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.2630G>A (p.Trp877Ter)	PALB2	Pathogenic	16	23637675	23637675	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10579959
Indel	NM_024675.4(PALB2):c.2482_2504delinsAAGGTACAAT (p.Cys828fs)	PALB2	Pathogenic	16	23640971	23640993	GAATGTTTATGCAGCTCCTGGCA	ATTGTACCTT	criteria provided, single submitter	ClinGen:CA10579965
Deletion	NM_024675.4(PALB2):c.2488del (p.Glu830fs)	PALB2	Pathogenic	16	23640987	23640987	TC	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10579966
Deletion	NM_024675.4(PALB2):c.2470del (p.Cys824fs)	PALB2	Pathogenic	16	23641005	23641005	CA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10579969
Duplication	NM_024675.4(PALB2):c.2325dup (p.Phe776fs)	PALB2	Pathogenic	16	23641149	23641150	A	AT	criteria provided, multiple submitters, no conflicts	ClinGen:CA10579974
Deletion	NM_024675.4(PALB2):c.2296_2297del (p.Val767fs)	PALB2	Pathogenic	16	23641178	23641179	TGA	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10579975
Deletion	NM_024675.4(PALB2):c.2288_2291del (p.His762_Leu763insTer)	PALB2	Pathogenic/Likely pathogenic	16	23641184	23641187	TTTCA	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10579976
Deletion	NM_024675.4(PALB2):c.2280del (p.Ala761fs)	PALB2	Pathogenic	16	23641195	23641195	CA	C	criteria provided, single submitter	ClinGen:CA10579977
Deletion	NM_024675.4(PALB2):c.2156del (p.Pro719fs)	PALB2	Pathogenic/Likely pathogenic	16	23641319	23641319	AG	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10579983
Insertion	NM_024675.4(PALB2):c.2142_2143insTAA (p.Asp715Ter)	PALB2	Pathogenic	16	23641332	23641333	C	CTTA	criteria provided, single submitter	ClinGen:CA10579984

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