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.1126G>T (p.Glu376Ter)	ATM	Pathogenic	11	108119720	108119720	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA382532436
Deletion	NM_000051.4(ATM):c.7186del (p.Thr2396fs)	ATM	Pathogenic	11	108199844	108199844	TA	T	criteria provided, single submitter	ClinGen:CA658797767
Deletion	NM_000051.4(ATM):c.7671_7674del (p.Phe2558fs)	ATM	Pathogenic	11	108202644	108202647	CTTTG	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA658797736
single nucleotide variant	NM_000051.4(ATM):c.1501C>T (p.Gln501Ter)	ATM	Pathogenic	11	108121693	108121693	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA382534233
Deletion	NM_000051.4(ATM):c.2289_2295del (p.Phe763fs)	ATM	Pathogenic	11	108128245	108128251	TTTAAAAA	T	criteria provided, single submitter	ClinGen:CA658797779
single nucleotide variant	NM_000051.4(ATM):c.2341C>T (p.Gln781Ter)	ATM	Pathogenic	11	108128298	108128298	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA382540161
Deletion	NM_000051.4(ATM):c.3044_3045del (p.Gln1015fs)	ATM	Pathogenic	11	108142100	108142101	CAA	C	criteria provided, single submitter	ClinGen:CA658797790
Deletion	NM_000051.4(ATM):c.9073del (p.Val3025fs)	ATM	Pathogenic	11	108236137	108236137	TG	T	criteria provided, single submitter	ClinGen:CA658797746
single nucleotide variant	NM_000051.4(ATM):c.4415T>A (p.Leu1472Ter)	ATM	Pathogenic	11	108160507	108160507	T	A	criteria provided, single submitter	ClinGen:CA382532250
Duplication	NM_000051.4(ATM):c.5184dup (p.Val1729fs)	ATM	Pathogenic/Likely pathogenic	11	108172378	108172379	C	CA	criteria provided, multiple submitters, no conflicts	ClinGen:CA658797744