MSeqDR Mitochondrial disease browser phenotype pathogenic gene and mutation portal

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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: Craniofacial Abnormalities (D019465)
Parent Node: Myasthenic Syndromes, Congenital (D020294)
..Starting node ..Myasthenic Syndrome, Congenital, with Facial Dysmorphism, associated with Acetylcholine Receptor Deficiency (C563829)
Child Nodes:
Sister 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)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:

8389

Name:

Myasthenic Syndrome, Congenital, with Facial Dysmorphism, associated with Acetylcholine Receptor Deficiency

Definition:

Alternative IDs:

OMIM:616314|OMIM:616323|OMIM:616325|OMIM:616326

ParentIDs:

MESH:D019465|MESH:D020294

TreeNumbers:

C05.660.207/C563829 |C10.668.758.800/C563829 |C16.131.621.207/C563829 |C16.320.590/C563829

Synonyms:

Slim Mappings:

Congenital abnormality|Genetic disease (inborn)|Musculoskeletal disease|Nervous system disease

Reference:

MedGen: C563829
MeSH: C563829
OMIM: 616326;
MSeqDR :
Genes:

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0003577	Congenital onset
3	HP:0002804	Arthrogryposis multiplex congenita	HP:0040283
4	HP:0001558	Decreased fetal movement
5	HP:0003388	Easy fatigability
6	HP:0011968	Feeding difficulties
7	HP:0003391	Gowers sign
8	HP:0000218	High palate
9	HP:0000276	Long face
10	HP:0001319	Neonatal hypotonia NAMDC: Floppy baby
11	HP:0000508	Ptosis NAMDC: Ptosis
12	HP:0002093	Respiratory insufficiency

