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_005592.4(MUSK):c.79+2T>G	MUSK	Pathogenic	9	113431265	113431265	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA277140
Deletion	NC_000009.12:g.(?_110668885)_(110801008_?)del	MUSK	Pathogenic	9	113431165	113563288	na	na	criteria provided, single submitter	-
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
Deletion	NM_033087.4(ALG2):c.1040del (p.Gly347fs)	ALG2	Likely pathogenic	9	101980427	101980427	AC	A	criteria provided, single submitter	ClinGen:CA252406,OMIM:607905.0001
Duplication	NM_001368882.1(COL13A1):c.1503dup (p.Gly502fs)	COL13A1	Pathogenic	10	71689815	71689816	C	CA	criteria provided, single submitter	ClinGen:CA16618974
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
Deletion	NM_001368882.1(COL13A1):c.648del (p.Gly217fs)	COL13A1	Pathogenic	10	71654444	71654444	CA	C	criteria provided, single submitter	ClinGen:CA5534339
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_001368882.1(COL13A1):c.271C>T (p.Arg91Ter)	COL13A1	Pathogenic	10	71562450	71562450	C	T	criteria provided, single submitter	ClinGen:CA10603145
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