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
Deletion	NM_007194.4(CHEK2):c.577_578del (p.Leu193fs)	CHEK2	Pathogenic	22	29120979	29120980	TAG	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10167978
Deletion	NM_007194.4(CHEK2):c.433del (p.Arg145fs)	CHEK2	Pathogenic	22	29121242	29121242	CG	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA658656834
single nucleotide variant	NM_007194.4(CHEK2):c.319+1G>C	CHEK2	Likely pathogenic	22	29130390	29130390	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA411090153
Deletion	NC_000022.11:g.(?_28689129)_(28696993_?)del	CHEK2	Likely pathogenic	22	29085117	29092981	na	na	criteria provided, single submitter	-
Deletion	NC_000022.10:g.(?_29115377)_(29115479_?)del	CHEK2	Pathogenic	22	29115377	29115479	na	na	criteria provided, single submitter	-
Deletion	NC_000022.11:g.(?_28725237)_(28725373_?)del	CHEK2	Pathogenic	22	29121225	29121361	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_007194.4(CHEK2):c.1297C>T (p.Gln433Ter)	CHEK2	Pathogenic	22	29091193	29091193	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA411096112
Deletion	NM_007194.4(CHEK2):c.616_617del (p.Val206fs)	CHEK2	Pathogenic/Likely pathogenic	22	29115449	29115450	TAC	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA638800826
single nucleotide variant	NM_000051.4(ATM):c.73-3C>G	ATM	Pathogenic/Likely pathogenic	11	108098500	108098500	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA658656135
single nucleotide variant	NM_000051.4(ATM):c.362T>A (p.Leu121Ter)	ATM	Pathogenic	11	108106427	108106427	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA6264593