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
Duplication	NM_000051.4(ATM):c.7510dup (p.Met2504fs)	ATM	Pathogenic	11	108201142	108201143	G	GA	criteria provided, single submitter	-
Indel	NM_000051.4(ATM):c.7549_7562delinsATG (p.Leu2517fs)	ATM	Pathogenic	11	108202204	108202217	TTGCCTCTTATGTA	ATG	criteria provided, single submitter	-
Deletion	NM_000051.4(ATM):c.7631del (p.Leu2544fs)	ATM	Pathogenic	11	108202607	108202607	CT	C	criteria provided, single submitter	-
Duplication	NM_000051.4(ATM):c.7764dup (p.Lys2589Ter)	ATM	Pathogenic	11	108202739	108202740	C	CT	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000051.4(ATM):c.7792del (p.Arg2598fs)	ATM	Pathogenic	11	108203492	108203492	TC	T	criteria provided, single submitter	-
single nucleotide variant	NM_000051.4(ATM):c.7889T>A (p.Leu2630Ter)	ATM	Pathogenic	11	108203589	108203589	T	A	criteria provided, single submitter	-
Deletion	NM_000051.4(ATM):c.7978del (p.Glu2660fs)	ATM	Pathogenic	11	108204663	108204663	AG	A	criteria provided, single submitter	-
Deletion	NM_000051.4(ATM):c.8127del (p.Lys2710fs)	ATM	Pathogenic	11	108205812	108205812	GC	G	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000051.4(ATM):c.8189A>C (p.Gln2730Pro)	ATM	Likely pathogenic	11	108206609	108206609	A	C	criteria provided, single submitter	-
single nucleotide variant	NM_000051.4(ATM):c.8373C>G (p.Tyr2791Ter)	ATM	Pathogenic	11	108214053	108214053	C	G	criteria provided, multiple submitters, no conflicts	-

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