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_000257.4(MYH7):c.1144G>T (p.Asp382Tyr)	MYH7	Likely pathogenic	14	23898551	23898551	C	A	criteria provided, single submitter	ClinGen:CA10583171
single nucleotide variant	NM_000257.4(MYH7):c.761C>A (p.Ala254Glu)	MYH7	Pathogenic	14	23900662	23900662	G	T	criteria provided, single submitter	ClinGen:CA10583172
single nucleotide variant	NM_001018005.2(TPM1):c.412G>A (p.Glu138Lys)	TPM1	Likely pathogenic	15	63351799	63351799	G	A	criteria provided, single submitter	ClinGen:CA10584024
single nucleotide variant	NM_001458.5(FLNC):c.4615G>A (p.Ala1539Thr)	FLNC	Pathogenic	7	128488649	128488649	G	A	criteria provided, single submitter	OMIM:102565.0005
single nucleotide variant	NM_001267550.2(TTN):c.9112T>C (p.Tyr3038His)	TTN	Likely pathogenic	2	179633451	179633451	A	G	criteria provided, single submitter	ClinGen:CA10586349
Deletion	NM_000256.3(MYBPC3):c.1404del (p.Gln469fs)	MYBPC3	Pathogenic/Likely pathogenic	11	47364434	47364434	GC	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10586354
Deletion	NM_000256.3(MYBPC3):c.927_928delGG	MYBPC3	Likely pathogenic	11	47367920	47367921	TCC	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10586355
Duplication	NM_000256.3(MYBPC3):c.332_335dup (p.Glu112delinsAspTer)	MYBPC3	Pathogenic	11	47372123	47372124	C	CTCAG	criteria provided, single submitter	ClinGen:CA10586356
single nucleotide variant	NM_001018005.2(TPM1):c.519G>C (p.Glu173Asp)	TPM1	Likely pathogenic	15	63353094	63353094	G	C	criteria provided, single submitter	ClinGen:CA10586357
single nucleotide variant	NM_001267550.2(TTN):c.99496G>T (p.Glu33166Ter)	TTN	Likely pathogenic	2	179402438	179402438	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10587446