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
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:CMS11 |CMS1E, FORMERLY |CMS2C |CMS3C |CMS9 |CMS Ie, FORMERLY |MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY |MYASTHENIC SYNDROME, CONGENITAL, 2C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY |MYASTHENIC SYNDROME, CON
Slim Mappings:Congenital abnormality|Genetic disease (inborn)|Musculoskeletal disease|Nervous system disease
Reference: MedGen: C563829
MeSH: C563829
OMIM: 616326;
MSeqDR LSDB:  
Genes:
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0003577Congenital onset
3 HP:0002804Arthrogryposis multiplex congenitaHP:0040283
4 HP:0001558Decreased fetal movement
5 HP:0003388Easy fatigability
6 HP:0011968Feeding difficulties
7 HP:0003391Gowers sign
8 HP:0000218High palate
9 HP:0000276Long face
10 HP:0001319Neonatal hypotonia
NAMDC:  Floppy baby
11 HP:0000508Ptosis
NAMDC:  Ptosis
12 HP:0002093Respiratory insufficiency
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_005055.5(RAPSN):c.*211G>A5913RAPSNUncertain significancers542424704RCV000267145|RCV000361798; NMONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994|MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590114745931547459315CT11:g.47459315C>TClinGen:CA5976436
NM_005055.5(RAPSN):c.*207C>A5913RAPSNBenignrs73459751RCV000322150|RCV000376821; NMONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994|MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590114745931947459319GT11:g.47459319G>TClinGen:CA5976437
NM_005055.5(RAPSN):c.*80G>C5913RAPSNUncertain significancers886048385RCV000261906|RCV000317107; NMONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590|MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994114745944647459446CG11:g.47459446C>GClinGen:CA10639353
NM_005055.5(RAPSN):c.*57C>T5913RAPSNBenignrs45617144RCV000296062|RCV000371823; NMONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590|MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994114745946947459469GA11:g.47459469G>AClinGen:CA5976449
NC_000011.10:g.(?_47437955)_(47438951_?)del5913RAPSNPathogenic-1RCV000653222; NMONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994114745950647460502nana-C4225367 616326 Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency;
NM_005055.5(RAPSN):c.*16G>A5913RAPSNUncertain significancers886048386RCV000351011|RCV000386916; NMONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994|MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590114745951047459510CT11:g.47459510C>TClinGen:CA10639354
NC_000011.10:g.(?_47437965)_(47438941_?)del5913RAPSNPathogenic-1RCV001033452; NMONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994114745951647460492nana-1-
NM_005055.5(RAPSN):c.1212C>T (p.Arg404=)5913RAPSNUncertain significance-1RCV001103491|RCV001103492; NMONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994|MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590114745955347459553GA11:g.47459553G>A-
NM_005055.5(RAPSN):c.1203C>T (p.Asn401=)5913RAPSNConflicting interpretations of pathogenicityrs757215612RCV000400669|RCV001082882|RCV001275239; NMedGen:CN517202|MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994|MONDO:MONDO:0018940,MedGen:C0751882,OMIM:PS601462, Orphanet:590114745956247459562GA11:g.47459562G>AClinGen:CA10605108CN169374 not specified;
NM_005055.5(RAPSN):c.1190G>A (p.Arg397Gln)5913RAPSNConflicting interpretations of pathogenicityrs139398367RCV000950989|RCV001103493|RCV001103494|RCV001274399; NMONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994; MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590|MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994|MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590|MONDO:MON114745957547459575CT11:g.47459575C>T-
NM_005055.5(RAPSN):c.1189C>T (p.Arg397Trp)5913RAPSNLikely benignrs201796294RCV000533315; NMONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994114745957647459576GA11:g.47459576G>AClinGen:CA5976455C4225367 616326 Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency;
NM_005055.5(RAPSN):c.1183G>A (p.Gly395Arg)5913RAPSNUncertain significance-1RCV001244496; NMONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994114745958247459582CT11:g.47459582C>T-
NM_005055.5(RAPSN):c.1181A>G (p.Asn394Ser)5913RAPSNUncertain significancers370123138RCV000552477; NMONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994114745958447459584TC11:g.47459584T>CClinGen:CA5976460C4225367 616326 Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency;
NM_005055.5(RAPSN):c.1180A>C (p.Asn394His)5913RAPSNUncertain significancers762532220RCV000816665|RCV001275240; NMONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994; MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590|MONDO:MONDO:0018940,MedGen:C0751882,OMIM:PS601462, Orphanet:590114745958547459585TG11:g.47459585T>G-
NM_005055.5(RAPSN):c.1148C>G (p.Ser383Cys)5913RAPSNUncertain significancers1197895855RCV000819394; NMONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994114746030147460301GC11:g.47460301G>C-
NM_005055.5(RAPSN):c.1143T>C (p.Pro381=)5913RAPSNBenignrs7126210RCV000118117|RCV000292191|RCV000347078|RCV001275242; NMedGen:CN169374|MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590|MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994|MONDO:MONDO:0018940,MedGen:C0751882,OMIM:PS601462, Orphanet:590114746030647460306AG11:g.47460306A>GClinGen:CA154872CN239337 Congenital Myasthenic Syndrome, Recessive;
