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.3323del (p.Tyr1108fs)	PALB2	Pathogenic	16	23619212	23619212	GT	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA169555
single nucleotide variant	NM_024675.4(PALB2):c.3350+4A>G	PALB2	Likely pathogenic	16	23619181	23619181	T	C	reviewed by expert panel	ClinGen:CA269618
Deletion	NM_024675.4(PALB2):c.3362del (p.Gly1121fs)	PALB2	Likely pathogenic	16	23614979	23614979	AC	A	reviewed by expert panel	ClinGen:CA167019
Deletion	NM_024675.4(PALB2):c.3497del (p.Gly1166fs)	PALB2	Pathogenic	16	23614844	23614844	AC	A	criteria provided, single submitter	ClinGen:CA151249
Deletion	NM_024675.4(PALB2):c.395del (p.Val132fs)	PALB2	Pathogenic	16	23647472	23647472	GA	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA269628
single nucleotide variant	NM_024675.4(PALB2):c.503C>A (p.Ser168Ter)	PALB2	Pathogenic/Likely pathogenic	16	23647364	23647364	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA269633
Deletion	NM_024675.4(PALB2):c.509_510del (p.Arg170fs)	PALB2	Pathogenic	16	23647357	23647358	ATC	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA214889
Deletion	NM_024675.4(PALB2):c.697del (p.Val233fs)	PALB2	Pathogenic	16	23647170	23647170	AC	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA331802
Deletion	NM_024675.4(PALB2):c.72del (p.Arg26fs)	PALB2	Pathogenic/Likely pathogenic	16	23649427	23649427	TC	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA151253
single nucleotide variant	NM_024675.4(PALB2):c.751C>T (p.Gln251Ter)	PALB2	Pathogenic	16	23647116	23647116	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA269645

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