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
Deletion	NM_000051.4(ATM):c.4227del (p.Ser1411fs)	ATM	Pathogenic/Likely pathogenic	11	108159820	108159820	TC	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA166590
single nucleotide variant	NM_007194.4(CHEK2):c.279G>A (p.Trp93Ter)	CHEK2	Pathogenic/Likely pathogenic	22	29130431	29130431	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA166650
Deletion	NM_000051.4(ATM):c.1158del (p.Lys387fs)	ATM	Pathogenic	11	108119751	108119751	AG	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA166706
single nucleotide variant	NM_000051.4(ATM):c.3077G>A (p.Trp1026Ter)	ATM	Pathogenic	11	108142133	108142133	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA166759
single nucleotide variant	NM_000051.4(ATM):c.6326G>A (p.Trp2109Ter)	ATM	Pathogenic	11	108188227	108188227	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA166794
single nucleotide variant	NM_000051.4(ATM):c.1898+2T>G	ATM	Pathogenic/Likely pathogenic	11	108123641	108123641	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA166848
single nucleotide variant	NM_000051.4(ATM):c.3980T>G (p.Leu1327Ter)	ATM	Pathogenic	11	108155187	108155187	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA167215
Deletion	NM_000051.4(ATM):c.5910del (p.Glu1971fs)	ATM	Pathogenic/Likely pathogenic	11	108181033	108181033	CA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA167261
single nucleotide variant	NM_000051.4(ATM):c.2921+1G>T	ATM	Pathogenic/Likely pathogenic	11	108141874	108141874	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA167275
Deletion	NM_007194.4(CHEK2):c.591del (p.Val198fs)	CHEK2	Pathogenic/Likely pathogenic	22	29120966	29120966	CT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA294259