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_g	OtherIDs	Disease_ClinVar
NC_000011.9:g.(?_46880534)_(47470516_?)del	5913	RAPSN	Pathogenic	-1	RCV001982909;	N	Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994; MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590	11	46880534	47470516	-1	-
NC_000011.9:g.(?_47431646)_(47470726_?)dup	5913	RAPSN	Uncertain significance	-1	RCV001997008;	N	Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994; MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590	11	47431646	47470726	-1	-
NM_005055.5(RAPSN):c.*211G>A	5913	RAPSN	Uncertain significance	542424704	RCV000267145\|RCV000361798;	N	Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994\|MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590	11	47459315	47459315	NC_000011.9:g.47459315C>T	ClinGen:CA5976436	CN239337 Congenital Myasthenic Syndrome, Recessive;
NM_005055.5(RAPSN):c.*207C>A	5913	RAPSN	Benign/Likely benign	73459751	RCV000322150\|RCV000376821\|RCV001580481;	N	Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994\|MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590\|MedGen:C3661900	11	47459319	47459319	NC_000011.9:g.47459319G>T	ClinGen:CA5976437	CN239337 Congenital Myasthenic Syndrome, Recessive;
NM_005055.5(RAPSN):c.*80G>C	5913	RAPSN	Uncertain significance	886048385	RCV000261906\|RCV000317107;	N	MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590\|Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994	11	47459446	47459446	NC_000011.9:g.47459446C>G	ClinGen:CA10639353	CN239337 Congenital Myasthenic Syndrome, Recessive;
NM_005055.5(RAPSN):c.*57C>T	5913	RAPSN	Benign	45617144	RCV000296062\|RCV000371823\|RCV001618534\|RCV001537995;	N	MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590\|Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994\|MedGen:C3661900\|MONDO:MONDO:0100102,MedGen:C4760576,OMIM:618388	11	47459469	47459469	NC_000011.9:g.47459469G>A	ClinGen:CA5976449	CN239337 Congenital Myasthenic Syndrome, Recessive;
NC_000011.10:g.(?_47437955)_(47438951_?)del	5913	RAPSN	Pathogenic	-1	RCV000653222;	N	Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994; MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590	11	47459506	47460502		-	C4225367 616326 Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency;
NM_005055.5(RAPSN):c.*16G>A	5913	RAPSN	Uncertain significance	886048386	RCV000351011\|RCV000386916;	N	Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994\|MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590	11	47459510	47459510	NC_000011.9:g.47459510C>T	ClinGen:CA10639354	CN239337 Congenital Myasthenic Syndrome, Recessive;
NC_000011.10:g.(?_47437965)_(47438941_?)del	5913	RAPSN	Pathogenic	-1	RCV001033452;	N	MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994	11	47459516	47460492	-1	-
NC_000011.9:g.(?_47459516)_(47459608_?)del	5913	RAPSN	Pathogenic	-1	RCV003116299;	N	Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994; MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590	11	47459516	47459608		-
GRCh37/hg19 11p11.2(chr11:47459526-47460482)	5913	RAPSN	Likely pathogenic	-1	RCV003236715;	N	MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590	11	47459526	47460482		-
NM_005055.5(RAPSN):c.1236A>G (p.Val412=)	5913	RAPSN	Likely benign	-1	RCV002578520;	N	MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994	11	47459529	47459529		-
NM_005055.5(RAPSN):c.1221G>A (p.Met407Ile)	5913	RAPSN	Uncertain significance	1272838959	RCV001278477\|RCV002493479\|RCV003294175;	N	MONDO:MONDO:0018940,MeSH:D020294,MedGen:C0751882,OMIM:PS601462, Orphanet:590\|MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; MONDO:MONDO:0100102,MedGen:C4760576,OMIM:618388\|MeSH:D030342,MedGen:C0950123	11	47459544	47459544	11:g.47459544C>T	-
NM_005055.5(RAPSN):c.1216T>A (p.Ser406Thr)	5913	RAPSN	Uncertain significance	1486159580	RCV001911714;	N	Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994; MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590	11	47459549	47459549	47459549	-
NM_005055.5(RAPSN):c.1212C>T (p.Arg404=)	5913	RAPSN	Conflicting interpretations of pathogenicity	2076326463	RCV001103491\|RCV001103492\|RCV001414396;	N	Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994\|MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590\|Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:99	11	47459553	47459553	11:g.47459553G>A	-
NM_005055.5(RAPSN):c.1210C>T (p.Arg404Cys)	5913	RAPSN	Uncertain significance	-1	RCV002600712;	N	MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994	11	47459555	47459555	NC_000011.9:g.47459555G>A	-
NM_005055.5(RAPSN):c.1207C>T (p.Arg403Cys)	5913	RAPSN	Uncertain significance	1165174416	RCV001939196;	N	Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994; MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590	11	47459558	47459558	47459558	-
NM_005055.5(RAPSN):c.1203C>T (p.Asn401=)	5913	RAPSN	Conflicting interpretations of pathogenicity	757215612	RCV000400669\|RCV001082882\|RCV001275239;	N	MedGen:C3661900\|Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994; MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590\|MONDO:MONDO:0018940,MeSH:D020294,MedGen:C0751882,OMIM:PS601462, Orphanet:590	11	47459562	47459562	11:g.47459562G>A	ClinGen:CA10605108	CN169374 not specified;
NM_005055.5(RAPSN):c.1194C>T (p.Ser398=)	5913	RAPSN	Likely benign	1013183854	RCV002088932;	N	Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994; MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590	11	47459571	47459571	47459571	-
NM_005055.5(RAPSN):c.1190G>A (p.Arg397Gln)	5913	RAPSN	Conflicting interpretations of pathogenicity	139398367	RCV000950989\|RCV001103493\|RCV001103494\|RCV001274399\|RCV001772173\|RCV002546024;	N	MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994\|Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:99	11	47459575	47459575	11:g.47459575C>T	-
NM_005055.5(RAPSN):c.1189C>T (p.Arg397Trp)	5913	RAPSN	Likely benign	201796294	RCV000533315\|RCV001834811;	N	MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994\|MONDO:MONDO:0018940,MeSH:D020294,MedGen:C0751882,OMIM:PS601462, Orphanet:590	11	47459576	47459576	11:g.47459576G>A	ClinGen:CA5976455	C4225367 616326 Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency;
NM_005055.5(RAPSN):c.1185del (p.Thr396fs)	5913	RAPSN	Pathogenic	2153306243	RCV001956321;	N	Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994; MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590	11	47459580	47459580	47459579	-
NM_005055.5(RAPSN):c.1183G>A (p.Gly395Arg)	5913	RAPSN	Uncertain significance	768882267	RCV001244496\|RCV001829932\|RCV002568591;	N	Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994; MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590\|MONDO:MONDO:0018940,MeSH:D020294,MedGen:C0751882,OMIM:PS601462, Orphanet:590\|MeSH:D030342,MedGen	11	47459582	47459582	11:g.47459582C>T	-
NM_005055.5(RAPSN):c.1183G>T (p.Gly395Trp)	5913	RAPSN	Uncertain significance	-1	RCV003078314;	N	MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994	11	47459582	47459582	NC_000011.9:g.47459582C>A	-
NM_005055.5(RAPSN):c.1182C>T (p.Asn394=)	5913	RAPSN	Likely benign	530896580	RCV001411264;	N	Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994; MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590	11	47459583	47459583	47459583	-
NM_005055.5(RAPSN):c.1181A>G (p.Asn394Ser)	5913	RAPSN	Uncertain significance	370123138	RCV000552477\|RCV001829598\|RCV003133355;	N	MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994\|MONDO:MONDO:0018940,MeSH:D020294,MedGen:C0751882,OMIM:PS601462, Orphanet:590\|MedGen:CN517202	11	47459584	47459584	11:g.47459584T>C	ClinGen:CA5976460	C4225367 616326 Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency;
NM_005055.5(RAPSN):c.1180A>C (p.Asn394His)	5913	RAPSN	Uncertain significance	762532220	RCV000816665\|RCV001275240;	N	Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994; MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590\|MONDO:MONDO:0018940,MeSH:D020294,MedGen:C0751882,OMIM:PS601462, Orphanet:590	11	47459585	47459585	11:g.47459585T>G	-
NM_005055.5(RAPSN):c.1177_1178del (p.Asn393fs)	5913	RAPSN	Pathogenic	1555142142	RCV000657250\|RCV001275241\|RCV001861675\|RCV002280819\|RCV002280820\|RCV002485489;	N	MedGen:C3661900\|MONDO:MONDO:0018940,MeSH:D020294,MedGen:C0751882,OMIM:PS601462, Orphanet:590\|MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994\|MON	11	47459587	47459588	11:g.47459587_47459588del	OMIM:601592.0012	CN517202 not provided;
NM_005055.5(RAPSN):c.1176G>A (p.Gln392=)	5913	RAPSN	Likely benign	1353799875	RCV001446390;	N	Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994; MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590	11	47459589	47459589	47459589	-
NM_005055.5(RAPSN):c.1171C>T (p.Leu391=)	5913	RAPSN	Likely benign	-1	RCV003067590;	N	MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994	11	47459594	47459594		-
NM_005055.5(RAPSN):c.1170C>T (p.Cys390=)	5913	RAPSN	Likely benign	2153306281	RCV001422288;	N	MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994	11	47459595	47459595	47459595	-
NM_005055.5(RAPSN):c.1168del (p.Cys390fs)	5913	RAPSN	Pathogenic	-1	RCV002976462;	N	MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994	11	47459597	47459597	NC_000011.9:g.47459597del	-
NM_005055.5(RAPSN):c.1167-8C>T	5913	RAPSN	Likely benign	-1	RCV002602652;	N	Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994; MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590	11	47459606	47459606	NC_000011.9:g.47459606G>A	-
NM_005055.5(RAPSN):c.1167-9C>T	5913	RAPSN	Likely benign	-1	RCV002815553;	N	MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994	11	47459607	47459607	NC_000011.9:g.47459607G>A	-
NM_005055.5(RAPSN):c.1167-17G>A	5913	RAPSN	Likely benign	770347768	RCV002153443;	N	Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994; MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590	11	47459615	47459615	47459615	-
NM_005055.5(RAPSN):c.1166+19del	5913	RAPSN	Benign	760797252	RCV002214634;	N	Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994; MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590	11	47460264	47460264	47460263	-
NM_005055.5(RAPSN):c.1166+18G>A	5913	RAPSN	Likely benign	536788411	RCV002098094;	N	MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994	11	47460265	47460265	47460265	-
NM_005055.5(RAPSN):c.1166+17G>A	5913	RAPSN	Likely benign	-1	RCV002594694;	N	MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994	11	47460266	47460266	NC_000011.9:g.47460266C>T	-
NM_005055.5(RAPSN):c.1166+16G>A	5913	RAPSN	Likely benign	377580268	RCV002108626;	N	MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994	11	47460267	47460267	47460267	-
NM_005055.5(RAPSN):c.1166+15G>C	5913	RAPSN	Likely benign	556595562	RCV001956614;	N	MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994	11	47460268	47460268	47460268	-
NM_005055.5(RAPSN):c.1166+15G>A	5913	RAPSN	Likely benign	556595562	RCV002184792;	N	Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994; MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590	11	47460268	47460268	47460268	-
NM_005055.5(RAPSN):c.1166+15G>T	5913	RAPSN	Likely benign	-1	RCV002918324;	N	MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994	11	47460268	47460268	NC_000011.9:g.47460268C>A	-
NM_005055.5(RAPSN):c.1166+14G>C	5913	RAPSN	Likely benign	-1	RCV002958183;	N	MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994	11	47460269	47460269	NC_000011.9:g.47460269C>G	-
NM_005055.5(RAPSN):c.1166+13G>C	5913	RAPSN	Likely benign	745720985	RCV002141698;	N	MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994	11	47460270	47460270	47460270	-
NM_005055.5(RAPSN):c.1166+13G>T	5913	RAPSN	Likely benign	-1	RCV002903648;	N	MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994	11	47460270	47460270	NC_000011.9:g.47460270C>A	-
NM_005055.5(RAPSN):c.1166+10C>T	5913	RAPSN	Likely benign	-1	RCV003083961;	N	MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994	11	47460273	47460273	NC_000011.9:g.47460273G>A	-
NC_000011.9:g.(?_47460273)_(47460492_?)del	5913	RAPSN	Pathogenic	-1	RCV003116298;	N	Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994; MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590	11	47460273	47460492		-
NM_005055.5(RAPSN):c.1166+7G>T	5913	RAPSN	Likely benign	1395269562	RCV002187243;	N	Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994; MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590	11	47460276	47460276	47460276	-
NM_005055.5(RAPSN):c.1166+7G>A	5913	RAPSN	Likely benign	-1	RCV002624609;	N	MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994	11	47460276	47460276	NC_000011.9:g.47460276C>T	-
NM_005055.5(RAPSN):c.1166+2T>G	5913	RAPSN	Pathogenic	-1	RCV003091624;	N	MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994	11	47460281	47460281	NC_000011.9:g.47460281A>C	-
NM_005055.5(RAPSN):c.1166+1G>C	5913	RAPSN	Pathogenic	-1	RCV003079119;	N	MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994	11	47460282	47460282	NC_000011.9:g.47460282C>G	-
NM_005055.5(RAPSN):c.1166+1G>T	5913	RAPSN	Pathogenic	-1	RCV003121739;	N	Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994; MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590	11	47460282	47460282	NC_000011.9:g.47460282C>A	-
NM_005055.5(RAPSN):c.1165A>C (p.Arg389=)	5913	RAPSN	Uncertain significance	-1	RCV002999124;	N	MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994	11	47460284	47460284		-
NM_005055.5(RAPSN):c.1155C>T (p.Ile385=)	5913	RAPSN	Likely benign	1368702539	RCV002210525;	N	Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994; MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590	11	47460294	47460294	47460294	-
NM_005055.5(RAPSN):c.1152C>A (p.His384Gln)	5913	RAPSN	Uncertain significance	-1	RCV003050187;	N	MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994	11	47460297	47460297	NC_000011.9:g.47460297G>T	-
NM_005055.5(RAPSN):c.1149C>T (p.Ser383=)	5913	RAPSN	Likely benign	765481657	RCV002104093;	N	MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994	11	47460300	47460300	47460300	-
NM_005055.5(RAPSN):c.1148C>G (p.Ser383Cys)	5913	RAPSN	Uncertain significance	1197895855	RCV000819394;	N	Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994; MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590	11	47460301	47460301	11:g.47460301G>C	-
NM_005055.5(RAPSN):c.1143T>C (p.Pro381=)	5913	RAPSN	Benign	7126210	RCV000118117\|RCV000292191\|RCV000347078\|RCV001275242\|RCV001537996\|RCV001520680;	N	MedGen:CN169374\|MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590\|Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994\|MONDO:MONDO:0018940,MeSH:D020294,MedGen:C0751882,OMIM:PS601462, Orphanet:590\|MON	11	47460306	47460306	11:g.47460306A>G	ClinGen:CA154872	CN239337 Congenital Myasthenic Syndrome, Recessive;
NM_005055.5(RAPSN):c.1140A>C (p.Leu380=)	5913	RAPSN	Likely benign	-1	RCV002622111;	N	MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994	11	47460309	47460309		-
NM_005055.5(RAPSN):c.1137C>T (p.Ala379=)	5913	RAPSN	Likely benign	-1	RCV002996407;	N	MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994	11	47460312	47460312		-
NM_005055.5(RAPSN):c.1131G>A (p.Leu377=)	5913	RAPSN	Likely benign	2076335581	RCV001411864;	N	Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994; MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590	11	47460318	47460318	47460318	-
NM_005055.5(RAPSN):c.1128G>A (p.Arg376=)	5913	RAPSN	Likely benign	1194287140	RCV001489496;	N	Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994; MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590	11	47460321	47460321	47460321	-
NM_005055.5(RAPSN):c.1127G>A (p.Arg376Gln)	5913	RAPSN	Uncertain significance	1241928450	RCV000695951\|RCV001830527\|RCV003130006;	N	MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994\|MONDO:MONDO:0018940,MeSH:D020294,MedGen:C0751882,OMIM:PS601462, Orphanet:590\|MedGen:C3661900	11	47460322	47460322	11:g.47460322C>T	-	C4225367 616326 Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency;
NM_005055.5(RAPSN):c.1127G>T (p.Arg376Leu)	5913	RAPSN	Uncertain significance	-1	RCV003091576;	N	MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994	11	47460322	47460322	NC_000011.9:g.47460322C>A	-
NM_005055.5(RAPSN):c.1126C>T (p.Arg376Trp)	5913	RAPSN	Uncertain significance	145507075	RCV000653217\|RCV001835897\|RCV003129971;	N	MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994\|MONDO:MONDO:0018940,MeSH:D020294,MedGen:C0751882,OMIM:PS601462, Orphanet:590\|MedGen:C3661900	11	47460323	47460323	11:g.47460323G>A	ClinGen:CA5976493	C4225367 616326 Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency;
NM_005055.5(RAPSN):c.1116GAA[1] (p.Lys373del)	5913	RAPSN	Pathogenic	759488854	RCV001050927\|RCV002259378\|RCV003396667\|RCV003467761;	N	Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994; MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590\|MedGen:C3661900\|\|MONDO:MONDO:0100102,MedGen:C4760576,OMIM:618388	11	47460328	47460330	11:g.47460328_47460330del	-
NM_005055.5(RAPSN):c.1119G>A (p.Lys373=)	5913	RAPSN	Likely benign	1048200516	RCV000544586;	N	MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994	11	47460330	47460330	11:g.47460330C>T	ClinGen:CA221713992	C4225367 616326 Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency;
NM_005055.5(RAPSN):c.1116G>A (p.Glu372=)	5913	RAPSN	Likely benign	2153306751	RCV001440665;	N	Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994; MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590	11	47460333	47460333	47460333	-
NM_005055.5(RAPSN):c.1115A>G (p.Glu372Gly)	5913	RAPSN	Uncertain significance	768059942	RCV001936632\|RCV003130624;	N	Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994; MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590\|MedGen:C3661900	11	47460334	47460334	47460334	-
NM_005055.5(RAPSN):c.1114G>A (p.Glu372Lys)	5913	RAPSN	Uncertain significance	-1	RCV002637102;	N	MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994	11	47460335	47460335	NC_000011.9:g.47460335C>T	-
NM_005055.5(RAPSN):c.1113C>T (p.Gly371=)	5913	RAPSN	Uncertain significance	150503333	RCV001278479\|RCV002537796;	N	MONDO:MONDO:0018940,MeSH:D020294,MedGen:C0751882,OMIM:PS601462, Orphanet:590\|Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994; MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590	11	47460336	47460336	11:g.47460336G>A	-
NM_005055.5(RAPSN):c.1102G>A (p.Glu368Lys)	5913	RAPSN	Uncertain significance	756519962	RCV001969956;	N	Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994; MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590	11	47460347	47460347	47460347	-
NM_005055.5(RAPSN):c.1099G>A (p.Gly367Ser)	5913	RAPSN	Uncertain significance	369104346	RCV001105410\|RCV001105409;	N	MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590\|Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994	11	47460350	47460350	11:g.47460350C>T	-
NM_005055.5(RAPSN):c.1098C>T (p.Cys366=)	5913	RAPSN	Likely benign	139525851	RCV000251086\|RCV000876411;	N	MedGen:CN169374\|MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994	11	47460351	47460351	11:g.47460351G>A	ClinGen:CA5976503	CN169374 not specified;
