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.4427T>C (p.Met1476Thr)	SCN4A	Likely pathogenic	17	62019215	62019215	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16620554
Insertion	NM_000334.4(SCN4A):c.4179_4180insCC (p.Ile1394fs)	SCN4A	Likely pathogenic	17	62020294	62020295	T	TGG	criteria provided, single submitter	ClinGen:CA16620555
Duplication	NM_000334.4(SCN4A):c.1996_2001dup (p.Ser666_Val667dup)	SCN4A	Likely pathogenic	17	62036642	62036643	G	GCACAGA	criteria provided, single submitter	ClinGen:CA16620556
Indel	NM_005984.5(SLC25A1):c.657_665delinsGACCTC (p.Asn219_Ile222delinsLysThrSer)	SLC25A1	Likely pathogenic	22	19164173	19164181	ATCAGAGGG	GAGGTC	criteria provided, single submitter	ClinGen:CA16621035
single nucleotide variant	NM_005677.4(COLQ):c.393+1G>A	COLQ	Pathogenic/Likely pathogenic	3	15520483	15520483	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA351599494
single nucleotide variant	NM_000080.4(CHRNE):c.715A>C (p.Lys239Gln)	CHRNE	Likely pathogenic	17	4804372	4804372	T	G	criteria provided, single submitter	ClinGen:CA8314279
single nucleotide variant	NM_000334.4(SCN4A):c.4776G>A (p.Met1592Ile)	SCN4A	Pathogenic/Likely pathogenic	17	62018866	62018866	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA400615002
single nucleotide variant	NM_002334.4(LRP4):c.316+1G>A	LRP4	Pathogenic	11	46921812	46921812	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA5970549
single nucleotide variant	NM_000079.4(CHRNA1):c.778G>T (p.Gly260Trp)	CHRNA1	Likely pathogenic	2	175618231	175618231	C	A	criteria provided, single submitter	ClinGen:CA349338630
single nucleotide variant	NM_000079.4(CHRNA1):c.175C>T (p.Gln59Ter)	CHRNA1	Pathogenic	2	175624230	175624230	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA1974690