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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: Genetic Diseases, Inborn (D030342)
Parent Node: Neuromuscular Junction Diseases (D020511)
..Starting node ..Myasthenic Syndromes, Congenital (D020294)
Child Nodes:
........Congenital myasthenic syndrome ib (C536089)
........Endplate Acetylcholinesterase Deficiency (C566415)
........Myasthenia, Congenital, Refractory to Acetylcholinesterase Inhibitors (C564979)
........Myasthenia, Familial Infantile, 1 (C565289)
........Myasthenia, Limb-Girdle, Autoimmune (C563552)
........Myasthenia, Limb-Girdle, with Tubular Aggregates (C566434)
........Myasthenic Syndrome due to Mutation in SCN4A (C565830)
........Myasthenic Syndrome, Congenital, Associated with Facial Dysmorphism (C563830)
........Myasthenic Syndrome, Congenital, Fast-Channel (C563832)
........Myasthenic Syndrome, Congenital, Ie (C563831)
........Myasthenic syndrome, congenital, postsynaptic slow-channel (C536091)
........Myasthenic syndrome, congenital, type Id (C536090)
........Myasthenic Syndrome, Congenital, with Facial Dysmorphism, associated with Acetylcholine Receptor Deficiency (C563829)
........Myopathy, Congenital, Compton-North (C567261)
Sister Nodes:
..Botulism (D001906)
..Lambert-Eaton Myasthenic Syndrome (D015624)
..Myasthenia Gravis (D009157) 5
..Myasthenic Syndromes, Congenital (D020294) 15
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:

8391

Name:

Myasthenic Syndromes, Congenital

Definition:

A heterogeneous group of disorders characterized by a congenital defect in neuromuscular transmission at the NEUROMUSCULAR JUNCTION. This includes presynaptic, synaptic, and postsynaptic disorders (that are not of autoimmune origin). The majority of these diseases are caused by mutations of various subunits of the nicotinic acetylcholine receptor (RECEPTORS, NICOTINIC) on the postsynaptic surface of the junction. (From Arch Neurol 1999 Feb;56(2):163-7)

Alternative IDs:

ParentIDs:

MESH:D020511|MESH:D030342

TreeNumbers:

C10.668.758.800 |C16.320.590

Synonyms:

CMS12 |CMS13 |CMS14 |CMS15 |CMS16 |CMS17 |CMS18 |CMS19 |CMS20 |CMS21 |CMS22 |CMS2A |CMS3A |CMS7 |CMS8 |CMSPPD |CMSTA1 |CMSTA2 |CMSTA3 |CMSWTA |Congenital Myasthenia |Congenital Myasthenia Gravis |Congenital Myasthenic Syndrome |Congenital Myasthenic Syndromes |Congenital Myasth

Slim Mappings:

Genetic disease (inborn)|Nervous system disease

Reference:

MedGen: D020294
MeSH: D020294
OMIM: 610542;
MSeqDR :
Genes: AGRN; ALG14; DPAGT1; GFPT1; SCN4A; SYT2;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0003621	Juvenile onset
3	HP:0003388	Easy fatigability
4	HP:0003403	EMG: decremental response of compound muscle action potential to repetitive nerve stimulation
5	HP:0010628	Facial palsy
6	HP:0003473	Fatigable weakness
7	HP:0003391	Gowers sign
8	HP:0008180	Mildly elevated creatine phosphokinase
9	HP:0001270	Motor delay	HP:0040283
10	HP:0003394	Muscle cramps
11	HP:0000467	Neck muscle weakness
12	HP:0000597	Ophthalmoparesis NAMDC: Ophthalmoparesis
13	HP:0007126	Proximal amyotrophy
14	HP:0000508	Ptosis NAMDC: Ptosis
15	HP:0002515	Waddling gait

