	34011251	A	C	21:g.34011251A>C	-	C4479313 617389 Epileptic encephalopathy, early infantile, 53;
NM_203446.3(SYNJ1):c.3879C>G (p.Ser1293=)	8867	SYNJ1	Likely benign	-1	RCV001498551;	N	MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34011254	34011254	G	C	34011254	-
NM_203446.3(SYNJ1):c.3873G>T (p.Arg1291Ser)	8867	SYNJ1	Uncertain significance	rs141669628	RCV001323010;	N	MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34011260	34011260	C	A	34011260	-
NM_203446.3(SYNJ1):c.3866G>C (p.Arg1289Pro)	8867	SYNJ1	Uncertain significance	rs780038881	RCV001315365;	N	MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34011267	34011267	C	G	34011267	-
NM_203446.3(SYNJ1):c.3865C>T (p.Arg1289Ter)	8867	SYNJ1	Pathogenic	-1	RCV001390943;	N	MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934	21	34011268	34011268	G	A	34011268	-
NM_203446.3(SYNJ1):c.3837T>A (p.Asn1279Lys)	8867	SYNJ1	Uncertain significance	rs1555888329	RCV000655764;	N	MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34011296	34011296	A	T	21:g.34011296A>T	ClinGen:CA410086736	C4479313 617389 Epileptic encephalopathy, early infantile, 53;
NM_203446.3(SYNJ1):c.3832C>A (p.Pro1278Thr)	8867	SYNJ1	Uncertain significance	-1	RCV001365779;	N	MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934	21	34011301	34011301	G	T	34011301	-
NM_203446.3(SYNJ1):c.3829dup (p.Gln1277fs)	8867	SYNJ1	Uncertain significance	rs1555888341	RCV000655760;	N	MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34011303	34011304	T	TG	21:g.34011303_34011304insG	ClinGen:CA658799407
NM_203446.3(SYNJ1):c.3823G>A (p.Gly1275Ser)	8867	SYNJ1	Uncertain significance	rs1601231173	RCV000815572;	N	MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34011310	34011310	C	T	21:g.34011310C>T	-
NM_203446.3(SYNJ1):c.3811A>G (p.Met1271Val)	8867	SYNJ1	Uncertain significance	rs751069566	RCV000655758;	N	MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34011322	34011322	T	C	21:g.34011322T>C	ClinGen:CA10003243	C4479313 617389 Epileptic encephalopathy, early infantile, 53;
NM_203446.3(SYNJ1):c.3807A>C (p.Ala1269=)	8867	SYNJ1	Likely benign	-1	RCV001472147;	N	MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34011326	34011326	T	G	34011326	-
NM_203446.3(SYNJ1):c.3806C>G (p.Ala1269Gly)	8867	SYNJ1	Uncertain significance	rs2039705571	RCV001348509;	N	MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34011327	34011327	G	C	34011327	-
NM_203446.3(SYNJ1):c.3803C>T (p.Ala1268Val)	8867	SYNJ1	Uncertain significance	rs1601231363	RCV000813037;	N	MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34011330	34011330	G	A	21:g.34011330G>A	-
NM_203446.3(SYNJ1):c.3797C>G (p.Pro1266Arg)	8867	SYNJ1	Uncertain significance	rs767170641	RCV000699952;	N	MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934	21	34011336	34011336	G	C	21:g.34011336G>C	-	C4479313 617389 Epileptic encephalopathy, early infantile, 53;
NM_203446.3(SYNJ1):c.3796C>T (p.Pro1266Ser)	8867	SYNJ1	Uncertain significance	rs2039706224	RCV001315226;	N	MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34011337	34011337	G	A	34011337	-
NM_203446.3(SYNJ1):c.3786G>A (p.Glu1262=)	8867	SYNJ1	Likely benign	-1	RCV001460454;	N	MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34011347	34011347	C	T	34011347	-
NM_203446.3(SYNJ1):c.3783A>G (p.Gln1261=)	8867	SYNJ1	Likely benign	-1	RCV001459674;	N	MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34011350	34011350	T	C	34011350	-
NM_203446.3(SYNJ1):c.3780G>T (p.Leu1260Phe)	8867	SYNJ1	Uncertain significance	rs758900160	RCV001203719;	N	MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934	21	34011353	34011353	C	A	21:g.34011353C>A	-
NM_203446.3(SYNJ1):c.3767C>T (p.Pro1256Leu)	8867	SYNJ1	Uncertain significance	rs147025577	RCV000692074;	N	MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934	21	34011366	34011366	G	A	21:g.34011366G>A	-
NM_203446.3(SYNJ1):c.3764C>T (p.Pro1255Leu)	8867	SYNJ1	Uncertain significance	rs141785091	RCV001210832;	N	MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934	21	34011369	34011369	G	A	21:g.34011369G>A	-
NM_203446.3(SYNJ1):c.3762C>T (p.Pro1254=)	8867	SYNJ1	Likely benign	rs201117151	RCV000524929;	N	MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34011371	34011371	G	A	21:g.34011371G>A	ClinGen:CA10003258
NM_203446.3(SYNJ1):c.3753T>G (p.Ser1251=)	8867	SYNJ1	Likely benign	-1	RCV001394880;	N	MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934	21	34011380	34011380	A	C	34011380	-
NM_203446.3(SYNJ1):c.3749A>T (p.Gln1250Leu)	8867	SYNJ1	Uncertain significance	rs1433204750	RCV001302392;	N	MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934	21	34011384	34011384	T	A	34011384	-
NM_203446.3(SYNJ1):c.3747G>T (p.Pro1249=)	8867	SYNJ1	Likely benign	rs138579227	RCV000655786;	N	MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34011386	34011386	C	A	21:g.34011386C>A	ClinGen:CA10003263	C4479313 617389 Epileptic encephalopathy, early infantile, 53;
NM_203446.3(SYNJ1):c.3747G>A (p.Pro1249=)	8867	SYNJ1	Likely benign	rs138579227	RCV000917819;	N	MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34011386	34011386	C	T	21:g.34011386C>T	-
NM_203446.3(SYNJ1):c.3746C>T (p.Pro1249Leu)	8867	SYNJ1	Uncertain significance	rs149288077	RCV000687228;	N	MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34011387	34011387	G	A	21:g.34011387G>A	-	C4479313 617389 Epileptic encephalopathy, early infantile, 53;
NM_203446.3(SYNJ1):c.3732G>A (p.Gln1244=)	8867	SYNJ1	Likely benign	-1	RCV001454624;	N	MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34011401	34011401	C	T	34011401	-
NM_203446.3(SYNJ1):c.3722T>C (p.Leu1241Pro)	8867	SYNJ1	Uncertain significance	rs548516848	RCV000548786;	N	MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34011411	34011411	A	G	21:g.34011411A>G	ClinGen:CA10003267	C4479313 617389 Epileptic encephalopathy, early infantile, 53;
NM_203446.3(SYNJ1):c.3721C>T (p.Leu1241=)	8867	SYNJ1	Benign	rs2230766	RCV000713729\|RCV001518258\|RCV001579328;	N	MedGen:CN517202\|MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934\|MedGen:CN169374	21	34011412	34011412	G	A	21:g.34011412G>A	-
NM_203446.3(SYNJ1):c.3714T>G (p.Pro1238=)	8867	SYNJ1	Likely benign	-1	RCV001486915;	N	MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34011419	34011419	A	C	34011419	-
NM_203446.3(SYNJ1):c.3697+10C>G	8867	SYNJ1	Benign	-1	RCV001517085;	N	MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934	21	34011971	34011971	G	C	34011971	-
NM_203446.3(SYNJ1):c.3697+8C>T	8867	SYNJ1	Likely benign	-1	RCV001465110;	N	MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34011973	34011973	G	A	34011973	-
NM_203446.3(SYNJ1):c.3691T>C (p.Ser1231Pro)	8867	SYNJ1	Uncertain significance	rs767695759	RCV000540996;	N	MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34011987	34011987	A	G	21:g.34011987A>G	ClinGen:CA10003293
NM_203446.3(SYNJ1):c.3690G>A (p.Thr1230=)	8867	SYNJ1	Likely benign	rs1446522492	RCV000918677;	N	MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34011988	34011988	C	T	21:g.34011988C>T	-
NM_203446.3(SYNJ1):c.3689C>T (p.Thr1230Met)	8867	SYNJ1	Uncertain significance	rs752805765	RCV000528408;	N	MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34011989	34011989	G	A	21:g.34011989G>A	ClinGen:CA10003294
NM_203446.3(SYNJ1):c.3688A>C (p.Thr1230Pro)	8867	SYNJ1	Uncertain significance	rs2039743427	RCV001343832;	N	MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34011990	34011990	T	G	34011990	-
NM_203446.3(SYNJ1):c.3680C>G (p.Thr1227Arg)	8867	SYNJ1	Uncertain significance	rs1275854378	RCV001326130;	N	MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34011998	34011998	G	C	34011998	-
NM_203446.3(SYNJ1):c.3673A>T (p.Ser1225Cys)	8867	SYNJ1	Uncertain significance	rs2039744699	RCV001220901;	N	MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934	21	34012005	34012005	T	A	21:g.34012005T>A	-
NM_203446.3(SYNJ1):c.3652A>G (p.Arg1218Gly)	8867	SYNJ1	Uncertain significance	rs139146760	RCV000821336;	N	MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34012026	34012026	T	C	21:g.34012026T>C	-
NM_203446.3(SYNJ1):c.3638G>A (p.Arg1213Gln)	8867	SYNJ1	Uncertain significance	rs144048853	RCV000549180\|RCV000713728;	N	MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411\|MedGen:CN517202	21	34012040	34012040	C	T	21:g.34012040C>T	ClinGen:CA10003301
NM_203446.3(SYNJ1):c.3637C>T (p.Arg1213Trp)	8867	SYNJ1	Uncertain significance	rs779662077	RCV001319975;	N	MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34012041	34012041	G	A	34012041	-
NM_203446.3(SYNJ1):c.3636G>A (p.Ala1212=)	8867	SYNJ1	Likely benign	rs576444776	RCV000536527;	N	MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34012042	34012042	C	T	21:g.34012042C>T	ClinGen:CA10003304
NM_203446.3(SYNJ1):c.3635C>T (p.Ala1212Val)	8867	SYNJ1	Likely benign	-1	RCV001398947;	N	MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934	21	34012043	34012043	G	A	34012043	-
NM_203446.3(SYNJ1):c.3634G>A (p.Ala1212Thr)	8867	SYNJ1	Uncertain significance	rs769125182	RCV000800705;	N	MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934	21	34012044	34012044	C	T	21:g.34012044C>T	-
NM_203446.3(SYNJ1):c.3633C>T (p.His1211=)	8867	SYNJ1	Likely benign	rs771394723	RCV000919272;	N	MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34012045	34012045	G	A	21:g.34012045G>A	-
NM_203446.3(SYNJ1):c.3610G>A (p.Val1204Ile)	8867	SYNJ1	Uncertain significance	rs1569027714	RCV000693739;	N	MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934	21	34012068	34012068	C	T	21:g.34012068C>T	-	C4479313 617389 Epileptic encephalopathy, early infantile, 53;
NM_203446.3(SYNJ1):c.3604G>T (p.Ala1202Ser)	8867	SYNJ1	Uncertain significance	-1	RCV001364513;	N	MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934	21	34012074	34012074	C	A	34012074	-
NM_203446.3(SYNJ1):c.3602G>A (p.Arg1201His)	8867	SYNJ1	Uncertain significance	rs376836481	RCV001246259\|RCV001773559;	N	MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934\|MedGen:CN517202	21	34012076	34012076	C	T	21:g.34012076C>T	-
NM_203446.3(SYNJ1):c.3601C>T (p.Arg1201Cys)	8867	SYNJ1	Conflicting interpretations of pathogenicity	rs114994257	RCV000784964\|RCV000784965\|RCV000784966\|RCV001523237;	N	MONDO: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:003	21	34012077	34012077	G	A	21:g.34012077G>A	-
NM_203446.3(SYNJ1):c.3601C>G (p.Arg1201Gly)	8867	SYNJ1	Uncertain significance	rs114994257	RCV001038795;	N	MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934	21	34012077	34012077	G	C	21:g.34012077G>C	-
NM_203446.3(SYNJ1):c.3598C>T (p.Pro1200Ser)	8867	SYNJ1	Uncertain significance	-1	RCV001367871;	N	MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934	21	34012080	34012080	G	A	34012080	-
NM_203446.3(SYNJ1):c.3591G>A (p.Thr1197=)	8867	SYNJ1	Likely benign	rs764207431	RCV000952666;	N	MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934	21	34012087	34012087	C	T	21:g.34012087C>T	-
NM_203446.3(SYNJ1):c.3590C>T (p.Thr1197Met)	8867	SYNJ1	Likely benign	rs145937537	RCV000658922\|RCV001079642;	N	MedGen:CN517202\|MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34012088	34012088	G	A	21:g.34012088G>A	ClinGen:CA10003314
NM_203446.3(SYNJ1):c.3589-8A>T	8867	SYNJ1	Likely benign	-1	RCV001493761;	N	MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34012097	34012097	T	A	34012097	-
NM_203446.3(SYNJ1):c.3588+7A>G	8867	SYNJ1	Likely benign	-1	RCV001487426;	N	MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34014199	34014199	T	C	34014199	-
NM_203446.3(SYNJ1):c.3588G>A (p.Pro1196=)	8867	SYNJ1	Uncertain significance	rs1160685381	RCV000548087;	N	MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34014206	34014206	C	T	21:g.34014206C>T	ClinGen:CA512143858
NM_203446.3(SYNJ1):c.3587C>T (p.Pro1196Leu)	8867	SYNJ1	Uncertain significance	rs61752550	RCV000697536;	N	MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934	21	34014207	34014207	G	A	21:g.34014207G>A	-	C4479313 617389 Epileptic encephalopathy, early infantile, 53;
NM_203446.3(SYNJ1):c.3587C>A (p.Pro1196Gln)	8867	SYNJ1	Uncertain significance	rs61752550	RCV000698606;	N	MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934	21	34014207	34014207	G	T	21:g.34014207G>T	-
NM_203446.3(SYNJ1):c.3585A>G (p.Arg1195=)	8867	SYNJ1	Likely benign	rs1404447301	RCV000920785\|RCV001503733;	N	MedGen:CN517202\|MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34014209	34014209	T	C	21:g.34014209T>C	-
