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.86642del (p.His28881fs)	TTN	Likely pathogenic	2	179424217	179424217	GT	G	criteria provided, single submitter	-
single nucleotide variant	NM_001267550.2(TTN):c.85713G>A (p.Trp28571Ter)	TTN	Likely pathogenic	2	179425146	179425146	C	T	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_001267550.2(TTN):c.85640_85652del (p.Pro28547fs)	TTN	Likely pathogenic	2	179425207	179425219	TGGAACTGTAAATG	T	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_001267550.2(TTN):c.80679del (p.Gly26894fs)	TTN	Likely pathogenic	2	179430180	179430180	CA	C	criteria provided, single submitter	-
single nucleotide variant	NM_001267550.2(TTN):c.72227T>A (p.Leu24076Ter)	TTN	Likely pathogenic	2	179438632	179438632	A	T	criteria provided, single submitter	-
Deletion	NM_001267550.2(TTN):c.64098del (p.Glu21366fs)	TTN	Likely pathogenic	2	179451530	179451530	GC	G	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_001267550.2(TTN):c.61339del (p.Arg20446_Ile20447insTer)	TTN	Likely pathogenic	2	179455113	179455113	AT	A	criteria provided, single submitter	-
single nucleotide variant	NM_001267550.2(TTN):c.53432G>A (p.Trp17811Ter)	TTN	Likely pathogenic	2	179471897	179471897	C	T	criteria provided, single submitter	-
Deletion	NM_001267550.2(TTN):c.52242del (p.Asp17415fs)	TTN	Likely pathogenic	2	179473496	179473496	CG	C	criteria provided, single submitter	-
single nucleotide variant	NM_001267550.2(TTN):c.49171C>T (p.Arg16391Ter)	TTN	Likely pathogenic	2	179478953	179478953	G	A	criteria provided, multiple submitters, no conflicts	-