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.1544del (p.Pro515fs)	CHEK2	Likely pathogenic	22	29083973	29083973	AG	A	criteria provided, single submitter	ClinGen:CA658799501
Duplication	NM_007194.4(CHEK2):c.1546dup (p.Ser516fs)	CHEK2	Likely pathogenic	22	29083970	29083971	G	GA	criteria provided, single submitter	ClinGen:CA658799500
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
single nucleotide variant	NM_007194.4(CHEK2):c.1555C>T (p.Arg519Ter)	CHEK2	Pathogenic/Likely pathogenic	22	29083962	29083962	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA288290
Insertion	NM_007194.4(CHEK2):c.1558_1559insC (p.Lys520fs)	CHEK2	Likely pathogenic	22	29083958	29083959	T	TG	criteria provided, multiple submitters, no conflicts	ClinGen:CA10581023