NM_005055.5(RAPSN):c.1092C>T (p.Gly364=)	5913	RAPSN	Uncertain significance	778228002	RCV001046498;	N	Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994; MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590	11	47460357	47460357	11:g.47460357G>A	-
NM_005055.5(RAPSN):c.1090G>A (p.Gly364Ser)	5913	RAPSN	Uncertain significance	372865599	RCV001936420\|RCV002491963\|RCV003355666;	N	Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994; MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590\|MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; MONDO:MONDO:0100102,MedGen:C476057	11	47460359	47460359	47460359	-
NM_005055.5(RAPSN):c.1089C>T (p.Cys363=)	5913	RAPSN	Likely benign	150934532	RCV002109913;	N	MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994	11	47460360	47460360	47460360	-
NM_005055.5(RAPSN):c.1086C>T (p.Tyr362=)	5913	RAPSN	Likely benign	763018407	RCV001411252;	N	Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994; MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590	11	47460363	47460363	47460363	-
NM_005055.5(RAPSN):c.1083_1084dup (p.Tyr362fs)	5913	RAPSN	Pathogenic	786205885	RCV000170473\|RCV000478920\|RCV001826868;	N	MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590\|MedGen:CN517202\|MONDO:MONDO:0018940,MeSH:D020294,MedGen:C0751882,OMIM:PS601462, Orphanet:590	11	47460364	47460365	NC_000011.9:g.47460365AG[3]	ClinGen:CA199651,OMIM:601592.0015	C4225367 616326 Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency;
NM_005055.5(RAPSN):c.1081C>G (p.Leu361Val)	5913	RAPSN	Uncertain significance	1231669536	RCV001318006\|RCV001835585;	N	MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994\|MONDO:MONDO:0018940,MeSH:D020294,MedGen:C0751882,OMIM:PS601462, Orphanet:590	11	47460368	47460368	47460368	-
NM_005055.5(RAPSN):c.1077G>A (p.Thr359=)	5913	RAPSN	Likely benign	565321918	RCV000899185;	N	Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994; MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590	11	47460372	47460372	11:g.47460372C>T	-
NM_005055.5(RAPSN):c.1077G>T (p.Thr359=)	5913	RAPSN	Likely benign	565321918	RCV001491739;	N	Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994; MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590	11	47460372	47460372	47460372	-
NM_005055.5(RAPSN):c.1077G>C (p.Thr359=)	5913	RAPSN	Likely benign	-1	RCV003086739;	N	MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994	11	47460372	47460372		-
NM_005055.5(RAPSN):c.1076C>T (p.Thr359Met)	5913	RAPSN	Uncertain significance	768394140	RCV001305634\|RCV001835482;	N	Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994; MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590\|MONDO:MONDO:0018940,MeSH:D020294,MedGen:C0751882,OMIM:PS601462, Orphanet:590	11	47460373	47460373	47460373	-
NM_005055.5(RAPSN):c.1070dup (p.Glu358fs)	5913	RAPSN	Likely pathogenic	1475015182	RCV002032986;	N	Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994; MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590	11	47460378	47460379	47460378	-
NM_005055.5(RAPSN):c.1071G>A (p.Glu357=)	5913	RAPSN	Likely benign	-1	RCV002596166;	N	Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994; MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590	11	47460378	47460378		-
NM_005055.5(RAPSN):c.1069G>C (p.Glu357Gln)	5913	RAPSN	Uncertain significance	1595896567	RCV000804302;	N	MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994	11	47460380	47460380	11:g.47460380C>G	-
NM_005055.5(RAPSN):c.1066G>A (p.Val356Met)	5913	RAPSN	Uncertain significance	570140663	RCV000307953\|RCV000404405\|RCV000706275\|RCV001274400\|RCV003243062\|RCV002487360;	N	Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994\|MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590\|Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:99	11	47460383	47460383	NC_000011.9:g.47460383C>T	ClinGen:CA5976510	CN239337 Congenital Myasthenic Syndrome, Recessive;
NM_005055.5(RAPSN):c.1065C>A (p.Cys355Ter)	5913	RAPSN	Pathogenic	763094966	RCV001219154;	N	MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994	11	47460384	47460384	11:g.47460384G>T	-
NM_005055.5(RAPSN):c.1065C>T (p.Cys355=)	5913	RAPSN	Likely benign	763094966	RCV001448777;	N	Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994; MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590	11	47460384	47460384	47460384	-
NM_005055.5(RAPSN):c.1062G>C (p.Glu354Asp)	5913	RAPSN	Uncertain significance	-1	RCV003066459;	N	MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994	11	47460387	47460387	NC_000011.9:g.47460387C>G	-
NM_005055.5(RAPSN):c.1059C>T (p.His353=)	5913	RAPSN	Likely benign	544722226	RCV001278480\|RCV001488356;	N	MONDO:MONDO:0018940,MeSH:D020294,MedGen:C0751882,OMIM:PS601462, Orphanet:590\|Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994; MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590	11	47460390	47460390	11:g.47460390G>A	-
NM_005055.5(RAPSN):c.1029_1045del (p.Glu344fs)	5913	RAPSN	Conflicting interpretations of pathogenicity	765096923	RCV000779064\|RCV001232917\|RCV003461050;	N	MedGen:CN239397\|MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994\|MONDO:MONDO:0100102,MedGen:C4760576,OMIM:618388	11	47460404	47460420	NC_000011.9:g.47460406_47460422del	-
NM_005055.5(RAPSN):c.1044C>T (p.His348=)	5913	RAPSN	Likely benign	1014137280	RCV001425637;	N	MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994	11	47460405	47460405	47460405	-
NM_005055.5(RAPSN):c.1041G>A (p.Ala347=)	5913	RAPSN	Conflicting interpretations of pathogenicity	149683345	RCV000246362\|RCV000344045\|RCV000402474\|RCV000873776\|RCV001084322\|RCV001274401\|RCV001578812;	N	MedGen:CN169374\|MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590\|Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994\|MedGen:CN517202\|Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:	11	47460408	47460408	NC_000011.9:g.47460408C>T	ClinGen:CA5976519	CN239337 Congenital Myasthenic Syndrome, Recessive;
NM_005055.5(RAPSN):c.1040C>G (p.Ala347Gly)	5913	RAPSN	Uncertain significance	1252992478	RCV001913600;	N	MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994	11	47460409	47460409	47460409	-
NM_005055.5(RAPSN):c.1038G>A (p.Arg346=)	5913	RAPSN	Likely benign	764482974	RCV002073612;	N	Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994; MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590	11	47460411	47460411	47460411	-
NM_005055.5(RAPSN):c.1036C>T (p.Arg346Trp)	5913	RAPSN	Uncertain significance	529117281	RCV000653216\|RCV001274402\|RCV003129970;	N	Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994; MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590\|MONDO:MONDO:0018940,MeSH:D020294,MedGen:C0751882,OMIM:PS601462, Orphanet:590\|MedGen:CN517202	11	47460413	47460413	11:g.47460413G>A	ClinGen:CA5976522	C4225367 616326 Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency;
NM_005055.5(RAPSN):c.1033C>T (p.Leu345=)	5913	RAPSN	Likely benign	778622975	RCV000982749;	N	Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994; MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590	11	47460416	47460416	11:g.47460416G>A	-
NM_005055.5(RAPSN):c.1030G>A (p.Glu344Lys)	5913	RAPSN	Uncertain significance	-1	RCV002615983;	N	Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994; MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590	11	47460419	47460419	NC_000011.9:g.47460419C>T	-
NM_005055.5(RAPSN):c.1028G>A (p.Arg343Gln)	5913	RAPSN	Uncertain significance	757902272	RCV000653214\|RCV001829813;	N	Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994; MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590\|MONDO:MONDO:0018940,MeSH:D020294,MedGen:C0751882,OMIM:PS601462, Orphanet:590	11	47460421	47460421	NC_000011.9:g.47460421C>T	ClinGen:CA5976525	C4225367 616326 Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency;
NM_005055.5(RAPSN):c.1017A>G (p.Lys339=)	5913	RAPSN	Likely benign	-1	RCV002686318;	N	MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994	11	47460432	47460432		-
NM_005055.5(RAPSN):c.1010G>A (p.Arg337His)	5913	RAPSN	Uncertain significance	768445220	RCV001064461\|RCV001833629;	N	Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994; MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590\|MONDO:MONDO:0018940,MeSH:D020294,MedGen:C0751882,OMIM:PS601462, Orphanet:590	11	47460439	47460439	11:g.47460439C>T	-
NM_005055.5(RAPSN):c.1009C>T (p.Arg337Cys)	5913	RAPSN	Uncertain significance	549232026	RCV000653215\|RCV001835896;	N	Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994; MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590\|MONDO:MONDO:0018940,MeSH:D020294,MedGen:C0751882,OMIM:PS601462, Orphanet:590	11	47460440	47460440	11:g.47460440G>A	ClinGen:CA380327816	C4225367 616326 Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency;
NM_005055.5(RAPSN):c.1002C>T (p.Ser334=)	5913	RAPSN	Likely benign	376829572	RCV001458194;	N	Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994; MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590	11	47460447	47460447	47460447	-
NM_005055.5(RAPSN):c.999G>A (p.Glu333=)	5913	RAPSN	Likely benign	-1	RCV002653173;	N	MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994	11	47460450	47460450		-
NM_005055.5(RAPSN):c.997G>T (p.Glu333Ter)	5913	RAPSN	Pathogenic	201947904	RCV000822748\|RCV001830818\|RCV003461280;	N	MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994\|MONDO:MONDO:0018940,MeSH:D020294,MedGen:C0751882,OMIM:PS601462, Orphanet:590\|MONDO:MONDO:0100102	11	47460452	47460452	11:g.47460452C>A	-
NM_005055.5(RAPSN):c.997G>C (p.Glu333Gln)	5913	RAPSN	Uncertain significance	201947904	RCV001054429\|RCV001275243\|RCV003132181;	N	Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994; MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590\|MONDO:MONDO:0018940,MeSH:D020294,MedGen:C0751882,OMIM:PS601462, Orphanet:590\|MedGen:C3661900	11	47460452	47460452	11:g.47460452C>G	-
NM_005055.5(RAPSN):c.997G>A (p.Glu333Lys)	5913	RAPSN	Uncertain significance	-1	RCV002775675\|RCV003134496;	N	MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994\|MedGen:CN517202	11	47460452	47460452	NC_000011.9:g.47460452C>T	-
NM_005055.5(RAPSN):c.996C>G (p.Ser332Arg)	5913	RAPSN	Uncertain significance	1013180221	RCV001278481\|RCV002537797;	N	MONDO:MONDO:0018940,MeSH:D020294,MedGen:C0751882,OMIM:PS601462, Orphanet:590\|Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994; MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590	11	47460453	47460453	11:g.47460453G>C	-
NM_005055.5(RAPSN):c.993G>T (p.Leu331=)	5913	RAPSN	Likely benign	867698000	RCV002119069;	N	Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994; MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590	11	47460456	47460456	47460456	-
NM_005055.5(RAPSN):c.990_993del (p.His329_Cys330insTer)	5913	RAPSN	Pathogenic	-1	RCV003058311\|RCV003465922;	N	Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994; MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590\|MONDO:MONDO:0100102,MedGen:C4760576,OMIM:618388	11	47460456	47460459	NC_000011.9:g.47460459_47460462del	-
NM_005055.5(RAPSN):c.991C>T (p.Leu331=)	5913	RAPSN	Likely benign	1595896703	RCV001443166;	N	Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994; MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590	11	47460458	47460458	11:g.47460458G>A	-
NM_005055.5(RAPSN):c.988T>C (p.Cys330Arg)	5913	RAPSN	Uncertain significance	2076338568	RCV002029570;	N	Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994; MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590	11	47460461	47460461	47460461	-
NM_005055.5(RAPSN):c.987C>T (p.His329=)	5913	RAPSN	Likely benign	1340342787	RCV001481333;	N	Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994; MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590	11	47460462	47460462	47460462	-
NM_005055.5(RAPSN):c.985C>T (p.His329Tyr)	5913	RAPSN	Uncertain significance	772147307	RCV001278482\|RCV002493480;	N	MONDO:MONDO:0018940,MeSH:D020294,MedGen:C0751882,OMIM:PS601462, Orphanet:590\|MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; MONDO:MONDO:0100102,MedGen:C4760576,OMIM:618388	11	47460464	47460464	11:g.47460464G>A	-
NM_005055.5(RAPSN):c.984G>T (p.Leu328=)	5913	RAPSN	Likely benign	1469910398	RCV002128178;	N	Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994; MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590	11	47460465	47460465	47460465	-
NM_005055.5(RAPSN):c.975G>A (p.Gln325=)	5913	RAPSN	Likely benign	528431446	RCV001275244\|RCV001401566;	N	MONDO:MONDO:0018940,MeSH:D020294,MedGen:C0751882,OMIM:PS601462, Orphanet:590\|MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994	11	47460474	47460474	11:g.47460474C>T	-
NM_005055.5(RAPSN):c.973C>T (p.Gln325Ter)	5913	RAPSN	Pathogenic	-1	RCV003062376;	N	MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994	11	47460476	47460476	NC_000011.9:g.47460476G>A	-
NM_005055.5(RAPSN):c.972C>T (p.Ser324=)	5913	RAPSN	Likely benign	2076338821	RCV002103795;	N	MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994	11	47460477	47460477	47460477	-
NM_005055.5(RAPSN):c.967-5C>T	5913	RAPSN	Likely benign	374686678	RCV001949270;	N	Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994; MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590	11	47460487	47460487	47460487	-
NM_005055.5(RAPSN):c.967-7G>C	5913	RAPSN	Likely benign	1374385127	RCV001449067;	N	Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994; MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590	11	47460489	47460489	47460489	-
NM_005055.5(RAPSN):c.967-7G>T	5913	RAPSN	Likely benign	1374385127	RCV002080140;	N	Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994; MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590	11	47460489	47460489	47460489	-
NM_005055.5(RAPSN):c.967-10C>T	5913	RAPSN	Likely benign	754320492	RCV002084692;	N	MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994	11	47460492	47460492	47460492	-
NM_005055.5(RAPSN):c.966+16G>A	5913	RAPSN	Likely benign	759757902	RCV002175873;	N	Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994; MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590	11	47462694	47462694	47462694	-
NC_000011.9:g.(?_47462700)_(47463483_?)del	5913	RAPSN	Pathogenic	-1	RCV003116300;	N	Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994; MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590	11	47462700	47463483		-
NM_005055.5(RAPSN):c.966+7C>G	5913	RAPSN	Likely benign	1595898047	RCV001460521;	N	MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994	11	47462703	47462703	11:g.47462703G>C	-
NM_005055.5(RAPSN):c.966+7C>T	5913	RAPSN	Likely benign	-1	RCV003011887;	N	MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994	11	47462703	47462703	NC_000011.9:g.47462703G>A	-
NM_005055.5(RAPSN):c.966+1_966+2delinsAG	5913	RAPSN	Pathogenic/Likely pathogenic	2153308170	RCV002000681\|RCV003464355;	N	Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994; MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590\|MONDO:MONDO:0100102,MedGen:C4760576,OMIM:618388	11	47462708	47462709	47462708	-
NM_005055.5(RAPSN):c.960G>A (p.Gly320=)	5913	RAPSN	Benign/Likely benign	145357531	RCV000500274\|RCV000554854;	N	MedGen:CN169374\|MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994	11	47462716	47462716	NC_000011.9:g.47462716C>T	ClinGen:CA5976550	C4225367 616326 Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency;
NM_005055.5(RAPSN):c.957G>C (p.Val319=)	5913	RAPSN	Conflicting interpretations of pathogenicity	794727796	RCV000179449\|RCV001461803;	N	MedGen:CN517202\|MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994	11	47462719	47462719	11:g.47462719C>G	ClinGen:CA246696	CN169374 not specified;
NM_005055.5(RAPSN):c.949G>A (p.Glu317Lys)	5913	RAPSN	Uncertain significance	772054419	RCV001050364\|RCV001274403;	N	Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994; MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590\|MONDO:MONDO:0018940,MeSH:D020294,MedGen:C0751882,OMIM:PS601462, Orphanet:590	11	47462727	47462727	11:g.47462727C>T	-
NM_005055.5(RAPSN):c.948C>T (p.Ala316=)	5913	RAPSN	Likely benign	374676714	RCV000874902\|RCV001274404;	N	Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994; MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590\|MONDO:MONDO:0018940,MeSH:D020294,MedGen:C0751882,OMIM:PS601462, Orphanet:590	11	47462728	47462728	11:g.47462728G>A	-
NM_005055.5(RAPSN):c.948C>A (p.Ala316=)	5913	RAPSN	Likely benign	374676714	RCV002181697;	N	Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994; MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590	11	47462728	47462728	47462728	-
NM_005055.5(RAPSN):c.935C>T (p.Ala312Val)	5913	RAPSN	Uncertain significance	-1	RCV002696268;	N	MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994	11	47462741	47462741	NC_000011.9:g.47462741G>A	-
NM_005055.5(RAPSN):c.934G>A (p.Ala312Thr)	5913	RAPSN	Uncertain significance	-1	RCV002658919;	N	MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994	11	47462742	47462742	NC_000011.9:g.47462742C>T	-
NM_005055.5(RAPSN):c.928G>A (p.Glu310Lys)	5913	RAPSN	Uncertain significance	367565995	RCV000358965\|RCV000396758\|RCV001223828\|RCV001833442\|RCV003129828;	N	MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590\|Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994\|Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:99	11	47462748	47462748	NC_000011.9:g.47462748C>T	ClinGen:CA5976558	CN239337 Congenital Myasthenic Syndrome, Recessive;
NM_005055.5(RAPSN):c.927C>T (p.Ile309=)	5913	RAPSN	Likely benign	144813373	RCV000899411;	N	Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994; MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590	11	47462749	47462749	11:g.47462749G>A	-
NM_005055.5(RAPSN):c.926T>G (p.Ile309Ser)	5913	RAPSN	Uncertain significance	-1	RCV002953917\|RCV003250637;	N	MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994\|MeSH:D030342,MedGen:C0950123	11	47462750	47462750	NC_000011.9:g.47462750A>C	-
NM_005055.5(RAPSN):c.924C>T (p.Ala308=)	5913	RAPSN	Likely benign	-1	RCV002851561;	N	MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994	11	47462752	47462752		-
NM_005055.5(RAPSN):c.919G>C (p.Asp307His)	5913	RAPSN	Uncertain significance	1565683625	RCV000697083\|RCV001825368;	N	MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994\|MONDO:MONDO:0018940,MeSH:D020294,MedGen:C0751882,OMIM:PS601462, Orphanet:590	11	47462757	47462757	11:g.47462757C>G	-	C4225367 616326 Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency;
NM_005055.5(RAPSN):c.916C>T (p.Leu306=)	5913	RAPSN	Likely benign	1262478144	RCV001473089;	N	MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994	11	47462760	47462760	47462760	-
NM_005055.5(RAPSN):c.915T>C (p.Ala305=)	5913	RAPSN	Likely benign	-1	RCV003002413;	N	MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994	11	47462761	47462761		-
NM_005055.5(RAPSN):c.913-7del	5913	RAPSN	Likely benign	-1	RCV002852319;	N	MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994	11	47462770	47462770	NC_000011.9:g.47462771del	-
