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
single nucleotide variant	NM_001267550.2(TTN):c.89839C>T (p.Arg29947Ter)	TTN	Likely pathogenic	2	179417788	179417788	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA273662
Deletion	NM_001267550.2(TTN):c.87516del (p.Tyr29173fs)	TTN	Likely pathogenic	2	179422565	179422565	AG	A	criteria provided, single submitter	ClinGen:CA273252
Deletion	NM_001267550.2(TTN):c.86799_86802del (p.Glu28935_Gly28936insTer)	TTN	Pathogenic/Likely pathogenic	2	179424057	179424060	CCTTT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA273624
Deletion	NM_001267550.2(TTN):c.83407del (p.Val27803fs)	TTN	Likely pathogenic	2	179427452	179427452	AC	A	criteria provided, single submitter	ClinGen:CA273613
Deletion	NM_001267550.2(TTN):c.81878_81879del (p.Phe27293fs)	TTN	Pathogenic/Likely pathogenic	2	179428980	179428981	CAA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA273591
single nucleotide variant	NM_001267550.2(TTN):c.81321C>G (p.Tyr27107Ter)	TTN	Pathogenic/Likely pathogenic	2	179429538	179429538	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA273651
Deletion	NM_001267550.2(TTN):c.49648+2del	TTN	Pathogenic	2	179477886	179477886	TA	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA273623
single nucleotide variant	NM_001267550.2(TTN):c.45895+1G>A	TTN	Likely pathogenic	2	179485441	179485441	C	T	criteria provided, single submitter	ClinGen:CA273576
Deletion	NM_001267550.2(TTN):c.30484_30493del (p.Thr10162fs)	TTN	Likely pathogenic	2	179566913	179566922	AGCTCTGCCGT	A	criteria provided, single submitter	ClinGen:CA273551
single nucleotide variant	NM_001267550.2(TTN):c.55800G>A (p.Trp18600Ter)	TTN	Likely pathogenic	2	179465831	179465831	C	T	criteria provided, single submitter	ClinGen:CA273267