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
Duplication	NM_001267550.2(TTN):c.92631dup (p.Lys30878fs)	TTN	Pathogenic/Likely pathogenic	2	179413721	179413722	T	TC	criteria provided, multiple submitters, no conflicts	ClinGen:CA10587450
single nucleotide variant	NM_001267550.2(TTN):c.89017C>T (p.Arg29673Ter)	TTN	Pathogenic/Likely pathogenic	2	179418821	179418821	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10587456
Duplication	NM_001267550.2(TTN):c.79447dup (p.Asp26483fs)	TTN	Likely pathogenic	2	179431411	179431412	T	TC	criteria provided, single submitter	ClinGen:CA10587472
Deletion	NM_001267550.2(TTN):c.73508del (p.Asn24503fs)	TTN	Likely pathogenic	2	179437351	179437351	AT	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10587478
single nucleotide variant	NM_001267550.2(TTN):c.67637-1G>C	TTN	Likely pathogenic	2	179444121	179444121	C	G	criteria provided, single submitter	ClinGen:CA10587482
Duplication	NM_001267550.2(TTN):c.61637dup (p.Tyr20547fs)	TTN	Likely pathogenic	2	179454814	179454815	C	CT	criteria provided, single submitter	ClinGen:CA10587488
Deletion	NM_001267550.2(TTN):c.59351_59352del (p.Pro19784fs)	TTN	Pathogenic/Likely pathogenic	2	179457380	179457381	CAG	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10587492
single nucleotide variant	NM_001267550.2(TTN):c.47494C>T (p.Arg15832Ter)	TTN	Pathogenic	2	179482584	179482584	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA1995041
single nucleotide variant	NM_000256.3(MYBPC3):c.2727C>A (p.Cys909Ter)	MYBPC3	Pathogenic	11	47357438	47357438	G	T	criteria provided, single submitter	ClinGen:CA10587726
single nucleotide variant	NM_000256.3(MYBPC3):c.2158G>T (p.Glu720Ter)	MYBPC3	Pathogenic	11	47360221	47360221	C	A	criteria provided, single submitter	ClinGen:CA10587727