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_004281.4(BAG3):c.625C>T (p.Pro209Ser)	BAG3	Pathogenic/Likely pathogenic	10	121431884	121431884	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001267550.2(TTN):c.85969A>T (p.Lys28657Ter)	TTN	Pathogenic/Likely pathogenic	2	179424890	179424890	T	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001267550.2(TTN):c.88825C>T (p.Arg29609Ter)	TTN	Pathogenic/Likely pathogenic	2	179419249	179419249	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001267550.2(TTN):c.9577C>T (p.Arg3193Ter)	TTN	Pathogenic/Likely pathogenic	2	179631234	179631234	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001458.5(FLNC):c.5478T>G (p.Tyr1826Ter)	FLNC	Pathogenic/Likely pathogenic	7	128490936	128490936	T	G	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001458.5(FLNC):c.4969C>T (p.Arg1657Ter)	FLNC	Pathogenic/Likely pathogenic	7	128489402	128489402	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001458.5(FLNC):c.4021C>T (p.Arg1341Ter)	FLNC	Pathogenic/Likely pathogenic	7	128486411	128486411	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001267550.2(TTN):c.70714C>T (p.Gln23572Ter)	TTN	Pathogenic/Likely pathogenic	2	179440145	179440145	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001267550.2(TTN):c.83104C>T (p.Arg27702Ter)	TTN	Pathogenic/Likely pathogenic	2	179427755	179427755	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001267550.2(TTN):c.38737G>T (p.Glu12913Ter)	TTN	Pathogenic/Likely pathogenic	2	179518019	179518019	C	A	criteria provided, multiple submitters, no conflicts	-