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_000334.4(SCN4A):c.1320T>G (p.Asn440Lys)	SCN4A	Pathogenic	17	62041960	62041960	A	C	criteria provided, single submitter	ClinGen:CA351017
single nucleotide variant	NM_014231.5(VAMP1):c.340+2T>G	VAMP1	Pathogenic	12	6574054	6574054	A	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10583055,OMIM:185880.0001
single nucleotide variant	NM_198576.4(AGRN):c.226G>A (p.Gly76Ser)	AGRN	Likely pathogenic	1	957605	957605	G	A	criteria provided, single submitter	ClinGen:CA507784
Duplication	NM_000080.4(CHRNE):c.1353dup (p.Asn452fs)	CHRNE	Pathogenic	17	4802159	4802160	T	TC	criteria provided, multiple submitters, no conflicts	ClinGen:CA8313842,Leiden Muscular Dystrophy (CHRNE):CHRNE_00009,OMIM:100725.0014
Duplication	NM_000080.4(CHRNE):c.130dup (p.Glu44fs)	CHRNE	Pathogenic	17	4805974	4805975	T	TC	criteria provided, multiple submitters, no conflicts	ClinGen:CA8314599
single nucleotide variant	NM_130811.4(SNAP25):c.200T>A (p.Ile67Asn)	SNAP25	Pathogenic	20	10273845	10273845	T	A	criteria provided, single submitter	ClinGen:CA10586162,UniProtKB:P60880#VAR_073698,OMIM:600322.0001
single nucleotide variant	NM_005055.4(RAPSN):c.-199C>G	RAPSN	Pathogenic/Likely pathogenic	11	47470715	47470715	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10587996
Deletion	NM_021815.5(SLC5A7):c.123_126del (p.Ala41_Ile42insTer)	SLC5A7	Likely pathogenic	2	108604733	108604736	GCCAT	G	criteria provided, single submitter	ClinGen:CA10588815,OMIM:608761.0005
single nucleotide variant	NM_005677.4(COLQ):c.679C>T (p.Arg227Ter)	COLQ	Pathogenic	3	15512081	15512081	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA2276025
Deletion	NM_001368882.1(COL13A1):c.648del (p.Gly217fs)	COL13A1	Pathogenic	10	71654444	71654444	CA	C	criteria provided, single submitter	ClinGen:CA5534339