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

1
...
612
613
614
615
616
...
630

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.3665del (p.Glu1222fs)	BRCA1	Pathogenic	17	41243883	41243883	CT	C	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_007294.4(BRCA1):c.2740_2750del (p.Glu914fs)	BRCA1	Pathogenic	17	41244798	41244808	GATATTAGACTC	G	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_007294.4(BRCA1):c.2149_2152del (p.Glu717fs)	BRCA1	Pathogenic	17	41245396	41245399	AGTTC	A	criteria provided, single submitter	-
Deletion	NM_007294.4(BRCA1):c.1901_1910del (p.Pro634fs)	BRCA1	Pathogenic	17	41245638	41245647	AGTACAATTAG	A	criteria provided, single submitter	-
Deletion	NM_007294.4(BRCA1):c.1209del (p.Glu404fs)	BRCA1	Pathogenic	17	41246339	41246339	CA	C	criteria provided, single submitter	-
Insertion	NM_007294.4(BRCA1):c.624_625insAGGGATGAAATCAGGAACCA (p.Pro209fs)	BRCA1	Likely pathogenic	17	41247908	41247909	G	GTGGTTCCTGATTTCATCCCT	criteria provided, single submitter	-
Duplication	NM_007294.4(BRCA1):c.105dup (p.Ser36fs)	BRCA1	Pathogenic	17	41267771	41267772	A	AG	criteria provided, single submitter	-
single nucleotide variant	NM_058216.3(RAD51C):c.314C>G (p.Ser105Ter)	RAD51C	Pathogenic	17	56772460	56772460	C	G	criteria provided, single submitter	-
single nucleotide variant	NM_058216.3(RAD51C):c.692C>G (p.Ser231Ter)	RAD51C	Pathogenic	17	56780677	56780677	C	G	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_058216.3(RAD51C):c.802C>T (p.Gln268Ter)	RAD51C	Pathogenic	17	56787316	56787316	C	T	criteria provided, multiple submitters, no conflicts	-

1
...
612
613
614
615
616
...
630