特発性拡張型心筋症

表のタイトル行が青色の項目は、クリックすることでソートすることができます。

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
Indel	NM_000256.3(MYBPC3):c.1069_1072delinsGC (p.Arg357fs)	MYBPC3	Pathogenic	11	47367776	47367779	CGCG	GC	criteria provided, single submitter	ClinGen:CA009733
Deletion	NM_000256.3(MYBPC3):c.1028del (p.Thr343fs)	MYBPC3	Pathogenic	11	47367820	47367820	AG	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA009708
single nucleotide variant	NM_000256.3(MYBPC3):c.1015C>T (p.Gln339Ter)	MYBPC3	Pathogenic	11	47367833	47367833	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA009690
Insertion	NM_000256.3(MYBPC3):c.923_924insAACT (p.Arg309fs)	MYBPC3	Pathogenic	11	47368180	47368181	C	CAGTT	criteria provided, multiple submitters, no conflicts	ClinGen:CA016089
single nucleotide variant	NM_000256.3(MYBPC3):c.901A>T (p.Lys301Ter)	MYBPC3	Pathogenic/Likely pathogenic	11	47368981	47368981	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA016013
Deletion	NM_000256.3(MYBPC3):c.884del (p.Phe295fs)	MYBPC3	Pathogenic/Likely pathogenic	11	47368998	47368998	GA	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA015996
single nucleotide variant	NM_000256.3(MYBPC3):c.852-1G>A	MYBPC3	Pathogenic	11	47369031	47369031	C	T	criteria provided, single submitter	-
Duplication	NM_000256.3(MYBPC3):c.722dup (p.Ser242fs)	MYBPC3	Pathogenic	11	47370024	47370025	C	CA	criteria provided, single submitter	ClinGen:CA296443
Deletion	NM_000256.3(MYBPC3):c.586del (p.Trp196fs)	MYBPC3	Pathogenic	11	47371393	47371393	CA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA015513
single nucleotide variant	NM_000256.3(MYBPC3):c.571T>C (p.Trp191Arg)	MYBPC3	Likely pathogenic	11	47371408	47371408	A	G	criteria provided, single submitter	ClinGen:CA015508