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

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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
Deletion	NM_000059.4(BRCA2):c.8930del (p.Tyr2977fs)	BRCA2	Pathogenic	13	32953629	32953629	TA	T	reviewed by expert panel	ClinGen:CA10576075
Deletion	NM_000059.4(BRCA2):c.9053_9057del (p.Ser3018fs)	BRCA2	Pathogenic	13	32953983	32953987	AAAAGT	A	reviewed by expert panel	ClinGen:CA10576076
Deletion	NM_000059.4(BRCA2):c.9117+1del	BRCA2	Pathogenic/Likely pathogenic	13	32954050	32954050	CG	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10576077
single nucleotide variant	NM_000059.4(BRCA2):c.1832C>G (p.Ser611Ter)	BRCA2	Pathogenic	13	32907447	32907447	C	G	reviewed by expert panel	ClinGen:CA501226
single nucleotide variant	NM_000059.4(BRCA2):c.3187C>T (p.Gln1063Ter)	BRCA2	Pathogenic	13	32911679	32911679	C	T	reviewed by expert panel	ClinGen:CA10576940
single nucleotide variant	NM_000059.4(BRCA2):c.4651C>T (p.Gln1551Ter)	BRCA2	Pathogenic	13	32913143	32913143	C	T	reviewed by expert panel	ClinGen:CA10577473
single nucleotide variant	NM_000059.4(BRCA2):c.5134G>T (p.Gly1712Ter)	BRCA2	Pathogenic	13	32913626	32913626	G	T	reviewed by expert panel	ClinGen:CA10577476
Deletion	NM_000059.4(BRCA2):c.5962del (p.Val1988fs)	BRCA2	Pathogenic	13	32914453	32914453	AG	A	reviewed by expert panel	ClinGen:CA10577479
single nucleotide variant	NM_000059.4(BRCA2):c.9381G>A (p.Trp3127Ter)	BRCA2	Pathogenic	13	32968950	32968950	G	A	reviewed by expert panel	ClinGen:CA10577497
Insertion	NM_000059.4(BRCA2):c.9517_9518insTCTAAGTCAAATGTTTTCAAAACAATTGACATTGTTTTCT (p.Cys3173delinsPheTer)	BRCA2	Pathogenic	13	32971049	32971050	T	TTTCTAAGTCAAATGTTTTCAAAACAATTGACATTGTTTTC	criteria provided, single submitter	ClinGen:CA10577501

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