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.15496+1G>T	TTN	Pathogenic/Likely pathogenic	2	179599054	179599054	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16610517
single nucleotide variant	NM_001927.4(DES):c.394C>T (p.Gln132Ter)	DES	Pathogenic	2	220283578	220283578	C	T	criteria provided, single submitter	ClinGen:CA16610670
single nucleotide variant	NM_004281.4(BAG3):c.1345A>T (p.Lys449Ter)	BAG3	Likely pathogenic	10	121436411	121436411	A	T	criteria provided, single submitter	ClinGen:CA16612754
Duplication	NM_004281.4(BAG3):c.607dup (p.Arg203fs)	BAG3	Pathogenic	10	121431865	121431866	G	GC	criteria provided, multiple submitters, no conflicts	ClinGen:CA16612935
single nucleotide variant	NM_004281.4(BAG3):c.1240G>T (p.Glu414Ter)	BAG3	Pathogenic	10	121436306	121436306	G	T	criteria provided, single submitter	ClinGen:CA16613029
single nucleotide variant	NM_001267550.2(TTN):c.107377+5G>A	TTN	Likely pathogenic	2	179392996	179392996	C	T	criteria provided, single submitter	ClinGen:CA1984962
single nucleotide variant	NM_001267550.2(TTN):c.100587G>A (p.Trp33529Ter)	TTN	Pathogenic/Likely pathogenic	2	179400887	179400887	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16617330
single nucleotide variant	NM_001267550.2(TTN):c.99502G>T (p.Glu33168Ter)	TTN	Likely pathogenic	2	179402432	179402432	C	A	criteria provided, single submitter	ClinGen:CA16617331
Duplication	NM_001267550.2(TTN):c.97114dup (p.Arg32372fs)	TTN	Likely pathogenic	2	179407466	179407467	C	CT	criteria provided, multiple submitters, no conflicts	ClinGen:CA16617332
Deletion	NM_001267550.2(TTN):c.95549del (p.Lys31850fs)	TTN	Likely pathogenic	2	179410288	179410288	CT	C	criteria provided, single submitter	ClinGen:CA16617333