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.2257C>T (p.Arg753Ter)	PALB2	Pathogenic	16	23641218	23641218	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA168247
Deletion	NM_024675.4(PALB2):c.226del (p.Ile76fs)	PALB2	Pathogenic/Likely pathogenic	16	23647641	23647641	AT	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA294388
single nucleotide variant	NM_024675.4(PALB2):c.1258C>T (p.Gln420Ter)	PALB2	Pathogenic	16	23646609	23646609	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA168278
Indel	NM_024675.4(PALB2):c.661_662delinsTA (p.Val221Ter)	PALB2	Pathogenic	16	23647205	23647206	AC	TA	criteria provided, multiple submitters, no conflicts	ClinGen:CA168666
single nucleotide variant	NM_024675.4(PALB2):c.3350+5G>A	PALB2	Likely pathogenic	16	23619180	23619180	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA168760
Duplication	NM_024675.4(PALB2):c.2931dup (p.Val978fs)	PALB2	Pathogenic	16	23634354	23634355	C	CT	criteria provided, multiple submitters, no conflicts	ClinGen:CA168770
Deletion	NM_024675.4(PALB2):c.2052del (p.Arg686fs)	PALB2	Pathogenic	16	23641423	23641423	TG	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA294475
Deletion	NM_024675.4(PALB2):c.2205del (p.Ala736fs)	PALB2	Pathogenic	16	23641270	23641270	CT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA170017
single nucleotide variant	NM_024675.4(PALB2):c.1108C>T (p.Gln370Ter)	PALB2	Pathogenic/Likely pathogenic	16	23646759	23646759	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA294547
Deletion	NM_024675.4(PALB2):c.156del (p.Glu53fs)	PALB2	Pathogenic	16	23649226	23649226	CT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA294551

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