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_001267550.2(TTN):c.73504G>T (p.Glu24502Ter)	TTN	Pathogenic	2	179437355	179437355	C	A	criteria provided, single submitter	ClinGen:CA349638828
Deletion	NM_001267550.2(TTN):c.70000del (p.Glu23334fs)	TTN	Pathogenic/Likely pathogenic	2	179440859	179440859	TC	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA645369274
single nucleotide variant	NM_001267550.2(TTN):c.67272C>A (p.Tyr22424Ter)	TTN	Likely pathogenic	2	179444742	179444742	G	T	criteria provided, single submitter	ClinGen:CA349424114
single nucleotide variant	NM_001267550.2(TTN):c.66228G>A (p.Trp22076Ter)	TTN	Likely pathogenic	2	179446868	179446868	C	T	criteria provided, single submitter	ClinGen:CA349429589
Deletion	NM_001267550.2(TTN):c.61479_61483del (p.Ile20494fs)	TTN	Likely pathogenic	2	179454969	179454973	CGGATA	C	criteria provided, single submitter	ClinGen:CA645369276
single nucleotide variant	NM_001267550.2(TTN):c.53599G>T (p.Glu17867Ter)	TTN	Pathogenic/Likely pathogenic	2	179470423	179470423	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA349562547
single nucleotide variant	NM_001267550.2(TTN):c.51654C>G (p.Tyr17218Ter)	TTN	Pathogenic	2	179474496	179474496	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA349583453
single nucleotide variant	NM_007078.3(LDB3):c.686G>T (p.Gly229Val)	LDB3	Likely pathogenic	10	88441557	88441557	G	T	criteria provided, single submitter	ClinGen:CA377455773
single nucleotide variant	NM_000256.3(MYBPC3):c.1624G>T (p.Glu542Ter)	MYBPC3	Pathogenic	11	47364129	47364129	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA380324980
Deletion	NM_000256.3(MYBPC3):c.627_637del (p.His210fs)	MYBPC3	Pathogenic	11	47371342	47371352	TAGCTGTCGTGC	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA645369517