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.852-1G>A	MYBPC3	Pathogenic	11	47369031	47369031	C	T	criteria provided, single submitter	-
Duplication	NM_000256.3(MYBPC3):c.722dup (p.Ser242fs)	MYBPC3	Pathogenic	11	47370024	47370025	C	CA	criteria provided, single submitter	ClinGen:CA296443
Deletion	NM_000256.3(MYBPC3):c.586del (p.Trp196fs)	MYBPC3	Pathogenic	11	47371393	47371393	CA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA015513
single nucleotide variant	NM_000256.3(MYBPC3):c.571T>C (p.Trp191Arg)	MYBPC3	Likely pathogenic	11	47371408	47371408	A	G	criteria provided, single submitter	ClinGen:CA015508
single nucleotide variant	NM_000256.3(MYBPC3):c.553A>T (p.Lys185Ter)	MYBPC3	Pathogenic/Likely pathogenic	11	47371426	47371426	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA015470
single nucleotide variant	NM_000256.3(MYBPC3):c.484C>T (p.Gln162Ter)	MYBPC3	Pathogenic	11	47371586	47371586	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA015236
Deletion	NM_000256.3(MYBPC3):c.455_456del (p.Asp152fs)	MYBPC3	Pathogenic	11	47371614	47371615	GGT	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA015147
Deletion	NM_000256.3(MYBPC3):c.453del (p.Asp151fs)	MYBPC3	Pathogenic	11	47371617	47371617	CA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA015140
Deletion	NM_000256.3(MYBPC3):c.450del (p.Asp151fs)	MYBPC3	Pathogenic/Likely pathogenic	11	47371620	47371620	CG	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA015126
single nucleotide variant	NM_000256.3(MYBPC3):c.416C>G (p.Ser139Ter)	MYBPC3	Pathogenic/Likely pathogenic	11	47371654	47371654	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA015047