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.1031del (p.Asn344fs)	PALB2	Pathogenic	16	23646836	23646836	GT	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA621661750
Deletion	NM_024675.4(PALB2):c.901_907del (p.Asp301fs)	PALB2	Pathogenic/Likely pathogenic	16	23646960	23646966	AGGTTATC	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA658658436
single nucleotide variant	NM_024675.4(PALB2):c.682C>T (p.Gln228Ter)	PALB2	Pathogenic	16	23647185	23647185	G	A	reviewed by expert panel	ClinGen:CA395136420
Deletion	NM_024675.4(PALB2):c.639del (p.Thr214fs)	PALB2	Pathogenic	16	23647228	23647228	TA	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA658658441
Duplication	NM_024675.4(PALB2):c.3246dup (p.Glu1083Ter)	PALB2	Pathogenic	16	23619288	23619289	C	CA	criteria provided, single submitter	ClinGen:CA658658456
single nucleotide variant	NM_024675.4(PALB2):c.3130C>T (p.Gln1044Ter)	PALB2	Pathogenic/Likely pathogenic	16	23625396	23625396	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA395141418
Deletion	NM_024675.4(PALB2):c.2962_2963del (p.Gln988fs)	PALB2	Pathogenic	16	23634323	23634324	TTG	T	criteria provided, single submitter	ClinGen:CA658658395
Deletion	NM_024675.4(PALB2):c.2938del (p.Ser980fs)	PALB2	Pathogenic	16	23634348	23634348	CT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA658658396
single nucleotide variant	NM_024675.4(PALB2):c.2834+1G>C	PALB2	Pathogenic/Likely pathogenic	16	23635329	23635329	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA395144749
Deletion	NM_024675.4(PALB2):c.2719del (p.Glu907fs)	PALB2	Pathogenic	16	23637586	23637586	TC	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA658658403

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