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
Duplication	NM_000051.4(ATM):c.5947dup (p.Ser1983fs)	ATM	Likely pathogenic	11	108183165	108183166	G	GA	criteria provided, single submitter	ClinGen:CA228398285
Deletion	NM_000051.4(ATM):c.6435_6436del (p.Leu2147fs)	ATM	Pathogenic	11	108190767	108190768	GAA	G	criteria provided, single submitter	ClinGen:CA10584358
single nucleotide variant	NM_000051.4(ATM):c.6975+2T>C	ATM	Likely pathogenic	11	108196954	108196954	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10584360
single nucleotide variant	NM_000051.4(ATM):c.7449G>A (p.Trp2483Ter)	ATM	Pathogenic	11	108201082	108201082	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA6266108
single nucleotide variant	NM_000051.4(ATM):c.8265T>G (p.Tyr2755Ter)	ATM	Pathogenic	11	108206685	108206685	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10584371
Deletion	NM_000051.4(ATM):c.8292_8293del (p.Ser2764fs)	ATM	Pathogenic/Likely pathogenic	11	108213971	108213972	AGT	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10584372
Duplication	NM_000051.4(ATM):c.9039dup (p.Gln3014fs)	ATM	Pathogenic/Likely pathogenic	11	108236102	108236103	T	TA	criteria provided, multiple submitters, no conflicts	ClinGen:CA10584379
Duplication	NM_000051.3(ATM):c.2467-?_8850+?dup6384	ATM	Likely pathogenic	11	108137898	108225601	na	na	criteria provided, single submitter	-
Deletion	NC_000011.10:g.(?_108365082)_(108365508_?)del	ATM	Pathogenic	11	108235809	108236235	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_000051.4(ATM):c.193C>T (p.Gln65Ter)	ATM	Pathogenic/Likely pathogenic	11	108099912	108099912	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10588487