NM_005055.5(RAPSN):c.913-8C>A	5913	RAPSN	Likely benign	2153308235	RCV002163372;	N	Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994; MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590	11	47462771	47462771	47462771	-
NM_005055.5(RAPSN):c.913-15A>G	5913	RAPSN	Benign/Likely benign	185204384	RCV000248932\|RCV000841943\|RCV002058179;	N	MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994	11	47462778	47462778	NC_000011.9:g.47462778T>C	ClinGen:CA5976563	CN169374 not specified;
NM_005055.5(RAPSN):c.913-18C>T	5913	RAPSN	Likely benign	570429072	RCV002162925;	N	Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994; MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590	11	47462781	47462781	47462781	-
NM_005055.5(RAPSN):c.912+11G>T	5913	RAPSN	Likely benign	780444573	RCV002078612;	N	MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994	11	47463152	47463152	47463152	-
NM_005055.5(RAPSN):c.912+9G>T	5913	RAPSN	Uncertain significance	751790521	RCV001106550\|RCV001106551;	N	Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994\|MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590	11	47463154	47463154	11:g.47463154C>A	-
NM_005055.5(RAPSN):c.912+9G>A	5913	RAPSN	Uncertain significance	751790521	RCV001106552\|RCV001106553\|RCV001243852\|RCV001833706\|RCV003425929;	N	Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994\|MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590\|MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; Human Phenotype Ontology:HP:000198	11	47463154	47463154	11:g.47463154C>T	-
NM_005055.5(RAPSN):c.912+8C>T	5913	RAPSN	Likely benign	375174267	RCV001274405\|RCV001452490;	N	MONDO:MONDO:0018940,MeSH:D020294,MedGen:C0751882,OMIM:PS601462, Orphanet:590\|Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994; MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590	11	47463155	47463155	11:g.47463155G>A	-
NM_005055.5(RAPSN):c.912+6G>A	5913	RAPSN	Uncertain significance	781362707	RCV002038026;	N	Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994; MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590	11	47463157	47463157	47463157	-
NM_005055.5(RAPSN):c.911_912+1dup	5913	RAPSN	Likely pathogenic	2153308410	RCV001377328;	N	Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994; MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590	11	47463161	47463162	47463161	-
NM_005055.5(RAPSN):c.912G>A (p.Lys304=)	5913	RAPSN	Uncertain significance	1273342588	RCV001219113;	N	MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994	11	47463163	47463163	11:g.47463163C>T	-
NM_005055.5(RAPSN):c.909C>G (p.Asp303Glu)	5913	RAPSN	Uncertain significance	-1	RCV002988858\|RCV003134578;	N	MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994\|MedGen:CN517202	11	47463166	47463166	NC_000011.9:g.47463166G>C	-
NM_005055.5(RAPSN):c.903G>A (p.Ala301=)	5913	RAPSN	Conflicting interpretations of pathogenicity	56040810	RCV000304526\|RCV001081237\|RCV001106555\|RCV001106554\|RCV001274406;	N	MedGen:C3661900\|Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994; MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590\|Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:20	11	47463172	47463172	11:g.47463172C>T	ClinGen:CA5976594	CN169374 not specified;
NM_005055.5(RAPSN):c.902C>T (p.Ala301Val)	5913	RAPSN	Uncertain significance	-1	RCV003134527\|RCV002917407;	N	MedGen:CN517202\|MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994	11	47463173	47463173	NC_000011.9:g.47463173G>A	-
NM_005055.5(RAPSN):c.894C>T (p.Ala298=)	5913	RAPSN	Likely benign	-1	RCV002918067;	N	MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994	11	47463181	47463181		-
NM_005055.5(RAPSN):c.889G>A (p.Val297Met)	5913	RAPSN	Uncertain significance	369570812	RCV000653219\|RCV001274407\|RCV002507125;	N	Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994; MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590\|MONDO:MONDO:0018940,MeSH:D020294,MedGen:C0751882,OMIM:PS601462, Orphanet:590\|MONDO:MONDO:0014588	11	47463186	47463186	11:g.47463186C>T	ClinGen:CA5976596	C4225367 616326 Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency;
NM_005055.5(RAPSN):c.872G>A (p.Gly291Asp)	5913	RAPSN	Conflicting interpretations of pathogenicity	374604570	RCV000850590\|RCV002470993\|RCV003130080\|RCV003467529;	N	Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994; MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590\|MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590\|MedGen:C3661900\|MONDO:MONDO:010010	11	47463203	47463203	11:g.47463203C>T	-
NM_005055.5(RAPSN):c.872G>C (p.Gly291Ala)	5913	RAPSN	Likely pathogenic	374604570	RCV002018846;	N	MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994	11	47463203	47463203	47463203	-
NM_005055.5(RAPSN):c.865C>T (p.Leu289=)	5913	RAPSN	Likely benign	2153308454	RCV002174625;	N	Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994; MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590	11	47463210	47463210	47463210	-
NM_005055.5(RAPSN):c.864G>A (p.Ala288=)	5913	RAPSN	Likely benign	147966227	RCV000897425\|RCV001278483;	N	Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994; MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590\|MONDO:MONDO:0018940,MeSH:D020294,MedGen:C0751882,OMIM:PS601462, Orphanet:590	11	47463211	47463211	11:g.47463211C>T	-
NM_005055.5(RAPSN):c.863C>T (p.Ala288Val)	5913	RAPSN	Uncertain significance	760068830	RCV001239329\|RCV001834085\|RCV003132324;	N	Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994; MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590\|MONDO:MONDO:0018940,MeSH:D020294,MedGen:C0751882,OMIM:PS601462, Orphanet:590\|MedGen:CN517202	11	47463212	47463212	11:g.47463212G>A	-
NM_005055.5(RAPSN):c.855G>A (p.Gln285=)	5913	RAPSN	Benign	45603036	RCV000118120\|RCV000300801\|RCV000355918\|RCV001275245\|RCV001538025\|RCV001514411\|RCV002498526;	N	MedGen:CN169374\|Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994\|MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590\|MONDO:MONDO:0018940,MeSH:D020294,MedGen:C0751882,OMIM:PS601462, Orphanet:590\|MON	11	47463220	47463220	11:g.47463220C>T	ClinGen:CA154878	CN239337 Congenital Myasthenic Syndrome, Recessive;
NM_005055.5(RAPSN):c.853C>T (p.Gln285Ter)	5913	RAPSN	Pathogenic	1555142603	RCV000542391;	N	MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994	11	47463222	47463222	11:g.47463222G>A	ClinGen:CA380329271	C4225367 616326 Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency;
NM_005055.5(RAPSN):c.850G>A (p.Gly284Arg)	5913	RAPSN	Uncertain significance	1294627986	RCV001315283;	N	MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994	11	47463225	47463225	47463225	-
NM_005055.5(RAPSN):c.848T>C (p.Leu283Pro)	5913	RAPSN	Conflicting interpretations of pathogenicity	104894293	RCV000008518\|RCV000178899\|RCV001255415\|RCV001336781\|RCV001731282\|RCV002512911\|RCV003460441;	N	MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590\|MedGen:C3661900\|Human Phenotype Ontology:HP:0000754,Human Phenotype Ontology:HP:0001255,Human Phenotype Ontology:HP:0001263,Human Phenotype Ontology:HP:0001277,Human Phenotype Ontology:HP:0001	11	47463227	47463227	11:g.47463227A>G	ClinGen:CA119255,UniProtKB:Q13702#VAR_043903,OMIM:601592.0007	C4225367 616326 Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency;
NM_005055.5(RAPSN):c.847C>G (p.Leu283Val)	5913	RAPSN	Uncertain significance	761730497	RCV001278484\|RCV002493481\|RCV003130238;	N	MONDO:MONDO:0018940,MeSH:D020294,MedGen:C0751882,OMIM:PS601462, Orphanet:590\|MONDO:MONDO:0100102,MedGen:C4760576,OMIM:618388; MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590\|MedGen:CN517202	11	47463228	47463228	11:g.47463228G>C	-
NM_005055.5(RAPSN):c.847C>T (p.Leu283=)	5913	RAPSN	Likely benign	761730497	RCV001484506;	N	Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994; MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590	11	47463228	47463228	47463228	-
NM_005055.5(RAPSN):c.846C>T (p.Arg282=)	5913	RAPSN	Likely benign	1595898465	RCV001500224;	N	MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994	11	47463229	47463229	11:g.47463229G>A	-
NM_005055.5(RAPSN):c.845G>T (p.Arg282Leu)	5913	RAPSN	Uncertain significance	143668632	RCV002023992;	N	MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994	11	47463230	47463230	47463230	-
NM_005055.5(RAPSN):c.844C>T (p.Arg282Cys)	5913	RAPSN	Uncertain significance	-1	RCV002632039;	N	MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994	11	47463231	47463231	NC_000011.9:g.47463231G>A	-
NM_005055.5(RAPSN):c.838G>A (p.Gly280Arg)	5913	RAPSN	Uncertain significance	1262674788	RCV000794222\|RCV001825551;	N	MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994\|MONDO:MONDO:0018940,MeSH:D020294,MedGen:C0751882,OMIM:PS601462, Orphanet:590	11	47463237	47463237	11:g.47463237C>T	-
NM_005055.5(RAPSN):c.838G>T (p.Gly280Ter)	5913	RAPSN	Pathogenic	1262674788	RCV001390845;	N	Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994; MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590	11	47463237	47463237	47463237	-
NM_005055.5(RAPSN):c.837C>T (p.Ile279=)	5913	RAPSN	Likely benign	755310896	RCV001393153;	N	Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994; MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590	11	47463238	47463238	47463238	-
NM_005055.5(RAPSN):c.837C>G (p.Ile279Met)	5913	RAPSN	Uncertain significance	755310896	RCV002027768;	N	Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994; MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590	11	47463238	47463238	47463238	-
NM_005055.5(RAPSN):c.834G>A (p.Glu278=)	5913	RAPSN	Likely benign	-1	RCV002820714;	N	MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994	11	47463241	47463241		-
NM_005055.5(RAPSN):c.832G>A (p.Glu278Lys)	5913	RAPSN	Uncertain significance	1418635230	RCV002024368\|RCV003365664;	N	MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994\|MeSH:D030342,MedGen:C0950123	11	47463243	47463243	47463243	-
NM_005055.5(RAPSN):c.831C>T (p.Thr277=)	5913	RAPSN	Likely benign	148078235	RCV000876096\|RCV001274408\|RCV002478991;	N	Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994; MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590\|MONDO:MONDO:0018940,MeSH:D020294,MedGen:C0751882,OMIM:PS601462, Orphanet:590\|MONDO:MONDO:0014588	11	47463244	47463244	11:g.47463244G>A	-
NM_005055.5(RAPSN):c.831C>A (p.Thr277=)	5913	RAPSN	Likely benign	148078235	RCV002214738;	N	Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994; MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590	11	47463244	47463244	47463244	-
NM_005055.5(RAPSN):c.825C>T (p.Ile275=)	5913	RAPSN	Likely benign	-1	RCV002991679;	N	MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994	11	47463250	47463250		-
NM_005055.5(RAPSN):c.822C>A (p.Ser274Arg)	5913	RAPSN	Uncertain significance	778371396	RCV000815494\|RCV001830787\|RCV003130071;	N	Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994; MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590\|MONDO:MONDO:0018940,MeSH:D020294,MedGen:C0751882,OMIM:PS601462, Orphanet:590\|MedGen:CN517202	11	47463253	47463253	11:g.47463253G>T	-
NM_005055.5(RAPSN):c.821G>A (p.Ser274Asn)	5913	RAPSN	Conflicting interpretations of pathogenicity	140996453	RCV000261059\|RCV000316244\|RCV000525112\|RCV001274409\|RCV001531730;	N	MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590\|Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994\|MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; Human Phenotype Ontology:HP:000198	11	47463254	47463254	NC_000011.9:g.47463254C>T	ClinGen:CA5976611	CN239337 Congenital Myasthenic Syndrome, Recessive;
NM_005055.5(RAPSN):c.817A>T (p.Met273Leu)	5913	RAPSN	Uncertain significance	1397711588	RCV000700559\|RCV001830545\|RCV002534383;	N	MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994\|MONDO:MONDO:0018940,MeSH:D020294,MedGen:C0751882,OMIM:PS601462, Orphanet:590\|MeSH:D030342,MedGen	11	47463258	47463258	11:g.47463258T>A	-	C4225367 616326 Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency;
NM_005055.5(RAPSN):c.817A>C (p.Met273Leu)	5913	RAPSN	Uncertain significance	-1	RCV003015184;	N	MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994	11	47463258	47463258	NC_000011.9:g.47463258T>G	-
NM_005055.5(RAPSN):c.816C>T (p.Ala272=)	5913	RAPSN	Likely benign	779303374	RCV001426031;	N	MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994	11	47463259	47463259	47463259	-
NM_005055.5(RAPSN):c.814G>A (p.Ala272Thr)	5913	RAPSN	Uncertain significance	771749514	RCV001340475\|RCV001831063\|RCV003130479;	N	MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994\|MONDO:MONDO:0018940,MeSH:D020294,MedGen:C0751882,OMIM:PS601462, Orphanet:590\|MedGen:CN517202	11	47463261	47463261	47463261	-
NM_005055.5(RAPSN):c.813C>T (p.Ser271=)	5913	RAPSN	Likely benign	760253392	RCV002157581;	N	Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994; MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590	11	47463262	47463262	47463262	-
NM_005055.5(RAPSN):c.808G>A (p.Asp270Asn)	5913	RAPSN	Uncertain significance	768011436	RCV001243446\|RCV001278485;	N	Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994; MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590\|MONDO:MONDO:0018940,MeSH:D020294,MedGen:C0751882,OMIM:PS601462, Orphanet:590	11	47463267	47463267	11:g.47463267C>T	-
NM_005055.5(RAPSN):c.807C>A (p.Tyr269Ter)	5913	RAPSN	Pathogenic	104894301	RCV000008516;	N	MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590	11	47463268	47463268	11:g.47463268G>T	ClinGen:CA119253,OMIM:601592.0005	C4225367 616326 Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency;
NM_005055.5(RAPSN):c.807C>T (p.Tyr269=)	5913	RAPSN	Likely benign	104894301	RCV001475237;	N	Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994; MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590	11	47463268	47463268	47463268	-
NM_005055.5(RAPSN):c.799C>T (p.Pro267Ser)	5913	RAPSN	Uncertain significance	-1	RCV002712122;	N	MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994	11	47463276	47463276	NC_000011.9:g.47463276G>A	-
NM_005055.5(RAPSN):c.798C>T (p.Phe266=)	5913	RAPSN	Likely benign	1487536762	RCV001278486\|RCV001443169;	N	MONDO:MONDO:0018940,MeSH:D020294,MedGen:C0751882,OMIM:PS601462, Orphanet:590\|Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994; MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590	11	47463277	47463277	11:g.47463277G>A	-
NM_005055.5(RAPSN):c.793G>A (p.Ala265Thr)	5913	RAPSN	Uncertain significance	200695559	RCV000660649;	N	MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994	11	47463282	47463282	NC_000011.9:g.47463282C>T	-	C4225367 616326 Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency;
NM_005055.5(RAPSN):c.790-5T>C	5913	RAPSN	Likely benign	369823690	RCV000252368\|RCV000951440;	N	MedGen:CN169374\|Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994; MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590	11	47463290	47463290	11:g.47463290A>G	ClinGen:CA5976622	CN169374 not specified;
NM_005055.5(RAPSN):c.790-6C>T	5913	RAPSN	Likely benign	2076365864	RCV001432050;	N	Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994; MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590	11	47463291	47463291	47463291	-
NM_005055.5(RAPSN):c.790-9G>C	5913	RAPSN	Likely benign	-1	RCV002853094;	N	MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994	11	47463294	47463294	NC_000011.9:g.47463294C>G	-
NM_005055.5(RAPSN):c.790-15C>G	5913	RAPSN	Likely benign	752816353	RCV002180667;	N	Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994; MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590	11	47463300	47463300	47463300	-
NM_005055.5(RAPSN):c.790-19C>A	5913	RAPSN	Likely benign	-1	RCV002895252;	N	MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994	11	47463304	47463304	NC_000011.9:g.47463304G>T	-
NM_005055.5(RAPSN):c.789+17G>A	5913	RAPSN	Likely benign	369690955	RCV002127071;	N	MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994	11	47463358	47463358	47463358	-
NM_005055.5(RAPSN):c.789_789+15dup	5913	RAPSN	Likely benign	780882080	RCV002104114;	N	MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994	11	47463359	47463360	47463359	-
NM_005055.5(RAPSN):c.789+12G>A	5913	RAPSN	Likely benign	-1	RCV002894980;	N	MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994	11	47463363	47463363	NC_000011.9:g.47463363C>T	-
NM_005055.5(RAPSN):c.789+11C>G	5913	RAPSN	Likely benign	-1	RCV002622248;	N	MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994	11	47463364	47463364	NC_000011.9:g.47463364G>C	-
NM_005055.5(RAPSN):c.789+8C>G	5913	RAPSN	Likely benign	-1	RCV003031125;	N	MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994	11	47463367	47463367	NC_000011.9:g.47463367G>C	-
NM_005055.5(RAPSN):c.784C>G (p.Leu262Val)	5913	RAPSN	Uncertain significance	-1	RCV002903162;	N	MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994	11	47463380	47463380	NC_000011.9:g.47463380G>C	-
NM_005055.5(RAPSN):c.783C>T (p.Asp261=)	5913	RAPSN	Likely benign	2076367030	RCV001401679;	N	MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994	11	47463381	47463381	47463381	-
NM_005055.5(RAPSN):c.781G>A (p.Asp261Asn)	5913	RAPSN	Uncertain significance	762865029	RCV000276500\|RCV000370825\|RCV002520726;	N	MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590\|Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994\|Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:99	11	47463383	47463383	NC_000011.9:g.47463383C>T	ClinGen:CA5976641	CN239337 Congenital Myasthenic Syndrome, Recessive;
NM_005055.5(RAPSN):c.776G>A (p.Arg259His)	5913	RAPSN	Conflicting interpretations of pathogenicity	766051613	RCV000553703\|RCV001274410\|RCV001556490;	N	MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994\|MONDO:MONDO:0018940,MeSH:D020294,MedGen:C0751882,OMIM:PS601462, Orphanet:590\|MedGen:C3661900	11	47463388	47463388	11:g.47463388C>T	ClinGen:CA5976642	C4225367 616326 Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency;
NM_005055.5(RAPSN):c.775C>T (p.Arg259Cys)	5913	RAPSN	Uncertain significance	150207592	RCV000517478\|RCV001834667\|RCV001851454;	N	MedGen:CN169374\|MONDO:MONDO:0018940,MeSH:D020294,MedGen:C0751882,OMIM:PS601462, Orphanet:590\|MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994	11	47463389	47463389	NC_000011.9:g.47463389G>A	ClinGen:CA5976643	CN169374 not specified;
NM_005055.5(RAPSN):c.775C>G (p.Arg259Gly)	5913	RAPSN	Uncertain significance	150207592	RCV000791948\|RCV001825540;	N	Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994; MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590\|MONDO:MONDO:0018940,MeSH:D020294,MedGen:C0751882,OMIM:PS601462, Orphanet:590	11	47463389	47463389	11:g.47463389G>C	-
NM_005055.5(RAPSN):c.774C>T (p.Ser258=)	5913	RAPSN	Likely benign	2153308610	RCV002165763;	N	Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994; MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590	11	47463390	47463390	47463390	-
