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.2573G>C (p.Arg858Pro)	MYH7	Likely pathogenic	14	23894084	23894084	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA257819426
Deletion	NM_001267550.2(TTN):c.84311_84312del (p.Ile28104fs)	TTN	Likely pathogenic	2	179426547	179426548	CTA	C	criteria provided, single submitter	ClinGen:CA658796001
Duplication	NM_001267550.2(TTN):c.57300_57303dup (p.Ile19102Ter)	TTN	Likely pathogenic	2	179462505	179462506	T	TTCTA	criteria provided, single submitter	ClinGen:CA658796045
Deletion	NM_001267550.2(TTN):c.48963_48966del (p.Ser16321fs)	TTN	Likely pathogenic	2	179479275	179479278	TCTTA	T	criteria provided, single submitter	ClinGen:CA658796071
Deletion	NM_001103.4(ACTN2):c.1793del (p.Pro598fs)	ACTN2	Likely pathogenic	1	236914904	236914904	AC	A	criteria provided, single submitter	ClinGen:CA658795623
single nucleotide variant	NM_001267550.2(TTN):c.90706G>T (p.Glu30236Ter)	TTN	Pathogenic	2	179416921	179416921	C	A	criteria provided, single submitter	ClinGen:CA349507301
Duplication	NM_001267550.2(TTN):c.78947dup (p.Ser26317fs)	TTN	Pathogenic	2	179431911	179431912	G	GC	criteria provided, single submitter	ClinGen:CA658796027
Duplication	NM_001267550.2(TTN):c.76904dup (p.Asn25635fs)	TTN	Pathogenic	2	179433954	179433955	A	AT	criteria provided, single submitter	ClinGen:CA658796028
Deletion	NM_001267550.2(TTN):c.72826del (p.Thr24276fs)	TTN	Pathogenic/Likely pathogenic	2	179438033	179438033	GT	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA658796037
Deletion	NM_001267550.2(TTN):c.72347del (p.Asn24116fs)	TTN	Pathogenic	2	179438512	179438512	AT	A	criteria provided, single submitter	ClinGen:CA658796039