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
Deletion	NM_001267550.2(TTN):c.64098del (p.Glu21366fs)	TTN	Likely pathogenic	2	179451530	179451530	GC	G	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_001267550.2(TTN):c.61339del (p.Arg20446_Ile20447insTer)	TTN	Likely pathogenic	2	179455113	179455113	AT	A	criteria provided, single submitter	-
single nucleotide variant	NM_001267550.2(TTN):c.53432G>A (p.Trp17811Ter)	TTN	Likely pathogenic	2	179471897	179471897	C	T	criteria provided, single submitter	-
Deletion	NM_001267550.2(TTN):c.52242del (p.Asp17415fs)	TTN	Likely pathogenic	2	179473496	179473496	CG	C	criteria provided, single submitter	-
single nucleotide variant	NM_001267550.2(TTN):c.49171C>T (p.Arg16391Ter)	TTN	Likely pathogenic	2	179478953	179478953	G	A	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_001267550.2(TTN):c.49004dup (p.Asn16335fs)	TTN	Likely pathogenic	2	179479236	179479237	A	AT	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001267550.2(TTN):c.41383G>T (p.Gly13795Ter)	TTN	Likely pathogenic	2	179500915	179500915	C	A	criteria provided, single submitter	-
single nucleotide variant	NM_001267550.2(TTN):c.9577C>T (p.Arg3193Ter)	TTN	Pathogenic/Likely pathogenic	2	179631234	179631234	G	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_001458.5(FLNC):c.477_478del (p.Gln159fs)	FLNC	Likely pathogenic	7	128475503	128475504	CAG	C	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	-