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
Insertion	NM_001267550.2(TTN):c.89220_89221insT (p.Ile29741fs)	TTN	Likely pathogenic	2	179418511	179418512	T	TA	criteria provided, multiple submitters, no conflicts	ClinGen:CA16617338
Deletion	NM_001267550.2(TTN):c.88696del (p.Ile29566fs)	TTN	Likely pathogenic	2	179419378	179419378	AT	A	criteria provided, single submitter	ClinGen:CA16617339
single nucleotide variant	NM_001267550.2(TTN):c.87040C>T (p.Arg29014Ter)	TTN	Pathogenic	2	179423146	179423146	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA1988388
Deletion	NM_001267550.2(TTN):c.86627del (p.Pro28876fs)	TTN	Likely pathogenic	2	179424232	179424232	TG	T	criteria provided, single submitter	ClinGen:CA16617340
single nucleotide variant	NM_001267550.2(TTN):c.86363G>A (p.Trp28788Ter)	TTN	Pathogenic	2	179424496	179424496	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16617341
Deletion	NM_001267550.2(TTN):c.84365del (p.Gly28122fs)	TTN	Pathogenic/Likely pathogenic	2	179426494	179426494	TC	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA1988788
Duplication	NM_001267550.2(TTN):c.83542dup (p.Ile27848fs)	TTN	Pathogenic	2	179427316	179427317	A	AT	criteria provided, single submitter	ClinGen:CA16617342
Duplication	NM_001267550.2(TTN):c.82594dup (p.Thr27532fs)	TTN	Likely pathogenic	2	179428264	179428265	G	GT	criteria provided, multiple submitters, no conflicts	ClinGen:CA16617344
Deletion	NM_001267550.2(TTN):c.82193del (p.Gly27398fs)	TTN	Likely pathogenic	2	179428666	179428666	AC	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16617345
single nucleotide variant	NM_001267550.2(TTN):c.79793T>G (p.Leu26598Ter)	TTN	Pathogenic/Likely pathogenic	2	179431066	179431066	A	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA16617346