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.1458G>A (p.Trp486Ter)	MYBPC3	Pathogenic	11	47364295	47364295	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16042747
Deletion	NM_000256.3(MYBPC3):c.275_276del (p.Leu92fs)	MYBPC3	Likely pathogenic	11	47372806	47372807	TGA	T	criteria provided, single submitter	ClinGen:CA16042751
Deletion	NM_000256.3(MYBPC3):c.373_374del (p.Ala124_Ala125insTer)	MYBPC3	Pathogenic/Likely pathogenic	11	47372085	47372086	AGC	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16042811
Duplication	NM_000256.3(MYBPC3):c.236dup (p.Tyr79Ter)	MYBPC3	Pathogenic	11	47372845	47372846	G	GT	criteria provided, multiple submitters, no conflicts	ClinGen:CA16042816
single nucleotide variant	NM_000256.3(MYBPC3):c.3257G>A (p.Trp1086Ter)	MYBPC3	Pathogenic	11	47354818	47354818	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA079249
Deletion	NM_000256.3(MYBPC3):c.2334del (p.Lys779fs)	MYBPC3	Pathogenic/Likely pathogenic	11	47359320	47359320	TG	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16042829
single nucleotide variant	NM_000257.4(MYH7):c.3991C>G (p.His1331Asp)	MYH7	Likely pathogenic	14	23887597	23887597	G	C	criteria provided, single submitter	ClinGen:CA16042848
single nucleotide variant	NM_001267550.2(TTN):c.74567G>A (p.Trp24856Ter)	TTN	Pathogenic	2	179436292	179436292	C	T	criteria provided, single submitter	ClinGen:CA16043381
single nucleotide variant	NM_001267550.2(TTN):c.28001G>A (p.Trp9334Ter)	TTN	Likely pathogenic	2	179575962	179575962	C	T	criteria provided, single submitter	ClinGen:CA16043802
single nucleotide variant	NM_000257.4(MYH7):c.346-1G>A	MYH7	Likely pathogenic	14	23902005	23902005	C	T	criteria provided, single submitter	ClinGen:CA16043870