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
single nucleotide variant	NM_000051.4(ATM):c.3994-2A>G	ATM	Likely pathogenic	11	108158325	108158325	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA167657
single nucleotide variant	NM_000051.4(ATM):c.2548G>T (p.Glu850Ter)	ATM	Pathogenic	11	108137979	108137979	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA167666
single nucleotide variant	NM_000051.4(ATM):c.9022C>T (p.Arg3008Cys)	ATM	Pathogenic/Likely pathogenic	11	108236086	108236086	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA294307,UniProtKB:Q13315#VAR_010893
single nucleotide variant	NM_000051.4(ATM):c.4370T>G (p.Leu1457Ter)	ATM	Pathogenic/Likely pathogenic	11	108160462	108160462	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA167716
single nucleotide variant	NM_007194.4(CHEK2):c.319+2T>A	CHEK2	Pathogenic/Likely pathogenic	22	29130389	29130389	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA294375
single nucleotide variant	NM_000051.4(ATM):c.1110C>G (p.Tyr370Ter)	ATM	Pathogenic	11	108119704	108119704	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA168151
single nucleotide variant	NM_000051.4(ATM):c.6976-2A>C	ATM	Pathogenic/Likely pathogenic	11	108198370	108198370	A	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA294376
single nucleotide variant	NM_007194.4(CHEK2):c.499G>A (p.Gly167Arg)	CHEK2	Likely pathogenic	22	29121058	29121058	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA294427,UniProtKB:O96017#VAR_019109
Duplication	NM_000051.4(ATM):c.8206_8207dup (p.Asn2736fs)	ATM	Pathogenic	11	108206625	108206626	T	TAA	criteria provided, multiple submitters, no conflicts	ClinGen:CA168643
Insertion	NM_000051.4(ATM):c.6403_6404insCT (p.Leu2135fs)	ATM	Pathogenic	11	108190736	108190737	C	CCT	criteria provided, single submitter	ClinGen:CA168731