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_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
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_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_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.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.499G>A (p.Gly167Arg)	CHEK2	Likely pathogenic	22	29121058	29121058	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA294427,UniProtKB:O96017#VAR_019109
single nucleotide variant	NM_007194.4(CHEK2):c.1462-2A>G	CHEK2	Likely pathogenic	22	29085205	29085205	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA168786
single nucleotide variant	NM_007194.4(CHEK2):c.445-1G>C	CHEK2	Likely pathogenic	22	29121113	29121113	C	G	criteria provided, single submitter	ClinGen:CA169805
single nucleotide variant	NM_000051.4(ATM):c.3848T>C (p.Leu1283Pro)	ATM	Likely pathogenic	11	108155055	108155055	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA298351
single nucleotide variant	NM_000051.4(ATM):c.2849T>G (p.Leu950Arg)	ATM	Likely pathogenic	11	108141801	108141801	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA195209,UniProtKB:Q13315#VAR_010815