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.2902G>T (p.Glu968Ter)	ATM	Pathogenic	11	108141854	108141854	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA382546939
single nucleotide variant	NM_000051.4(ATM):c.8050C>T (p.Gln2684Ter)	ATM	Pathogenic	11	108205735	108205735	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA382561922
Duplication	NM_000051.4(ATM):c.7599_7600dup (p.Gly2534fs)	ATM	Pathogenic	11	108202252	108202253	G	GGA	criteria provided, single submitter	ClinGen:CA658656294
Deletion	NM_000051.4(ATM):c.4844del (p.Lys1615fs)	ATM	Pathogenic	11	108165719	108165719	TA	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA658656201
Deletion	NM_000051.4(ATM):c.8328_8329del (p.Ile2776fs)	ATM	Pathogenic	11	108214008	108214009	TTG	T	criteria provided, single submitter	ClinGen:CA658656242
single nucleotide variant	NM_000051.4(ATM):c.8418+5G>A	ATM	Pathogenic/Likely pathogenic	11	108214103	108214103	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA601698826
single nucleotide variant	NM_000051.4(ATM):c.7921C>T (p.Gln2641Ter)	ATM	Pathogenic/Likely pathogenic	11	108203621	108203621	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA6266213
single nucleotide variant	NM_000051.4(ATM):c.3025G>T (p.Glu1009Ter)	ATM	Pathogenic	11	108142081	108142081	G	T	criteria provided, single submitter	ClinGen:CA382547503
single nucleotide variant	NM_000051.4(ATM):c.5065C>T (p.Gln1689Ter)	ATM	Pathogenic	11	108170500	108170500	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA382540526
single nucleotide variant	NM_000051.4(ATM):c.8850+2T>C	ATM	Likely pathogenic	11	108225603	108225603	T	C	criteria provided, single submitter	ClinGen:CA382526141