Rapsn Variant Search Result - Rat Genome Database

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689 records found for search term Rapsn

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
8560269	CV23088	insertion	RAPSN, 1-BP INS, 46C	Congenital myasthenic syndrome 11 [RCV000008515]	pathogenic				Human		name
8560277	CV23096	deletion	RAPSN, 2-BP DEL, 1177AA	Congenital myasthenic syndrome 11 [RCV000767370]\|Fetal akinesia deformation sequence 2 [RCV000008523]	pathogenic				Human		name
11600022	CV314310	single nucleotide variant	NM_005055.5(RAPSN):c.-78G>A	Congenital myasthenic syndrome 11 [RCV000304465]\|Fetal akinesia deformation sequence 1 [RCV000270292]	uncertain significance	11	47449042	47449042	Human	3	name
11607981	CV320894	single nucleotide variant	NM_005055.5(RAPSN):c.-72C>T	Congenital myasthenic syndrome 11 [RCV000406186]\|Fetal akinesia deformation sequence 1 [RCV000349504]\|not provided [RCV004705225]	likely benign\|uncertain significance	11	47449036	47449036	Human	3	name
11616602	CV326952	single nucleotide variant	NM_005055.5(RAPSN):c.*57C>T	Congenital myasthenic syndrome 11 [RCV000296062]\|Fetal akinesia deformation sequence 1 [RCV000371823]\|Fetal akinesia deformation sequence 2 [RCV001537995]\|not provided [RCV001618534]	benign\|likely benign	11	47437918	47437918	Human	4	name
11644783	CV327992	single nucleotide variant	NM_005055.5(RAPSN):c.*80G>C	Congenital myasthenic syndrome 11 [RCV000261906]\|Fetal akinesia deformation sequence 1 [RCV000317107]	uncertain significance	11	47437895	47437895	Human	3	name
11658664	CV327993	single nucleotide variant	NM_005055.5(RAPSN):c.*16G>A	Congenital myasthenic syndrome 11 [RCV000386916]\|Fetal akinesia deformation sequence 1 [RCV000351011]	uncertain significance	11	47437959	47437959	Human	3	name
28904521	CV868112	single nucleotide variant	NM_005055.5(RAPSN):c.-23G>A	Congenital myasthenic syndrome 11 [RCV001105619]\|Congenital myasthenic syndrome 11 [RCV002489750]\|Fetal akinesia deformation sequence 1 [RCV001105618]	uncertain significance	11	47448987	47448987	Human	3	name
8560271	CV23090	single nucleotide variant	NM_005055.5(RAPSN):c.-210A>G	Abnormality of the musculature [RCV001813966]\|Congenital myasthenic syndrome 11 [RCV000008517]\|Congenital myasthenic syndrome 11 [RCV001824563]\|Congenital myasthenic syndrome [RCV000235034]\|Fetal akinesia deformation sequence 1 [RCV000664547]\|Fetal akinesia deformation sequence 2 [RCV003460440]	pathogenic\|likely pathogenic\|not provided	11	47449174	47449174	Human	6	name
11542416	CV259249	single nucleotide variant	NM_005055.5(RAPSN):c.-199C>G	Congenital myasthenic syndrome [RCV000235022]\|Fetal akinesia deformation sequence 1 [RCV001215451]\|Fetal akinesia deformation sequence 2 [RCV003469194]	pathogenic\|likely pathogenic\|not provided	11	47449163	47449163	Human	4	name
11646413	CV314291	single nucleotide variant	NM_005055.4(RAPSN):c.*216A>G	Congenital Myasthenic Syndrome, Recessive [RCV000306844]\|Fetal akinesia deformation sequence 1 [RCV000270480]	uncertain significance	11	47437759	47437759	Human	3	name
11599158	CV314311	single nucleotide variant	NM_005055.5(RAPSN):c.-121C>T	Congenital myasthenic syndrome 11 [RCV000317451]\|Fetal akinesia deformation sequence 1 [RCV000263208]	uncertain significance	11	47449085	47449085	Human	3	name
11599244	CV320895	single nucleotide variant	NM_005055.5(RAPSN):c.-113C>T	Congenital myasthenic syndrome 11 [RCV000264248]\|Fetal akinesia deformation sequence 1 [RCV000361468]	uncertain significance	11	47449077	47449077	Human	3	name
11658469	CV320896	single nucleotide variant	NM_005055.4(RAPSN):c.-202C>T	Congenital Myasthenic Syndrome, Recessive [RCV000387238]\|Fetal akinesia deformation sequence 1 [RCV000348862]	uncertain significance	11	47449166	47449166	Human	3	name
11654962	CV326969	single nucleotide variant	NM_005055.5(RAPSN):c.-118C>A	Congenital myasthenic syndrome 11 [RCV000321759]\|Fetal akinesia deformation sequence 1 [RCV000374113]	uncertain significance	11	47449082	47449082	Human	3	name
11613317	CV327989	single nucleotide variant	NM_005055.5(RAPSN):c.*211G>A	Congenital myasthenic syndrome 11 [RCV000361798]\|Fetal akinesia deformation sequence 1 [RCV000267145]	uncertain significance	11	47437764	47437764	Human	3	name
11619176	CV327990	single nucleotide variant	NM_005055.5(RAPSN):c.*207C>A	Congenital myasthenic syndrome 11 [RCV000376821]\|Fetal akinesia deformation sequence 1 [RCV000322150]\|not provided [RCV001580481]	benign\|likely benign	11	47437768	47437768	Human	3	name
11616631	CV328020	single nucleotide variant	NM_005055.4(RAPSN):c.-190A>G	Congenital Myasthenic Syndrome, Recessive [RCV000388269]\|Fetal akinesia deformation sequence 1 [RCV000296263]	uncertain significance	11	47449154	47449154	Human	3	name
14738777	CV666065	single nucleotide variant	NM_005055.4(RAPSN):c.-346T>G	not provided [RCV000839561]	benign	11	47449310	47449310	Human		name
127255202	CV1056022	single nucleotide variant	NM_005055.5(RAPSN):c.531+1G>T	Congenital myasthenic syndrome 11 [RCV001563594]\|Congenital myasthenic syndrome 11 [RCV005050365]\|Congenital myasthenic syndrome [RCV001826152]\|Fetal akinesia deformation sequence 1 [RCV001379323]\|Fetal akinesia deformation sequence 2 [RCV003462961]	pathogenic\|likely pathogenic	11	47447811	47447811	Human	5	name
127284189	CV1099995	single nucleotide variant	NM_005055.5(RAPSN):c.967-7G>C	Fetal akinesia deformation sequence 1 [RCV001449067]	likely benign	11	47438938	47438938	Human	2	name
127274725	CV1099997	single nucleotide variant	NM_005055.5(RAPSN):c.790-6C>T	Fetal akinesia deformation sequence 1 [RCV001432050]	likely benign	11	47441739	47441739	Human	2	name
127254981	CV1099999	single nucleotide variant	NM_005055.5(RAPSN):c.532-4G>A	Fetal akinesia deformation sequence 1 [RCV001437378]	likely benign	11	47442818	47442818	Human	2	name
127334214	CV1142347	single nucleotide variant	NM_005055.5(RAPSN):c.192+8T>C	Fetal akinesia deformation sequence 1 [RCV001490702]	likely benign	11	47448765	47448765	Human	2	name
151762114	CV1393457	single nucleotide variant	NM_005055.5(RAPSN):c.967-5C>T	Fetal akinesia deformation sequence 1 [RCV001949270]	likely benign	11	47438936	47438936	Human	2	name
151886690	CV1455186	single nucleotide variant	NM_005055.5(RAPSN):c.912+6G>A	Fetal akinesia deformation sequence 1 [RCV002038026]	uncertain significance	11	47441605	47441605	Human	2	name
151712823	CV1479625	single nucleotide variant	NM_005055.5(RAPSN):c.691-7C>A	Fetal akinesia deformation sequence 1 [RCV001889728]	likely benign\|uncertain significance	11	47441928	47441928	Human	2	name
152078440	CV1564853	single nucleotide variant	NM_005055.5(RAPSN):c.192+7G>T	Fetal akinesia deformation sequence 1 [RCV002192724]	likely benign	11	47448766	47448766	Human	2	name
152105613	CV1572570	single nucleotide variant	NM_005055.5(RAPSN):c.531+8T>G	Fetal akinesia deformation sequence 1 [RCV002152358]	likely benign	11	47447804	47447804	Human	2	name
152175101	CV1601870	single nucleotide variant	NM_005055.5(RAPSN):c.913-8C>A	Fetal akinesia deformation sequence 1 [RCV002163372]	likely benign	11	47441220	47441220	Human	2	name
152030764	CV1632308	duplication	NM_005055.5(RAPSN):c.192+9dup	Fetal akinesia deformation sequence 1 [RCV002124412]	likely benign	11	47448763	47448764	Human	2	name
152110195	CV1665309	single nucleotide variant	NM_005055.5(RAPSN):c.967-7G>T	Fetal akinesia deformation sequence 1 [RCV002080140]	likely benign	11	47438938	47438938	Human	2	name
156170708	CV1874177	single nucleotide variant	NM_005055.5(RAPSN):c.192+5G>T	Fetal akinesia deformation sequence 1 [RCV003083222]	uncertain significance	11	47448768	47448768	Human	2	name
156417964	CV1916930	single nucleotide variant	NM_005055.5(RAPSN):c.193-8G>T	Fetal akinesia deformation sequence 1 [RCV002611135]	likely benign	11	47448158	47448158	Human	2	name
156054734	CV1974517	single nucleotide variant	NM_005055.5(RAPSN):c.532-8C>T	Fetal akinesia deformation sequence 1 [RCV002590774]	likely benign	11	47442822	47442822	Human	2	name
156196700	CV2083146	deletion	NM_005055.5(RAPSN):c.913-7del	Fetal akinesia deformation sequence 1 [RCV002852319]	likely benign	11	47441219	47441219	Human	2	name
156217909	CV2084560	single nucleotide variant	NM_005055.5(RAPSN):c.790-9G>C	Fetal akinesia deformation sequence 1 [RCV002853094]	likely benign	11	47441742	47441742	Human	2	name
155946466	CV2107889	single nucleotide variant	NM_005055.5(RAPSN):c.192+7G>A	Fetal akinesia deformation sequence 1 [RCV002904794]	likely benign	11	47448766	47448766	Human	2	name
156040010	CV2121434	deletion	NM_005055.5(RAPSN):c.691-7del	Fetal akinesia deformation sequence 1 [RCV002923877]	likely benign	11	47441928	47441928	Human	2	name
155905399	CV2148034	single nucleotide variant	NM_005055.5(RAPSN):c.966+7C>T	Fetal akinesia deformation sequence 1 [RCV003011887]	likely benign	11	47441152	47441152	Human	2	name
156354456	CV2154115	single nucleotide variant	NM_005055.5(RAPSN):c.789+8C>G	Fetal akinesia deformation sequence 1 [RCV003031125]	likely benign	11	47441815	47441815	Human	2	name
156371526	CV2174594	single nucleotide variant	NM_005055.5(RAPSN):c.193-4G>A	Fetal akinesia deformation sequence 1 [RCV003049738]	likely benign	11	47448154	47448154	Human	2	name
156008574	CV2175732	single nucleotide variant	NM_005055.5(RAPSN):c.531+7C>G	Fetal akinesia deformation sequence 1 [RCV003035114]	likely benign	11	47447805	47447805	Human	2	name
11550915	CV254193	single nucleotide variant	NM_005055.5(RAPSN):c.790-5T>C	Fetal akinesia deformation sequence 1 [RCV000951440]\|not specified [RCV000252368]	likely benign	11	47441738	47441738	Human	2	name
329954357	CV2671327	single nucleotide variant	NM_005055.5(RAPSN):c.912+1G>A	Fetal akinesia deformation sequence 2 [RCV003234959]	pathogenic	11	47441610	47441610	Human	1	name
401943877	CV2833250	single nucleotide variant	NM_005055.5(RAPSN):c.967-2A>G	Fetal akinesia deformation sequence 2 [RCV003463451]	likely pathogenic	11	47438933	47438933	Human	1	name
401948103	CV2833251	single nucleotide variant	NM_005055.5(RAPSN):c.913-1G>C	Fetal akinesia deformation sequence 1 [RCV003779090]\|Fetal akinesia deformation sequence 2 [RCV003471789]	likely pathogenic	11	47441213	47441213	Human	3	name
401943887	CV2833256	single nucleotide variant	NM_005055.5(RAPSN):c.690+1G>A	Fetal akinesia deformation sequence 2 [RCV003463455]	pathogenic	11	47442655	47442655	Human	1	name
401943890	CV2833258	single nucleotide variant	NM_005055.5(RAPSN):c.192+2T>G	Fetal akinesia deformation sequence 1 [RCV003779091]\|Fetal akinesia deformation sequence 2 [RCV003463456]\|not provided [RCV004593294]	pathogenic	11	47448771	47448771	Human	3	name
404990745	CV3084223	single nucleotide variant	NM_005055.5(RAPSN):c.967-9G>C	Fetal akinesia deformation sequence 1 [RCV003782416]	likely benign	11	47438940	47438940	Human	2	name
405050273	CV3084584	single nucleotide variant	NM_005055.5(RAPSN):c.967-7G>A	Fetal akinesia deformation sequence 1 [RCV003797991]	likely benign	11	47438938	47438938	Human	2	name
402509188	CV3088894	single nucleotide variant	NM_005055.5(RAPSN):c.691-1G>A	Fetal akinesia deformation sequence 1 [RCV003780098]	likely pathogenic	11	47441922	47441922	Human	2	name
402518480	CV3091723	single nucleotide variant	NM_005055.5(RAPSN):c.912+9G>C	Fetal akinesia deformation sequence 1 [RCV003790169]	likely benign	11	47441602	47441602	Human	2	name
402496738	CV3092525	single nucleotide variant	NM_005055.5(RAPSN):c.967-5C>A	Fetal akinesia deformation sequence 1 [RCV003788145]	likely benign	11	47438936	47438936	Human	2	name
405046488	CV3097331	single nucleotide variant	NM_005055.5(RAPSN):c.913-4C>T	Fetal akinesia deformation sequence 1 [RCV003807911]	likely benign	11	47441216	47441216	Human	2	name
404979283	CV3099388	single nucleotide variant	NM_005055.5(RAPSN):c.531+1G>A	Fetal akinesia deformation sequence 1 [RCV003791216]	pathogenic	11	47447811	47447811	Human	2	name
402523542	CV3102552	single nucleotide variant	NM_005055.5(RAPSN):c.691-4G>A	Fetal akinesia deformation sequence 1 [RCV003790646]\|RAPSN-related disorder [RCV004733647]	likely benign	11	47441925	47441925	Human	2	name , trait , alternate_id
405167849	CV3104070	single nucleotide variant	NM_005055.5(RAPSN):c.967-6C>A	Fetal akinesia deformation sequence 1 [RCV003802747]	likely benign	11	47438937	47438937	Human	2	name
405035291	CV3108581	single nucleotide variant	NM_005055.5(RAPSN):c.967-4C>G	Fetal akinesia deformation sequence 1 [RCV003807039]	likely benign	11	47438935	47438935	Human	2	name
11650259	CV326966	single nucleotide variant	NM_005055.5(RAPSN):c.691-4G>T	Congenital myasthenic syndrome 11 [RCV000291804]\|Fetal akinesia deformation sequence 1 [RCV000328166]\|Fetal akinesia deformation sequence 1 [RCV000980196]	likely benign\|uncertain significance	11	47441925	47441925	Human	3	name
407574198	CV3498571	single nucleotide variant	NM_005055.5(RAPSN):c.789+4A>T	not specified [RCV004703047]	uncertain significance	11	47441819	47441819	Human		name
597725259	CV3729970	single nucleotide variant	NM_005055.5(RAPSN):c.691-2A>G	Congenital myasthenic syndrome 11 [RCV005050226]	likely pathogenic	11	47441923	47441923	Human	1	name
15142837	CV760070	single nucleotide variant	NM_005055.5(RAPSN):c.912+8C>T	Congenital myasthenic syndrome [RCV001274405]\|Fetal akinesia deformation sequence 1 [RCV001452490]	likely benign\|uncertain significance	11	47441603	47441603	Human	3	name
15112182	CV787744	single nucleotide variant	NM_005055.5(RAPSN):c.532-5T>C	Fetal akinesia deformation sequence 1 [RCV001419884]	likely benign	11	47442819	47442819	Human	2	name
15130569	CV787935	single nucleotide variant	NM_005055.5(RAPSN):c.966+7C>G	Fetal akinesia deformation sequence 1 [RCV001460521]	likely benign	11	47441152	47441152	Human	2	name
21404248	CV801691	single nucleotide variant	NM_005055.5(RAPSN):c.193-2A>C	Congenital myasthenic syndrome 11 [RCV002290990]	pathogenic\|likely pathogenic	11	47448152	47448152	Human	1	name
26886252	CV851439	single nucleotide variant	NM_005055.5(RAPSN):c.690+4G>A	Congenital myasthenic syndrome [RCV001274413]\|Fetal akinesia deformation sequence 1 [RCV001044087]	uncertain significance	11	47442652	47442652	Human	3	name
28906267	CV868659	single nucleotide variant	NM_005055.5(RAPSN):c.912+9G>T	Congenital myasthenic syndrome 11 [RCV001106551]\|Fetal akinesia deformation sequence 1 [RCV001106550]\|Fetal akinesia deformation sequence 1 [RCV003769096]	likely benign\|uncertain significance	11	47441602	47441602	Human	3	name
28906269	CV868660	single nucleotide variant	NM_005055.5(RAPSN):c.912+9G>A	Congenital myasthenic syndrome 11 [RCV001106553]\|Congenital myasthenic syndrome [RCV001833706]\|Fetal akinesia deformation sequence 1 [RCV001106552]\|Fetal akinesia deformation sequence 1 [RCV001243852]\|RAPSN-related disorder [RCV004538329]	likely benign\|uncertain significance	11	47441602	47441602	Human	4	name , trait , alternate_id
38598289	CV963281	single nucleotide variant	NM_005055.5(RAPSN):c.691-5C>T	Fetal akinesia deformation sequence 1 [RCV001407053]\|not specified [RCV001251309]	likely benign\|uncertain significance	11	47441926	47441926	Human	2	name
127237582	CV1078285	single nucleotide variant	NM_005055.5(RAPSN):c.193-10C>T	Fetal akinesia deformation sequence 1 [RCV001392336]	likely benign	11	47448160	47448160	Human	2	name
127262175	CV1099998	single nucleotide variant	NM_005055.5(RAPSN):c.690+10C>G	Fetal akinesia deformation sequence 1 [RCV001428222]	likely benign	11	47442646	47442646	Human	2	name
127298164	CV1142346	single nucleotide variant	NM_005055.5(RAPSN):c.192+10C>A	Fetal akinesia deformation sequence 1 [RCV001497967]	likely benign	11	47448763	47448763	Human	2	name
150531133	CV1290759	single nucleotide variant	NM_005055.5(RAPSN):c.532-37A>C	not provided [RCV001732910]	likely benign	11	47442851	47442851	Human		name
151751659	CV1458960	single nucleotide variant	NM_005055.5(RAPSN):c.690+14G>T	Fetal akinesia deformation sequence 1 [RCV002043344]	uncertain significance	11	47442642	47442642	Human	2	name
152090573	CV1525549	single nucleotide variant	NM_005055.5(RAPSN):c.690+19G>A	Fetal akinesia deformation sequence 1 [RCV002150537]	likely benign	11	47442637	47442637	Human	2	name
152030147	CV1566032	single nucleotide variant	NM_005055.5(RAPSN):c.532-12T>C	Fetal akinesia deformation sequence 1 [RCV002086046]	likely benign	11	47442826	47442826	Human	2	name
152029927	CV1568758	single nucleotide variant	NM_005055.5(RAPSN):c.192+10C>T	Fetal akinesia deformation sequence 1 [RCV002186319]	likely benign	11	47448763	47448763	Human	2	name
152159441	CV1588065	single nucleotide variant	NM_005055.5(RAPSN):c.790-15C>G	Fetal akinesia deformation sequence 1 [RCV002180667]	likely benign	11	47441748	47441748	Human	2	name
152123351	CV1594282	single nucleotide variant	NM_005055.5(RAPSN):c.966+16G>A	Fetal akinesia deformation sequence 1 [RCV002175873]	likely benign	11	47441143	47441143	Human	2	name
152049567	CV1602467	single nucleotide variant	NM_005055.5(RAPSN):c.789+17G>A	Fetal akinesia deformation sequence 1 [RCV002127071]	likely benign	11	47441806	47441806	Human	2	name
152034341	CV1639434	single nucleotide variant	NM_005055.5(RAPSN):c.1166+7G>T	Fetal akinesia deformation sequence 1 [RCV002187243]	likely benign	11	47438725	47438725	Human	2	name
152098028	CV1639776	single nucleotide variant	NM_005055.5(RAPSN):c.912+11G>T	Fetal akinesia deformation sequence 1 [RCV002078612]	likely benign	11	47441600	47441600	Human	2	name
152173789	CV1659874	single nucleotide variant	NM_005055.5(RAPSN):c.913-18C>T	Fetal akinesia deformation sequence 1 [RCV002162925]	likely benign	11	47441230	47441230	Human	2	name
152026117	CV1666212	single nucleotide variant	NM_005055.5(RAPSN):c.967-10C>T	Fetal akinesia deformation sequence 1 [RCV002084692]	likely benign	11	47438941	47438941	Human	2	name
152154179	CV1667850	single nucleotide variant	NM_005055.5(RAPSN):c.690+46G>A	not provided [RCV002221742]	likely benign	11	47442610	47442610	Human		name
156359769	CV1891541	single nucleotide variant	NM_005055.5(RAPSN):c.1166+2T>G	Fetal akinesia deformation sequence 1 [RCV003091624]	pathogenic	11	47438730	47438730	Human	2	name
156058053	CV1892184	single nucleotide variant	NM_005055.5(RAPSN):c.1166+1G>C	Fetal akinesia deformation sequence 1 [RCV003079119]	pathogenic	11	47438731	47438731	Human	2	name
156363373	CV1901404	single nucleotide variant	NM_005055.5(RAPSN):c.1167-8C>T	Fetal akinesia deformation sequence 1 [RCV002602652]	likely benign	11	47438055	47438055	Human	2	name
156167802	CV1930057	single nucleotide variant	NM_005055.5(RAPSN):c.1166+7G>A	Fetal akinesia deformation sequence 1 [RCV002624609]	likely benign	11	47438725	47438725	Human	2	name
156449613	CV1941879	single nucleotide variant	NM_005055.5(RAPSN):c.1166+1G>T	Fetal akinesia deformation sequence 1 [RCV003121739]	pathogenic	11	47438731	47438731	Human	2	name
