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.1571C>G (p.Ser524Ter)	PALB2	Pathogenic	16	23646296	23646296	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA294552
single nucleotide variant	NM_024675.4(PALB2):c.2074C>T (p.Gln692Ter)	PALB2	Likely pathogenic	16	23641401	23641401	G	A	reviewed by expert panel	ClinGen:CA294556
single nucleotide variant	NM_024675.4(PALB2):c.2834+1G>T	PALB2	Pathogenic/Likely pathogenic	16	23635329	23635329	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA294560
Deletion	NM_024675.4(PALB2):c.2888del (p.Ser963fs)	PALB2	Pathogenic	16	23634398	23634398	AG	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA294561
Duplication	NM_024675.4(PALB2):c.3426dup (p.Leu1143fs)	PALB2	Pathogenic	16	23614914	23614915	G	GT	criteria provided, multiple submitters, no conflicts	ClinGen:CA294563
single nucleotide variant	NM_024675.4(PALB2):c.451C>T (p.Gln151Ter)	PALB2	Pathogenic	16	23647416	23647416	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA294565
single nucleotide variant	NM_024675.4(PALB2):c.48G>A (p.Lys16=)	PALB2	Pathogenic/Likely pathogenic	16	23652431	23652431	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA294568
Deletion	NM_024675.4(PALB2):c.886del (p.Lys295_Met296insTer)	PALB2	Pathogenic	16	23646981	23646981	AT	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA294571
Deletion	NM_024675.4(PALB2):c.956_962del (p.Ser318_Ser319insTer)	PALB2	Pathogenic	16	23646905	23646911	TAAATTAG	T	criteria provided, single submitter	ClinGen:CA294572
single nucleotide variant	NM_024675.4(PALB2):c.2834+1G>A	PALB2	Pathogenic/Likely pathogenic	16	23635329	23635329	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA299740

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