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	NC_000022.10:g.(?_29105988)_(29106053_?)del	CHEK2	Likely pathogenic	22	29105988	29106053	na	na	criteria provided, single submitter	-
Deletion	NC_000022.10:g.(?_29130385)_(29130715_?)del	CHEK2	Pathogenic	22	29130385	29130715	na	na	criteria provided, single submitter	-
Deletion	NM_007194.4(CHEK2):c.1547del (p.Ser516fs)	CHEK2	Likely pathogenic	22	29083970	29083970	AG	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA658656809
Deletion	NM_007194.4(CHEK2):c.1259+2del	CHEK2	Likely pathogenic	22	29091696	29091696	TA	T	criteria provided, single submitter	ClinGen:CA658656824
Deletion	NM_007194.4(CHEK2):c.870del (p.Phe292fs)	CHEK2	Pathogenic	22	29099531	29099531	AG	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA658656848
Deletion	NM_007194.4(CHEK2):c.366del (p.Glu122fs)	CHEK2	Pathogenic	22	29121309	29121309	AT	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA658656837
single nucleotide variant	NM_007194.4(CHEK2):c.247C>T (p.Gln83Ter)	CHEK2	Pathogenic	22	29130463	29130463	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA411090590
Deletion	NM_007194.4(CHEK2):c.109_119del (p.Gly37fs)	CHEK2	Pathogenic	22	29130591	29130601	GCTGGATATGCC	G	criteria provided, single submitter	ClinGen:CA658656856
Deletion	NC_000022.11:g.(?_28687891)_(28689221_?)del	CHEK2	Likely pathogenic	22	29083879	29085209	na	na	criteria provided, single submitter	-
Deletion	NM_007194.4(CHEK2):c.1298_1299del (p.Gln433fs)	CHEK2	Pathogenic	22	29091191	29091192	CTT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA658656822