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_001267550.2(TTN):c.84311_84312del (p.Ile28104fs)	TTN	Likely pathogenic	2	179426547	179426548	CTA	C	criteria provided, single submitter	ClinGen:CA658796001
Duplication	NM_001267550.2(TTN):c.57300_57303dup (p.Ile19102Ter)	TTN	Likely pathogenic	2	179462505	179462506	T	TTCTA	criteria provided, single submitter	ClinGen:CA658796045
Deletion	NM_001267550.2(TTN):c.48963_48966del (p.Ser16321fs)	TTN	Likely pathogenic	2	179479275	179479278	TCTTA	T	criteria provided, single submitter	ClinGen:CA658796071
single nucleotide variant	NM_001267550.2(TTN):c.90706G>T (p.Glu30236Ter)	TTN	Pathogenic	2	179416921	179416921	C	A	criteria provided, single submitter	ClinGen:CA349507301
Duplication	NM_001267550.2(TTN):c.78947dup (p.Ser26317fs)	TTN	Pathogenic	2	179431911	179431912	G	GC	criteria provided, single submitter	ClinGen:CA658796027
Duplication	NM_001267550.2(TTN):c.76904dup (p.Asn25635fs)	TTN	Pathogenic	2	179433954	179433955	A	AT	criteria provided, single submitter	ClinGen:CA658796028
Deletion	NM_001267550.2(TTN):c.72826del (p.Thr24276fs)	TTN	Pathogenic/Likely pathogenic	2	179438033	179438033	GT	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA658796037
Deletion	NM_001267550.2(TTN):c.72347del (p.Asn24116fs)	TTN	Pathogenic	2	179438512	179438512	AT	A	criteria provided, single submitter	ClinGen:CA658796039
Deletion	NM_001267550.2(TTN):c.69880del (p.Thr23294fs)	TTN	Pathogenic	2	179440979	179440979	GT	G	criteria provided, single submitter	ClinGen:CA658796007
Insertion	NM_001267550.2(TTN):c.68923_68924insT (p.Pro22975fs)	TTN	Pathogenic	2	179442138	179442139	G	GA	criteria provided, single submitter	ClinGen:CA658796008