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.1684+1G>T	PALB2	Likely pathogenic	16	23646182	23646182	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA395129863
single nucleotide variant	NM_024675.4(PALB2):c.2632G>T (p.Glu878Ter)	PALB2	Pathogenic	16	23637673	23637673	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA395122165
single nucleotide variant	NM_024675.4(PALB2):c.1684+1G>A	PALB2	Pathogenic	16	23646182	23646182	C	T	reviewed by expert panel	ClinGen:CA395129867
Deletion	NM_024675.4(PALB2):c.1677del (p.Gln559_Val560insTer)	PALB2	Pathogenic	16	23646190	23646190	CT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA658658419
Deletion	NM_024675.4(PALB2):c.1429del (p.Thr477fs)	PALB2	Pathogenic	16	23646438	23646438	GT	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA658658424
single nucleotide variant	NM_024675.4(PALB2):c.1327A>T (p.Lys443Ter)	PALB2	Pathogenic	16	23646540	23646540	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA395132293
Deletion	NM_024675.4(PALB2):c.2194_2200del (p.Gly732fs)	PALB2	Pathogenic	16	23641275	23641281	GTAGTACC	G	criteria provided, single submitter	ClinGen:CA658658407
Deletion	NM_024675.4(PALB2):c.2175_2176del (p.Pro726fs)	PALB2	Pathogenic	16	23641299	23641300	GGT	G	criteria provided, single submitter	ClinGen:CA658658408
Indel	NM_024675.4(PALB2):c.1059_1077delinsGG (p.Ser354fs)	PALB2	Pathogenic	16	23646790	23646808	ACTGGGAGATTTTAAAGAT	CC	criteria provided, single submitter	ClinGen:CA658658430
single nucleotide variant	NM_024675.4(PALB2):c.1675C>T (p.Gln559Ter)	PALB2	Pathogenic	16	23646192	23646192	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA395129920

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