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
Deletion	NM_007294.4(BRCA1):c.4891del (p.Ser1631fs)	BRCA1	Pathogenic	17	41223040	41223040	CT	C	reviewed by expert panel	ClinGen:CA10589638
Duplication	NM_007294.4(BRCA1):c.4885dup (p.Glu1629fs)	BRCA1	Pathogenic	17	41223045	41223046	T	TC	reviewed by expert panel	ClinGen:CA10589639
Duplication	NM_007294.4(BRCA1):c.4878dup (p.Ala1627fs)	BRCA1	Pathogenic	17	41223052	41223053	C	CA	reviewed by expert panel	ClinGen:CA10589640
Deletion	NM_007294.4(BRCA1):c.4877del (p.Asn1626fs)	BRCA1	Pathogenic	17	41223054	41223054	AT	A	reviewed by expert panel	ClinGen:CA10589641
single nucleotide variant	NM_007294.4(BRCA1):c.4875T>A (p.Tyr1625Ter)	BRCA1	Pathogenic	17	41223056	41223056	A	T	reviewed by expert panel	ClinGen:CA10589642
Deletion	NM_007294.4(BRCA1):c.4834del (p.Gln1612fs)	BRCA1	Pathogenic	17	41223097	41223097	TG	T	reviewed by expert panel	ClinGen:CA10589643
Deletion	NM_007294.4(BRCA1):c.4784del (p.Ser1595fs)	BRCA1	Pathogenic	17	41223147	41223147	AG	A	reviewed by expert panel	ClinGen:CA10589644
Insertion	NM_007294.4(BRCA1):c.4758_4759insA (p.Ser1587fs)	BRCA1	Pathogenic	17	41223172	41223173	A	AT	reviewed by expert panel	ClinGen:CA10589645
Deletion	NM_007294.4(BRCA1):c.4743del (p.Asp1582fs)	BRCA1	Pathogenic	17	41223188	41223188	CT	C	reviewed by expert panel	ClinGen:CA10589646
Indel	NM_007294.4(BRCA1):c.4700_4710delinsA (p.Gly1567fs)	BRCA1	Pathogenic	17	41223221	41223231	GAGGCTGATTC	T	reviewed by expert panel	ClinGen:CA10589647

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