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.3357C>A (p.Tyr1119Ter)	MYBPC3	Pathogenic	11	47354498	47354498	G	T	criteria provided, single submitter	-
Duplication	NM_000256.3(MYBPC3):c.2377dup (p.Glu793fs)	MYBPC3	Pathogenic	11	47359276	47359277	T	TC	criteria provided, single submitter	-
Duplication	NM_000256.3(MYBPC3):c.2003dup (p.Leu669fs)	MYBPC3	Pathogenic	11	47361265	47361266	A	AC	criteria provided, single submitter	-
Deletion	NM_000256.3(MYBPC3):c.1422del (p.Glu474fs)	MYBPC3	Pathogenic	11	47364416	47364416	AC	A	criteria provided, single submitter	-
Deletion	NM_000256.3(MYBPC3):c.1174del (p.Ala392fs)	MYBPC3	Pathogenic	11	47365092	47365092	GC	G	criteria provided, single submitter	-
single nucleotide variant	NM_000256.3(MYBPC3):c.821+2T>A	MYBPC3	Pathogenic	11	47369406	47369406	A	T	criteria provided, single submitter	-
Deletion	NM_000256.3(MYBPC3):c.299_308del (p.Ala100fs)	MYBPC3	Pathogenic/Likely pathogenic	11	47372151	47372160	CATGGGCTCTG	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000257.4(MYH7):c.2857G>C (p.Asp953His)	MYH7	Likely pathogenic	14	23893181	23893181	C	G	criteria provided, single submitter	-
single nucleotide variant	NM_000257.4(MYH7):c.1801C>T (p.Leu601Phe)	MYH7	Pathogenic	14	23896881	23896881	G	A	criteria provided, single submitter	-
single nucleotide variant	NM_000257.4(MYH7):c.2134C>G (p.Arg712Gly)	MYH7	Likely pathogenic	14	23895201	23895201	G	C	criteria provided, single submitter	-