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	NM_001267550.2(TTN):c.90653_90654del (p.Thr30218fs)	TTN	Likely pathogenic	2	179416973	179416974	CTG	C	criteria provided, single submitter	ClinGen:CA309454
single nucleotide variant	NM_001267550.2(TTN):c.89280T>A (p.Tyr29760Ter)	TTN	Pathogenic/Likely pathogenic	2	179418452	179418452	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA309511
Deletion	NM_001267550.2(TTN):c.89270del (p.Lys29757fs)	TTN	Pathogenic	2	179418462	179418462	CT	C	criteria provided, single submitter	ClinGen:CA309453
Duplication	NM_001267550.2(TTN):c.89006dup (p.Leu29670fs)	TTN	Pathogenic/Likely pathogenic	2	179418831	179418832	G	GA	criteria provided, multiple submitters, no conflicts	ClinGen:CA309452
single nucleotide variant	NM_001267550.2(TTN):c.88837A>T (p.Lys29613Ter)	TTN	Pathogenic/Likely pathogenic	2	179419237	179419237	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA309364
Deletion	NM_001267550.2(TTN):c.88703_88704del (p.His29568fs)	TTN	Pathogenic/Likely pathogenic	2	179419370	179419371	AGT	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA309451
Deletion	NM_001267550.2(TTN):c.87848del (p.Leu29283fs)	TTN	Likely pathogenic	2	179422141	179422141	TA	T	criteria provided, single submitter	ClinGen:CA309450
Deletion	NM_001267550.2(TTN):c.87820del (p.Leu29274fs)	TTN	Pathogenic	2	179422169	179422169	AG	A	criteria provided, single submitter	ClinGen:CA309449
single nucleotide variant	NM_001267550.2(TTN):c.87751C>T (p.Arg29251Ter)	TTN	Pathogenic/Likely pathogenic	2	179422238	179422238	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA309361
Indel	NM_001267550.2(TTN):c.87418_87419delinsTGTTATTAGTGATATATCTAA (p.Pro29140delinsCysTyrTer)	TTN	Pathogenic	2	179422662	179422663	GG	TTAGATATATCACTAATAACA	criteria provided, single submitter	ClinGen:CA309448