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

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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_007294.4(BRCA1):c.3800T>G (p.Leu1267Ter)	BRCA1	Pathogenic	17	41243748	41243748	A	C	reviewed by expert panel	ClinGen:CA10594370
Deletion	NM_002878.4(RAD51D):c.148del (p.Leu50fs)	RAD51D	Pathogenic	17	33445635	33445635	AG	A	criteria provided, single submitter	ClinGen:CA658798817
single nucleotide variant	NM_007294.4(BRCA1):c.53T>G (p.Met18Arg)	BRCA1	Likely pathogenic	17	41276061	41276061	A	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10602052
Indel	NM_007294.4(BRCA1):c.5155_5159delinsAAA (p.Val1719fs)	BRCA1	Pathogenic	17	41215384	41215388	GTCAC	TTT	criteria provided, single submitter	ClinGen:CA658798067
single nucleotide variant	NM_007294.4(BRCA1):c.4676-2A>C	BRCA1	Likely pathogenic	17	41223257	41223257	T	G	criteria provided, single submitter	ClinGen:CA10592158
Insertion	NM_007294.4(BRCA1):c.4654_4655insC (p.Tyr1552fs)	BRCA1	Pathogenic	17	41226368	41226369	T	TG	criteria provided, single submitter	ClinGen:CA658798840
single nucleotide variant	NM_007294.4(BRCA1):c.4039A>T (p.Arg1347Ter)	BRCA1	Pathogenic	17	41243509	41243509	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10593880
single nucleotide variant	NM_007294.4(BRCA1):c.5363G>C (p.Gly1788Ala)	BRCA1	Likely pathogenic	17	41201181	41201181	C	G	criteria provided, single submitter	ClinGen:CA10590739
Deletion	NM_058216.3(RAD51C):c.50del (p.Phe17fs)	RAD51C	Pathogenic/Likely pathogenic	17	56770052	56770052	GT	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA658798931
Duplication	NM_007294.4(BRCA1):c.1179_1180dup (p.Gly394fs)	BRCA1	Pathogenic	17	41246367	41246368	C	CCT	criteria provided, multiple submitters, no conflicts	ClinGen:CA658798850

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