遺伝性乳がん (ATM/CHEK2)

腫瘍性疾患

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
Indel	NM_000051.4(ATM):c.3349_3355delinsTAAACAT (p.Gln1117_Ala1119delinsTer)	ATM	Pathogenic	11	108150282	108150288	CAAACAG	TAAACAT	criteria provided, multiple submitters, no conflicts	ClinGen:CA16619160
Deletion	NM_000051.4(ATM):c.3631del (p.Ala1211fs)	ATM	Likely pathogenic	11	108153490	108153490	TG	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16619162
Duplication	NM_000051.4(ATM):c.3764dup (p.Leu1255fs)	ATM	Pathogenic/Likely pathogenic	11	108154967	108154968	G	GT	criteria provided, multiple submitters, no conflicts	ClinGen:CA16619167
Indel	NM_000051.4(ATM):c.4332_4337delinsTAAAA (p.Phe1445fs)	ATM	Likely pathogenic	11	108160424	108160429	GTTTGT	TAAAA	criteria provided, single submitter	ClinGen:CA16619177
Deletion	NM_000051.4(ATM):c.4632_4635del (p.Lys1543_Tyr1544insTer)	ATM	Pathogenic	11	108164058	108164061	ATACT	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16619187
Deletion	NM_000051.4(ATM):c.4661del (p.Asn1554fs)	ATM	Pathogenic	11	108164086	108164086	GA	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16619188
Deletion	NM_000051.4(ATM):c.4776+2_4776+13del	ATM	Pathogenic/Likely pathogenic	11	108164206	108164217	GTAATAAAAATTT	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA6265537
single nucleotide variant	NM_000051.4(ATM):c.5496+1G>T	ATM	Pathogenic	11	108173757	108173757	G	T	criteria provided, single submitter	ClinGen:CA16619198
Duplication	NM_000051.4(ATM):c.5653dup (p.Thr1885fs)	ATM	Pathogenic	11	108175556	108175557	C	CA	criteria provided, multiple submitters, no conflicts	ClinGen:CA157134
single nucleotide variant	NM_000051.4(ATM):c.5697C>A (p.Cys1899Ter)	ATM	Pathogenic	11	108178646	108178646	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA6265759