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_001927.4(DES):c.1237G>T (p.Glu413Ter)	DES	Pathogenic	2	220286275	220286275	G	T	criteria provided, single submitter	-
single nucleotide variant	NM_001458.5(FLNC):c.554G>A (p.Trp185Ter)	FLNC	Pathogenic	7	128475581	128475581	G	A	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_001458.5(FLNC):c.1861_1885dup (p.Arg629fs)	FLNC	Pathogenic	7	128481269	128481270	A	ACAAGGGGGATGGCTCCTGCGATGTG	criteria provided, single submitter	-
single nucleotide variant	NM_001458.5(FLNC):c.4729C>T (p.Gln1577Ter)	FLNC	Pathogenic	7	128488763	128488763	C	T	criteria provided, single submitter	-
Deletion	NM_001458.5(FLNC):c.5675_5678del (p.Leu1892fs)	FLNC	Pathogenic	7	128491512	128491515	GGTCT	G	criteria provided, single submitter	-
Duplication	NM_001458.5(FLNC):c.5904dup (p.Ile1969fs)	FLNC	Pathogenic	7	128492705	128492706	A	AG	criteria provided, single submitter	-
Duplication	NM_001458.5(FLNC):c.6242dup (p.Ser2082fs)	FLNC	Pathogenic	7	128493553	128493554	G	GC	criteria provided, single submitter	-
single nucleotide variant	NM_001458.5(FLNC):c.6883C>T (p.Gln2295Ter)	FLNC	Pathogenic	7	128494622	128494622	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001458.5(FLNC):c.7365C>A (p.Tyr2455Ter)	FLNC	Pathogenic	7	128496685	128496685	C	A	criteria provided, single submitter	-
single nucleotide variant	NM_004281.4(BAG3):c.514C>T (p.Gln172Ter)	BAG3	Pathogenic	10	121431773	121431773	C	T	criteria provided, single submitter	-