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.75250C>T (p.Arg25084Ter)	TTN	Pathogenic/Likely pathogenic	2	179435609	179435609	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA309315
single nucleotide variant	NM_001267550.2(TTN):c.74338C>T (p.Arg24780Ter)	TTN	Pathogenic/Likely pathogenic	2	179436521	179436521	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA309312
single nucleotide variant	NM_001267550.2(TTN):c.73846C>T (p.Arg24616Ter)	TTN	Pathogenic/Likely pathogenic	2	179437013	179437013	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA309309
Deletion	NM_001267550.2(TTN):c.72848_72849del (p.Lys24283fs)	TTN	Pathogenic	2	179438010	179438011	CTT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA309430
Indel	NM_001267550.2(TTN):c.71980_71986delinsTA (p.Ala23994_Glu23996delinsTer)	TTN	Pathogenic/Likely pathogenic	2	179438873	179438879	CATATGC	TA	criteria provided, multiple submitters, no conflicts	ClinGen:CA309429
Deletion	NM_001267550.2(TTN):c.71639del (p.Ala23879_Leu23880insTer)	TTN	Pathogenic	2	179439220	179439220	TA	T	criteria provided, single submitter	ClinGen:CA309428
single nucleotide variant	NM_001267550.2(TTN):c.71563G>T (p.Gly23855Ter)	TTN	Pathogenic/Likely pathogenic	2	179439296	179439296	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA309495
Deletion	NM_001267550.2(TTN):c.70832del (p.Ala23611fs)	TTN	Pathogenic	2	179440027	179440027	CG	C	criteria provided, single submitter	ClinGen:CA309424
single nucleotide variant	NM_001267550.2(TTN):c.70162C>T (p.Arg23388Ter)	TTN	Pathogenic/Likely pathogenic	2	179440697	179440697	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA309303
single nucleotide variant	NM_001267550.2(TTN):c.69716-1G>T	TTN	Pathogenic	2	179441144	179441144	C	A	criteria provided, single submitter	ClinGen:CA309302