NM_203446.3(SYNJ1):c.3584G>C (p.Arg1195Thr)	8867	SYNJ1	Uncertain significance	rs1336877948	RCV001054682;	N	MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34014210	34014210	C	G	21:g.34014210C>G	-
NM_203446.3(SYNJ1):c.3581C>G (p.Ala1194Gly)	8867	SYNJ1	Uncertain significance	rs779766895	RCV000796047;	N	MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934	21	34014213	34014213	G	C	21:g.34014213G>C	-
NM_203446.3(SYNJ1):c.3580G>C (p.Ala1194Pro)	8867	SYNJ1	Uncertain significance	rs77164494	RCV000655766;	N	MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34014214	34014214	C	G	21:g.34014214C>G	ClinGen:CA10003340
NM_203446.3(SYNJ1):c.3560G>A (p.Gly1187Glu)	8867	SYNJ1	Uncertain significance	rs1601244421	RCV001298521;	N	MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934	21	34014234	34014234	C	T	34014234	-
NM_203446.3(SYNJ1):c.3554G>A (p.Gly1185Asp)	8867	SYNJ1	Uncertain significance	rs1569030684	RCV000688391;	N	MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34014240	34014240	C	T	21:g.34014240C>T	-
NM_203446.3(SYNJ1):c.3547C>G (p.Leu1183Val)	8867	SYNJ1	Uncertain significance	rs2039857400	RCV001053334;	N	MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34014247	34014247	G	C	21:g.34014247G>C	-
NM_203446.3(SYNJ1):c.3524G>C (p.Ser1175Thr)	8867	SYNJ1	Uncertain significance	rs994115947	RCV000655744;	N	MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34014270	34014270	C	G	21:g.34014270C>G	ClinGen:CA319422118
NM_203446.3(SYNJ1):c.3520C>T (p.Arg1174Cys)	8867	SYNJ1	Uncertain significance	rs1367145848	RCV001046232;	N	MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934	21	34014274	34014274	G	A	21:g.34014274G>A	-
NM_203446.3(SYNJ1):c.3518-7G>T	8867	SYNJ1	Benign	rs2833929	RCV000713727\|RCV001522160\|RCV001579669;	N	MedGen:CN517202\|MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934\|MedGen:CN169374	21	34014283	34014283	C	A	21:g.34014283C>A	-
NM_203446.3(SYNJ1):c.3517+10C>T	8867	SYNJ1	Likely benign	-1	RCV001400246;	N	MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934	21	34014395	34014395	G	A	34014395	-
NM_203446.3(SYNJ1):c.3517+7A>G	8867	SYNJ1	Likely benign	-1	RCV001437549;	N	MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34014398	34014398	T	C	34014398	-
NM_203446.3(SYNJ1):c.3489C>T (p.Ser1163=)	8867	SYNJ1	Likely benign	-1	RCV001473164;	N	MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34014433	34014433	G	A	34014433	-
NM_203446.3(SYNJ1):c.3481C>G (p.Pro1161Ala)	8867	SYNJ1	Uncertain significance	rs1473250864	RCV001221984;	N	MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934	21	34014441	34014441	G	C	21:g.34014441G>C	-
NM_203446.3(SYNJ1):c.3476A>T (p.Glu1159Val)	8867	SYNJ1	Uncertain significance	rs2039931880	RCV001236801;	N	MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34015722	34015722	T	A	21:g.34015722T>A	-
NM_203446.3(SYNJ1):c.3475G>A (p.Glu1159Lys)	8867	SYNJ1	Uncertain significance	rs561276644	RCV001349137;	N	MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34015723	34015723	C	T	34015723	-
NM_203446.3(SYNJ1):c.3457del (p.Gly1152_Val1153insTer)	8867	SYNJ1	Pathogenic	rs2039933328	RCV001222105;	N	MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934	21	34015741	34015741	AC	A	21:g.34015741_34015741del	-
NM_203446.3(SYNJ1):c.3438dup (p.Ala1147fs)	8867	SYNJ1	Pathogenic	-1	RCV001382931;	N	MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34015759	34015760	C	CT	34015759	-
NM_203446.3(SYNJ1):c.3431G>A (p.Gly1144Asp)	8867	SYNJ1	Uncertain significance	rs142964720	RCV000535707\|RCV001770500;	N	MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411\|MedGen:CN517202	21	34015767	34015767	C	T	21:g.34015767C>T	ClinGen:CA10003401
NM_203446.3(SYNJ1):c.3431-6A>G	8867	SYNJ1	Likely benign	-1	RCV001458911;	N	MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34015773	34015773	T	C	34015773	-
NM_203446.3(SYNJ1):c.3431-8C>A	8867	SYNJ1	Uncertain significance	rs369584002	RCV000798274;	N	MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934	21	34015775	34015775	G	T	21:g.34015775G>T	-
NM_203446.3(SYNJ1):c.3431-10C>T	8867	SYNJ1	Likely benign	-1	RCV001464118;	N	MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34015777	34015777	G	A	34015777	-
NM_203446.3(SYNJ1):c.3410C>T (p.Pro1137Leu)	8867	SYNJ1	Uncertain significance	rs569046864	RCV000655767;	N	MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34017298	34017298	G	A	21:g.34017298G>A	ClinGen:CA10003418	C4479313 617389 Epileptic encephalopathy, early infantile, 53;
NM_203446.3(SYNJ1):c.3409C>T (p.Pro1137Ser)	8867	SYNJ1	Uncertain significance	rs1461988082	RCV001315715;	N	MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34017299	34017299	G	A	34017299	-
NM_203446.3(SYNJ1):c.3403C>T (p.Pro1135Ser)	8867	SYNJ1	Uncertain significance	rs151126056	RCV001046387\|RCV001552430;	N	MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934\|MedGen:CN517202	21	34017305	34017305	G	A	21:g.34017305G>A	-
NM_203446.3(SYNJ1):c.3392-5A>G	8867	SYNJ1	Uncertain significance	rs776721216	RCV000797876;	N	MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934	21	34017321	34017321	T	C	21:g.34017321T>C	-
NM_203446.3(SYNJ1):c.3392-5A>T	8867	SYNJ1	Likely benign	rs776721216	RCV000977574;	N	MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934	21	34017321	34017321	T	A	21:g.34017321T>A	-
NM_203446.3(SYNJ1):c.3392-8A>T	8867	SYNJ1	Likely benign	rs533064963	RCV000929801;	N	MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34017324	34017324	T	A	21:g.34017324T>A	-
NM_203446.3(SYNJ1):c.3392-10G>C	8867	SYNJ1	Likely benign	-1	RCV001418521;	N	MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934	21	34017326	34017326	C	G	34017326	-
NM_203446.3(SYNJ1):c.3391+6A>C	8867	SYNJ1	Uncertain significance	rs745914222	RCV001296530;	N	MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934	21	34017950	34017950	T	G	34017950	-
NM_203446.3(SYNJ1):c.3378T>A (p.Pro1126=)	8867	SYNJ1	Likely benign	-1	RCV001482779;	N	MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34017969	34017969	A	T	34017969	-
NM_203446.3(SYNJ1):c.3376C>A (p.Pro1126Thr)	8867	SYNJ1	Uncertain significance	rs1485482944	RCV000815075\|RCV001329149;	N	MONDO: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:1934	21	34017971	34017971	G	T	21:g.34017971G>T	-
NM_203446.3(SYNJ1):c.3369A>G (p.Pro1123=)	8867	SYNJ1	Benign/Likely benign	rs368850131	RCV000713726\|RCV001083407\|RCV001644669;	N	MedGen:CN517202\|MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411\|MedGen:CN169374	21	34017978	34017978	T	C	21:g.34017978T>C	ClinGen:CA10003439
NM_203446.3(SYNJ1):c.3368C>A (p.Pro1123Gln)	8867	SYNJ1	Uncertain significance	rs748154988	RCV001061834;	N	MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934	21	34017979	34017979	G	T	21:g.34017979G>T	-
NM_203446.3(SYNJ1):c.3364C>T (p.Pro1122Ser)	8867	SYNJ1	Uncertain significance	rs1274970038	RCV001205063;	N	MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934	21	34017983	34017983	G	A	21:g.34017983G>A	-
NM_203446.3(SYNJ1):c.3359C>T (p.Pro1120Leu)	8867	SYNJ1	Uncertain significance	rs773242399	RCV001257216;	N	MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934	21	34017988	34017988	G	A	21:g.34017988G>A	-
NM_203446.3(SYNJ1):c.3357C>T (p.Arg1119=)	8867	SYNJ1	Likely benign	rs1601259728	RCV000921992;	N	MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34017990	34017990	G	A	21:g.34017990G>A	-
NM_203446.3(SYNJ1):c.3355C>A (p.Arg1119Ser)	8867	SYNJ1	Uncertain significance	rs1157846436	RCV001326798;	N	MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34017992	34017992	G	T	34017992	-
NM_203446.3(SYNJ1):c.3352A>G (p.Thr1118Ala)	8867	SYNJ1	Uncertain significance	rs1189796802	RCV001063021;	N	MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934	21	34017995	34017995	T	C	21:g.34017995T>C	-
NM_203446.3(SYNJ1):c.3347C>T (p.Pro1116Leu)	8867	SYNJ1	Uncertain significance	rs765746949	RCV001049739;	N	MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34018000	34018000	G	A	21:g.34018000G>A	-
NM_203446.3(SYNJ1):c.3340G>A (p.Val1114Ile)	8867	SYNJ1	Uncertain significance	rs527362526	RCV001245323;	N	MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934	21	34018007	34018007	C	T	21:g.34018007C>T	-
NM_203446.3(SYNJ1):c.3327G>A (p.Pro1109=)	8867	SYNJ1	Likely benign	-1	RCV001493272;	N	MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34018020	34018020	C	T	34018020	-
NM_203446.3(SYNJ1):c.3320G>A (p.Arg1107Gln)	8867	SYNJ1	Uncertain significance	rs917502531	RCV000690589;	N	MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934	21	34018027	34018027	C	T	21:g.34018027C>T	-	C4479313 617389 Epileptic encephalopathy, early infantile, 53;
NM_203446.3(SYNJ1):c.3304C>T (p.Pro1102Ser)	8867	SYNJ1	Uncertain significance	rs1368672974	RCV000655755;	N	MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34018043	34018043	G	A	21:g.34018043G>A	ClinGen:CA410068343	C4479313 617389 Epileptic encephalopathy, early infantile, 53;
NM_203446.3(SYNJ1):c.3296C>T (p.Pro1099Leu)	8867	SYNJ1	Uncertain significance	rs1447192933	RCV001318469;	N	MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34018051	34018051	G	A	34018051	-
NM_203446.3(SYNJ1):c.3290A>G (p.Lys1097Arg)	8867	SYNJ1	Uncertain significance	rs946267411	RCV000530098;	N	MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34018057	34018057	T	C	21:g.34018057T>C	ClinGen:CA319422840
NM_203446.3(SYNJ1):c.3281_3286del (p.Leu1094_Pro1095del)	8867	SYNJ1	Uncertain significance	rs1283379982	RCV000702703;	N	MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934	21	34018061	34018066	TGCGGCA	T	21:g.34018061_34018066del	-
NM_203446.3(SYNJ1):c.3285G>A (p.Pro1095=)	8867	SYNJ1	Likely benign	rs376395608	RCV000655782;	N	MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34018062	34018062	C	T	21:g.34018062C>T	ClinGen:CA10003451	C4479313 617389 Epileptic encephalopathy, early infantile, 53;
NM_203446.3(SYNJ1):c.3285G>T (p.Pro1095=)	8867	SYNJ1	Likely benign	rs376395608	RCV000941255;	N	MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34018062	34018062	C	A	21:g.34018062C>A	-
NM_203446.3(SYNJ1):c.3275CGC[3] (p.Pro1093dup)	8867	SYNJ1	Uncertain significance	-1	RCV001367909;	N	MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934	21	34018066	34018067	A	AGCG	34018066	-
NM_203446.3(SYNJ1):c.3270A>G (p.Pro1090=)	8867	SYNJ1	Likely benign	-1	RCV001410979;	N	MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934	21	34018077	34018077	T	C	34018077	-
NM_203446.3(SYNJ1):c.3266A>G (p.Gln1089Arg)	8867	SYNJ1	Uncertain significance	rs779932426	RCV001343499;	N	MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34018081	34018081	T	C	34018081	-
NM_203446.3(SYNJ1):c.3261C>T (p.Asp1087=)	8867	SYNJ1	Likely benign	-1	RCV001474343;	N	MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34018086	34018086	G	A	34018086	-
NM_203446.3(SYNJ1):c.3249T>G (p.Ser1083Arg)	8867	SYNJ1	Uncertain significance	rs1396229702	RCV001317134;	N	MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34018098	34018098	A	C	34018098	-
NM_203446.3(SYNJ1):c.3248-6T>G	8867	SYNJ1	Uncertain significance	rs567223330	RCV001060692;	N	MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34018105	34018105	A	C	21:g.34018105A>C	-
NM_203446.3(SYNJ1):c.3215C>A (p.Pro1072Gln)	8867	SYNJ1	Uncertain significance	rs771524798	RCV000685214;	N	MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34018735	34018735	G	T	21:g.34018735G>T	-
NM_203446.3(SYNJ1):c.3209G>A (p.Arg1070Gln)	8867	SYNJ1	Uncertain significance	rs141107054	RCV000655746;	N	MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34018741	34018741	C	T	21:g.34018741C>T	ClinGen:CA10003485	C4479313 617389 Epileptic encephalopathy, early infantile, 53;
NM_203446.3(SYNJ1):c.3205A>G (p.Ser1069Gly)	8867	SYNJ1	Likely benign	rs149817769	RCV000557586;	N	MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34018745	34018745	T	C	21:g.34018745T>C	ClinGen:CA10003486
NM_203446.3(SYNJ1):c.3202C>G (p.Pro1068Ala)	8867	SYNJ1	Uncertain significance	rs1374696982	RCV001069121;	N	MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934	21	34018748	34018748	G	C	21:g.34018748G>C	-
NM_203446.3(SYNJ1):c.3195C>T (p.Pro1065=)	8867	SYNJ1	Likely benign	-1	RCV001462763;	N	MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34018755	34018755	G	A	34018755	-
