#Chr	Start	End	Ref	Alt	CLINSIG	CLNDBN	CLNACC	CLNDSDB	CLNDSDBID
1	949523	949523	C	T	Pathogenic	Immunodeficiency_38_with_basal_ganglia_calcification	RCV000162196.3	MedGen:OMIM	CN221808:616126
1	949696	949696	-	G	Pathogenic	Immunodeficiency_38_with_basal_ganglia_calcification	RCV000148989.5	MedGen:OMIM	CN221808:616126
1	949739	949739	G	T	Pathogenic	Immunodeficiency_38_with_basal_ganglia_calcification	RCV000148988.5	MedGen:OMIM	CN221808:616126
1	955597	955597	G	T	Benign	not_specified	RCV000116272.4	MedGen	CN169374
1	955619	955619	G	C	other	not_specified	RCV000193277.2	MedGen	CN169374
1	957568	957568	A	G	Benign	not_specified	RCV000250556.1	MedGen	CN169374
1	957605	957605	G	A	Pathogenic	Congenital_myasthenic_syndrome	RCV000235037.1	MedGen:Orphanet	C0751882:ORPHA590
1	957640	957640	C	T	other	not_specified	RCV000116258.3	MedGen	CN169374
1	957693	957693	A	T	Pathogenic	Congenital_myasthenic_syndrome	RCV000235021.1	MedGen:Orphanet	C0751882:ORPHA590
1	976059	976059	C	T	other	not_specified	RCV000195231.2	MedGen	CN169374
1	976554	976554	C	G	Benign	not_specified	RCV000241878.1	MedGen	CN169374
1	976563	976563	C	T	Benign	not_specified	RCV000246662.1	MedGen	CN169374
1	976598	976598	C	T	Benign	not_specified	RCV000249809.1	MedGen	CN169374
1	976629	976629	C	T	Benign	not_specified	RCV000116282.1	MedGen	CN169374
1	976962	976962	C	T	Pathogenic|Pathogenic	Myasthenic_syndrome\x2c_congenital\x2c_8|Congenital_myasthenic_syndrome	RCV000114428.4|RCV000235030.1	MedGen:OMIM|MedGen:Orphanet	C3808739:615120|C0751882:ORPHA590
1	976963	976963	A	G	Likely benign	not_specified	RCV000116253.2	MedGen	CN169374
1	977028	977028	G	T	Likely benign	not_specified	RCV000243499.2	MedGen	CN169374
1	977330	977330	T	C	Benign	not_specified	RCV000116254.2	MedGen	CN169374
1	977516	977516	-	C	Pathogenic	Congenital_myasthenic_syndrome	RCV000235036.1	MedGen:Orphanet	C0751882:ORPHA590
1	977570	977570	G	A	Benign	not_specified	RCV000251375.1	MedGen	CN169374
1	978604	978605	CT	-	Benign	not_specified	RCV000244801.1	MedGen	CN169374
1	978628	978628	C	T	Likely benign	not_specified	RCV000249555.1	MedGen	CN169374
1	978668	978668	G	A	Benign	not_specified	RCV000254334.1	MedGen	CN169374
1	978762	978762	G	A	Benign	not_specified	RCV000244472.1	MedGen	CN169374
1	978856	978856	G	A	Benign	not_specified	RCV000249242.1	MedGen	CN169374
1	978974	978974	G	A	Benign	not_specified	RCV000254010.1	MedGen	CN169374
1	979397	979397	G	A	other	not_specified	RCV000192681.2	MedGen	CN169374
1	979514	979514	C	G	other	not_specified	RCV000116255.3	MedGen	CN169374
1	979556	979556	G	A	Likely benign	not_specified	RCV000245482.1	MedGen	CN169374
1	979748	979748	A	T	Benign	not_specified	RCV000116256.2	MedGen	CN169374
1	979835	979835	G	A	Benign	not_specified	RCV000242021.1	MedGen	CN169374
1	980552	980552	G	A	Likely benign	not_specified	RCV000245180.1	MedGen	CN169374
1	980557	980557	G	A	Likely benign	not_specified	RCV000249944.1	MedGen	CN169374
1	980773	980773	C	T	other	not_specified	RCV000116257.3	MedGen	CN169374
1	980824	980824	G	A	other	not_specified	RCV000246474.2	MedGen	CN169374
1	980824	980824	G	C	other	not_specified	RCV000246474.2	MedGen	CN169374
1	980840	980840	C	T	Uncertain significance	not_specified	RCV000194095.1	MedGen	CN169374
1	980948	980948	C	T	Likely benign	not_specified	RCV000252843.1	MedGen	CN169374
1	981087	981087	A	G	Benign	not_specified	RCV000243014.1	MedGen	CN169374
1	981131	981131	A	G	Benign	not_specified	RCV000247794.1	MedGen	CN169374
1	981165	981165	G	A	Likely benign	not_specified	RCV000252551.1	MedGen	CN169374
1	981328	981328	C	G	Likely benign	not_specified	RCV000249068.1	MedGen	CN169374
1	981345	981345	C	T	Likely benign	not_specified	RCV000252248.1	MedGen	CN169374
1	981353	981353	C	T	Uncertain significance	not_provided	RCV000224244.1	MedGen	CN221809
1	981459	981459	C	T	Likely benign	not_specified	RCV000244043.1	MedGen	CN169374
1	981868	981868	C	T	Likely benign	not_specified	RCV000248800.1	MedGen	CN169374
1	981931	981931	A	G	Benign	not_specified	RCV000116259.2	MedGen	CN169374
1	981942	981942	C	A	Benign	not_specified	RCV000245361.1	MedGen	CN169374
1	982213	982213	G	C	other	not_specified	RCV000116260.3	MedGen	CN169374
