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.4387C>A (p.Arg1463Ser)	SCN4A	Likely pathogenic	17	62019255	62019255	G	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000334.4(SCN4A):c.4388G>A (p.Arg1463His)	SCN4A	Pathogenic	17	62019254	62019254	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_000334.4(SCN4A):c.2065C>T (p.Leu689Phe)	SCN4A	Likely pathogenic	17	62034833	62034833	G	A	criteria provided, single submitter	-
single nucleotide variant	NM_000334.4(SCN4A):c.2874T>A (p.Tyr958Ter)	SCN4A	Likely pathogenic	17	62026868	62026868	A	T	criteria provided, single submitter	-
single nucleotide variant	NM_000334.4(SCN4A):c.2009C>A (p.Ser670Tyr)	SCN4A	Pathogenic	17	62036635	62036635	G	T	criteria provided, single submitter	-
Deletion	NM_000334.4(SCN4A):c.1173del (p.Phe392fs)	SCN4A	Pathogenic/Likely pathogenic	17	62043531	62043531	AG	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000334.4(SCN4A):c.4372G>T (p.Val1458Phe)	SCN4A	Pathogenic/Likely pathogenic	17	62019270	62019270	C	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000334.4(SCN4A):c.3929T>A (p.Ile1310Asn)	SCN4A	Pathogenic/Likely pathogenic	17	62021194	62021194	A	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000334.4(SCN4A):c.4300T>C (p.Ser1434Pro)	SCN4A	Pathogenic	17	62019342	62019342	A	G	criteria provided, single submitter	-
single nucleotide variant	NM_000334.4(SCN4A):c.4442C>A (p.Ala1481Asp)	SCN4A	Pathogenic	17	62019200	62019200	G	T	criteria provided, single submitter	-