10048724	CV194410	deletion	NM_005055.5(RAPSN):c.691-11del	Congenital Myasthenic Syndrome, Recessive [RCV000288381]\|Congenital myasthenic syndrome 11 [RCV001795296]\|Congenital myasthenic syndrome [RCV001275246]\|Fetal akinesia deformation sequence 1 [RCV000382725]\|Fetal akinesia deformation sequence 1 [RCV002054108]\|Fetal akinesia deformation sequence 2 [RCV ... (more) 001795297]\|not provided [RCV001704850]\|not specified [RCV000178237]	benign	11	47441932	47441932	Human	5	name
156386465	CV1986489	single nucleotide variant	NM_005055.5(RAPSN):c.192+17T>C	Fetal akinesia deformation sequence 1 [RCV002634645]	likely benign	11	47448756	47448756	Human	2	name
156101926	CV1991962	single nucleotide variant	NM_005055.5(RAPSN):c.789+11C>G	Fetal akinesia deformation sequence 1 [RCV002622248]	likely benign	11	47441812	47441812	Human	2	name
155938859	CV2054770	single nucleotide variant	NM_005055.5(RAPSN):c.1167-9C>T	Fetal akinesia deformation sequence 1 [RCV002815553]	likely benign	11	47438056	47438056	Human	2	name
156213227	CV2088798	single nucleotide variant	NM_005055.5(RAPSN):c.193-18C>T	Fetal akinesia deformation sequence 1 [RCV002893881]	likely benign	11	47448168	47448168	Human	2	name
155988097	CV2094255	single nucleotide variant	NM_005055.5(RAPSN):c.690+11G>A	Fetal akinesia deformation sequence 1 [RCV002882258]	likely benign	11	47442645	47442645	Human	2	name
156250785	CV2098028	single nucleotide variant	NM_005055.5(RAPSN):c.790-19C>A	Fetal akinesia deformation sequence 1 [RCV002895252]	likely benign	11	47441752	47441752	Human	2	name
156243014	CV2101539	single nucleotide variant	NM_005055.5(RAPSN):c.789+12G>A	Fetal akinesia deformation sequence 1 [RCV002894980]	likely benign	11	47441811	47441811	Human	2	name
156317981	CV2104343	single nucleotide variant	NM_005055.5(RAPSN):c.193-11G>A	Fetal akinesia deformation sequence 1 [RCV002937568]	likely benign	11	47448161	47448161	Human	2	name
156040037	CV2121435	single nucleotide variant	NM_005055.5(RAPSN):c.691-11C>T	Fetal akinesia deformation sequence 1 [RCV002923878]	likely benign	11	47441932	47441932	Human	2	name
8560273	CV23092	single nucleotide variant	NM_005055.5(RAPSN):c.193-15C>A	Congenital myasthenic syndrome 11 [RCV000008519]\|Congenital myasthenic syndrome [RCV004766987]\|Fetal akinesia deformation sequence 1 [RCV001851739]	pathogenic\|likely pathogenic\|uncertain significance	11	47448165	47448165	Human	4	name
11548316	CV254192	single nucleotide variant	NM_005055.5(RAPSN):c.913-15A>G	Fetal akinesia deformation sequence 1 [RCV002058179]\|not provided [RCV000841943]\|not specified [RCV000248932]	benign\|likely benign	11	47441227	47441227	Human	2	name
11550523	CV254195	single nucleotide variant	NM_005055.5(RAPSN):c.531+23C>T	not specified [RCV000251863]	likely benign	11	47447789	47447789	Human		name
11546508	CV254197	single nucleotide variant	NM_005055.5(RAPSN):c.193-15C>T	Congenital myasthenic syndrome 11 [RCV000338570]\|Congenital myasthenic syndrome [RCV001275251]\|Fetal akinesia deformation sequence 1 [RCV000371752]\|Fetal akinesia deformation sequence 1 [RCV002058178]\|Fetal akinesia deformation sequence 2 [RCV001538026]\|not provided [RCV004718140]\|not specified [RCV ... (more) 000246555]	benign\|likely benign	11	47448165	47448165	Human	5	name
11542909	CV254198	single nucleotide variant	NM_005055.5(RAPSN):c.192+46G>A	not provided [RCV001560217]\|not specified [RCV000241763]	likely benign	11	47448727	47448727	Human		name
402492527	CV3082155	single nucleotide variant	NM_005055.5(RAPSN):c.790-15C>A	Fetal akinesia deformation sequence 1 [RCV003787715]	likely benign	11	47441748	47441748	Human	2	name
405005621	CV3082763	single nucleotide variant	NM_005055.5(RAPSN):c.690+18G>A	Fetal akinesia deformation sequence 1 [RCV003783862]	likely benign	11	47442638	47442638	Human	2	name
405011055	CV3083399	single nucleotide variant	NM_005055.5(RAPSN):c.532-19C>T	Fetal akinesia deformation sequence 1 [RCV003784346]	likely benign	11	47442833	47442833	Human	2	name
405011377	CV3083428	single nucleotide variant	NM_005055.5(RAPSN):c.967-19C>G	Fetal akinesia deformation sequence 1 [RCV003784375]	likely benign	11	47438950	47438950	Human	2	name
405021754	CV3085606	single nucleotide variant	NM_005055.5(RAPSN):c.967-20T>C	Fetal akinesia deformation sequence 1 [RCV003785329]	likely benign	11	47438951	47438951	Human	2	name
402514548	CV3085665	single nucleotide variant	NM_005055.5(RAPSN):c.789+11C>T	Fetal akinesia deformation sequence 1 [RCV003780592]	likely benign	11	47441812	47441812	Human	2	name
404998038	CV3085773	single nucleotide variant	NM_005055.5(RAPSN):c.966+14C>G	Fetal akinesia deformation sequence 1 [RCV003783143]	likely benign	11	47441145	47441145	Human	2	name
405000474	CV3086019	single nucleotide variant	NM_005055.5(RAPSN):c.531+20G>A	Fetal akinesia deformation sequence 1 [RCV003783391]	likely benign	11	47447792	47447792	Human	2	name
404982501	CV3086851	single nucleotide variant	NM_005055.5(RAPSN):c.691-16C>G	Fetal akinesia deformation sequence 1 [RCV003781469]	likely benign	11	47441937	47441937	Human	2	name
402516851	CV3087755	single nucleotide variant	NM_005055.5(RAPSN):c.532-17T>C	Fetal akinesia deformation sequence 1 [RCV003790108]	likely benign	11	47442831	47442831	Human	2	name
404987596	CV3087795	single nucleotide variant	NM_005055.5(RAPSN):c.912+18C>T	Fetal akinesia deformation sequence 1 [RCV003782100]	likely benign	11	47441593	47441593	Human	2	name
404996253	CV3088499	single nucleotide variant	NM_005055.5(RAPSN):c.790-17C>T	Fetal akinesia deformation sequence 1 [RCV003793276]	likely benign	11	47441750	47441750	Human	2	name
402508803	CV3088844	single nucleotide variant	NM_005055.5(RAPSN):c.912+11G>A	Fetal akinesia deformation sequence 1 [RCV003780048]	likely benign	11	47441600	47441600	Human	2	name
402487080	CV3090475	single nucleotide variant	NM_005055.5(RAPSN):c.912+15T>C	Fetal akinesia deformation sequence 1 [RCV003787136]	likely benign	11	47441596	47441596	Human	2	name
402501953	CV3093406	single nucleotide variant	NM_005055.5(RAPSN):c.192+13G>A	Fetal akinesia deformation sequence 1 [RCV003788713]	likely benign	11	47448760	47448760	Human	2	name
402484166	CV3093649	single nucleotide variant	NM_005055.5(RAPSN):c.193-16C>A	Fetal akinesia deformation sequence 1 [RCV003786848]	likely benign	11	47448166	47448166	Human	2	name
404992019	CV3094315	deletion	NM_005055.5(RAPSN):c.691-10del	Fetal akinesia deformation sequence 1 [RCV003782565]	likely benign	11	47441931	47441931	Human	2	name
405020333	CV3094543	single nucleotide variant	NM_005055.5(RAPSN):c.790-17C>G	Fetal akinesia deformation sequence 1 [RCV003785234]	likely benign	11	47441750	47441750	Human	2	name
405028313	CV3094867	single nucleotide variant	NM_005055.5(RAPSN):c.690+14G>A	Fetal akinesia deformation sequence 1 [RCV003796229]	likely benign	11	47442642	47442642	Human	2	name
405030837	CV3095227	single nucleotide variant	NM_005055.5(RAPSN):c.790-15C>T	Fetal akinesia deformation sequence 1 [RCV003796433]	likely benign	11	47441748	47441748	Human	2	name
404981522	CV3095894	single nucleotide variant	NM_005055.5(RAPSN):c.193-17A>C	Fetal akinesia deformation sequence 1 [RCV003791604]	likely benign	11	47448167	47448167	Human	2	name
404984208	CV3096430	single nucleotide variant	NM_005055.5(RAPSN):c.966+19T>C	Fetal akinesia deformation sequence 1 [RCV003791979]	likely benign	11	47441140	47441140	Human	2	name
404980048	CV3099523	deletion	NM_005055.5(RAPSN):c.192+12del	Fetal akinesia deformation sequence 1 [RCV003791352]	likely benign	11	47448761	47448761	Human	2	name
404982471	CV3100100	single nucleotide variant	NM_005055.5(RAPSN):c.531+18G>A	Fetal akinesia deformation sequence 1 [RCV003791767]	likely benign	11	47447794	47447794	Human	2	name
405152740	CV3101952	single nucleotide variant	NM_005055.5(RAPSN):c.789+17G>T	Fetal akinesia deformation sequence 1 [RCV003801556]	likely benign	11	47441806	47441806	Human	2	name
405002461	CV3102077	single nucleotide variant	NM_005055.5(RAPSN):c.193-12C>T	Fetal akinesia deformation sequence 1 [RCV003804122]	likely benign	11	47448162	47448162	Human	2	name
405003126	CV3102139	single nucleotide variant	NM_005055.5(RAPSN):c.531+17G>C	Fetal akinesia deformation sequence 1 [RCV003804185]	likely benign	11	47447795	47447795	Human	2	name
402525436	CV3102666	single nucleotide variant	NM_005055.5(RAPSN):c.691-20G>A	Fetal akinesia deformation sequence 1 [RCV003790760]	likely benign	11	47441941	47441941	Human	2	name
405177777	CV3105359	single nucleotide variant	NM_005055.5(RAPSN):c.192+11C>T	Fetal akinesia deformation sequence 1 [RCV003803682]	likely benign	11	47448762	47448762	Human	2	name
405094368	CV3105529	single nucleotide variant	NM_005055.5(RAPSN):c.790-12C>G	Fetal akinesia deformation sequence 1 [RCV003801246]	likely benign	11	47441745	47441745	Human	2	name
405095834	CV3105662	single nucleotide variant	NM_005055.5(RAPSN):c.531+17G>A	Fetal akinesia deformation sequence 1 [RCV003801379]	likely benign	11	47447795	47447795	Human	2	name
405037803	CV3106329	single nucleotide variant	NM_005055.5(RAPSN):c.790-13C>T	Fetal akinesia deformation sequence 1 [RCV003797020]	likely benign	11	47441746	47441746	Human	2	name
405059735	CV3108339	single nucleotide variant	NM_005055.5(RAPSN):c.531+15C>G	Fetal akinesia deformation sequence 1 [RCV003808917]	likely benign	11	47447797	47447797	Human	2	name
405107041	CV3113719	single nucleotide variant	NM_005055.5(RAPSN):c.531+19G>C	Fetal akinesia deformation sequence 1 [RCV003812842]	likely benign	11	47447793	47447793	Human	2	name
405078031	CV3114640	single nucleotide variant	NM_005055.5(RAPSN):c.193-16C>T	Fetal akinesia deformation sequence 1 [RCV003810203]	likely benign	11	47448166	47448166	Human	2	name
11607442	CV314302	single nucleotide variant	NM_005055.5(RAPSN):c.690+10C>T	Congenital myasthenic syndrome 11 [RCV000343403]\|Congenital myasthenic syndrome [RCV001274412]\|Fetal akinesia deformation sequence 1 [RCV000392928]\|Fetal akinesia deformation sequence 1 [RCV000946126]	benign\|uncertain significance	11	47442646	47442646	Human	4	name
11601125	CV314304	single nucleotide variant	NM_005055.5(RAPSN):c.192+12C>T	Congenital myasthenic syndrome 11 [RCV000279556]\|Fetal akinesia deformation sequence 1 [RCV000350937]\|Fetal akinesia deformation sequence 1 [RCV002056208]	likely benign\|uncertain significance	11	47448761	47448761	Human	3	name
597838157	CV3871005	single nucleotide variant	NM_005055.5(RAPSN):c.1167-5C>T	Fetal akinesia deformation sequence 1 [RCV005210664]	likely benign	11	47438052	47438052	Human	2	name
597835806	CV3874284	single nucleotide variant	NM_005055.5(RAPSN):c.913-10C>T	Fetal akinesia deformation sequence 1 [RCV005210204]	likely benign	11	47441222	47441222	Human	2	name
13540214	CV503668	single nucleotide variant	NM_005055.5(RAPSN):c.193-14G>A	Congenital myasthenic syndrome 11 [RCV001103664]\|Fetal akinesia deformation sequence 1 [RCV001103665]\|Fetal akinesia deformation sequence 1 [RCV002066747]\|not specified [RCV000614382]	benign\|likely benign	11	47448164	47448164	Human	3	name
13539735	CV503863	single nucleotide variant	NM_005055.5(RAPSN):c.912+20A>G	Fetal akinesia deformation sequence 1 [RCV003767639]\|not specified [RCV000613687]	likely benign	11	47441591	47441591	Human	2	name
14709846	CV666170	deletion	NM_005055.5(RAPSN):c.913-75del	not provided [RCV000827533]	benign	11	47441287	47441287	Human		name
150421857	CV1180837	single nucleotide variant	NM_005055.5(RAPSN):c.531+161T>C	not provided [RCV001552206]	likely benign	11	47447651	47447651	Human		name
150429172	CV1187756	single nucleotide variant	NM_005055.5(RAPSN):c.690+175G>T	not provided [RCV001563250]	likely benign	11	47442481	47442481	Human		name
150417963	CV1198215	single nucleotide variant	NM_005055.5(RAPSN):c.193-103G>T	not provided [RCV001576535]	likely benign	11	47448253	47448253	Human		name
150482949	CV1245029	single nucleotide variant	NM_005055.5(RAPSN):c.193-120C>T	not provided [RCV001653206]	benign	11	47448270	47448270	Human		name
150470961	CV1248117	single nucleotide variant	NM_005055.5(RAPSN):c.532-218G>A	not provided [RCV001671153]	benign	11	47443032	47443032	Human		name
150489357	CV1250540	single nucleotide variant	NM_005055.5(RAPSN):c.532-153C>T	not provided [RCV001674503]	benign	11	47442967	47442967	Human		name
150442648	CV1264469	single nucleotide variant	NM_005055.5(RAPSN):c.966+275C>T	not provided [RCV001679452]	benign	11	47440884	47440884	Human		name
151839876	CV1507901	single nucleotide variant	NM_005055.5(RAPSN):c.1166+15G>C	Fetal akinesia deformation sequence 1 [RCV001956614]	likely benign	11	47438717	47438717	Human	2	name
152175233	CV1586258	single nucleotide variant	NM_005055.5(RAPSN):c.1166+15G>A	Fetal akinesia deformation sequence 1 [RCV002184792]	likely benign	11	47438717	47438717	Human	2	name
152120605	CV1593845	single nucleotide variant	NM_005055.5(RAPSN):c.1166+18G>A	Fetal akinesia deformation sequence 1 [RCV002098094]	likely benign	11	47438714	47438714	Human	2	name
152165330	CV1611325	single nucleotide variant	NM_005055.5(RAPSN):c.1166+13G>C	Fetal akinesia deformation sequence 1 [RCV002141698]	likely benign	11	47438719	47438719	Human	2	name
152104589	CV1622672	deletion	NM_005055.5(RAPSN):c.1166+19del	Fetal akinesia deformation sequence 1 [RCV002214634]	benign	11	47438713	47438713	Human	2	name
152048392	CV1627535	single nucleotide variant	NM_005055.5(RAPSN):c.1166+16G>A	Fetal akinesia deformation sequence 1 [RCV002108626]\|not provided [RCV005242187]	likely benign	11	47438716	47438716	Human	2	name
152114178	CV1651103	single nucleotide variant	NM_005055.5(RAPSN):c.1167-17G>A	Fetal akinesia deformation sequence 1 [RCV002153443]	likely benign	11	47438064	47438064	Human	2	name
156193754	CV1893227	single nucleotide variant	NM_005055.5(RAPSN):c.1166+10C>T	Fetal akinesia deformation sequence 1 [RCV003083961]	likely benign	11	47438722	47438722	Human	2	name
156168286	CV1971627	single nucleotide variant	NM_005055.5(RAPSN):c.1166+17G>A	Fetal akinesia deformation sequence 1 [RCV002594694]	likely benign	11	47438715	47438715	Human	2	name
155927503	CV2095808	single nucleotide variant	NM_005055.5(RAPSN):c.1166+13G>T	Fetal akinesia deformation sequence 1 [RCV002903648]	likely benign	11	47438719	47438719	Human	2	name
156214996	CV2107000	single nucleotide variant	NM_005055.5(RAPSN):c.1166+15G>T	Fetal akinesia deformation sequence 1 [RCV002918324]	likely benign	11	47438717	47438717	Human	2	name
156222108	CV2124416	single nucleotide variant	NM_005055.5(RAPSN):c.1166+14G>C	Fetal akinesia deformation sequence 1 [RCV002958183]	likely benign	11	47438718	47438718	Human	2	name
405024261	CV3082015	single nucleotide variant	NM_005055.5(RAPSN):c.1166+16G>T	Fetal akinesia deformation sequence 1 [RCV003785621]	likely benign	11	47438716	47438716	Human	2	name
405027540	CV3082413	duplication	NM_005055.5(RAPSN):c.1166+19dup	Fetal akinesia deformation sequence 1 [RCV003785864]	benign	11	47438712	47438713	Human	2	name
404998973	CV3084858	single nucleotide variant	NM_005055.5(RAPSN):c.1166+10C>G	Fetal akinesia deformation sequence 1 [RCV003793531]	likely benign	11	47438722	47438722	Human	2	name
402513856	CV3087512	single nucleotide variant	NM_005055.5(RAPSN):c.1166+19G>A	Fetal akinesia deformation sequence 1 [RCV003789863]	likely benign	11	47438713	47438713	Human	2	name
404997074	CV3088572	single nucleotide variant	NM_005055.5(RAPSN):c.1166+13G>A	Fetal akinesia deformation sequence 1 [RCV003793349]	likely benign	11	47438719	47438719	Human	2	name
402507840	CV3090665	single nucleotide variant	NM_005055.5(RAPSN):c.1167-20A>G	Fetal akinesia deformation sequence 1 [RCV003789281]	likely benign	11	47438067	47438067	Human	2	name
402490547	CV3090987	single nucleotide variant	NM_005055.5(RAPSN):c.1166+18G>C	Fetal akinesia deformation sequence 1 [RCV003787489]	likely benign	11	47438714	47438714	Human	2	name
405034788	CV3105815	single nucleotide variant	NM_005055.5(RAPSN):c.1167-12T>C	Fetal akinesia deformation sequence 1 [RCV003796664]	likely benign	11	47438059	47438059	Human	2	name
405107915	CV3112200	single nucleotide variant	NM_005055.5(RAPSN):c.1166+14G>A	Fetal akinesia deformation sequence 1 [RCV003813043]	likely benign	11	47438718	47438718	Human	2	name
405273078	CV3210297	single nucleotide variant	NM_005055.5(RAPSN):c.1167-36C>A	RAPSN-related disorder [RCV004539476]	likely benign	11	47438083	47438083	Human	1	name , trait , alternate_id
597889351	CV3871300	single nucleotide variant	NM_005055.5(RAPSN):c.1166+11C>T	Fetal akinesia deformation sequence 1 [RCV005218633]	likely benign	11	47438721	47438721	Human	2	name
597863204	CV3875341	single nucleotide variant	NM_005055.5(RAPSN):c.1167-19G>A	Fetal akinesia deformation sequence 1 [RCV005214518]	likely benign	11	47438066	47438066	Human	2	name
14738310	CV665745	single nucleotide variant	NM_005055.5(RAPSN):c.193-243G>A	not provided [RCV000839341]	likely benign	11	47448393	47448393	Human		name
14746231	CV665908	single nucleotide variant	NM_005055.5(RAPSN):c.1166+278A>G	not provided [RCV000844219]	benign	11	47438454	47438454	Human		name
14711627	CV665909	single nucleotide variant	NM_005055.5(RAPSN):c.1166+185G>A	not provided [RCV000828107]	benign	11	47438547	47438547	Human		name
127244927	CV1056021	duplication	NM_005055.5(RAPSN):c.911_912+1dup	Fetal akinesia deformation sequence 1 [RCV001377328]	likely pathogenic	11	47441609	47441610	Human	2	name
401948107	CV2833248	deletion	NM_005055.5(RAPSN):c.193-5_201del	Congenital myasthenic syndrome 11 [RCV005051317]\|Fetal akinesia deformation sequence 1 [RCV003779089]\|Fetal akinesia deformation sequence 2 [RCV003471787]	likely pathogenic	11	47448142	47448155	Human	4	name
11618032	CV328018	insertion	NM_005055.5(RAPSN):c.-73_-72insAT	Congenital Myasthenic Syndrome, Recessive [RCV000309783]\|Fetal akinesia deformation sequence 1 [RCV000362641]	uncertain significance	11	47449036	47449037	Human	3	name
38473196	CV941000	duplication	NM_005055.5(RAPSN):c.691-2_732dup	Fetal akinesia deformation sequence 1 [RCV001219339]	uncertain significance	11	47441879	47441880	Human	2	name
152162765	CV1593291	duplication	NM_005055.5(RAPSN):c.789_789+15dup	Fetal akinesia deformation sequence 1 [RCV002104114]	likely benign	11	47441807	47441808	Human	2	name
127307201	CV1142349	single nucleotide variant	NM_005055.5(RAPSN):c.27G>A (p.Gln9=)	Fetal akinesia deformation sequence 1 [RCV001480260]	likely benign	11	47448938	47448938	Human	2	name
127247371	CV1100002	single nucleotide variant	NM_005055.5(RAPSN):c.76T>C (p.Leu26=)	Fetal akinesia deformation sequence 1 [RCV001424680]	likely benign	11	47448889	47448889	Human	2	name
127282271	CV1100003	single nucleotide variant	NM_005055.5(RAPSN):c.48G>A (p.Leu16=)	Fetal akinesia deformation sequence 1 [RCV001447715]	likely benign	11	47448917	47448917	Human	2	name
127234872	CV1100004	single nucleotide variant	NM_005055.5(RAPSN):c.30C>T (p.Ile10=)	Fetal akinesia deformation sequence 1 [RCV001422149]\|not provided [RCV002070270]	likely benign	11	47448935	47448935	Human	2	name
127303384	CV1121473	single nucleotide variant	NM_005055.5(RAPSN):c.99G>A (p.Leu33=)	Fetal akinesia deformation sequence 1 [RCV001461918]	likely benign	11	47448866	47448866	Human	2	name
