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

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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
Indel	NM_024675.4(PALB2):c.2999_3001delinsAC (p.Gly1000fs)	PALB2	Pathogenic	16	23632795	23632797	TGC	GT	criteria provided, single submitter	-
Deletion	NM_024675.4(PALB2):c.2838_2842del (p.Cys949fs)	PALB2	Pathogenic	16	23634444	23634448	AACAAT	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_024675.4(PALB2):c.2773del (p.Val925fs)	PALB2	Pathogenic	16	23635391	23635391	AC	A	criteria provided, single submitter	-
single nucleotide variant	NM_024675.4(PALB2):c.2566C>T (p.Gln856Ter)	PALB2	Pathogenic/Likely pathogenic	16	23640545	23640545	G	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_024675.4(PALB2):c.2560_2561del (p.Asn854fs)	PALB2	Pathogenic	16	23640550	23640551	GTT	G	criteria provided, single submitter	-
single nucleotide variant	NM_024675.4(PALB2):c.2422G>T (p.Gly808Ter)	PALB2	Pathogenic	16	23641053	23641053	C	A	criteria provided, single submitter	-
Deletion	NM_024675.4(PALB2):c.2298_2301del (p.Cys768fs)	PALB2	Pathogenic	16	23641174	23641177	AGACT	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_024675.4(PALB2):c.2295del (p.Ser766fs)	PALB2	Pathogenic	16	23641180	23641180	AG	A	criteria provided, single submitter	-
Insertion	NM_024675.4(PALB2):c.2185_2186insA (p.Pro729fs)	PALB2	Pathogenic	16	23641289	23641290	G	GT	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_024675.4(PALB2):c.1965del (p.Pro656fs)	PALB2	Pathogenic	16	23641510	23641510	GA	G	criteria provided, multiple submitters, no conflicts	-

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