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_000256.3(MYBPC3):c.1897+4A>C	MYBPC3	Likely pathogenic	11	47362685	47362685	T	G	criteria provided, single submitter	ClinGen:CA011444
Duplication	NM_000256.3(MYBPC3):c.1838dup (p.Asp613fs)	MYBPC3	Pathogenic	11	47362747	47362748	G	GT	criteria provided, multiple submitters, no conflicts	ClinGen:CA277833
Deletion	NM_000256.3(MYBPC3):c.1806del (p.Ile603fs)	MYBPC3	Pathogenic/Likely pathogenic	11	47362780	47362780	TG	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA011196
Deletion	NM_000256.3(MYBPC3):c.1792delG	MYBPC3	Pathogenic	11	47362794	47362794	AC	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA011164
single nucleotide variant	NM_000256.3(MYBPC3):c.1791-2A>C	MYBPC3	Pathogenic	11	47362797	47362797	T	G	criteria provided, single submitter	ClinGen:CA011151
Deletion	NM_000256.3(MYBPC3):c.1734del (p.Lys579fs)	MYBPC3	Pathogenic	11	47363598	47363598	TC	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA011021
single nucleotide variant	NM_000256.3(MYBPC3):c.1731G>A (p.Trp577Ter)	MYBPC3	Pathogenic/Likely pathogenic	11	47363601	47363601	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA011017
Deletion	NM_000256.3(MYBPC3):c.1700_1701del (p.Glu567fs)	MYBPC3	Pathogenic	11	47363631	47363632	CCT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA010952
single nucleotide variant	NM_000256.3(MYBPC3):c.1696T>C (p.Cys566Arg)	MYBPC3	Likely pathogenic	11	47363636	47363636	A	G	criteria provided, single submitter	ClinGen:CA010945,UniProtKB:Q14896#VAR_029404
single nucleotide variant	NM_000256.3(MYBPC3):c.1685C>A (p.Ala562Glu)	MYBPC3	Likely pathogenic	11	47363647	47363647	G	T	criteria provided, single submitter	ClinGen:CA010925