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_g	OtherIDs	Disease_ClinVar
NM_005245.4(FAT1):c.2600_2601del (p.Thr867fs)	2195	FAT1	Likely pathogenic	1579484850	RCV000991431;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	4	187628381	187628382	4:g.187628381_187628382del	-
NM_001244710.2(GFPT1):c.*6378G>A	2673	GFPT1	Uncertain significance	560039272	RCV001143062;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69546943	69546943	2:g.69546943C>T	-
NM_001244710.2(GFPT1):c.*6366T>C	2673	GFPT1	Benign	115964031	RCV000350102;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69546955	69546955	2:g.69546955A>G	ClinGen:CA10615966	CN239337 Congenital Myasthenic Syndrome, Recessive;
NM_001244710.2(GFPT1):c.*6284G>A	2673	GFPT1	Uncertain significance	533940046	RCV000374306;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69547037	69547037	2:g.69547037C>T	ClinGen:CA10613800	CN239337 Congenital Myasthenic Syndrome, Recessive;
NM_001244710.2(GFPT1):c.*6136C>T	2673	GFPT1	Uncertain significance	1670370978	RCV001138314;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69547185	69547185	2:g.69547185G>A	-
NM_001244710.2(GFPT1):c.*6126A>G	2673	GFPT1	Uncertain significance	886056229	RCV000282229;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69547195	69547195	2:g.69547195T>C	ClinGen:CA10615969	CN239337 Congenital Myasthenic Syndrome, Recessive;
NM_001244710.2(GFPT1):c.*6102T>G	2673	GFPT1	Uncertain significance	950984771	RCV001138315;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69547219	69547219	2:g.69547219A>C	-
NM_001244710.2(GFPT1):c.*6094C>T	2673	GFPT1	Benign	55888680	RCV000335332;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69547227	69547227	2:g.69547227G>A	ClinGen:CA10614274	CN239337 Congenital Myasthenic Syndrome, Recessive;
NM_001244710.2(GFPT1):c.*6085C>G	2673	GFPT1	Benign	7642	RCV000403310;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69547236	69547236	2:g.69547236G>C	ClinGen:CA10615711	CN239337 Congenital Myasthenic Syndrome, Recessive;
NM_001244710.2(GFPT1):c.*6039G>T	2673	GFPT1	Uncertain significance	1670373103	RCV001138729;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69547282	69547282	2:g.69547282C>A	-
NM_001244710.2(GFPT1):c.*6016C>T	2673	GFPT1	Uncertain significance	886056230	RCV000305019;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69547305	69547305	2:g.69547305G>A	ClinGen:CA10614275	CN239337 Congenital Myasthenic Syndrome, Recessive;
NM_001244710.2(GFPT1):c.*6003G>T	2673	GFPT1	Likely benign	143649075	RCV001138730;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69547318	69547318	2:g.69547318C>A	-
NM_001244710.2(GFPT1):c.*5884A>G	2673	GFPT1	Uncertain significance	1670375941	RCV001138731;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69547437	69547437	2:g.69547437T>C	-
NM_001244710.2(GFPT1):c.*5820C>T	2673	GFPT1	Uncertain significance	1670376889	RCV001138732;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69547501	69547501	2:g.69547501G>A	-
NM_001244710.2(GFPT1):c.*5800G>A	2673	GFPT1	Uncertain significance	1247018108	RCV001138733;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69547521	69547521	2:g.69547521C>T	-
NM_001244710.2(GFPT1):c.*5764A>G	2673	GFPT1	Uncertain significance	1670377831	RCV001138734;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69547557	69547557	2:g.69547557T>C	-
NM_001244710.2(GFPT1):c.*5713T>C	2673	GFPT1	Uncertain significance	1239125022	RCV001138735;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69547608	69547608	2:g.69547608A>G	-
NM_001244710.2(GFPT1):c.*5673C>T	2673	GFPT1	Uncertain significance	191479634	RCV000393328;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69547648	69547648	2:g.69547648G>A	ClinGen:CA10614276	CN239337 Congenital Myasthenic Syndrome, Recessive;
NM_001244710.2(GFPT1):c.*5514G>T	2673	GFPT1	Uncertain significance	886056232	RCV000303844;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69547807	69547807	2:g.69547807C>A	ClinGen:CA10615982	CN239337 Congenital Myasthenic Syndrome, Recessive;
NM_001244710.2(GFPT1):c.*5476C>T	2673	GFPT1	Uncertain significance	921980900	RCV001141316;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69547845	69547845	2:g.69547845G>A	-
NM_001244710.2(GFPT1):c.*5464A>G	2673	GFPT1	Uncertain significance	115361740	RCV001141317;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69547857	69547857	2:g.69547857T>C	-
NM_001244710.2(GFPT1):c.*5448A>G	2673	GFPT1	Uncertain significance	1051676273	RCV001141318;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69547873	69547873	2:g.69547873T>C	-
NM_001244710.2(GFPT1):c.*5437G>A	2673	GFPT1	Uncertain significance	1670383958	RCV001141319;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69547884	69547884	2:g.69547884C>T	-
NM_001244710.2(GFPT1):c.*5432G>A	2673	GFPT1	Uncertain significance	886056233	RCV000365453;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69547889	69547889	2:g.69547889C>T	ClinGen:CA10614280	CN239337 Congenital Myasthenic Syndrome, Recessive;
NM_001244710.2(GFPT1):c.*5390T>G	2673	GFPT1	Uncertain significance	940728850	RCV001141320;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69547931	69547931	2:g.69547931A>C	-
NM_001244710.2(GFPT1):c.*5353C>T	2673	GFPT1	Uncertain significance	575765484	RCV001143171;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69547968	69547968	2:g.69547968G>A	-
NM_001244710.2(GFPT1):c.*5325T>G	2673	GFPT1	Uncertain significance	867127128	RCV000363380;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69547996	69547996	2:g.69547996A>C	ClinGen:CA10613806	CN239337 Congenital Myasthenic Syndrome, Recessive;
NM_001244710.2(GFPT1):c.*5261G>C	2673	GFPT1	Uncertain significance	780713952	RCV000333187;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69548060	69548060	2:g.69548060C>G	ClinGen:CA10613808	CN239337 Congenital Myasthenic Syndrome, Recessive;
NM_001244710.2(GFPT1):c.*5004G>A	2673	GFPT1	Uncertain significance	560585699	RCV000274684;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69548317	69548317	NC_000002.11:g.69548317C>T	ClinGen:CA10615983	CN239337 Congenital Myasthenic Syndrome, Recessive;
NM_001244710.2(GFPT1):c.*5001G>A	2673	GFPT1	Benign	13396883	RCV000318156;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69548320	69548320	NC_000002.11:g.69548320C>T	ClinGen:CA10615984	CN239337 Congenital Myasthenic Syndrome, Recessive;
NM_001244710.2(GFPT1):c.*4944A>G	2673	GFPT1	Likely benign	112572296	RCV000375126;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69548377	69548377	NC_000002.11:g.69548377T>C	ClinGen:CA10614285	CN239337 Congenital Myasthenic Syndrome, Recessive;
NM_001244710.2(GFPT1):c.*4830A>G	2673	GFPT1	Uncertain significance	1670399708	RCV001143172;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69548491	69548491	2:g.69548491T>C	-
NM_001244710.2(GFPT1):c.*4826A>C	2673	GFPT1	Benign	67016706	RCV000278890;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69548495	69548495	NC_000002.11:g.69548495T>G	ClinGen:CA10613816	CN239337 Congenital Myasthenic Syndrome, Recessive;
NM_001244710.2(GFPT1):c.*4761G>A	2673	GFPT1	Uncertain significance	886056236	RCV000336241;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69548560	69548560	NC_000002.11:g.69548560C>T	ClinGen:CA10614286	CN239337 Congenital Myasthenic Syndrome, Recessive;
NM_001244710.2(GFPT1):c.*4730G>A	2673	GFPT1	Benign	28694003	RCV000379130;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69548591	69548591	NC_000002.11:g.69548591C>T	ClinGen:CA10615715	CN239337 Congenital Myasthenic Syndrome, Recessive;
NM_001244710.2(GFPT1):c.*4724A>T	2673	GFPT1	Uncertain significance	189919589	RCV001136605;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69548597	69548597	2:g.69548597T>A	-
NM_001244710.2(GFPT1):c.*4650A>G	2673	GFPT1	Uncertain significance	886056237	RCV000287015;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69548671	69548671	NC_000002.11:g.69548671T>C	ClinGen:CA10613817	CN239337 Congenital Myasthenic Syndrome, Recessive;
NM_001244710.2(GFPT1):c.*4520G>C	2673	GFPT1	Uncertain significance	886056238	RCV000339586;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69548801	69548801	NC_000002.11:g.69548801C>G	ClinGen:CA10613818	CN239337 Congenital Myasthenic Syndrome, Recessive;
NM_001244710.2(GFPT1):c.*4403G>T	2673	GFPT1	Benign	148687340	RCV001136606;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69548918	69548918	2:g.69548918C>A	-
NM_001244710.2(GFPT1):c.*4375A>G	2673	GFPT1	Uncertain significance	1670408570	RCV001138845;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69548946	69548946	2:g.69548946T>C	-
NM_001244710.2(GFPT1):c.*4274A>T	2673	GFPT1	Likely benign	142243075	RCV000404595;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69549047	69549047	NC_000002.11:g.69549047T>A	ClinGen:CA10615985	CN239337 Congenital Myasthenic Syndrome, Recessive;
NM_001244710.2(GFPT1):c.*4259C>T	2673	GFPT1	Uncertain significance	186353485	RCV000309254;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69549062	69549062	NC_000002.11:g.69549062G>A	ClinGen:CA10615716	CN239337 Congenital Myasthenic Syndrome, Recessive;
NM_001244710.2(GFPT1):c.*4230C>T	2673	GFPT1	Uncertain significance	555260998	RCV001138846;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69549091	69549091	2:g.69549091G>A	-
NM_001244710.2(GFPT1):c.*4229A>T	2673	GFPT1	Uncertain significance	190736026	RCV000347760;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69549092	69549092	NC_000002.11:g.69549092T>A	ClinGen:CA10615719	CN239337 Congenital Myasthenic Syndrome, Recessive;
NM_001244710.2(GFPT1):c.*4121A>G	2673	GFPT1	Uncertain significance	560298974	RCV001138847;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69549200	69549200	2:g.69549200T>C	-
NM_001244710.2(GFPT1):c.*4059A>G	2673	GFPT1	Benign	13751	RCV000396983;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69549262	69549262	NC_000002.11:g.69549262T>C	ClinGen:CA10614291	CN239337 Congenital Myasthenic Syndrome, Recessive;
NM_001244710.2(GFPT1):c.*4053T>A	2673	GFPT1	Benign	4128250	RCV000313735;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69549268	69549268	NC_000002.11:g.69549268A>T	ClinGen:CA10615721	CN239337 Congenital Myasthenic Syndrome, Recessive;
NM_001244710.2(GFPT1):c.*3921C>T	2673	GFPT1	Uncertain significance	766868319	RCV001141433;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69549400	69549400	2:g.69549400G>A	-
NM_001244710.2(GFPT1):c.*3781G>T	2673	GFPT1	Benign	116952694	RCV000312640;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69549540	69549540	NC_000002.11:g.69549540C>A	ClinGen:CA10615722	CN239337 Congenital Myasthenic Syndrome, Recessive;
NM_001244710.2(GFPT1):c.*3679G>C	2673	GFPT1	Uncertain significance	531890221	RCV000355699;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69549642	69549642	NC_000002.11:g.69549642C>G	ClinGen:CA10615727	CN239337 Congenital Myasthenic Syndrome, Recessive;
NM_001244710.2(GFPT1):c.*3579T>C	2673	GFPT1	Uncertain significance	886056239	RCV000263186;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69549742	69549742	NC_000002.11:g.69549742A>G	ClinGen:CA10615988	CN239337 Congenital Myasthenic Syndrome, Recessive;
NM_001244710.2(GFPT1):c.*3576A>G	2673	GFPT1	Uncertain significance	150614742	RCV000316076;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69549745	69549745	NC_000002.11:g.69549745T>C	ClinGen:CA10613823	CN239337 Congenital Myasthenic Syndrome, Recessive;
NM_001244710.2(GFPT1):c.*3438A>G	2673	GFPT1	Uncertain significance	575041449	RCV001141434;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69549883	69549883	2:g.69549883T>C	-
NM_001244710.2(GFPT1):c.*3385G>A	2673	GFPT1	Uncertain significance	886056240	RCV000372652;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69549936	69549936	NC_000002.11:g.69549936C>T	ClinGen:CA10613824	CN239337 Congenital Myasthenic Syndrome, Recessive;
NM_001244710.2(GFPT1):c.*3345C>T	2673	GFPT1	Benign	73937245	RCV000266317;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69549976	69549976	NC_000002.11:g.69549976G>A	ClinGen:CA10614292	CN239337 Congenital Myasthenic Syndrome, Recessive;
NM_001244710.2(GFPT1):c.*3345C>G	2673	GFPT1	Uncertain significance	73937245	RCV000323889;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69549976	69549976	NC_000002.11:g.69549976G>C	ClinGen:CA10614293	CN239337 Congenital Myasthenic Syndrome, Recessive;
NM_001244710.2(GFPT1):c.*3287G>A	2673	GFPT1	Uncertain significance	1670448736	RCV001143278;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69550034	69550034	2:g.69550034C>T	-
NM_001244710.2(GFPT1):c.*3285A>G	2673	GFPT1	Benign	7579532	RCV000376118;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69550036	69550036	NC_000002.11:g.69550036T>C	ClinGen:CA10615729	CN239337 Congenital Myasthenic Syndrome, Recessive;
