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_005677.4(COLQ):c.393+1G>A	COLQ	Pathogenic/Likely pathogenic	3	15520483	15520483	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA351599494
single nucleotide variant	NM_000334.4(SCN4A):c.5113T>A (p.Phe1705Ile)	SCN4A	Pathogenic/Likely pathogenic	17	62018529	62018529	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16620553
single nucleotide variant	NM_000080.4(CHRNE):c.1033-1G>C	CHRNE	Pathogenic/Likely pathogenic	17	4802680	4802680	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA8314044
Duplication	NM_000079.4(CHRNA1):c.518dup (p.Ser174fs)	CHRNA1	Pathogenic/Likely pathogenic	2	175618968	175618969	G	GC	criteria provided, multiple submitters, no conflicts	ClinGen:CA16617326
single nucleotide variant	NM_000080.4(CHRNE):c.794C>T (p.Pro265Leu)	CHRNE	Pathogenic/Likely pathogenic	17	4804293	4804293	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA8314264
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_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_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_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