127326869	CV1121474	single nucleotide variant	NM_005055.5(RAPSN):c.90A>G (p.Thr30=)	Fetal akinesia deformation sequence 1 [RCV001468898]	likely benign	11	47448875	47448875	Human	2	name
127290750	CV1121475	single nucleotide variant	NM_005055.5(RAPSN):c.78G>A (p.Leu26=)	Fetal akinesia deformation sequence 1 [RCV001458521]	likely benign	11	47448887	47448887	Human	2	name
151718165	CV1506433	single nucleotide variant	NM_005055.5(RAPSN):c.7C>T (p.Gln3Ter)	Fetal akinesia deformation sequence 1 [RCV001909290]	pathogenic	11	47448958	47448958	Human	2	name
152060075	CV1532829	single nucleotide variant	NM_005055.5(RAPSN):c.96G>T (p.Val32=)	Fetal akinesia deformation sequence 1 [RCV002208545]	likely benign	11	47448869	47448869	Human	2	name
152047060	CV1556346	single nucleotide variant	NM_005055.5(RAPSN):c.54G>A (p.Gln18=)	Fetal akinesia deformation sequence 1 [RCV002207044]	likely benign	11	47448911	47448911	Human	2	name
152032917	CV1614920	single nucleotide variant	NM_005055.5(RAPSN):c.30C>A (p.Ile10=)	Fetal akinesia deformation sequence 1 [RCV002086676]	likely benign	11	47448935	47448935	Human	2	name
156340062	CV1902620	single nucleotide variant	NM_005055.5(RAPSN):c.3G>T (p.Met1Ile)	Fetal akinesia deformation sequence 1 [RCV003090311]	pathogenic	11	47448962	47448962	Human	2	name
156321603	CV2057148	single nucleotide variant	NM_005055.5(RAPSN):c.1A>G (p.Met1Val)	Fetal akinesia deformation sequence 1 [RCV002810112]	pathogenic	11	47448964	47448964	Human	2	name
156078491	CV2170997	single nucleotide variant	NM_005055.5(RAPSN):c.66A>G (p.Thr22=)	Fetal akinesia deformation sequence 1 [RCV003020269]	likely benign	11	47448899	47448899	Human	2	name
405028175	CV3094857	single nucleotide variant	NM_005055.5(RAPSN):c.75A>G (p.Ala25=)	Fetal akinesia deformation sequence 1 [RCV003796219]	likely benign	11	47448890	47448890	Human	2	name
405013518	CV3114260	single nucleotide variant	NM_005055.5(RAPSN):c.66A>C (p.Thr22=)	Fetal akinesia deformation sequence 1 [RCV003805114]	likely benign	11	47448899	47448899	Human	2	name
597929581	CV3879204	single nucleotide variant	NM_005055.5(RAPSN):c.48G>C (p.Leu16=)	Fetal akinesia deformation sequence 1 [RCV005224701]	likely benign	11	47448917	47448917	Human	2	name
15130892	CV784024	single nucleotide variant	NM_005055.5(RAPSN):c.39G>T (p.Gly13=)	Congenital myasthenic syndrome [RCV001276400]\|Fetal akinesia deformation sequence 1 [RCV001446256]	likely benign\|uncertain significance	11	47448926	47448926	Human	3	name
38473291	CV926269	duplication	NM_005055.5(RAPSN):c.11dup (p.Asp4fs)	Fetal akinesia deformation sequence 1 [RCV001224618]\|Fetal akinesia deformation sequence 2 [RCV003462765]	pathogenic\|likely pathogenic	11	47448953	47448954	Human	3	name
127258748	CV1062377	duplication	NM_005055.5(RAPSN):c.46dup (p.Leu16fs)	Congenital myasthenic syndrome 11 [RCV002280825]\|Fetal akinesia deformation sequence 1 [RCV001387008]\|Fetal akinesia deformation sequence 2 [RCV003463017]	pathogenic	11	47448918	47448919	Human	4	name
127234149	CV1078284	single nucleotide variant	NM_005055.5(RAPSN):c.282G>A (p.Glu94=)	Fetal akinesia deformation sequence 1 [RCV001396375]	likely benign	11	47448061	47448061	Human	2	name
127310412	CV1121471	single nucleotide variant	NM_005055.5(RAPSN):c.246C>G (p.Leu82=)	Fetal akinesia deformation sequence 1 [RCV001456607]	likely benign	11	47448097	47448097	Human	2	name
127309466	CV1121472	single nucleotide variant	NM_005055.5(RAPSN):c.219C>G (p.Ala73=)	Fetal akinesia deformation sequence 1 [RCV001456302]	likely benign	11	47448124	47448124	Human	2	name
127296392	CV1142341	single nucleotide variant	NM_005055.5(RAPSN):c.294G>A (p.Glu98=)	Fetal akinesia deformation sequence 1 [RCV001497456]	likely benign	11	47448049	47448049	Human	2	name
127313139	CV1142342	single nucleotide variant	NM_005055.5(RAPSN):c.237C>T (p.Ala79=)	Fetal akinesia deformation sequence 1 [RCV001481881]	likely benign	11	47448106	47448106	Human	2	name
127321721	CV1142343	single nucleotide variant	NM_005055.5(RAPSN):c.228G>A (p.Leu76=)	Fetal akinesia deformation sequence 1 [RCV001484649]	likely benign	11	47448115	47448115	Human	2	name
127313817	CV1142344	single nucleotide variant	NM_005055.5(RAPSN):c.225G>A (p.Glu75=)	Fetal akinesia deformation sequence 1 [RCV001502287]	likely benign	11	47448118	47448118	Human	2	name
127328250	CV1142345	single nucleotide variant	NM_005055.5(RAPSN):c.198T>G (p.Ala66=)	Fetal akinesia deformation sequence 1 [RCV001506961]	likely benign	11	47448145	47448145	Human	2	name
127335691	CV1142348	single nucleotide variant	NM_005055.5(RAPSN):c.132C>T (p.Arg44=)	Fetal akinesia deformation sequence 1 [RCV001491671]	likely benign	11	47448833	47448833	Human	2	name
152160381	CV1522839	single nucleotide variant	NM_005055.5(RAPSN):c.150C>A (p.Val50=)	Fetal akinesia deformation sequence 1 [RCV002140816]	likely benign	11	47448815	47448815	Human	2	name
152158254	CV1552884	single nucleotide variant	NM_005055.5(RAPSN):c.174C>A (p.Arg58=)	Fetal akinesia deformation sequence 1 [RCV002180459]	likely benign	11	47448791	47448791	Human	2	name
152133309	CV1557472	single nucleotide variant	NM_005055.5(RAPSN):c.210C>T (p.Ile70=)	Fetal akinesia deformation sequence 1 [RCV002137219]	likely benign	11	47448133	47448133	Human	2	name
152169179	CV1661091	single nucleotide variant	NM_005055.5(RAPSN):c.105G>A (p.Lys35=)	Fetal akinesia deformation sequence 1 [RCV002142703]	likely benign	11	47448860	47448860	Human	2	name
156384906	CV1971878	single nucleotide variant	NM_005055.5(RAPSN):c.286C>T (p.Leu96=)	Fetal akinesia deformation sequence 1 [RCV002604229]	likely benign	11	47448057	47448057	Human	2	name
156125487	CV2036285	single nucleotide variant	NM_005055.5(RAPSN):c.183G>A (p.Glu61=)	Fetal akinesia deformation sequence 1 [RCV002785960]	likely benign	11	47448782	47448782	Human	2	name
156015959	CV2046674	single nucleotide variant	NM_005055.5(RAPSN):c.171C>T (p.Gly57=)	Fetal akinesia deformation sequence 1 [RCV002756937]	likely benign	11	47448794	47448794	Human	2	name
156260831	CV2057147	single nucleotide variant	NM_005055.5(RAPSN):c.22C>T (p.Gln8Ter)	Fetal akinesia deformation sequence 1 [RCV002792011]	pathogenic	11	47448943	47448943	Human	2	name
156019967	CV2081377	single nucleotide variant	NM_005055.5(RAPSN):c.265C>T (p.Leu89=)	Fetal akinesia deformation sequence 1 [RCV002866557]	likely benign	11	47448078	47448078	Human	2	name
156135980	CV2085839	single nucleotide variant	NM_005055.5(RAPSN):c.210C>A (p.Ile70=)	Fetal akinesia deformation sequence 1 [RCV002871807]	likely benign	11	47448133	47448133	Human	2	name
156213757	CV2088881	single nucleotide variant	NM_005055.5(RAPSN):c.156C>T (p.Ala52=)	Fetal akinesia deformation sequence 1 [RCV002893902]	likely benign	11	47448809	47448809	Human	2	name
155903449	CV2151784	single nucleotide variant	NM_005055.5(RAPSN):c.108C>T (p.Ser36=)	Fetal akinesia deformation sequence 1 [RCV003011775]	likely benign	11	47448857	47448857	Human	2	name
11546125	CV254199	single nucleotide variant	NM_005055.5(RAPSN):c.162G>A (p.Ser54=)	Congenital myasthenic syndrome 11 [RCV001105612]\|Fetal akinesia deformation sequence 1 [RCV000545779]\|Fetal akinesia deformation sequence 1 [RCV001105613]\|not provided [RCV001705366]\|not specified [RCV000246056]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	11	47448803	47448803	Human	3	name
401948110	CV2833246	deletion	NM_005055.5(RAPSN):c.39del (p.Leu14fs)	Congenital myasthenic syndrome 11 [RCV004818347]\|Fetal akinesia deformation sequence 2 [RCV003471785]	likely pathogenic	11	47448926	47448926	Human	2	name
405020798	CV3085561	single nucleotide variant	NM_005055.5(RAPSN):c.156C>A (p.Ala52=)	Fetal akinesia deformation sequence 1 [RCV003785284]	likely benign	11	47448809	47448809	Human	2	name
402517383	CV3091703	single nucleotide variant	NM_005055.5(RAPSN):c.249G>A (p.Leu83=)	Fetal akinesia deformation sequence 1 [RCV003790149]	likely benign	11	47448094	47448094	Human	2	name
405018672	CV3094412	single nucleotide variant	NM_005055.5(RAPSN):c.123G>A (p.Gly41=)	Fetal akinesia deformation sequence 1 [RCV003785102]	likely benign	11	47448842	47448842	Human	2	name
404990354	CV3094655	single nucleotide variant	NM_005055.5(RAPSN):c.273C>G (p.Arg91=)	Fetal akinesia deformation sequence 1 [RCV003792669]	likely benign	11	47448070	47448070	Human	2	name
405063821	CV3103077	single nucleotide variant	NM_005055.5(RAPSN):c.180G>A (p.Lys60=)	Fetal akinesia deformation sequence 1 [RCV003799068]	likely benign	11	47448785	47448785	Human	2	name
405044621	CV3103860	single nucleotide variant	NM_005055.5(RAPSN):c.258C>T (p.Tyr86=)	Fetal akinesia deformation sequence 1 [RCV003797578]	likely benign	11	47448085	47448085	Human	2	name
405153377	CV3110219	single nucleotide variant	NM_005055.5(RAPSN):c.189G>A (p.Leu63=)	Fetal akinesia deformation sequence 1 [RCV003817739]	likely benign	11	47448776	47448776	Human	2	name
405069139	CV3111099	single nucleotide variant	NM_005055.5(RAPSN):c.259C>T (p.Leu87=)	Fetal akinesia deformation sequence 1 [RCV003809603]	likely benign	11	47448084	47448084	Human	2	name
405104518	CV3114437	single nucleotide variant	NM_005055.5(RAPSN):c.226C>T (p.Leu76=)	Fetal akinesia deformation sequence 1 [RCV003812276]	likely benign	11	47448117	47448117	Human	2	name
597840885	CV3864573	single nucleotide variant	NM_005055.5(RAPSN):c.141C>T (p.Gly47=)	Fetal akinesia deformation sequence 1 [RCV005211184]	likely benign	11	47448824	47448824	Human	2	name
597920419	CV3865466	deletion	NM_005055.5(RAPSN):c.94del (p.Val32fs)	Fetal akinesia deformation sequence 1 [RCV005223410]	pathogenic	11	47448871	47448871	Human	2	name
597884142	CV3866103	single nucleotide variant	NM_005055.5(RAPSN):c.117C>T (p.Leu39=)	Fetal akinesia deformation sequence 1 [RCV005217768]	likely benign	11	47448848	47448848	Human	2	name
597866611	CV3868948	single nucleotide variant	NM_005055.5(RAPSN):c.174C>T (p.Arg58=)	Fetal akinesia deformation sequence 1 [RCV005215069]	likely benign	11	47448791	47448791	Human	2	name
13480380	CV441429	single nucleotide variant	NM_005055.5(RAPSN):c.216G>A (p.Thr72=)	Fetal akinesia deformation sequence 1 [RCV000653221]\|RAPSN-related disorder [RCV004732918]\|not provided [RCV000517255]	likely benign	11	47448127	47448127	Human	2	name , trait , alternate_id
15154480	CV701789	single nucleotide variant	NM_005055.5(RAPSN):c.111G>A (p.Ser37=)	Congenital myasthenic syndrome [RCV001276399]\|Fetal akinesia deformation sequence 1 [RCV001396624]\|not provided [RCV004707496]	likely benign\|uncertain significance	11	47448854	47448854	Human	3	name
15194282	CV724471	single nucleotide variant	NM_005055.5(RAPSN):c.195C>T (p.Phe65=)	Fetal akinesia deformation sequence 1 [RCV001452457]\|RAPSN-related disorder [RCV004541815]	likely benign	11	47448148	47448148	Human	2	name , trait , alternate_id
15117307	CV738017	single nucleotide variant	NM_005055.5(RAPSN):c.246C>T (p.Leu82=)	Fetal akinesia deformation sequence 1 [RCV000895353]\|RAPSN-related disorder [RCV004541849]	likely benign	11	47448097	47448097	Human	2	name , trait , alternate_id
26904923	CV838555	single nucleotide variant	NM_005055.5(RAPSN):c.22C>A (p.Gln8Lys)	Congenital myasthenic syndrome [RCV001827218]\|Fetal akinesia deformation sequence 1 [RCV001036782]	uncertain significance	11	47448943	47448943	Human	3	name
40905968	CV979008	single nucleotide variant	NM_005055.5(RAPSN):c.279C>T (p.Asn93=)	Congenital myasthenic syndrome [RCV001279261]\|Fetal akinesia deformation sequence 1 [RCV001397962]	likely benign\|uncertain significance	11	47448064	47448064	Human	3	name
40905970	CV979010	single nucleotide variant	NM_005055.5(RAPSN):c.102G>A (p.Glu34=)	Congenital myasthenic syndrome [RCV001279265]\|Fetal akinesia deformation sequence 1 [RCV002537839]	likely benign\|uncertain significance	11	47448863	47448863	Human	3	name
126916723	CV1047281	single nucleotide variant	NM_005055.5(RAPSN):c.33G>C (p.Glu11Asp)	Congenital myasthenic syndrome [RCV001826002]\|Fetal akinesia deformation sequence 1 [RCV001360746]\|not provided [RCV003136024]	uncertain significance	11	47448932	47448932	Human	3	name
127241458	CV1078276	single nucleotide variant	NM_005055.5(RAPSN):c.837C>T (p.Ile279=)	Fetal akinesia deformation sequence 1 [RCV001393153]	likely benign	11	47441686	47441686	Human	2	name
127258373	CV1078277	single nucleotide variant	NM_005055.5(RAPSN):c.783C>T (p.Asp261=)	Fetal akinesia deformation sequence 1 [RCV001401679]	likely benign	11	47441829	47441829	Human	2	name
127260496	CV1078278	single nucleotide variant	NM_005055.5(RAPSN):c.768C>T (p.His256=)	Fetal akinesia deformation sequence 1 [RCV001402195]	likely benign	11	47441844	47441844	Human	2	name
127238172	CV1078279	single nucleotide variant	NM_005055.5(RAPSN):c.744C>T (p.Cys248=)	Fetal akinesia deformation sequence 1 [RCV001392426]	likely benign	11	47441868	47441868	Human	2	name
127278831	CV1078280	single nucleotide variant	NM_005055.5(RAPSN):c.723C>T (p.Asp241=)	Fetal akinesia deformation sequence 1 [RCV001408752]	likely benign	11	47441889	47441889	Human	2	name
127254147	CV1078281	single nucleotide variant	NM_005055.5(RAPSN):c.714G>A (p.Gln238=)	Fetal akinesia deformation sequence 1 [RCV001418505]	likely benign	11	47441898	47441898	Human	2	name
127257418	CV1078282	single nucleotide variant	NM_005055.5(RAPSN):c.537C>T (p.Tyr179=)	Fetal akinesia deformation sequence 1 [RCV001401456]	likely benign	11	47442809	47442809	Human	2	name
127236249	CV1078283	single nucleotide variant	NM_005055.5(RAPSN):c.345C>A (p.Thr115=)	Fetal akinesia deformation sequence 1 [RCV001396861]	likely benign	11	47447998	47447998	Human	2	name
127253401	CV1099996	single nucleotide variant	NM_005055.5(RAPSN):c.816C>T (p.Ala272=)	Fetal akinesia deformation sequence 1 [RCV001426031]	likely benign	11	47441707	47441707	Human	2	name
127271635	CV1100000	single nucleotide variant	NM_005055.5(RAPSN):c.492C>A (p.Arg164=)	Fetal akinesia deformation sequence 1 [RCV001441900]	likely benign	11	47447851	47447851	Human	2	name
127254850	CV1100001	single nucleotide variant	NM_005055.5(RAPSN):c.408C>T (p.Leu136=)	Fetal akinesia deformation sequence 1 [RCV001426388]	likely benign	11	47447935	47447935	Human	2	name
127333700	CV1121463	single nucleotide variant	NM_005055.5(RAPSN):c.916C>T (p.Leu306=)	Fetal akinesia deformation sequence 1 [RCV001473089]	likely benign	11	47441209	47441209	Human	2	name
127336814	CV1121464	single nucleotide variant	NM_005055.5(RAPSN):c.807C>T (p.Tyr269=)	Fetal akinesia deformation sequence 1 [RCV001475237]	likely benign	11	47441716	47441716	Human	2	name
127292444	CV1121465	single nucleotide variant	NM_005055.5(RAPSN):c.747G>C (p.Leu249=)	Fetal akinesia deformation sequence 1 [RCV001458960]	likely benign	11	47441865	47441865	Human	2	name
127325488	CV1121466	single nucleotide variant	NM_005055.5(RAPSN):c.738G>A (p.Ala246=)	Fetal akinesia deformation sequence 1 [RCV001468518]	likely benign	11	47441874	47441874	Human	2	name
127328828	CV1121467	single nucleotide variant	NM_005055.5(RAPSN):c.729A>G (p.Pro243=)	Fetal akinesia deformation sequence 1 [RCV001469830]	likely benign	11	47441883	47441883	Human	2	name
127302608	CV1121468	single nucleotide variant	NM_005055.5(RAPSN):c.726G>A (p.Arg242=)	Fetal akinesia deformation sequence 1 [RCV001461685]	likely benign	11	47441886	47441886	Human	2	name
127322087	CV1121469	single nucleotide variant	NM_005055.5(RAPSN):c.489C>T (p.Cys163=)	Fetal akinesia deformation sequence 1 [RCV001467451]	likely benign	11	47447854	47447854	Human	2	name
127298250	CV1121470	single nucleotide variant	NM_005055.5(RAPSN):c.483C>T (p.Leu161=)	Fetal akinesia deformation sequence 1 [RCV001460505]	likely benign	11	47447860	47447860	Human	2	name
127311077	CV1142333	single nucleotide variant	NM_005055.5(RAPSN):c.987C>T (p.His329=)	Fetal akinesia deformation sequence 1 [RCV001481333]	likely benign	11	47438911	47438911	Human	2	name
127321357	CV1142334	single nucleotide variant	NM_005055.5(RAPSN):c.847C>T (p.Leu283=)	Fetal akinesia deformation sequence 1 [RCV001484506]	likely benign	11	47441676	47441676	Human	2	name
127334140	CV1142335	single nucleotide variant	NM_005055.5(RAPSN):c.738G>T (p.Ala246=)	Fetal akinesia deformation sequence 1 [RCV001490662]	likely benign	11	47441874	47441874	Human	2	name
127288686	CV1142336	single nucleotide variant	NM_005055.5(RAPSN):c.708G>A (p.Ala236=)	Fetal akinesia deformation sequence 1 [RCV001495351]	likely benign	11	47441904	47441904	Human	2	name
127304622	CV1142337	single nucleotide variant	NM_005055.5(RAPSN):c.576T>C (p.Leu192=)	Fetal akinesia deformation sequence 1 [RCV001499683]\|not provided [RCV004809651]	likely benign	11	47442770	47442770	Human	2	name
127326703	CV1142338	single nucleotide variant	NM_005055.5(RAPSN):c.528C>G (p.Val176=)	Fetal akinesia deformation sequence 1 [RCV001486112]\|RAPSN-related disorder [RCV004533857]	likely benign	11	47447815	47447815	Human	2	name , trait , alternate_id
127336958	CV1142339	single nucleotide variant	NM_005055.5(RAPSN):c.504C>T (p.Ser168=)	Fetal akinesia deformation sequence 1 [RCV001492508]	likely benign	11	47447839	47447839	Human	2	name
127335604	CV1142340	single nucleotide variant	NM_005055.5(RAPSN):c.333G>T (p.Gly111=)	Fetal akinesia deformation sequence 1 [RCV001491626]	likely benign	11	47448010	47448010	Human	2	name
150555892	CV1305392	single nucleotide variant	NM_005055.5(RAPSN):c.70A>G (p.Lys24Glu)	not provided [RCV001773325]	uncertain significance	11	47448895	47448895	Human		name
8660490	CV135537	single nucleotide variant	NM_005055.5(RAPSN):c.456T>C (p.Tyr152=)	Congenital myasthenic syndrome 11 [RCV000367686]\|Congenital myasthenic syndrome [RCV001275249]\|Fetal akinesia deformation sequence 1 [RCV000315533]\|Fetal akinesia deformation sequence 1 [RCV001520681]\|Fetal akinesia deformation sequence 2 [RCV001795177]\|not provided [RCV004717978]\|not specified [RCV ... (more) 000118119]	benign\|likely benign\|conflicting interpretations of pathogenicity	11	47447887	47447887	Human	6	name
8660491	CV135538	single nucleotide variant	NM_005055.5(RAPSN):c.855G>A (p.Gln285=)	Congenital myasthenic syndrome 11 [RCV000355918]\|Congenital myasthenic syndrome 11 [RCV002498526]\|Congenital myasthenic syndrome [RCV001275245]\|Fetal akinesia deformation sequence 1 [RCV000300801]\|Fetal akinesia deformation sequence 1 [RCV001514411]\|Fetal akinesia deformation sequence 2 [RCV00153802 ... (more) 5]\|not provided [RCV004717979]\|not specified [RCV000118120]	benign\|likely benign\|conflicting interpretations of pathogenicity	11	47441668	47441668	Human	5	name
151820401	CV1365292	single nucleotide variant	NM_005055.5(RAPSN):c.73G>C (p.Ala25Pro)	Fetal akinesia deformation sequence 1 [RCV001879161]	uncertain significance	11	47448892	47448892	Human	2	name
151779256	CV1380236	deletion	NM_005055.5(RAPSN):c.210del (p.Ile70fs)	Fetal akinesia deformation sequence 1 [RCV001950912]\|Fetal akinesia deformation sequence 2 [RCV003464308]	pathogenic\|likely pathogenic	11	47448133	47448133	Human	3	name
151737202	CV1410663	single nucleotide variant	NM_005055.5(RAPSN):c.459C>T (p.Ala153=)	Fetal akinesia deformation sequence 1 [RCV002005436]	likely benign	11	47447884	47447884	Human	2	name