NM_203446.3(SYNJ1):c.3181G>C (p.Val1061Leu)	8867	SYNJ1	Uncertain significance	rs753032623	RCV001219325;	N	MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934	21	34018769	34018769	C	G	21:g.34018769C>G	-
NM_203446.3(SYNJ1):c.3179C>G (p.Pro1060Arg)	8867	SYNJ1	Uncertain significance	rs1430500307	RCV000655762;	N	MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34018771	34018771	G	C	21:g.34018771G>C	ClinGen:CA410069312
NM_203446.3(SYNJ1):c.3175G>A (p.Gly1059Ser)	8867	SYNJ1	Uncertain significance	rs2040073930	RCV001064419;	N	MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934	21	34018775	34018775	C	T	21:g.34018775C>T	-
NM_203446.3(SYNJ1):c.3145_3147dup (p.Ser1049dup)	8867	SYNJ1	Uncertain significance	rs2040075484	RCV001222312;	N	MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934	21	34018802	34018803	G	GACT	21:g.34018802_34018803insACT	-
NM_203446.3(SYNJ1):c.3139C>G (p.Arg1047Gly)	8867	SYNJ1	Uncertain significance	rs147931121	RCV000699027;	N	MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934	21	34018811	34018811	G	C	21:g.34018811G>C	-
NM_203446.3(SYNJ1):c.3126del (p.Ser1043fs)	8867	SYNJ1	Pathogenic	rs1230133310	RCV001051902;	N	MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34018824	34018824	TG	T	21:g.34018824_34018824del	-
NM_203446.3(SYNJ1):c.3097T>C (p.Ser1033Pro)	8867	SYNJ1	Uncertain significance	rs61752559	RCV000704245\|RCV001333169;	N	MONDO: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:1934	21	34018853	34018853	A	G	21:g.34018853A>G	-	C4479313 617389 Epileptic encephalopathy, early infantile, 53;
NM_203446.3(SYNJ1):c.3057T>G (p.Ser1019Arg)	8867	SYNJ1	Uncertain significance	rs767760891	RCV000686383;	N	MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34018893	34018893	A	C	21:g.34018893A>C	-	C4479313 617389 Epileptic encephalopathy, early infantile, 53;
NM_203446.3(SYNJ1):c.3042T>A (p.Asp1014Glu)	8867	SYNJ1	Uncertain significance	rs115353088	RCV001060419;	N	MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34018908	34018908	A	T	21:g.34018908A>T	-
NM_203446.3(SYNJ1):c.3036A>C (p.Glu1012Asp)	8867	SYNJ1	Uncertain significance	rs2040223517	RCV001066571;	N	MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934	21	34022495	34022495	T	G	21:g.34022495T>G	-
NM_203446.3(SYNJ1):c.3007G>A (p.Ala1003Thr)	8867	SYNJ1	Uncertain significance	rs911362591	RCV001337508;	N	MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34022524	34022524	C	T	34022524	-
NM_203446.3(SYNJ1):c.2997T>C (p.Leu999=)	8867	SYNJ1	Likely benign	rs111774827	RCV000655777;	N	MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34022534	34022534	A	G	21:g.34022534A>G	ClinGen:CA10003532	C4479313 617389 Epileptic encephalopathy, early infantile, 53;
NM_203446.3(SYNJ1):c.2996T>A (p.Leu999His)	8867	SYNJ1	Uncertain significance	rs1601283152	RCV000821417;	N	MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34022535	34022535	A	T	21:g.34022535A>T	-
NM_203446.3(SYNJ1):c.2994G>A (p.Leu998=)	8867	SYNJ1	Likely benign	-1	RCV001472018;	N	MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34022537	34022537	C	T	34022537	-
NM_203446.3(SYNJ1):c.2981C>A (p.Thr994Lys)	8867	SYNJ1	Uncertain significance	rs776726487	RCV000819595;	N	MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34022550	34022550	G	T	21:g.34022550G>T	-
NM_203446.3(SYNJ1):c.2976A>G (p.Ser992=)	8867	SYNJ1	Likely benign	rs115204185	RCV000940079\|RCV001506297;	N	MedGen:CN517202\|MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34022555	34022555	T	C	21:g.34022555T>C	-
NM_203446.3(SYNJ1):c.2958T>C (p.Ile986=)	8867	SYNJ1	Likely benign	rs879835661	RCV000896725\|RCV001471061;	N	MedGen:CN517202\|MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34022573	34022573	A	G	21:g.34022573A>G	-
NM_203446.3(SYNJ1):c.2955A>G (p.Lys985=)	8867	SYNJ1	Likely benign	-1	RCV001425904;	N	MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934	21	34022576	34022576	T	C	34022576	-
NM_203446.3(SYNJ1):c.2954A>G (p.Lys985Arg)	8867	SYNJ1	Uncertain significance	rs1325187801	RCV000824245;	N	MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934	21	34022577	34022577	T	C	21:g.34022577T>C	-
NM_203446.3(SYNJ1):c.2943G>T (p.Met981Ile)	8867	SYNJ1	Benign/Likely benign	rs115683257	RCV000655774\|RCV001662715;	N	MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411\|MedGen:CN517202	21	34022588	34022588	C	A	21:g.34022588C>A	ClinGen:CA10003539	C4479313 617389 Epileptic encephalopathy, early infantile, 53;
NM_203446.3(SYNJ1):c.2937A>G (p.Glu979=)	8867	SYNJ1	Likely benign	-1	RCV001422927;	N	MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934	21	34022594	34022594	T	C	34022594	-
NM_203446.3(SYNJ1):c.2909G>C (p.Ser970Thr)	8867	SYNJ1	Likely benign	-1	RCV001425205;	N	MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934	21	34022622	34022622	C	G	34022622	-
NM_203446.3(SYNJ1):c.2902T>G (p.Leu968Val)	8867	SYNJ1	Uncertain significance	rs1372258834	RCV001233196;	N	MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34022629	34022629	A	C	21:g.34022629A>C	-
NM_203446.3(SYNJ1):c.2896A>G (p.Ile966Val)	8867	SYNJ1	Uncertain significance	rs1601283648	RCV000795373;	N	MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934	21	34022635	34022635	T	C	21:g.34022635T>C	-
NM_203446.3(SYNJ1):c.2885G>A (p.Arg962Gln)	8867	SYNJ1	Uncertain significance	rs371117480	RCV001046770;	N	MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934	21	34022646	34022646	C	T	21:g.34022646C>T	-
NM_203446.3(SYNJ1):c.2884C>T (p.Arg962Trp)	8867	SYNJ1	Uncertain significance	rs149147152	RCV000815512;	N	MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34022647	34022647	G	A	21:g.34022647G>A	-
NM_203446.3(SYNJ1):c.2882A>G (p.Asn961Ser)	8867	SYNJ1	Uncertain significance	rs754401787	RCV000545053;	N	MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34022649	34022649	T	C	21:g.34022649T>C	ClinGen:CA319424147	C4479313 617389 Epileptic encephalopathy, early infantile, 53;
NM_203446.3(SYNJ1):c.2875-5G>A	8867	SYNJ1	Likely benign	rs376206541	RCV000532720\|RCV001490505;	N	MedGen:CN517202\|MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34022661	34022661	C	T	21:g.34022661C>T	ClinGen:CA10003547
NM_203446.3(SYNJ1):c.2875-6C>T	8867	SYNJ1	Likely benign	rs183558612	RCV000973055;	N	MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934	21	34022662	34022662	G	A	21:g.34022662G>A	-
NM_203446.3(SYNJ1):c.2874+6G>A	8867	SYNJ1	Uncertain significance	rs368204504	RCV000707385;	N	MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934	21	34025592	34025592	C	T	21:g.34025592C>T	-
NM_203446.3(SYNJ1):c.2874+5G>A	8867	SYNJ1	Conflicting interpretations of pathogenicity	rs371765751	RCV000552019\|RCV000997819;	N	MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411\|MedGen:CN517202	21	34025593	34025593	C	T	21:g.34025593C>T	ClinGen:CA10003564	C4479313 617389 Epileptic encephalopathy, early infantile, 53;
NM_203446.3(SYNJ1):c.2861T>G (p.Leu954Arg)	8867	SYNJ1	Uncertain significance	rs755535504	RCV001315044;	N	MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34025611	34025611	A	C	34025611	-
NM_203446.3(SYNJ1):c.2860C>T (p.Leu954=)	8867	SYNJ1	Likely benign	-1	RCV001466862;	N	MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34025612	34025612	G	A	34025612	-
NM_203446.3(SYNJ1):c.2844C>T (p.Ala948=)	8867	SYNJ1	Likely benign	rs1432339434	RCV000655772\|RCV001431434;	N	MedGen:CN517202\|MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34025628	34025628	G	A	21:g.34025628G>A	ClinGen:CA512150663	C4479313 617389 Epileptic encephalopathy, early infantile, 53;
NM_203446.3(SYNJ1):c.2814G>A (p.Met938Ile)	8867	SYNJ1	Uncertain significance	rs546854566	RCV001062148;	N	MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934	21	34025658	34025658	C	T	21:g.34025658C>T	-
NM_203446.3(SYNJ1):c.2802A>G (p.Val934=)	8867	SYNJ1	Likely benign	-1	RCV001489371;	N	MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34025670	34025670	T	C	34025670	-
NM_203446.3(SYNJ1):c.2795+10T>C	8867	SYNJ1	Likely benign	rs756959605	RCV000932445;	N	MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34028987	34028987	A	G	21:g.34028987A>G	-
NM_203446.3(SYNJ1):c.2795+7T>C	8867	SYNJ1	Likely benign	-1	RCV001452648;	N	MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34028990	34028990	A	G	34028990	-
NM_203446.3(SYNJ1):c.2793_2797del (p.Arg932fs)	8867	SYNJ1	Pathogenic	rs778394516	RCV000691883;	N	MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934	21	34028997	34029001	CCTTAT	C	21:g.34028997_34029001del	-	C4479313 617389 Epileptic encephalopathy, early infantile, 53;
NM_203446.3(SYNJ1):c.2792T>C (p.Ile931Thr)	8867	SYNJ1	Uncertain significance	rs932390799	RCV000655752;	N	MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34029000	34029000	A	G	21:g.34029000A>G	ClinGen:CA319425769	C4479313 617389 Epileptic encephalopathy, early infantile, 53;
NM_203446.3(SYNJ1):c.2786T>C (p.Ile929Thr)	8867	SYNJ1	Uncertain significance	rs755258923	RCV000655756;	N	MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34029006	34029006	A	G	21:g.34029006A>G	ClinGen:CA10003594	C4479313 617389 Epileptic encephalopathy, early infantile, 53;
NM_203446.3(SYNJ1):c.2786T>G (p.Ile929Arg)	8867	SYNJ1	Uncertain significance	-1	RCV001362486;	N	MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934	21	34029006	34029006	A	C	34029006	-
NM_203446.3(SYNJ1):c.2782G>A (p.Val928Ile)	8867	SYNJ1	Uncertain significance	rs1327987813	RCV001066066;	N	MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934	21	34029010	34029010	C	T	21:g.34029010C>T	-
NM_203446.3(SYNJ1):c.2781A>G (p.Glu927=)	8867	SYNJ1	Uncertain significance	rs1350091132	RCV000694181;	N	MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934	21	34029011	34029011	T	C	21:g.34029011T>C	-	C4479313 617389 Epileptic encephalopathy, early infantile, 53;
NM_203446.3(SYNJ1):c.2766T>C (p.Phe922=)	8867	SYNJ1	Likely benign	-1	RCV001443665;	N	MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34029026	34029026	A	G	34029026	-
NM_203446.3(SYNJ1):c.2760G>C (p.Gln920His)	8867	SYNJ1	Uncertain significance	rs777815557	RCV001244206;	N	MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934	21	34029032	34029032	C	G	21:g.34029032C>G	-
NM_203446.3(SYNJ1):c.2757G>T (p.Leu919=)	8867	SYNJ1	Likely benign	-1	RCV001406669;	N	MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934	21	34029035	34029035	C	A	34029035	-
NM_203446.3(SYNJ1):c.2744T>C (p.Ile915Thr)	8867	SYNJ1	Uncertain significance	rs867564053	RCV000701873;	N	MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934	21	34029048	34029048	A	G	21:g.34029048A>G	-
NM_203446.3(SYNJ1):c.2744T>G (p.Ile915Ser)	8867	SYNJ1	Uncertain significance	rs867564053	RCV001245890;	N	MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934	21	34029048	34029048	A	C	21:g.34029048A>C	-
NM_203446.3(SYNJ1):c.2739C>T (p.Ala913=)	8867	SYNJ1	Likely benign	rs267606107	RCV000905639;	N	MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934	21	34029053	34029053	G	A	21:g.34029053G>A	-
NM_203446.3(SYNJ1):c.2720A>G (p.Asn907Ser)	8867	SYNJ1	Uncertain significance	rs542405957	RCV001039499;	N	MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934	21	34029072	34029072	T	C	21:g.34029072T>C	-
NM_203446.3(SYNJ1):c.2708C>G (p.Ser903Cys)	8867	SYNJ1	Uncertain significance	rs373328306	RCV001216706;	N	MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934	21	34029084	34029084	G	C	21:g.34029084G>C	-
NM_203446.3(SYNJ1):c.2691G>A (p.Leu897=)	8867	SYNJ1	Benign	rs115263361	RCV000923279;	N	MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34029101	34029101	C	T	21:g.34029101C>T	-
NM_203446.3(SYNJ1):c.2685A>G (p.Thr895=)	8867	SYNJ1	Uncertain significance	rs939655575	RCV000806394;	N	MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934	21	34029107	34029107	T	C	21:g.34029107T>C	-
NM_203446.3(SYNJ1):c.2685A>T (p.Thr895=)	8867	SYNJ1	Likely benign	-1	RCV001497748;	N	MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34029107	34029107	T	A	34029107	-
NM_203446.3(SYNJ1):c.2668G>C (p.Gly890Arg)	8867	SYNJ1	Uncertain significance	rs1187688126	RCV001071891;	N	MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934	21	34029124	34029124	C	G	21:g.34029124C>G	-
NM_203446.3(SYNJ1):c.2653G>A (p.Val885Ile)	8867	SYNJ1	Uncertain significance	rs763757097	RCV000705648;	N	MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934	21	34029139	34029139	C	T	21:g.34029139C>T	-	C4479313 617389 Epileptic encephalopathy, early infantile, 53;
