先天性筋無力症候群

小児・神経疾患

表のタイトル行が青色の項目は、クリックすることでソートすることができます。

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.749T>C (p.Leu250Pro)	SCN4A	Pathogenic/Likely pathogenic	17	62045670	62045670	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16607433
single nucleotide variant	NM_000334.4(SCN4A):c.2386C>G (p.Leu796Val)	SCN4A	Pathogenic/Likely pathogenic	17	62029251	62029251	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA16607432
single nucleotide variant	NM_000334.4(SCN4A):c.4463T>C (p.Leu1488Pro)	SCN4A	Pathogenic	17	62019179	62019179	A	G	criteria provided, single submitter	ClinGen:CA16607427
single nucleotide variant	NM_000334.4(SCN4A):c.4776G>T (p.Met1592Ile)	SCN4A	Pathogenic	17	62018866	62018866	C	A	criteria provided, single submitter	ClinGen:CA10603317
single nucleotide variant	NM_000334.4(SCN4A):c.1320T>G (p.Asn440Lys)	SCN4A	Pathogenic	17	62041960	62041960	A	C	criteria provided, single submitter	ClinGen:CA351017
single nucleotide variant	NM_000334.4(SCN4A):c.4343G>C (p.Arg1448Pro)	SCN4A	Pathogenic	17	62019299	62019299	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA350900
single nucleotide variant	NM_000334.4(SCN4A):c.3404G>A (p.Arg1135His)	SCN4A	Pathogenic	17	62024442	62024442	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA345720,UniProtKB:P35499#VAR_054944
single nucleotide variant	NM_000334.4(SCN4A):c.664C>T (p.Arg222Trp)	SCN4A	Pathogenic/Likely pathogenic	17	62048561	62048561	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA345718,UniProtKB:P35499#VAR_054935
single nucleotide variant	NM_000334.4(SCN4A):c.4108A>G (p.Met1370Val)	SCN4A	Pathogenic/Likely pathogenic	17	62020366	62020366	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA341673
single nucleotide variant	NM_000334.4(SCN4A):c.4078A>G (p.Met1360Val)	SCN4A	Pathogenic	17	62020396	62020396	T	C	criteria provided, single submitter	ClinGen:CA341671