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.1260-24_1263del	CHEK2	Likely pathogenic	22	29091227	29091254	TAAGGCTTAATATTGGTAGAGAGAGAAAG	T	criteria provided, single submitter	-
single nucleotide variant	NM_007194.4(CHEK2):c.1375+1G>A	CHEK2	Likely pathogenic	22	29091114	29091114	C	T	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_007194.4(CHEK2):c.1461+2del	CHEK2	Likely pathogenic	22	29090018	29090018	CA	C	criteria provided, single submitter	-
Deletion	NC_000022.11:g.(?_28711899)_(28712027_?)del	CHEK2	Pathogenic	22	29107887	29108015	na	na	criteria provided, single submitter	-
Duplication	NC_000022.10:g.(?_29095816)_(29095935_?)dup	CHEK2	Likely pathogenic	22	29095816	29095935	na	na	criteria provided, single submitter	-
Deletion	NC_000022.11:g.(?_28687887)_(28734731_?)del	CHEK2	Pathogenic	22	29083875	29130719	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_007194.4(CHEK2):c.592+1G>A	CHEK2	Pathogenic/Likely pathogenic	22	29120964	29120964	C	T	criteria provided, multiple submitters, no conflicts	-
Deletion	NC_000022.11:g.(?_28687887)_(28710069_?)del	CHEK2	Pathogenic	22	29083875	29106057	na	na	criteria provided, single submitter	-
Deletion	NC_000022.11:g.(?_28687887)_(28687996_?)del	CHEK2	Likely pathogenic	22	29083875	29083984	na	na	criteria provided, single submitter	-
Deletion	NC_000022.11:g.(?_28695117)_(28696997_?)del	CHEK2	Pathogenic	22	29091105	29092985	na	na	criteria provided, single submitter	-