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.51821C>A (p.Ser17274Ter)	TTN	Pathogenic	2	179474216	179474216	G	T	criteria provided, single submitter	ClinGen:CA309258
single nucleotide variant	NM_001267550.2(TTN):c.51127A>T (p.Lys17043Ter)	TTN	Pathogenic/Likely pathogenic	2	179475729	179475729	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA309254
single nucleotide variant	NM_001267550.2(TTN):c.50860A>T (p.Lys16954Ter)	TTN	Pathogenic/Likely pathogenic	2	179475996	179475996	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA309251
single nucleotide variant	NM_001267550.2(TTN):c.50821G>T (p.Glu16941Ter)	TTN	Pathogenic	2	179476135	179476135	C	A	criteria provided, single submitter	ClinGen:CA309248
single nucleotide variant	NM_001267550.2(TTN):c.50552-2A>G	TTN	Likely pathogenic	2	179476406	179476406	T	C	criteria provided, single submitter	ClinGen:CA309247
Duplication	NM_001267550.2(TTN):c.50428_50431dup (p.Phe16811Ter)	TTN	Pathogenic	2	179476604	179476605	A	AAGTT	criteria provided, single submitter	ClinGen:CA309409
single nucleotide variant	NM_001267550.2(TTN):c.50296C>T (p.Arg16766Ter)	TTN	Pathogenic/Likely pathogenic	2	179476842	179476842	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA309244
single nucleotide variant	NM_001267550.2(TTN):c.50170C>T (p.Arg16724Ter)	TTN	Pathogenic/Likely pathogenic	2	179477082	179477082	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA309241
Duplication	NM_001267550.2(TTN):c.50134_50137dup (p.Thr16713fs)	TTN	Likely pathogenic	2	179477114	179477115	G	GTGAC	criteria provided, multiple submitters, no conflicts	ClinGen:CA309408
single nucleotide variant	NM_001267550.2(TTN):c.50083C>T (p.Arg16695Ter)	TTN	Pathogenic/Likely pathogenic	2	179477169	179477169	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA309238