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.237C>A (p.Tyr79Ter)	MYBPC3	Pathogenic	11	47372845	47372845	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16613590
Deletion	NM_000256.3(MYBPC3):c.3100del (p.Ala1034fs)	MYBPC3	Pathogenic	11	47355198	47355198	GC	G	criteria provided, single submitter	ClinGen:CA16613610
Insertion	NM_000256.3(MYBPC3):c.65_66insG (p.Ala23fs)	MYBPC3	Pathogenic	11	47373016	47373017	G	GC	criteria provided, multiple submitters, no conflicts	ClinGen:CA16613639
single nucleotide variant	NM_000257.4(MYH7):c.2633T>C (p.Val878Ala)	MYH7	Likely pathogenic	14	23894024	23894024	A	G	criteria provided, single submitter	ClinGen:CA16614088
single nucleotide variant	NM_000257.4(MYH7):c.2189T>C (p.Ile730Thr)	MYH7	Likely pathogenic	14	23895001	23895001	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16614089
single nucleotide variant	NM_000257.4(MYH7):c.2134C>T (p.Arg712Cys)	MYH7	Likely pathogenic	14	23895201	23895201	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA031270
single nucleotide variant	NM_000257.4(MYH7):c.1544T>G (p.Met515Arg)	MYH7	Likely pathogenic	14	23897743	23897743	A	C	criteria provided, single submitter	ClinGen:CA16614164
single nucleotide variant	NM_000257.4(MYH7):c.1618T>C (p.Phe540Leu)	MYH7	Pathogenic/Likely pathogenic	14	23897064	23897064	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16614425
single nucleotide variant	NM_000257.4(MYH7):c.1182C>A (p.Asp394Glu)	MYH7	Pathogenic/Likely pathogenic	14	23898513	23898513	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16614497
single nucleotide variant	NM_000257.4(MYH7):c.2631G>T (p.Met877Ile)	MYH7	Pathogenic/Likely pathogenic	14	23894026	23894026	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16609633