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.3799del (p.Arg1267fs)	MYBPC3	Pathogenic	11	47353638	47353638	CG	C	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000256.3(MYBPC3):c.3570_3573del (p.Val1192fs)	MYBPC3	Pathogenic	11	47354171	47354174	CCGAG	C	criteria provided, single submitter	-
Duplication	NM_000256.3(MYBPC3):c.2572_2576dup (p.Ser861fs)	MYBPC3	Pathogenic	11	47358967	47358968	A	AGGGCT	criteria provided, single submitter	-
Deletion	NM_000256.3(MYBPC3):c.2438del (p.Lys813fs)	MYBPC3	Pathogenic	11	47359106	47359106	CT	C	criteria provided, single submitter	-
Deletion	NM_000256.3(MYBPC3):c.1755del (p.Asp587fs)	MYBPC3	Pathogenic	11	47363577	47363577	GC	G	criteria provided, single submitter	-
Indel	NM_000256.3(MYBPC3):c.1440_1441delinsC (p.Glu480fs)	MYBPC3	Pathogenic	11	47364397	47364398	CC	G	criteria provided, single submitter	-
Deletion	NM_000256.3(MYBPC3):c.1319_1328del (p.Gly440fs)	MYBPC3	Pathogenic	11	47364595	47364604	ACACTTCTCGC	A	criteria provided, single submitter	-
Deletion	NM_000256.3(MYBPC3):c.440del (p.Pro147fs)	MYBPC3	Pathogenic	11	47371630	47371630	AG	A	criteria provided, single submitter	-
single nucleotide variant	NM_000257.4(MYH7):c.5594A>C (p.Gln1865Pro)	MYH7	Pathogenic	14	23883277	23883277	T	G	criteria provided, single submitter	-
single nucleotide variant	NM_000257.4(MYH7):c.4358T>C (p.Leu1453Pro)	MYH7	Pathogenic	14	23886523	23886523	A	G	criteria provided, single submitter	-

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