遺伝性乳がん (ATM/CHEK2)

腫瘍性疾患

表のタイトル行が青色の項目は、クリックすることでソートすることができます。

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_007194.4(CHEK2):c.592+1G>A	CHEK2	Pathogenic/Likely pathogenic	22	29120964	29120964	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000051.4(ATM):c.6573-9G>A	ATM	Pathogenic/Likely pathogenic	11	108196028	108196028	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000051.4(ATM):c.1899-1G>T	ATM	Pathogenic/Likely pathogenic	11	108124540	108124540	G	T	criteria provided, multiple submitters, no conflicts	-
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.72+2T>C	ATM	Pathogenic/Likely pathogenic	11	108098425	108098425	T	C	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000051.4(ATM):c.3952del (p.Val1318fs)	ATM	Pathogenic/Likely pathogenic	11	108155158	108155158	AG	A	criteria provided, multiple submitters, no conflicts	-
Insertion	NM_007194.4(CHEK2):c.1279_1280insC (p.Phe427fs)	CHEK2	Pathogenic/Likely pathogenic	22	29091210	29091211	A	AG	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_000051.4(ATM):c.2192dup (p.Tyr731Ter)	ATM	Pathogenic/Likely pathogenic	11	108127008	108127009	T	TA	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	-
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	-