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.93897del (p.Phe31299fs)	TTN	Pathogenic/Likely pathogenic	2	179412456	179412456	TA	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA261917
Deletion	NM_001267550.2(TTN):c.98299_98300del (p.Arg32767fs)	TTN	Pathogenic/Likely pathogenic	2	179404492	179404493	CCT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA141479
single nucleotide variant	NM_001267550.2(TTN):c.102949C>T (p.Gln34317Ter)	TTN	Likely pathogenic	2	179398393	179398393	G	A	criteria provided, single submitter	ClinGen:CA261918
single nucleotide variant	NM_001267550.2(TTN):c.12208G>T (p.Glu4070Ter)	TTN	Likely pathogenic	2	179605752	179605752	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA261922
single nucleotide variant	NM_000256.3(MYBPC3):c.3791G>T (p.Cys1264Phe)	MYBPC3	Likely pathogenic	11	47353646	47353646	C	A	criteria provided, single submitter	ClinGen:CA014908,UniProtKB:Q14896#VAR_070455,OMIM:600958.0025
single nucleotide variant	NM_000257.4(MYH7):c.847T>G (p.Tyr283Asp)	MYH7	Likely pathogenic	14	23900158	23900158	A	C	criteria provided, single submitter	ClinGen:CA016893,UniProtKB:P12883#VAR_073877,OMIM:160760.0045
single nucleotide variant	NM_001458.5(FLNC):c.4060C>T (p.Arg1354Ter)	FLNC	Pathogenic	7	128486450	128486450	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001267550.2(TTN):c.57692G>A (p.Trp19231Ter)	TTN	Likely pathogenic	2	179460389	179460389	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_001267550.2(TTN):c.98606G>C (p.Arg32869Pro)	TTN	Likely pathogenic	2	179404186	179404186	C	G	criteria provided, single submitter	ClinGen:CA269799
single nucleotide variant	NM_001267550.2(TTN):c.95134T>C (p.Cys31712Arg)	TTN	Pathogenic	2	179410829	179410829	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA358820,OMIM:188840.0016