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.2926T>C (p.Trp976Arg)	TTN	Likely pathogenic	2	179647707	179647707	A	G	criteria provided, single submitter	ClinGen:CA256496,UniProtKB:Q8WZ42#VAR_026689,OMIM:188840.0003
single nucleotide variant	NM_001267550.2(TTN):c.107867T>C (p.Leu35956Pro)	TTN	Likely pathogenic	2	179391848	179391848	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA341209,OMIM:188840.0005
single nucleotide variant	NM_001458.5(FLNC):c.752T>C (p.Met251Thr)	FLNC	Likely pathogenic	7	128477504	128477504	T	C	criteria provided, single submitter	ClinGen:CA128477,UniProtKB:Q14315#VAR_066213,OMIM:102565.0003
single nucleotide variant	NM_004281.4(BAG3):c.1385T>C (p.Leu462Pro)	BAG3	Likely pathogenic	10	121436451	121436451	T	C	criteria provided, single submitter	ClinGen:CA261131,UniProtKB:O95817#VAR_066786,OMIM:603883.0008
single nucleotide variant	NM_001289808.2(CRYAB):c.166C>T (p.Arg56Trp)	CRYAB	Likely pathogenic	11	111782283	111782283	G	A	criteria provided, single submitter	ClinGen:CA130927,OMIM:123590.0010
Deletion	NM_001267550.2(TTN):c.46069_46070del (p.Met15357fs)	TTN	Likely pathogenic	2	179485178	179485179	CAT	C	criteria provided, single submitter	ClinGen:CA261859
single nucleotide variant	NM_001267550.2(TTN):c.46773T>A (p.Tyr15591Ter)	TTN	Likely pathogenic	2	179483504	179483504	A	T	criteria provided, single submitter	ClinGen:CA261860
single nucleotide variant	NM_001267550.2(TTN):c.46782C>A (p.Tyr15594Ter)	TTN	Likely pathogenic	2	179483495	179483495	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA261864
single nucleotide variant	NM_001267550.2(TTN):c.47506C>T (p.Gln15836Ter)	TTN	Likely pathogenic	2	179482572	179482572	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA261868
single nucleotide variant	NM_001267550.2(TTN):c.50618G>A (p.Trp16873Ter)	TTN	Likely pathogenic	2	179476338	179476338	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA261872