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
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_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_000751.3(CHRND):c.821-2A>C	CHRND	Pathogenic/Likely pathogenic	2	233396060	233396060	A	C	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000080.4(CHRNE):c.684_687del (p.Asp229fs)	CHRNE	Pathogenic/Likely pathogenic	17	4804400	4804403	CGTCA	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000080.4(CHRNE):c.992G>A (p.Arg331Gln)	CHRNE	Pathogenic/Likely pathogenic	17	4802803	4802803	C	T	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000080.4(CHRNE):c.1371del (p.Cys458fs)	CHRNE	Pathogenic/Likely pathogenic	17	4802142	4802142	AG	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_014231.5(VAMP1):c.340del (p.Ile114fs)	VAMP1	Pathogenic/Likely pathogenic	12	6574056	6574056	CT	C	criteria provided, multiple submitters, no conflicts	OMIM:185880.0002
Deletion	NM_000334.4(SCN4A):c.1173del (p.Phe392fs)	SCN4A	Pathogenic/Likely pathogenic	17	62043531	62043531	AG	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000334.4(SCN4A):c.4372G>T (p.Val1458Phe)	SCN4A	Pathogenic/Likely pathogenic	17	62019270	62019270	C	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000334.4(SCN4A):c.3929T>A (p.Ile1310Asn)	SCN4A	Pathogenic/Likely pathogenic	17	62021194	62021194	A	T	criteria provided, multiple submitters, no conflicts	-