NM_005055.5(RAPSN):c.1127G>A (p.Arg376Gln)5913RAPSNUncertain significancers1241928450RCV000695951; NMONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994114746032247460322CT11:g.47460322C>T-C4225367 616326 Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency;
NM_005055.5(RAPSN):c.1126C>T (p.Arg376Trp)5913RAPSNUncertain significancers145507075RCV000653217; NMONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994114746032347460323GA11:g.47460323G>AClinGen:CA5976493C4225367 616326 Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency;
NM_005055.5(RAPSN):c.1116_1118GAA[1] (p.Lys373del)5913RAPSNPathogenic-1RCV001050927; NMONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994114746032847460330GTTCG11:g.47460328_47460330del-
NM_005055.5(RAPSN):c.1119G>A (p.Lys373=)5913RAPSNLikely benignrs1048200516RCV000544586; NMONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994; MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590114746033047460330CT11:g.47460330C>TClinGen:CA221713992C4225367 616326 Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency;
NM_005055.5(RAPSN):c.1099G>A (p.Gly367Ser)5913RAPSNUncertain significance-1RCV001105409|RCV001105410; NMONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994|MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590114746035047460350CT11:g.47460350C>T-
NM_005055.5(RAPSN):c.1098C>T (p.Cys366=)5913RAPSNLikely benignrs139525851RCV000251086|RCV000876411; NMedGen:CN169374|MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994; MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590114746035147460351GA11:g.47460351G>AClinGen:CA5976503CN169374 not specified;
NM_005055.5(RAPSN):c.1092C>T (p.Gly364=)5913RAPSNUncertain significance-1RCV001046498; NMONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994114746035747460357GA11:g.47460357G>A-
NM_005055.5(RAPSN):c.1081_1082CT[3] (p.Tyr362fs)5913RAPSNPathogenicrs786205885RCV000170473|RCV000478920; NMONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590|MedGen:CN517202114746036447460365TTAG11:g.47460364_47460365insAGClinGen:CA199651,OMIM:601592.0015
NM_005055.5(RAPSN):c.1077G>A (p.Thr359=)5913RAPSNLikely benignrs565321918RCV000899185; NMONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994114746037247460372CT11:g.47460372C>T-
NM_005055.5(RAPSN):c.1069G>C (p.Glu357Gln)5913RAPSNUncertain significancers1595896567RCV000804302; NMONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994114746038047460380CG11:g.47460380C>G-
NM_005055.5(RAPSN):c.1066G>A (p.Val356Met)5913RAPSNUncertain significancers570140663RCV000307953|RCV000404405|RCV000706275|RCV001274400; NMONDO: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:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994|MONDO:MON114746038347460383CT11:g.47460383C>TClinGen:CA5976510
NM_005055.5(RAPSN):c.1065C>A (p.Cys355Ter)5913RAPSNPathogenic-1RCV001219154; NMONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994114746038447460384GT11:g.47460384G>T-
NM_005055.5(RAPSN):c.1029_1045del (p.Glu344fs)5913RAPSNConflicting interpretations of pathogenicityrs765096923RCV000779064|RCV001232917; NMedGen:CN239397|MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994114746040447460420ACGTGCGCCCGCAGTTCCA11:g.47460404_47460420del-
NM_005055.5(RAPSN):c.1041G>A (p.Ala347=)5913RAPSNConflicting interpretations of pathogenicityrs149683345RCV000246362|RCV000344045|RCV000402474|RCV000873776|RCV001084322|RCV001274401; NMedGen:CN169374|MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590|MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994|MedGen:CN517202|MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; MONDO:MONDO:0100101,MedGen:C1276035,OM114746040847460408CT11:g.47460408C>TClinGen:CA5976519
NM_005055.5(RAPSN):c.1036C>T (p.Arg346Trp)5913RAPSNUncertain significancers529117281RCV000653216|RCV001274402; NMONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994|MONDO:MONDO:0018940,MedGen:C0751882,OMIM:PS601462, Orphanet:590114746041347460413GA11:g.47460413G>AClinGen:CA5976522C4225367 616326 Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency;
NM_005055.5(RAPSN):c.1033C>T (p.Leu345=)5913RAPSNLikely benignrs778622975RCV000982749; NMONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994114746041647460416GA11:g.47460416G>A-
NM_005055.5(RAPSN):c.1028G>A (p.Arg343Gln)5913RAPSNUncertain significancers757902272RCV000653214; NMONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994114746042147460421CT11:g.47460421C>TClinGen:CA5976525
NM_005055.5(RAPSN):c.1010G>A (p.Arg337His)5913RAPSNUncertain significance-1RCV001064461; NMONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994114746043947460439CT11:g.47460439C>T-
NM_005055.5(RAPSN):c.1009C>T (p.Arg337Cys)5913RAPSNUncertain significancers549232026RCV000653215; NMONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994114746044047460440GA11:g.47460440G>AClinGen:CA380327816C4225367 616326 Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency;
NM_005055.5(RAPSN):c.997G>T (p.Glu333Ter)5913RAPSNPathogenicrs201947904RCV000822748; NMONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994114746045247460452CA11:g.47460452C>A-
NM_005055.5(RAPSN):c.997G>C (p.Glu333Gln)5913RAPSNUncertain significance-1RCV001054429|RCV001275243; NMONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994; MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590|MONDO:MONDO:0018940,MedGen:C0751882,OMIM:PS601462, Orphanet:590114746045247460452CG11:g.47460452C>G-
