先天性筋無力症候群

小児・神経疾患

表のタイトル行が青色の項目は、クリックすることでソートすることができます。

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
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
single nucleotide variant	NM_130811.4(SNAP25):c.142G>T (p.Val48Phe)	SNAP25	Likely pathogenic	20	10265399	10265399	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA204648
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.1476_1485dup (p.Gly496fs)	DOK7	Pathogenic/Likely pathogenic	4	3495188	3495189	G	GTCCAGTCTGT	criteria provided, multiple submitters, no conflicts	ClinGen:CA276139
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_005592.4(MUSK):c.79+2T>G	MUSK	Pathogenic	9	113431265	113431265	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA277140
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
single nucleotide variant	NM_001382.4(DPAGT1):c.584C>G (p.Ala195Gly)	DPAGT1	Pathogenic	11	118971031	118971031	G	C	criteria provided, single submitter	ClinGen:CA279840
single nucleotide variant	NM_005592.4(MUSK):c.2382G>C (p.Glu794Asp)	MUSK	Likely pathogenic	9	113563040	113563040	G	C	criteria provided, single submitter	ClinGen:CA339639
single nucleotide variant	NM_000334.4(SCN4A):c.4343G>C (p.Arg1448Pro)	SCN4A	Pathogenic	17	62019299	62019299	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA350900