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.2066C>A (p.Ser689Ter)	PALB2	Pathogenic	16	23641409	23641409	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10584512
Deletion	NM_024675.4(PALB2):c.1714del (p.Ser572fs)	PALB2	Likely pathogenic	16	23641761	23641761	GA	G	criteria provided, single submitter	ClinGen:CA10584515
Deletion	NM_024675.4(PALB2):c.1538del (p.Thr513fs)	PALB2	Pathogenic/Likely pathogenic	16	23646329	23646329	TG	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10584518
single nucleotide variant	NM_024675.4(PALB2):c.472C>T (p.Gln158Ter)	PALB2	Pathogenic/Likely pathogenic	16	23647395	23647395	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10584523
Duplication	NM_024675.4(PALB2):c.12dup (p.Pro5fs)	PALB2	Pathogenic	16	23652466	23652467	G	GA	criteria provided, multiple submitters, no conflicts	ClinGen:CA10584526
single nucleotide variant	NM_024675.4(PALB2):c.1A>G (p.Met1Val)	PALB2	Likely pathogenic	16	23652478	23652478	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10584527
Deletion	NM_024675.4(PALB2):c.3295_3301del (p.Thr1099fs)	PALB2	Likely pathogenic	16	23619234	23619240	AGAGTCGT	A	criteria provided, single submitter	ClinGen:CA10588599
single nucleotide variant	NM_024675.4(PALB2):c.3234T>A (p.Cys1078Ter)	PALB2	Pathogenic/Likely pathogenic	16	23619301	23619301	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10588601
single nucleotide variant	NM_024675.4(PALB2):c.3114-1G>A	PALB2	Likely pathogenic	16	23625413	23625413	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10588602
Deletion	NM_024675.4(PALB2):c.3041_3042del (p.Leu1014fs)	PALB2	Likely pathogenic	16	23632754	23632755	TTA	T	criteria provided, single submitter	ClinGen:CA10588603

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