Nalcn Variant Search Result - Rat Genome Database

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Variants search result for Homo sapiens
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More than 1000 records found for search term Nalcn (Displaying 1000)
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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
155797832	CV1860513	single nucleotide variant	NM_052867.4(NALCN):c.-4C>T	NALCN-related disorder [RCV004534105]\|not provided [RCV002467155]	uncertain significance	13	101399130	101399130	Human	1	name , alternate_id
150489491	CV1208449	single nucleotide variant	NM_052867.4(NALCN):c.-16C>T	not provided [RCV001592310]	likely benign	13	101399142	101399142	Human		name
126734597	CV1000834	single nucleotide variant	NM_052867.4(NALCN):c.943-1G>C	not provided [RCV001311349]	likely pathogenic	13	101292095	101292095	Human		name
153304568	CV1687140	single nucleotide variant	NM_052867.4(NALCN):c.942+8G>A	NALCN-related disorder [RCV004534012]\|not provided [RCV002262428]	benign\|likely benign	13	101292216	101292216	Human	1	name , alternate_id
156402801	CV1908171	single nucleotide variant	NM_052867.4(NALCN):c.942+7C>T	not provided [RCV002585073]	likely benign	13	101292217	101292217	Human		name
156009930	CV2042785	single nucleotide variant	NM_052867.4(NALCN):c.645-5C>T	not provided [RCV002756627]	likely benign	13	101345425	101345425	Human		name
155906266	CV2048177	single nucleotide variant	NM_052867.4(NALCN):c.515+7G>T	not provided [RCV002771282]	likely benign	13	101376910	101376910	Human		name
156206630	CV2146991	single nucleotide variant	NM_052867.4(NALCN):c.515+1G>C	not provided [RCV003006523]	likely pathogenic	13	101376916	101376916	Human		name
11546518	CV254789	single nucleotide variant	NM_052867.4(NALCN):c.515+7G>A	not provided [RCV001576035]\|not specified [RCV000246565]	benign\|likely benign	13	101376910	101376910	Human		name
401855671	CV2753089	single nucleotide variant	NM_052867.4(NALCN):c.376-2A>G	Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 [RCV003338145]	likely pathogenic	13	101377058	101377058	Human	1	name
405120789	CV2888012	single nucleotide variant	NM_052867.4(NALCN):c.109-1G>T	not provided [RCV003559072]	likely pathogenic	13	101395366	101395366	Human		name
402483482	CV2940913	single nucleotide variant	NM_052867.4(NALCN):c.291+9T>C	not provided [RCV003659771]	likely benign	13	101395174	101395174	Human		name
405146801	CV2960008	single nucleotide variant	NM_052867.4(NALCN):c.644+9A>T	not provided [RCV003669757]	likely benign	13	101376691	101376691	Human		name
402515254	CV2991576	single nucleotide variant	NM_052867.4(NALCN):c.291+5G>A	not provided [RCV003689802]	uncertain significance	13	101395178	101395178	Human		name
402509913	CV3042465	single nucleotide variant	NM_052867.4(NALCN):c.644+9A>G	not provided [RCV003715600]	likely benign	13	101376691	101376691	Human		name
405134368	CV3051907	single nucleotide variant	NM_052867.4(NALCN):c.644+8T>G	not provided [RCV003725108]	likely benign	13	101376692	101376692	Human		name
407427114	CV3410451	single nucleotide variant	NM_052867.4(NALCN):c.515+6C>T	not specified [RCV004586098]	uncertain significance	13	101376911	101376911	Human		name
597911325	CV3745601	single nucleotide variant	NM_052867.4(NALCN):c.515+8C>T	not provided [RCV005073602]	likely benign	13	101376909	101376909	Human		name
597956730	CV3838296	single nucleotide variant	NM_052867.4(NALCN):c.942+7C>G	not provided [RCV005191671]	likely benign	13	101292217	101292217	Human		name
126743610	CV1017707	single nucleotide variant	NM_052867.4(NALCN):c.3162+3A>G	Congenital contractures of the limbs and face, hypotonia, and developmental delay [RCV001330241]	uncertain significance	13	101100781	101100781	Human	1	name
150423956	CV1184788	single nucleotide variant	NM_052867.4(NALCN):c.516-12T>C	not provided [RCV001556016]	benign\|likely benign	13	101376840	101376840	Human		name
150416815	CV1194743	single nucleotide variant	NM_052867.4(NALCN):c.4605-8C>T	not provided [RCV001568505]	likely benign	13	101062126	101062126	Human		name
150419581	CV1194744	single nucleotide variant	NM_052867.4(NALCN):c.4447-5C>T	not provided [RCV001569745]	likely benign	13	101065566	101065566	Human		name
150443487	CV1205138	single nucleotide variant	NM_052867.4(NALCN):c.2580-7C>T	NALCN-related disorder [RCV004536215]\|not provided [RCV001583981]	likely benign	13	101104957	101104957	Human	1	name , alternate_id
150481064	CV1209719	single nucleotide variant	NM_052867.4(NALCN):c.2758-7G>A	not provided [RCV001590416]	likely benign	13	101104433	101104433	Human		name
150508199	CV1213980	single nucleotide variant	NM_052867.4(NALCN):c.2193-9T>G	NALCN-related disorder [RCV004536233]\|not provided [RCV001596501]	likely benign	13	101111235	101111235	Human	1	name , alternate_id
150493184	CV1238619	single nucleotide variant	NM_052867.4(NALCN):c.800-92A>G	not provided [RCV001655163]	benign	13	101292458	101292458	Human		name
150441460	CV1246737	single nucleotide variant	NM_052867.4(NALCN):c.108+92A>T	not provided [RCV001666391]	benign	13	101398927	101398927	Human		name
150438173	CV1247135	single nucleotide variant	NM_052867.4(NALCN):c.-39-45G>A	not provided [RCV001665904]	benign	13	101399210	101399210	Human		name
150457456	CV1278628	single nucleotide variant	NM_052867.4(NALCN):c.375+84C>T	not provided [RCV001709243]	benign	13	101378486	101378486	Human		name
150483086	CV1280130	single nucleotide variant	NM_052867.4(NALCN):c.800-35G>A	Congenital contractures of the limbs and face, hypotonia, and developmental delay [RCV001779331]\|Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 [RCV001779330]\|not provided [RCV001715129]	benign	13	101292401	101292401	Human	2	name
150533470	CV1292782	single nucleotide variant	NM_052867.4(NALCN):c.4906-3C>A	Inborn genetic diseases [RCV002538734]\|not provided [RCV001754390]	uncertain significance	13	101058059	101058059	Human	1	name
150535236	CV1294142	single nucleotide variant	NM_052867.4(NALCN):c.2364+4A>T	Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 [RCV003225976]\|not provided [RCV001758160]	uncertain significance	13	101110615	101110615	Human	1	name
151354278	CV1329411	single nucleotide variant	NM_052867.4(NALCN):c.1764+6T>G	not provided [RCV003314696]\|not specified [RCV001817774]	uncertain significance	13	101191911	101191911	Human		name
155268082	CV1701568	deletion	NM_052867.4(NALCN):c.4447-2del	Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 [RCV002283795]	pathogenic	13	101065563	101065563	Human	1	name
155268773	CV1705600	single nucleotide variant	NM_052867.4(NALCN):c.2889+1G>A	not provided [RCV002286207]	likely pathogenic\|uncertain significance	13	101104294	101104294	Human		name
156403671	CV1886348	single nucleotide variant	NM_052867.4(NALCN):c.2757+5C>T	not provided [RCV003069523]	uncertain significance	13	101104525	101104525	Human		name
156447322	CV1945031	single nucleotide variant	NM_052867.4(NALCN):c.1047+5G>A	not provided [RCV003118849]	uncertain significance	13	101291985	101291985	Human		name
156415291	CV1962068	single nucleotide variant	NM_052867.4(NALCN):c.800-12C>T	not provided [RCV002589082]	likely benign	13	101292378	101292378	Human		name
156278105	CV1971231	single nucleotide variant	NM_052867.4(NALCN):c.4905+4T>C	not provided [RCV002598306]	uncertain significance	13	101059814	101059814	Human		name
156135062	CV1977222	single nucleotide variant	NM_052867.4(NALCN):c.3390+6C>T	not provided [RCV002593632]	likely benign	13	101089840	101089840	Human		name
156324688	CV1985074	single nucleotide variant	NM_052867.4(NALCN):c.375+11A>G	not provided [RCV002649479]	benign	13	101378559	101378559	Human		name
156102921	CV1992042	single nucleotide variant	NM_052867.4(NALCN):c.800-11T>C	not provided [RCV002622282]	uncertain significance	13	101292377	101292377	Human		name
156166972	CV1993344	single nucleotide variant	NM_052867.4(NALCN):c.3162+8G>A	not provided [RCV002642607]	likely benign	13	101100776	101100776	Human		name
156211833	CV1997141	single nucleotide variant	NM_052867.4(NALCN):c.3057+4T>C	not provided [RCV002666873]	uncertain significance	13	101103168	101103168	Human		name
156015340	CV2009111	single nucleotide variant	NM_052867.4(NALCN):c.3691-7G>A	not provided [RCV002690735]	likely benign	13	101082890	101082890	Human		name
156234489	CV2021455	single nucleotide variant	NM_052867.4(NALCN):c.375+18A>G	not provided [RCV002745433]	likely benign	13	101378552	101378552	Human		name
156204819	CV2034901	single nucleotide variant	NM_052867.4(NALCN):c.4103+8T>C	not provided [RCV002766377]	likely benign	13	101074506	101074506	Human		name
155903549	CV2037568	single nucleotide variant	NM_052867.4(NALCN):c.515+15A>G	not provided [RCV002771122]	likely benign	13	101376902	101376902	Human		name
156239764	CV2082053	single nucleotide variant	NM_052867.4(NALCN):c.3583+8A>G	not provided [RCV002876552]	likely benign	13	101083703	101083703	Human		name
156247599	CV2174379	single nucleotide variant	NM_052867.4(NALCN):c.5023+1G>A	not provided [RCV003043672]	uncertain significance	13	101057938	101057938	Human		name
156141069	CV2177884	single nucleotide variant	NM_052867.4(NALCN):c.1765-9A>G	not provided [RCV003040037]	likely benign	13	101176383	101176383	Human		name
156399291	CV2187717	single nucleotide variant	NM_052867.4(NALCN):c.2637-6T>C	not provided [RCV003052164]	likely benign	13	101104656	101104656	Human		name
155935750	CV2221818	single nucleotide variant	NM_052867.4(NALCN):c.2757+6G>A	Inborn genetic diseases [RCV002729433]\|not provided [RCV005099603]	uncertain significance	13	101104524	101104524	Human	1	name
11060059	CV226934	single nucleotide variant	NM_052867.4(NALCN):c.4197+1G>A	Inborn genetic diseases [RCV000210682]	pathogenic	13	101073583	101073583	Human	1	name
243054558	CV2410593	single nucleotide variant	NM_052867.4(NALCN):c.2294+3A>T	not provided [RCV003131682]	uncertain significance	13	101111122	101111122	Human		name
11545983	CV254782	single nucleotide variant	NM_052867.4(NALCN):c.2457-4C>G	NALCN-related disorder [RCV004739642]\|not provided [RCV000876663]	benign\|likely benign	13	101107613	101107613	Human	1	name , alternate_id
11545717	CV254785	single nucleotide variant	NM_052867.4(NALCN):c.2192+5C>T	Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 [RCV003224243]\|not provided [RCV000870999]\|not specified [RCV000245514]	benign\|likely benign	13	101124603	101124603	Human	1	name
11551934	CV254786	single nucleotide variant	NM_052867.4(NALCN):c.2118+9T>C	Congenital contractures of the limbs and face, hypotonia, and developmental delay [RCV001778869]\|Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 [RCV001778868]\|not provided [RCV002058381]\|not specified [RCV000253700]	benign	13	101143071	101143071	Human	2	name
401799268	CV2741847	single nucleotide variant	NM_052867.4(NALCN):c.3163-3T>A	not provided [RCV003323255]	uncertain significance	13	101095683	101095683	Human		name
401910132	CV2813984	single nucleotide variant	NM_052867.4(NALCN):c.2118+6A>T	not provided [RCV003398359]	likely benign	13	101143074	101143074	Human		name
402498558	CV2871876	single nucleotide variant	NM_052867.4(NALCN):c.3058-1G>T	not provided [RCV003545666]	likely pathogenic	13	101100889	101100889	Human		name
405154430	CV2949274	duplication	NM_052867.4(NALCN):c.4331-6dup	not provided [RCV003674150]	benign	13	101068038	101068039	Human		name
405120837	CV2953895	single nucleotide variant	NM_052867.4(NALCN):c.3057+1G>A	not provided [RCV003667431]	likely pathogenic	13	101103171	101103171	Human		name
405150013	CV2959649	single nucleotide variant	NM_052867.4(NALCN):c.4331-9T>C	not provided [RCV003673939]	likely benign	13	101068042	101068042	Human		name
405215100	CV2967783	single nucleotide variant	NM_052867.4(NALCN):c.108+19T>A	not provided [RCV003679917]	likely benign	13	101399000	101399000	Human		name
402478657	CV2980408	single nucleotide variant	NM_052867.4(NALCN):c.4331-7T>C	not provided [RCV003686357]	likely benign	13	101068040	101068040	Human		name
405136101	CV3052201	single nucleotide variant	NM_052867.4(NALCN):c.4905+6G>C	not provided [RCV003725250]	uncertain significance	13	101059812	101059812	Human		name
405091856	CV3054634	single nucleotide variant	NM_052867.4(NALCN):c.1267-3T>C	not provided [RCV003717875]	uncertain significance	13	101237925	101237925	Human		name
405029715	CV3073591	single nucleotide variant	NM_052867.4(NALCN):c.4605-6C>T	not provided [RCV003739000]	likely benign	13	101062124	101062124	Human		name
405114504	CV3115385	single nucleotide variant	NM_052867.4(NALCN):c.4447-4G>A	not provided [RCV003814067]	likely benign	13	101065565	101065565	Human		name
405192327	CV3118140	single nucleotide variant	NM_052867.4(NALCN):c.515+18A>G	Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 [RCV005003732]\|not provided [RCV003821050]	uncertain significance	13	101376899	101376899	Human	1	name
405164893	CV3149377	single nucleotide variant	NM_052867.4(NALCN):c.644+18C>A	not provided [RCV003841039]	likely benign	13	101376682	101376682	Human		name
405165730	CV3149443	single nucleotide variant	NM_052867.4(NALCN):c.1434+5T>C	NALCN-related disorder [RCV004542296]\|not provided [RCV003841105]	likely benign\|uncertain significance	13	101237750	101237750	Human	1	name , alternate_id
405161761	CV3153081	single nucleotide variant	NM_052867.4(NALCN):c.375+17T>A	not provided [RCV003840816]	likely benign	13	101378553	101378553	Human		name
405181288	CV3159499	single nucleotide variant	NM_052867.4(NALCN):c.3057+3A>G	not provided [RCV003858749]	uncertain significance	13	101103169	101103169	Human		name
405079109	CV3166674	single nucleotide variant	NM_052867.4(NALCN):c.3390+7G>A	not provided [RCV003851448]	benign	13	101089839	101089839	Human		name
405233013	CV3167961	single nucleotide variant	NM_052867.4(NALCN):c.291+17C>G	not provided [RCV003865629]	likely benign	13	101395166	101395166	Human		name
404990246	CV3176201	single nucleotide variant	NM_052867.4(NALCN):c.4755+3G>A	not provided [RCV003881526]	uncertain significance	13	101061965	101061965	Human		name
405249862	CV3180568	single nucleotide variant	NM_052867.4(NALCN):c.1839+6T>C	not provided [RCV003869845]	uncertain significance	13	101176294	101176294	Human		name
402506756	CV3181695	single nucleotide variant	NM_052867.4(NALCN):c.2119-7T>C	not provided [RCV003878529]	likely benign	13	101124688	101124688	Human		name
405778374	CV3324366	single nucleotide variant	NM_052867.4(NALCN):c.3162+5G>C	Inborn genetic diseases [RCV004471514]	uncertain significance	13	101100779	101100779	Human	1	name
407427651	CV3410787	single nucleotide variant	NM_052867.4(NALCN):c.3057+2T>G	Congenital contractures of the limbs and face, hypotonia, and developmental delay [RCV004586434]	likely pathogenic	13	101103170	101103170	Human	1	name
408373681	CV3502317	single nucleotide variant	NM_052867.4(NALCN):c.2757+4C>T	not provided [RCV004725904]	uncertain significance	13	101104526	101104526	Human		name
596921052	CV3534668	single nucleotide variant	NM_052867.4(NALCN):c.3163-1G>A	Congenital contractures of the limbs and face, hypotonia, and developmental delay [RCV004784225]	likely pathogenic	13	101095681	101095681	Human	1	name
596921315	CV3534892	single nucleotide variant	NM_052867.4(NALCN):c.3269+5G>T	not provided [RCV004784450]	uncertain significance	13	101095569	101095569	Human		name
596942587	CV3542637	single nucleotide variant	NM_052867.4(NALCN):c.3489+1G>T	not provided [RCV004798221]	likely pathogenic	13	101089662	101089662	Human		name
597838194	CV3740317	single nucleotide variant	NM_052867.4(NALCN):c.2636+9C>G	not provided [RCV005064345]	likely benign	13	101104885	101104885	Human		name
597830971	CV3743724	single nucleotide variant	NM_052867.4(NALCN):c.3162+4A>G	not provided [RCV005062541]	uncertain significance	13	101100780	101100780	Human		name
597971310	CV3750689	duplication	NM_052867.4(NALCN):c.2119-3dup	not provided [RCV005084433]	likely benign	13	101124683	101124684	Human		name
597964098	CV3754274	single nucleotide variant	NM_052867.4(NALCN):c.2364+3A>G	not provided [RCV005082381]	uncertain significance	13	101110616	101110616	Human		name
597882431	CV3784101	single nucleotide variant	NM_052867.4(NALCN):c.3955-2A>C	not provided [RCV005124389]	likely pathogenic	13	101074664	101074664	Human		name
597900413	CV3796391	single nucleotide variant	NM_052867.4(NALCN):c.1626+3A>G	not provided [RCV005152474]	uncertain significance	13	101229390	101229390	Human		name
597938363	CV3808233	single nucleotide variant	NM_052867.4(NALCN):c.942+16G>A	not provided [RCV005158421]	likely benign	13	101292208	101292208	Human		name
597860842	CV3813450	single nucleotide variant	NM_052867.4(NALCN):c.2580-4A>G	not provided [RCV005146712]	likely benign	13	101104954	101104954	Human		name
597976096	CV3829097	single nucleotide variant	NM_052867.4(NALCN):c.1840-3T>C	not provided [RCV005169546]	uncertain significance	13	101144899	101144899	Human		name
597974672	CV3831778	single nucleotide variant	NM_052867.4(NALCN):c.2456+6G>A	not provided [RCV005168717]	uncertain significance	13	101107692	101107692	Human		name
597964715	CV3848144	single nucleotide variant	NM_052867.4(NALCN):c.3955-6C>T	not provided [RCV005194023]	likely benign	13	101074668	101074668	Human		name
597871534	CV3849337	single nucleotide variant	NM_052867.4(NALCN):c.4756-4A>G	not provided [RCV005197518]	likely benign	13	101059971	101059971	Human		name
598123059	CV3890182	single nucleotide variant	NM_052867.4(NALCN):c.3390+4A>G	not provided [RCV005250701]	uncertain significance	13	101089842	101089842	Human		name
13509202	CV482035	single nucleotide variant	NM_052867.4(NALCN):c.4330+5G>A	not provided [RCV000579183]	likely pathogenic	13	101068690	101068690	Human		name
13532844	CV512042	single nucleotide variant	NM_052867.4(NALCN):c.4755+1G>T	Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 [RCV000763319]\|Inborn genetic diseases [RCV000624599]\|not provided [RCV001561737]	pathogenic\|likely pathogenic	13	101061967	101061967	Human	2	name
13532071	CV512043	single nucleotide variant	NM_052867.4(NALCN):c.4605-1G>C	Inborn genetic diseases [RCV000623887]	likely pathogenic	13	101062119	101062119	Human	1	name
13705485	CV536859	single nucleotide variant	NM_052867.4(NALCN):c.3490-2A>G	Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 [RCV005357875]\|not provided [RCV000658033]	pathogenic\|likely pathogenic	13	101083806	101083806	Human	1	name
14746942	CV672304	single nucleotide variant	NM_052867.4(NALCN):c.4103+2T>C	Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 [RCV000845220]	pathogenic	13	101074512	101074512	Human	1	name
15148207	CV695590	single nucleotide variant	NM_052867.4(NALCN):c.4103+4G>C	Inborn genetic diseases [RCV002536804]\|NALCN-related disorder [RCV004530888]\|not provided [RCV000878917]	likely benign\|conflicting interpretations of pathogenicity	13	101074510	101074510	Human	2	name , alternate_id
15114279	CV695591	single nucleotide variant	NM_052867.4(NALCN):c.3270-4G>A	not provided [RCV000872922]	benign\|likely benign	13	101089970	101089970	Human		name
15126224	CV695592	single nucleotide variant	NM_052867.4(NALCN):c.3270-5C>T	not provided [RCV000875087]	likely benign	13	101089971	101089971	Human		name
15135649	CV695593	single nucleotide variant	NM_052867.4(NALCN):c.1765-6T>G	not provided [RCV000876682]	likely benign\|conflicting interpretations of pathogenicity	13	101176380	101176380	Human		name
15159701	CV744776	single nucleotide variant	NM_052867.4(NALCN):c.3391-9T>C	not provided [RCV000902992]	likely benign	13	101089770	101089770	Human		name
15103668	CV760066	single nucleotide variant	NM_052867.4(NALCN):c.2579+8C>G	not provided [RCV000915208]	likely benign	13	101107479	101107479	Human		name
15108919	CV775872	single nucleotide variant	NM_052867.4(NALCN):c.3057+8A>T	NALCN-related disorder [RCV004543512]\|not provided [RCV000938243]	likely benign	13	101103164	101103164	Human	1	name , alternate_id
15194086	CV776137	single nucleotide variant	NM_052867.4(NALCN):c.3583+7A>C	not provided [RCV000933543]	likely benign	13	101083704	101083704	Human		name
15110333	CV787933	single nucleotide variant	NM_052867.4(NALCN):c.3766-5T>G	not provided [RCV000977416]	benign	13	101081651	101081651	Human		name
28876262	CV858748	single nucleotide variant	NM_052867.4(NALCN):c.2579+5G>A	Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 [RCV001090147]\|Inborn genetic diseases [RCV002555935]\|not provided [RCV002286810]	likely pathogenic\|uncertain significance	13	101107482	101107482	Human	2	name
28890116	CV903672	single nucleotide variant	NM_052867.4(NALCN):c.1434+1G>A	Abnormality of the nervous system [RCV001814276]\|Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 [RCV001169972]	pathogenic\|likely pathogenic	13	101237754	101237754	Human	3	name
40815482	CV970977	single nucleotide variant	NM_052867.4(NALCN):c.1764+1G>A	Congenital contractures of the limbs and face, hypotonia, and developmental delay [RCV001262913]	uncertain significance	13	101191916	101191916	Human	1	name
150331665	CV1172509	single nucleotide variant	NM_052867.4(NALCN):c.644+153G>A	not provided [RCV001538726]	benign	13	101376547	101376547	Human		name
150415170	CV1177686	single nucleotide variant	NM_052867.4(NALCN):c.3690+88G>T	not provided [RCV001548454]	likely benign	13	101083004	101083004	Human		name
150409039	CV1177687	single nucleotide variant	NM_052867.4(NALCN):c.3058-11A>G	not provided [RCV001546110]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	13	101100899	101100899	Human		name
150419016	CV1181086	single nucleotide variant	NM_052867.4(NALCN):c.3765+35T>A	not provided [RCV001550851]	likely benign	13	101082774	101082774	Human		name
150417665	CV1181087	single nucleotide variant	NM_052867.4(NALCN):c.3391-10C>T	not provided [RCV001550239]	likely benign	13	101089771	101089771	Human		name
150422202	CV1181091	single nucleotide variant	NM_052867.4(NALCN):c.800-147A>G	not provided [RCV001552416]	likely benign	13	101292513	101292513	Human		name
150424269	CV1184783	deletion	NM_052867.4(NALCN):c.4104-11del	not provided [RCV001556439]	benign\|likely benign	13	101073688	101073688	Human		name
150424827	CV1184784	single nucleotide variant	NM_052867.4(NALCN):c.3690+56C>T	not provided [RCV001557177]	likely benign	13	101083036	101083036	Human		name
