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_000051.4(ATM):c.1329del (p.Gln445fs)	ATM	Pathogenic	11	108121521	108121521	TA	T	criteria provided, single submitter	ClinGen:CA169850
Deletion	NM_000051.4(ATM):c.9047_9057del (p.Lys3016fs)	ATM	Pathogenic/Likely pathogenic	11	108236109	108236119	AGAAACTGAAAG	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA169859
Deletion	NM_000051.4(ATM):c.4359_4363del (p.Ile1453fs)	ATM	Pathogenic	11	108160451	108160455	TAAAAA	T	criteria provided, single submitter	ClinGen:CA169923
single nucleotide variant	NM_000051.4(ATM):c.1A>G (p.Met1Val)	ATM	Pathogenic/Likely pathogenic	11	108098352	108098352	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA298204
single nucleotide variant	NM_000051.4(ATM):c.154G>T (p.Gly52Ter)	ATM	Pathogenic	11	108098584	108098584	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA298216
Deletion	NM_000051.4(ATM):c.237del (p.Lys79fs)	ATM	Pathogenic/Likely pathogenic	11	108099953	108099953	CA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA298017
Deletion	NM_000051.4(ATM):c.368del (p.Tyr123fs)	ATM	Pathogenic	11	108106433	108106433	TA	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA298010
single nucleotide variant	NM_000051.4(ATM):c.538C>T (p.Gln180Ter)	ATM	Pathogenic	11	108114721	108114721	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA298114
Deletion	NM_000051.4(ATM):c.549_550del (p.His183fs)	ATM	Pathogenic	11	108114731	108114732	CAT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA298011
single nucleotide variant	NM_000051.4(ATM):c.742C>T (p.Arg248Ter)	ATM	Pathogenic/Likely pathogenic	11	108115594	108115594	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA298123