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.2467-2A>G	ATM	Likely pathogenic	11	108137896	108137896	A	G	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000051.4(ATM):c.3402+1G>C	ATM	Likely pathogenic	11	108150336	108150336	G	C	criteria provided, single submitter	-
Deletion	NM_000051.4(ATM):c.4611+1del	ATM	Likely pathogenic	11	108163520	108163520	AG	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000051.4(ATM):c.4612-3_4616del	ATM	Pathogenic/Likely pathogenic	11	108164033	108164040	ATATTTAGG	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000051.4(ATM):c.8269-1G>C	ATM	Pathogenic/Likely pathogenic	11	108213948	108213948	G	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000051.4(ATM):c.901+2T>C	ATM	Pathogenic/Likely pathogenic	11	108115755	108115755	T	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000051.4(ATM):c.5674+1G>T	ATM	Pathogenic/Likely pathogenic	11	108175580	108175580	G	T	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_001330368.2(C11orf65):c.641-6771_641-6749dup	ATM	Pathogenic	11	108186546	108186547	T	TCAGGATCTTCTCTTAGAAATCTA	criteria provided, single submitter	-
single nucleotide variant	NM_007194.4(CHEK2):c.445-1G>A	CHEK2	Likely pathogenic	22	29121113	29121113	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_007194.4(CHEK2):c.445-2A>G	CHEK2	Likely pathogenic	22	29121114	29121114	T	C	criteria provided, multiple submitters, no conflicts	-