150427060	CV1188012	duplication	NM_052867.4(NALCN):c.4104-19dup	Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 [RCV002501903]\|not provided [RCV001560419]\|not specified [RCV001732206]	benign\|likely benign	13	101073687	101073688	Human	1	name
150428391	CV1188017	single nucleotide variant	NM_052867.4(NALCN):c.2192+55G>A	not provided [RCV001562205]	likely benign	13	101124553	101124553	Human		name
150427655	CV1188018	single nucleotide variant	NM_052867.4(NALCN):c.2119-10T>C	not provided [RCV001561219]	benign\|likely benign	13	101124691	101124691	Human		name
150428019	CV1188020	single nucleotide variant	NM_052867.4(NALCN):c.799+285T>C	not provided [RCV001561702]	likely benign	13	101344981	101344981	Human		name
150406087	CV1191495	single nucleotide variant	NM_052867.4(NALCN):c.2119-13T>C	not provided [RCV001564579]	benign\|likely benign	13	101124694	101124694	Human		name
150413296	CV1191497	single nucleotide variant	NM_052867.4(NALCN):c.292-245T>A	not provided [RCV001567153]	likely benign	13	101378898	101378898	Human		name
150405357	CV1194747	single nucleotide variant	NM_052867.4(NALCN):c.3691-81T>C	not provided [RCV001571591]	likely benign	13	101082964	101082964	Human		name
150420088	CV1194749	single nucleotide variant	NM_052867.4(NALCN):c.1764+24A>G	not provided [RCV001569963]	likely benign	13	101191893	101191893	Human		name
150414131	CV1198453	single nucleotide variant	NM_052867.4(NALCN):c.1048-49A>G	not provided [RCV001574835]	likely benign	13	101284068	101284068	Human		name
150417792	CV1198454	single nucleotide variant	NM_052867.4(NALCN):c.1048-77A>T	not provided [RCV001576459]	likely benign	13	101284096	101284096	Human		name
150465814	CV1201140	single nucleotide variant	NM_052867.4(NALCN):c.4103+86T>C	not provided [RCV001587620]	likely benign	13	101074428	101074428	Human		name
150475416	CV1202240	single nucleotide variant	NM_052867.4(NALCN):c.4905+15C>T	not provided [RCV001589483]	benign\|likely benign	13	101059803	101059803	Human		name
150456822	CV1202544	single nucleotide variant	NM_052867.4(NALCN):c.3955-52G>C	not provided [RCV001586197]	likely benign	13	101074714	101074714	Human		name
150476670	CV1203074	single nucleotide variant	NM_052867.4(NALCN):c.2118+84G>C	not provided [RCV001589668]	likely benign	13	101142996	101142996	Human		name
150486276	CV1203272	single nucleotide variant	NM_052867.4(NALCN):c.2889+40T>A	not provided [RCV001591450]	likely benign	13	101104255	101104255	Human		name
150431532	CV1206381	single nucleotide variant	NM_052867.4(NALCN):c.3690+88G>A	not provided [RCV001581030]	likely benign	13	101083004	101083004	Human		name
150469177	CV1207529	single nucleotide variant	NM_052867.4(NALCN):c.376-263T>C	not provided [RCV001588218]	likely benign	13	101377319	101377319	Human		name
150480403	CV1208010	single nucleotide variant	NM_052867.4(NALCN):c.2192+90G>T	not provided [RCV001590287]	likely benign	13	101124518	101124518	Human		name
150499523	CV1209095	single nucleotide variant	NM_052867.4(NALCN):c.644+293G>C	not provided [RCV001594313]	likely benign	13	101376407	101376407	Human		name
150470321	CV1209296	single nucleotide variant	NM_052867.4(NALCN):c.2294+47G>T	not provided [RCV001588407]	likely benign	13	101111078	101111078	Human		name
150471511	CV1209562	single nucleotide variant	NM_052867.4(NALCN):c.1434+54A>T	not provided [RCV001588673]	likely benign	13	101237701	101237701	Human		name
150472930	CV1217261	single nucleotide variant	NM_052867.4(NALCN):c.799+163C>T	not provided [RCV001615556]	benign	13	101345103	101345103	Human		name
150473278	CV1217602	single nucleotide variant	NM_052867.4(NALCN):c.1840-25T>C	not provided [RCV001615613]	benign	13	101144921	101144921	Human		name
150467803	CV1220078	single nucleotide variant	NM_052867.4(NALCN):c.376-251A>T	not provided [RCV001614569]	benign	13	101377307	101377307	Human		name
150502965	CV1223349	single nucleotide variant	NM_052867.4(NALCN):c.800-239G>A	not provided [RCV001621284]	benign	13	101292605	101292605	Human		name
150503111	CV1223386	single nucleotide variant	NM_052867.4(NALCN):c.3163-90C>T	not provided [RCV001621321]	benign	13	101095770	101095770	Human		name
150483429	CV1223588	single nucleotide variant	NM_052867.4(NALCN):c.4197+56G>A	not provided [RCV001617302]	benign	13	101073528	101073528	Human		name
150491315	CV1225283	single nucleotide variant	NM_052867.4(NALCN):c.3269+47G>A	not provided [RCV001618798]	benign	13	101095527	101095527	Human		name
150493615	CV1225699	duplication	NM_052867.4(NALCN):c.2193-14dup	not provided [RCV001619215]	benign	13	101111231	101111232	Human		name
150506131	CV1226271	deletion	NM_052867.4(NALCN):c.292-246del	not provided [RCV001635639]	benign	13	101378899	101378899	Human		name
150513942	CV1227977	duplication	NM_052867.4(NALCN):c.1764+13dup	not provided [RCV001638255]	benign	13	101191895	101191896	Human		name
150450151	CV1232643	single nucleotide variant	NM_052867.4(NALCN):c.1434+66T>C	not provided [RCV001647718]	benign	13	101237689	101237689	Human		name
150435877	CV1233975	single nucleotide variant	NM_052867.4(NALCN):c.1839+32A>G	not provided [RCV001644102]	benign	13	101176268	101176268	Human		name
150478628	CV1238938	single nucleotide variant	NM_052867.4(NALCN):c.799+261A>G	not provided [RCV001652403]	benign	13	101345005	101345005	Human		name
150504770	CV1240820	single nucleotide variant	NM_052867.4(NALCN):c.1627-74A>G	not provided [RCV001657663]	benign	13	101192128	101192128	Human		name
150430682	CV1243429	single nucleotide variant	NM_052867.4(NALCN):c.4104-34T>C	not provided [RCV001663047]	benign	13	101073711	101073711	Human		name
150481994	CV1244200	single nucleotide variant	NM_052867.4(NALCN):c.3269+33T>C	not provided [RCV001653046]	benign	13	101095541	101095541	Human		name
150441901	CV1246808	single nucleotide variant	NM_052867.4(NALCN):c.2365-84T>C	not provided [RCV001666462]	benign	13	101107873	101107873	Human		name
150444057	CV1249362	single nucleotide variant	NM_052867.4(NALCN):c.1134+22A>G	not provided [RCV001666794]	benign	13	101283911	101283911	Human		name
150505997	CV1254760	single nucleotide variant	NM_052867.4(NALCN):c.108+280T>C	not provided [RCV001678065]	benign	13	101398739	101398739	Human		name
150507500	CV1256949	single nucleotide variant	NM_052867.4(NALCN):c.644+291A>G	not provided [RCV001678452]	benign	13	101376409	101376409	Human		name
150493465	CV1257560	single nucleotide variant	NM_052867.4(NALCN):c.375+159G>A	not provided [RCV001675233]	benign	13	101378411	101378411	Human		name
150503208	CV1257740	single nucleotide variant	NM_052867.4(NALCN):c.376-237C>T	not provided [RCV001677428]	benign	13	101377293	101377293	Human		name
150438620	CV1264849	single nucleotide variant	NM_052867.4(NALCN):c.1135-11C>T	not provided [RCV001678842]	benign	13	101258585	101258585	Human		name
150453845	CV1265914	single nucleotide variant	NM_052867.4(NALCN):c.3057+43C>A	not provided [RCV001692491]	benign	13	101103129	101103129	Human		name
150444562	CV1266549	single nucleotide variant	NM_052867.4(NALCN):c.376-221T>C	not provided [RCV001690986]	benign	13	101377277	101377277	Human		name
150498435	CV1271510	single nucleotide variant	NM_052867.4(NALCN):c.800-299A>G	not provided [RCV001689200]	benign	13	101292665	101292665	Human		name
150484742	CV1273981	single nucleotide variant	NM_052867.4(NALCN):c.2637-35C>A	not provided [RCV001698561]	benign	13	101104685	101104685	Human		name
150464683	CV1276451	single nucleotide variant	NM_052867.4(NALCN):c.799+219G>A	not provided [RCV001710397]	benign	13	101345047	101345047	Human		name
150443600	CV1277880	single nucleotide variant	NM_052867.4(NALCN):c.2118+58G>T	not provided [RCV001707023]	benign	13	101143022	101143022	Human		name
150475886	CV1279148	single nucleotide variant	NM_052867.4(NALCN):c.109-113C>T	not provided [RCV001713905]	benign	13	101395478	101395478	Human		name
150531123	CV1290730	single nucleotide variant	NM_052867.4(NALCN):c.4906-11C>A	not provided [RCV001732903]	likely benign	13	101058067	101058067	Human		name
150539157	CV1300104	single nucleotide variant	NM_052867.4(NALCN):c.1977-11C>T	not provided [RCV001765574]	uncertain significance	13	101143232	101143232	Human		name
151235128	CV1318388	single nucleotide variant	NM_052867.4(NALCN):c.4906-10T>G	not provided [RCV001794711]	conflicting interpretations of pathogenicity\|uncertain significance	13	101058066	101058066	Human		name
152035432	CV1670145	single nucleotide variant	NM_052867.4(NALCN):c.4198-62G>A	not provided [RCV002223679]	uncertain significance	13	101068889	101068889	Human		name
156437166	CV1936995	single nucleotide variant	NM_052867.4(NALCN):c.4905+11G>A	not provided [RCV003106697]	benign	13	101059807	101059807	Human		name
156437168	CV1936996	single nucleotide variant	NM_052867.4(NALCN):c.2757+18A>G	not provided [RCV003106699]	benign	13	101104512	101104512	Human		name
156437186	CV1937017	single nucleotide variant	NM_052867.4(NALCN):c.3584-19C>T	not provided [RCV003106717]	likely benign	13	101083217	101083217	Human		name
156245187	CV1956923	single nucleotide variant	NM_052867.4(NALCN):c.4755+18A>G	not provided [RCV002576360]	likely benign	13	101061950	101061950	Human		name
156394820	CV1958818	single nucleotide variant	NM_052867.4(NALCN):c.3954+10T>C	not provided [RCV002584265]	likely benign	13	101075863	101075863	Human		name
156385760	CV1961224	deletion	NM_052867.4(NALCN):c.3162+19del	not provided [RCV002583470]	benign	13	101100765	101100765	Human		name
156409456	CV1961803	single nucleotide variant	NM_052867.4(NALCN):c.4197+18T>C	not provided [RCV002586823]	likely benign	13	101073566	101073566	Human		name
156419432	CV1967027	single nucleotide variant	NM_052867.4(NALCN):c.1134+11A>G	not provided [RCV002612666]	likely benign	13	101283922	101283922	Human		name
156385447	CV1971938	single nucleotide variant	NM_052867.4(NALCN):c.3391-18A>G	not provided [RCV002604262]	likely benign	13	101089779	101089779	Human		name
156327400	CV1980730	single nucleotide variant	NM_052867.4(NALCN):c.2757+13G>A	not provided [RCV002630730]	likely benign	13	101104517	101104517	Human		name
156344525	CV1981794	single nucleotide variant	NM_052867.4(NALCN):c.4330+12T>C	not provided [RCV002631606]	likely benign	13	101068683	101068683	Human		name
156248330	CV1988988	single nucleotide variant	NM_052867.4(NALCN):c.2890-16A>G	not provided [RCV002627367]	likely benign	13	101103355	101103355	Human		name
156389684	CV1989998	single nucleotide variant	NM_052867.4(NALCN):c.3489+14G>A	not provided [RCV002604558]	likely benign	13	101089649	101089649	Human		name
156392296	CV1991472	single nucleotide variant	NM_052867.4(NALCN):c.2118+13G>A	not provided [RCV002635109]	likely benign	13	101143067	101143067	Human		name
156108442	CV2002152	single nucleotide variant	NM_052867.4(NALCN):c.3885+13G>A	not provided [RCV002639844]	likely benign	13	101081514	101081514	Human		name
156108480	CV2002153	single nucleotide variant	NM_052867.4(NALCN):c.3489+20A>C	not provided [RCV002639845]	likely benign	13	101089643	101089643	Human		name
155948139	CV2029086	single nucleotide variant	NM_052867.4(NALCN):c.1135-16T>C	not provided [RCV002730526]	benign	13	101258590	101258590	Human		name
156134966	CV2048019	single nucleotide variant	NM_052867.4(NALCN):c.3162+10A>G	not provided [RCV002800750]	likely benign	13	101100774	101100774	Human		name
156152176	CV2049141	single nucleotide variant	NM_052867.4(NALCN):c.1134+17T>C	not provided [RCV002801327]	likely benign	13	101283916	101283916	Human		name
156311217	CV2076310	single nucleotide variant	NM_052867.4(NALCN):c.2457-17T>C	not provided [RCV002857675]	likely benign	13	101107626	101107626	Human		name
156257611	CV2090113	single nucleotide variant	NM_052867.4(NALCN):c.4104-20A>T	not provided [RCV002877155]	likely benign	13	101073697	101073697	Human		name
155913543	CV2145000	single nucleotide variant	NM_052867.4(NALCN):c.1434+19A>G	not provided [RCV002991496]	likely benign	13	101237736	101237736	Human		name
156234987	CV2145182	single nucleotide variant	NM_052867.4(NALCN):c.2758-16C>G	not provided [RCV003007886]	benign	13	101104442	101104442	Human		name
156038641	CV2150389	single nucleotide variant	NM_052867.4(NALCN):c.4605-17T>A	not provided [RCV003018970]	likely benign	13	101062135	101062135	Human		name
156154826	CV2150728	single nucleotide variant	NM_052867.4(NALCN):c.2456+19T>C	not provided [RCV003022980]	likely benign	13	101107679	101107679	Human		name
156190617	CV2165974	single nucleotide variant	NM_052867.4(NALCN):c.2579+12T>G	not provided [RCV003041639]	likely benign	13	101107475	101107475	Human		name
11547381	CV254776	single nucleotide variant	NM_052867.4(NALCN):c.4330+18A>G	not provided [RCV002058382]\|not specified [RCV000247686]	benign	13	101068677	101068677	Human		name
11543359	CV254780	single nucleotide variant	NM_052867.4(NALCN):c.2637-10T>G	Congenital contractures of the limbs and face, hypotonia, and developmental delay [RCV000989157]\|not provided [RCV001618474]\|not specified [RCV000242354]	benign	13	101104660	101104660	Human	1	name
401871964	CV2749615	single nucleotide variant	NM_052867.4(NALCN):c.3691-10T>G	not provided [RCV003332743]	uncertain significance	13	101082893	101082893	Human		name
402490870	CV2867234	single nucleotide variant	NM_052867.4(NALCN):c.2889+15A>G	not provided [RCV003544929]	likely benign	13	101104280	101104280	Human		name
402465935	CV2913912	single nucleotide variant	NM_052867.4(NALCN):c.2118+15T>A	not provided [RCV003569337]	likely benign	13	101143065	101143065	Human		name
405111304	CV2942187	single nucleotide variant	NM_052867.4(NALCN):c.1765-16T>A	not provided [RCV003666342]	likely benign	13	101176390	101176390	Human		name
402507650	CV2944499	single nucleotide variant	NM_052867.4(NALCN):c.2119-12T>C	not provided [RCV003662229]	likely benign	13	101124693	101124693	Human		name
402507661	CV2944500	deletion	NM_052867.4(NALCN):c.1134+16del	not provided [RCV003662230]	likely benign	13	101283917	101283917	Human		name
402498754	CV2946790	single nucleotide variant	NM_052867.4(NALCN):c.2118+18G>A	not provided [RCV003661389]	likely benign	13	101143062	101143062	Human		name
402507017	CV2947749	single nucleotide variant	NM_052867.4(NALCN):c.2889+13T>G	not provided [RCV003662100]	likely benign	13	101104282	101104282	Human		name
405222801	CV2976270	single nucleotide variant	NM_052867.4(NALCN):c.1047+16G>A	not provided [RCV003680876]	likely benign	13	101291974	101291974	Human		name
405188383	CV2977843	single nucleotide variant	NM_052867.4(NALCN):c.3058-19T>C	not provided [RCV003706236]	likely benign	13	101100907	101100907	Human		name
405224152	CV2983010	single nucleotide variant	NM_052867.4(NALCN):c.1048-20C>T	not provided [RCV003681142]	likely benign	13	101284039	101284039	Human		name
404980845	CV3006245	single nucleotide variant	NM_052867.4(NALCN):c.3269+14A>G	not provided [RCV003691209]	likely benign	13	101095560	101095560	Human		name
402524033	CV3015031	single nucleotide variant	NM_052867.4(NALCN):c.2580-15T>C	not provided [RCV003690510]	likely benign	13	101104965	101104965	Human		name
405050090	CV3025481	single nucleotide variant	NM_052867.4(NALCN):c.1267-14C>A	not provided [RCV003696918]	likely benign	13	101237936	101237936	Human		name
405227392	CV3039638	single nucleotide variant	NM_052867.4(NALCN):c.1435-20G>A	not provided [RCV003710939]	likely benign	13	101229604	101229604	Human		name
405245828	CV3075563	single nucleotide variant	NM_052867.4(NALCN):c.4905+10C>T	not provided [RCV003738571]	likely benign	13	101059808	101059808	Human		name
405130687	CV3115034	single nucleotide variant	NM_052867.4(NALCN):c.4331-18T>C	not provided [RCV003815879]	likely benign	13	101068051	101068051	Human		name
405133460	CV3115195	single nucleotide variant	NM_052867.4(NALCN):c.1976+10T>G	not provided [RCV003816040]	likely benign	13	101144750	101144750	Human		name
405181857	CV3119835	single nucleotide variant	NM_052867.4(NALCN):c.1047+11A>G	not provided [RCV003819928]	benign	13	101291979	101291979	Human		name
405207605	CV3120508	single nucleotide variant	NM_052867.4(NALCN):c.3765+17G>C	not provided [RCV003822842]	likely benign	13	101082792	101082792	Human		name
404998691	CV3123937	single nucleotide variant	NM_052867.4(NALCN):c.4604+17C>T	not provided [RCV003827844]	likely benign	13	101065387	101065387	Human		name
405182814	CV3124002	single nucleotide variant	NM_052867.4(NALCN):c.4605-20A>G	not provided [RCV003820198]	likely benign	13	101062138	101062138	Human		name
405027695	CV3129777	single nucleotide variant	NM_052867.4(NALCN):c.1047+20A>G	not provided [RCV003830375]	likely benign	13	101291970	101291970	Human		name
405198393	CV3132162	single nucleotide variant	NM_052867.4(NALCN):c.4905+16G>A	not provided [RCV003821755]	likely benign	13	101059802	101059802	Human		name
405036946	CV3140597	single nucleotide variant	NM_052867.4(NALCN):c.2757+13G>T	not provided [RCV003831079]	likely benign	13	101104517	101104517	Human		name
405209669	CV3145885	single nucleotide variant	NM_052867.4(NALCN):c.2889+19C>T	not provided [RCV003845615]	likely benign	13	101104276	101104276	Human		name
405197592	CV3146761	single nucleotide variant	NM_052867.4(NALCN):c.2580-18A>G	not provided [RCV003844116]	likely benign	13	101104968	101104968	Human		name
405217152	CV3153743	single nucleotide variant	NM_052867.4(NALCN):c.2636+18C>A	not provided [RCV003846626]	likely benign	13	101104876	101104876	Human		name
405234969	CV3155626	single nucleotide variant	NM_052867.4(NALCN):c.2192+10A>G	not provided [RCV003853604]	likely benign	13	101124598	101124598	Human		name
405232622	CV3157613	deletion	NM_052867.4(NALCN):c.2365-17del	not provided [RCV003865563]	likely benign	13	101107806	101107806	Human		name
405182281	CV3159606	single nucleotide variant	NM_052867.4(NALCN):c.3885+17A>G	not provided [RCV003858857]	likely benign	13	101081510	101081510	Human		name
405232965	CV3167953	single nucleotide variant	NM_052867.4(NALCN):c.1765-11C>T	not provided [RCV003865621]	likely benign	13	101176385	101176385	Human		name
405255499	CV3172432	single nucleotide variant	NM_052867.4(NALCN):c.2757+12C>T	not provided [RCV003872370]	likely benign	13	101104518	101104518	Human		name
405654135	CV3228117	single nucleotide variant	NM_052867.4(NALCN):c.1434+13A>G	not specified [RCV003994851]	likely benign	13	101237742	101237742	Human		name
596938176	CV3549487	single nucleotide variant	NM_052867.4(NALCN):c.4198-11A>G	Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 [RCV004812525]	likely pathogenic	13	101068838	101068838	Human	1	name
597843924	CV3736056	single nucleotide variant	NM_052867.4(NALCN):c.3691-20G>A	not provided [RCV005065404]	likely benign	13	101082903	101082903	Human		name
597839817	CV3737102	single nucleotide variant	NM_052867.4(NALCN):c.3691-17T>A	not provided [RCV005064582]	uncertain significance	13	101082900	101082900	Human		name
597905264	CV3738318	single nucleotide variant	NM_052867.4(NALCN):c.3954+12G>C	not provided [RCV005072740]	likely benign	13	101075861	101075861	Human		name
597830569	CV3743106	single nucleotide variant	NM_052867.4(NALCN):c.3163-15G>A	not provided [RCV005062114]	likely benign	13	101095695	101095695	Human		name
597874733	CV3747471	single nucleotide variant	NM_052867.4(NALCN):c.3391-12T>C	not provided [RCV005069155]	likely benign	13	101089773	101089773	Human		name
597852181	CV3758544	single nucleotide variant	NM_052867.4(NALCN):c.4330+10G>A	not provided [RCV005088103]	likely benign	13	101068685	101068685	Human		name
597949799	CV3759299	single nucleotide variant	NM_052867.4(NALCN):c.3390+16G>A	not provided [RCV005079096]	likely benign	13	101089830	101089830	Human		name
597905897	CV3773006	single nucleotide variant	NM_052867.4(NALCN):c.3954+20T>C	not provided [RCV005113070]	likely benign	13	101075853	101075853	Human		name
597898080	CV3782512	single nucleotide variant	NM_052867.4(NALCN):c.1839+11T>C	not provided [RCV005126737]	likely benign	13	101176289	101176289	Human		name
597939072	CV3788416	single nucleotide variant	NM_052867.4(NALCN):c.3955-13C>A	not provided [RCV005133091]	likely benign	13	101074675	101074675	Human		name
597862452	CV3813903	single nucleotide variant	NM_052867.4(NALCN):c.4905+12A>T	not provided [RCV005146972]	likely benign	13	101059806	101059806	Human		name
597967982	CV3820798	single nucleotide variant	NM_052867.4(NALCN):c.3058-19T>G	not provided [RCV005165639]	likely benign	13	101100907	101100907	Human		name
597857028	CV3822204	single nucleotide variant	NM_052867.4(NALCN):c.4756-12G>A	not provided [RCV005174502]	likely benign	13	101059979	101059979	Human		name
597863061	CV3822756	single nucleotide variant	NM_052867.4(NALCN):c.2636+13A>G	not provided [RCV005175288]	likely benign	13	101104881	101104881	Human		name
13462928	CV439092	single nucleotide variant	NM_052867.4(NALCN):c.4446+15T>C	not provided [RCV000515095]	benign\|likely benign	13	101067903	101067903	Human		name
15137123	CV690063	single nucleotide variant	NM_052867.4(NALCN):c.1135-10G>A	Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 [RCV002501234]\|not provided [RCV000864614]	benign\|likely benign	13	101258584	101258584	Human	1	name
15179045	CV775941	single nucleotide variant	NM_052867.4(NALCN):c.2457-10C>T	not provided [RCV000929546]	likely benign	13	101107619	101107619	Human		name
150336466	CV1165055	single nucleotide variant	NM_052867.4(NALCN):c.1840-101A>T	not provided [RCV001530856]	likely benign	13	101144997	101144997	Human		name
150339165	CV1167579	single nucleotide variant	NM_052867.4(NALCN):c.3886-308T>C	not provided [RCV001534081]	benign	13	101076249	101076249	Human		name
150339616	CV1167580	single nucleotide variant	NM_052867.4(NALCN):c.3489+187A>G	not provided [RCV001534373]	likely benign	13	101089476	101089476	Human		name
150333485	CV1169549	single nucleotide variant	NM_052867.4(NALCN):c.4331-102A>T	not provided [RCV001537359]	benign	13	101068135	101068135	Human		name
8582525	CV117076	single nucleotide variant	NM_052867.2(NALCN):c.3058-541G>A	Lung cancer [RCV000097597]	uncertain significance	13	101101429	101101429	Human		name
8582527	CV117078	single nucleotide variant	NM_052867.2(NALCN):c.800-4890T>G	Lung cancer [RCV000097599]	uncertain significance	13	101297256	101297256	Human		name
8582529	CV117080	single nucleotide variant	NM_052867.2(NALCN):c.645-4989T>C	Lung cancer [RCV000097601]	uncertain significance	13	101350409	101350409	Human		name
8582530	CV117081	single nucleotide variant	NM_052867.2(NALCN):c.-39-4432G>C	Lung cancer [RCV000097602]	uncertain significance	13	101403597	101403597	Human		name