NM_005055.5(RAPSN):c.770G>A (p.Arg257Gln)	5913	RAPSN	Uncertain significance	-1	RCV003069261;	N	MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994	11	47463394	47463394	NC_000011.9:g.47463394C>T	-
NM_005055.5(RAPSN):c.769C>T (p.Arg257Trp)	5913	RAPSN	Uncertain significance	753956536	RCV001246340\|RCV001829985;	N	Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994; MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590\|MONDO:MONDO:0018940,MeSH:D020294,MedGen:C0751882,OMIM:PS601462, Orphanet:590	11	47463395	47463395	11:g.47463395G>A	-
NM_005055.5(RAPSN):c.768C>T (p.His256=)	5913	RAPSN	Likely benign	757302008	RCV001402195;	N	MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994	11	47463396	47463396	47463396	-
NM_005055.5(RAPSN):c.765C>A (p.Ile255=)	5913	RAPSN	Likely benign	1432435738	RCV002134164;	N	Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994; MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590	11	47463399	47463399	47463399	-
NM_005055.5(RAPSN):c.760G>A (p.Asp254Asn)	5913	RAPSN	Uncertain significance	750888238	RCV001932497;	N	MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994	11	47463404	47463404	47463404	-
NM_005055.5(RAPSN):c.757G>A (p.Ala253Thr)	5913	RAPSN	Uncertain significance	2153308622	RCV001966289;	N	Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994; MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590	11	47463407	47463407	47463407	-
NM_005055.5(RAPSN):c.756C>T (p.Phe252=)	5913	RAPSN	Likely benign	758794718	RCV000653220;	N	Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994; MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590	11	47463408	47463408	11:g.47463408G>A	ClinGen:CA5976650	C4225367 616326 Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency;
NM_005055.5(RAPSN):c.750C>T (p.Leu250=)	5913	RAPSN	Likely benign	2153308626	RCV002116447;	N	MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994	11	47463414	47463414	47463414	-
NM_005055.5(RAPSN):c.747G>C (p.Leu249=)	5913	RAPSN	Likely benign	1398686820	RCV001458960;	N	Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994; MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590	11	47463417	47463417	47463417	-
NM_005055.5(RAPSN):c.744C>T (p.Cys248=)	5913	RAPSN	Likely benign	780224551	RCV001392426;	N	Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994; MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590	11	47463420	47463420	47463420	-
NM_005055.5(RAPSN):c.738G>A (p.Ala246=)	5913	RAPSN	Likely benign	889862832	RCV001468518;	N	Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994; MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590	11	47463426	47463426	47463426	-
NM_005055.5(RAPSN):c.738G>T (p.Ala246=)	5913	RAPSN	Likely benign	889862832	RCV001490662;	N	Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994; MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590	11	47463426	47463426	47463426	-
NM_005055.5(RAPSN):c.737C>T (p.Ala246Val)	5913	RAPSN	Conflicting interpretations of pathogenicity	559933584	RCV000178236\|RCV001313406\|RCV003462285;	N	MedGen:C3661900\|Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994; MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590\|MONDO:MONDO:0100102,MedGen:C4760576,OMIM:618388	11	47463427	47463427	11:g.47463427G>A	ClinGen:CA275256	C1837091 608931 Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency;
NM_005055.5(RAPSN):c.691-2_732dup	5913	RAPSN	Uncertain significance	2076367688	RCV001219339;	N	MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994	11	47463431	47463432	11:g.47463431_47463432insCAGTGGCCGGTCCCCGTGCTGCAGCGCGATCTTCATAGACTCCT	-
NM_005055.5(RAPSN):c.731T>C (p.Leu244Pro)	5913	RAPSN	Uncertain significance	2076367706	RCV001235423;	N	Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994; MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590	11	47463433	47463433	11:g.47463433A>G	-
NM_005055.5(RAPSN):c.729A>G (p.Pro243=)	5913	RAPSN	Likely benign	1297914613	RCV001469830;	N	Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994; MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590	11	47463435	47463435	47463435	-
NM_005055.5(RAPSN):c.726G>A (p.Arg242=)	5913	RAPSN	Likely benign	754654883	RCV001461685;	N	MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994	11	47463438	47463438	47463438	-
NM_005055.5(RAPSN):c.725G>A (p.Arg242Gln)	5913	RAPSN	Uncertain significance	780963721	RCV000693236\|RCV001830515;	N	Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994; MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590\|MONDO:MONDO:0018940,MeSH:D020294,MedGen:C0751882,OMIM:PS601462, Orphanet:590	11	47463439	47463439	11:g.47463439C>T	-	C4225367 616326 Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency;
NM_005055.5(RAPSN):c.725G>C (p.Arg242Pro)	5913	RAPSN	Uncertain significance	780963721	RCV002028219;	N	Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994; MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590	11	47463439	47463439	47463439	-
NM_005055.5(RAPSN):c.724C>T (p.Arg242Trp)	5913	RAPSN	Conflicting interpretations of pathogenicity	-1	RCV002923133\|RCV003464639;	N	Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994; MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590\|MONDO:MONDO:0100102,MedGen:C4760576,OMIM:618388	11	47463440	47463440	NC_000011.9:g.47463440G>A	-
NM_005055.5(RAPSN):c.724C>G (p.Arg242Gly)	5913	RAPSN	Uncertain significance	-1	RCV003023228;	N	MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994	11	47463440	47463440	NC_000011.9:g.47463440G>C	-
NM_005055.5(RAPSN):c.723C>T (p.Asp241=)	5913	RAPSN	Likely benign	769383562	RCV001408752;	N	MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994	11	47463441	47463441	47463441	-
NM_005055.5(RAPSN):c.717C>T (p.His239=)	5913	RAPSN	Likely benign	576729861	RCV000875325\|RCV001274411;	N	Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994; MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590\|MONDO:MONDO:0018940,MeSH:D020294,MedGen:C0751882,OMIM:PS601462, Orphanet:590	11	47463447	47463447	11:g.47463447G>A	-
NM_005055.5(RAPSN):c.714G>A (p.Gln238=)	5913	RAPSN	Likely benign	2153308678	RCV001418505;	N	Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994; MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590	11	47463450	47463450	47463450	-
NM_005055.5(RAPSN):c.712C>T (p.Gln238Ter)	5913	RAPSN	Pathogenic	2076368388	RCV001923478\|RCV003464238;	N	Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994; MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590\|MONDO:MONDO:0100102,MedGen:C4760576,OMIM:618388	11	47463452	47463452	47463452	-
NM_005055.5(RAPSN):c.708G>A (p.Ala236=)	5913	RAPSN	Likely benign	770777539	RCV001495351;	N	Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994; MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590	11	47463456	47463456	47463456	-
NM_005055.5(RAPSN):c.706G>A (p.Ala236Thr)	5913	RAPSN	Uncertain significance	545915312	RCV000331606\|RCV000386023\|RCV001859810\|RCV003129829;	N	Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994\|MedGen:CN239337\|MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:20	11	47463458	47463458	NC_000011.9:g.47463458C>T	ClinGen:CA5976660	CN239337 Congenital Myasthenic Syndrome, Recessive;
NM_005055.5(RAPSN):c.705C>T (p.Ile235=)	5913	RAPSN	Likely benign	562539081	RCV000941918;	N	Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994; MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590	11	47463459	47463459	11:g.47463459G>A	-
NM_005055.5(RAPSN):c.691-4G>T	5913	RAPSN	Conflicting interpretations of pathogenicity	886048388	RCV000291804\|RCV000328166\|RCV000980196;	N	MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590\|Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994\|Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:99	11	47463477	47463477	NC_000011.9:g.47463477C>A	ClinGen:CA10638749	CN239337 Congenital Myasthenic Syndrome, Recessive;
NM_005055.5(RAPSN):c.691-5C>T	5913	RAPSN	Conflicting interpretations of pathogenicity	1291023159	RCV001251309\|RCV001407053;	N	MedGen:CN169374\|Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994; MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590	11	47463478	47463478	11:g.47463478G>A	-
NM_005055.5(RAPSN):c.691-7C>A	5913	RAPSN	Likely benign	2153308712	RCV001889728;	N	Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994; MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590	11	47463480	47463480	47463480	-
NM_005055.5(RAPSN):c.691-7del	5913	RAPSN	Likely benign	-1	RCV002923877;	N	MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994	11	47463480	47463480	NC_000011.9:g.47463482del	-
NM_005055.5(RAPSN):c.691-11C>T	5913	RAPSN	Likely benign	-1	RCV002923878;	N	MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994	11	47463484	47463484	NC_000011.9:g.47463484G>A	-
NM_005055.5(RAPSN):c.690+19G>A	5913	RAPSN	Likely benign	183974908	RCV002150537;	N	Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994; MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590	11	47464189	47464189	47464189	-
NM_005055.5(RAPSN):c.690+14G>T	5913	RAPSN	Uncertain significance	752360126	RCV002043344;	N	Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994; MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590	11	47464194	47464194	47464194	-
NM_005055.5(RAPSN):c.690+11G>A	5913	RAPSN	Likely benign	-1	RCV002882258;	N	MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994	11	47464197	47464197	NC_000011.9:g.47464197C>T	-
NM_005055.5(RAPSN):c.690+10C>T	5913	RAPSN	Conflicting interpretations of pathogenicity	78293924	RCV000343403\|RCV000392928\|RCV000946126\|RCV001274412;	N	MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590\|Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994\|MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; Human Phenotype Ontology:HP:000198	11	47464198	47464198	NC_000011.9:g.47464198G>A	ClinGen:CA5976676	CN239337 Congenital Myasthenic Syndrome, Recessive;
NM_005055.5(RAPSN):c.690+10C>G	5913	RAPSN	Likely benign	78293924	RCV001428222;	N	MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994	11	47464198	47464198	47464198	-
NM_005055.5(RAPSN):c.690+4G>A	5913	RAPSN	Uncertain significance	201803329	RCV001044087\|RCV001274413;	N	MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994\|MONDO:MONDO:0018940,MeSH:D020294,MedGen:C0751882,OMIM:PS601462, Orphanet:590	11	47464204	47464204	11:g.47464204C>T	-
NM_005055.5(RAPSN):c.680A>G (p.Glu227Gly)	5913	RAPSN	Uncertain significance	-1	RCV003083968\|RCV003090756;	N	MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994	11	47464218	47464218	NC_000011.9:g.47464218T>C	-
NM_005055.5(RAPSN):c.679G>T (p.Glu227Ter)	5913	RAPSN	Pathogenic/Likely pathogenic	2153309050	RCV001783664\|RCV001868867;	N	MedGen:C3661900\|MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994	11	47464219	47464219	47464219	-
NM_005055.5(RAPSN):c.675C>T (p.Ala225=)	5913	RAPSN	Likely benign	-1	RCV003117063;	N	Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994; MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590	11	47464223	47464223		-
NM_005055.5(RAPSN):c.674C>T (p.Ala225Val)	5913	RAPSN	Uncertain significance	1565684828	RCV000696238;	N	MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994	11	47464224	47464224	11:g.47464224G>A	-	C4225367 616326 Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency;
NM_005055.5(RAPSN):c.670_672dup (p.Ser224dup)	5913	RAPSN	Uncertain significance	1555142799	RCV000670976;	N	MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994	11	47464225	47464226	11:g.47464225_47464226insACT	-	C4225367 616326 Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency;
NM_005055.5(RAPSN):c.671G>A (p.Ser224Asn)	5913	RAPSN	Uncertain significance	-1	RCV002695567;	N	MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994	11	47464227	47464227	NC_000011.9:g.47464227C>T	-
NM_005055.5(RAPSN):c.669C>T (p.Gly223=)	5913	RAPSN	Likely benign	1168766907	RCV000978228;	N	Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994; MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590	11	47464229	47464229	11:g.47464229G>A	-
NM_005055.5(RAPSN):c.668G>A (p.Gly223Asp)	5913	RAPSN	Uncertain significance	2153309064	RCV001926976;	N	Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994; MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590	11	47464230	47464230	47464230	-
NM_005055.5(RAPSN):c.667G>A (p.Gly223Ser)	5913	RAPSN	Uncertain significance	138863694	RCV000802269\|RCV001830731\|RCV003133632;	N	MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994\|MONDO:MONDO:0018940,MeSH:D020294,MedGen:C0751882,OMIM:PS601462, Orphanet:590\|MedGen:CN517202	11	47464231	47464231	11:g.47464231C>T	-
NM_005055.5(RAPSN):c.662G>A (p.Arg221His)	5913	RAPSN	Uncertain significance	1377574572	RCV000541515\|RCV001834812;	N	MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994\|MONDO:MONDO:0018940,MeSH:D020294,MedGen:C0751882,OMIM:PS601462, Orphanet:590	11	47464236	47464236	11:g.47464236C>T	ClinGen:CA380331735	C4225367 616326 Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency;
NM_005055.5(RAPSN):c.661C>T (p.Arg221Cys)	5913	RAPSN	Uncertain significance	769989407	RCV001216911\|RCV001833886;	N	MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994\|MONDO:MONDO:0018940,MeSH:D020294,MedGen:C0751882,OMIM:PS601462, Orphanet:590	11	47464237	47464237	11:g.47464237G>A	-
NM_005055.5(RAPSN):c.650G>A (p.Arg217His)	5913	RAPSN	Uncertain significance	763058066	RCV001906986\|RCV003130594;	N	MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994\|MedGen:C3661900	11	47464248	47464248	47464248	-
NM_005055.5(RAPSN):c.649C>T (p.Arg217Cys)	5913	RAPSN	Uncertain significance	766845970	RCV000529053\|RCV001829599\|RCV002497190;	N	MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994\|MONDO:MONDO:0018940,MeSH:D020294,MedGen:C0751882,OMIM:PS601462, Orphanet:590\|MONDO:MONDO:0014588	11	47464249	47464249	11:g.47464249G>A	ClinGen:CA5976687	C4225367 616326 Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency;
NM_005055.5(RAPSN):c.645C>T (p.Ala215=)	5913	RAPSN	Likely benign	1338665465	RCV002120704;	N	Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994; MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590	11	47464253	47464253	47464253	-
NM_005055.5(RAPSN):c.640G>A (p.Val214Met)	5913	RAPSN	Conflicting interpretations of pathogenicity	201124957	RCV000548221\|RCV001103571\|RCV001103570;	N	MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994\|MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590\|Human Phenotype Ontology:HP:000198	11	47464258	47464258	11:g.47464258C>T	ClinGen:CA5976688	C4225367 616326 Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency;
NM_005055.5(RAPSN):c.621G>C (p.Met207Ile)	5913	RAPSN	Uncertain significance	752415268	RCV001988855;	N	MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994	11	47464277	47464277	47464277	-
NM_005055.5(RAPSN):c.614G>A (p.Arg205Gln)	5913	RAPSN	Benign	34625105	RCV000243655\|RCV000282798\|RCV000340125\|RCV000535743\|RCV001275247\|RCV001573313;	N	MedGen:CN169374\|Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994\|MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590\|MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; Human Phenotype On	11	47464284	47464284	11:g.47464284C>T	ClinGen:CA5976694	CN239337 Congenital Myasthenic Syndrome, Recessive;
NM_005055.5(RAPSN):c.613C>T (p.Arg205Trp)	5913	RAPSN	Uncertain significance	756738642	RCV001337181\|RCV001831039;	N	MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994\|MONDO:MONDO:0018940,MeSH:D020294,MedGen:C0751882,OMIM:PS601462, Orphanet:590	11	47464285	47464285	47464285	-
NM_005055.5(RAPSN):c.612C>T (p.Tyr204=)	5913	RAPSN	Likely benign	-1	RCV002647100;	N	MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994	11	47464286	47464286		-
NM_005055.5(RAPSN):c.609G>A (p.Lys203=)	5913	RAPSN	Likely benign	2153309106	RCV002173041;	N	MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994	11	47464289	47464289	47464289	-
NM_005055.5(RAPSN):c.600G>C (p.Trp200Cys)	5913	RAPSN	Uncertain significance	-1	RCV003066712\|RCV003134601;	N	MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994\|MedGen:CN517202	11	47464298	47464298	NC_000011.9:g.47464298C>G	-
NM_005055.5(RAPSN):c.599G>A (p.Trp200Ter)	5913	RAPSN	Pathogenic/Likely pathogenic	1595899478	RCV001385002\|RCV003463001;	N	MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994\|MONDO:MONDO:0100102,MedGen:C4760576,OMIM:618388	11	47464299	47464299	47464299	-
NM_005055.5(RAPSN):c.595G>T (p.Gly199Cys)	5913	RAPSN	Uncertain significance	-1	RCV003071275;	N	MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994	11	47464303	47464303	NC_000011.9:g.47464303C>A	-
NM_005055.5(RAPSN):c.581A>G (p.Asn194Ser)	5913	RAPSN	Uncertain significance	2076375665	RCV001306435\|RCV001830227;	N	Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994; MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590\|MONDO:MONDO:0018940,MeSH:D020294,MedGen:C0751882,OMIM:PS601462, Orphanet:590	11	47464317	47464317	47464317	-
NM_005055.5(RAPSN):c.576T>C (p.Leu192=)	5913	RAPSN	Likely benign	745749798	RCV001499683;	N	Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994; MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590	11	47464322	47464322	47464322	-
NM_005055.5(RAPSN):c.574C>T (p.Leu192Phe)	5913	RAPSN	Uncertain significance	376041895	RCV001948434;	N	Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994; MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590	11	47464324	47464324	47464324	-
NM_005055.5(RAPSN):c.570A>G (p.Ala190=)	5913	RAPSN	Likely benign	1437018541	RCV002076242;	N	MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994	11	47464328	47464328	47464328	-
NM_005055.5(RAPSN):c.570A>T (p.Ala190=)	5913	RAPSN	Likely benign	-1	RCV003089499;	N	MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994	11	47464328	47464328		-
NM_005055.5(RAPSN):c.568G>T (p.Ala190Ser)	5913	RAPSN	Uncertain significance	779881502	RCV000793499\|RCV001825547;	N	MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994\|MONDO:MONDO:0018940,MeSH:D020294,MedGen:C0751882,OMIM:PS601462, Orphanet:590	11	47464330	47464330	11:g.47464330C>A	-
NM_005055.5(RAPSN):c.567G>A (p.Ala189=)	5913	RAPSN	Conflicting interpretations of pathogenicity	886043559	RCV000280235\|RCV001490921;	N	MedGen:CN517202\|Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994; MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590	11	47464331	47464331	11:g.47464331C>T	ClinGen:CA10605659	CN169374 not specified;
NM_005055.5(RAPSN):c.566C>G (p.Ala189Gly)	5913	RAPSN	Uncertain significance	121909257	RCV002012209;	N	MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994	11	47464332	47464332	47464332	-
NM_005055.5(RAPSN):c.563A>G (p.Lys188Arg)	5913	RAPSN	Uncertain significance	1219888816	RCV001298139;	N	Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994; MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590	11	47464335	47464335	47464335	-
NM_005055.5(RAPSN):c.558C>T (p.Pro186=)	5913	RAPSN	Likely benign	773462623	RCV002099067;	N	Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994; MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590	11	47464340	47464340	47464340	-
