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.1892del (p.Phe631fs)	MYBPC3	Pathogenic	11	47362694	47362694	GA	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA011401
Deletion	NM_000256.3(MYBPC3):c.1895del (p.Met632fs)	MYBPC3	Pathogenic	11	47362691	47362691	CA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA011407
single nucleotide variant	NM_000256.3(MYBPC3):c.1897+1G>A	MYBPC3	Pathogenic	11	47362688	47362688	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA011421
single nucleotide variant	NM_000256.3(MYBPC3):c.1928-2A>G	MYBPC3	Pathogenic	11	47361343	47361343	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA011513,OMIM:600958.0003
single nucleotide variant	NM_000256.3(MYBPC3):c.2048G>A (p.Trp683Ter)	MYBPC3	Pathogenic	11	47361221	47361221	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA011693
Indel	NM_000256.3(MYBPC3):c.2013_2016delinsGG (p.Pro672fs)	MYBPC3	Pathogenic/Likely pathogenic	11	47361253	47361256	AGGG	CC	criteria provided, multiple submitters, no conflicts	ClinGen:CA011652
Duplication	NM_000256.3(MYBPC3):c.2040dup (p.Val681fs)	MYBPC3	Pathogenic	11	47361228	47361229	C	CA	criteria provided, multiple submitters, no conflicts	ClinGen:CA011684
Deletion	NM_000256.3(MYBPC3):c.2096del (p.Pro699fs)	MYBPC3	Pathogenic	11	47360927	47360927	TG	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA011737
Duplication	NM_000256.3(MYBPC3):c.2113dup (p.Thr705fs)	MYBPC3	Pathogenic	11	47360909	47360910	G	GT	criteria provided, multiple submitters, no conflicts	ClinGen:CA011744
Deletion	NM_000256.3(MYBPC3):c.2163del (p.Glu722fs)	MYBPC3	Pathogenic	11	47360216	47360216	CG	C	criteria provided, single submitter	ClinGen:CA011794