遺伝性乳がん (ATM/CHEK2) - MGenReviews

遺伝性乳がん (ATM/CHEK2)

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

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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_000051.4(ATM):c.1348G>T (p.Glu450Ter)	ATM	Likely pathogenic	11	108121540	108121540	G	T	criteria provided, single submitter	-
Deletion	NM_000051.4(ATM):c.1367del (p.Leu456fs)	ATM	Pathogenic/Likely pathogenic	11	108121558	108121558	GT	G	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000051.4(ATM):c.2571_2572del (p.Leu857_Phe858insTer)	ATM	Likely pathogenic	11	108138001	108138002	CTA	C	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000051.4(ATM):c.2727del (p.Thr910fs)	ATM	Pathogenic	11	108139225	108139225	CT	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000051.4(ATM):c.3619G>T (p.Glu1207Ter)	ATM	Pathogenic	11	108153479	108153479	G	T	criteria provided, single submitter	-
Deletion	NM_000051.4(ATM):c.3996del (p.Ile1332fs)	ATM	Pathogenic/Likely pathogenic	11	108158328	108158328	AT	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000051.4(ATM):c.5521_5522del (p.Val1841fs)	ATM	Pathogenic/Likely pathogenic	11	108175425	108175426	CTG	C	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000051.4(ATM):c.5534del (p.Tyr1844_Leu1845insTer)	ATM	Likely pathogenic	11	108175438	108175438	CT	C	criteria provided, single submitter	-
Deletion	NM_000051.4(ATM):c.5745del (p.Asp1914_Tyr1915insTer)	ATM	Pathogenic/Likely pathogenic	11	108178694	108178694	AC	A	criteria provided, multiple submitters, no conflicts	-
Indel	NM_000051.4(ATM):c.5980_5986delinsTAAGAAA (p.Lys1994_Glu1996delinsTer)	ATM	Pathogenic	11	108183199	108183205	AAAGAAG	TAAGAAA	criteria provided, single submitter	-

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