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.76del (p.Arg26fs)	PALB2	Pathogenic/Likely pathogenic	16	23649423	23649423	CT	C	criteria provided, multiple submitters, no conflicts	-
Deletion	NC_000016.10:g.(?_23621352)_(23636344_?)del	PALB2	Pathogenic	16	23632673	23647665	na	na	criteria provided, single submitter	-
Deletion	NC_000016.10:g.(?_23634852)_(23638139_?)del	PALB2	Pathogenic	16	23646173	23649460	na	na	criteria provided, single submitter	-
Deletion	NC_000016.10:g.(?_23637840)_(23641167_?)del	PALB2	Pathogenic	16	23649161	23652488	na	na	criteria provided, single submitter	-
Deletion	NM_001407299.1(PALB2):c.3113+7271del	PALB2	Pathogenic	16	23625412	23625412	TC	T	criteria provided, single submitter	-
Deletion	NC_000016.10:g.(?_23613994)_(23624104_?)del	PALB2	Likely pathogenic	16	23625315	23635425	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_024675.4(PALB2):c.3113+5G>A	PALB2	Likely pathogenic	16	23632678	23632678	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_024675.4(PALB2):c.211+1G>T	PALB2	Pathogenic/Likely pathogenic	16	23649170	23649170	C	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NC_000016.10:g.(?_23603449)_(23614101_?)del	PALB2	Pathogenic	16	23614770	23625422	na	na	criteria provided, single submitter	-
Deletion	NC_000016.10:g.(?_23634852)_(23641167_?)del	PALB2	Pathogenic	16	23646173	23652488	na	na	criteria provided, single submitter	-

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