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

Excelでダウンロード

1
...
12
13
14
15
16
...
51

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.1163del (p.Pro388fs)	PALB2	Pathogenic	16	23646704	23646704	AG	A	criteria provided, single submitter	ClinGen:CA353502
Duplication	NM_024675.4(PALB2):c.1947_1966dup (p.Pro656fs)	PALB2	Likely pathogenic	16	23641508	23641509	G	GGAAAAATACAGCTTCCCTCT	criteria provided, single submitter	ClinGen:CA10576111
Duplication	NM_024675.4(PALB2):c.693dup (p.Gly232fs)	PALB2	Pathogenic/Likely pathogenic	16	23647173	23647174	C	CT	criteria provided, multiple submitters, no conflicts	ClinGen:CA10576116
Duplication	NM_024675.4(PALB2):c.577dup (p.Thr193fs)	PALB2	Likely pathogenic	16	23647289	23647290	G	GT	criteria provided, single submitter	ClinGen:CA10576117
Deletion	NM_024675.4(PALB2):c.522_523del (p.Arg175fs)	PALB2	Likely pathogenic	16	23647344	23647345	CTT	C	criteria provided, single submitter	ClinGen:CA10576118
Duplication	NM_024675.4(PALB2):c.3473_3476dup (p.Trp1159Ter)	PALB2	Pathogenic	16	23614864	23614865	C	CCAAT	criteria provided, single submitter	ClinGen:CA10579912
Deletion	NM_024675.4(PALB2):c.3396_3405del (p.Thr1133fs)	PALB2	Pathogenic	16	23614936	23614945	TTCCAGAAGTC	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10579916
Deletion	NM_024675.4(PALB2):c.3374_3395del (p.Asp1125fs)	PALB2	Pathogenic/Likely pathogenic	16	23614946	23614967	CAAGATTGCTGCTGCACAGTGAT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10579917
single nucleotide variant	NM_024675.4(PALB2):c.3358G>T (p.Glu1120Ter)	PALB2	Pathogenic	16	23614983	23614983	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10579919
single nucleotide variant	NM_024675.4(PALB2):c.3350G>A (p.Arg1117Lys)	PALB2	Pathogenic	16	23619185	23619185	C	T	reviewed by expert panel	ClinGen:CA10579920

1
...
12
13
14
15
16
...
51