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.3008_3009del (p.Asn1002_Phe1003insTer)	BRCA1	Pathogenic	17	41244539	41244540	CAA	C	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):3127&base_change=del TT,ClinGen:CA001959
Deletion	NM_007294.4(BRCA1):c.3013del (p.Glu1005fs)	BRCA1	Pathogenic	17	41244535	41244535	TC	T	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):3132&base_change=del G,ClinGen:CA001967
Deletion	NM_007294.4(BRCA1):c.3018_3021del (p.His1006fs)	BRCA1	Pathogenic	17	41244527	41244530	TTGAA	T	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):3135&base_change=del CATT,Breast Cancer Information Core (BIC) (BRCA1):3137&base_change=del TTCA,ClinGen:CA001971
single nucleotide variant	NM_007294.4(BRCA1):c.302-1G>A	BRCA1	Pathogenic/Likely pathogenic	17	41256279	41256279	C	T	criteria provided, multiple submitters, no conflicts	Breast Cancer Information Core (BIC) (BRCA1):421-1&base_change=G to A,ClinGen:CA001974
single nucleotide variant	NM_007294.4(BRCA1):c.302-1G>C	BRCA1	Pathogenic	17	41256279	41256279	C	G	reviewed by expert panel	BRCA1-HCI:BRCA1_00121,ClinGen:CA001975
single nucleotide variant	NM_007294.4(BRCA1):c.302-2A>G	BRCA1	Pathogenic/Likely pathogenic	17	41256280	41256280	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA001981
Deletion	NM_007294.4(BRCA1):c.302-2del	BRCA1	Pathogenic	17	41256280	41256280	CT	C	reviewed by expert panel	ClinGen:CA001984,Breast Cancer Information Core (BIC) (BRCA1):421-2&base_change=del A
single nucleotide variant	NM_007294.4(BRCA1):c.3020C>G (p.Ser1007Ter)	BRCA1	Pathogenic	17	41244528	41244528	G	C	reviewed by expert panel	ClinGen:CA001973
single nucleotide variant	NM_007294.4(BRCA1):c.3026C>A (p.Ser1009Ter)	BRCA1	Pathogenic	17	41244522	41244522	G	T	reviewed by expert panel	ClinGen:CA001989
Deletion	NM_007294.4(BRCA1):c.3029_3030del (p.Pro1010fs)	BRCA1	Pathogenic	17	41244518	41244519	CAG	C	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):3148&base_change=del CT,ClinGen:CA001991

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