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_000080.4(CHRNE):c.1326+1G>A	CHRNE	Pathogenic/Likely pathogenic	17	4802295	4802295	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA397298067
single nucleotide variant	NM_001368882.1(COL13A1):c.685-1164T>C	COL13A1	Likely pathogenic	10	71657289	71657289	T	C	criteria provided, single submitter	ClinGen:CA376933293
single nucleotide variant	NM_198576.4(AGRN):c.4621C>T (p.Arg1541Ter)	AGRN	Likely pathogenic	1	985052	985052	C	T	criteria provided, single submitter	ClinGen:CA337778755
single nucleotide variant	NM_001171613.2(PREPL):c.1263-1G>C	PREPL	Pathogenic/Likely pathogenic	2	44554068	44554068	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA346689817
single nucleotide variant	NM_001368882.1(COL13A1):c.399+2T>C	COL13A1	Likely pathogenic	10	71631968	71631968	T	C	criteria provided, single submitter	ClinGen:CA209269468
single nucleotide variant	NM_000079.4(CHRNA1):c.884G>C (p.Gly295Ala)	CHRNA1	Likely pathogenic	2	175614792	175614792	C	G	criteria provided, single submitter	ClinGen:CA349336541
Duplication	NM_198576.4(AGRN):c.5312dup (p.Ser1772fs)	AGRN	Likely pathogenic	1	986689	986690	C	CT	criteria provided, single submitter	ClinGen:CA658795341
Deletion	NM_001171613.2(PREPL):c.1526del (p.Pro509fs)	PREPL	Pathogenic	2	44550504	44550504	AG	A	criteria provided, single submitter	ClinGen:CA658795720
Deletion	NM_000080.4(CHRNE):c.1244_1257del (p.Ala415fs)	CHRNE	Likely pathogenic	17	4802365	4802378	CCTCGGGGGCGGCGG	C	criteria provided, single submitter	ClinGen:CA658798679
Duplication	NM_001382.4(DPAGT1):c.380_395dup (p.Ser133fs)	DPAGT1	Pathogenic	11	118971440	118971441	G	GGCAGCTGTAGGTAGCA	criteria provided, multiple submitters, no conflicts	ClinGen:CA477369991