151720028	CV1498224	single nucleotide variant	NM_005055.5(RAPSN):c.40C>T (p.Leu14Phe)	Fetal akinesia deformation sequence 1 [RCV001965828]	uncertain significance	11	47448925	47448925	Human	2	name
152130309	CV1519645	single nucleotide variant	NM_005055.5(RAPSN):c.510C>G (p.Gly170=)	Fetal akinesia deformation sequence 1 [RCV002155441]	likely benign	11	47447833	47447833	Human	2	name
152108404	CV1520024	single nucleotide variant	NM_005055.5(RAPSN):c.765C>A (p.Ile255=)	Fetal akinesia deformation sequence 1 [RCV002134164]	likely benign	11	47441847	47441847	Human	2	name
152051572	CV1528028	single nucleotide variant	NM_005055.5(RAPSN):c.447C>T (p.Ala149=)	Fetal akinesia deformation sequence 1 [RCV002089226]	likely benign	11	47447896	47447896	Human	2	name
152041613	CV1537772	single nucleotide variant	NM_005055.5(RAPSN):c.774C>T (p.Ser258=)	Fetal akinesia deformation sequence 1 [RCV002165763]	likely benign	11	47441838	47441838	Human	2	name
152146971	CV1545869	single nucleotide variant	NM_005055.5(RAPSN):c.813C>T (p.Ser271=)	Fetal akinesia deformation sequence 1 [RCV002157581]\|not provided [RCV004707741]	likely benign	11	47441710	47441710	Human	2	name
152161018	CV1555237	single nucleotide variant	NM_005055.5(RAPSN):c.972C>T (p.Ser324=)	Fetal akinesia deformation sequence 1 [RCV002103795]	likely benign	11	47438926	47438926	Human	2	name
152095726	CV1575385	single nucleotide variant	NM_005055.5(RAPSN):c.438C>T (p.Phe146=)	Fetal akinesia deformation sequence 1 [RCV002132602]	likely benign	11	47447905	47447905	Human	2	name
152080002	CV1579954	single nucleotide variant	NM_005055.5(RAPSN):c.570A>G (p.Ala190=)	Fetal akinesia deformation sequence 1 [RCV002076242]	likely benign	11	47442776	47442776	Human	2	name
152127803	CV1581199	single nucleotide variant	NM_005055.5(RAPSN):c.558C>T (p.Pro186=)	Fetal akinesia deformation sequence 1 [RCV002099067]	likely benign	11	47442788	47442788	Human	2	name
152110190	CV1617642	single nucleotide variant	NM_005055.5(RAPSN):c.750C>T (p.Leu250=)	Fetal akinesia deformation sequence 1 [RCV002116447]	likely benign	11	47441862	47441862	Human	2	name
152105409	CV1622891	single nucleotide variant	NM_005055.5(RAPSN):c.831C>A (p.Thr277=)	Fetal akinesia deformation sequence 1 [RCV002214738]	likely benign	11	47441692	47441692	Human	2	name
152130866	CV1631030	single nucleotide variant	NM_005055.5(RAPSN):c.993G>T (p.Leu331=)	Fetal akinesia deformation sequence 1 [RCV002119069]	likely benign	11	47438905	47438905	Human	2	name
152076213	CV1632665	single nucleotide variant	NM_005055.5(RAPSN):c.327C>T (p.Cys109=)	Fetal akinesia deformation sequence 1 [RCV002169947]	likely benign	11	47448016	47448016	Human	2	name
152143580	CV1636703	single nucleotide variant	NM_005055.5(RAPSN):c.645C>T (p.Ala215=)	Fetal akinesia deformation sequence 1 [RCV002120704]	likely benign	11	47442701	47442701	Human	2	name
152113493	CV1644646	single nucleotide variant	NM_005055.5(RAPSN):c.865C>T (p.Leu289=)	Fetal akinesia deformation sequence 1 [RCV002174625]	likely benign	11	47441658	47441658	Human	2	name
152100557	CV1645600	single nucleotide variant	NM_005055.5(RAPSN):c.609G>A (p.Lys203=)	Fetal akinesia deformation sequence 1 [RCV002173041]	likely benign	11	47442737	47442737	Human	2	name
152159990	CV1649975	single nucleotide variant	NM_005055.5(RAPSN):c.423G>A (p.Lys141=)	Fetal akinesia deformation sequence 1 [RCV002159469]	likely benign	11	47447920	47447920	Human	2	name
152059553	CV1650203	single nucleotide variant	NM_005055.5(RAPSN):c.984G>T (p.Leu328=)	Fetal akinesia deformation sequence 1 [RCV002128178]	likely benign	11	47438914	47438914	Human	2	name
152165251	CV1654429	single nucleotide variant	NM_005055.5(RAPSN):c.948C>A (p.Ala316=)	Fetal akinesia deformation sequence 1 [RCV002181697]	likely benign	11	47441177	47441177	Human	2	name
152033362	CV1658003	single nucleotide variant	NM_005055.5(RAPSN):c.363C>G (p.Leu121=)	Fetal akinesia deformation sequence 1 [RCV002187073]	likely benign	11	47447980	47447980	Human	2	name
155975468	CV1885980	single nucleotide variant	NM_005055.5(RAPSN):c.339T>C (p.Pro113=)	Fetal akinesia deformation sequence 1 [RCV003075393]	likely benign	11	47448004	47448004	Human	2	name
156326143	CV1887224	single nucleotide variant	NM_005055.5(RAPSN):c.570A>T (p.Ala190=)	Fetal akinesia deformation sequence 1 [RCV003089499]	likely benign	11	47442776	47442776	Human	2	name
156196276	CV1900781	single nucleotide variant	NM_005055.5(RAPSN):c.29T>C (p.Ile10Thr)	Fetal akinesia deformation sequence 1 [RCV002574583]\|Inborn genetic diseases [RCV004961063]	uncertain significance	11	47448936	47448936	Human	3	name
156143129	CV1918273	single nucleotide variant	NM_005055.5(RAPSN):c.495G>C (p.Val165=)	Fetal akinesia deformation sequence 1 [RCV002623734]	likely benign	11	47447848	47447848	Human	2	name
156446099	CV1951122	single nucleotide variant	NM_005055.5(RAPSN):c.675C>T (p.Ala225=)	Fetal akinesia deformation sequence 1 [RCV003117063]	likely benign	11	47442671	47442671	Human	2	name
10052791	CV195341	single nucleotide variant	NM_005055.5(RAPSN):c.957G>C (p.Val319=)	Fetal akinesia deformation sequence 1 [RCV001461803]\|not provided [RCV000179449]	likely benign\|uncertain significance	11	47441168	47441168	Human	2	name
156411096	CV1966934	single nucleotide variant	NM_005055.5(RAPSN):c.441G>A (p.Glu147=)	Fetal akinesia deformation sequence 1 [RCV002608158]	likely benign	11	47447902	47447902	Human	2	name
156288508	CV1998007	single nucleotide variant	NM_005055.5(RAPSN):c.612C>T (p.Tyr204=)	Fetal akinesia deformation sequence 1 [RCV002647100]	likely benign	11	47442734	47442734	Human	2	name
156374423	CV2003881	single nucleotide variant	NM_005055.5(RAPSN):c.999G>A (p.Glu333=)	Fetal akinesia deformation sequence 1 [RCV002653173]	likely benign	11	47438899	47438899	Human	2	name
156272750	CV2018491	single nucleotide variant	NM_005055.5(RAPSN):c.375C>T (p.Val125=)	Fetal akinesia deformation sequence 1 [RCV002715038]	likely benign	11	47447968	47447968	Human	2	name
156281953	CV2051292	single nucleotide variant	NM_005055.5(RAPSN):c.510C>T (p.Gly170=)	Fetal akinesia deformation sequence 1 [RCV002832872]	likely benign	11	47447833	47447833	Human	2	name
156023210	CV2055649	single nucleotide variant	NM_005055.5(RAPSN):c.834G>A (p.Glu278=)	Fetal akinesia deformation sequence 1 [RCV002820714]	likely benign	11	47441689	47441689	Human	2	name
156172057	CV2075622	single nucleotide variant	NM_005055.5(RAPSN):c.924C>T (p.Ala308=)	Fetal akinesia deformation sequence 1 [RCV002851561]	likely benign	11	47441201	47441201	Human	2	name
156208453	CV2103177	single nucleotide variant	NM_005055.5(RAPSN):c.894C>T (p.Ala298=)	Fetal akinesia deformation sequence 1 [RCV002918067]	likely benign	11	47441629	47441629	Human	2	name
156240457	CV2105261	single nucleotide variant	NM_005055.5(RAPSN):c.345C>T (p.Thr115=)	Fetal akinesia deformation sequence 1 [RCV002933180]	likely benign	11	47447998	47447998	Human	2	name
156234531	CV2108691	single nucleotide variant	NM_005055.5(RAPSN):c.369C>T (p.Gly123=)	Fetal akinesia deformation sequence 1 [RCV002919064]	likely benign	11	47447974	47447974	Human	2	name
156314228	CV2120229	single nucleotide variant	NM_005055.5(RAPSN):c.360G>A (p.Gln120=)	Fetal akinesia deformation sequence 1 [RCV002962798]	likely benign	11	47447983	47447983	Human	2	name
156106444	CV2139925	single nucleotide variant	NM_005055.5(RAPSN):c.915T>C (p.Ala305=)	Fetal akinesia deformation sequence 1 [RCV003002413]	likely benign	11	47441210	47441210	Human	2	name
156156896	CV2150852	single nucleotide variant	NM_005055.5(RAPSN):c.79C>T (p.Gln27Ter)	Fetal akinesia deformation sequence 1 [RCV003023050]	pathogenic	11	47448886	47448886	Human	2	name
155916375	CV2156096	single nucleotide variant	NM_005055.5(RAPSN):c.825C>T (p.Ile275=)	Fetal akinesia deformation sequence 1 [RCV002991679]	likely benign	11	47441698	47441698	Human	2	name
156010331	CV2170413	single nucleotide variant	NM_005055.5(RAPSN):c.50A>C (p.Tyr17Ser)	Fetal akinesia deformation sequence 1 [RCV003017706]	uncertain significance	11	47448915	47448915	Human	2	name
8560267	CV23086	single nucleotide variant	NM_005055.5(RAPSN):c.41T>C (p.Leu14Pro)	Congenital myasthenic syndrome 11 [RCV000008513]\|Fetal akinesia deformation sequence 1 [RCV001851738]\|Fetal akinesia deformation sequence 2 [RCV003460439]\|not provided [RCV004719634]	pathogenic\|likely pathogenic	11	47448924	47448924	Human	4	name
329848510	CV2523189	deletion	NM_005055.5(RAPSN):c.123del (p.Arg42fs)	Congenital myasthenic syndrome 11 [RCV003224949]	pathogenic	11	47448842	47448842	Human	1	name
11546933	CV254196	single nucleotide variant	NM_005055.5(RAPSN):c.474C>T (p.Asp158=)	Congenital myasthenic syndrome 11 [RCV000404374]\|Congenital myasthenic syndrome [RCV001275248]\|Fetal akinesia deformation sequence 1 [RCV000355174]\|Fetal akinesia deformation sequence 1 [RCV001080568]\|not provided [RCV000726774]\|not specified [RCV000247109]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	11	47447869	47447869	Human	4	name
11637162	CV271286	single nucleotide variant	NM_005055.5(RAPSN):c.567G>A (p.Ala189=)	Fetal akinesia deformation sequence 1 [RCV001490921]\|not provided [RCV000280235]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	11	47442779	47442779	Human	2	name
11638549	CV272237	single nucleotide variant	NM_005055.5(RAPSN):c.903G>A (p.Ala301=)	Congenital myasthenic syndrome 11 [RCV001106554]\|Congenital myasthenic syndrome [RCV001274406]\|Fetal akinesia deformation sequence 1 [RCV001081237]\|Fetal akinesia deformation sequence 1 [RCV001106555]\|not provided [RCV000304526]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	11	47441620	47441620	Human	4	name
401948109	CV2833247	deletion	NM_005055.5(RAPSN):c.288del (p.Cys97fs)	Congenital myasthenic syndrome 11 [RCV005051316]\|Fetal akinesia deformation sequence 1 [RCV003779088]\|Fetal akinesia deformation sequence 2 [RCV003471786]	pathogenic\|likely pathogenic	11	47448055	47448055	Human	4	name
401948102	CV2833253	single nucleotide variant	NM_005055.5(RAPSN):c.86G>A (p.Trp29Ter)	Fetal akinesia deformation sequence 2 [RCV003471790]	likely pathogenic	11	47448879	47448879	Human	1	name
401948096	CV2833259	deletion	NM_005055.5(RAPSN):c.157del (p.His53fs)	Fetal akinesia deformation sequence 2 [RCV003471792]	likely pathogenic	11	47448808	47448808	Human	1	name
402492755	CV3082180	single nucleotide variant	NM_005055.5(RAPSN):c.996C>T (p.Ser332=)	Fetal akinesia deformation sequence 1 [RCV003787740]	likely benign	11	47438902	47438902	Human	2	name
405029644	CV3082580	single nucleotide variant	NM_005055.5(RAPSN):c.573G>A (p.Glu191=)	Fetal akinesia deformation sequence 1 [RCV003786031]	likely benign	11	47442773	47442773	Human	2	name
405005294	CV3082736	single nucleotide variant	NM_005055.5(RAPSN):c.379C>T (p.Leu127=)	Fetal akinesia deformation sequence 1 [RCV003783835]	likely benign	11	47447964	47447964	Human	2	name
404986886	CV3083608	single nucleotide variant	NM_005055.5(RAPSN):c.897G>A (p.Arg299=)	Fetal akinesia deformation sequence 1 [RCV003781959]	likely benign	11	47441626	47441626	Human	2	name
402515489	CV3087646	single nucleotide variant	NM_005055.5(RAPSN):c.471T>C (p.Asp157=)	Fetal akinesia deformation sequence 1 [RCV003789997]	likely benign	11	47447872	47447872	Human	2	name
405021623	CV3088109	single nucleotide variant	NM_005055.5(RAPSN):c.984G>A (p.Leu328=)	Fetal akinesia deformation sequence 1 [RCV003795669]	likely benign	11	47438914	47438914	Human	2	name
402508965	CV3088865	single nucleotide variant	NM_005055.5(RAPSN):c.411C>T (p.Ser137=)	Fetal akinesia deformation sequence 1 [RCV003780069]	likely benign	11	47447932	47447932	Human	2	name
402513045	CV3089406	single nucleotide variant	NM_005055.5(RAPSN):c.903G>T (p.Ala301=)	Fetal akinesia deformation sequence 1 [RCV003780439]	likely benign	11	47441620	47441620	Human	2	name
402500949	CV3089651	single nucleotide variant	NM_005055.5(RAPSN):c.664C>T (p.Leu222=)	Fetal akinesia deformation sequence 1 [RCV003788574]	likely benign	11	47442682	47442682	Human	2	name
404992325	CV3091391	single nucleotide variant	NM_005055.5(RAPSN):c.822C>T (p.Ser274=)	Fetal akinesia deformation sequence 1 [RCV003792866]	likely benign	11	47441701	47441701	Human	2	name
405012860	CV3093509	single nucleotide variant	NM_005055.5(RAPSN):c.784C>T (p.Leu262=)	Fetal akinesia deformation sequence 1 [RCV003784513]	likely benign	11	47441828	47441828	Human	2	name
405005756	CV3098479	single nucleotide variant	NM_005055.5(RAPSN):c.867G>A (p.Leu289=)	Fetal akinesia deformation sequence 1 [RCV003804410]	likely benign	11	47441656	47441656	Human	2	name
405001062	CV3099252	single nucleotide variant	NM_005055.5(RAPSN):c.864G>T (p.Ala288=)	Fetal akinesia deformation sequence 1 [RCV003793673]	likely benign	11	47441659	47441659	Human	2	name
405016474	CV3100652	single nucleotide variant	NM_005055.5(RAPSN):c.336G>A (p.Leu112=)	Fetal akinesia deformation sequence 1 [RCV003805400]	likely benign	11	47448007	47448007	Human	2	name
404977487	CV3102697	single nucleotide variant	NM_005055.5(RAPSN):c.709C>T (p.Leu237=)	Fetal akinesia deformation sequence 1 [RCV003790791]	likely benign	11	47441903	47441903	Human	2	name
405090877	CV3105115	single nucleotide variant	NM_005055.5(RAPSN):c.745C>T (p.Leu249=)	Fetal akinesia deformation sequence 1 [RCV003800998]	likely benign	11	47441867	47441867	Human	2	name
405176667	CV3105249	single nucleotide variant	NM_005055.5(RAPSN):c.868C>T (p.Leu290=)	Fetal akinesia deformation sequence 1 [RCV003803572]	likely benign	11	47441655	47441655	Human	2	name
405054961	CV3107843	single nucleotide variant	NM_005055.5(RAPSN):c.735G>A (p.Gln245=)	Fetal akinesia deformation sequence 1 [RCV003808588]	likely benign	11	47441877	47441877	Human	2	name
405010028	CV3109120	single nucleotide variant	NM_005055.5(RAPSN):c.354T>G (p.Gly118=)	Fetal akinesia deformation sequence 1 [RCV003804788]	likely benign	11	47447989	47447989	Human	2	name
405152207	CV3110161	single nucleotide variant	NM_005055.5(RAPSN):c.648T>C (p.Tyr216=)	Fetal akinesia deformation sequence 1 [RCV003817681]	likely benign	11	47442698	47442698	Human	2	name
405153743	CV3110244	single nucleotide variant	NM_005055.5(RAPSN):c.450G>A (p.Leu150=)	Fetal akinesia deformation sequence 1 [RCV003817765]	likely benign	11	47447893	47447893	Human	2	name
405156343	CV3110474	single nucleotide variant	NM_005055.5(RAPSN):c.639C>T (p.Ala213=)	Fetal akinesia deformation sequence 1 [RCV003817995]	likely benign	11	47442707	47442707	Human	2	name
405073804	CV3111474	single nucleotide variant	NM_005055.5(RAPSN):c.495G>A (p.Val165=)	Fetal akinesia deformation sequence 1 [RCV003809813]	likely benign	11	47447848	47447848	Human	2	name
405075470	CV3111666	single nucleotide variant	NM_005055.5(RAPSN):c.558C>G (p.Pro186=)	Fetal akinesia deformation sequence 1 [RCV003810006]	likely benign	11	47442788	47442788	Human	2	name
405042253	CV3112962	single nucleotide variant	NM_005055.5(RAPSN):c.522C>T (p.Ala174=)	Fetal akinesia deformation sequence 1 [RCV003807629]	likely benign	11	47447821	47447821	Human	2	name
405080771	CV3114837	deletion	NM_005055.5(RAPSN):c.280del (p.Glu94fs)	Fetal akinesia deformation sequence 1 [RCV003810400]	pathogenic	11	47448063	47448063	Human	2	name
11600626	CV314303	single nucleotide variant	NM_005055.5(RAPSN):c.429G>C (p.Leu143=)	Congenital myasthenic syndrome 11 [RCV000328229]\|Fetal akinesia deformation sequence 1 [RCV000275433]\|Fetal akinesia deformation sequence 1 [RCV005209502]	likely benign\|uncertain significance	11	47447914	47447914	Human	3	name
11616807	CV328008	single nucleotide variant	NM_005055.5(RAPSN):c.492C>T (p.Arg164=)	Congenital myasthenic syndrome 11 [RCV000405598]\|Congenital myasthenic syndrome [RCV001274414]\|Fetal akinesia deformation sequence 1 [RCV000297949]\|Fetal akinesia deformation sequence 1 [RCV000528123]\|RAPSN-related disorder [RCV004537719]\|not provided [RCV003133 ... (more) 218]	benign\|likely benign\|uncertain significance	11	47447851	47447851	Human	4	name , trait , alternate_id
597725305	CV3729974	duplication	NM_005055.5(RAPSN):c.186dup (p.Leu63fs)	Congenital myasthenic syndrome 11 [RCV005050231]	likely pathogenic	11	47448778	47448779	Human	1	name
597881526	CV3869141	single nucleotide variant	NM_005055.5(RAPSN):c.630C>T (p.Tyr210=)	Fetal akinesia deformation sequence 1 [RCV005217397]	likely benign	11	47442716	47442716	Human	2	name
598122247	CV3884290	single nucleotide variant	NM_005055.5(RAPSN):c.38G>A (p.Gly13Glu)	not specified [RCV005236980]	uncertain significance	11	47448927	47448927	Human		name
13213729	CV429242	single nucleotide variant	NM_005055.5(RAPSN):c.960G>A (p.Gly320=)	Fetal akinesia deformation sequence 1 [RCV000554854]\|RAPSN-related disorder [RCV004535611]\|not specified [RCV000500274]	benign\|likely benign	11	47441165	47441165	Human	2	name , trait , alternate_id
13476651	CV461192	single nucleotide variant	NM_005055.5(RAPSN):c.363C>T (p.Leu121=)	Congenital myasthenic syndrome 11 [RCV001108814]\|Fetal akinesia deformation sequence 1 [RCV000558762]\|Fetal akinesia deformation sequence 1 [RCV001106666]	benign\|likely benign	11	47447980	47447980	Human	3	name
13625254	CV526292	single nucleotide variant	NM_005055.5(RAPSN):c.756C>T (p.Phe252=)	Fetal akinesia deformation sequence 1 [RCV000653220]	likely benign	11	47441856	47441856	Human	2	name
13816517	CV564737	single nucleotide variant	NM_005055.5(RAPSN):c.59A>T (p.Asn20Ile)	Congenital myasthenic syndrome [RCV001275254]\|Fetal akinesia deformation sequence 1 [RCV000706416]\|not provided [RCV003141705]	uncertain significance	11	47448906	47448906	Human	3	name
14702308	CV640149	single nucleotide variant	NM_005055.5(RAPSN):c.43C>A (p.Gln15Lys)	Congenital myasthenic syndrome [RCV001825599]\|Fetal akinesia deformation sequence 1 [RCV000806884]	uncertain significance	11	47448922	47448922	Human	3	name
15125153	CV693055	single nucleotide variant	NM_005055.5(RAPSN):c.948C>T (p.Ala316=)	Congenital myasthenic syndrome [RCV001274404]\|Fetal akinesia deformation sequence 1 [RCV000874902]\|not provided [RCV005256702]	likely benign\|uncertain significance	11	47441177	47441177	Human	3	name
15132120	CV693056	single nucleotide variant	NM_005055.5(RAPSN):c.831C>T (p.Thr277=)	Congenital myasthenic syndrome 11 [RCV002478991]\|Congenital myasthenic syndrome [RCV001274408]\|Fetal akinesia deformation sequence 1 [RCV000876096]	likely benign\|uncertain significance	11	47441692	47441692	Human	4	name
15127522	CV693057	single nucleotide variant	NM_005055.5(RAPSN):c.717C>T (p.His239=)	Congenital myasthenic syndrome [RCV001274411]\|Fetal akinesia deformation sequence 1 [RCV000875325]	likely benign\|uncertain significance	11	47441895	47441895	Human	3	name
15140970	CV738013	single nucleotide variant	NM_005055.5(RAPSN):c.927C>T (p.Ile309=)	Fetal akinesia deformation sequence 1 [RCV000899411]	likely benign	11	47441198	47441198	Human	2	name
15129340	CV738014	single nucleotide variant	NM_005055.5(RAPSN):c.864G>A (p.Ala288=)	Congenital myasthenic syndrome [RCV001278483]\|Fetal akinesia deformation sequence 1 [RCV000897425]	likely benign	11	47441659	47441659	Human	3	name
