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.3441T>A (p.Cys1147Ter)	PALB2	Pathogenic	16	23614900	23614900	A	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_024675.4(PALB2):c.3425T>A (p.Leu1142Ter)	PALB2	Pathogenic	16	23614916	23614916	A	T	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_024675.4(PALB2):c.2619del (p.Ser873fs)	PALB2	Likely pathogenic	16	23637686	23637686	CA	C	criteria provided, single submitter	-
Deletion	NM_024675.4(PALB2):c.2100_2110del (p.Ser701fs)	PALB2	Pathogenic	16	23641365	23641375	AGTAATATGGAT	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_024675.4(PALB2):c.1845del (p.Asp616fs)	PALB2	Likely pathogenic	16	23641630	23641630	CA	C	criteria provided, single submitter	-
Deletion	NM_024675.4(PALB2):c.1789del (p.Met597fs)	PALB2	Pathogenic	16	23641686	23641686	AT	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_024675.4(PALB2):c.1288C>T (p.Gln430Ter)	PALB2	Pathogenic/Likely pathogenic	16	23646579	23646579	G	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_024675.4(PALB2):c.1227_1231del (p.Tyr409_Arg411delinsTer)	PALB2	Pathogenic/Likely pathogenic	16	23646636	23646640	CTAACA	C	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_024675.4(PALB2):c.841del (p.Ile281fs)	PALB2	Likely pathogenic	16	23647026	23647026	AT	A	criteria provided, single submitter	-
Duplication	NM_024675.4(PALB2):c.820dup (p.Thr274fs)	PALB2	Pathogenic/Likely pathogenic	16	23647046	23647047	G	GT	criteria provided, multiple submitters, no conflicts	-

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