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.4774A>G (p.Met1592Val)	SCN4A	Pathogenic	17	62018868	62018868	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA117834,UniProtKB:P35499#VAR_001575,OMIM:603967.0002
single nucleotide variant	NM_000334.4(SCN4A):c.4342C>T (p.Arg1448Cys)	SCN4A	Pathogenic	17	62019300	62019300	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA117835,UniProtKB:P35499#VAR_001572,OMIM:603967.0003
single nucleotide variant	NM_000334.4(SCN4A):c.4343G>A (p.Arg1448His)	SCN4A	Pathogenic	17	62019299	62019299	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA117836,UniProtKB:P35499#VAR_001573,OMIM:603967.0004
single nucleotide variant	NM_000334.4(SCN4A):c.3466G>A (p.Ala1156Thr)	SCN4A	Pathogenic/Likely pathogenic	17	62022974	62022974	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA117837,UniProtKB:P35499#VAR_001565,OMIM:603967.0005
single nucleotide variant	NM_000334.4(SCN4A):c.2411C>T (p.Ser804Phe)	SCN4A	Pathogenic/Likely pathogenic	17	62029226	62029226	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA117838,UniProtKB:P35499#VAR_001563,OMIM:603967.0006
single nucleotide variant	NM_000334.4(SCN4A):c.2023C>T (p.Arg675Trp)	SCN4A	Pathogenic/Likely pathogenic	17	62034875	62034875	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA117839,UniProtKB:P35499#VAR_037106,OMIM:603967.0024
single nucleotide variant	NM_000334.4(SCN4A):c.3917G>T (p.Gly1306Val)	SCN4A	Pathogenic	17	62021206	62021206	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA117840,UniProtKB:P35499#VAR_001569,OMIM:603967.0007
single nucleotide variant	NM_000334.4(SCN4A):c.3938C>T (p.Thr1313Met)	SCN4A	Pathogenic	17	62021185	62021185	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA117841,UniProtKB:P35499#VAR_001570,OMIM:603967.0008
single nucleotide variant	NM_000334.4(SCN4A):c.4765G>A (p.Val1589Met)	SCN4A	Pathogenic	17	62018877	62018877	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA117842,UniProtKB:P35499#VAR_001574,OMIM:603967.0009
single nucleotide variant	NM_000334.4(SCN4A):c.3478A>G (p.Ile1160Val)	SCN4A	Pathogenic	17	62022962	62022962	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA117843,UniProtKB:P35499#VAR_017793,OMIM:603967.0010