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_005984.5(SLC25A1):c.821C>T (p.Ala274Val)	SLC25A1	Likely pathogenic	22	19163934	19163934	G	A	criteria provided, single submitter	ClinGen:CA130984,OMIM:190315.0005
single nucleotide variant	NM_005984.5(SLC25A1):c.844C>G (p.Arg282Gly)	SLC25A1	Likely pathogenic	22	19163735	19163735	G	C	criteria provided, single submitter	ClinGen:CA130978,UniProtKB:P53007#VAR_069496,OMIM:190315.0001
single nucleotide variant	NM_001382.4(DPAGT1):c.349G>A (p.Val117Ile)	DPAGT1	Likely pathogenic	11	118971487	118971487	C	T	criteria provided, single submitter	ClinGen:CA129971,UniProtKB:Q9H3H5#VAR_068811,OMIM:191350.0002
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
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_020549.5(CHAT):c.1007T>C (p.Ile336Thr)	CHAT	Likely pathogenic	10	50835727	50835727	T	C	criteria provided, single submitter	ClinGen:CA258002,UniProtKB:P28329#VAR_038605,OMIM:118490.0011
single nucleotide variant	NM_020549.5(CHAT):c.1258C>T (p.Arg420Cys)	CHAT	Likely pathogenic	10	50854697	50854697	C	T	criteria provided, single submitter	ClinGen:CA257999,UniProtKB:P28329#VAR_011669,OMIM:118490.0010
single nucleotide variant	NM_020549.5(CHAT):c.1444A>G (p.Arg482Gly)	CHAT	Likely pathogenic	10	50857615	50857615	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA257984,UniProtKB:P28329#VAR_011671,OMIM:118490.0005
single nucleotide variant	NM_002334.4(LRP4):c.547+1G>A	LRP4	Likely pathogenic	11	46920937	46920937	C	T	criteria provided, single submitter	OMIM:604270.0003
single nucleotide variant	NM_002334.4(LRP4):c.409G>A (p.Asp137Asn)	LRP4	Likely pathogenic	11	46921435	46921435	C	T	criteria provided, single submitter	ClinGen:CA117685,UniProtKB:O75096#VAR_063776,OMIM:604270.0002