遺伝性乳がん・卵巣がん症候群 - MGenReviews

遺伝性乳がん・卵巣がん症候群

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
single nucleotide variant	NM_000059.4(BRCA2):c.4689G>A (p.Trp1563Ter)	BRCA2	Pathogenic	13	32913181	32913181	G	A	reviewed by expert panel	ClinGen:CA10586527
Deletion	NM_000059.4(BRCA2):c.4794_4797del (p.Asn1599fs)	BRCA2	Pathogenic	13	32913285	32913288	CTCAA	C	reviewed by expert panel	ClinGen:CA6940812
Deletion	NM_000059.4(BRCA2):c.4821_4822del (p.Glu1608fs)	BRCA2	Pathogenic	13	32913313	32913314	TTG	T	reviewed by expert panel	ClinGen:CA6940818
single nucleotide variant	NM_000059.4(BRCA2):c.4904T>A (p.Leu1635Ter)	BRCA2	Pathogenic	13	32913396	32913396	T	A	reviewed by expert panel	ClinGen:CA10586528
single nucleotide variant	NM_000059.4(BRCA2):c.4936G>T (p.Glu1646Ter)	BRCA2	Pathogenic	13	32913428	32913428	G	T	reviewed by expert panel	ClinGen:CA10586529
Deletion	NM_000059.4(BRCA2):c.4940del (p.Thr1647fs)	BRCA2	Pathogenic	13	32913432	32913432	AC	A	reviewed by expert panel	ClinGen:CA10586530
Indel	NM_000059.4(BRCA2):c.4965delinsGA (p.Tyr1655Ter)	BRCA2	Pathogenic	13	32913457	32913457	C	GA	reviewed by expert panel	ClinGen:CA10586531
single nucleotide variant	NM_000059.4(BRCA2):c.4972C>T (p.Gln1658Ter)	BRCA2	Pathogenic	13	32913464	32913464	C	T	reviewed by expert panel	ClinGen:CA10586532
single nucleotide variant	NM_000059.4(BRCA2):c.5057T>A (p.Leu1686Ter)	BRCA2	Pathogenic	13	32913549	32913549	T	A	reviewed by expert panel	ClinGen:CA10586533
Deletion	NM_000059.4(BRCA2):c.5070_5073del (p.Lys1690fs)	BRCA2	Pathogenic	13	32913559	32913562	CAAAA	C	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):5296&base_change=del AAAA,ClinGen:CA021198

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