150330475	CV1172506	single nucleotide variant	NM_052867.4(NALCN):c.4756-107C>A	not provided [RCV001538091]	benign	13	101060074	101060074	Human		name
150331833	CV1172508	single nucleotide variant	NM_052867.4(NALCN):c.1266+262T>G	not provided [RCV001538795]	likely benign	13	101258181	101258181	Human		name
150414370	CV1177684	single nucleotide variant	NM_052867.4(NALCN):c.3955-154A>C	not provided [RCV001548097]	likely benign	13	101074816	101074816	Human		name
150411028	CV1177685	single nucleotide variant	NM_052867.4(NALCN):c.3766-162G>T	not provided [RCV001546945]	likely benign	13	101081808	101081808	Human		name
150413787	CV1177688	single nucleotide variant	NM_052867.4(NALCN):c.2579+198A>G	not provided [RCV001547906]	likely benign	13	101107289	101107289	Human		name
150418592	CV1181088	single nucleotide variant	NM_052867.4(NALCN):c.3057+248A>C	not provided [RCV001550667]	likely benign	13	101102924	101102924	Human		name
150422280	CV1181089	single nucleotide variant	NM_052867.4(NALCN):c.1266+192T>G	not provided [RCV001552470]	likely benign	13	101258251	101258251	Human		name
150421393	CV1181090	single nucleotide variant	NM_052867.4(NALCN):c.1048-140A>G	not provided [RCV001551997]	likely benign	13	101284159	101284159	Human		name
150425201	CV1184782	single nucleotide variant	NM_052867.4(NALCN):c.4905+142A>C	not provided [RCV001557693]	likely benign	13	101059676	101059676	Human		name
150424578	CV1184785	single nucleotide variant	NM_052867.4(NALCN):c.3057+211G>A	not provided [RCV001556852]	likely benign	13	101102961	101102961	Human		name
150423313	CV1184786	single nucleotide variant	NM_052867.4(NALCN):c.2118+233T>C	not provided [RCV001555152]	likely benign	13	101142847	101142847	Human		name
150429406	CV1188014	single nucleotide variant	NM_052867.4(NALCN):c.3765+121T>C	not provided [RCV001563558]	likely benign	13	101082688	101082688	Human		name
150405759	CV1191492	single nucleotide variant	NM_052867.4(NALCN):c.4197+221C>A	not provided [RCV001564430]	likely benign	13	101073363	101073363	Human		name
150408478	CV1191493	single nucleotide variant	NM_052867.4(NALCN):c.2889+180T>G	not provided [RCV001565333]	likely benign	13	101104115	101104115	Human		name
150420632	CV1194742	single nucleotide variant	NM_052867.4(NALCN):c.4906-205T>C	not provided [RCV001570206]	likely benign	13	101058261	101058261	Human		name
150420394	CV1194745	single nucleotide variant	NM_052867.4(NALCN):c.3766-197G>A	not provided [RCV001570099]	likely benign	13	101081843	101081843	Human		name
150420502	CV1194746	single nucleotide variant	NM_052867.4(NALCN):c.3765+213G>A	not provided [RCV001570147]	likely benign	13	101082596	101082596	Human		name
150406119	CV1194750	single nucleotide variant	NM_052867.4(NALCN):c.1435-266T>C	not provided [RCV001571932]	likely benign	13	101229850	101229850	Human		name
150420092	CV1194752	deletion	NM_052867.4(NALCN):c.1134+172del	not provided [RCV001569965]	likely benign	13	101283761	101283761	Human		name
150413128	CV1198447	single nucleotide variant	NM_052867.4(NALCN):c.4906-226A>C	not provided [RCV001574529]	likely benign	13	101058282	101058282	Human		name
150457505	CV1202629	single nucleotide variant	NM_052867.4(NALCN):c.4197+190T>C	not provided [RCV001586282]	likely benign	13	101073394	101073394	Human		name
150442790	CV1204764	single nucleotide variant	NM_052867.4(NALCN):c.1765-212A>G	not provided [RCV001583871]	likely benign	13	101176586	101176586	Human		name
150494601	CV1204860	single nucleotide variant	NM_052867.4(NALCN):c.4755+288C>A	not provided [RCV001593352]	likely benign	13	101061680	101061680	Human		name
150449972	CV1205212	single nucleotide variant	NM_052867.4(NALCN):c.1048-184G>A	not provided [RCV001585111]	likely benign	13	101284203	101284203	Human		name
150452778	CV1205570	deletion	NM_052867.4(NALCN):c.1977-249del	not provided [RCV001585471]	likely benign	13	101143470	101143470	Human		name
150460860	CV1205832	single nucleotide variant	NM_052867.4(NALCN):c.4604+136A>T	not provided [RCV001586789]	likely benign	13	101065268	101065268	Human		name
150468915	CV1207485	single nucleotide variant	NM_052867.4(NALCN):c.4447-228A>G	not provided [RCV001588174]	likely benign	13	101065789	101065789	Human		name
150487687	CV1208143	single nucleotide variant	NM_052867.4(NALCN):c.1764+173C>T	not provided [RCV001592003]	likely benign	13	101191744	101191744	Human		name
150470062	CV1209253	single nucleotide variant	NM_052867.4(NALCN):c.2193-157G>A	not provided [RCV001588364]	likely benign	13	101111383	101111383	Human		name
150481430	CV1209791	single nucleotide variant	NM_052867.4(NALCN):c.1267-305A>G	not provided [RCV001590488]	likely benign	13	101238227	101238227	Human		name
150482025	CV1209896	single nucleotide variant	NM_052867.4(NALCN):c.4905+106A>G	not provided [RCV001590594]	likely benign	13	101059712	101059712	Human		name
150482474	CV1209974	single nucleotide variant	NM_052867.4(NALCN):c.3269+122G>A	not provided [RCV001590672]	likely benign	13	101095452	101095452	Human		name
150514045	CV1210831	single nucleotide variant	NM_052867.4(NALCN):c.4604+168C>T	not provided [RCV001598872]	benign	13	101065236	101065236	Human		name
150506752	CV1211001	single nucleotide variant	NM_052867.4(NALCN):c.1977-138T>C	not provided [RCV001596119]	likely benign	13	101143359	101143359	Human		name
150506883	CV1211034	single nucleotide variant	NM_052867.4(NALCN):c.4446+182C>T	not provided [RCV001596152]	likely benign	13	101067736	101067736	Human		name
150513669	CV1211358	deletion	NM_052867.4(NALCN):c.4905+143del	not provided [RCV001598546]	benign	13	101059675	101059675	Human		name
150510325	CV1211567	single nucleotide variant	NM_052867.4(NALCN):c.1765-171T>G	not provided [RCV001597359]	benign	13	101176545	101176545	Human		name
150514524	CV1212042	single nucleotide variant	NM_052867.4(NALCN):c.3885+230C>T	not provided [RCV001599111]	benign	13	101081297	101081297	Human		name
150461151	CV1215770	single nucleotide variant	NM_052867.4(NALCN):c.1267-162A>G	not provided [RCV001613472]	benign	13	101238084	101238084	Human		name
150433363	CV1216885	single nucleotide variant	NM_052867.4(NALCN):c.2193-129C>T	not provided [RCV001608787]	benign	13	101111355	101111355	Human		name
150467319	CV1218450	single nucleotide variant	NM_052867.4(NALCN):c.3490-169G>A	not provided [RCV001614487]	benign	13	101083973	101083973	Human		name
150476471	CV1218481	single nucleotide variant	NM_052867.4(NALCN):c.1266+177C>T	not provided [RCV001616108]	benign	13	101258266	101258266	Human		name
150439816	CV1221361	single nucleotide variant	NM_052867.4(NALCN):c.3584-132C>A	not provided [RCV001610056]	benign	13	101083330	101083330	Human		name
150436405	CV1221836	single nucleotide variant	NM_052867.4(NALCN):c.1134+263A>G	not provided [RCV001609528]	benign	13	101283670	101283670	Human		name
150483659	CV1222339	single nucleotide variant	NM_052867.4(NALCN):c.2579+303G>A	not provided [RCV001617341]	benign	13	101107184	101107184	Human		name
150487855	CV1225973	single nucleotide variant	NM_052867.4(NALCN):c.1977-229G>A	not provided [RCV001618134]	benign	13	101143450	101143450	Human		name
150517269	CV1226717	single nucleotide variant	NM_052867.4(NALCN):c.2890-123G>T	not provided [RCV001639811]	benign	13	101103462	101103462	Human		name
150517287	CV1226735	single nucleotide variant	NM_052867.4(NALCN):c.1435-295C>T	not provided [RCV001639829]	benign	13	101229879	101229879	Human		name
150517309	CV1226757	single nucleotide variant	NM_052867.4(NALCN):c.4331-176A>G	not provided [RCV001639851]	benign	13	101068209	101068209	Human		name
150517435	CV1226885	single nucleotide variant	NM_052867.4(NALCN):c.4906-188C>T	not provided [RCV001639980]	benign	13	101058244	101058244	Human		name
150509805	CV1228796	single nucleotide variant	NM_052867.4(NALCN):c.1764+319C>T	not provided [RCV001636581]	benign	13	101191598	101191598	Human		name
150461223	CV1231450	single nucleotide variant	NM_052867.4(NALCN):c.3270-162T>C	not provided [RCV001641016]	benign	13	101090128	101090128	Human		name
150452575	CV1231722	single nucleotide variant	NM_052867.4(NALCN):c.1764+144A>G	not provided [RCV001648029]	benign	13	101191773	101191773	Human		name
150431333	CV1235412	single nucleotide variant	NM_052867.4(NALCN):c.3269+204A>G	not provided [RCV001641782]	benign	13	101095370	101095370	Human		name
150459848	CV1236155	single nucleotide variant	NM_052867.4(NALCN):c.4103+280T>C	not provided [RCV001649126]	benign	13	101074234	101074234	Human		name
150490394	CV1239108	deletion	NM_052867.4(NALCN):c.3162+109del	not provided [RCV001654676]	benign	13	101100675	101100675	Human		name
150481196	CV1239734	single nucleotide variant	NM_052867.4(NALCN):c.1434+223A>G	not provided [RCV001652897]	benign	13	101237532	101237532	Human		name
150477016	CV1239969	single nucleotide variant	NM_052867.4(NALCN):c.4447-325G>C	not provided [RCV001652147]	benign	13	101065886	101065886	Human		name
150478409	CV1240188	single nucleotide variant	NM_052867.4(NALCN):c.3057+238C>G	not provided [RCV001652366]	benign	13	101102934	101102934	Human		name
150466064	CV1240345	duplication	NM_052867.4(NALCN):c.1134+161dup	not provided [RCV001650106]	benign	13	101283760	101283761	Human		name
150430266	CV1242909	duplication	NM_052867.4(NALCN):c.4756-177dup	not provided [RCV001662842]	benign	13	101060143	101060144	Human		name
150439022	CV1247663	deletion	NM_052867.4(NALCN):c.2365-294del	not provided [RCV001666030]	benign	13	101108083	101108083	Human		name
150471334	CV1248205	single nucleotide variant	NM_052867.4(NALCN):c.4104-116G>A	not provided [RCV001671242]	benign	13	101073793	101073793	Human		name
150458954	CV1248376	single nucleotide variant	NM_052867.4(NALCN):c.4755+149T>C	not provided [RCV001669197]	benign	13	101061819	101061819	Human		name
150469224	CV1249060	single nucleotide variant	NM_052867.4(NALCN):c.1435-246G>A	not provided [RCV001670821]	benign	13	101229830	101229830	Human		name
150437772	CV1249926	single nucleotide variant	NM_052867.4(NALCN):c.4755+291G>A	not provided [RCV001665840]	benign	13	101061677	101061677	Human		name
150502995	CV1254672	single nucleotide variant	NM_052867.4(NALCN):c.3058-121C>A	not provided [RCV001677374]	benign	13	101101009	101101009	Human		name
150504608	CV1255272	single nucleotide variant	NM_052867.4(NALCN):c.1840-227G>A	not provided [RCV001677719]	benign	13	101145123	101145123	Human		name
150497978	CV1256799	single nucleotide variant	NM_052867.4(NALCN):c.4104-284G>A	not provided [RCV001676291]	benign	13	101073961	101073961	Human	5	name
150449503	CV1260831	duplication	NM_052867.4(NALCN):c.4905+132dup	not provided [RCV001680500]	benign	13	101059674	101059675	Human		name
150450091	CV1260912	single nucleotide variant	NM_052867.4(NALCN):c.2118+187G>T	not provided [RCV001680581]	benign	13	101142893	101142893	Human		name
150486410	CV1262572	single nucleotide variant	NM_052867.4(NALCN):c.4330+253T>C	not provided [RCV001686969]	benign	13	101068442	101068442	Human		name
150486469	CV1262580	single nucleotide variant	NM_052867.4(NALCN):c.1434+126A>G	not provided [RCV001686977]	benign	13	101237629	101237629	Human		name
150438496	CV1264831	single nucleotide variant	NM_052867.4(NALCN):c.1764+294C>T	not provided [RCV001678824]	benign	13	101191623	101191623	Human		name
150454352	CV1265989	duplication	NM_052867.4(NALCN):c.5024-179dup	not provided [RCV001692566]	benign	13	101055657	101055658	Human		name
150439338	CV1266758	single nucleotide variant	NM_052867.4(NALCN):c.2118+114T>G	not provided [RCV001690193]	benign	13	101142966	101142966	Human		name
150494150	CV1267294	single nucleotide variant	NM_052867.4(NALCN):c.1134+176A>C	not provided [RCV001688322]	benign	13	101283757	101283757	Human		name
150469245	CV1268064	single nucleotide variant	NM_052867.4(NALCN):c.2118+271G>T	not provided [RCV001694927]	benign	13	101142809	101142809	Human		name
150445102	CV1269381	single nucleotide variant	NM_052867.4(NALCN):c.3765+134A>T	not provided [RCV001691068]	benign	13	101082675	101082675	Human		name
150472296	CV1270232	single nucleotide variant	NM_052867.4(NALCN):c.1048-253T>G	not provided [RCV001695520]	benign	13	101284272	101284272	Human		name
150435818	CV1270862	duplication	NM_052867.4(NALCN):c.1977-260dup	not provided [RCV001689412]	benign	13	101143469	101143470	Human		name
150460605	CV1275845	single nucleotide variant	NM_052867.4(NALCN):c.4755+266A>G	not provided [RCV001709783]	benign	13	101061702	101061702	Human		name
150463075	CV1276172	single nucleotide variant	NM_052867.4(NALCN):c.4756-255T>C	not provided [RCV001710117]	benign	13	101060222	101060222	Human		name
150475748	CV1279120	single nucleotide variant	NM_052867.4(NALCN):c.4447-252C>T	not provided [RCV001713885]	benign	13	101065813	101065813	Human		name
150489601	CV1279128	single nucleotide variant	NM_052867.4(NALCN):c.1267-218A>G	not provided [RCV001716325]	benign	13	101238140	101238140	Human		name
150481447	CV1279751	single nucleotide variant	NM_052867.4(NALCN):c.5024-256T>A	not provided [RCV001714848]	benign	13	101055744	101055744	Human		name
150477954	CV1281788	single nucleotide variant	NM_052867.4(NALCN):c.4605-275T>C	not provided [RCV001714212]	benign	13	101062393	101062393	Human		name
150436367	CV1286362	single nucleotide variant	NM_052867.4(NALCN):c.1047+136T>G	not provided [RCV001724438]	benign	13	101291854	101291854	Human		name
150436664	CV1286405	single nucleotide variant	NM_052867.4(NALCN):c.2119-247C>T	not provided [RCV001724481]	benign	13	101124928	101124928	Human		name
150436892	CV1286449	deletion	NM_052867.4(NALCN):c.1840-194del	not provided [RCV001724527]	benign	13	101145090	101145090	Human		name
150436936	CV1286458	single nucleotide variant	NM_052867.4(NALCN):c.2365-157A>G	not provided [RCV001724536]	benign	13	101107946	101107946	Human		name
150437279	CV1286520	duplication	NM_052867.4(NALCN):c.4103+170dup	not provided [RCV001724599]	benign	13	101074339	101074340	Human		name
150437557	CV1286564	single nucleotide variant	NM_052867.4(NALCN):c.5023+268C>A	not provided [RCV001724643]	benign	13	101057671	101057671	Human		name
401910134	CV2813985	single nucleotide variant	NM_052867.4(NALCN):c.645-2185T>C	not provided [RCV003398360]	benign	13	101347605	101347605	Human		name
8649134	CV117075	single nucleotide variant	NM_052867.2(NALCN):c.3886-1564C>G	Lung cancer [RCV000097596]	uncertain significance	13	101077505	101077505	Human		name
8582526	CV117077	single nucleotide variant	NM_052867.2(NALCN):c.2192+1840A>G	Lung cancer [RCV000097598]	uncertain significance	13	101122768	101122768	Human		name
8582528	CV117079	single nucleotide variant	NM_052867.2(NALCN):c.799+13048G>A	Lung cancer [RCV000097600]	uncertain significance	13	101332218	101332218	Human		name
150431898	CV1236580	microsatellite	NM_052867.4(NALCN):c.3955-50CT[9]	not provided [RCV001641984]	benign	13	101074693	101074694	Human		name
156027003	CV2139236	microsatellite	NM_052867.4(NALCN):c.4605-18GT[2]	not provided [RCV002998967]	likely benign	13	101062131	101062132	Human		name
405707744	CV3225419	single nucleotide variant	NM_052867.4(NALCN):c.2193-5743C>T	Congenital contractures of the limbs and face, hypotonia, and developmental delay [RCV003990473]	uncertain significance	13	101116969	101116969	Human	1	name
596947573	CV3549132	single nucleotide variant	NM_052867.4(NALCN):c.2193-5331C>T	not provided [RCV004811456]	uncertain significance	13	101116557	101116557	Human		name
150498977	CV1224511	microsatellite	NM_052867.4(NALCN):c.2890-240AC[8]	not provided [RCV001620341]	benign	13	101103562	101103563	Human		name
21072552	CV791290	microsatellite	NM_052867.4(NALCN):c.3955-50CT[11]	Congenital contractures of the limbs and face, hypotonia, and developmental delay [RCV000989156]\|not provided [RCV001675978]	benign	13	101074692	101074693	Human		name
150476909	CV1203112	microsatellite	NM_052867.4(NALCN):c.645-300TAGA[9]	not provided [RCV001589706]	likely benign	13	101345677	101345684	Human		name
150416557	CV1198455	microsatellite	NM_052867.4(NALCN):c.645-300TAGA[13]	not provided [RCV001575935]	likely benign	13	101345676	101345677	Human		name
150478342	CV1207649	microsatellite	NM_052867.4(NALCN):c.645-300TAGA[12]	not provided [RCV001589925]	likely benign	13	101345676	101345677	Human		name
150478221	CV1218750	microsatellite	NM_052867.4(NALCN):c.645-300TAGA[10]	not provided [RCV001616377]	benign	13	101345677	101345680	Human		name
150497037	CV1219340	microsatellite	NM_052867.4(NALCN):c.644+159ATTTT[6]	not provided [RCV001620009]	benign	13	101376516	101376517	Human		name
150448104	CV1261922	microsatellite	NM_052867.4(NALCN):c.644+159ATTTT[4]	not provided [RCV001680307]	benign	13	101376517	101376521	Human		name
150457567	CV1269508	microsatellite	NM_052867.4(NALCN):c.375+124ATTTT[2]	not provided [RCV001693048]	benign	13	101378432	101378436	Human		name
156273279	CV1957281	single nucleotide variant	NM_052867.4(NALCN):c.12G>A (p.Arg4=)	not provided [RCV002577236]	likely benign	13	101399115	101399115	Human		name
156007183	CV1981218	single nucleotide variant	NM_052867.4(NALCN):c.21T>C (p.Ser7=)	not provided [RCV002618723]	likely benign	13	101399106	101399106	Human		name
8582524	CV117074	single nucleotide variant	NR_047687.1(NALCN-AS1):n.141+62154G>T	Lung cancer [RCV000097595]	uncertain significance	13	100802782	100802782	Human		name
150423640	CV1184789	single nucleotide variant	NM_052867.4(NALCN):c.48T>C (p.Thr16=)	not provided [RCV001555599]	likely benign	13	101399079	101399079	Human		name
155949972	CV2084279	microsatellite	NM_052867.4(NALCN):c.3058-6_3058-3del	not provided [RCV002880444]	likely benign	13	101100891	101100894	Human		name
401910136	CV2813986	single nucleotide variant	NM_052867.4(NALCN):c.75G>A (p.Ser25=)	not provided [RCV003398361]	likely benign	13	101399052	101399052	Human		name
405200455	CV3164562	single nucleotide variant	NM_052867.4(NALCN):c.30G>A (p.Val10=)	not provided [RCV003860619]	likely benign	13	101399097	101399097	Human		name
597898679	CV3826661	single nucleotide variant	NM_052867.4(NALCN):c.42A>G (p.Pro14=)	not provided [RCV005180794]	likely benign	13	101399085	101399085	Human		name
597857727	CV3850111	duplication	NM_052867.4(NALCN):c.4659_4755+108dup	not provided [RCV005195443]	uncertain significance	13	101061859	101061860	Human		name
598125382	CV3883968	single nucleotide variant	NM_052867.4(NALCN):c.5T>A (p.Leu2His)	not provided [RCV005236323]	uncertain significance	13	101399122	101399122	Human		name
14710289	CV672305	deletion	NM_052867.4(NALCN):c.2889+3_2889+6del	Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 [RCV000845224]	pathogenic	13	101104289	101104292	Human	1	name
15124075	CV738915	single nucleotide variant	NM_052867.4(NALCN):c.90C>T (p.Ile30=)	not provided [RCV000896523]	likely benign	13	101399037	101399037	Human		name
152056518	CV1670460	single nucleotide variant	NM_052867.4(NALCN):c.147C>T (p.Ser49=)	not provided [RCV002225980]	likely benign	13	101395327	101395327	Human		name
156122153	CV1998334	deletion	NM_052867.4(NALCN):c.3765+9_3765+12del	not provided [RCV002662897]	likely benign	13	101082797	101082800	Human		name
156247600	CV2029459	single nucleotide variant	NM_052867.4(NALCN):c.186G>A (p.Glu62=)	not provided [RCV002745880]	likely benign	13	101395288	101395288	Human		name
156435305	CV2403530	single nucleotide variant	NM_052867.4(NALCN):c.19A>T (p.Ser7Cys)	Autism spectrum disorder [RCV003127466]\|not provided [RCV003778680]	likely benign\|uncertain significance	13	101399108	101399108	Human	2	name
405144896	CV3027382	single nucleotide variant	NM_052867.4(NALCN):c.138C>T (p.Ala46=)	not provided [RCV003702833]	likely benign	13	101395336	101395336	Human		name
405214399	CV3078465	single nucleotide variant	NM_052867.4(NALCN):c.183C>T (p.Phe61=)	not provided [RCV003732443]	likely benign	13	101395291	101395291	Human		name
405137535	CV3144718	single nucleotide variant	NM_052867.4(NALCN):c.228A>G (p.Thr76=)	not provided [RCV003855235]	likely benign	13	101395246	101395246	Human		name
405058838	CV3147889	single nucleotide variant	NM_052867.4(NALCN):c.108A>G (p.Pro36=)	not provided [RCV003850119]	uncertain significance	13	101399019	101399019	Human		name
405041198	CV3154004	single nucleotide variant	NM_052867.4(NALCN):c.249G>C (p.Thr83=)	not provided [RCV003848872]	likely benign	13	101395225	101395225	Human		name
405277907	CV3191162	deletion	NM_052867.4(NALCN):c.2364+6_2364+12del	NALCN-related disorder [RCV004539291]	likely benign	13	101110607	101110613	Human		name , trait , alternate_id
597877752	CV3813402	single nucleotide variant	NM_052867.4(NALCN):c.180C>T (p.Thr60=)	not provided [RCV005149338]	likely benign	13	101395294	101395294	Human		name
597922597	CV3839827	single nucleotide variant	NM_052867.4(NALCN):c.171G>A (p.Thr57=)	not provided [RCV005184566]	likely benign	13	101395303	101395303	Human		name
597959517	CV3848691	deletion	NM_052867.4(NALCN):c.1626+9_1626+13del	not provided [RCV005192392]	uncertain significance	13	101229380	101229384	Human		name
15135361	CV690062	duplication	NM_052867.4(NALCN):c.5024-10_5024-7dup	NALCN-related disorder [RCV004540181]\|not provided [RCV000864299]	likely benign	13	101055494	101055495	Human	1	name , alternate_id
15110794	CV753671	single nucleotide variant	NM_052867.4(NALCN):c.189C>T (p.His63=)	not provided [RCV000916606]	likely benign	13	101395285	101395285	Human		name
8627410	CV82554	single nucleotide variant	NM_052867.4(NALCN):c.249G>A (p.Thr83=)	not provided [RCV001652964]	conflicting interpretations of pathogenicity\|uncertain significance\|not provided	13	101395225	101395225	Human		name
150338949	CV1167581	deletion	NM_052867.4(NALCN):c.1267-14_1267-11del	not provided [RCV001533918]	likely benign	13	101237933	101237936	Human		name
150440484	CV1201694	single nucleotide variant	NM_052867.4(NALCN):c.693A>G (p.Pro231=)	NALCN-related disorder [RCV004536212]\|not provided [RCV001583506]	likely benign	13	101345372	101345372	Human	1	name , alternate_id
150460617	CV1205800	microsatellite	NM_052867.4(NALCN):c.-39-128_-39-127del	not provided [RCV001586757]	likely benign	13	101399292	101399293	Human		name
150511170	CV1213817	deletion	NM_052867.4(NALCN):c.292-144_292-138del	not provided [RCV001597886]	benign	13	101378791	101378797	Human		name
150482222	CV1247419	deletion	NM_052867.4(NALCN):c.4447-69_4447-68del	not provided [RCV001673244]	benign	13	101065629	101065630	Human		name
150465468	CV1268615	deletion	NM_052867.4(NALCN):c.644+114_644+117del	not provided [RCV001694311]	benign	13	101376583	101376586	Human		name