15170157	CV738015	single nucleotide variant	NM_005055.5(RAPSN):c.549G>C (p.Leu183=)	Fetal akinesia deformation sequence 1 [RCV000905208]	likely benign	11	47442797	47442797	Human	2	name
15184717	CV738016	single nucleotide variant	NM_005055.5(RAPSN):c.429G>A (p.Leu143=)	Congenital myasthenic syndrome [RCV001274415]\|Fetal akinesia deformation sequence 1 [RCV000908341]	likely benign\|uncertain significance	11	47447914	47447914	Human	3	name
15203016	CV752698	single nucleotide variant	NM_005055.5(RAPSN):c.336G>T (p.Leu112=)	Fetal akinesia deformation sequence 1 [RCV000913674]	likely benign	11	47448007	47448007	Human	2	name
15184084	CV768480	single nucleotide variant	NM_005055.5(RAPSN):c.991C>T (p.Leu331=)	Fetal akinesia deformation sequence 1 [RCV001443166]	likely benign	11	47438907	47438907	Human	2	name
15129641	CV768481	single nucleotide variant	NM_005055.5(RAPSN):c.705C>T (p.Ile235=)	Fetal akinesia deformation sequence 1 [RCV000941918]	likely benign	11	47441907	47441907	Human	2	name
15126452	CV768482	single nucleotide variant	NM_005055.5(RAPSN):c.321G>A (p.Lys107=)	Fetal akinesia deformation sequence 1 [RCV001432835]	likely benign	11	47448022	47448022	Human	2	name
15104978	CV784020	single nucleotide variant	NM_005055.5(RAPSN):c.975G>A (p.Gln325=)	Congenital myasthenic syndrome [RCV001275244]\|Fetal akinesia deformation sequence 1 [RCV001401566]	likely benign	11	47438923	47438923	Human	3	name
15123036	CV784021	single nucleotide variant	NM_005055.5(RAPSN):c.846C>T (p.Arg282=)	Fetal akinesia deformation sequence 1 [RCV001500224]	likely benign	11	47441677	47441677	Human	2	name
15114478	CV784022	single nucleotide variant	NM_005055.5(RAPSN):c.669C>T (p.Gly223=)	Fetal akinesia deformation sequence 1 [RCV000978228]	likely benign	11	47442677	47442677	Human	2	name
15137322	CV784023	single nucleotide variant	NM_005055.5(RAPSN):c.357C>T (p.Ala119=)	Fetal akinesia deformation sequence 1 [RCV000982270]	likely benign	11	47447986	47447986	Human	2	name
21067175	CV791143	single nucleotide variant	NM_005055.5(RAPSN):c.61C>T (p.Gln21Ter)	Congenital myasthenic syndrome [RCV001836056]\|Fetal akinesia deformation sequence 1 [RCV000988562]\|Fetal akinesia deformation sequence 1 [RCV001225209]\|Fetal akinesia deformation sequence 2 [RCV003467548]	pathogenic\|likely pathogenic	11	47448904	47448904	Human	4	name
26913312	CV838554	single nucleotide variant	NM_005055.5(RAPSN):c.82G>T (p.Val28Leu)	Congenital myasthenic syndrome [RCV001836092]\|Fetal akinesia deformation sequence 1 [RCV001054151]	uncertain significance	11	47448883	47448883	Human	3	name
38473190	CV926267	single nucleotide variant	NM_005055.5(RAPSN):c.912G>A (p.Lys304=)	Fetal akinesia deformation sequence 1 [RCV001219113]	uncertain significance	11	47441611	47441611	Human	2	name
40905321	CV979005	single nucleotide variant	NM_005055.5(RAPSN):c.798C>T (p.Phe266=)	Congenital myasthenic syndrome [RCV001278486]\|Fetal akinesia deformation sequence 1 [RCV001443169]	likely benign\|uncertain significance	11	47441725	47441725	Human	3	name
126734242	CV1009735	single nucleotide variant	NM_005055.5(RAPSN):c.248T>A (p.Leu83Gln)	Congenital myasthenic syndrome [RCV001835542]\|Fetal akinesia deformation sequence 1 [RCV001313536]	uncertain significance	11	47448095	47448095	Human	3	name
127258745	CV1062376	single nucleotide variant	NM_005055.5(RAPSN):c.291C>A (p.Cys97Ter)	Congenital myasthenic syndrome 11 [RCV005050369]\|Congenital myasthenic syndrome [RCV001826172]\|Fetal akinesia deformation sequence 1 [RCV001387007]\|not provided [RCV001780357]	pathogenic	11	47448052	47448052	Human	4	name
127282664	CV1078273	single nucleotide variant	NM_005055.5(RAPSN):c.1182C>T (p.Asn394=)	Fetal akinesia deformation sequence 1 [RCV001411264]	likely benign	11	47438032	47438032	Human	2	name
127283511	CV1078274	single nucleotide variant	NM_005055.5(RAPSN):c.1131G>A (p.Leu377=)	Fetal akinesia deformation sequence 1 [RCV001411864]	likely benign	11	47438767	47438767	Human	2	name
127282649	CV1078275	single nucleotide variant	NM_005055.5(RAPSN):c.1086C>T (p.Tyr362=)	Fetal akinesia deformation sequence 1 [RCV001411252]	likely benign	11	47438812	47438812	Human	2	name
127280343	CV1099990	single nucleotide variant	NM_005055.5(RAPSN):c.1176G>A (p.Gln392=)	Fetal akinesia deformation sequence 1 [RCV001446390]	likely benign	11	47438038	47438038	Human	2	name
127235526	CV1099991	single nucleotide variant	NM_005055.5(RAPSN):c.1170C>T (p.Cys390=)	Fetal akinesia deformation sequence 1 [RCV001422288]	likely benign	11	47438044	47438044	Human	2	name
127267996	CV1099992	single nucleotide variant	NM_005055.5(RAPSN):c.1116G>A (p.Glu372=)	Fetal akinesia deformation sequence 1 [RCV001440665]	likely benign	11	47438782	47438782	Human	2	name
127283824	CV1099993	single nucleotide variant	NM_005055.5(RAPSN):c.1065C>T (p.Cys355=)	Fetal akinesia deformation sequence 1 [RCV001448777]	likely benign	11	47438833	47438833	Human	2	name
127251599	CV1099994	single nucleotide variant	NM_005055.5(RAPSN):c.1044C>T (p.His348=)	Fetal akinesia deformation sequence 1 [RCV001425637]	likely benign	11	47438854	47438854	Human	2	name
127289752	CV1121462	single nucleotide variant	NM_005055.5(RAPSN):c.1002C>T (p.Ser334=)	Fetal akinesia deformation sequence 1 [RCV001458194]	likely benign	11	47438896	47438896	Human	2	name
127332456	CV1142331	single nucleotide variant	NM_005055.5(RAPSN):c.1128G>A (p.Arg376=)	Fetal akinesia deformation sequence 1 [RCV001489496]	likely benign	11	47438770	47438770	Human	2	name
127335825	CV1142332	single nucleotide variant	NM_005055.5(RAPSN):c.1077G>T (p.Thr359=)	Fetal akinesia deformation sequence 1 [RCV001491739]	likely benign	11	47438821	47438821	Human	2	name
151757187	CV1340355	single nucleotide variant	NM_005055.5(RAPSN):c.173G>A (p.Arg58His)	Fetal akinesia deformation sequence 1 [RCV001913571]	uncertain significance	11	47448792	47448792	Human	2	name
151860360	CV1344185	single nucleotide variant	NM_005055.5(RAPSN):c.272G>C (p.Arg91Pro)	Fetal akinesia deformation sequence 1 [RCV002034290]	likely pathogenic	11	47448071	47448071	Human	2	name
8660488	CV135535	single nucleotide variant	NM_005055.5(RAPSN):c.1143T>C (p.Pro381=)	Congenital myasthenic syndrome 11 [RCV000292191]\|Congenital myasthenic syndrome [RCV001275242]\|Fetal akinesia deformation sequence 1 [RCV000347078]\|Fetal akinesia deformation sequence 1 [RCV001520680]\|Fetal akinesia deformation sequence 2 [RCV001537996]\|not provided [RCV004717977]\|not specified [RCV ... (more) 000118117]	benign\|likely benign\|conflicting interpretations of pathogenicity	11	47438755	47438755	Human	5	name
8660489	CV135536	single nucleotide variant	NM_005055.5(RAPSN):c.172C>T (p.Arg58Cys)	Congenital myasthenic syndrome 11 [RCV000390783]\|Congenital myasthenic syndrome [RCV001275252]\|Fetal akinesia deformation sequence 1 [RCV000311015]\|Fetal akinesia deformation sequence 1 [RCV001521377]\|Fetal akinesia deformation sequence 2 [RCV001538027]\|not provided [RCV004706537]\|not specified [RCV ... (more) 000118118]	benign\|likely benign\|conflicting interpretations of pathogenicity	11	47448793	47448793	Human	19	name
151856432	CV1363614	single nucleotide variant	NM_005055.5(RAPSN):c.211G>A (p.Asp71Asn)	Fetal akinesia deformation sequence 1 [RCV001904746]	uncertain significance	11	47448132	47448132	Human	2	name
151756146	CV1365604	single nucleotide variant	NM_005055.5(RAPSN):c.178A>C (p.Lys60Gln)	Congenital myasthenic syndrome 11 [RCV002506929]\|Fetal akinesia deformation sequence 1 [RCV001872735]\|Inborn genetic diseases [RCV003164216]\|not provided [RCV003134172]	uncertain significance	11	47448787	47448787	Human	4	name
151884601	CV1366830	deletion	NM_005055.5(RAPSN):c.297del (p.His100fs)	Fetal akinesia deformation sequence 1 [RCV001941764]	pathogenic	11	47448046	47448046	Human	2	name
151860792	CV1369218	single nucleotide variant	NM_005055.5(RAPSN):c.124C>T (p.Arg42Cys)	Fetal akinesia deformation sequence 1 [RCV002034336]	uncertain significance	11	47448841	47448841	Human	2	name
151789438	CV1370073	single nucleotide variant	NM_005055.5(RAPSN):c.233A>T (p.Asp78Val)	Fetal akinesia deformation sequence 1 [RCV001972904]	uncertain significance	11	47448110	47448110	Human	2	name
151837368	CV1383250	single nucleotide variant	NM_005055.5(RAPSN):c.238G>A (p.Asp80Asn)	Fetal akinesia deformation sequence 1 [RCV001935700]\|not provided [RCV003130601]	uncertain significance	11	47448105	47448105	Human	2	name
151731011	CV1421253	single nucleotide variant	NM_005055.5(RAPSN):c.272G>A (p.Arg91His)	Fetal akinesia deformation sequence 1 [RCV001892251]	likely pathogenic\|uncertain significance	11	47448071	47448071	Human	2	name
151815126	CV1444601	single nucleotide variant	NM_005055.5(RAPSN):c.290G>A (p.Cys97Tyr)	Fetal akinesia deformation sequence 1 [RCV001933592]\|not provided [RCV003130613]	uncertain significance	11	47448053	47448053	Human	2	name
151886432	CV1445233	indel	NM_005055.5(RAPSN):c.966+1_966+2delinsAG	Congenital myasthenic syndrome [RCV004782844]\|Fetal akinesia deformation sequence 1 [RCV002000681]\|Fetal akinesia deformation sequence 2 [RCV003464355]	pathogenic\|likely pathogenic	11	47441157	47441158	Human		name
151872687	CV1487914	single nucleotide variant	NM_005055.5(RAPSN):c.176A>G (p.Tyr59Cys)	Fetal akinesia deformation sequence 1 [RCV001981507]\|not provided [RCV003134285]	uncertain significance	11	47448789	47448789	Human	2	name
151715115	CV1492923	single nucleotide variant	NM_005055.5(RAPSN):c.157C>T (p.His53Tyr)	Fetal akinesia deformation sequence 1 [RCV001890176]	uncertain significance	11	47448808	47448808	Human	2	name
152059284	CV1540444	single nucleotide variant	NM_005055.5(RAPSN):c.1089C>T (p.Cys363=)	Fetal akinesia deformation sequence 1 [RCV002109913]	likely benign	11	47438809	47438809	Human	2	name
152162654	CV1608957	single nucleotide variant	NM_005055.5(RAPSN):c.1149C>T (p.Ser383=)	Fetal akinesia deformation sequence 1 [RCV002104093]	likely benign	11	47438749	47438749	Human	2	name
152049215	CV1615104	single nucleotide variant	NM_005055.5(RAPSN):c.1194C>T (p.Ser398=)	Fetal akinesia deformation sequence 1 [RCV002088932]	likely benign	11	47438020	47438020	Human	2	name
152075403	CV1616691	single nucleotide variant	NM_005055.5(RAPSN):c.1155C>T (p.Ile385=)	Fetal akinesia deformation sequence 1 [RCV002210525]	likely benign	11	47438743	47438743	Human	2	name
152060459	CV1659604	single nucleotide variant	NM_005055.5(RAPSN):c.1038G>A (p.Arg346=)	Fetal akinesia deformation sequence 1 [RCV002073612]	likely benign	11	47438860	47438860	Human	2	name
155266254	CV1699698	single nucleotide variant	NM_005055.5(RAPSN):c.280G>A (p.Glu94Lys)	Fetal akinesia deformation sequence 1 [RCV003101625]\|Fetal akinesia deformation sequence 2 [RCV003464433]\|RAPSN-related disorder [RCV003336519]\|not provided [RCV003134420]\|not specified [RCV002281800]	pathogenic\|likely pathogenic\|uncertain significance	11	47448063	47448063	Human	3	name , trait , alternate_id
156309674	CV1878092	deletion	NM_005055.5(RAPSN):c.358del (p.Gln120fs)	Fetal akinesia deformation sequence 1 [RCV003062377]	pathogenic	11	47447985	47447985	Human	2	name
156386348	CV1891862	single nucleotide variant	NM_005055.5(RAPSN):c.1171C>T (p.Leu391=)	Fetal akinesia deformation sequence 1 [RCV003067590]	likely benign	11	47438043	47438043	Human	2	name
156269797	CV1899334	single nucleotide variant	NM_005055.5(RAPSN):c.1077G>C (p.Thr359=)	Fetal akinesia deformation sequence 1 [RCV003086739]	likely benign	11	47438821	47438821	Human	2	name
156316940	CV1901289	single nucleotide variant	NM_005055.5(RAPSN):c.133G>T (p.Val45Leu)	Fetal akinesia deformation sequence 1 [RCV002579002]	likely pathogenic	11	47448832	47448832	Human	2	name
156211717	CV1902474	single nucleotide variant	NM_005055.5(RAPSN):c.115C>G (p.Leu39Val)	Fetal akinesia deformation sequence 1 [RCV003084623]	uncertain significance	11	47448850	47448850	Human	2	name
156213658	CV1914185	single nucleotide variant	NM_005055.5(RAPSN):c.1071G>A (p.Glu357=)	Fetal akinesia deformation sequence 1 [RCV002596166]	likely benign	11	47438827	47438827	Human	2	name
156186609	CV1919260	single nucleotide variant	NM_005055.5(RAPSN):c.251A>C (p.Glu84Ala)	Fetal akinesia deformation sequence 1 [RCV002595237]	uncertain significance	11	47448092	47448092	Human	2	name
156434721	CV1940172	single nucleotide variant	NM_005055.5(RAPSN):c.282G>C (p.Glu94Asp)	Fetal akinesia deformation sequence 1 [RCV003104587]	uncertain significance	11	47448061	47448061	Human	2	name
156307604	CV1976584	single nucleotide variant	NM_005055.5(RAPSN):c.1236A>G (p.Val412=)	Fetal akinesia deformation sequence 1 [RCV002578520]	likely benign	11	47437978	47437978	Human	2	name
156098153	CV1981091	single nucleotide variant	NM_005055.5(RAPSN):c.1140A>C (p.Leu380=)	Fetal akinesia deformation sequence 1 [RCV002622111]	likely benign	11	47438758	47438758	Human	2	name
155956995	CV2010495	single nucleotide variant	NM_005055.5(RAPSN):c.1017A>G (p.Lys339=)	Fetal akinesia deformation sequence 1 [RCV002686318]	likely benign	11	47438881	47438881	Human	2	name
156179320	CV2023260	single nucleotide variant	NM_005055.5(RAPSN):c.125G>A (p.Arg42His)	Fetal akinesia deformation sequence 1 [RCV002765567]	uncertain significance	11	47448840	47448840	Human	2	name
156165879	CV2090900	single nucleotide variant	NM_005055.5(RAPSN):c.115C>T (p.Leu39Phe)	Fetal akinesia deformation sequence 1 [RCV002872831]	uncertain significance	11	47448850	47448850	Human	2	name
156229650	CV2121979	single nucleotide variant	NM_005055.5(RAPSN):c.110C>T (p.Ser37Leu)	Fetal akinesia deformation sequence 1 [RCV002958459]	uncertain significance	11	47448855	47448855	Human	2	name
156030591	CV2135448	single nucleotide variant	NM_005055.5(RAPSN):c.1165A>C (p.Arg389=)	Fetal akinesia deformation sequence 1 [RCV002999124]	uncertain significance	11	47438733	47438733	Human	2	name
155987581	CV2137055	single nucleotide variant	NM_005055.5(RAPSN):c.1137C>T (p.Ala379=)	Fetal akinesia deformation sequence 1 [RCV002996407]	likely benign	11	47438761	47438761	Human	2	name
8560266	CV23085	single nucleotide variant	NM_005055.5(RAPSN):c.264C>A (p.Asn88Lys)	Congenital myasthenic syndrome 11 [RCV000170316]\|Congenital myasthenic syndrome 11 [RCV005049322]\|Congenital myasthenic syndrome 4C [RCV000008512]\|Congenital myasthenic syndrome [RCV000235028]\|Fetal akinesia deformation sequence 1 [RCV000286918]\|Fetal akinesia deformation sequence 1 [RCV000477955]\|F ... (more) etal akinesia deformation sequence 2 [RCV003466838]\|Inborn genetic diseases [RCV002512909]\|Myopathy [RCV000414829]\|RAPSN-related disorder [RCV004732539]\|not provided [RCV000224062]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	11	47448079	47448079	Human	9	name , trait , alternate_id
8560275	CV23094	single nucleotide variant	NM_005055.5(RAPSN):c.133G>A (p.Val45Met)	Congenital myasthenic syndrome 11 [RCV000008521]\|Congenital myasthenic syndrome 11 [RCV002476946]\|Congenital myasthenic syndrome [RCV001275253]\|Fetal akinesia deformation sequence 1 [RCV000704275]\|Fetal akinesia deformation sequence 2 [RCV003460442]\|not provided [RCV000992743]	pathogenic\|likely pathogenic	11	47448832	47448832	Human	5	name
11350887	CV236991	single nucleotide variant	NM_005055.5(RAPSN):c.241T>C (p.Phe81Leu)	Congenital myasthenic syndrome 11 [RCV000378082]\|Congenital myasthenic syndrome [RCV001833233]\|Fetal akinesia deformation sequence 1 [RCV000281223]\|Fetal akinesia deformation sequence 1 [RCV001082714]\|not provided [RCV000224573]\|not specified [RCV000249697]	benign\|likely benign	11	47448102	47448102	Human	4	name
243059708	CV2413683	single nucleotide variant	NM_005055.5(RAPSN):c.245T>C (p.Leu82Pro)	not provided [RCV003135206]	uncertain significance	11	47448098	47448098	Human		name
243059710	CV2413685	single nucleotide variant	NM_005055.5(RAPSN):c.169G>C (p.Gly57Arg)	not provided [RCV003135208]	uncertain significance	11	47448796	47448796	Human		name
11549945	CV254190	single nucleotide variant	NM_005055.5(RAPSN):c.1098C>T (p.Cys366=)	Fetal akinesia deformation sequence 1 [RCV000876411]\|not specified [RCV000251086]	likely benign	11	47438800	47438800	Human	2	name
11546362	CV254191	single nucleotide variant	NM_005055.5(RAPSN):c.1041G>A (p.Ala347=)	Congenital myasthenic syndrome 11 [RCV000344045]\|Congenital myasthenic syndrome [RCV001274401]\|Fetal akinesia deformation sequence 1 [RCV000402474]\|Fetal akinesia deformation sequence 1 [RCV001084322]\|Fetal akinesia deformation sequence 2 [RCV001578812]\|not provided [RCV000873776]\|not specified [RCV ... (more) 000246362]	benign\|likely benign\|uncertain significance	11	47438857	47438857	Human	5	name
11643848	CV269662	single nucleotide variant	NM_005055.5(RAPSN):c.1203C>T (p.Asn401=)	Congenital myasthenic syndrome [RCV001275239]\|Fetal akinesia deformation sequence 1 [RCV001082882]\|RAPSN-related disorder [RCV004535349]\|not provided [RCV000400669]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	11	47438011	47438011	Human	3	name , trait , alternate_id
11641634	CV271934	single nucleotide variant	NM_005055.5(RAPSN):c.206A>G (p.Gln69Arg)	not provided [RCV000358817]	uncertain significance	11	47448137	47448137	Human		name
408383492	CV2839530	single nucleotide variant	NM_005055.5(RAPSN):c.264C>G (p.Asn88Lys)	Congenital myasthenic syndrome 11 [RCV004759765]	pathogenic	11	47448079	47448079	Human	1	name
405007382	CV3082918	single nucleotide variant	NM_005055.5(RAPSN):c.1050G>A (p.Val350=)	Fetal akinesia deformation sequence 1 [RCV003784019]	likely benign	11	47438848	47438848	Human	2	name
405010537	CV3083350	single nucleotide variant	NM_005055.5(RAPSN):c.1189C>A (p.Arg397=)	Fetal akinesia deformation sequence 1 [RCV003784297]	likely benign	11	47438025	47438025	Human	2	name
404997193	CV3085446	single nucleotide variant	NM_005055.5(RAPSN):c.1164C>T (p.Leu388=)	Fetal akinesia deformation sequence 1 [RCV003782977]	likely benign	11	47438734	47438734	Human	2	name
402482002	CV3093318	single nucleotide variant	NM_005055.5(RAPSN):c.1074G>A (p.Glu358=)	Fetal akinesia deformation sequence 1 [RCV003786670]	likely benign	11	47438824	47438824	Human	2	name
405007466	CV3096181	single nucleotide variant	NM_005055.5(RAPSN):c.1138C>T (p.Leu380=)	Fetal akinesia deformation sequence 1 [RCV003794331]	likely benign	11	47438760	47438760	Human	2	name
405070627	CV3099814	single nucleotide variant	NM_005055.5(RAPSN):c.1185G>A (p.Gly395=)	Fetal akinesia deformation sequence 1 [RCV003799529]	likely benign	11	47438029	47438029	Human	2	name
405069361	CV3103592	single nucleotide variant	NM_005055.5(RAPSN):c.1218C>T (p.Ser406=)	Fetal akinesia deformation sequence 1 [RCV003799422]	likely benign	11	47437996	47437996	Human	2	name
405089850	CV3105015	single nucleotide variant	NM_005055.5(RAPSN):c.1020G>A (p.Gly340=)	Fetal akinesia deformation sequence 1 [RCV003800898]	likely benign	11	47438878	47438878	Human	2	name
405035993	CV3106195	single nucleotide variant	NM_005055.5(RAPSN):c.1047T>C (p.Val349=)	Fetal akinesia deformation sequence 1 [RCV003796886]	likely benign	11	47438851	47438851	Human	2	name