NM_001244710.2(GFPT1):c.*3134A>G	2673	GFPT1	Likely benign	79748218	RCV000284043;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69550187	69550187	2:g.69550187T>C	ClinGen:CA10613837	CN239337 Congenital Myasthenic Syndrome, Recessive;
NM_001244710.2(GFPT1):c.*3091A>T	2673	GFPT1	Uncertain significance	7582334	RCV000327454;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69550230	69550230	2:g.69550230T>A	ClinGen:CA10615989	CN239337 Congenital Myasthenic Syndrome, Recessive;
NM_001244710.2(GFPT1):c.*3091A>C	2673	GFPT1	Benign	7582334	RCV000384360;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69550230	69550230	2:g.69550230T>G	ClinGen:CA10615990	CN239337 Congenital Myasthenic Syndrome, Recessive;
NM_001244710.2(GFPT1):c.*3090G>T	2673	GFPT1	Uncertain significance	886056241	RCV000287732;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69550231	69550231	2:g.69550231C>A	ClinGen:CA10615733	CN239337 Congenital Myasthenic Syndrome, Recessive;
NM_001244710.2(GFPT1):c.*3065G>A	2673	GFPT1	Benign	7568296	RCV000345588;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69550256	69550256	2:g.69550256C>T	ClinGen:CA10615991	CN239337 Congenital Myasthenic Syndrome, Recessive;
NM_001244710.2(GFPT1):c.*3021T>A	2673	GFPT1	Uncertain significance	549806095	RCV000403135;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69550300	69550300	2:g.69550300A>T	ClinGen:CA10613838	CN239337 Congenital Myasthenic Syndrome, Recessive;
NM_001244710.2(GFPT1):c.*3019G>T	2673	GFPT1	Uncertain significance	886056242	RCV000296365;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69550302	69550302	2:g.69550302C>A	ClinGen:CA10613840	CN239337 Congenital Myasthenic Syndrome, Recessive;
NM_001244710.2(GFPT1):c.*2916A>G	2673	GFPT1	Likely benign	114138715	RCV000349007;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69550405	69550405	2:g.69550405T>C	ClinGen:CA10615992	CN239337 Congenital Myasthenic Syndrome, Recessive;
NM_001244710.2(GFPT1):c.*2907C>T	2673	GFPT1	Benign	7568674	RCV001136706;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69550414	69550414	2:g.69550414G>A	-
NM_001244710.2(GFPT1):c.*2758G>A	2673	GFPT1	Uncertain significance	772432908	RCV001138946;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69550563	69550563	2:g.69550563C>T	-
NM_001244710.2(GFPT1):c.*2722C>T	2673	GFPT1	Uncertain significance	892647803	RCV001138947;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69550599	69550599	2:g.69550599G>A	-
NM_001244710.2(GFPT1):c.*2720C>T	2673	GFPT1	Uncertain significance	886056243	RCV000404995;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69550601	69550601	2:g.69550601G>A	ClinGen:CA10615738	CN239337 Congenital Myasthenic Syndrome, Recessive;
NM_001244710.2(GFPT1):c.*2685A>G	2673	GFPT1	Benign	74972420	RCV000299803;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69550636	69550636	2:g.69550636T>C	ClinGen:CA10614295	CN239337 Congenital Myasthenic Syndrome, Recessive;
NM_001244710.2(GFPT1):c.*2669C>T	2673	GFPT1	Benign	10185336	RCV000357113;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69550652	69550652	2:g.69550652G>A	ClinGen:CA10615993	CN239337 Congenital Myasthenic Syndrome, Recessive;
NM_001244710.2(GFPT1):c.*2634C>T	2673	GFPT1	Uncertain significance	1002266594	RCV001138948;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69550687	69550687	2:g.69550687G>A	-
NM_001244710.2(GFPT1):c.*2622G>A	2673	GFPT1	Uncertain significance	1670462400	RCV001138949;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69550699	69550699	2:g.69550699C>T	-
NM_001244710.2(GFPT1):c.*2511T>A	2673	GFPT1	Benign	60949141	RCV001141545;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69550810	69550810	2:g.69550810A>T	-
NM_001244710.2(GFPT1):c.*2510A>T	2673	GFPT1	Uncertain significance	61159728	RCV000299069;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69550811	69550811	2:g.69550811T>A	ClinGen:CA10614297	CN239337 Congenital Myasthenic Syndrome, Recessive;
NM_001244710.2(GFPT1):c.*2509A>T	2673	GFPT1	Uncertain significance	866089468	RCV000360905;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69550812	69550812	2:g.69550812T>A	ClinGen:CA10615742	CN239337 Congenital Myasthenic Syndrome, Recessive;
NM_001244710.2(GFPT1):c.*2508A>T	2673	GFPT1	Uncertain significance	1208953624	RCV001141546;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69550813	69550813	2:g.69550813T>A	-
NM_001244710.2(GFPT1):c.*2498A>G	2673	GFPT1	Uncertain significance	1015403272	RCV001141547;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69550823	69550823	2:g.69550823T>C	-
NM_001244710.2(GFPT1):c.*2473C>T	2673	GFPT1	Uncertain significance	886056244	RCV000268366;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69550848	69550848	2:g.69550848G>A	ClinGen:CA10615997	CN239337 Congenital Myasthenic Syndrome, Recessive;
NM_001244710.2(GFPT1):c.*2464C>A	2673	GFPT1	Uncertain significance	541938366	RCV000321140;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69550857	69550857	2:g.69550857G>T	ClinGen:CA10615999	CN239337 Congenital Myasthenic Syndrome, Recessive;
NM_001244710.2(GFPT1):c.*2428G>A	2673	GFPT1	Likely benign	191588030	RCV001141548;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69550893	69550893	2:g.69550893C>T	-
NM_001244710.2(GFPT1):c.*2420C>T	2673	GFPT1	Uncertain significance	886056245	RCV000359754;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69550901	69550901	2:g.69550901G>A	ClinGen:CA10616003	CN239337 Congenital Myasthenic Syndrome, Recessive;
NM_001244710.2(GFPT1):c.*2418C>T	2673	GFPT1	Uncertain significance	966070692	RCV001143379;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69550903	69550903	2:g.69550903G>A	-
NM_001244710.2(GFPT1):c.*2410C>T	2673	GFPT1	Uncertain significance	914030975	RCV001143380;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69550911	69550911	2:g.69550911G>A	-
NM_001244710.2(GFPT1):c.*2368C>T	2673	GFPT1	Uncertain significance	572137795	RCV000272159;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69550953	69550953	2:g.69550953G>A	ClinGen:CA10616009	CN239337 Congenital Myasthenic Syndrome, Recessive;
NM_001244710.2(GFPT1):c.*2364C>T	2673	GFPT1	Likely benign	182934478	RCV000329424;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69550957	69550957	2:g.69550957G>A	ClinGen:CA10614298	CN239337 Congenital Myasthenic Syndrome, Recessive;
NM_001244710.2(GFPT1):c.*2325G>A	2673	GFPT1	Uncertain significance	886056246	RCV000381731;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69550996	69550996	2:g.69550996C>T	ClinGen:CA10616011	CN239337 Congenital Myasthenic Syndrome, Recessive;
NM_001244710.2(GFPT1):c.*2323C>T	2673	GFPT1	Uncertain significance	1026843260	RCV001143381;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69550998	69550998	2:g.69550998G>A	-
NM_001244710.2(GFPT1):c.*2310A>G	2673	GFPT1	Benign	10198150	RCV000294511;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69551011	69551011	2:g.69551011T>C	ClinGen:CA10615743	CN239337 Congenital Myasthenic Syndrome, Recessive;
NM_001244710.2(GFPT1):c.*2269A>G	2673	GFPT1	Benign	10198171	RCV000333128;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69551052	69551052	2:g.69551052T>C	ClinGen:CA10615753	CN239337 Congenital Myasthenic Syndrome, Recessive;
NM_001244710.2(GFPT1):c.*2223C>T	2673	GFPT1	Uncertain significance	145374217	RCV000385401;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69551098	69551098	NC_000002.11:g.69551098G>A	ClinGen:CA10613842	CN239337 Congenital Myasthenic Syndrome, Recessive;
NM_001244710.2(GFPT1):c.*2219C>T	2673	GFPT1	Benign	149217357	RCV000293424;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69551102	69551102	NC_000002.11:g.69551102G>A	ClinGen:CA10614299	CN239337 Congenital Myasthenic Syndrome, Recessive;
NM_001244710.2(GFPT1):c.*2017A>G	2673	GFPT1	Uncertain significance	1670478208	RCV001136806;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69551304	69551304	2:g.69551304T>C	-
NM_001244710.2(GFPT1):c.*1901A>G	2673	GFPT1	Uncertain significance	989010524	RCV001136807;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69551420	69551420	2:g.69551420T>C	-
NM_001244710.2(GFPT1):c.*1869A>G	2673	GFPT1	Uncertain significance	886056247	RCV000404744;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69551452	69551452	NC_000002.11:g.69551452T>C	ClinGen:CA10616013	CN239337 Congenital Myasthenic Syndrome, Recessive;
NM_001244710.2(GFPT1):c.*1741C>G	2673	GFPT1	Uncertain significance	886056248	RCV000282491;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69551580	69551580	NC_000002.11:g.69551580G>C	ClinGen:CA10615755	CN239337 Congenital Myasthenic Syndrome, Recessive;
NM_001244710.2(GFPT1):c.*1738C>A	2673	GFPT1	Uncertain significance	557996332	RCV001139047;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69551583	69551583	2:g.69551583G>T	-
NM_001244710.2(GFPT1):c.*1639A>G	2673	GFPT1	Uncertain significance	886056249	RCV000337510;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69551682	69551682	NC_000002.11:g.69551682T>C	ClinGen:CA10613843	CN239337 Congenital Myasthenic Syndrome, Recessive;
NM_001244710.2(GFPT1):c.*1540A>T	2673	GFPT1	Uncertain significance	886056250	RCV000402841;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69551781	69551781	NC_000002.11:g.69551781T>A	ClinGen:CA10613845	CN239337 Congenital Myasthenic Syndrome, Recessive;
NM_001244710.2(GFPT1):c.*1464A>G	2673	GFPT1	Uncertain significance	889572078	RCV001139048;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69551857	69551857	2:g.69551857T>C	-
NM_001244710.2(GFPT1):c.*1461T>G	2673	GFPT1	Uncertain significance	146949335	RCV000302394;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69551860	69551860	NC_000002.11:g.69551860A>C	ClinGen:CA10613848	CN239337 Congenital Myasthenic Syndrome, Recessive;
NM_001244710.2(GFPT1):c.*1425C>T	2673	GFPT1	Uncertain significance	781269204	RCV000361661;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69551896	69551896	NC_000002.11:g.69551896G>A	ClinGen:CA10614302	CN239337 Congenital Myasthenic Syndrome, Recessive;
NM_001244710.2(GFPT1):c.*1401G>A	2673	GFPT1	Uncertain significance	868495183	RCV000393173;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69551920	69551920	NC_000002.11:g.69551920C>T	ClinGen:CA10614303	CN239337 Congenital Myasthenic Syndrome, Recessive;
NM_001244710.2(GFPT1):c.*1244G>T	2673	GFPT1	Benign	73937246	RCV000308059;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69552077	69552077	NC_000002.11:g.69552077C>A	ClinGen:CA10615776	CN239337 Congenital Myasthenic Syndrome, Recessive;
NM_001244710.2(GFPT1):c.*1168C>T	2673	GFPT1	Uncertain significance	886056251	RCV000362708;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69552153	69552153	NC_000002.11:g.69552153G>A	ClinGen:CA10613850	CN239337 Congenital Myasthenic Syndrome, Recessive;
NM_001244710.2(GFPT1):c.*1090G>A	2673	GFPT1	Uncertain significance	886056252	RCV000272857;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69552231	69552231	NC_000002.11:g.69552231C>T	ClinGen:CA10616016	CN239337 Congenital Myasthenic Syndrome, Recessive;
NM_001244710.2(GFPT1):c.*1085A>G	2673	GFPT1	Benign	75177078	RCV000327963;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69552236	69552236	NC_000002.11:g.69552236T>C	ClinGen:CA10615778	CN239337 Congenital Myasthenic Syndrome, Recessive;
NM_001244710.2(GFPT1):c.*1083A>C	2673	GFPT1	Uncertain significance	886056253	RCV000368385;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69552238	69552238	NC_000002.11:g.69552238T>G	ClinGen:CA10614304	CN239337 Congenital Myasthenic Syndrome, Recessive;
NM_001244710.2(GFPT1):c.*1057G>A	2673	GFPT1	Uncertain significance	1670498399	RCV001141665;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69552264	69552264	2:g.69552264C>T	-
NM_001244710.2(GFPT1):c.*1053G>A	2673	GFPT1	Likely benign	535434783	RCV000273726;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69552268	69552268	NC_000002.11:g.69552268C>T	ClinGen:CA10613852	CN239337 Congenital Myasthenic Syndrome, Recessive;
NM_001244710.2(GFPT1):c.*977T>C	2673	GFPT1	Uncertain significance	182921837	RCV001141666;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69552344	69552344	2:g.69552344A>G	-
NM_001244710.2(GFPT1):c.*870C>A	2673	GFPT1	Benign	77753566	RCV000333404;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69552451	69552451	NC_000002.11:g.69552451G>T	ClinGen:CA10614305	CN239337 Congenital Myasthenic Syndrome, Recessive;
NM_001244710.2(GFPT1):c.*867G>A	2673	GFPT1	Likely benign	72905155	RCV000387927;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69552454	69552454	NC_000002.11:g.69552454C>T	ClinGen:CA10615786	CN239337 Congenital Myasthenic Syndrome, Recessive;
