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.3246_3247del (p.Ser1082fs)	PALB2	Pathogenic	16	23619288	23619289	TCA	T	criteria provided, single submitter	ClinGen:CA10579923
single nucleotide variant	NM_024675.4(PALB2):c.3165C>A (p.Tyr1055Ter)	PALB2	Pathogenic	16	23625361	23625361	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10579929
single nucleotide variant	NM_024675.4(PALB2):c.3114G>A (p.Trp1038Ter)	PALB2	Pathogenic	16	23625412	23625412	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10579930
single nucleotide variant	NM_024675.4(PALB2):c.3113+5G>C	PALB2	Pathogenic/Likely pathogenic	16	23632678	23632678	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10579931
Deletion	NM_024675.4(PALB2):c.3027del (p.Glu1010fs)	PALB2	Pathogenic	16	23632769	23632769	CA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10579938
single nucleotide variant	NM_024675.4(PALB2):c.2968G>T (p.Glu990Ter)	PALB2	Pathogenic	16	23634318	23634318	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10579941
Duplication	NM_024675.4(PALB2):c.2760dup (p.Gln921fs)	PALB2	Pathogenic	16	23635403	23635404	G	GT	criteria provided, single submitter	ClinGen:CA10579952
single nucleotide variant	NM_024675.4(PALB2):c.2693G>A (p.Trp898Ter)	PALB2	Pathogenic	16	23637612	23637612	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10579954
single nucleotide variant	NM_024675.4(PALB2):c.2674G>T (p.Glu892Ter)	PALB2	Pathogenic	16	23637631	23637631	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10579956
Deletion	NM_024675.4(PALB2):c.2635del (p.Arg879fs)	PALB2	Pathogenic	16	23637670	23637670	CT	C	criteria provided, single submitter	ClinGen:CA10579958

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