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
single nucleotide variant	NM_004006.3(DMD):c.9337C>T (p.Arg3113Ter)	DMD	Pathogenic	X	31241188	31241188	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA267182
single nucleotide variant	NM_004006.3(DMD):c.9361+1G>A	DMD	Pathogenic	X	31241163	31241163	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA267188
single nucleotide variant	NM_004006.3(DMD):c.9361+1G>C	DMD	Pathogenic	X	31241163	31241163	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA267189
single nucleotide variant	NM_004006.3(DMD):c.9564-1G>A	DMD	Pathogenic/Likely pathogenic	X	31224785	31224785	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA267190
single nucleotide variant	NM_004006.3(DMD):c.961-5831C>T	DMD	Pathogenic	X	32669100	32669100	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA267191
single nucleotide variant	NM_004006.3(DMD):c.9650-2A>G	DMD	Pathogenic	X	31222237	31222237	T	C	criteria provided, single submitter	ClinGen:CA267192
Duplication	NM_004006.3(DMD):c.9767dup (p.Ser3257fs)	DMD	Pathogenic	X	31222117	31222118	G	GC	criteria provided, single submitter	-
single nucleotide variant	NM_004006.3(DMD):c.9851G>A (p.Trp3284Ter)	DMD	Pathogenic	X	31200978	31200978	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_004006.3(DMD):c.9862G>T (p.Glu3288Ter)	DMD	Pathogenic	X	31200967	31200967	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA267202
Deletion	NM_000021.4(PSEN1):c.338+1del	PSEN1	Pathogenic	14	73637756	73637756	TG	T	criteria provided, single submitter	ClinGen:CA224999,OMIM:104311.0018

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