NM_203446.3(SYNJ1):c.2631G>C (p.Glu877Asp)	8867	SYNJ1	Uncertain significance	rs375526059	RCV000655747;	N	MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34029161	34029161	C	G	21:g.34029161C>G	ClinGen:CA10003608	C4479313 617389 Epileptic encephalopathy, early infantile, 53;
NM_203446.3(SYNJ1):c.2609T>C (p.Ile870Thr)	8867	SYNJ1	Uncertain significance	rs753305423	RCV001222410;	N	MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934	21	34029183	34029183	A	G	21:g.34029183A>G	-
NM_203446.3(SYNJ1):c.2608A>G (p.Ile870Val)	8867	SYNJ1	Uncertain significance	rs2040476929	RCV001348225;	N	MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34029184	34029184	T	C	34029184	-
NM_203446.3(SYNJ1):c.2607T>C (p.Asp869=)	8867	SYNJ1	Likely benign	-1	RCV001465164;	N	MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34029185	34029185	A	G	34029185	-
NM_203446.3(SYNJ1):c.2604A>G (p.Ile868Met)	8867	SYNJ1	Uncertain significance	rs377165480	RCV000539702;	N	MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34029188	34029188	T	C	21:g.34029188T>C	ClinGen:CA10003614	C4479313 617389 Epileptic encephalopathy, early infantile, 53;
NM_203446.3(SYNJ1):c.2603T>C (p.Ile868Thr)	8867	SYNJ1	Uncertain significance	-1	RCV001373660;	N	MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34029189	34029189	A	G	34029189	-
NM_203446.3(SYNJ1):c.2597T>C (p.Ile866Thr)	8867	SYNJ1	Uncertain significance	rs114053718	RCV000655751;	N	MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34029195	34029195	A	G	21:g.34029195A>G	ClinGen:CA10003616
NM_203446.3(SYNJ1):c.2587G>A (p.Val863Ile)	8867	SYNJ1	Likely benign	-1	RCV001471926;	N	MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34029205	34029205	C	T	34029205	-
NM_203446.3(SYNJ1):c.2586C>T (p.Val862=)	8867	SYNJ1	Likely benign	rs771973400	RCV000531679;	N	MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34029206	34029206	G	A	21:g.34029206G>A	ClinGen:CA10003620	C4479313 617389 Epileptic encephalopathy, early infantile, 53;
NM_203446.3(SYNJ1):c.2580-7C>T	8867	SYNJ1	Likely benign	-1	RCV001402491;	N	MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934	21	34029219	34029219	G	A	34029219	-
NM_203446.3(SYNJ1):c.2580-9T>C	8867	SYNJ1	Likely benign	rs1601308461	RCV000938946\|RCV001474685;	N	MedGen:CN517202\|MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34029221	34029221	A	G	21:g.34029221A>G	-
NM_203446.3(SYNJ1):c.2567C>A (p.Thr856Asn)	8867	SYNJ1	Uncertain significance	rs1191504880	RCV000798550;	N	MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934	21	34029325	34029325	G	T	21:g.34029325G>T	-
NM_203446.3(SYNJ1):c.2547T>C (p.Tyr849=)	8867	SYNJ1	Likely benign	rs61756207	RCV000953864;	N	MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934	21	34029345	34029345	A	G	21:g.34029345A>G	-
NM_203446.3(SYNJ1):c.2541_2542delinsTT (p.His848Tyr)	8867	SYNJ1	Likely benign	rs1601309236	RCV000938087;	N	MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34029350	34029351	GC	AA	NC_000021.8:g.34029350_34029351delinsAA	-
NM_203446.3(SYNJ1):c.2525C>T (p.Thr842Ile)	8867	SYNJ1	Uncertain significance	rs370346211	RCV001065439;	N	MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934	21	34029367	34029367	G	A	21:g.34029367G>A	-
NM_203446.3(SYNJ1):c.2525C>A (p.Thr842Asn)	8867	SYNJ1	Uncertain significance	-1	RCV001366504;	N	MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934	21	34029367	34029367	G	T	34029367	-
NM_203446.3(SYNJ1):c.2524A>G (p.Thr842Ala)	8867	SYNJ1	Uncertain significance	rs779943757	RCV001237104;	N	MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34029368	34029368	T	C	21:g.34029368T>C	-
NM_203446.3(SYNJ1):c.2519C>T (p.Thr840Met)	8867	SYNJ1	Uncertain significance	rs560413403	RCV000793880;	N	MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934	21	34029373	34029373	G	A	21:g.34029373G>A	-
NM_203446.3(SYNJ1):c.2505C>A (p.Ser835Arg)	8867	SYNJ1	Uncertain significance	rs748032685	RCV001042341\|RCV000997820\|RCV001197985;	N	MONDO: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:1934	21	34029387	34029387	G	T	21:g.34029387G>T	-
NM_203446.3(SYNJ1):c.2475TCT[1] (p.Leu827del)	8867	SYNJ1	Uncertain significance	rs769856515	RCV000687857;	N	MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34029412	34029414	TAGA	T	21:g.34029412_34029414del	-	C4479313 617389 Epileptic encephalopathy, early infantile, 53;
NM_203446.3(SYNJ1):c.2472A>C (p.Leu824=)	8867	SYNJ1	Likely benign	rs1601309726	RCV000915737\|RCV001434092;	N	MedGen:CN517202\|MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34029420	34029420	T	G	21:g.34029420T>G	-
NM_203446.3(SYNJ1):c.2462-6C>A	8867	SYNJ1	Uncertain significance	rs1601309850	RCV000815447;	N	MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34029436	34029436	G	T	21:g.34029436G>T	-
NM_203446.3(SYNJ1):c.2462-10C>G	8867	SYNJ1	Uncertain significance	rs775703634	RCV000655763;	N	MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34029440	34029440	G	C	21:g.34029440G>C	ClinGen:CA10003656	C4479313 617389 Epileptic encephalopathy, early infantile, 53;
NM_203446.3(SYNJ1):c.2446C>T (p.Pro816Ser)	8867	SYNJ1	Uncertain significance	rs1473591033	RCV001326934;	N	MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34030041	34030041	G	A	34030041	-
NM_203446.3(SYNJ1):c.2439G>A (p.Arg813=)	8867	SYNJ1	Likely benign	-1	RCV001392287;	N	MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934	21	34030048	34030048	C	T	34030048	-
NM_203446.3(SYNJ1):c.2403C>T (p.Thr801=)	8867	SYNJ1	Likely benign	-1	RCV001425188;	N	MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934	21	34030084	34030084	G	A	34030084	-
NM_203446.3(SYNJ1):c.2378A>G (p.Tyr793Cys)	8867	SYNJ1	Uncertain significance	rs1283151166	RCV000703018;	N	MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934	21	34030109	34030109	T	C	21:g.34030109T>C	-
NM_203446.3(SYNJ1):c.2373C>T (p.Asp791=)	8867	SYNJ1	Likely benign	-1	RCV001423380;	N	MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934	21	34030114	34030114	G	A	34030114	-
NM_203446.3(SYNJ1):c.2372A>G (p.Asp791Gly)	8867	SYNJ1	Uncertain significance	rs1195357077	RCV001347848;	N	MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34030115	34030115	T	C	34030115	-
NM_203446.3(SYNJ1):c.2364G>C (p.Leu788Phe)	8867	SYNJ1	Uncertain significance	rs2040517909	RCV001040571;	N	MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934	21	34030123	34030123	C	G	21:g.34030123C>G	-
NM_203446.3(SYNJ1):c.2352T>C (p.Tyr784=)	8867	SYNJ1	Likely benign	-1	RCV001413761;	N	MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934	21	34030135	34030135	A	G	34030135	-
NM_203446.3(SYNJ1):c.2346G>A (p.Pro782=)	8867	SYNJ1	Likely benign	rs61753644	RCV000555768\|RCV001591312;	N	MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411\|MedGen:CN517202	21	34030141	34030141	C	T	21:g.34030141C>T	ClinGen:CA10003678	C4479313 617389 Epileptic encephalopathy, early infantile, 53;
NM_203446.3(SYNJ1):c.2332G>A (p.Val778Ile)	8867	SYNJ1	Uncertain significance	rs762956275	RCV001307745;	N	MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34030155	34030155	C	T	34030155	-
NM_203446.3(SYNJ1):c.2325A>G (p.Glu775=)	8867	SYNJ1	Likely benign	-1	RCV001432448;	N	MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34030162	34030162	T	C	34030162	-
NM_203446.3(SYNJ1):c.2304+9A>G	8867	SYNJ1	Likely benign	-1	RCV001436598;	N	MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34037214	34037214	T	C	34037214	-
NM_203446.3(SYNJ1):c.2295T>C (p.Asn765=)	8867	SYNJ1	Likely benign	-1	RCV001461471;	N	MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34037232	34037232	A	G	34037232	-
NM_203446.3(SYNJ1):c.2282T>C (p.Ile761Thr)	8867	SYNJ1	Uncertain significance	rs373953139	RCV001070349;	N	MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934	21	34037245	34037245	A	G	21:g.34037245A>G	-
NM_203446.3(SYNJ1):c.2254G>T (p.Asp752Tyr)	8867	SYNJ1	Uncertain significance	rs145978776	RCV000695137\|RCV001529862;	N	MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934\|MedGen:CN517202	21	34037273	34037273	C	A	21:g.34037273C>A	-	C4479313 617389 Epileptic encephalopathy, early infantile, 53;
NM_203446.3(SYNJ1):c.2254del (p.Asp752fs)	8867	SYNJ1	Likely pathogenic	rs2040866242	RCV001281693;	N	MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34037273	34037273	TC	T	34037272	-
NM_203446.3(SYNJ1):c.2250T>A (p.Asn750Lys)	8867	SYNJ1	Uncertain significance	rs570501803	RCV000809591;	N	MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934	21	34037277	34037277	A	T	21:g.34037277A>T	-
NM_203446.3(SYNJ1):c.2236A>C (p.Ile746Leu)	8867	SYNJ1	Uncertain significance	rs2040867077	RCV001063828;	N	MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934	21	34037291	34037291	T	G	21:g.34037291T>G	-
NM_203446.3(SYNJ1):c.2226T>A (p.Val742=)	8867	SYNJ1	Benign	rs566533509	RCV000655770;	N	MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34037301	34037301	A	T	21:g.34037301A>T	ClinGen:CA10003708	C4479313 617389 Epileptic encephalopathy, early infantile, 53;
NM_203446.3(SYNJ1):c.2223A>G (p.Glu741=)	8867	SYNJ1	Likely benign	-1	RCV001429295;	N	MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34037304	34037304	T	C	34037304	-
NM_203446.3(SYNJ1):c.2217C>T (p.Asn739=)	8867	SYNJ1	Likely benign	-1	RCV001501400;	N	MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34037310	34037310	G	A	34037310	-
NM_203446.3(SYNJ1):c.2205C>T (p.Ile735=)	8867	SYNJ1	Likely benign	rs149236383	RCV000919206;	N	MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34037322	34037322	G	A	21:g.34037322G>A	-
NM_203446.3(SYNJ1):c.2202A>C (p.Arg734=)	8867	SYNJ1	Likely benign	-1	RCV001494939;	N	MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34037325	34037325	T	G	34037325	-
NM_203446.3(SYNJ1):c.2201G>A (p.Arg734Gln)	8867	SYNJ1	Uncertain significance	-1	RCV001366805;	N	MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934	21	34037326	34037326	C	T	34037326	-
NM_203446.3(SYNJ1):c.2172T>C (p.Tyr724=)	8867	SYNJ1	Likely benign	rs144454116	RCV000880161;	N	MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34037355	34037355	A	G	21:g.34037355A>G	-
NM_203446.3(SYNJ1):c.2171A>G (p.Tyr724Cys)	8867	SYNJ1	Uncertain significance	rs201485861	RCV000690036;	N	MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934	21	34037356	34037356	T	C	21:g.34037356T>C	-
NM_203446.3(SYNJ1):c.2157A>G (p.Leu719=)	8867	SYNJ1	Likely benign	rs112875942	RCV000915369;	N	MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34037370	34037370	T	C	21:g.34037370T>C	-
NM_203446.3(SYNJ1):c.2146-8G>A	8867	SYNJ1	Likely benign	rs759701632	RCV000655781;	N	MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34037389	34037389	C	T	21:g.34037389C>T	ClinGen:CA10003721
NM_203446.3(SYNJ1):c.2125C>G (p.Arg709Gly)	8867	SYNJ1	Uncertain significance	rs2040913777	RCV001322372;	N	MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34038273	34038273	G	C	34038273	-
NM_203446.3(SYNJ1):c.2120T>C (p.Ile707Thr)	8867	SYNJ1	Conflicting interpretations of pathogenicity	rs147929290	RCV000655757\|RCV001531537;	N	MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411\|MedGen:CN517202	21	34038278	34038278	A	G	21:g.34038278A>G	ClinGen:CA10003744	C4479313 617389 Epileptic encephalopathy, early infantile, 53;
NM_203446.3(SYNJ1):c.2113A>G (p.Ile705Val)	8867	SYNJ1	Uncertain significance	rs761614356	RCV001042712;	N	MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934	21	34038285	34038285	T	C	21:g.34038285T>C	-
NM_203446.3(SYNJ1):c.2113A>T (p.Ile705Leu)	8867	SYNJ1	Uncertain significance	-1	RCV001365793;	N	MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934	21	34038285	34038285	T	A	34038285	-
NM_203446.3(SYNJ1):c.2090T>C (p.Val697Ala)	8867	SYNJ1	Uncertain significance	rs764946363	RCV000804235;	N	MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934	21	34038308	34038308	A	G	21:g.34038308A>G	-
NM_203446.3(SYNJ1):c.2079G>A (p.Gly693=)	8867	SYNJ1	Likely benign	-1	RCV001454430;	N	MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34038319	34038319	C	T	34038319	-
NM_203446.3(SYNJ1):c.2076A>T (p.Ala692=)	8867	SYNJ1	Likely benign	-1	RCV001451809;	N	MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34038322	34038322	T	A	34038322	-
NM_203446.3(SYNJ1):c.2050T>G (p.Cys684Gly)	8867	SYNJ1	Uncertain significance	rs751110096	RCV001296998;	N	MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934	21	34038348	34038348	A	C	34038348	-
