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.7708G>T (p.Glu2570Ter)	ATM	Pathogenic/Likely pathogenic	11	108202684	108202684	G	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_007194.4(CHEK2):c.341G>A (p.Trp114Ter)	CHEK2	Pathogenic	22	29121334	29121334	C	T	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_007194.4(CHEK2):c.1128del (p.Glu377fs)	CHEK2	Pathogenic	22	29091829	29091829	CT	C	criteria provided, single submitter	-
Duplication	NM_000051.4(ATM):c.3146dup (p.Leu1049fs)	ATM	Likely pathogenic	11	108143324	108143325	C	CT	criteria provided, single submitter	-
single nucleotide variant	NM_000051.4(ATM):c.6452+1G>T	ATM	Pathogenic	11	108190786	108190786	G	T	criteria provided, single submitter	-
single nucleotide variant	NM_000051.4(ATM):c.4432C>T (p.Gln1478Ter)	ATM	Pathogenic	11	108160524	108160524	C	T	criteria provided, multiple submitters, no conflicts	-
Deletion	NC_000011.10:g.(?_108246954)_(108247137_?)del	ATM	Pathogenic	11	108117681	108117864	na	na	criteria provided, single submitter	-
Deletion	NC_000011.10:g.(?_108327635)_(108331567_?)del	ATM	Pathogenic	11	108198362	108202294	na	na	criteria provided, single submitter	-
Deletion	NC_000011.10:g.(?_108365072)_(108365518_?)del	ATM	Pathogenic	11	108235799	108236245	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_000051.4(ATM):c.497-1G>C	ATM	Likely pathogenic	11	108114679	108114679	G	C	criteria provided, multiple submitters, no conflicts	-