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.54190+1G>A	TTN	Pathogenic/Likely pathogenic	2	179469713	179469713	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA1993679
Deletion	NM_001267550.2(TTN):c.51459_51462del (p.Asp17153fs)	TTN	Likely pathogenic	2	179474688	179474691	CTACA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10605859
Duplication	NM_001267550.2(TTN):c.99919_99920dup (p.Ala33308fs)	TTN	Likely pathogenic	2	179401915	179401916	G	GGA	criteria provided, multiple submitters, no conflicts	ClinGen:CA10606032
single nucleotide variant	NM_001267550.2(TTN):c.105754C>T (p.Arg35252Ter)	TTN	Pathogenic/Likely pathogenic	2	179395588	179395588	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10606117
single nucleotide variant	NM_001267550.2(TTN):c.47629C>T (p.Gln15877Ter)	TTN	Likely pathogenic	2	179482183	179482183	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10606226
Duplication	NM_001267550.2(TTN):c.78197dup (p.Tyr26066Ter)	TTN	Likely pathogenic	2	179432661	179432662	A	AT	criteria provided, multiple submitters, no conflicts	ClinGen:CA10606327
Deletion	NM_001267550.2(TTN):c.56294del (p.Thr18765fs)	TTN	Likely pathogenic	2	179464334	179464334	TG	T	criteria provided, single submitter	ClinGen:CA10606343
Deletion	NM_001267550.2(TTN):c.90561del (p.Thr30188fs)	TTN	Likely pathogenic	2	179417066	179417066	TA	T	criteria provided, single submitter	ClinGen:CA10606611
Duplication	NM_001267550.2(TTN):c.106137dup (p.Lys35380Ter)	TTN	Pathogenic/Likely pathogenic	2	179395204	179395205	T	TA	criteria provided, multiple submitters, no conflicts	ClinGen:CA10606783
Deletion	NM_003319.4(TTN):c.63060_63061del (p.Thr21020_Cys21021insTer)	TTN	Pathogenic/Likely pathogenic	2	179417371	179417372	CAT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA1987810