NM_005055.5(RAPSN):c.549_553dup (p.Phe185fs)	5913	RAPSN	Pathogenic/Likely pathogenic	786200904	RCV000008514\|RCV002512910\|RCV003415679;	N	MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590\|MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994\|	11	47464344	47464345	NC_000011.9:g.47464347_47464351dup	ClinGen:CA212885,OMIM:601592.0003	C4225367 616326 Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency;
NM_005055.5(RAPSN):c.549G>C (p.Leu183=)	5913	RAPSN	Likely benign	1595899529	RCV000905208;	N	Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994; MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590	11	47464349	47464349	11:g.47464349C>G	-
NM_005055.5(RAPSN):c.546_547dup (p.Leu183fs)	5913	RAPSN	Pathogenic	2153309143	RCV001972700;	N	Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994; MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590	11	47464350	47464351	47464350	-
NM_005055.5(RAPSN):c.538G>A (p.Glu180Lys)	5913	RAPSN	Uncertain significance	1452482859	RCV001937875\|RCV002466711;	N	MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994\|MONDO:MONDO:0100102,MedGen:C4760576,OMIM:618388	11	47464360	47464360	47464360	-
NM_005055.5(RAPSN):c.537C>T (p.Tyr179=)	5913	RAPSN	Likely benign	1015604630	RCV001401456;	N	MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994	11	47464361	47464361	47464361	-
NM_005055.5(RAPSN):c.537C>A (p.Tyr179Ter)	5913	RAPSN	Pathogenic	1015604630	RCV001899155;	N	Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994; MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590	11	47464361	47464361	47464361	-
NM_005055.5(RAPSN):c.532-4G>A	5913	RAPSN	Likely benign	553983766	RCV001437378;	N	MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994	11	47464370	47464370	47464370	-
NM_005055.5(RAPSN):c.532-5T>C	5913	RAPSN	Likely benign	1296891027	RCV001419884;	N	MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994	11	47464371	47464371	11:g.47464371A>G	-
NM_005055.5(RAPSN):c.532-8C>T	5913	RAPSN	Likely benign	-1	RCV002590774;	N	MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994	11	47464374	47464374	NC_000011.9:g.47464374G>A	-
NM_005055.5(RAPSN):c.532-12T>C	5913	RAPSN	Likely benign	768129120	RCV002086046;	N	Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994; MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590	11	47464378	47464378	47464378	-
NC_000011.9:g.(?_47467519)_(47469609_?)del	5913	RAPSN	Pathogenic	-1	RCV003116302;	N	Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994; MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590	11	47467519	47469609		-
NC_000011.10:g.(?_47447802)_(47449175_?)del	5913	RAPSN	Pathogenic	-1	RCV001032726;	N	Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994; MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590	11	47469354	47470727	-1	-
NC_000011.9:g.(?_47469354)_(47470726_?)del	5913	RAPSN	Pathogenic	-1	RCV003116303;	N	Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994; MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590	11	47469354	47470726		-
NM_005055.5(RAPSN):c.531+8T>G	5913	RAPSN	Likely benign	2153311112	RCV002152358;	N	Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994; MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590	11	47469356	47469356	47469356	-
NM_005055.5(RAPSN):c.531+7C>G	5913	RAPSN	Likely benign	-1	RCV003035114;	N	MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994	11	47469357	47469357	NC_000011.9:g.47469357G>C	-
NM_005055.5(RAPSN):c.531+1G>T	5913	RAPSN	Pathogenic/Likely pathogenic	1421354085	RCV001379323\|RCV001563594\|RCV001826152\|RCV003462961;	N	MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994\|MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590\|MONDO:MONDO:0018940,MeSH:D020294,M	11	47469363	47469363	47469363	-
NM_005055.5(RAPSN):c.528C>G (p.Val176=)	5913	RAPSN	Likely benign	761149747	RCV001486112;	N	MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994	11	47469367	47469367	47469367	-
NM_005055.5(RAPSN):c.510C>G (p.Gly170=)	5913	RAPSN	Likely benign	1335659789	RCV002155441;	N	Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994; MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590	11	47469385	47469385	47469385	-
NM_005055.5(RAPSN):c.510C>T (p.Gly170=)	5913	RAPSN	Likely benign	-1	RCV002832872;	N	MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994	11	47469385	47469385		-
NM_005055.5(RAPSN):c.504C>T (p.Ser168=)	5913	RAPSN	Likely benign	2153311137	RCV001492508;	N	Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994; MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590	11	47469391	47469391	47469391	-
NM_005055.5(RAPSN):c.495G>C (p.Val165=)	5913	RAPSN	Likely benign	-1	RCV002623734;	N	Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994; MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590	11	47469400	47469400		-
NM_005055.5(RAPSN):c.493G>A (p.Val165Met)	5913	RAPSN	Pathogenic/Likely pathogenic	761584017	RCV001061762\|RCV001508667\|RCV001832551\|RCV003462591;	N	Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994; MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590\|MedGen:C3661900\|MONDO:MONDO:0018940,MeSH:D020294,MedGen:C0751882,OMIM:PS601462, Orphanet:590\|MON	11	47469402	47469402	11:g.47469402C>T	-
NM_005055.5(RAPSN):c.492C>T (p.Arg164=)	5913	RAPSN	Conflicting interpretations of pathogenicity	146237774	RCV000297949\|RCV000405598\|RCV000528123\|RCV001274414\|RCV003133218;	N	Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994\|MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590\|MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; Human Phenotype Ontology:HP:000198	11	47469403	47469403	NC_000011.9:g.47469403G>A	ClinGen:CA5976732	CN239337 Congenital Myasthenic Syndrome, Recessive;
NM_005055.5(RAPSN):c.492C>A (p.Arg164=)	5913	RAPSN	Likely benign	146237774	RCV001441900;	N	Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994; MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590	11	47469403	47469403	47469403	-
NM_005055.5(RAPSN):c.490C>T (p.Arg164Cys)	5913	RAPSN	Pathogenic/Likely pathogenic	104894294	RCV000008520\|RCV000415079\|RCV001343279\|RCV003466839;	N	MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590\|Human Phenotype Ontology:HP:0003198,Human Phenotype Ontology:HP:0003569,Human Phenotype Ontology:HP:0003705,Human Phenotype Ontology:HP:0003742,Human Phenotype Ontology:HP:0003802,MONDO:MONDO:	11	47469405	47469405	11:g.47469405G>A	ClinGen:CA119256,UniProtKB:Q13702#VAR_043901,OMIM:601592.0009	C4225367 616326 Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency;
NM_005055.5(RAPSN):c.490C>G (p.Arg164Gly)	5913	RAPSN	Pathogenic	104894294	RCV001938528;	N	MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994	11	47469405	47469405	47469405	-
NM_005055.5(RAPSN):c.489C>T (p.Cys163=)	5913	RAPSN	Likely benign	1202436612	RCV001467451;	N	Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994; MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590	11	47469406	47469406	47469406	-
NM_005055.5(RAPSN):c.484G>A (p.Glu162Lys)	5913	RAPSN	Pathogenic	121909255	RCV000008522\|RCV001231489\|RCV003460443;	N	MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590\|MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994\|MONDO:MONDO:0100102,MedGen:C476057	11	47469411	47469411	11:g.47469411C>T	ClinGen:CA119258,UniProtKB:Q13702#VAR_043900,OMIM:601592.0011	C4225367 616326 Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency;
NM_005055.5(RAPSN):c.483C>T (p.Leu161=)	5913	RAPSN	Likely benign	754775068	RCV001460505;	N	Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994; MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590	11	47469412	47469412	47469412	-
NM_005055.5(RAPSN):c.479T>C (p.Met160Thr)	5913	RAPSN	Uncertain significance	780985479	RCV001893269\|RCV003130582\|RCV003375411;	N	MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994\|MedGen:C3661900\|MeSH:D030342,MedGen:C0950123	11	47469416	47469416	47469416	-
NM_005055.5(RAPSN):c.475G>A (p.Ala159Thr)	5913	RAPSN	Uncertain significance	199506866	RCV001228173\|RCV001828820\|RCV003132306;	N	Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994; MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590\|MONDO:MONDO:0018940,MeSH:D020294,MedGen:C0751882,OMIM:PS601462, Orphanet:590\|MedGen:C3661900	11	47469420	47469420	11:g.47469420C>T	-
NM_005055.5(RAPSN):c.474C>T (p.Asp158=)	5913	RAPSN	Conflicting interpretations of pathogenicity	56245238	RCV000247109\|RCV000355174\|RCV000404374\|RCV000726774\|RCV001080568\|RCV001275248;	N	MedGen:CN169374\|Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994\|MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590\|MedGen:C3661900\|MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; Hu	11	47469421	47469421	11:g.47469421G>A	ClinGen:CA5976738	CN239337 Congenital Myasthenic Syndrome, Recessive;
NM_005055.5(RAPSN):c.468TGA[1] (p.Asp158del)	5913	RAPSN	Uncertain significance	1595902555	RCV000820506\|RCV001830802;	N	Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994; MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590\|MONDO:MONDO:0018940,MeSH:D020294,MedGen:C0751882,OMIM:PS601462, Orphanet:590	11	47469422	47469424	11:g.47469422_47469424del	-
NM_005055.5(RAPSN):c.459C>T (p.Ala153=)	5913	RAPSN	Likely benign	780030892	RCV002005436;	N	MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994	11	47469436	47469436	47469436	-
NM_005055.5(RAPSN):c.457G>A (p.Ala153Thr)	5913	RAPSN	Conflicting interpretations of pathogenicity	142635726	RCV000850591\|RCV001105500\|RCV001105501\|RCV003330969\|RCV003467530;	N	Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994; MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590\|Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:99	11	47469438	47469438	11:g.47469438C>T	-
NM_005055.5(RAPSN):c.456_457delinsCT (p.Ala153Ser)	5913	RAPSN	Likely benign	1595902592	RCV000873260;	N	Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994; MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590	11	47469438	47469439	NC_000011.9:g.47469438_47469439delinsAG	-
NM_005055.5(RAPSN):c.457G>T (p.Ala153Ser)	5913	RAPSN	Conflicting interpretations of pathogenicity	142635726	RCV001105498\|RCV001105499\|RCV003142048\|RCV002558054;	N	MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590\|Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994\|MedGen:C3661900\|Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:20	11	47469438	47469438	11:g.47469438C>A	-
NM_005055.5(RAPSN):c.456_457inv (p.Ala153Thr)	5913	RAPSN	Uncertain significance	-1	RCV001231749;	N	Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994; MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590	11	47469438	47469439	NC_000011.9:g.47469438_47469439inv	-
NM_005055.5(RAPSN):c.456T>C (p.Tyr152=)	5913	RAPSN	Benign	7111873	RCV000118119\|RCV000315533\|RCV000367686\|RCV001275249\|RCV001520681\|RCV001795177;	N	MedGen:CN169374\|Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994\|MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590\|MONDO:MONDO:0018940,MeSH:D020294,MedGen:C0751882,OMIM:PS601462, Orphanet:590\|Hum	11	47469439	47469439	11:g.47469439A>G	ClinGen:CA154876	CN239337 Congenital Myasthenic Syndrome, Recessive;
NM_005055.5(RAPSN):c.451C>T (p.Arg151Cys)	5913	RAPSN	Uncertain significance	148600999	RCV001248742\|RCV001830051\|RCV003132356;	N	Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994; MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590\|MONDO:MONDO:0018940,MeSH:D020294,MedGen:C0751882,OMIM:PS601462, Orphanet:590\|MedGen:CN517202	11	47469444	47469444	11:g.47469444G>A	-
NM_005055.5(RAPSN):c.447C>T (p.Ala149=)	5913	RAPSN	Likely benign	2153311191	RCV002089226;	N	Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994; MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590	11	47469448	47469448	47469448	-
NM_005055.5(RAPSN):c.445G>A (p.Ala149Thr)	5913	RAPSN	Uncertain significance	1198813718	RCV000653218\|RCV003129972;	N	Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994; MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590\|MedGen:CN517202	11	47469450	47469450	NC_000011.9:g.47469450C>T	ClinGen:CA380333929	C4225367 616326 Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency;
NM_005055.5(RAPSN):c.441G>A (p.Glu147=)	5913	RAPSN	Likely benign	-1	RCV002608158;	N	MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994	11	47469454	47469454		-
NM_005055.5(RAPSN):c.439G>A (p.Glu147Lys)	5913	RAPSN	Pathogenic/Likely pathogenic	560525099	RCV000432123\|RCV001731679\|RCV002466497\|RCV002519529;	N	MedGen:C3661900\|MedGen:CN239397\|MONDO:MONDO:0100102,MedGen:C4760576,OMIM:618388\|MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994	11	47469456	47469456	11:g.47469456C>T	ClinGen:CA5976743	CN517202 not provided;
NM_005055.5(RAPSN):c.438C>T (p.Phe146=)	5913	RAPSN	Likely benign	1459059463	RCV002132602;	N	Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994; MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590	11	47469457	47469457	47469457	-
NM_005055.5(RAPSN):c.429G>C (p.Leu143=)	5913	RAPSN	Uncertain significance	762052702	RCV000275433\|RCV000328229;	N	Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994\|MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590	11	47469466	47469466	NC_000011.9:g.47469466C>G	ClinGen:CA10631027	CN239337 Congenital Myasthenic Syndrome, Recessive;
NM_005055.5(RAPSN):c.429G>A (p.Leu143=)	5913	RAPSN	Likely benign	762052702	RCV000908341\|RCV001274415;	N	Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994; MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590\|MONDO:MONDO:0018940,MeSH:D020294,MedGen:C0751882,OMIM:PS601462, Orphanet:590	11	47469466	47469466	11:g.47469466C>T	-
NM_005055.5(RAPSN):c.425C>A (p.Ala142Asp)	5913	RAPSN	Conflicting interpretations of pathogenicity	368695664	RCV001066055\|RCV001797818\|RCV001559969\|RCV003467832;	N	Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994; MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590\|MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0100102,MedGen:C4760576,OMIM:618388	11	47469470	47469470	11:g.47469470G>T	-
NM_005055.5(RAPSN):c.424_425insTGTCTCCTCTATATAAATGCGTAGGGGTTTTAGTTAAATGTCCTTTGAAGTATACTTGAGGAGGGTGAC	5913	RAPSN	Pathogenic	-1	RCV002885426;	N	MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994	11	47469470	47469471	NC_000011.9:g.47469471_47469472insTTAGTTGAACAGGGTAGAGTGCTTAGTTGAACAGGGCCCTGAAGCGCGTACACACCGCCCGTCACCCTCCTCAAGTATACTTCAAAGGACATTTAACTAAAACCCCTACGCATTTA	-
NM_005055.5(RAPSN):c.423G>A (p.Lys141=)	5913	RAPSN	Likely benign	2153311227	RCV002159469;	N	Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994; MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590	11	47469472	47469472	47469472	-
NM_005055.5(RAPSN):c.418C>T (p.Gln140Ter)	5913	RAPSN	Pathogenic/Likely pathogenic	2153311231	RCV001382472\|RCV003469677;	N	MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994\|MONDO:MONDO:0100102,MedGen:C4760576,OMIM:618388	11	47469477	47469477	47469477	-
NM_005055.5(RAPSN):c.412G>A (p.Val138Ile)	5913	RAPSN	Conflicting interpretations of pathogenicity	35810986	RCV000269370\|RCV000366609\|RCV000810152\|RCV001276398\|RCV002480112;	N	Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994\|MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590\|MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; Human Phenotype Ontology:HP:000198	11	47469483	47469483	NC_000011.9:g.47469483C>T	ClinGen:CA5976748	CN239337 Congenital Myasthenic Syndrome, Recessive;
NM_005055.5(RAPSN):c.408C>T (p.Leu136=)	5913	RAPSN	Likely benign	1466576877	RCV001426388;	N	MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994	11	47469487	47469487	47469487	-
NM_005055.5(RAPSN):c.404G>A (p.Gly135Asp)	5913	RAPSN	Uncertain significance	-1	RCV003005003;	N	MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994	11	47469491	47469491	NC_000011.9:g.47469491C>T	-
NM_005055.5(RAPSN):c.380T>C (p.Leu127Pro)	5913	RAPSN	Uncertain significance	2153311254	RCV001955476;	N	Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994; MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590	11	47469515	47469515	47469515	-
NM_005055.5(RAPSN):c.375C>T (p.Val125=)	5913	RAPSN	Likely benign	-1	RCV002715038;	N	MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994	11	47469520	47469520		-
NM_005055.5(RAPSN):c.370C>T (p.Gln124Ter)	5913	RAPSN	Pathogenic/Likely pathogenic	1479498379	RCV000534807\|RCV003114675\|RCV003470767;	N	Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994; MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590\|MONDO:MONDO:0018940,MeSH:D020294,MedGen:C0751882,OMIM:PS601462, Orphanet:590\|MONDO:MONDO:0100102	11	47469525	47469525	NC_000011.9:g.47469525G>A	ClinGen:CA380334223	C4225367 616326 Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency;
NM_005055.5(RAPSN):c.369C>T (p.Gly123=)	5913	RAPSN	Likely benign	-1	RCV002919064;	N	MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994	11	47469526	47469526		-
NM_005055.5(RAPSN):c.364G>A (p.Gly122Arg)	5913	RAPSN	Uncertain significance	150756111	RCV001106664\|RCV001106665\|RCV001279260\|RCV002556089\|RCV002556090\|RCV002505680;	N	Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994\|MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590\|MONDO:MONDO:0018940,MeSH:D020294,MedGen:C0751882,OMIM:PS601462, Orphanet:590\|Human Phenotype Ont	11	47469531	47469531	11:g.47469531C>T	-
NM_005055.5(RAPSN):c.363C>T (p.Leu121=)	5913	RAPSN	Benign/Likely benign	190548363	RCV000558762\|RCV001106666\|RCV001108814;	N	MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994\|Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:99	11	47469532	47469532	11:g.47469532G>A	ClinGen:CA5976757	C4225367 616326 Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency;
NM_005055.5(RAPSN):c.363C>G (p.Leu121=)	5913	RAPSN	Likely benign	190548363	RCV002187073;	N	Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994; MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590	11	47469532	47469532	47469532	-
NM_005055.5(RAPSN):c.360G>T (p.Gln120His)	5913	RAPSN	Uncertain significance	780338213	RCV000326705\|RCV000378983\|RCV000803868\|RCV001833443\|RCV002520727;	N	Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994\|MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590\|Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:99	11	47469535	47469535	NC_000011.9:g.47469535C>A	ClinGen:CA5976758	CN239337 Congenital Myasthenic Syndrome, Recessive;
NM_005055.5(RAPSN):c.360G>A (p.Gln120=)	5913	RAPSN	Likely benign	-1	RCV002962798;	N	MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994	11	47469535	47469535		-
NM_005055.5(RAPSN):c.358C>T (p.Gln120Ter)	5913	RAPSN	Pathogenic	2076422949	RCV001209146;	N	MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994	11	47469537	47469537	11:g.47469537G>A	-
NM_005055.5(RAPSN):c.358del (p.Gln120fs)	5913	RAPSN	Pathogenic	-1	RCV003062377;	N	MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994	11	47469537	47469537	NC_000011.9:g.47469539del	-
