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_001267550.2(TTN):c.60375C>A (p.Tyr20125Ter)	TTN	Likely pathogenic	2	179456077	179456077	G	T	criteria provided, single submitter	ClinGen:CA16617367
Deletion	NM_001267550.2(TTN):c.59402del (p.Gly19801fs)	TTN	Likely pathogenic	2	179457330	179457330	AC	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16617368
Deletion	NM_001267550.2(TTN):c.59201_59202del (p.Pro19734fs)	TTN	Likely pathogenic	2	179457644	179457645	CAG	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA1992702
Deletion	NM_001267550.2(TTN):c.55460_55461del (p.Lys18487fs)	TTN	Pathogenic/Likely pathogenic	2	179466263	179466264	CTT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA16617369
Duplication	NM_001267550.2(TTN):c.54809dup (p.Phe18271fs)	TTN	Likely pathogenic	2	179468604	179468605	T	TA	criteria provided, multiple submitters, no conflicts	ClinGen:CA16617370
Duplication	NM_001267550.2(TTN):c.52550_52554dup (p.Val17519fs)	TTN	Pathogenic	2	179473055	179473056	C	CACGAG	criteria provided, single submitter	ClinGen:CA16617372
Deletion	NM_001267550.2(TTN):c.50069del (p.Lys16690fs)	TTN	Likely pathogenic	2	179477183	179477183	CT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA16617373
Deletion	NM_001267550.2(TTN):c.48379_48382del (p.Phe16127fs)	TTN	Pathogenic	2	179480446	179480449	TTAAA	T	criteria provided, single submitter	ClinGen:CA16617374
single nucleotide variant	NM_001927.4(DES):c.130G>A (p.Gly44Ser)	DES	Likely pathogenic	2	220283314	220283314	G	A	criteria provided, single submitter	ClinGen:CA16617477
single nucleotide variant	NM_001458.5(FLNC):c.1948C>T (p.Arg650Ter)	FLNC	Pathogenic	7	128481358	128481358	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16618351