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
Indel	NM_001267550.2(TTN):c.97532_97534delinsA (p.Val32511fs)	TTN	Pathogenic	2	179406270	179406272	AAA	T	criteria provided, single submitter	ClinGen:CA309460
Deletion	NM_001267550.2(TTN):c.97523_97527del (p.Ile32508fs)	TTN	Pathogenic/Likely pathogenic	2	179406277	179406281	CAAATA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA309546
Duplication	NM_001267550.2(TTN):c.97129_97130dup (p.Leu32379fs)	TTN	Likely pathogenic	2	179407450	179407451	G	GTA	criteria provided, multiple submitters, no conflicts	ClinGen:CA309459
Duplication	NM_001267550.2(TTN):c.97050dup (p.Glu32351fs)	TTN	Pathogenic/Likely pathogenic	2	179407530	179407531	C	CT	criteria provided, multiple submitters, no conflicts	ClinGen:CA309458
single nucleotide variant	NM_001267550.2(TTN):c.96697C>T (p.Arg32233Ter)	TTN	Likely pathogenic	2	179408003	179408003	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA309517
Deletion	NM_001267550.2(TTN):c.95770del (p.His31924fs)	TTN	Pathogenic/Likely pathogenic	2	179409186	179409186	TG	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA309457
single nucleotide variant	NM_001267550.2(TTN):c.94162A>T (p.Arg31388Ter)	TTN	Pathogenic	2	179412191	179412191	T	A	criteria provided, single submitter	ClinGen:CA309370
Deletion	NM_001267550.2(TTN):c.94103_94107del (p.Ile31368fs)	TTN	Pathogenic/Likely pathogenic	2	179412246	179412250	CTTTAA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA309456
single nucleotide variant	NM_001267550.2(TTN):c.92317C>T (p.Arg30773Ter)	TTN	Pathogenic/Likely pathogenic	2	179414036	179414036	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA309367
Deletion	NM_001267550.2(TTN):c.91875del (p.Pro30626fs)	TTN	Pathogenic/Likely pathogenic	2	179414574	179414574	GC	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA309455