1	982213	982213	G	T	other	not_specified	RCV000116260.3	MedGen	CN169374
1	982356	982356	G	A	Likely benign	not_specified	RCV000253262.1	MedGen	CN169374
1	982722	982722	A	G	other	not_specified	RCV000116261.3	MedGen	CN169374
1	982783	982783	T	C	other	not_specified	RCV000116262.3	MedGen	CN169374
1	982844	982844	G	C	other	not_specified	RCV000116263.4	MedGen	CN169374
1	982941	982941	T	A	Benign	not_specified	RCV000246305.1	MedGen	CN169374
1	982941	982941	T	C	Benign	not_specified	RCV000246305.1	MedGen	CN169374
1	982994	982994	T	C	Benign	not_specified	RCV000116264.2	MedGen	CN169374
1	983006	983006	C	T	other	not_specified	RCV000116265.3	MedGen	CN169374
1	983243	983243	C	T	Likely benign	not_specified	RCV000247622.1	MedGen	CN169374
1	983256	983256	C	T	other	not_specified	RCV000195120.2	MedGen	CN169374
1	983386	983386	C	T	Uncertain significance	not_specified	RCV000192787.1	MedGen	CN169374
1	983506	983506	C	T	other	not_specified	RCV000116266.3	MedGen	CN169374
1	983604	983604	C	T	other	not_specified	RCV000116267.3	MedGen	CN169374
1	983612	983612	G	A	other	not_specified	RCV000116268.3	MedGen	CN169374
1	984257	984257	C	T	Likely benign	not_specified	RCV000193826.1	MedGen	CN169374
1	984302	984302	T	C	Benign	not_specified	RCV000116269.2	MedGen	CN169374
1	984426	984426	C	T	Likely benign	not_specified	RCV000248636.1	MedGen	CN169374
1	984450	984450	A	T	Benign	not_specified	RCV000251783.1	MedGen	CN169374
1	984669	984669	C	T	Likely benign	not_specified	RCV000243502.1	MedGen	CN169374
1	984769	984769	C	T	other	not_specified	RCV000116270.3	MedGen	CN169374
1	984847	984847	G	A	Benign	not_specified	RCV000253016.1	MedGen	CN169374
1	984847	984847	G	C	Benign	not_specified	RCV000253016.1	MedGen	CN169374
1	984949	984949	G	A	Likely benign	not_specified	RCV000244907.1	MedGen	CN169374
1	984971	984971	G	A	other	not_specified	RCV000116271.3	MedGen	CN169374
1	984971	984971	G	C	other	not_specified	RCV000116271.3	MedGen	CN169374
1	985070	985070	G	A	Uncertain significance	not_specified	RCV000238604.1	MedGen	CN169374
1	985171	985171	C	T	other	not_specified	RCV000116273.3	MedGen	CN169374
1	985266	985266	C	T	Benign	not_specified	RCV000250964.1	MedGen	CN169374
1	985308	985322	CCCCTGCCAGCCCAA	-	Uncertain significance	not_specified	RCV000296346.1	MedGen	CN169374
1	985377	985377	C	T	Likely benign	not_specified	RCV000254107.1	MedGen	CN169374
1	985407	985407	C	A	Uncertain significance	not_specified	RCV000405008.1	MedGen	CN169374
1	985434	985434	T	A	Likely benign	not_specified	RCV000245933.1	MedGen	CN169374
1	985446	985446	G	T	Benign	not_specified	RCV000250684.1	MedGen	CN169374
1	985449	985449	G	A	Benign	not_specified	RCV000242423.1	MedGen	CN169374
1	985797	985797	A	G	Benign	not_specified	RCV000247197.1	MedGen	CN169374
1	985826	985826	G	A	other	not_specified	RCV000116274.3	MedGen	CN169374
1	985853	985853	G	A	Pathogenic	Congenital_myasthenic_syndrome	RCV000235025.1	MedGen:Orphanet	C0751882:ORPHA590
1	985855	985855	C	T	Benign	not_specified	RCV000242085.1	MedGen	CN169374
1	985900	985900	C	G	Benign	not_specified	RCV000116275.2	MedGen	CN169374
1	985900	985900	C	T	Benign	not_specified	RCV000116275.2	MedGen	CN169374
1	985955	985955	G	C	Pathogenic|Pathogenic	Myasthenic_syndrome\x2c_congenital\x2c_8|Congenital_myasthenic_syndrome	RCV000019902.30|RCV000235029.1	MedGen:OMIM|MedGen:Orphanet	C3808739:615120|C0751882:ORPHA590
1	986143	986143	G	T	Pathogenic|Pathogenic	Myasthenic_syndrome\x2c_congenital\x2c_8|Congenital_myasthenic_syndrome	RCV000114427.4|RCV000235038.1	MedGen:OMIM|MedGen:Orphanet	C3808739:615120|C0751882:ORPHA590
1	986165	986165	G	A	Benign	not_specified	RCV000251658.1	MedGen	CN169374
1	986716	986716	C	G	Likely benign	not_specified	RCV000246601.1	MedGen	CN169374
1	986716	986716	C	T	Likely benign	not_specified	RCV000246601.1	MedGen	CN169374
1	986731	986731	C	T	Benign	not_specified	RCV000252836.1	MedGen	CN169374
1	986732	986732	G	A	Uncertain significance|Benign	not_provided|not_specified	RCV000116276.1|RCV000244639.1	MedGen|MedGen	CN221809|CN169374
1	986732	986732	G	C	Uncertain significance|Benign	not_provided|not_specified	RCV000116276.1|RCV000244639.1	MedGen|MedGen	CN221809|CN169374
1	986737	986737	T	C	other	not_specified	RCV000116277.3	MedGen	CN169374
