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
Duplication	NM_007194.4(CHEK2):c.735_742dup (p.Ile248delinsLysTer)	CHEK2	Likely pathogenic	22	29107946	29107947	A	ATGGCTACT	criteria provided, single submitter	-
Duplication	NM_007194.4(CHEK2):c.432dup (p.Arg145fs)	CHEK2	Pathogenic/Likely pathogenic	22	29121242	29121243	G	GA	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_007194.4(CHEK2):c.422del (p.Lys141fs)	CHEK2	Likely pathogenic	22	29121253	29121253	CT	C	criteria provided, single submitter	-
single nucleotide variant	NM_000051.4(ATM):c.1065+1G>C	ATM	Likely pathogenic	11	108117855	108117855	G	C	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000051.4(ATM):c.3602_3603del (p.Phe1201fs)	ATM	Pathogenic	11	108153460	108153461	CTT	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000051.4(ATM):c.4148C>A (p.Ser1383Ter)	ATM	Pathogenic/Likely pathogenic	11	108159742	108159742	C	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000051.4(ATM):c.4612-2A>C	ATM	Likely pathogenic	11	108164038	108164038	A	C	criteria provided, single submitter	-
single nucleotide variant	NM_000051.4(ATM):c.4612-1G>A	ATM	Likely pathogenic	11	108164039	108164039	G	A	criteria provided, single submitter	-
Deletion	NM_000051.4(ATM):c.7796del (p.Thr2599fs)	ATM	Likely pathogenic	11	108203496	108203496	AC	A	criteria provided, single submitter	-
single nucleotide variant	NM_000051.4(ATM):c.8585-2A>G	ATM	Likely pathogenic	11	108218004	108218004	A	G	criteria provided, multiple submitters, no conflicts	-