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.1546del (p.Arg516fs)	PALB2	Pathogenic	16	23646321	23646321	CT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA164708
Indel	NM_024675.4(PALB2):c.26delinsCG (p.Leu9fs)	PALB2	Pathogenic	16	23652453	23652453	A	CG	criteria provided, single submitter	ClinGen:CA165127
Deletion	NM_024675.4(PALB2):c.654del (p.Asp219fs)	PALB2	Pathogenic	16	23647213	23647213	CT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA165253
single nucleotide variant	NM_024675.4(PALB2):c.3201+1G>T	PALB2	Likely pathogenic	16	23625324	23625324	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA165631
Deletion	NM_024675.4(PALB2):c.1037_1041del (p.Lys346fs)	PALB2	Pathogenic	16	23646826	23646830	GTTCTT	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA165692
Deletion	NM_024675.4(PALB2):c.2964del (p.Gln988_Val989insTer)	PALB2	Pathogenic	16	23634322	23634322	CT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA165782
single nucleotide variant	NM_024675.4(PALB2):c.424A>T (p.Lys142Ter)	PALB2	Pathogenic	16	23647443	23647443	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA166400
single nucleotide variant	NM_024675.4(PALB2):c.3476G>A (p.Trp1159Ter)	PALB2	Pathogenic	16	23614865	23614865	C	T	criteria provided, single submitter	ClinGen:CA166575
Deletion	NM_024675.4(PALB2):c.599del (p.Leu199_Leu200insTer)	PALB2	Pathogenic	16	23647268	23647268	TA	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA166678
Duplication	NM_024675.4(PALB2):c.850dup (p.Thr284fs)	PALB2	Pathogenic	16	23647016	23647017	G	GT	criteria provided, single submitter	ClinGen:CA167396

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