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_001368882.1(COL13A1):c.271C>T (p.Arg91Ter)	COL13A1	Pathogenic	10	71562450	71562450	C	T	criteria provided, single submitter	ClinGen:CA10603145
Indel	NM_005055.5(RAPSN):c.853_855delinsTAA (p.Gln285Ter)	RAPSN	Pathogenic	11	47463220	47463222	CTG	TTA	criteria provided, single submitter	ClinGen:CA10603216
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
Deletion	NM_000747.3(CHRNB1):c.919del (p.Ile307fs)	CHRNB1	Pathogenic	17	7357714	7357714	CA	C	criteria provided, single submitter	ClinGen:CA10603603
single nucleotide variant	NM_005677.4(COLQ):c.529-2A>G	COLQ	Pathogenic/Likely pathogenic	3	15516460	15516460	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA2276113
Deletion	NM_000080.4(CHRNE):c.1093del (p.Ala365fs)	CHRNE	Pathogenic/Likely pathogenic	17	4802619	4802619	GC	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10605279
single nucleotide variant	NM_020549.5(CHAT):c.85A>T (p.Arg29Ter)	CHAT	Pathogenic	10	50822320	50822320	A	T	criteria provided, single submitter	ClinGen:CA10605520
single nucleotide variant	NM_003055.3(SLC18A3):c.1192G>C (p.Asp398His)	SLC18A3	Likely pathogenic	10	50819978	50819978	G	C	criteria provided, single submitter	ClinGen:CA16042222,OMIM:600336.0002
Deletion	NM_000751.3(CHRND):c.822del (p.Ser274fs)	CHRND	Likely pathogenic	2	233396063	233396063	GT	G	criteria provided, single submitter	ClinGen:CA16043387
single nucleotide variant	NM_000751.3(CHRND):c.1385G>T (p.Trp462Leu)	CHRND	Likely pathogenic	2	233399853	233399853	G	T	criteria provided, single submitter	ClinGen:CA16043388