PALB2変異陽性乳がん・膵臓がん - MGenReviews

PALB2変異陽性乳がん・膵臓がん

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
...
32
33
34
35
36
...
51

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_024675.4(PALB2):c.1064del (p.Ser354_Leu355insTer)	PALB2	Pathogenic	16	23646803	23646803	TA	T	criteria provided, single submitter	ClinGen:CA658658432
Deletion	NM_024675.4(PALB2):c.1873del (p.Glu625fs)	PALB2	Pathogenic	16	23641602	23641602	TC	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA658658415
Deletion	NM_024675.4(PALB2):c.1440del (p.Lys480fs)	PALB2	Pathogenic	16	23646427	23646427	GT	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA658658423
Deletion	NM_024675.4(PALB2):c.1266del (p.Lys422_Val423insTer)	PALB2	Pathogenic	16	23646601	23646601	CT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA658658426
Deletion	NM_024675.4(PALB2):c.1183del (p.Ser395fs)	PALB2	Pathogenic/Likely pathogenic	16	23646684	23646684	GA	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA658658428
Deletion	NM_024675.4(PALB2):c.1008_1009del (p.Leu337fs)	PALB2	Pathogenic	16	23646858	23646859	AAG	A	criteria provided, single submitter	ClinGen:CA658658434
single nucleotide variant	NM_024675.4(PALB2):c.854C>G (p.Ser285Ter)	PALB2	Pathogenic	16	23647013	23647013	G	C	criteria provided, single submitter	ClinGen:CA395135849
Deletion	NM_024675.4(PALB2):c.1192del (p.Val398fs)	PALB2	Pathogenic	16	23646675	23646675	AC	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA658658427
Deletion	NM_024675.4(PALB2):c.844_847del (p.Arg282fs)	PALB2	Pathogenic	16	23647020	23647023	AATCT	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA658658438
Deletion	NM_024675.4(PALB2):c.839del (p.Asn280fs)	PALB2	Pathogenic	16	23647028	23647028	GT	G	reviewed by expert panel	ClinGen:CA494462159

1
...
32
33
34
35
36
...
51