NM_005055.5(RAPSN):c.960G>A (p.Gly320=)5913RAPSNBenign/Likely benignrs145357531RCV000500274|RCV000554854; NMedGen:CN169374|MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994; MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590114746271647462716CT11:g.47462716C>TClinGen:CA5976550
NM_005055.5(RAPSN):c.949G>A (p.Glu317Lys)5913RAPSNUncertain significance-1RCV001050364|RCV001274403; NMONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994; MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590|MONDO:MONDO:0018940,MedGen:C0751882,OMIM:PS601462, Orphanet:590114746272747462727CT11:g.47462727C>T-
NM_005055.5(RAPSN):c.948C>T (p.Ala316=)5913RAPSNLikely benignrs374676714RCV000874902|RCV001274404; NMONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994; MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590|MONDO:MONDO:0018940,MedGen:C0751882,OMIM:PS601462, Orphanet:590114746272847462728GA11:g.47462728G>A-
NM_005055.5(RAPSN):c.928G>A (p.Glu310Lys)5913RAPSNUncertain significancers367565995RCV000358965|RCV000396758|RCV001223828; NMONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590|MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994|MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994114746274847462748CT11:g.47462748C>TClinGen:CA5976558
NM_005055.5(RAPSN):c.927C>T (p.Ile309=)5913RAPSNLikely benignrs144813373RCV000899411; NMONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994114746274947462749GA11:g.47462749G>A-
NM_005055.5(RAPSN):c.919G>C (p.Asp307His)5913RAPSNUncertain significancers1565683625RCV000697083; NMONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994114746275747462757CG11:g.47462757C>G-C4225367 616326 Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency;
NM_005055.5(RAPSN):c.912+9G>T5913RAPSNUncertain significance-1RCV001106550|RCV001106551; NMONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994|MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590114746315447463154CA11:g.47463154C>A-
NM_005055.5(RAPSN):c.912+9G>A5913RAPSNUncertain significance-1RCV001106552|RCV001106553|RCV001243852; NMONDO: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:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994114746315447463154CT11:g.47463154C>T-
NM_005055.5(RAPSN):c.912G>A (p.Lys304=)5913RAPSNUncertain significance-1RCV001219113; NMONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994114746316347463163CT11:g.47463163C>T-
NM_005055.5(RAPSN):c.903G>A (p.Ala301=)5913RAPSNConflicting interpretations of pathogenicityrs56040810RCV000304526|RCV001081237|RCV001106554|RCV001106555|RCV001274406; NMedGen:CN517202|MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994|MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590|MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150,Orphan114746317247463172CT11:g.47463172C>TClinGen:CA5976594CN169374 not specified;
NM_005055.5(RAPSN):c.889G>A (p.Val297Met)5913RAPSNUncertain significancers369570812RCV000653219|RCV001274407; NMONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994|MONDO:MONDO:0018940,MedGen:C0751882,OMIM:PS601462, Orphanet:590114746318647463186CT11:g.47463186C>TClinGen:CA5976596C4225367 616326 Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency;
NM_005055.5(RAPSN):c.872G>A (p.Gly291Asp)5913RAPSNUncertain significancers374604570RCV000850590; NMONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994114746320347463203CT11:g.47463203C>T-
NM_005055.5(RAPSN):c.864G>A (p.Ala288=)5913RAPSNLikely benignrs147966227RCV000897425|RCV001278483; NMONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994; MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590|MONDO:MONDO:0018940,MedGen:C0751882,OMIM:PS601462, Orphanet:590114746321147463211CT11:g.47463211C>T-
NM_005055.5(RAPSN):c.863C>T (p.Ala288Val)5913RAPSNUncertain significance-1RCV001239329; NMONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994114746321247463212GA11:g.47463212G>A-
NM_005055.5(RAPSN):c.855G>A (p.Gln285=)5913RAPSNBenignrs45603036RCV000118120|RCV000300801|RCV000355918|RCV001275245; NMedGen:CN169374|MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994|MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590|MONDO:MONDO:0018940,MedGen:C0751882,OMIM:PS601462, Orphanet:590114746322047463220CT11:g.47463220C>TClinGen:CA154878CN239337 Congenital Myasthenic Syndrome, Recessive;
NM_005055.5(RAPSN):c.853C>T (p.Gln285Ter)5913RAPSNPathogenicrs1555142603RCV000542391; NMONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994114746322247463222GA11:g.47463222G>AClinGen:CA380329271C4225367 616326 Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency;
NM_005055.5(RAPSN):c.848T>C (p.Leu283Pro)5913RAPSNPathogenic/Likely pathogenicrs104894293RCV000008518|RCV000178899|RCV001255415; NMONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590|MedGen:CN517202|Human Phenotype Ontology:HP:0000754,Human Phenotype Ontology:HP:0001255,Human Phenotype Ontology:HP:0001263,Human Phenotype Ontology:HP:0001277,Human Phenotype Ontology:HP:0001114746322747463227AG11:g.47463227A>GClinGen:CA119255,UniProtKB:Q13702#VAR_043903,OMIM:601592.0007C4225367 616326 Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency;
NM_005055.5(RAPSN):c.838G>A (p.Gly280Arg)5913RAPSNUncertain significancers1262674788RCV000794222; NMONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994114746323747463237CT11:g.47463237C>T-
