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
Deletion	NM_024675.4(PALB2):c.1437_1438del (p.Lys480fs)	PALB2	Pathogenic	16	23646429	23646430	TTC	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA658683910
Deletion	NM_024675.4(PALB2):c.546del (p.Ser183fs)	PALB2	Pathogenic	16	23647321	23647321	TG	T	criteria provided, single submitter	ClinGen:CA658683923
single nucleotide variant	NM_024675.4(PALB2):c.211+1G>A	PALB2	Likely pathogenic	16	23649170	23649170	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA395139005
single nucleotide variant	NM_024675.4(PALB2):c.3166C>T (p.Gln1056Ter)	PALB2	Pathogenic	16	23625360	23625360	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA279530832
Deletion	NM_024675.4(PALB2):c.1914del (p.Phe638fs)	PALB2	Pathogenic	16	23641561	23641561	CA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA658683932
Duplication	NM_024675.4(PALB2):c.1276dup (p.Glu426fs)	PALB2	Pathogenic	16	23646590	23646591	T	TC	criteria provided, single submitter	ClinGen:CA658683912
single nucleotide variant	NM_024675.4(PALB2):c.3350+2C>G	PALB2	Likely pathogenic	16	23619183	23619183	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA395139182
Deletion	NM_024675.4(PALB2):c.1140_1143del (p.Ser380fs)	PALB2	Pathogenic	16	23646724	23646727	TAAGA	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA621661731
Duplication	NM_024675.4(PALB2):c.1032_1033dup (p.Leu345fs)	PALB2	Pathogenic	16	23646833	23646834	A	AAG	criteria provided, multiple submitters, no conflicts	ClinGen:CA658683915
Deletion	NM_024675.4(PALB2):c.3228del (p.Cys1078fs)	PALB2	Pathogenic	16	23619307	23619307	GA	G	criteria provided, single submitter	ClinGen:CA658683911

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