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_007194.4(CHEK2):c.1259+1G>A	CHEK2	Likely pathogenic	22	29091697	29091697	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA411096478
Deletion	NC_000011.10:g.(?_108227619)_(108227894_?)del	ATM	Pathogenic	11	108098346	108098621	na	na	criteria provided, single submitter	-
Deletion	NM_000051.4(ATM):c.1124del (p.Arg375fs)	ATM	Pathogenic	11	108119718	108119718	AG	A	criteria provided, single submitter	ClinGen:CA658797784
Deletion	NC_000011.10:g.(?_108335912)_(108340340_?)del	ATM	Pathogenic	11	108206639	108211067	na	na	criteria provided, single submitter	-
Indel	NM_000051.4(ATM):c.901+2delinsAA	ATM	Pathogenic	11	108115755	108115755	T	AA	criteria provided, single submitter	ClinGen:CA658797778
Deletion	NM_000051.4(ATM):c.5209_5210del (p.Leu1737fs)	ATM	Pathogenic/Likely pathogenic	11	108172405	108172406	GTT	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA658797745
single nucleotide variant	NM_000051.4(ATM):c.6115G>T (p.Glu2039Ter)	ATM	Pathogenic	11	108186757	108186757	G	T	criteria provided, single submitter	ClinGen:CA382550391
Deletion	NM_000051.4(ATM):c.6585_6586del (p.His2195fs)	ATM	Pathogenic/Likely pathogenic	11	108196048	108196049	CAT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA658797752
single nucleotide variant	NM_000051.4(ATM):c.6843C>G (p.Tyr2281Ter)	ATM	Pathogenic	11	108196820	108196820	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA382556650
single nucleotide variant	NM_000051.4(ATM):c.4202T>A (p.Leu1401Ter)	ATM	Pathogenic	11	108159796	108159796	T	A	criteria provided, single submitter	ClinGen:CA382530357