NM_001244710.2(GFPT1):c.*819T>C	2673	GFPT1	Uncertain significance	753245475	RCV001143484;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69552502	69552502	2:g.69552502A>G	-
NM_001244710.2(GFPT1):c.*800G>T	2673	GFPT1	Benign	2667	RCV000260888;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69552521	69552521	NC_000002.11:g.69552521C>A	ClinGen:CA10614306	CN239337 Congenital Myasthenic Syndrome, Recessive;
NM_001244710.2(GFPT1):c.*689A>G	2673	GFPT1	Uncertain significance	886056254	RCV000316165;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69552632	69552632	NC_000002.11:g.69552632T>C	ClinGen:CA10616023	CN239337 Congenital Myasthenic Syndrome, Recessive;
NM_001244710.2(GFPT1):c.*673A>G	2673	GFPT1	Likely benign	533310642	RCV001143485;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69552648	69552648	2:g.69552648T>C	-
NM_001244710.2(GFPT1):c.*666T>C	2673	GFPT1	Uncertain significance	543343212	RCV000375305;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69552655	69552655	NC_000002.11:g.69552655A>G	ClinGen:CA10614308	CN239337 Congenital Myasthenic Syndrome, Recessive;
NM_001244710.2(GFPT1):c.*635G>A	2673	GFPT1	Uncertain significance	1046512995	RCV001136906;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69552686	69552686	2:g.69552686C>T	-
NM_001244710.2(GFPT1):c.*603G>A	2673	GFPT1	Benign	78097440	RCV000280908;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69552718	69552718	NC_000002.11:g.69552718C>T	ClinGen:CA10613854	CN239337 Congenital Myasthenic Syndrome, Recessive;
NM_001244710.2(GFPT1):c.*454T>G	2673	GFPT1	Uncertain significance	796956367	RCV000340138;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69552867	69552867	NC_000002.11:g.69552867A>C	ClinGen:CA10616040	CN239337 Congenital Myasthenic Syndrome, Recessive;
NM_001244710.2(GFPT1):c.*395C>T	2673	GFPT1	Uncertain significance	537215984	RCV000376041;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69552926	69552926	2:g.69552926G>A	ClinGen:CA10613856	CN239337 Congenital Myasthenic Syndrome, Recessive;
NM_001244710.2(GFPT1):c.*383T>G	2673	GFPT1	Uncertain significance	886056255	RCV000286333;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69552938	69552938	2:g.69552938A>C	ClinGen:CA10613857	CN239337 Congenital Myasthenic Syndrome, Recessive;
NM_001244710.2(GFPT1):c.*272T>G	2673	GFPT1	Uncertain significance	1670519345	RCV001136907;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69553049	69553049	2:g.69553049A>C	-
NM_001244710.2(GFPT1):c.*196G>A	2673	GFPT1	Uncertain significance	886056256	RCV000341348;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69553125	69553125	2:g.69553125C>T	ClinGen:CA10616041	CN239337 Congenital Myasthenic Syndrome, Recessive;
NM_001244710.2(GFPT1):c.*186G>T	2673	GFPT1	Uncertain significance	886056257	RCV000404599;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69553135	69553135	2:g.69553135C>A	ClinGen:CA10616042	CN239337 Congenital Myasthenic Syndrome, Recessive;
NM_001244710.2(GFPT1):c.*176C>T	2673	GFPT1	Uncertain significance	1428235397	RCV001139146;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69553145	69553145	2:g.69553145G>A	-
NM_001244710.2(GFPT1):c.*169C>T	2673	GFPT1	Uncertain significance	6729690	RCV000306604;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69553152	69553152	2:g.69553152G>A	ClinGen:CA10616044	CN239337 Congenital Myasthenic Syndrome, Recessive;
NM_001244710.2(GFPT1):c.*112C>T	2673	GFPT1	Uncertain significance	886056258	RCV000347400;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69553209	69553209	2:g.69553209G>A	ClinGen:CA10613860	CN239337 Congenital Myasthenic Syndrome, Recessive;
NM_001244710.2(GFPT1):c.*86C>A	2673	GFPT1	Uncertain significance	886056259	RCV000397596;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69553235	69553235	2:g.69553235G>T	ClinGen:CA10616046	CN239337 Congenital Myasthenic Syndrome, Recessive;
NM_001244710.2(GFPT1):c.*52C>A	2673	GFPT1	Uncertain significance	554824301	RCV000311732;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69553269	69553269	2:g.69553269G>T	ClinGen:CA10614309	CN239337 Congenital Myasthenic Syndrome, Recessive;
NM_001244710.2(GFPT1):c.*22C>A	2673	GFPT1	Conflicting interpretations of pathogenicity	199678034	RCV000190590\|RCV000514285\|RCV000844698\|RCV002469055;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590\|MedGen:C3661900\|MedGen:CN169374\|MONDO:MONDO:0018940,MeSH:D020294,MedGen:C0751882,OMIM:PS601462, Orphanet:590	2	69553299	69553299	NC_000002.11:g.69553299G>T	ClinGen:CA204561	C3552335 610542 Congenital myasthenic syndrome 12;
NC_000002.11:g.(?_69553299)_(69614213_?)dup	2673	GFPT1	Uncertain significance	-1	RCV001322667;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69553299	69614213	-1	-
NC_000002.11:g.(?_69553299)_(69614213_?)del	2673	GFPT1	Pathogenic	-1	RCV001381162;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69553299	69614213	-1	-
NM_001244710.2(GFPT1):c.*22C>T	2673	GFPT1	Uncertain significance	199678034	RCV002035878;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69553299	69553299	69553299	-
NC_000002.11:g.(?_69553299)_(69597260_?)dup	2673	GFPT1	Uncertain significance	-1	RCV003105718;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69553299	69597260		-
NM_001244710.2(GFPT1):c.*1G>C	2673	GFPT1	Uncertain significance	143011449	RCV001139147;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69553320	69553320	2:g.69553320C>G	-
NM_001244710.2(GFPT1):c.2091T>C (p.Thr697=)	2673	GFPT1	Likely benign	-1	RCV002642730;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69553330	69553330		-
NM_001244710.2(GFPT1):c.2079C>T (p.Ala693=)	2673	GFPT1	Likely benign	754236476	RCV001418887;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69553342	69553342	2:g.69553342G>A	-
NM_001244710.2(GFPT1):c.2056-4G>T	2673	GFPT1	Likely benign	-1	RCV002591248;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69553369	69553369	NC_000002.11:g.69553369C>A	-
NM_001244710.2(GFPT1):c.2056-10_2056-9del	2673	GFPT1	Likely benign	778019023	RCV002203302;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69553374	69553375	69553373	-
NM_001244710.2(GFPT1):c.2056-9T>G	2673	GFPT1	Likely benign	-1	RCV003038087;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69553374	69553374	NC_000002.11:g.69553374A>C	-
NM_001244710.2(GFPT1):c.2056-10C>T	2673	GFPT1	Benign/Likely benign	201931307	RCV001557101\|RCV002072092;	N	MedGen:C3661900\|MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69553375	69553375	69553375	-
NM_001244710.2(GFPT1):c.2056-11dup	2673	GFPT1	Benign	201268947	RCV002162350;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69553375	69553376	69553375	-
NM_001244710.2(GFPT1):c.2056-12_2056-11del	2673	GFPT1	Conflicting interpretations of pathogenicity	201268947	RCV000298849\|RCV001653626\|RCV001514833;	N	MedGen:CN239337\|MedGen:CN517202\|MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69553376	69553377	2:g.69553376_69553377del	ClinGen:CA1693499	CN239337 Congenital Myasthenic Syndrome, Recessive;
NM_001244710.2(GFPT1):c.2056-11del	2673	GFPT1	Conflicting interpretations of pathogenicity	201268947	RCV000276530\|RCV001420846\|RCV001520368\|RCV001653625;	N	MedGen:CN239337\|MedGen:CN169374\|MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590\|MedGen:CN517202	2	69553376	69553376	2:g.69553376_69553376del	ClinGen:CA1693500	CN239337 Congenital Myasthenic Syndrome, Recessive;
NM_001244710.2(GFPT1):c.2055+3A>G	2673	GFPT1	Uncertain significance	937857366	RCV000527468;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69554043	69554043	NC_000002.11:g.69554043T>C	ClinGen:CA49444869	C3552335 610542 Congenital myasthenic syndrome 12;
NM_001244710.2(GFPT1):c.2043G>C (p.Leu681=)	2673	GFPT1	Likely benign	766101867	RCV001505851;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69554058	69554058	69554058	-
NM_001244710.2(GFPT1):c.2040G>A (p.Val680=)	2673	GFPT1	Benign	-1	RCV002726235;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69554061	69554061		-
NM_001244710.2(GFPT1):c.2031C>T (p.His677=)	2673	GFPT1	Likely benign	2104595358	RCV001425674;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69554070	69554070	69554070	-
NM_001244710.2(GFPT1):c.2005A>T (p.Ile669Phe)	2673	GFPT1	Uncertain significance	2104595390	RCV002040893;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69554096	69554096	69554096	-
NM_001244710.2(GFPT1):c.2001C>T (p.Ser667=)	2673	GFPT1	Conflicting interpretations of pathogenicity	765856240	RCV000353509;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69554100	69554100	2:g.69554100G>A	ClinGen:CA1693522	CN239337 Congenital Myasthenic Syndrome, Recessive;
NM_001244710.2(GFPT1):c.1997T>C (p.Leu666Pro)	2673	GFPT1	Uncertain significance	1670545826	RCV001203302;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69554104	69554104	2:g.69554104A>G	-
NM_001244710.2(GFPT1):c.1984T>C (p.Leu662=)	2673	GFPT1	Likely benign	1370889713	RCV001502373;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69554117	69554117	69554117	-
NM_001244710.2(GFPT1):c.1970A>G (p.His657Arg)	2673	GFPT1	Uncertain significance	2104595457	RCV002006133;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69554131	69554131	69554131	-
NM_001244710.2(GFPT1):c.1962G>C (p.Lys654Asn)	2673	GFPT1	Uncertain significance	368208403	RCV000547776\|RCV001267516;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590\|MeSH:D030342,MedGen:C0950123	2	69554139	69554139	NC_000002.11:g.69554139C>G	ClinGen:CA49444945	C3552335 610542 Congenital myasthenic syndrome 12;
NM_001244710.2(GFPT1):c.1956G>A (p.Thr652=)	2673	GFPT1	Likely benign	-1	RCV002927487;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69554145	69554145		-
NM_001244710.2(GFPT1):c.1955C>G (p.Thr652Arg)	2673	GFPT1	Uncertain significance	781377676	RCV001039537;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69554146	69554146	2:g.69554146G>C	-
NM_001244710.2(GFPT1):c.1955C>T (p.Thr652Met)	2673	GFPT1	Uncertain significance	781377676	RCV001343638;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69554146	69554146	69554146	-
NM_001244710.2(GFPT1):c.1936A>G (p.Ile646Val)	2673	GFPT1	Uncertain significance	1574039131	RCV001323209;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69554165	69554165	69554165	-
NM_001244710.2(GFPT1):c.1927A>G (p.Thr643Ala)	2673	GFPT1	Uncertain significance	772026265	RCV000692718;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69554174	69554174	2:g.69554174T>C	-	C3552335 610542 Congenital myasthenic syndrome 12;
NM_001244710.2(GFPT1):c.1925A>T (p.Asp642Val)	2673	GFPT1	Uncertain significance	1553385828	RCV000542143;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69554176	69554176	2:g.69554176T>A	ClinGen:CA347421655	C3552335 610542 Congenital myasthenic syndrome 12;
NM_001244710.2(GFPT1):c.1922A>G (p.Glu641Gly)	2673	GFPT1	Uncertain significance	1670547736	RCV001058228;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69554179	69554179	2:g.69554179T>C	-
NM_001244710.2(GFPT1):c.1919A>G (p.Lys640Arg)	2673	GFPT1	Uncertain significance	772640415	RCV000815942;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69554182	69554182	2:g.69554182T>C	-
NM_001244710.2(GFPT1):c.1905G>A (p.Val635=)	2673	GFPT1	Likely benign	1558725033	RCV002099323;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69554196	69554196	69554196	-
NM_001244710.2(GFPT1):c.1898G>A (p.Arg633Gln)	2673	GFPT1	Uncertain significance	2104595615	RCV002030433;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69554203	69554203	69554203	-
NM_001244710.2(GFPT1):c.1894-9C>T	2673	GFPT1	Likely benign	765467067	RCV002085843;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69554216	69554216	69554216	-
NM_001244710.2(GFPT1):c.1894-9C>G	2673	GFPT1	Likely benign	-1	RCV003067240;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69554216	69554216	NC_000002.11:g.69554216G>C	-
NM_001244710.2(GFPT1):c.1894-14A>G	2673	GFPT1	Likely benign	775899275	RCV002154192;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69554221	69554221	69554221	-
NM_001244710.2(GFPT1):c.1893+7C>T	2673	GFPT1	Likely benign	375872036	RCV000877185;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69555396	69555396	2:g.69555396G>A	-
NM_001244710.2(GFPT1):c.1882G>A (p.Val628Ile)	2673	GFPT1	Conflicting interpretations of pathogenicity	190072721	RCV000502430\|RCV000527169;	N	MedGen:CN169374\|MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69555414	69555414	NC_000002.11:g.69555414C>T	ClinGen:CA1693557	C3552335 610542 Congenital myasthenic syndrome 12;
NM_001244710.2(GFPT1):c.1879G>A (p.Val627Met)	2673	GFPT1	Conflicting interpretations of pathogenicity	372725563	RCV000481544\|RCV001367890;	N	MedGen:CN517202\|MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69555417	69555417	2:g.69555417C>T	ClinGen:CA1693558	CN517202 not provided;
