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
Duplication	NM_024675.4(PALB2):c.758dup (p.Ser254fs)	PALB2	Pathogenic/Likely pathogenic	16	23647108	23647109	T	TA	criteria provided, multiple submitters, no conflicts	ClinGen:CA294009
single nucleotide variant	NM_024675.4(PALB2):c.1240C>T (p.Arg414Ter)	PALB2	Pathogenic	16	23646627	23646627	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA288395
Inversion	NM_024675.3(PALB2):c.1675_1676inv (p.Gln559Ter)	PALB2	Pathogenic	16	23646191	23646192	TG	CA	criteria provided, multiple submitters, no conflicts	ClinGen:CA288410
Deletion	NM_024675.4(PALB2):c.2120del (p.Pro707fs)	PALB2	Pathogenic	16	23641355	23641355	AG	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA288431
Deletion	NM_024675.4(PALB2):c.2390_2396del (p.Gln797fs)	PALB2	Pathogenic	16	23641079	23641085	GGTAGGTT	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA288447
Duplication	NM_024675.4(PALB2):c.3456dup (p.Pro1153fs)	PALB2	Pathogenic	16	23614884	23614885	G	GT	criteria provided, multiple submitters, no conflicts	ClinGen:CA288484
single nucleotide variant	NM_024675.4(PALB2):c.3549C>A (p.Tyr1183Ter)	PALB2	Pathogenic	16	23614792	23614792	G	T	reviewed by expert panel	ClinGen:CA288488
Deletion	NM_024675.4(PALB2):c.2006del (p.Glu669fs)	PALB2	Pathogenic	16	23641469	23641469	CT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA161342
Deletion	NM_024675.4(PALB2):c.2167_2168del (p.Met723fs)	PALB2	Pathogenic	16	23641307	23641308	CAT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA164353
single nucleotide variant	NM_024675.4(PALB2):c.2712G>A (p.Trp904Ter)	PALB2	Pathogenic	16	23637593	23637593	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA164329

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