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

Excelでダウンロード

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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.3129dup (p.Gln1044fs)	PALB2	Pathogenic	16	23625396	23625397	G	GA	criteria provided, single submitter	-
Deletion	NM_024675.4(PALB2):c.2762del (p.Gln921fs)	PALB2	Pathogenic	16	23635402	23635402	CT	C	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_024675.4(PALB2):c.274dup (p.Thr92fs)	PALB2	Pathogenic	16	23647592	23647593	G	GT	criteria provided, single submitter	-
Deletion	NC_000016.10:g.(?_23603449)_(23603679_?)del	PALB2	Pathogenic	16	23614770	23615000	na	na	criteria provided, single submitter	-
Duplication	NC_000016.9:g.(?_23619175)_(23619343_?)dup	PALB2	Likely pathogenic	16	23619175	23619343	na	na	criteria provided, single submitter	-
Deletion	NC_000016.10:g.(?_23621352)_(23641167_?)del	PALB2	Pathogenic	16	23632673	23652488	na	na	criteria provided, single submitter	-
Duplication	NM_024675.4(PALB2):c.3542_3543dup (p.Val1182fs)	PALB2	Pathogenic	16	23614797	23614798	C	CAA	criteria provided, single submitter	-
Deletion	NM_024675.4(PALB2):c.3297_3301del (p.Thr1100fs)	PALB2	Pathogenic	16	23619234	23619238	AGAGTC	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_024675.4(PALB2):c.396_397del (p.Val132_Ser133insTer)	PALB2	Pathogenic	16	23647470	23647471	CTG	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_024675.4(PALB2):c.868G>T (p.Glu290Ter)	PALB2	Pathogenic	16	23646999	23646999	C	A	criteria provided, multiple submitters, no conflicts	-

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