NM_001244710.2(GFPT1):c.1878A>G (p.Gln626=)	2673	GFPT1	Conflicting interpretations of pathogenicity	200986371	RCV001878620\|RCV002478134;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590\|MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590; MONDO:MONDO:0012157,MedGen:C1837091,OMIM:608931, Orphanet:590	2	69555418	69555418	69555418	-
NM_001244710.2(GFPT1):c.1851T>C (p.Tyr617=)	2673	GFPT1	Likely benign	377155851	RCV002542256;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69555445	69555445	2:g.69555445A>G	-
NM_001244710.2(GFPT1):c.1851T>G (p.Tyr617Ter)	2673	GFPT1	Pathogenic	-1	RCV002659456;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69555445	69555445	NC_000002.11:g.69555445A>C	-
NM_001244710.2(GFPT1):c.1845C>T (p.His615=)	2673	GFPT1	Likely benign	756332941	RCV001401936;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69555451	69555451	69555451	-
NM_001244710.2(GFPT1):c.1837A>G (p.Arg613Gly)	2673	GFPT1	Uncertain significance	-1	RCV002706214;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69555459	69555459	NC_000002.11:g.69555459T>C	-
NM_001244710.2(GFPT1):c.1809A>G (p.Lys603=)	2673	GFPT1	Likely benign	-1	RCV002881551;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69555487	69555487		-
NM_001244710.2(GFPT1):c.1788C>G (p.Gly596=)	2673	GFPT1	Likely benign	-1	RCV002917764;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69555508	69555508		-
NM_001244710.2(GFPT1):c.1726-9T>C	2673	GFPT1	Likely benign	757234942	RCV002129363;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69555579	69555579	69555579	-
NM_001244710.2(GFPT1):c.1726-16G>C	2673	GFPT1	Likely benign	-1	RCV003056076;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69555586	69555586	NC_000002.11:g.69555586C>G	-
NM_001244710.2(GFPT1):c.1725+14G>A	2673	GFPT1	Benign	201672242	RCV002102985;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69556415	69556415	69556415	-
NM_001244710.2(GFPT1):c.1722A>C (p.Ala574=)	2673	GFPT1	Likely benign	2104599962	RCV002075355;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69556432	69556432	69556432	-
NM_001244710.2(GFPT1):c.1705A>C (p.Thr569Pro)	2673	GFPT1	Uncertain significance	-1	RCV002994948;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69556449	69556449	NC_000002.11:g.69556449T>G	-
NM_001244710.2(GFPT1):c.1687C>G (p.Arg563Gly)	2673	GFPT1	Uncertain significance	757328377	RCV001141769;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69556467	69556467	2:g.69556467G>C	-
NM_001244710.2(GFPT1):c.1687C>T (p.Arg563Ter)	2673	GFPT1	Pathogenic	-1	RCV002832964;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69556467	69556467	NC_000002.11:g.69556467G>A	-
NM_001244710.2(GFPT1):c.1685G>A (p.Gly562Glu)	2673	GFPT1	Uncertain significance	-1	RCV002647909;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69556469	69556469	NC_000002.11:g.69556469C>T	-
NM_001244710.2(GFPT1):c.1644A>G (p.Leu548=)	2673	GFPT1	Likely benign	2104600073	RCV002128706;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69556510	69556510	69556510	-
NM_001244710.2(GFPT1):c.1629C>T (p.Asp543=)	2673	GFPT1	Conflicting interpretations of pathogenicity	369055649	RCV000503912\|RCV001412617;	N	MedGen:CN169374\|MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69556525	69556525	2:g.69556525G>A	ClinGen:CA1693593	CN169374 not specified;
NM_001244710.2(GFPT1):c.1624G>T (p.Asp542Tyr)	2673	GFPT1	Uncertain significance	1308915445	RCV001346401;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69556530	69556530	69556530	-
NM_001244710.2(GFPT1):c.1610A>C (p.Glu537Ala)	2673	GFPT1	Uncertain significance	988021644	RCV001325322;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69556544	69556544	69556544	-
NM_001244710.2(GFPT1):c.1598-5C>A	2673	GFPT1	Likely benign	-1	RCV002603132;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69556561	69556561	NC_000002.11:g.69556561G>T	-
NM_001244710.2(GFPT1):c.1598-8C>T	2673	GFPT1	Likely benign	-1	RCV003074508;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69556564	69556564	NC_000002.11:g.69556564G>A	-
NM_001244710.2(GFPT1):c.1597+15dup	2673	GFPT1	Likely benign	2104600661	RCV002180431;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69556800	69556801	69556800	-
NM_001244710.2(GFPT1):c.1597+11A>C	2673	GFPT1	Likely benign	778286888	RCV002077989;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69556805	69556805	69556805	-
NM_001244710.2(GFPT1):c.1597+5A>G	2673	GFPT1	Uncertain significance	373420002	RCV000690850;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69556811	69556811	2:g.69556811T>C	ClinGen:CA1693618	C3552335 610542 Congenital myasthenic syndrome 12;
NM_001244710.2(GFPT1):c.1561C>T (p.Arg521Cys)	2673	GFPT1	Uncertain significance	1421146245	RCV000548624;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69556852	69556852	NC_000002.11:g.69556852G>A	ClinGen:CA347422861	C3552335 610542 Congenital myasthenic syndrome 12;
NM_001244710.2(GFPT1):c.1547C>T (p.Ser516Phe)	2673	GFPT1	Uncertain significance	-1	RCV003152832;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69556866	69556866		-
NM_001244710.2(GFPT1):c.1542G>A (p.Arg514=)	2673	GFPT1	Likely benign	767370476	RCV001424809;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69556871	69556871	2:g.69556871C>T	-
NM_001244710.2(GFPT1):c.1540C>T (p.Arg514Trp)	2673	GFPT1	Uncertain significance	2104600845	RCV001907717;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69556873	69556873	69556873	-
NM_001244710.2(GFPT1):c.1534G>A (p.Asp512Asn)	2673	GFPT1	Uncertain significance	1553386276	RCV000533856;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69556879	69556879	2:g.69556879C>T	ClinGen:CA347422923	C3552335 610542 Congenital myasthenic syndrome 12;
NM_001244710.2(GFPT1):c.1526T>C (p.Met509Thr)	2673	GFPT1	Likely pathogenic	-1	RCV002292217;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69556887	69556887	69556887	-
NM_001244710.2(GFPT1):c.1519G>T (p.Ala507Ser)	2673	GFPT1	Uncertain significance	1670617199	RCV001338213;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69556894	69556894	69556894	-
NM_001244710.2(GFPT1):c.1501G>A (p.Val501Ile)	2673	GFPT1	Uncertain significance	1279403583	RCV001937300;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69556912	69556912	69556912	-
NM_001244710.2(GFPT1):c.1494C>T (p.Ser498=)	2673	GFPT1	Uncertain significance	766223183	RCV000318564;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69556919	69556919	2:g.69556919G>A	ClinGen:CA1693628	CN239337 Congenital Myasthenic Syndrome, Recessive;
NM_001244710.2(GFPT1):c.1483G>T (p.Ala495Ser)	2673	GFPT1	Uncertain significance	1438504838	RCV000702024;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69556930	69556930	NC_000002.11:g.69556930C>A	-	C3552335 610542 Congenital myasthenic syndrome 12;
NM_001244710.2(GFPT1):c.1483-8T>C	2673	GFPT1	Likely benign	569347921	RCV001412154;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69556938	69556938	69556938	-
NM_001244710.2(GFPT1):c.1483-11T>G	2673	GFPT1	Likely benign	147573852	RCV002187924;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69556941	69556941	69556941	-
NM_001244710.2(GFPT1):c.1482+16A>G	2673	GFPT1	Likely benign	376276502	RCV002108206;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69565014	69565014	69565014	-
NM_001244710.2(GFPT1):c.1458T>G (p.Pro486=)	2673	GFPT1	Likely benign	370693172	RCV001392057;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69565054	69565054	69565054	-
NM_001244710.2(GFPT1):c.1431T>C (p.Asp477=)	2673	GFPT1	Uncertain significance	1269092915	RCV001141770;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69565081	69565081	2:g.69565081A>G	-
NM_001244710.2(GFPT1):c.1412C>T (p.Ser471Phe)	2673	GFPT1	Uncertain significance	1670840972	RCV001305171;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69565100	69565100	69565100	-
NM_001244710.2(GFPT1):c.1359_1361del (p.Cys454del)	2673	GFPT1	Uncertain significance	-1	RCV003037761;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69565151	69565153	NC_000002.11:g.69565151_69565153del	-
NM_001244710.2(GFPT1):c.1354C>T (p.Arg452Cys)	2673	GFPT1	Uncertain significance	759081713	RCV002021547;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69565158	69565158	69565158	-
NM_001244710.2(GFPT1):c.1345A>T (p.Met449Leu)	2673	GFPT1	Uncertain significance	-1	RCV002756688;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69565167	69565167	NC_000002.11:g.69565167T>A	-
NM_001244710.2(GFPT1):c.1342T>C (p.Leu448=)	2673	GFPT1	Likely benign	968995023	RCV001417818;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69565170	69565170	69565170	-
NM_001244710.2(GFPT1):c.1339A>G (p.Thr447Ala)	2673	GFPT1	Uncertain significance	1287808167	RCV001215122;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69565173	69565173	2:g.69565173T>C	-
NM_001244710.2(GFPT1):c.1335A>G (p.Ala445=)	2673	GFPT1	Likely benign	2104616321	RCV002105333;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69565177	69565177	69565177	-
NM_001244710.2(GFPT1):c.1324+10_1324+15del	2673	GFPT1	Likely benign	777934882	RCV000875979;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69565562	69565567	2:g.69565562_69565567del	-
NM_001244710.2(GFPT1):c.1324+13del	2673	GFPT1	Benign/Likely benign	113734896	RCV000243846\|RCV000377913\|RCV001520369\|RCV001705345;	N	MedGen:CN169374\|MedGen:CN239337\|MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590\|MedGen:CN517202	2	69565564	69565564	2:g.69565564_69565564del	ClinGen:CA1693670	CN239337 Congenital Myasthenic Syndrome, Recessive;
NM_001244710.2(GFPT1):c.1324+3G>A	2673	GFPT1	Uncertain significance	367865496	RCV001201703;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69565574	69565574	2:g.69565574C>T	-
NM_001244710.2(GFPT1):c.1320A>G (p.Gln440=)	2673	GFPT1	Likely benign	1196976693	RCV001888426;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69565581	69565581	69565581	-
NM_001244710.2(GFPT1):c.1309T>A (p.Phe437Ile)	2673	GFPT1	Uncertain significance	766450555	RCV000549698;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69565592	69565592	2:g.69565592A>T	ClinGen:CA347124564	C3552335 610542 Congenital myasthenic syndrome 12;
NM_001244710.2(GFPT1):c.1309T>C (p.Phe437Leu)	2673	GFPT1	Uncertain significance	766450555	RCV001267515\|RCV001880148;	N	MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69565592	69565592	2:g.69565592A>G	-
NM_001244710.2(GFPT1):c.1296T>C (p.Asp432=)	2673	GFPT1	Likely benign	-1	RCV002637011;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69565605	69565605		-
NM_001244710.2(GFPT1):c.1290dup (p.Arg431fs)	2673	GFPT1	Pathogenic	2104617143	RCV001382936;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69565610	69565611	69565610	-
NM_001244710.2(GFPT1):c.1267C>T (p.Leu423=)	2673	GFPT1	Likely benign	1168233879	RCV000909969;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69565634	69565634	2:g.69565634G>A	-
NM_001244710.2(GFPT1):c.1255G>T (p.Ala419Ser)	2673	GFPT1	Uncertain significance	2104617186	RCV001899865;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69565646	69565646	69565646	-
NM_001244710.2(GFPT1):c.1243A>G (p.Met415Val)	2673	GFPT1	Uncertain significance	1670858310	RCV001056411;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69565658	69565658	2:g.69565658T>C	-
NM_001244710.2(GFPT1):c.1212A>G (p.Gln404=)	2673	GFPT1	Likely benign	1339146756	RCV001395892;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69565689	69565689	69565689	-
NM_001244710.2(GFPT1):c.1204-3C>T	2673	GFPT1	Uncertain significance	1307653021	RCV001893460;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69565700	69565700	69565700	-
NM_001244710.2(GFPT1):c.1204-13A>G	2673	GFPT1	Likely benign	-1	RCV002705325;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69565710	69565710	NC_000002.11:g.69565710T>C	-
NM_001244710.2(GFPT1):c.1203+12T>A	2673	GFPT1	Uncertain significance	886056260	RCV000264939;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69569272	69569272	2:g.69569272A>T	ClinGen:CA10614311	CN239337 Congenital Myasthenic Syndrome, Recessive;
NM_001244710.2(GFPT1):c.1188C>T (p.Tyr396=)	2673	GFPT1	Likely benign	1161440351	RCV002115497;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69569299	69569299	69569299	-
NM_001244710.2(GFPT1):c.1187A>T (p.Tyr396Phe)	2673	GFPT1	Uncertain significance	1553388418	RCV000535788;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69569300	69569300	NC_000002.11:g.69569300T>A	ClinGen:CA347125288	C3552335 610542 Congenital myasthenic syndrome 12;
NM_001244710.2(GFPT1):c.1183A>G (p.Ser395Gly)	2673	GFPT1	Uncertain significance	1553388422	RCV000557475;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69569304	69569304	2:g.69569304T>C	ClinGen:CA347125300	C3552335 610542 Congenital myasthenic syndrome 12;