150485132	CV1273977	deletion	NM_052867.4(NALCN):c.1435-86_1435-82del	not provided [RCV001698648]	benign	13	101229666	101229670	Human		name
150546467	CV1291411	single nucleotide variant	NM_052867.4(NALCN):c.459A>G (p.Ala153=)	not provided [RCV001733227]	likely benign	13	101376973	101376973	Human		name
156403861	CV1871931	single nucleotide variant	NM_052867.4(NALCN):c.517C>A (p.Arg173=)	not provided [RCV003052702]	likely benign	13	101376827	101376827	Human		name
156092581	CV1994434	single nucleotide variant	NM_052867.4(NALCN):c.717C>T (p.Cys239=)	not provided [RCV002639275]	likely benign	13	101345348	101345348	Human		name
156343545	CV1994977	single nucleotide variant	NM_052867.4(NALCN):c.507T>C (p.Asn169=)	not provided [RCV002650447]	likely benign	13	101376925	101376925	Human		name
156305827	CV1999832	single nucleotide variant	NM_052867.4(NALCN):c.714G>A (p.Gln238=)	not provided [RCV002671378]	likely benign	13	101345351	101345351	Human		name
155905852	CV2007350	single nucleotide variant	NM_052867.4(NALCN):c.318C>T (p.Arg106=)	NALCN-related disorder [RCV004534164]\|not provided [RCV002681388]	likely benign	13	101378627	101378627	Human	1	name , alternate_id
156234817	CV2016126	single nucleotide variant	NM_052867.4(NALCN):c.675A>G (p.Pro225=)	not provided [RCV002701505]	likely benign	13	101345390	101345390	Human		name
156245521	CV2149111	single nucleotide variant	NM_052867.4(NALCN):c.306T>C (p.Tyr102=)	not provided [RCV003008255]	likely benign	13	101378639	101378639	Human		name
329954855	CV2670787	single nucleotide variant	NM_052867.4(NALCN):c.34G>A (p.Ala12Thr)	not provided [RCV003236055]	uncertain significance	13	101399093	101399093	Human		name
404981854	CV2848925	single nucleotide variant	NM_052867.4(NALCN):c.68C>T (p.Ser23Phe)	Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 [RCV003488827]\|not provided [RCV004765857]	uncertain significance	13	101399059	101399059	Human	1	name
402501170	CV2943695	single nucleotide variant	NM_052867.4(NALCN):c.801A>T (p.Gly267=)	not provided [RCV003661621]	likely benign	13	101292365	101292365	Human		name
405127928	CV2954827	microsatellite	NM_052867.4(NALCN):c.4198-21_4198-19del	not provided [RCV003668107]	likely benign	13	101068846	101068848	Human		name
402522424	CV3005170	single nucleotide variant	NM_052867.4(NALCN):c.495C>G (p.Thr165=)	not provided [RCV003690401]	likely benign	13	101376937	101376937	Human		name
405206595	CV3064362	single nucleotide variant	NM_052867.4(NALCN):c.816C>T (p.Thr272=)	not provided [RCV003731388]	likely benign	13	101292350	101292350	Human		name
405146842	CV3067278	single nucleotide variant	NM_052867.4(NALCN):c.885T>C (p.Arg295=)	not provided [RCV003726123]	likely benign	13	101292281	101292281	Human		name
405232982	CV3144979	single nucleotide variant	NM_052867.4(NALCN):c.822T>C (p.Tyr274=)	not provided [RCV003853236]	likely benign	13	101292344	101292344	Human		name
405266855	CV3202115	single nucleotide variant	NM_052867.4(NALCN):c.663T>C (p.Ser221=)	NALCN-related disorder [RCV004536916]	likely benign	13	101345402	101345402	Human		name , trait , alternate_id
597832254	CV3740153	single nucleotide variant	NM_052867.4(NALCN):c.873C>T (p.Asp291=)	not provided [RCV005062852]	likely benign	13	101292293	101292293	Human		name
597837344	CV3740189	single nucleotide variant	NM_052867.4(NALCN):c.489A>G (p.Pro163=)	not provided [RCV005064217]	likely benign	13	101376943	101376943	Human		name
597886011	CV3741747	duplication	NM_052867.4(NALCN):c.4905+16_4905+18dup	not provided [RCV005070466]	likely benign	13	101059799	101059800	Human		name
597956800	CV3800301	deletion	NM_052867.4(NALCN):c.3886-15_3886-13del	not provided [RCV005137393]	likely benign	13	101075954	101075956	Human		name
597919227	CV3811620	deletion	NM_052867.4(NALCN):c.2119-13_2119-12del	not provided [RCV005155451]	likely benign	13	101124693	101124694	Human		name
597955667	CV3841912	single nucleotide variant	NM_052867.4(NALCN):c.618C>T (p.His206=)	not provided [RCV005191409]	likely benign	13	101376726	101376726	Human		name
597966949	CV3855676	single nucleotide variant	NM_052867.4(NALCN):c.420C>A (p.Gly140=)	not provided [RCV005194656]	likely benign	13	101377012	101377012	Human		name
15191027	CV738914	single nucleotide variant	NM_052867.4(NALCN):c.927C>T (p.Leu309=)	not provided [RCV000910125]	likely benign	13	101292239	101292239	Human		name
15199532	CV753667	single nucleotide variant	NM_052867.4(NALCN):c.915C>A (p.Leu305=)	not provided [RCV000912576]	likely benign	13	101292251	101292251	Human		name
15105104	CV753668	single nucleotide variant	NM_052867.4(NALCN):c.828C>T (p.Ala276=)	not provided [RCV000915482]	likely benign	13	101292338	101292338	Human		name
15158685	CV753669	single nucleotide variant	NM_052867.4(NALCN):c.540T>C (p.Ser180=)	not provided [RCV000925124]\|not specified [RCV003489969]	likely benign	13	101376804	101376804	Human		name
15148152	CV753670	single nucleotide variant	NM_052867.4(NALCN):c.522G>A (p.Ser174=)	NALCN-related disorder [RCV004533556]\|not provided [RCV000923043]	likely benign	13	101376822	101376822	Human	1	name , alternate_id
15133039	CV769382	single nucleotide variant	NM_052867.4(NALCN):c.570T>C (p.Leu190=)	not provided [RCV000942500]	likely benign	13	101376774	101376774	Human		name
15119359	CV769383	single nucleotide variant	NM_052867.4(NALCN):c.456A>C (p.Arg152=)	not provided [RCV000940172]	likely benign	13	101376976	101376976	Human		name
126743600	CV1017711	single nucleotide variant	NM_052867.4(NALCN):c.257T>A (p.Met86Lys)	Congenital contractures of the limbs and face, hypotonia, and developmental delay [RCV001330239]	uncertain significance	13	101395217	101395217	Human	1	name
126733838	CV1021137	single nucleotide variant	NM_052867.4(NALCN):c.217A>T (p.Thr73Ser)	Congenital contractures of the limbs and face, hypotonia, and developmental delay [RCV001334437]	uncertain significance	13	101395257	101395257	Human	1	name
150428223	CV1188019	single nucleotide variant	NM_052867.4(NALCN):c.1263G>A (p.Ala421=)	not provided [RCV001561982]	likely benign	13	101258446	101258446	Human		name
150427439	CV1188021	single nucleotide variant	NM_052867.4(NALCN):c.208G>T (p.Val70Leu)	NALCN-related disorder [RCV004542010]\|not provided [RCV001560924]	likely benign	13	101395266	101395266	Human	1	name , alternate_id
150414380	CV1198448	single nucleotide variant	NM_052867.4(NALCN):c.2577C>T (p.Asn859=)	not provided [RCV001574933]	likely benign	13	101107489	101107489	Human		name
150419839	CV1198451	single nucleotide variant	NM_052867.4(NALCN):c.1701G>A (p.Val567=)	not provided [RCV001577354]	likely benign	13	101191980	101191980	Human		name
150456933	CV1202559	single nucleotide variant	NM_052867.4(NALCN):c.1617G>A (p.Thr539=)	not provided [RCV001586212]	benign\|likely benign	13	101229402	101229402	Human		name
150482260	CV1244248	deletion	NM_052867.4(NALCN):c.303del (p.Tyr102fs)	not provided [RCV001653095]	pathogenic	13	101378642	101378642	Human		name
150507647	CV1257190	insertion	NM_052867.4(NALCN):c.109-141_109-140insA	not provided [RCV001678489]	benign	13	101395505	101395506	Human		name
150545916	CV1297028	single nucleotide variant	NM_052867.4(NALCN):c.157G>C (p.Val53Leu)	not provided [RCV001763319]	uncertain significance	13	101395317	101395317	Human		name
152061771	CV1666421	single nucleotide variant	NM_052867.4(NALCN):c.2943A>T (p.Gly981=)	Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 [RCV002208758]	uncertain significance	13	101103286	101103286	Human	1	name
153301677	CV1689284	single nucleotide variant	NM_052867.4(NALCN):c.107C>A (p.Pro36Gln)	Inborn genetic diseases [RCV003096058]\|not provided [RCV002267234]	uncertain significance	13	101399020	101399020	Human	1	name
156208836	CV1932294	single nucleotide variant	NM_052867.4(NALCN):c.2220C>T (p.Ser740=)	not provided [RCV002643916]	likely benign	13	101111199	101111199	Human		name
156448486	CV1950768	single nucleotide variant	NM_052867.4(NALCN):c.2436G>A (p.Lys812=)	not provided [RCV003120048]	likely benign	13	101107718	101107718	Human		name
156268176	CV1957070	single nucleotide variant	NM_052867.4(NALCN):c.1863G>A (p.Ala621=)	not provided [RCV002577075]	likely benign	13	101144873	101144873	Human		name
156156130	CV1957760	single nucleotide variant	NM_052867.4(NALCN):c.2499C>T (p.Phe833=)	not provided [RCV002573061]	benign	13	101107567	101107567	Human		name
156252753	CV1993562	single nucleotide variant	NM_052867.4(NALCN):c.2046G>A (p.Pro682=)	not provided [RCV002627505]	likely benign	13	101143152	101143152	Human		name
156282237	CV2001464	single nucleotide variant	NM_052867.4(NALCN):c.240T>G (p.Phe80Leu)	not provided [RCV002646883]	uncertain significance	13	101395234	101395234	Human		name
156318026	CV2025116	single nucleotide variant	NM_052867.4(NALCN):c.1719C>T (p.Pro573=)	not provided [RCV002716915]	likely benign	13	101191962	101191962	Human		name
155909397	CV2044835	single nucleotide variant	NM_052867.4(NALCN):c.2394A>T (p.Ala798=)	not provided [RCV002771468]	likely benign	13	101107760	101107760	Human		name
156236069	CV2072527	deletion	NM_052867.4(NALCN):c.609del (p.Phe203fs)	not provided [RCV002830235]	pathogenic	13	101376735	101376735	Human		name
156156141	CV2098748	single nucleotide variant	NM_052867.4(NALCN):c.1653C>T (p.Leu551=)	not provided [RCV002890820]	likely benign	13	101192028	101192028	Human		name
156150562	CV2124850	single nucleotide variant	NM_052867.4(NALCN):c.1116C>T (p.Arg372=)	not provided [RCV002928887]	likely benign	13	101283951	101283951	Human		name
156094781	CV2139504	single nucleotide variant	NM_052867.4(NALCN):c.161G>C (p.Cys54Ser)	not provided [RCV002979751]	uncertain significance	13	101395313	101395313	Human		name
156136151	CV2141084	single nucleotide variant	NM_052867.4(NALCN):c.257T>C (p.Met86Thr)	not provided [RCV002982142]	uncertain significance	13	101395217	101395217	Human		name
155977606	CV2147595	single nucleotide variant	NM_052867.4(NALCN):c.1977G>A (p.Arg659=)	not provided [RCV003033724]	uncertain significance	13	101143221	101143221	Human		name
156230073	CV2176712	single nucleotide variant	NM_052867.4(NALCN):c.2250G>A (p.Glu750=)	not provided [RCV003059271]	likely benign	13	101111169	101111169	Human		name
156372713	CV2194534	single nucleotide variant	NM_052867.4(NALCN):c.184G>A (p.Glu62Lys)	Inborn genetic diseases [RCV002677066]\|not provided [RCV003777598]	uncertain significance	13	101395290	101395290	Human	1	name
243054030	CV2418386	single nucleotide variant	NM_052867.4(NALCN):c.1626G>A (p.Arg542=)	not provided [RCV003154419]	uncertain significance	13	101229393	101229393	Human		name
11549588	CV254781	single nucleotide variant	NM_052867.4(NALCN):c.2520C>T (p.Val840=)	not provided [RCV000870955]\|not specified [RCV000250610]	benign	13	101107546	101107546	Human		name
11549205	CV254784	single nucleotide variant	NM_052867.4(NALCN):c.2241C>T (p.Pro747=)	Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 [RCV002494771]\|NALCN-related disorder [RCV004529448]\|not provided [RCV000865376]	benign\|likely benign	13	101111178	101111178	Human	2	name , alternate_id
11547716	CV254787	single nucleotide variant	NM_052867.4(NALCN):c.1836A>G (p.Lys612=)	not provided [RCV001668598]\|not specified [RCV000248127]	benign	13	101176303	101176303	Human		name
11544134	CV254788	single nucleotide variant	NM_052867.4(NALCN):c.1593C>T (p.Val531=)	Congenital contractures of the limbs and face, hypotonia, and developmental delay [RCV001778867]\|Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 [RCV001778866]\|not provided [RCV001696201]\|not specified [RCV000243380]	benign	13	101229426	101229426	Human	2	name
401870933	CV2749445	single nucleotide variant	NM_052867.4(NALCN):c.132C>G (p.Ile44Met)	not provided [RCV003332573]	uncertain significance	13	101395342	101395342	Human		name
401856264	CV2752404	single nucleotide variant	NM_052867.4(NALCN):c.152T>A (p.Ile51Asn)	Congenital contractures of the limbs and face, hypotonia, and developmental delay [RCV003340741]	uncertain significance	13	101395322	101395322	Human	1	name
402505804	CV2880616	single nucleotide variant	NM_052867.4(NALCN):c.1203G>A (p.Ala401=)	not provided [RCV003546350]	likely benign	13	101258506	101258506	Human		name
405230620	CV2904901	single nucleotide variant	NM_052867.4(NALCN):c.1885T>C (p.Leu629=)	not provided [RCV003555323]	likely benign	13	101144851	101144851	Human		name
405211913	CV2917195	single nucleotide variant	NM_052867.4(NALCN):c.1266G>A (p.Glu422=)	not provided [RCV003567191]	uncertain significance	13	101258443	101258443	Human		name
405184575	CV2920466	single nucleotide variant	NM_052867.4(NALCN):c.1257C>T (p.Tyr419=)	not provided [RCV003564331]	likely benign	13	101258452	101258452	Human		name
405132147	CV2950014	single nucleotide variant	NM_052867.4(NALCN):c.1623G>T (p.Pro541=)	not provided [RCV003672502]	likely benign	13	101229396	101229396	Human		name
405154939	CV2950628	single nucleotide variant	NM_052867.4(NALCN):c.1722G>A (p.Val574=)	not provided [RCV003670214]	likely benign	13	101191959	101191959	Human		name
405157680	CV2956519	single nucleotide variant	NM_052867.4(NALCN):c.2922A>G (p.Gln974=)	not provided [RCV003674373]	uncertain significance	13	101103307	101103307	Human		name
405142018	CV2958751	single nucleotide variant	NM_052867.4(NALCN):c.154T>A (p.Ser52Thr)	not provided [RCV003673313]	uncertain significance	13	101395320	101395320	Human		name
405129168	CV2962202	single nucleotide variant	NM_052867.4(NALCN):c.1992G>A (p.Lys664=)	not provided [RCV003668224]	uncertain significance	13	101143206	101143206	Human		name
405246252	CV2965517	single nucleotide variant	NM_052867.4(NALCN):c.1890C>G (p.Arg630=)	not provided [RCV003685258]	likely benign	13	101144846	101144846	Human		name
405251798	CV3046253	single nucleotide variant	NM_052867.4(NALCN):c.1263G>C (p.Ala421=)	not provided [RCV003721999]	likely benign	13	101258446	101258446	Human		name
405209256	CV3061977	single nucleotide variant	NM_052867.4(NALCN):c.1425G>A (p.Thr475=)	NALCN-related disorder [RCV004539103]\|not provided [RCV003731755]	likely benign	13	101237764	101237764	Human	1	name , alternate_id
405148908	CV3063486	single nucleotide variant	NM_052867.4(NALCN):c.1152C>T (p.Ser384=)	not provided [RCV003726272]	likely benign	13	101258557	101258557	Human		name
405038543	CV3067718	single nucleotide variant	NM_052867.4(NALCN):c.2310A>G (p.Gly770=)	not provided [RCV003739731]	benign	13	101110673	101110673	Human		name
405231404	CV3070635	single nucleotide variant	NM_052867.4(NALCN):c.1542C>T (p.Ala514=)	not provided [RCV003734969]	likely benign	13	101229477	101229477	Human		name
405188033	CV3121262	single nucleotide variant	NM_052867.4(NALCN):c.2265C>T (p.Ser755=)	not provided [RCV003820718]	likely benign	13	101111154	101111154	Human		name
404977073	CV3127100	single nucleotide variant	NM_052867.4(NALCN):c.1014G>A (p.Ser338=)	NALCN-related disorder [RCV004539152]\|not provided [RCV003825323]	likely benign	13	101292023	101292023	Human	1	name , alternate_id
405128428	CV3132989	single nucleotide variant	NM_052867.4(NALCN):c.2685A>C (p.Val895=)	not provided [RCV003838152]	likely benign	13	101104602	101104602	Human		name
405085744	CV3137738	single nucleotide variant	NM_052867.4(NALCN):c.1485T>C (p.Phe495=)	not provided [RCV003834447]	likely benign	13	101229534	101229534	Human		name
405051944	CV3138331	single nucleotide variant	NM_052867.4(NALCN):c.2682C>T (p.Ile894=)	not provided [RCV003832175]	uncertain significance	13	101104605	101104605	Human		name
405204219	CV3144075	single nucleotide variant	NM_052867.4(NALCN):c.1893G>A (p.Leu631=)	not provided [RCV003844865]	likely benign	13	101144843	101144843	Human		name
405168156	CV3153694	single nucleotide variant	NM_052867.4(NALCN):c.1425G>C (p.Thr475=)	not provided [RCV003841239]	likely benign	13	101237764	101237764	Human		name
405258525	CV3194024	single nucleotide variant	NM_052867.4(NALCN):c.1209C>T (p.Ser403=)	NALCN-related disorder [RCV004539197]\|not provided [RCV005101497]	likely benign	13	101258500	101258500	Human	1	name , alternate_id
405255930	CV3208456	single nucleotide variant	NM_052867.4(NALCN):c.1026T>C (p.Thr342=)	NALCN-related disorder [RCV004532240]	likely benign	13	101292011	101292011	Human		name , trait , alternate_id
407428657	CV3410316	single nucleotide variant	NM_052867.4(NALCN):c.2619A>G (p.Thr873=)	not specified [RCV004587923]	likely benign	13	101104911	101104911	Human		name
408370598	CV3512229	single nucleotide variant	NM_052867.4(NALCN):c.2055T>C (p.Ser685=)	NALCN-related disorder [RCV004739949]	likely benign	13	101143143	101143143	Human		name , trait , alternate_id
596944536	CV3543424	single nucleotide variant	NM_052867.4(NALCN):c.146G>A (p.Ser49Asn)	not provided [RCV004801545]	uncertain significance	13	101395328	101395328	Human		name
596947281	CV3548831	single nucleotide variant	NM_052867.4(NALCN):c.1371C>A (p.Leu457=)	not provided [RCV004811155]	likely benign	13	101237818	101237818	Human		name
597862925	CV3745248	single nucleotide variant	NM_052867.4(NALCN):c.1029C>T (p.Thr343=)	not provided [RCV005067604]	likely benign	13	101292008	101292008	Human		name
597912235	CV3745575	single nucleotide variant	NM_052867.4(NALCN):c.1170C>T (p.Ile390=)	not provided [RCV005073576]	likely benign	13	101258539	101258539	Human		name
597943300	CV3757953	single nucleotide variant	NM_052867.4(NALCN):c.2271G>A (p.Gln757=)	not provided [RCV005077952]	likely benign	13	101111148	101111148	Human		name
597872875	CV3768810	single nucleotide variant	NM_052867.4(NALCN):c.1263G>T (p.Ala421=)	not provided [RCV005122980]	likely benign	13	101258446	101258446	Human		name
597885955	CV3780571	single nucleotide variant	NM_052867.4(NALCN):c.2551C>A (p.Arg851=)	not provided [RCV005124699]	likely benign	13	101107515	101107515	Human		name
597965957	CV3793867	single nucleotide variant	NM_052867.4(NALCN):c.2953C>T (p.Leu985=)	not provided [RCV005140249]	likely benign	13	101103276	101103276	Human		name
597897884	CV3806878	single nucleotide variant	NM_052867.4(NALCN):c.2961C>T (p.Val987=)	not provided [RCV005152265]	likely benign	13	101103268	101103268	Human		name
597935949	CV3807566	single nucleotide variant	NM_052867.4(NALCN):c.2004C>T (p.Asp668=)	not provided [RCV005157944]	likely benign	13	101143194	101143194	Human		name
597960480	CV3811900	single nucleotide variant	NM_052867.4(NALCN):c.2991C>T (p.Phe997=)	not provided [RCV005163553]	likely benign	13	101103238	101103238	Human		name
597831113	CV3820214	single nucleotide variant	NM_052867.4(NALCN):c.2976A>G (p.Arg992=)	not provided [RCV005169991]	likely benign	13	101103253	101103253	Human		name
597856098	CV3822092	single nucleotide variant	NM_052867.4(NALCN):c.1416A>G (p.Ser472=)	not provided [RCV005174390]	likely benign	13	101237773	101237773	Human		name
597899384	CV3826768	single nucleotide variant	NM_052867.4(NALCN):c.1665A>G (p.Gly555=)	not provided [RCV005180901]	likely benign	13	101192016	101192016	Human		name
597954242	CV3844375	single nucleotide variant	NM_052867.4(NALCN):c.1248C>T (p.Asp416=)	not provided [RCV005191048]	likely benign	13	101258461	101258461	Human		name
597965270	CV3848308	single nucleotide variant	NM_052867.4(NALCN):c.2568A>G (p.Ala856=)	not provided [RCV005194188]	likely benign	13	101107498	101107498	Human		name
597937315	CV3852574	single nucleotide variant	NM_052867.4(NALCN):c.1185C>T (p.Thr395=)	not provided [RCV005186973]	likely benign	13	101258524	101258524	Human		name
597937357	CV3852583	single nucleotide variant	NM_052867.4(NALCN):c.2526A>G (p.Arg842=)	not provided [RCV005186982]	likely benign	13	101107540	101107540	Human		name
15040423	CV680110	single nucleotide variant	NM_052867.4(NALCN):c.191A>G (p.Tyr64Cys)	Fetal akinesia deformation sequence 1 [RCV000855469]	likely pathogenic	13	101395283	101395283	Human	3	name
15104417	CV688094	single nucleotide variant	NM_052867.4(NALCN):c.2859C>T (p.Phe953=)	Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 [RCV002501305]\|NALCN-related disorder [RCV004538296]\|not provided [RCV000870864]	benign\|likely benign	13	101104325	101104325	Human	2	name , alternate_id
15108475	CV693318	single nucleotide variant	NM_052867.4(NALCN):c.2592C>T (p.Asp864=)	not provided [RCV000871703]	benign\|likely benign	13	101104938	101104938	Human		name
15140419	CV693319	single nucleotide variant	NM_052867.4(NALCN):c.2172C>T (p.Thr724=)	not provided [RCV000877494]	benign\|likely benign	13	101124628	101124628	Human		name
15147302	CV693320	single nucleotide variant	NM_052867.4(NALCN):c.1623G>A (p.Pro541=)	not provided [RCV000878724]	benign\|likely benign	13	101229396	101229396	Human		name
15144529	CV693321	single nucleotide variant	NM_052867.4(NALCN):c.1371C>T (p.Leu457=)	not provided [RCV000878233]	likely benign	13	101237818	101237818	Human		name
15114412	CV693322	single nucleotide variant	NM_052867.4(NALCN):c.103A>G (p.Lys35Glu)	Inborn genetic diseases [RCV004958218]\|not provided [RCV000872953]	likely benign\|uncertain significance	13	101399024	101399024	Human	1	name
15166841	CV702565	single nucleotide variant	NM_052867.4(NALCN):c.175A>G (p.Met59Val)	NALCN-related disorder [RCV004533637]\|not provided [RCV000948926]	likely benign	13	101395299	101395299	Human	1	name , alternate_id
15184897	CV725335	single nucleotide variant	NM_052867.4(NALCN):c.1593C>G (p.Val531=)	not provided [RCV000886550]	likely benign	13	101229426	101229426	Human		name
15119114	CV738912	single nucleotide variant	NM_052867.4(NALCN):c.2514C>T (p.Phe838=)	not provided [RCV000895666]	likely benign	13	101107552	101107552	Human		name
15116298	CV738913	single nucleotide variant	NM_052867.4(NALCN):c.2067C>T (p.Cys689=)	not provided [RCV000895175]	likely benign	13	101143131	101143131	Human		name
15160863	CV753664	single nucleotide variant	NM_052867.4(NALCN):c.2724G>A (p.Pro908=)	not provided [RCV000925570]	likely benign	13	101104563	101104563	Human		name
15109511	CV753665	single nucleotide variant	NM_052867.4(NALCN):c.2229T>C (p.Phe743=)	not provided [RCV000916351]	likely benign	13	101111190	101111190	Human		name
15115181	CV753666	single nucleotide variant	NM_052867.4(NALCN):c.1245C>T (p.Tyr415=)	not provided [RCV000917411]	likely benign	13	101258464	101258464	Human		name
15138665	CV769381	single nucleotide variant	NM_052867.4(NALCN):c.1197C>A (p.Ile399=)	not provided [RCV000943431]	likely benign	13	101258512	101258512	Human		name
