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_002471.4(MYH6):c.3193dup (p.Gln1065fs)	MYH6	Pathogenic	14	23862178	23862179	T	TG	criteria provided, single submitter	ClinGen:CA279617
single nucleotide variant	NM_000256.3(MYBPC3):c.906-36G>A	MYBPC3	Pathogenic/Likely pathogenic	11	47368616	47368616	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA349273
Deletion	NM_000256.3(MYBPC3):c.162del (p.Lys54fs)	MYBPC3	Pathogenic	11	47372920	47372920	AC	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA348352
single nucleotide variant	NM_000257.4(MYH7):c.1615A>C (p.Met539Leu)	MYH7	Likely pathogenic	14	23897067	23897067	T	G	criteria provided, single submitter	ClinGen:CA349239
single nucleotide variant	NM_001267550.2(TTN):c.104010C>A (p.Tyr34670Ter)	TTN	Likely pathogenic	2	179397332	179397332	G	T	criteria provided, single submitter	ClinGen:CA087871
Deletion	NM_001267550.2(TTN):c.94249del (p.Val31417fs)	TTN	Likely pathogenic	2	179412003	179412003	AC	A	criteria provided, single submitter	ClinGen:CA352002
single nucleotide variant	NM_001267550.2(TTN):c.88421G>A (p.Trp29474Ter)	TTN	Likely pathogenic	2	179419765	179419765	C	T	criteria provided, single submitter	ClinGen:CA351972
Deletion	NM_001267550.2(TTN):c.87849del (p.Leu29283fs)	TTN	Likely pathogenic	2	179422140	179422140	AT	A	criteria provided, single submitter	ClinGen:CA351822
Deletion	NM_001267550.2(TTN):c.83789_83790del (p.Glu27930fs)	TTN	Likely pathogenic	2	179427069	179427070	CTT	C	criteria provided, single submitter	ClinGen:CA351735
single nucleotide variant	NM_001267550.2(TTN):c.79684C>T (p.Arg26562Ter)	TTN	Pathogenic/Likely pathogenic	2	179431175	179431175	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA351848