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
Deletion	NM_000080.4(CHRNE):c.614_620del (p.Trp205fs)	CHRNE	Pathogenic	17	4804467	4804473	GATGGCCC	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA8314307,OMIM:100725.0015
single nucleotide variant	NM_000080.4(CHRNE):c.991C>T (p.Arg331Trp)	CHRNE	Likely pathogenic	17	4802804	4802804	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA258176,UniProtKB:Q04844#VAR_000294,OMIM:100725.0016
single nucleotide variant	NM_000080.4(CHRNE):c.1291G>C (p.Ala431Pro)	CHRNE	Pathogenic	17	4802331	4802331	C	G	criteria provided, single submitter	ClinGen:CA128061,UniProtKB:Q04844#VAR_021215,OMIM:100725.0019
single nucleotide variant	NM_000751.3(CHRND):c.866C>T (p.Ser289Phe)	CHRND	Likely pathogenic	2	233396107	233396107	C	T	criteria provided, single submitter	ClinGen:CA128062,UniProtKB:Q07001#VAR_019566,OMIM:100720.0001
Deletion	NM_000751.3(CHRND):c.820_820+1del	CHRND	Pathogenic	2	233394849	233394850	CAG	C	criteria provided, single submitter	ClinGen:CA10575541,Leiden Muscular Dystrophy (CHRND):CHRND_00013,OMIM:100720.0004
single nucleotide variant	NM_000751.3(CHRND):c.234G>A (p.Trp78Ter)	CHRND	Pathogenic	2	233392146	233392146	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA128067,OMIM:100720.0005
single nucleotide variant	NM_000747.3(CHRNB1):c.865G>A (p.Val289Met)	CHRNB1	Pathogenic	17	7357660	7357660	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA128074,UniProtKB:P11230#VAR_000288,OMIM:100710.0001
single nucleotide variant	NM_000079.4(CHRNA1):c.517G>A (p.Gly173Ser)	CHRNA1	Pathogenic/Likely pathogenic	2	175618970	175618970	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA258183,UniProtKB:P02708#VAR_000282,OMIM:100690.0004
single nucleotide variant	NM_000334.4(SCN4A):c.2014C>T (p.Arg672Cys)	SCN4A	Pathogenic	17	62036630	62036630	G	A	criteria provided, single submitter	ClinGen:CA341668,UniProtKB:P35499#VAR_054939
single nucleotide variant	NM_000334.4(SCN4A):c.2065C>A (p.Leu689Ile)	SCN4A	Pathogenic	17	62034833	62034833	G	T	criteria provided, single submitter	ClinGen:CA341669