NM_005055.5(RAPSN):c.831C>T (p.Thr277=)5913RAPSNLikely benignrs148078235RCV000876096|RCV001274408; NMONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994; MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590|MONDO:MONDO:0018940,MedGen:C0751882,OMIM:PS601462, Orphanet:590114746324447463244GA11:g.47463244G>A-
NM_005055.5(RAPSN):c.822C>A (p.Ser274Arg)5913RAPSNUncertain significancers778371396RCV000815494; NMONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994114746325347463253GT11:g.47463253G>T-
NM_005055.5(RAPSN):c.821G>A (p.Ser274Asn)5913RAPSNConflicting interpretations of pathogenicityrs140996453RCV000261059|RCV000316244|RCV000525112|RCV001274409; NMONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590|MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994|MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994|MONDO:MON114746325447463254CT11:g.47463254C>TClinGen:CA5976611
NM_005055.5(RAPSN):c.817A>T (p.Met273Leu)5913RAPSNUncertain significancers1397711588RCV000700559; NMONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994114746325847463258TA11:g.47463258T>A-C4225367 616326 Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency;
NM_005055.5(RAPSN):c.808G>A (p.Asp270Asn)5913RAPSNUncertain significance-1RCV001243446|RCV001278485; NMONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994|MONDO:MONDO:0018940,MedGen:C0751882,OMIM:PS601462, Orphanet:590114746326747463267CT11:g.47463267C>T-
NM_005055.5(RAPSN):c.807C>A (p.Tyr269Ter)5913RAPSNPathogenicrs104894301RCV000008516; NMONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590114746326847463268GT11:g.47463268G>TClinGen:CA119253,OMIM:601592.0005C4225367 616326 Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency;
NM_005055.5(RAPSN):c.793G>A (p.Ala265Thr)5913RAPSNUncertain significancers200695559RCV000660649; NMONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994114746328247463282CT11:g.47463282C>T-
NM_005055.5(RAPSN):c.790-5T>C5913RAPSNLikely benignrs369823690RCV000252368|RCV000951440; NMedGen:CN169374|MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994; MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590114746329047463290AG11:g.47463290A>GClinGen:CA5976622CN169374 not specified;
NM_005055.5(RAPSN):c.781G>A (p.Asp261Asn)5913RAPSNUncertain significancers762865029RCV000276500|RCV000370825; NMONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590|MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994114746338347463383CT11:g.47463383C>TClinGen:CA5976641
NM_005055.5(RAPSN):c.776G>A (p.Arg259His)5913RAPSNLikely benignrs766051613RCV000553703|RCV001274410; NMONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994|MONDO:MONDO:0018940,MedGen:C0751882,OMIM:PS601462, Orphanet:590114746338847463388CT11:g.47463388C>TClinGen:CA5976642C4225367 616326 Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency;
NM_005055.5(RAPSN):c.775C>G (p.Arg259Gly)5913RAPSNUncertain significancers150207592RCV000791948; NMONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994114746338947463389GC11:g.47463389G>C-
NM_005055.5(RAPSN):c.769C>T (p.Arg257Trp)5913RAPSNUncertain significance-1RCV001246340; NMONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994114746339547463395GA11:g.47463395G>A-
NM_005055.5(RAPSN):c.756C>T (p.Phe252=)5913RAPSNLikely benignrs758794718RCV000653220; NMONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994114746340847463408GA11:g.47463408G>AClinGen:CA5976650C4225367 616326 Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency;
NM_005055.5(RAPSN):c.691-2_732dup5913RAPSNUncertain significance-1RCV001219339; NMONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994114746343147463432GGCAGTGGCCGGTCCCCGTGCTGCAGCGCGATCTTCATAGACTCCT11:g.47463431_47463432insCAGTGGCCGGTCCCCGTGCTGCAGCGCGATCTTCATAGACTCCT-
NM_005055.5(RAPSN):c.731T>C (p.Leu244Pro)5913RAPSNUncertain significance-1RCV001235423; NMONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994114746343347463433AG11:g.47463433A>G-
NM_005055.5(RAPSN):c.725G>A (p.Arg242Gln)5913RAPSNUncertain significancers780963721RCV000693236; NMONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994; MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590114746343947463439CT11:g.47463439C>T-C4225367 616326 Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency;
NM_005055.5(RAPSN):c.717C>T (p.His239=)5913RAPSNLikely benignrs576729861RCV000875325|RCV001274411; NMONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994; MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590|MONDO:MONDO:0018940,MedGen:C0751882,OMIM:PS601462, Orphanet:590114746344747463447GA11:g.47463447G>A-
NM_005055.5(RAPSN):c.705C>T (p.Ile235=)5913RAPSNLikely benignrs562539081RCV000941918; NMONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994114746345947463459GA11:g.47463459G>A-
NM_005055.5(RAPSN):c.691-4G>T5913RAPSNConflicting interpretations of pathogenicityrs886048388RCV000291804|RCV000328166|RCV000980196; NMONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590|MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994|MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994114746347747463477CA11:g.47463477C>AClinGen:CA10638749
NM_005055.5(RAPSN):c.690+10C>T5913RAPSNConflicting interpretations of pathogenicityrs78293924RCV000343403|RCV000392928|RCV000946126|RCV001274412; NMONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590|MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994|MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994|MONDO:MON114746419847464198GA11:g.47464198G>AClinGen:CA5976676