NM_001244710.2(GFPT1):c.1178G>C (p.Gly393Ala)	2673	GFPT1	Uncertain significance	1553388425	RCV000547059;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69569309	69569309	NC_000002.11:g.69569309C>G	ClinGen:CA347125309	C3552335 610542 Congenital myasthenic syndrome 12;
NM_001244710.2(GFPT1):c.1154G>A (p.Arg385Gln)	2673	GFPT1	Uncertain significance	1670968909	RCV001044489;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69569333	69569333	2:g.69569333C>T	-
NM_001244710.2(GFPT1):c.1106-1G>T	2673	GFPT1	Likely pathogenic	1670970306	RCV001237056;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69569382	69569382	2:g.69569382C>A	-
NM_001244710.2(GFPT1):c.1106-9T>C	2673	GFPT1	Likely benign	-1	RCV003093499;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69569390	69569390	NC_000002.11:g.69569390A>G	-
NC_000002.11:g.(?_69573016)_(69575486_?)del	2673	GFPT1	Pathogenic	-1	RCV003105717;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69573016	69575486		-
NM_001244710.2(GFPT1):c.1105+7A>G	2673	GFPT1	Benign	6722492	RCV000117140\|RCV000324739;	N	MedGen:CN169374\|MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69573029	69573029	2:g.69573029T>C	ClinGen:CA152968	CN239337 Congenital Myasthenic Syndrome, Recessive;
NM_001244710.2(GFPT1):c.1105+7A>T	2673	GFPT1	Likely benign	-1	RCV002814576;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69573029	69573029	NC_000002.11:g.69573029T>A	-
NM_001244710.2(GFPT1):c.1105+1G>A	2673	GFPT1	Likely pathogenic	1553389102	RCV000650359;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69573035	69573035	NC_000002.11:g.69573035C>T	ClinGen:CA347126168	C3552335 610542 Congenital myasthenic syndrome 12;
NM_001244710.2(GFPT1):c.1105G>A (p.Val369Met)	2673	GFPT1	Uncertain significance	-1	RCV002800172;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69573036	69573036	NC_000002.11:g.69573036C>T	-
NM_001244710.2(GFPT1):c.1103C>T (p.Thr368Ile)	2673	GFPT1	Uncertain significance	-1	RCV002634374;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69573038	69573038	NC_000002.11:g.69573038G>A	-
NM_001244710.2(GFPT1):c.1101T>C (p.Tyr367=)	2673	GFPT1	Likely benign	1458911769	RCV001397269;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69573040	69573040	69573040	-
NM_001244710.2(GFPT1):c.1096G>T (p.Asp366Tyr)	2673	GFPT1	Pathogenic	1574058076	RCV000022590;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69573045	69573045	2:g.69573045C>A	OMIM:138292.0004	C3552335 610542 Congenital myasthenic syndrome 12;
NM_001244710.2(GFPT1):c.1081A>C (p.Arg361=)	2673	GFPT1	Likely benign	2104631088	RCV001411172;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69573060	69573060	69573060	-
NM_001244710.2(GFPT1):c.1079G>A (p.Gly360Glu)	2673	GFPT1	Uncertain significance	-1	RCV003066270;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69573062	69573062	NC_000002.11:g.69573062C>T	-
NM_001244710.2(GFPT1):c.1041A>T (p.Ile347=)	2673	GFPT1	Likely benign	772941507	RCV000542983;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69573100	69573100	2:g.69573100T>A	ClinGen:CA1693717	C3552335 610542 Congenital myasthenic syndrome 12;
NM_001244710.2(GFPT1):c.1035G>A (p.Lys345=)	2673	GFPT1	Likely benign	373488949	RCV000532518;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69573106	69573106	2:g.69573106C>T	ClinGen:CA1693718	C3552335 610542 Congenital myasthenic syndrome 12;
NM_001244710.2(GFPT1):c.1010-10A>G	2673	GFPT1	Conflicting interpretations of pathogenicity	753072061	RCV000558773;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69573141	69573141	2:g.69573141T>C	ClinGen:CA1693722	C3552335 610542 Congenital myasthenic syndrome 12;
NM_001244710.2(GFPT1):c.1001T>A (p.Ile334Asn)	2673	GFPT1	Uncertain significance	1285177343	RCV001967018;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69575311	69575311	69575311	-
NM_001244710.2(GFPT1):c.982C>T (p.Gln328Ter)	2673	GFPT1	Pathogenic	1558749457	RCV000691983;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69575330	69575330	NC_000002.11:g.69575330G>A	-	C3552335 610542 Congenital myasthenic syndrome 12;
NM_001244710.2(GFPT1):c.964C>T (p.Arg322Ter)	2673	GFPT1	Pathogenic	375268742	RCV001065092;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69575348	69575348	2:g.69575348G>A	-
NM_001244710.2(GFPT1):c.960C>T (p.Pro320=)	2673	GFPT1	Likely benign	140814934	RCV001413929;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69575352	69575352	2:g.69575352G>A	-
NM_001244710.2(GFPT1):c.957C>T (p.His319=)	2673	GFPT1	Likely benign	1574060474	RCV001478725;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69575355	69575355	2:g.69575355G>A	-
NM_001244710.2(GFPT1):c.938A>G (p.Lys313Arg)	2673	GFPT1	Uncertain significance	-1	RCV002666685;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69575374	69575374	NC_000002.11:g.69575374T>C	-
NM_001244710.2(GFPT1):c.931C>T (p.Arg311Ter)	2673	GFPT1	Pathogenic	2104635880	RCV001382030;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69575381	69575381	69575381	-
NM_001244710.2(GFPT1):c.929A>T (p.His310Leu)	2673	GFPT1	Uncertain significance	1553389515	RCV000650362;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69575383	69575383	NC_000002.11:g.69575383T>A	ClinGen:CA347127876	C3552335 610542 Congenital myasthenic syndrome 12;
NM_001244710.2(GFPT1):c.911A>C (p.Asp304Ala)	2673	GFPT1	Uncertain significance	2104635949	RCV002007739;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69575401	69575401	69575401	-
NM_001244710.2(GFPT1):c.902C>T (p.Ala301Val)	2673	GFPT1	Uncertain significance	372840289	RCV000797085;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69575410	69575410	2:g.69575410G>A	-
NM_001244710.2(GFPT1):c.902C>G (p.Ala301Gly)	2673	GFPT1	Uncertain significance	372840289	RCV001334995;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69575410	69575410	69575410	-
NM_001244710.2(GFPT1):c.897T>C (p.Val299=)	2673	GFPT1	Likely benign	2104635977	RCV001454946;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69575415	69575415	69575415	-
NM_001244710.2(GFPT1):c.883G>A (p.Glu295Lys)	2673	GFPT1	Uncertain significance	764200601	RCV001221358;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69575429	69575429	2:g.69575429C>T	-
NM_001244710.2(GFPT1):c.870C>T (p.Arg290=)	2673	GFPT1	Likely benign	754486756	RCV000544971;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69575442	69575442	2:g.69575442G>A	ClinGen:CA1693747	C3552335 610542 Congenital myasthenic syndrome 12;
NM_001244710.2(GFPT1):c.846-13G>A	2673	GFPT1	Likely benign	-1	RCV002662520;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69575479	69575479	NC_000002.11:g.69575479C>T	-
NM_001244710.2(GFPT1):c.846-14T>C	2673	GFPT1	Likely benign	373534126	RCV002159617;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69575480	69575480	69575480	-
NM_001244710.2(GFPT1):c.846-17C>G	2673	GFPT1	Likely benign	-1	RCV002926848;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69575483	69575483	NC_000002.11:g.69575483G>C	-
NM_001244710.2(GFPT1):c.845+18A>C	2673	GFPT1	Likely benign	373520133	RCV002088535;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69577192	69577192	69577192	-
NM_001244710.2(GFPT1):c.845+7T>C	2673	GFPT1	Likely benign	371199882	RCV000946083;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69577203	69577203	2:g.69577203A>G	-
NM_001244710.2(GFPT1):c.845+6C>T	2673	GFPT1	Uncertain significance	767647134	RCV000530207;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69577204	69577204	2:g.69577204G>A	ClinGen:CA1693764	C3552335 610542 Congenital myasthenic syndrome 12;
NM_001244710.2(GFPT1):c.834T>C (p.Ala278=)	2673	GFPT1	Likely benign	-1	RCV003032808;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69577221	69577221		-
NM_001244710.2(GFPT1):c.806A>G (p.Glu269Gly)	2673	GFPT1	Uncertain significance	2104639027	RCV002011390;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69577249	69577249	69577249	-
NM_001244710.2(GFPT1):c.805G>A (p.Glu269Lys)	2673	GFPT1	Uncertain significance	536572222	RCV001245295;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69577250	69577250	2:g.69577250C>T	-
NM_001244710.2(GFPT1):c.801G>A (p.Pro267=)	2673	GFPT1	Likely benign	752515655	RCV001911259;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69577254	69577254	69577254	-
NM_001244710.2(GFPT1):c.769_772del (p.Ser257fs)	2673	GFPT1	Pathogenic	2104639109	RCV001950902;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69577283	69577286	69577282	-
NM_001244710.2(GFPT1):c.768C>T (p.Leu256=)	2673	GFPT1	Likely benign	141520017	RCV000915064;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69577287	69577287	2:g.69577287G>A	-
NM_001244710.2(GFPT1):c.740-7G>A	2673	GFPT1	Likely benign	1389698795	RCV000937357;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69577322	69577322	2:g.69577322C>T	-
NM_001244710.2(GFPT1):c.740-8T>C	2673	GFPT1	Uncertain significance	2104639173	RCV001965718;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69577323	69577323	69577323	-
NM_001244710.2(GFPT1):c.740-11A>G	2673	GFPT1	Uncertain significance	769311395	RCV002020598;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69577326	69577326	69577326	-
NM_001244710.2(GFPT1):c.740-16T>A	2673	GFPT1	Likely benign	749648987	RCV002109120;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69577331	69577331	69577331	-
NM_001244710.2(GFPT1):c.740-20A>G	2673	GFPT1	Likely benign	-1	RCV002959224;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69577335	69577335	NC_000002.11:g.69577335T>C	-
NM_001244710.2(GFPT1):c.739+19A>G	2673	GFPT1	Likely benign	1335194019	RCV002204756;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69581372	69581372	69581372	-
NM_001244710.2(GFPT1):c.739+11C>T	2673	GFPT1	Likely benign	576618872	RCV002212276;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69581380	69581380	69581380	-
NM_001244710.2(GFPT1):c.739+6A>G	2673	GFPT1	Likely benign	542110221	RCV001402776;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69581385	69581385	69581385	-
NM_001244710.2(GFPT1):c.728_729del (p.Gln243fs)	2673	GFPT1	Pathogenic	-1	RCV002631073;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69581401	69581402	NC_000002.11:g.69581401_69581402del	-
NM_001244710.2(GFPT1):c.719G>A (p.Trp240Ter)	2673	GFPT1	Pathogenic	1574066341	RCV000022589\|RCV001269982;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590\|MedGen:CN517202	2	69581411	69581411	2:g.69581411C>T	OMIM:138292.0003	C3552335 610542 Congenital myasthenic syndrome 12;
NM_001244710.2(GFPT1):c.716G>A (p.Arg239Gln)	2673	GFPT1	Uncertain significance	555854564	RCV001844546\|RCV002034726;	N	MedGen:CN169374\|MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69581414	69581414	69581414	-
NM_001244710.2(GFPT1):c.715C>T (p.Arg239Trp)	2673	GFPT1	Uncertain significance	779427303	RCV001956806;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69581415	69581415	69581415	-
NM_001244710.2(GFPT1):c.709T>G (p.Phe237Val)	2673	GFPT1	Uncertain significance	1463544616	RCV001990587;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69581421	69581421	69581421	-
NM_001244710.2(GFPT1):c.697A>G (p.Ile233Val)	2673	GFPT1	Uncertain significance	2104647589	RCV001902700;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69581433	69581433	69581433	-
NM_001244710.2(GFPT1):c.686dup (p.Ala229_Arg230insTer)	2673	GFPT1	Pathogenic	1380136176	RCV001386837;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69581443	69581444	69581443	-
NM_001244710.2(GFPT1):c.686-1G>A	2673	GFPT1	Pathogenic	2104647624	RCV001844351;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69581445	69581445	69581445	-
NM_001244710.2(GFPT1):c.686-2A>G	2673	GFPT1	Pathogenic	1011196447	RCV000650361\|RCV001836857\|RCV002260516\|RCV002507119\|RCV003334001\|RCV003392496;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590\|Human Phenotype Ontology:HP:0003011,Human Phenotype Ontology:HP:0003197,Human Phenotype Ontology:HP:0003708,MedGen:C4021745\|\|MONDO:MONDO:0012157,MedGen:C1837091,OMIM:608931,Orp	2	69581446	69581446	NC_000002.11:g.69581446T>C	ClinGen:CA49524691	C3552335 610542 Congenital myasthenic syndrome 12;
NM_001244710.2(GFPT1):c.686-8A>G	2673	GFPT1	Likely benign	747052866	RCV001445717;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69581452	69581452	69581452	-
NM_001244710.2(GFPT1):c.686-12G>A	2673	GFPT1	Likely benign	-1	RCV002953104;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69581456	69581456	NC_000002.11:g.69581456C>T	-
NM_001244710.2(GFPT1):c.685+18A>G	2673	GFPT1	Likely benign	-1	RCV002633280;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69581603	69581603	NC_000002.11:g.69581603T>C	-