405074104	CV3111455	single nucleotide variant	NM_005055.5(RAPSN):c.177C>A (p.Tyr59Ter)	Fetal akinesia deformation sequence 1 [RCV003809794]	pathogenic	11	47448788	47448788	Human	2	name
405081048	CV3114859	single nucleotide variant	NM_005055.5(RAPSN):c.1050G>C (p.Val350=)	Fetal akinesia deformation sequence 1 [RCV003810422]	likely benign	11	47438848	47438848	Human	2	name
405871439	CV3399259	deletion	NM_005055.5(RAPSN):c.422del (p.Lys141fs)	Fetal akinesia deformation sequence 2 [RCV004574690]	likely pathogenic	11	47447921	47447921	Human	1	name
12850214	CV371479	single nucleotide variant	NM_005055.5(RAPSN):c.271C>T (p.Arg91Cys)	Congenital myasthenic syndrome 11 [RCV005049547]\|Congenital myasthenic syndrome [RCV001833532]\|Fetal akinesia deformation sequence 1 [RCV001861510]\|not provided [RCV000443235]	likely pathogenic	11	47448072	47448072	Human	4	name
597725278	CV3729972	duplication	NM_005055.5(RAPSN):c.430dup (p.Glu144fs)	Congenital myasthenic syndrome 11 [RCV005050228]	likely pathogenic	11	47447912	47447913	Human	1	name
597725296	CV3729973	deletion	NM_005055.5(RAPSN):c.346del (p.Arg116fs)	Congenital myasthenic syndrome 11 [RCV005050230]	likely pathogenic	11	47447997	47447997	Human	1	name
598123406	CV3884894	single nucleotide variant	NM_005055.5(RAPSN):c.218C>A (p.Ala73Asp)	not specified [RCV005238503]	uncertain significance	11	47448125	47448125	Human		name
598124598	CV3885280	deletion	NM_005055.5(RAPSN):c.960del (p.Asn321fs)	Congenital myasthenic syndrome [RCV005239857]	pathogenic	11	47441165	47441165	Human	1	name
13476532	CV461196	single nucleotide variant	NM_005055.5(RAPSN):c.175T>C (p.Tyr59His)	Fetal akinesia deformation sequence 1 [RCV000557904]	uncertain significance	11	47448790	47448790	Human	2	name
13474377	CV461704	single nucleotide variant	NM_005055.5(RAPSN):c.1119G>A (p.Lys373=)	Fetal akinesia deformation sequence 1 [RCV000544586]	likely benign	11	47438779	47438779	Human	2	name
13522184	CV488722	single nucleotide variant	NM_005055.5(RAPSN):c.272G>T (p.Arg91Leu)	Fetal akinesia deformation sequence 1 [RCV000855473]\|Fetal akinesia deformation sequence 1 [RCV001867917]\|Fetal akinesia deformation sequence 2 [RCV003465332]\|not provided [RCV000591406]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	11	47448071	47448071	Human	4	name
13812770	CV565864	single nucleotide variant	NM_005055.5(RAPSN):c.205C>G (p.Gln69Glu)	Fetal akinesia deformation sequence 1 [RCV000703914]	uncertain significance	11	47448138	47448138	Human	2	name
13809268	CV567327	single nucleotide variant	NM_005055.5(RAPSN):c.232G>A (p.Asp78Asn)	Fetal akinesia deformation sequence 1 [RCV000687682]\|not provided [RCV003129992]	uncertain significance	11	47448111	47448111	Human	2	name
13809462	CV567332	single nucleotide variant	NM_005055.5(RAPSN):c.196G>A (p.Ala66Thr)	Congenital myasthenic syndrome [RCV001829902]\|Fetal akinesia deformation sequence 1 [RCV000687777]\|Inborn genetic diseases [RCV004026274]\|not provided [RCV003133514]	uncertain significance	11	47448147	47448147	Human	4	name
14703746	CV640145	single nucleotide variant	NM_005055.5(RAPSN):c.221G>A (p.Arg74Gln)	Congenital myasthenic syndrome 11 [RCV005392421]\|Fetal akinesia deformation sequence 1 [RCV000807513]	uncertain significance	11	47448122	47448122	Human	3	name
14712321	CV640146	single nucleotide variant	NM_005055.5(RAPSN):c.220C>T (p.Arg74Trp)	Congenital myasthenic syndrome [RCV001825550]\|Fetal akinesia deformation sequence 1 [RCV000793761]	uncertain significance	11	47448123	47448123	Human	3	name
14732913	CV640147	single nucleotide variant	NM_005055.5(RAPSN):c.215C>T (p.Thr72Met)	Congenital myasthenic syndrome 11 [RCV002495080]\|Congenital myasthenic syndrome [RCV001275250]\|Fetal akinesia deformation sequence 1 [RCV000802065]\|not provided [RCV003133628]	uncertain significance	11	47448128	47448128	Human	4	name
14709223	CV640148	single nucleotide variant	NM_005055.5(RAPSN):c.161C>T (p.Ser54Leu)	Congenital myasthenic syndrome [RCV001825544]\|Fetal akinesia deformation sequence 1 [RCV000792822]	uncertain significance	11	47448804	47448804	Human	3	name
15139675	CV738012	single nucleotide variant	NM_005055.5(RAPSN):c.1077G>A (p.Thr359=)	Fetal akinesia deformation sequence 1 [RCV000899185]	likely benign	11	47438821	47438821	Human	2	name
15140048	CV784019	single nucleotide variant	NM_005055.5(RAPSN):c.1033C>T (p.Leu345=)	Fetal akinesia deformation sequence 1 [RCV000982749]	likely benign	11	47438865	47438865	Human	2	name
26891529	CV838548	single nucleotide variant	NM_005055.5(RAPSN):c.1092C>T (p.Gly364=)	Fetal akinesia deformation sequence 1 [RCV001046498]	likely benign\|uncertain significance	11	47438806	47438806	Human	2	name
28899723	CV868105	single nucleotide variant	NM_005055.5(RAPSN):c.1212C>T (p.Arg404=)	Congenital myasthenic syndrome 11 [RCV001103492]\|Fetal akinesia deformation sequence 1 [RCV001103491]\|Fetal akinesia deformation sequence 1 [RCV001414396]	likely benign\|uncertain significance	11	47438002	47438002	Human	3	name
28910019	CV868109	single nucleotide variant	NM_005055.5(RAPSN):c.202G>A (p.Val68Ile)	Congenital myasthenic syndrome 11 [RCV001108815]\|Congenital myasthenic syndrome [RCV001279262]\|Fetal akinesia deformation sequence 1 [RCV001108816]\|Fetal akinesia deformation sequence 1 [RCV002556126]\|Inborn genetic diseases [RCV004960459]\|not provided [RCV003132232]	uncertain significance	11	47448141	47448141	Human	5	name
28904513	CV868110	single nucleotide variant	NM_005055.5(RAPSN):c.140G>A (p.Gly47Asp)	Congenital myasthenic syndrome 11 [RCV001105614]\|Congenital myasthenic syndrome 11 [RCV005049771]\|Congenital myasthenic syndrome [RCV001279263]\|Fetal akinesia deformation sequence 1 [RCV001105615]\|Fetal akinesia deformation sequence 1 [RCV002558056]\|not provided [RCV003130156]	uncertain significance	11	47448825	47448825	Human	4	name
28904516	CV868111	single nucleotide variant	NM_005055.5(RAPSN):c.102G>C (p.Glu34Asp)	Congenital myasthenic syndrome 11 [RCV001105617]\|Fetal akinesia deformation sequence 1 [RCV001105616]	uncertain significance	11	47448863	47448863	Human	3	name
38473671	CV956530	single nucleotide variant	NM_005055.5(RAPSN):c.265C>G (p.Leu89Val)	Congenital myasthenic syndrome [RCV001836225]\|Fetal akinesia deformation sequence 1 [RCV001243891]\|not provided [RCV003132341]	uncertain significance	11	47448078	47448078	Human	3	name
40905316	CV979000	single nucleotide variant	NM_005055.5(RAPSN):c.1113C>T (p.Gly371=)	Congenital myasthenic syndrome [RCV001278479]\|Fetal akinesia deformation sequence 1 [RCV002537796]	uncertain significance	11	47438785	47438785	Human	3	name
40905317	CV979001	single nucleotide variant	NM_005055.5(RAPSN):c.1059C>T (p.His353=)	Congenital myasthenic syndrome [RCV001278480]\|Fetal akinesia deformation sequence 1 [RCV001488356]	likely benign\|uncertain significance	11	47438839	47438839	Human	3	name
40905969	CV979009	single nucleotide variant	NM_005055.5(RAPSN):c.130C>T (p.Arg44Cys)	Congenital myasthenic syndrome [RCV001279264]	uncertain significance	11	47448835	47448835	Human	1	name
126747002	CV1009733	single nucleotide variant	NM_005055.5(RAPSN):c.850G>A (p.Gly284Arg)	Fetal akinesia deformation sequence 1 [RCV001315283]	uncertain significance	11	47441673	47441673	Human	2	name
126768860	CV1009734	single nucleotide variant	NM_005055.5(RAPSN):c.316T>C (p.Cys106Arg)	Fetal akinesia deformation sequence 1 [RCV001321613]	uncertain significance	11	47448027	47448027	Human	2	name
126760682	CV1030294	single nucleotide variant	NM_005055.5(RAPSN):c.814G>A (p.Ala272Thr)	Congenital myasthenic syndrome [RCV001831063]\|Fetal akinesia deformation sequence 1 [RCV001340475]\|not provided [RCV003130479]	uncertain significance	11	47441709	47441709	Human	3	name
126745207	CV1030295	single nucleotide variant	NM_005055.5(RAPSN):c.613C>T (p.Arg205Trp)	Congenital myasthenic syndrome [RCV001831039]\|Fetal akinesia deformation sequence 1 [RCV001337181]	uncertain significance	11	47442733	47442733	Human	3	name
126746121	CV1030296	single nucleotide variant	NM_005055.5(RAPSN):c.325T>G (p.Cys109Gly)	Congenital myasthenic syndrome [RCV001836322]\|Fetal akinesia deformation sequence 1 [RCV001337285]	uncertain significance	11	47448018	47448018	Human	3	name
126919461	CV1047280	single nucleotide variant	NM_005055.5(RAPSN):c.317G>A (p.Cys106Tyr)	Congenital myasthenic syndrome [RCV001826114]\|Fetal akinesia deformation sequence 1 [RCV001373240]	uncertain significance	11	47448026	47448026	Human	3	name
127273604	CV1062373	single nucleotide variant	NM_005055.5(RAPSN):c.838G>T (p.Gly280Ter)	Fetal akinesia deformation sequence 1 [RCV001390845]	pathogenic	11	47441685	47441685	Human	2	name
127248898	CV1062374	single nucleotide variant	NM_005055.5(RAPSN):c.599G>A (p.Trp200Ter)	Fetal akinesia deformation sequence 1 [RCV001385002]\|Fetal akinesia deformation sequence 2 [RCV003463001]	pathogenic\|likely pathogenic	11	47442747	47442747	Human	3	name
127235778	CV1062375	single nucleotide variant	NM_005055.5(RAPSN):c.418C>T (p.Gln140Ter)	Fetal akinesia deformation sequence 1 [RCV001382472]\|Fetal akinesia deformation sequence 2 [RCV003469677]	pathogenic\|likely pathogenic	11	47447925	47447925	Human	3	name
243056130	CV1275205	single nucleotide variant	NM_005055.5(RAPSN):c.491G>A (p.Arg164His)	Congenital myasthenic syndrome 11 [RCV005050396]\|Fetal akinesia deformation sequence 2 [RCV003463061]\|not provided [RCV003132529]	likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	11	47447852	47447852	Human	2	name
150544800	CV1315250	single nucleotide variant	NM_005055.5(RAPSN):c.679G>T (p.Glu227Ter)	Congenital myasthenic syndrome 11 [RCV005050409]\|Fetal akinesia deformation sequence 1 [RCV001868867]\|not provided [RCV001783664]	pathogenic\|likely pathogenic	11	47442667	47442667	Human	3	name
151872879	CV1339788	single nucleotide variant	NM_005055.5(RAPSN):c.310T>G (p.Ser104Ala)	Fetal akinesia deformation sequence 1 [RCV002035901]	uncertain significance	11	47448033	47448033	Human	2	name
151777849	CV1342762	single nucleotide variant	NM_005055.5(RAPSN):c.621G>C (p.Met207Ile)	Fetal akinesia deformation sequence 1 [RCV001988855]	uncertain significance	11	47442725	47442725	Human	2	name
151761017	CV1343311	single nucleotide variant	NM_005055.5(RAPSN):c.832G>A (p.Glu278Lys)	Fetal akinesia deformation sequence 1 [RCV002024368]\|Inborn genetic diseases [RCV003365664]	uncertain significance	11	47441691	47441691	Human	3	name
151723435	CV1356776	single nucleotide variant	NM_005055.5(RAPSN):c.757G>A (p.Ala253Thr)	Congenital myasthenic syndrome 11 [RCV004819244]\|Fetal akinesia deformation sequence 1 [RCV001966289]	uncertain significance	11	47441855	47441855	Human	3	name
151772070	CV1366502	single nucleotide variant	NM_005055.5(RAPSN):c.318C>A (p.Cys106Ter)	Fetal akinesia deformation sequence 1 [RCV001929616]	pathogenic	11	47448025	47448025	Human	2	name
151802398	CV1369008	single nucleotide variant	NM_005055.5(RAPSN):c.725G>C (p.Arg242Pro)	Fetal akinesia deformation sequence 1 [RCV002028219]	uncertain significance	11	47441887	47441887	Human	2	name
151860898	CV1374134	single nucleotide variant	NM_005055.5(RAPSN):c.490C>G (p.Arg164Gly)	Congenital myasthenic syndrome [RCV004801090]\|Fetal akinesia deformation sequence 1 [RCV001938528]	pathogenic\|likely pathogenic	11	47447853	47447853	Human	3	name
151856638	CV1377349	single nucleotide variant	NM_005055.5(RAPSN):c.712C>T (p.Gln238Ter)	Fetal akinesia deformation sequence 1 [RCV001923478]\|Fetal akinesia deformation sequence 2 [RCV003464238]	pathogenic	11	47441900	47441900	Human	3	name
151740995	CV1386583	single nucleotide variant	NM_005055.5(RAPSN):c.479T>C (p.Met160Thr)	Fetal akinesia deformation sequence 1 [RCV001893269]\|Inborn genetic diseases [RCV003375411]\|not provided [RCV003130582]	uncertain significance	11	47447864	47447864	Human	3	name
151803170	CV1401330	single nucleotide variant	NM_005055.5(RAPSN):c.760G>A (p.Asp254Asn)	Fetal akinesia deformation sequence 1 [RCV001932497]	uncertain significance	11	47441852	47441852	Human	2	name
151808569	CV1423354	single nucleotide variant	NM_005055.5(RAPSN):c.566C>G (p.Ala189Gly)	Fetal akinesia deformation sequence 1 [RCV002012209]	uncertain significance	11	47442780	47442780	Human	2	name
151746086	CV1428253	single nucleotide variant	NM_005055.5(RAPSN):c.668G>A (p.Gly223Asp)	Fetal akinesia deformation sequence 1 [RCV001926976]	uncertain significance	11	47442678	47442678	Human	2	name
151870291	CV1436715	single nucleotide variant	NM_005055.5(RAPSN):c.872G>C (p.Gly291Ala)	Fetal akinesia deformation sequence 1 [RCV002018846]	likely pathogenic	11	47441651	47441651	Human	2	name
151797359	CV1446647	single nucleotide variant	NM_005055.5(RAPSN):c.837C>G (p.Ile279Met)	Fetal akinesia deformation sequence 1 [RCV002027768]	uncertain significance	11	47441686	47441686	Human	2	name
151849607	CV1453223	duplication	NM_005055.5(RAPSN):c.1070dup (p.Glu358fs)	Congenital myasthenic syndrome 11 [RCV005050420]\|Fetal akinesia deformation sequence 1 [RCV002032986]	likely pathogenic	11	47438827	47438828	Human	3	name
151754014	CV1467458	single nucleotide variant	NM_005055.5(RAPSN):c.574C>T (p.Leu192Phe)	Fetal akinesia deformation sequence 1 [RCV001948434]	uncertain significance	11	47442772	47442772	Human	2	name
151837358	CV1468057	deletion	NM_005055.5(RAPSN):c.1185del (p.Thr396fs)	Fetal akinesia deformation sequence 1 [RCV001956321]	pathogenic	11	47438029	47438029	Human	2	name
151802122	CV1483823	single nucleotide variant	NM_005055.5(RAPSN):c.537C>A (p.Tyr179Ter)	Fetal akinesia deformation sequence 1 [RCV001899155]	pathogenic	11	47442809	47442809	Human	2	name
151817556	CV1485852	single nucleotide variant	NM_005055.5(RAPSN):c.988T>C (p.Cys330Arg)	Fetal akinesia deformation sequence 1 [RCV002029570]	uncertain significance	11	47438910	47438910	Human	2	name
151875255	CV1486831	single nucleotide variant	NM_005055.5(RAPSN):c.650G>A (p.Arg217His)	Fetal akinesia deformation sequence 1 [RCV001906986]\|not provided [RCV003130594]	uncertain significance	11	47442696	47442696	Human	2	name
151855327	CV1506653	single nucleotide variant	NM_005055.5(RAPSN):c.538G>A (p.Glu180Lys)	Fetal akinesia deformation sequence 1 [RCV001937875]\|Fetal akinesia deformation sequence 2 [RCV002466711]	uncertain significance	11	47442808	47442808	Human	3	name
151757414	CV1509010	single nucleotide variant	NM_005055.5(RAPSN):c.845G>T (p.Arg282Leu)	Fetal akinesia deformation sequence 1 [RCV002023992]	uncertain significance	11	47441678	47441678	Human	2	name
151828844	CV1513988	single nucleotide variant	NM_005055.5(RAPSN):c.380T>C (p.Leu127Pro)	Fetal akinesia deformation sequence 1 [RCV001955476]	uncertain significance	11	47447963	47447963	Human	2	name
156375828	CV1868726	single nucleotide variant	NM_005055.5(RAPSN):c.600G>C (p.Trp200Cys)	Congenital myasthenic syndrome 11 [RCV004819249]\|Fetal akinesia deformation sequence 1 [RCV003066712]\|not provided [RCV003134601]	uncertain significance	11	47442746	47442746	Human	3	name
156408458	CV1870058	single nucleotide variant	NM_005055.5(RAPSN):c.595G>T (p.Gly199Cys)	Fetal akinesia deformation sequence 1 [RCV003071275]	uncertain significance	11	47442751	47442751	Human	2	name
156309660	CV1878091	single nucleotide variant	NM_005055.5(RAPSN):c.973C>T (p.Gln325Ter)	Fetal akinesia deformation sequence 1 [RCV003062376]	pathogenic	11	47438925	47438925	Human	2	name
156402179	CV1889290	single nucleotide variant	NM_005055.5(RAPSN):c.770G>A (p.Arg257Gln)	Fetal akinesia deformation sequence 1 [RCV003069261]	uncertain significance	11	47441842	47441842	Human	2	name
156193939	CV1893263	single nucleotide variant	NM_005055.5(RAPSN):c.680A>G (p.Glu227Gly)	Fetal akinesia deformation sequence 1 [RCV003090756]\|Inborn genetic diseases [RCV003083968]	uncertain significance	11	47442666	47442666	Human	3	name
10048723	CV194409	single nucleotide variant	NM_005055.5(RAPSN):c.737C>T (p.Ala246Val)	Congenital myasthenic syndrome 11 [RCV005049458]\|Fetal akinesia deformation sequence 1 [RCV001313406]\|Fetal akinesia deformation sequence 2 [RCV003462285]\|not provided [RCV000178236]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	11	47441875	47441875	Human	4	name
156351940	CV1985690	single nucleotide variant	NM_005055.5(RAPSN):c.844C>T (p.Arg282Cys)	Fetal akinesia deformation sequence 1 [RCV002632039]	uncertain significance	11	47441679	47441679	Human	2	name
156037866	CV1998862	single nucleotide variant	NM_005055.5(RAPSN):c.934G>A (p.Ala312Thr)	Fetal akinesia deformation sequence 1 [RCV002658919]	uncertain significance	11	47441191	47441191	Human	2	name
156108295	CV2008500	single nucleotide variant	NM_005055.5(RAPSN):c.671G>A (p.Ser224Asn)	Fetal akinesia deformation sequence 1 [RCV002695567]	uncertain significance	11	47442675	47442675	Human	2	name
156127292	CV2012498	single nucleotide variant	NM_005055.5(RAPSN):c.935C>T (p.Ala312Val)	Fetal akinesia deformation sequence 1 [RCV002696268]	uncertain significance	11	47441190	47441190	Human	2	name
156220420	CV2025015	single nucleotide variant	NM_005055.5(RAPSN):c.799C>T (p.Pro267Ser)	Fetal akinesia deformation sequence 1 [RCV002712122]	uncertain significance	11	47441724	47441724	Human	2	name
155949148	CV2036243	single nucleotide variant	NM_005055.5(RAPSN):c.997G>A (p.Glu333Lys)	Fetal akinesia deformation sequence 1 [RCV002775675]\|not provided [RCV003134496]	uncertain significance	11	47438901	47438901	Human	2	name
155917308	CV2091845	single nucleotide variant	NM_005055.5(RAPSN):c.784C>G (p.Leu262Val)	Fetal akinesia deformation sequence 1 [RCV002903162]	uncertain significance	11	47441828	47441828	Human	2	name
156189692	CV2098936	single nucleotide variant	NM_005055.5(RAPSN):c.902C>T (p.Ala301Val)	Fetal akinesia deformation sequence 1 [RCV002917407]\|Inborn genetic diseases [RCV004066072]\|RAPSN-related disorder [RCV004733538]\|not provided [RCV003134527]	uncertain significance	11	47441621	47441621	Human	3	name , trait , alternate_id
156022504	CV2105833	single nucleotide variant	NM_005055.5(RAPSN):c.724C>T (p.Arg242Trp)	Fetal akinesia deformation sequence 1 [RCV002923133]\|Fetal akinesia deformation sequence 2 [RCV003464639]	likely pathogenic\|uncertain significance	11	47441888	47441888	Human	3	name
156132091	CV2121642	single nucleotide variant	NM_005055.5(RAPSN):c.926T>G (p.Ile309Ser)	Fetal akinesia deformation sequence 1 [RCV002953917]\|Inborn genetic diseases [RCV003250637]	uncertain significance	11	47441199	47441199	Human	3	name
156027632	CV2131431	deletion	NM_005055.5(RAPSN):c.1168del (p.Cys390fs)	Fetal akinesia deformation sequence 1 [RCV002976462]	pathogenic	11	47438046	47438046	Human	2	name
156272130	CV2131637	single nucleotide variant	NM_005055.5(RAPSN):c.909C>G (p.Asp303Glu)	Fetal akinesia deformation sequence 1 [RCV002988858]\|not provided [RCV003134578]	uncertain significance	11	47441614	47441614	Human	2	name
156159348	CV2136677	single nucleotide variant	NM_005055.5(RAPSN):c.404G>A (p.Gly135Asp)	Fetal akinesia deformation sequence 1 [RCV003005003]	uncertain significance	11	47447939	47447939	Human	2	name
