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.59205del (p.Glu19735fs)	TTN	Pathogenic/Likely pathogenic	2	179457641	179457641	AC	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA261890
single nucleotide variant	NM_001267550.2(TTN):c.61876C>T (p.Arg20626Ter)	TTN	Pathogenic/Likely pathogenic	2	179454576	179454576	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA261891
single nucleotide variant	NM_001267550.2(TTN):c.66618C>A (p.Cys22206Ter)	TTN	Pathogenic	2	179446377	179446377	G	T	criteria provided, single submitter	ClinGen:CA261896
Duplication	NM_001267550.2(TTN):c.69458_69461dup (p.Asn23154fs)	TTN	Likely pathogenic	2	179441509	179441510	G	GTTCT	criteria provided, multiple submitters, no conflicts	ClinGen:CA261900
single nucleotide variant	NM_001267550.2(TTN):c.71602C>T (p.Arg23868Ter)	TTN	Pathogenic/Likely pathogenic	2	179439257	179439257	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA261901
Deletion	NM_001267550.2(TTN):c.73845del (p.Glu24615fs)	TTN	Pathogenic/Likely pathogenic	2	179437014	179437014	GT	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA261907
single nucleotide variant	NM_001267550.2(TTN):c.81532G>T (p.Glu27178Ter)	TTN	Likely pathogenic	2	179429327	179429327	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA261909
single nucleotide variant	NM_001267550.2(TTN):c.86821+2T>A	TTN	Pathogenic/Likely pathogenic	2	179424036	179424036	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA261913
Deletion	NM_001267550.2(TTN):c.90587del (p.Lys30196fs)	TTN	Pathogenic/Likely pathogenic	2	179417040	179417040	CT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA261915
Duplication	NM_003319.4(TTN):c.63583dup (p.Tyr21195fs)	TTN	Likely pathogenic	2	179416848	179416849	T	TA	criteria provided, single submitter	ClinGen:CA261916