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	NC_000002.12:g.(?_44321336)_(44359735_?)del	PREPL	Pathogenic	2	44548475	44586874	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_000079.4(CHRNA1):c.711C>A (p.Asn237Lys)	CHRNA1	Pathogenic	2	175618298	175618298	G	T	criteria provided, single submitter	ClinGen:CA349339147
single nucleotide variant	NM_001171613.2(PREPL):c.40C>T (p.Gln14Ter)	PREPL	Pathogenic/Likely pathogenic	2	44573442	44573442	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA1641666
Deletion	NM_001171613.2(PREPL):c.-31_-28del	PREPL	Pathogenic	2	44573509	44573512	CTTGT	C	criteria provided, single submitter	ClinGen:CA658657029
Duplication	NM_005677.4(COLQ):c.157dup (p.Leu53fs)	COLQ	Pathogenic	3	15531093	15531094	A	AG	criteria provided, multiple submitters, no conflicts	ClinGen:CA70627351
Deletion	NC_000004.12:g.(?_3485519)_(3493521_?)del	DOK7	Pathogenic	4	3487246	3495248	na	na	criteria provided, single submitter	-
Deletion	NC_000004.12:g.(?_3473386)_(3489816_?)del	DOK7	Pathogenic	4	3475113	3491543	na	na	criteria provided, single submitter	-
Duplication	NM_173660.5(DOK7):c.957dup (p.Lys320fs)	DOK7	Pathogenic/Likely pathogenic	4	3494664	3494665	A	AC	criteria provided, multiple submitters, no conflicts	ClinGen:CA549706289
Deletion	NC_000009.12:g.(?_110734231)_(110734395_?)del	MUSK	Pathogenic	9	113496511	113496675	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_020549.5(CHAT):c.1642C>T (p.Arg548Ter)	CHAT	Pathogenic	10	50863148	50863148	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA5497581