NM_005055.5(RAPSN):c.357C>T (p.Ala119=)	5913	RAPSN	Likely benign	1595902752	RCV000982270;	N	Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994; MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590	11	47469538	47469538	11:g.47469538G>A	-
NM_005055.5(RAPSN):c.345C>A (p.Thr115=)	5913	RAPSN	Likely benign	1353205717	RCV001396861;	N	MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994	11	47469550	47469550	47469550	-
NM_005055.5(RAPSN):c.345C>T (p.Thr115=)	5913	RAPSN	Likely benign	-1	RCV002933180;	N	MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994	11	47469550	47469550		-
NM_005055.5(RAPSN):c.339T>C (p.Pro113=)	5913	RAPSN	Likely benign	-1	RCV003075393;	N	MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994	11	47469556	47469556		-
NC_000011.9:g.(?_47469557)_(47478800_?)del	5913	RAPSN	Pathogenic	-1	RCV001956401;	N	MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994	11	47469557	47478800	-1	-
NM_005055.5(RAPSN):c.336G>T (p.Leu112=)	5913	RAPSN	Likely benign	747080013	RCV000913674;	N	Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994; MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590	11	47469559	47469559	11:g.47469559C>A	-
NM_005055.5(RAPSN):c.333G>T (p.Gly111=)	5913	RAPSN	Likely benign	2153311277	RCV001491626;	N	Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994; MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590	11	47469562	47469562	47469562	-
NM_005055.5(RAPSN):c.328C>T (p.Leu110Phe)	5913	RAPSN	Uncertain significance	1164228546	RCV001298218\|RCV001836260;	N	Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994; MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590\|MONDO:MONDO:0018940,MeSH:D020294,MedGen:C0751882,OMIM:PS601462, Orphanet:590	11	47469567	47469567	47469567	-
NM_005055.5(RAPSN):c.327C>T (p.Cys109=)	5913	RAPSN	Likely benign	769245608	RCV002169947;	N	Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994; MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590	11	47469568	47469568	47469568	-
NM_005055.5(RAPSN):c.325T>G (p.Cys109Gly)	5913	RAPSN	Uncertain significance	2076423375	RCV001337285\|RCV001836322;	N	MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994\|MONDO:MONDO:0018940,MeSH:D020294,MedGen:C0751882,OMIM:PS601462, Orphanet:590	11	47469570	47469570	47469570	-
NM_005055.5(RAPSN):c.321G>A (p.Lys107=)	5913	RAPSN	Likely benign	781529364	RCV001432835;	N	Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994; MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590	11	47469574	47469574	11:g.47469574C>T	-
NM_005055.5(RAPSN):c.300_319del (p.His100fs)	5913	RAPSN	Pathogenic/Likely pathogenic	2153311290	RCV002541162\|RCV003464136;	N	Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994; MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590\|MONDO:MONDO:0100102,MedGen:C4760576,OMIM:618388	11	47469576	47469595	47469575	-
NM_005055.5(RAPSN):c.318C>A (p.Cys106Ter)	5913	RAPSN	Pathogenic	2076423585	RCV001929616;	N	MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994	11	47469577	47469577	47469577	-
NM_005055.5(RAPSN):c.317G>A (p.Cys106Tyr)	5913	RAPSN	Uncertain significance	1341207988	RCV001373240\|RCV001826114;	N	Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994; MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590\|MONDO:MONDO:0018940,MeSH:D020294,MedGen:C0751882,OMIM:PS601462, Orphanet:590	11	47469578	47469578	47469578	-
NM_005055.5(RAPSN):c.316T>C (p.Cys106Arg)	5913	RAPSN	Uncertain significance	777801296	RCV001321613;	N	MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994	11	47469579	47469579	47469579	-
NM_005055.5(RAPSN):c.310T>G (p.Ser104Ala)	5913	RAPSN	Uncertain significance	770016019	RCV002035901;	N	Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994; MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590	11	47469585	47469585	47469585	-
NM_005055.5(RAPSN):c.297del (p.His100fs)	5913	RAPSN	Pathogenic	2153311310	RCV001941764;	N	Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994; MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590	11	47469598	47469598	47469597	-
NM_005055.5(RAPSN):c.294G>A (p.Glu98=)	5913	RAPSN	Likely benign	1331228474	RCV001497456;	N	MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994	11	47469601	47469601	47469601	-
NM_005055.5(RAPSN):c.291C>A (p.Cys97Ter)	5913	RAPSN	Pathogenic	749287203	RCV001387007\|RCV001826172\|RCV001780357;	N	Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994; MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590\|MONDO:MONDO:0018940,MeSH:D020294,MedGen:C0751882,OMIM:PS601462, Orphanet:590\|MedGen:C3661900	11	47469604	47469604	47469604	-
NM_005055.5(RAPSN):c.290G>A (p.Cys97Tyr)	5913	RAPSN	Uncertain significance	2153311318	RCV001933592\|RCV003130613;	N	MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994\|MedGen:C3661900	11	47469605	47469605	47469605	-
NM_005055.5(RAPSN):c.286C>T (p.Leu96=)	5913	RAPSN	Likely benign	-1	RCV002604229;	N	MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994	11	47469609	47469609		-
NM_005055.5(RAPSN):c.282G>A (p.Glu94=)	5913	RAPSN	Likely benign	2153311324	RCV001396375;	N	MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994	11	47469613	47469613	47469613	-
NM_005055.5(RAPSN):c.282G>C (p.Glu94Asp)	5913	RAPSN	Uncertain significance	-1	RCV003104587;	N	MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994	11	47469613	47469613	NC_000011.9:g.47469613C>G	-
NM_005055.5(RAPSN):c.280G>A (p.Glu94Lys)	5913	RAPSN	Conflicting interpretations of pathogenicity	-1	RCV002281800\|RCV003101625\|RCV003336519\|RCV003134420\|RCV003464433;	N	MedGen:CN169374\|Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994; MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590\|MedGen:CN239397\|MedGen:C3661900\|MONDO:MONDO:0100102,MedGen:C4760576,OMIM:618388	11	47469615	47469615	47469615	-
NM_005055.5(RAPSN):c.279C>T (p.Asn93=)	5913	RAPSN	Likely benign	901210204	RCV001279261\|RCV001397962;	N	MONDO:MONDO:0018940,MeSH:D020294,MedGen:C0751882,OMIM:PS601462, Orphanet:590\|Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994; MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590	11	47469616	47469616	11:g.47469616G>A	-
NM_005055.5(RAPSN):c.272G>C (p.Arg91Pro)	5913	RAPSN	Likely pathogenic	375218091	RCV002034290;	N	MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994	11	47469623	47469623	47469623	-
NM_005055.5(RAPSN):c.272G>A (p.Arg91His)	5913	RAPSN	Likely pathogenic	375218091	RCV001892251;	N	Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994; MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590	11	47469623	47469623	47469623	-
NM_005055.5(RAPSN):c.271C>T (p.Arg91Cys)	5913	RAPSN	Likely pathogenic	767507908	RCV000443235\|RCV001833532\|RCV001861510;	N	MedGen:CN517202\|MONDO:MONDO:0018940,MeSH:D020294,MedGen:C0751882,OMIM:PS601462, Orphanet:590\|Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994; MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590	11	47469624	47469624	11:g.47469624G>A	ClinGen:CA5976769	CN517202 not provided;
NM_005055.5(RAPSN):c.265C>G (p.Leu89Val)	5913	RAPSN	Uncertain significance	543224303	RCV001243891\|RCV001836225\|RCV003132341;	N	Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994; MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590\|MONDO:MONDO:0018940,MeSH:D020294,MedGen:C0751882,OMIM:PS601462, Orphanet:590\|MedGen:CN517202	11	47469630	47469630	11:g.47469630G>C	-
NM_005055.5(RAPSN):c.265C>T (p.Leu89=)	5913	RAPSN	Likely benign	-1	RCV002866557;	N	MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994	11	47469630	47469630		-
NM_005055.5(RAPSN):c.264C>A (p.Asn88Lys)	5913	RAPSN	Pathogenic/Likely pathogenic	104894299	RCV000008512\|RCV000170316\|RCV000224062\|RCV000235028\|RCV000286918\|RCV000414829\|RCV000477955\|RCV002512909\|RCV003466838;	N	MONDO:MONDO:0012157,MedGen:C1837091,OMIM:608931, Orphanet:590\|MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590\|MedGen:C3661900\|MONDO:MONDO:0018940,MeSH:D020294,MedGen:C0751882,OMIM:PS601462, Orphanet:590\|Human Phenotype Ontology:HP:0001989,MON	11	47469631	47469631	NC_000011.9:g.47469631G>T	ClinGen:CA199511,UniProtKB:Q13702#VAR_021217,OMIM:601592.0001
NM_005055.5(RAPSN):c.251A>C (p.Glu84Ala)	5913	RAPSN	Uncertain significance	-1	RCV002595237;	N	Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994; MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590	11	47469644	47469644	NC_000011.9:g.47469644T>G	-
NM_005055.5(RAPSN):c.248T>A (p.Leu83Gln)	5913	RAPSN	Uncertain significance	2076424527	RCV001313536\|RCV001835542;	N	Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994; MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590\|MONDO:MONDO:0018940,MeSH:D020294,MedGen:C0751882,OMIM:PS601462, Orphanet:590	11	47469647	47469647	47469647	-
NM_005055.5(RAPSN):c.246C>T (p.Leu82=)	5913	RAPSN	Likely benign	780420252	RCV000895353;	N	Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994; MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590	11	47469649	47469649	11:g.47469649G>A	-
NM_005055.5(RAPSN):c.246C>G (p.Leu82=)	5913	RAPSN	Likely benign	780420252	RCV001456607;	N	Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994; MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590	11	47469649	47469649	47469649	-
NM_005055.5(RAPSN):c.241T>C (p.Phe81Leu)	5913	RAPSN	Benign	57878668	RCV000224573\|RCV000249697\|RCV000281223\|RCV000378082\|RCV001082714\|RCV001833233;	N	MedGen:C3661900\|MedGen:CN169374\|Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994\|MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590\|MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; Hu	11	47469654	47469654	11:g.47469654A>G	ClinGen:CA5976776,UniProtKB:Q13702#VAR_062142	CN239337 Congenital Myasthenic Syndrome, Recessive;
NM_005055.5(RAPSN):c.238G>A (p.Asp80Asn)	5913	RAPSN	Uncertain significance	781724566	RCV001935700\|RCV003130601;	N	MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994\|MedGen:C3661900	11	47469657	47469657	47469657	-
NM_005055.5(RAPSN):c.237C>T (p.Ala79=)	5913	RAPSN	Likely benign	888989685	RCV001481881;	N	Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994; MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590	11	47469658	47469658	47469658	-
NM_005055.5(RAPSN):c.233A>T (p.Asp78Val)	5913	RAPSN	Uncertain significance	1007398586	RCV001972904;	N	Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994; MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590	11	47469662	47469662	47469662	-
NM_005055.5(RAPSN):c.232G>A (p.Asp78Asn)	5913	RAPSN	Uncertain significance	1198989939	RCV000687682\|RCV003129992;	N	Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994; MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590\|MedGen:CN517202	11	47469663	47469663	NC_000011.9:g.47469663C>T	-	C4225367 616326 Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency;
NM_005055.5(RAPSN):c.228G>A (p.Leu76=)	5913	RAPSN	Likely benign	2153311384	RCV001484649;	N	Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994; MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590	11	47469667	47469667	47469667	-
NM_005055.5(RAPSN):c.225G>A (p.Glu75=)	5913	RAPSN	Likely benign	147923114	RCV001502287;	N	Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994; MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590	11	47469670	47469670	47469670	-
NM_005055.5(RAPSN):c.221G>A (p.Arg74Gln)	5913	RAPSN	Uncertain significance	568433059	RCV000807513;	N	Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994; MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590	11	47469674	47469674	11:g.47469674C>T	-
NM_005055.5(RAPSN):c.220C>T (p.Arg74Trp)	5913	RAPSN	Uncertain significance	778157857	RCV000793761\|RCV001825550;	N	MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994\|MONDO:MONDO:0018940,MeSH:D020294,MedGen:C0751882,OMIM:PS601462, Orphanet:590	11	47469675	47469675	11:g.47469675G>A	-
NM_005055.5(RAPSN):c.219C>G (p.Ala73=)	5913	RAPSN	Likely benign	2076424955	RCV001456302;	N	Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994; MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590	11	47469676	47469676	47469676	-
NM_005055.5(RAPSN):c.216G>A (p.Thr72=)	5913	RAPSN	Likely benign	141877523	RCV000517255\|RCV000653221;	N	MedGen:C3661900\|MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994	11	47469679	47469679	11:g.47469679C>T	ClinGen:CA5976781	C4225367 616326 Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency;
NM_005055.5(RAPSN):c.215C>T (p.Thr72Met)	5913	RAPSN	Uncertain significance	770633491	RCV000802065\|RCV001275250\|RCV002495080\|RCV003133628;	N	MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994\|MONDO:MONDO:0018940,MeSH:D020294,MedGen:C0751882,OMIM:PS601462, Orphanet:590\|MONDO:MONDO:0014588	11	47469680	47469680	11:g.47469680G>A	-
NM_005055.5(RAPSN):c.211G>A (p.Asp71Asn)	5913	RAPSN	Uncertain significance	150051760	RCV001904746;	N	MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994	11	47469684	47469684	47469684	-
NM_005055.5(RAPSN):c.210del (p.Ile70fs)	5913	RAPSN	Pathogenic/Likely pathogenic	760999895	RCV001950912\|RCV003464308;	N	Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994; MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590\|MONDO:MONDO:0100102,MedGen:C4760576,OMIM:618388	11	47469685	47469685	47469684	-
NM_005055.5(RAPSN):c.210C>T (p.Ile70=)	5913	RAPSN	Likely benign	773975835	RCV002137219;	N	MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994	11	47469685	47469685	47469685	-
NM_005055.5(RAPSN):c.210C>A (p.Ile70=)	5913	RAPSN	Likely benign	-1	RCV002871807;	N	MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994	11	47469685	47469685		-
NM_005055.5(RAPSN):c.205C>G (p.Gln69Glu)	5913	RAPSN	Uncertain significance	1565688293	RCV000703914;	N	MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994	11	47469690	47469690	NC_000011.9:g.47469690G>C	-	C4225367 616326 Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency;
NM_005055.5(RAPSN):c.202G>A (p.Val68Ile)	5913	RAPSN	Uncertain significance	200892332	RCV001108815\|RCV001108816\|RCV001279262\|RCV003132232\|RCV002556126;	N	MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590\|Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994\|MONDO:MONDO:0018940,MeSH:D020294,MedGen:C0751882,OMIM:PS601462, Orphanet:590\|MedGen:CN517202\|Hum	11	47469693	47469693	11:g.47469693C>T	-
NM_005055.5(RAPSN):c.198T>G (p.Ala66=)	5913	RAPSN	Likely benign	1131389	RCV001506961;	N	Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994; MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590	11	47469697	47469697	47469697	-
NM_005055.5(RAPSN):c.196G>A (p.Ala66Thr)	5913	RAPSN	Uncertain significance	145197671	RCV000687777\|RCV001829902\|RCV003133514;	N	Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994; MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590\|MONDO:MONDO:0018940,MeSH:D020294,MedGen:C0751882,OMIM:PS601462, Orphanet:590\|MedGen:C3661900	11	47469699	47469699	NC_000011.9:g.47469699C>T	-	C4225367 616326 Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency;
NM_005055.5(RAPSN):c.195C>T (p.Phe65=)	5913	RAPSN	Likely benign	772563068	RCV001452457;	N	Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994; MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590	11	47469700	47469700	11:g.47469700G>A	-
NM_005055.5(RAPSN):c.193-2A>C	5913	RAPSN	Likely pathogenic	1595902947	RCV002290990;	N	MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590	11	47469704	47469704	11:g.47469704T>G	-
NM_005055.5(RAPSN):c.193-4G>A	5913	RAPSN	Likely benign	-1	RCV003049738;	N	MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994	11	47469706	47469706	NC_000011.9:g.47469706C>T	-
NM_005055.5(RAPSN):c.193-8G>T	5913	RAPSN	Likely benign	-1	RCV002611135;	N	Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994; MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590	11	47469710	47469710	NC_000011.9:g.47469710C>A	-
NM_005055.5(RAPSN):c.193-10C>T	5913	RAPSN	Likely benign	2153311437	RCV001392336;	N	Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994; MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590	11	47469712	47469712	47469712	-
NM_005055.5(RAPSN):c.193-11G>A	5913	RAPSN	Likely benign	-1	RCV002937568;	N	MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994	11	47469713	47469713	NC_000011.9:g.47469713C>T	-
NM_005055.5(RAPSN):c.193-14G>A	5913	RAPSN	Benign/Likely benign	114738594	RCV000614382\|RCV001103664\|RCV001103665\|RCV002066747;	N	MedGen:CN169374\|MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590\|Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994\|Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:20	11	47469716	47469716	11:g.47469716C>T	ClinGen:CA5976793	CN169374 not specified;
NM_005055.5(RAPSN):c.193-15C>A	5913	RAPSN	Uncertain significance	45547231	RCV000008519\|RCV001851739;	N	MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590\|MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994	11	47469717	47469717	NC_000011.9:g.47469717G>T	ClinGen:CA212887,OMIM:601592.0008	C4225367 616326 Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency;
NM_005055.5(RAPSN):c.193-15C>T	5913	RAPSN	Benign	45547231	RCV000246555\|RCV000338570\|RCV000371752\|RCV001275251\|RCV001538026\|RCV002058178;	N	MedGen:CN169374\|MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590\|Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994\|MONDO:MONDO:0018940,MeSH:D020294,MedGen:C0751882,OMIM:PS601462, Orphanet:590\|MON	11	47469717	47469717	NC_000011.9:g.47469717G>A	ClinGen:CA5976794	CN239337 Congenital Myasthenic Syndrome, Recessive;
NM_005055.5(RAPSN):c.193-18C>T	5913	RAPSN	Likely benign	-1	RCV002893881;	N	MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994	11	47469720	47469720	NC_000011.9:g.47469720G>A	-
NM_005055.5(RAPSN):c.192+17T>C	5913	RAPSN	Likely benign	-1	RCV002634645;	N	MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994	11	47470308	47470308	NC_000011.9:g.47470308A>G	-
NM_005055.5(RAPSN):c.192+12C>T	5913	RAPSN	Conflicting interpretations of pathogenicity	774654232	RCV000279556\|RCV000350937\|RCV002056208;	N	MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590\|Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994\|Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:99	11	47470313	47470313	NC_000011.9:g.47470313G>A	ClinGen:CA5976812	CN239337 Congenital Myasthenic Syndrome, Recessive;
NM_005055.5(RAPSN):c.192+10C>A	5913	RAPSN	Likely benign	1202888760	RCV001497967;	N	MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994	11	47470315	47470315	47470315	-
NM_005055.5(RAPSN):c.192+10C>T	5913	RAPSN	Likely benign	1202888760	RCV002186319;	N	MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994	11	47470315	47470315	47470315	-
NM_005055.5(RAPSN):c.192+9dup	5913	RAPSN	Likely benign	2153311675	RCV002124412;	N	Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994; MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590	11	47470315	47470316	47470315	-
NM_005055.5(RAPSN):c.192+8T>C	5913	RAPSN	Likely benign	759724477	RCV001490702;	N	Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994; MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590	11	47470317	47470317	47470317	-
