肥大型心筋症 - MGenReviews

肥大型心筋症

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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.68995del (p.Thr22999fs)	TTN	Likely pathogenic	2	179442067	179442067	GT	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16617358
Duplication	NM_001267550.2(TTN):c.68508dup (p.Val22837fs)	TTN	Pathogenic/Likely pathogenic	2	179442733	179442734	C	CA	criteria provided, multiple submitters, no conflicts	ClinGen:CA16617359
Deletion	NM_001267550.2(TTN):c.68308del (p.Thr22770fs)	TTN	Pathogenic/Likely pathogenic	2	179443359	179443359	GT	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16617361
Deletion	NM_001267550.2(TTN):c.66804_66807del (p.Lys22269fs)	TTN	Likely pathogenic	2	179445299	179445302	TCTTC	T	criteria provided, single submitter	ClinGen:CA16617362
single nucleotide variant	NM_001267550.2(TTN):c.66767T>G (p.Leu22256Ter)	TTN	Likely pathogenic	2	179446228	179446228	A	C	criteria provided, single submitter	ClinGen:CA16617363
Duplication	NM_001267550.2(TTN):c.63164dup (p.Val21056fs)	TTN	Pathogenic	2	179453287	179453288	C	CG	criteria provided, single submitter	ClinGen:CA16617366
single nucleotide variant	NM_001267550.2(TTN):c.60375C>A (p.Tyr20125Ter)	TTN	Likely pathogenic	2	179456077	179456077	G	T	criteria provided, single submitter	ClinGen:CA16617367
Deletion	NM_001267550.2(TTN):c.59402del (p.Gly19801fs)	TTN	Likely pathogenic	2	179457330	179457330	AC	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16617368
Deletion	NM_001267550.2(TTN):c.59201_59202del (p.Pro19734fs)	TTN	Likely pathogenic	2	179457644	179457645	CAG	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA1992702
Deletion	NM_001267550.2(TTN):c.55460_55461del (p.Lys18487fs)	TTN	Pathogenic/Likely pathogenic	2	179466263	179466264	CTT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA16617369