NM_203446.3(SYNJ1):c.2047C>T (p.Leu683Phe)	8867	SYNJ1	Uncertain significance	rs2040916269	RCV001041815;	N	MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934	21	34038351	34038351	G	A	21:g.34038351G>A	-
NM_203446.3(SYNJ1):c.2025A>G (p.Arg675=)	8867	SYNJ1	Likely benign	-1	RCV001431935;	N	MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34038373	34038373	T	C	34038373	-
NM_203446.3(SYNJ1):c.1971T>C (p.Thr657=)	8867	SYNJ1	Benign	-1	RCV001519298;	N	MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934	21	34038427	34038427	A	G	34038427	-
NM_203446.3(SYNJ1):c.1968T>C (p.Asp656=)	8867	SYNJ1	Likely benign	rs140112176	RCV000925322\|RCV001499277;	N	MedGen:CN517202\|MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34038430	34038430	A	G	21:g.34038430A>G	-
NM_203446.3(SYNJ1):c.1961C>T (p.Ala654Val)	8867	SYNJ1	Uncertain significance	rs2040918972	RCV001215540;	N	MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934	21	34038437	34038437	G	A	21:g.34038437G>A	-
NM_203446.3(SYNJ1):c.1957G>A (p.Val653Ile)	8867	SYNJ1	Uncertain significance	rs1456047190	RCV001050555;	N	MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34038441	34038441	C	T	21:g.34038441C>T	-
NM_203446.3(SYNJ1):c.1953-10T>C	8867	SYNJ1	Likely benign	-1	RCV001412194;	N	MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934	21	34038455	34038455	A	G	34038455	-
NM_203446.3(SYNJ1):c.1933_1934delinsAG (p.Gln645Arg)	8867	SYNJ1	Uncertain significance	rs1555896707	RCV000538615;	N	MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34038761	34038762	TG	CT	NC_000021.8:g.34038761_34038762delinsCT	ClinGen:CA658658885
NM_203446.3(SYNJ1):c.1914G>A (p.Leu638=)	8867	SYNJ1	Benign	rs534908601	RCV000655771;	N	MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34038781	34038781	C	T	21:g.34038781C>T	ClinGen:CA10003778
NM_203446.3(SYNJ1):c.1906G>A (p.Val636Ile)	8867	SYNJ1	Conflicting interpretations of pathogenicity	rs373820739	RCV000527465\|RCV000784961\|RCV000784962\|RCV000784963;	N	MONDO: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:003	21	34038789	34038789	C	T	21:g.34038789C>T	ClinGen:CA10003779
NM_203446.3(SYNJ1):c.1886C>T (p.Ala629Val)	8867	SYNJ1	Uncertain significance	rs773372851	RCV001245514;	N	MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934	21	34038809	34038809	G	A	21:g.34038809G>A	-
NM_203446.3(SYNJ1):c.1878G>A (p.Val626=)	8867	SYNJ1	Likely benign	rs1601348321	RCV000981561;	N	MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34038817	34038817	C	T	21:g.34038817C>T	-
NM_203446.3(SYNJ1):c.1876G>A (p.Val626Met)	8867	SYNJ1	Uncertain significance	rs2040938849	RCV001039021;	N	MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934	21	34038819	34038819	C	T	21:g.34038819C>T	-
NM_203446.3(SYNJ1):c.1868A>G (p.Asn623Ser)	8867	SYNJ1	Uncertain significance	rs1298315820	RCV001346170;	N	MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34038827	34038827	T	C	34038827	-
NM_203446.3(SYNJ1):c.1867A>G (p.Asn623Asp)	8867	SYNJ1	Uncertain significance	rs377719553	RCV001210497;	N	MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934	21	34038828	34038828	T	C	21:g.34038828T>C	-
NM_203446.3(SYNJ1):c.1846C>A (p.Gln616Lys)	8867	SYNJ1	Uncertain significance	rs2040940591	RCV001224989;	N	MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34038849	34038849	G	T	21:g.34038849G>T	-
NM_203446.3(SYNJ1):c.1835C>A (p.Ala612Asp)	8867	SYNJ1	Uncertain significance	rs2040941103	RCV001059002;	N	MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34038860	34038860	G	T	21:g.34038860G>T	-
NM_203446.3(SYNJ1):c.1832G>T (p.Trp611Leu)	8867	SYNJ1	Uncertain significance	rs1481650772	RCV000655765;	N	MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34038863	34038863	C	A	21:g.34038863C>A	ClinGen:CA410081076
NM_203446.3(SYNJ1):c.1830C>G (p.Leu610=)	8867	SYNJ1	Likely benign	rs115658799	RCV000551316;	N	MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34038865	34038865	G	C	21:g.34038865G>C	ClinGen:CA10003788	C4479313 617389 Epileptic encephalopathy, early infantile, 53;
NM_203446.3(SYNJ1):c.1825A>C (p.Lys609Gln)	8867	SYNJ1	Uncertain significance	rs760221186	RCV001341639;	N	MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34038870	34038870	T	G	34038870	-
NM_203446.3(SYNJ1):c.1812-10T>A	8867	SYNJ1	Uncertain significance	rs2040942245	RCV001240182;	N	MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934	21	34038893	34038893	A	T	21:g.34038893A>T	-
NM_203446.3(SYNJ1):c.1800T>C (p.Ile600=)	8867	SYNJ1	Likely benign	-1	RCV001432872;	N	MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34042609	34042609	A	G	34042609	-
NM_203446.3(SYNJ1):c.1789G>A (p.Ala597Thr)	8867	SYNJ1	Uncertain significance	rs1601363222	RCV000795490;	N	MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934	21	34042620	34042620	C	T	21:g.34042620C>T	-
NM_203446.3(SYNJ1):c.1728T>C (p.Asp576=)	8867	SYNJ1	Likely benign	-1	RCV001454851;	N	MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34042681	34042681	A	G	34042681	-
NM_203446.3(SYNJ1):c.1719G>A (p.Glu573=)	8867	SYNJ1	Likely benign	-1	RCV001499069;	N	MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34045657	34045657	C	T	34045657	-
NM_203446.3(SYNJ1):c.1717G>C (p.Glu573Gln)	8867	SYNJ1	Uncertain significance	rs1057062132	RCV001209351;	N	MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934	21	34045659	34045659	C	G	21:g.34045659C>G	-
NM_203446.3(SYNJ1):c.1707T>G (p.Ala569=)	8867	SYNJ1	Likely benign	rs1384171922	RCV000891130;	N	MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34045669	34045669	A	C	21:g.34045669A>C	-
NM_203446.3(SYNJ1):c.1701G>C (p.Lys567Asn)	8867	SYNJ1	Uncertain significance	rs147684005	RCV001319134;	N	MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34045675	34045675	C	G	34045675	-
NM_203446.3(SYNJ1):c.1671A>G (p.Thr557=)	8867	SYNJ1	Likely benign	-1	RCV001401524;	N	MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934	21	34045705	34045705	T	C	34045705	-
NM_203446.3(SYNJ1):c.1659T>C (p.Phe553=)	8867	SYNJ1	Likely benign	-1	RCV001399892;	N	MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934	21	34045717	34045717	A	G	34045717	-
NM_203446.3(SYNJ1):c.1641A>G (p.Gln547=)	8867	SYNJ1	Likely benign	rs753893833	RCV000932362\|RCV001498069;	N	MedGen:CN517202\|MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34045735	34045735	T	C	21:g.34045735T>C	-
NM_203446.3(SYNJ1):c.1611C>T (p.Val537=)	8867	SYNJ1	Likely benign	rs150180190	RCV000977583;	N	MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934	21	34045765	34045765	G	A	21:g.34045765G>A	-
NM_203446.3(SYNJ1):c.1611C>G (p.Val537=)	8867	SYNJ1	Likely benign	-1	RCV001492901;	N	MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34045765	34045765	G	C	34045765	-
NM_203446.3(SYNJ1):c.1609G>A (p.Val537Ile)	8867	SYNJ1	Uncertain significance	rs1555898799	RCV000655753;	N	MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34045767	34045767	C	T	21:g.34045767C>T	ClinGen:CA410085364
NM_203446.3(SYNJ1):c.1603G>A (p.Val535Ile)	8867	SYNJ1	Uncertain significance	rs145712835	RCV000698348;	N	MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934	21	34045773	34045773	C	T	21:g.34045773C>T	-
NM_203446.3(SYNJ1):c.1601G>A (p.Arg534Gln)	8867	SYNJ1	Uncertain significance	rs750585610	RCV001300977;	N	MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934	21	34045775	34045775	C	T	34045775	-
NM_203446.3(SYNJ1):c.1555A>G (p.Ser519Gly)	8867	SYNJ1	Uncertain significance	rs148901211	RCV000538976\|RCV001171961;	N	MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411\|MedGen:CN517202	21	34045821	34045821	T	C	21:g.34045821T>C	ClinGen:CA10003845	C4479313 617389 Epileptic encephalopathy, early infantile, 53;
NM_203446.3(SYNJ1):c.1554G>C (p.Lys518Asn)	8867	SYNJ1	Uncertain significance	rs371301276	RCV000822292;	N	MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34045822	34045822	C	G	21:g.34045822C>G	-
NM_203446.3(SYNJ1):c.1546G>A (p.Val516Ile)	8867	SYNJ1	Benign	rs113708828	RCV000526405;	N	MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34045830	34045830	C	T	21:g.34045830C>T	ClinGen:CA10003848	C4479313 617389 Epileptic encephalopathy, early infantile, 53;
NM_203446.3(SYNJ1):c.1535C>T (p.Ala512Val)	8867	SYNJ1	Likely benign	rs115989459	RCV000655776;	N	MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34045841	34045841	G	A	21:g.34045841G>A	ClinGen:CA10003850
NM_203446.3(SYNJ1):c.1534+5A>G	8867	SYNJ1	Uncertain significance	rs367718431	RCV001062078;	N	MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934	21	34048637	34048637	T	C	21:g.34048637T>C	-
NM_203446.3(SYNJ1):c.1511-4A>G	8867	SYNJ1	Likely benign	rs533995497	RCV000941256;	N	MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34048669	34048669	T	C	21:g.34048669T>C	-
NM_203446.3(SYNJ1):c.1508G>A (p.Arg503His)	8867	SYNJ1	Uncertain significance	rs756697570	RCV000696652;	N	MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934	21	34050957	34050957	C	T	21:g.34050957C>T	-	C4479313 617389 Epileptic encephalopathy, early infantile, 53;
NM_203446.3(SYNJ1):c.1507C>T (p.Arg503Cys)	8867	SYNJ1	Uncertain significance	rs115061921	RCV000799986;	N	MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934	21	34050958	34050958	G	A	21:g.34050958G>A	-
NM_203446.3(SYNJ1):c.1481G>A (p.Arg494Gln)	8867	SYNJ1	Uncertain significance	rs781599934	RCV000538149;	N	MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34050984	34050984	C	T	21:g.34050984C>T	ClinGen:CA10003896	C4479313 617389 Epileptic encephalopathy, early infantile, 53;
NM_203446.3(SYNJ1):c.1466T>C (p.Leu489Ser)	8867	SYNJ1	Uncertain significance	rs1238065971	RCV000655761;	N	MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34050999	34050999	A	G	21:g.34050999A>G	ClinGen:CA410089203	C4479313 617389 Epileptic encephalopathy, early infantile, 53;
NM_203446.3(SYNJ1):c.1465T>G (p.Leu489Val)	8867	SYNJ1	Uncertain significance	rs1261158817	RCV001208621;	N	MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934	21	34051000	34051000	A	C	21:g.34051000A>C	-
NM_203446.3(SYNJ1):c.1449T>G (p.Asn483Lys)	8867	SYNJ1	Uncertain significance	rs1490214505	RCV000817025;	N	MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34051016	34051016	A	C	21:g.34051016A>C	-
NM_203446.3(SYNJ1):c.1427T>C (p.Ile476Thr)	8867	SYNJ1	Uncertain significance	rs771070426	RCV001324014;	N	MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34051038	34051038	A	G	34051038	-
NM_203446.3(SYNJ1):c.1400T>A (p.Phe467Tyr)	8867	SYNJ1	Uncertain significance	rs922232672	RCV001313903;	N	MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34051065	34051065	A	T	34051065	-
NM_203446.3(SYNJ1):c.1399T>C (p.Phe467Leu)	8867	SYNJ1	Uncertain significance	rs2041510835	RCV001309541;	N	MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34051066	34051066	A	G	34051066	-
NM_203446.3(SYNJ1):c.1370G>A (p.Arg457His)	8867	SYNJ1	Uncertain significance	-1	RCV001360277;	N	MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934	21	34051095	34051095	C	T	34051095	-
NM_203446.3(SYNJ1):c.1367C>A (p.Ala456Asp)	8867	SYNJ1	Uncertain significance	rs2041512501	RCV001248168;	N	MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934	21	34051098	34051098	G	T	21:g.34051098G>T	-
NM_203446.3(SYNJ1):c.1353+5A>G	8867	SYNJ1	Uncertain significance	rs376825246	RCV001217662;	N	MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934	21	34053801	34053801	T	C	21:g.34053801T>C	-
NM_203446.3(SYNJ1):c.1349C>A (p.Ala450Glu)	8867	SYNJ1	Uncertain significance	rs1416896181	RCV001059202;	N	MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34053810	34053810	G	T	21:g.34053810G>T	-
NM_203446.3(SYNJ1):c.1323A>G (p.Ala441=)	8867	SYNJ1	Likely benign	rs1468223961	RCV000976420\|RCV001495830;	N	MedGen:CN517202\|MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934	21	34053836	34053836	T	C	21:g.34053836T>C	-
NM_203446.3(SYNJ1):c.1315A>G (p.Ile439Val)	8867	SYNJ1	Uncertain significance	rs1569085743	RCV001315095;	N	MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34053844	34053844	T	C	34053844	-
NM_203446.3(SYNJ1):c.1311T>C (p.Ser437=)	8867	SYNJ1	Likely benign	-1	RCV001479425;	N	MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34053848	34053848	A	G	34053848	-
NM_203446.3(SYNJ1):c.1306A>G (p.Ile436Val)	8867	SYNJ1	Uncertain significance	rs763870801	RCV000655754;	N	MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34053853	34053853	T	C	21:g.34053853T>C	ClinGen:CA10003924
