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.46069_46070del (p.Met15357fs)	TTN	Likely pathogenic	2	179485178	179485179	CAT	C	criteria provided, single submitter	ClinGen:CA261859
single nucleotide variant	NM_001267550.2(TTN):c.46773T>A (p.Tyr15591Ter)	TTN	Likely pathogenic	2	179483504	179483504	A	T	criteria provided, single submitter	ClinGen:CA261860
single nucleotide variant	NM_001267550.2(TTN):c.46782C>A (p.Tyr15594Ter)	TTN	Likely pathogenic	2	179483495	179483495	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA261864
single nucleotide variant	NM_001267550.2(TTN):c.47506C>T (p.Gln15836Ter)	TTN	Likely pathogenic	2	179482572	179482572	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA261868
single nucleotide variant	NM_001267550.2(TTN):c.50618G>A (p.Trp16873Ter)	TTN	Likely pathogenic	2	179476338	179476338	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA261872
single nucleotide variant	NM_001267550.2(TTN):c.56647+1G>A	TTN	Likely pathogenic	2	179463872	179463872	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA261880
Duplication	NM_001256850.1(TTN):c.51809dup (p.Asp17270fs)	TTN	Likely pathogenic	2	179463704	179463705	A	AT	criteria provided, multiple submitters, no conflicts	ClinGen:CA261881
Deletion	NM_001267550.2(TTN):c.57215del (p.Gly19072fs)	TTN	Likely pathogenic	2	179462682	179462682	TC	T	criteria provided, single submitter	ClinGen:CA261882
single nucleotide variant	NM_001267550.2(TTN):c.57331C>T (p.Arg19111Ter)	TTN	Pathogenic/Likely pathogenic	2	179462478	179462478	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA261883
Deletion	NM_001267550.2(TTN):c.57995del (p.His19332fs)	TTN	Likely pathogenic	2	179459226	179459226	GT	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA261889