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.1385G>T (p.Trp462Leu)	CHRND	Likely pathogenic	2	233399853	233399853	G	T	criteria provided, single submitter	ClinGen:CA16043388
single nucleotide variant	NM_000079.4(CHRNA1):c.622G>A (p.Val208Met)	CHRNA1	Likely pathogenic	2	175618387	175618387	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16604074
single nucleotide variant	NM_005677.4(COLQ):c.1010T>C (p.Ile337Thr)	COLQ	Likely pathogenic	3	15498031	15498031	A	G	criteria provided, single submitter	ClinGen:CA16604386
single nucleotide variant	NM_005055.5(RAPSN):c.271C>T (p.Arg91Cys)	RAPSN	Likely pathogenic	11	47469624	47469624	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA5976769
single nucleotide variant	NM_000080.4(CHRNE):c.914G>A (p.Gly305Asp)	CHRNE	Likely pathogenic	17	4804091	4804091	C	T	criteria provided, single submitter	ClinGen:CA16607349
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_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
single nucleotide variant	NM_000334.4(SCN4A):c.4427T>C (p.Met1476Thr)	SCN4A	Likely pathogenic	17	62019215	62019215	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16620554