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
Duplication	NM_007194.4(CHEK2):c.1197dup (p.Gly400fs)	CHEK2	Pathogenic	22	29091759	29091760	C	CA	criteria provided, multiple submitters, no conflicts	ClinGen:CA638954334
Insertion	NM_007194.4(CHEK2):c.693_694insCTCC (p.Gly232fs)	CHEK2	Pathogenic	22	29107995	29107996	C	CGGAG	criteria provided, single submitter	ClinGen:CA658656813
single nucleotide variant	NM_007194.4(CHEK2):c.629C>G (p.Ser210Ter)	CHEK2	Pathogenic	22	29115437	29115437	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA411105055
single nucleotide variant	NM_007194.4(CHEK2):c.684-1G>A	CHEK2	Likely pathogenic	22	29108006	29108006	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA411103528
single nucleotide variant	NM_007194.4(CHEK2):c.529A>T (p.Lys177Ter)	CHEK2	Pathogenic	22	29121028	29121028	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA323033023
Deletion	NM_007194.4(CHEK2):c.478del (p.Tyr159_Ile160insTer)	CHEK2	Pathogenic	22	29121079	29121079	AT	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA514168934
Deletion	NM_007194.4(CHEK2):c.133del (p.Thr45fs)	CHEK2	Pathogenic	22	29130577	29130577	GT	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA658656854
single nucleotide variant	NM_007194.4(CHEK2):c.56C>G (p.Ser19Ter)	CHEK2	Pathogenic	22	29130654	29130654	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA411091826
single nucleotide variant	NM_007194.4(CHEK2):c.372C>A (p.Cys124Ter)	CHEK2	Pathogenic	22	29121303	29121303	G	T	criteria provided, single submitter	ClinGen:CA411108111
single nucleotide variant	NM_007194.4(CHEK2):c.319+1G>A	CHEK2	Pathogenic/Likely pathogenic	22	29130390	29130390	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10168045