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
Deletion	NM_004281.4(BAG3):c.339del (p.Tyr114fs)	BAG3	Likely pathogenic	10	121429521	121429521	TC	T	criteria provided, single submitter	-
single nucleotide variant	NM_001458.5(FLNC):c.7561+1G>A	FLNC	Likely pathogenic	7	128496976	128496976	G	A	criteria provided, single submitter	-
Deletion	NM_001267550.2(TTN):c.55541_55542del (p.Tyr18514fs)	TTN	Likely pathogenic	2	179466182	179466183	CAT	C	criteria provided, single submitter	-
Duplication	NM_004281.4(BAG3):c.1418dup (p.Ala474fs)	BAG3	Likely pathogenic	10	121436483	121436484	C	CG	criteria provided, single submitter	-
Duplication	NM_133379.5(TTN):c.14304dup (p.Ala4769fs)	TTN	Likely pathogenic	2	179612822	179612823	C	CT	criteria provided, single submitter	-
single nucleotide variant	NM_001267550.2(TTN):c.107284C>T (p.Arg35762Ter)	TTN	Likely pathogenic	2	179393094	179393094	G	A	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_001267550.2(TTN):c.106114_106115dup (p.Leu35372fs)	TTN	Likely pathogenic	2	179395226	179395227	T	TAA	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001267550.2(TTN):c.103453G>T (p.Glu34485Ter)	TTN	Likely pathogenic	2	179397889	179397889	C	A	criteria provided, single submitter	-
single nucleotide variant	NM_001267550.2(TTN):c.102916A>T (p.Lys34306Ter)	TTN	Likely pathogenic	2	179398426	179398426	T	A	criteria provided, single submitter	-
Deletion	NM_001267550.2(TTN):c.101230del (p.Glu33744fs)	TTN	Likely pathogenic	2	179400112	179400112	TC	T	criteria provided, single submitter	-