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.979C>T (p.Gln327Ter)	MYBPC3	Pathogenic	11	47367869	47367869	G	A	criteria provided, single submitter	ClinGen:CA016219
Duplication	NM_000256.3(MYBPC3):c.333dup (p.Glu112Ter)	MYBPC3	Likely pathogenic	11	47372125	47372126	C	CA	criteria provided, single submitter	ClinGen:CA013994
Deletion	NM_000256.3(MYBPC3):c.3776del (p.Gln1259fs)	MYBPC3	Pathogenic/Likely pathogenic	11	47353661	47353661	CT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA014863
Duplication	NM_000256.3(MYBPC3):c.3644dup (p.Lys1216fs)	MYBPC3	Pathogenic	11	47353792	47353793	G	GA	criteria provided, single submitter	ClinGen:CA014559
single nucleotide variant	NM_000256.3(MYBPC3):c.3335G>A (p.Trp1112Ter)	MYBPC3	Pathogenic	11	47354520	47354520	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA014002
single nucleotide variant	NM_000256.3(MYBPC3):c.3190+1G>A	MYBPC3	Pathogenic	11	47355107	47355107	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA013610
Duplication	NM_000256.3(MYBPC3):c.3166dup (p.Ala1056fs)	MYBPC3	Pathogenic	11	47355131	47355132	G	GC	criteria provided, single submitter	ClinGen:CA013565
Deletion	NM_000256.3(MYBPC3):c.3089_3101del (p.Leu1030fs)	MYBPC3	Pathogenic	11	47355197	47355209	GGCCCGGATGAACA	G	criteria provided, single submitter	ClinGen:CA013448
single nucleotide variant	NM_000256.3(MYBPC3):c.2747G>A (p.Trp916Ter)	MYBPC3	Pathogenic	11	47356751	47356751	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA012934
single nucleotide variant	NM_000256.3(MYBPC3):c.2737+1G>C	MYBPC3	Pathogenic	11	47357427	47357427	C	G	criteria provided, single submitter	ClinGen:CA012897