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.54809dup (p.Phe18271fs)	TTN	Likely pathogenic	2	179468604	179468605	T	TA	criteria provided, multiple submitters, no conflicts	ClinGen:CA16617370
Duplication	NM_001267550.2(TTN):c.52550_52554dup (p.Val17519fs)	TTN	Pathogenic	2	179473055	179473056	C	CACGAG	criteria provided, single submitter	ClinGen:CA16617372
Deletion	NM_001267550.2(TTN):c.50069del (p.Lys16690fs)	TTN	Likely pathogenic	2	179477183	179477183	CT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA16617373
Deletion	NM_001267550.2(TTN):c.48379_48382del (p.Phe16127fs)	TTN	Pathogenic	2	179480446	179480449	TTAAA	T	criteria provided, single submitter	ClinGen:CA16617374
single nucleotide variant	NM_001458.5(FLNC):c.1948C>T (p.Arg650Ter)	FLNC	Pathogenic	7	128481358	128481358	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16618351
Deletion	NM_001458.5(FLNC):c.3180del (p.Asp1061fs)	FLNC	Pathogenic/Likely pathogenic	7	128484308	128484308	CT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA16618352
single nucleotide variant	NM_001458.5(FLNC):c.3791-1G>C	FLNC	Pathogenic/Likely pathogenic	7	128486043	128486043	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA4475142
Deletion	NM_000256.3(MYBPC3):c.3726del (p.Lys1242fs)	MYBPC3	Pathogenic/Likely pathogenic	11	47353711	47353711	GC	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16619331
Insertion	NM_000256.3(MYBPC3):c.3124_3125insAA (p.Thr1042fs)	MYBPC3	Pathogenic	11	47355173	47355174	G	GTT	criteria provided, multiple submitters, no conflicts	ClinGen:CA16619335
Duplication	NM_000256.3(MYBPC3):c.2700_2703dup (p.Asp902fs)	MYBPC3	Pathogenic	11	47357461	47357462	C	CCAGG	criteria provided, multiple submitters, no conflicts	ClinGen:CA16619336