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.59460G>A (p.Trp19820Ter)	TTN	Likely pathogenic	2	179457272	179457272	C	T	criteria provided, single submitter	ClinGen:CA349493406
single nucleotide variant	NM_001267550.2(TTN):c.53288-1G>C	TTN	Likely pathogenic	2	179472042	179472042	C	G	criteria provided, single submitter	ClinGen:CA349565409
single nucleotide variant	NM_001267550.2(TTN):c.50661C>A (p.Tyr16887Ter)	TTN	Likely pathogenic	2	179476295	179476295	G	T	criteria provided, single submitter	ClinGen:CA349593760
Duplication	NM_001267550.2(TTN):c.50487_50490dup (p.Glu16831delinsLysTer)	TTN	Likely pathogenic	2	179476545	179476546	C	CATTT	criteria provided, single submitter	ClinGen:CA658795996
single nucleotide variant	NM_001267550.2(TTN):c.49870C>T (p.Arg16624Ter)	TTN	Likely pathogenic	2	179477578	179477578	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA349600656
single nucleotide variant	NM_001267550.2(TTN):c.49858G>T (p.Glu16620Ter)	TTN	Likely pathogenic	2	179477590	179477590	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA349600711
single nucleotide variant	NM_001267550.2(TTN):c.45616G>T (p.Glu15206Ter)	TTN	Likely pathogenic	2	179485829	179485829	C	A	criteria provided, single submitter	ClinGen:CA60993942
single nucleotide variant	NM_001267550.2(TTN):c.2089A>T (p.Lys697Ter)	TTN	Likely pathogenic	2	179650856	179650856	T	A	criteria provided, single submitter	ClinGen:CA349502198
single nucleotide variant	NM_004281.4(BAG3):c.262C>T (p.Gln88Ter)	BAG3	Pathogenic	10	121429444	121429444	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA378294747
Deletion	NM_004281.4(BAG3):c.1034_1038del (p.Glu345fs)	BAG3	Pathogenic	10	121436099	121436103	AGAGGT	A	criteria provided, single submitter	ClinGen:CA658797543