8627409	CV82553	single nucleotide variant	NM_052867.4(NALCN):c.1494G>A (p.Lys498=)	not provided [RCV003715720]	likely benign\|not provided	13	101229525	101229525	Human		name
38465558	CV961870	deletion	NM_052867.4(NALCN):c.883del (p.Arg295fs)	Congenital contractures of the limbs and face, hypotonia, and developmental delay [RCV001250195]	likely pathogenic	13	101292283	101292283	Human	1	name
42723694	CV984599	deletion	NM_052867.4(NALCN):c.638del (p.Lys213fs)	Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 [RCV001291687]	likely pathogenic	13	101376706	101376706	Human	1	name
126743619	CV1017709	single nucleotide variant	NM_052867.4(NALCN):c.946G>A (p.Val316Met)	Congenital contractures of the limbs and face, hypotonia, and developmental delay [RCV005232273]\|Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 [RCV001330243]\|not provided [RCV005414594]	likely pathogenic\|uncertain significance	13	101292091	101292091	Human	2	name
126743615	CV1017710	single nucleotide variant	NM_052867.4(NALCN):c.344T>A (p.Val115Asp)	Congenital contractures of the limbs and face, hypotonia, and developmental delay [RCV001330242]	uncertain significance	13	101378601	101378601	Human		name
150331743	CV1163588	single nucleotide variant	NM_052867.4(NALCN):c.4974C>T (p.Ala1658=)	not provided [RCV001527928]	likely benign	13	101057988	101057988	Human		name
150332092	CV1163589	duplication	NM_052867.4(NALCN):c.1138dup (p.Met380fs)	not provided [RCV001528075]	pathogenic	13	101258570	101258571	Human		name
150336132	CV1166073	single nucleotide variant	NM_052867.4(NALCN):c.829G>T (p.Ala277Ser)	Inborn genetic diseases [RCV005385120]\|not provided [RCV001531806]	uncertain significance	13	101292337	101292337	Human	1	name
151349325	CV1170280	deletion	NM_052867.4(NALCN):c.1514del (p.Lys505fs)	Abnormality of the nervous system [RCV001814522]	likely pathogenic	13	101229505	101229505	Human	2	name
150428443	CV1188015	single nucleotide variant	NM_052867.4(NALCN):c.3087C>T (p.Leu1029=)	not provided [RCV001562273]	likely benign	13	101100859	101100859	Human		name
150415365	CV1191491	single nucleotide variant	NM_052867.4(NALCN):c.5079G>A (p.Arg1693=)	not provided [RCV001567952]	likely benign	13	101055433	101055433	Human		name
150415444	CV1191496	single nucleotide variant	NM_052867.4(NALCN):c.722C>T (p.Pro241Leu)	not provided [RCV001567988]	conflicting interpretations of pathogenicity\|uncertain significance	13	101345343	101345343	Human		name
150422327	CV1194748	deletion	NM_052867.4(NALCN):c.3163-281_3163-275del	not provided [RCV001570992]	likely benign	13	101095955	101095961	Human		name
150418461	CV1198450	duplication	NM_052867.4(NALCN):c.1977-260_1977-258dup	not provided [RCV001576750]	likely benign	13	101143469	101143470	Human		name
150414913	CV1198452	deletion	NM_052867.4(NALCN):c.1134+171_1134+172del	not provided [RCV001575170]	likely benign	13	101283761	101283762	Human		name
150438354	CV1201391	single nucleotide variant	NM_052867.4(NALCN):c.476G>A (p.Arg159Gln)	not provided [RCV001583203]	uncertain significance	13	101376956	101376956	Human		name
150433638	CV1204148	single nucleotide variant	NM_052867.4(NALCN):c.4623C>T (p.Ser1541=)	not provided [RCV001581896]	likely benign	13	101062100	101062100	Human		name
150495777	CV1205901	deletion	NM_052867.4(NALCN):c.4604+225_4604+234del	not provided [RCV001593583]	likely benign	13	101065170	101065179	Human		name
150495856	CV1205921	single nucleotide variant	NM_052867.4(NALCN):c.3372T>C (p.Ile1124=)	not provided [RCV001593603]	likely benign	13	101089864	101089864	Human		name
150469268	CV1207543	single nucleotide variant	NM_052867.4(NALCN):c.359T>C (p.Val120Ala)	not provided [RCV001588232]	uncertain significance	13	101378586	101378586	Human		name
150481981	CV1209887	single nucleotide variant	NM_052867.4(NALCN):c.4209G>A (p.Pro1403=)	NALCN-related disorder [RCV004542040]\|not provided [RCV001590585]	likely benign	13	101068816	101068816	Human	1	name , alternate_id
150492518	CV1225490	duplication	NM_052867.4(NALCN):c.1977-260_1977-259dup	not provided [RCV001619005]	benign	13	101143469	101143470	Human		name
150507922	CV1244687	single nucleotide variant	NM_052867.4(NALCN):c.641C>A (p.Pro214Gln)	Inborn genetic diseases [RCV004651699]\|not provided [RCV001658936]	uncertain significance	13	101376703	101376703	Human	1	name
150464193	CV1252635	duplication	NM_052867.4(NALCN):c.4905+132_4905+133dup	not provided [RCV001669959]	benign	13	101059674	101059675	Human		name
150505725	CV1254688	deletion	NM_052867.4(NALCN):c.4756-306_4756-305del	not provided [RCV001677993]	benign	13	101060272	101060273	Human		name
150524346	CV1289099	single nucleotide variant	NM_052867.4(NALCN):c.500T>A (p.Ile167Asn)	Congenital contractures of the limbs and face, hypotonia, and developmental delay [RCV001725863]	likely pathogenic	13	101376932	101376932	Human	1	name
150552901	CV1295572	single nucleotide variant	NM_052867.4(NALCN):c.5127G>A (p.Ala1709=)	NALCN-related disorder [RCV004536286]\|not provided [RCV001768504]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	13	101055385	101055385	Human	1	name , alternate_id
152117065	CV1535203	single nucleotide variant	NM_052867.4(NALCN):c.4833G>A (p.Pro1611=)	not provided [RCV002097636]	likely benign	13	101059890	101059890	Human		name
152156782	CV1668738	single nucleotide variant	NM_052867.4(NALCN):c.3579C>T (p.Arg1193=)	not specified [RCV002222964]	likely benign	13	101083715	101083715	Human		name
152057842	CV1670644	single nucleotide variant	NM_052867.4(NALCN):c.428G>A (p.Arg143Gln)	not provided [RCV002226164]	uncertain significance	13	101377004	101377004	Human		name
152999091	CV1679528	single nucleotide variant	NM_052867.4(NALCN):c.454C>T (p.Arg152Ter)	Congenital contractures of the limbs and face, hypotonia, and developmental delay [RCV003235691]\|Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 [RCV002250917]	pathogenic	13	101376978	101376978	Human	2	name
152999598	CV1683191	duplication	NM_052867.4(NALCN):c.1959dup (p.Thr654fs)	See cases [RCV002252375]	likely pathogenic	13	101144776	101144777	Human		name
153302116	CV1688075	single nucleotide variant	NM_052867.4(NALCN):c.568C>T (p.Leu190Phe)	not provided [RCV002265301]	uncertain significance	13	101376776	101376776	Human		name
155265662	CV1695808	single nucleotide variant	NM_052867.4(NALCN):c.657G>C (p.Trp219Cys)	not provided [RCV002280540]	uncertain significance	13	101345408	101345408	Human		name
155645362	CV1710815	single nucleotide variant	NM_052867.4(NALCN):c.928G>A (p.Ala310Thr)	Congenital contractures of the limbs and face, hypotonia, and developmental delay [RCV002294596]	likely benign	13	101292238	101292238	Human	1	name
155749816	CV1772551	single nucleotide variant	NM_052867.4(NALCN):c.768A>C (p.Gln256His)	not provided [RCV002305050]	uncertain significance	13	101345297	101345297	Human		name
9854606	CV185669	single nucleotide variant	NM_052867.4(NALCN):c.530A>C (p.Gln177Pro)	Congenital contractures of the limbs and face, hypotonia, and developmental delay [RCV000167528]	pathogenic\|not provided	13	101376814	101376814	Human	1	name
9854607	CV185670	single nucleotide variant	NM_052867.4(NALCN):c.938T>G (p.Val313Gly)	Congenital contractures of the limbs and face, hypotonia, and developmental delay [RCV000167529]	pathogenic\|not provided	13	101292228	101292228	Human	1	name
155795926	CV1861569	single nucleotide variant	NM_052867.4(NALCN):c.518G>A (p.Arg173Gln)	Congenital contractures of the limbs and face, hypotonia, and developmental delay [RCV003234204]\|not provided [RCV002469852]	pathogenic\|likely pathogenic	13	101376826	101376826	Human	1	name
155801620	CV1866777	single nucleotide variant	NM_052867.4(NALCN):c.966T>G (p.Ile322Met)	not provided [RCV002505989]	likely pathogenic	13	101292071	101292071	Human		name
156256490	CV1894360	single nucleotide variant	NM_052867.4(NALCN):c.4461G>A (p.Thr1487=)	not provided [RCV003086293]	likely benign	13	101065547	101065547	Human		name
155957090	CV1915537	single nucleotide variant	NM_052867.4(NALCN):c.4773C>T (p.Cys1591=)	not provided [RCV002616534]	likely benign	13	101059950	101059950	Human		name
156356272	CV1917554	single nucleotide variant	NM_052867.4(NALCN):c.3846G>A (p.Ser1282=)	not provided [RCV002632357]	likely benign	13	101081566	101081566	Human		name
156309069	CV1924962	single nucleotide variant	NM_052867.4(NALCN):c.4728C>T (p.Leu1576=)	not provided [RCV002629652]	benign	13	101061995	101061995	Human		name
156390581	CV1964809	single nucleotide variant	NM_052867.4(NALCN):c.5187C>T (p.Asp1729=)	not provided [RCV002583832]	likely benign	13	101055325	101055325	Human		name
156420012	CV1979357	single nucleotide variant	NM_052867.4(NALCN):c.823G>A (p.Glu275Lys)	not provided [RCV002613261]	uncertain significance	13	101292343	101292343	Human		name
156399335	CV1982122	single nucleotide variant	NM_052867.4(NALCN):c.3183C>T (p.Phe1061=)	not provided [RCV002635819]	uncertain significance	13	101095660	101095660	Human		name
156248490	CV1988993	single nucleotide variant	NM_052867.4(NALCN):c.4455C>T (p.Ile1485=)	NALCN-related disorder [RCV004534152]\|not provided [RCV002627372]	likely benign	13	101065553	101065553	Human	1	name , alternate_id
156237319	CV1992399	single nucleotide variant	NM_052867.4(NALCN):c.3141T>C (p.Asn1047=)	not provided [RCV002627014]	likely benign	13	101100805	101100805	Human		name
156330472	CV1992807	single nucleotide variant	NM_052867.4(NALCN):c.4980A>T (p.Ala1660=)	not provided [RCV002649790]	likely benign	13	101057982	101057982	Human		name
156345647	CV1995181	single nucleotide variant	NM_052867.4(NALCN):c.3465T>A (p.Val1155=)	not provided [RCV002650559]	likely benign	13	101089687	101089687	Human		name
156120566	CV2004161	single nucleotide variant	NM_052867.4(NALCN):c.3309C>T (p.Asn1103=)	not provided [RCV002662839]	likely benign	13	101089927	101089927	Human		name
156209788	CV2042506	single nucleotide variant	NM_052867.4(NALCN):c.4686C>A (p.Thr1562=)	not provided [RCV002766551]	likely benign	13	101062037	101062037	Human		name
156117976	CV2055158	single nucleotide variant	NM_052867.4(NALCN):c.3387G>A (p.Gly1129=)	not provided [RCV002825185]\|not specified [RCV005059051]	likely benign	13	101089849	101089849	Human		name
156116531	CV2085047	single nucleotide variant	NM_052867.4(NALCN):c.3120T>A (p.Ala1040=)	not provided [RCV002889393]	likely benign	13	101100826	101100826	Human		name
156241968	CV2101493	single nucleotide variant	NM_052867.4(NALCN):c.3792G>A (p.Ser1264=)	not provided [RCV002894944]	likely benign	13	101081620	101081620	Human		name
156210593	CV2103281	single nucleotide variant	NM_052867.4(NALCN):c.700G>C (p.Glu234Gln)	Inborn genetic diseases [RCV002918146]\|not provided [RCV002900508]	uncertain significance	13	101345365	101345365	Human	1	name
156234082	CV2173227	single nucleotide variant	NM_052867.4(NALCN):c.755G>A (p.Gly252Glu)	not provided [RCV003059417]	uncertain significance	13	101345310	101345310	Human		name
11050665	CV223771	single nucleotide variant	NM_052867.4(NALCN):c.3390G>A (p.Pro1130=)	Seizure [RCV000210426]	pathogenic	13	101089846	101089846	Human	2	name
156093572	CV2309941	single nucleotide variant	NM_052867.4(NALCN):c.762C>A (p.Ser254Arg)	Inborn genetic diseases [RCV002888174]	uncertain significance	13	101345303	101345303	Human	1	name
11345378	CV237489	single nucleotide variant	NM_052867.4(NALCN):c.979G>A (p.Glu327Lys)	Congenital contractures of the limbs and face, hypotonia, and developmental delay [RCV000224921]	pathogenic	13	101292058	101292058	Human	1	name
11345366	CV237490	single nucleotide variant	NM_052867.4(NALCN):c.934C>A (p.Leu312Ile)	Congenital contractures of the limbs and face, hypotonia, and developmental delay [RCV000224612]	pathogenic	13	101292232	101292232	Human	1	name
243054036	CV2418388	single nucleotide variant	NM_052867.4(NALCN):c.902A>G (p.Tyr301Cys)	not provided [RCV003154421]	uncertain significance	13	101292264	101292264	Human		name
11542920	CV254774	single nucleotide variant	NM_052867.4(NALCN):c.4977C>T (p.Asp1659=)	NALCN-related disorder [RCV004529449]\|not provided [RCV000864225]	benign\|likely benign	13	101057985	101057985	Human	1	name , alternate_id
11550334	CV254775	single nucleotide variant	NM_052867.4(NALCN):c.4416A>C (p.Ile1472=)	not provided [RCV001723858]\|not specified [RCV000251616]	benign	13	101067948	101067948	Human		name
11543750	CV254777	single nucleotide variant	NM_052867.4(NALCN):c.3714C>T (p.Thr1238=)	Congenital contractures of the limbs and face, hypotonia, and developmental delay [RCV001778873]\|Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 [RCV001778872]\|not provided [RCV001723857]\|not specified [RCV000242875]	benign	13	101082860	101082860	Human	2	name
11549942	CV254778	single nucleotide variant	NM_052867.4(NALCN):c.3570T>C (p.Leu1190=)	Congenital contractures of the limbs and face, hypotonia, and developmental delay [RCV001778871]\|Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 [RCV001778870]\|not provided [RCV001689928]\|not specified [RCV000251083]	benign	13	101083724	101083724	Human	2	name
11546357	CV254779	single nucleotide variant	NM_052867.4(NALCN):c.3210C>T (p.Asn1070=)	not provided [RCV001689927]\|not specified [RCV000246356]	benign	13	101095633	101095633	Human		name
401758613	CV2694190	single nucleotide variant	NM_052867.4(NALCN):c.817G>A (p.Val273Ile)	Inborn genetic diseases [RCV003279822]	uncertain significance	13	101292349	101292349	Human	1	name
401828854	CV2743212	single nucleotide variant	NM_052867.4(NALCN):c.518G>C (p.Arg173Pro)	not provided [RCV003325921]	pathogenic\|likely pathogenic	13	101376826	101376826	Human		name
401829211	CV2743708	deletion	NM_052867.4(NALCN):c.2831del (p.Phe944fs)	not provided [RCV003326884]	pathogenic	13	101104353	101104353	Human		name
401857473	CV2750484	single nucleotide variant	NM_052867.4(NALCN):c.4665G>A (p.Ala1555=)	not provided [RCV003334157]	likely benign	13	101062058	101062058	Human		name
401883516	CV2785684	single nucleotide variant	NM_052867.4(NALCN):c.418G>A (p.Gly140Ser)	Inborn genetic diseases [RCV003386189]	uncertain significance	13	101377014	101377014	Human	1	name
401934114	CV2813983	single nucleotide variant	NM_052867.4(NALCN):c.3246T>C (p.Pro1082=)	not provided [RCV003410997]	likely benign	13	101095597	101095597	Human		name
405217190	CV2872665	single nucleotide variant	NM_052867.4(NALCN):c.457G>A (p.Ala153Thr)	not provided [RCV003553374]	uncertain significance	13	101376975	101376975	Human		name
405207154	CV2874107	single nucleotide variant	NM_052867.4(NALCN):c.4944G>A (p.Ser1648=)	not provided [RCV003552088]	likely benign	13	101058018	101058018	Human		name
402495459	CV2883770	single nucleotide variant	NM_052867.4(NALCN):c.4920G>A (p.Gln1640=)	not provided [RCV003573452]\|not specified [RCV004701724]	likely benign	13	101058042	101058042	Human		name
402514266	CV2936192	single nucleotide variant	NM_052867.4(NALCN):c.4194T>C (p.Cys1398=)	not provided [RCV003662816]	uncertain significance	13	101073587	101073587	Human		name
405230480	CV2964378	single nucleotide variant	NM_052867.4(NALCN):c.4128A>G (p.Gly1376=)	not provided [RCV003682167]	likely benign	13	101073653	101073653	Human		name
405022545	CV2992695	single nucleotide variant	NM_052867.4(NALCN):c.983T>C (p.Ile328Thr)	not provided [RCV003694818]	uncertain significance	13	101292054	101292054	Human		name
405091162	CV3025883	single nucleotide variant	NM_052867.4(NALCN):c.661A>G (p.Ser221Gly)	not provided [RCV003699744]	uncertain significance	13	101345404	101345404	Human		name
405235750	CV3040973	single nucleotide variant	NM_052867.4(NALCN):c.4014C>T (p.Ile1338=)	not provided [RCV003712328]	likely benign	13	101074603	101074603	Human		name
405090389	CV3044765	single nucleotide variant	NM_052867.4(NALCN):c.4842C>T (p.Ile1614=)	not provided [RCV003717776]	likely benign	13	101059881	101059881	Human		name
405217273	CV3048797	single nucleotide variant	NM_052867.4(NALCN):c.3960G>A (p.Thr1320=)	not provided [RCV003732815]	benign	13	101074657	101074657	Human		name
405243549	CV3053831	single nucleotide variant	NM_052867.4(NALCN):c.3273G>A (p.Ala1091=)	not provided [RCV003719762]	likely benign	13	101089963	101089963	Human		name
405211930	CV3063117	single nucleotide variant	NM_052867.4(NALCN):c.4461G>C (p.Thr1487=)	not provided [RCV003732134]	likely benign	13	101065547	101065547	Human		name
405212465	CV3063135	single nucleotide variant	NM_052867.4(NALCN):c.3573G>A (p.Pro1191=)	not provided [RCV003732144]	likely benign	13	101083721	101083721	Human		name
404998919	CV3120121	single nucleotide variant	NM_052867.4(NALCN):c.4578C>T (p.Gly1526=)	NALCN-related disorder [RCV004542290]\|not provided [RCV003827911]	likely benign	13	101065430	101065430	Human	1	name , alternate_id
405029106	CV3129880	single nucleotide variant	NM_052867.4(NALCN):c.3036C>T (p.Ser1012=)	NALCN-related disorder [RCV004542293]\|not provided [RCV003830478]	likely benign	13	101103193	101103193	Human	1	name , alternate_id
405110358	CV3133133	single nucleotide variant	NM_052867.4(NALCN):c.340A>G (p.Met114Val)	not provided [RCV003836119]	uncertain significance	13	101378605	101378605	Human		name
405107548	CV3136309	single nucleotide variant	NM_052867.4(NALCN):c.3294C>T (p.Phe1098=)	not provided [RCV003835655]	uncertain significance	13	101089942	101089942	Human		name
405049880	CV3137991	single nucleotide variant	NM_052867.4(NALCN):c.4680G>A (p.Glu1560=)	not provided [RCV003832029]	likely benign	13	101062043	101062043	Human		name
405055439	CV3138556	single nucleotide variant	NM_052867.4(NALCN):c.4770G>A (p.Ser1590=)	not provided [RCV003832401]	likely benign	13	101059953	101059953	Human		name
405067992	CV3145174	single nucleotide variant	NM_052867.4(NALCN):c.5077A>C (p.Arg1693=)	not provided [RCV003850756]	likely benign	13	101055435	101055435	Human		name
405138653	CV3155094	single nucleotide variant	NM_052867.4(NALCN):c.4140C>T (p.Thr1380=)	not provided [RCV003855332]	likely benign	13	101073641	101073641	Human		name
405135342	CV3160237	single nucleotide variant	NM_052867.4(NALCN):c.425T>C (p.Leu142Ser)	not provided [RCV003855052]	uncertain significance	13	101377007	101377007	Human		name
405235032	CV3168561	single nucleotide variant	NM_052867.4(NALCN):c.4047C>T (p.Tyr1349=)	not provided [RCV003866035]	likely benign	13	101074570	101074570	Human		name
405235641	CV3168684	single nucleotide variant	NM_052867.4(NALCN):c.359T>A (p.Val120Asp)	not provided [RCV003866158]	uncertain significance	13	101378586	101378586	Human		name
405226718	CV3169469	single nucleotide variant	NM_052867.4(NALCN):c.506A>G (p.Asn169Ser)	not provided [RCV003864493]	uncertain significance	13	101376926	101376926	Human		name
405255573	CV3172554	single nucleotide variant	NM_052867.4(NALCN):c.3909C>T (p.Gly1303=)	not provided [RCV003872492]	uncertain significance	13	101075918	101075918	Human		name
402470660	CV3175231	single nucleotide variant	NM_052867.4(NALCN):c.4350C>T (p.Phe1450=)	not provided [RCV003874163]	likely benign	13	101068014	101068014	Human		name
405778432	CV3324376	single nucleotide variant	NM_052867.4(NALCN):c.317G>A (p.Arg106His)	Inborn genetic diseases [RCV004471524]	uncertain significance	13	101378628	101378628	Human	1	name
405867400	CV3394349	single nucleotide variant	NM_052867.4(NALCN):c.707G>T (p.Gly236Val)	Congenital contractures of the limbs and face, hypotonia, and developmental delay [RCV004566466]	uncertain significance	13	101345358	101345358	Human	1	name
405855136	CV3395734	single nucleotide variant	NM_052867.4(NALCN):c.427C>T (p.Arg143Trp)	Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 [RCV004555997]	uncertain significance	13	101377005	101377005	Human	1	name
405867476	CV3396461	single nucleotide variant	NM_052867.4(NALCN):c.951T>G (p.Phe317Leu)	Congenital contractures of the limbs and face, hypotonia, and developmental delay [RCV004560339]	likely pathogenic	13	101292086	101292086	Human	1	name
407574540	CV3499551	single nucleotide variant	NM_052867.4(NALCN):c.934C>G (p.Leu312Val)	not provided [RCV004719546]	pathogenic	13	101292232	101292232	Human		name
408369668	CV3502829	single nucleotide variant	NM_052867.4(NALCN):c.729T>A (p.Phe243Leu)	not provided [RCV004723950]	uncertain significance	13	101345336	101345336	Human		name
408386317	CV3522459	single nucleotide variant	NM_052867.4(NALCN):c.685T>C (p.Cys229Arg)	not provided [RCV004767819]	uncertain significance	13	101345380	101345380	Human		name
408391363	CV3523162	single nucleotide variant	NM_052867.4(NALCN):c.830C>T (p.Ala277Val)	not provided [RCV004770534]	uncertain significance	13	101292336	101292336	Human		name
408388494	CV3529000	single nucleotide variant	NM_052867.4(NALCN):c.3690G>A (p.Lys1230=)	not provided [RCV004773822]	uncertain significance	13	101083092	101083092	Human		name
596925813	CV3530592	single nucleotide variant	NM_052867.4(NALCN):c.474C>G (p.Phe158Leu)	not provided [RCV004778177]	uncertain significance	13	101376958	101376958	Human		name
596927443	CV3536702	single nucleotide variant	NM_052867.4(NALCN):c.518G>T (p.Arg173Leu)	Congenital contractures of the limbs and face, hypotonia, and developmental delay [RCV004790112]	likely pathogenic	13	101376826	101376826	Human	1	name
11632438	CV353906	single nucleotide variant	NM_052867.4(NALCN):c.985A>G (p.Arg329Gly)	Congenital contractures of the limbs and face, hypotonia, and developmental delay [RCV000408614]	likely pathogenic	13	101292052	101292052	Human	1	name
596945742	CV3548045	single nucleotide variant	NM_052867.4(NALCN):c.4122G>C (p.Ser1374=)	not provided [RCV004809376]	likely benign	13	101073659	101073659	Human		name
596948122	CV3549202	single nucleotide variant	NM_052867.4(NALCN):c.968A>G (p.Glu323Gly)	not provided [RCV004812022]	likely pathogenic	13	101292069	101292069	Human		name
597632348	CV3552825	single nucleotide variant	NM_052867.4(NALCN):c.538A>G (p.Ser180Gly)	not provided [RCV004823653]	uncertain significance	13	101376806	101376806	Human		name
597632645	CV3552878	single nucleotide variant	NM_052867.4(NALCN):c.4125T>A (p.Ala1375=)	not provided [RCV004823708]	conflicting interpretations of pathogenicity\|uncertain significance	13	101073656	101073656	Human		name
12791772	CV362156	single nucleotide variant	NM_052867.4(NALCN):c.965T>C (p.Ile322Thr)	Congenital contractures of the limbs and face, hypotonia, and developmental delay [RCV000416463]\|Inborn genetic diseases [RCV002521493]\|not provided [RCV001092912]	pathogenic\|likely pathogenic	13	101292072	101292072	Human	2	name