156162022	CV2147446	single nucleotide variant	NM_005055.5(RAPSN):c.724C>G (p.Arg242Gly)	Fetal akinesia deformation sequence 1 [RCV003023228]	uncertain significance	11	47441888	47441888	Human	2	name
155957491	CV2159229	single nucleotide variant	NM_005055.5(RAPSN):c.817A>C (p.Met273Leu)	Fetal akinesia deformation sequence 1 [RCV003015184]	uncertain significance	11	47441706	47441706	Human	2	name
156186192	CV2195643	single nucleotide variant	NM_005055.5(RAPSN):c.718G>A (p.Gly240Arg)	Inborn genetic diseases [RCV002665604]	uncertain significance	11	47441894	47441894	Human	1	name
156389972	CV2222899	single nucleotide variant	NM_005055.5(RAPSN):c.826A>G (p.Met276Val)	Inborn genetic diseases [RCV002724476]	uncertain significance	11	47441697	47441697	Human	1	name
156004267	CV2290136	single nucleotide variant	NM_005055.5(RAPSN):c.384C>G (p.Ser128Arg)	Inborn genetic diseases [RCV002883531]	uncertain significance	11	47447959	47447959	Human	1	name
8560270	CV23089	single nucleotide variant	NM_005055.5(RAPSN):c.807C>A (p.Tyr269Ter)	Congenital myasthenic syndrome 11 [RCV000008516]	pathogenic	11	47441716	47441716	Human	1	name
8560272	CV23091	single nucleotide variant	NM_005055.5(RAPSN):c.848T>C (p.Leu283Pro)	Congenital myasthenic syndrome 11 [RCV000008518]\|Fetal akinesia deformation sequence 1 [RCV001336781]\|Fetal akinesia deformation sequence 1 [RCV002512911]\|Fetal akinesia deformation sequence 2 [RCV003460441]\|Global developmental delay [RCV001255415]\|RAPSN-relate ... (more) d disorder [RCV001731282]\|not provided [RCV000178899]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	11	47441675	47441675	Human	6	name , trait , alternate_id
8560274	CV23093	single nucleotide variant	NM_005055.5(RAPSN):c.490C>T (p.Arg164Cys)	Congenital myasthenic syndrome 11 [RCV000008520]\|Congenital myasthenic syndrome 11 [RCV005049323]\|Fetal akinesia deformation sequence 1 [RCV001343279]\|Fetal akinesia deformation sequence 2 [RCV003466839]\|Myopathy [RCV000415079]	pathogenic\|likely pathogenic\|uncertain significance	11	47447853	47447853	Human	6	name
8560276	CV23095	single nucleotide variant	NM_005055.5(RAPSN):c.484G>A (p.Glu162Lys)	Congenital myasthenic syndrome 11 [RCV000008522]\|Congenital myasthenic syndrome 11 [RCV005049324]\|Fetal akinesia deformation sequence 1 [RCV001231489]\|Fetal akinesia deformation sequence 2 [RCV003460443]	pathogenic\|likely pathogenic	11	47447859	47447859	Human	4	name
8560278	CV23097	single nucleotide variant	NM_005055.5(RAPSN):c.416T>C (p.Phe139Ser)	Fetal akinesia deformation sequence 2 [RCV000008524]	pathogenic	11	47447927	47447927	Human	1	name
8560279	CV23098	single nucleotide variant	NM_005055.5(RAPSN):c.566C>T (p.Ala189Val)	Fetal akinesia deformation sequence 2 [RCV000008525]\|not specified [RCV004585992]	pathogenic\|uncertain significance	11	47442780	47442780	Human	1	name
156347764	CV2315437	single nucleotide variant	NM_005055.5(RAPSN):c.769C>G (p.Arg257Gly)	Inborn genetic diseases [RCV002939399]	uncertain significance	11	47441843	47441843	Human	1	name
243059706	CV2413680	single nucleotide variant	NM_005055.5(RAPSN):c.697A>G (p.Met233Val)	not provided [RCV003135204]	uncertain significance	11	47441915	47441915	Human		name
243051052	CV2413682	single nucleotide variant	NM_005055.5(RAPSN):c.473A>G (p.Asp158Gly)	not provided [RCV003130386]	uncertain significance	11	47447870	47447870	Human		name
243059709	CV2413684	single nucleotide variant	NM_005055.5(RAPSN):c.314A>G (p.Tyr105Cys)	not provided [RCV003135207]	uncertain significance	11	47448029	47448029	Human		name
11544340	CV254194	single nucleotide variant	NM_005055.5(RAPSN):c.614G>A (p.Arg205Gln)	Congenital myasthenic syndrome 11 [RCV000340125]\|Congenital myasthenic syndrome [RCV001275247]\|Fetal akinesia deformation sequence 1 [RCV000282798]\|Fetal akinesia deformation sequence 1 [RCV000535743]\|not provided [RCV001573313]\|not specified [RCV000243655]	benign\|likely benign	11	47442732	47442732	Human	4	name
329954344	CV2671314	single nucleotide variant	NM_005055.5(RAPSN):c.624C>G (p.Ser208Arg)	Fetal akinesia deformation sequence 2 [RCV003234946]\|not specified [RCV003331541]	likely pathogenic\|uncertain significance	11	47442722	47442722	Human	1	name
401882021	CV2784935	single nucleotide variant	NM_005055.5(RAPSN):c.680A>C (p.Glu227Ala)	Inborn genetic diseases [RCV003365132]	uncertain significance	11	47442666	47442666	Human	1	name
401894469	CV2788157	single nucleotide variant	NM_005055.5(RAPSN):c.634A>G (p.Met212Val)	Inborn genetic diseases [RCV003371548]	uncertain significance	11	47442712	47442712	Human	1	name
401923378	CV2803191	single nucleotide variant	NM_005055.5(RAPSN):c.395C>T (p.Ala132Val)	RAPSN-related disorder [RCV004527972]	uncertain significance	11	47447948	47447948	Human	1	name , trait , alternate_id
401948105	CV2833249	deletion	NM_005055.5(RAPSN):c.1207del (p.Arg403fs)	Fetal akinesia deformation sequence 2 [RCV003471788]	likely pathogenic	11	47438007	47438007	Human	1	name
401943880	CV2833252	duplication	NM_005055.5(RAPSN):c.1142dup (p.Cys382fs)	Fetal akinesia deformation sequence 2 [RCV003463452]	likely pathogenic	11	47438755	47438756	Human	1	name
405167442	CV3107223	single nucleotide variant	NM_005055.5(RAPSN):c.888G>A (p.Trp296Ter)	Fetal akinesia deformation sequence 1 [RCV003802714]	pathogenic	11	47441635	47441635	Human	2	name
405156371	CV3109312	single nucleotide variant	NM_005055.5(RAPSN):c.733C>T (p.Gln245Ter)	Fetal akinesia deformation sequence 1 [RCV003801835]\|Fetal akinesia deformation sequence 2 [RCV004573334]	pathogenic\|likely pathogenic	11	47441879	47441879	Human	3	name
405156574	CV3110495	single nucleotide variant	NM_005055.5(RAPSN):c.885C>A (p.Cys295Ter)	Fetal akinesia deformation sequence 1 [RCV003818016]	pathogenic	11	47441638	47441638	Human	2	name
11652296	CV314295	duplication	NM_005055.5(RAPSN):c.1010dup (p.Ser338fs)	RAPSN-related disorder [RCV000304231]	uncertain significance	11	47438887	47438888	Human		name , trait , alternate_id
11600775	CV314298	single nucleotide variant	NM_005055.5(RAPSN):c.781G>A (p.Asp261Asn)	Congenital myasthenic syndrome 11 [RCV000276500]\|Fetal akinesia deformation sequence 1 [RCV000370825]\|Fetal akinesia deformation sequence 1 [RCV002520726]\|not provided [RCV003488517]	uncertain significance	11	47441831	47441831	Human	3	name
405709577	CV3225655	single nucleotide variant	NM_005055.5(RAPSN):c.976C>T (p.Leu326Phe)	Congenital myasthenic syndrome 11 [RCV003990713]	uncertain significance	11	47438922	47438922	Human	1	name
11612639	CV326964	single nucleotide variant	NM_005055.5(RAPSN):c.821G>A (p.Ser274Asn)	Congenital myasthenic syndrome 11 [RCV000261059]\|Congenital myasthenic syndrome [RCV001274409]\|Fetal akinesia deformation sequence 1 [RCV000316244]\|Fetal akinesia deformation sequence 1 [RCV000525112]\|RAPSN-related disorder [RCV004537718]\|not provided [RCV001531 ... (more) 730]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	11	47441702	47441702	Human	4	name , trait , alternate_id
11619525	CV326967	single nucleotide variant	NM_005055.5(RAPSN):c.360G>T (p.Gln120His)	Congenital myasthenic syndrome 11 [RCV000378983]\|Congenital myasthenic syndrome [RCV001833443]\|Fetal akinesia deformation sequence 1 [RCV000326705]\|Fetal akinesia deformation sequence 1 [RCV000803868]\|Inborn genetic diseases [RCV002520727]\|not provided [RCV003488518]	uncertain significance	11	47447983	47447983	Human	5	name
11622343	CV328006	single nucleotide variant	NM_005055.5(RAPSN):c.928G>A (p.Glu310Lys)	Congenital myasthenic syndrome 11 [RCV000358965]\|Congenital myasthenic syndrome [RCV001833442]\|Fetal akinesia deformation sequence 1 [RCV000396758]\|Fetal akinesia deformation sequence 1 [RCV001223828]\|not provided [RCV003129828]	likely benign\|uncertain significance	11	47441197	47441197	Human	4	name
11620000	CV328007	single nucleotide variant	NM_005055.5(RAPSN):c.706G>A (p.Ala236Thr)	Congenital Myasthenic Syndrome, Recessive [RCV000386023]\|Fetal akinesia deformation sequence 1 [RCV000331606]\|Fetal akinesia deformation sequence 1 [RCV001859810]\|not provided [RCV003129829]	uncertain significance	11	47441906	47441906	Human	3	name
11613568	CV328017	single nucleotide variant	NM_005055.5(RAPSN):c.412G>A (p.Val138Ile)	Congenital myasthenic syndrome 11 [RCV000366609]\|Congenital myasthenic syndrome 11 [RCV002480112]\|Congenital myasthenic syndrome [RCV001276398]\|Fetal akinesia deformation sequence 1 [RCV000269370]\|Fetal akinesia deformation sequence 1 [RCV000810152]\|not provided [RCV004693040]	likely benign\|uncertain significance	11	47447931	47447931	Human	4	name
405853381	CV3392712	single nucleotide variant	NM_005055.5(RAPSN):c.533A>G (p.Asp178Gly)	not specified [RCV004526437]	uncertain significance	11	47442813	47442813	Human		name
405852228	CV3395781	single nucleotide variant	NM_005055.5(RAPSN):c.677T>A (p.Met226Lys)	Congenital myasthenic syndrome 11 [RCV004556121]	uncertain significance	11	47442669	47442669	Human	1	name
405852237	CV3395790	single nucleotide variant	NM_005055.5(RAPSN):c.803G>T (p.Arg268Met)	Fetal akinesia deformation sequence 2 [RCV004556130]	uncertain significance	11	47441720	47441720	Human	1	name
407500643	CV3472407	single nucleotide variant	NM_005055.5(RAPSN):c.715C>T (p.His239Tyr)	Inborn genetic diseases [RCV004669600]	uncertain significance	11	47441897	47441897	Human	1	name
407466663	CV3472408	single nucleotide variant	NM_005055.5(RAPSN):c.302A>G (p.Lys101Arg)	Inborn genetic diseases [RCV004660525]	uncertain significance	11	47448041	47448041	Human	1	name
597725267	CV3729971	single nucleotide variant	NM_005055.5(RAPSN):c.523C>T (p.Gln175Ter)	Congenital myasthenic syndrome 11 [RCV005050227]	likely pathogenic	11	47447820	47447820	Human	1	name
12849572	CV374138	single nucleotide variant	NM_005055.5(RAPSN):c.439G>A (p.Glu147Lys)	Fetal akinesia deformation sequence 1 [RCV002519529]\|Fetal akinesia deformation sequence 2 [RCV002466497]\|RAPSN-related disorder [RCV001731679]\|not provided [RCV000432123]	pathogenic\|likely pathogenic	11	47447904	47447904	Human	3	name , trait , alternate_id
597843087	CV3878410	single nucleotide variant	NM_005055.5(RAPSN):c.452G>A (p.Arg151His)	Fetal akinesia deformation sequence 1 [RCV005226900]	uncertain significance	11	47447891	47447891	Human	2	name
598125253	CV3883894	single nucleotide variant	NM_005055.5(RAPSN):c.809A>G (p.Asp270Gly)	not provided [RCV005236249]	uncertain significance	11	47441714	47441714	Human		name
617152850	CV4018441	single nucleotide variant	NM_005055.5(RAPSN):c.485A>G (p.Glu162Gly)	Congenital myasthenic syndrome [RCV005418701]	likely pathogenic	11	47447858	47447858	Human	1	name
13215103	CV429243	single nucleotide variant	NM_005055.5(RAPSN):c.635T>G (p.Met212Arg)	not specified [RCV000502091]	uncertain significance	11	47442711	47442711	Human		name
13504281	CV441428	single nucleotide variant	NM_005055.5(RAPSN):c.775C>T (p.Arg259Cys)	Congenital myasthenic syndrome [RCV001834667]\|Fetal akinesia deformation sequence 1 [RCV001851454]\|not specified [RCV000517478]	uncertain significance	11	47441837	47441837	Human	3	name
13475819	CV461171	single nucleotide variant	NM_005055.5(RAPSN):c.776G>A (p.Arg259His)	Congenital myasthenic syndrome [RCV001274410]\|Fetal akinesia deformation sequence 1 [RCV000553703]\|not provided [RCV001556490]	benign\|likely benign\|uncertain significance	11	47441836	47441836	Human	3	name
13473914	CV461173	single nucleotide variant	NM_005055.5(RAPSN):c.662G>A (p.Arg221His)	Congenital myasthenic syndrome [RCV001834812]\|Fetal akinesia deformation sequence 1 [RCV000541515]	uncertain significance	11	47442684	47442684	Human	3	name
13504095	CV461384	single nucleotide variant	NM_005055.5(RAPSN):c.640G>A (p.Val214Met)	Congenital myasthenic syndrome 11 [RCV001103571]\|Fetal akinesia deformation sequence 1 [RCV000548221]\|Fetal akinesia deformation sequence 1 [RCV001103570]\|RAPSN-related disorder [RCV004732944]	likely benign\|uncertain significance	11	47442706	47442706	Human	3	name , trait , alternate_id
13474056	CV461705	single nucleotide variant	NM_005055.5(RAPSN):c.853C>T (p.Gln285Ter)	Fetal akinesia deformation sequence 1 [RCV000542391]	pathogenic	11	47441670	47441670	Human	2	name
13472035	CV462027	single nucleotide variant	NM_005055.5(RAPSN):c.649C>T (p.Arg217Cys)	Congenital myasthenic syndrome 11 [RCV002497190]\|Congenital myasthenic syndrome [RCV001829599]\|Fetal akinesia deformation sequence 1 [RCV000529053]	uncertain significance	11	47442697	47442697	Human	4	name
13472858	CV462028	single nucleotide variant	NM_005055.5(RAPSN):c.370C>T (p.Gln124Ter)	Congenital myasthenic syndrome [RCV003114675]\|Fetal akinesia deformation sequence 1 [RCV000534807]\|Fetal akinesia deformation sequence 2 [RCV003470767]\|not provided [RCV004719872]	pathogenic\|likely pathogenic	11	47447973	47447973	Human	4	name
13625253	CV526260	single nucleotide variant	NM_005055.5(RAPSN):c.889G>A (p.Val297Met)	Congenital myasthenic syndrome 11 [RCV002507125]\|Congenital myasthenic syndrome [RCV001274407]\|Fetal akinesia deformation sequence 1 [RCV000653219]\|Inborn genetic diseases [RCV004659157]	uncertain significance	11	47441634	47441634	Human	5	name
13625299	CV526294	single nucleotide variant	NM_005055.5(RAPSN):c.445G>A (p.Ala149Thr)	Fetal akinesia deformation sequence 1 [RCV000653218]\|Inborn genetic diseases [RCV004025898]\|not provided [RCV003129972]	uncertain significance	11	47447898	47447898	Human	3	name
13704292	CV538423	single nucleotide variant	NM_005055.5(RAPSN):c.793G>A (p.Ala265Thr)	Fetal akinesia deformation sequence 1 [RCV000660649]\|not provided [RCV004692056]	uncertain significance	11	47441730	47441730	Human	2	name
13822278	CV564727	single nucleotide variant	NM_005055.5(RAPSN):c.919G>C (p.Asp307His)	Congenital myasthenic syndrome [RCV001825368]\|Fetal akinesia deformation sequence 1 [RCV000697083]	uncertain significance	11	47441206	47441206	Human	3	name
13806403	CV564728	single nucleotide variant	NM_005055.5(RAPSN):c.817A>T (p.Met273Leu)	Congenital myasthenic syndrome [RCV001830545]\|Fetal akinesia deformation sequence 1 [RCV000700559]\|Inborn genetic diseases [RCV002534383]	uncertain significance	11	47441706	47441706	Human	4	name
13821672	CV564734	single nucleotide variant	NM_005055.5(RAPSN):c.674C>T (p.Ala225Val)	Fetal akinesia deformation sequence 1 [RCV000696238]	uncertain significance	11	47442672	47442672	Human	2	name
13817742	CV570703	single nucleotide variant	NM_005055.5(RAPSN):c.725G>A (p.Arg242Gln)	Congenital myasthenic syndrome [RCV001830515]\|Fetal akinesia deformation sequence 1 [RCV000693236]	uncertain significance	11	47441887	47441887	Human	3	name
14742367	CV640138	single nucleotide variant	NM_005055.5(RAPSN):c.997G>T (p.Glu333Ter)	Congenital myasthenic syndrome 11 [RCV005049713]\|Congenital myasthenic syndrome [RCV001830818]\|Fetal akinesia deformation sequence 1 [RCV000822748]\|Fetal akinesia deformation sequence 2 [RCV003461280]	pathogenic	11	47438901	47438901	Human	5	name
14713826	CV640139	single nucleotide variant	NM_005055.5(RAPSN):c.838G>A (p.Gly280Arg)	Congenital myasthenic syndrome [RCV001825551]\|Fetal akinesia deformation sequence 1 [RCV000794222]\|Inborn genetic diseases [RCV004027476]	uncertain significance	11	47441685	47441685	Human	4	name
14726108	CV640140	single nucleotide variant	NM_005055.5(RAPSN):c.822C>A (p.Ser274Arg)	Congenital myasthenic syndrome [RCV001830787]\|Fetal akinesia deformation sequence 1 [RCV000815494]\|Inborn genetic diseases [RCV004958145]\|not provided [RCV003130071]	uncertain significance	11	47441701	47441701	Human	4	name
14706279	CV640141	single nucleotide variant	NM_005055.5(RAPSN):c.775C>G (p.Arg259Gly)	Congenital myasthenic syndrome [RCV001825540]\|Fetal akinesia deformation sequence 1 [RCV000791948]	uncertain significance	11	47441837	47441837	Human	3	name
14733381	CV640142	single nucleotide variant	NM_005055.5(RAPSN):c.667G>A (p.Gly223Ser)	Congenital myasthenic syndrome [RCV001830731]\|Fetal akinesia deformation sequence 1 [RCV000802269]\|not provided [RCV003133632]	uncertain significance	11	47442679	47442679	Human	3	name
14711504	CV640143	single nucleotide variant	NM_005055.5(RAPSN):c.568G>T (p.Ala190Ser)	Congenital myasthenic syndrome [RCV001825547]\|Fetal akinesia deformation sequence 1 [RCV000793499]	uncertain significance	11	47442778	47442778	Human	3	name
14978415	CV677435	single nucleotide variant	NM_005055.5(RAPSN):c.872G>A (p.Gly291Asp)	Congenital myasthenic syndrome 11 [RCV002470993]\|Fetal akinesia deformation sequence 1 [RCV000850590]\|Fetal akinesia deformation sequence 2 [RCV003467529]\|not provided [RCV003130080]	likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	11	47441651	47441651	Human	4	name
14978417	CV677436	single nucleotide variant	NM_005055.5(RAPSN):c.457G>A (p.Ala153Thr)	Congenital myasthenic syndrome 11 [RCV001105501]\|Fetal akinesia deformation sequence 1 [RCV000850591]\|Fetal akinesia deformation sequence 1 [RCV001105500]\|Fetal akinesia deformation sequence 2 [RCV003467530]\|not specified [RCV003330969]	likely pathogenic\|uncertain significance\|no classifications from unflagged records	11	47447886	47447886	Human	4	name
15040425	CV680101	single nucleotide variant	NM_005055.5(RAPSN):c.794C>T (p.Ala265Val)	Fetal akinesia deformation sequence 1 [RCV000855474]\|Fetal akinesia deformation sequence 2 [RCV005359606]	likely pathogenic\|uncertain significance	11	47441729	47441729	Human	4	name
26913714	CV838550	single nucleotide variant	NM_005055.5(RAPSN):c.997G>C (p.Glu333Gln)	Congenital myasthenic syndrome [RCV001275243]\|Fetal akinesia deformation sequence 1 [RCV001054429]\|not provided [RCV003132181]	likely benign\|uncertain significance	11	47438901	47438901	Human	3	name
26903114	CV838551	single nucleotide variant	NM_005055.5(RAPSN):c.949G>A (p.Glu317Lys)	Congenital myasthenic syndrome [RCV001274403]\|Fetal akinesia deformation sequence 1 [RCV001050364]\|Inborn genetic diseases [RCV004031561]	uncertain significance	11	47441176	47441176	Human	4	name
26922251	CV838552	single nucleotide variant	NM_005055.5(RAPSN):c.493G>A (p.Val165Met)	Congenital myasthenic syndrome 11 [RCV005049755]\|Congenital myasthenic syndrome [RCV001832551]\|Fetal akinesia deformation sequence 1 [RCV001061762]\|Fetal akinesia deformation sequence 2 [RCV003462591]\|not provided [RCV001508667]	pathogenic\|likely pathogenic	11	47447850	47447850	Human	5	name
26886424	CV838553	single nucleotide variant	NM_005055.5(RAPSN):c.425C>A (p.Ala142Asp)	Congenital myasthenic syndrome 11 [RCV005049757]\|Fetal akinesia deformation sequence 1 [RCV001066055]\|Fetal akinesia deformation sequence 2 [RCV003467832]\|not provided [RCV001559969]\|not specified [RCV001797818]	pathogenic\|likely pathogenic\|uncertain significance	11	47447918	47447918	Human	4	name
28904257	CV868107	single nucleotide variant	NM_005055.5(RAPSN):c.457G>T (p.Ala153Ser)	Congenital myasthenic syndrome 11 [RCV001105498]\|Fetal akinesia deformation sequence 1 [RCV001105499]\|Fetal akinesia deformation sequence 1 [RCV002558054]\|not provided [RCV003142048]	likely benign\|uncertain significance	11	47447886	47447886	Human	3	name
