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_005677.4(COLQ):c.718G>T (p.Gly240Ter)	COLQ	Pathogenic	3	15507944	15507944	C	A	criteria provided, single submitter	ClinGen:CA118398,OMIM:603033.0010
single nucleotide variant	NM_005055.5(RAPSN):c.264C>A (p.Asn88Lys)	RAPSN	Pathogenic/Likely pathogenic	11	47469631	47469631	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA199511,UniProtKB:Q13702#VAR_021217,OMIM:601592.0001
single nucleotide variant	NM_005055.5(RAPSN):c.41T>C (p.Leu14Pro)	RAPSN	Pathogenic	11	47470476	47470476	A	G	criteria provided, single submitter	ClinGen:CA119252,UniProtKB:Q13702#VAR_021216,OMIM:601592.0002
Duplication	NM_005055.5(RAPSN):c.549_553dup (p.Phe185fs)	RAPSN	Pathogenic/Likely pathogenic	11	47464344	47464345	A	AAGAAC	criteria provided, multiple submitters, no conflicts	ClinGen:CA212885,OMIM:601592.0003
single nucleotide variant	NM_005055.5(RAPSN):c.-210A>G	RAPSN	Pathogenic/Likely pathogenic	11	47470726	47470726	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA212886,OMIM:601592.0006
single nucleotide variant	NM_005055.5(RAPSN):c.490C>T (p.Arg164Cys)	RAPSN	Pathogenic/Likely pathogenic	11	47469405	47469405	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA119256,UniProtKB:Q13702#VAR_043901,OMIM:601592.0009
single nucleotide variant	NM_005055.5(RAPSN):c.133G>A (p.Val45Met)	RAPSN	Pathogenic/Likely pathogenic	11	47470384	47470384	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA119257,UniProtKB:Q13702#VAR_043898,OMIM:601592.0010
single nucleotide variant	NM_005055.5(RAPSN):c.484G>A (p.Glu162Lys)	RAPSN	Pathogenic	11	47469411	47469411	C	T	criteria provided, single submitter	ClinGen:CA119258,UniProtKB:Q13702#VAR_043900,OMIM:601592.0011
single nucleotide variant	NM_020549.5(CHAT):c.631C>G (p.Pro211Ala)	CHAT	Pathogenic	10	50828592	50828592	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA257975,UniProtKB:P28329#VAR_011667,OMIM:118490.0002
single nucleotide variant	NM_020549.5(CHAT):c.1444A>G (p.Arg482Gly)	CHAT	Likely pathogenic	10	50857615	50857615	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA257984,UniProtKB:P28329#VAR_011671,OMIM:118490.0005