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.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
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.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.601C>T (p.Arg201Ter)	DOK7	Pathogenic	4	3487334	3487334	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA251739,OMIM:610285.0007
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
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
single nucleotide variant	NM_002334.4(LRP4):c.409G>A (p.Asp137Asn)	LRP4	Likely pathogenic	11	46921435	46921435	C	T	criteria provided, single submitter	ClinGen:CA117685,UniProtKB:O75096#VAR_063776,OMIM:604270.0002
single nucleotide variant	NM_002334.4(LRP4):c.547+1G>A	LRP4	Likely pathogenic	11	46920937	46920937	C	T	criteria provided, single submitter	OMIM:604270.0003
single nucleotide variant	NM_000334.4(SCN4A):c.2111C>T (p.Thr704Met)	SCN4A	Pathogenic	17	62034787	62034787	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA117833,UniProtKB:P35499#VAR_001562,OMIM:603967.0001