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.421C>T (p.Gln141Ter)	PALB2	Likely pathogenic	16	23647446	23647446	G	A	criteria provided, single submitter	ClinGen:CA10588614
single nucleotide variant	NM_024675.4(PALB2):c.178C>T (p.Gln60Ter)	PALB2	Pathogenic/Likely pathogenic	16	23649204	23649204	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10588615
Duplication	NM_024675.4(PALB2):c.601dup (p.Ser201fs)	PALB2	Pathogenic/Likely pathogenic	16	23647265	23647266	C	CT	criteria provided, multiple submitters, no conflicts	ClinGen:CA10603259
Deletion	NM_024675.4(PALB2):c.2029del (p.Val677fs)	PALB2	Likely pathogenic	16	23641446	23641446	AC	A	criteria provided, single submitter	ClinGen:CA10603369
Deletion	NM_024675.4(PALB2):c.3425del (p.Leu1142fs)	PALB2	Pathogenic/Likely pathogenic	16	23614916	23614916	TA	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16042144
Deletion	NM_024675.4(PALB2):c.3256del (p.Arg1086fs)	PALB2	Pathogenic/Likely pathogenic	16	23619279	23619279	CG	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA16042146
single nucleotide variant	NM_024675.4(PALB2):c.3202-1G>A	PALB2	Pathogenic/Likely pathogenic	16	23619334	23619334	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16042147
single nucleotide variant	NM_024675.4(PALB2):c.2748+1G>C	PALB2	Pathogenic/Likely pathogenic	16	23637556	23637556	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16042148
single nucleotide variant	NM_024675.4(PALB2):c.2576C>A (p.Ser859Ter)	PALB2	Pathogenic/Likely pathogenic	16	23640535	23640535	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16042149
Deletion	NM_024675.4(PALB2):c.1838del (p.Gln613fs)	PALB2	Pathogenic/Likely pathogenic	16	23641637	23641637	CT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA16042150

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