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.495G>A (p.Met165Ile)	MYH7	Likely pathogenic	14	23901855	23901855	C	T	criteria provided, single submitter	ClinGen:CA389052697
Deletion	NM_001267550.2(TTN):c.87247del (p.Val29083fs)	TTN	Likely pathogenic	2	179422834	179422834	AC	A	criteria provided, single submitter	-
Deletion	NM_001267550.2(TTN):c.63229_63230del (p.Thr21077fs)	TTN	Likely pathogenic	2	179452904	179452905	GGT	G	criteria provided, single submitter	-
Deletion	NM_000256.3(MYBPC3):c.1521del (p.Gln508fs)	MYBPC3	Pathogenic	11	47364232	47364232	GC	G	criteria provided, single submitter	-
single nucleotide variant	NM_000257.4(MYH7):c.2114G>A (p.Cys705Tyr)	MYH7	Likely pathogenic	14	23895221	23895221	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_020778.5(ALPK3):c.4688G>A (p.Trp1563Ter)	ALPK3	Pathogenic	15	85407861	85407861	G	A	criteria provided, single submitter	OMIM:617608.0003
single nucleotide variant	NM_001458.5(FLNC):c.7688A>G (p.Tyr2563Cys)	FLNC	Pathogenic	7	128497298	128497298	A	G	criteria provided, single submitter	-
single nucleotide variant	NM_000257.4(MYH7):c.2771A>G (p.Glu924Gly)	MYH7	Likely pathogenic	14	23893267	23893267	T	C	criteria provided, single submitter	-
single nucleotide variant	NM_002471.4(MYH6):c.1410+1G>A	MYH6	Pathogenic	14	23869917	23869917	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_000257.4(MYH7):c.5560-2A>C	MYH7	Likely pathogenic	14	23883313	23883313	T	G	criteria provided, single submitter	-