597738642	CV3703546	single nucleotide variant	NM_052867.4(NALCN):c.869T>C (p.Ile290Thr)	Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 [RCV005013317]	uncertain significance	13	101292297	101292297	Human	1	name
597716423	CV3733264	single nucleotide variant	NM_052867.4(NALCN):c.463C>T (p.Arg155Trp)	not provided [RCV005052454]	uncertain significance	13	101376969	101376969	Human		name
597718890	CV3733458	single nucleotide variant	NM_052867.4(NALCN):c.484C>G (p.Leu162Val)	not provided [RCV005052648]	uncertain significance	13	101376948	101376948	Human		name
597832269	CV3740159	single nucleotide variant	NM_052867.4(NALCN):c.3300T>C (p.Asn1100=)	not provided [RCV005062858]	likely benign	13	101089936	101089936	Human		name
597917601	CV3741184	single nucleotide variant	NM_052867.4(NALCN):c.3933T>C (p.Phe1311=)	not provided [RCV005074331]	likely benign	13	101075894	101075894	Human		name
597965035	CV3751047	single nucleotide variant	NM_052867.4(NALCN):c.4395T>C (p.Asn1465=)	not provided [RCV005082609]	likely benign	13	101067969	101067969	Human		name
597966233	CV3751531	single nucleotide variant	NM_052867.4(NALCN):c.3069T>C (p.Leu1023=)	not provided [RCV005082900]	likely benign	13	101100877	101100877	Human		name
597957712	CV3755145	single nucleotide variant	NM_052867.4(NALCN):c.4830C>T (p.Asn1610=)	not provided [RCV005080815]	likely benign	13	101059893	101059893	Human		name
597945267	CV3755332	single nucleotide variant	NM_052867.4(NALCN):c.692C>G (p.Pro231Arg)	not provided [RCV005078341]	uncertain significance	13	101345373	101345373	Human		name
597910079	CV3782078	single nucleotide variant	NM_052867.4(NALCN):c.3921T>C (p.Ile1307=)	not provided [RCV005128570]	likely benign	13	101075906	101075906	Human		name
597895283	CV3806314	single nucleotide variant	NM_052867.4(NALCN):c.4482G>T (p.Leu1494=)	not provided [RCV005151897]	likely benign	13	101065526	101065526	Human		name
597898333	CV3806936	single nucleotide variant	NM_052867.4(NALCN):c.3846G>T (p.Ser1282=)	not provided [RCV005152323]	likely benign	13	101081566	101081566	Human		name
597879143	CV3813783	single nucleotide variant	NM_052867.4(NALCN):c.3231T>C (p.Pro1077=)	not provided [RCV005149525]	likely benign	13	101095612	101095612	Human		name
597958182	CV3814561	single nucleotide variant	NM_052867.4(NALCN):c.3666C>G (p.Ala1222=)	not provided [RCV005162892]	likely benign	13	101083116	101083116	Human		name
597971993	CV3833282	single nucleotide variant	NM_052867.4(NALCN):c.4575C>T (p.Gly1525=)	not provided [RCV005167179]	likely benign	13	101065433	101065433	Human		name
597963547	CV3837685	single nucleotide variant	NM_052867.4(NALCN):c.4071T>C (p.Phe1357=)	not provided [RCV005193667]	likely benign	13	101074546	101074546	Human		name
598123454	CV3884846	single nucleotide variant	NM_052867.4(NALCN):c.4341G>A (p.Val1447=)	not specified [RCV005238455]	likely benign	13	101068023	101068023	Human		name
598174543	CV3890899	single nucleotide variant	NM_052867.4(NALCN):c.402T>G (p.Asp134Glu)	not provided [RCV005251752]	uncertain significance	13	101377030	101377030	Human		name
598217633	CV3891485	single nucleotide variant	NM_052867.4(NALCN):c.320G>A (p.Trp107Ter)	Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 [RCV005252327]	likely pathogenic	13	101378625	101378625	Human	1	name
598205029	CV3987184	single nucleotide variant	NM_052867.4(NALCN):c.676G>A (p.Asp226Asn)	Inborn genetic diseases [RCV005376693]	uncertain significance	13	101345389	101345389	Human	1	name
617154269	CV4022695	single nucleotide variant	NM_052867.4(NALCN):c.524G>A (p.Gly175Glu)	not provided [RCV005430053]	uncertain significance	13	101376820	101376820	Human		name
13508974	CV482037	single nucleotide variant	NM_052867.4(NALCN):c.306T>G (p.Tyr102Ter)	not provided [RCV000578588]	pathogenic	13	101378639	101378639	Human		name
13529067	CV513615	single nucleotide variant	NM_052867.4(NALCN):c.410C>T (p.Ser137Leu)	Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 [RCV000626202]	uncertain significance	13	101377022	101377022	Human	1	name
13705237	CV536418	duplication	NM_052867.4(NALCN):c.1068dup (p.Gly357fs)	not provided [RCV000657549]	pathogenic	13	101283998	101283999	Human		name
13835528	CV586788	single nucleotide variant	NM_052867.4(NALCN):c.691C>T (p.Pro231Ser)	Inborn genetic diseases [RCV004027005]\|not provided [RCV000731359]	uncertain significance	13	101345374	101345374	Human	1	name
14396138	CV611780	single nucleotide variant	NM_052867.4(NALCN):c.475C>T (p.Arg159Ter)	not provided [RCV000760873]	likely pathogenic	13	101376957	101376957	Human		name
14746948	CV672271	deletion	NM_052867.4(NALCN):c.2758del (p.Ile920fs)	Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 [RCV000845227]	pathogenic	13	101104426	101104426	Human	1	name
14746939	CV672272	deletion	NM_052867.4(NALCN):c.2629del (p.Gln877fs)	Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 [RCV000845217]	pathogenic	13	101104901	101104901	Human	1	name
14746944	CV672273	duplication	NM_052867.4(NALCN):c.2435dup (p.Glu813fs)	Congenital contractures of the limbs and face, hypotonia, and developmental delay [RCV001252584]\|Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 [RCV000845222]	pathogenic	13	101107718	101107719	Human	2	name
14746947	CV672275	single nucleotide variant	NM_052867.4(NALCN):c.321G>A (p.Trp107Ter)	Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 [RCV000845226]	pathogenic	13	101378624	101378624	Human	1	name
15040421	CV680109	single nucleotide variant	NM_052867.4(NALCN):c.950T>G (p.Phe317Cys)	Fetal akinesia deformation sequence 1 [RCV000855467]	likely pathogenic	13	101292087	101292087	Human	3	name
15138315	CV693314	single nucleotide variant	NM_052867.4(NALCN):c.4581C>T (p.Asp1527=)	NALCN-related disorder [RCV004530865]\|not provided [RCV000877139]	benign\|likely benign	13	101065427	101065427	Human	1	name , alternate_id
15139366	CV693315	single nucleotide variant	NM_052867.4(NALCN):c.3852C>A (p.Gly1284=)	NALCN-related disorder [RCV004530867]\|not provided [RCV000877305]	likely benign\|conflicting interpretations of pathogenicity	13	101081560	101081560	Human	1	name , alternate_id
15125341	CV693316	single nucleotide variant	NM_052867.4(NALCN):c.3735A>G (p.Ser1245=)	Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 [RCV002501337]\|not provided [RCV000874934]	benign\|likely benign	13	101082839	101082839	Human	1	name
15113909	CV693317	single nucleotide variant	NM_052867.4(NALCN):c.3138C>T (p.Cys1046=)	NALCN-related disorder [RCV004740474]\|not provided [RCV000872842]	benign\|likely benign	13	101100808	101100808	Human	1	name , alternate_id
15187138	CV702564	single nucleotide variant	NM_052867.4(NALCN):c.3552C>T (p.Ile1184=)	not provided [RCV000953497]	likely benign	13	101083742	101083742	Human		name
15105672	CV713804	single nucleotide variant	NM_052867.4(NALCN):c.3354G>A (p.Val1118=)	NALCN-related disorder [RCV004533705]\|not provided [RCV000959931]	likely benign	13	101089882	101089882	Human	1	name , alternate_id
15139224	CV713805	single nucleotide variant	NM_052867.4(NALCN):c.883C>T (p.Arg295Cys)	Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 [RCV000985034]\|not provided [RCV000965928]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	13	101292283	101292283	Human	1	name
15167396	CV725333	single nucleotide variant	NM_052867.4(NALCN):c.3972C>T (p.Leu1324=)	not provided [RCV000882839]	likely benign	13	101074645	101074645	Human		name
15198175	CV725334	single nucleotide variant	NM_052867.4(NALCN):c.3828C>T (p.Tyr1276=)	not provided [RCV000890276]	likely benign	13	101081584	101081584	Human		name
15178624	CV738911	single nucleotide variant	NM_052867.4(NALCN):c.4869G>A (p.Thr1623=)	not provided [RCV000906920]	likely benign	13	101059854	101059854	Human		name
15145256	CV753659	single nucleotide variant	NM_052867.4(NALCN):c.5094T>C (p.Ser1698=)	not provided [RCV000922511]	likely benign	13	101055418	101055418	Human		name
15114087	CV753660	single nucleotide variant	NM_052867.4(NALCN):c.4995G>A (p.Arg1665=)	not provided [RCV000917211]	likely benign	13	101057967	101057967	Human		name
15137031	CV753661	single nucleotide variant	NM_052867.4(NALCN):c.4107T>C (p.His1369=)	not provided [RCV000921102]	likely benign	13	101073674	101073674	Human		name
15112415	CV753662	single nucleotide variant	NM_052867.4(NALCN):c.3762G>C (p.Leu1254=)	not provided [RCV000916906]	likely benign	13	101082812	101082812	Human		name
15129215	CV753663	single nucleotide variant	NM_052867.4(NALCN):c.3495G>A (p.Thr1165=)	NALCN-related disorder [RCV004533536]\|not provided [RCV000919788]	likely benign	13	101083799	101083799	Human	1	name , alternate_id
15103444	CV784512	single nucleotide variant	NM_052867.4(NALCN):c.3726A>C (p.Ala1242=)	not provided [RCV000976019]	likely benign	13	101082848	101082848	Human		name
21068875	CV788873	duplication	NM_052867.4(NALCN):c.2831dup (p.Thr945fs)	Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 [RCV000985052]	likely pathogenic	13	101104352	101104353	Human	1	name
21074402	CV796888	single nucleotide variant	NM_052867.4(NALCN):c.3843G>A (p.Thr1281=)	not provided [RCV000995073]	conflicting interpretations of pathogenicity\|uncertain significance	13	101081569	101081569	Human		name
21404474	CV802182	deletion	NM_052867.4(NALCN):c.2671del (p.Val891fs)	Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 [RCV001004862]	likely pathogenic	13	101104616	101104616	Human	1	name
28897432	CV860021	single nucleotide variant	NM_052867.4(NALCN):c.884G>A (p.Arg295His)	NALCN-related disorder [RCV004740564]\|not provided [RCV001092913]\|not specified [RCV003994209]	uncertain significance	13	101292282	101292282	Human	1	name , alternate_id
8639007	CV94266	deletion	NM_052867.4(NALCN):c.1489del (p.Tyr497fs)	Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 [RCV000074369]\|not provided [RCV000414660]	pathogenic	13	101229530	101229530	Human	1	name
40886931	CV973885	single nucleotide variant	NM_052867.4(NALCN):c.986G>C (p.Arg329Thr)	Inborn genetic diseases [RCV001266253]	likely pathogenic	13	101292051	101292051	Human	1	name
40887813	CV973886	single nucleotide variant	NM_052867.4(NALCN):c.679A>G (p.Thr227Ala)	Inborn genetic diseases [RCV001267395]	uncertain significance	13	101345386	101345386	Human	1	name
42723422	CV984387	single nucleotide variant	NM_052867.4(NALCN):c.682C>T (p.His228Tyr)	Autism spectrum disorder [RCV001291264]	association	13	101345383	101345383	Human	2	name
126743605	CV1017708	single nucleotide variant	NM_052867.4(NALCN):c.2786T>C (p.Met929Thr)	Congenital contractures of the limbs and face, hypotonia, and developmental delay [RCV001330240]	uncertain significance	13	101104398	101104398	Human	1	name
127261786	CV1087368	deletion	NM_052867.4(NALCN):c.1267-924_1434+2024del	Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 [RCV001420664]	likely pathogenic	13	101235731	101238846	Human	1	name
127330740	CV1123075	single nucleotide variant	NM_052867.4(NALCN):c.2266G>A (p.Val756Met)	Inborn genetic diseases [RCV002561953]\|not provided [RCV001471087]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	13	101111153	101111153	Human	1	name
150336130	CV1166072	single nucleotide variant	NM_052867.4(NALCN):c.1807G>C (p.Glu603Gln)	not provided [RCV001531805]	uncertain significance	13	101176332	101176332	Human		name
151348887	CV1170281	single nucleotide variant	NM_052867.4(NALCN):c.1313G>A (p.Trp438Ter)	Abnormality of the nervous system [RCV001814347]	pathogenic	13	101237876	101237876	Human	2	name
150337640	CV1172507	single nucleotide variant	NM_052867.4(NALCN):c.1622C>T (p.Pro541Leu)	Congenital contractures of the limbs and face, hypotonia, and developmental delay [RCV004785269]\|not provided [RCV001541778]	uncertain significance	13	101229397	101229397	Human	1	name
150423212	CV1184787	single nucleotide variant	NM_052867.4(NALCN):c.1517T>A (p.Leu506His)	not provided [RCV001555019]	likely pathogenic	13	101229502	101229502	Human		name
150413146	CV1191494	single nucleotide variant	NM_052867.4(NALCN):c.2524C>T (p.Arg842Ter)	not provided [RCV001567115]	pathogenic\|likely pathogenic	13	101107542	101107542	Human		name
150417932	CV1194751	single nucleotide variant	NM_052867.4(NALCN):c.1197C>G (p.Ile399Met)	Inborn genetic diseases [RCV003161109]\|not provided [RCV001568988]	uncertain significance	13	101258512	101258512	Human	1	name
150412791	CV1198449	single nucleotide variant	NM_052867.4(NALCN):c.2307T>G (p.His769Gln)	Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 [RCV001825005]\|Inborn genetic diseases [RCV004651692]\|not provided [RCV001574436]	conflicting interpretations of pathogenicity\|uncertain significance\|not provided	13	101110676	101110676	Human	2	name
150449211	CV1202411	single nucleotide variant	NM_052867.4(NALCN):c.2579C>T (p.Ala860Val)	not provided [RCV001585008]	uncertain significance	13	101107487	101107487	Human		name
150486173	CV1203257	single nucleotide variant	NM_052867.4(NALCN):c.1888C>T (p.Arg630Cys)	not provided [RCV001591435]	uncertain significance	13	101144848	101144848	Human		name
150434370	CV1243934	single nucleotide variant	NM_052867.4(NALCN):c.1937T>C (p.Ile646Thr)	Inborn genetic diseases [RCV003161154]\|not provided [RCV001665141]	uncertain significance	13	101144799	101144799	Human	1	name
150435078	CV1244325	single nucleotide variant	NM_052867.4(NALCN):c.2767T>A (p.Tyr923Asn)	Inborn genetic diseases [RCV002538543]\|not provided [RCV001665316]	uncertain significance	13	101104417	101104417	Human	1	name
151813198	CV1281866	single nucleotide variant	NM_052867.4(NALCN):c.1838A>G (p.Gln613Arg)	Congenital contractures of the limbs and face, hypotonia, and developmental delay [RCV001868410]	likely pathogenic	13	101176301	101176301	Human	1	name
150551103	CV1292501	single nucleotide variant	NM_052867.4(NALCN):c.1895G>A (p.Arg632Gln)	not provided [RCV001754108]	uncertain significance	13	101144841	101144841	Human		name
150529594	CV1292876	single nucleotide variant	NM_052867.4(NALCN):c.1316G>A (p.Cys439Tyr)	not provided [RCV001756269]	uncertain significance	13	101237873	101237873	Human		name
150548942	CV1294600	single nucleotide variant	NM_052867.4(NALCN):c.2570G>T (p.Arg857Leu)	not provided [RCV001752092]	uncertain significance	13	101107496	101107496	Human		name
150549249	CV1294773	single nucleotide variant	NM_052867.4(NALCN):c.1730T>C (p.Ile577Thr)	not provided [RCV001752265]	uncertain significance	13	101191951	101191951	Human		name
150555376	CV1297833	single nucleotide variant	NM_052867.4(NALCN):c.2384A>T (p.Tyr795Phe)	not provided [RCV001772741]	uncertain significance	13	101107770	101107770	Human		name
150553031	CV1298042	single nucleotide variant	NM_052867.4(NALCN):c.2966G>C (p.Arg989Pro)	not provided [RCV001768655]	uncertain significance	13	101103263	101103263	Human		name
150540785	CV1298510	single nucleotide variant	NM_052867.4(NALCN):c.1109A>G (p.Gln370Arg)	not provided [RCV001760658]\|not specified [RCV004782781]	uncertain significance	13	101283958	101283958	Human		name
150545730	CV1298854	single nucleotide variant	NM_052867.4(NALCN):c.1717C>T (p.Pro573Ser)	Inborn genetic diseases [RCV004953029]\|not provided [RCV001763120]	uncertain significance	13	101191964	101191964	Human	1	name
150549446	CV1299455	single nucleotide variant	NM_052867.4(NALCN):c.1280T>C (p.Val427Ala)	NALCN-related disorder [RCV004542104]\|not provided [RCV001752381]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	13	101237909	101237909	Human	1	name , alternate_id
150549762	CV1299641	single nucleotide variant	NM_052867.4(NALCN):c.1139T>C (p.Met380Thr)	not provided [RCV001752567]	uncertain significance	13	101258570	101258570	Human		name
150552273	CV1301216	single nucleotide variant	NM_052867.4(NALCN):c.2212A>T (p.Met738Leu)	not provided [RCV001767626]	uncertain significance	13	101111207	101111207	Human		name
150528164	CV1301697	single nucleotide variant	NM_052867.4(NALCN):c.1195A>G (p.Ile399Val)	not provided [RCV001755069]	uncertain significance	13	101258514	101258514	Human		name
150547861	CV1303811	single nucleotide variant	NM_052867.4(NALCN):c.2738T>G (p.Met913Arg)	not provided [RCV001763914]	uncertain significance	13	101104549	101104549	Human		name
150553672	CV1303995	single nucleotide variant	NM_052867.4(NALCN):c.2050A>T (p.Thr684Ser)	Inborn genetic diseases [RCV005382176]\|not provided [RCV001769380]	conflicting interpretations of pathogenicity\|uncertain significance	13	101143148	101143148	Human	1	name
150555590	CV1304739	single nucleotide variant	NM_052867.4(NALCN):c.1545C>A (p.Ser515Arg)	not provided [RCV001772987]	uncertain significance	13	101229474	101229474	Human		name
150550818	CV1305225	single nucleotide variant	NM_052867.4(NALCN):c.2675T>A (p.Met892Lys)	not provided [RCV001766005]	uncertain significance	13	101104612	101104612	Human		name
150555795	CV1305277	single nucleotide variant	NM_052867.4(NALCN):c.2174C>T (p.Ala725Val)	Inborn genetic diseases [RCV004040300]\|not provided [RCV001773210]	uncertain significance	13	101124626	101124626	Human	1	name
150555925	CV1305430	single nucleotide variant	NM_052867.4(NALCN):c.2929C>T (p.Pro977Ser)	not provided [RCV001773363]	uncertain significance	13	101103300	101103300	Human		name
150544063	CV1310153	single nucleotide variant	NM_052867.4(NALCN):c.1658A>G (p.Gln553Arg)	Congenital contractures of the limbs and face, hypotonia, and developmental delay [RCV001771781]	uncertain significance	13	101192023	101192023	Human	1	name
150546160	CV1313610	single nucleotide variant	NM_052867.4(NALCN):c.1894C>T (p.Arg632Ter)	Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 [RCV002478009]\|See cases [RCV002252705]\|not provided [RCV001784707]	pathogenic\|likely pathogenic	13	101144842	101144842	Human	1	name
150548301	CV1316205	duplication	NM_052867.4(NALCN):c.3243dup (p.Pro1082fs)	not provided [RCV001786006]	likely pathogenic	13	101095599	101095600	Human		name
150548325	CV1316229	single nucleotide variant	NM_052867.4(NALCN):c.1550T>G (p.Leu517Trp)	not provided [RCV001786030]	likely pathogenic\|uncertain significance	13	101229469	101229469	Human		name
151233605	CV1317151	single nucleotide variant	NM_052867.4(NALCN):c.2281C>T (p.Arg761Cys)	not provided [RCV001786972]	uncertain significance	13	101111138	101111138	Human		name
151234575	CV1320344	single nucleotide variant	NM_052867.4(NALCN):c.2101A>G (p.Lys701Glu)	not provided [RCV001799968]	uncertain significance	13	101143097	101143097	Human		name
151351822	CV1322005	single nucleotide variant	NM_052867.4(NALCN):c.2371A>C (p.Asn791His)	not provided [RCV001806675]	uncertain significance	13	101107783	101107783	Human		name
151354352	CV1329485	single nucleotide variant	NM_052867.4(NALCN):c.1631T>C (p.Phe544Ser)	not specified [RCV001817848]	uncertain significance	13	101192050	101192050	Human		name
151746657	CV1485229	single nucleotide variant	NM_052867.4(NALCN):c.1813G>A (p.Asp605Asn)	not provided [RCV002006383]	uncertain significance	13	101176326	101176326	Human		name
151730582	CV1517887	deletion	NM_052867.4(NALCN):c.4355del (p.Leu1452fs)	Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 [RCV002052429]	likely pathogenic	13	101068009	101068009	Human	1	name
153000353	CV1683670	single nucleotide variant	NM_052867.4(NALCN):c.2154C>A (p.Asn718Lys)	not provided [RCV002254125]	uncertain significance	13	101124646	101124646	Human		name
153001448	CV1684149	single nucleotide variant	NM_052867.4(NALCN):c.2774T>G (p.Phe925Cys)	not provided [RCV002255076]	uncertain significance	13	101104410	101104410	Human		name
153304384	CV1690733	single nucleotide variant	NM_052867.4(NALCN):c.2914A>T (p.Met972Leu)	not provided [RCV002269777]	uncertain significance	13	101103315	101103315	Human		name
153346651	CV1691087	single nucleotide variant	NM_052867.4(NALCN):c.1789G>A (p.Val597Ile)	Congenital contractures of the limbs and face, hypotonia, and developmental delay [RCV002271994]	pathogenic	13	101176350	101176350	Human	1	name
155266944	CV1699361	single nucleotide variant	NM_052867.4(NALCN):c.2969G>T (p.Cys990Phe)	not provided [RCV002283156]	uncertain significance	13	101103260	101103260	Human		name
155266975	CV1699370	single nucleotide variant	NM_052867.4(NALCN):c.2090T>C (p.Ile697Thr)	not provided [RCV002283165]	uncertain significance	13	101143108	101143108	Human		name
155266987	CV1699373	single nucleotide variant	NM_052867.4(NALCN):c.2551C>T (p.Arg851Trp)	not provided [RCV002283168]	uncertain significance	13	101107515	101107515	Human		name
155268226	CV1705303	single nucleotide variant	NM_052867.4(NALCN):c.2204G>A (p.Arg735Gln)	not provided [RCV002285908]	uncertain significance	13	101111215	101111215	Human		name
155268834	CV1705661	single nucleotide variant	NM_052867.4(NALCN):c.1312T>C (p.Trp438Arg)	not provided [RCV002286268]	uncertain significance	13	101237877	101237877	Human		name
155725217	CV1773134	single nucleotide variant	NM_052867.4(NALCN):c.2839A>G (p.Thr947Ala)	not provided [RCV002296846]	uncertain significance	13	101104345	101104345	Human		name
155717082	CV1775406	single nucleotide variant	NM_052867.4(NALCN):c.1907A>C (p.Lys636Thr)	not provided [RCV002301096]	uncertain significance	13	101144829	101144829	Human		name
9854608	CV185671	single nucleotide variant	NM_052867.4(NALCN):c.1768C>T (p.Leu590Phe)	Congenital contractures of the limbs and face, hypotonia, and developmental delay [RCV000167530]	pathogenic\|not provided	13	101176371	101176371	Human	1	name
9854609	CV185672	single nucleotide variant	NM_052867.4(NALCN):c.1526T>C (p.Leu509Ser)	Congenital contractures of the limbs and face, hypotonia, and developmental delay [RCV000167531]	pathogenic\|not provided	13	101229493	101229493	Human	1	name
9854610	CV185673	single nucleotide variant	NM_052867.4(NALCN):c.1733A>C (p.Tyr578Ser)	Congenital contractures of the limbs and face, hypotonia, and developmental delay [RCV000167532]\|not provided [RCV000483507]	pathogenic\|not provided	13	101191948	101191948	Human	1	name
155803699	CV1858265	single nucleotide variant	NM_052867.4(NALCN):c.1303C>A (p.Leu435Met)	not provided [RCV002462574]	uncertain significance	13	101237886	101237886	Human		name
155795444	CV1861303	single nucleotide variant	NM_052867.4(NALCN):c.1013C>T (p.Ser338Leu)	not provided [RCV002469585]	uncertain significance	13	101292024	101292024	Human		name
155800436	CV1863585	single nucleotide variant	NM_052867.4(NALCN):c.1216T>G (p.Tyr406Asp)	Inborn genetic diseases [RCV004064253]\|not provided [RCV002474008]	uncertain significance	13	101258493	101258493	Human	1	name
