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_001458.5(FLNC):c.4969C>T (p.Arg1657Ter)	FLNC	Pathogenic/Likely pathogenic	7	128489402	128489402	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001458.5(FLNC):c.4021C>T (p.Arg1341Ter)	FLNC	Pathogenic/Likely pathogenic	7	128486411	128486411	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001267550.2(TTN):c.70714C>T (p.Gln23572Ter)	TTN	Pathogenic/Likely pathogenic	2	179440145	179440145	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001267550.2(TTN):c.83104C>T (p.Arg27702Ter)	TTN	Pathogenic/Likely pathogenic	2	179427755	179427755	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000256.3(MYBPC3):c.2737+1G>A	MYBPC3	Pathogenic/Likely pathogenic	11	47357427	47357427	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000256.3(MYBPC3):c.711C>A (p.Tyr237Ter)	MYBPC3	Pathogenic/Likely pathogenic	11	47370036	47370036	G	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001267550.2(TTN):c.38737G>T (p.Glu12913Ter)	TTN	Pathogenic/Likely pathogenic	2	179518019	179518019	C	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001267550.2(TTN):c.106531+1G>A	TTN	Pathogenic/Likely pathogenic	2	179394686	179394686	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001267550.2(TTN):c.105423C>G (p.Tyr35141Ter)	TTN	Pathogenic/Likely pathogenic	2	179395919	179395919	G	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001458.5(FLNC):c.8076C>A (p.Tyr2692Ter)	FLNC	Pathogenic/Likely pathogenic	7	128498475	128498475	C	A	criteria provided, multiple submitters, no conflicts	-