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.692C>T (p.Thr231Met)	SCN4A	Likely pathogenic	17	62048533	62048533	G	A	criteria provided, single submitter	ClinGen:CA292972551
single nucleotide variant	NM_000334.4(SCN4A):c.3425G>A (p.Arg1142Gln)	SCN4A	Pathogenic	17	62024421	62024421	C	T	criteria provided, single submitter	ClinGen:CA8709288,OMIM:603967.0040
single nucleotide variant	NM_000334.4(SCN4A):c.3473C>T (p.Pro1158Leu)	SCN4A	Likely pathogenic	17	62022967	62022967	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA400618699
single nucleotide variant	NM_000334.4(SCN4A):c.3781G>T (p.Glu1261Ter)	SCN4A	Pathogenic	17	62022164	62022164	C	A	criteria provided, single submitter	ClinGen:CA8709137
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
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
Insertion	NM_000334.4(SCN4A):c.4179_4180insCC (p.Ile1394fs)	SCN4A	Likely pathogenic	17	62020294	62020295	T	TGG	criteria provided, single submitter	ClinGen:CA16620555
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
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
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