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
Duplication	NM_024675.4(PALB2):c.1652dup (p.Tyr551Ter)	PALB2	Pathogenic	16	23646214	23646215	A	AT	criteria provided, single submitter	-
single nucleotide variant	NM_024675.4(PALB2):c.778C>T (p.Gln260Ter)	PALB2	Pathogenic	16	23647089	23647089	G	A	criteria provided, single submitter	-
Deletion	NC_000016.10:g.(?_23603449)_(23626407_?)del	PALB2	Pathogenic	16	23614770	23637728	na	na	criteria provided, single submitter	-
Deletion	NC_000016.10:g.(?_23626226)_(23630479_?)del	PALB2	Pathogenic	16	23637547	23641800	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_024675.4(PALB2):c.3340C>T (p.Gln1114Ter)	PALB2	Pathogenic	16	23619195	23619195	G	A	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_024675.4(PALB2):c.3008dup (p.Asn1003fs)	PALB2	Pathogenic	16	23632787	23632788	G	GT	criteria provided, single submitter	-
Duplication	NM_024675.4(PALB2):c.1212dup (p.Pro405fs)	PALB2	Pathogenic	16	23646654	23646655	G	GA	criteria provided, single submitter	-
Deletion	NM_024675.4(PALB2):c.1152del (p.Ala385fs)	PALB2	Pathogenic	16	23646715	23646715	CT	C	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_024675.4(PALB2):c.995_996del (p.Leu332fs)	PALB2	Pathogenic	16	23646871	23646872	TGA	T	criteria provided, single submitter	-
Deletion	NM_024675.4(PALB2):c.532del (p.Glu178fs)	PALB2	Pathogenic	16	23647335	23647335	TC	T	reviewed by expert panel	-

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