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
Deletion	NM_007194.3(CHEK2):c.909delG	CHEK2	Likely pathogenic	22	29095925	29095925	TC	T	criteria provided, single submitter	ClinGen:CA16042190
Deletion	NM_000051.4(ATM):c.689del (p.Asn230fs)	ATM	Pathogenic/Likely pathogenic	11	108115539	108115539	TA	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16043454
single nucleotide variant	NM_000051.4(ATM):c.497-1G>A	ATM	Likely pathogenic	11	108114679	108114679	G	A	criteria provided, single submitter	ClinVar:424841,ClinGen:CA6264624
single nucleotide variant	NM_000051.4(ATM):c.1236-2A>T	ATM	Pathogenic	11	108121426	108121426	A	T	criteria provided, multiple submitters, no conflicts	ClinVar:424841,ClinGen:CA6264792
single nucleotide variant	NM_000051.4(ATM):c.4106C>A (p.Ser1369Ter)	ATM	Pathogenic/Likely pathogenic	11	108158439	108158439	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16606070
single nucleotide variant	NM_000051.4(ATM):c.6096-2A>G	ATM	Pathogenic/Likely pathogenic	11	108186736	108186736	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA501172
single nucleotide variant	NM_000051.4(ATM):c.2115C>G (p.Tyr705Ter)	ATM	Pathogenic/Likely pathogenic	11	108124757	108124757	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16606161
single nucleotide variant	NM_000051.4(ATM):c.901+1G>C	ATM	Pathogenic	11	108115754	108115754	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA16606776
single nucleotide variant	NM_000051.4(ATM):c.8641C>T (p.Gln2881Ter)	ATM	Pathogenic	11	108218062	108218062	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16606855
single nucleotide variant	NM_007194.4(CHEK2):c.823G>T (p.Glu275Ter)	CHEK2	Pathogenic	22	29106017	29106017	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16608149