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
Duplication	NM_173660.5(DOK7):c.1021_1039dup (p.Ser347fs)	DOK7	Pathogenic	4	3494733	3494734	C	CGCCACTGGCAGCCACTCCT	criteria provided, single submitter	ClinGen:CA645372746
Duplication	NM_173660.5(DOK7):c.1124_1127dup (p.Ala378fs)	DOK7	Pathogenic	4	3494833	3494834	A	AGCCT	criteria provided, multiple submitters, no conflicts	ClinGen:CA249193,OMIM:610285.0001
Duplication	NM_173660.5(DOK7):c.1138dup (p.Ala380fs)	DOK7	Pathogenic	4	3494846	3494847	C	CG	criteria provided, multiple submitters, no conflicts	ClinGen:CA276140
Duplication	NM_173660.5(DOK7):c.1143dup (p.Glu382fs)	DOK7	Pathogenic	4	3494851	3494852	G	GC	criteria provided, multiple submitters, no conflicts	ClinGen:CA251737,OMIM:610285.0005
single nucleotide variant	NM_173660.5(DOK7):c.1215T>G (p.Tyr405Ter)	DOK7	Likely pathogenic	4	3494928	3494928	T	G	criteria provided, single submitter	-
Duplication	NM_173660.5(DOK7):c.1263dup (p.Ser422fs)	DOK7	Pathogenic/Likely pathogenic	4	3494969	3494970	G	GC	criteria provided, multiple submitters, no conflicts	ClinGen:CA251734,OMIM:610285.0002,ClinVar:424773
Deletion	NM_173660.5(DOK7):c.1263del (p.Ser422fs)	DOK7	Pathogenic/Likely pathogenic	4	3494970	3494970	GC	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA351335,ClinVar:424773
Deletion	NM_173660.5(DOK7):c.1264del (p.Ser422fs)	DOK7	Pathogenic	4	3494977	3494977	CT	C	criteria provided, single submitter	-
Duplication	NM_173660.5(DOK7):c.1378dup (p.Gln460fs)	DOK7	Pathogenic/Likely pathogenic	4	3495085	3495086	G	GC	criteria provided, multiple submitters, no conflicts	ClinGen:CA251742,OMIM:610285.0010
Duplication	NM_173660.5(DOK7):c.1476_1485dup (p.Gly496fs)	DOK7	Pathogenic/Likely pathogenic	4	3495188	3495189	G	GTCCAGTCTGT	criteria provided, multiple submitters, no conflicts	ClinGen:CA276139