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.7561+1G>A	FLNC	Likely pathogenic	7	128496976	128496976	G	A	criteria provided, single submitter	-
single nucleotide variant	NM_001458.5(FLNC):c.7687T>C (p.Tyr2563His)	FLNC	Likely pathogenic	7	128497297	128497297	T	C	criteria provided, single submitter	-
Deletion	NM_001458.5(FLNC):c.477_478del (p.Gln159fs)	FLNC	Likely pathogenic	7	128475503	128475504	CAG	C	criteria provided, single submitter	-
Duplication	NM_001458.5(FLNC):c.2795dup (p.Tyr932Ter)	FLNC	Likely pathogenic	7	128483614	128483615	T	TA	criteria provided, single submitter	-
single nucleotide variant	NM_001458.5(FLNC):c.5478T>G (p.Tyr1826Ter)	FLNC	Pathogenic/Likely pathogenic	7	128490936	128490936	T	G	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001458.5(FLNC):c.4969C>T (p.Arg1657Ter)	FLNC	Pathogenic/Likely pathogenic	7	128489402	128489402	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001458.5(FLNC):c.4021C>T (p.Arg1341Ter)	FLNC	Pathogenic/Likely pathogenic	7	128486411	128486411	C	T	criteria provided, multiple submitters, no conflicts	-
Indel	NM_001458.5(FLNC):c.7562-15_7637delinsGAGG	FLNC	Pathogenic	7	128497157	128497247	ACCTCTGGCCCCCAGGTGTGTCATCAGAGTTCATCGTGAACACCCTGAATGCCGGCTCGGGGGCCTTGTCTGTCACCATTGATGGCCCCTC	GAGG	criteria provided, single submitter	-
single nucleotide variant	NM_001458.5(FLNC):c.8076C>A (p.Tyr2692Ter)	FLNC	Pathogenic/Likely pathogenic	7	128498475	128498475	C	A	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