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_000051.4(ATM):c.9045_9052dup (p.Lys3018delinsArgAsnTer)	ATM	Pathogenic	11	108236106	108236107	A	AGAGAAACT	criteria provided, multiple submitters, no conflicts	ClinGen:CA16619271
Insertion	NM_007194.4(CHEK2):c.1142_1143insA (p.Met381fs)	CHEK2	Pathogenic/Likely pathogenic	22	29091814	29091815	C	CT	criteria provided, multiple submitters, no conflicts	ClinGen:CA16621055
Duplication	NM_007194.4(CHEK2):c.1116dup (p.Lys373fs)	CHEK2	Pathogenic	22	29091840	29091841	T	TG	criteria provided, multiple submitters, no conflicts	ClinGen:CA16621056
Deletion	NM_007194.4(CHEK2):c.1089_1092del (p.Ile364fs)	CHEK2	Pathogenic	22	29092892	29092895	TTATA	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16621058
Duplication	NM_007194.4(CHEK2):c.936dup (p.Val313fs)	CHEK2	Likely pathogenic	22	29095897	29095898	C	CT	criteria provided, single submitter	ClinGen:CA16621063
single nucleotide variant	NM_007194.4(CHEK2):c.444+2T>C	CHEK2	Pathogenic/Likely pathogenic	22	29121229	29121229	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16621080
Deletion	NM_007194.4(CHEK2):c.444+1del	CHEK2	Pathogenic/Likely pathogenic	22	29121230	29121230	AC	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16621081
Deletion	NM_007194.4(CHEK2):c.282del (p.Arg95fs)	CHEK2	Pathogenic/Likely pathogenic	22	29130428	29130428	GA	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16621083
single nucleotide variant	NM_007194.4(CHEK2):c.28C>T (p.Gln10Ter)	CHEK2	Pathogenic	22	29130682	29130682	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16621086
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