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
...
173
174
175
176
177
...
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
Insertion	NM_001267550.2(TTN):c.82684_82685insSVAelement	TTN	Likely pathogenic	2	179428174	179428175	na	na	criteria provided, single submitter	-
Deletion	NM_001267550.2(TTN):c.82226del (p.Lys27409fs)	TTN	Likely pathogenic	2	179428633	179428633	CT	C	criteria provided, single submitter	-
Deletion	NM_001267550.2(TTN):c.81718del (p.Arg27240fs)	TTN	Likely pathogenic	2	179429141	179429141	CT	C	criteria provided, single submitter	-
Deletion	NM_001267550.2(TTN):c.81323del (p.His27108fs)	TTN	Likely pathogenic	2	179429536	179429536	AT	A	criteria provided, single submitter	-
Deletion	NM_001267550.2(TTN):c.80736_80742del (p.Trp26913fs)	TTN	Likely pathogenic	2	179430117	179430123	TGACCCAA	T	criteria provided, single submitter	-
single nucleotide variant	NM_001267550.2(TTN):c.80547T>G (p.Tyr26849Ter)	TTN	Likely pathogenic	2	179430312	179430312	A	C	criteria provided, single submitter	-
single nucleotide variant	NM_001267550.2(TTN):c.79539T>A (p.Tyr26513Ter)	TTN	Likely pathogenic	2	179431320	179431320	A	T	criteria provided, single submitter	-
single nucleotide variant	NM_001267550.2(TTN):c.78249T>G (p.Tyr26083Ter)	TTN	Likely pathogenic	2	179432610	179432610	A	C	criteria provided, single submitter	-
single nucleotide variant	NM_001267550.2(TTN):c.77248C>T (p.Arg25750Ter)	TTN	Likely pathogenic	2	179433611	179433611	G	A	criteria provided, single submitter	-
Duplication	NM_001267550.2(TTN):c.77145dup (p.Ser25716fs)	TTN	Likely pathogenic	2	179433713	179433714	A	AG	criteria provided, multiple submitters, no conflicts	-

1
...
173
174
175
176
177
...
182