NM_203446.3(SYNJ1):c.1291G>A (p.Val431Met)	8867	SYNJ1	Uncertain significance	rs749980859	RCV000800971;	N	MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934	21	34053868	34053868	C	T	21:g.34053868C>T	-
NM_203446.3(SYNJ1):c.1279_1280dup (p.Met428fs)	8867	SYNJ1	Pathogenic	-1	RCV001389214;	N	MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934	21	34053878	34053879	T	TGA	34053878	-
NM_203446.3(SYNJ1):c.1277G>A (p.Arg426Gln)	8867	SYNJ1	Uncertain significance	rs1601403500	RCV000997823\|RCV001205779;	N	MedGen:CN517202\|MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34053882	34053882	C	T	21:g.34053882C>T	-
NM_203446.3(SYNJ1):c.1265A>C (p.Gln422Pro)	8867	SYNJ1	Uncertain significance	rs1474918219	RCV001337826;	N	MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34053894	34053894	T	G	34053894	-
NM_203446.3(SYNJ1):c.1259G>C (p.Arg420Pro)	8867	SYNJ1	Pathogenic	rs1060499619	RCV000445361;	N	MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34053900	34053900	C	G	21:g.34053900C>G	ClinGen:CA16609345,OMIM:604297.0002
NM_203446.3(SYNJ1):c.1257T>G (p.Thr419=)	8867	SYNJ1	Likely benign	-1	RCV001498863;	N	MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34053902	34053902	A	C	34053902	-
NM_203446.3(SYNJ1):c.1245T>C (p.Pro415=)	8867	SYNJ1	Likely benign	rs111655347	RCV000915370;	N	MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34053914	34053914	A	G	21:g.34053914A>G	-
NM_203446.3(SYNJ1):c.1201-2A>G	8867	SYNJ1	Likely pathogenic	rs1569086116	RCV000691672;	N	MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934	21	34053960	34053960	T	C	21:g.34053960T>C	-	C4479313 617389 Epileptic encephalopathy, early infantile, 53;
NM_203446.3(SYNJ1):c.1201-3A>T	8867	SYNJ1	Benign	-1	RCV001518259\|RCV001579407\|RCV001712932;	N	MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934\|MedGen:CN169374\|MedGen:CN517202	21	34053961	34053961	T	A	34053961	-
NM_203446.3(SYNJ1):c.1182G>A (p.Gln394=)	8867	SYNJ1	Benign	-1	RCV001520167;	N	MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934	21	34056366	34056366	C	T	34056366	-
NM_203446.3(SYNJ1):c.1179G>T (p.Val393=)	8867	SYNJ1	Likely benign	-1	RCV001472588;	N	MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34056369	34056369	C	A	34056369	-
NM_203446.3(SYNJ1):c.1176T>C (p.Ser392=)	8867	SYNJ1	Likely benign	-1	RCV001421190;	N	MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934	21	34056372	34056372	A	G	34056372	-
NM_203446.3(SYNJ1):c.1167A>G (p.Arg389=)	8867	SYNJ1	Likely benign	rs747274485	RCV000934741\|RCV001432807;	N	MedGen:CN517202\|MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34056381	34056381	T	C	21:g.34056381T>C	-
NM_203446.3(SYNJ1):c.1157G>A (p.Cys386Tyr)	8867	SYNJ1	Uncertain significance	rs2041732521	RCV001053016;	N	MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34056391	34056391	C	T	21:g.34056391C>T	-
NM_203446.3(SYNJ1):c.1150T>C (p.Leu384=)	8867	SYNJ1	Likely benign	-1	RCV001397364;	N	MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934	21	34056398	34056398	A	G	34056398	-
NM_203446.3(SYNJ1):c.1126A>G (p.Ser376Gly)	8867	SYNJ1	Uncertain significance	rs1163151498	RCV001046908;	N	MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934	21	34056422	34056422	T	C	21:g.34056422T>C	-
NM_203446.3(SYNJ1):c.1119-7G>C	8867	SYNJ1	Likely benign	rs562245468	RCV000915086\|RCV001500573;	N	MedGen:CN517202\|MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34056436	34056436	C	G	21:g.34056436C>G	-
NM_203446.3(SYNJ1):c.1119-8G>T	8867	SYNJ1	Benign	rs138882423	RCV000548562\|RCV001288849\|RCV001595020;	N	MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411\|MedGen:CN169374\|MedGen:CN517202	21	34056437	34056437	C	A	21:g.34056437C>A	ClinGen:CA10003962	C4479313 617389 Epileptic encephalopathy, early infantile, 53;
NM_203446.3(SYNJ1):c.1118+9G>A	8867	SYNJ1	Likely benign	-1	RCV001427550;	N	MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934	21	34058049	34058049	C	T	34058049	-
NM_203446.3(SYNJ1):c.1106G>A (p.Ser369Asn)	8867	SYNJ1	Uncertain significance	rs147544792	RCV000706776;	N	MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934	21	34058070	34058070	C	T	21:g.34058070C>T	-	C4479313 617389 Epileptic encephalopathy, early infantile, 53;
NM_203446.3(SYNJ1):c.1093dup (p.Tyr365fs)	8867	SYNJ1	Pathogenic	-1	RCV001387875;	N	MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34058082	34058083	T	TA	34058082	-
NM_203446.3(SYNJ1):c.1081T>A (p.Tyr361Asn)	8867	SYNJ1	Benign	rs533216340	RCV000908890;	N	MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34058095	34058095	A	T	21:g.34058095A>T	-
NM_203446.3(SYNJ1):c.1046G>T (p.Ser349Ile)	8867	SYNJ1	Uncertain significance	rs748368610	RCV001226521;	N	MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34058130	34058130	C	A	21:g.34058130C>A	-
NM_203446.3(SYNJ1):c.1045A>G (p.Ser349Gly)	8867	SYNJ1	Likely benign	-1	RCV001441239;	N	MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34058131	34058131	T	C	34058131	-
NM_203446.3(SYNJ1):c.1042C>A (p.His348Asn)	8867	SYNJ1	Uncertain significance	rs2041820050	RCV001229270;	N	MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34058134	34058134	G	T	21:g.34058134G>T	-
NM_203446.3(SYNJ1):c.1030G>A (p.Ala344Thr)	8867	SYNJ1	Likely benign	rs114942253	RCV000535919\|RCV001086242;	N	MedGen:CN517202\|MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34058146	34058146	C	T	21:g.34058146C>T	ClinGen:CA10003981
NM_203446.3(SYNJ1):c.1017T>C (p.Val339=)	8867	SYNJ1	Likely benign	-1	RCV001504874;	N	MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34058159	34058159	A	G	34058159	-
NM_203446.3(SYNJ1):c.1004A>C (p.Tyr335Ser)	8867	SYNJ1	Uncertain significance	rs1469620917	RCV000823534;	N	MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934	21	34058172	34058172	T	G	21:g.34058172T>G	-
NM_203446.3(SYNJ1):c.1002C>T (p.Asp334=)	8867	SYNJ1	Likely benign	rs763601982	RCV000560027;	N	MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34058174	34058174	G	A	21:g.34058174G>A	ClinGen:CA319447596	C4479313 617389 Epileptic encephalopathy, early infantile, 53;
NM_203446.3(SYNJ1):c.988A>T (p.Met330Leu)	8867	SYNJ1	Uncertain significance	-1	RCV001365865;	N	MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934	21	34058188	34058188	T	A	34058188	-
NM_203446.3(SYNJ1):c.981T>C (p.Asp327=)	8867	SYNJ1	Likely benign	-1	RCV001408810;	N	MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934	21	34058195	34058195	A	G	34058195	-
NM_203446.3(SYNJ1):c.969A>G (p.Glu323=)	8867	SYNJ1	Likely benign	rs1601418926	RCV000944205\|RCV001476495;	N	MedGen:CN517202\|MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934	21	34058207	34058207	T	C	21:g.34058207T>C	-
NM_203446.3(SYNJ1):c.952C>A (p.His318Asn)	8867	SYNJ1	Uncertain significance	rs2041822657	RCV001351416;	N	MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934	21	34058224	34058224	G	T	34058224	-
NM_203446.3(SYNJ1):c.949-31_949-2del	8867	SYNJ1	Likely benign	rs1281313151	RCV000931704\|RCV001505970;	N	MedGen:CN517202\|MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34058229	34058258	CTGAAAGTAAAAAGGCAAATATTCATCTAAA	C	21:g.34058229_34058258del	-
NM_203446.3(SYNJ1):c.948+7A>G	8867	SYNJ1	Likely benign	-1	RCV001392285;	N	MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934	21	34059281	34059281	T	C	34059281	-
NM_203446.3(SYNJ1):c.948G>C (p.Gln316His)	8867	SYNJ1	Uncertain significance	rs1569093889	RCV001307078;	N	MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34059288	34059288	C	G	34059288	-
NM_203446.3(SYNJ1):c.930G>A (p.Met310Ile)	8867	SYNJ1	Uncertain significance	rs749045961	RCV000697724;	N	MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934	21	34059306	34059306	C	T	21:g.34059306C>T	-	C4479313 617389 Epileptic encephalopathy, early infantile, 53;
NM_203446.3(SYNJ1):c.909A>G (p.Gly303=)	8867	SYNJ1	Likely benign	rs145522240	RCV000542163\|RCV001726247;	N	MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411\|MedGen:CN517202	21	34059327	34059327	T	C	21:g.34059327T>C	ClinGen:CA10004004	C4479313 617389 Epileptic encephalopathy, early infantile, 53;
NM_203446.3(SYNJ1):c.889A>G (p.Ile297Val)	8867	SYNJ1	Uncertain significance	rs775110785	RCV001242296;	N	MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934	21	34059347	34059347	T	C	21:g.34059347T>C	-
NM_203446.3(SYNJ1):c.887A>G (p.Gln296Arg)	8867	SYNJ1	Uncertain significance	rs2041858912	RCV001341052;	N	MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34059349	34059349	T	C	34059349	-
NM_203446.3(SYNJ1):c.884A>G (p.Lys295Arg)	8867	SYNJ1	Benign	rs2254562	RCV000713723\|RCV001522161\|RCV001579568;	N	MedGen:CN517202\|MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934\|MedGen:CN169374	21	34059352	34059352	T	C	21:g.34059352T>C	-
NM_203446.3(SYNJ1):c.883A>C (p.Lys295Gln)	8867	SYNJ1	Likely benign	rs554456240	RCV000878467;	N	MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34059353	34059353	T	G	21:g.34059353T>G	-
NM_203446.3(SYNJ1):c.873C>T (p.Asn291=)	8867	SYNJ1	Likely benign	-1	RCV001493113;	N	MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34059363	34059363	G	A	34059363	-
NM_203446.3(SYNJ1):c.862A>C (p.Thr288Pro)	8867	SYNJ1	Uncertain significance	rs571120951	RCV001205807;	N	MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934	21	34059374	34059374	T	G	21:g.34059374T>G	-
NM_203446.3(SYNJ1):c.856T>C (p.Phe286Leu)	8867	SYNJ1	Uncertain significance	-1	RCV001361350;	N	MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934	21	34059380	34059380	A	G	34059380	-
NM_203446.3(SYNJ1):c.851+10T>C	8867	SYNJ1	Likely benign	-1	RCV001427938;	N	MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934	21	34060606	34060606	A	G	34060606	-
NM_203446.3(SYNJ1):c.851G>A (p.Arg284Lys)	8867	SYNJ1	Conflicting interpretations of pathogenicity	rs565013600	RCV000624913\|RCV000997825\|RCV001489751;	N	MeSH:D030342,MedGen:C0950123\|MedGen:CN517202\|MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34060616	34060616	C	T	21:g.34060616C>T	ClinGen:CA10004028	C0950123 Inborn genetic diseases;
NM_203446.3(SYNJ1):c.843T>C (p.Ala281=)	8867	SYNJ1	Likely benign	rs372016074	RCV000534789;	N	MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34060624	34060624	A	G	21:g.34060624A>G	ClinGen:CA10004029	C4479313 617389 Epileptic encephalopathy, early infantile, 53;
NM_203446.3(SYNJ1):c.842C>G (p.Ala281Gly)	8867	SYNJ1	Uncertain significance	rs1046699971	RCV000527006;	N	MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34060625	34060625	G	C	21:g.34060625G>C	ClinGen:CA410094159	C4479313 617389 Epileptic encephalopathy, early infantile, 53;
NM_203446.3(SYNJ1):c.842C>T (p.Ala281Val)	8867	SYNJ1	Uncertain significance	rs1046699971	RCV001298658;	N	MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934	21	34060625	34060625	G	A	34060625	-
NM_203446.3(SYNJ1):c.841G>C (p.Ala281Pro)	8867	SYNJ1	Uncertain significance	rs2041902084	RCV001235058;	N	MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34060626	34060626	C	G	21:g.34060626C>G	-
NM_203446.3(SYNJ1):c.831C>T (p.Ala277=)	8867	SYNJ1	Likely benign	rs148732160	RCV000904198;	N	MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34060636	34060636	G	A	21:g.34060636G>A	-
NM_203446.3(SYNJ1):c.809G>A (p.Arg270His)	8867	SYNJ1	Uncertain significance	rs532075408	RCV000655750;	N	MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34060658	34060658	C	T	21:g.34060658C>T	ClinGen:CA10004035
NM_203446.3(SYNJ1):c.809G>T (p.Arg270Leu)	8867	SYNJ1	Uncertain significance	rs532075408	RCV001297019;	N	MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934	21	34060658	34060658	C	A	34060658	-
NM_203446.3(SYNJ1):c.808C>T (p.Arg270Cys)	8867	SYNJ1	Uncertain significance	rs547450707	RCV000550869;	N	MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34060659	34060659	G	A	21:g.34060659G>A	ClinGen:CA10004036	C4479313 617389 Epileptic encephalopathy, early infantile, 53;
NM_203446.3(SYNJ1):c.803G>A (p.Arg268His)	8867	SYNJ1	Uncertain significance	rs201796096	RCV000699530\|RCV001197963;	N	MONDO: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:1934	21	34060664	34060664	C	T	21:g.34060664C>T	-	C4479313 617389 Epileptic encephalopathy, early infantile, 53;
NM_203446.3(SYNJ1):c.790-6T>G	8867	SYNJ1	Uncertain significance	rs2041904445	RCV001214753;	N	MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934	21	34060683	34060683	A	C	21:g.34060683A>C	-
