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.8174G>A (p.Trp2725Ter)	BRCA2	Pathogenic	13	32937513	32937513	G	A	reviewed by expert panel	ClinGen:CA025488
Indel	NM_000059.4(BRCA2):c.8174_8185delinsTT (p.Trp2725fs)	BRCA2	Pathogenic	13	32937513	32937524	GGTATGCTGTTA	TT	reviewed by expert panel	ClinGen:CA025487
Deletion	NM_000059.4(BRCA2):c.8953+1del	BRCA2	Pathogenic/Likely pathogenic	13	32953652	32953652	AG	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA025888
single nucleotide variant	NM_000059.4(BRCA2):c.8978C>G (p.Ser2993Ter)	BRCA2	Pathogenic	13	32953911	32953911	C	G	reviewed by expert panel	ClinGen:CA025911
single nucleotide variant	NM_000059.4(BRCA2):c.9648+1G>C	BRCA2	Pathogenic/Likely pathogenic	13	32971182	32971182	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA026248
Deletion	NM_000059.4(BRCA2):c.9728del (p.Pro3243fs)	BRCA2	Pathogenic	13	32972377	32972377	AC	A	reviewed by expert panel	ClinGen:CA026286
Duplication	NM_000059.4(BRCA2):c.9891_9894dup (p.Gln3299fs)	BRCA2	Pathogenic	13	32972540	32972541	C	CATTT	reviewed by expert panel	ClinGen:CA026323
Deletion	NM_002878.4(RAD51D):c.363del (p.Ala122fs)	RAD51D	Pathogenic/Likely pathogenic	17	33434124	33434124	CT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA299897,OMIM:602954.0001
Insertion	NM_002878.4(RAD51D):c.270_271insTA (p.Lys91Ter)	RAD51D	Pathogenic	17	33434459	33434460	T	TTA	criteria provided, single submitter	ClinGen:CA299909
Deletion	NM_007294.4(BRCA1):c.5474_5481del (p.Gly1825fs)	BRCA1	Pathogenic	17	41197806	41197813	ACATCTGCC	A	reviewed by expert panel	ClinGen:CA003638

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