NM_005055.5(RAPSN):c.192+7G>T	5913	RAPSN	Likely benign	767745050	RCV002192724;	N	Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994; MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590	11	47470318	47470318	47470318	-
NM_005055.5(RAPSN):c.192+7G>A	5913	RAPSN	Likely benign	-1	RCV002904794;	N	MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994	11	47470318	47470318	NC_000011.9:g.47470318C>T	-
NM_005055.5(RAPSN):c.192+5G>T	5913	RAPSN	Uncertain significance	-1	RCV003083222;	N	MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994	11	47470320	47470320	NC_000011.9:g.47470320C>A	-
NM_005055.5(RAPSN):c.183G>A (p.Glu61=)	5913	RAPSN	Likely benign	-1	RCV002785960;	N	MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994	11	47470334	47470334		-
NM_005055.5(RAPSN):c.178A>C (p.Lys60Gln)	5913	RAPSN	Uncertain significance	1380619456	RCV001872735\|RCV003134172\|RCV002506929\|RCV003164216;	N	Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994; MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590\|MedGen:C3661900\|MONDO:MONDO:0100102,MedGen:C4760576,OMIM:618388; MONDO:MONDO:0014588,MedGen:C422	11	47470339	47470339	47470339	-
NM_005055.5(RAPSN):c.176A>G (p.Tyr59Cys)	5913	RAPSN	Uncertain significance	2153311689	RCV001981507\|RCV003134285;	N	Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994; MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590\|MedGen:C3661900	11	47470341	47470341	47470341	-
NM_005055.5(RAPSN):c.175T>C (p.Tyr59His)	5913	RAPSN	Uncertain significance	1555143594	RCV000557904;	N	MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994	11	47470342	47470342	11:g.47470342A>G	ClinGen:CA380335761	C4225367 616326 Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency;
NM_005055.5(RAPSN):c.174C>A (p.Arg58=)	5913	RAPSN	Likely benign	2153311690	RCV002180459;	N	Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994; MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590	11	47470343	47470343	47470343	-
NM_005055.5(RAPSN):c.173G>A (p.Arg58His)	5913	RAPSN	Uncertain significance	373437117	RCV001913571;	N	MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994	11	47470344	47470344	47470344	-
NM_005055.5(RAPSN):c.172C>T (p.Arg58Cys)	5913	RAPSN	Benign/Likely benign	34312154	RCV000118118\|RCV000311015\|RCV000390783\|RCV001521377\|RCV001275252\|RCV001538027;	N	MedGen:CN169374\|Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994\|MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590\|Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:20	11	47470345	47470345	11:g.47470345G>A	ClinGen:CA154874	CN239337 Congenital Myasthenic Syndrome, Recessive;
NM_005055.5(RAPSN):c.171C>T (p.Gly57=)	5913	RAPSN	Likely benign	-1	RCV002756937;	N	MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994	11	47470346	47470346		-
NM_005055.5(RAPSN):c.162G>A (p.Ser54=)	5913	RAPSN	Conflicting interpretations of pathogenicity	72905825	RCV000246056\|RCV000545779\|RCV001105612\|RCV001105613\|RCV001705366;	N	MedGen:CN169374\|MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994\|MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590\|Human Phenotype On	11	47470355	47470355	11:g.47470355C>T	ClinGen:CA5976819	C4225367 616326 Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency;
NM_005055.5(RAPSN):c.161C>T (p.Ser54Leu)	5913	RAPSN	Uncertain significance	750772292	RCV000792822\|RCV001825544;	N	MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994\|MONDO:MONDO:0018940,MeSH:D020294,MedGen:C0751882,OMIM:PS601462, Orphanet:590	11	47470356	47470356	11:g.47470356G>A	-
NM_005055.5(RAPSN):c.157C>T (p.His53Tyr)	5913	RAPSN	Uncertain significance	2076431469	RCV001890176;	N	Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994; MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590	11	47470360	47470360	47470360	-
NM_005055.5(RAPSN):c.156C>T (p.Ala52=)	5913	RAPSN	Likely benign	-1	RCV002893902;	N	MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994	11	47470361	47470361		-
NM_005055.5(RAPSN):c.150C>A (p.Val50=)	5913	RAPSN	Likely benign	768214983	RCV002140816;	N	MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994	11	47470367	47470367	47470367	-
NM_005055.5(RAPSN):c.140G>A (p.Gly47Asp)	5913	RAPSN	Uncertain significance	201725858	RCV001105615\|RCV001105614\|RCV001279263\|RCV003130156\|RCV002558056;	N	Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994\|MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590\|MONDO:MONDO:0018940,MeSH:D020294,MedGen:C0751882,OMIM:PS601462, Orphanet:590\|MedGen:C3661900\|Hum	11	47470377	47470377	11:g.47470377C>T	-
NM_005055.5(RAPSN):c.133G>A (p.Val45Met)	5913	RAPSN	Pathogenic/Likely pathogenic	121909254	RCV000008521\|RCV000704275\|RCV000992743\|RCV001275253\|RCV002476946\|RCV003460442;	N	MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590\|MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994\|MedGen:C3661900\|MONDO:MONDO:001894	11	47470384	47470384	11:g.47470384C>T	ClinGen:CA119257,UniProtKB:Q13702#VAR_043898,OMIM:601592.0010	C4225367 616326 Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency;
NM_005055.5(RAPSN):c.133G>T (p.Val45Leu)	5913	RAPSN	Likely pathogenic	-1	RCV002579002;	N	Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994; MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590	11	47470384	47470384	NC_000011.9:g.47470384C>A	-
NM_005055.5(RAPSN):c.132C>T (p.Arg44=)	5913	RAPSN	Likely benign	772917848	RCV001491671;	N	Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994; MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590	11	47470385	47470385	47470385	-
NM_005055.5(RAPSN):c.125G>A (p.Arg42His)	5913	RAPSN	Uncertain significance	-1	RCV002765567;	N	MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994	11	47470392	47470392	NC_000011.9:g.47470392C>T	-
NM_005055.5(RAPSN):c.124C>T (p.Arg42Cys)	5913	RAPSN	Uncertain significance	201197735	RCV002034336;	N	MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994	11	47470393	47470393	47470393	-
NM_005055.5(RAPSN):c.123del (p.Arg42fs)	5913	RAPSN	Pathogenic	-1	RCV003224949;	N	MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590	11	47470394	47470394		-
NM_005055.5(RAPSN):c.115C>G (p.Leu39Val)	5913	RAPSN	Uncertain significance	-1	RCV003084623;	N	MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994	11	47470402	47470402	NC_000011.9:g.47470402G>C	-
NM_005055.5(RAPSN):c.115C>T (p.Leu39Phe)	5913	RAPSN	Uncertain significance	-1	RCV002872831;	N	MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994	11	47470402	47470402	NC_000011.9:g.47470402G>A	-
NM_005055.5(RAPSN):c.111G>A (p.Ser37=)	5913	RAPSN	Likely benign	146825957	RCV001396624\|RCV001276399;	N	MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994\|MONDO:MONDO:0018940,MeSH:D020294,MedGen:C0751882,OMIM:PS601462, Orphanet:590	11	47470406	47470406	11:g.47470406C>T	-
NM_005055.5(RAPSN):c.110C>T (p.Ser37Leu)	5913	RAPSN	Uncertain significance	-1	RCV002958459;	N	MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994	11	47470407	47470407	NC_000011.9:g.47470407G>A	-
NM_005055.5(RAPSN):c.108C>T (p.Ser36=)	5913	RAPSN	Likely benign	-1	RCV003011775;	N	MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994	11	47470409	47470409		-
NM_005055.5(RAPSN):c.105G>A (p.Lys35=)	5913	RAPSN	Likely benign	2153311746	RCV002142703;	N	Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994; MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590	11	47470412	47470412	47470412	-
NM_005055.5(RAPSN):c.102G>C (p.Glu34Asp)	5913	RAPSN	Uncertain significance	2076432091	RCV001105616\|RCV001105617;	N	Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994\|MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590	11	47470415	47470415	11:g.47470415C>G	-
NM_005055.5(RAPSN):c.102G>A (p.Glu34=)	5913	RAPSN	Likely benign	2076432091	RCV001279265\|RCV002537839;	N	MONDO:MONDO:0018940,MeSH:D020294,MedGen:C0751882,OMIM:PS601462, Orphanet:590\|Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994; MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590	11	47470415	47470415	11:g.47470415C>T	-
NM_005055.5(RAPSN):c.99G>A (p.Leu33=)	5913	RAPSN	Likely benign	2153311752	RCV001461918;	N	MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994	11	47470418	47470418	47470418	-
NM_005055.5(RAPSN):c.96G>T (p.Val32=)	5913	RAPSN	Likely benign	2076432156	RCV002208545;	N	Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994; MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590	11	47470421	47470421	47470421	-
NM_005055.5(RAPSN):c.90A>G (p.Thr30=)	5913	RAPSN	Likely benign	753896492	RCV001468898;	N	Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994; MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590	11	47470427	47470427	47470427	-
NM_005055.5(RAPSN):c.82G>T (p.Val28Leu)	5913	RAPSN	Uncertain significance	199984356	RCV001054151\|RCV001836092;	N	Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994; MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590\|MONDO:MONDO:0018940,MeSH:D020294,MedGen:C0751882,OMIM:PS601462, Orphanet:590	11	47470435	47470435	11:g.47470435C>A	-
NM_005055.5(RAPSN):c.79C>T (p.Gln27Ter)	5913	RAPSN	Pathogenic	-1	RCV003023050;	N	MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994	11	47470438	47470438	NC_000011.9:g.47470438G>A	-
NM_005055.5(RAPSN):c.78G>A (p.Leu26=)	5913	RAPSN	Likely benign	750811979	RCV001458521;	N	Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994; MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590	11	47470439	47470439	47470439	-
NM_005055.5(RAPSN):c.76T>C (p.Leu26=)	5913	RAPSN	Likely benign	202091676	RCV001424680;	N	MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994	11	47470441	47470441	47470441	-
NM_005055.5(RAPSN):c.73G>C (p.Ala25Pro)	5913	RAPSN	Uncertain significance	1217675127	RCV001879161;	N	Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994; MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590	11	47470444	47470444	47470444	-
NM_005055.5(RAPSN):c.66A>G (p.Thr22=)	5913	RAPSN	Likely benign	-1	RCV003020269;	N	MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994	11	47470451	47470451		-
NM_005055.5(RAPSN):c.61C>T (p.Gln21Ter)	5913	RAPSN	Pathogenic/Likely pathogenic	1595903667	RCV000988562\|RCV001225209\|RCV001836056\|RCV003467548;	N	Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994\|MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:99	11	47470456	47470456	11:g.47470456G>A	-
NM_005055.5(RAPSN):c.59A>T (p.Asn20Ile)	5913	RAPSN	Uncertain significance	747627949	RCV000706416\|RCV001275254\|RCV003141705;	N	MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994\|MONDO:MONDO:0018940,MeSH:D020294,MedGen:C0751882,OMIM:PS601462, Orphanet:590\|MedGen:CN517202	11	47470458	47470458	11:g.47470458T>A	-	C4225367 616326 Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency;
NM_005055.5(RAPSN):c.54G>A (p.Gln18=)	5913	RAPSN	Likely benign	2153311774	RCV002207044;	N	Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994; MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590	11	47470463	47470463	47470463	-
NM_005055.5(RAPSN):c.50A>C (p.Tyr17Ser)	5913	RAPSN	Uncertain significance	-1	RCV003017706;	N	MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994	11	47470467	47470467	NC_000011.9:g.47470467T>G	-
NM_005055.5(RAPSN):c.48G>A (p.Leu16=)	5913	RAPSN	Likely benign	2076432806	RCV001447715;	N	Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994; MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590	11	47470469	47470469	47470469	-
NM_005055.5(RAPSN):c.46dup (p.Leu16fs)	5913	RAPSN	Pathogenic	2153311780	RCV001387008\|RCV002280825\|RCV003463017;	N	MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994\|MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590\|MONDO:MONDO:0100102,MedGen:C476057	11	47470470	47470471	47470470	LOVD 3:RAPSN_000019,OMIM:601592.0004
NM_005055.5(RAPSN):c.43C>A (p.Gln15Lys)	5913	RAPSN	Uncertain significance	1326936118	RCV000806884\|RCV001825599;	N	MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994\|MONDO:MONDO:0018940,MeSH:D020294,MedGen:C0751882,OMIM:PS601462, Orphanet:590	11	47470474	47470474	11:g.47470474G>T	-
NM_005055.5(RAPSN):c.41T>C (p.Leu14Pro)	5913	RAPSN	Pathogenic/Likely pathogenic	104894300	RCV000008513\|RCV001851738\|RCV003460439;	N	MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590\|MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994\|MONDO:MONDO:0100102,MedGen:C476057	11	47470476	47470476	11:g.47470476A>G	ClinGen:CA119252,UniProtKB:Q13702#VAR_021216,OMIM:601592.0002	C4225367 616326 Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency;
NM_005055.5(RAPSN):c.40C>T (p.Leu14Phe)	5913	RAPSN	Uncertain significance	1256816164	RCV001965828;	N	Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994; MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590	11	47470477	47470477	47470477	-
NM_005055.5(RAPSN):c.39G>T (p.Gly13=)	5913	RAPSN	Likely benign	770689515	RCV001276400\|RCV001446256;	N	MONDO:MONDO:0018940,MeSH:D020294,MedGen:C0751882,OMIM:PS601462, Orphanet:590\|MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994	11	47470478	47470478	11:g.47470478C>A	-
NM_005055.5(RAPSN):c.33G>C (p.Glu11Asp)	5913	RAPSN	Uncertain significance	1047615316	RCV001360746\|RCV001826002\|RCV003136024;	N	Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994; MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590\|MONDO:MONDO:0018940,MeSH:D020294,MedGen:C0751882,OMIM:PS601462, Orphanet:590\|MedGen:C3661900	11	47470484	47470484	47470484	-
NM_005055.5(RAPSN):c.30C>T (p.Ile10=)	5913	RAPSN	Likely benign	768838402	RCV001422149\|RCV002070270;	N	MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994\|MedGen:C3661900	11	47470487	47470487	47470487	-
NM_005055.5(RAPSN):c.30C>A (p.Ile10=)	5913	RAPSN	Likely benign	768838402	RCV002086676;	N	Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994; MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590	11	47470487	47470487	47470487	-
NM_005055.5(RAPSN):c.29T>C (p.Ile10Thr)	5913	RAPSN	Uncertain significance	-1	RCV002574583;	N	Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994; MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590	11	47470488	47470488	NC_000011.9:g.47470488A>G	-
NM_005055.5(RAPSN):c.27G>A (p.Gln9=)	5913	RAPSN	Likely benign	1452323802	RCV001480260;	N	Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994; MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590	11	47470490	47470490	47470490	-
NM_005055.5(RAPSN):c.22C>A (p.Gln8Lys)	5913	RAPSN	Uncertain significance	11556408	RCV001036782\|RCV001827218;	N	Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994; MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590\|MONDO:MONDO:0018940,MeSH:D020294,MedGen:C0751882,OMIM:PS601462, Orphanet:590	11	47470495	47470495	11:g.47470495G>T	-
NM_005055.5(RAPSN):c.22C>T (p.Gln8Ter)	5913	RAPSN	Pathogenic	-1	RCV002792011;	N	MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994	11	47470495	47470495	NC_000011.9:g.47470495G>A	-
NM_005055.5(RAPSN):c.11dup (p.Asp4fs)	5913	RAPSN	Pathogenic/Likely pathogenic	1565689206	RCV001224618\|RCV003462765;	N	Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994; MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590\|MONDO:MONDO:0100102,MedGen:C4760576,OMIM:618388	11	47470505	47470506	11:g.47470505_47470506insT	-
NM_005055.5(RAPSN):c.7C>T (p.Gln3Ter)	5913	RAPSN	Pathogenic	2076433607	RCV001909290;	N	MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994	11	47470510	47470510	47470510	-
NM_005055.5(RAPSN):c.3G>T (p.Met1Ile)	5913	RAPSN	Pathogenic	-1	RCV003090311;	N	Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994; MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590	11	47470514	47470514	NC_000011.9:g.47470514C>A	-
NM_005055.5(RAPSN):c.1A>G (p.Met1Val)	5913	RAPSN	Pathogenic	-1	RCV002810112;	N	Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994; MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590	11	47470516	47470516	NC_000011.9:g.47470516T>C	-
NM_005055.5(RAPSN):c.-23G>A	5913	RAPSN	Uncertain significance	370356548	RCV001105618\|RCV001105619\|RCV002489750;	N	Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994\|MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590\|MONDO:MONDO:0100102,MedGen:C4760576,OMIM:618388; MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326	11	47470539	47470539	11:g.47470539C>T	-
NM_005055.5(RAPSN):c.-72C>T	5913	RAPSN	Likely benign	117947983	RCV000349504\|RCV000406186;	N	Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994\|MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590	11	47470588	47470588	NC_000011.9:g.47470588G>A	ClinGen:CA10635053	CN239337 Congenital Myasthenic Syndrome, Recessive;
NM_005055.5(RAPSN):c.-78G>A	5913	RAPSN	Uncertain significance	562440280	RCV000270292\|RCV000304465;	N	Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994\|MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590	11	47470594	47470594	NC_000011.9:g.47470594C>T	ClinGen:CA10631031	CN239337 Congenital Myasthenic Syndrome, Recessive;
NM_005055.5(RAPSN):c.-113C>T	5913	RAPSN	Uncertain significance	547817383	RCV000264248\|RCV000361468;	N	MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590\|Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994	11	47470629	47470629	NC_000011.9:g.47470629G>A	ClinGen:CA10635054	CN239337 Congenital Myasthenic Syndrome, Recessive;
NM_005055.5(RAPSN):c.-118C>A	5913	RAPSN	Uncertain significance	886048389	RCV000321759\|RCV000374113;	N	MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590\|Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994	11	47470634	47470634	NC_000011.9:g.47470634G>T	ClinGen:CA10638751	CN239337 Congenital Myasthenic Syndrome, Recessive;
NM_005055.5(RAPSN):c.-121C>T	5913	RAPSN	Uncertain significance	753969285	RCV000263208\|RCV000317451;	N	Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994\|MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590	11	47470637	47470637	NC_000011.9:g.47470637G>A	ClinGen:CA10631032	CN239337 Congenital Myasthenic Syndrome, Recessive;
NM_005055.4(RAPSN):c.-199C>G	5913	RAPSN	Pathogenic/Likely pathogenic	886037842	RCV000235022\|RCV001215451\|RCV003469194;	N	MONDO:MONDO:0018940,MeSH:D020294,MedGen:C0751882,OMIM:PS601462, Orphanet:590\|Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994; MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590\|MONDO:MONDO:0100102	11	47470715	47470715	NC_000011.9:g.47470715G>C	ClinGen:CA10587996	C0751882 Congenital myasthenic syndrome;
NM_005055.5(RAPSN):c.-210A>G	5913	RAPSN	Pathogenic/Likely pathogenic	786200905	RCV000008517\|RCV000235034\|RCV000664547\|RCV001813966\|RCV001824563\|RCV003460440;	N	MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590\|MONDO:MONDO:0018940,MeSH:D020294,MedGen:C0751882,OMIM:PS601462, Orphanet:590\|MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101	11	47470726	47470726	NC_000011.9:g.47470726T>C	ClinGen:CA212886,OMIM:601592.0006	C0751882 Congenital myasthenic syndrome;

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