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_000334.4(SCN4A):c.749T>C (p.Leu250Pro)	SCN4A	Pathogenic/Likely pathogenic	17	62045670	62045670	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16607433
single nucleotide variant	NM_000334.4(SCN4A):c.2011T>C (p.Phe671Leu)	SCN4A	Likely pathogenic	17	62036633	62036633	A	G	criteria provided, single submitter	ClinGen:CA16607817
single nucleotide variant	NM_000080.4(CHRNE):c.794C>T (p.Pro265Leu)	CHRNE	Pathogenic/Likely pathogenic	17	4804293	4804293	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA8314264
Duplication	NM_000079.4(CHRNA1):c.518dup (p.Ser174fs)	CHRNA1	Pathogenic/Likely pathogenic	2	175618968	175618969	G	GC	criteria provided, multiple submitters, no conflicts	ClinGen:CA16617326
single nucleotide variant	NM_000079.4(CHRNA1):c.235-1G>A	CHRNA1	Likely pathogenic	2	175622404	175622404	C	T	criteria provided, single submitter	ClinGen:CA16617327
single nucleotide variant	NM_000751.3(CHRND):c.933-2A>G	CHRND	Likely pathogenic	2	233396250	233396250	A	G	criteria provided, single submitter	ClinGen:CA16617496
single nucleotide variant	NM_005677.4(COLQ):c.1279T>C (p.Cys427Arg)	COLQ	Likely pathogenic	3	15495355	15495355	A	G	criteria provided, single submitter	ClinGen:CA16617837
Duplication	NM_001368882.1(COL13A1):c.1503dup (p.Gly502fs)	COL13A1	Pathogenic	10	71689815	71689816	C	CA	criteria provided, single submitter	ClinGen:CA16618974
single nucleotide variant	NM_000080.4(CHRNE):c.1033-1G>C	CHRNE	Pathogenic/Likely pathogenic	17	4802680	4802680	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA8314044
single nucleotide variant	NM_000334.4(SCN4A):c.5113T>A (p.Phe1705Ile)	SCN4A	Pathogenic/Likely pathogenic	17	62018529	62018529	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16620553