遺伝性乳がん (ATM/CHEK2)

腫瘍性疾患

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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_007194.4(CHEK2):c.908+1G>A	CHEK2	Likely pathogenic	22	29099492	29099492	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA165257
single nucleotide variant	NM_000051.4(ATM):c.6095+1G>A	ATM	Likely pathogenic	11	108186639	108186639	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA164796
single nucleotide variant	NM_000051.4(ATM):c.7181C>T (p.Ser2394Leu)	ATM	Likely pathogenic	11	108199839	108199839	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA286966
single nucleotide variant	NM_007194.4(CHEK2):c.433C>T (p.Arg145Trp)	CHEK2	Likely pathogenic	22	29121242	29121242	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA117632,UniProtKB:O96017#VAR_008554,OMIM:604373.0003