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
Deletion	NM_001244710.2(GFPT1):c.197_201del (p.Val66fs)	GFPT1	Pathogenic	2	69597155	69597159	CCTTAA	C	criteria provided, single submitter	-
single nucleotide variant	NM_001244710.2(GFPT1):c.331C>T (p.Arg111Cys)	GFPT1	Pathogenic/Likely pathogenic	2	69590695	69590695	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA128605,UniProtKB:Q06210#VAR_065342,OMIM:138292.0001
single nucleotide variant	NM_001244710.2(GFPT1):c.686-2A>G	GFPT1	Pathogenic	2	69581446	69581446	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA49524691
single nucleotide variant	NM_001244710.2(GFPT1):c.719G>A (p.Trp240Ter)	GFPT1	Pathogenic	2	69581411	69581411	C	T	criteria provided, single submitter	OMIM:138292.0003
single nucleotide variant	NM_001244710.2(GFPT1):c.982C>T (p.Gln328Ter)	GFPT1	Pathogenic	2	69575330	69575330	G	A	criteria provided, single submitter	-
single nucleotide variant	NM_001244710.2(GFPT1):c.1105+1G>A	GFPT1	Likely pathogenic	2	69573035	69573035	C	T	criteria provided, single submitter	ClinGen:CA347126168
single nucleotide variant	NM_000334.4(SCN4A):c.664C>T (p.Arg222Trp)	SCN4A	Pathogenic/Likely pathogenic	17	62048561	62048561	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA345718,UniProtKB:P35499#VAR_054935
single nucleotide variant	NM_000334.4(SCN4A):c.692C>T (p.Thr231Met)	SCN4A	Likely pathogenic	17	62048533	62048533	G	A	criteria provided, single submitter	ClinGen:CA292972551
single nucleotide variant	NM_000334.4(SCN4A):c.749T>C (p.Leu250Pro)	SCN4A	Pathogenic/Likely pathogenic	17	62045670	62045670	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16607433
single nucleotide variant	NM_000334.4(SCN4A):c.808C>A (p.Gln270Lys)	SCN4A	Pathogenic	17	62045611	62045611	G	T	criteria provided, single submitter	-