NM_001244710.2(GFPT1):c.675C>T (p.Leu225=)	2673	GFPT1	Benign	78952091	RCV000117142\|RCV000556135;	N	MedGen:CN169374\|MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69581631	69581631	2:g.69581631G>A	ClinGen:CA152973	C3552335 610542 Congenital myasthenic syndrome 12;
NM_001244710.2(GFPT1):c.670A>G (p.Ile224Val)	2673	GFPT1	Uncertain significance	1489383761	RCV001067466;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69581636	69581636	2:g.69581636T>C	-
NM_001244710.2(GFPT1):c.669T>C (p.Pro223=)	2673	GFPT1	Likely benign	903308197	RCV002152279;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69581637	69581637	69581637	-
NM_001244710.2(GFPT1):c.655A>G (p.Thr219Ala)	2673	GFPT1	Uncertain significance	-1	RCV002766272;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69581651	69581651	NC_000002.11:g.69581651T>C	-
NM_001244710.2(GFPT1):c.652T>C (p.Ser218Pro)	2673	GFPT1	Uncertain significance	-1	RCV002862054;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69581654	69581654	NC_000002.11:g.69581654A>G	-
NM_001244710.2(GFPT1):c.649C>G (p.Leu217Val)	2673	GFPT1	Uncertain significance	2104648017	RCV001891548;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69581657	69581657	69581657	-
NM_001244710.2(GFPT1):c.644A>G (p.His215Arg)	2673	GFPT1	Uncertain significance	-1	RCV002649875;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69581662	69581662	NC_000002.11:g.69581662T>C	-
NM_001244710.2(GFPT1):c.642A>G (p.Glu214=)	2673	GFPT1	Likely benign	2104648039	RCV001432377;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69581664	69581664	69581664	-
NM_001244710.2(GFPT1):c.632T>A (p.Val211Glu)	2673	GFPT1	Uncertain significance	1671287962	RCV001049627;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69581674	69581674	2:g.69581674A>T	-
NM_001244710.2(GFPT1):c.621del (p.Leu207_Leu208insTer)	2673	GFPT1	Pathogenic	1574066599	RCV000022592;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69581685	69581685	NC_000002.11:g.69581685del	OMIM:138292.0006	C3552335 610542 Congenital myasthenic syndrome 12;
NM_001244710.2(GFPT1):c.611G>A (p.Gly204Asp)	2673	GFPT1	Uncertain significance	2104648108	RCV002269645\|RCV003096099;	N	MedGen:C3661900\|MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69581695	69581695	69581695	-
NM_001244710.2(GFPT1):c.606-3C>T	2673	GFPT1	Uncertain significance	1286081479	RCV000541443;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69581703	69581703	2:g.69581703G>A	ClinGen:CA658657038	C3552335 610542 Congenital myasthenic syndrome 12;
NM_001244710.2(GFPT1):c.606-19C>T	2673	GFPT1	Likely benign	-1	RCV003014796;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69581719	69581719	NC_000002.11:g.69581719G>A	-
NC_000002.11:g.(?_69583608)_(69583709_?)del	2673	GFPT1	Pathogenic	-1	RCV003105716;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69583608	69583709		-
NM_001244710.2(GFPT1):c.597T>C (p.Val199=)	2673	GFPT1	Likely benign	2104652107	RCV001394227;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69583636	69583636	69583636	-
NM_001244710.2(GFPT1):c.589C>G (p.Gln197Glu)	2673	GFPT1	Uncertain significance	773850508	RCV001350709;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69583644	69583644	69583644	-
NM_001244710.2(GFPT1):c.587G>A (p.Gly196Glu)	2673	GFPT1	Uncertain significance	-1	RCV002584198;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69583646	69583646	NC_000002.11:g.69583646C>T	-
NM_001244710.2(GFPT1):c.586G>A (p.Gly196Arg)	2673	GFPT1	Uncertain significance	370171865	RCV001960894;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69583647	69583647	69583647	-
NM_001244710.2(GFPT1):c.585C>T (p.Pro195=)	2673	GFPT1	Likely benign	764483590	RCV001502800;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69583648	69583648	69583648	-
NM_001244710.2(GFPT1):c.549T>C (p.Gly183=)	2673	GFPT1	Benign/Likely benign	144566433	RCV000502248\|RCV000650363\|RCV001704656;	N	MedGen:CN169374\|MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590\|MedGen:C3661900	2	69583684	69583684	2:g.69583684A>G	ClinGen:CA1693841	C3552335 610542 Congenital myasthenic syndrome 12;
NM_001244710.2(GFPT1):c.544-6C>T	2673	GFPT1	Likely benign	-1	RCV002610070;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69583695	69583695	NC_000002.11:g.69583695G>A	-
NM_001244710.2(GFPT1):c.544-11dup	2673	GFPT1	Benign	1242206987	RCV002129809;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69583699	69583700	69583699	-
NM_001244710.2(GFPT1):c.539A>T (p.Gln180Leu)	2673	GFPT1	Uncertain significance	1671390527	RCV001143582;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69585465	69585465	2:g.69585465T>A	-
NM_001244710.2(GFPT1):c.505A>G (p.Ser169Gly)	2673	GFPT1	Uncertain significance	2104655632	RCV001935864;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69585499	69585499	69585499	-
NM_001244710.2(GFPT1):c.491A>G (p.Glu164Gly)	2673	GFPT1	Uncertain significance	2104655675	RCV002044883;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69585513	69585513	69585513	-
NM_001244710.2(GFPT1):c.488G>A (p.Arg163Gln)	2673	GFPT1	Uncertain significance	1034928233	RCV002039019;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69585516	69585516	69585516	-
NM_001244710.2(GFPT1):c.487C>T (p.Arg163Trp)	2673	GFPT1	Uncertain significance	-1	RCV002891185\|RCV002891186;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590\|MeSH:D030342,MedGen:C0950123	2	69585517	69585517	NC_000002.11:g.69585517G>A	-
NM_001244710.2(GFPT1):c.484A>C (p.Asn162His)	2673	GFPT1	Uncertain significance	987906924	RCV001227099;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69585520	69585520	2:g.69585520T>G	-
NM_001244710.2(GFPT1):c.468T>G (p.Val156=)	2673	GFPT1	Likely benign	-1	RCV003108542;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69585536	69585536		-
NM_001244710.2(GFPT1):c.465C>T (p.Leu155=)	2673	GFPT1	Likely benign	759065498	RCV001488876;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69585539	69585539	2:g.69585539G>A	-
NM_001244710.2(GFPT1):c.461A>G (p.Lys154Arg)	2673	GFPT1	Uncertain significance	-1	RCV002918401;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69585543	69585543	NC_000002.11:g.69585543T>C	-
NM_001244710.2(GFPT1):c.459C>T (p.Ala153=)	2673	GFPT1	Likely benign	775046657	RCV002142977;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69585545	69585545	69585545	-
NM_001244710.2(GFPT1):c.452C>A (p.Thr151Lys)	2673	GFPT1	Pathogenic	1558761046	RCV000778064;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69585552	69585552	NC_000002.11:g.69585552G>T	OMIM:138292.0008
NM_001244710.2(GFPT1):c.429C>T (p.Phe143=)	2673	GFPT1	Likely benign	1207796251	RCV001451169;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69585575	69585575	2:g.69585575G>A	-
NM_001244710.2(GFPT1):c.420C>G (p.Gly140=)	2673	GFPT1	Likely benign	1671392979	RCV001244186\|RCV001531320;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590\|MedGen:C3661900	2	69585584	69585584	2:g.69585584G>C	-
NM_001244710.2(GFPT1):c.409-15del	2673	GFPT1	Benign	753279036	RCV002216608;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69585610	69585610	69585609	-
NM_001244710.2(GFPT1):c.408+30T>C	2673	GFPT1	Benign	67760762	RCV000252995\|RCV000841677\|RCV001701815;	N	MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69586370	69586370	NC_000002.11:g.69586370A>G	ClinGen:CA1693891	CN169374 not specified;
NM_001244710.2(GFPT1):c.408+19A>G	2673	GFPT1	Likely benign	201470680	RCV002105438;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69586381	69586381	69586381	-
NM_001244710.2(GFPT1):c.408+15C>T	2673	GFPT1	Likely benign	1357797263	RCV002196797;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69586385	69586385	69586385	-
NM_001244710.2(GFPT1):c.408+14C>T	2673	GFPT1	Likely benign	-1	RCV002573884;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69586386	69586386	NC_000002.11:g.69586386G>A	-
NM_001244710.2(GFPT1):c.408+12G>C	2673	GFPT1	Likely benign	-1	RCV002591041;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69586388	69586388	NC_000002.11:g.69586388C>G	-
NM_001244710.2(GFPT1):c.408+9G>A	2673	GFPT1	Likely benign	-1	RCV002881934;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69586391	69586391	NC_000002.11:g.69586391C>T	-
NM_001244710.2(GFPT1):c.408+7A>T	2673	GFPT1	Benign	112682152	RCV000252982\|RCV000711801\|RCV001080325;	N	MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69586393	69586393	NC_000002.11:g.69586393T>A	ClinGen:CA1693898	C3552335 610542 Congenital myasthenic syndrome 12;
NM_001244710.2(GFPT1):c.408+5G>A	2673	GFPT1	Likely pathogenic	1558762013	RCV000786068;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69586395	69586395	2:g.69586395C>T	-
NM_001244710.2(GFPT1):c.403T>G (p.Phe135Val)	2673	GFPT1	Uncertain significance	-1	RCV003025616;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69586405	69586405	NC_000002.11:g.69586405A>C	-
NM_001244710.2(GFPT1):c.398A>G (p.Lys133Arg)	2673	GFPT1	Likely pathogenic	-1	RCV003153126;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69586410	69586410		-
NM_001244710.2(GFPT1):c.396G>C (p.Leu132Phe)	2673	GFPT1	Uncertain significance	-1	RCV002654354;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69586412	69586412	NC_000002.11:g.69586412C>G	-
NM_001244710.2(GFPT1):c.387C>T (p.Tyr129=)	2673	GFPT1	Likely benign	761321362	RCV002086079;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69586421	69586421	69586421	-
NM_001244710.2(GFPT1):c.368A>G (p.Asn123Ser)	2673	GFPT1	Uncertain significance	1671414273	RCV001202723;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69586440	69586440	2:g.69586440T>C	-
NM_001244710.2(GFPT1):c.362T>C (p.Ile121Thr)	2673	GFPT1	Uncertain significance	753866967	RCV000799974;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69586446	69586446	2:g.69586446A>G	-
NM_001244710.2(GFPT1):c.351A>G (p.Glu117=)	2673	GFPT1	Likely benign	-1	RCV002907863;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69586457	69586457		-
NM_001244710.2(GFPT1):c.350-4_350-3del	2673	GFPT1	Likely benign	-1	RCV002595124;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69586461	69586462	NC_000002.11:g.69586463_69586464del	-
NM_001244710.2(GFPT1):c.350-3T>C	2673	GFPT1	Uncertain significance	-1	RCV002637749;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69586461	69586461	NC_000002.11:g.69586461A>G	-
NM_001244710.2(GFPT1):c.349+17dup	2673	GFPT1	Benign	780939646	RCV002118122;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69590659	69590660	69590659	-
NC_000002.12:g.(?_69363535)_(69363680_?)del	2673	GFPT1	Likely pathogenic	-1	RCV001033810;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69590667	69590812	-1	-
NM_001244710.2(GFPT1):c.338A>G (p.Asp113Gly)	2673	GFPT1	Uncertain significance	539052842	RCV001035094;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69590688	69590688	2:g.69590688T>C	-
NM_001244710.2(GFPT1):c.332G>A (p.Arg111His)	2673	GFPT1	Pathogenic/Likely pathogenic	189717232	RCV001386293;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69590694	69590694	69590694	-
NM_001244710.2(GFPT1):c.331C>T (p.Arg111Cys)	2673	GFPT1	Pathogenic/Likely pathogenic	201322234	RCV000022587\|RCV001090973;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590\|MedGen:C3661900	2	69590695	69590695	2:g.69590695G>A	ClinGen:CA128605,UniProtKB:Q06210#VAR_065342,OMIM:138292.0001	C3552335 610542 Congenital myasthenic syndrome 12;
NM_001244710.2(GFPT1):c.330_331delinsAG (p.Arg111Gly)	2673	GFPT1	Uncertain significance	1671532532	RCV001239020;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69590695	69590696	NC_000002.11:g.69590695_69590696delinsCT	-
NM_001244710.2(GFPT1):c.329A>G (p.Gln110Arg)	2673	GFPT1	Uncertain significance	886056261	RCV000344683;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69590697	69590697	2:g.69590697T>C	ClinGen:CA10613865	CN239337 Congenital Myasthenic Syndrome, Recessive;
NM_001244710.2(GFPT1):c.327C>T (p.Pro109=)	2673	GFPT1	Conflicting interpretations of pathogenicity	537066687	RCV001143583;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69590699	69590699	2:g.69590699G>A	-
NM_001244710.2(GFPT1):c.314T>G (p.Val105Gly)	2673	GFPT1	Uncertain significance	929836832	RCV001508079\|RCV002564227;	N	MedGen:C3661900\|MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69590712	69590712	69590712	-
NM_001244710.2(GFPT1):c.306C>G (p.Pro102=)	2673	GFPT1	Likely benign	763230648	RCV002131533;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69590720	69590720	69590720	-
NM_001244710.2(GFPT1):c.305C>A (p.Pro102His)	2673	GFPT1	Uncertain significance	1574074621	RCV000799053;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69590721	69590721	2:g.69590721G>T	-
NM_001244710.2(GFPT1):c.305C>G (p.Pro102Arg)	2673	GFPT1	Uncertain significance	1574074621	RCV001365669;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69590721	69590721	69590721	-