156052671	CV1867761	single nucleotide variant	NM_052867.4(NALCN):c.2506C>A (p.Pro836Thr)	not provided [RCV002510234]	uncertain significance	13	101107560	101107560	Human		name
156294464	CV1892270	single nucleotide variant	NM_052867.4(NALCN):c.2723C>T (p.Pro908Leu)	not provided [RCV003061599]	uncertain significance	13	101104564	101104564	Human		name
156382158	CV1925226	single nucleotide variant	NM_052867.4(NALCN):c.1186G>A (p.Val396Met)	not provided [RCV002634354]	uncertain significance	13	101258523	101258523	Human		name
156295744	CV1955283	single nucleotide variant	NM_052867.4(NALCN):c.1322G>A (p.Gly441Glu)	Inborn genetic diseases [RCV003164818]\|not provided [RCV002578003]	uncertain significance	13	101237867	101237867	Human	1	name
156414606	CV1986770	single nucleotide variant	NM_052867.4(NALCN):c.2723C>G (p.Pro908Arg)	not provided [RCV002609281]	uncertain significance	13	101104564	101104564	Human		name
156201983	CV2004206	single nucleotide variant	NM_052867.4(NALCN):c.2005C>T (p.Arg669Cys)	not provided [RCV002666527]	uncertain significance	13	101143193	101143193	Human		name
156240693	CV2043586	single nucleotide variant	NM_052867.4(NALCN):c.2813T>A (p.Met938Lys)	not provided [RCV002805666]	uncertain significance	13	101104371	101104371	Human		name
155936752	CV2045878	single nucleotide variant	NM_052867.4(NALCN):c.2177T>C (p.Val726Ala)	not provided [RCV002751515]	uncertain significance	13	101124623	101124623	Human		name
156028441	CV2049053	single nucleotide variant	NM_052867.4(NALCN):c.1172T>C (p.Leu391Pro)	Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 [RCV002795944]	uncertain significance	13	101258537	101258537	Human	1	name
156339640	CV2055287	single nucleotide variant	NM_052867.4(NALCN):c.1802A>C (p.Asn601Thr)	not provided [RCV002811128]	uncertain significance	13	101176337	101176337	Human		name
156025667	CV2055806	single nucleotide variant	NM_052867.4(NALCN):c.1616C>T (p.Thr539Met)	not provided [RCV002820833]	uncertain significance	13	101229403	101229403	Human		name
156178741	CV2061287	single nucleotide variant	NM_052867.4(NALCN):c.1314G>A (p.Trp438Ter)	not provided [RCV002802189]	pathogenic	13	101237875	101237875	Human		name
156150215	CV2091039	single nucleotide variant	NM_052867.4(NALCN):c.2122C>T (p.Arg708Cys)	Inborn genetic diseases [RCV003167873]\|NALCN-related disorder [RCV004741337]\|not provided [RCV002890627]	uncertain significance	13	101124678	101124678	Human	2	name , alternate_id
156348127	CV2146713	single nucleotide variant	NM_052867.4(NALCN):c.2333G>A (p.Arg778Lys)	not provided [RCV003030675]\|not specified [RCV004801268]	uncertain significance	13	101110650	101110650	Human		name
155933767	CV2153332	single nucleotide variant	NM_052867.4(NALCN):c.1249G>A (p.Glu417Lys)	Inborn genetic diseases [RCV004068564]\|not provided [RCV003013790]	uncertain significance	13	101258460	101258460	Human	1	name
155949537	CV2164833	single nucleotide variant	NM_052867.4(NALCN):c.1726G>A (p.Ala576Thr)	not provided [RCV003032357]	uncertain significance	13	101191955	101191955	Human		name
156394399	CV2181809	single nucleotide variant	NM_052867.4(NALCN):c.2222G>T (p.Gly741Val)	not provided [RCV003051695]	uncertain significance	13	101111197	101111197	Human		name
156055865	CV2192703	single nucleotide variant	NM_052867.4(NALCN):c.2738T>A (p.Met913Lys)	not provided [RCV003037075]	uncertain significance	13	101104549	101104549	Human		name
156228196	CV2212941	single nucleotide variant	NM_052867.4(NALCN):c.2729G>A (p.Arg910Gln)	Inborn genetic diseases [RCV002712579]	uncertain significance	13	101104558	101104558	Human	1	name
156329483	CV2216422	single nucleotide variant	NM_052867.4(NALCN):c.2027G>T (p.Cys676Phe)	Inborn genetic diseases [RCV002717816]	uncertain significance	13	101143171	101143171	Human	1	name
156143150	CV2268773	single nucleotide variant	NM_052867.4(NALCN):c.2024G>A (p.Cys675Tyr)	Inborn genetic diseases [RCV002826327]	uncertain significance	13	101143174	101143174	Human	1	name
11060005	CV226935	single nucleotide variant	NM_052867.4(NALCN):c.2203C>T (p.Arg735Ter)	Congenital contractures of the limbs and face, hypotonia, and developmental delay [RCV003984831]\|Inborn genetic diseases [RCV000210615]\|not provided [RCV003238738]	pathogenic	13	101111216	101111216	Human	2	name
155965619	CV2308529	single nucleotide variant	NM_052867.4(NALCN):c.1183A>G (p.Thr395Ala)	Inborn genetic diseases [RCV002906448]	uncertain significance	13	101258526	101258526	Human	1	name
11345377	CV237487	single nucleotide variant	NM_052867.4(NALCN):c.1538C>A (p.Thr513Asn)	Congenital contractures of the limbs and face, hypotonia, and developmental delay [RCV000224900]	pathogenic	13	101229481	101229481	Human	1	name
11345351	CV237488	single nucleotide variant	NM_052867.4(NALCN):c.1534T>G (p.Phe512Val)	Congenital contractures of the limbs and face, hypotonia, and developmental delay [RCV000224242]	pathogenic	13	101229485	101229485	Human	1	name
156200000	CV2392330	single nucleotide variant	NM_052867.4(NALCN):c.2749A>G (p.Thr917Ala)	Inborn genetic diseases [RCV002789709]	uncertain significance	13	101104538	101104538	Human	1	name
156448919	CV2402339	single nucleotide variant	NM_052867.4(NALCN):c.2291G>A (p.Arg764His)	Inborn genetic diseases [RCV003162182]\|not provided [RCV003120498]	uncertain significance	13	101111128	101111128	Human	1	name
243051651	CV2404023	single nucleotide variant	NM_052867.4(NALCN):c.1640T>C (p.Met547Thr)	not provided [RCV003129070]	likely pathogenic	13	101192041	101192041	Human		name
243052258	CV2404345	single nucleotide variant	NM_052867.4(NALCN):c.2890G>A (p.Val964Met)	not provided [RCV003129371]	uncertain significance	13	101103339	101103339	Human		name
243057289	CV2410595	single nucleotide variant	NM_052867.4(NALCN):c.2195C>T (p.Ala732Val)	not provided [RCV003132827]	uncertain significance	13	101111224	101111224	Human		name
243056737	CV2410597	single nucleotide variant	NM_052867.4(NALCN):c.2762C>G (p.Ala921Gly)	not provided [RCV003132828]	uncertain significance	13	101104422	101104422	Human		name
243056748	CV2410598	single nucleotide variant	NM_052867.4(NALCN):c.2123G>A (p.Arg708His)	not provided [RCV003132829]	uncertain significance	13	101124677	101124677	Human		name
243056756	CV2410599	single nucleotide variant	NM_052867.4(NALCN):c.2089A>G (p.Ile697Val)	not provided [RCV003132830]	uncertain significance	13	101143109	101143109	Human		name
243059768	CV2412562	duplication	NM_052867.4(NALCN):c.4591dup (p.His1531fs)	not provided [RCV003135328]	likely pathogenic	13	101065416	101065417	Human		name
243050232	CV2417361	single nucleotide variant	NM_052867.4(NALCN):c.2939C>T (p.Ser980Leu)	not provided [RCV003152233]	uncertain significance	13	101103290	101103290	Human		name
243054170	CV2418465	single nucleotide variant	NM_052867.4(NALCN):c.1720G>A (p.Val574Met)	not provided [RCV003154479]	uncertain significance	13	101191961	101191961	Human		name
13211121	CV249192	single nucleotide variant	NM_052867.4(NALCN):c.1745A>C (p.Tyr582Ser)	not provided [RCV000497530]	likely pathogenic	13	101191936	101191936	Human		name
13211245	CV249193	single nucleotide variant	NM_052867.4(NALCN):c.1733A>G (p.Tyr578Cys)	Congenital contractures of the limbs and face, hypotonia, and developmental delay [RCV001254037]\|not provided [RCV000498669]	pathogenic\|likely pathogenic	13	101191948	101191948	Human	1	name
329848799	CV2523547	single nucleotide variant	NM_052867.4(NALCN):c.1450C>T (p.Arg484Trp)	not provided [RCV003225561]	uncertain significance	13	101229569	101229569	Human		name
329847721	CV2524469	single nucleotide variant	NM_052867.4(NALCN):c.2576A>G (p.Asn859Ser)	not provided [RCV003227361]	uncertain significance	13	101107490	101107490	Human		name
329846744	CV2534197	single nucleotide variant	NM_052867.4(NALCN):c.2552G>A (p.Arg851Gln)	not provided [RCV003228404]	uncertain significance	13	101107514	101107514	Human		name
329846800	CV2534211	single nucleotide variant	NM_052867.4(NALCN):c.1497A>G (p.Ile499Met)	not provided [RCV003228418]	likely pathogenic	13	101229522	101229522	Human		name
11552198	CV254783	single nucleotide variant	NM_052867.4(NALCN):c.2305C>T (p.His769Tyr)	not provided [RCV001683130]\|not specified [RCV000254055]	benign	13	101110678	101110678	Human		name
329953702	CV2670428	single nucleotide variant	NM_052867.4(NALCN):c.2045C>T (p.Pro682Leu)	Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 [RCV003234732]\|not provided [RCV003669368]	uncertain significance	13	101143153	101143153	Human	1	name
401778529	CV2709224	single nucleotide variant	NM_052867.4(NALCN):c.2723C>A (p.Pro908Gln)	Inborn genetic diseases [RCV003287098]	uncertain significance	13	101104564	101104564	Human	1	name
401799005	CV2741580	single nucleotide variant	NM_052867.4(NALCN):c.1745A>G (p.Tyr582Cys)	not provided [RCV003322988]	pathogenic	13	101191936	101191936	Human		name
401827966	CV2744336	single nucleotide variant	NM_052867.4(NALCN):c.1759A>G (p.Thr587Ala)	not provided [RCV003327733]	likely pathogenic	13	101191922	101191922	Human		name
401827986	CV2744357	single nucleotide variant	NM_052867.4(NALCN):c.2482G>A (p.Glu828Lys)	not provided [RCV003327754]	uncertain significance	13	101107584	101107584	Human		name
401870636	CV2749391	single nucleotide variant	NM_052867.4(NALCN):c.2720C>A (p.Ser907Tyr)	not provided [RCV003332519]	uncertain significance	13	101104567	101104567	Human		name
401872980	CV2751990	single nucleotide variant	NM_052867.4(NALCN):c.1245C>A (p.Tyr415Ter)	NALCN-related disorder [RCV003335867]\|not provided [RCV005103968]	pathogenic	13	101258464	101258464	Human	1	name , alternate_id
401855566	CV2752984	single nucleotide variant	NM_052867.4(NALCN):c.2374A>G (p.Thr792Ala)	Congenital contractures of the limbs and face, hypotonia, and developmental delay [RCV003338039]	uncertain significance	13	101107780	101107780	Human	1	name
401897320	CV2790018	single nucleotide variant	NM_052867.4(NALCN):c.1809A>C (p.Glu603Asp)	Inborn genetic diseases [RCV003374940]	uncertain significance	13	101176330	101176330	Human	1	name
401923341	CV2803177	single nucleotide variant	NM_052867.4(NALCN):c.1751T>G (p.Leu584Arg)	NALCN-related disorder [RCV004527970]\|not provided [RCV004818336]	uncertain significance	13	101191930	101191930	Human	1	name , alternate_id
401909365	CV2803799	single nucleotide variant	NM_052867.4(NALCN):c.1315T>G (p.Cys439Gly)	NALCN-related disorder [RCV004528744]\|not provided [RCV004765826]	uncertain significance	13	101237874	101237874	Human	1	name , alternate_id
401912739	CV2829966	single nucleotide variant	NM_052867.4(NALCN):c.2640T>G (p.Asp880Glu)	not provided [RCV003441180]	uncertain significance	13	101104647	101104647	Human		name
401963835	CV2843351	single nucleotide variant	NM_052867.4(NALCN):c.2917C>T (p.Pro973Ser)	not specified [RCV003479693]	uncertain significance	13	101103312	101103312	Human		name
405000152	CV2852477	deletion	NM_052867.4(NALCN):c.3703del (p.Asp1235fs)	Congenital contractures of the limbs and face, hypotonia, and developmental delay [RCV003493341]	pathogenic	13	101082871	101082871	Human	1	name
402500973	CV2872713	single nucleotide variant	NM_052867.4(NALCN):c.2282G>A (p.Arg761His)	not provided [RCV003545800]	uncertain significance	13	101111137	101111137	Human		name
405075613	CV2873283	single nucleotide variant	NM_052867.4(NALCN):c.2569C>T (p.Arg857Cys)	not provided [RCV003548795]	uncertain significance	13	101107497	101107497	Human		name
405220598	CV2884296	single nucleotide variant	NM_052867.4(NALCN):c.1444G>A (p.Val482Ile)	not provided [RCV003553824]	uncertain significance	13	101229575	101229575	Human		name
405130170	CV2895078	single nucleotide variant	NM_052867.4(NALCN):c.2006G>A (p.Arg669His)	Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 [RCV005392642]\|not provided [RCV003559932]	uncertain significance	13	101143192	101143192	Human	1	name
405199921	CV2901117	single nucleotide variant	NM_052867.4(NALCN):c.1403A>T (p.Asp468Val)	not provided [RCV003565729]	uncertain significance	13	101237786	101237786	Human		name
402497983	CV2906165	single nucleotide variant	NM_052867.4(NALCN):c.2075C>G (p.Ser692Cys)	not provided [RCV003573697]	uncertain significance	13	101143123	101143123	Human		name
405217083	CV2911427	single nucleotide variant	NM_052867.4(NALCN):c.2488C>A (p.His830Asn)	not provided [RCV003567847]	uncertain significance	13	101107578	101107578	Human		name
405201498	CV2918512	single nucleotide variant	NM_052867.4(NALCN):c.1108C>A (p.Gln370Lys)	not provided [RCV003565906]	uncertain significance	13	101283959	101283959	Human		name
405162446	CV2951463	single nucleotide variant	NM_052867.4(NALCN):c.2627A>G (p.His876Arg)	not provided [RCV003670825]	uncertain significance	13	101104903	101104903	Human		name
405237857	CV2969895	single nucleotide variant	NM_052867.4(NALCN):c.2072A>C (p.His691Pro)	not provided [RCV003683322]	uncertain significance	13	101143126	101143126	Human		name
405210190	CV2970536	single nucleotide variant	NM_052867.4(NALCN):c.1127G>T (p.Cys376Phe)	Inborn genetic diseases [RCV004371619]\|not provided [RCV003679287]	uncertain significance	13	101283940	101283940	Human	1	name
402514359	CV2993082	single nucleotide variant	NM_052867.4(NALCN):c.1989G>T (p.Met663Ile)	not provided [RCV003715948]	uncertain significance	13	101143209	101143209	Human		name
402497899	CV3005976	single nucleotide variant	NM_052867.4(NALCN):c.2275C>T (p.His759Tyr)	not provided [RCV003688112]	uncertain significance	13	101111144	101111144	Human		name
405006444	CV3010150	single nucleotide variant	NM_052867.4(NALCN):c.1100A>G (p.Asn367Ser)	not provided [RCV003693619]	uncertain significance	13	101283967	101283967	Human		name
405135776	CV3018602	single nucleotide variant	NM_052867.4(NALCN):c.2898G>C (p.Leu966Phe)	not provided [RCV003702035]	uncertain significance	13	101103331	101103331	Human		name
402504870	CV3038917	single nucleotide variant	NM_052867.4(NALCN):c.1062T>A (p.Asp354Glu)	not provided [RCV003715099]	uncertain significance	13	101284005	101284005	Human		name
405199206	CV3041039	single nucleotide variant	NM_052867.4(NALCN):c.2902T>C (p.Phe968Leu)	not provided [RCV003707278]	uncertain significance	13	101103327	101103327	Human		name
405027172	CV3076035	single nucleotide variant	NM_052867.4(NALCN):c.2221G>A (p.Gly741Arg)	Inborn genetic diseases [RCV005377554]\|not provided [RCV003738870]	uncertain significance	13	101111198	101111198	Human	1	name
405114923	CV3115426	single nucleotide variant	NM_052867.4(NALCN):c.2068G>A (p.Asp690Asn)	not provided [RCV003814108]	uncertain significance	13	101143130	101143130	Human		name
405124114	CV3131762	single nucleotide variant	NM_052867.4(NALCN):c.2193A>C (p.Arg731Ser)	not provided [RCV003837626]	uncertain significance	13	101111226	101111226	Human		name
405083332	CV3137576	single nucleotide variant	NM_052867.4(NALCN):c.2173G>A (p.Ala725Thr)	not provided [RCV003834285]\|not specified [RCV005063185]	uncertain significance	13	101124627	101124627	Human		name
405086404	CV3137784	single nucleotide variant	NM_052867.4(NALCN):c.1153G>A (p.Val385Ile)	Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 [RCV005392712]\|not provided [RCV003834493]	uncertain significance	13	101258556	101258556	Human	1	name
405047179	CV3137808	single nucleotide variant	NM_052867.4(NALCN):c.1587C>G (p.Cys529Trp)	not provided [RCV003831846]	uncertain significance	13	101229432	101229432	Human		name
405041712	CV3141080	single nucleotide variant	NM_052867.4(NALCN):c.1594G>A (p.Glu532Lys)	not provided [RCV003831373]\|not specified [RCV005240954]	uncertain significance	13	101229425	101229425	Human		name
405220701	CV3157807	single nucleotide variant	NM_052867.4(NALCN):c.1954G>C (p.Asp652His)	not provided [RCV003863499]\|not specified [RCV004783126]	uncertain significance	13	101144782	101144782	Human		name
405230818	CV3180916	single nucleotide variant	NM_052867.4(NALCN):c.2744C>A (p.Ala915Glu)	not provided [RCV003865154]	uncertain significance	13	101104543	101104543	Human		name
405725658	CV3235094	single nucleotide variant	NM_052867.4(NALCN):c.1519G>T (p.Gly507Trp)	not provided [RCV004018123]	uncertain significance	13	101229500	101229500	Human		name
405777936	CV3324294	single nucleotide variant	NM_052867.4(NALCN):c.1117G>T (p.Ala373Ser)	Inborn genetic diseases [RCV004471442]	uncertain significance	13	101283950	101283950	Human	1	name
405778264	CV3324348	single nucleotide variant	NM_052867.4(NALCN):c.2680A>G (p.Ile894Val)	Inborn genetic diseases [RCV004471496]	uncertain significance	13	101104607	101104607	Human	1	name
405854776	CV3394891	single nucleotide variant	NM_052867.4(NALCN):c.2118A>C (p.Lys706Asn)	not provided [RCV004555032]	uncertain significance	13	101143080	101143080	Human		name
407428795	CV3410326	single nucleotide variant	NM_052867.4(NALCN):c.1605C>A (p.Asp535Glu)	not specified [RCV004587933]	uncertain significance	13	101229414	101229414	Human		name
407487806	CV3447907	single nucleotide variant	NM_052867.4(NALCN):c.1168A>G (p.Ile390Val)	Inborn genetic diseases [RCV004641169]	uncertain significance	13	101258541	101258541	Human	1	name
407487810	CV3447908	single nucleotide variant	NM_052867.4(NALCN):c.2783T>G (p.Phe928Cys)	Inborn genetic diseases [RCV004641170]	uncertain significance	13	101104401	101104401	Human	1	name
407520684	CV3447911	duplication	NM_052867.4(NALCN):c.4693dup (p.Glu1565fs)	Inborn genetic diseases [RCV004652268]	pathogenic	13	101062029	101062030	Human	1	name
407520689	CV3447913	single nucleotide variant	NM_052867.4(NALCN):c.1419A>T (p.Gln473His)	Inborn genetic diseases [RCV004652270]	uncertain significance	13	101237770	101237770	Human	1	name
407573957	CV3498306	single nucleotide variant	NM_052867.4(NALCN):c.2848A>G (p.Ile950Val)	not specified [RCV004702781]	uncertain significance	13	101104336	101104336	Human		name
407573241	CV3499042	single nucleotide variant	NM_052867.4(NALCN):c.2084C>T (p.Ser695Leu)	not specified [RCV004700013]	uncertain significance	13	101143114	101143114	Human		name
408365458	CV3499932	duplication	NM_052867.4(NALCN):c.4365dup (p.Thr1456fs)	not provided [RCV004721974]	likely pathogenic	13	101067998	101067999	Human		name
408374036	CV3502256	single nucleotide variant	NM_052867.4(NALCN):c.2674A>T (p.Met892Leu)	not provided [RCV004725843]	uncertain significance	13	101104613	101104613	Human		name
408369150	CV3502749	single nucleotide variant	NM_052867.4(NALCN):c.2860G>A (p.Gly954Ser)	not provided [RCV004723870]	uncertain significance	13	101104324	101104324	Human		name
408371335	CV3515702	single nucleotide variant	NM_052867.4(NALCN):c.2326A>C (p.Ile776Leu)	NALCN-related disorder [RCV004740781]	uncertain significance	13	101110657	101110657	Human		name , trait , alternate_id
408393821	CV3519945	single nucleotide variant	NM_052867.4(NALCN):c.2149A>G (p.Arg717Gly)	not provided [RCV004764241]	uncertain significance	13	101124651	101124651	Human		name
408390681	CV3520963	single nucleotide variant	NM_052867.4(NALCN):c.2036G>A (p.Arg679Lys)	not provided [RCV004762785]	uncertain significance	13	101143162	101143162	Human		name
596923517	CV3530462	single nucleotide variant	NM_052867.4(NALCN):c.2816C>T (p.Ala939Val)	not provided [RCV004777061]	uncertain significance	13	101104368	101104368	Human		name
596926406	CV3530789	single nucleotide variant	NM_052867.4(NALCN):c.1753T>C (p.Phe585Leu)	not provided [RCV004778374]	uncertain significance	13	101191928	101191928	Human		name
596931611	CV3531894	single nucleotide variant	NM_052867.4(NALCN):c.2971C>G (p.Leu991Val)	not provided [RCV004781456]	uncertain significance	13	101103258	101103258	Human		name
596923484	CV3535844	single nucleotide variant	NM_052867.4(NALCN):c.1432C>A (p.Gln478Lys)	Congenital contractures of the limbs and face, hypotonia, and developmental delay [RCV004788274]	uncertain significance	13	101237757	101237757	Human	1	name
596927337	CV3536637	single nucleotide variant	NM_052867.4(NALCN):c.2116A>G (p.Lys706Glu)	Congenital contractures of the limbs and face, hypotonia, and developmental delay [RCV004790047]	uncertain significance	13	101143082	101143082	Human	1	name
596932712	CV3539339	single nucleotide variant	NM_052867.4(NALCN):c.1144C>T (p.Arg382Trp)	not provided [RCV004793963]	uncertain significance	13	101258565	101258565	Human		name
596928872	CV3541713	single nucleotide variant	NM_052867.4(NALCN):c.2849T>C (p.Ile950Thr)	Congenital contractures of the limbs and face, hypotonia, and developmental delay [RCV004797587]	likely pathogenic	13	101104335	101104335	Human	1	name
596926407	CV3542263	single nucleotide variant	NM_052867.4(NALCN):c.1808A>T (p.Glu603Val)	Congenital contractures of the limbs and face, hypotonia, and developmental delay [RCV004796478]	uncertain significance	13	101176331	101176331	Human	1	name
596945151	CV3543758	single nucleotide variant	NM_052867.4(NALCN):c.2325G>T (p.Arg775Ser)	not provided [RCV004801880]	uncertain significance	13	101110658	101110658	Human		name
596946339	CV3550604	single nucleotide variant	NM_052867.4(NALCN):c.2114A>G (p.Gln705Arg)	not provided [RCV004819143]	uncertain significance	13	101143084	101143084	Human		name
596939913	CV3550678	single nucleotide variant	NM_052867.4(NALCN):c.1996T>A (p.Phe666Ile)	not provided [RCV004814578]	uncertain significance	13	101143202	101143202	Human		name
597712435	CV3565107	single nucleotide variant	NM_052867.4(NALCN):c.2521G>A (p.Gly841Arg)	Inborn genetic diseases [RCV004959309]	uncertain significance	13	101107545	101107545	Human	1	name
12791757	CV362155	single nucleotide variant	NM_052867.4(NALCN):c.1639A>G (p.Met547Val)	Congenital contractures of the limbs and face, hypotonia, and developmental delay [RCV000416437]	pathogenic\|likely pathogenic	13	101192042	101192042	Human	1	name
597738637	CV3703545	single nucleotide variant	NM_052867.4(NALCN):c.2965C>T (p.Arg989Trp)	Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 [RCV005013316]	uncertain significance	13	101103264	101103264	Human	1	name
12849082	CV373579	single nucleotide variant	NM_052867.4(NALCN):c.2008C>T (p.Gln670Ter)	not provided [RCV000423757]	pathogenic	13	101143190	101143190	Human		name
597919614	CV3737981	indel	NM_052867.4(NALCN):c.515+10_515+11delinsTT	not provided [RCV005074580]	uncertain significance	13	101376906	101376907	Human		name
597867965	CV3742842	single nucleotide variant	NM_052867.4(NALCN):c.1223G>C (p.Gly408Ala)	not provided [RCV005068265]	uncertain significance	13	101258486	101258486	Human		name
