先天性筋無力症候群

小児・神経疾患

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Type	Name	Gene Symbol	Clinical Significance	Chromosome	Start	Stop	Reference Allele	Alternate Allele	Review Status	Other IDs
Type	Name	Gene Symbol	Clinical Significance	Chromosome	(GRCh37)		Reference Allele	Alternate Allele	Review Status	Other IDs
single nucleotide variant	NM_000751.3(CHRND):c.821-2A>C	CHRND	Pathogenic/Likely pathogenic	2	233396060	233396060	A	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001171613.2(PREPL):c.1753+1G>T	PREPL	Pathogenic/Likely pathogenic	2	44549869	44549869	C	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_005677.4(COLQ):c.107-1G>A	COLQ	Likely pathogenic	3	15531145	15531145	C	T	criteria provided, single submitter	-
Deletion	NC_000004.12:g.(?_3485529)_(3493511_?)del	DOK7	Pathogenic	4	3487256	3495238	na	na	criteria provided, single submitter	-
Deletion	NC_000010.11:g.(?_49614170)_(49665066_?)del	CHAT	Pathogenic	10	50822216	50873112	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_005592.4(MUSK):c.486+1G>C	MUSK	Likely pathogenic	9	113457811	113457811	G	C	criteria provided, single submitter	-
single nucleotide variant	NM_005592.4(MUSK):c.754-2A>G	MUSK	Likely pathogenic	9	113509919	113509919	A	G	criteria provided, single submitter	-
Deletion	NC_000017.11:g.(?_7454287)_(7454530_?)del	CHRNB1	Pathogenic	17	7357606	7357849	na	na	criteria provided, single submitter	-
Deletion	NM_000080.4(CHRNE):c.1319_1326+15del	CHRNE	Pathogenic/Likely pathogenic	17	4802281	4802303	CTGGCTCCTGTCCCACCTCGCCGG	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000080.4(CHRNE):c.235-2A>G	CHRNE	Likely pathogenic	17	4805623	4805623	T	C	criteria provided, multiple submitters, no conflicts	-