NM_005055.5(RAPSN):c.690+4G>A5913RAPSNUncertain significance-1RCV001044087|RCV001274413; NMONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994; MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590|MONDO:MONDO:0018940,MedGen:C0751882,OMIM:PS601462, Orphanet:590114746420447464204CT11:g.47464204C>T-
NM_005055.5(RAPSN):c.674C>T (p.Ala225Val)5913RAPSNUncertain significancers1565684828RCV000696238; NMONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994114746422447464224GA11:g.47464224G>A-C4225367 616326 Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency;
NM_005055.5(RAPSN):c.670_672dup (p.Ser224dup)5913RAPSNUncertain significancers1555142799RCV000670976; NMONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994114746422547464226CCACT11:g.47464225_47464226insACT-C4225367 616326 Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency;
NM_005055.5(RAPSN):c.669C>T (p.Gly223=)5913RAPSNLikely benignrs1168766907RCV000978228; NMONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994114746422947464229GA11:g.47464229G>A-
NM_005055.5(RAPSN):c.667G>A (p.Gly223Ser)5913RAPSNUncertain significancers138863694RCV000802269; NMONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994114746423147464231CT11:g.47464231C>T-
NM_005055.5(RAPSN):c.662G>A (p.Arg221His)5913RAPSNUncertain significancers1377574572RCV000541515; NMONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994114746423647464236CT11:g.47464236C>TClinGen:CA380331735C4225367 616326 Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency;
NM_005055.5(RAPSN):c.661C>T (p.Arg221Cys)5913RAPSNUncertain significance-1RCV001216911; NMONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994114746423747464237GA11:g.47464237G>A-
NM_005055.5(RAPSN):c.649C>T (p.Arg217Cys)5913RAPSNUncertain significancers766845970RCV000529053; NMONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994114746424947464249GA11:g.47464249G>AClinGen:CA5976687C4225367 616326 Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency;
NM_005055.5(RAPSN):c.640G>A (p.Val214Met)5913RAPSNConflicting interpretations of pathogenicityrs201124957RCV000548221|RCV001103570|RCV001103571; NMONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994|MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994|MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590114746425847464258CT11:g.47464258C>TClinGen:CA5976688C4225367 616326 Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency;
NM_005055.5(RAPSN):c.614G>A (p.Arg205Gln)5913RAPSNBenignrs34625105RCV000243655|RCV000282798|RCV000340125|RCV000535743|RCV001275247; NMedGen:CN169374|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:0100101,MedGen:C1276035,OMIM:208150,Orphan114746428447464284CT11:g.47464284C>TClinGen:CA5976694CN239337 Congenital Myasthenic Syndrome, Recessive;
NM_005055.5(RAPSN):c.568G>T (p.Ala190Ser)5913RAPSNUncertain significancers779881502RCV000793499; NMONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994114746433047464330CA11:g.47464330C>A-
NM_005055.5(RAPSN):c.549_553dup (p.Phe185fs)5913RAPSNPathogenicrs786200904RCV000008514; NMONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590114746434447464345AAAGAAC11:g.47464344_47464345insAGAACOMIM:601592.0003,ClinGen:CA212885
NM_005055.5(RAPSN):c.549G>C (p.Leu183=)5913RAPSNLikely benignrs1595899529RCV000905208; NMONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994114746434947464349CG11:g.47464349C>G-
NC_000011.10:g.(?_47447802)_(47449175_?)del5913RAPSNPathogenic-1RCV001032726; NMONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994114746935447470727nana-1-
NM_005055.5(RAPSN):c.493G>A (p.Val165Met)5913RAPSNPathogenic-1RCV001061762; NMONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994114746940247469402CT11:g.47469402C>T-
NM_005055.5(RAPSN):c.492C>T (p.Arg164=)5913RAPSNConflicting interpretations of pathogenicityrs146237774RCV000297949|RCV000405598|RCV000528123|RCV001274414; NMONDO: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:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994|MONDO:MON114746940347469403GA11:g.47469403G>AClinGen:CA5976732
NM_005055.5(RAPSN):c.490C>T (p.Arg164Cys)5913RAPSNPathogenic/Likely pathogenicrs104894294RCV000008520|RCV000415079; NMONDO: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:114746940547469405GA11:g.47469405G>AClinGen:CA119256,UniProtKB:Q13702#VAR_043901,OMIM:601592.0009C4225367 616326 Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency;
NM_005055.5(RAPSN):c.484G>A (p.Glu162Lys)5913RAPSNPathogenicrs121909255RCV000008522|RCV001231489; NMONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590|MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994114746941147469411CT11:g.47469411C>TClinGen:CA119258,UniProtKB:Q13702#VAR_043900,OMIM:601592.0011C4225367 616326 Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency;
NM_005055.5(RAPSN):c.475G>A (p.Ala159Thr)5913RAPSNUncertain significance-1RCV001228173; NMONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994114746942047469420CT11:g.47469420C>T-
