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.688G>T (p.Glu230Ter)	PALB2	Pathogenic	16	23647179	23647179	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA299784
single nucleotide variant	NM_024675.4(PALB2):c.212-2A>G	PALB2	Pathogenic/Likely pathogenic	16	23647657	23647657	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA299700
single nucleotide variant	NM_024675.4(PALB2):c.109-2A>G	PALB2	Likely pathogenic	16	23649275	23649275	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA299762
single nucleotide variant	NM_024675.4(PALB2):c.43G>T (p.Glu15Ter)	PALB2	Pathogenic	16	23652436	23652436	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA299713
Duplication	NM_024675.4(PALB2):c.3228_3244dup (p.Ser1082fs)	PALB2	Pathogenic	16	23619290	23619291	C	CTCTCTTTGGCACAGGGA	criteria provided, single submitter	ClinGen:CA191362
Deletion	NM_024675.4(PALB2):c.3004_3007del (p.Glu1002fs)	PALB2	Pathogenic/Likely pathogenic	16	23632789	23632792	TTTTC	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA196785
single nucleotide variant	NM_024675.4(PALB2):c.2986G>T (p.Glu996Ter)	PALB2	Pathogenic/Likely pathogenic	16	23634300	23634300	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA197777
Deletion	NM_024675.4(PALB2):c.2747_2748+4del	PALB2	Pathogenic/Likely pathogenic	16	23637553	23637558	CTTACCT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA198185
single nucleotide variant	NM_024675.4(PALB2):c.2748+1G>T	PALB2	Pathogenic/Likely pathogenic	16	23637556	23637556	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA193676
Indel	NM_024675.4(PALB2):c.2524_2535delinsTCAGA (p.Ala842fs)	PALB2	Pathogenic	16	23640576	23640587	AGGAAGCTCTGC	TCTGA	reviewed by expert panel	ClinGen:CA196418

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