筋原線維性ミオパチー

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_001458.5(FLNC):c.7780+1G>A	FLNC	Likely pathogenic	7	128497391	128497391	G	A	criteria provided, single submitter	-
Indel	NM_001458.5(FLNC):c.147delinsTCT (p.Lys51fs)	FLNC	Pathogenic	7	128470838	128470838	C	TCT	criteria provided, single submitter	-
single nucleotide variant	NM_001458.5(FLNC):c.699+1G>A	FLNC	Likely pathogenic	7	128477312	128477312	G	A	criteria provided, single submitter	-
Deletion	NM_001458.5(FLNC):c.8107del (p.Asp2703fs)	FLNC	Pathogenic/Likely pathogenic	7	128498503	128498503	AG	A	criteria provided, multiple submitters, no conflicts	OMIM:102565.0018
Deletion	NC_000007.14:g.(?_128830618)_(128858543_?)del	FLNC	Pathogenic	7	128470672	128498597	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_004281.4(BAG3):c.146G>A (p.Trp49Ter)	BAG3	Pathogenic	10	121411333	121411333	G	A	criteria provided, single submitter	-
Duplication	NM_004281.4(BAG3):c.277dup (p.Tyr93fs)	BAG3	Pathogenic	10	121429458	121429459	C	CT	criteria provided, single submitter	-
single nucleotide variant	NM_004281.4(BAG3):c.537C>A (p.Cys179Ter)	BAG3	Pathogenic	10	121431796	121431796	C	A	criteria provided, single submitter	-
single nucleotide variant	NM_001458.5(FLNC):c.3937C>T (p.Arg1313Ter)	FLNC	Pathogenic/Likely pathogenic	7	128486190	128486190	C	T	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_001458.5(FLNC):c.5669-1del	FLNC	Pathogenic	7	128491508	128491508	AG	A	criteria provided, single submitter	OMIM:102565.0014