NM_005055.5(RAPSN):c.474C>T (p.Asp158=)5913RAPSNConflicting interpretations of pathogenicityrs56245238RCV000247109|RCV000355174|RCV000404374|RCV000726774|RCV001080568|RCV001275248; NMedGen:CN169374|MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994|MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590|MedGen:CN517202|MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; MONDO:MONDO:0100101,MedGen:C1276035,OM114746942147469421GA11:g.47469421G>AClinGen:CA5976738CN239337 Congenital Myasthenic Syndrome, Recessive;
NM_005055.5(RAPSN):c.468_470TGA[1] (p.Asp158del)5913RAPSNUncertain significancers1595902555RCV000820506; NMONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994114746942247469424GTCAG11:g.47469422_47469424del-
NM_005055.5(RAPSN):c.457G>A (p.Ala153Thr)5913RAPSNUncertain significancers142635726RCV000850591|RCV001105500|RCV001105501; NMONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994|MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994|MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590114746943847469438CT11:g.47469438C>T-
NM_005055.5(RAPSN):c.456_457delinsCT (p.Ala153Ser)5913RAPSNLikely benignrs1595902592RCV000873260; NMONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994114746943847469439CAAGNC_000011.9:g.47469438_47469439delinsAG-
NM_005055.5(RAPSN):c.457G>T (p.Ala153Ser)5913RAPSNConflicting interpretations of pathogenicity-1RCV001105498|RCV001105499; NMONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590|MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994114746943847469438CA11:g.47469438C>A-
NM_005055.5(RAPSN):c.456_457inv (p.Ala153Thr)5913RAPSNUncertain significance-1RCV001231749; NMONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994; MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590114746943847469439CATGNC_000011.9:g.47469438_47469439inv-
NM_005055.5(RAPSN):c.456T>C (p.Tyr152=)5913RAPSNBenignrs7111873RCV000118119|RCV000315533|RCV000367686|RCV001275249; NMedGen:CN169374|MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994|MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590|MONDO:MONDO:0018940,MedGen:C0751882,OMIM:PS601462, Orphanet:590114746943947469439AG11:g.47469439A>GClinGen:CA154876CN239337 Congenital Myasthenic Syndrome, Recessive;
NM_005055.5(RAPSN):c.451C>T (p.Arg151Cys)5913RAPSNUncertain significance-1RCV001248742; NMONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994114746944447469444GA11:g.47469444G>A-
NM_005055.5(RAPSN):c.445G>A (p.Ala149Thr)5913RAPSNUncertain significancers1198813718RCV000653218; NMONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994114746945047469450CT11:g.47469450C>TClinGen:CA380333929
NM_005055.5(RAPSN):c.429G>C (p.Leu143=)5913RAPSNUncertain significancers762052702RCV000275433|RCV000328229; NMONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994|MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590114746946647469466CG11:g.47469466C>GClinGen:CA10631027
NM_005055.5(RAPSN):c.429G>A (p.Leu143=)5913RAPSNLikely benignrs762052702RCV000908341|RCV001274415; NMONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994; MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590|MONDO:MONDO:0018940,MedGen:C0751882,OMIM:PS601462, Orphanet:590114746946647469466CT11:g.47469466C>T-
NM_005055.5(RAPSN):c.425C>A (p.Ala142Asp)5913RAPSNUncertain significance-1RCV001066055; NMONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994114746947047469470GT11:g.47469470G>T-
NM_005055.5(RAPSN):c.412G>A (p.Val138Ile)5913RAPSNUncertain significancers35810986RCV000269370|RCV000366609|RCV000810152|RCV001276398; NMONDO: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:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994|MONDO:MON114746948347469483CT11:g.47469483C>TClinGen:CA5976748
NM_005055.5(RAPSN):c.370C>T (p.Gln124Ter)5913RAPSNPathogenicrs1479498379RCV000534807; NMONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994114746952547469525GA11:g.47469525G>AClinGen:CA380334223
NM_005055.5(RAPSN):c.364G>A (p.Gly122Arg)5913RAPSNUncertain significance-1RCV001106664|RCV001106665|RCV001279260; NMONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994|MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590|MONDO:MONDO:0018940,MedGen:C0751882,OMIM:PS601462, Orphanet:590114746953147469531CT11:g.47469531C>T-
NM_005055.5(RAPSN):c.363C>T (p.Leu121=)5913RAPSNBenign/Likely benignrs190548363RCV000558762|RCV001106666|RCV001108814; NMONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994|MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994|MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590114746953247469532GA11:g.47469532G>AClinGen:CA5976757C4225367 616326 Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency;
NM_005055.5(RAPSN):c.360G>T (p.Gln120His)5913RAPSNUncertain significancers780338213RCV000326705|RCV000378983|RCV000803868; NMONDO: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:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994114746953547469535CA11:g.47469535C>AClinGen:CA5976758
NM_005055.5(RAPSN):c.358C>T (p.Gln120Ter)5913RAPSNPathogenic-1RCV001209146; NMONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994114746953747469537GA11:g.47469537G>A-
NM_005055.5(RAPSN):c.357C>T (p.Ala119=)5913RAPSNLikely benignrs1595902752RCV000982270; NMONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994114746953847469538GA11:g.47469538G>A-
NM_005055.5(RAPSN):c.336G>T (p.Leu112=)5913RAPSNLikely benignrs747080013RCV000913674; NMONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994114746955947469559CA11:g.47469559C>A-
NM_005055.5(RAPSN):c.265C>G (p.Leu89Val)5913RAPSNUncertain significance-1RCV001243891; NMONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994114746963047469630GC11:g.47469630G>C-
