肥大型心筋症 - MGenReviews

肥大型心筋症

疾患の紹介

病的バリアントリスト

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最新の情報は下記 URL でご確認いただけます (外部サイトへ移動します) 。

https://ftp.ncbi.nlm.nih.gov/pub/clinvar/tab_delimited/archive/

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
Deletion	NM_000256.3(MYBPC3):c.3302del (p.Thr1101fs)	MYBPC3	Pathogenic	11	47354773	47354773	TG	T	criteria provided, single submitter	-
Deletion	NM_000256.3(MYBPC3):c.3217del (p.Arg1073fs)	MYBPC3	Likely pathogenic	11	47354858	47354858	CG	C	criteria provided, single submitter	ClinGen:CA013676
Duplication	NM_000256.3(MYBPC3):c.3217dup (p.Arg1073fs)	MYBPC3	Pathogenic/Likely pathogenic	11	47354857	47354858	C	CG	criteria provided, multiple submitters, no conflicts	ClinGen:CA296433
Deletion	NM_000256.3(MYBPC3):c.3182_3190+4del	MYBPC3	Pathogenic/Likely pathogenic	11	47355104	47355116	CGCACCAACAACCT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA296495
Deletion	NM_000256.3(MYBPC3):c.3190+3del	MYBPC3	Pathogenic	11	47355105	47355105	GC	G	criteria provided, single submitter	ClinGen:CA013625
Indel	NM_000256.3(MYBPC3):c.3079G>AA	MYBPC3	Pathogenic	11	47355219	47355219	C	TT	criteria provided, multiple submitters, no conflicts	ClinGen:CA296432
single nucleotide variant	NM_000256.3(MYBPC3):c.3034C>T (p.Gln1012Ter)	MYBPC3	Pathogenic	11	47355264	47355264	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA013359
single nucleotide variant	NM_000256.3(MYBPC3):c.3021G>A (p.Trp1007Ter)	MYBPC3	Pathogenic	11	47355277	47355277	C	T	criteria provided, single submitter	ClinGen:CA013344
single nucleotide variant	NM_000256.3(MYBPC3):c.2995-1G>A	MYBPC3	Pathogenic	11	47355304	47355304	C	T	criteria provided, single submitter	ClinGen:CA013288
single nucleotide variant	NM_000256.3(MYBPC3):c.2992C>T (p.Gln998Ter)	MYBPC3	Pathogenic	11	47355475	47355475	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA013265

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