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.4777-1G>A	ATM	Likely pathogenic	11	108165653	108165653	G	A	criteria provided, single submitter	-
single nucleotide variant	NM_000051.4(ATM):c.6976-1G>T	ATM	Pathogenic/Likely pathogenic	11	108198371	108198371	G	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000051.4(ATM):c.8010+2T>C	ATM	Likely pathogenic	11	108204697	108204697	T	C	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000051.4(ATM):c.8416_8418+5del	ATM	Likely pathogenic	11	108214095	108214102	TGATGGTGA	T	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000051.4(ATM):c.1066-3_1072del	ATM	Likely pathogenic	11	108119652	108119661	ATTTTACAGGT	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000051.4(ATM):c.3285-2A>G	ATM	Pathogenic	11	108150216	108150216	A	G	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000051.4(ATM):c.5496+2T>G	ATM	Likely pathogenic	11	108173758	108173758	T	G	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000051.4(ATM):c.6453-1G>A	ATM	Likely pathogenic	11	108192027	108192027	G	A	criteria provided, single submitter	-
single nucleotide variant	NM_000051.4(ATM):c.6976-1G>A	ATM	Pathogenic	11	108198371	108198371	G	A	criteria provided, single submitter	-
Deletion	NM_000051.4(ATM):c.8781_8786+2del	ATM	Pathogenic	11	108224601	108224608	TTCAGAAGG	T	criteria provided, single submitter	-