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
single nucleotide variant	NM_000257.4(MYH7):c.5135G>A (p.Arg1712Gln)	MYH7	Pathogenic	14	23884860	23884860	C	T	reviewed by expert panel	ClinGen:CA015727
single nucleotide variant	NM_016203.4(PRKAG2):c.879C>A (p.Phe293Leu)	PRKAG2	Pathogenic/Likely pathogenic	7	151273524	151273524	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA014610
single nucleotide variant	NM_000256.3(MYBPC3):c.2827C>T (p.Arg943Ter)	MYBPC3	Pathogenic	11	47356671	47356671	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA013001,OMIM:600958.0023
Deletion	NM_001267550.2(TTN):c.107889del (p.Lys35963fs)	TTN	Pathogenic	2	179391826	179391826	GT	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA309464
single nucleotide variant	NM_000256.3(MYBPC3):c.1156G>T (p.Glu386Ter)	MYBPC3	Pathogenic	11	47365110	47365110	C	A	criteria provided, single submitter	ClinGen:CA009823
Deletion	NM_000256.3(MYBPC3):c.1168del (p.His390fs)	MYBPC3	Pathogenic/Likely pathogenic	11	47365098	47365098	TG	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA009831
single nucleotide variant	NM_000256.3(MYBPC3):c.1224-2A>G	MYBPC3	Pathogenic	11	47364815	47364815	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA009918
Deletion	NM_000256.3(MYBPC3):c.1235_1236del (p.Ile411_Phe412insTer)	MYBPC3	Pathogenic	11	47364687	47364688	CAA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA009961
single nucleotide variant	NM_000256.3(MYBPC3):c.1273C>T (p.Gln425Ter)	MYBPC3	Pathogenic	11	47364650	47364650	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA010005
Deletion	NM_000256.3(MYBPC3):c.1310del (p.Val437fs)	MYBPC3	Pathogenic	11	47364613	47364613	CA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA010069