NM_001244710.2(GFPT1):c.283C>T (p.Arg95Cys)	2673	GFPT1	Uncertain significance	-1	RCV002714939;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69590743	69590743	NC_000002.11:g.69590743G>A	-
NM_001244710.2(GFPT1):c.275C>G (p.Ala92Gly)	2673	GFPT1	Uncertain significance	755890938	RCV002018335\|RCV002548224;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590\|MeSH:D030342,MedGen:C0950123	2	69590751	69590751	69590751	-
NM_001244710.2(GFPT1):c.247A>G (p.Ile83Val)	2673	GFPT1	Uncertain significance	-1	RCV002923323;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69590779	69590779	NC_000002.11:g.69590779T>C	-
NM_001244710.2(GFPT1):c.245A>G (p.Asp82Gly)	2673	GFPT1	Uncertain significance	192925673	RCV001246183;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69590781	69590781	2:g.69590781T>C	-
NM_001244710.2(GFPT1):c.239A>G (p.Asp80Gly)	2673	GFPT1	Uncertain significance	1671535131	RCV001245120;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69590787	69590787	2:g.69590787T>C	-
NM_001244710.2(GFPT1):c.236T>C (p.Met79Thr)	2673	GFPT1	Uncertain significance	142871135	RCV001888608\|RCV002552240;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590\|MeSH:D030342,MedGen:C0950123	2	69590790	69590790	69590790	-
NM_001244710.2(GFPT1):c.229C>A (p.Gln77Lys)	2673	GFPT1	Uncertain significance	143036820	RCV001984454;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69590797	69590797	69590797	-
NM_001244710.2(GFPT1):c.228A>G (p.Gln76=)	2673	GFPT1	Likely benign	-1	RCV002742044;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69590798	69590798		-
NM_001244710.2(GFPT1):c.224dup (p.Gln76fs)	2673	GFPT1	Pathogenic	1671535986	RCV000022588;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69590801	69590802	NC_000002.11:g.69590802dup	OMIM:138292.0002	C3552335 610542 Congenital myasthenic syndrome 12;
NM_001244710.2(GFPT1):c.224-9A>G	2673	GFPT1	Likely benign	1207347337	RCV002155387;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69590811	69590811	69590811	-
NM_001244710.2(GFPT1):c.224-10T>C	2673	GFPT1	Conflicting interpretations of pathogenicity	777508704	RCV000542203;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69590812	69590812	2:g.69590812A>G	ClinGen:CA1693938	C3552335 610542 Congenital myasthenic syndrome 12;
NM_001244710.2(GFPT1):c.224-11A>G	2673	GFPT1	Likely benign	-1	RCV003071554;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69590813	69590813	NC_000002.11:g.69590813T>C	-
NM_001244710.2(GFPT1):c.224-12C>T	2673	GFPT1	Conflicting interpretations of pathogenicity	375455794	RCV000385253\|RCV001547297;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590\|MedGen:C3661900	2	69590814	69590814	2:g.69590814G>A	ClinGen:CA1693940	CN239337 Congenital Myasthenic Syndrome, Recessive;
NM_001244710.2(GFPT1):c.223+19T>C	2673	GFPT1	Likely benign	532780798	RCV002099941;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69597114	69597114	69597114	-
NC_000002.11:g.(?_69597123)_(69597250_?)del	2673	GFPT1	Uncertain significance	-1	RCV001295325;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69597123	69597250	-1	-
NM_001244710.2(GFPT1):c.223+6G>A	2673	GFPT1	Uncertain significance	1295165260	RCV002247860\|RCV003093976;	N	MedGen:CN169374\|MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69597127	69597127	69597127	-
NM_001244710.2(GFPT1):c.223+5C>T	2673	GFPT1	Benign/Likely benign	200631666	RCV000518558\|RCV000874644;	N	MedGen:CN169374\|MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69597128	69597128	2:g.69597128G>A	ClinGen:CA1693952	CN239337 Congenital Myasthenic Syndrome, Recessive;
NM_001244710.2(GFPT1):c.221A>C (p.His74Pro)	2673	GFPT1	Uncertain significance	1671705543	RCV001351718;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69597135	69597135	69597135	-
NM_001244710.2(GFPT1):c.209A>G (p.Asp70Gly)	2673	GFPT1	Conflicting interpretations of pathogenicity	530830788	RCV000650360\|RCV003372790;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590\|MeSH:D030342,MedGen:C0950123	2	69597147	69597147	2:g.69597147T>C	ClinGen:CA1693957	C3552335 610542 Congenital myasthenic syndrome 12;
NM_001244710.2(GFPT1):c.197_201del (p.Val66fs)	2673	GFPT1	Pathogenic	1558773839	RCV000707512;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69597155	69597159	NC_000002.11:g.69597158_69597162del	-	C3552335 610542 Congenital myasthenic syndrome 12;
NM_001244710.2(GFPT1):c.134_154dup (p.Gly45_Glu51dup)	2673	GFPT1	Uncertain significance	1558773904	RCV000693189;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69597201	69597202	NC_000002.11:g.69597204_69597224dup	-	C3552335 610542 Congenital myasthenic syndrome 12;
NM_001244710.2(GFPT1):c.147T>C (p.Asp49=)	2673	GFPT1	Benign	2230300	RCV000117141\|RCV000559808;	N	MedGen:CN169374\|MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69597209	69597209	2:g.69597209A>G	ClinGen:CA152969	C3552335 610542 Congenital myasthenic syndrome 12;
NM_001244710.2(GFPT1):c.145G>T (p.Asp49Tyr)	2673	GFPT1	Uncertain significance	-1	RCV003092339;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69597211	69597211	NC_000002.11:g.69597211C>A	-
NM_001244710.2(GFPT1):c.137A>G (p.Asn46Ser)	2673	GFPT1	Uncertain significance	-1	RCV003091214\|RCV003274219;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590\|MeSH:D030342,MedGen:C0950123	2	69597219	69597219	NC_000002.11:g.69597219T>C	-
NM_001244710.2(GFPT1):c.134G>A (p.Gly45Asp)	2673	GFPT1	Uncertain significance	-1	RCV003448879;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69597222	69597222		-
NM_001244710.2(GFPT1):c.133G>A (p.Gly45Ser)	2673	GFPT1	Uncertain significance	914867145	RCV001219666;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69597223	69597223	2:g.69597223C>T	-
NM_001244710.2(GFPT1):c.126T>C (p.Phe42=)	2673	GFPT1	Likely benign	1574080849	RCV000981584;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69597230	69597230	2:g.69597230A>G	-
NM_001244710.2(GFPT1):c.124T>G (p.Phe42Val)	2673	GFPT1	Uncertain significance	948398303	RCV001236869;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69597232	69597232	2:g.69597232A>C	-
NM_001244710.2(GFPT1):c.118G>T (p.Val40Leu)	2673	GFPT1	Uncertain significance	1247230551	RCV000812134;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69597238	69597238	2:g.69597238C>A	-
NM_001244710.2(GFPT1):c.116-6G>C	2673	GFPT1	Likely benign	762154144	RCV001401686;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69597246	69597246	69597246	-
NM_001244710.2(GFPT1):c.116-6G>A	2673	GFPT1	Likely benign	762154144	RCV002191879;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69597246	69597246	69597246	-
NM_001244710.2(GFPT1):c.116-12A>G	2673	GFPT1	Benign/Likely benign	540758570	RCV000251854\|RCV001137009;	N	MedGen:CN169374\|MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69597252	69597252	2:g.69597252T>C	ClinGen:CA1693968	CN169374 not specified;
NM_001244710.2(GFPT1):c.115+20A>G	2673	GFPT1	Likely benign	-1	RCV002658978;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69601118	69601118	NC_000002.11:g.69601118T>C	-
NM_001244710.2(GFPT1):c.115+17A>G	2673	GFPT1	Likely benign	-1	RCV002886384;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69601121	69601121	NC_000002.11:g.69601121T>C	-
NM_001244710.2(GFPT1):c.115+15dup	2673	GFPT1	Benign	758929556	RCV002116173;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69601122	69601123	69601122	-
NM_001244710.2(GFPT1):c.115+15A>G	2673	GFPT1	Likely benign	1401182899	RCV002112834;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69601123	69601123	69601123	-
NM_001244710.2(GFPT1):c.115G>A (p.Gly39Ser)	2673	GFPT1	Uncertain significance	1671812593	RCV001213939;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69601138	69601138	2:g.69601138C>T	-
NM_001244710.2(GFPT1):c.107A>G (p.Asp36Gly)	2673	GFPT1	Uncertain significance	-1	RCV002820357;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69601146	69601146	NC_000002.11:g.69601146T>C	-
NM_001244710.2(GFPT1):c.99A>G (p.Arg33=)	2673	GFPT1	Likely benign	146463758	RCV002218263;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69601154	69601154	69601154	-
NM_001244710.2(GFPT1):c.93G>C (p.Glu31Asp)	2673	GFPT1	Uncertain significance	1671813015	RCV001997498;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69601160	69601160	69601160	-
NM_001244710.2(GFPT1):c.89_90del (p.Leu30fs)	2673	GFPT1	Pathogenic	1671813157	RCV001037299;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69601163	69601164	2:g.69601163_69601164del	-
NM_001244710.2(GFPT1):c.57C>T (p.Ile19=)	2673	GFPT1	Likely benign	759431850	RCV001441204;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69601196	69601196	69601196	-
NM_001244710.2(GFPT1):c.54A>G (p.Glu18=)	2673	GFPT1	Likely benign	199770054	RCV001429593;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69601199	69601199	69601199	-
NM_001244710.2(GFPT1):c.50G>A (p.Arg17Gln)	2673	GFPT1	Uncertain significance	775399768	RCV000786069\|RCV002265872;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590\|MedGen:CN169374	2	69601203	69601203	2:g.69601203C>T	-
NM_001244710.2(GFPT1):c.45G>A (p.Thr15=)	2673	GFPT1	Likely benign	763874345	RCV002082257\|RCV003426335;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590\|MedGen:C3661900	2	69601208	69601208	69601208	-
NM_001244710.2(GFPT1):c.44C>T (p.Thr15Met)	2673	GFPT1	Pathogenic/Likely pathogenic	751097758	RCV001378308\|RCV003331142;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590\|MONDO:MONDO:0018940,MeSH:D020294,MedGen:C0751882,OMIM:PS601462, Orphanet:590	2	69601209	69601209	69601209	-
NM_001244710.2(GFPT1):c.43A>G (p.Thr15Ala)	2673	GFPT1	Pathogenic	387906638	RCV000022591;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69601210	69601210	2:g.69601210T>C	ClinGen:CA128607,UniProtKB:Q06210#VAR_065339,OMIM:138292.0005	C3552335 610542 Congenital myasthenic syndrome 12;
NM_001244710.2(GFPT1):c.41G>T (p.Arg14Leu)	2673	GFPT1	Pathogenic	922548333	RCV000778063;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69601212	69601212	NC_000002.11:g.69601212C>A	OMIM:138292.0007
NM_001244710.2(GFPT1):c.29A>G (p.Tyr10Cys)	2673	GFPT1	Uncertain significance	1553393940	RCV000552714;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69601224	69601224	NC_000002.11:g.69601224T>C	ClinGen:CA347135139	C3552335 610542 Congenital myasthenic syndrome 12;
NM_001244710.2(GFPT1):c.7+36T>C	2673	GFPT1	Benign	6720415	RCV000253707\|RCV000841161\|RCV001519182;	N	MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69614161	69614161	NC_000002.11:g.69614161A>G	ClinGen:CA1694014	CN169374 not specified;
NM_001244710.2(GFPT1):c.7+20G>T	2673	GFPT1	Likely benign	373299682	RCV002108473;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69614177	69614177	69614177	-
NM_001244710.2(GFPT1):c.6T>G (p.Cys2Trp)	2673	GFPT1	Uncertain significance	1164347284	RCV001061327;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69614198	69614198	2:g.69614198A>C	-
NM_001244710.2(GFPT1):c.-32C>T	2673	GFPT1	Uncertain significance	771295091	RCV001137010;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69614235	69614235	2:g.69614235G>A	-
NM_001244710.2(GFPT1):c.-34C>T	2673	GFPT1	Uncertain significance	886056262	RCV000405804;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69614237	69614237	2:g.69614237G>A	ClinGen:CA10613866	CN239337 Congenital Myasthenic Syndrome, Recessive;
NM_001244710.2(GFPT1):c.-80T>C	2673	GFPT1	Uncertain significance	568491194	RCV001137011;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69614283	69614283	2:g.69614283A>G	-
NM_001244710.2(GFPT1):c.-125C>T	2673	GFPT1	Uncertain significance	886056263	RCV000314470;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69614328	69614328	2:g.69614328G>A	ClinGen:CA10614312	CN239337 Congenital Myasthenic Syndrome, Recessive;
NM_001244710.2(GFPT1):c.-143G>T	2673	GFPT1	Uncertain significance	886056264	RCV000350649;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69614346	69614346	2:g.69614346C>A	ClinGen:CA10613869	CN239337 Congenital Myasthenic Syndrome, Recessive;
NM_001244710.2(GFPT1):c.-153G>A	2673	GFPT1	Uncertain significance	886056265	RCV000405512;	N	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	2	69614356	69614356	2:g.69614356C>T	ClinGen:CA10616058	CN239337 Congenital Myasthenic Syndrome, Recessive;
NM_000540.3(RYR1):c.9796A>C (p.Met3266Leu)	6261	RYR1	Conflicting interpretations of pathogenicity	201588259	RCV000557021\|RCV001093152\|RCV002289773;	N	MedGen:CN239331\|MedGen:C3661900\|MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542, Orphanet:353327, Orphanet:590	19	39008109	39008109	NC_000019.9:g.39008109A>C	ClinGen:CA074157	CN239331 RYR1-Related Disorders;

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