特発性拡張型心筋症

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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_000256.3(MYBPC3):c.1791-2A>C	MYBPC3	Pathogenic	11	47362797	47362797	T	G	criteria provided, single submitter	ClinGen:CA011151
Deletion	NM_000256.3(MYBPC3):c.1734del (p.Lys579fs)	MYBPC3	Pathogenic	11	47363598	47363598	TC	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA011021
single nucleotide variant	NM_000256.3(MYBPC3):c.1731G>A (p.Trp577Ter)	MYBPC3	Pathogenic/Likely pathogenic	11	47363601	47363601	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA011017
Deletion	NM_000256.3(MYBPC3):c.1700_1701del (p.Glu567fs)	MYBPC3	Pathogenic	11	47363631	47363632	CCT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA010952
single nucleotide variant	NM_000256.3(MYBPC3):c.1696T>C (p.Cys566Arg)	MYBPC3	Likely pathogenic	11	47363636	47363636	A	G	criteria provided, single submitter	ClinGen:CA010945,UniProtKB:Q14896#VAR_029404
single nucleotide variant	NM_000256.3(MYBPC3):c.1685C>A (p.Ala562Glu)	MYBPC3	Likely pathogenic	11	47363647	47363647	G	T	criteria provided, single submitter	ClinGen:CA010925
Deletion	NM_000256.3(MYBPC3):c.1652_1656del (p.Ile551fs)	MYBPC3	Likely pathogenic	11	47363676	47363680	CTGCGA	C	criteria provided, single submitter	-
Deletion	NM_000256.3(MYBPC3):c.1595del (p.Gly532fs)	MYBPC3	Pathogenic	11	47364158	47364158	GC	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA010697
Duplication	NM_000256.3(MYBPC3):c.1577_1580dup (p.Cys528fs)	MYBPC3	Pathogenic	11	47364172	47364173	C	CAGTG	criteria provided, single submitter	ClinGen:CA296492
single nucleotide variant	NM_000256.3(MYBPC3):c.1522C>T (p.Gln508Ter)	MYBPC3	Pathogenic	11	47364231	47364231	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA010566