597924596	CV3748508	single nucleotide variant	NM_052867.4(NALCN):c.2324G>A (p.Arg775Lys)	not provided [RCV005075155]	uncertain significance	13	101110659	101110659	Human		name
597841963	CV3752923	single nucleotide variant	NM_052867.4(NALCN):c.1276A>T (p.Thr426Ser)	not provided [RCV005086652]	uncertain significance	13	101237913	101237913	Human		name
597956021	CV3754522	single nucleotide variant	NM_052867.4(NALCN):c.1360G>A (p.Glu454Lys)	not provided [RCV005080372]	uncertain significance	13	101237829	101237829	Human		name
597952625	CV3756887	single nucleotide variant	NM_052867.4(NALCN):c.1262C>T (p.Ala421Val)	not provided [RCV005079748]	uncertain significance	13	101258447	101258447	Human		name
597953787	CV3757046	single nucleotide variant	NM_052867.4(NALCN):c.2102A>G (p.Lys701Arg)	not provided [RCV005079907]	uncertain significance	13	101143096	101143096	Human		name
597968407	CV3761072	single nucleotide variant	NM_052867.4(NALCN):c.2564G>A (p.Arg855Gln)	not provided [RCV005083459]	uncertain significance	13	101107502	101107502	Human		name
597848618	CV3762206	single nucleotide variant	NM_052867.4(NALCN):c.2924A>G (p.Asn975Ser)	not specified [RCV005087624]	uncertain significance	13	101103305	101103305	Human		name
597972883	CV3790799	single nucleotide variant	NM_052867.4(NALCN):c.2027G>C (p.Cys676Ser)	not provided [RCV005143014]	uncertain significance	13	101143171	101143171	Human		name
597964766	CV3796963	single nucleotide variant	NM_052867.4(NALCN):c.2921A>G (p.Gln974Arg)	not provided [RCV005139923]	uncertain significance	13	101103308	101103308	Human		name
597952830	CV3798842	single nucleotide variant	NM_052867.4(NALCN):c.1909T>A (p.Phe637Ile)	not provided [RCV005136416]	uncertain significance	13	101144827	101144827	Human		name
597971689	CV3802659	single nucleotide variant	NM_052867.4(NALCN):c.1099A>G (p.Asn367Asp)	not provided [RCV005142257]	uncertain significance	13	101283968	101283968	Human		name
597904861	CV3803601	single nucleotide variant	NM_052867.4(NALCN):c.2983C>T (p.Arg995Cys)	not provided [RCV005153334]	uncertain significance	13	101103246	101103246	Human		name
597874782	CV3813023	single nucleotide variant	NM_052867.4(NALCN):c.2764G>T (p.Glu922Ter)	not provided [RCV005148959]	pathogenic	13	101104420	101104420	Human		name
597912931	CV3817346	single nucleotide variant	NM_052867.4(NALCN):c.2494T>C (p.Tyr832His)	not provided [RCV005154548]	uncertain significance	13	101107572	101107572	Human		name
597848062	CV3824089	single nucleotide variant	NM_052867.4(NALCN):c.1441C>T (p.Arg481Ter)	not provided [RCV005173328]	pathogenic	13	101229578	101229578	Human		name
597928736	CV3837333	single nucleotide variant	NM_052867.4(NALCN):c.1282C>T (p.Leu428Phe)	not provided [RCV005185491]	uncertain significance	13	101237907	101237907	Human		name
597947021	CV3841793	single nucleotide variant	NM_052867.4(NALCN):c.2570G>A (p.Arg857His)	Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 [RCV005392998]\|not provided [RCV005189227]	uncertain significance	13	101107496	101107496	Human	1	name
597954490	CV3844432	single nucleotide variant	NM_052867.4(NALCN):c.2596G>C (p.Val866Leu)	not provided [RCV005191105]	uncertain significance	13	101104934	101104934	Human		name
597856982	CV3849801	single nucleotide variant	NM_052867.4(NALCN):c.1451G>A (p.Arg484Gln)	not provided [RCV005195310]	uncertain significance	13	101229568	101229568	Human		name
598215167	CV3890798	single nucleotide variant	NM_052867.4(NALCN):c.1562C>T (p.Ser521Leu)	not provided [RCV005251651]	uncertain significance	13	101229457	101229457	Human		name
598175637	CV3891018	single nucleotide variant	NM_052867.4(NALCN):c.2643G>T (p.Leu881Phe)	not provided [RCV005251871]	uncertain significance	13	101104644	101104644	Human		name
598224195	CV3892044	single nucleotide variant	NM_052867.4(NALCN):c.1762C>G (p.Leu588Val)	Congenital contractures of the limbs and face, hypotonia, and developmental delay [RCV005253383]	uncertain significance	13	101191919	101191919	Human	1	name
598224073	CV3892060	single nucleotide variant	NM_052867.4(NALCN):c.2236C>T (p.Gln746Ter)	Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 [RCV005253399]	likely pathogenic	13	101111183	101111183	Human	1	name
598159662	CV3897134	single nucleotide variant	NM_052867.4(NALCN):c.2875A>G (p.Ile959Val)	not provided [RCV005368108]	uncertain significance	13	101104309	101104309	Human		name
598205033	CV3987185	single nucleotide variant	NM_052867.4(NALCN):c.2873A>G (p.Asp958Gly)	Inborn genetic diseases [RCV005376694]\|not specified [RCV005417525]	uncertain significance	13	101104311	101104311	Human	1	name
598205037	CV3987186	single nucleotide variant	NM_052867.4(NALCN):c.2932G>C (p.Ala978Pro)	Inborn genetic diseases [RCV005376695]	uncertain significance	13	101103297	101103297	Human	1	name
598159198	CV3987189	single nucleotide variant	NM_052867.4(NALCN):c.2615A>G (p.Asn872Ser)	Inborn genetic diseases [RCV005390100]	uncertain significance	13	101104915	101104915	Human	1	name
598205053	CV3987190	single nucleotide variant	NM_052867.4(NALCN):c.1927A>G (p.Met643Val)	Inborn genetic diseases [RCV005376698]	uncertain significance	13	101144809	101144809	Human	1	name
598208423	CV4007696	single nucleotide variant	NM_052867.4(NALCN):c.1084G>C (p.Val362Leu)	Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 [RCV005400010]	uncertain significance	13	101283983	101283983	Human	1	name
616935031	CV4009253	single nucleotide variant	NM_052867.4(NALCN):c.1225G>A (p.Glu409Lys)	not provided [RCV005402425]	uncertain significance	13	101258484	101258484	Human		name
616934012	CV4011988	single nucleotide variant	NM_052867.4(NALCN):c.1076G>A (p.Trp359Ter)	Congenital contractures of the limbs and face, hypotonia, and developmental delay [RCV005408538]	pathogenic	13	101283991	101283991	Human	1	name
617154177	CV4022402	single nucleotide variant	NM_052867.4(NALCN):c.1782T>G (p.Phe594Leu)	not provided [RCV005429759]	pathogenic	13	101176357	101176357	Human		name
12895320	CV408782	single nucleotide variant	NM_052867.4(NALCN):c.1776T>G (p.Ser592Arg)	not provided [RCV000486031]	pathogenic\|likely pathogenic	13	101176363	101176363	Human		name
12894524	CV408783	single nucleotide variant	NM_052867.4(NALCN):c.1673A>G (p.Asp558Gly)	not provided [RCV000483143]	likely pathogenic	13	101192008	101192008	Human		name
12906878	CV414716	single nucleotide variant	NM_052867.4(NALCN):c.1675G>C (p.Val559Leu)	Congenital contractures of the limbs and face, hypotonia, and developmental delay [RCV000489764]	uncertain significance	13	101192006	101192006	Human	1	name
13475375	CV445108	single nucleotide variant	NM_052867.4(NALCN):c.2483A>G (p.Glu828Gly)	not provided [RCV000519871]	likely pathogenic	13	101107583	101107583	Human		name
13508999	CV482036	single nucleotide variant	NM_052867.4(NALCN):c.2563C>T (p.Arg855Ter)	Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 [RCV001090146]\|Inborn genetic diseases [RCV000623970]\|NALCN-related disorder [RCV005250079]\|not provided [RCV000578635]	pathogenic\|likely pathogenic	13	101107503	101107503	Human	2	name , alternate_id
14399292	CV609032	single nucleotide variant	NM_052867.4(NALCN):c.1800C>A (p.Asp600Glu)	Congenital contractures of the limbs and face, hypotonia, and developmental delay [RCV000768409]	likely pathogenic	13	101176339	101176339	Human	1	name
14399293	CV609033	single nucleotide variant	NM_052867.4(NALCN):c.1571G>A (p.Ser524Asn)	Congenital contractures of the limbs and face, hypotonia, and developmental delay [RCV000768410]	likely pathogenic	13	101229448	101229448	Human	1	name
14396139	CV611779	single nucleotide variant	NM_052867.4(NALCN):c.2947C>T (p.Gln983Ter)	not provided [RCV000760874]	likely pathogenic	13	101103282	101103282	Human		name
14746940	CV672269	duplication	NM_052867.4(NALCN):c.3056dup (p.Leu1019fs)	Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 [RCV000845218]\|not provided [RCV001008269]\|not specified [RCV002285174]	pathogenic	13	101103172	101103173	Human	1	name
15015159	CV679790	single nucleotide variant	NM_052867.4(NALCN):c.1799A>G (p.Asp600Gly)	Congenital contractures of the limbs and face, hypotonia, and developmental delay [RCV000853279]\|NALCN-related disorder [RCV004538169]	pathogenic\|likely pathogenic	13	101176340	101176340	Human	2	name , alternate_id
15040422	CV680108	single nucleotide variant	NM_052867.4(NALCN):c.1783G>T (p.Val595Phe)	Fetal akinesia deformation sequence 1 [RCV000855468]	likely pathogenic	13	101176356	101176356	Human	3	name
15103783	CV688095	single nucleotide variant	NM_052867.4(NALCN):c.1567A>G (p.Ile523Val)	NALCN-related disorder [RCV004538294]\|not provided [RCV000870743]	benign\|likely benign	13	101229452	101229452	Human	1	name , alternate_id
15137782	CV688096	single nucleotide variant	NM_052867.4(NALCN):c.1115G>A (p.Arg372His)	Inborn genetic diseases [RCV002536263]\|NALCN-related disorder [RCV004538224]\|not provided [RCV000864727]	likely benign\|uncertain significance	13	101283952	101283952	Human	2	name , alternate_id
8621771	CV76352	single nucleotide variant	NM_052867.4(NALCN):c.1924C>T (p.Gln642Ter)	Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 [RCV000055644]	pathogenic	13	101144812	101144812	Human	1	name
15196434	CV769380	single nucleotide variant	NM_052867.4(NALCN):c.2495A>G (p.Tyr832Cys)	NALCN-related disorder [RCV004533590]\|not provided [RCV000934218]\|not specified [RCV001731981]	likely benign\|conflicting interpretations of pathogenicity	13	101107571	101107571	Human	1	name , alternate_id
21074403	CV796889	single nucleotide variant	NM_052867.4(NALCN):c.2080C>T (p.Arg694Cys)	not provided [RCV000995074]	uncertain significance	13	101143118	101143118	Human		name
21074404	CV796890	single nucleotide variant	NM_052867.4(NALCN):c.1177A>G (p.Met393Val)	not provided [RCV000995075]	uncertain significance	13	101258532	101258532	Human		name
28889015	CV860020	single nucleotide variant	NM_052867.4(NALCN):c.2242G>A (p.Ala748Thr)	Inborn genetic diseases [RCV002555955]\|not provided [RCV001092083]	conflicting interpretations of pathogenicity\|uncertain significance	13	101111177	101111177	Human	1	name
8634956	CV90178	single nucleotide variant	NM_052867.2(NALCN):c.1132C>T (p.Gln378Ter)	Malignant melanoma [RCV000070275]	not provided	13	101283935	101283935	Human		name
28890569	CV903596	single nucleotide variant	NM_052867.4(NALCN):c.2648G>T (p.Gly883Val)	Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 [RCV001170026]	uncertain significance	13	101104639	101104639	Human	1	name
38460162	CV919475	single nucleotide variant	NM_052867.4(NALCN):c.2551C>G (p.Arg851Gly)	Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 [RCV001196291]	uncertain significance	13	101107515	101107515	Human	1	name
38462178	CV919476	single nucleotide variant	NM_052867.4(NALCN):c.1100A>T (p.Asn367Ile)	Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 [RCV001198258]	uncertain significance	13	101283967	101283967	Human	1	name
38463845	CV961309	single nucleotide variant	NM_052867.4(NALCN):c.2887C>G (p.Leu963Val)	Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 [RCV001249327]\|not provided [RCV001760293]	uncertain significance\|not provided	13	101104297	101104297	Human	1	name
41408100	CV980716	single nucleotide variant	NM_052867.4(NALCN):c.2615A>C (p.Asn872Thr)	Congenital contractures of the limbs and face, hypotonia, and developmental delay [RCV004799627]	uncertain significance	13	101104915	101104915	Human	1	name
41408225	CV980797	deletion	NM_052867.4(NALCN):c.3319del (p.Ala1107fs)	not provided [RCV001281632]	pathogenic	13	101089917	101089917	Human		name
41408254	CV980798	single nucleotide variant	NM_052867.4(NALCN):c.1756G>C (p.Ala586Pro)	not provided [RCV001281638]	likely pathogenic	13	101191925	101191925	Human		name
329848016	CV2667635	single nucleotide variant	NM_052867.4(NALCN):c.3890C>T (p.Ala1297Val)	not provided [RCV003229202]	uncertain significance	13	101075937	101075937	Human		name
405170049	CV2854273	single nucleotide variant	NM_052867.4(NALCN):c.3584A>G (p.Asp1195Gly)	not provided [RCV003542092]	uncertain significance	13	101083198	101083198	Human		name
405172904	CV2897779	single nucleotide variant	NM_052867.4(NALCN):c.4230T>A (p.Phe1410Leu)	not provided [RCV003563276]	uncertain significance	13	101068795	101068795	Human		name
405147525	CV2960004	single nucleotide variant	NM_052867.4(NALCN):c.4223A>T (p.Asp1408Val)	not provided [RCV003669753]	uncertain significance	13	101068802	101068802	Human		name
405163140	CV3062769	single nucleotide variant	NM_052867.4(NALCN):c.3230C>G (p.Pro1077Arg)	not provided [RCV003727240]	uncertain significance	13	101095613	101095613	Human		name
408392570	CV3525285	single nucleotide variant	NM_052867.4(NALCN):c.3704A>G (p.Asp1235Gly)	not provided [RCV004771171]	uncertain significance	13	101082870	101082870	Human		name
408393036	CV3525437	single nucleotide variant	NM_052867.4(NALCN):c.3131C>G (p.Ala1044Gly)	not provided [RCV004771323]	uncertain significance	13	101100815	101100815	Human		name
408390612	CV3527640	single nucleotide variant	NM_052867.4(NALCN):c.4048G>A (p.Ala1350Thr)	not provided [RCV004774908]	uncertain significance	13	101074569	101074569	Human		name
596925950	CV3530641	single nucleotide variant	NM_052867.4(NALCN):c.3460G>A (p.Val1154Ile)	not provided [RCV004778226]	uncertain significance	13	101089692	101089692	Human		name
596927280	CV3536573	single nucleotide variant	NM_052867.4(NALCN):c.4006T>C (p.Phe1336Leu)	Congenital contractures of the limbs and face, hypotonia, and developmental delay [RCV004789982]	likely benign	13	101074611	101074611	Human	1	name
596928567	CV3540457	single nucleotide variant	NM_052867.4(NALCN):c.4897C>G (p.Gln1633Glu)	Inborn genetic diseases [RCV005387330]\|not provided [RCV004794784]	uncertain significance	13	101059826	101059826	Human	1	name
596943357	CV3542898	single nucleotide variant	NM_052867.4(NALCN):c.4070T>G (p.Phe1357Cys)	not provided [RCV004798482]	uncertain significance	13	101074547	101074547	Human		name
596944300	CV3543134	single nucleotide variant	NM_052867.4(NALCN):c.4073G>A (p.Gly1358Asp)	Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 [RCV004799006]	likely pathogenic	13	101074544	101074544	Human	1	name
596944848	CV3543525	single nucleotide variant	NM_052867.4(NALCN):c.4930A>G (p.Ser1644Gly)	not provided [RCV004801647]	uncertain significance	13	101058032	101058032	Human		name
596941741	CV3543803	single nucleotide variant	NM_052867.4(NALCN):c.3176G>T (p.Gly1059Val)	not provided [RCV004799791]	uncertain significance	13	101095667	101095667	Human		name
597651538	CV3552015	single nucleotide variant	NM_052867.4(NALCN):c.3611A>G (p.Tyr1204Cys)	not provided [RCV004820728]	uncertain significance	13	101083171	101083171	Human		name
597712415	CV3565103	single nucleotide variant	NM_052867.4(NALCN):c.4581C>G (p.Asp1527Glu)	Inborn genetic diseases [RCV004959306]	uncertain significance	13	101065427	101065427	Human	1	name
597712421	CV3565105	single nucleotide variant	NM_052867.4(NALCN):c.3829G>A (p.Asp1277Asn)	Inborn genetic diseases [RCV004959307]	uncertain significance	13	101081583	101081583	Human	1	name
597712428	CV3565106	single nucleotide variant	NM_052867.4(NALCN):c.4847C>A (p.Thr1616Asn)	Inborn genetic diseases [RCV004959308]	uncertain significance	13	101059876	101059876	Human	1	name
597859522	CV3744655	single nucleotide variant	NM_052867.4(NALCN):c.5117T>G (p.Met1706Arg)	not provided [RCV005067200]	uncertain significance	13	101055395	101055395	Human		name
597930062	CV3745801	single nucleotide variant	NM_052867.4(NALCN):c.5074G>A (p.Gly1692Arg)	not provided [RCV005075786]	uncertain significance	13	101055438	101055438	Human		name
597926846	CV3748952	single nucleotide variant	NM_052867.4(NALCN):c.5113C>T (p.Pro1705Ser)	not provided [RCV005075408]	uncertain significance	13	101055399	101055399	Human		name
597909124	CV3749491	single nucleotide variant	NM_052867.4(NALCN):c.5021C>T (p.Ser1674Leu)	not provided [RCV005073339]	uncertain significance	13	101057941	101057941	Human		name
597839581	CV3758385	single nucleotide variant	NM_052867.4(NALCN):c.4921C>G (p.Gln1641Glu)	not provided [RCV005086220]	uncertain significance	13	101058041	101058041	Human		name
597853459	CV3758678	single nucleotide variant	NM_052867.4(NALCN):c.4198G>A (p.Val1400Ile)	not provided [RCV005088239]	uncertain significance	13	101068827	101068827	Human		name
597857652	CV3769528	single nucleotide variant	NM_052867.4(NALCN):c.5099T>C (p.Val1700Ala)	not provided [RCV005105569]	uncertain significance	13	101055413	101055413	Human		name
597900070	CV3782971	single nucleotide variant	NM_052867.4(NALCN):c.4621T>C (p.Ser1541Pro)	not provided [RCV005126991]	uncertain significance	13	101062102	101062102	Human		name
597955003	CV3786800	single nucleotide variant	NM_052867.4(NALCN):c.3242A>C (p.Lys1081Thr)	not provided [RCV005121892]	uncertain significance	13	101095601	101095601	Human		name
597927859	CV3788733	single nucleotide variant	NM_052867.4(NALCN):c.4640G>C (p.Ser1547Thr)	not provided [RCV005131211]	uncertain significance	13	101062083	101062083	Human		name
597899337	CV3796409	single nucleotide variant	NM_052867.4(NALCN):c.4142T>C (p.Val1381Ala)	not provided [RCV005152492]	uncertain significance	13	101073639	101073639	Human		name
597971722	CV3802673	single nucleotide variant	NM_052867.4(NALCN):c.3600A>T (p.Arg1200Ser)	not provided [RCV005142271]	uncertain significance	13	101083182	101083182	Human		name
597955630	CV3809531	single nucleotide variant	NM_052867.4(NALCN):c.4579G>A (p.Asp1527Asn)	not provided [RCV005162256]	uncertain significance	13	101065429	101065429	Human		name
597972773	CV3819908	single nucleotide variant	NM_052867.4(NALCN):c.3673G>T (p.Val1225Leu)	not provided [RCV005167622]	uncertain significance	13	101083109	101083109	Human		name
597927854	CV3837011	single nucleotide variant	NM_052867.4(NALCN):c.3525G>A (p.Trp1175Ter)	not provided [RCV005185362]	pathogenic	13	101083769	101083769	Human		name
598205047	CV3987188	single nucleotide variant	NM_052867.4(NALCN):c.3973C>G (p.Leu1325Val)	Inborn genetic diseases [RCV005376697]	uncertain significance	13	101074644	101074644	Human	1	name
616934979	CV4009206	single nucleotide variant	NM_052867.4(NALCN):c.4297A>C (p.Ile1433Leu)	not provided [RCV005402378]	uncertain significance	13	101068728	101068728	Human		name
616935032	CV4009254	single nucleotide variant	NM_052867.4(NALCN):c.3176G>C (p.Gly1059Ala)	not provided [RCV005402426]	uncertain significance	13	101095667	101095667	Human		name
616938382	CV4012963	single nucleotide variant	NM_052867.4(NALCN):c.3494C>T (p.Thr1165Met)	not provided [RCV005410428]	uncertain significance	13	101083800	101083800	Human		name
617149564	CV4018808	single nucleotide variant	NM_052867.4(NALCN):c.3245C>T (p.Pro1082Leu)	not provided [RCV005422720]	uncertain significance	13	101095598	101095598	Human		name
617150896	CV4019251	single nucleotide variant	NM_052867.4(NALCN):c.4183A>G (p.Met1395Val)	not provided [RCV005423659]	uncertain significance	13	101073598	101073598	Human		name
8639008	CV94267	single nucleotide variant	NM_052867.4(NALCN):c.3860G>T (p.Trp1287Leu)	Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 [RCV000074370]	pathogenic	13	101081552	101081552	Human	1	name
40887280	CV973884	single nucleotide variant	NM_052867.4(NALCN):c.4355T>C (p.Leu1452Ser)	Inborn genetic diseases [RCV001266781]\|not provided [RCV004719124]	likely pathogenic\|uncertain significance	13	101068009	101068009	Human	1	name
40890233	CV975367	single nucleotide variant	NM_052867.4(NALCN):c.3522A>T (p.Arg1174Ser)	Congenital contractures of the limbs and face, hypotonia, and developmental delay [RCV002464434]\|not provided [RCV001268880]	pathogenic\|likely pathogenic	13	101083772	101083772	Human	1	name
126737457	CV1021136	single nucleotide variant	NM_052867.4(NALCN):c.3272C>A (p.Ala1091Glu)	Congenital contractures of the limbs and face, hypotonia, and developmental delay [RCV001335309]\|Inborn genetic diseases [RCV002546724]\|NALCN-related disorder [RCV004531122]\|not provided [RCV001760437]	uncertain significance	13	101089964	101089964	Human	3	alternate_id
150434422	CV1243947	single nucleotide variant	NM_052867.4(NALCN):c.4850C>T (p.Thr1617Ile)	Inborn genetic diseases [RCV002538536]\|NALCN-related disorder [RCV004741048]\|not provided [RCV001665154]	uncertain significance	13	101059873	101059873	Human	2	alternate_id
329350792	CV1706772	single nucleotide variant	NM_052867.4(NALCN):c.3050T>G (p.Ile1017Ser)	Congenital contractures of the limbs and face, hypotonia, and developmental delay [RCV003159077]\|NALCN-related disorder [RCV004534040]	likely pathogenic	13	101103179	101103179	Human	2	alternate_id
401903333	CV2799931	single nucleotide variant	NM_052867.4(NALCN):c.4072G>C (p.Gly1358Arg)	NALCN-related disorder [RCV004536746]	uncertain significance	13	101074545	101074545	Human		trait , alternate_id
401934767	CV2802914	insertion	NM_052867.4(NALCN):c.591_592insTA (p.Gln198fs)	NALCN-related disorder [RCV004529761]	likely pathogenic	13	101376752	101376753	Human		trait , alternate_id
405275633	CV3199411	single nucleotide variant	NM_052867.4(NALCN):c.3748T>C (p.Phe1250Leu)	NALCN-related disorder [RCV004539383]	uncertain significance	13	101082826	101082826	Human		trait , alternate_id
13516248	CV493556	single nucleotide variant	NM_052867.4(NALCN):c.4977C>G (p.Asp1659Glu)	Inborn genetic diseases [RCV004955705]\|NALCN-related disorder [RCV004530718]\|not provided [RCV000595285]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	13	101057985	101057985	Human	2	alternate_id
14746946	CV672267	single nucleotide variant	NM_052867.4(NALCN):c.4150C>T (p.Arg1384Ter)	Congenital contractures of the limbs and face, hypotonia, and developmental delay [RCV003984848]\|Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 [RCV000845225]\|NALCN-related disorder [RCV003336223]	pathogenic	13	101073631	101073631	Human	2	alternate_id
150443222	CV1205098	insertion	NM_052867.4(NALCN):c.3955-61_3955-60insTCTG	not provided [RCV001583941]	likely benign	13	101074722	101074723	Human		name
150482340	CV1279961	insertion	NM_052867.4(NALCN):c.3162+111_3162+112insCA	not provided [RCV001715007]	benign	13	101100672	101100673	Human		name
150536720	CV1301076	indel	NM_052867.4(NALCN):c.4447-6_4447-3delinsACGA	not provided [RCV001763559]	uncertain significance	13	101065564	101065567	Human		name

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