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
Indel	NM_001267550.2(TTN):c.73324_73328delinsC (p.Ala24442fs)	TTN	Likely pathogenic	2	179437531	179437535	CAGGC	G	criteria provided, single submitter	ClinGen:CA658796035
single nucleotide variant	NM_001267550.2(TTN):c.82350T>G (p.Tyr27450Ter)	TTN	Likely pathogenic	2	179428509	179428509	A	C	criteria provided, single submitter	ClinGen:CA349573976
single nucleotide variant	NM_001267550.2(TTN):c.60307A>T (p.Arg20103Ter)	TTN	Likely pathogenic	2	179456145	179456145	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA349485552
Deletion	NM_001267550.2(TTN):c.56741del (p.Ser18914fs)	TTN	Likely pathogenic	2	179463696	179463696	AG	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA658796055
single nucleotide variant	NM_001267550.2(TTN):c.58874G>A (p.Trp19625Ter)	TTN	Likely pathogenic	2	179458061	179458061	C	T	criteria provided, single submitter	ClinGen:CA349501161
Duplication	NM_001267550.2(TTN):c.48369dup (p.Glu16124fs)	TTN	Likely pathogenic	2	179480458	179480459	C	CT	criteria provided, single submitter	ClinGen:CA658796073
Duplication	NM_001267550.2(TTN):c.57035dup (p.Leu19013fs)	TTN	Likely pathogenic	2	179463308	179463309	T	TG	criteria provided, single submitter	ClinGen:CA658796048
Deletion	NM_001267550.2(TTN):c.51525del (p.Ser17177fs)	TTN	Pathogenic/Likely pathogenic	2	179474625	179474625	CT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA658795993
Deletion	NM_001267550.2(TTN):c.51648del (p.Glu17217fs)	TTN	Likely pathogenic	2	179474502	179474502	CT	C	criteria provided, single submitter	ClinGen:CA658795992
Deletion	NM_001267550.2(TTN):c.65758_65759del (p.Thr21920fs)	TTN	Likely pathogenic	2	179447771	179447772	GGT	G	criteria provided, single submitter	ClinGen:CA658796012