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	NC_000016.10:g.(?_23603453)_(23614097_?)del	PALB2	Pathogenic	16	23614774	23625418	na	na	criteria provided, single submitter	-
Duplication	NM_024675.4(PALB2):c.3299_3306dup (p.Val1103fs)	PALB2	Pathogenic	16	23619228	23619229	C	CGCTGAGAG	criteria provided, multiple submitters, no conflicts	ClinGen:CA658658455
Duplication	NM_024675.4(PALB2):c.2959_2966dup (p.Glu990fs)	PALB2	Pathogenic/Likely pathogenic	16	23634319	23634320	T	TACTTGTTG	criteria provided, multiple submitters, no conflicts	ClinGen:CA10576108
Deletion	NM_024675.4(PALB2):c.1424del (p.Ser474_Ser475insTer)	PALB2	Pathogenic	16	23646443	23646443	TG	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA658658425
Deletion	NM_024675.4(PALB2):c.1046del (p.Asn349fs)	PALB2	Pathogenic	16	23646821	23646821	AT	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA658658433
Deletion	NM_024675.4(PALB2):c.635del (p.Pro212fs)	PALB2	Pathogenic	16	23647232	23647232	TG	T	criteria provided, single submitter	ClinGen:CA658658442
single nucleotide variant	NM_024675.4(PALB2):c.223A>T (p.Lys75Ter)	PALB2	Pathogenic	16	23647644	23647644	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA395138968
single nucleotide variant	NM_024675.4(PALB2):c.3436C>T (p.Gln1146Ter)	PALB2	Pathogenic	16	23614905	23614905	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA395138158
single nucleotide variant	NM_024675.4(PALB2):c.3324C>G (p.Tyr1108Ter)	PALB2	Pathogenic/Likely pathogenic	16	23619211	23619211	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA395139370
Deletion	NM_024675.4(PALB2):c.3157_3160del (p.Asp1053fs)	PALB2	Pathogenic	16	23625366	23625369	GAATC	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA658658458

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