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.2182G>T (p.Glu728Ter)	MYBPC3	Pathogenic	11	47360197	47360197	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA011848
single nucleotide variant	NM_000256.3(MYBPC3):c.2308+1G>A	MYBPC3	Pathogenic	11	47360070	47360070	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA011996,MYBPC3 homepage - Leiden Muscular Dystrophy pages:MYBPC3_00363,OMIM:600958.0007
single nucleotide variant	NM_000256.3(MYBPC3):c.2308+1G>T	MYBPC3	Pathogenic	11	47360070	47360070	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA012008
single nucleotide variant	NM_000256.3(MYBPC3):c.2309-2A>G	MYBPC3	Pathogenic	11	47359347	47359347	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA012043
Duplication	NM_000256.3(MYBPC3):c.2311dup (p.Val771fs)	MYBPC3	Pathogenic	11	47359342	47359343	A	AC	criteria provided, multiple submitters, no conflicts	ClinGen:CA012076
Duplication	NM_000256.3(MYBPC3):c.2373dup (p.Trp792fs)	MYBPC3	Pathogenic	11	47359281	47359281	A	AC	criteria provided, multiple submitters, no conflicts	MYBPC3 homepage - Leiden Muscular Dystrophy pages:MYBPC3_00149,OMIM:600958.0011,ClinGen:CA012139
single nucleotide variant	NM_000256.3(MYBPC3):c.2454G>A (p.Trp818Ter)	MYBPC3	Pathogenic	11	47359090	47359090	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA012302
Duplication	NM_000256.3(MYBPC3):c.2490dup (p.His831fs)	MYBPC3	Pathogenic/Likely pathogenic	11	47359053	47359054	G	GA	criteria provided, multiple submitters, no conflicts	ClinGen:CA012366
Duplication	NM_000256.3(MYBPC3):c.2524dup (p.Tyr842fs)	MYBPC3	Pathogenic	11	47359019	47359020	T	TA	criteria provided, multiple submitters, no conflicts	ClinGen:CA012465
Deletion	NM_000256.3(MYBPC3):c.2528_2536del (p.Glu843_Arg845del)	MYBPC3	Likely pathogenic	11	47359008	47359016	ACGCGCATCT	A	criteria provided, single submitter	ClinGen:CA012493