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.49-1G>A	PALB2	Likely pathogenic	16	23649451	23649451	C	T	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_024675.4(PALB2):c.3008del (p.Asn1003fs)	PALB2	Pathogenic	16	23632788	23632788	GT	G	criteria provided, single submitter	-
Indel	NM_024675.4(PALB2):c.2116_2129delinsG (p.Thr706fs)	PALB2	Likely pathogenic	16	23641346	23641359	GTATTTAAAGGAGT	C	criteria provided, single submitter	-
Duplication	NM_024675.4(PALB2):c.1848dup (p.Glu617Ter)	PALB2	Pathogenic	16	23641626	23641627	C	CA	criteria provided, single submitter	-
Duplication	NM_024675.4(PALB2):c.1539dup (p.Gly514fs)	PALB2	Pathogenic	16	23646327	23646328	C	CT	criteria provided, single submitter	-
Deletion	NM_024675.4(PALB2):c.715del (p.Arg239fs)	PALB2	Pathogenic	16	23647152	23647152	CT	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_024675.4(PALB2):c.50T>G (p.Leu17Ter)	PALB2	Pathogenic	16	23649449	23649449	A	C	criteria provided, single submitter	-
Duplication	NM_024675.4(PALB2):c.3164dup (p.Tyr1055Ter)	PALB2	Likely pathogenic	16	23625361	23625362	G	GT	criteria provided, single submitter	-
single nucleotide variant	NM_024675.4(PALB2):c.2192T>G (p.Leu731Ter)	PALB2	Pathogenic/Likely pathogenic	16	23641283	23641283	A	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_024675.4(PALB2):c.1919C>G (p.Ser640Ter)	PALB2	Pathogenic	16	23641556	23641556	G	C	criteria provided, multiple submitters, no conflicts	-

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