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.2512C>T (p.Gln838Ter)	PALB2	Pathogenic/Likely pathogenic	16	23640963	23640963	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA395123923
Duplication	NM_024675.4(PALB2):c.2255_2267dup (p.Cys756fs)	PALB2	Pathogenic	16	23641207	23641208	G	GCAGCAAGTTCGTC	criteria provided, multiple submitters, no conflicts	ClinGen:CA658658405
Deletion	NM_024675.4(PALB2):c.2219_2220del (p.Gln740fs)	PALB2	Pathogenic	16	23641255	23641256	CTT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA658658406
Insertion	NM_024675.4(PALB2):c.2160_2161insG (p.Thr721fs)	PALB2	Pathogenic	16	23641314	23641315	T	TC	criteria provided, single submitter	ClinGen:CA658658409
Deletion	NM_024675.4(PALB2):c.2002del (p.Met668fs)	PALB2	Pathogenic	16	23641473	23641473	AT	A	criteria provided, single submitter	ClinGen:CA658658410
Deletion	NM_024675.4(PALB2):c.1653del (p.Gln552fs)	PALB2	Pathogenic	16	23646214	23646214	GA	G	criteria provided, single submitter	ClinGen:CA658658420
single nucleotide variant	NM_024675.4(PALB2):c.1648A>T (p.Lys550Ter)	PALB2	Pathogenic	16	23646219	23646219	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA395130127
Deletion	NM_024675.4(PALB2):c.905del (p.Asn302fs)	PALB2	Pathogenic	16	23646962	23646962	GT	G	criteria provided, single submitter	ClinGen:CA658658437
Deletion	NM_024675.4(PALB2):c.810_828del (p.Ser270fs)	PALB2	Pathogenic	16	23647039	23647057	CGTGAGTAGTAAGTTCACTG	C	criteria provided, single submitter	ClinGen:CA658658439
single nucleotide variant	NM_024675.4(PALB2):c.814G>T (p.Glu272Ter)	PALB2	Pathogenic	16	23647053	23647053	C	A	criteria provided, single submitter	ClinGen:CA395135986

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