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_004006.3(DMD):c.4934_4937del (p.Lys1645fs)	DMD	Pathogenic	X	32383225	32383228	CTCCT	C	criteria provided, single submitter	ClinGen:CA16616671
Deletion	NM_004006.3(DMD):c.6205del (p.Val2069fs)	DMD	Pathogenic	X	32305731	32305731	AC	A	criteria provided, single submitter	ClinGen:CA16616672
Duplication	NM_004006.3(DMD):c.2733dup (p.Val912fs)	DMD	Pathogenic	X	32503105	32503106	C	CA	criteria provided, single submitter	ClinGen:CA16616676
single nucleotide variant	NM_004006.3(DMD):c.4072-1G>T	DMD	Likely pathogenic	X	32430031	32430031	C	A	criteria provided, single submitter	ClinGen:CA16616681
single nucleotide variant	NM_004006.3(DMD):c.1149+1G>A	DMD	Pathogenic	X	32663080	32663080	C	T	criteria provided, single submitter	ClinGen:CA16616683
single nucleotide variant	NM_004006.3(DMD):c.3603+3A>T	DMD	Pathogenic	X	32472776	32472776	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16616684
single nucleotide variant	NM_004006.3(DMD):c.2276T>A (p.Leu759Ter)	DMD	Pathogenic	X	32536141	32536141	A	T	criteria provided, single submitter	ClinGen:CA16616687
Duplication	NM_004006.3(DMD):c.153dup (p.Asp52fs)	DMD	Pathogenic	X	32867877	32867878	C	CT	criteria provided, single submitter	ClinGen:CA16616690
single nucleotide variant	NM_000257.4(MYH7):c.2631G>T (p.Met877Ile)	MYH7	Pathogenic/Likely pathogenic	14	23894026	23894026	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16609633
single nucleotide variant	NM_000256.3(MYBPC3):c.2148+1G>T	MYBPC3	Likely pathogenic	11	47360874	47360874	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16616918

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