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_007194.4(CHEK2):c.278G>A (p.Trp93Ter)	CHEK2	Pathogenic	22	29130432	29130432	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA198177
Deletion	NM_007194.4(CHEK2):c.277del (p.Trp93fs)	CHEK2	Pathogenic	22	29130433	29130433	CA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA196698
single nucleotide variant	NM_007194.4(CHEK2):c.85C>T (p.Gln29Ter)	CHEK2	Pathogenic/Likely pathogenic	22	29130625	29130625	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA198320
single nucleotide variant	NM_000051.4(ATM):c.72+1G>A	ATM	Pathogenic/Likely pathogenic	11	108098424	108098424	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA334106
single nucleotide variant	NM_000051.4(ATM):c.2921+1G>C	ATM	Pathogenic/Likely pathogenic	11	108141874	108141874	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA334038
single nucleotide variant	NM_000051.4(ATM):c.3G>A (p.Met1Ile)	ATM	Pathogenic/Likely pathogenic	11	108098354	108098354	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA274099
Deletion	NM_000051.4(ATM):c.640del (p.Ser214fs)	ATM	Pathogenic/Likely pathogenic	11	108114817	108114817	CT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA274091
single nucleotide variant	NM_000051.4(ATM):c.802C>T (p.Gln268Ter)	ATM	Pathogenic/Likely pathogenic	11	108115654	108115654	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA274188
Deletion	NM_000051.4(ATM):c.1524del (p.Gly509fs)	ATM	Pathogenic/Likely pathogenic	11	108121715	108121715	CT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA274435
single nucleotide variant	NM_000051.4(ATM):c.5188C>T (p.Arg1730Ter)	ATM	Pathogenic/Likely pathogenic	11	108172385	108172385	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA334791

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