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.2727_2728del (p.Thr911fs)	PALB2	Pathogenic/Likely pathogenic	16	23637577	23637578	TAA	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA299664
Duplication	NM_024675.4(PALB2):c.2642_2645dup (p.Cys882fs)	PALB2	Pathogenic	16	23637659	23637660	A	ACAAC	criteria provided, multiple submitters, no conflicts	ClinGen:CA299663
single nucleotide variant	NM_024675.4(PALB2):c.2229T>A (p.Tyr743Ter)	PALB2	Pathogenic/Likely pathogenic	16	23641246	23641246	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA299725
Deletion	NM_024675.4(PALB2):c.2154del (p.Arg718fs)	PALB2	Pathogenic	16	23641321	23641321	GC	G	criteria provided, single submitter	ClinGen:CA299662
Deletion	NM_024675.4(PALB2):c.2032del (p.Leu678fs)	PALB2	Pathogenic	16	23641443	23641443	AG	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA299661
Deletion	NM_024675.4(PALB2):c.1924del (p.Met642fs)	PALB2	Pathogenic/Likely pathogenic	16	23641551	23641551	AT	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA299660
single nucleotide variant	NM_024675.4(PALB2):c.1724G>A (p.Trp575Ter)	PALB2	Pathogenic/Likely pathogenic	16	23641751	23641751	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA299691
Deletion	NM_024675.4(PALB2):c.1059del (p.Lys353fs)	PALB2	Pathogenic	16	23646808	23646808	AT	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA299667
Deletion	NM_024675.4(PALB2):c.948del (p.Thr317fs)	PALB2	Pathogenic	16	23646919	23646919	TG	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA299666
Deletion	NM_024675.4(PALB2):c.786del (p.Glu263fs)	PALB2	Pathogenic	16	23647081	23647081	CA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA299665

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