NM_203446.3(SYNJ1):c.789+8_789+11del	8867	SYNJ1	Likely benign	rs751922511	RCV000900088;	N	MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34066527	34066530	TCAAA	T	21:g.34066527_34066530del	-
NM_203446.3(SYNJ1):c.789+10T>C	8867	SYNJ1	Likely benign	rs1601446146	RCV000919905\|RCV001446175;	N	MedGen:CN517202\|MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34066528	34066528	A	G	21:g.34066528A>G	-
NM_203446.3(SYNJ1):c.789+1G>A	8867	SYNJ1	Likely pathogenic	rs2042124608	RCV001236322;	N	MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34066537	34066537	C	T	21:g.34066537C>T	-
NM_203446.3(SYNJ1):c.768C>G (p.Phe256Leu)	8867	SYNJ1	Uncertain significance	rs1456955061	RCV000822274;	N	MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34066559	34066559	G	C	21:g.34066559G>C	-
NM_203446.3(SYNJ1):c.762A>G (p.Pro254=)	8867	SYNJ1	Likely benign	-1	RCV001431681;	N	MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34066565	34066565	T	C	34066565	-
NM_203446.3(SYNJ1):c.749G>A (p.Arg250Gln)	8867	SYNJ1	Uncertain significance	rs762909719	RCV001208004;	N	MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934	21	34066578	34066578	C	T	21:g.34066578C>T	-
NM_203446.3(SYNJ1):c.747C>T (p.Ile249=)	8867	SYNJ1	Likely benign	-1	RCV001433808;	N	MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34066580	34066580	G	A	34066580	-
NM_203446.3(SYNJ1):c.741A>G (p.Ile247Met)	8867	SYNJ1	Uncertain significance	-1	RCV001366829;	N	MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934	21	34066586	34066586	T	C	34066586	-
NM_203446.3(SYNJ1):c.711G>A (p.Val237=)	8867	SYNJ1	Likely benign	-1	RCV001500249;	N	MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34066616	34066616	C	T	34066616	-
NM_203446.3(SYNJ1):c.706-15dup	8867	SYNJ1	Benign	rs202044634	RCV000655779;	N	MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34066627	34066628	G	GA	21:g.34066627_34066628insA	ClinGen:CA10004067	C4479313 617389 Epileptic encephalopathy, early infantile, 53;
NM_203446.3(SYNJ1):c.706-7del	8867	SYNJ1	Benign	rs202044634	RCV000976426;	N	MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934	21	34066628	34066628	GA	G	21:g.34066628_34066628del	-
NM_203446.3(SYNJ1):c.706-8T>C	8867	SYNJ1	Likely benign	rs752261171	RCV000943662\|RCV001450759;	N	MedGen:CN517202\|MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34066629	34066629	A	G	21:g.34066629A>G	-
NM_203446.3(SYNJ1):c.705+9A>G	8867	SYNJ1	Likely benign	-1	RCV001505210;	N	MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34067358	34067358	T	C	34067358	-
NM_203446.3(SYNJ1):c.705+7A>G	8867	SYNJ1	Benign	rs187016397	RCV000713737\|RCV001082091;	N	MedGen:CN517202\|MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34067360	34067360	T	C	21:g.34067360T>C	ClinGen:CA10004091	C4479313 617389 Epileptic encephalopathy, early infantile, 53;
NM_203446.3(SYNJ1):c.656G>A (p.Arg219Gln)	8867	SYNJ1	Pathogenic	rs398122403	RCV000074432;	N	MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34067416	34067416	C	T	21:g.34067416C>T	ClinGen:CA145358,OMIM:604297.0001	C3809824 615530 Parkinson disease 20, early-onset;
NM_203446.3(SYNJ1):c.630A>T (p.Glu210Asp)	8867	SYNJ1	Uncertain significance	rs1377390036	RCV000690772;	N	MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934	21	34067442	34067442	T	A	21:g.34067442T>A	-	C4479313 617389 Epileptic encephalopathy, early infantile, 53;
NM_203446.3(SYNJ1):c.622A>G (p.Ser208Gly)	8867	SYNJ1	Uncertain significance	rs1601449471	RCV000801143;	N	MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934	21	34067450	34067450	T	C	21:g.34067450T>C	-
NM_203446.3(SYNJ1):c.601G>T (p.Ala201Ser)	8867	SYNJ1	Uncertain significance	rs371958110	RCV001322458;	N	MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34067471	34067471	C	A	34067471	-
NM_203446.3(SYNJ1):c.597G>A (p.Ala199=)	8867	SYNJ1	Likely benign	-1	RCV001499264;	N	MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34067475	34067475	C	T	34067475	-
NM_203446.3(SYNJ1):c.592C>A (p.Gln198Lys)	8867	SYNJ1	Uncertain significance	rs771210989	RCV001209987;	N	MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934	21	34067480	34067480	G	T	21:g.34067480G>T	-
NM_203446.3(SYNJ1):c.583G>A (p.Ala195Thr)	8867	SYNJ1	Uncertain significance	rs774367309	RCV000808944;	N	MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934	21	34067489	34067489	C	T	21:g.34067489C>T	-
NM_203446.3(SYNJ1):c.577T>C (p.Tyr193His)	8867	SYNJ1	Uncertain significance	rs2042158818	RCV001281694;	N	MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34067495	34067495	A	G	34067495	-
NM_203446.3(SYNJ1):c.574A>G (p.Ile192Val)	8867	SYNJ1	Uncertain significance	rs2042159051	RCV001318324;	N	MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34067498	34067498	T	C	34067498	-
NM_203446.3(SYNJ1):c.573A>G (p.Thr191=)	8867	SYNJ1	Benign/Likely benign	rs61756694	RCV000713736\|RCV001081845;	N	MedGen:CN517202\|MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34067499	34067499	T	C	21:g.34067499T>C	ClinGen:CA10004106
NM_203446.3(SYNJ1):c.564A>C (p.Glu188Asp)	8867	SYNJ1	Uncertain significance	rs1423467857	RCV001049838;	N	MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34067508	34067508	T	G	21:g.34067508T>G	-
NM_203446.3(SYNJ1):c.559G>A (p.Val187Ile)	8867	SYNJ1	Uncertain significance	-1	RCV001360141;	N	MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934	21	34067513	34067513	C	T	34067513	-
NM_203446.3(SYNJ1):c.550T>A (p.Cys184Ser)	8867	SYNJ1	Uncertain significance	rs903887015	RCV001229562;	N	MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34067522	34067522	A	T	21:g.34067522A>T	-
NM_203446.3(SYNJ1):c.549G>T (p.Met183Ile)	8867	SYNJ1	Uncertain significance	rs760573856	RCV001295049;	N	MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934	21	34067523	34067523	C	A	34067523	-
NM_203446.3(SYNJ1):c.549G>A (p.Met183Ile)	8867	SYNJ1	Uncertain significance	rs760573856	RCV001315720;	N	MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34067523	34067523	C	T	34067523	-
NM_203446.3(SYNJ1):c.542G>A (p.Arg181His)	8867	SYNJ1	Uncertain significance	rs763977309	RCV001244430;	N	MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934	21	34067530	34067530	C	T	21:g.34067530C>T	-
NM_203446.3(SYNJ1):c.528T>A (p.Asp176Glu)	8867	SYNJ1	Uncertain significance	rs1277503442	RCV001315426;	N	MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34067544	34067544	A	T	34067544	-
NM_203446.3(SYNJ1):c.517G>A (p.Val173Met)	8867	SYNJ1	Uncertain significance	rs756663722	RCV001302794;	N	MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934	21	34067555	34067555	C	T	34067555	-
NM_203446.3(SYNJ1):c.479+9A>G	8867	SYNJ1	Benign	rs76502784	RCV000545547\|RCV000713735;	N	MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411\|MedGen:CN517202	21	34072139	34072139	T	C	21:g.34072139T>C	ClinGen:CA10004128
NM_203446.3(SYNJ1):c.470G>C (p.Arg157Thr)	8867	SYNJ1	Uncertain significance	rs375831365	RCV000707208;	N	MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934	21	34072157	34072157	C	G	21:g.34072157C>G	-
NM_203446.3(SYNJ1):c.462T>A (p.Thr154=)	8867	SYNJ1	Likely benign	-1	RCV001505237;	N	MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34072165	34072165	A	T	34072165	-
NM_203446.3(SYNJ1):c.455A>G (p.Gln152Arg)	8867	SYNJ1	Uncertain significance	-1	RCV001370362;	N	MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34072172	34072172	T	C	34072172	-
NM_203446.3(SYNJ1):c.443G>A (p.Ser148Asn)	8867	SYNJ1	Uncertain significance	rs2042337641	RCV001223144;	N	MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934	21	34072184	34072184	C	T	21:g.34072184C>T	-
NM_203446.3(SYNJ1):c.440G>A (p.Arg147His)	8867	SYNJ1	Uncertain significance	rs749741780	RCV001313317;	N	MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34072187	34072187	C	T	34072187	-
NM_203446.3(SYNJ1):c.437A>G (p.His146Arg)	8867	SYNJ1	Uncertain significance	rs2042338087	RCV001319551;	N	MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34072190	34072190	T	C	34072190	-
NM_203446.3(SYNJ1):c.435G>A (p.Ala145=)	8867	SYNJ1	Likely benign	-1	RCV001481465;	N	MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34072192	34072192	C	T	34072192	-
NM_203446.3(SYNJ1):c.434C>T (p.Ala145Val)	8867	SYNJ1	Uncertain significance	rs111886678	RCV001214796;	N	MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934	21	34072193	34072193	G	A	21:g.34072193G>A	-
NM_203446.3(SYNJ1):c.421T>C (p.Leu141=)	8867	SYNJ1	Likely benign	rs140461566	RCV000537465;	N	MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34072206	34072206	A	G	21:g.34072206A>G	ClinGen:CA10004143	C4479313 617389 Epileptic encephalopathy, early infantile, 53;
NM_203446.3(SYNJ1):c.407G>A (p.Gly136Asp)	8867	SYNJ1	Uncertain significance	rs771507886	RCV001068914;	N	MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934	21	34072220	34072220	C	T	21:g.34072220C>T	-
NM_203446.3(SYNJ1):c.395G>A (p.Trp132Ter)	8867	SYNJ1	Pathogenic	rs1555907463	RCV000664071;	N	MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34072232	34072232	C	T	21:g.34072232C>T	-
NM_203446.3(SYNJ1):c.359G>A (p.Arg120Gln)	8867	SYNJ1	Uncertain significance	rs768435291	RCV001327132\|RCV001773654;	N	MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411\|MedGen:CN517202	21	34072268	34072268	C	T	34072268	-
NM_203446.3(SYNJ1):c.356T>C (p.Val119Ala)	8867	SYNJ1	Uncertain significance	rs2042341669	RCV001065451;	N	MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934	21	34072271	34072271	A	G	21:g.34072271A>G	-
NM_203446.3(SYNJ1):c.344G>T (p.Arg115Leu)	8867	SYNJ1	Uncertain significance	rs951976946	RCV001205777;	N	MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934	21	34072283	34072283	C	A	21:g.34072283C>A	-
NM_203446.3(SYNJ1):c.344G>A (p.Arg115His)	8867	SYNJ1	Uncertain significance	rs951976946	RCV001300626;	N	MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934	21	34072283	34072283	C	T	34072283	-
NM_203446.3(SYNJ1):c.326A>T (p.Asp109Val)	8867	SYNJ1	Uncertain significance	rs764528223	RCV000796372;	N	MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934	21	34072301	34072301	T	A	21:g.34072301T>A	-
NM_203446.3(SYNJ1):c.324C>T (p.Ile108=)	8867	SYNJ1	Likely benign	rs551070196	RCV000904515\|RCV001463521;	N	MedGen:CN517202\|MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34072303	34072303	G	A	21:g.34072303G>A	-
NM_203446.3(SYNJ1):c.311T>C (p.Ile104Thr)	8867	SYNJ1	Uncertain significance	rs779426150	RCV000655748;	N	MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34072316	34072316	A	G	21:g.34072316A>G	ClinGen:CA10004158
NM_203446.3(SYNJ1):c.303T>C (p.Thr101=)	8867	SYNJ1	Likely benign	-1	RCV001439965;	N	MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34072324	34072324	A	G	34072324	-
NM_203446.3(SYNJ1):c.254T>A (p.Met85Lys)	8867	SYNJ1	Uncertain significance	rs2042345500	RCV001041336;	N	MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934	21	34072373	34072373	A	T	21:g.34072373A>T	-
NM_203446.3(SYNJ1):c.244A>T (p.Thr82Ser)	8867	SYNJ1	Uncertain significance	rs2042346087	RCV001069394;	N	MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934	21	34072383	34072383	T	A	21:g.34072383T>A	-
NM_203446.3(SYNJ1):c.225A>C (p.Leu75Phe)	8867	SYNJ1	Uncertain significance	rs2042346717	RCV001308259;	N	MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34072402	34072402	T	G	34072402	-
NM_203446.3(SYNJ1):c.220A>G (p.Met74Val)	8867	SYNJ1	Uncertain significance	rs762562029	RCV001056698;	N	MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34072407	34072407	T	C	21:g.34072407T>C	-
NM_203446.3(SYNJ1):c.212G>A (p.Gly71Asp)	8867	SYNJ1	Uncertain significance	rs1438911029	RCV001056802;	N	MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34072415	34072415	C	T	21:g.34072415C>T	-
NM_203446.3(SYNJ1):c.211G>C (p.Gly71Arg)	8867	SYNJ1	Uncertain significance	rs1569113660	RCV000685571;	N	MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34074271	34074271	C	G	21:g.34074271C>G	-	C4479313 617389 Epileptic encephalopathy, early infantile, 53;
NM_203446.3(SYNJ1):c.200G>A (p.Arg67Gln)	8867	SYNJ1	Uncertain significance	rs969446324	RCV000803592;	N	MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934	21	34074282	34074282	C	T	21:g.34074282C>T	-
