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.2818del (p.Glu940fs)	PALB2	Pathogenic	16	23635346	23635346	TC	T	criteria provided, single submitter	ClinGen:CA658658402
Deletion	NM_024675.4(PALB2):c.1704_1707del (p.Lys569fs)	PALB2	Pathogenic	16	23641768	23641771	CTTTT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA658658418
Deletion	NM_024675.4(PALB2):c.1565del (p.Pro522fs)	PALB2	Pathogenic/Likely pathogenic	16	23646302	23646302	TG	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA645583278
Deletion	NM_024675.4(PALB2):c.1490del (p.Asn497fs)	PALB2	Pathogenic/Likely pathogenic	16	23646377	23646377	AT	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA658658421
Duplication	NM_024675.4(PALB2):c.442_457dup (p.Arg153fs)	PALB2	Pathogenic	16	23647409	23647410	C	CTCTTCTGCTGCTTCTT	criteria provided, multiple submitters, no conflicts	ClinGen:CA658658445
Deletion	NM_024675.4(PALB2):c.2915del (p.Leu972fs)	PALB2	Pathogenic	16	23634371	23634371	CA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA658658397
single nucleotide variant	NM_024675.4(PALB2):c.1702C>T (p.Gln568Ter)	PALB2	Pathogenic	16	23641773	23641773	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA395128442
Duplication	NM_024675.4(PALB2):c.801_802dup (p.Lys268fs)	PALB2	Pathogenic/Likely pathogenic	16	23647064	23647065	T	TTA	criteria provided, multiple submitters, no conflicts	ClinGen:CA658658440
Deletion	NM_024675.4(PALB2):c.514_517del (p.Ser172fs)	PALB2	Pathogenic	16	23647350	23647353	CCAGA	C	reviewed by expert panel	ClinGen:CA658658444
single nucleotide variant	NM_024675.4(PALB2):c.3165C>G (p.Tyr1055Ter)	PALB2	Pathogenic	16	23625361	23625361	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA395141266

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