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_001927.4(DES):c.735G>C (p.Glu245Asp)	DES	Pathogenic/Likely pathogenic	2	220285068	220285068	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA217085,UniProtKB:P17661#VAR_042452
single nucleotide variant	NM_001458.5(FLNC):c.4060C>T (p.Arg1354Ter)	FLNC	Pathogenic	7	128486450	128486450	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001267550.2(TTN):c.57692G>A (p.Trp19231Ter)	TTN	Likely pathogenic	2	179460389	179460389	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_001267550.2(TTN):c.98606G>C (p.Arg32869Pro)	TTN	Likely pathogenic	2	179404186	179404186	C	G	criteria provided, single submitter	ClinGen:CA269799
single nucleotide variant	NM_001267550.2(TTN):c.95134T>C (p.Cys31712Arg)	TTN	Pathogenic	2	179410829	179410829	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA358820,OMIM:188840.0016
single nucleotide variant	NM_001267550.2(TTN):c.95185T>C (p.Trp31729Arg)	TTN	Pathogenic	2	179410778	179410778	A	G	criteria provided, single submitter	ClinGen:CA358822
single nucleotide variant	NM_001267550.2(TTN):c.95195C>T (p.Pro31732Leu)	TTN	Pathogenic/Likely pathogenic	2	179410768	179410768	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA358828
Deletion	NM_001267550.2(TTN):c.66975_66978del (p.Lys22326fs)	TTN	Likely pathogenic	2	179445128	179445131	ATTTG	A	criteria provided, single submitter	ClinGen:CA345901
single nucleotide variant	NM_004281.4(BAG3):c.626C>A (p.Pro209Gln)	BAG3	Pathogenic	10	121431885	121431885	C	A	criteria provided, single submitter	ClinGen:CA170913,OMIM:603883.0010
Deletion	NM_001267550.2(TTN):c.100026_100030del (p.Ser33344fs)	TTN	Likely pathogenic	2	179401806	179401810	GAAGAC	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA273248