NM_005055.5(RAPSN):c.264C>A (p.Asn88Lys)5913RAPSNConflicting interpretations of pathogenicityrs104894299RCV000008512|RCV000170316|RCV000224062|RCV000235028|RCV000286918|RCV000414829|RCV000477955; NMONDO:MONDO:0012157,MedGen:C1837091,OMIM:608931, Orphanet:590|MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590|MedGen:CN517202|MONDO:MONDO:0018940,MedGen:C0751882,OMIM:PS601462, Orphanet:590|MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150,Orph114746963147469631GT11:g.47469631G>TClinGen:CA199511,UniProtKB:Q13702#VAR_021217,OMIM:601592.0001
NM_005055.5(RAPSN):c.246C>T (p.Leu82=)5913RAPSNLikely benignrs780420252RCV000895353; NMONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994114746964947469649GA11:g.47469649G>A-
NM_005055.5(RAPSN):c.241T>C (p.Phe81Leu)5913RAPSNBenignrs57878668RCV000224573|RCV000249697|RCV000281223|RCV000378082|RCV001082714; NMedGen:CN517202|MedGen:CN169374|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:0100101,MedGen:C1276035,OM114746965447469654AG11:g.47469654A>GUniProtKB:Q13702#VAR_062142,ClinGen:CA5976776CN239337 Congenital Myasthenic Syndrome, Recessive;
NM_005055.5(RAPSN):c.232G>A (p.Asp78Asn)5913RAPSNUncertain significancers1198989939RCV000687682; NMONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994; MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590114746966347469663CT11:g.47469663C>T-
NM_005055.5(RAPSN):c.221G>A (p.Arg74Gln)5913RAPSNUncertain significancers568433059RCV000807513; NMONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994114746967447469674CT11:g.47469674C>T-
NM_005055.5(RAPSN):c.220C>T (p.Arg74Trp)5913RAPSNUncertain significancers778157857RCV000793761; NMONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994114746967547469675GA11:g.47469675G>A-
NM_005055.5(RAPSN):c.216G>A (p.Thr72=)5913RAPSNLikely benignrs141877523RCV000517255|RCV000653221; NMedGen:CN517202|MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994114746967947469679CT11:g.47469679C>TClinGen:CA5976781C4225367 616326 Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency;
NM_005055.5(RAPSN):c.215C>T (p.Thr72Met)5913RAPSNUncertain significancers770633491RCV000802065|RCV001275250; NMONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994|MONDO:MONDO:0018940,MedGen:C0751882,OMIM:PS601462, Orphanet:590114746968047469680GA11:g.47469680G>A-
NM_005055.5(RAPSN):c.205C>G (p.Gln69Glu)5913RAPSNUncertain significancers1565688293RCV000703914; NMONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994; MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590114746969047469690GC11:g.47469690G>C-
NM_005055.5(RAPSN):c.202G>A (p.Val68Ile)5913RAPSNUncertain significance-1RCV001108815|RCV001108816|RCV001279262; NMONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590|MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994|MONDO:MONDO:0018940,MedGen:C0751882,OMIM:PS601462, Orphanet:590114746969347469693CT11:g.47469693C>T-
NM_005055.5(RAPSN):c.196G>A (p.Ala66Thr)5913RAPSNUncertain significancers145197671RCV000687777; NMONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994; MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590114746969947469699CT11:g.47469699C>T-
NM_005055.5(RAPSN):c.193-14G>A5913RAPSNBenign/Likely benignrs114738594RCV000614382|RCV001103664|RCV001103665; NMedGen:CN169374|MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590|MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994114746971647469716CT11:g.47469716C>TClinGen:CA5976793CN169374 not specified;
NM_005055.5(RAPSN):c.193-15C>A5913RAPSNPathogenicrs45547231RCV000008519; NMONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590114746971747469717GT11:g.47469717G>TClinGen:CA212887,OMIM:601592.0008
NM_005055.5(RAPSN):c.193-15C>T5913RAPSNBenignrs45547231RCV000246555|RCV000338570|RCV000371752|RCV001275251; NMedGen:CN169374|MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590|MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994|MONDO:MONDO:0018940,MedGen:C0751882,OMIM:PS601462, Orphanet:590114746971747469717GA11:g.47469717G>AClinGen:CA5976794
NM_005055.5(RAPSN):c.192+12C>T5913RAPSNUncertain significancers774654232RCV000279556|RCV000350937; NMONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590|MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994114747031347470313GA11:g.47470313G>AClinGen:CA5976812
NM_005055.5(RAPSN):c.175T>C (p.Tyr59His)5913RAPSNUncertain significancers1555143594RCV000557904; NMONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994114747034247470342AG11:g.47470342A>GClinGen:CA380335761C4225367 616326 Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency;
NM_005055.5(RAPSN):c.172C>T (p.Arg58Cys)5913RAPSNBenignrs34312154RCV000118118|RCV000311015|RCV000390783|RCV001275252; NMedGen:CN169374|MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994|MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590|MONDO:MONDO:0018940,MedGen:C0751882,OMIM:PS601462, Orphanet:590114747034547470345GA11:g.47470345G>AClinGen:CA154874CN239337 Congenital Myasthenic Syndrome, Recessive;
NM_005055.5(RAPSN):c.162G>A (p.Ser54=)5913RAPSNConflicting interpretations of pathogenicityrs72905825RCV000246056|RCV000545779|RCV001105612|RCV001105613; NMedGen:CN169374|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:0100101,MedGen:C1276035,OMIM:208150,Orphan114747035547470355CT11:g.47470355C>TClinGen:CA5976819C4225367 616326 Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency;
