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_170707.4(LMNA):c.639+1G>A	LMNA	Likely pathogenic	1	156104320	156104320	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000335.5(SCN5A):c.1141-1G>A	SCN5A	Likely pathogenic	3	38647640	38647640	C	T	criteria provided, single submitter	ClinGen:CA352149157
single nucleotide variant	NM_170707.4(LMNA):c.727G>T (p.Asp243Tyr)	LMNA	Likely pathogenic	1	156104683	156104683	G	T	criteria provided, single submitter	-
Duplication	NM_000257.4(MYH7):c.3985dup (p.Leu1329fs)	MYH7	Likely pathogenic	14	23887602	23887603	A	AG	criteria provided, single submitter	-
single nucleotide variant	NM_000257.4(MYH7):c.195T>G (p.Tyr65Ter)	MYH7	Pathogenic	14	23902747	23902747	A	C	criteria provided, single submitter	-
single nucleotide variant	NM_001267550.2(TTN):c.49287C>A (p.Asn16429Lys)	TTN	Likely pathogenic	2	179478837	179478837	G	T	criteria provided, single submitter	-
single nucleotide variant	NM_000257.4(MYH7):c.746G>T (p.Arg249Leu)	MYH7	Likely pathogenic	14	23900677	23900677	C	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000256.3(MYBPC3):c.2572A>C (p.Ser858Arg)	MYBPC3	Likely pathogenic	11	47358972	47358972	T	G	criteria provided, single submitter	-
Duplication	Single allele	DMD	Likely pathogenic	X	31973924	32017000	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_170707.4(LMNA):c.810G>C (p.Lys270Asn)	LMNA	Likely pathogenic	1	156104766	156104766	G	C	criteria provided, single submitter	-

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