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.3017del (p.Phe1005_Leu1006insTer)	PALB2	Pathogenic/Likely pathogenic	16	23632779	23632779	CA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10588604
single nucleotide variant	NM_024675.4(PALB2):c.2996+1G>T	PALB2	Likely pathogenic	16	23634289	23634289	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10588605
single nucleotide variant	NM_024675.4(PALB2):c.2835-2A>C	PALB2	Likely pathogenic	16	23634453	23634453	T	G	criteria provided, single submitter	ClinGen:CA10588606
single nucleotide variant	NM_024675.4(PALB2):c.2514+1G>C	PALB2	Likely pathogenic	16	23640960	23640960	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10588607
single nucleotide variant	NM_024675.4(PALB2):c.2368C>T (p.Gln790Ter)	PALB2	Pathogenic/Likely pathogenic	16	23641107	23641107	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10588608
Deletion	NM_024675.4(PALB2):c.1650del (p.Lys550fs)	PALB2	Likely pathogenic	16	23646217	23646217	AT	A	criteria provided, single submitter	ClinGen:CA10588609
single nucleotide variant	NM_024675.4(PALB2):c.1496T>A (p.Leu499Ter)	PALB2	Pathogenic/Likely pathogenic	16	23646371	23646371	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10588610
single nucleotide variant	NM_024675.4(PALB2):c.1424C>G (p.Ser475Ter)	PALB2	Pathogenic/Likely pathogenic	16	23646443	23646443	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10588611
Deletion	NM_024675.4(PALB2):c.1048del (p.Gln350fs)	PALB2	Likely pathogenic	16	23646819	23646819	TG	T	criteria provided, single submitter	ClinGen:CA10588612
Deletion	NM_024675.4(PALB2):c.544del (p.Ile182fs)	PALB2	Pathogenic	16	23647323	23647323	AT	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10588613

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