NM_203446.3(SYNJ1):c.199C>T (p.Arg67Trp)	8867	SYNJ1	Uncertain significance	rs372488661	RCV000655745;	N	MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34074283	34074283	G	A	21:g.34074283G>A	ClinGen:CA10004185	C4479313 617389 Epileptic encephalopathy, early infantile, 53;
NM_203446.3(SYNJ1):c.193G>A (p.Val65Ile)	8867	SYNJ1	Uncertain significance	-1	RCV001363699;	N	MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934	21	34074289	34074289	C	T	34074289	-
NM_203446.3(SYNJ1):c.177A>G (p.Ala59=)	8867	SYNJ1	Uncertain significance	rs749212329	RCV000822850;	N	MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934	21	34074305	34074305	T	C	21:g.34074305T>C	-
NM_203446.3(SYNJ1):c.165A>G (p.Lys55=)	8867	SYNJ1	Likely benign	rs141138675	RCV000655778;	N	MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34074317	34074317	T	C	21:g.34074317T>C	ClinGen:CA10004189
NM_203446.3(SYNJ1):c.162C>T (p.Ser54=)	8867	SYNJ1	Likely benign	-1	RCV001408445;	N	MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934	21	34074320	34074320	G	A	34074320	-
NM_203446.3(SYNJ1):c.161C>T (p.Ser54Phe)	8867	SYNJ1	Uncertain significance	rs2042421673	RCV001340179;	N	MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34074321	34074321	G	A	34074321	-
NM_203446.3(SYNJ1):c.156A>G (p.Thr52=)	8867	SYNJ1	Uncertain significance	rs144728528	RCV001307009;	N	MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34074326	34074326	T	C	34074326	-
NM_203446.3(SYNJ1):c.150G>A (p.Lys50=)	8867	SYNJ1	Likely benign	-1	RCV001491432;	N	MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34074332	34074332	C	T	34074332	-
NM_203446.3(SYNJ1):c.133G>A (p.Glu45Lys)	8867	SYNJ1	Uncertain significance	rs2042422640	RCV001054657;	N	MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34074349	34074349	C	T	21:g.34074349C>T	-
NM_203446.3(SYNJ1):c.126A>T (p.Ser42=)	8867	SYNJ1	Likely benign	rs1286622528	RCV000919920\|RCV001471072;	N	MedGen:CN517202\|MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34074356	34074356	T	A	21:g.34074356T>A	-
NM_203446.3(SYNJ1):c.125-6_125-5del	8867	SYNJ1	Benign	-1	RCV001512107;	N	MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934	21	34074362	34074363	CAA	C	34074361	-
NM_203446.3(SYNJ1):c.121C>T (p.Leu41Phe)	8867	SYNJ1	Uncertain significance	-1	RCV001372622;	N	MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34099086	34099086	G	A	34099086	-
NM_203446.3(SYNJ1):c.96G>A (p.Met32Ile)	8867	SYNJ1	Uncertain significance	rs770096593	RCV001338151;	N	MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34099111	34099111	C	T	34099111	-
NM_203446.3(SYNJ1):c.93C>G (p.Leu31=)	8867	SYNJ1	Likely benign	rs201322530	RCV000655780;	N	MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34099114	34099114	G	C	21:g.34099114G>C	ClinGen:CA10004216
NM_203446.3(SYNJ1):c.83A>C (p.Glu28Ala)	8867	SYNJ1	Uncertain significance	rs199750187	RCV001067909;	N	MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934	21	34099124	34099124	T	G	21:g.34099124T>G	-
NM_203446.3(SYNJ1):c.53T>A (p.Phe18Tyr)	8867	SYNJ1	Uncertain significance	rs2043478146	RCV001214172;	N	MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934	21	34099154	34099154	A	T	21:g.34099154A>T	-
NM_203446.3(SYNJ1):c.46C>T (p.Pro16Ser)	8867	SYNJ1	Uncertain significance	rs1487423508	RCV001295254;	N	MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934	21	34099161	34099161	G	A	34099161	-
NM_203446.3(SYNJ1):c.43C>T (p.Pro15Ser)	8867	SYNJ1	Benign/Likely benign	rs61755328	RCV000513799\|RCV001086261;	N	MedGen:CN517202\|MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934	21	34099164	34099164	G	A	21:g.34099164G>A	ClinGen:CA10004225	C4479313 617389 Epileptic encephalopathy, early infantile, 53;
NM_203446.3(SYNJ1):c.41A>G (p.Asp14Gly)	8867	SYNJ1	Uncertain significance	rs565807712	RCV000691330;	N	MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934	21	34099166	34099166	T	C	21:g.34099166T>C	-
NM_203446.3(SYNJ1):c.38T>C (p.Leu13Ser)	8867	SYNJ1	Conflicting interpretations of pathogenicity	-1	RCV001448730\|RCV001751768;	N	MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411\|MedGen:CN517202	21	34099169	34099169	A	G	34099169	-
NM_203446.3(SYNJ1):c.35A>G (p.Lys12Arg)	8867	SYNJ1	Uncertain significance	rs2043479501	RCV001232604;	N	MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34099172	34099172	T	C	21:g.34099172T>C	-
NM_203446.3(SYNJ1):c.33C>G (p.His11Gln)	8867	SYNJ1	Uncertain significance	rs750372776	RCV001210340;	N	MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934	21	34099174	34099174	G	C	21:g.34099174G>C	-
NM_203446.3(SYNJ1):c.29A>G (p.Tyr10Cys)	8867	SYNJ1	Uncertain significance	rs967674859	RCV001051813;	N	MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34099178	34099178	T	C	21:g.34099178T>C	-
NM_203446.3(SYNJ1):c.25A>G (p.Ile9Val)	8867	SYNJ1	Uncertain significance	rs757895747	RCV000693334;	N	MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934	21	34099182	34099182	T	C	21:g.34099182T>C	-	C4479313 617389 Epileptic encephalopathy, early infantile, 53;
NM_203446.3(SYNJ1):c.20T>A (p.Phe7Tyr)	8867	SYNJ1	Uncertain significance	rs748690832	RCV000691317\|RCV001093461;	N	MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934\|MedGen:CN517202	21	34099187	34099187	A	T	21:g.34099187A>T	-
NM_203446.3(SYNJ1):c.6G>A (p.Ala2=)	8867	SYNJ1	Benign/Likely benign	rs61750221	RCV000713724\|RCV001086325;	N	MedGen:CN517202\|MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34099201	34099201	C	T	21:g.34099201C>T	ClinGen:CA10004232
NM_203446.3(SYNJ1):c.4G>A (p.Ala2Thr)	8867	SYNJ1	Uncertain significance	rs2043481026	RCV001312720;	N	MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34099203	34099203	C	T	34099203	-
NM_203446.3(SYNJ1):c.-22-4G>A	8867	SYNJ1	Likely benign	-1	RCV001441880;	N	MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34099232	34099232	C	T	34099232	-
NM_203446.3(SYNJ1):c.-22-10G>A	8867	SYNJ1	Likely benign	-1	RCV001460063;	N	MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34099238	34099238	C	T	34099238	-
NC_000021.9:g.(?_32727926)_(32728060_?)del	8867	SYNJ1	Pathogenic	-1	RCV001033697;	N	MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934	21	34100237	34100371	na	na	-1	-
NM_203446.3(SYNJ1):c.-23+3G>A	8867	SYNJ1	Uncertain significance	-1	RCV001369051;	N	MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934	21	34100254	34100254	C	T	34100254	-
NM_203446.3(SYNJ1):c.-23G>A	8867	SYNJ1	Uncertain significance	rs1195858283	RCV001324406;	N	MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34100257	34100257	C	T	34100257	-
NM_203446.3(SYNJ1):c.-23G>C	8867	SYNJ1	Uncertain significance	rs1195858283	RCV001340744;	N	MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34100257	34100257	C	G	34100257	-
NM_203446.3(SYNJ1):c.-25G>A	8867	SYNJ1	Likely benign	-1	RCV001435562;	N	MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34100259	34100259	C	T	34100259	-
NM_203446.3(SYNJ1):c.-29G>A	8867	SYNJ1	Uncertain significance	rs2043550944	RCV001223324;	N	MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934	21	34100263	34100263	C	T	21:g.34100263C>T	-
NM_203446.3(SYNJ1):c.-30A>G	8867	SYNJ1	Uncertain significance	rs2043551030	RCV001319170;	N	MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34100264	34100264	T	C	34100264	-
NM_203446.3(SYNJ1):c.-31G>C	8867	SYNJ1	Likely benign	rs751083536	RCV000944985;	N	MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934	21	34100265	34100265	C	G	21:g.34100265C>G	-
NM_203446.3(SYNJ1):c.-34C>T	8867	SYNJ1	Likely benign	-1	RCV001431832;	N	MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34100268	34100268	G	A	34100268	-
NM_203446.3(SYNJ1):c.-42A>G	8867	SYNJ1	Uncertain significance	rs988950141	RCV000655743;	N	MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34100276	34100276	T	C	21:g.34100276T>C	ClinGen:CA319437508
NM_203446.3(SYNJ1):c.-43G>C	8867	SYNJ1	Uncertain significance	rs2043552321	RCV001313711;	N	MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34100277	34100277	C	G	34100277	-
NM_203446.3(SYNJ1):c.-47G>C	8867	SYNJ1	Uncertain significance	rs1018405878	RCV001038796;	N	MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934	21	34100281	34100281	C	G	21:g.34100281C>G	-
NM_203446.3(SYNJ1):c.-49A>G	8867	SYNJ1	Likely benign	rs780877494	RCV000944167\|RCV001493136;	N	MedGen:CN517202\|MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934	21	34100283	34100283	T	C	21:g.34100283T>C	-
NM_203446.3(SYNJ1):c.-64_-53dup	8867	SYNJ1	Uncertain significance	rs1427487040	RCV001213193;	N	MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934	21	34100286	34100287	C	CCCGCAGCCGCCG	21:g.34100286_34100287insCCGCAGCCGCCG	-
NM_203446.3(SYNJ1):c.-56_-55delinsAT	8867	SYNJ1	Uncertain significance	rs2043553723	RCV001315357;	N	MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34100289	34100290	GC	AT	34100289	-
NM_203446.3(SYNJ1):c.-67_-56del	8867	SYNJ1	Uncertain significance	rs1035093736	RCV000655768;	N	MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34100290	34100301	GCAGCCGCCGCCA	G	21:g.34100290_34100301del	ClinGen:CA319437559	C4479313 617389 Epileptic encephalopathy, early infantile, 53;
NM_203446.3(SYNJ1):c.-56G>T	8867	SYNJ1	Uncertain significance	rs1486511197	RCV001235589;	N	MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34100290	34100290	C	A	21:g.34100290C>A	-
NM_203446.3(SYNJ1):c.-57T>G	8867	SYNJ1	Uncertain significance	rs921606190	RCV001294298\|RCV001333170;	N	MONDO: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:1934	21	34100291	34100291	A	C	34100291	-
NM_203446.3(SYNJ1):c.-60G>T	8867	SYNJ1	Uncertain significance	rs535611172	RCV001215745;	N	MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934	21	34100294	34100294	C	A	21:g.34100294C>A	-
NM_203446.3(SYNJ1):c.-61C>T	8867	SYNJ1	Likely benign	-1	RCV001398103;	N	MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934	21	34100295	34100295	G	A	34100295	-
NM_203446.3(SYNJ1):c.-63G>A	8867	SYNJ1	Uncertain significance	rs779276328	RCV001226518;	N	MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34100297	34100297	C	T	21:g.34100297C>T	-
NM_203446.3(SYNJ1):c.-64C>T	8867	SYNJ1	Likely benign	-1	RCV001470612;	N	MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34100298	34100298	G	A	34100298	-
NM_203446.3(SYNJ1):c.-68G>A	8867	SYNJ1	Uncertain significance	rs746182035	RCV001036356;	N	MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934	21	34100302	34100302	C	T	21:g.34100302C>T	-
NM_203446.3(SYNJ1):c.-75G>A	8867	SYNJ1	Uncertain significance	rs2043555401	RCV001231723;	N	MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34100309	34100309	C	T	21:g.34100309C>T	-
NM_203446.3(SYNJ1):c.-81G>T	8867	SYNJ1	Uncertain significance	rs907760868	RCV001057464;	N	MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34100315	34100315	C	A	21:g.34100315C>A	-
NM_203446.3(SYNJ1):c.-83A>G	8867	SYNJ1	Uncertain significance	rs775805673	RCV001345727;	N	MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34100317	34100317	T	C	34100317	-
NM_203446.3(SYNJ1):c.-86G>A	8867	SYNJ1	Uncertain significance	rs768854034	RCV000800995;	N	MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934	21	34100320	34100320	C	T	21:g.34100320C>T	-
NM_203446.3(SYNJ1):c.-89G>T	8867	SYNJ1	Uncertain significance	rs1339841336	RCV001224480;	N	MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934	21	34100323	34100323	C	A	21:g.34100323C>A	-
NM_003895.3(SYNJ1):c.24G>A (p.Trp8Ter)	8867	SYNJ1	Pathogenic	rs1569147057	RCV000697507;	N	MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934	21	34100328	34100328	C	T	21:g.34100328C>T	-	C4479313 617389 Epileptic encephalopathy, early infantile, 53;
NM_003895.3(SYNJ1):c.12_13dup (p.Trp5fs)	8867	SYNJ1	Pathogenic	-1	RCV001381958;	N	MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34100338	34100339	C	CAT	34100338	-
NM_003895.3(SYNJ1):c.13T>C (p.Trp5Arg)	8867	SYNJ1	Uncertain significance	rs1255271636	RCV001308342;	N	MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34100339	34100339	A	G	34100339	-
NM_003895.3(SYNJ1):c.9G>A (p.Lys3=)	8867	SYNJ1	Likely benign	-1	RCV001469293;	N	MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411	21	34100343	34100343	C	T	34100343	-
NM_003895.3(SYNJ1):c.7A>C (p.Lys3Gln)	8867	SYNJ1	Uncertain significance	rs1037328706	RCV000807790;	N	MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389, Orphanet:1934	21	34100345	34100345	T	G	21:g.34100345T>G	-

MSeqDR Portal

Feedback about the webpages , or email to MSeqDR webmaster: Lishuang Shen