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

Excelでダウンロード

1
...
176
177
178
179
180
...
182

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
Duplication	NM_001267550.2(TTN):c.48542dup (p.Asn16181fs)	TTN	Likely pathogenic	2	179480129	179480130	A	AT	criteria provided, single submitter	-
single nucleotide variant	NM_001458.5(FLNC):c.554G>A (p.Trp185Ter)	FLNC	Pathogenic	7	128475581	128475581	G	A	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_001458.5(FLNC):c.1861_1885dup (p.Arg629fs)	FLNC	Pathogenic	7	128481269	128481270	A	ACAAGGGGGATGGCTCCTGCGATGTG	criteria provided, single submitter	-
single nucleotide variant	NM_001458.5(FLNC):c.4729C>T (p.Gln1577Ter)	FLNC	Pathogenic	7	128488763	128488763	C	T	criteria provided, single submitter	-
Deletion	NM_001458.5(FLNC):c.5675_5678del (p.Leu1892fs)	FLNC	Pathogenic	7	128491512	128491515	GGTCT	G	criteria provided, single submitter	-
Duplication	NM_001458.5(FLNC):c.5904dup (p.Ile1969fs)	FLNC	Pathogenic	7	128492705	128492706	A	AG	criteria provided, single submitter	-
Duplication	NM_001458.5(FLNC):c.6242dup (p.Ser2082fs)	FLNC	Pathogenic	7	128493553	128493554	G	GC	criteria provided, single submitter	-
single nucleotide variant	NM_001458.5(FLNC):c.6883C>T (p.Gln2295Ter)	FLNC	Pathogenic	7	128494622	128494622	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001458.5(FLNC):c.7365C>A (p.Tyr2455Ter)	FLNC	Pathogenic	7	128496685	128496685	C	A	criteria provided, single submitter	-
Deletion	NM_032578.4(MYPN):c.3127del (p.Ser1043fs)	MYPN	Pathogenic/Likely pathogenic	10	69955258	69955258	CA	C	criteria provided, multiple submitters, no conflicts	-

1
...
176
177
178
179
180
...
182