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.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.1021_1039dup (p.Ser347fs)	DOK7	Pathogenic	4	3494733	3494734	C	CGCCACTGGCAGCCACTCCT	criteria provided, single submitter	ClinGen:CA645372746
Duplication	NM_173660.5(DOK7):c.957dup (p.Lys320fs)	DOK7	Pathogenic/Likely pathogenic	4	3494664	3494665	A	AC	criteria provided, multiple submitters, no conflicts	ClinGen:CA549706289
Deletion	NM_173660.5(DOK7):c.957del (p.Lys320fs)	DOK7	Pathogenic	4	3494665	3494665	AC	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA275408,OMIM:610285.0011
Deletion	NC_000004.12:g.(?_3473386)_(3489816_?)del	DOK7	Pathogenic	4	3475113	3491543	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_173660.5(DOK7):c.601C>T (p.Arg201Ter)	DOK7	Pathogenic	4	3487334	3487334	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA251739,OMIM:610285.0007
Deletion	NM_173660.5(DOK7):c.596del (p.Ile199fs)	DOK7	Pathogenic/Likely pathogenic	4	3487329	3487329	AT	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA277304
single nucleotide variant	NM_173660.5(DOK7):c.539G>C (p.Gly180Ala)	DOK7	Likely pathogenic	4	3487272	3487272	G	C	criteria provided, single submitter	ClinGen:CA251738,UniProtKB:Q18PE1#VAR_027544,OMIM:610285.0006
single nucleotide variant	NM_173660.5(DOK7):c.514G>A (p.Gly172Arg)	DOK7	Pathogenic/Likely pathogenic	4	3478251	3478251	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_173660.5(DOK7):c.513C>T (p.Gly171=)	DOK7	Pathogenic/Likely pathogenic	4	3478250	3478250	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA2829017