筋原線維性ミオパチー

小児・神経疾患

表のタイトル行が青色の項目は、クリックすることでソートすることができます。

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	NC_000002.12:g.(?_178528254)_(178544135_?)del	TTN	Likely pathogenic	2	179392981	179408862	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_001267550.2(TTN):c.104515C>T (p.Arg34839Ter)	TTN	Likely pathogenic	2	179396827	179396827	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA349411489
Deletion	NM_001267550.2(TTN):c.103336del (p.Ser34446fs)	TTN	Likely pathogenic	2	179398006	179398006	CT	C	criteria provided, single submitter	ClinGen:CA658795985
Deletion	NM_001267550.2(TTN):c.94939del (p.Ile31647fs)	TTN	Likely pathogenic	2	179411119	179411119	AT	A	criteria provided, single submitter	ClinGen:CA658795979
Deletion	NM_001267550.2(TTN):c.98660del (p.Pro32887fs)	TTN	Likely pathogenic	2	179404132	179404132	TG	T	criteria provided, single submitter	ClinGen:CA658795964
single nucleotide variant	NM_001267550.2(TTN):c.91669C>T (p.Arg30557Ter)	TTN	Likely pathogenic	2	179414896	179414896	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA349499329
Duplication	NM_001267550.2(TTN):c.90594dup (p.Gly30199fs)	TTN	Likely pathogenic	2	179417032	179417033	C	CA	criteria provided, single submitter	ClinGen:CA658795970
single nucleotide variant	NM_001267550.2(TTN):c.92797C>T (p.Gln30933Ter)	TTN	Likely pathogenic	2	179413556	179413556	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA349490836
single nucleotide variant	NM_001267550.2(TTN):c.94220-1G>A	TTN	Likely pathogenic	2	179412033	179412033	C	T	criteria provided, single submitter	ClinGen:CA349476428
Deletion	NM_001267550.2(TTN):c.103518del (p.Ala34507fs)	TTN	Likely pathogenic	2	179397824	179397824	CA	C	criteria provided, single submitter	ClinGen:CA658795984