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_000256.3(MYBPC3):c.2543del (p.Ala848fs)	MYBPC3	Pathogenic	11	47359001	47359001	CG	C	criteria provided, single submitter	ClinGen:CA012582
Deletion	NM_000256.3(MYBPC3):c.2532_2538del (p.Met844fs)	MYBPC3	Pathogenic/Likely pathogenic	11	47359006	47359012	AGACGCGC	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA012500
Deletion	NM_000256.3(MYBPC3):c.2511del (p.Ile837fs)	MYBPC3	Pathogenic	11	47359033	47359033	CG	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA012413
Deletion	NM_000256.3(MYBPC3):c.2455_2459del (p.Met819fs)	MYBPC3	Pathogenic	11	47359085	47359089	CCGCAT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA012310
Deletion	NM_000256.3(MYBPC3):c.2382del (p.Pro795fs)	MYBPC3	Pathogenic	11	47359272	47359272	GC	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA012182
single nucleotide variant	NM_000256.3(MYBPC3):c.2324C>G (p.Pro775Arg)	MYBPC3	Likely pathogenic	11	47359330	47359330	G	C	criteria provided, single submitter	ClinGen:CA012122
Deletion	NM_000256.3(MYBPC3):c.2267del (p.Pro756fs)	MYBPC3	Pathogenic	11	47360112	47360112	AG	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA011951
Deletion	NM_000256.3(MYBPC3):c.2221del (p.Ala741fs)	MYBPC3	Pathogenic	11	47360158	47360158	GC	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA011913
single nucleotide variant	NM_000256.3(MYBPC3):c.1978G>A (p.Val660Met)	MYBPC3	Likely pathogenic	11	47361291	47361291	C	T	criteria provided, single submitter	ClinGen:CA011589
single nucleotide variant	NM_000256.3(MYBPC3):c.1898-1G>A	MYBPC3	Pathogenic	11	47362584	47362584	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA011484