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.70000del (p.Glu23334fs)	TTN	Pathogenic/Likely pathogenic	2	179440859	179440859	TC	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA645369274
Deletion	NM_001267550.2(TTN):c.75663del (p.Lys25221fs)	TTN	Pathogenic/Likely pathogenic	2	179435196	179435196	AT	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA538435329
Deletion	NM_001267550.2(TTN):c.81243_81261del (p.Thr27082fs)	TTN	Pathogenic/Likely pathogenic	2	179429598	179429616	GATCTTTTGAGATTGATGTC	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA1989233
single nucleotide variant	NM_001267550.2(TTN):c.89197+1G>C	TTN	Pathogenic/Likely pathogenic	2	179418640	179418640	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA349520239
single nucleotide variant	NM_001458.5(FLNC):c.3557C>T (p.Ala1186Val)	FLNC	Pathogenic/Likely pathogenic	7	128485076	128485076	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA369197234
single nucleotide variant	NM_001267550.2(TTN):c.59977G>T (p.Glu19993Ter)	TTN	Pathogenic/Likely pathogenic	2	179456569	179456569	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA349488139
single nucleotide variant	NM_001458.5(FLNC):c.3791-1G>C	FLNC	Pathogenic/Likely pathogenic	7	128486043	128486043	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA4475142
Deletion	NM_001458.5(FLNC):c.3180del (p.Asp1061fs)	FLNC	Pathogenic/Likely pathogenic	7	128484308	128484308	CT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA16618352
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
Deletion	NM_001267550.2(TTN):c.68308del (p.Thr22770fs)	TTN	Pathogenic/Likely pathogenic	2	179443359	179443359	GT	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16617361