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>C (p.Gly1306Ala)	SCN4A	Pathogenic/Likely pathogenic	17	62021206	62021206	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA117845,UniProtKB:P35499#VAR_001567,OMIM:603967.0012
single nucleotide variant	NM_000334.4(SCN4A):c.3877G>A (p.Val1293Ile)	SCN4A	Pathogenic/Likely pathogenic	17	62022068	62022068	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA117846,UniProtKB:P35499#VAR_001566,OMIM:603967.0013
single nucleotide variant	NM_000334.4(SCN4A):c.1333G>A (p.Val445Met)	SCN4A	Pathogenic	17	62041947	62041947	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA117847,UniProtKB:P35499#VAR_017786,OMIM:603967.0014
single nucleotide variant	NM_000334.4(SCN4A):c.2006G>A (p.Arg669His)	SCN4A	Pathogenic	17	62036638	62036638	C	T	criteria provided, single submitter	ClinGen:CA253651,UniProtKB:P35499#VAR_017788,OMIM:603967.0015
single nucleotide variant	NM_000334.4(SCN4A):c.2015G>A (p.Arg672His)	SCN4A	Pathogenic	17	62036629	62036629	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA253652,UniProtKB:P35499#VAR_017790,OMIM:603967.0016
single nucleotide variant	NM_000334.4(SCN4A):c.2014C>G (p.Arg672Gly)	SCN4A	Pathogenic	17	62036630	62036630	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA253653,UniProtKB:P35499#VAR_017789,OMIM:603967.0017
single nucleotide variant	NM_000334.4(SCN4A):c.2014C>A (p.Arg672Ser)	SCN4A	Pathogenic	17	62036630	62036630	G	T	criteria provided, single submitter	ClinGen:CA253654,UniProtKB:P35499#VAR_017791,OMIM:603967.0020
single nucleotide variant	NM_000334.4(SCN4A):c.3472C>T (p.Pro1158Ser)	SCN4A	Pathogenic	17	62022968	62022968	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA253655,UniProtKB:P35499#VAR_017792,OMIM:603967.0021
single nucleotide variant	NM_000334.4(SCN4A):c.2023C>G (p.Arg675Gly)	SCN4A	Pathogenic/Likely pathogenic	17	62034875	62034875	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA117850,UniProtKB:P35499#VAR_037104,OMIM:603967.0022
single nucleotide variant	NM_000334.4(SCN4A):c.2024G>A (p.Arg675Gln)	SCN4A	Pathogenic	17	62034874	62034874	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA117851,UniProtKB:P35499#VAR_037105,OMIM:603967.0023