NM_005055.5(RAPSN):c.161C>T (p.Ser54Leu)5913RAPSNUncertain significancers750772292RCV000792822; NMONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994114747035647470356GA11:g.47470356G>A-
NM_005055.5(RAPSN):c.140G>A (p.Gly47Asp)5913RAPSNUncertain significance-1RCV001105614|RCV001105615|RCV001279263; NMONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590|MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994|MONDO:MONDO:0018940,MedGen:C0751882,OMIM:PS601462, Orphanet:590114747037747470377CT11:g.47470377C>T-
NM_005055.5(RAPSN):c.133G>A (p.Val45Met)5913RAPSNLikely pathogenicrs121909254RCV000008521|RCV000704275|RCV000992743|RCV001275253; NMONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590|MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994; MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590|MedGen:CN517202|MONDO:MONDO:0018940,MedGen:C0751882,OMIM:PS601462,Orph114747038447470384CT11:g.47470384C>TClinGen:CA119257,UniProtKB:Q13702#VAR_043898,OMIM:601592.0010C4225367 616326 Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency;
NM_005055.5(RAPSN):c.102G>C (p.Glu34Asp)5913RAPSNUncertain significance-1RCV001105616|RCV001105617; NMONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994|MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590114747041547470415CG11:g.47470415C>G-
NM_005055.5(RAPSN):c.82G>T (p.Val28Leu)5913RAPSNUncertain significance-1RCV001054151; NMONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994114747043547470435CA11:g.47470435C>A-
NM_005055.5(RAPSN):c.61C>T (p.Gln21Ter)5913RAPSNPathogenicrs1595903667RCV000988562|RCV001225209; NMONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994|MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994114747045647470456GA11:g.47470456G>A-
NM_005055.5(RAPSN):c.59A>T (p.Asn20Ile)5913RAPSNUncertain significancers747627949RCV000706416|RCV001275254; NMONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994|MONDO:MONDO:0018940,MedGen:C0751882,OMIM:PS601462, Orphanet:590114747045847470458TA11:g.47470458T>A-C4225367 616326 Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency;
NM_005055.5(RAPSN):c.43C>A (p.Gln15Lys)5913RAPSNUncertain significancers1326936118RCV000806884; NMONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994114747047447470474GT11:g.47470474G>T-
NM_005055.5(RAPSN):c.41T>C (p.Leu14Pro)5913RAPSNPathogenicrs104894300RCV000008513; NMONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590114747047647470476AG11:g.47470476A>GClinGen:CA119252,UniProtKB:Q13702#VAR_021216,OMIM:601592.0002C4225367 616326 Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency;
NM_005055.5(RAPSN):c.22C>A (p.Gln8Lys)5913RAPSNUncertain significance-1RCV001036782; NMONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994114747049547470495GT11:g.47470495G>T-
NM_005055.5(RAPSN):c.11dup (p.Asp4fs)5913RAPSNPathogenic-1RCV001224618; NMONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994; MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590114747050547470506GGT11:g.47470505_47470506insT-
NM_005055.5(RAPSN):c.-23G>A5913RAPSNUncertain significance-1RCV001105618|RCV001105619; NMONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994|MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590114747053947470539CT11:g.47470539C>T-
NM_005055.5(RAPSN):c.-72C>T5913RAPSNLikely benignrs117947983RCV000349504|RCV000406186; NMONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994|MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590114747058847470588GA11:g.47470588G>AClinGen:CA10635053
NM_005055.5(RAPSN):c.-78G>A5913RAPSNUncertain significancers562440280RCV000270292|RCV000304465; NMONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994|MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590114747059447470594CT11:g.47470594C>TClinGen:CA10631031
NM_005055.5(RAPSN):c.-113C>T5913RAPSNUncertain significancers547817383RCV000264248|RCV000361468; NMONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590|MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994114747062947470629GA11:g.47470629G>AClinGen:CA10635054
NM_005055.5(RAPSN):c.-118C>A5913RAPSNUncertain significancers886048389RCV000321759|RCV000374113; NMONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590|MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994114747063447470634GT11:g.47470634G>TClinGen:CA10638751
NM_005055.5(RAPSN):c.-121C>T5913RAPSNUncertain significancers753969285RCV000263208|RCV000317451; NMONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994|MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590114747063747470637GA11:g.47470637G>AClinGen:CA10631032
NM_005055.4(RAPSN):c.-199C>G5913RAPSNLikely pathogenicrs886037842RCV000235022|RCV001215451; NMONDO:MONDO:0018940,MedGen:C0751882,OMIM:PS601462, Orphanet:590|MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590; MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994114747071547470715GC11:g.47470715G>CClinGen:CA10587996
NG_008312.1(RAPSN):g.5005A>G5913RAPSNPathogenicrs786200905RCV000008517|RCV000235034|RCV000664547; NMONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590|MONDO:MONDO:0018940,MedGen:C0751882,OMIM:PS601462, Orphanet:590|MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150, Orphanet:994; MONDO:MONDO:0014588,MedGen:C4225367,OMIM:616326, Orphanet:590114747072647470726TC11:g.47470726T>CClinGen:CA212886,OMIM:601592.0006
MSeqDR Portal