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
Insertion	NM_024675.4(PALB2):c.774_775insC (p.Ser259fs)	PALB2	Likely pathogenic	16	23647092	23647093	T	TG	criteria provided, single submitter	-
Deletion	NM_024675.4(PALB2):c.770del (p.Gly257fs)	PALB2	Likely pathogenic	16	23647097	23647097	AC	A	criteria provided, single submitter	-
Duplication	NM_024675.4(PALB2):c.502dup (p.Ser168fs)	PALB2	Pathogenic	16	23647364	23647365	G	GA	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_024675.4(PALB2):c.204del (p.Lys68fs)	PALB2	Pathogenic	16	23649178	23649178	GT	G	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_024675.4(PALB2):c.117_120dup (p.Ala41fs)	PALB2	Likely pathogenic	16	23649261	23649262	C	CTCTT	criteria provided, single submitter	-
Deletion	NM_024675.4(PALB2):c.1725del (p.Ser574_Trp575insTer)	PALB2	Likely pathogenic	16	23641750	23641750	TC	T	criteria provided, single submitter	-
Deletion	NM_024675.4(PALB2):c.1103del (p.Asn368fs)	PALB2	Pathogenic/Likely pathogenic	16	23646764	23646764	AT	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_024675.4(PALB2):c.666_669del (p.Leu222fs)	PALB2	Likely pathogenic	16	23647198	23647201	GAATT	G	criteria provided, single submitter	-
single nucleotide variant	NM_024675.4(PALB2):c.475G>T (p.Glu159Ter)	PALB2	Pathogenic/Likely pathogenic	16	23647392	23647392	C	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_024675.4(PALB2):c.212-2A>T	PALB2	Likely pathogenic	16	23647657	23647657	T	A	criteria provided, single submitter	-

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