ウィルムス腫瘍 - MGenReviews

ウィルムス腫瘍

腫瘍性疾患

疾患の紹介

病的バリアントリスト

Excelでダウンロード

1
...
165
166
167
168
169
...
330

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_000059.4(BRCA2):c.2606C>G (p.Ser869Ter)	BRCA2	Pathogenic	13	32911098	32911098	C	G	reviewed by expert panel	ClinGen:CA10586061
Duplication	NM_000059.3(BRCA2):c.4228_4229insA (p.Thr1410Asnfs)	BRCA2	Pathogenic	13	32912718	32912719	T	TA	reviewed by expert panel	ClinGen:CA10586066
Duplication	NM_000059.3(BRCA2):c.4722dup (p.Asp1575fs)	BRCA2	Pathogenic	13	32913211	32913212	T	TA	reviewed by expert panel	ClinGen:CA10586069
Deletion	NM_000059.4(BRCA2):c.4731del (p.Glu1577fs)	BRCA2	Pathogenic	13	32913222	32913222	GA	G	reviewed by expert panel	ClinGen:CA10586070
Deletion	NM_000059.4(BRCA2):c.5241del (p.Asn1747fs)	BRCA2	Pathogenic	13	32913733	32913733	AC	A	reviewed by expert panel	ClinGen:CA10586072
single nucleotide variant	NM_000059.4(BRCA2):c.5293A>T (p.Lys1765Ter)	BRCA2	Pathogenic	13	32913785	32913785	A	T	reviewed by expert panel	ClinGen:CA10586073
Deletion	NM_000059.4(BRCA2):c.5590_5593del (p.Asp1864fs)	BRCA2	Pathogenic	13	32914081	32914084	AAGAC	A	reviewed by expert panel	ClinGen:CA10586075
Duplication	NM_000059.4(BRCA2):c.7654dup (p.Ile2552fs)	BRCA2	Pathogenic	13	32931910	32931911	T	TA	reviewed by expert panel	ClinGen:CA10586078
Deletion	NM_000059.3(BRCA2):c.8312del (p.Pro2771fs)	BRCA2	Pathogenic	13	32937648	32937648	GC	G	reviewed by expert panel	ClinGen:CA10586084
single nucleotide variant	NM_000059.4(BRCA2):c.9285C>A (p.Asp3095Glu)	BRCA2	Pathogenic/Likely pathogenic	13	32968854	32968854	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10586089

1
...
165
166
167
168
169
...
330