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.1489del (p.Asp497fs)	CHEK2	Pathogenic/Likely pathogenic	22	29085176	29085176	TC	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA191237
Deletion	NM_007194.4(CHEK2):c.1492_1496del (p.Leu498fs)	CHEK2	Pathogenic/Likely pathogenic	22	29085169	29085173	CAGAAG	C	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_007194.4(CHEK2):c.1501del (p.Glu501fs)	CHEK2	Pathogenic/Likely pathogenic	22	29085164	29085164	TC	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA645369744
Duplication	NM_007194.4(CHEK2):c.1502_1503dup (p.Glu502fs)	CHEK2	Pathogenic/Likely pathogenic	22	29085161	29085162	C	CCT	criteria provided, multiple submitters, no conflicts	ClinGen:CA169372
single nucleotide variant	NM_007194.4(CHEK2):c.1510G>T (p.Glu504Ter)	CHEK2	Pathogenic/Likely pathogenic	22	29085155	29085155	C	A	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_007194.4(CHEK2):c.1522dup (p.Leu508fs)	CHEK2	Pathogenic/Likely pathogenic	22	29085142	29085143	A	AG	criteria provided, multiple submitters, no conflicts	ClinGen:CA658656811
single nucleotide variant	NM_007194.4(CHEK2):c.1528C>T (p.Gln510Ter)	CHEK2	Pathogenic/Likely pathogenic	22	29085137	29085137	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10588716
Deletion	NC_000022.11:g.(?_28687887)_(28687996_?)del	CHEK2	Likely pathogenic	22	29083875	29083984	na	na	criteria provided, single submitter	-
Deletion	NM_007194.4(CHEK2):c.1543-9_1546del	CHEK2	Pathogenic/Likely pathogenic	22	29083971	29083983	GAAGGCTGAAAATA	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA658799499
Deletion	NC_000022.11:g.(?_28687743)_(28687986_?)del	CHEK2	Likely pathogenic	22	29083731	29083974	na	na	criteria provided, single submitter	-