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_000079.4(CHRNA1):c.622G>A (p.Val208Met)	CHRNA1	Likely pathogenic	2	175618387	175618387	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16604074
single nucleotide variant	NM_001244710.2(GFPT1):c.41G>A (p.Arg14Gln)	GFPT1	Pathogenic/Likely pathogenic	2	69601212	69601212	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16604348
single nucleotide variant	NM_005677.4(COLQ):c.1010T>C (p.Ile337Thr)	COLQ	Likely pathogenic	3	15498031	15498031	A	G	criteria provided, single submitter	ClinGen:CA16604386
single nucleotide variant	NM_005677.4(COLQ):c.1228C>T (p.Arg410Trp)	COLQ	Pathogenic	3	15495406	15495406	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA2275821
single nucleotide variant	NM_005055.5(RAPSN):c.271C>T (p.Arg91Cys)	RAPSN	Likely pathogenic	11	47469624	47469624	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA5976769
single nucleotide variant	NM_001382.4(DPAGT1):c.1A>C (p.Met1Leu)	DPAGT1	Pathogenic/Likely pathogenic	11	118972365	118972365	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16606252
single nucleotide variant	NM_005055.5(RAPSN):c.439G>A (p.Glu147Lys)	RAPSN	Pathogenic/Likely pathogenic	11	47469456	47469456	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA5976743
single nucleotide variant	NM_000080.4(CHRNE):c.914G>A (p.Gly305Asp)	CHRNE	Likely pathogenic	17	4804091	4804091	C	T	criteria provided, single submitter	ClinGen:CA16607349
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.2386C>G (p.Leu796Val)	SCN4A	Pathogenic/Likely pathogenic	17	62029251	62029251	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA16607432