特発性拡張型心筋症 - MGenReviews

特発性拡張型心筋症

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.1633_1640del (p.Leu545fs)	MYBPC3	Pathogenic	11	47363692	47363699	CACCTCCAG	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10582918
Duplication	NM_000256.3(MYBPC3):c.1236dup (p.Glu413Ter)	MYBPC3	Pathogenic	11	47364686	47364687	C	CA	criteria provided, multiple submitters, no conflicts	ClinGen:CA10582919
single nucleotide variant	NM_000257.4(MYH7):c.1144G>T (p.Asp382Tyr)	MYH7	Likely pathogenic	14	23898551	23898551	C	A	criteria provided, single submitter	ClinGen:CA10583171
single nucleotide variant	NM_000257.4(MYH7):c.761C>A (p.Ala254Glu)	MYH7	Pathogenic	14	23900662	23900662	G	T	criteria provided, single submitter	ClinGen:CA10583172
Deletion	NM_004006.3(DMD):c.7781del (p.Gln2594fs)	DMD	Pathogenic	X	31697583	31697583	CT	C	criteria provided, single submitter	ClinGen:CA10583943
single nucleotide variant	NM_004006.3(DMD):c.5506C>T (p.Gln1836Ter)	DMD	Pathogenic	X	32364140	32364140	G	A	criteria provided, single submitter	ClinGen:CA10583945
single nucleotide variant	NM_004006.3(DMD):c.4870C>T (p.Gln1624Ter)	DMD	Pathogenic	X	32383292	32383292	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10583946
single nucleotide variant	NM_004006.3(DMD):c.1705-1G>T	DMD	Pathogenic	X	32591755	32591755	C	A	criteria provided, single submitter	ClinGen:CA10583947
single nucleotide variant	NM_004006.3(DMD):c.1504C>T (p.Gln502Ter)	DMD	Pathogenic	X	32613972	32613972	G	A	criteria provided, single submitter	ClinGen:CA10583948
single nucleotide variant	NM_001018005.2(TPM1):c.412G>A (p.Glu138Lys)	TPM1	Likely pathogenic	15	63351799	63351799	G	A	criteria provided, single submitter	ClinGen:CA10584024

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