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.3917G>A (p.Gly1306Glu)	SCN4A	Pathogenic	17	62021206	62021206	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA117852,UniProtKB:P35499#VAR_001568,OMIM:603967.0025
single nucleotide variant	NM_000334.4(SCN4A):c.4428G>A (p.Met1476Ile)	SCN4A	Pathogenic/Likely pathogenic	17	62019214	62019214	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA117853,UniProtKB:P35499#VAR_054950,OMIM:603967.0026
single nucleotide variant	NM_000334.4(SCN4A):c.2078T>C (p.Ile693Thr)	SCN4A	Pathogenic	17	62034820	62034820	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA117855,UniProtKB:P35499#VAR_065231,OMIM:603967.0028
single nucleotide variant	NM_005677.4(COLQ):c.640G>T (p.Glu214Ter)	COLQ	Pathogenic	3	15512120	15512120	C	A	criteria provided, single submitter	ClinGen:CA118389,OMIM:603033.0002
single nucleotide variant	NM_005677.4(COLQ):c.506C>G (p.Ser169Ter)	COLQ	Pathogenic	3	15516954	15516954	G	C	criteria provided, single submitter	ClinGen:CA118391,OMIM:603033.0003
Deletion	NM_005677.4(COLQ):c.1082del (p.Pro361fs)	COLQ	Pathogenic	3	15497519	15497519	AG	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA2275876,OMIM:603033.0005
Duplication	NM_005677.4(COLQ):c.788dup (p.Pro265fs)	COLQ	Pathogenic	3	15507873	15507874	C	CG	criteria provided, multiple submitters, no conflicts	ClinGen:CA2275972,OMIM:603033.0006
single nucleotide variant	NM_005677.4(COLQ):c.1289A>C (p.Tyr430Ser)	COLQ	Pathogenic	3	15495345	15495345	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA118395,UniProtKB:Q9Y215#VAR_010136,OMIM:603033.0007
single nucleotide variant	NM_005677.4(COLQ):c.943C>T (p.Arg315Ter)	COLQ	Pathogenic	3	15499704	15499704	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA118396,OMIM:603033.0008
single nucleotide variant	NM_005677.4(COLQ):c.1298+3A>G	COLQ	Pathogenic	3	15495333	15495333	T	C	criteria provided, multiple submitters, no conflicts	OMIM:603033.0009