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
single nucleotide variant	NM_024675.4(PALB2):c.2835-1G>A	PALB2	Pathogenic/Likely pathogenic	16	23634452	23634452	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA334206
Deletion	NM_024675.4(PALB2):c.2597del (p.Gly866fs)	PALB2	Pathogenic	16	23637708	23637708	AC	A	criteria provided, single submitter	ClinGen:CA334362
Insertion	NM_024675.4(PALB2):c.1966_1967insAGAGGAAGCTGTATTTTTC (p.Pro656fs)	PALB2	Pathogenic	16	23641508	23641509	G	GGAAAAATACAGCTTCCTCT	criteria provided, multiple submitters, no conflicts	ClinGen:CA334264
Deletion	NM_024675.3(PALB2):c.3114-?_3201+?del	PALB2	Pathogenic	16	23625325	23625412	na	na	criteria provided, single submitter	-
Duplication	NM_024675.3(PALB2):c.3114-?_3201+?dup88	PALB2	Likely pathogenic	16	23625325	23625412	na	na	criteria provided, single submitter	-
Deletion	NM_024675.3(PALB2):c.2587-?_2748+?del	PALB2	Pathogenic/Likely pathogenic	16	23637557	23637718	na	na	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_024675.4(PALB2):c.2515-1G>C	PALB2	Likely pathogenic	16	23640597	23640597	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA337588
Duplication	NM_024675.4(PALB2):c.2470dup (p.Cys824fs)	PALB2	Pathogenic	16	23641004	23641005	C	CA	criteria provided, multiple submitters, no conflicts	ClinGen:CA338358
Deletion	NM_024675.3(PALB2):c.3202-?_*(1_?)del	PALB2	Pathogenic	16	23614779	23619333	na	na	criteria provided, single submitter	-
Deletion	NM_024675.3(PALB2):c.3114-?_*(1_?)del	PALB2	Pathogenic	16	23614779	23625412	na	na	criteria provided, single submitter	-

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