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.655_656del (p.Asp219fs)	PALB2	Pathogenic	16	23647211	23647212	GTC	G	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_024675.4(PALB2):c.73A>T (p.Lys25Ter)	PALB2	Pathogenic	16	23649426	23649426	T	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_024675.4(PALB2):c.3201+5G>T	PALB2	Likely pathogenic	16	23625320	23625320	C	A	criteria provided, single submitter	-
Insertion	NM_024675.4(PALB2):c.3297_3298insT (p.Thr1100fs)	PALB2	Pathogenic/Likely pathogenic	16	23619237	23619238	T	TA	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_024675.4(PALB2):c.2759T>G (p.Leu920Ter)	PALB2	Pathogenic/Likely pathogenic	16	23635405	23635405	A	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_024675.4(PALB2):c.2012T>G (p.Leu671Ter)	PALB2	Pathogenic/Likely pathogenic	16	23641463	23641463	A	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_024675.4(PALB2):c.761C>G (p.Ser254Ter)	PALB2	Pathogenic/Likely pathogenic	16	23647106	23647106	G	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_024675.4(PALB2):c.3477G>A (p.Trp1159Ter)	PALB2	Pathogenic	16	23614864	23614864	C	T	criteria provided, single submitter	-
Deletion	NM_024675.4(PALB2):c.3455del (p.Pro1152fs)	PALB2	Pathogenic	16	23614886	23614886	TG	T	criteria provided, single submitter	-
Duplication	NM_024675.4(PALB2):c.3062_3063dup (p.Met1022fs)	PALB2	Pathogenic	16	23632732	23632733	T	TCC	criteria provided, multiple submitters, no conflicts	-

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