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
...
528
529
530
531
532
...
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
Indel	NM_007294.4(BRCA1):c.279_280delinsGAA (p.Phe93fs)	BRCA1	Pathogenic	17	41256906	41256907	GA	TTC	criteria provided, multiple submitters, no conflicts	ClinGen:CA658656668
Indel	NM_007294.4(BRCA1):c.122_134delinsT (p.His41_Lys45delinsLeu)	BRCA1	Likely pathogenic	17	41267743	41267755	TTGCAAAATATGT	A	criteria provided, single submitter	ClinGen:CA658656687
Deletion	NM_007294.4(BRCA1):c.2680_2687del (p.Lys894fs)	BRCA1	Pathogenic	17	41244861	41244868	ACTTTGTTT	A	criteria provided, single submitter	ClinGen:CA658656675
single nucleotide variant	NM_007294.4(BRCA1):c.191G>C (p.Cys64Ser)	BRCA1	Pathogenic	17	41258494	41258494	C	G	criteria provided, single submitter	ClinGen:CA10601786
Deletion	NM_058216.3(RAD51C):c.890_899del (p.Leu297fs)	RAD51C	Pathogenic	17	56798156	56798165	TTGCTTGTTCC	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA658658626
single nucleotide variant	NM_058216.3(RAD51C):c.250A>T (p.Lys84Ter)	RAD51C	Pathogenic/Likely pathogenic	17	56772396	56772396	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA400340403
Deletion	NM_000059.4(BRCA2):c.217del (p.Gln73fs)	BRCA2	Pathogenic	13	32893363	32893363	TC	T	criteria provided, single submitter	ClinGen:CA658656334
Deletion	NM_000059.4(BRCA2):c.831del (p.Asn277fs)	BRCA2	Pathogenic/Likely pathogenic	13	32906446	32906446	AT	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA658656374
Deletion	NM_000059.4(BRCA2):c.428del (p.Pro143fs)	BRCA2	Pathogenic	13	32900239	32900239	TC	T	criteria provided, single submitter	ClinGen:CA658656341
single nucleotide variant	NM_000059.4(BRCA2):c.473C>G (p.Ser158Ter)	BRCA2	Pathogenic	13	32900285	32900285	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA387757253

1
...
528
529
530
531
532
...
630