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.(?_23603459)_(23608012_?)del	PALB2	Pathogenic	16	23614780	23619333	na	na	criteria provided, single submitter	-
Deletion	NC_000016.10:g.(?_23603459)_(23626397_?)del	PALB2	Pathogenic	16	23614780	23637718	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_024675.4(PALB2):c.643G>T (p.Glu215Ter)	PALB2	Pathogenic	16	23647224	23647224	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA395136539
Deletion	NM_024675.4(PALB2):c.3143del (p.Lys1048fs)	PALB2	Pathogenic	16	23625383	23625383	CT	C	criteria provided, single submitter	ClinGen:CA645509220
Duplication	NM_024675.3(PALB2):c.3350+1090_*1278dup	PALB2	Likely pathogenic	16	23613502	23618095	na	na	criteria provided, single submitter	ClinGen:CA645372597
Duplication	NM_024675.4(PALB2):c.2298dup (p.Val767fs)	PALB2	Pathogenic	16	23641176	23641177	C	CT	criteria provided, multiple submitters, no conflicts	ClinGen:CA645509222
Deletion	NM_024675.4(PALB2):c.1753del (p.Asp585fs)	PALB2	Pathogenic/Likely pathogenic	16	23641722	23641722	TC	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA645509223
single nucleotide variant	NM_024675.4(PALB2):c.62T>G (p.Leu21Ter)	PALB2	Pathogenic	16	23649437	23649437	A	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA7963863
single nucleotide variant	NM_024675.4(PALB2):c.3324C>A (p.Tyr1108Ter)	PALB2	Likely pathogenic	16	23619211	23619211	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA395139372
single nucleotide variant	NM_024675.4(PALB2):c.1685-2A>G	PALB2	Likely pathogenic	16	23641792	23641792	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA7963669

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