28906451	CV868108	single nucleotide variant	NM_005055.5(RAPSN):c.364G>A (p.Gly122Arg)	Congenital myasthenic syndrome 11 [RCV001106665]\|Congenital myasthenic syndrome 11 [RCV002505680]\|Congenital myasthenic syndrome [RCV001279260]\|Fetal akinesia deformation sequence 1 [RCV001106664]\|Fetal akinesia deformation sequence 1 [RCV002556089]\|Inborn genetic diseases [RCV002556090]\|not provide ... (more) d [RCV003490075]	likely benign\|uncertain significance	11	47447979	47447979	Human	5	name
38473156	CV926268	single nucleotide variant	NM_005055.5(RAPSN):c.661C>T (p.Arg221Cys)	Congenital myasthenic syndrome [RCV001833886]\|Fetal akinesia deformation sequence 1 [RCV001216911]	uncertain significance	11	47442685	47442685	Human	3	name
38473048	CV935592	single nucleotide variant	NM_005055.5(RAPSN):c.358C>T (p.Gln120Ter)	Fetal akinesia deformation sequence 1 [RCV001209146]	pathogenic	11	47447985	47447985	Human	2	name
38473528	CV947496	single nucleotide variant	NM_005055.5(RAPSN):c.731T>C (p.Leu244Pro)	Fetal akinesia deformation sequence 1 [RCV001235423]	uncertain significance	11	47441881	47441881	Human	2	name
38473446	CV947497	single nucleotide variant	NM_005055.5(RAPSN):c.475G>A (p.Ala159Thr)	Congenital myasthenic syndrome [RCV001828820]\|Fetal akinesia deformation sequence 1 [RCV001228173]\|not provided [RCV003132306]	uncertain significance	11	47447868	47447868	Human	3	name
38473602	CV956526	single nucleotide variant	NM_005055.5(RAPSN):c.863C>T (p.Ala288Val)	Congenital myasthenic syndrome [RCV001834085]\|Fetal akinesia deformation sequence 1 [RCV001239329]\|not provided [RCV003132324]	uncertain significance	11	47441660	47441660	Human	3	name
38473652	CV956527	single nucleotide variant	NM_005055.5(RAPSN):c.808G>A (p.Asp270Asn)	Congenital myasthenic syndrome [RCV001278485]\|Fetal akinesia deformation sequence 1 [RCV001243446]\|Inborn genetic diseases [RCV004034751]\|not provided [RCV005232209]	uncertain significance	11	47441715	47441715	Human	4	name
38473795	CV956528	single nucleotide variant	NM_005055.5(RAPSN):c.769C>T (p.Arg257Trp)	Congenital myasthenic syndrome [RCV001829985]\|Fetal akinesia deformation sequence 1 [RCV001246340]	uncertain significance	11	47441843	47441843	Human	3	name
38473720	CV956529	single nucleotide variant	NM_005055.5(RAPSN):c.451C>T (p.Arg151Cys)	Congenital myasthenic syndrome [RCV001830051]\|Fetal akinesia deformation sequence 1 [RCV001248742]\|not provided [RCV003132356]	uncertain significance	11	47447892	47447892	Human	3	name
40905318	CV979002	single nucleotide variant	NM_005055.5(RAPSN):c.996C>G (p.Ser332Arg)	Congenital myasthenic syndrome [RCV001278481]\|Fetal akinesia deformation sequence 1 [RCV002537797]	uncertain significance	11	47438902	47438902	Human	3	name
40905319	CV979003	single nucleotide variant	NM_005055.5(RAPSN):c.985C>T (p.His329Tyr)	Congenital myasthenic syndrome 11 [RCV002493480]\|Congenital myasthenic syndrome [RCV001278482]\|Inborn genetic diseases [RCV004035473]	uncertain significance	11	47438913	47438913	Human	3	name
40905320	CV979004	single nucleotide variant	NM_005055.5(RAPSN):c.847C>G (p.Leu283Val)	Congenital myasthenic syndrome 11 [RCV002493481]\|Congenital myasthenic syndrome [RCV001278484]\|not provided [RCV003130238]	uncertain significance	11	47441676	47441676	Human	2	name
40905966	CV979006	single nucleotide variant	NM_005055.5(RAPSN):c.682T>C (p.Cys228Arg)	Congenital myasthenic syndrome [RCV001279258]	uncertain significance	11	47442664	47442664	Human	1	name
40905967	CV979007	single nucleotide variant	NM_005055.5(RAPSN):c.605T>C (p.Leu202Pro)	Congenital myasthenic syndrome [RCV001279259]	uncertain significance	11	47442741	47442741	Human	1	name
126748437	CV994562	single nucleotide variant	NM_005055.5(RAPSN):c.581A>G (p.Asn194Ser)	Congenital myasthenic syndrome [RCV001830227]\|Fetal akinesia deformation sequence 1 [RCV001306435]\|not provided [RCV003490177]	uncertain significance	11	47442765	47442765	Human	3	name
126754479	CV994563	single nucleotide variant	NM_005055.5(RAPSN):c.563A>G (p.Lys188Arg)	Fetal akinesia deformation sequence 1 [RCV001298139]	uncertain significance	11	47442783	47442783	Human	2	name
126754838	CV994564	single nucleotide variant	NM_005055.5(RAPSN):c.328C>T (p.Leu110Phe)	Congenital myasthenic syndrome [RCV001836260]\|Fetal akinesia deformation sequence 1 [RCV001298218]	uncertain significance	11	47448015	47448015	Human	3	name
126759236	CV1009732	single nucleotide variant	NM_005055.5(RAPSN):c.1081C>G (p.Leu361Val)	Congenital myasthenic syndrome [RCV001835585]\|Fetal akinesia deformation sequence 1 [RCV001318006]	uncertain significance	11	47438817	47438817	Human	3	name
151757452	CV1340393	single nucleotide variant	NM_005055.5(RAPSN):c.1040C>G (p.Ala347Gly)	Fetal akinesia deformation sequence 1 [RCV001913600]	uncertain significance	11	47438858	47438858	Human	2	name
151845344	CV1346022	single nucleotide variant	NM_005055.5(RAPSN):c.1115A>G (p.Glu372Gly)	Fetal akinesia deformation sequence 1 [RCV001936632]\|not provided [RCV003130624]	uncertain significance	11	47438783	47438783	Human	2	name
151758992	CV1375604	single nucleotide variant	NM_005055.5(RAPSN):c.1102G>A (p.Glu368Lys)	Fetal akinesia deformation sequence 1 [RCV001969956]	uncertain significance	11	47438796	47438796	Human	2	name
151738729	CV1379239	single nucleotide variant	NM_005055.5(RAPSN):c.1216T>A (p.Ser406Thr)	Fetal akinesia deformation sequence 1 [RCV001911714]	uncertain significance	11	47437998	47437998	Human	2	name
151866257	CV1392898	single nucleotide variant	NM_005055.5(RAPSN):c.1207C>T (p.Arg403Cys)	Fetal akinesia deformation sequence 1 [RCV001939196]	uncertain significance	11	47438007	47438007	Human	2	name
151843629	CV1457631	single nucleotide variant	NM_005055.5(RAPSN):c.1090G>A (p.Gly364Ser)	Congenital myasthenic syndrome 11 [RCV002491963]\|Fetal akinesia deformation sequence 1 [RCV001936420]\|Inborn genetic diseases [RCV003355666]	uncertain significance	11	47438808	47438808	Human	4	name
155683252	CV1784691	single nucleotide variant	NM_005055.5(RAPSN):c.1045G>A (p.Val349Ile)	Fetal akinesia deformation sequence 2 [RCV002310615]	uncertain significance	11	47438853	47438853	Human	1	name
156372989	CV1878585	single nucleotide variant	NM_005055.5(RAPSN):c.1062G>C (p.Glu354Asp)	Fetal akinesia deformation sequence 1 [RCV003066459]	uncertain significance	11	47438836	47438836	Human	2	name
156035930	CV1890168	single nucleotide variant	NM_005055.5(RAPSN):c.1183G>T (p.Gly395Trp)	Fetal akinesia deformation sequence 1 [RCV003078314]	uncertain significance	11	47438031	47438031	Human	2	name
156359074	CV1891447	single nucleotide variant	NM_005055.5(RAPSN):c.1127G>T (p.Arg376Leu)	Fetal akinesia deformation sequence 1 [RCV003091576]	uncertain significance	11	47438771	47438771	Human	2	name
155946725	CV1921641	single nucleotide variant	NM_005055.5(RAPSN):c.1030G>A (p.Glu344Lys)	Fetal akinesia deformation sequence 1 [RCV002615983]	uncertain significance	11	47438868	47438868	Human	2	name
156029621	CV1923140	single nucleotide variant	NM_005055.5(RAPSN):c.1114G>A (p.Glu372Lys)	Fetal akinesia deformation sequence 1 [RCV002637102]	uncertain significance	11	47438784	47438784	Human	2	name
156329461	CV1969841	single nucleotide variant	NM_005055.5(RAPSN):c.1210C>T (p.Arg404Cys)	Fetal akinesia deformation sequence 1 [RCV002600712]\|not provided [RCV003491128]	uncertain significance	11	47438004	47438004	Human	2	name
156377006	CV2189092	single nucleotide variant	NM_005055.5(RAPSN):c.1152C>A (p.His384Gln)	Fetal akinesia deformation sequence 1 [RCV003050187]	uncertain significance	11	47438746	47438746	Human	2	name
243059707	CV2413681	single nucleotide variant	NM_005055.5(RAPSN):c.1183G>C (p.Gly395Arg)	not provided [RCV003135205]	uncertain significance	11	47438031	47438031	Human		name
401748739	CV2709439	single nucleotide variant	NM_005055.5(RAPSN):c.1025A>G (p.Gln342Arg)	Inborn genetic diseases [RCV003242584]	uncertain significance	11	47438873	47438873	Human	1	name
401948099	CV2833257	single nucleotide variant	NM_005055.5(RAPSN):c.1174C>T (p.Gln392Ter)	Fetal akinesia deformation sequence 2 [RCV003471791]	likely pathogenic	11	47438040	47438040	Human	1	name
11617792	CV326961	single nucleotide variant	NM_005055.5(RAPSN):c.1066G>A (p.Val356Met)	Congenital myasthenic syndrome 11 [RCV000404405]\|Congenital myasthenic syndrome 11 [RCV002487360]\|Congenital myasthenic syndrome [RCV001274400]\|Fetal akinesia deformation sequence 1 [RCV000307953]\|Fetal akinesia deformation sequence 1 [RCV000706275]\|Inborn genetic diseases [RCV003243062]\|not provide ... (more) d [RCV003488516]	uncertain significance	11	47438832	47438832	Human	5	name
405659398	CV3312194	single nucleotide variant	NM_005055.5(RAPSN):c.1037G>C (p.Arg346Pro)	Inborn genetic diseases [RCV004438514]	uncertain significance	11	47438861	47438861	Human	1	name
407475802	CV3494781	single nucleotide variant	NM_005055.5(RAPSN):c.1172T>C (p.Leu391Pro)	Congenital myasthenic syndrome 11 [RCV005051466]\|not specified [RCV004690682]	likely pathogenic\|uncertain significance	11	47438042	47438042	Human	1	name
597707917	CV3592903	single nucleotide variant	NM_005055.5(RAPSN):c.1040C>T (p.Ala347Val)	Inborn genetic diseases [RCV004957600]	uncertain significance	11	47438858	47438858	Human	1	name
598176540	CV4008146	single nucleotide variant	NM_005055.5(RAPSN):c.1052G>A (p.Arg351Lys)	Congenital myasthenic syndrome 11 [RCV005393662]	uncertain significance	11	47438846	47438846	Human	1	name
13475671	CV461377	single nucleotide variant	NM_005055.5(RAPSN):c.1181A>G (p.Asn394Ser)	Congenital myasthenic syndrome [RCV001829598]\|Fetal akinesia deformation sequence 1 [RCV000552477]\|not provided [RCV003133355]	uncertain significance	11	47438033	47438033	Human	3	name
13472656	CV461702	single nucleotide variant	NM_005055.5(RAPSN):c.1189C>T (p.Arg397Trp)	Congenital myasthenic syndrome [RCV001834811]\|Fetal akinesia deformation sequence 1 [RCV000533315]	likely benign\|uncertain significance	11	47438025	47438025	Human	3	name
13625250	CV526258	single nucleotide variant	NM_005055.5(RAPSN):c.1036C>T (p.Arg346Trp)	Congenital myasthenic syndrome [RCV001274402]\|Fetal akinesia deformation sequence 1 [RCV000653216]\|not provided [RCV003129970]	uncertain significance	11	47438862	47438862	Human	3	name
13625248	CV526259	single nucleotide variant	NM_005055.5(RAPSN):c.1028G>A (p.Arg343Gln)	Congenital myasthenic syndrome [RCV001829813]\|Fetal akinesia deformation sequence 1 [RCV000653214]	uncertain significance	11	47438870	47438870	Human	3	name
13625251	CV526291	single nucleotide variant	NM_005055.5(RAPSN):c.1126C>T (p.Arg376Trp)	Congenital myasthenic syndrome [RCV001835897]\|Fetal akinesia deformation sequence 1 [RCV000653217]\|not provided [RCV003129971]	uncertain significance	11	47438772	47438772	Human	3	name
13625249	CV526479	single nucleotide variant	NM_005055.5(RAPSN):c.1009C>T (p.Arg337Cys)	Congenital myasthenic syndrome [RCV001835896]\|Fetal akinesia deformation sequence 1 [RCV000653215]	uncertain significance	11	47438889	47438889	Human	3	name
13821478	CV564725	single nucleotide variant	NM_005055.5(RAPSN):c.1127G>A (p.Arg376Gln)	Congenital myasthenic syndrome [RCV001830527]\|Fetal akinesia deformation sequence 1 [RCV000695951]\|Inborn genetic diseases [RCV004026355]\|not provided [RCV003130006]	uncertain significance	11	47438771	47438771	Human	4	name
14728719	CV640135	single nucleotide variant	NM_005055.5(RAPSN):c.1180A>C (p.Asn394His)	Congenital myasthenic syndrome [RCV001275240]\|Fetal akinesia deformation sequence 1 [RCV000816665]	uncertain significance	11	47438034	47438034	Human	3	name
14735006	CV640136	single nucleotide variant	NM_005055.5(RAPSN):c.1148C>G (p.Ser383Cys)	Fetal akinesia deformation sequence 1 [RCV000819394]	uncertain significance	11	47438750	47438750	Human	2	name
14737971	CV640137	single nucleotide variant	NM_005055.5(RAPSN):c.1069G>C (p.Glu357Gln)	Fetal akinesia deformation sequence 1 [RCV000804302]	uncertain significance	11	47438829	47438829	Human	2	name
15177199	CV701788	single nucleotide variant	NM_005055.5(RAPSN):c.1190G>A (p.Arg397Gln)	Congenital myasthenic syndrome 11 [RCV001103494]\|Congenital myasthenic syndrome [RCV001274399]\|Fetal akinesia deformation sequence 1 [RCV000950989]\|Fetal akinesia deformation sequence 1 [RCV001103493]\|Inborn genetic diseases [RCV002546024]\|not provided [RCV001772173]	likely benign\|uncertain significance	11	47438024	47438024	Human	5	name
26923699	CV838549	single nucleotide variant	NM_005055.5(RAPSN):c.1010G>A (p.Arg337His)	Congenital myasthenic syndrome [RCV001833629]\|Fetal akinesia deformation sequence 1 [RCV001064461]\|Inborn genetic diseases [RCV004030537]	uncertain significance	11	47438888	47438888	Human	4	name
28904051	CV868106	single nucleotide variant	NM_005055.5(RAPSN):c.1099G>A (p.Gly367Ser)	Congenital myasthenic syndrome 11 [RCV001105410]\|Fetal akinesia deformation sequence 1 [RCV001105409]	uncertain significance	11	47438799	47438799	Human	3	name
38473194	CV926266	single nucleotide variant	NM_005055.5(RAPSN):c.1065C>A (p.Cys355Ter)	Fetal akinesia deformation sequence 1 [RCV001219154]	pathogenic	11	47438833	47438833	Human	2	name
38473849	CV956525	single nucleotide variant	NM_005055.5(RAPSN):c.1183G>A (p.Gly395Arg)	Congenital myasthenic syndrome [RCV001829932]\|Fetal akinesia deformation sequence 1 [RCV001244496]\|Inborn genetic diseases [RCV002568591]	uncertain significance	11	47438031	47438031	Human	4	name
40814259	CV966720	single nucleotide variant	NM_005055.5(RAPSN):c.1146C>A (p.Cys382Ter)	Hydrops fetalis [RCV001257394]	pathogenic	11	47438752	47438752	Human	2	name
40905314	CV978998	single nucleotide variant	NM_005055.5(RAPSN):c.1221G>A (p.Met407Ile)	Congenital myasthenic syndrome 11 [RCV002493479]\|Congenital myasthenic syndrome [RCV001278477]\|Inborn genetic diseases [RCV003294175]	uncertain significance	11	47437993	47437993	Human	3	name
40905315	CV978999	single nucleotide variant	NM_005055.5(RAPSN):c.1208G>A (p.Arg403His)	Congenital myasthenic syndrome [RCV001278478]	uncertain significance	11	47438006	47438006	Human	1	name
126743008	CV994561	single nucleotide variant	NM_005055.5(RAPSN):c.1076C>T (p.Thr359Met)	Congenital myasthenic syndrome [RCV001835482]\|Fetal akinesia deformation sequence 1 [RCV001305634]	uncertain significance	11	47438822	47438822	Human	3	name
150546561	CV1313801	deletion	NM_005055.5(RAPSN):c.547_548del (p.Leu183fs)	not provided [RCV001784901]	pathogenic	11	47442798	47442799	Human		name
150546564	CV1313802	deletion	NM_005055.5(RAPSN):c.300_319del (p.His100fs)	Fetal akinesia deformation sequence 1 [RCV002541162]\|Fetal akinesia deformation sequence 2 [RCV003464136]	pathogenic\|likely pathogenic	11	47448024	47448043	Human	3	name
151787488	CV1393660	duplication	NM_005055.5(RAPSN):c.546_547dup (p.Leu183fs)	Fetal akinesia deformation sequence 1 [RCV001972700]	pathogenic	11	47442798	47442799	Human	2	name
8560268	CV23087	duplication	NM_005055.5(RAPSN):c.549_553dup (p.Phe185fs)	Congenital myasthenic syndrome 11 [RCV000008514]\|Fetal akinesia deformation sequence 1 [RCV002512910]\|Fetal akinesia deformation sequence 2 [RCV004566695]\|RAPSN-related disorder [RCV004532313]	pathogenic\|likely pathogenic	11	47442792	47442793	Human	4	name , trait , alternate_id
405029210	CV3098227	duplication	NM_005055.5(RAPSN):c.652_655dup (p.Leu219fs)	Fetal akinesia deformation sequence 1 [RCV003806520]	pathogenic	11	47442690	47442691	Human	2	name
14737553	CV640144	microsatellite	NM_005055.5(RAPSN):c.468TGA[1] (p.Asp158del)	Congenital myasthenic syndrome [RCV001830802]\|Fetal akinesia deformation sequence 1 [RCV000820506]	uncertain significance	11	47447870	47447872	Human		name
401943882	CV2833254	insertion	NM_005055.5(RAPSN):c.737_738insA (p.Leu247fs)	Fetal akinesia deformation sequence 2 [RCV003463453]	likely pathogenic	11	47441874	47441875	Human	1	name
13784552	CV546445	duplication	NM_005055.5(RAPSN):c.670_672dup (p.Ser224dup)	Fetal akinesia deformation sequence 1 [RCV000670976]	uncertain significance	11	47442673	47442674	Human	2	name
26904628	CV838547	microsatellite	NM_005055.5(RAPSN):c.1116GAA[1] (p.Lys373del)	Congenital myasthenic syndrome 11 [RCV004556074]\|Congenital myasthenic syndrome 11 [RCV005049745]\|Fetal akinesia deformation sequence 1 [RCV001050927]\|Fetal akinesia deformation sequence 2 [RCV003467761]\|RAPSN-related disorder [RCV004536097]\|not provided [RCV002 ... (more) 259378]	pathogenic\|likely pathogenic	11	47438777	47438779	Human		name , trait , alternate_id
38473470	CV947498	inversion	NM_005055.5(RAPSN):c.456_457inv (p.Ala153Thr)	Fetal akinesia deformation sequence 1 [RCV001231749]	uncertain significance	11	47447886	47447887	Human		name
10044305	CV188076	microsatellite	NM_005055.5(RAPSN):c.1083_1084dup (p.Tyr362fs)	Congenital myasthenic syndrome 11 [RCV000170473]\|Congenital myasthenic syndrome 11 [RCV005049454]\|Congenital myasthenic syndrome [RCV001826868]\|not provided [RCV000478920]	pathogenic	11	47438813	47438814	Human		name
13705051	CV536399	deletion	NM_005055.5(RAPSN):c.1177_1178del (p.Asn393fs)	Congenital myasthenic syndrome 11 [RCV002280819]\|Congenital myasthenic syndrome 11 [RCV002485489]\|Congenital myasthenic syndrome [RCV001275241]\|Fetal akinesia deformation sequence 1 [RCV001861675]\|Fetal akinesia deformation sequence 2 [RCV002280820]\|not provided [RCV000657250]	pathogenic	11	47438036	47438037	Human	5	name
14693469	CV620404	deletion	NM_005055.5(RAPSN):c.1029_1045del (p.Glu344fs)	Fetal akinesia deformation sequence 1 [RCV001232917]\|Fetal akinesia deformation sequence 2 [RCV003461050]	pathogenic\|uncertain significance	11	47438853	47438869	Human	3	name
15116073	CV693058	indel	NM_005055.5(RAPSN):c.456_457delinsCT (p.Ala153Ser)	Fetal akinesia deformation sequence 1 [RCV000873260]	likely benign	11	47447886	47447887	Human		name
11633548	CV264555	indel	NM_005055.5(RAPSN):c.853_855delinsTAA (p.Gln285Ter)	not provided [RCV000348754]	pathogenic	11	47441668	47441670	Human		name
156205192	CV1878090	deletion	NM_005055.5(RAPSN):c.990_993del (p.His329_Cys330insTer)	Fetal akinesia deformation sequence 1 [RCV003058311]\|Fetal akinesia deformation sequence 2 [RCV003465922]	pathogenic	11	47438905	47438908	Human	3	name
12913042	CV421861	indel	NM_005055.5(RAPSN):c.149_153delinsAGATGGGCCGCTACAAGGAGATGG (p.Val50fs)	Congenital myasthenic syndrome [RCV002298624]\|Hydrops fetalis [RCV001257395]\|not provided [RCV000493313]	pathogenic	11	47448812	47448816	Human		name
156031670	CV2093557	insertion	NM_005055.5(RAPSN):c.424_425insTGTCTCCTCTATATAAATGCGTAGGGGTTTTAGTTAAATGTCCTTTGAAGTATACTTGAGGAGGGTGACGGGCGGTGTGTACGCGCTTCAGGGCCCTGTTCAACTAAGCACTCTACCCTGTTCAACTAAG (p.Ala142delinsValSerProLeuTyrLysCysValGlyValLeuValLysCysProLeuLysTyrThrTer)	Fetal akinesia deformation sequence 1 [RCV002885426]	pathogenic	11	47447918	47447919	Human	2	name

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